NM_005097.4(LGI1):c.657= (p.Phe219=)
|
rs1111820
|
0.02343
|
NM_001099403.2(PRDM8):c.1314C>T (p.Ala438=)
|
rs188061449
|
0.01796
|
NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly)
|
rs77602559
|
0.00605
|
NM_005045.4(RELN):c.5923G>A (p.Gly1975Ser)
|
rs114807343
|
0.00300
|
NM_005045.4(RELN):c.3651C>G (p.Ile1217Met)
|
rs56342240
|
0.00287
|
NM_005045.4(RELN):c.2466-6C>T
|
rs1167948188
|
0.00286
|
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly)
|
rs149804567
|
0.00233
|
NM_004287.5(GOSR2):c.40G>A (p.Glu14Lys)
|
rs113817924
|
0.00232
|
NM_005076.5(CNTN2):c.505C>T (p.Leu169Phe)
|
rs142502980
|
0.00224
|
NM_005506.4(SCARB2):c.445G>A (p.Val149Met)
|
rs147159813
|
0.00217
|
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln)
|
rs146321088
|
0.00197
|
NM_005076.5(CNTN2):c.1656C>A (p.Asp552Glu)
|
rs145352110
|
0.00182
|
NM_020822.3(KCNT1):c.3383C>T (p.Ala1128Val)
|
rs143704418
|
0.00182
|
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val)
|
rs144215383
|
0.00178
|
NM_001242896.3(DEPDC5):c.1321A>G (p.Thr441Ala)
|
rs199749859
|
0.00162
|
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln)
|
rs151272083
|
0.00162
|
NM_153026.3(PRICKLE1):c.2404C>T (p.Pro802Ser)
|
rs150545495
|
0.00160
|
NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val)
|
rs200250181
|
0.00159
|
NM_005045.4(RELN):c.77C>T (p.Ala26Val)
|
rs144557847
|
0.00154
|
NM_005076.5(CNTN2):c.1405C>A (p.Pro469Thr)
|
rs147693556
|
0.00148
|
NM_005670.4(EPM2A):c.129C>G (p.Ala43=)
|
rs547147183
|
0.00145
|
NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys)
|
rs114684479
|
0.00140
|
NM_000748.3(CHRNB2):c.1235G>A (p.Gly412Asp)
|
rs112585933
|
0.00133
|
NM_198586.3(NHLRC1):c.422T>C (p.Val141Ala)
|
rs143537405
|
0.00133
|
NM_015973.5(GAL):c.253A>G (p.Asn85Asp)
|
rs145825008
|
0.00131
|
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln)
|
rs138282349
|
0.00128
|
NM_005045.4(RELN):c.7181-19A>G
|
rs187689137
|
0.00127
|
NM_020822.3(KCNT1):c.3256G>A (p.Gly1086Arg)
|
rs201156458
|
0.00122
|
NM_178013.4(PRIMA1):c.201G>A (p.Pro67=)
|
rs998017466
|
0.00119
|
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala)
|
rs143558324
|
0.00114
|
NM_001242896.3(DEPDC5):c.3265-3C>T
|
rs371377906
|
0.00108
|
NM_004287.5(GOSR2):c.322A>C (p.Thr108Pro)
|
rs138510884
|
0.00108
|
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val)
|
rs146636139
|
0.00108
|
NM_001134407.3(GRIN2A):c.1354G>A (p.Val452Met)
|
rs145956175
|
0.00105
|
NM_005045.4(RELN):c.474-7T>C
|
rs55693709
|
0.00105
|
NM_001242896.3(DEPDC5):c.262A>G (p.Asn88Asp)
|
rs144712084
|
0.00103
|
NM_000100.4(CSTB):c.121G>A (p.Val41Met)
|
rs143153487
|
0.00101
|
NM_005045.4(RELN):c.5200C>G (p.Leu1734Val)
|
rs362800
|
0.00098
|
NM_005045.4(RELN):c.6141C>T (p.Phe2047=)
|
rs79161241
|
0.00098
|
NM_005045.4(RELN):c.1001G>A (p.Arg334His)
|
rs146922726
|
0.00091
|
NM_000744.7(CHRNA4):c.1160A>G (p.Glu387Gly)
|
rs45604738
|
0.00088
|
NM_020822.3(KCNT1):c.2034C>T (p.Gly678=)
|
rs369983077
|
0.00088
|
NM_032737.4(LMNB2):c.815G>A (p.Arg272Gln)
|
rs142557433
|
0.00088
|
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val)
|
rs147399860
|
0.00087
|
NM_001077350.3(NPRL3):c.1516A>T (p.Asn506Tyr)
|
rs202015937
|
0.00086
|
NM_005670.4(EPM2A):c.171G>T (p.Pro57=)
|
rs531330673
|
0.00086
|
NM_005076.5(CNTN2):c.2155G>A (p.Gly719Arg)
|
rs144056952
|
0.00082
|
NM_000744.7(CHRNA4):c.1108C>T (p.Arg370Trp)
|
rs76378652
|
0.00080
|
NM_001122752.2(SERPINI1):c.208A>G (p.Lys70Glu)
|
rs11547811
|
0.00078
|
NM_005670.4(EPM2A):c.24G>A (p.Val8=)
|
rs587780938
|
0.00077
|
NM_005045.4(RELN):c.3913-9T>C
|
rs372473867
|
0.00076
|
NM_001099403.2(PRDM8):c.1407G>A (p.Ala469=)
|
rs559035384
|
0.00075
|
NM_020822.3(KCNT1):c.942C>T (p.Thr314=)
|
rs144766991
|
0.00075
|
NM_153026.3(PRICKLE1):c.2071A>G (p.Thr691Ala)
|
rs149496604
|
0.00075
|
NM_178013.4(PRIMA1):c.360-15T>G
|
rs202027086
|
0.00074
|
NM_000100.4(CSTB):c.54C>T (p.His18=)
|
rs557717323
|
0.00073
|
NM_001122752.2(SERPINI1):c.106C>A (p.Arg36Ser)
|
rs61735306
|
0.00073
|
NM_005045.4(RELN):c.1035A>G (p.Leu345=)
|
rs113998363
|
0.00072
|
NM_001242896.3(DEPDC5):c.1330G>A (p.Gly444Arg)
|
rs201394709
|
0.00071
|
NM_000744.7(CHRNA4):c.1441G>A (p.Gly481Ser)
|
rs111969225
|
0.00070
|
NM_021267.5(CERS1):c.16C>A (p.Pro6Thr)
|
rs1041161328
|
0.00069
|
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser)
|
rs77029288
|
0.00068
|
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly)
|
rs145063086
|
0.00067
|
NM_198586.3(NHLRC1):c.681T>A (p.Asn227Lys)
|
rs140850172
|
0.00067
|
NM_004287.5(GOSR2):c.369A>G (p.Ser123=)
|
rs150381512
|
0.00064
|
NM_005045.4(RELN):c.6962C>T (p.Thr2321Met)
|
rs116065504
|
0.00064
|
NM_005045.4(RELN):c.9605+19T>C
|
rs202052256
|
0.00063
|
NM_005506.4(SCARB2):c.424-4G>A
|
rs368869126
|
0.00060
|
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=)
|
rs77705198
|
0.00059
|
NM_018100.4(EFHC1):c.90G>A (p.Thr30=)
|
rs140429638
|
0.00059
|
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp)
|
rs138682847
|
0.00058
|
NM_001242896.3(DEPDC5):c.3155A>G (p.Lys1052Arg)
|
rs200277794
|
0.00058
|
NM_005670.4(EPM2A):c.681C>T (p.Ala227=)
|
rs61758156
|
0.00057
|
NM_020822.3(KCNT1):c.3685A>G (p.Thr1229Ala)
|
rs74533482
|
0.00057
|
NM_005045.4(RELN):c.3147-4A>G
|
rs375230548
|
0.00056
|
NM_001134407.3(GRIN2A):c.3190A>G (p.Thr1064Ala)
|
rs138809301
|
0.00055
|
NM_005045.4(RELN):c.7644G>A (p.Ser2548=)
|
rs150743664
|
0.00055
|
NM_000748.3(CHRNB2):c.77C>T (p.Thr26Met)
|
rs71651692
|
0.00054
|
NM_005045.4(RELN):c.6939T>C (p.Ile2313=)
|
rs113498433
|
0.00054
|
NM_005076.5(CNTN2):c.3085G>A (p.Val1029Met)
|
rs139534426
|
0.00054
|
NM_005506.4(SCARB2):c.486C>T (p.Ala162=)
|
rs143518519
|
0.00054
|
NM_001161352.2(KCNMA1):c.1928+16C>A
|
rs202235932
|
0.00053
|
NM_001161352.2(KCNMA1):c.3147+15T>C
|
rs145048715
|
0.00053
|
NM_032737.4(LMNB2):c.401+12C>T
|
rs375417244
|
0.00053
|
NM_000742.4(CHRNA2):c.731A>G (p.Lys244Arg)
|
rs146751925
|
0.00051
|
NM_000744.7(CHRNA4):c.225C>T (p.Asp75=)
|
rs113080067
|
0.00051
|
NM_001122752.2(SERPINI1):c.340G>A (p.Val114Met)
|
rs61735308
|
0.00051
|
NM_005045.4(RELN):c.1386C>T (p.Cys462=)
|
rs139321058
|
0.00050
|
NM_178013.4(PRIMA1):c.186G>A (p.Pro62=)
|
rs769268215
|
0.00050
|
NM_001242896.3(DEPDC5):c.1525C>T (p.Arg509Cys)
|
rs202083639
|
0.00049
|
NM_005045.4(RELN):c.5145A>G (p.Ser1715=)
|
rs113229231
|
0.00049
|
NM_015973.5(GAL):c.306C>T (p.Ala102=)
|
rs147122838
|
0.00049
|
NM_000744.7(CHRNA4):c.42G>A (p.Pro14=)
|
rs565990502
|
0.00048
|
NM_001099403.2(PRDM8):c.910G>C (p.Gly304Arg)
|
rs747934880
|
0.00048
|
NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys)
|
rs147306623
|
0.00048
|
NM_005045.4(RELN):c.139G>A (p.Glu47Lys)
|
rs139648092
|
0.00047
|
NM_005076.5(CNTN2):c.1460C>T (p.Thr487Ile)
|
rs116647440
|
0.00047
|
NM_020822.3(KCNT1):c.3682G>A (p.Glu1228Lys)
|
rs144679713
|
0.00047
|
NM_000742.4(CHRNA2):c.1530C>T (p.Ile510=)
|
rs149142237
|
0.00046
|
NM_005045.4(RELN):c.226+16C>T
|
rs201261973
|
0.00046
|
NM_005045.4(RELN):c.5530-18A>G
|
rs188302870
|
0.00046
|
NM_000742.4(CHRNA2):c.710C>A (p.Thr237Lys)
|
rs140350483
|
0.00045
|
NM_000744.7(CHRNA4):c.1006C>T (p.Arg336Cys)
|
rs56175056
|
0.00045
|
NM_001161352.2(KCNMA1):c.2965C>T (p.Arg989Cys)
|
rs143599540
|
0.00045
|
NM_001161352.2(KCNMA1):c.89A>G (p.His30Arg)
|
rs200474297
|
0.00044
|
NM_001122752.2(SERPINI1):c.1183A>G (p.Met395Val)
|
rs144637103
|
0.00043
|
NM_005097.4(LGI1):c.717A>C (p.Ile239=)
|
rs146425212
|
0.00043
|
NM_001134407.3(GRIN2A):c.2852G>T (p.Gly951Val)
|
rs139795367
|
0.00042
|
NM_001242896.3(DEPDC5):c.3331-10del
|
rs377356885
|
0.00042
|
NM_005506.4(SCARB2):c.276-7C>G
|
rs200507087
|
0.00042
|
NM_000742.4(CHRNA2):c.210C>T (p.Tyr70=)
|
rs144316375
|
0.00041
|
NM_001161352.2(KCNMA1):c.2547C>T (p.Asp849=)
|
rs147369374
|
0.00041
|
NM_001242896.3(DEPDC5):c.3805+10G>A
|
rs201608608
|
0.00041
|
NM_020822.3(KCNT1):c.2070C>T (p.Gly690=)
|
rs370155559
|
0.00041
|
NM_000742.4(CHRNA2):c.166A>T (p.Thr56Ser)
|
rs144185168
|
0.00040
|
NM_000742.4(CHRNA2):c.1234G>A (p.Glu412Lys)
|
rs141721605
|
0.00039
|
NM_001134407.3(GRIN2A):c.666C>T (p.Ile222=)
|
rs143594020
|
0.00039
|
NM_001134407.3(GRIN2A):c.741C>T (p.Gly247=)
|
rs141912603
|
0.00039
|
NM_005045.4(RELN):c.7180+12G>A
|
rs142041722
|
0.00039
|
NM_153026.3(PRICKLE1):c.2193C>T (p.Tyr731=)
|
rs137985321
|
0.00039
|
NM_005045.4(RELN):c.5136G>A (p.Thr1712=)
|
rs147933593
|
0.00038
|
NM_005076.5(CNTN2):c.2132C>T (p.Ser711Leu)
|
rs114879710
|
0.00038
|
NM_001242896.3(DEPDC5):c.3315C>T (p.Ser1105=)
|
rs371969641
|
0.00037
|
NM_005506.4(SCARB2):c.567T>C (p.His189=)
|
rs141208366
|
0.00037
|
NM_020822.3(KCNT1):c.3340C>T (p.Arg1114Trp)
|
rs370085077
|
0.00037
|
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met)
|
rs74772771
|
0.00036
|
NM_001099403.2(PRDM8):c.985C>T (p.Leu329=)
|
rs560049733
|
0.00036
|
NM_001112741.2(KCNC1):c.912G>A (p.Lys304=)
|
rs114815696
|
0.00036
|
NM_001242896.3(DEPDC5):c.4683C>T (p.Ser1561=)
|
rs370189053
|
0.00036
|
NM_004287.5(GOSR2):c.72G>A (p.Thr24=)
|
rs145772886
|
0.00036
|
NM_005045.4(RELN):c.6519C>T (p.Phe2173=)
|
rs146913017
|
0.00036
|
NM_018100.4(EFHC1):c.97T>C (p.Tyr33His)
|
rs374402088
|
0.00036
|
NM_005076.5(CNTN2):c.2835C>T (p.Thr945=)
|
rs141466578
|
0.00035
|
NM_020822.3(KCNT1):c.522G>A (p.Met174Ile)
|
rs147551342
|
0.00035
|
NM_021267.5(CERS1):c.898C>T (p.Leu300=)
|
rs373928623
|
0.00035
|
NM_005045.4(RELN):c.2754A>G (p.Gln918=)
|
rs114620008
|
0.00034
|
NM_005045.4(RELN):c.8946T>C (p.Asp2982=)
|
rs146294622
|
0.00034
|
NM_005045.4(RELN):c.9606-15C>A
|
rs369225933
|
0.00034
|
NM_153033.5(KCTD7):c.273C>T (p.Ser91=)
|
rs139585796
|
0.00034
|
NM_001161352.2(KCNMA1):c.1641C>T (p.Asp547=)
|
rs149647577
|
0.00033
|
NM_005045.4(RELN):c.877G>A (p.Asp293Asn)
|
rs200289289
|
0.00033
|
NM_005045.4(RELN):c.9825C>T (p.Ser3275=)
|
rs149713137
|
0.00033
|
NM_020822.3(KCNT1):c.957C>T (p.Asp319=)
|
rs148562086
|
0.00033
|
NM_032737.4(LMNB2):c.291G>A (p.Glu97=)
|
rs143458767
|
0.00033
|
NM_032737.4(LMNB2):c.574G>T (p.Ala192Ser)
|
rs112419003
|
0.00033
|
NM_001161352.2(KCNMA1):c.90C>T (p.His30=)
|
rs75040504
|
0.00032
|
NM_001242896.3(DEPDC5):c.2192C>T (p.Pro731Leu)
|
rs200841588
|
0.00032
|
NM_005045.4(RELN):c.5095G>A (p.Glu1699Lys)
|
rs147657490
|
0.00032
|
NM_020822.3(KCNT1):c.1258C>T (p.Leu420=)
|
rs199996353
|
0.00032
|
NM_032737.4(LMNB2):c.777G>A (p.Ala259=)
|
rs368625656
|
0.00032
|
NM_153033.5(KCTD7):c.387C>T (p.Ala129=)
|
rs140932942
|
0.00032
|
NM_001122752.2(SERPINI1):c.217C>T (p.Arg73Cys)
|
rs369596299
|
0.00031
|
NM_001134407.3(GRIN2A):c.942C>T (p.Pro314=)
|
rs145172949
|
0.00031
|
NM_001161352.2(KCNMA1):c.3148-8T>C
|
rs79155047
|
0.00031
|
NM_005045.4(RELN):c.2446C>T (p.Leu816Phe)
|
rs144653976
|
0.00031
|
NM_005045.4(RELN):c.4275A>G (p.Gly1425=)
|
rs141617635
|
0.00031
|
NM_005045.4(RELN):c.5225G>A (p.Arg1742Gln)
|
rs199553777
|
0.00031
|
NM_005076.5(CNTN2):c.487+20C>A
|
rs201600070
|
0.00031
|
NM_153033.5(KCTD7):c.507G>C (p.Arg169=)
|
rs142379946
|
0.00031
|
NM_000744.7(CHRNA4):c.384-9C>T
|
rs199992800
|
0.00030
|
NM_001099403.2(PRDM8):c.1333C>T (p.Leu445=)
|
rs951714195
|
0.00030
|
NM_001099403.2(PRDM8):c.276C>G (p.Val92=)
|
rs373706543
|
0.00030
|
NM_001134407.3(GRIN2A):c.939C>T (p.Ile313=)
|
rs146867324
|
0.00030
|
NM_001161352.2(KCNMA1):c.3150G>A (p.Thr1050=)
|
rs75116272
|
0.00030
|
NM_020822.3(KCNT1):c.2008+7C>T
|
rs372707698
|
0.00030
|
NM_000742.4(CHRNA2):c.340-15C>A
|
rs373046238
|
0.00029
|
NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr)
|
rs77710085
|
0.00029
|
NM_000742.4(CHRNA2):c.966G>A (p.Ser322=)
|
rs140118184
|
0.00029
|
NM_000744.7(CHRNA4):c.1711G>A (p.Val571Ile)
|
rs121912285
|
0.00029
|
NM_000744.7(CHRNA4):c.274G>C (p.Glu92Gln)
|
rs146651027
|
0.00029
|
NM_001242896.3(DEPDC5):c.748T>G (p.Phe250Val)
|
rs201429774
|
0.00029
|
NM_004287.5(GOSR2):c.29+8C>T
|
rs573306680
|
0.00029
|
NM_005045.4(RELN):c.5643G>A (p.Leu1881=)
|
rs141387255
|
0.00029
|
NM_005045.4(RELN):c.5796C>T (p.Asn1932=)
|
rs200299096
|
0.00029
|
NM_005045.4(RELN):c.6672-10C>A
|
rs372225140
|
0.00029
|
NM_005045.4(RELN):c.8843+3A>C
|
rs200124755
|
0.00029
|
NM_005670.4(EPM2A):c.849T>C (p.Tyr283=)
|
rs142027344
|
0.00029
|
NM_032737.4(LMNB2):c.982-4G>A
|
rs370025312
|
0.00029
|
NM_001077350.3(NPRL3):c.119-13C>T
|
rs370419688
|
0.00028
|
NM_001112741.2(KCNC1):c.677A>T (p.Asn226Ile)
|
rs73424032
|
0.00028
|
NM_001134407.3(GRIN2A):c.1410T>G (p.Thr470=)
|
rs372058698
|
0.00028
|
NM_001161352.2(KCNMA1):c.1441-11C>T
|
rs79390996
|
0.00028
|
NM_005045.4(RELN):c.2827C>T (p.His943Tyr)
|
rs190615928
|
0.00028
|
NM_021267.5(CERS1):c.178C>T (p.Leu60=)
|
rs760185006
|
0.00028
|
NM_178013.4(PRIMA1):c.189G>A (p.Pro63=)
|
rs775188425
|
0.00028
|
NM_000744.7(CHRNA4):c.879C>T (p.Thr293=)
|
rs371527699
|
0.00027
|
NM_001077350.3(NPRL3):c.630-9T>C
|
rs374656133
|
0.00027
|
NM_001242896.3(DEPDC5):c.1290C>T (p.Pro430=)
|
rs201202102
|
0.00027
|
NM_001242896.3(DEPDC5):c.363+6_363+7del
|
rs748242785
|
0.00027
|
NM_005045.4(RELN):c.9369+12T>C
|
rs140080276
|
0.00027
|
NM_020822.3(KCNT1):c.2418G>A (p.Ser806=)
|
rs142726010
|
0.00027
|
NM_032737.4(LMNB2):c.1344C>T (p.Gly448=)
|
rs144665669
|
0.00027
|
NM_032737.4(LMNB2):c.1686C>T (p.Thr562=)
|
rs140533741
|
0.00027
|
NM_153026.3(PRICKLE1):c.915G>A (p.Thr305=)
|
rs150052192
|
0.00027
|
NM_001134407.3(GRIN2A):c.2007+16T>C
|
rs371738664
|
0.00026
|
NM_001134407.3(GRIN2A):c.83A>C (p.Glu28Ala)
|
rs146839931
|
0.00026
|
NM_001161352.2(KCNMA1):c.1737G>A (p.Arg579=)
|
rs76141718
|
0.00026
|
NM_005097.4(LGI1):c.1155A>C (p.Leu385=)
|
rs202148793
|
0.00026
|
NM_020822.3(KCNT1):c.2214G>A (p.Pro738=)
|
rs142424896
|
0.00026
|
NM_020822.3(KCNT1):c.2454C>T (p.Ile818=)
|
rs149452823
|
0.00026
|
NM_020822.3(KCNT1):c.467A>G (p.Asn156Ser)
|
rs200632957
|
0.00026
|
NM_020822.3(KCNT1):c.759+13G>A
|
rs375237065
|
0.00026
|
NM_000744.7(CHRNA4):c.1415C>T (p.Ser472Phe)
|
rs534477048
|
0.00025
|
NM_005045.4(RELN):c.5711C>T (p.Thr1904Met)
|
rs114190729
|
0.00025
|
NM_005670.4(EPM2A):c.876G>A (p.Val292=)
|
rs774234576
|
0.00025
|
NM_020822.3(KCNT1):c.1638G>A (p.Pro546=)
|
rs138352399
|
0.00025
|
NM_032737.4(LMNB2):c.1368G>A (p.Thr456=)
|
rs138399575
|
0.00025
|
NM_032737.4(LMNB2):c.855+8C>T
|
rs375918278
|
0.00025
|
NM_032737.4(LMNB2):c.906G>A (p.Ala302=)
|
rs144417417
|
0.00025
|
NM_000744.7(CHRNA4):c.1169G>A (p.Gly390Glu)
|
rs121912268
|
0.00024
|
NM_000748.3(CHRNB2):c.1128C>T (p.Leu376=)
|
rs113116986
|
0.00024
|
NM_001134407.3(GRIN2A):c.2165C>T (p.Thr722Met)
|
rs376029542
|
0.00024
|
NM_001134407.3(GRIN2A):c.2277C>T (p.Thr759=)
|
rs148846694
|
0.00024
|
NM_001242896.3(DEPDC5):c.3312G>A (p.Ser1104=)
|
rs759169213
|
0.00024
|
NM_005045.4(RELN):c.1108G>C (p.Gly370Arg)
|
rs143050366
|
0.00024
|
NM_005045.4(RELN):c.4872A>G (p.Gln1624=)
|
rs149121159
|
0.00024
|
NM_018100.4(EFHC1):c.1675T>C (p.Leu559=)
|
rs145194882
|
0.00024
|
NM_020822.3(KCNT1):c.1511-4G>A
|
rs368480443
|
0.00024
|
NM_020822.3(KCNT1):c.3162C>T (p.His1054=)
|
rs146272510
|
0.00024
|
NM_153033.5(KCTD7):c.687T>C (p.Asp229=)
|
rs372150992
|
0.00024
|
NM_000744.7(CHRNA4):c.1538G>A (p.Arg513His)
|
rs868845088
|
0.00023
|
NM_000744.7(CHRNA4):c.1551G>A (p.Ser517=)
|
rs201441215
|
0.00023
|
NM_001134407.3(GRIN2A):c.2202C>G (p.Val734=)
|
rs367543138
|
0.00023
|
NM_020822.3(KCNT1):c.3694G>A (p.Glu1232Lys)
|
rs138109494
|
0.00023
|
NM_005045.4(RELN):c.2303+14G>A
|
rs377268631
|
0.00022
|
NM_153026.3(PRICKLE1):c.2439G>A (p.Arg813=)
|
rs138524511
|
0.00022
|
NM_000744.7(CHRNA4):c.1584G>A (p.Pro528=)
|
rs199783192
|
0.00021
|
NM_000744.7(CHRNA4):c.1635G>A (p.Thr545=)
|
rs121912283
|
0.00021
|
NM_001077350.3(NPRL3):c.118+11G>A
|
rs368365304
|
0.00021
|
NM_001077350.3(NPRL3):c.1544+20T>C
|
rs376979785
|
0.00021
|
NM_001099403.2(PRDM8):c.459C>A (p.Ser153=)
|
rs374385368
|
0.00021
|
NM_001134407.3(GRIN2A):c.736C>A (p.Leu246Ile)
|
rs555768104
|
0.00021
|
NM_001161352.2(KCNMA1):c.1287G>T (p.Leu429=)
|
rs147378590
|
0.00021
|
NM_001161352.2(KCNMA1):c.2398G>T (p.Asp800Tyr)
|
rs142210216
|
0.00021
|
NM_005045.4(RELN):c.1231C>A (p.Leu411Ile)
|
rs144978163
|
0.00021
|
NM_020822.3(KCNT1):c.1928G>A (p.Arg643Gln)
|
rs141281093
|
0.00021
|
NM_020822.3(KCNT1):c.2058C>T (p.Ser686=)
|
rs111647144
|
0.00021
|
NM_020822.3(KCNT1):c.2236G>A (p.Val746Met)
|
rs559344618
|
0.00021
|
NM_153026.3(PRICKLE1):c.775+20G>A
|
rs190710237
|
0.00021
|
NM_198586.3(NHLRC1):c.990G>A (p.Gln330=)
|
rs148553723
|
0.00021
|
NM_000742.4(CHRNA2):c.295-12T>G
|
rs369707163
|
0.00020
|
NM_005097.4(LGI1):c.270G>A (p.Thr90=)
|
rs139862877
|
0.00020
|
NM_020822.3(KCNT1):c.2136C>T (p.Pro712=)
|
rs377516058
|
0.00020
|
NM_021267.5(CERS1):c.393A>G (p.Pro131=)
|
rs577485199
|
0.00020
|
NM_000742.4(CHRNA2):c.1464+20G>A
|
rs377015162
|
0.00019
|
NM_001077350.3(NPRL3):c.1107C>T (p.Ser369=)
|
rs572375358
|
0.00019
|
NM_001134407.3(GRIN2A):c.1458C>A (p.Gly486=)
|
rs144572467
|
0.00019
|
NM_001134407.3(GRIN2A):c.2007+10C>T
|
rs368110989
|
0.00019
|
NM_001134407.3(GRIN2A):c.3039G>A (p.Leu1013=)
|
rs577077724
|
0.00019
|
NM_001161352.2(KCNMA1):c.1919G>A (p.Arg640Gln)
|
rs80266334
|
0.00019
|
NM_001161352.2(KCNMA1):c.2946C>T (p.Ser982=)
|
rs74699271
|
0.00019
|
NM_001161352.2(KCNMA1):c.3087G>A (p.Thr1029=)
|
rs200151850
|
0.00019
|
NM_001242896.3(DEPDC5):c.3805+15G>A
|
rs200812216
|
0.00019
|
NM_005045.4(RELN):c.3663C>T (p.Ser1221=)
|
rs199705497
|
0.00019
|
NM_005045.4(RELN):c.3891T>A (p.Pro1297=)
|
rs145600583
|
0.00019
|
NM_005045.4(RELN):c.4260G>A (p.Gly1420=)
|
rs150518726
|
0.00019
|
NM_005045.4(RELN):c.4704G>A (p.Ala1568=)
|
rs780749647
|
0.00019
|
NM_005045.4(RELN):c.6302+20C>T
|
rs775229404
|
0.00019
|
NM_005045.4(RELN):c.8798C>T (p.Thr2933Ile)
|
rs201656873
|
0.00019
|
NM_005076.5(CNTN2):c.2844+11A>C
|
rs377297728
|
0.00019
|
NM_020822.3(KCNT1):c.3027+18C>T
|
rs369541323
|
0.00019
|
NM_020822.3(KCNT1):c.3178-16G>T
|
rs55906268
|
0.00019
|
NM_000742.4(CHRNA2):c.45C>T (p.Ser15=)
|
rs149934219
|
0.00018
|
NM_001112741.2(KCNC1):c.1659G>T (p.Glu553Asp)
|
rs372580647
|
0.00018
|
NM_001161352.2(KCNMA1):c.192C>G (p.Pro64=)
|
rs143562140
|
0.00018
|
NM_001242896.3(DEPDC5):c.1353C>T (p.Asn451=)
|
rs377336412
|
0.00018
|
NM_005045.4(RELN):c.2125A>G (p.Met709Val)
|
rs114577182
|
0.00018
|
NM_005045.4(RELN):c.8863C>T (p.Arg2955Cys)
|
rs114501042
|
0.00018
|
NM_020822.3(KCNT1):c.3001A>G (p.Thr1001Ala)
|
rs143780942
|
0.00018
|
NM_020822.3(KCNT1):c.637G>A (p.Val213Ile)
|
rs143536408
|
0.00018
|
NM_020822.3(KCNT1):c.867C>A (p.Ile289=)
|
rs761045901
|
0.00018
|
NM_178013.4(PRIMA1):c.252C>T (p.Pro84=)
|
rs140716518
|
0.00018
|
NM_001161352.2(KCNMA1):c.2548G>A (p.Val850Ile)
|
rs142770262
|
0.00017
|
NM_001242896.3(DEPDC5):c.3241A>C (p.Thr1081Pro)
|
rs142540948
|
0.00017
|
NM_005045.4(RELN):c.10276G>A (p.Val3426Ile)
|
rs188371196
|
0.00017
|
NM_005045.4(RELN):c.7107C>T (p.Asp2369=)
|
rs114339919
|
0.00017
|
NM_153026.3(PRICKLE1):c.246+11A>T
|
rs138597448
|
0.00017
|
NM_000748.3(CHRNB2):c.1234G>A (p.Gly412Ser)
|
rs774449832
|
0.00016
|
NM_001077350.3(NPRL3):c.1356C>T (p.Ser452=)
|
rs373792025
|
0.00016
|
NM_001242896.3(DEPDC5):c.3022-16C>T
|
rs76841380
|
0.00016
|
NM_004287.5(GOSR2):c.64C>T (p.Leu22=)
|
rs770760366
|
0.00016
|
NM_005045.4(RELN):c.2376T>C (p.Gly792=)
|
rs398124191
|
0.00016
|
NM_005045.4(RELN):c.2532G>A (p.Pro844=)
|
rs113842330
|
0.00016
|
NM_005045.4(RELN):c.7693G>A (p.Val2565Met)
|
rs184128506
|
0.00016
|
NM_005045.4(RELN):c.8212C>T (p.Arg2738Trp)
|
rs202166176
|
0.00016
|
NM_005076.5(CNTN2):c.1755C>T (p.Tyr585=)
|
rs575768659
|
0.00016
|
NM_005097.4(LGI1):c.588A>G (p.Glu196=)
|
rs149816434
|
0.00016
|
NM_005506.4(SCARB2):c.228C>T (p.Leu76=)
|
rs35069772
|
0.00016
|
NM_020822.3(KCNT1):c.2008+19G>A
|
rs369119562
|
0.00016
|
NM_020822.3(KCNT1):c.2220C>G (p.Asp740Glu)
|
rs148162797
|
0.00016
|
NM_020822.3(KCNT1):c.3288C>T (p.Gly1096=)
|
rs376167145
|
0.00016
|
NM_020822.3(KCNT1):c.585C>T (p.Ile195=)
|
rs148910448
|
0.00016
|
NM_021267.5(CERS1):c.912G>A (p.Ala304=)
|
rs369177504
|
0.00016
|
NM_032737.4(LMNB2):c.1406C>T (p.Ser469Leu)
|
rs369942106
|
0.00016
|
NM_153026.3(PRICKLE1):c.1608G>A (p.Ser536=)
|
rs144062651
|
0.00016
|
NM_153033.5(KCTD7):c.133C>T (p.Leu45=)
|
rs587780370
|
0.00016
|
NM_000742.4(CHRNA2):c.173C>T (p.Thr58Ile)
|
rs151268950
|
0.00015
|
NM_001134407.3(GRIN2A):c.1155G>C (p.Leu385=)
|
rs139119497
|
0.00015
|
NM_005076.5(CNTN2):c.2514G>A (p.Gln838=)
|
rs144293383
|
0.00015
|
NM_020822.3(KCNT1):c.2350-10C>T
|
rs367855961
|
0.00015
|
NM_020822.3(KCNT1):c.2595-9C>T
|
rs369966222
|
0.00015
|
NM_021267.5(CERS1):c.300C>T (p.Pro100=)
|
rs376834189
|
0.00015
|
NM_032737.4(LMNB2):c.265-6C>T
|
rs267607650
|
0.00015
|
NM_000744.7(CHRNA4):c.1269G>C (p.Lys423Asn)
|
rs199916140
|
0.00014
|
NM_000744.7(CHRNA4):c.1360G>A (p.Gly454Ser)
|
rs78306886
|
0.00014
|
NM_001077350.3(NPRL3):c.1197G>A (p.Gln399=)
|
rs369473961
|
0.00014
|
NM_001077350.3(NPRL3):c.394-13C>G
|
rs376971014
|
0.00014
|
NM_001122752.2(SERPINI1):c.990G>T (p.Glu330Asp)
|
rs372246975
|
0.00014
|
NM_001134407.3(GRIN2A):c.4212C>A (p.Ser1404=)
|
rs373213959
|
0.00014
|
NM_001134407.3(GRIN2A):c.963C>T (p.Tyr321=)
|
rs368200727
|
0.00014
|
NM_001242896.3(DEPDC5):c.258T>C (p.Tyr86=)
|
rs201609075
|
0.00014
|
NM_001242896.3(DEPDC5):c.4689A>G (p.Thr1563=)
|
rs368010039
|
0.00014
|
NM_005045.4(RELN):c.1013T>G (p.Val338Gly)
|
rs200513558
|
0.00014
|
NM_005045.4(RELN):c.227-6T>C
|
rs769480867
|
0.00014
|
NM_005045.4(RELN):c.3009-10G>A
|
rs140358876
|
0.00014
|
NM_005045.4(RELN):c.3411C>T (p.Gly1137=)
|
rs137974322
|
0.00014
|
NM_005045.4(RELN):c.7634C>T (p.Ala2545Val)
|
rs116634494
|
0.00014
|
NM_005045.4(RELN):c.8795C>A (p.Ser2932Tyr)
|
rs139225791
|
0.00014
|
NM_005045.4(RELN):c.9329G>A (p.Arg3110Gln)
|
rs368572382
|
0.00014
|
NM_005506.4(SCARB2):c.424-5C>T
|
rs192876326
|
0.00014
|
NM_020822.3(KCNT1):c.1788C>T (p.Ile596=)
|
rs373444768
|
0.00014
|
NM_020822.3(KCNT1):c.1852G>A (p.Ala618Thr)
|
rs756996609
|
0.00014
|
NM_020822.3(KCNT1):c.3058C>T (p.Arg1020Cys)
|
rs747605326
|
0.00014
|
NM_020822.3(KCNT1):c.3066C>T (p.Tyr1022=)
|
rs766717782
|
0.00014
|
NM_020822.3(KCNT1):c.3246C>T (p.Arg1082=)
|
rs765774534
|
0.00014
|
NM_020822.3(KCNT1):c.3317G>A (p.Arg1106Gln)
|
rs561255614
|
0.00014
|
NM_020822.3(KCNT1):c.708C>T (p.Ile236=)
|
rs148038658
|
0.00014
|
NM_021267.5(CERS1):c.590+14C>T
|
rs371448103
|
0.00014
|
NM_032737.4(LMNB2):c.264+15T>C
|
rs541933564
|
0.00014
|
NM_153033.5(KCTD7):c.168C>T (p.Asn56=)
|
rs371824397
|
0.00014
|
NM_153033.5(KCTD7):c.192A>G (p.Thr64=)
|
rs142526573
|
0.00014
|
NM_001099403.2(PRDM8):c.1485C>T (p.Asp495=)
|
rs373726901
|
0.00013
|
NM_001099403.2(PRDM8):c.372G>A (p.Glu124=)
|
rs372621624
|
0.00013
|
NM_001099403.2(PRDM8):c.555T>G (p.Ala185=)
|
rs377684484
|
0.00013
|
NM_001112741.2(KCNC1):c.683G>T (p.Arg228Leu)
|
rs200873319
|
0.00013
|
NM_001122752.2(SERPINI1):c.1125A>G (p.Pro375=)
|
rs753147816
|
0.00013
|
NM_001134407.3(GRIN2A):c.819A>G (p.Pro273=)
|
rs148085725
|
0.00013
|
NM_004287.5(GOSR2):c.336+9G>A
|
rs200210055
|
0.00013
|
NM_005045.4(RELN):c.7860C>T (p.Pro2620=)
|
rs116838125
|
0.00013
|
NM_005045.4(RELN):c.8634A>G (p.Ser2878=)
|
rs377429197
|
0.00013
|
NM_005045.4(RELN):c.9172T>C (p.Leu3058=)
|
rs2286261
|
0.00013
|
NM_005076.5(CNTN2):c.1215C>T (p.Tyr405=)
|
rs764907069
|
0.00013
|
NM_015973.5(GAL):c.66G>A (p.Ala22=)
|
rs542684427
|
0.00013
|
NM_018100.4(EFHC1):c.1057C>T (p.Arg353Trp)
|
rs527295360
|
0.00013
|
NM_018100.4(EFHC1):c.54G>T (p.Lys18Asn)
|
rs146467751
|
0.00013
|
NM_021267.5(CERS1):c.519C>A (p.Arg173=)
|
rs575712132
|
0.00013
|
NM_021267.5(CERS1):c.942G>A (p.Val314=)
|
rs373503454
|
0.00013
|
NM_153026.3(PRICKLE1):c.60C>A (p.Ser20=)
|
rs370960593
|
0.00013
|
NM_198586.3(NHLRC1):c.513C>T (p.Ala171=)
|
rs148907696
|
0.00013
|
NM_198586.3(NHLRC1):c.977C>A (p.Thr326Asn)
|
rs770587249
|
0.00013
|
NM_001077350.3(NPRL3):c.188+13C>T
|
rs373318523
|
0.00012
|
NM_001077350.3(NPRL3):c.225C>G (p.Thr75=)
|
rs372639365
|
0.00012
|
NM_001099403.2(PRDM8):c.219+17G>A
|
rs374010085
|
0.00012
|
NM_001134407.3(GRIN2A):c.2008-14C>T
|
rs375126711
|
0.00012
|
NM_001134407.3(GRIN2A):c.4356C>G (p.Arg1452=)
|
rs140093291
|
0.00012
|
NM_005045.4(RELN):c.5019C>A (p.Ser1673Arg)
|
rs370258062
|
0.00012
|
NM_005045.4(RELN):c.5211-7T>C
|
rs760447914
|
0.00012
|
NM_005506.4(SCARB2):c.430A>T (p.Ile144Leu)
|
rs117600063
|
0.00012
|
NM_020822.3(KCNT1):c.1149C>T (p.Ile383=)
|
rs144977019
|
0.00012
|
NM_020822.3(KCNT1):c.1827C>T (p.Asn609=)
|
rs142534422
|
0.00012
|
NM_020822.3(KCNT1):c.1899G>A (p.Ser633=)
|
rs371135108
|
0.00012
|
NM_020822.3(KCNT1):c.477C>G (p.Ser159=)
|
rs200157100
|
0.00012
|
NM_032737.4(LMNB2):c.1535A>G (p.Glu512Gly)
|
rs151318750
|
0.00012
|
NM_032737.4(LMNB2):c.1707C>T (p.Gly569=)
|
rs372581793
|
0.00012
|
NM_000742.4(CHRNA2):c.246C>T (p.Asp82=)
|
rs201244136
|
0.00011
|
NM_000744.7(CHRNA4):c.1715A>G (p.Gln572Arg)
|
rs113794453
|
0.00011
|
NM_000744.7(CHRNA4):c.1758+9C>T
|
rs202235637
|
0.00011
|
NM_000744.7(CHRNA4):c.589C>T (p.Arg197Cys)
|
rs144716263
|
0.00011
|
NM_000744.7(CHRNA4):c.693G>A (p.Pro231=)
|
rs121912250
|
0.00011
|
NM_001077350.3(NPRL3):c.1192C>T (p.Leu398=)
|
rs575256508
|
0.00011
|
NM_001134407.3(GRIN2A):c.949A>C (p.Lys317Gln)
|
rs141326581
|
0.00011
|
NM_001161352.2(KCNMA1):c.24C>T (p.Gly8=)
|
rs748427000
|
0.00011
|
NM_001161352.2(KCNMA1):c.2838G>A (p.Ala946=)
|
rs113441525
|
0.00011
|
NM_001161352.2(KCNMA1):c.363C>T (p.Cys121=)
|
rs141758134
|
0.00011
|
NM_001242896.3(DEPDC5):c.2007-11G>T
|
rs776476879
|
0.00011
|
NM_001242896.3(DEPDC5):c.2105-18G>A
|
rs370396455
|
0.00011
|
NM_001242896.3(DEPDC5):c.252T>C (p.Asp84=)
|
rs183443533
|
0.00011
|
NM_001242896.3(DEPDC5):c.2784C>T (p.Ala928=)
|
rs201146392
|
0.00011
|
NM_001242896.3(DEPDC5):c.363+14T>A
|
rs769562009
|
0.00011
|
NM_001242896.3(DEPDC5):c.3806-17C>T
|
rs376912140
|
0.00011
|
NM_001242896.3(DEPDC5):c.946+10G>C
|
rs367917127
|
0.00011
|
NM_005045.4(RELN):c.1336G>C (p.Glu446Gln)
|
rs56146903
|
0.00011
|
NM_005045.4(RELN):c.3913-10C>T
|
rs759409873
|
0.00011
|
NM_005045.4(RELN):c.4848G>T (p.Leu1616Phe)
|
rs200733882
|
0.00011
|
NM_005045.4(RELN):c.6193G>A (p.Val2065Ile)
|
rs201627577
|
0.00011
|
NM_005045.4(RELN):c.807G>T (p.Gly269=)
|
rs374420536
|
0.00011
|
NM_005045.4(RELN):c.9414C>T (p.Ser3138=)
|
rs375427974
|
0.00011
|
NM_005670.4(EPM2A):c.102G>C (p.Pro34=)
|
rs1014133463
|
0.00011
|
NM_015973.5(GAL):c.339C>T (p.Ala113=)
|
rs147742577
|
0.00011
|
NM_020822.3(KCNT1):c.1152C>T (p.Asp384=)
|
rs763854215
|
0.00011
|
NM_020822.3(KCNT1):c.1422C>T (p.Arg474=)
|
rs372250372
|
0.00011
|
NM_020822.3(KCNT1):c.2673C>T (p.Ala891=)
|
rs373503298
|
0.00011
|
NM_020822.3(KCNT1):c.2898C>T (p.Ala966=)
|
rs762968242
|
0.00011
|
NM_032737.4(LMNB2):c.1361C>T (p.Thr454Met)
|
rs200356238
|
0.00011
|
NM_032737.4(LMNB2):c.1482+17G>C
|
rs376632004
|
0.00011
|
NM_153026.3(PRICKLE1):c.1647G>A (p.Ser549=)
|
rs149518219
|
0.00011
|
NM_153026.3(PRICKLE1):c.471C>T (p.Val157=)
|
rs201613485
|
0.00011
|
NM_153026.3(PRICKLE1):c.480G>A (p.Thr160=)
|
rs376385820
|
0.00011
|
NM_153033.5(KCTD7):c.621C>A (p.Leu207=)
|
rs376944331
|
0.00011
|
NM_198586.3(NHLRC1):c.27G>A (p.Gly9=)
|
rs765575310
|
0.00011
|
NM_198586.3(NHLRC1):c.478T>C (p.Cys160Arg)
|
rs200595273
|
0.00011
|
NM_000744.7(CHRNA4):c.1228G>A (p.Val410Ile)
|
rs121912272
|
0.00010
|
NM_000744.7(CHRNA4):c.1645C>T (p.Arg549Cys)
|
rs367658654
|
0.00010
|
NM_000744.7(CHRNA4):c.358C>T (p.Arg120Trp)
|
rs200010568
|
0.00010
|
NM_000744.7(CHRNA4):c.384-8C>G
|
rs369806756
|
0.00010
|
NM_000744.7(CHRNA4):c.95C>A (p.Thr32Asn)
|
rs200601170
|
0.00010
|
NM_001161352.2(KCNMA1):c.414G>A (p.Ala138=)
|
rs61736948
|
0.00010
|
NM_001242896.3(DEPDC5):c.3264+13G>A
|
rs377268492
|
0.00010
|
NM_004287.5(GOSR2):c.246T>C (p.Thr82=)
|
rs141380070
|
0.00010
|
NM_005045.4(RELN):c.1344C>G (p.Gly448=)
|
rs144150588
|
0.00010
|
NM_005045.4(RELN):c.5274G>T (p.Ala1758=)
|
rs139102992
|
0.00010
|
NM_005045.4(RELN):c.5351+16T>C
|
rs375210307
|
0.00010
|
NM_005045.4(RELN):c.6384C>T (p.Ile2128=)
|
rs762802659
|
0.00010
|
NM_005045.4(RELN):c.6553A>T (p.Met2185Leu)
|
rs114686696
|
0.00010
|
NM_005045.4(RELN):c.9984-9G>A
|
rs758320422
|
0.00010
|
NM_005076.5(CNTN2):c.1344C>T (p.Ala448=)
|
rs778178054
|
0.00010
|
NM_005076.5(CNTN2):c.1738C>T (p.Arg580Cys)
|
rs185787873
|
0.00010
|
NM_005076.5(CNTN2):c.2760C>T (p.Ser920=)
|
rs201621031
|
0.00010
|
NM_005076.5(CNTN2):c.537G>C (p.Thr179=)
|
rs143379833
|
0.00010
|
NM_005506.4(SCARB2):c.1407G>A (p.Ala469=)
|
rs144878666
|
0.00010
|
NM_018100.4(EFHC1):c.912T>C (p.Asn304=)
|
rs373638109
|
0.00010
|
NM_020822.3(KCNT1):c.1725C>T (p.Tyr575=)
|
rs373520472
|
0.00010
|
NM_020822.3(KCNT1):c.1995C>T (p.Ile665=)
|
rs757811625
|
0.00010
|
NM_020822.3(KCNT1):c.2051C>T (p.Thr684Met)
|
rs377506738
|
0.00010
|
NM_020822.3(KCNT1):c.601-12G>A
|
rs765238793
|
0.00010
|
NM_021267.5(CERS1):c.174C>G (p.Pro58=)
|
rs992534143
|
0.00010
|
NM_021267.5(CERS1):c.663C>T (p.Leu221=)
|
rs535134210
|
0.00010
|
NM_032737.4(LMNB2):c.1742C>T (p.Ser581Leu)
|
rs147230168
|
0.00010
|
NM_032737.4(LMNB2):c.1796G>A (p.Gly599Asp)
|
rs145978406
|
0.00010
|
NM_032737.4(LMNB2):c.757G>A (p.Asp253Asn)
|
rs776574641
|
0.00010
|
NM_032737.4(LMNB2):c.927G>A (p.Glu309=)
|
rs750302398
|
0.00010
|
NM_032737.4(LMNB2):c.999T>G (p.Asp333Glu)
|
rs201032266
|
0.00010
|
NM_153026.3(PRICKLE1):c.113C>T (p.Pro38Leu)
|
rs145493619
|
0.00010
|
NM_153026.3(PRICKLE1):c.399A>C (p.Ile133=)
|
rs775864936
|
0.00010
|
NM_000100.4(CSTB):c.183C>T (p.Asp61=)
|
rs772899788
|
0.00009
|
NM_000742.4(CHRNA2):c.1202A>G (p.Tyr401Cys)
|
rs370964466
|
0.00009
|
NM_000742.4(CHRNA2):c.984C>T (p.Ile328=)
|
rs371858399
|
0.00009
|
NM_000744.7(CHRNA4):c.1245G>A (p.Pro415=)
|
rs200164578
|
0.00009
|
NM_000744.7(CHRNA4):c.1316A>C (p.Lys439Thr)
|
rs796052318
|
0.00009
|
NM_000744.7(CHRNA4):c.1359C>T (p.His453=)
|
rs121912276
|
0.00009
|
NM_000744.7(CHRNA4):c.1861C>A (p.Pro621Thr)
|
rs199852690
|
0.00009
|
NM_000744.7(CHRNA4):c.186C>T (p.Val62=)
|
rs200250180
|
0.00009
|
NM_000744.7(CHRNA4):c.229-10G>T
|
rs776781462
|
0.00009
|
NM_000744.7(CHRNA4):c.282C>T (p.His94=)
|
rs754402670
|
0.00009
|
NM_000744.7(CHRNA4):c.729G>A (p.Pro243=)
|
rs121912253
|
0.00009
|
NM_000744.7(CHRNA4):c.963C>T (p.Ile321=)
|
rs121912261
|
0.00009
|
NM_000748.3(CHRNB2):c.1339-6A>T
|
rs200177119
|
0.00009
|
NM_001077350.3(NPRL3):c.1162-5C>T
|
rs768868339
|
0.00009
|
NM_001077350.3(NPRL3):c.156C>T (p.Gly52=)
|
rs369462371
|
0.00009
|
NM_001099403.2(PRDM8):c.1779_1796del (p.Ala594_Gly599del)
|
rs574748973
|
0.00009
|
NM_001099403.2(PRDM8):c.90C>T (p.Tyr30=)
|
rs767896746
|
0.00009
|
NM_001112741.2(KCNC1):c.1065C>T (p.Gly355=)
|
rs533816804
|
0.00009
|
NM_001112741.2(KCNC1):c.1653C>T (p.Thr551=)
|
rs368328020
|
0.00009
|
NM_001112741.2(KCNC1):c.831G>T (p.Ser277=)
|
rs765494674
|
0.00009
|
NM_001122752.2(SERPINI1):c.1116C>T (p.Val372=)
|
rs142605327
|
0.00009
|
NM_001122752.2(SERPINI1):c.18C>A (p.Leu6=)
|
rs752294814
|
0.00009
|
NM_001134407.3(GRIN2A):c.1007+13T>G
|
rs199862009
|
0.00009
|
NM_001134407.3(GRIN2A):c.1652-14C>G
|
rs375922984
|
0.00009
|
NM_001134407.3(GRIN2A):c.447G>A (p.Ala149=)
|
rs144464666
|
0.00009
|
NM_001161352.2(KCNMA1):c.1500G>A (p.Ala500=)
|
rs201400928
|
0.00009
|
NM_001161352.2(KCNMA1):c.1523+14C>T
|
rs200327924
|
0.00009
|
NM_001161352.2(KCNMA1):c.2283G>A (p.Pro761=)
|
rs377596790
|
0.00009
|
NM_001161352.2(KCNMA1):c.483C>T (p.Ser161=)
|
rs200741233
|
0.00009
|
NM_001161352.2(KCNMA1):c.884+15G>A
|
rs200196183
|
0.00009
|
NM_001242896.3(DEPDC5):c.1217+15G>A
|
rs200208212
|
0.00009
|
NM_001242896.3(DEPDC5):c.1405C>T (p.Leu469=)
|
rs762811077
|
0.00009
|
NM_001242896.3(DEPDC5):c.2325T>C (p.Tyr775=)
|
rs374158137
|
0.00009
|
NM_001242896.3(DEPDC5):c.3054T>C (p.Thr1018=)
|
rs372062387
|
0.00009
|
NM_001242896.3(DEPDC5):c.711A>C (p.Ile237=)
|
rs368571578
|
0.00009
|
NM_005045.4(RELN):c.10108A>G (p.Thr3370Ala)
|
rs570807790
|
0.00009
|
NM_005045.4(RELN):c.10280+11A>G
|
rs200062707
|
0.00009
|
NM_005045.4(RELN):c.3146+16A>G
|
rs749284590
|
0.00009
|
NM_005045.4(RELN):c.3607G>A (p.Val1203Met)
|
rs140868852
|
0.00009
|
NM_005045.4(RELN):c.4495G>C (p.Asp1499His)
|
rs200428576
|
0.00009
|
NM_005045.4(RELN):c.4689C>T (p.Asp1563=)
|
rs138694965
|
0.00009
|
NM_005045.4(RELN):c.4720G>A (p.Ala1574Thr)
|
rs78480723
|
0.00009
|
NM_005045.4(RELN):c.6072+7G>T
|
rs777197865
|
0.00009
|
NM_005045.4(RELN):c.6189C>T (p.Ser2063=)
|
rs529198383
|
0.00009
|
NM_005045.4(RELN):c.7197C>T (p.Tyr2399=)
|
rs368769147
|
0.00009
|
NM_005045.4(RELN):c.8005G>A (p.Val2669Ile)
|
rs375985673
|
0.00009
|
NM_005076.5(CNTN2):c.1519+10G>A
|
rs193063011
|
0.00009
|
NM_005076.5(CNTN2):c.1602C>T (p.His534=)
|
rs760905192
|
0.00009
|
NM_005097.4(LGI1):c.756C>T (p.Ile252=)
|
rs368264015
|
0.00009
|
NM_005097.4(LGI1):c.812C>T (p.Thr271Ile)
|
rs140752487
|
0.00009
|
NM_005506.4(SCARB2):c.1187+18C>T
|
rs202159028
|
0.00009
|
NM_005506.4(SCARB2):c.1385G>A (p.Gly462Glu)
|
rs117157204
|
0.00009
|
NM_005506.4(SCARB2):c.24G>A (p.Thr8=)
|
rs772501510
|
0.00009
|
NM_005506.4(SCARB2):c.402A>G (p.Arg134=)
|
rs778684185
|
0.00009
|
NM_005506.4(SCARB2):c.580G>A (p.Asp194Asn)
|
rs773017713
|
0.00009
|
NM_018100.4(EFHC1):c.1385T>C (p.Ile462Thr)
|
rs200116252
|
0.00009
|
NM_020822.3(KCNT1):c.1431C>T (p.Ala477=)
|
rs375534850
|
0.00009
|
NM_020822.3(KCNT1):c.151G>C (p.Gly51Arg)
|
rs148808978
|
0.00009
|
NM_020822.3(KCNT1):c.2052G>A (p.Thr684=)
|
rs376314779
|
0.00009
|
NM_020822.3(KCNT1):c.2187C>T (p.Ser729=)
|
rs150222138
|
0.00009
|
NM_020822.3(KCNT1):c.2527G>A (p.Asp843Asn)
|
rs376758763
|
0.00009
|
NM_020822.3(KCNT1):c.3036C>T (p.Ile1012=)
|
rs201120894
|
0.00009
|
NM_020822.3(KCNT1):c.981G>A (p.Ser327=)
|
rs373317695
|
0.00009
|
NM_021267.5(CERS1):c.549C>T (p.His183=)
|
rs200024180
|
0.00009
|
NM_032737.4(LMNB2):c.1553C>T (p.Thr518Met)
|
rs368745985
|
0.00009
|
NM_153026.3(PRICKLE1):c.189C>T (p.Pro63=)
|
rs750059541
|
0.00009
|
NM_153026.3(PRICKLE1):c.2202C>T (p.Tyr734=)
|
rs570186739
|
0.00009
|
NM_153026.3(PRICKLE1):c.2316G>A (p.Ser772=)
|
rs143240342
|
0.00009
|
NM_198586.3(NHLRC1):c.1091C>T (p.Ser364Leu)
|
rs78324544
|
0.00009
|
NM_000744.7(CHRNA4):c.1087G>A (p.Val363Met)
|
rs121912266
|
0.00008
|
NM_000744.7(CHRNA4):c.1148G>A (p.Arg383His)
|
rs762374374
|
0.00008
|
NM_000744.7(CHRNA4):c.1510G>A (p.Gly504Ser)
|
rs201244483
|
0.00008
|
NM_000748.3(CHRNB2):c.1488C>T (p.His496=)
|
rs200582284
|
0.00008
|
NM_001077350.3(NPRL3):c.1329C>T (p.Asn443=)
|
rs559760517
|
0.00008
|
NM_001134407.3(GRIN2A):c.4330G>A (p.Val1444Ile)
|
rs150574045
|
0.00008
|
NM_001134407.3(GRIN2A):c.4353A>T (p.Arg1451Ser)
|
rs143693526
|
0.00008
|
NM_001161352.2(KCNMA1):c.3021C>T (p.Asn1007=)
|
rs369363787
|
0.00008
|
NM_001161352.2(KCNMA1):c.603-5A>G
|
rs907422214
|
0.00008
|
NM_001242896.3(DEPDC5):c.2034C>T (p.Asp678=)
|
rs779428450
|
0.00008
|
NM_001242896.3(DEPDC5):c.2973G>A (p.Glu991=)
|
rs370906184
|
0.00008
|
NM_001242896.3(DEPDC5):c.947-15T>C
|
rs755645969
|
0.00008
|
NM_005045.4(RELN):c.2637C>T (p.Val879=)
|
rs544717229
|
0.00008
|
NM_005045.4(RELN):c.8667+9_8667+13del
|
rs755797350
|
0.00008
|
NM_005076.5(CNTN2):c.1653C>T (p.Ile551=)
|
rs147493920
|
0.00008
|
NM_005076.5(CNTN2):c.1758G>A (p.Thr586=)
|
rs188155444
|
0.00008
|
NM_005076.5(CNTN2):c.2985T>C (p.Pro995=)
|
rs138239566
|
0.00008
|
NM_005097.4(LGI1):c.303C>T (p.Asn101=)
|
rs762343857
|
0.00008
|
NM_018100.4(EFHC1):c.89C>T (p.Thr30Met)
|
rs200435907
|
0.00008
|
NM_020822.3(KCNT1):c.1323C>T (p.Asp441=)
|
rs368477306
|
0.00008
|
NM_020822.3(KCNT1):c.1542C>T (p.Tyr514=)
|
rs371913299
|
0.00008
|
NM_020822.3(KCNT1):c.2502C>T (p.Ile834=)
|
rs139958448
|
0.00008
|
NM_020822.3(KCNT1):c.2730-15G>A
|
rs539244041
|
0.00008
|
NM_020822.3(KCNT1):c.3063G>A (p.Thr1021=)
|
rs760974671
|
0.00008
|
NM_020822.3(KCNT1):c.3138C>T (p.His1046=)
|
rs138533589
|
0.00008
|
NM_020822.3(KCNT1):c.3255C>T (p.Thr1085=)
|
rs371632359
|
0.00008
|
NM_020822.3(KCNT1):c.3387C>T (p.Ala1129=)
|
rs372410150
|
0.00008
|
NM_020822.3(KCNT1):c.434+10G>A
|
rs187872786
|
0.00008
|
NM_032737.4(LMNB2):c.1197G>A (p.Glu399=)
|
rs377234774
|
0.00008
|
NM_032737.4(LMNB2):c.1332C>T (p.Pro444=)
|
rs998616364
|
0.00008
|
NM_032737.4(LMNB2):c.1698C>T (p.Asn566=)
|
rs147619532
|
0.00008
|
NM_032737.4(LMNB2):c.281C>T (p.Ala94Val)
|
rs778299381
|
0.00008
|
NM_032737.4(LMNB2):c.428C>T (p.Thr143Met)
|
rs375961613
|
0.00008
|
NM_153026.3(PRICKLE1):c.2064T>C (p.Asn688=)
|
rs199893979
|
0.00008
|
NM_153033.5(KCTD7):c.145-15G>T
|
rs749343374
|
0.00008
|
NM_153033.5(KCTD7):c.411C>T (p.Leu137=)
|
rs374072904
|
0.00008
|
NM_178013.4(PRIMA1):c.378C>T (p.Asp126=)
|
rs199535476
|
0.00008
|
NM_198586.3(NHLRC1):c.933G>T (p.Gly311=)
|
rs527299943
|
0.00008
|
NM_000100.4(CSTB):c.45G>A (p.Glu15=)
|
rs1057521317
|
0.00007
|
NM_000742.4(CHRNA2):c.1099C>T (p.Arg367Trp)
|
rs751699392
|
0.00007
|
NM_000742.4(CHRNA2):c.759C>T (p.Pro253=)
|
rs144913811
|
0.00007
|
NM_000744.7(CHRNA4):c.1106G>A (p.Arg369Gln)
|
rs200007766
|
0.00007
|
NM_000744.7(CHRNA4):c.1494C>T (p.Ala498=)
|
rs137860047
|
0.00007
|
NM_000744.7(CHRNA4):c.414G>A (p.Leu138=)
|
rs769287364
|
0.00007
|
NM_000744.7(CHRNA4):c.852G>A (p.Ser284=)
|
rs199741056
|
0.00007
|
NM_000748.3(CHRNB2):c.825G>A (p.Ala275=)
|
rs140739605
|
0.00007
|
NM_001077350.3(NPRL3):c.119-8C>T
|
rs536194590
|
0.00007
|
NM_001077350.3(NPRL3):c.1251C>T (p.Ser417=)
|
rs534585670
|
0.00007
|
NM_001077350.3(NPRL3):c.1419C>T (p.Ser473=)
|
rs571533880
|
0.00007
|
NM_001077350.3(NPRL3):c.399C>T (p.Asn133=)
|
rs748812702
|
0.00007
|
NM_001077350.3(NPRL3):c.548-10A>T
|
rs749419450
|
0.00007
|
NM_001099403.2(PRDM8):c.1647C>T (p.Leu549=)
|
rs770130991
|
0.00007
|
NM_001099403.2(PRDM8):c.452-15T>C
|
rs751186666
|
0.00007
|
NM_001112741.2(KCNC1):c.1284C>T (p.Ile428=)
|
rs777458040
|
0.00007
|
NM_001112741.2(KCNC1):c.60G>A (p.Gln20=)
|
rs993728478
|
0.00007
|
NM_001134407.3(GRIN2A):c.1533G>A (p.Ser511=)
|
rs112848130
|
0.00007
|
NM_001134407.3(GRIN2A):c.1652-19T>C
|
rs778659119
|
0.00007
|
NM_001134407.3(GRIN2A):c.2636A>G (p.Lys879Arg)
|
rs183029507
|
0.00007
|
NM_001134407.3(GRIN2A):c.3276C>G (p.Ser1092=)
|
rs775325646
|
0.00007
|
NM_001134407.3(GRIN2A):c.3898A>G (p.Arg1300Gly)
|
rs372353067
|
0.00007
|
NM_001134407.3(GRIN2A):c.419C>T (p.Pro140Leu)
|
rs142566406
|
0.00007
|
NM_001134407.3(GRIN2A):c.882C>T (p.Asp294=)
|
rs201002710
|
0.00007
|
NM_001161352.2(KCNMA1):c.3343-17C>A
|
rs199571730
|
0.00007
|
NM_001161352.2(KCNMA1):c.3507G>A (p.Thr1169=)
|
rs201721843
|
0.00007
|
NM_001161352.2(KCNMA1):c.3627C>T (p.Ile1209=)
|
rs201924445
|
0.00007
|
NM_001242896.3(DEPDC5):c.1291G>T (p.Ala431Ser)
|
rs777844378
|
0.00007
|
NM_001242896.3(DEPDC5):c.146+5G>A
|
rs748264035
|
0.00007
|
NM_001242896.3(DEPDC5):c.2997G>T (p.Arg999=)
|
rs372078779
|
0.00007
|
NM_001242896.3(DEPDC5):c.609A>G (p.Leu203=)
|
rs200639727
|
0.00007
|
NM_004287.5(GOSR2):c.336+14G>A
|
rs201083529
|
0.00007
|
NM_004287.5(GOSR2):c.519C>T (p.Gly173=)
|
rs552055294
|
0.00007
|
NM_005045.4(RELN):c.10310T>C (p.Met3437Thr)
|
rs377638585
|
0.00007
|
NM_005045.4(RELN):c.1143+13T>C
|
rs200774629
|
0.00007
|
NM_005045.4(RELN):c.338-18C>T
|
rs769855701
|
0.00007
|
NM_005045.4(RELN):c.6915C>T (p.Pro2305=)
|
rs552247909
|
0.00007
|
NM_005045.4(RELN):c.8625G>A (p.Pro2875=)
|
rs190273964
|
0.00007
|
NM_005076.5(CNTN2):c.1216G>A (p.Ala406Thr)
|
rs752262787
|
0.00007
|
NM_005076.5(CNTN2):c.2649G>A (p.Lys883=)
|
rs772173976
|
0.00007
|
NM_005076.5(CNTN2):c.843C>T (p.Ser281=)
|
rs150754227
|
0.00007
|
NM_005076.5(CNTN2):c.846G>A (p.Pro282=)
|
rs180849149
|
0.00007
|
NM_005506.4(SCARB2):c.117+19T>C
|
rs774812479
|
0.00007
|
NM_005506.4(SCARB2):c.504T>A (p.Phe168Leu)
|
rs780352333
|
0.00007
|
NM_015973.5(GAL):c.141C>T (p.Ala47=)
|
rs367644530
|
0.00007
|
NM_020822.3(KCNT1):c.1036-12T>G
|
rs113079797
|
0.00007
|
NM_020822.3(KCNT1):c.1077_1078del (p.Gly361fs)
|
rs796214553
|
0.00007
|
NM_020822.3(KCNT1):c.1443C>T (p.Phe481=)
|
rs576446992
|
0.00007
|
NM_020822.3(KCNT1):c.1694G>A (p.Arg565His)
|
rs769855266
|
0.00007
|
NM_020822.3(KCNT1):c.1769+8C>T
|
rs371287985
|
0.00007
|
NM_020822.3(KCNT1):c.1770-15G>A
|
rs746828967
|
0.00007
|
NM_020822.3(KCNT1):c.2856T>C (p.Asn952=)
|
rs147671362
|
0.00007
|
NM_020822.3(KCNT1):c.2944-17C>T
|
rs1255015458
|
0.00007
|
NM_020822.3(KCNT1):c.3689G>A (p.Arg1230His)
|
rs776538404
|
0.00007
|
NM_020822.3(KCNT1):c.435-12G>C
|
rs367739886
|
0.00007
|
NM_020822.3(KCNT1):c.480C>T (p.Ser160=)
|
rs374042509
|
0.00007
|
NM_020822.3(KCNT1):c.625C>T (p.Arg209Cys)
|
rs568539413
|
0.00007
|
NM_020822.3(KCNT1):c.851C>T (p.Thr284Met)
|
rs376583438
|
0.00007
|
NM_020822.3(KCNT1):c.854+9C>T
|
rs370686981
|
0.00007
|
NM_021267.5(CERS1):c.12G>A (p.Ala4=)
|
rs1459126597
|
0.00007
|
NM_021267.5(CERS1):c.582C>T (p.Tyr194=)
|
rs779941388
|
0.00007
|
NM_153026.3(PRICKLE1):c.2194G>A (p.Gly732Arg)
|
rs150287042
|
0.00007
|
NM_000744.7(CHRNA4):c.1116C>T (p.Ile372=)
|
rs199889002
|
0.00006
|
NM_000744.7(CHRNA4):c.1266C>T (p.Cys422=)
|
rs121912274
|
0.00006
|
NM_000744.7(CHRNA4):c.1300C>A (p.Pro434Thr)
|
rs545104411
|
0.00006
|
NM_000744.7(CHRNA4):c.1334C>T (p.Ser445Leu)
|
rs773253903
|
0.00006
|
NM_000744.7(CHRNA4):c.138C>T (p.Ser46=)
|
rs200705061
|
0.00006
|
NM_000744.7(CHRNA4):c.1430C>T (p.Ala477Val)
|
rs200243948
|
0.00006
|
NM_000744.7(CHRNA4):c.1440C>T (p.Gly480=)
|
rs749506890
|
0.00006
|
NM_000744.7(CHRNA4):c.1454G>A (p.Arg485Gln)
|
rs755416498
|
0.00006
|
NM_000744.7(CHRNA4):c.1609C>T (p.Pro537Ser)
|
rs758895760
|
0.00006
|
NM_000744.7(CHRNA4):c.1815G>A (p.Met605Ile)
|
rs774394637
|
0.00006
|
NM_000744.7(CHRNA4):c.1825G>A (p.Val609Ile)
|
rs201168195
|
0.00006
|
NM_000744.7(CHRNA4):c.383+13C>T
|
rs199761642
|
0.00006
|
NM_000744.7(CHRNA4):c.461C>T (p.Pro154Leu)
|
rs121912244
|
0.00006
|
NM_000748.3(CHRNB2):c.1359C>T (p.Tyr453=)
|
rs761717685
|
0.00006
|
NM_000748.3(CHRNB2):c.272G>A (p.Arg91His)
|
rs144508607
|
0.00006
|
NM_001077350.3(NPRL3):c.1086G>A (p.Pro362=)
|
rs762516395
|
0.00006
|
NM_001077350.3(NPRL3):c.188+14G>A
|
rs368999536
|
0.00006
|
NM_001077350.3(NPRL3):c.951G>A (p.Val317=)
|
rs747655659
|
0.00006
|
NM_001099403.2(PRDM8):c.1494A>G (p.Lys498=)
|
rs1738660549
|
0.00006
|
NM_001099403.2(PRDM8):c.858T>C (p.Gly286=)
|
rs920460933
|
0.00006
|
NM_001112741.2(KCNC1):c.1269G>A (p.Ala423=)
|
rs150682385
|
0.00006
|
NM_001112741.2(KCNC1):c.1539G>A (p.Ala513=)
|
rs377504774
|
0.00006
|
NM_001112741.2(KCNC1):c.594C>T (p.Phe198=)
|
rs371344625
|
0.00006
|
NM_001122752.2(SERPINI1):c.482-6A>C
|
rs773900198
|
0.00006
|
NM_001122752.2(SERPINI1):c.482-7del
|
rs780104028
|
0.00006
|
NM_001134407.3(GRIN2A):c.1164C>T (p.Ala388=)
|
rs151137679
|
0.00006
|
NM_001134407.3(GRIN2A):c.2070G>A (p.Thr690=)
|
rs141924924
|
0.00006
|
NM_001134407.3(GRIN2A):c.2196C>T (p.Ala732=)
|
rs748323416
|
0.00006
|
NM_001134407.3(GRIN2A):c.2760A>G (p.Arg920=)
|
rs80138441
|
0.00006
|
NM_001134407.3(GRIN2A):c.2765C>T (p.Ala922Val)
|
rs200037904
|
0.00006
|
NM_001134407.3(GRIN2A):c.2909G>A (p.Arg970Gln)
|
rs148669437
|
0.00006
|
NM_001134407.3(GRIN2A):c.306C>T (p.Asp102=)
|
rs200850130
|
0.00006
|
NM_001134407.3(GRIN2A):c.3103G>A (p.Asp1035Asn)
|
rs540445580
|
0.00006
|
NM_001134407.3(GRIN2A):c.4170G>A (p.Ser1390=)
|
rs1057522803
|
0.00006
|
NM_001134407.3(GRIN2A):c.4259A>G (p.Asn1420Ser)
|
rs775911833
|
0.00006
|
NM_001134407.3(GRIN2A):c.559G>A (p.Val187Ile)
|
rs751692867
|
0.00006
|
NM_001134407.3(GRIN2A):c.623C>T (p.Thr208Ile)
|
rs367543124
|
0.00006
|
NM_001161352.2(KCNMA1):c.1218A>G (p.Gly406=)
|
rs755284666
|
0.00006
|
NM_001161352.2(KCNMA1):c.1224-8C>T
|
rs777700626
|
0.00006
|
NM_001161352.2(KCNMA1):c.2469A>C (p.Ile823=)
|
rs111630810
|
0.00006
|
NM_001161352.2(KCNMA1):c.2508C>T (p.Thr836=)
|
rs145100005
|
0.00006
|
NM_001161352.2(KCNMA1):c.2589G>A (p.Pro863=)
|
rs142004793
|
0.00006
|
NM_001161352.2(KCNMA1):c.3144C>T (p.Ser1048=)
|
rs2227913
|
0.00006
|
NM_001161352.2(KCNMA1):c.3342+16C>T
|
rs201689450
|
0.00006
|
NM_001161352.2(KCNMA1):c.3547G>A (p.Gly1183Ser)
|
rs549360933
|
0.00006
|
NM_001242896.3(DEPDC5):c.1964C>T (p.Ser655Phe)
|
rs762037579
|
0.00006
|
NM_001242896.3(DEPDC5):c.2229C>T (p.Asp743=)
|
rs199897456
|
0.00006
|
NM_001242896.3(DEPDC5):c.2361C>T (p.Asp787=)
|
rs371165640
|
0.00006
|
NM_001242896.3(DEPDC5):c.2910G>A (p.Gly970=)
|
rs377139782
|
0.00006
|
NM_001242896.3(DEPDC5):c.3201C>T (p.Ser1067=)
|
rs775749832
|
0.00006
|
NM_001242896.3(DEPDC5):c.3213C>G (p.Ala1071=)
|
rs373166302
|
0.00006
|
NM_001242896.3(DEPDC5):c.3264+12C>T
|
rs374277453
|
0.00006
|
NM_001242896.3(DEPDC5):c.4077C>T (p.Asp1359=)
|
rs573674033
|
0.00006
|
NM_001242896.3(DEPDC5):c.413+19T>C
|
rs543364711
|
0.00006
|
NM_001242896.3(DEPDC5):c.4392G>A (p.Thr1464=)
|
rs756506370
|
0.00006
|
NM_001242896.3(DEPDC5):c.4542C>T (p.Pro1514=)
|
rs368918488
|
0.00006
|
NM_001242896.3(DEPDC5):c.4809G>A (p.Pro1603=)
|
rs201307299
|
0.00006
|
NM_001242896.3(DEPDC5):c.695-16G>A
|
rs201635358
|
0.00006
|
NM_005045.4(RELN):c.1669T>G (p.Phe557Val)
|
rs757726526
|
0.00006
|
NM_005045.4(RELN):c.1746G>T (p.Thr582=)
|
rs138532222
|
0.00006
|
NM_005045.4(RELN):c.1935C>T (p.Thr645=)
|
rs768883584
|
0.00006
|
NM_005045.4(RELN):c.2002+10T>C
|
rs367840492
|
0.00006
|
NM_005045.4(RELN):c.223C>A (p.His75Asn)
|
rs555377051
|
0.00006
|
NM_005045.4(RELN):c.226+17C>T
|
rs766747842
|
0.00006
|
NM_005045.4(RELN):c.2352G>A (p.Thr784=)
|
rs148510862
|
0.00006
|
NM_005045.4(RELN):c.264G>A (p.Leu88=)
|
rs754207594
|
0.00006
|
NM_005045.4(RELN):c.3009-15A>G
|
rs757301431
|
0.00006
|
NM_005045.4(RELN):c.3191C>G (p.Ala1064Gly)
|
rs565236668
|
0.00006
|
NM_005045.4(RELN):c.3198G>A (p.Pro1066=)
|
rs767180170
|
0.00006
|
NM_005045.4(RELN):c.3642C>T (p.Val1214=)
|
rs151252449
|
0.00006
|
NM_005045.4(RELN):c.3712-5A>G
|
rs370671369
|
0.00006
|
NM_005045.4(RELN):c.4511+12T>G
|
rs758509796
|
0.00006
|
NM_005045.4(RELN):c.4701C>T (p.Asp1567=)
|
rs755634872
|
0.00006
|
NM_005045.4(RELN):c.5025C>T (p.Pro1675=)
|
rs748927848
|
0.00006
|
NM_005045.4(RELN):c.5210+17G>T
|
rs775344975
|
0.00006
|
NM_005045.4(RELN):c.5246A>G (p.Asn1749Ser)
|
rs755596079
|
0.00006
|
NM_005045.4(RELN):c.5418C>T (p.Asp1806=)
|
rs746613525
|
0.00006
|
NM_005045.4(RELN):c.6874C>T (p.Arg2292Cys)
|
rs762032224
|
0.00006
|
NM_005045.4(RELN):c.753+14A>G
|
rs368776001
|
0.00006
|
NM_005045.4(RELN):c.955G>A (p.Ala319Thr)
|
rs752141793
|
0.00006
|
NM_005045.4(RELN):c.9747C>T (p.Cys3249=)
|
rs749356183
|
0.00006
|
NM_005045.4(RELN):c.975A>G (p.Gln325=)
|
rs147568145
|
0.00006
|
NM_005076.5(CNTN2):c.1114C>T (p.Arg372Trp)
|
rs538644037
|
0.00006
|
NM_005076.5(CNTN2):c.1641C>T (p.Asp547=)
|
rs150567846
|
0.00006
|
NM_005076.5(CNTN2):c.186C>T (p.Arg62=)
|
rs762058787
|
0.00006
|
NM_005076.5(CNTN2):c.1976-14C>G
|
rs377135513
|
0.00006
|
NM_005076.5(CNTN2):c.238A>G (p.Met80Val)
|
rs776309126
|
0.00006
|
NM_005076.5(CNTN2):c.2432-12A>G
|
rs750433164
|
0.00006
|
NM_005076.5(CNTN2):c.2608G>A (p.Asp870Asn)
|
rs201107921
|
0.00006
|
NM_005076.5(CNTN2):c.703C>T (p.Arg235Trp)
|
rs747208674
|
0.00006
|
NM_005076.5(CNTN2):c.704G>A (p.Arg235Gln)
|
rs2229867
|
0.00006
|
NM_005076.5(CNTN2):c.786C>T (p.Phe262=)
|
rs369368742
|
0.00006
|
NM_005097.4(LGI1):c.1122C>T (p.His374=)
|
rs150515718
|
0.00006
|
NM_005097.4(LGI1):c.1290G>A (p.Glu430=)
|
rs139879036
|
0.00006
|
NM_005097.4(LGI1):c.1668C>T (p.Ser556=)
|
rs763654125
|
0.00006
|
NM_005506.4(SCARB2):c.1187+12T>C
|
rs532651260
|
0.00006
|
NM_005670.4(EPM2A):c.984G>T (p.Val328=)
|
rs200996083
|
0.00006
|
NM_015973.5(GAL):c.142G>A (p.Val48Ile)
|
rs541536020
|
0.00006
|
NM_018100.4(EFHC1):c.1279-4G>C
|
rs372831217
|
0.00006
|
NM_018100.4(EFHC1):c.1335T>C (p.Ala445=)
|
rs767652099
|
0.00006
|
NM_018100.4(EFHC1):c.1338C>T (p.Thr446=)
|
rs546464826
|
0.00006
|
NM_018100.4(EFHC1):c.1584C>T (p.Leu528=)
|
rs774640110
|
0.00006
|
NM_018100.4(EFHC1):c.1665C>T (p.Gly555=)
|
rs369201702
|
0.00006
|
NM_018100.4(EFHC1):c.1836C>T (p.Asp612=)
|
rs137869409
|
0.00006
|
NM_018100.4(EFHC1):c.1852-6C>G
|
rs372507832
|
0.00006
|
NM_018100.4(EFHC1):c.1856T>G (p.Ile619Ser)
|
rs142458862
|
0.00006
|
NM_020822.3(KCNT1):c.1173C>T (p.Asn391=)
|
rs374015551
|
0.00006
|
NM_020822.3(KCNT1):c.1327A>T (p.Met443Leu)
|
rs201908490
|
0.00006
|
NM_020822.3(KCNT1):c.146C>G (p.Thr49Ser)
|
rs200137341
|
0.00006
|
NM_020822.3(KCNT1):c.1962C>T (p.His654=)
|
rs141759469
|
0.00006
|
NM_020822.3(KCNT1):c.2152G>A (p.Asp718Asn)
|
rs777958749
|
0.00006
|
NM_020822.3(KCNT1):c.2670C>T (p.Ser890=)
|
rs765403435
|
0.00006
|
NM_020822.3(KCNT1):c.273C>T (p.Tyr91=)
|
rs770619151
|
0.00006
|
NM_020822.3(KCNT1):c.279C>T (p.Asn93=)
|
rs183022730
|
0.00006
|
NM_020822.3(KCNT1):c.3015G>T (p.Gly1005=)
|
rs368875875
|
0.00006
|
NM_020822.3(KCNT1):c.3153G>A (p.Ser1051=)
|
rs141802876
|
0.00006
|
NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met)
|
rs373041291
|
0.00006
|
NM_020822.3(KCNT1):c.32G>A (p.Gly11Glu)
|
rs1003586835
|
0.00006
|
NM_020822.3(KCNT1):c.335-4G>A
|
rs372339395
|
0.00006
|
NM_020822.3(KCNT1):c.3501C>T (p.Tyr1167=)
|
rs773575309
|
0.00006
|
NM_020822.3(KCNT1):c.3575C>T (p.Pro1192Leu)
|
rs147654995
|
0.00006
|
NM_020822.3(KCNT1):c.3669G>C (p.Ser1223=)
|
rs556454353
|
0.00006
|
NM_020822.3(KCNT1):c.533C>T (p.Ala178Val)
|
rs141961737
|
0.00006
|
NM_020822.3(KCNT1):c.62G>T (p.Gly21Val)
|
rs368870705
|
0.00006
|
NM_020822.3(KCNT1):c.744G>A (p.Ala248=)
|
rs145697148
|
0.00006
|
NM_020822.3(KCNT1):c.963G>A (p.Thr321=)
|
rs760300415
|
0.00006
|
NM_021267.5(CERS1):c.752+9T>C
|
rs369684023
|
0.00006
|
NM_032737.4(LMNB2):c.1137C>T (p.Asp379=)
|
rs144455343
|
0.00006
|
NM_032737.4(LMNB2):c.1351G>A (p.Val451Ile)
|
rs551737995
|
0.00006
|
NM_032737.4(LMNB2):c.1701G>A (p.Ala567=)
|
rs771771900
|
0.00006
|
NM_032737.4(LMNB2):c.1854C>T (p.Tyr618=)
|
rs377605893
|
0.00006
|
NM_032737.4(LMNB2):c.228C>G (p.Leu76=)
|
rs761508814
|
0.00006
|
NM_032737.4(LMNB2):c.264+7G>T
|
rs748398790
|
0.00006
|
NM_032737.4(LMNB2):c.504C>T (p.Ser168=)
|
rs750190446
|
0.00006
|
NM_032737.4(LMNB2):c.559-20C>T
|
rs767335689
|
0.00006
|
NM_032737.4(LMNB2):c.982-12C>T
|
rs777467524
|
0.00006
|
NM_153026.3(PRICKLE1):c.1443C>T (p.Gly481=)
|
rs376123082
|
0.00006
|
NM_153026.3(PRICKLE1):c.1629C>T (p.Ser543=)
|
rs748556304
|
0.00006
|
NM_153026.3(PRICKLE1):c.804C>T (p.Asp268=)
|
rs371149992
|
0.00006
|
NM_153033.5(KCTD7):c.216C>T (p.Tyr72=)
|
rs745910052
|
0.00006
|
NM_153033.5(KCTD7):c.493+7G>T
|
rs1482884248
|
0.00006
|
NM_000742.4(CHRNA2):c.1158C>T (p.Pro386=)
|
rs560790452
|
0.00005
|
NM_000742.4(CHRNA2):c.1222G>C (p.Val408Leu)
|
rs771994243
|
0.00005
|
NM_000742.4(CHRNA2):c.1245G>A (p.Val415=)
|
rs373599393
|
0.00005
|
NM_000742.4(CHRNA2):c.1431C>T (p.Ala477=)
|
rs373912586
|
0.00005
|
NM_000742.4(CHRNA2):c.168C>T (p.Thr56=)
|
rs200729883
|
0.00005
|
NM_000742.4(CHRNA2):c.202C>T (p.Arg68Trp)
|
rs376970816
|
0.00005
|
NM_000742.4(CHRNA2):c.416T>C (p.Met139Thr)
|
rs770447351
|
0.00005
|
NM_000744.7(CHRNA4):c.1086C>T (p.Ser362=)
|
rs74396179
|
0.00005
|
NM_000744.7(CHRNA4):c.1188C>T (p.Ser396=)
|
rs201164674
|
0.00005
|
NM_000744.7(CHRNA4):c.1278C>T (p.Ser426=)
|
rs202169925
|
0.00005
|
NM_000744.7(CHRNA4):c.1525G>A (p.Ala509Thr)
|
rs142137599
|
0.00005
|
NM_000744.7(CHRNA4):c.1759-4G>A
|
rs374354698
|
0.00005
|
NM_000744.7(CHRNA4):c.552C>T (p.Tyr184=)
|
rs112301452
|
0.00005
|
NM_000748.3(CHRNB2):c.1236C>T (p.Gly412=)
|
rs767533378
|
0.00005
|
NM_000748.3(CHRNB2):c.210+10G>A
|
rs200196583
|
0.00005
|
NM_000748.3(CHRNB2):c.348T>C (p.Asp116=)
|
rs78921047
|
0.00005
|
NM_000748.3(CHRNB2):c.780C>T (p.Ser260=)
|
rs369234693
|
0.00005
|
NM_001077350.3(NPRL3):c.1149C>T (p.Pro383=)
|
rs577949063
|
0.00005
|
NM_001077350.3(NPRL3):c.118+7G>A
|
rs753617978
|
0.00005
|
NM_001077350.3(NPRL3):c.1593C>T (p.Tyr531=)
|
rs200669192
|
0.00005
|
NM_001077350.3(NPRL3):c.924+14G>A
|
rs754657607
|
0.00005
|
NM_001099403.2(PRDM8):c.1464G>A (p.Gly488=)
|
rs951686621
|
0.00005
|
NM_001099403.2(PRDM8):c.2040C>T (p.His680=)
|
rs376730468
|
0.00005
|
NM_001112741.2(KCNC1):c.114G>A (p.Ala38=)
|
rs200677353
|
0.00005
|
NM_001112741.2(KCNC1):c.1182C>T (p.Ala394=)
|
rs148132957
|
0.00005
|
NM_001112741.2(KCNC1):c.1426G>A (p.Val476Ile)
|
rs146311746
|
0.00005
|
NM_001112741.2(KCNC1):c.1467G>A (p.Pro489=)
|
rs370905066
|
0.00005
|
NM_001122752.2(SERPINI1):c.1066+10G>T
|
rs773079957
|
0.00005
|
NM_001122752.2(SERPINI1):c.414T>C (p.His138=)
|
rs758630825
|
0.00005
|
NM_001134407.3(GRIN2A):c.1509A>G (p.Gln503=)
|
rs1261235589
|
0.00005
|
NM_001134407.3(GRIN2A):c.2007+14G>C
|
rs571971134
|
0.00005
|
NM_001134407.3(GRIN2A):c.2735C>G (p.Ser912Cys)
|
rs200588845
|
0.00005
|
NM_001134407.3(GRIN2A):c.2811T>A (p.Asp937Glu)
|
rs570907044
|
0.00005
|
NM_001134407.3(GRIN2A):c.3505C>T (p.Arg1169Trp)
|
rs369878342
|
0.00005
|
NM_001134407.3(GRIN2A):c.567C>A (p.Thr189=)
|
rs758864728
|
0.00005
|
NM_001161352.2(KCNMA1):c.1917C>T (p.Asn639=)
|
rs757149091
|
0.00005
|
NM_001161352.2(KCNMA1):c.2688C>T (p.Phe896=)
|
rs1031042677
|
0.00005
|
NM_001161352.2(KCNMA1):c.468C>T (p.Val156=)
|
rs140636629
|
0.00005
|
NM_001242896.3(DEPDC5):c.1014C>T (p.Pro338=)
|
rs774034064
|
0.00005
|
NM_001242896.3(DEPDC5):c.1509C>T (p.Ser503=)
|
rs376217381
|
0.00005
|
NM_001242896.3(DEPDC5):c.1758T>C (p.Val586=)
|
rs766732676
|
0.00005
|
NM_001242896.3(DEPDC5):c.3021+20_3021+21del
|
rs756984301
|
0.00005
|
NM_001242896.3(DEPDC5):c.3022-14C>T
|
rs201960899
|
0.00005
|
NM_001242896.3(DEPDC5):c.3891C>T (p.Ala1297=)
|
rs375636352
|
0.00005
|
NM_004287.5(GOSR2):c.388C>T (p.Leu130Phe)
|
rs137975476
|
0.00005
|
NM_005045.4(RELN):c.2112C>T (p.Ser704=)
|
rs760775607
|
0.00005
|
NM_005045.4(RELN):c.3086T>C (p.Ile1029Thr)
|
rs757915171
|
0.00005
|
NM_005045.4(RELN):c.3125C>T (p.Ser1042Leu)
|
rs41276145
|
0.00005
|
NM_005045.4(RELN):c.3190G>A (p.Ala1064Thr)
|
rs114389730
|
0.00005
|
NM_005045.4(RELN):c.338-9T>C
|
rs759501468
|
0.00005
|
NM_005045.4(RELN):c.4227C>T (p.Ser1409=)
|
rs149436053
|
0.00005
|
NM_005045.4(RELN):c.4497C>T (p.Asp1499=)
|
rs374062563
|
0.00005
|
NM_005045.4(RELN):c.4512-5C>T
|
rs776406996
|
0.00005
|
NM_005045.4(RELN):c.5002A>G (p.Met1668Val)
|
rs762369288
|
0.00005
|
NM_005045.4(RELN):c.5070T>C (p.Asn1690=)
|
rs781123359
|
0.00005
|
NM_005045.4(RELN):c.5220G>A (p.Arg1740=)
|
rs774453752
|
0.00005
|
NM_005045.4(RELN):c.6887C>T (p.Pro2296Leu)
|
rs764561610
|
0.00005
|
NM_005045.4(RELN):c.699G>A (p.Ala233=)
|
rs780491620
|
0.00005
|
NM_005045.4(RELN):c.7828A>G (p.Met2610Val)
|
rs200076453
|
0.00005
|
NM_005045.4(RELN):c.8493G>A (p.Pro2831=)
|
rs374053764
|
0.00005
|
NM_005045.4(RELN):c.9109G>C (p.Glu3037Gln)
|
rs142059680
|
0.00005
|
NM_005045.4(RELN):c.9633G>A (p.Lys3211=)
|
rs114211457
|
0.00005
|
NM_005076.5(CNTN2):c.261T>C (p.Arg87=)
|
rs767771094
|
0.00005
|
NM_005076.5(CNTN2):c.609C>T (p.Gly203=)
|
rs762080946
|
0.00005
|
NM_005076.5(CNTN2):c.699T>C (p.Asp233=)
|
rs370282258
|
0.00005
|
NM_005076.5(CNTN2):c.974-12G>C
|
rs201080048
|
0.00005
|
NM_005097.4(LGI1):c.1392G>A (p.Ser464=)
|
rs148804268
|
0.00005
|
NM_005097.4(LGI1):c.738T>A (p.Asn246Lys)
|
rs781404129
|
0.00005
|
NM_005506.4(SCARB2):c.118-12G>T
|
rs753744775
|
0.00005
|
NM_005506.4(SCARB2):c.588T>C (p.Ser196=)
|
rs761204416
|
0.00005
|
NM_018100.4(EFHC1):c.1523C>G (p.Thr508Arg)
|
rs200328198
|
0.00005
|
NM_020822.3(KCNT1):c.1035+17C>T
|
rs375391930
|
0.00005
|
NM_020822.3(KCNT1):c.1337+7G>A
|
rs374975940
|
0.00005
|
NM_020822.3(KCNT1):c.1402-5G>A
|
rs573411729
|
0.00005
|
NM_020822.3(KCNT1):c.1402-6C>T
|
rs755796820
|
0.00005
|
NM_020822.3(KCNT1):c.1689C>T (p.His563=)
|
rs765616016
|
0.00005
|
NM_020822.3(KCNT1):c.2008+20C>T
|
rs371649094
|
0.00005
|
NM_020822.3(KCNT1):c.2349+12G>A
|
rs769180254
|
0.00005
|
NM_020822.3(KCNT1):c.2841+11C>T
|
rs901557898
|
0.00005
|
NM_020822.3(KCNT1):c.309G>T (p.Leu103=)
|
rs767894239
|
0.00005
|
NM_020822.3(KCNT1):c.335-5C>T
|
rs745658927
|
0.00005
|
NM_020822.3(KCNT1):c.3437G>A (p.Arg1146His)
|
rs368339692
|
0.00005
|
NM_020822.3(KCNT1):c.408C>T (p.Leu136=)
|
rs370046449
|
0.00005
|
NM_020822.3(KCNT1):c.77C>T (p.Thr26Ile)
|
rs143015526
|
0.00005
|
NM_021267.5(CERS1):c.258G>A (p.Ala86=)
|
rs1038592004
|
0.00005
|
NM_021267.5(CERS1):c.66A>G (p.Leu22=)
|
rs1185015299
|
0.00005
|
NM_032737.4(LMNB2):c.1483-4C>T
|
rs200702267
|
0.00005
|
NM_032737.4(LMNB2):c.1632G>A (p.Ser544=)
|
rs147703402
|
0.00005
|
NM_032737.4(LMNB2):c.528C>T (p.Asp176=)
|
rs749717016
|
0.00005
|
NM_032737.4(LMNB2):c.615T>C (p.Arg205=)
|
rs367692230
|
0.00005
|
NM_032737.4(LMNB2):c.642C>T (p.Ser214=)
|
rs566081519
|
0.00005
|
NM_032737.4(LMNB2):c.888C>T (p.Asn296=)
|
rs761573780
|
0.00005
|
NM_032737.4(LMNB2):c.966C>T (p.Ser322=)
|
rs147230681
|
0.00005
|
NM_153026.3(PRICKLE1):c.588+18C>T
|
rs777295798
|
0.00005
|
NM_178013.4(PRIMA1):c.360-11C>T
|
rs368346847
|
0.00005
|
NM_198586.3(NHLRC1):c.1092G>A (p.Ser364=)
|
rs760322295
|
0.00005
|
NM_198586.3(NHLRC1):c.642A>G (p.Gln214=)
|
rs754756237
|
0.00005
|
NM_198586.3(NHLRC1):c.723C>A (p.Leu241=)
|
rs748203595
|
0.00005
|
NM_000100.4(CSTB):c.120C>T (p.Ala40=)
|
rs368198839
|
0.00004
|
NM_000100.4(CSTB):c.147G>A (p.Ala49=)
|
rs766654703
|
0.00004
|
NM_000100.4(CSTB):c.192C>T (p.Phe64=)
|
rs773820884
|
0.00004
|
NM_000100.4(CSTB):c.264C>T (p.Asn88=)
|
rs767258722
|
0.00004
|
NM_000100.4(CSTB):c.67-10T>G
|
rs199873087
|
0.00004
|
NM_000100.4(CSTB):c.67-12C>T
|
rs776841907
|
0.00004
|
NM_000742.4(CHRNA2):c.1073G>T (p.Ser358Ile)
|
rs74341575
|
0.00004
|
NM_000742.4(CHRNA2):c.1117T>C (p.Cys373Arg)
|
rs137965290
|
0.00004
|
NM_000742.4(CHRNA2):c.1123C>G (p.Pro375Ala)
|
rs746613509
|
0.00004
|
NM_000742.4(CHRNA2):c.1317C>T (p.His439=)
|
rs775578495
|
0.00004
|
NM_000742.4(CHRNA2):c.1569G>A (p.Pro523=)
|
rs199993564
|
0.00004
|
NM_000742.4(CHRNA2):c.222G>A (p.Ala74=)
|
rs369806823
|
0.00004
|
NM_000742.4(CHRNA2):c.276C>T (p.Ile92=)
|
rs201944711
|
0.00004
|
NM_000742.4(CHRNA2):c.288C>T (p.Ile96=)
|
rs561008438
|
0.00004
|
NM_000742.4(CHRNA2):c.289G>A (p.Asp97Asn)
|
rs775714882
|
0.00004
|
NM_000742.4(CHRNA2):c.615T>G (p.Thr205=)
|
rs370425843
|
0.00004
|
NM_000742.4(CHRNA2):c.777C>T (p.Phe259=)
|
rs77769511
|
0.00004
|
NM_000742.4(CHRNA2):c.869C>T (p.Pro290Leu)
|
rs767619637
|
0.00004
|
NM_000742.4(CHRNA2):c.906G>A (p.Ser302=)
|
rs151068685
|
0.00004
|
NM_000744.7(CHRNA4):c.1033C>T (p.Arg345Cys)
|
rs142260793
|
0.00004
|
NM_000744.7(CHRNA4):c.1044C>T (p.Phe348=)
|
rs199504576
|
0.00004
|
NM_000744.7(CHRNA4):c.1104C>T (p.Cys368=)
|
rs202166947
|
0.00004
|
NM_000744.7(CHRNA4):c.1138A>G (p.Ser380Gly)
|
rs187372416
|
0.00004
|
NM_000744.7(CHRNA4):c.1189G>A (p.Gly397Ser)
|
rs200667912
|
0.00004
|
NM_000744.7(CHRNA4):c.1402G>A (p.Val468Ile)
|
rs121912278
|
0.00004
|
NM_000744.7(CHRNA4):c.1443C>T (p.Gly481=)
|
rs1057522022
|
0.00004
|
NM_000744.7(CHRNA4):c.1483C>T (p.Arg495Ter)
|
rs765379481
|
0.00004
|
NM_000744.7(CHRNA4):c.1682C>T (p.Ser561Leu)
|
rs199949135
|
0.00004
|
NM_000744.7(CHRNA4):c.1708G>C (p.Gly570Arg)
|
rs771468419
|
0.00004
|
NM_000744.7(CHRNA4):c.1757C>T (p.Ser586Leu)
|
rs200644872
|
0.00004
|
NM_000744.7(CHRNA4):c.1759-17G>A
|
rs201735615
|
0.00004
|
NM_000744.7(CHRNA4):c.537C>T (p.Phe179=)
|
rs747499031
|
0.00004
|
NM_000744.7(CHRNA4):c.590G>A (p.Arg197His)
|
rs373516964
|
0.00004
|
NM_000744.7(CHRNA4):c.633C>T (p.Ile211=)
|
rs769813725
|
0.00004
|
NM_000744.7(CHRNA4):c.669C>T (p.Tyr223=)
|
rs79068736
|
0.00004
|
NM_000744.7(CHRNA4):c.692C>T (p.Pro231Leu)
|
rs763248360
|
0.00004
|
NM_000744.7(CHRNA4):c.858C>T (p.Thr286=)
|
rs121912257
|
0.00004
|
NM_000748.3(CHRNB2):c.1073G>A (p.Arg358His)
|
rs770156397
|
0.00004
|
NM_000748.3(CHRNB2):c.1157C>G (p.Ser386Cys)
|
rs542041934
|
0.00004
|
NM_000748.3(CHRNB2):c.122G>A (p.Arg41His)
|
rs199999862
|
0.00004
|
NM_000748.3(CHRNB2):c.1413C>T (p.Val471=)
|
rs772270570
|
0.00004
|
NM_000748.3(CHRNB2):c.201C>T (p.Leu67=)
|
rs773706734
|
0.00004
|
NM_000748.3(CHRNB2):c.447C>T (p.Ala149=)
|
rs755205867
|
0.00004
|
NM_000748.3(CHRNB2):c.594A>G (p.Thr198=)
|
rs749930516
|
0.00004
|
NM_001077350.3(NPRL3):c.1089C>T (p.Ser363=)
|
rs774948028
|
0.00004
|
NM_001077350.3(NPRL3):c.1212C>A (p.Ile404=)
|
rs772565196
|
0.00004
|
NM_001077350.3(NPRL3):c.1281C>T (p.Asp427=)
|
rs376125073
|
0.00004
|
NM_001077350.3(NPRL3):c.1449G>A (p.Thr483=)
|
rs376164029
|
0.00004
|
NM_001077350.3(NPRL3):c.1485C>T (p.Arg495=)
|
rs767665276
|
0.00004
|
NM_001077350.3(NPRL3):c.393+19G>C
|
rs376254663
|
0.00004
|
NM_001077350.3(NPRL3):c.489C>A (p.Leu163=)
|
rs376237512
|
0.00004
|
NM_001077350.3(NPRL3):c.547+16C>T
|
rs373390759
|
0.00004
|
NM_001077350.3(NPRL3):c.64C>T (p.Leu22=)
|
rs747813822
|
0.00004
|
NM_001077350.3(NPRL3):c.996C>T (p.Asn332=)
|
rs368729384
|
0.00004
|
NM_001099403.2(PRDM8):c.1236G>A (p.Glu412=)
|
rs1296620793
|
0.00004
|
NM_001099403.2(PRDM8):c.1239C>T (p.Asp413=)
|
rs955890394
|
0.00004
|
NM_001099403.2(PRDM8):c.1503C>T (p.Phe501=)
|
rs966208524
|
0.00004
|
NM_001099403.2(PRDM8):c.1569C>G (p.Leu523=)
|
rs771399439
|
0.00004
|
NM_001099403.2(PRDM8):c.220-17T>A
|
rs371051740
|
0.00004
|
NM_001099403.2(PRDM8):c.271T>C (p.Leu91=)
|
rs370312299
|
0.00004
|
NM_001099403.2(PRDM8):c.409T>C (p.Leu137=)
|
rs376010390
|
0.00004
|
NM_001099403.2(PRDM8):c.750C>G (p.Ala250=)
|
rs1458732519
|
0.00004
|
NM_001099403.2(PRDM8):c.774C>T (p.Ser258=)
|
rs1477843578
|
0.00004
|
NM_001099403.2(PRDM8):c.885C>T (p.His295=)
|
rs1031517706
|
0.00004
|
NM_001112741.2(KCNC1):c.1146G>A (p.Thr382=)
|
rs760069085
|
0.00004
|
NM_001112741.2(KCNC1):c.1383G>A (p.Pro461=)
|
rs200078349
|
0.00004
|
NM_001112741.2(KCNC1):c.1505-18C>G
|
rs758733821
|
0.00004
|
NM_001112741.2(KCNC1):c.255G>A (p.Pro85=)
|
rs368634420
|
0.00004
|
NM_001112741.2(KCNC1):c.636C>T (p.His212=)
|
rs745968113
|
0.00004
|
NM_001112741.2(KCNC1):c.915C>T (p.Asp305=)
|
rs757117157
|
0.00004
|
NM_001134407.3(GRIN2A):c.1008-9C>G
|
rs111844068
|
0.00004
|
NM_001134407.3(GRIN2A):c.1119A>G (p.Glu373=)
|
rs368406915
|
0.00004
|
NM_001134407.3(GRIN2A):c.136G>A (p.Val46Met)
|
rs796052542
|
0.00004
|
NM_001134407.3(GRIN2A):c.193C>T (p.Leu65=)
|
rs753806713
|
0.00004
|
NM_001134407.3(GRIN2A):c.222G>A (p.Met74Ile)
|
rs553783914
|
0.00004
|
NM_001134407.3(GRIN2A):c.2356+10C>T
|
rs780647266
|
0.00004
|
NM_001134407.3(GRIN2A):c.252G>T (p.Thr84=)
|
rs140136379
|
0.00004
|
NM_001134407.3(GRIN2A):c.2550G>A (p.Thr850=)
|
rs750224605
|
0.00004
|
NM_001134407.3(GRIN2A):c.2581T>C (p.Phe861Leu)
|
rs374474575
|
0.00004
|
NM_001134407.3(GRIN2A):c.2663C>T (p.Thr888Met)
|
rs149698593
|
0.00004
|
NM_001134407.3(GRIN2A):c.2664G>A (p.Thr888=)
|
rs113847665
|
0.00004
|
NM_001134407.3(GRIN2A):c.3003C>T (p.Ser1001=)
|
rs199551487
|
0.00004
|
NM_001134407.3(GRIN2A):c.3120G>C (p.Glu1040Asp)
|
rs756663920
|
0.00004
|
NM_001134407.3(GRIN2A):c.3138A>G (p.Leu1046=)
|
rs773244936
|
0.00004
|
NM_001134407.3(GRIN2A):c.3363T>G (p.Asp1121Glu)
|
rs764292783
|
0.00004
|
NM_001134407.3(GRIN2A):c.3366T>G (p.Gly1122=)
|
rs1060504864
|
0.00004
|
NM_001134407.3(GRIN2A):c.3378T>C (p.Pro1126=)
|
rs760073529
|
0.00004
|
NM_001134407.3(GRIN2A):c.3685A>T (p.Thr1229Ser)
|
rs747136651
|
0.00004
|
NM_001134407.3(GRIN2A):c.3787G>A (p.Gly1263Arg)
|
rs142113044
|
0.00004
|
NM_001134407.3(GRIN2A):c.3884T>C (p.Ile1295Thr)
|
rs757351084
|
0.00004
|
NM_001134407.3(GRIN2A):c.3909C>T (p.Asp1303=)
|
rs765744766
|
0.00004
|
NM_001134407.3(GRIN2A):c.3919C>T (p.Pro1307Ser)
|
rs148827608
|
0.00004
|
NM_001134407.3(GRIN2A):c.3953G>A (p.Arg1318Gln)
|
rs149745535
|
0.00004
|
NM_001134407.3(GRIN2A):c.3961G>C (p.Glu1321Gln)
|
rs370754278
|
0.00004
|
NM_001134407.3(GRIN2A):c.4185G>A (p.Ala1395=)
|
rs778429009
|
0.00004
|
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile)
|
rs587780353
|
0.00004
|
NM_001134407.3(GRIN2A):c.744C>T (p.Leu248=)
|
rs928714067
|
0.00004
|
NM_001134407.3(GRIN2A):c.747C>T (p.Thr249=)
|
rs774169125
|
0.00004
|
NM_001134407.3(GRIN2A):c.76G>T (p.Ala26Ser)
|
rs751198815
|
0.00004
|
NM_001134407.3(GRIN2A):c.883G>A (p.Gly295Ser)
|
rs568484876
|
0.00004
|
NM_001134407.3(GRIN2A):c.989C>T (p.Pro330Leu)
|
rs367543120
|
0.00004
|
NM_001161352.2(KCNMA1):c.1227C>T (p.His409=)
|
rs202161397
|
0.00004
|
NM_001161352.2(KCNMA1):c.1239C>T (p.Cys413=)
|
rs139515379
|
0.00004
|
NM_001161352.2(KCNMA1):c.1407C>T (p.Ser469=)
|
rs370862113
|
0.00004
|
NM_001161352.2(KCNMA1):c.1494G>A (p.Pro498=)
|
rs760119167
|
0.00004
|
NM_001161352.2(KCNMA1):c.1523+15G>A
|
rs201896013
|
0.00004
|
NM_001161352.2(KCNMA1):c.1563C>A (p.Ile521=)
|
rs78544619
|
0.00004
|
NM_001161352.2(KCNMA1):c.1593+19G>A
|
rs770715910
|
0.00004
|
NM_001161352.2(KCNMA1):c.2015+18A>G
|
rs200136190
|
0.00004
|
NM_001161352.2(KCNMA1):c.2360+11G>C
|
rs199815456
|
0.00004
|
NM_001161352.2(KCNMA1):c.2427C>T (p.Tyr809=)
|
rs202085429
|
0.00004
|
NM_001161352.2(KCNMA1):c.2544C>T (p.Gly848=)
|
rs139475681
|
0.00004
|
NM_001161352.2(KCNMA1):c.3017-5T>C
|
rs202032522
|
0.00004
|
NM_001161352.2(KCNMA1):c.3471C>T (p.Ile1157=)
|
rs200321180
|
0.00004
|
NM_001161352.2(KCNMA1):c.3704G>A (p.Arg1235Gln)
|
rs75843969
|
0.00004
|
NM_001161352.2(KCNMA1):c.498G>A (p.Ala166=)
|
rs201765039
|
0.00004
|
NM_001161352.2(KCNMA1):c.771C>T (p.Pro257=)
|
rs367642241
|
0.00004
|
NM_001161352.2(KCNMA1):c.783T>C (p.Ser261=)
|
rs145604644
|
0.00004
|
NM_001161352.2(KCNMA1):c.825A>G (p.Arg275=)
|
rs776877666
|
0.00004
|
NM_001242896.3(DEPDC5):c.1278A>G (p.Ala426=)
|
rs376799291
|
0.00004
|
NM_001242896.3(DEPDC5):c.1380C>T (p.Asp460=)
|
rs375451146
|
0.00004
|
NM_001242896.3(DEPDC5):c.1446-8C>A
|
rs188460159
|
0.00004
|
NM_001242896.3(DEPDC5):c.1803C>T (p.Phe601=)
|
rs368563183
|
0.00004
|
NM_001242896.3(DEPDC5):c.180A>G (p.Glu60=)
|
rs550525739
|
0.00004
|
NM_001242896.3(DEPDC5):c.2104+10C>G
|
rs779221302
|
0.00004
|
NM_001242896.3(DEPDC5):c.2104+9del
|
rs763310512
|
0.00004
|
NM_001242896.3(DEPDC5):c.2171-10C>T
|
rs746913609
|
0.00004
|
NM_001242896.3(DEPDC5):c.2367T>C (p.Asp789=)
|
rs751377415
|
0.00004
|
NM_001242896.3(DEPDC5):c.2592G>A (p.Thr864=)
|
rs763764167
|
0.00004
|
NM_001242896.3(DEPDC5):c.2634-16del
|
rs763989989
|
0.00004
|
NM_001242896.3(DEPDC5):c.2904C>T (p.Ile968=)
|
rs200175960
|
0.00004
|
NM_001242896.3(DEPDC5):c.2934C>T (p.Asp978=)
|
rs559006082
|
0.00004
|
NM_001242896.3(DEPDC5):c.3267C>T (p.Asp1089=)
|
rs374223318
|
0.00004
|
NM_001242896.3(DEPDC5):c.3624G>A (p.Ala1208=)
|
rs367828073
|
0.00004
|
NM_001242896.3(DEPDC5):c.45C>T (p.Gly15=)
|
rs373199155
|
0.00004
|
NM_001242896.3(DEPDC5):c.501G>A (p.Thr167=)
|
rs766360619
|
0.00004
|
NM_001242896.3(DEPDC5):c.744G>A (p.Gly248=)
|
rs377094222
|
0.00004
|
NM_004287.5(GOSR2):c.111C>T (p.Ile37=)
|
rs755662176
|
0.00004
|
NM_004287.5(GOSR2):c.204-7A>G
|
rs746177544
|
0.00004
|
NM_004287.5(GOSR2):c.405C>T (p.Asn135=)
|
rs753166413
|
0.00004
|
NM_004287.5(GOSR2):c.477+20A>T
|
rs778488918
|
0.00004
|
NM_005045.4(RELN):c.10026G>A (p.Thr3342=)
|
rs542352292
|
0.00004
|
NM_005045.4(RELN):c.10086A>G (p.Gln3362=)
|
rs765769069
|
0.00004
|
NM_005045.4(RELN):c.1008T>C (p.Gly336=)
|
rs754967827
|
0.00004
|
NM_005045.4(RELN):c.10101C>T (p.Asn3367=)
|
rs757164573
|
0.00004
|
NM_005045.4(RELN):c.10102G>A (p.Gly3368Arg)
|
rs753769576
|
0.00004
|
NM_005045.4(RELN):c.10122C>T (p.Ile3374=)
|
rs767729538
|
0.00004
|
NM_005045.4(RELN):c.10182-9G>A
|
rs1004382075
|
0.00004
|
NM_005045.4(RELN):c.10275C>T (p.Val3425=)
|
rs750834800
|
0.00004
|
NM_005045.4(RELN):c.1101G>A (p.Val367=)
|
rs938271576
|
0.00004
|
NM_005045.4(RELN):c.1197C>T (p.Ser399=)
|
rs199686580
|
0.00004
|
NM_005045.4(RELN):c.1381T>C (p.Leu461=)
|
rs142746698
|
0.00004
|
NM_005045.4(RELN):c.1649G>T (p.Arg550Met)
|
rs773589573
|
0.00004
|
NM_005045.4(RELN):c.185C>T (p.Ala62Val)
|
rs756018749
|
0.00004
|
NM_005045.4(RELN):c.2006A>T (p.Tyr669Phe)
|
rs139445071
|
0.00004
|
NM_005045.4(RELN):c.2016G>A (p.Pro672=)
|
rs146749232
|
0.00004
|
NM_005045.4(RELN):c.2185A>C (p.Ile729Leu)
|
rs745693220
|
0.00004
|
NM_005045.4(RELN):c.2303+10G>T
|
rs771875822
|
0.00004
|
NM_005045.4(RELN):c.245C>T (p.Thr82Ile)
|
rs368049573
|
0.00004
|
NM_005045.4(RELN):c.3504A>G (p.Leu1168=)
|
rs756850516
|
0.00004
|
NM_005045.4(RELN):c.37C>T (p.Leu13=)
|
rs775635007
|
0.00004
|
NM_005045.4(RELN):c.3804C>T (p.Thr1268=)
|
rs373549838
|
0.00004
|
NM_005045.4(RELN):c.4020G>A (p.Pro1340=)
|
rs200206522
|
0.00004
|
NM_005045.4(RELN):c.4042G>A (p.Glu1348Lys)
|
rs773149531
|
0.00004
|
NM_005045.4(RELN):c.4228G>A (p.Glu1410Lys)
|
rs374927338
|
0.00004
|
NM_005045.4(RELN):c.4703C>T (p.Ala1568Val)
|
rs767133532
|
0.00004
|
NM_005045.4(RELN):c.490C>T (p.Arg164Trp)
|
rs776886354
|
0.00004
|
NM_005045.4(RELN):c.529T>A (p.Leu177Met)
|
rs772643458
|
0.00004
|
NM_005045.4(RELN):c.5359C>T (p.Arg1787Trp)
|
rs115549751
|
0.00004
|
NM_005045.4(RELN):c.5530-20G>A
|
rs565309348
|
0.00004
|
NM_005045.4(RELN):c.5599A>C (p.Arg1867=)
|
rs753376558
|
0.00004
|
NM_005045.4(RELN):c.6073-8T>A
|
rs371292456
|
0.00004
|
NM_005045.4(RELN):c.6102A>T (p.Ser2034=)
|
rs368034037
|
0.00004
|
NM_005045.4(RELN):c.6169C>G (p.Leu2057Val)
|
rs764185528
|
0.00004
|
NM_005045.4(RELN):c.6214G>A (p.Glu2072Lys)
|
rs147042966
|
0.00004
|
NM_005045.4(RELN):c.6274G>A (p.Val2092Met)
|
rs752081680
|
0.00004
|
NM_005045.4(RELN):c.6632G>A (p.Arg2211His)
|
rs374088118
|
0.00004
|
NM_005045.4(RELN):c.667A>G (p.Asn223Asp)
|
rs555425719
|
0.00004
|
NM_005045.4(RELN):c.6698G>A (p.Gly2233Glu)
|
rs139819388
|
0.00004
|
NM_005045.4(RELN):c.6759C>T (p.Asn2253=)
|
rs548135273
|
0.00004
|
NM_005045.4(RELN):c.6875G>A (p.Arg2292His)
|
rs565382144
|
0.00004
|
NM_005045.4(RELN):c.7035C>T (p.Pro2345=)
|
rs906374670
|
0.00004
|
NM_005045.4(RELN):c.7339C>G (p.Pro2447Ala)
|
rs371476408
|
0.00004
|
NM_005045.4(RELN):c.7590C>A (p.Asn2530Lys)
|
rs766869538
|
0.00004
|
NM_005045.4(RELN):c.8051G>A (p.Arg2684His)
|
rs201157987
|
0.00004
|
NM_005045.4(RELN):c.8119+16C>T
|
rs572656670
|
0.00004
|
NM_005045.4(RELN):c.8119+17G>A
|
rs377519588
|
0.00004
|
NM_005045.4(RELN):c.8366T>C (p.Leu2789Pro)
|
rs752208462
|
0.00004
|
NM_005045.4(RELN):c.8730A>G (p.Glu2910=)
|
rs746880275
|
0.00004
|
NM_005045.4(RELN):c.8745C>T (p.Cys2915=)
|
rs1035653741
|
0.00004
|
NM_005045.4(RELN):c.965A>G (p.Glu322Gly)
|
rs778506754
|
0.00004
|
NM_005045.4(RELN):c.9725C>T (p.Thr3242Met)
|
rs763717800
|
0.00004
|
NM_005076.5(CNTN2):c.1075C>A (p.Arg359Ser)
|
rs371816961
|
0.00004
|
NM_005076.5(CNTN2):c.1241-3T>C
|
rs200577280
|
0.00004
|
NM_005076.5(CNTN2):c.1368G>A (p.Thr456=)
|
rs139907473
|
0.00004
|
NM_005076.5(CNTN2):c.1391+7C>A
|
rs748759051
|
0.00004
|
NM_005076.5(CNTN2):c.1392-6C>T
|
rs749779814
|
0.00004
|
NM_005076.5(CNTN2):c.1728C>T (p.Asn576=)
|
rs766092588
|
0.00004
|
NM_005076.5(CNTN2):c.1773G>A (p.Thr591=)
|
rs760280337
|
0.00004
|
NM_005076.5(CNTN2):c.1788G>A (p.Ala596=)
|
rs151320977
|
0.00004
|
NM_005076.5(CNTN2):c.2001C>T (p.Ala667=)
|
rs1307242710
|
0.00004
|
NM_005076.5(CNTN2):c.3084C>T (p.Ser1028=)
|
rs374947887
|
0.00004
|
NM_005076.5(CNTN2):c.318C>T (p.Ala106=)
|
rs372422500
|
0.00004
|
NM_005076.5(CNTN2):c.488-5C>T
|
rs928434851
|
0.00004
|
NM_005076.5(CNTN2):c.534G>A (p.Pro178=)
|
rs151020999
|
0.00004
|
NM_005076.5(CNTN2):c.831C>T (p.Asp277=)
|
rs199743054
|
0.00004
|
NM_005076.5(CNTN2):c.867C>T (p.Pro289=)
|
rs143847367
|
0.00004
|
NM_005076.5(CNTN2):c.912C>T (p.Tyr304=)
|
rs762026633
|
0.00004
|
NM_005097.4(LGI1):c.1368A>G (p.Lys456=)
|
rs369166517
|
0.00004
|
NM_005097.4(LGI1):c.1578A>C (p.Thr526=)
|
rs776735038
|
0.00004
|
NM_005097.4(LGI1):c.744G>A (p.Glu248=)
|
rs199916185
|
0.00004
|
NM_005097.4(LGI1):c.801T>C (p.His267=)
|
rs759132595
|
0.00004
|
NM_005097.4(LGI1):c.837A>G (p.Thr279=)
|
rs755068491
|
0.00004
|
NM_005506.4(SCARB2):c.1089T>C (p.His363=)
|
rs753197792
|
0.00004
|
NM_005506.4(SCARB2):c.1240-18A>G
|
rs371940249
|
0.00004
|
NM_005506.4(SCARB2):c.1266G>A (p.Ala422=)
|
rs150330299
|
0.00004
|
NM_005506.4(SCARB2):c.1273C>T (p.Leu425=)
|
rs764452245
|
0.00004
|
NM_005506.4(SCARB2):c.1398+14dup
|
rs745656715
|
0.00004
|
NM_005506.4(SCARB2):c.522C>T (p.Asp174=)
|
rs375051752
|
0.00004
|
NM_005506.4(SCARB2):c.915G>A (p.Thr305=)
|
rs762138695
|
0.00004
|
NM_005506.4(SCARB2):c.93G>A (p.Lys31=)
|
rs558215488
|
0.00004
|
NM_005506.4(SCARB2):c.9A>G (p.Arg3=)
|
rs148558907
|
0.00004
|
NM_005670.4(EPM2A):c.348C>T (p.Asn116=)
|
rs760860945
|
0.00004
|
NM_005670.4(EPM2A):c.476+7A>G
|
rs756197281
|
0.00004
|
NM_005670.4(EPM2A):c.918C>T (p.Asp306=)
|
rs375436219
|
0.00004
|
NM_018100.4(EFHC1):c.1017G>A (p.Gly339=)
|
rs144447906
|
0.00004
|
NM_018100.4(EFHC1):c.151C>T (p.Arg51Trp)
|
rs374661645
|
0.00004
|
NM_018100.4(EFHC1):c.1602T>C (p.His534=)
|
rs570700601
|
0.00004
|
NM_018100.4(EFHC1):c.1815G>A (p.Ser605=)
|
rs1045298708
|
0.00004
|
NM_018100.4(EFHC1):c.451C>T (p.Arg151Cys)
|
rs200375854
|
0.00004
|
NM_020822.3(KCNT1):c.1047C>T (p.Leu349=)
|
rs370414453
|
0.00004
|
NM_020822.3(KCNT1):c.1053C>T (p.Tyr351=)
|
rs973806258
|
0.00004
|
NM_020822.3(KCNT1):c.110+11del
|
rs1464834508
|
0.00004
|
NM_020822.3(KCNT1):c.110+12T>G
|
rs1186799198
|
0.00004
|
NM_020822.3(KCNT1):c.1119C>T (p.His373=)
|
rs1052932341
|
0.00004
|
NM_020822.3(KCNT1):c.1156C>T (p.Leu386Phe)
|
rs780875110
|
0.00004
|
NM_020822.3(KCNT1):c.1201-5G>A
|
rs766093946
|
0.00004
|
NM_020822.3(KCNT1):c.1368C>T (p.Leu456=)
|
rs373948466
|
0.00004
|
NM_020822.3(KCNT1):c.1497C>T (p.His499=)
|
rs754670800
|
0.00004
|
NM_020822.3(KCNT1):c.1620-14G>A
|
rs754311028
|
0.00004
|
NM_020822.3(KCNT1):c.1833G>A (p.Gly611=)
|
rs755787639
|
0.00004
|
NM_020822.3(KCNT1):c.1946C>T (p.Ser649Leu)
|
rs747671066
|
0.00004
|
NM_020822.3(KCNT1):c.1983C>T (p.Pro661=)
|
rs533528985
|
0.00004
|
NM_020822.3(KCNT1):c.1996A>T (p.Ile666Phe)
|
rs376231681
|
0.00004
|
NM_020822.3(KCNT1):c.2008+18C>T
|
rs370292952
|
0.00004
|
NM_020822.3(KCNT1):c.2008+8G>A
|
rs759334176
|
0.00004
|
NM_020822.3(KCNT1):c.2009-18C>T
|
rs1457591989
|
0.00004
|
NM_020822.3(KCNT1):c.2211G>A (p.Thr737=)
|
rs148928475
|
0.00004
|
NM_020822.3(KCNT1):c.2223C>T (p.Asp741=)
|
rs144118960
|
0.00004
|
NM_020822.3(KCNT1):c.231C>T (p.Asp77=)
|
rs370998066
|
0.00004
|
NM_020822.3(KCNT1):c.2388C>T (p.Tyr796=)
|
rs530678159
|
0.00004
|
NM_020822.3(KCNT1):c.2523-6C>T
|
rs992509278
|
0.00004
|
NM_020822.3(KCNT1):c.2594+17C>T
|
rs370941241
|
0.00004
|
NM_020822.3(KCNT1):c.2594+18G>A
|
rs374664484
|
0.00004
|
NM_020822.3(KCNT1):c.2594+7C>T
|
rs545094921
|
0.00004
|
NM_020822.3(KCNT1):c.2757G>A (p.Thr919=)
|
rs775752475
|
0.00004
|
NM_020822.3(KCNT1):c.2931A>G (p.Thr977=)
|
rs369519989
|
0.00004
|
NM_020822.3(KCNT1):c.2943+7G>A
|
rs375869783
|
0.00004
|
NM_020822.3(KCNT1):c.2944-18C>G
|
rs1361654206
|
0.00004
|
NM_020822.3(KCNT1):c.3111C>T (p.Pro1037=)
|
rs778321915
|
0.00004
|
NM_020822.3(KCNT1):c.3152C>T (p.Ser1051Leu)
|
rs375749415
|
0.00004
|
NM_020822.3(KCNT1):c.3163G>A (p.Asp1055Asn)
|
rs537379253
|
0.00004
|
NM_020822.3(KCNT1):c.3240C>T (p.Gly1080=)
|
rs766038759
|
0.00004
|
NM_020822.3(KCNT1):c.3245G>A (p.Arg1082His)
|
rs760151844
|
0.00004
|
NM_020822.3(KCNT1):c.3285C>T (p.Gly1095=)
|
rs778877333
|
0.00004
|
NM_020822.3(KCNT1):c.3289G>A (p.Gly1097Ser)
|
rs199779214
|
0.00004
|
NM_020822.3(KCNT1):c.3381G>A (p.Ala1127=)
|
rs762220012
|
0.00004
|
NM_020822.3(KCNT1):c.3384G>A (p.Ala1128=)
|
rs760868141
|
0.00004
|
NM_020822.3(KCNT1):c.3450C>T (p.Ser1150=)
|
rs757210594
|
0.00004
|
NM_020822.3(KCNT1):c.3504C>T (p.Asp1168=)
|
rs761504279
|
0.00004
|
NM_020822.3(KCNT1):c.3579T>A (p.Ser1193Arg)
|
rs142340167
|
0.00004
|
NM_020822.3(KCNT1):c.3588-4G>A
|
rs754639389
|
0.00004
|
NM_020822.3(KCNT1):c.601-20T>C
|
rs774722496
|
0.00004
|
NM_020822.3(KCNT1):c.690G>A (p.Pro230=)
|
rs565506288
|
0.00004
|
NM_020822.3(KCNT1):c.759+7C>T
|
rs779833209
|
0.00004
|
NM_021267.5(CERS1):c.1010+19G>A
|
rs776038644
|
0.00004
|
NM_021267.5(CERS1):c.369C>T (p.Thr123=)
|
rs560072286
|
0.00004
|
NM_021267.5(CERS1):c.591-6C>T
|
rs778912491
|
0.00004
|
NM_032737.4(LMNB2):c.1230G>A (p.Ser410=)
|
rs765514044
|
0.00004
|
NM_032737.4(LMNB2):c.1341C>T (p.Ser447=)
|
rs767447519
|
0.00004
|
NM_032737.4(LMNB2):c.1363G>C (p.Gly455Arg)
|
rs772769360
|
0.00004
|
NM_032737.4(LMNB2):c.153C>A (p.Arg51=)
|
rs777817932
|
0.00004
|
NM_032737.4(LMNB2):c.1608G>A (p.Ala536=)
|
rs778351054
|
0.00004
|
NM_032737.4(LMNB2):c.1750C>T (p.Arg584Cys)
|
rs201873197
|
0.00004
|
NM_032737.4(LMNB2):c.288C>T (p.Tyr96=)
|
rs201605408
|
0.00004
|
NM_032737.4(LMNB2):c.303C>T (p.Ala101=)
|
rs137884900
|
0.00004
|
NM_032737.4(LMNB2):c.561C>T (p.Ala187=)
|
rs369856120
|
0.00004
|
NM_032737.4(LMNB2):c.699G>A (p.Thr233=)
|
rs145894724
|
0.00004
|
NM_032737.4(LMNB2):c.84C>T (p.Arg28=)
|
rs760981938
|
0.00004
|
NM_153026.3(PRICKLE1):c.1059G>A (p.Ser353=)
|
rs769884613
|
0.00004
|
NM_153026.3(PRICKLE1):c.198G>A (p.Lys66=)
|
rs1256250717
|
0.00004
|
NM_153026.3(PRICKLE1):c.2487T>C (p.Ile829=)
|
rs376858650
|
0.00004
|
NM_153026.3(PRICKLE1):c.249A>G (p.Val83=)
|
rs763029790
|
0.00004
|
NM_153026.3(PRICKLE1):c.435G>A (p.Ala145=)
|
rs146650383
|
0.00004
|
NM_153033.5(KCTD7):c.315-10T>C
|
rs370881492
|
0.00004
|
NM_178013.4(PRIMA1):c.450C>T (p.Asn150=)
|
rs756623642
|
0.00004
|
NM_178013.4(PRIMA1):c.93+12C>G
|
rs920430832
|
0.00004
|
NM_178013.4(PRIMA1):c.94-12C>A
|
rs201072216
|
0.00004
|
NM_000100.4(CSTB):c.96C>T (p.Asn32=)
|
rs1436155713
|
0.00003
|
NM_000100.4(CSTB):c.9C>T (p.Cys3=)
|
rs555930471
|
0.00003
|
NM_000742.4(CHRNA2):c.1002C>T (p.Phe334=)
|
rs780941610
|
0.00003
|
NM_000742.4(CHRNA2):c.121C>T (p.Leu41Phe)
|
rs796052307
|
0.00003
|
NM_000742.4(CHRNA2):c.1465-3C>T
|
rs375469296
|
0.00003
|
NM_000742.4(CHRNA2):c.1575A>G (p.Leu525=)
|
rs1040135347
|
0.00003
|
NM_000742.4(CHRNA2):c.228G>A (p.Pro76=)
|
rs200277900
|
0.00003
|
NM_000742.4(CHRNA2):c.354C>T (p.Tyr118=)
|
rs778279138
|
0.00003
|
NM_000742.4(CHRNA2):c.525C>T (p.Pro175=)
|
rs1026442070
|
0.00003
|
NM_000742.4(CHRNA2):c.900C>T (p.Cys300=)
|
rs779197511
|
0.00003
|
NM_000744.7(CHRNA4):c.1061G>A (p.Arg354His)
|
rs200605749
|
0.00003
|
NM_000744.7(CHRNA4):c.1224C>T (p.Phe408=)
|
rs121912271
|
0.00003
|
NM_000744.7(CHRNA4):c.1230C>A (p.Val410=)
|
rs377273964
|
0.00003
|
NM_000744.7(CHRNA4):c.1318G>C (p.Ala440Pro)
|
rs771136225
|
0.00003
|
NM_000744.7(CHRNA4):c.1403T>C (p.Val468Ala)
|
rs766778904
|
0.00003
|
NM_000744.7(CHRNA4):c.1425C>T (p.Gly475=)
|
rs121912279
|
0.00003
|
NM_000744.7(CHRNA4):c.1484G>C (p.Arg495Pro)
|
rs549863396
|
0.00003
|
NM_000744.7(CHRNA4):c.1500C>T (p.Pro500=)
|
rs201391859
|
0.00003
|
NM_000744.7(CHRNA4):c.1521C>T (p.Ala507=)
|
rs138865255
|
0.00003
|
NM_000744.7(CHRNA4):c.162C>T (p.Pro54=)
|
rs776104392
|
0.00003
|
NM_000744.7(CHRNA4):c.1689C>T (p.Ala563=)
|
rs374172256
|
0.00003
|
NM_000744.7(CHRNA4):c.1697G>A (p.Arg566Gln)
|
rs200810080
|
0.00003
|
NM_000744.7(CHRNA4):c.1742A>G (p.Glu581Gly)
|
rs767165466
|
0.00003
|
NM_000744.7(CHRNA4):c.177G>A (p.Ser59=)
|
rs138295365
|
0.00003
|
NM_000744.7(CHRNA4):c.273+7G>A
|
rs202233788
|
0.00003
|
NM_000744.7(CHRNA4):c.327C>T (p.Thr109=)
|
rs200741415
|
0.00003
|
NM_000744.7(CHRNA4):c.411C>T (p.His137=)
|
rs201467277
|
0.00003
|
NM_000744.7(CHRNA4):c.438C>T (p.Asp146=)
|
rs147853603
|
0.00003
|
NM_000744.7(CHRNA4):c.442C>T (p.Arg148Trp)
|
rs121912243
|
0.00003
|
NM_000744.7(CHRNA4):c.501C>T (p.Phe167=)
|
rs374602963
|
0.00003
|
NM_000744.7(CHRNA4):c.591C>T (p.Arg197=)
|
rs776092779
|
0.00003
|
NM_000744.7(CHRNA4):c.912A>G (p.Pro304=)
|
rs1041716120
|
0.00003
|
NM_000744.7(CHRNA4):c.931C>T (p.Leu311=)
|
rs767662811
|
0.00003
|
NM_000744.7(CHRNA4):c.99G>C (p.Arg33=)
|
rs539718301
|
0.00003
|
NM_000748.3(CHRNB2):c.105T>A (p.His35Gln)
|
rs141689121
|
0.00003
|
NM_000748.3(CHRNB2):c.1338+10G>A
|
rs903039235
|
0.00003
|
NM_000748.3(CHRNB2):c.30G>A (p.Leu10=)
|
rs1403853764
|
0.00003
|
NM_000748.3(CHRNB2):c.321C>G (p.Leu107=)
|
rs375527798
|
0.00003
|
NM_000748.3(CHRNB2):c.432C>T (p.Phe144=)
|
rs199536721
|
0.00003
|
NM_000748.3(CHRNB2):c.64+14G>T
|
rs187976777
|
0.00003
|
NM_001077350.3(NPRL3):c.1047C>T (p.Ala349=)
|
rs373353333
|
0.00003
|
NM_001077350.3(NPRL3):c.1113G>C (p.Pro371=)
|
rs148130584
|
0.00003
|
NM_001077350.3(NPRL3):c.1162-4G>A
|
rs539175375
|
0.00003
|
NM_001077350.3(NPRL3):c.1305C>T (p.Gly435=)
|
rs755635095
|
0.00003
|
NM_001077350.3(NPRL3):c.1401C>T (p.Ser467=)
|
rs758047816
|
0.00003
|
NM_001077350.3(NPRL3):c.1668C>T (p.His556=)
|
rs370315887
|
0.00003
|
NM_001077350.3(NPRL3):c.408G>A (p.Pro136=)
|
rs757635247
|
0.00003
|
NM_001077350.3(NPRL3):c.547+9A>C
|
rs370796954
|
0.00003
|
NM_001077350.3(NPRL3):c.639G>A (p.Thr213=)
|
rs770198792
|
0.00003
|
NM_001077350.3(NPRL3):c.696C>T (p.Pro232=)
|
rs368272925
|
0.00003
|
NM_001099403.2(PRDM8):c.1038G>A (p.Glu346=)
|
rs752840771
|
0.00003
|
NM_001099403.2(PRDM8):c.1461C>G (p.Gly487=)
|
rs766926830
|
0.00003
|
NM_001099403.2(PRDM8):c.282G>A (p.Ser94=)
|
rs777124231
|
0.00003
|
NM_001099403.2(PRDM8):c.663A>G (p.Leu221=)
|
rs757742321
|
0.00003
|
NM_001099403.2(PRDM8):c.918C>T (p.Ala306=)
|
rs777671444
|
0.00003
|
NM_001112741.2(KCNC1):c.1137T>C (p.Ser379=)
|
rs774880418
|
0.00003
|
NM_001112741.2(KCNC1):c.1224G>A (p.Pro408=)
|
rs779961591
|
0.00003
|
NM_001112741.2(KCNC1):c.1505-17T>C
|
rs780502809
|
0.00003
|
NM_001112741.2(KCNC1):c.1605G>A (p.Thr535=)
|
rs760322146
|
0.00003
|
NM_001112741.2(KCNC1):c.1630G>A (p.Gly544Arg)
|
rs758088373
|
0.00003
|
NM_001112741.2(KCNC1):c.1734G>A (p.Pro578=)
|
rs1412531539
|
0.00003
|
NM_001112741.2(KCNC1):c.571-12T>C
|
rs751102079
|
0.00003
|
NM_001122752.2(SERPINI1):c.250+14G>C
|
rs769937767
|
0.00003
|
NM_001122752.2(SERPINI1):c.404C>T (p.Ala135Val)
|
rs746127233
|
0.00003
|
NM_001134407.3(GRIN2A):c.1122+10C>T
|
rs372687112
|
0.00003
|
NM_001134407.3(GRIN2A):c.1122+15G>A
|
rs770481323
|
0.00003
|
NM_001134407.3(GRIN2A):c.1271C>A (p.Pro424His)
|
rs375260513
|
0.00003
|
NM_001134407.3(GRIN2A):c.1476G>A (p.Val492=)
|
rs1347544821
|
0.00003
|
NM_001134407.3(GRIN2A):c.2024A>C (p.Asp675Ala)
|
rs75130648
|
0.00003
|
NM_001134407.3(GRIN2A):c.2457C>T (p.Gly819=)
|
rs750219908
|
0.00003
|
NM_001134407.3(GRIN2A):c.264C>T (p.Asp88=)
|
rs367543127
|
0.00003
|
NM_001134407.3(GRIN2A):c.3051C>T (p.Ser1017=)
|
rs773366584
|
0.00003
|
NM_001134407.3(GRIN2A):c.3426C>T (p.Pro1142=)
|
rs150487431
|
0.00003
|
NM_001134407.3(GRIN2A):c.3578T>G (p.Leu1193Trp)
|
rs75761674
|
0.00003
|
NM_001134407.3(GRIN2A):c.3624G>A (p.Arg1208=)
|
rs587780350
|
0.00003
|
NM_001134407.3(GRIN2A):c.3854G>A (p.Arg1285Lys)
|
rs367543132
|
0.00003
|
NM_001134407.3(GRIN2A):c.4191T>C (p.Asn1397=)
|
rs1295475837
|
0.00003
|
NM_001134407.3(GRIN2A):c.4205G>A (p.Arg1402Gln)
|
rs74935155
|
0.00003
|
NM_001134407.3(GRIN2A):c.837C>G (p.Val279=)
|
rs55885632
|
0.00003
|
NM_001161352.2(KCNMA1):c.1122C>T (p.Leu374=)
|
rs781404437
|
0.00003
|
NM_001161352.2(KCNMA1):c.1334+8C>A
|
rs775637689
|
0.00003
|
NM_001161352.2(KCNMA1):c.1485C>T (p.Cys495=)
|
rs200500216
|
0.00003
|
NM_001161352.2(KCNMA1):c.1788A>G (p.Gly596=)
|
rs527331588
|
0.00003
|
NM_001161352.2(KCNMA1):c.1842C>T (p.Ser614=)
|
rs559607000
|
0.00003
|
NM_001161352.2(KCNMA1):c.2277G>A (p.Glu759=)
|
rs759846411
|
0.00003
|
NM_001161352.2(KCNMA1):c.2340C>T (p.Asn780=)
|
rs767100016
|
0.00003
|
NM_001161352.2(KCNMA1):c.2496A>G (p.Glu832=)
|
rs778588355
|
0.00003
|
NM_001161352.2(KCNMA1):c.2675C>T (p.Thr892Met)
|
rs200440843
|
0.00003
|
NM_001161352.2(KCNMA1):c.2693A>G (p.Lys898Arg)
|
rs200714367
|
0.00003
|
NM_001161352.2(KCNMA1):c.2811G>A (p.Ser937=)
|
rs199970585
|
0.00003
|
NM_001161352.2(KCNMA1):c.2877C>T (p.Ile959=)
|
rs200108144
|
0.00003
|
NM_001161352.2(KCNMA1):c.2994C>T (p.Asn998=)
|
rs991345002
|
0.00003
|
NM_001161352.2(KCNMA1):c.3016+13G>A
|
rs200435538
|
0.00003
|
NM_001161352.2(KCNMA1):c.3072A>G (p.Thr1024=)
|
rs774352020
|
0.00003
|
NM_001161352.2(KCNMA1):c.312C>T (p.Ile104=)
|
rs775752274
|
0.00003
|
NM_001161352.2(KCNMA1):c.321C>T (p.Leu107=)
|
rs1019009470
|
0.00003
|
NM_001161352.2(KCNMA1):c.3357T>C (p.Tyr1119=)
|
rs1457371491
|
0.00003
|
NM_001161352.2(KCNMA1):c.3650A>G (p.Asn1217Ser)
|
rs563967757
|
0.00003
|
NM_001161352.2(KCNMA1):c.541-12C>T
|
rs199691703
|
0.00003
|
NM_001161352.2(KCNMA1):c.762G>A (p.Thr254=)
|
rs201814722
|
0.00003
|
NM_001242896.3(DEPDC5):c.1082-10C>T
|
rs750775944
|
0.00003
|
NM_001242896.3(DEPDC5):c.1329C>T (p.Leu443=)
|
rs758352057
|
0.00003
|
NM_001242896.3(DEPDC5):c.135C>T (p.Asn45=)
|
rs368243595
|
0.00003
|
NM_001242896.3(DEPDC5):c.165C>G (p.Val55=)
|
rs762835700
|
0.00003
|
NM_001242896.3(DEPDC5):c.1860T>C (p.Thr620=)
|
rs760911724
|
0.00003
|
NM_001242896.3(DEPDC5):c.204T>C (p.Ser68=)
|
rs774206363
|
0.00003
|
NM_001242896.3(DEPDC5):c.2619G>A (p.Thr873=)
|
rs371442017
|
0.00003
|
NM_001242896.3(DEPDC5):c.2730C>T (p.His910=)
|
rs140039884
|
0.00003
|
NM_001242896.3(DEPDC5):c.2802-10G>T
|
rs201972890
|
0.00003
|
NM_001242896.3(DEPDC5):c.3030C>T (p.Thr1010=)
|
rs548885626
|
0.00003
|
NM_001242896.3(DEPDC5):c.3144G>A (p.Glu1048=)
|
rs911753236
|
0.00003
|
NM_001242896.3(DEPDC5):c.3225C>T (p.Ser1075=)
|
rs757534228
|
0.00003
|
NM_001242896.3(DEPDC5):c.3321C>T (p.Phe1107=)
|
rs752465449
|
0.00003
|
NM_001242896.3(DEPDC5):c.3366C>T (p.Asp1122=)
|
rs375702574
|
0.00003
|
NM_001242896.3(DEPDC5):c.351A>G (p.Leu117=)
|
rs746535603
|
0.00003
|
NM_001242896.3(DEPDC5):c.363+10G>C
|
rs562677392
|
0.00003
|
NM_001242896.3(DEPDC5):c.3786G>A (p.Thr1262=)
|
rs372568872
|
0.00003
|
NM_001242896.3(DEPDC5):c.3806-10del
|
rs774724863
|
0.00003
|
NM_001242896.3(DEPDC5):c.3837C>T (p.His1279=)
|
rs370472498
|
0.00003
|
NM_001242896.3(DEPDC5):c.3948G>C (p.Leu1316=)
|
rs371864100
|
0.00003
|
NM_001242896.3(DEPDC5):c.4204-14G>T
|
rs771204203
|
0.00003
|
NM_001242896.3(DEPDC5):c.4230C>T (p.Thr1410=)
|
rs775840567
|
0.00003
|
NM_001242896.3(DEPDC5):c.4410C>T (p.His1470=)
|
rs372176746
|
0.00003
|
NM_001242896.3(DEPDC5):c.4437G>A (p.Arg1479=)
|
rs1057522689
|
0.00003
|
NM_001242896.3(DEPDC5):c.453C>T (p.Val151=)
|
rs558913954
|
0.00003
|
NM_001242896.3(DEPDC5):c.813C>T (p.Leu271=)
|
rs200547310
|
0.00003
|
NM_001242896.3(DEPDC5):c.871+9T>C
|
rs373471598
|
0.00003
|
NM_001242896.3(DEPDC5):c.872-14A>G
|
rs779818973
|
0.00003
|
NM_004287.5(GOSR2):c.105C>T (p.Asn35=)
|
rs780832143
|
0.00003
|
NM_004287.5(GOSR2):c.447T>C (p.Asp149=)
|
rs750298260
|
0.00003
|
NM_005045.4(RELN):c.1055A>G (p.Asn352Ser)
|
rs768851752
|
0.00003
|
NM_005045.4(RELN):c.126C>T (p.His42=)
|
rs1332446482
|
0.00003
|
NM_005045.4(RELN):c.1294G>T (p.Asp432Tyr)
|
rs765630155
|
0.00003
|
NM_005045.4(RELN):c.1892+19A>G
|
rs768149641
|
0.00003
|
NM_005045.4(RELN):c.1923C>T (p.Asn641=)
|
rs753289916
|
0.00003
|
NM_005045.4(RELN):c.227-7A>G
|
rs753968613
|
0.00003
|
NM_005045.4(RELN):c.23G>A (p.Arg8Gln)
|
rs765261158
|
0.00003
|
NM_005045.4(RELN):c.2476G>A (p.Val826Ile)
|
rs369844245
|
0.00003
|
NM_005045.4(RELN):c.2697C>T (p.Thr899=)
|
rs368168602
|
0.00003
|
NM_005045.4(RELN):c.2730A>T (p.Ser910=)
|
rs913959839
|
0.00003
|
NM_005045.4(RELN):c.2789T>C (p.Phe930Ser)
|
rs747512816
|
0.00003
|
NM_005045.4(RELN):c.2938G>C (p.Ala980Pro)
|
rs373969392
|
0.00003
|
NM_005045.4(RELN):c.3029G>A (p.Arg1010His)
|
rs373089551
|
0.00003
|
NM_005045.4(RELN):c.3051A>G (p.Thr1017=)
|
rs368869061
|
0.00003
|
NM_005045.4(RELN):c.3207T>C (p.Ile1069=)
|
rs774113517
|
0.00003
|
NM_005045.4(RELN):c.3639A>G (p.Ala1213=)
|
rs765398068
|
0.00003
|
NM_005045.4(RELN):c.4145+20T>G
|
rs1258615041
|
0.00003
|
NM_005045.4(RELN):c.4191C>T (p.Asn1397=)
|
rs544646610
|
0.00003
|
NM_005045.4(RELN):c.4227C>A (p.Ser1409=)
|
rs149436053
|
0.00003
|
NM_005045.4(RELN):c.4352T>C (p.Phe1451Ser)
|
rs137965786
|
0.00003
|
NM_005045.4(RELN):c.4353C>T (p.Phe1451=)
|
rs370743731
|
0.00003
|
NM_005045.4(RELN):c.4434C>G (p.Asn1478Lys)
|
rs375118721
|
0.00003
|
NM_005045.4(RELN):c.4644G>A (p.Glu1548=)
|
rs763043124
|
0.00003
|
NM_005045.4(RELN):c.4679T>C (p.Ile1560Thr)
|
rs1435209493
|
0.00003
|
NM_005045.4(RELN):c.5023C>G (p.Pro1675Ala)
|
rs770657475
|
0.00003
|
NM_005045.4(RELN):c.5455G>C (p.Glu1819Gln)
|
rs201017713
|
0.00003
|
NM_005045.4(RELN):c.5529+10A>T
|
rs371510474
|
0.00003
|
NM_005045.4(RELN):c.6079G>A (p.Val2027Ile)
|
rs753782715
|
0.00003
|
NM_005045.4(RELN):c.6123G>T (p.Leu2041=)
|
rs772766583
|
0.00003
|
NM_005045.4(RELN):c.6240C>T (p.Tyr2080=)
|
rs201505136
|
0.00003
|
NM_005045.4(RELN):c.6735C>T (p.Pro2245=)
|
rs1158442529
|
0.00003
|
NM_005045.4(RELN):c.6789G>A (p.Glu2263=)
|
rs748936767
|
0.00003
|
NM_005045.4(RELN):c.6888G>A (p.Pro2296=)
|
rs142792443
|
0.00003
|
NM_005045.4(RELN):c.7147G>A (p.Ala2383Thr)
|
rs978248682
|
0.00003
|
NM_005045.4(RELN):c.7310A>G (p.Lys2437Arg)
|
rs762951578
|
0.00003
|
NM_005045.4(RELN):c.7431C>T (p.Ile2477=)
|
rs775529885
|
0.00003
|
NM_005045.4(RELN):c.7568A>G (p.Asn2523Ser)
|
rs561828305
|
0.00003
|
NM_005045.4(RELN):c.7635C>T (p.Ala2545=)
|
rs114894883
|
0.00003
|
NM_005045.4(RELN):c.7953C>T (p.Asn2651=)
|
rs148056599
|
0.00003
|
NM_005045.4(RELN):c.795A>G (p.Gln265=)
|
rs749580328
|
0.00003
|
NM_005045.4(RELN):c.8174C>T (p.Ser2725Phe)
|
rs138975709
|
0.00003
|
NM_005045.4(RELN):c.850G>A (p.Val284Met)
|
rs149397714
|
0.00003
|
NM_005045.4(RELN):c.8624C>T (p.Pro2875Leu)
|
rs761738403
|
0.00003
|
NM_005045.4(RELN):c.8692A>G (p.Ser2898Gly)
|
rs773262289
|
0.00003
|
NM_005045.4(RELN):c.8703C>A (p.Ile2901=)
|
rs367803009
|
0.00003
|
NM_005045.4(RELN):c.8839G>A (p.Ala2947Thr)
|
rs141307064
|
0.00003
|
NM_005045.4(RELN):c.9110A>T (p.Glu3037Val)
|
rs200611412
|
0.00003
|
NM_005045.4(RELN):c.914A>G (p.Asn305Ser)
|
rs150372878
|
0.00003
|
NM_005045.4(RELN):c.9171A>G (p.Gln3057=)
|
rs746201944
|
0.00003
|
NM_005045.4(RELN):c.9282T>C (p.Tyr3094=)
|
rs1432133683
|
0.00003
|
NM_005045.4(RELN):c.9415G>A (p.Val3139Ile)
|
rs751817326
|
0.00003
|
NM_005045.4(RELN):c.957C>G (p.Ala319=)
|
rs1028221579
|
0.00003
|
NM_005045.4(RELN):c.9594T>C (p.His3198=)
|
rs145730672
|
0.00003
|
NM_005045.4(RELN):c.9750C>T (p.Asp3250=)
|
rs539337691
|
0.00003
|
NM_005045.4(RELN):c.9984-4T>G
|
rs750222270
|
0.00003
|
NM_005076.5(CNTN2):c.1002G>A (p.Ser334=)
|
rs766457094
|
0.00003
|
NM_005076.5(CNTN2):c.1110+10A>G
|
rs775868225
|
0.00003
|
NM_005076.5(CNTN2):c.1110+19C>G
|
rs752064350
|
0.00003
|
NM_005076.5(CNTN2):c.1221C>T (p.Ser407=)
|
rs774139246
|
0.00003
|
NM_005076.5(CNTN2):c.1240+18G>T
|
rs200630793
|
0.00003
|
NM_005076.5(CNTN2):c.1734G>A (p.Gln578=)
|
rs200403480
|
0.00003
|
NM_005076.5(CNTN2):c.1860C>T (p.Gly620=)
|
rs149350213
|
0.00003
|
NM_005076.5(CNTN2):c.1914C>T (p.Ile638=)
|
rs1193381104
|
0.00003
|
NM_005076.5(CNTN2):c.2037G>A (p.Met679Ile)
|
rs376343938
|
0.00003
|
NM_005076.5(CNTN2):c.2126-16C>T
|
rs202038605
|
0.00003
|
NM_005076.5(CNTN2):c.215+12G>A
|
rs769149441
|
0.00003
|
NM_005076.5(CNTN2):c.2340C>G (p.Pro780=)
|
rs975647789
|
0.00003
|
NM_005076.5(CNTN2):c.2880G>A (p.Thr960=)
|
rs1201954383
|
0.00003
|
NM_005076.5(CNTN2):c.2934C>A (p.Gly978=)
|
rs138851018
|
0.00003
|
NM_005076.5(CNTN2):c.513C>T (p.Asn171=)
|
rs371187600
|
0.00003
|
NM_005076.5(CNTN2):c.697+20G>A
|
rs906628634
|
0.00003
|
NM_005097.4(LGI1):c.132C>T (p.Ala44=)
|
rs751847276
|
0.00003
|
NM_005097.4(LGI1):c.1471A>G (p.Ile491Val)
|
rs756891254
|
0.00003
|
NM_005097.4(LGI1):c.300G>A (p.Ser100=)
|
rs1194691936
|
0.00003
|
NM_005097.4(LGI1):c.432-20C>T
|
rs895636677
|
0.00003
|
NM_005097.4(LGI1):c.75C>T (p.Leu25=)
|
rs144700062
|
0.00003
|
NM_005506.4(SCARB2):c.1116G>A (p.Leu372=)
|
rs564647544
|
0.00003
|
NM_005506.4(SCARB2):c.1263G>A (p.Thr421=)
|
rs137992547
|
0.00003
|
NM_005506.4(SCARB2):c.1332G>A (p.Ala444=)
|
rs768343387
|
0.00003
|
NM_005506.4(SCARB2):c.468C>T (p.Ile156=)
|
rs771468161
|
0.00003
|
NM_005506.4(SCARB2):c.582T>C (p.Asp194=)
|
rs772085575
|
0.00003
|
NM_005506.4(SCARB2):c.824+18A>G
|
rs755013803
|
0.00003
|
NM_005670.4(EPM2A):c.156G>A (p.Leu52=)
|
rs1196934711
|
0.00003
|
NM_005670.4(EPM2A):c.441T>C (p.Phe147=)
|
rs965931486
|
0.00003
|
NM_005670.4(EPM2A):c.762G>A (p.Ala254=)
|
rs199586710
|
0.00003
|
NM_005670.4(EPM2A):c.801C>T (p.Asn267=)
|
rs181746165
|
0.00003
|
NM_005670.4(EPM2A):c.807G>A (p.Gly269=)
|
rs755516128
|
0.00003
|
NM_005670.4(EPM2A):c.936G>A (p.Arg312=)
|
rs773315475
|
0.00003
|
NM_018100.4(EFHC1):c.105C>T (p.Asn35=)
|
rs534406651
|
0.00003
|
NM_018100.4(EFHC1):c.1279-9C>T
|
rs143254681
|
0.00003
|
NM_018100.4(EFHC1):c.1536T>G (p.Val512=)
|
rs775581363
|
0.00003
|
NM_018100.4(EFHC1):c.544C>T (p.Arg182Cys)
|
rs200191497
|
0.00003
|
NM_020822.3(KCNT1):c.111-8G>A
|
rs779128853
|
0.00003
|
NM_020822.3(KCNT1):c.1110G>A (p.Thr370=)
|
rs140367649
|
0.00003
|
NM_020822.3(KCNT1):c.1122G>T (p.Val374=)
|
rs774643792
|
0.00003
|
NM_020822.3(KCNT1):c.130G>T (p.Gly44Cys)
|
rs773228285
|
0.00003
|
NM_020822.3(KCNT1):c.1338-4G>A
|
rs963826986
|
0.00003
|
NM_020822.3(KCNT1):c.1395G>A (p.Thr465=)
|
rs777870376
|
0.00003
|
NM_020822.3(KCNT1):c.1407C>G (p.His469Gln)
|
rs537722828
|
0.00003
|
NM_020822.3(KCNT1):c.1449C>T (p.Pro483=)
|
rs765534465
|
0.00003
|
NM_020822.3(KCNT1):c.1593C>T (p.Thr531=)
|
rs749641549
|
0.00003
|
NM_020822.3(KCNT1):c.1620-15C>T
|
rs766797836
|
0.00003
|
NM_020822.3(KCNT1):c.1623G>A (p.Glu541=)
|
rs758644634
|
0.00003
|
NM_020822.3(KCNT1):c.1637C>T (p.Pro546Leu)
|
rs770986306
|
0.00003
|
NM_020822.3(KCNT1):c.1677C>T (p.Asn559=)
|
rs1028802868
|
0.00003
|
NM_020822.3(KCNT1):c.1680G>A (p.Glu560=)
|
rs143983055
|
0.00003
|
NM_020822.3(KCNT1):c.1806C>T (p.Asp602=)
|
rs1060505001
|
0.00003
|
NM_020822.3(KCNT1):c.2050A>C (p.Thr684Pro)
|
rs756570347
|
0.00003
|
NM_020822.3(KCNT1):c.2076C>T (p.Gly692=)
|
rs1267885761
|
0.00003
|
NM_020822.3(KCNT1):c.2097G>A (p.Thr699=)
|
rs762620377
|
0.00003
|
NM_020822.3(KCNT1):c.2109G>T (p.Ser703=)
|
rs767200583
|
0.00003
|
NM_020822.3(KCNT1):c.2201A>G (p.Asp734Gly)
|
rs1360863995
|
0.00003
|
NM_020822.3(KCNT1):c.2271G>A (p.Ser757=)
|
rs374981764
|
0.00003
|
NM_020822.3(KCNT1):c.233C>T (p.Pro78Leu)
|
rs771096934
|
0.00003
|
NM_020822.3(KCNT1):c.237C>T (p.Ser79=)
|
rs749179872
|
0.00003
|
NM_020822.3(KCNT1):c.2526C>T (p.Pro842=)
|
rs776258175
|
0.00003
|
NM_020822.3(KCNT1):c.2706C>T (p.Ile902=)
|
rs934780855
|
0.00003
|
NM_020822.3(KCNT1):c.2729+16G>A
|
rs373773787
|
0.00003
|
NM_020822.3(KCNT1):c.2729+19G>A
|
rs369987473
|
0.00003
|
NM_020822.3(KCNT1):c.2841+18G>A
|
rs763792397
|
0.00003
|
NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=)
|
rs141695705
|
0.00003
|
NM_020822.3(KCNT1):c.3157-17G>A
|
rs753593622
|
0.00003
|
NM_020822.3(KCNT1):c.3252C>T (p.Gly1084=)
|
rs948170691
|
0.00003
|
NM_020822.3(KCNT1):c.3274C>T (p.Arg1092Cys)
|
rs1060503695
|
0.00003
|
NM_020822.3(KCNT1):c.3275G>A (p.Arg1092His)
|
rs369576806
|
0.00003
|
NM_020822.3(KCNT1):c.3297C>T (p.Pro1099=)
|
rs759060691
|
0.00003
|
NM_020822.3(KCNT1):c.3368A>G (p.Gln1123Arg)
|
rs775015763
|
0.00003
|
NM_020822.3(KCNT1):c.3410G>A (p.Arg1137His)
|
rs568818508
|
0.00003
|
NM_020822.3(KCNT1):c.600+9C>T
|
rs1287458024
|
0.00003
|
NM_020822.3(KCNT1):c.60G>A (p.Gly20=)
|
rs777349172
|
0.00003
|
NM_020822.3(KCNT1):c.732G>A (p.Leu244=)
|
rs759580596
|
0.00003
|
NM_021267.5(CERS1):c.410-10C>T
|
rs377152682
|
0.00003
|
NM_021267.5(CERS1):c.417G>A (p.Thr139=)
|
rs372257242
|
0.00003
|
NM_021267.5(CERS1):c.590+9A>G
|
rs200695801
|
0.00003
|
NM_021267.5(CERS1):c.768C>A (p.Leu256=)
|
rs764610749
|
0.00003
|
NM_032737.4(LMNB2):c.1167C>T (p.Asn389=)
|
rs1180060175
|
0.00003
|
NM_032737.4(LMNB2):c.1239C>T (p.Thr413=)
|
rs552964496
|
0.00003
|
NM_032737.4(LMNB2):c.1278C>T (p.Ser426=)
|
rs202012198
|
0.00003
|
NM_032737.4(LMNB2):c.1284C>T (p.Thr428=)
|
rs753730680
|
0.00003
|
NM_032737.4(LMNB2):c.1298G>A (p.Arg433His)
|
rs770685785
|
0.00003
|
NM_032737.4(LMNB2):c.1312C>T (p.Arg438Trp)
|
rs780728738
|
0.00003
|
NM_032737.4(LMNB2):c.1403C>G (p.Ala468Gly)
|
rs766297775
|
0.00003
|
NM_032737.4(LMNB2):c.1413G>A (p.Ser471=)
|
rs776051907
|
0.00003
|
NM_032737.4(LMNB2):c.1482+7G>A
|
rs761605440
|
0.00003
|
NM_032737.4(LMNB2):c.1539C>T (p.Ile513=)
|
rs748878665
|
0.00003
|
NM_032737.4(LMNB2):c.1575C>T (p.Ala525=)
|
rs140216957
|
0.00003
|
NM_032737.4(LMNB2):c.1710+14G>T
|
rs978396284
|
0.00003
|
NM_032737.4(LMNB2):c.1737G>C (p.Lys579Asn)
|
rs150787379
|
0.00003
|
NM_032737.4(LMNB2):c.1743G>C (p.Ser581=)
|
rs142082911
|
0.00003
|
NM_032737.4(LMNB2):c.1852T>C (p.Tyr618His)
|
rs559532964
|
0.00003
|
NM_032737.4(LMNB2):c.666G>A (p.Arg222=)
|
rs376727524
|
0.00003
|
NM_153026.3(PRICKLE1):c.2091C>T (p.Pro697=)
|
rs756787066
|
0.00003
|
NM_153026.3(PRICKLE1):c.2265C>T (p.Tyr755=)
|
rs148989635
|
0.00003
|
NM_153026.3(PRICKLE1):c.612A>C (p.Thr204=)
|
rs755994241
|
0.00003
|
NM_153033.5(KCTD7):c.132G>A (p.Leu44=)
|
rs1057523155
|
0.00003
|
NM_153033.5(KCTD7):c.171C>T (p.Ile57=)
|
rs376524066
|
0.00003
|
NM_153033.5(KCTD7):c.519C>T (p.Ile173=)
|
rs866499042
|
0.00003
|
NM_178013.4(PRIMA1):c.393C>T (p.Ser131=)
|
rs375379166
|
0.00003
|
NM_198586.3(NHLRC1):c.1017T>C (p.Ser339=)
|
rs747655441
|
0.00003
|
NM_198586.3(NHLRC1):c.855G>C (p.Leu285=)
|
rs375475285
|
0.00003
|
NM_000100.4(CSTB):c.168+13C>T
|
rs910966552
|
0.00002
|
NM_000100.4(CSTB):c.180C>T (p.Gly60=)
|
rs771027631
|
0.00002
|
NM_000742.4(CHRNA2):c.1165C>T (p.Leu389Phe)
|
rs796052303
|
0.00002
|
NM_000742.4(CHRNA2):c.1270G>A (p.Ala424Thr)
|
rs767138285
|
0.00002
|
NM_000742.4(CHRNA2):c.247G>A (p.Val83Met)
|
rs757700781
|
0.00002
|
NM_000742.4(CHRNA2):c.472A>G (p.Thr158Ala)
|
rs756730967
|
0.00002
|
NM_000742.4(CHRNA2):c.558C>T (p.Asp186=)
|
rs749496919
|
0.00002
|
NM_000742.4(CHRNA2):c.600G>A (p.Lys200=)
|
rs764830161
|
0.00002
|
NM_000742.4(CHRNA2):c.762C>T (p.Asp254=)
|
rs769975305
|
0.00002
|
NM_000742.4(CHRNA2):c.874G>A (p.Asp292Asn)
|
rs774054592
|
0.00002
|
NM_000742.4(CHRNA2):c.924C>T (p.Thr308=)
|
rs752321195
|
0.00002
|
NM_000744.7(CHRNA4):c.1012C>G (p.His338Asp)
|
rs200069626
|
0.00002
|
NM_000744.7(CHRNA4):c.1050C>T (p.Asp350=)
|
rs751875597
|
0.00002
|
NM_000744.7(CHRNA4):c.1083G>A (p.Pro361=)
|
rs202140852
|
0.00002
|
NM_000744.7(CHRNA4):c.1109G>A (p.Arg370Gln)
|
rs121912267
|
0.00002
|
NM_000744.7(CHRNA4):c.1110G>A (p.Arg370=)
|
rs150852982
|
0.00002
|
NM_000744.7(CHRNA4):c.1215A>G (p.Ser405=)
|
rs1171154554
|
0.00002
|
NM_000744.7(CHRNA4):c.1217C>T (p.Pro406Leu)
|
rs777222517
|
0.00002
|
NM_000744.7(CHRNA4):c.1337C>T (p.Pro446Leu)
|
rs769897766
|
0.00002
|
NM_000744.7(CHRNA4):c.1376G>A (p.Gly459Glu)
|
rs753201154
|
0.00002
|
NM_000744.7(CHRNA4):c.1395C>T (p.Ser465=)
|
rs748016098
|
0.00002
|
NM_000744.7(CHRNA4):c.13G>A (p.Gly5Ser)
|
rs1043176387
|
0.00002
|
NM_000744.7(CHRNA4):c.1421C>G (p.Pro474Arg)
|
rs199778549
|
0.00002
|
NM_000744.7(CHRNA4):c.1531G>T (p.Ala511Ser)
|
rs200795334
|
0.00002
|
NM_000744.7(CHRNA4):c.1617G>A (p.Ser539=)
|
rs779117156
|
0.00002
|
NM_000744.7(CHRNA4):c.1661C>T (p.Pro554Leu)
|
rs56000199
|
0.00002
|
NM_000744.7(CHRNA4):c.1685C>T (p.Pro562Leu)
|
rs200750362
|
0.00002
|
NM_000744.7(CHRNA4):c.1710C>T (p.Gly570=)
|
rs1259026322
|
0.00002
|
NM_000744.7(CHRNA4):c.1732C>T (p.Leu578=)
|
rs199506324
|
0.00002
|
NM_000744.7(CHRNA4):c.1779C>T (p.Tyr593=)
|
rs201347598
|
0.00002
|
NM_000744.7(CHRNA4):c.194G>A (p.Arg65His)
|
rs200867143
|
0.00002
|
NM_000744.7(CHRNA4):c.254C>T (p.Thr85Met)
|
rs199699339
|
0.00002
|
NM_000744.7(CHRNA4):c.273+13G>A
|
rs1016874156
|
0.00002
|
NM_000744.7(CHRNA4):c.345C>T (p.Ser115=)
|
rs201033859
|
0.00002
|
NM_000744.7(CHRNA4):c.35T>C (p.Leu12Pro)
|
rs1060503516
|
0.00002
|
NM_000744.7(CHRNA4):c.384-14C>G
|
rs202150684
|
0.00002
|
NM_000744.7(CHRNA4):c.390C>T (p.Asp130=)
|
rs375014053
|
0.00002
|
NM_000744.7(CHRNA4):c.401C>T (p.Ala134Val)
|
rs201376529
|
0.00002
|
NM_000744.7(CHRNA4):c.510C>T (p.Phe170=)
|
rs121912247
|
0.00002
|
NM_000744.7(CHRNA4):c.560C>G (p.Ala187Gly)
|
rs200197645
|
0.00002
|
NM_000744.7(CHRNA4):c.712G>A (p.Val238Ile)
|
rs745790876
|
0.00002
|
NM_000744.7(CHRNA4):c.961A>G (p.Ile321Val)
|
rs375340441
|
0.00002
|
NM_000744.7(CHRNA4):c.964G>A (p.Val322Ile)
|
rs779790555
|
0.00002
|
NM_000744.7(CHRNA4):c.971C>T (p.Thr324Met)
|
rs531615515
|
0.00002
|
NM_000748.3(CHRNB2):c.1035G>T (p.Ala345=)
|
rs778458803
|
0.00002
|
NM_000748.3(CHRNB2):c.1080C>A (p.Arg360=)
|
rs1180459670
|
0.00002
|
NM_000748.3(CHRNB2):c.1091G>A (p.Arg364Gln)
|
rs751625142
|
0.00002
|
NM_000748.3(CHRNB2):c.1146A>G (p.Pro382=)
|
rs201986342
|
0.00002
|
NM_000748.3(CHRNB2):c.1305A>G (p.Ala435=)
|
rs1464819058
|
0.00002
|
NM_000748.3(CHRNB2):c.211-20G>C
|
rs768075022
|
0.00002
|
NM_000748.3(CHRNB2):c.453C>T (p.Tyr151=)
|
rs781506269
|
0.00002
|
NM_000748.3(CHRNB2):c.65-9C>T
|
rs774799731
|
0.00002
|
NM_000748.3(CHRNB2):c.891C>T (p.Val297=)
|
rs750455908
|
0.00002
|
NM_000748.3(CHRNB2):c.945C>T (p.Ser315=)
|
rs199549612
|
0.00002
|
NM_001077350.3(NPRL3):c.1032-8G>A
|
rs370350676
|
0.00002
|
NM_001077350.3(NPRL3):c.1162-1G>C
|
rs751418986
|
0.00002
|
NM_001077350.3(NPRL3):c.119-18C>T
|
rs1452152293
|
0.00002
|
NM_001077350.3(NPRL3):c.1323G>A (p.Thr441=)
|
rs770952322
|
0.00002
|
NM_001077350.3(NPRL3):c.1625T>C (p.Met542Thr)
|
rs185556688
|
0.00002
|
NM_001077350.3(NPRL3):c.432C>T (p.Asn144=)
|
rs371406653
|
0.00002
|
NM_001077350.3(NPRL3):c.645C>T (p.Gly215=)
|
rs770998374
|
0.00002
|
NM_001077350.3(NPRL3):c.735A>C (p.Pro245=)
|
rs775687534
|
0.00002
|
NM_001077350.3(NPRL3):c.88A>C (p.Arg30=)
|
rs542337990
|
0.00002
|
NM_001099403.2(PRDM8):c.1134G>A (p.Thr378=)
|
rs944679589
|
0.00002
|
NM_001099403.2(PRDM8):c.1197G>A (p.Gln399=)
|
rs1474812924
|
0.00002
|
NM_001112741.2(KCNC1):c.1095C>T (p.Tyr365=)
|
rs569972571
|
0.00002
|
NM_001112741.2(KCNC1):c.1098C>T (p.Ala366=)
|
rs143559782
|
0.00002
|
NM_001112741.2(KCNC1):c.1119C>A (p.Pro373=)
|
rs143960025
|
0.00002
|
NM_001112741.2(KCNC1):c.1263G>A (p.Ala421=)
|
rs915600389
|
0.00002
|
NM_001112741.2(KCNC1):c.1326T>C (p.Tyr442=)
|
rs760728034
|
0.00002
|
NM_001112741.2(KCNC1):c.1392G>A (p.Pro464=)
|
rs754731923
|
0.00002
|
NM_001112741.2(KCNC1):c.1524G>A (p.Glu508=)
|
rs767680364
|
0.00002
|
NM_001112741.2(KCNC1):c.1662C>T (p.Tyr554=)
|
rs578025939
|
0.00002
|
NM_001112741.2(KCNC1):c.228G>A (p.Leu76=)
|
rs1309850181
|
0.00002
|
NM_001112741.2(KCNC1):c.709C>T (p.Arg237Trp)
|
rs150993414
|
0.00002
|
NM_001112741.2(KCNC1):c.762C>G (p.Val254=)
|
rs138647448
|
0.00002
|
NM_001112741.2(KCNC1):c.960C>T (p.Arg320=)
|
rs776391602
|
0.00002
|
NM_001112741.2(KCNC1):c.96G>A (p.Thr32=)
|
rs140637569
|
0.00002
|
NM_001122752.2(SERPINI1):c.192C>T (p.Ala64=)
|
rs889665899
|
0.00002
|
NM_001122752.2(SERPINI1):c.980-7T>G
|
rs1459038029
|
0.00002
|
NM_001134407.3(GRIN2A):c.1161C>T (p.His387=)
|
rs367543146
|
0.00002
|
NM_001134407.3(GRIN2A):c.1201C>G (p.Pro401Ala)
|
rs762535029
|
0.00002
|
NM_001134407.3(GRIN2A):c.1224C>T (p.Ile408=)
|
rs776264780
|
0.00002
|
NM_001134407.3(GRIN2A):c.1245A>T (p.Pro415=)
|
rs375920773
|
0.00002
|
NM_001134407.3(GRIN2A):c.1328+16G>A
|
rs1460561060
|
0.00002
|
NM_001134407.3(GRIN2A):c.1380C>T (p.Cys460=)
|
rs375291296
|
0.00002
|
NM_001134407.3(GRIN2A):c.1652-4G>A
|
rs755304312
|
0.00002
|
NM_001134407.3(GRIN2A):c.1757G>A (p.Arg586Lys)
|
rs768958947
|
0.00002
|
NM_001134407.3(GRIN2A):c.179C>T (p.Ala60Val)
|
rs758117698
|
0.00002
|
NM_001134407.3(GRIN2A):c.1842T>C (p.Asn614=)
|
rs138236719
|
0.00002
|
NM_001134407.3(GRIN2A):c.1911C>T (p.Phe637=)
|
rs150432804
|
0.00002
|
NM_001134407.3(GRIN2A):c.2441T>C (p.Ile814Thr)
|
rs780654733
|
0.00002
|
NM_001134407.3(GRIN2A):c.2554G>A (p.Val852Met)
|
rs150316865
|
0.00002
|
NM_001134407.3(GRIN2A):c.2595+11C>T
|
rs768282034
|
0.00002
|
NM_001134407.3(GRIN2A):c.2650G>A (p.Asp884Asn)
|
rs777684328
|
0.00002
|
NM_001134407.3(GRIN2A):c.2652C>T (p.Asp884=)
|
rs755207993
|
0.00002
|
NM_001134407.3(GRIN2A):c.3028C>A (p.Pro1010Thr)
|
rs753651908
|
0.00002
|
NM_001134407.3(GRIN2A):c.3338C>T (p.Pro1113Leu)
|
rs201698049
|
0.00002
|
NM_001134407.3(GRIN2A):c.3432C>T (p.Asn1144=)
|
rs746900457
|
0.00002
|
NM_001134407.3(GRIN2A):c.3532C>A (p.Leu1178Ile)
|
rs377152953
|
0.00002
|
NM_001134407.3(GRIN2A):c.39G>A (p.Pro13=)
|
rs776479105
|
0.00002
|
NM_001134407.3(GRIN2A):c.414+13A>T
|
rs752708809
|
0.00002
|
NM_001134407.3(GRIN2A):c.414+15_414+16del
|
rs773960093
|
0.00002
|
NM_001134407.3(GRIN2A):c.414+7C>T
|
rs748888605
|
0.00002
|
NM_001134407.3(GRIN2A):c.4152G>A (p.Ser1384=)
|
rs747359798
|
0.00002
|
NM_001134407.3(GRIN2A):c.4188G>A (p.Val1396=)
|
rs757189822
|
0.00002
|
NM_001134407.3(GRIN2A):c.4227A>G (p.Ala1409=)
|
rs765372126
|
0.00002
|
NM_001134407.3(GRIN2A):c.423G>A (p.Thr141=)
|
rs527558415
|
0.00002
|
NM_001134407.3(GRIN2A):c.4313T>C (p.Met1438Thr)
|
rs200593691
|
0.00002
|
NM_001134407.3(GRIN2A):c.4355G>A (p.Arg1452His)
|
rs774039446
|
0.00002
|
NM_001134407.3(GRIN2A):c.468G>A (p.Thr156=)
|
rs773513210
|
0.00002
|
NM_001134407.3(GRIN2A):c.735C>T (p.Ser245=)
|
rs760446221
|
0.00002
|
NM_001134407.3(GRIN2A):c.870G>A (p.Ala290=)
|
rs1331462860
|
0.00002
|
NM_001134407.3(GRIN2A):c.91C>T (p.Pro31Ser)
|
rs199942034
|
0.00002
|
NM_001161352.2(KCNMA1):c.1224-4T>A
|
rs200167721
|
0.00002
|
NM_001161352.2(KCNMA1):c.1386G>A (p.Gln462=)
|
rs778546494
|
0.00002
|
NM_001161352.2(KCNMA1):c.1431A>G (p.Ala477=)
|
rs761129178
|
0.00002
|
NM_001161352.2(KCNMA1):c.1523+19C>T
|
rs200962787
|
0.00002
|
NM_001161352.2(KCNMA1):c.1551G>A (p.Pro517=)
|
rs200146500
|
0.00002
|
NM_001161352.2(KCNMA1):c.1653C>T (p.Leu551=)
|
rs768361935
|
0.00002
|
NM_001161352.2(KCNMA1):c.1666T>C (p.Leu556=)
|
rs747382420
|
0.00002
|
NM_001161352.2(KCNMA1):c.1750-6C>T
|
rs1475541628
|
0.00002
|
NM_001161352.2(KCNMA1):c.1928+10C>T
|
rs200921631
|
0.00002
|
NM_001161352.2(KCNMA1):c.2664G>A (p.Arg888=)
|
rs1430010589
|
0.00002
|
NM_001161352.2(KCNMA1):c.2715G>A (p.Thr905=)
|
rs977509447
|
0.00002
|
NM_001161352.2(KCNMA1):c.2748C>T (p.Asn916=)
|
rs766016095
|
0.00002
|
NM_001161352.2(KCNMA1):c.2916A>G (p.Pro972=)
|
rs370156084
|
0.00002
|
NM_001161352.2(KCNMA1):c.2955C>T (p.His985=)
|
rs373428657
|
0.00002
|
NM_001161352.2(KCNMA1):c.3138C>G (p.Leu1046=)
|
rs766964098
|
0.00002
|
NM_001161352.2(KCNMA1):c.3318C>T (p.Leu1106=)
|
rs779632278
|
0.00002
|
NM_001161352.2(KCNMA1):c.3337T>C (p.Leu1113=)
|
rs756169265
|
0.00002
|
NM_001161352.2(KCNMA1):c.3342+17G>A
|
rs200698450
|
0.00002
|
NM_001161352.2(KCNMA1):c.3546C>T (p.Ala1182=)
|
rs200763661
|
0.00002
|
NM_001161352.2(KCNMA1):c.379-17G>A
|
rs758487253
|
0.00002
|
NM_001161352.2(KCNMA1):c.697-4C>T
|
rs200844223
|
0.00002
|
NM_001161352.2(KCNMA1):c.884+8G>A
|
rs777197385
|
0.00002
|
NM_001242896.3(DEPDC5):c.1144-9T>C
|
rs778100280
|
0.00002
|
NM_001242896.3(DEPDC5):c.1182C>T (p.Gly394=)
|
rs1289456216
|
0.00002
|
NM_001242896.3(DEPDC5):c.1227A>G (p.Thr409=)
|
rs747903572
|
0.00002
|
NM_001242896.3(DEPDC5):c.1416A>G (p.Pro472=)
|
rs930376201
|
0.00002
|
NM_001242896.3(DEPDC5):c.1833G>A (p.Thr611=)
|
rs773631908
|
0.00002
|
NM_001242896.3(DEPDC5):c.1938C>T (p.Ser646=)
|
rs781691674
|
0.00002
|
NM_001242896.3(DEPDC5):c.2105-4A>G
|
rs888653334
|
0.00002
|
NM_001242896.3(DEPDC5):c.2171-16_2171-15del
|
rs1491399062
|
0.00002
|
NM_001242896.3(DEPDC5):c.2250G>A (p.Pro750=)
|
rs758163770
|
0.00002
|
NM_001242896.3(DEPDC5):c.2271C>T (p.Thr757=)
|
rs373009424
|
0.00002
|
NM_001242896.3(DEPDC5):c.2355-16C>T
|
rs376110122
|
0.00002
|
NM_001242896.3(DEPDC5):c.279+9T>G
|
rs748123607
|
0.00002
|
NM_001242896.3(DEPDC5):c.2898C>T (p.Cys966=)
|
rs748986619
|
0.00002
|
NM_001242896.3(DEPDC5):c.3486-13C>T
|
rs770170407
|
0.00002
|
NM_001242896.3(DEPDC5):c.3606G>A (p.Pro1202=)
|
rs749703301
|
0.00002
|
NM_001242896.3(DEPDC5):c.3696+20C>T
|
rs368540141
|
0.00002
|
NM_001242896.3(DEPDC5):c.4296C>T (p.Gly1432=)
|
rs755837385
|
0.00002
|
NM_001242896.3(DEPDC5):c.4436+7C>A
|
rs545252351
|
0.00002
|
NM_001242896.3(DEPDC5):c.4800C>T (p.Ala1600=)
|
rs754017226
|
0.00002
|
NM_001242896.3(DEPDC5):c.946+15C>T
|
rs780920916
|
0.00002
|
NM_001242896.3(DEPDC5):c.947-16T>C
|
rs372652646
|
0.00002
|
NM_004287.5(GOSR2):c.231C>T (p.Val77=)
|
rs774359254
|
0.00002
|
NM_004287.5(GOSR2):c.29+9C>T
|
rs951923133
|
0.00002
|
NM_004287.5(GOSR2):c.30-14T>C
|
rs756098096
|
0.00002
|
NM_004287.5(GOSR2):c.336+13C>T
|
rs562959681
|
0.00002
|
NM_004287.5(GOSR2):c.546C>T (p.Ile182=)
|
rs1023140976
|
0.00002
|
NM_004287.5(GOSR2):c.576T>C (p.Phe192=)
|
rs1433213435
|
0.00002
|
NM_004287.5(GOSR2):c.636A>G (p.Thr212=)
|
rs990159762
|
0.00002
|
NM_005045.4(RELN):c.10019C>T (p.Ser3340Leu)
|
rs1469215547
|
0.00002
|
NM_005045.4(RELN):c.10020G>A (p.Ser3340=)
|
rs760919496
|
0.00002
|
NM_005045.4(RELN):c.10025C>T (p.Thr3342Met)
|
rs201703640
|
0.00002
|
NM_005045.4(RELN):c.10078C>A (p.Leu3360Met)
|
rs372441410
|
0.00002
|
NM_005045.4(RELN):c.10104G>C (p.Gly3368=)
|
rs939866881
|
0.00002
|
NM_005045.4(RELN):c.10152A>G (p.Gln3384=)
|
rs763193763
|
0.00002
|
NM_005045.4(RELN):c.1192G>C (p.Gly398Arg)
|
rs1055488676
|
0.00002
|
NM_005045.4(RELN):c.1331C>T (p.Thr444Met)
|
rs558024670
|
0.00002
|
NM_005045.4(RELN):c.1521A>G (p.Ile507Met)
|
rs115637425
|
0.00002
|
NM_005045.4(RELN):c.1555-18G>C
|
rs368494804
|
0.00002
|
NM_005045.4(RELN):c.1555G>T (p.Val519Phe)
|
rs560704715
|
0.00002
|
NM_005045.4(RELN):c.1560G>A (p.Pro520=)
|
rs41276157
|
0.00002
|
NM_005045.4(RELN):c.166C>T (p.Leu56Phe)
|
rs777758550
|
0.00002
|
NM_005045.4(RELN):c.1687G>C (p.Val563Leu)
|
rs368090783
|
0.00002
|
NM_005045.4(RELN):c.1770C>T (p.Ser590=)
|
rs146938907
|
0.00002
|
NM_005045.4(RELN):c.1892+8C>T
|
rs778110423
|
0.00002
|
NM_005045.4(RELN):c.1936C>T (p.Arg646Trp)
|
rs115831287
|
0.00002
|
NM_005045.4(RELN):c.2002+14C>A
|
rs1432043969
|
0.00002
|
NM_005045.4(RELN):c.2086T>C (p.Ser696Pro)
|
rs765274194
|
0.00002
|
NM_005045.4(RELN):c.2160C>G (p.Leu720=)
|
rs749707289
|
0.00002
|
NM_005045.4(RELN):c.226+8C>T
|
rs369454305
|
0.00002
|
NM_005045.4(RELN):c.2403T>C (p.Tyr801=)
|
rs1039314161
|
0.00002
|
NM_005045.4(RELN):c.2440T>C (p.Ser814Pro)
|
rs764681189
|
0.00002
|
NM_005045.4(RELN):c.2466-6dup
|
rs749708758
|
0.00002
|
NM_005045.4(RELN):c.2673G>A (p.Gln891=)
|
rs201156261
|
0.00002
|
NM_005045.4(RELN):c.2688C>T (p.His896=)
|
rs368049278
|
0.00002
|
NM_005045.4(RELN):c.2689G>A (p.Asp897Asn)
|
rs115167821
|
0.00002
|
NM_005045.4(RELN):c.2876C>T (p.Thr959Ile)
|
rs1003803083
|
0.00002
|
NM_005045.4(RELN):c.3203C>A (p.Thr1068Lys)
|
rs758968274
|
0.00002
|
NM_005045.4(RELN):c.3260T>C (p.Ile1087Thr)
|
rs769746244
|
0.00002
|
NM_005045.4(RELN):c.3266G>C (p.Gly1089Ala)
|
rs768836895
|
0.00002
|
NM_005045.4(RELN):c.3287A>G (p.Gln1096Arg)
|
rs780325204
|
0.00002
|
NM_005045.4(RELN):c.330C>T (p.Phe110=)
|
rs1057521487
|
0.00002
|
NM_005045.4(RELN):c.3540-14T>A
|
rs754915287
|
0.00002
|
NM_005045.4(RELN):c.3592C>T (p.Arg1198Cys)
|
rs770490289
|
0.00002
|
NM_005045.4(RELN):c.3693C>T (p.Ile1231=)
|
rs768631367
|
0.00002
|
NM_005045.4(RELN):c.3712-10T>G
|
rs1436822883
|
0.00002
|
NM_005045.4(RELN):c.378C>T (p.Cys126=)
|
rs576903015
|
0.00002
|
NM_005045.4(RELN):c.3952C>G (p.Pro1318Ala)
|
rs140090640
|
0.00002
|
NM_005045.4(RELN):c.4047A>C (p.Gly1349=)
|
rs769654805
|
0.00002
|
NM_005045.4(RELN):c.4135C>T (p.Leu1379Phe)
|
rs1295939107
|
0.00002
|
NM_005045.4(RELN):c.4145+11C>T
|
rs761694952
|
0.00002
|
NM_005045.4(RELN):c.4480C>T (p.Arg1494Trp)
|
rs140263617
|
0.00002
|
NM_005045.4(RELN):c.462T>C (p.Cys154=)
|
rs763130989
|
0.00002
|
NM_005045.4(RELN):c.4740G>A (p.Pro1580=)
|
rs377118940
|
0.00002
|
NM_005045.4(RELN):c.4856A>G (p.Asn1619Ser)
|
rs977907677
|
0.00002
|
NM_005045.4(RELN):c.4983T>A (p.Ser1661=)
|
rs758797491
|
0.00002
|
NM_005045.4(RELN):c.5013C>A (p.Gly1671=)
|
rs758902738
|
0.00002
|
NM_005045.4(RELN):c.5016T>C (p.Cys1672=)
|
rs983510937
|
0.00002
|
NM_005045.4(RELN):c.5042G>A (p.Ser1681Asn)
|
rs140931550
|
0.00002
|
NM_005045.4(RELN):c.5211-19T>G
|
rs781738694
|
0.00002
|
NM_005045.4(RELN):c.5273C>T (p.Ala1758Val)
|
rs753433967
|
0.00002
|
NM_005045.4(RELN):c.5403C>G (p.Pro1801=)
|
rs747618744
|
0.00002
|
NM_005045.4(RELN):c.5406G>A (p.Ser1802=)
|
rs780846874
|
0.00002
|
NM_005045.4(RELN):c.5419G>A (p.Asp1807Asn)
|
rs558284872
|
0.00002
|
NM_005045.4(RELN):c.5490T>A (p.Gly1830=)
|
rs774954791
|
0.00002
|
NM_005045.4(RELN):c.5615-16G>A
|
rs1554377679
|
0.00002
|
NM_005045.4(RELN):c.5832C>T (p.Phe1944=)
|
rs767598814
|
0.00002
|
NM_005045.4(RELN):c.5949A>G (p.Pro1983=)
|
rs755847158
|
0.00002
|
NM_005045.4(RELN):c.6106G>A (p.Ala2036Thr)
|
rs371614773
|
0.00002
|
NM_005045.4(RELN):c.6147G>A (p.Ala2049=)
|
rs116750302
|
0.00002
|
NM_005045.4(RELN):c.6213C>T (p.Thr2071=)
|
rs554215103
|
0.00002
|
NM_005045.4(RELN):c.6302+10C>T
|
rs763483901
|
0.00002
|
NM_005045.4(RELN):c.6382A>G (p.Ile2128Val)
|
rs766193427
|
0.00002
|
NM_005045.4(RELN):c.6404T>C (p.Met2135Thr)
|
rs769784565
|
0.00002
|
NM_005045.4(RELN):c.6736G>A (p.Val2246Met)
|
rs201561165
|
0.00002
|
NM_005045.4(RELN):c.6890C>G (p.Ser2297Cys)
|
rs770361860
|
0.00002
|
NM_005045.4(RELN):c.6984A>G (p.Thr2328=)
|
rs760013736
|
0.00002
|
NM_005045.4(RELN):c.6986C>T (p.Thr2329Ile)
|
rs201403495
|
0.00002
|
NM_005045.4(RELN):c.7180+15T>C
|
rs1262711164
|
0.00002
|
NM_005045.4(RELN):c.7282C>T (p.Arg2428Trp)
|
rs751431158
|
0.00002
|
NM_005045.4(RELN):c.7754T>G (p.Ile2585Ser)
|
rs536676938
|
0.00002
|
NM_005045.4(RELN):c.7885C>G (p.Pro2629Ala)
|
rs140515422
|
0.00002
|
NM_005045.4(RELN):c.7916G>A (p.Arg2639His)
|
rs369735904
|
0.00002
|
NM_005045.4(RELN):c.8004C>T (p.Thr2668=)
|
rs368087558
|
0.00002
|
NM_005045.4(RELN):c.8029G>A (p.Ala2677Thr)
|
rs747571208
|
0.00002
|
NM_005045.4(RELN):c.8085C>T (p.Ile2695=)
|
rs138241126
|
0.00002
|
NM_005045.4(RELN):c.8119+15G>A
|
rs1388109815
|
0.00002
|
NM_005045.4(RELN):c.8153C>T (p.Thr2718Ile)
|
rs1299766612
|
0.00002
|
NM_005045.4(RELN):c.8181T>G (p.Asp2727Glu)
|
rs778861276
|
0.00002
|
NM_005045.4(RELN):c.8239C>A (p.Leu2747Met)
|
rs775082646
|
0.00002
|
NM_005045.4(RELN):c.8274+7T>C
|
rs777738604
|
0.00002
|
NM_005045.4(RELN):c.8595T>C (p.Asp2865=)
|
rs751152954
|
0.00002
|
NM_005045.4(RELN):c.8640A>G (p.Pro2880=)
|
rs369307806
|
0.00002
|
NM_005045.4(RELN):c.8668-8A>C
|
rs756973928
|
0.00002
|
NM_005045.4(RELN):c.8766C>T (p.Ala2922=)
|
rs115560688
|
0.00002
|
NM_005045.4(RELN):c.9237T>C (p.Ala3079=)
|
rs749707073
|
0.00002
|
NM_005045.4(RELN):c.9444-7T>C
|
rs905003547
|
0.00002
|
NM_005045.4(RELN):c.9606-4T>G
|
rs768402555
|
0.00002
|
NM_005045.4(RELN):c.9680T>C (p.Ile3227Thr)
|
rs1186557649
|
0.00002
|
NM_005045.4(RELN):c.9729C>T (p.Thr3243=)
|
rs145542111
|
0.00002
|
NM_005045.4(RELN):c.9756C>T (p.Ser3252=)
|
rs1344740466
|
0.00002
|
NM_005045.4(RELN):c.9933C>T (p.Gly3311=)
|
rs532153046
|
0.00002
|
NM_005076.5(CNTN2):c.1050C>T (p.Ala350=)
|
rs142610365
|
0.00002
|
NM_005076.5(CNTN2):c.1233C>T (p.Ala411=)
|
rs748305651
|
0.00002
|
NM_005076.5(CNTN2):c.1290G>A (p.Ala430=)
|
rs748381947
|
0.00002
|
NM_005076.5(CNTN2):c.159G>A (p.Thr53=)
|
rs907497961
|
0.00002
|
NM_005076.5(CNTN2):c.1608C>T (p.Pro536=)
|
rs771101678
|
0.00002
|
NM_005076.5(CNTN2):c.1696-8G>A
|
rs766657667
|
0.00002
|
NM_005076.5(CNTN2):c.2111G>A (p.Arg704Gln)
|
rs139732381
|
0.00002
|
NM_005076.5(CNTN2):c.216-9C>T
|
rs577845981
|
0.00002
|
NM_005076.5(CNTN2):c.2545-20G>T
|
rs749089664
|
0.00002
|
NM_005076.5(CNTN2):c.2736G>A (p.Pro912=)
|
rs746965528
|
0.00002
|
NM_005076.5(CNTN2):c.2845-5C>T
|
rs1239961379
|
0.00002
|
NM_005076.5(CNTN2):c.2879C>T (p.Thr960Met)
|
rs752800918
|
0.00002
|
NM_005076.5(CNTN2):c.391+11C>T
|
rs750562954
|
0.00002
|
NM_005076.5(CNTN2):c.392-14G>T
|
rs148381903
|
0.00002
|
NM_005076.5(CNTN2):c.552C>T (p.Phe184=)
|
rs777614226
|
0.00002
|
NM_005076.5(CNTN2):c.70+16T>A
|
rs1212916132
|
0.00002
|
NM_005076.5(CNTN2):c.71-6C>T
|
rs749400715
|
0.00002
|
NM_005097.4(LGI1):c.216-15T>C
|
rs1008193551
|
0.00002
|
NM_005097.4(LGI1):c.276G>A (p.Ser92=)
|
rs377278767
|
0.00002
|
NM_005097.4(LGI1):c.287+15T>C
|
rs775813063
|
0.00002
|
NM_005097.4(LGI1):c.648G>A (p.Ser216=)
|
rs779577088
|
0.00002
|
NM_005097.4(LGI1):c.768T>C (p.Phe256=)
|
rs372978335
|
0.00002
|
NM_005506.4(SCARB2):c.275+14A>G
|
rs759250571
|
0.00002
|
NM_005506.4(SCARB2):c.291A>G (p.Lys97=)
|
rs377635556
|
0.00002
|
NM_005506.4(SCARB2):c.825-8C>T
|
rs201397845
|
0.00002
|
NM_005506.4(SCARB2):c.904T>C (p.Leu302=)
|
rs377511764
|
0.00002
|
NM_005506.4(SCARB2):c.96T>C (p.Ala32=)
|
rs752537434
|
0.00002
|
NM_005670.4(EPM2A):c.154C>T (p.Leu52=)
|
rs1266603162
|
0.00002
|
NM_005670.4(EPM2A):c.249G>A (p.Thr83=)
|
rs1468442057
|
0.00002
|
NM_005670.4(EPM2A):c.261G>A (p.Lys87=)
|
rs755681637
|
0.00002
|
NM_005670.4(EPM2A):c.302-12T>C
|
rs771456156
|
0.00002
|
NM_005670.4(EPM2A):c.345C>T (p.Asn115=)
|
rs764231649
|
0.00002
|
NM_005670.4(EPM2A):c.477-13A>G
|
rs778452911
|
0.00002
|
NM_005670.4(EPM2A):c.620G>A (p.Arg207His)
|
rs571938170
|
0.00002
|
NM_005670.4(EPM2A):c.69G>T (p.Val23=)
|
rs951254850
|
0.00002
|
NM_005670.4(EPM2A):c.768G>A (p.Leu256=)
|
rs753561820
|
0.00002
|
NM_005670.4(EPM2A):c.825G>A (p.Ala275=)
|
rs762115387
|
0.00002
|
NM_005670.4(EPM2A):c.924G>A (p.Glu308=)
|
rs1439211009
|
0.00002
|
NM_018100.4(EFHC1):c.1389G>A (p.Gly463=)
|
rs772874099
|
0.00002
|
NM_018100.4(EFHC1):c.1494G>A (p.Val498=)
|
rs1252426853
|
0.00002
|
NM_018100.4(EFHC1):c.1557C>T (p.Asn519=)
|
rs773385237
|
0.00002
|
NM_018100.4(EFHC1):c.1629A>G (p.Pro543=)
|
rs1422352360
|
0.00002
|
NM_018100.4(EFHC1):c.546C>T (p.Arg182=)
|
rs377349630
|
0.00002
|
NM_018100.4(EFHC1):c.618G>A (p.Lys206=)
|
rs1374718335
|
0.00002
|
NM_020822.3(KCNT1):c.1038C>T (p.Phe346=)
|
rs767434859
|
0.00002
|
NM_020822.3(KCNT1):c.104C>T (p.Ala35Val)
|
rs772080195
|
0.00002
|
NM_020822.3(KCNT1):c.1077A>G (p.Ser359=)
|
rs777409717
|
0.00002
|
NM_020822.3(KCNT1):c.1158C>G (p.Leu386=)
|
rs749974440
|
0.00002
|
NM_020822.3(KCNT1):c.1201-13G>A
|
rs576149390
|
0.00002
|
NM_020822.3(KCNT1):c.1201-14C>T
|
rs767283074
|
0.00002
|
NM_020822.3(KCNT1):c.1230G>A (p.Thr410=)
|
rs778178642
|
0.00002
|
NM_020822.3(KCNT1):c.1359C>T (p.Cys453=)
|
rs1455107112
|
0.00002
|
NM_020822.3(KCNT1):c.147C>T (p.Thr49=)
|
rs751274694
|
0.00002
|
NM_020822.3(KCNT1):c.1511-15C>T
|
rs1233580407
|
0.00002
|
NM_020822.3(KCNT1):c.1515C>T (p.His505=)
|
rs148302564
|
0.00002
|
NM_020822.3(KCNT1):c.1554G>A (p.Ala518=)
|
rs756721305
|
0.00002
|
NM_020822.3(KCNT1):c.1563C>T (p.Cys521=)
|
rs377263803
|
0.00002
|
NM_020822.3(KCNT1):c.15C>T (p.Asp5=)
|
rs771669111
|
0.00002
|
NM_020822.3(KCNT1):c.1619+11C>T
|
rs773278543
|
0.00002
|
NM_020822.3(KCNT1):c.16G>A (p.Gly6Arg)
|
rs773874266
|
0.00002
|
NM_020822.3(KCNT1):c.1758C>T (p.His586=)
|
rs142760483
|
0.00002
|
NM_020822.3(KCNT1):c.1759G>A (p.Ala587Thr)
|
rs144421853
|
0.00002
|
NM_020822.3(KCNT1):c.1803G>A (p.Glu601=)
|
rs376892911
|
0.00002
|
NM_020822.3(KCNT1):c.1854C>T (p.Ala618=)
|
rs1208098376
|
0.00002
|
NM_020822.3(KCNT1):c.1890G>A (p.Glu630=)
|
rs1326023054
|
0.00002
|
NM_020822.3(KCNT1):c.1927C>T (p.Arg643Trp)
|
rs532620254
|
0.00002
|
NM_020822.3(KCNT1):c.1947G>A (p.Ser649=)
|
rs779903423
|
0.00002
|
NM_020822.3(KCNT1):c.2008+9G>T
|
rs375088109
|
0.00002
|
NM_020822.3(KCNT1):c.2104G>A (p.Gly702Ser)
|
rs550447485
|
0.00002
|
NM_020822.3(KCNT1):c.219G>A (p.Leu73=)
|
rs758602991
|
0.00002
|
NM_020822.3(KCNT1):c.2321C>T (p.Ala774Val)
|
rs777479133
|
0.00002
|
NM_020822.3(KCNT1):c.2349+20C>T
|
rs375666062
|
0.00002
|
NM_020822.3(KCNT1):c.2350-13C>T
|
rs374333732
|
0.00002
|
NM_020822.3(KCNT1):c.2403G>A (p.Lys801=)
|
rs761739057
|
0.00002
|
NM_020822.3(KCNT1):c.2460A>G (p.Pro820=)
|
rs1219349050
|
0.00002
|
NM_020822.3(KCNT1):c.254+10G>C
|
rs772892562
|
0.00002
|
NM_020822.3(KCNT1):c.2580G>A (p.Glu860=)
|
rs763685503
|
0.00002
|
NM_020822.3(KCNT1):c.2595-8G>A
|
rs779012524
|
0.00002
|
NM_020822.3(KCNT1):c.2649G>A (p.Val883=)
|
rs766768602
|
0.00002
|
NM_020822.3(KCNT1):c.270C>T (p.Phe90=)
|
rs930841801
|
0.00002
|
NM_020822.3(KCNT1):c.2712C>T (p.Asn904=)
|
rs554237279
|
0.00002
|
NM_020822.3(KCNT1):c.2730-16C>T
|
rs571787446
|
0.00002
|
NM_020822.3(KCNT1):c.2730-3C>T
|
rs1193875216
|
0.00002
|
NM_020822.3(KCNT1):c.2895C>T (p.Ala965=)
|
rs776550763
|
0.00002
|
NM_020822.3(KCNT1):c.2949C>T (p.Phe983=)
|
rs764574987
|
0.00002
|
NM_020822.3(KCNT1):c.3196G>A (p.Val1066Met)
|
rs553389226
|
0.00002
|
NM_020822.3(KCNT1):c.3244C>T (p.Arg1082Cys)
|
rs776232246
|
0.00002
|
NM_020822.3(KCNT1):c.3247G>A (p.Ala1083Thr)
|
rs917893164
|
0.00002
|
NM_020822.3(KCNT1):c.3320G>A (p.Arg1107His)
|
rs756256138
|
0.00002
|
NM_020822.3(KCNT1):c.3376C>T (p.Arg1126Trp)
|
rs763400879
|
0.00002
|
NM_020822.3(KCNT1):c.3377G>A (p.Arg1126Gln)
|
rs769135500
|
0.00002
|
NM_020822.3(KCNT1):c.3380C>T (p.Ala1127Val)
|
rs774589071
|
0.00002
|
NM_020822.3(KCNT1):c.3393G>A (p.Glu1131=)
|
rs781111074
|
0.00002
|
NM_020822.3(KCNT1):c.3502+10C>T
|
rs771187830
|
0.00002
|
NM_020822.3(KCNT1):c.3502G>A (p.Asp1168Asn)
|
rs747317425
|
0.00002
|
NM_020822.3(KCNT1):c.3521A>G (p.Gln1174Arg)
|
rs761270493
|
0.00002
|
NM_020822.3(KCNT1):c.626G>A (p.Arg209His)
|
rs756952430
|
0.00002
|
NM_020822.3(KCNT1):c.762T>C (p.Asn254=)
|
rs1481356544
|
0.00002
|
NM_020822.3(KCNT1):c.843C>T (p.Leu281=)
|
rs780294486
|
0.00002
|
NM_020822.3(KCNT1):c.852G>A (p.Thr284=)
|
rs773023899
|
0.00002
|
NM_020822.3(KCNT1):c.854+14G>A
|
rs367694801
|
0.00002
|
NM_020822.3(KCNT1):c.879G>A (p.Glu293=)
|
rs557092185
|
0.00002
|
NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys)
|
rs146070496
|
0.00002
|
NM_020822.3(KCNT1):c.93C>T (p.Asp31=)
|
rs145033597
|
0.00002
|
NM_020822.3(KCNT1):c.951C>T (p.Tyr317=)
|
rs747685419
|
0.00002
|
NM_020822.3(KCNT1):c.958G>A (p.Val320Ile)
|
rs773718324
|
0.00002
|
NM_020822.3(KCNT1):c.999C>T (p.Ile333=)
|
rs764327750
|
0.00002
|
NM_021267.5(CERS1):c.1010+18C>T
|
rs759989196
|
0.00002
|
NM_021267.5(CERS1):c.18C>G (p.Pro6=)
|
rs1008352652
|
0.00002
|
NM_021267.5(CERS1):c.294G>A (p.Lys98=)
|
rs186889230
|
0.00002
|
NM_021267.5(CERS1):c.409+7G>T
|
rs368913904
|
0.00002
|
NM_021267.5(CERS1):c.410-17G>T
|
rs1050558355
|
0.00002
|
NM_032737.4(LMNB2):c.1029C>T (p.Ala343=)
|
rs749052582
|
0.00002
|
NM_032737.4(LMNB2):c.1567C>T (p.Leu523=)
|
rs373654310
|
0.00002
|
NM_032737.4(LMNB2):c.1710+7G>A
|
rs144445359
|
0.00002
|
NM_032737.4(LMNB2):c.1821+7C>A
|
rs201601901
|
0.00002
|
NM_032737.4(LMNB2):c.1830G>A (p.Pro610=)
|
rs748782215
|
0.00002
|
NM_032737.4(LMNB2):c.330G>A (p.Thr110=)
|
rs141214064
|
0.00002
|
NM_032737.4(LMNB2):c.440G>A (p.Gly147Asp)
|
rs768416033
|
0.00002
|
NM_032737.4(LMNB2):c.512G>A (p.Arg171His)
|
rs776205964
|
0.00002
|
NM_032737.4(LMNB2):c.51C>T (p.Ala17=)
|
rs918602786
|
0.00002
|
NM_032737.4(LMNB2):c.558+19G>A
|
rs750280525
|
0.00002
|
NM_032737.4(LMNB2):c.698C>T (p.Thr233Met)
|
rs779614513
|
0.00002
|
NM_032737.4(LMNB2):c.903T>C (p.Ser301=)
|
rs1477375411
|
0.00002
|
NM_032737.4(LMNB2):c.969C>A (p.Gly323=)
|
rs563690925
|
0.00002
|
NM_032737.4(LMNB2):c.981+20C>T
|
rs755258594
|
0.00002
|
NM_032737.4(LMNB2):c.982-5C>T
|
rs759160292
|
0.00002
|
NM_153026.3(PRICKLE1):c.1248G>A (p.Thr416=)
|
rs142502371
|
0.00002
|
NM_153026.3(PRICKLE1):c.1359C>T (p.Thr453=)
|
rs772484365
|
0.00002
|
NM_153026.3(PRICKLE1):c.2262C>G (p.Leu754=)
|
rs727504104
|
0.00002
|
NM_153026.3(PRICKLE1):c.447G>A (p.Val149=)
|
rs561240990
|
0.00002
|
NM_153026.3(PRICKLE1):c.819C>T (p.His273=)
|
rs763656364
|
0.00002
|
NM_153026.3(PRICKLE1):c.825G>A (p.Thr275=)
|
rs368347802
|
0.00002
|
NM_153026.3(PRICKLE1):c.861T>C (p.Ser287=)
|
rs537302175
|
0.00002
|
NM_153026.3(PRICKLE1):c.99C>T (p.Tyr33=)
|
rs764986581
|
0.00002
|
NM_153033.5(KCTD7):c.145-4C>T
|
rs368755155
|
0.00002
|
NM_153033.5(KCTD7):c.439C>T (p.Leu147=)
|
rs574847246
|
0.00002
|
NM_153033.5(KCTD7):c.493+14G>C
|
rs886645555
|
0.00002
|
NM_153033.5(KCTD7):c.494-11C>T
|
rs746601430
|
0.00002
|
NM_153033.5(KCTD7):c.494-14G>A
|
rs1198171302
|
0.00002
|
NM_153033.5(KCTD7):c.534G>A (p.Ala178=)
|
rs773060529
|
0.00002
|
NM_153033.5(KCTD7):c.594C>T (p.Pro198=)
|
rs749192199
|
0.00002
|
NM_153033.5(KCTD7):c.723T>G (p.Val241=)
|
rs771832195
|
0.00002
|
NM_178013.4(PRIMA1):c.183C>T (p.Pro61=)
|
rs762250308
|
0.00002
|
NM_178013.4(PRIMA1):c.225C>G (p.Ala75=)
|
rs1043994328
|
0.00002
|
NM_178013.4(PRIMA1):c.229+14C>T
|
rs374166523
|
0.00002
|
NM_178013.4(PRIMA1):c.294C>T (p.Ala98=)
|
rs765912878
|
0.00002
|
NM_198586.3(NHLRC1):c.111G>A (p.Gln37=)
|
rs143893542
|
0.00002
|
NM_198586.3(NHLRC1):c.579C>T (p.Ala193=)
|
rs202217857
|
0.00002
|
NM_000100.4(CSTB):c.135C>T (p.Ser45=)
|
rs375008755
|
0.00001
|
NM_000100.4(CSTB):c.169-10C>G
|
rs1487271257
|
0.00001
|
NM_000100.4(CSTB):c.174C>T (p.His58=)
|
rs763095750
|
0.00001
|
NM_000100.4(CSTB):c.177C>T (p.Val59=)
|
rs765477010
|
0.00001
|
NM_000100.4(CSTB):c.201G>A (p.Leu67=)
|
rs1249703879
|
0.00001
|
NM_000100.4(CSTB):c.213A>G (p.Gln71=)
|
rs758639236
|
0.00001
|
NM_000100.4(CSTB):c.243C>T (p.Thr81=)
|
rs2083999070
|
0.00001
|
NM_000100.4(CSTB):c.27G>C (p.Thr9=)
|
rs945357152
|
0.00001
|
NM_000742.4(CHRNA2):c.1014C>T (p.Phe338=)
|
rs780056270
|
0.00001
|
NM_000742.4(CHRNA2):c.1059C>T (p.His353=)
|
rs748482434
|
0.00001
|
NM_000742.4(CHRNA2):c.1098G>A (p.Val366=)
|
rs767782606
|
0.00001
|
NM_000742.4(CHRNA2):c.1145G>A (p.Arg382Gln)
|
rs888244000
|
0.00001
|
NM_000742.4(CHRNA2):c.1147C>A (p.Pro383Thr)
|
rs757169328
|
0.00001
|
NM_000742.4(CHRNA2):c.1159G>A (p.Val387Met)
|
rs749494357
|
0.00001
|
NM_000742.4(CHRNA2):c.1176C>T (p.Pro392=)
|
rs764346961
|
0.00001
|
NM_000742.4(CHRNA2):c.1180C>T (p.Arg394Cys)
|
rs1060503072
|
0.00001
|
NM_000742.4(CHRNA2):c.1200T>G (p.Ser400=)
|
rs150333280
|
0.00001
|
NM_000742.4(CHRNA2):c.1248G>C (p.Val416=)
|
rs370878600
|
0.00001
|
NM_000742.4(CHRNA2):c.12C>T (p.Ser4=)
|
rs1057522016
|
0.00001
|
NM_000742.4(CHRNA2):c.1318G>A (p.Gly440Ser)
|
rs1405035752
|
0.00001
|
NM_000742.4(CHRNA2):c.1335G>C (p.Gly445=)
|
rs544902151
|
0.00001
|
NM_000742.4(CHRNA2):c.1340C>T (p.Ser447Leu)
|
rs1812554029
|
0.00001
|
NM_000742.4(CHRNA2):c.1365G>T (p.Leu455=)
|
rs756635424
|
0.00001
|
NM_000742.4(CHRNA2):c.1368G>A (p.Gln456=)
|
rs370957296
|
0.00001
|
NM_000742.4(CHRNA2):c.1460C>T (p.Ser487Phe)
|
rs994299183
|
0.00001
|
NM_000742.4(CHRNA2):c.1464+10G>T
|
rs749942986
|
0.00001
|
NM_000742.4(CHRNA2):c.1464+7_1464+8del
|
rs763426344
|
0.00001
|
NM_000742.4(CHRNA2):c.1551C>T (p.Ile517=)
|
rs777412930
|
0.00001
|
NM_000742.4(CHRNA2):c.1552G>A (p.Gly518Ser)
|
rs755631456
|
0.00001
|
NM_000742.4(CHRNA2):c.1557C>A (p.Leu519=)
|
rs752689106
|
0.00001
|
NM_000742.4(CHRNA2):c.196C>G (p.Leu66Val)
|
rs1473197891
|
0.00001
|
NM_000742.4(CHRNA2):c.223C>T (p.Arg75Cys)
|
rs770949841
|
0.00001
|
NM_000742.4(CHRNA2):c.282G>A (p.Gln94=)
|
rs1812812900
|
0.00001
|
NM_000742.4(CHRNA2):c.294+4C>T
|
rs745958182
|
0.00001
|
NM_000742.4(CHRNA2):c.323A>C (p.Asn108Thr)
|
rs564532686
|
0.00001
|
NM_000742.4(CHRNA2):c.324C>T (p.Asn108=)
|
rs544939077
|
0.00001
|
NM_000742.4(CHRNA2):c.325G>A (p.Val109Ile)
|
rs1341647863
|
0.00001
|
NM_000742.4(CHRNA2):c.333A>G (p.Leu111=)
|
rs770131239
|
0.00001
|
NM_000742.4(CHRNA2):c.339+10C>A
|
rs746630071
|
0.00001
|
NM_000742.4(CHRNA2):c.340-8A>C
|
rs1427091098
|
0.00001
|
NM_000742.4(CHRNA2):c.346A>G (p.Ser116Gly)
|
rs777177252
|
0.00001
|
NM_000742.4(CHRNA2):c.347G>T (p.Ser116Ile)
|
rs541282922
|
0.00001
|
NM_000742.4(CHRNA2):c.381T>C (p.Phe127=)
|
rs1346753064
|
0.00001
|
NM_000742.4(CHRNA2):c.429C>T (p.Pro143=)
|
rs777692776
|
0.00001
|
NM_000742.4(CHRNA2):c.433A>G (p.Ile145Val)
|
rs1064795580
|
0.00001
|
NM_000742.4(CHRNA2):c.526C>T (p.Pro176Ser)
|
rs772750196
|
0.00001
|
NM_000742.4(CHRNA2):c.576C>T (p.Phe192=)
|
rs148009259
|
0.00001
|
NM_000742.4(CHRNA2):c.606C>T (p.Gly202=)
|
rs1812610117
|
0.00001
|
NM_000742.4(CHRNA2):c.609C>T (p.Ser203=)
|
rs761237311
|
0.00001
|
NM_000742.4(CHRNA2):c.687C>T (p.Gly229=)
|
rs1050947622
|
0.00001
|
NM_000742.4(CHRNA2):c.69A>C (p.Pro23=)
|
rs1242888452
|
0.00001
|
NM_000742.4(CHRNA2):c.701T>C (p.Val234Ala)
|
rs768590131
|
0.00001
|
NM_000742.4(CHRNA2):c.717C>T (p.Thr239=)
|
rs1484589569
|
0.00001
|
NM_000742.4(CHRNA2):c.735C>T (p.Tyr245=)
|
rs775595773
|
0.00001
|
NM_000742.4(CHRNA2):c.74-17C>A
|
rs796052294
|
0.00001
|
NM_000742.4(CHRNA2):c.772G>A (p.Ala258Thr)
|
rs200372256
|
0.00001
|
NM_000742.4(CHRNA2):c.790C>T (p.Leu264=)
|
rs746292157
|
0.00001
|
NM_000742.4(CHRNA2):c.795G>A (p.Pro265=)
|
rs756903177
|
0.00001
|
NM_000742.4(CHRNA2):c.834C>T (p.Leu278=)
|
rs56189058
|
0.00001
|
NM_000742.4(CHRNA2):c.852G>A (p.Val284=)
|
rs1357751027
|
0.00001
|
NM_000742.4(CHRNA2):c.873C>T (p.Ser291=)
|
rs76140563
|
0.00001
|
NM_000742.4(CHRNA2):c.957G>A (p.Pro319=)
|
rs375239013
|
0.00001
|
NM_000742.4(CHRNA2):c.990G>A (p.Glu330=)
|
rs769608818
|
0.00001
|
NM_000744.7(CHRNA4):c.105C>T (p.His35=)
|
rs199541666
|
0.00001
|
NM_000744.7(CHRNA4):c.1062C>T (p.Arg354=)
|
rs764108665
|
0.00001
|
NM_000744.7(CHRNA4):c.1068C>T (p.Leu356=)
|
rs373335417
|
0.00001
|
NM_000744.7(CHRNA4):c.1145C>T (p.Pro382Leu)
|
rs769233762
|
0.00001
|
NM_000744.7(CHRNA4):c.1147C>T (p.Arg383Cys)
|
rs981343766
|
0.00001
|
NM_000744.7(CHRNA4):c.1159G>A (p.Glu387Lys)
|
rs534229205
|
0.00001
|
NM_000744.7(CHRNA4):c.1196A>G (p.Gln399Arg)
|
rs781131183
|
0.00001
|
NM_000744.7(CHRNA4):c.1212C>T (p.Pro404=)
|
rs764760832
|
0.00001
|
NM_000744.7(CHRNA4):c.1218G>A (p.Pro406=)
|
rs200528988
|
0.00001
|
NM_000744.7(CHRNA4):c.1232C>A (p.Pro411His)
|
rs779035642
|
0.00001
|
NM_000744.7(CHRNA4):c.1273C>T (p.Pro425Ser)
|
rs764808511
|
0.00001
|
NM_000744.7(CHRNA4):c.1283A>T (p.Gln428Leu)
|
rs560507450
|
0.00001
|
NM_000744.7(CHRNA4):c.1335G>A (p.Ser445=)
|
rs1470458445
|
0.00001
|
NM_000744.7(CHRNA4):c.1348C>T (p.Arg450Cys)
|
rs746921204
|
0.00001
|
NM_000744.7(CHRNA4):c.1404C>T (p.Val468=)
|
rs1245158731
|
0.00001
|
NM_000744.7(CHRNA4):c.1420C>T (p.Pro474Ser)
|
rs773450609
|
0.00001
|
NM_000744.7(CHRNA4):c.1426G>A (p.Glu476Lys)
|
rs201420419
|
0.00001
|
NM_000744.7(CHRNA4):c.1470G>A (p.Gln490=)
|
rs2068558681
|
0.00001
|
NM_000744.7(CHRNA4):c.1495G>A (p.Ala499Thr)
|
rs150336658
|
0.00001
|
NM_000744.7(CHRNA4):c.1501G>A (p.Glu501Lys)
|
rs146825815
|
0.00001
|
NM_000744.7(CHRNA4):c.150G>A (p.Lys50=)
|
rs985967668
|
0.00001
|
NM_000744.7(CHRNA4):c.1520C>T (p.Ala507Val)
|
rs747883053
|
0.00001
|
NM_000744.7(CHRNA4):c.1527C>T (p.Ala509=)
|
rs758693290
|
0.00001
|
NM_000744.7(CHRNA4):c.1576C>T (p.Pro526Ser)
|
rs1064795533
|
0.00001
|
NM_000744.7(CHRNA4):c.1585T>C (p.Cys529Arg)
|
rs112515579
|
0.00001
|
NM_000744.7(CHRNA4):c.15C>G (p.Gly5=)
|
rs1208135470
|
0.00001
|
NM_000744.7(CHRNA4):c.1626G>A (p.Pro542=)
|
rs764393796
|
0.00001
|
NM_000744.7(CHRNA4):c.1630G>A (p.Ala544Thr)
|
rs540705031
|
0.00001
|
NM_000744.7(CHRNA4):c.1634C>T (p.Thr545Met)
|
rs121912282
|
0.00001
|
NM_000744.7(CHRNA4):c.1646G>A (p.Arg549His)
|
rs768292011
|
0.00001
|
NM_000744.7(CHRNA4):c.1658C>T (p.Ala553Val)
|
rs762808071
|
0.00001
|
NM_000744.7(CHRNA4):c.1677C>T (p.Pro559=)
|
rs767662388
|
0.00001
|
NM_000744.7(CHRNA4):c.1683G>A (p.Ser561=)
|
rs750265666
|
0.00001
|
NM_000744.7(CHRNA4):c.1686G>T (p.Pro562=)
|
rs78050042
|
0.00001
|
NM_000744.7(CHRNA4):c.16C>T (p.Pro6Ser)
|
rs796052312
|
0.00001
|
NM_000744.7(CHRNA4):c.1701G>A (p.Ala567=)
|
rs1373364724
|
0.00001
|
NM_000744.7(CHRNA4):c.1721T>C (p.Ile574Thr)
|
rs139657121
|
0.00001
|
NM_000744.7(CHRNA4):c.1741G>A (p.Glu581Lys)
|
rs752289948
|
0.00001
|
NM_000744.7(CHRNA4):c.1759-15C>T
|
rs751163361
|
0.00001
|
NM_000744.7(CHRNA4):c.1765G>A (p.Glu589Lys)
|
rs749939383
|
0.00001
|
NM_000744.7(CHRNA4):c.17C>T (p.Pro6Leu)
|
rs1238575890
|
0.00001
|
NM_000744.7(CHRNA4):c.1842G>A (p.Thr614=)
|
rs727503871
|
0.00001
|
NM_000744.7(CHRNA4):c.1860G>A (p.Pro620=)
|
rs202203317
|
0.00001
|
NM_000744.7(CHRNA4):c.199G>A (p.Gly67Ser)
|
rs750325388
|
0.00001
|
NM_000744.7(CHRNA4):c.211G>A (p.Ala71Thr)
|
rs200527878
|
0.00001
|
NM_000744.7(CHRNA4):c.228+12C>T
|
rs1013043290
|
0.00001
|
NM_000744.7(CHRNA4):c.229-11C>T
|
rs200631855
|
0.00001
|
NM_000744.7(CHRNA4):c.311A>C (p.Asp104Ala)
|
rs202042826
|
0.00001
|
NM_000744.7(CHRNA4):c.372C>T (p.Val124=)
|
rs201386851
|
0.00001
|
NM_000744.7(CHRNA4):c.38C>G (p.Pro13Arg)
|
rs796052313
|
0.00001
|
NM_000744.7(CHRNA4):c.399C>T (p.Phe133=)
|
rs766218638
|
0.00001
|
NM_000744.7(CHRNA4):c.412C>T (p.Leu138=)
|
rs372063405
|
0.00001
|
NM_000744.7(CHRNA4):c.502T>C (p.Phe168Leu)
|
rs1488210391
|
0.00001
|
NM_000744.7(CHRNA4):c.558G>A (p.Lys186=)
|
rs572569890
|
0.00001
|
NM_000744.7(CHRNA4):c.567C>T (p.Ile189=)
|
rs758128052
|
0.00001
|
NM_000744.7(CHRNA4):c.570C>T (p.Asp190=)
|
rs554282916
|
0.00001
|
NM_000744.7(CHRNA4):c.606C>G (p.Asp202Glu)
|
rs1048677024
|
0.00001
|
NM_000744.7(CHRNA4):c.621C>T (p.Gly207=)
|
rs149407396
|
0.00001
|
NM_000744.7(CHRNA4):c.649A>G (p.Thr217Ala)
|
rs757045864
|
0.00001
|
NM_000744.7(CHRNA4):c.657C>T (p.Asn219=)
|
rs763863668
|
0.00001
|
NM_000744.7(CHRNA4):c.76+19G>A
|
rs1432252194
|
0.00001
|
NM_000744.7(CHRNA4):c.77-10C>T
|
rs200490160
|
0.00001
|
NM_000744.7(CHRNA4):c.783C>T (p.Thr261=)
|
rs199650427
|
0.00001
|
NM_000744.7(CHRNA4):c.784G>A (p.Val262Met)
|
rs150082508
|
0.00001
|
NM_000744.7(CHRNA4):c.787C>T (p.Leu263=)
|
rs76830527
|
0.00001
|
NM_000744.7(CHRNA4):c.840C>T (p.Ser280=)
|
rs776867107
|
0.00001
|
NM_000744.7(CHRNA4):c.841G>A (p.Val281Met)
|
rs764238999
|
0.00001
|
NM_000744.7(CHRNA4):c.865C>T (p.Leu289=)
|
rs201980705
|
0.00001
|
NM_000744.7(CHRNA4):c.868C>T (p.Leu290=)
|
rs762952445
|
0.00001
|
NM_000744.7(CHRNA4):c.880G>A (p.Glu294Lys)
|
rs201654194
|
0.00001
|
NM_000744.7(CHRNA4):c.88G>A (p.Val30Met)
|
rs746557446
|
0.00001
|
NM_000744.7(CHRNA4):c.900A>G (p.Ser300=)
|
rs878854143
|
0.00001
|
NM_000744.7(CHRNA4):c.915C>T (p.Leu305=)
|
rs121912258
|
0.00001
|
NM_000744.7(CHRNA4):c.921C>T (p.Gly307=)
|
rs543676432
|
0.00001
|
NM_000744.7(CHRNA4):c.972G>A (p.Thr324=)
|
rs561214079
|
0.00001
|
NM_000744.7(CHRNA4):c.987C>T (p.Asn329=)
|
rs572366184
|
0.00001
|
NM_000748.3(CHRNB2):c.1032C>T (p.Pro344=)
|
rs374720331
|
0.00001
|
NM_000748.3(CHRNB2):c.1041C>T (p.Leu347=)
|
rs372224633
|
0.00001
|
NM_000748.3(CHRNB2):c.1050G>A (p.Gln350=)
|
rs747589095
|
0.00001
|
NM_000748.3(CHRNB2):c.1068C>T (p.Cys356=)
|
rs762237464
|
0.00001
|
NM_000748.3(CHRNB2):c.1087C>T (p.Leu363=)
|
rs201040879
|
0.00001
|
NM_000748.3(CHRNB2):c.1110C>G (p.Arg370=)
|
rs763983504
|
0.00001
|
NM_000748.3(CHRNB2):c.1116C>T (p.Gly372=)
|
rs1402931071
|
0.00001
|
NM_000748.3(CHRNB2):c.1119T>C (p.Ala373=)
|
rs1358610972
|
0.00001
|
NM_000748.3(CHRNB2):c.1152C>T (p.Ala384=)
|
rs746495548
|
0.00001
|
NM_000748.3(CHRNB2):c.1167C>T (p.Cys389=)
|
rs1274247405
|
0.00001
|
NM_000748.3(CHRNB2):c.1239C>T (p.Pro413=)
|
rs372757638
|
0.00001
|
NM_000748.3(CHRNB2):c.1257G>T (p.Pro419=)
|
rs199743038
|
0.00001
|
NM_000748.3(CHRNB2):c.1281G>A (p.Ala427=)
|
rs1326707359
|
0.00001
|
NM_000748.3(CHRNB2):c.1287C>T (p.Asp429=)
|
rs1057524461
|
0.00001
|
NM_000748.3(CHRNB2):c.1308C>T (p.Asp436=)
|
rs1057524421
|
0.00001
|
NM_000748.3(CHRNB2):c.1329T>C (p.Asp443=)
|
rs1451511201
|
0.00001
|
NM_000748.3(CHRNB2):c.1339-7C>T
|
rs1350349505
|
0.00001
|
NM_000748.3(CHRNB2):c.1380C>T (p.Arg460=)
|
rs373985042
|
0.00001
|
NM_000748.3(CHRNB2):c.1381C>T (p.Leu461Phe)
|
rs1206411079
|
0.00001
|
NM_000748.3(CHRNB2):c.1425C>T (p.Ile475=)
|
rs773226966
|
0.00001
|
NM_000748.3(CHRNB2):c.1461C>T (p.Thr487=)
|
rs1696263685
|
0.00001
|
NM_000748.3(CHRNB2):c.1476C>T (p.Leu492=)
|
rs1167152631
|
0.00001
|
NM_000748.3(CHRNB2):c.1497C>T (p.Pro499=)
|
rs768798015
|
0.00001
|
NM_000748.3(CHRNB2):c.210+15C>T
|
rs1246189959
|
0.00001
|
NM_000748.3(CHRNB2):c.213T>G (p.His71Gln)
|
rs763194096
|
0.00001
|
NM_000748.3(CHRNB2):c.255+15T>G
|
rs374367624
|
0.00001
|
NM_000748.3(CHRNB2):c.270T>C (p.Tyr90=)
|
rs751365875
|
0.00001
|
NM_000748.3(CHRNB2):c.294G>A (p.Glu98=)
|
rs367899705
|
0.00001
|
NM_000748.3(CHRNB2):c.342C>T (p.Leu114=)
|
rs1250849813
|
0.00001
|
NM_000748.3(CHRNB2):c.366-13C>G
|
rs768920657
|
0.00001
|
NM_000748.3(CHRNB2):c.366-17T>C
|
rs747237652
|
0.00001
|
NM_000748.3(CHRNB2):c.405C>T (p.Ala135=)
|
rs777250519
|
0.00001
|
NM_000748.3(CHRNB2):c.429C>T (p.Ile143=)
|
rs369264665
|
0.00001
|
NM_000748.3(CHRNB2):c.459C>T (p.Ser153=)
|
rs538508561
|
0.00001
|
NM_000748.3(CHRNB2):c.615C>T (p.Ile205=)
|
rs202243284
|
0.00001
|
NM_000748.3(CHRNB2):c.627G>A (p.Pro209=)
|
rs752968150
|
0.00001
|
NM_000748.3(CHRNB2):c.639C>T (p.Asn213=)
|
rs772174020
|
0.00001
|
NM_000748.3(CHRNB2):c.648C>T (p.Pro216=)
|
rs370886747
|
0.00001
|
NM_000748.3(CHRNB2):c.651C>T (p.Asp217=)
|
rs1425961412
|
0.00001
|
NM_000748.3(CHRNB2):c.669C>T (p.Asp223=)
|
rs1557851605
|
0.00001
|
NM_000748.3(CHRNB2):c.729C>T (p.Ile243=)
|
rs1696165036
|
0.00001
|
NM_000748.3(CHRNB2):c.75T>C (p.Gly25=)
|
rs764498388
|
0.00001
|
NM_000748.3(CHRNB2):c.960C>T (p.Asn320=)
|
rs1434865319
|
0.00001
|
NM_000748.3(CHRNB2):c.966C>T (p.His322=)
|
rs1411254585
|
0.00001
|
NM_000748.3(CHRNB2):c.990C>T (p.Thr330=)
|
rs201825924
|
0.00001
|
NM_000748.3(CHRNB2):c.991A>G (p.Met331Val)
|
rs1207496178
|
0.00001
|
NM_001077350.3(NPRL3):c.1023C>T (p.Ser341=)
|
rs781712669
|
0.00001
|
NM_001077350.3(NPRL3):c.1031+10G>A
|
rs554242910
|
0.00001
|
NM_001077350.3(NPRL3):c.1128A>G (p.Glu376=)
|
rs779153012
|
0.00001
|
NM_001077350.3(NPRL3):c.1162-19C>T
|
rs973832371
|
0.00001
|
NM_001077350.3(NPRL3):c.1170C>T (p.Leu390=)
|
rs752646070
|
0.00001
|
NM_001077350.3(NPRL3):c.118+15G>C
|
rs1380711428
|
0.00001
|
NM_001077350.3(NPRL3):c.118+9G>A
|
rs766369663
|
0.00001
|
NM_001077350.3(NPRL3):c.119-4T>C
|
rs1432084309
|
0.00001
|
NM_001077350.3(NPRL3):c.119-9C>T
|
rs1291323858
|
0.00001
|
NM_001077350.3(NPRL3):c.1269G>A (p.Pro423=)
|
rs762331419
|
0.00001
|
NM_001077350.3(NPRL3):c.126G>A (p.Pro42=)
|
rs370587053
|
0.00001
|
NM_001077350.3(NPRL3):c.1351+20G>A
|
rs1474643956
|
0.00001
|
NM_001077350.3(NPRL3):c.1352-14C>G
|
rs772331175
|
0.00001
|
NM_001077350.3(NPRL3):c.1352-15C>T
|
rs1017477594
|
0.00001
|
NM_001077350.3(NPRL3):c.1352-9C>A
|
rs539074617
|
0.00001
|
NM_001077350.3(NPRL3):c.138C>T (p.Tyr46=)
|
rs1021001959
|
0.00001
|
NM_001077350.3(NPRL3):c.1428G>A (p.Ser476=)
|
rs370803087
|
0.00001
|
NM_001077350.3(NPRL3):c.147C>T (p.Ser49=)
|
rs1157537547
|
0.00001
|
NM_001077350.3(NPRL3):c.1500T>C (p.Ser500=)
|
rs1253562574
|
0.00001
|
NM_001077350.3(NPRL3):c.1506C>T (p.Pro502=)
|
rs776547593
|
0.00001
|
NM_001077350.3(NPRL3):c.1539T>C (p.Phe513=)
|
rs749698102
|
0.00001
|
NM_001077350.3(NPRL3):c.153G>A (p.Thr51=)
|
rs771331057
|
0.00001
|
NM_001077350.3(NPRL3):c.1544+12T>C
|
rs746389609
|
0.00001
|
NM_001077350.3(NPRL3):c.1544+19G>A
|
rs758718371
|
0.00001
|
NM_001077350.3(NPRL3):c.1563C>T (p.Arg521=)
|
rs1369887915
|
0.00001
|
NM_001077350.3(NPRL3):c.1596C>T (p.Asn532=)
|
rs763597112
|
0.00001
|
NM_001077350.3(NPRL3):c.1605G>A (p.Thr535=)
|
rs775180844
|
0.00001
|
NM_001077350.3(NPRL3):c.1623C>T (p.Leu541=)
|
rs1381874761
|
0.00001
|
NM_001077350.3(NPRL3):c.1647C>T (p.Ser549=)
|
rs1191944943
|
0.00001
|
NM_001077350.3(NPRL3):c.1677T>C (p.Pro559=)
|
rs1216277325
|
0.00001
|
NM_001077350.3(NPRL3):c.177C>T (p.Asp59=)
|
rs1048069050
|
0.00001
|
NM_001077350.3(NPRL3):c.198T>C (p.Asp66=)
|
rs1900183713
|
0.00001
|
NM_001077350.3(NPRL3):c.273G>A (p.Val91=)
|
rs1427607213
|
0.00001
|
NM_001077350.3(NPRL3):c.30G>C (p.Val10=)
|
rs772703167
|
0.00001
|
NM_001077350.3(NPRL3):c.319-4A>G
|
rs1033435405
|
0.00001
|
NM_001077350.3(NPRL3):c.342G>A (p.Pro114=)
|
rs368936546
|
0.00001
|
NM_001077350.3(NPRL3):c.411A>G (p.Ser137=)
|
rs752160458
|
0.00001
|
NM_001077350.3(NPRL3):c.52A>C (p.Arg18=)
|
rs1218964632
|
0.00001
|
NM_001077350.3(NPRL3):c.548-16G>A
|
rs369053251
|
0.00001
|
NM_001077350.3(NPRL3):c.548-6T>C
|
rs780258721
|
0.00001
|
NM_001077350.3(NPRL3):c.579C>T (p.His193=)
|
rs777493106
|
0.00001
|
NM_001077350.3(NPRL3):c.642G>A (p.Ser214=)
|
rs368182847
|
0.00001
|
NM_001077350.3(NPRL3):c.714G>A (p.Ala238=)
|
rs751260495
|
0.00001
|
NM_001077350.3(NPRL3):c.732C>T (p.Pro244=)
|
rs1196165192
|
0.00001
|
NM_001077350.3(NPRL3):c.756G>A (p.Leu252=)
|
rs554325689
|
0.00001
|
NM_001077350.3(NPRL3):c.861G>A (p.Lys287=)
|
rs767611082
|
0.00001
|
NM_001077350.3(NPRL3):c.906G>A (p.Ala302=)
|
rs771726316
|
0.00001
|
NM_001077350.3(NPRL3):c.946C>T (p.Leu316=)
|
rs1472693052
|
0.00001
|
NM_001077350.3(NPRL3):c.981G>A (p.Pro327=)
|
rs371414303
|
0.00001
|
NM_001077350.3(NPRL3):c.984G>A (p.Leu328=)
|
rs866882831
|
0.00001
|
NM_001099403.2(PRDM8):c.1035G>A (p.Lys345=)
|
rs1192208565
|
0.00001
|
NM_001099403.2(PRDM8):c.1077C>T (p.Gly359=)
|
rs746862284
|
0.00001
|
NM_001099403.2(PRDM8):c.1098G>A (p.Glu366=)
|
rs1222924303
|
0.00001
|
NM_001099403.2(PRDM8):c.1215C>T (p.Asp405=)
|
rs1560478454
|
0.00001
|
NM_001099403.2(PRDM8):c.1275C>T (p.Pro425=)
|
rs1738619872
|
0.00001
|
NM_001099403.2(PRDM8):c.1306C>T (p.Leu436=)
|
rs1321681007
|
0.00001
|
NM_001099403.2(PRDM8):c.1350G>A (p.Glu450=)
|
rs1578265647
|
0.00001
|
NM_001099403.2(PRDM8):c.1396C>T (p.Leu466=)
|
rs1738640851
|
0.00001
|
NM_001099403.2(PRDM8):c.1434G>C (p.Thr478=)
|
rs1199927860
|
0.00001
|
NM_001099403.2(PRDM8):c.1476C>T (p.Ala492=)
|
rs1279321008
|
0.00001
|
NM_001099403.2(PRDM8):c.1521T>C (p.Ser507=)
|
rs757071182
|
0.00001
|
NM_001099403.2(PRDM8):c.159C>T (p.Asp53=)
|
rs1262983903
|
0.00001
|
NM_001099403.2(PRDM8):c.1674T>C (p.Gly558=)
|
rs774459714
|
0.00001
|
NM_001099403.2(PRDM8):c.1764C>G (p.Ala588=)
|
rs748241828
|
0.00001
|
NM_001099403.2(PRDM8):c.1767T>A (p.Ala589=)
|
rs773515375
|
0.00001
|
NM_001099403.2(PRDM8):c.1809G>A (p.Leu603=)
|
rs780466301
|
0.00001
|
NM_001099403.2(PRDM8):c.1821G>A (p.Ser607=)
|
rs1361333573
|
0.00001
|
NM_001099403.2(PRDM8):c.1929T>C (p.His643=)
|
rs761518640
|
0.00001
|
NM_001099403.2(PRDM8):c.1956T>C (p.Tyr652=)
|
rs374015672
|
0.00001
|
NM_001099403.2(PRDM8):c.2043C>T (p.Leu681=)
|
rs758880510
|
0.00001
|
NM_001099403.2(PRDM8):c.222A>G (p.Val74=)
|
rs375203530
|
0.00001
|
NM_001099403.2(PRDM8):c.231A>G (p.Ser77=)
|
rs1045192626
|
0.00001
|
NM_001099403.2(PRDM8):c.369C>T (p.Asp123=)
|
rs754992126
|
0.00001
|
NM_001099403.2(PRDM8):c.618C>G (p.Gly206=)
|
rs370541374
|
0.00001
|
NM_001099403.2(PRDM8):c.660T>C (p.Pro220=)
|
rs747489896
|
0.00001
|
NM_001099403.2(PRDM8):c.675C>G (p.Pro225=)
|
rs749054601
|
0.00001
|
NM_001099403.2(PRDM8):c.951G>C (p.Pro317=)
|
rs1326656501
|
0.00001
|
NM_001099403.2(PRDM8):c.978C>A (p.Gly326=)
|
rs1484326591
|
0.00001
|
NM_001112741.2(KCNC1):c.1029C>T (p.Asn343=)
|
rs755107336
|
0.00001
|
NM_001112741.2(KCNC1):c.1131C>T (p.Ser377=)
|
rs1481676892
|
0.00001
|
NM_001112741.2(KCNC1):c.1167C>T (p.Ile389=)
|
rs752732931
|
0.00001
|
NM_001112741.2(KCNC1):c.1197G>A (p.Thr399=)
|
rs574378895
|
0.00001
|
NM_001112741.2(KCNC1):c.1305C>T (p.Ile435=)
|
rs908674741
|
0.00001
|
NM_001112741.2(KCNC1):c.1317C>T (p.Phe439=)
|
rs776064757
|
0.00001
|
NM_001112741.2(KCNC1):c.1504+12C>G
|
rs1176314990
|
0.00001
|
NM_001112741.2(KCNC1):c.1518T>C (p.Asn506=)
|
rs747283873
|
0.00001
|
NM_001112741.2(KCNC1):c.1536C>T (p.Ala512=)
|
rs748302217
|
0.00001
|
NM_001112741.2(KCNC1):c.1540C>T (p.Leu514=)
|
rs1259127639
|
0.00001
|
NM_001112741.2(KCNC1):c.1545G>A (p.Ala515=)
|
rs763202742
|
0.00001
|
NM_001112741.2(KCNC1):c.1548C>T (p.Asn516=)
|
rs1338589874
|
0.00001
|
NM_001112741.2(KCNC1):c.202C>T (p.Leu68=)
|
rs751042459
|
0.00001
|
NM_001112741.2(KCNC1):c.324G>A (p.Thr108=)
|
rs1009771675
|
0.00001
|
NM_001112741.2(KCNC1):c.327C>T (p.Tyr109=)
|
rs1590088932
|
0.00001
|
NM_001112741.2(KCNC1):c.492G>A (p.Arg164=)
|
rs200097310
|
0.00001
|
NM_001112741.2(KCNC1):c.582C>T (p.Phe194=)
|
rs752386683
|
0.00001
|
NM_001112741.2(KCNC1):c.654C>T (p.Ile218=)
|
rs747207268
|
0.00001
|
NM_001112741.2(KCNC1):c.666G>A (p.Thr222=)
|
rs769612184
|
0.00001
|
NM_001112741.2(KCNC1):c.678C>T (p.Asn226=)
|
rs1423338721
|
0.00001
|
NM_001112741.2(KCNC1):c.693G>A (p.Thr231=)
|
rs752437957
|
0.00001
|
NM_001112741.2(KCNC1):c.723G>A (p.Thr241=)
|
rs780073632
|
0.00001
|
NM_001112741.2(KCNC1):c.774C>T (p.Phe258=)
|
rs759363166
|
0.00001
|
NM_001112741.2(KCNC1):c.870C>T (p.Tyr290=)
|
rs758930689
|
0.00001
|
NM_001112741.2(KCNC1):c.888C>T (p.Ser296=)
|
rs529332669
|
0.00001
|
NM_001112741.2(KCNC1):c.900C>T (p.Ser300=)
|
rs1050595870
|
0.00001
|
NM_001112741.2(KCNC1):c.972G>A (p.Leu324=)
|
rs761337620
|
0.00001
|
NM_001122752.2(SERPINI1):c.1008A>G (p.Ala336=)
|
rs1330766416
|
0.00001
|
NM_001122752.2(SERPINI1):c.147T>C (p.Ser49=)
|
rs1450628576
|
0.00001
|
NM_001122752.2(SERPINI1):c.198A>G (p.Gly66=)
|
rs1288169432
|
0.00001
|
NM_001122752.2(SERPINI1):c.251-18T>C
|
rs565445764
|
0.00001
|
NM_001122752.2(SERPINI1):c.306C>T (p.Ser102=)
|
rs1727464431
|
0.00001
|
NM_001122752.2(SERPINI1):c.342G>A (p.Val114=)
|
rs373426986
|
0.00001
|
NM_001122752.2(SERPINI1):c.438C>T (p.Ala146=)
|
rs769806907
|
0.00001
|
NM_001122752.2(SERPINI1):c.473A>G (p.Asn158Ser)
|
rs767144751
|
0.00001
|
NM_001122752.2(SERPINI1):c.48T>A (p.Ala16=)
|
rs138644986
|
0.00001
|
NM_001122752.2(SERPINI1):c.582T>C (p.Phe194=)
|
rs370446701
|
0.00001
|
NM_001122752.2(SERPINI1):c.677-20G>A
|
rs372974126
|
0.00001
|
NM_001122752.2(SERPINI1):c.684T>C (p.Phe228=)
|
rs557897218
|
0.00001
|
NM_001122752.2(SERPINI1):c.717C>T (p.Tyr239=)
|
rs775700678
|
0.00001
|
NM_001122752.2(SERPINI1):c.738T>C (p.Tyr246=)
|
rs758312709
|
0.00001
|
NM_001122752.2(SERPINI1):c.747T>C (p.Asp249=)
|
rs751092222
|
0.00001
|
NM_001122752.2(SERPINI1):c.817G>A (p.Ala273Thr)
|
rs778331359
|
0.00001
|
NM_001122752.2(SERPINI1):c.881+13T>G
|
rs372395802
|
0.00001
|
NM_001122752.2(SERPINI1):c.90A>C (p.Ser30=)
|
rs1423056952
|
0.00001
|
NM_001134407.3(GRIN2A):c.1008-10C>T
|
rs1187421936
|
0.00001
|
NM_001134407.3(GRIN2A):c.1008A>G (p.Pro336=)
|
rs754037282
|
0.00001
|
NM_001134407.3(GRIN2A):c.1020T>A (p.Asn340Lys)
|
rs756673830
|
0.00001
|
NM_001134407.3(GRIN2A):c.1030G>C (p.Asp344His)
|
rs777505684
|
0.00001
|
NM_001134407.3(GRIN2A):c.1069G>A (p.Val357Met)
|
rs78929970
|
0.00001
|
NM_001134407.3(GRIN2A):c.1176G>A (p.Arg392=)
|
rs1596494999
|
0.00001
|
NM_001134407.3(GRIN2A):c.1191C>T (p.Ser397=)
|
rs1231295919
|
0.00001
|
NM_001134407.3(GRIN2A):c.1203G>A (p.Pro401=)
|
rs369027920
|
0.00001
|
NM_001134407.3(GRIN2A):c.1233G>T (p.Leu411=)
|
rs768782812
|
0.00001
|
NM_001134407.3(GRIN2A):c.1265T>C (p.Ile422Thr)
|
rs372628324
|
0.00001
|
NM_001134407.3(GRIN2A):c.1284G>A (p.Thr428=)
|
rs147211564
|
0.00001
|
NM_001134407.3(GRIN2A):c.1329-11T>C
|
rs1400943927
|
0.00001
|
NM_001134407.3(GRIN2A):c.1340A>T (p.Asn447Ile)
|
rs367543145
|
0.00001
|
NM_001134407.3(GRIN2A):c.1343A>G (p.Glu448Gly)
|
rs1273711716
|
0.00001
|
NM_001134407.3(GRIN2A):c.1392G>A (p.Leu464=)
|
rs1245036969
|
0.00001
|
NM_001134407.3(GRIN2A):c.1425C>T (p.Tyr475=)
|
rs774228933
|
0.00001
|
NM_001134407.3(GRIN2A):c.1437G>A (p.Leu479=)
|
rs768988228
|
0.00001
|
NM_001134407.3(GRIN2A):c.1455T>C (p.His485=)
|
rs183123732
|
0.00001
|
NM_001134407.3(GRIN2A):c.145C>A (p.Arg49Ser)
|
rs1413736970
|
0.00001
|
NM_001134407.3(GRIN2A):c.1494T>C (p.Gly498=)
|
rs777998695
|
0.00001
|
NM_001134407.3(GRIN2A):c.1497+20C>T
|
rs1356254277
|
0.00001
|
NM_001134407.3(GRIN2A):c.1498-9T>C
|
rs1272098613
|
0.00001
|
NM_001134407.3(GRIN2A):c.1593G>A (p.Thr531=)
|
rs957436270
|
0.00001
|
NM_001134407.3(GRIN2A):c.1651+18T>C
|
rs367980421
|
0.00001
|
NM_001134407.3(GRIN2A):c.1652-20C>T
|
rs1358690928
|
0.00001
|
NM_001134407.3(GRIN2A):c.167G>T (p.Gly56Val)
|
rs769971551
|
0.00001
|
NM_001134407.3(GRIN2A):c.1695G>C (p.Leu565=)
|
rs1485070079
|
0.00001
|
NM_001134407.3(GRIN2A):c.1698C>T (p.Leu566=)
|
rs367543142
|
0.00001
|
NM_001134407.3(GRIN2A):c.171C>T (p.Pro57=)
|
rs781693549
|
0.00001
|
NM_001134407.3(GRIN2A):c.1740C>T (p.Ser580=)
|
rs1296834781
|
0.00001
|
NM_001134407.3(GRIN2A):c.174G>T (p.Glu58Asp)
|
rs1432050454
|
0.00001
|
NM_001134407.3(GRIN2A):c.1812T>A (p.Ala604=)
|
rs760972725
|
0.00001
|
NM_001134407.3(GRIN2A):c.1833G>A (p.Leu611=)
|
rs745506751
|
0.00001
|
NM_001134407.3(GRIN2A):c.1848C>T (p.Ser616=)
|
rs372324916
|
0.00001
|
NM_001134407.3(GRIN2A):c.1932C>T (p.Ser644=)
|
rs1596471786
|
0.00001
|
NM_001134407.3(GRIN2A):c.1986G>A (p.Val662=)
|
rs1435276408
|
0.00001
|
NM_001134407.3(GRIN2A):c.1989C>T (p.Thr663=)
|
rs756105228
|
0.00001
|
NM_001134407.3(GRIN2A):c.2008-10C>A
|
rs1250803305
|
0.00001
|
NM_001134407.3(GRIN2A):c.2008-20C>A
|
rs768456499
|
0.00001
|
NM_001134407.3(GRIN2A):c.2022T>G (p.His674Gln)
|
rs910115733
|
0.00001
|
NM_001134407.3(GRIN2A):c.2145C>T (p.Asp715=)
|
rs141471530
|
0.00001
|
NM_001134407.3(GRIN2A):c.2238G>A (p.Lys746=)
|
rs1473479428
|
0.00001
|
NM_001134407.3(GRIN2A):c.2247C>T (p.Thr749=)
|
rs202026070
|
0.00001
|
NM_001134407.3(GRIN2A):c.2271C>T (p.Ala757=)
|
rs372459203
|
0.00001
|
NM_001134407.3(GRIN2A):c.2283T>C (p.Tyr761=)
|
rs759271923
|
0.00001
|
NM_001134407.3(GRIN2A):c.2356+11G>A
|
rs772691866
|
0.00001
|
NM_001134407.3(GRIN2A):c.2356+9C>T
|
rs376853235
|
0.00001
|
NM_001134407.3(GRIN2A):c.2454G>A (p.Ala818=)
|
rs762596013
|
0.00001
|
NM_001134407.3(GRIN2A):c.2472G>C (p.Leu824=)
|
rs1458581648
|
0.00001
|
NM_001134407.3(GRIN2A):c.2505C>T (p.Phe835=)
|
rs771342023
|
0.00001
|
NM_001134407.3(GRIN2A):c.2563G>A (p.Asp855Asn)
|
rs796052564
|
0.00001
|
NM_001134407.3(GRIN2A):c.2566C>G (p.Arg856Gly)
|
rs201072838
|
0.00001
|
NM_001134407.3(GRIN2A):c.258G>A (p.Val86=)
|
rs774606054
|
0.00001
|
NM_001134407.3(GRIN2A):c.2595+16G>A
|
rs779583842
|
0.00001
|
NM_001134407.3(GRIN2A):c.2601C>G (p.Ile867Met)
|
rs768337205
|
0.00001
|
NM_001134407.3(GRIN2A):c.2626A>G (p.Ile876Val)
|
rs1399604502
|
0.00001
|
NM_001134407.3(GRIN2A):c.2640G>A (p.Lys880=)
|
rs778938265
|
0.00001
|
NM_001134407.3(GRIN2A):c.2681T>A (p.Met894Lys)
|
rs775144380
|
0.00001
|
NM_001134407.3(GRIN2A):c.2752C>T (p.Pro918Ser)
|
rs778940856
|
0.00001
|
NM_001134407.3(GRIN2A):c.2780G>C (p.Arg927Thr)
|
rs752992319
|
0.00001
|
NM_001134407.3(GRIN2A):c.2794A>G (p.Met932Val)
|
rs758671206
|
0.00001
|
NM_001134407.3(GRIN2A):c.2795T>C (p.Met932Thr)
|
rs1050421930
|
0.00001
|
NM_001134407.3(GRIN2A):c.2805T>G (p.Val935=)
|
rs762984731
|
0.00001
|
NM_001134407.3(GRIN2A):c.2809G>A (p.Asp937Asn)
|
rs769602505
|
0.00001
|
NM_001134407.3(GRIN2A):c.285C>T (p.Ile95=)
|
rs756116240
|
0.00001
|
NM_001134407.3(GRIN2A):c.2927A>G (p.Asn976Ser)
|
rs886039239
|
0.00001
|
NM_001134407.3(GRIN2A):c.3017C>T (p.Ala1006Val)
|
rs200526162
|
0.00001
|
NM_001134407.3(GRIN2A):c.3018G>A (p.Ala1006=)
|
rs761132463
|
0.00001
|
NM_001134407.3(GRIN2A):c.3031C>T (p.Arg1011Trp)
|
rs760522909
|
0.00001
|
NM_001134407.3(GRIN2A):c.3032G>A (p.Arg1011Gln)
|
rs1163766811
|
0.00001
|
NM_001134407.3(GRIN2A):c.3052G>A (p.Val1018Met)
|
rs775756583
|
0.00001
|
NM_001134407.3(GRIN2A):c.3064C>T (p.Arg1022Cys)
|
rs560057284
|
0.00001
|
NM_001134407.3(GRIN2A):c.3144C>A (p.Ser1048Arg)
|
rs1900774977
|
0.00001
|
NM_001134407.3(GRIN2A):c.31G>C (p.Val11Leu)
|
rs769657047
|
0.00001
|
NM_001134407.3(GRIN2A):c.3255C>T (p.Asn1085=)
|
rs938766924
|
0.00001
|
NM_001134407.3(GRIN2A):c.3266C>T (p.Ser1089Leu)
|
rs1064796981
|
0.00001
|
NM_001134407.3(GRIN2A):c.3293G>A (p.Cys1098Tyr)
|
rs746257794
|
0.00001
|
NM_001134407.3(GRIN2A):c.3309C>T (p.Arg1103=)
|
rs777266308
|
0.00001
|
NM_001134407.3(GRIN2A):c.3311C>T (p.Thr1104Ile)
|
rs755577016
|
0.00001
|
NM_001134407.3(GRIN2A):c.333G>A (p.Gln111=)
|
rs1286229927
|
0.00001
|
NM_001134407.3(GRIN2A):c.3348G>A (p.Lys1116=)
|
rs766142005
|
0.00001
|
NM_001134407.3(GRIN2A):c.3351C>G (p.Ile1117Met)
|
rs1462511588
|
0.00001
|
NM_001134407.3(GRIN2A):c.3393T>G (p.Asp1131Glu)
|
rs1900748818
|
0.00001
|
NM_001134407.3(GRIN2A):c.3400C>A (p.Gln1134Lys)
|
rs748967552
|
0.00001
|
NM_001134407.3(GRIN2A):c.3417G>T (p.Val1139=)
|
rs1236610369
|
0.00001
|
NM_001134407.3(GRIN2A):c.3441C>T (p.Phe1147=)
|
rs1455176676
|
0.00001
|
NM_001134407.3(GRIN2A):c.3518A>G (p.His1173Arg)
|
rs199975988
|
0.00001
|
NM_001134407.3(GRIN2A):c.3530G>A (p.Gly1177Glu)
|
rs745723771
|
0.00001
|
NM_001134407.3(GRIN2A):c.3623G>A (p.Arg1208Gln)
|
rs780055204
|
0.00001
|
NM_001134407.3(GRIN2A):c.3627G>A (p.Gln1209=)
|
rs1191216428
|
0.00001
|
NM_001134407.3(GRIN2A):c.3636G>A (p.Thr1212=)
|
rs765614514
|
0.00001
|
NM_001134407.3(GRIN2A):c.3708C>T (p.Cys1236=)
|
rs780909404
|
0.00001
|
NM_001134407.3(GRIN2A):c.3738T>C (p.Tyr1246=)
|
rs757701588
|
0.00001
|
NM_001134407.3(GRIN2A):c.3809A>T (p.Asp1270Val)
|
rs750649530
|
0.00001
|
NM_001134407.3(GRIN2A):c.3875A>G (p.Tyr1292Cys)
|
rs796052569
|
0.00001
|
NM_001134407.3(GRIN2A):c.38C>T (p.Pro13Leu)
|
rs367543131
|
0.00001
|
NM_001134407.3(GRIN2A):c.4015A>G (p.Lys1339Glu)
|
rs754686222
|
0.00001
|
NM_001134407.3(GRIN2A):c.4017A>G (p.Lys1339=)
|
rs751221611
|
0.00001
|
NM_001134407.3(GRIN2A):c.4019A>G (p.Lys1340Arg)
|
rs1411064283
|
0.00001
|
NM_001134407.3(GRIN2A):c.402C>T (p.Ile134=)
|
rs587780352
|
0.00001
|
NM_001134407.3(GRIN2A):c.4038A>G (p.Gln1346=)
|
rs765156643
|
0.00001
|
NM_001134407.3(GRIN2A):c.4109C>G (p.Ser1370Cys)
|
rs762981158
|
0.00001
|
NM_001134407.3(GRIN2A):c.415-15T>G
|
rs1057522859
|
0.00001
|
NM_001134407.3(GRIN2A):c.4151C>T (p.Ser1384Leu)
|
rs866228360
|
0.00001
|
NM_001134407.3(GRIN2A):c.4176A>G (p.Pro1392=)
|
rs886043681
|
0.00001
|
NM_001134407.3(GRIN2A):c.4209G>A (p.Ser1403=)
|
rs558095250
|
0.00001
|
NM_001134407.3(GRIN2A):c.4224G>A (p.Thr1408=)
|
rs773175225
|
0.00001
|
NM_001134407.3(GRIN2A):c.4230G>A (p.Ser1410=)
|
rs762437402
|
0.00001
|
NM_001134407.3(GRIN2A):c.4245C>A (p.Asp1415Glu)
|
rs777328885
|
0.00001
|
NM_001134407.3(GRIN2A):c.426T>G (p.Ser142=)
|
rs367543125
|
0.00001
|
NM_001134407.3(GRIN2A):c.4275G>A (p.Ser1425=)
|
rs778315936
|
0.00001
|
NM_001134407.3(GRIN2A):c.4290T>G (p.Pro1430=)
|
rs756705691
|
0.00001
|
NM_001134407.3(GRIN2A):c.4350T>C (p.Asn1450=)
|
rs761187900
|
0.00001
|
NM_001134407.3(GRIN2A):c.4354C>T (p.Arg1452Cys)
|
rs568622613
|
0.00001
|
NM_001134407.3(GRIN2A):c.4378A>G (p.Ile1460Val)
|
rs146055721
|
0.00001
|
NM_001134407.3(GRIN2A):c.467C>T (p.Thr156Met)
|
rs763500409
|
0.00001
|
NM_001134407.3(GRIN2A):c.498C>G (p.Asp166Glu)
|
rs1433795312
|
0.00001
|
NM_001134407.3(GRIN2A):c.510C>T (p.Phe170=)
|
rs113636131
|
0.00001
|
NM_001134407.3(GRIN2A):c.540C>T (p.Tyr180=)
|
rs745815376
|
0.00001
|
NM_001134407.3(GRIN2A):c.570A>T (p.Thr190=)
|
rs2044768067
|
0.00001
|
NM_001134407.3(GRIN2A):c.583T>C (p.Phe195Leu)
|
rs1445598953
|
0.00001
|
NM_001134407.3(GRIN2A):c.60T>C (p.Gly20=)
|
rs367543130
|
0.00001
|
NM_001134407.3(GRIN2A):c.687C>T (p.Leu229=)
|
rs372649219
|
0.00001
|
NM_001134407.3(GRIN2A):c.702C>T (p.Asp234=)
|
rs150208429
|
0.00001
|
NM_001134407.3(GRIN2A):c.712C>G (p.Leu238Val)
|
rs899780729
|
0.00001
|
NM_001134407.3(GRIN2A):c.77C>T (p.Ala26Val)
|
rs765986049
|
0.00001
|
NM_001134407.3(GRIN2A):c.843C>T (p.Tyr281=)
|
rs554338361
|
0.00001
|
NM_001134407.3(GRIN2A):c.904G>A (p.Ala302Thr)
|
rs901717931
|
0.00001
|
NM_001134407.3(GRIN2A):c.915T>C (p.Ser305=)
|
rs1052146446
|
0.00001
|
NM_001134407.3(GRIN2A):c.943G>A (p.Glu315Lys)
|
rs765104792
|
0.00001
|
NM_001134407.3(GRIN2A):c.964G>A (p.Gly322Arg)
|
rs374637415
|
0.00001
|
NM_001134407.3(GRIN2A):c.979C>G (p.Pro327Ala)
|
rs771168389
|
0.00001
|
NM_001134407.3(GRIN2A):c.985G>A (p.Val329Ile)
|
rs146610239
|
0.00001
|
NM_001134407.3(GRIN2A):c.990G>A (p.Pro330=)
|
rs149902963
|
0.00001
|
NM_001161352.2(KCNMA1):c.1014C>T (p.Thr338=)
|
rs746250658
|
0.00001
|
NM_001161352.2(KCNMA1):c.1132-10A>G
|
rs771169491
|
0.00001
|
NM_001161352.2(KCNMA1):c.1132-20T>C
|
rs200570099
|
0.00001
|
NM_001161352.2(KCNMA1):c.1132-5C>A
|
rs1157563615
|
0.00001
|
NM_001161352.2(KCNMA1):c.1206T>C (p.Ser402=)
|
rs748229567
|
0.00001
|
NM_001161352.2(KCNMA1):c.1209G>A (p.Ala403=)
|
rs199572145
|
0.00001
|
NM_001161352.2(KCNMA1):c.1224-6G>A
|
rs370838557
|
0.00001
|
NM_001161352.2(KCNMA1):c.1224-9C>T
|
rs749164088
|
0.00001
|
NM_001161352.2(KCNMA1):c.12T>C (p.Gly4=)
|
rs949160991
|
0.00001
|
NM_001161352.2(KCNMA1):c.1305C>T (p.Asp435=)
|
rs201999021
|
0.00001
|
NM_001161352.2(KCNMA1):c.1332C>T (p.His444=)
|
rs202124080
|
0.00001
|
NM_001161352.2(KCNMA1):c.1334+11C>T
|
rs201807674
|
0.00001
|
NM_001161352.2(KCNMA1):c.1334+20G>T
|
rs2096785218
|
0.00001
|
NM_001161352.2(KCNMA1):c.1335-11T>C
|
rs201660936
|
0.00001
|
NM_001161352.2(KCNMA1):c.1413C>A (p.Leu471=)
|
rs903717178
|
0.00001
|
NM_001161352.2(KCNMA1):c.1523+9T>G
|
rs539064392
|
0.00001
|
NM_001161352.2(KCNMA1):c.15C>T (p.Gly5=)
|
rs1273640267
|
0.00001
|
NM_001161352.2(KCNMA1):c.1749+12T>A
|
rs1426310372
|
0.00001
|
NM_001161352.2(KCNMA1):c.1749+16A>G
|
rs1172012103
|
0.00001
|
NM_001161352.2(KCNMA1):c.1764A>G (p.Thr588=)
|
rs145660886
|
0.00001
|
NM_001161352.2(KCNMA1):c.1827C>A (p.Ala609=)
|
rs1391592797
|
0.00001
|
NM_001161352.2(KCNMA1):c.1860-4G>T
|
rs763267420
|
0.00001
|
NM_001161352.2(KCNMA1):c.1885C>T (p.Leu629=)
|
rs369724043
|
0.00001
|
NM_001161352.2(KCNMA1):c.18C>T (p.Gly6=)
|
rs769978136
|
0.00001
|
NM_001161352.2(KCNMA1):c.1929-18T>C
|
rs772923904
|
0.00001
|
NM_001161352.2(KCNMA1):c.1950C>T (p.Asn650=)
|
rs1241233284
|
0.00001
|
NM_001161352.2(KCNMA1):c.2092+9T>C
|
rs759090342
|
0.00001
|
NM_001161352.2(KCNMA1):c.2280G>A (p.Gln760=)
|
rs544095112
|
0.00001
|
NM_001161352.2(KCNMA1):c.2313G>A (p.Arg771=)
|
rs566306042
|
0.00001
|
NM_001161352.2(KCNMA1):c.2353C>T (p.Leu785=)
|
rs140324782
|
0.00001
|
NM_001161352.2(KCNMA1):c.2361-19C>G
|
rs868429807
|
0.00001
|
NM_001161352.2(KCNMA1):c.2436T>C (p.Thr812=)
|
rs779629574
|
0.00001
|
NM_001161352.2(KCNMA1):c.2484+9G>C
|
rs767569709
|
0.00001
|
NM_001161352.2(KCNMA1):c.2511C>T (p.Val837=)
|
rs200166976
|
0.00001
|
NM_001161352.2(KCNMA1):c.2577C>T (p.Asn859=)
|
rs770702438
|
0.00001
|
NM_001161352.2(KCNMA1):c.2595T>C (p.Arg865=)
|
rs770461329
|
0.00001
|
NM_001161352.2(KCNMA1):c.2619G>A (p.Glu873=)
|
rs200633881
|
0.00001
|
NM_001161352.2(KCNMA1):c.2676G>A (p.Thr892=)
|
rs143184179
|
0.00001
|
NM_001161352.2(KCNMA1):c.270C>T (p.Phe90=)
|
rs138473123
|
0.00001
|
NM_001161352.2(KCNMA1):c.2710-16T>C
|
rs779059391
|
0.00001
|
NM_001161352.2(KCNMA1):c.2769C>T (p.Cys923=)
|
rs200241954
|
0.00001
|
NM_001161352.2(KCNMA1):c.2778G>A (p.Leu926=)
|
rs2063503077
|
0.00001
|
NM_001161352.2(KCNMA1):c.2847C>T (p.Asn949=)
|
rs745890036
|
0.00001
|
NM_001161352.2(KCNMA1):c.288G>T (p.Val96=)
|
rs1256365697
|
0.00001
|
NM_001161352.2(KCNMA1):c.2902+8C>T
|
rs969238084
|
0.00001
|
NM_001161352.2(KCNMA1):c.3129G>A (p.Leu1043=)
|
rs751861895
|
0.00001
|
NM_001161352.2(KCNMA1):c.3147+10C>T
|
rs777007748
|
0.00001
|
NM_001161352.2(KCNMA1):c.3147+14T>C
|
rs764346358
|
0.00001
|
NM_001161352.2(KCNMA1):c.3148-6C>T
|
rs201087232
|
0.00001
|
NM_001161352.2(KCNMA1):c.3207G>A (p.Thr1069=)
|
rs1298795044
|
0.00001
|
NM_001161352.2(KCNMA1):c.3210G>A (p.Pro1070=)
|
rs752923387
|
0.00001
|
NM_001161352.2(KCNMA1):c.3258C>T (p.Tyr1086=)
|
rs1322664718
|
0.00001
|
NM_001161352.2(KCNMA1):c.3297C>T (p.Arg1099=)
|
rs372103668
|
0.00001
|
NM_001161352.2(KCNMA1):c.3324G>A (p.Gly1108=)
|
rs754021758
|
0.00001
|
NM_001161352.2(KCNMA1):c.3333G>A (p.Ala1111=)
|
rs200045097
|
0.00001
|
NM_001161352.2(KCNMA1):c.3342+10C>T
|
rs752873857
|
0.00001
|
NM_001161352.2(KCNMA1):c.3363T>C (p.Asp1121=)
|
rs1366149002
|
0.00001
|
NM_001161352.2(KCNMA1):c.3426T>C (p.Asp1142=)
|
rs755202928
|
0.00001
|
NM_001161352.2(KCNMA1):c.3444C>T (p.Pro1148=)
|
rs147778573
|
0.00001
|
NM_001161352.2(KCNMA1):c.348C>G (p.Thr116=)
|
rs200178895
|
0.00001
|
NM_001161352.2(KCNMA1):c.3504G>A (p.Pro1168=)
|
rs200945011
|
0.00001
|
NM_001161352.2(KCNMA1):c.3588G>A (p.Ser1196=)
|
rs75138661
|
0.00001
|
NM_001161352.2(KCNMA1):c.3654G>A (p.Arg1218=)
|
rs1445232499
|
0.00001
|
NM_001161352.2(KCNMA1):c.366G>A (p.Gly122=)
|
rs1263159961
|
0.00001
|
NM_001161352.2(KCNMA1):c.3681A>G (p.Lys1227=)
|
rs150023686
|
0.00001
|
NM_001161352.2(KCNMA1):c.375G>A (p.Thr125=)
|
rs1349036007
|
0.00001
|
NM_001161352.2(KCNMA1):c.39C>T (p.Gly13=)
|
rs1568036429
|
0.00001
|
NM_001161352.2(KCNMA1):c.405A>G (p.Ser135=)
|
rs759140697
|
0.00001
|
NM_001161352.2(KCNMA1):c.459C>T (p.Ala153=)
|
rs779927857
|
0.00001
|
NM_001161352.2(KCNMA1):c.462C>T (p.Ala154=)
|
rs200015007
|
0.00001
|
NM_001161352.2(KCNMA1):c.513C>T (p.Ser171=)
|
rs200815735
|
0.00001
|
NM_001161352.2(KCNMA1):c.567C>T (p.Ile189=)
|
rs146483703
|
0.00001
|
NM_001161352.2(KCNMA1):c.602+12A>G
|
rs199818612
|
0.00001
|
NM_001161352.2(KCNMA1):c.603-15C>T
|
rs775868905
|
0.00001
|
NM_001161352.2(KCNMA1):c.642A>G (p.Thr214=)
|
rs749560545
|
0.00001
|
NM_001161352.2(KCNMA1):c.651C>T (p.Ile217=)
|
rs200356374
|
0.00001
|
NM_001161352.2(KCNMA1):c.666C>T (p.Asn222=)
|
rs746791489
|
0.00001
|
NM_001161352.2(KCNMA1):c.694C>A (p.Arg232=)
|
rs1270998019
|
0.00001
|
NM_001161352.2(KCNMA1):c.696+15C>T
|
rs1218411521
|
0.00001
|
NM_001161352.2(KCNMA1):c.70A>C (p.Arg24=)
|
rs1350886458
|
0.00001
|
NM_001161352.2(KCNMA1):c.717A>G (p.Lys239=)
|
rs769909435
|
0.00001
|
NM_001161352.2(KCNMA1):c.72A>G (p.Arg24=)
|
rs1485176204
|
0.00001
|
NM_001161352.2(KCNMA1):c.732G>A (p.Leu244=)
|
rs200178732
|
0.00001
|
NM_001161352.2(KCNMA1):c.808+8A>G
|
rs1467269864
|
0.00001
|
NM_001161352.2(KCNMA1):c.809-11C>A
|
rs1168248125
|
0.00001
|
NM_001161352.2(KCNMA1):c.861G>A (p.Gln287=)
|
rs770925732
|
0.00001
|
NM_001161352.2(KCNMA1):c.884+14C>T
|
rs201121820
|
0.00001
|
NM_001161352.2(KCNMA1):c.884+18A>G
|
rs924962336
|
0.00001
|
NM_001161352.2(KCNMA1):c.930G>A (p.Thr310=)
|
rs1486636115
|
0.00001
|
NM_001242896.3(DEPDC5):c.1011G>A (p.Thr337=)
|
rs1396374516
|
0.00001
|
NM_001242896.3(DEPDC5):c.1081+9C>T
|
rs201014932
|
0.00001
|
NM_001242896.3(DEPDC5):c.1119G>A (p.Pro373=)
|
rs779115990
|
0.00001
|
NM_001242896.3(DEPDC5):c.1230C>G (p.Ser410=)
|
rs771613005
|
0.00001
|
NM_001242896.3(DEPDC5):c.1359T>A (p.Leu453=)
|
rs748674047
|
0.00001
|
NM_001242896.3(DEPDC5):c.138T>A (p.Asp46Glu)
|
rs535630975
|
0.00001
|
NM_001242896.3(DEPDC5):c.1410C>T (p.Pro470=)
|
rs751143978
|
0.00001
|
NM_001242896.3(DEPDC5):c.1458G>A (p.Glu486=)
|
rs1458605715
|
0.00001
|
NM_001242896.3(DEPDC5):c.1566C>T (p.Asp522=)
|
rs200893602
|
0.00001
|
NM_001242896.3(DEPDC5):c.1626G>A (p.Gln542=)
|
rs781693793
|
0.00001
|
NM_001242896.3(DEPDC5):c.1672C>T (p.Leu558=)
|
rs2089432768
|
0.00001
|
NM_001242896.3(DEPDC5):c.1674G>A (p.Leu558=)
|
rs199560184
|
0.00001
|
NM_001242896.3(DEPDC5):c.1707C>T (p.Ser569=)
|
rs775170805
|
0.00001
|
NM_001242896.3(DEPDC5):c.1752G>T (p.Leu584=)
|
rs761259227
|
0.00001
|
NM_001242896.3(DEPDC5):c.1870+10T>C
|
rs760092505
|
0.00001
|
NM_001242896.3(DEPDC5):c.1870+9G>T
|
rs777328843
|
0.00001
|
NM_001242896.3(DEPDC5):c.1871-4G>T
|
rs369749039
|
0.00001
|
NM_001242896.3(DEPDC5):c.1923G>A (p.Ala641=)
|
rs779926819
|
0.00001
|
NM_001242896.3(DEPDC5):c.193+19T>C
|
rs1163462300
|
0.00001
|
NM_001242896.3(DEPDC5):c.194-16A>G
|
rs746137304
|
0.00001
|
NM_001242896.3(DEPDC5):c.194-5T>C
|
rs752848631
|
0.00001
|
NM_001242896.3(DEPDC5):c.2019C>G (p.Ser673=)
|
rs372975881
|
0.00001
|
NM_001242896.3(DEPDC5):c.2105-9T>C
|
rs757394980
|
0.00001
|
NM_001242896.3(DEPDC5):c.2171-15del
|
rs752513839
|
0.00001
|
NM_001242896.3(DEPDC5):c.2171-20C>T
|
rs1203577288
|
0.00001
|
NM_001242896.3(DEPDC5):c.2171-9G>A
|
rs770492339
|
0.00001
|
NM_001242896.3(DEPDC5):c.2223A>C (p.Gly741=)
|
rs1396714133
|
0.00001
|
NM_001242896.3(DEPDC5):c.2310C>T (p.Tyr770=)
|
rs2091062429
|
0.00001
|
NM_001242896.3(DEPDC5):c.2355-20C>G
|
rs2091201156
|
0.00001
|
NM_001242896.3(DEPDC5):c.2412C>T (p.Cys804=)
|
rs201290710
|
0.00001
|
NM_001242896.3(DEPDC5):c.2415A>G (p.Gln805=)
|
rs753325764
|
0.00001
|
NM_001242896.3(DEPDC5):c.2466C>A (p.Pro822=)
|
rs770266753
|
0.00001
|
NM_001242896.3(DEPDC5):c.2487G>A (p.Pro829=)
|
rs375697412
|
0.00001
|
NM_001242896.3(DEPDC5):c.2507A>G (p.Tyr836Cys)
|
rs773004067
|
0.00001
|
NM_001242896.3(DEPDC5):c.2516-15T>C
|
rs912283735
|
0.00001
|
NM_001242896.3(DEPDC5):c.2577G>A (p.Thr859=)
|
rs375938114
|
0.00001
|
NM_001242896.3(DEPDC5):c.2633+13A>G
|
rs374679080
|
0.00001
|
NM_001242896.3(DEPDC5):c.2633+7A>G
|
rs1169099672
|
0.00001
|
NM_001242896.3(DEPDC5):c.2691A>C (p.Ser897=)
|
rs754142909
|
0.00001
|
NM_001242896.3(DEPDC5):c.2801+7G>A
|
rs1395300934
|
0.00001
|
NM_001242896.3(DEPDC5):c.2802-4T>G
|
rs747569938
|
0.00001
|
NM_001242896.3(DEPDC5):c.2862C>T (p.Thr954=)
|
rs1027803497
|
0.00001
|
NM_001242896.3(DEPDC5):c.2880G>A (p.Thr960=)
|
rs767693306
|
0.00001
|
NM_001242896.3(DEPDC5):c.2928C>T (p.Asp976=)
|
rs1296594489
|
0.00001
|
NM_001242896.3(DEPDC5):c.3006G>A (p.Ser1002=)
|
rs373751704
|
0.00001
|
NM_001242896.3(DEPDC5):c.3021+11C>A
|
rs770400266
|
0.00001
|
NM_001242896.3(DEPDC5):c.3096A>G (p.Pro1032=)
|
rs756207564
|
0.00001
|
NM_001242896.3(DEPDC5):c.3156-16C>T
|
rs1270595543
|
0.00001
|
NM_001242896.3(DEPDC5):c.3264+14C>T
|
rs980103642
|
0.00001
|
NM_001242896.3(DEPDC5):c.3265-9T>C
|
rs768689366
|
0.00001
|
NM_001242896.3(DEPDC5):c.3339G>A (p.Val1113=)
|
rs2092813775
|
0.00001
|
NM_001242896.3(DEPDC5):c.3348A>G (p.Thr1116=)
|
rs539543831
|
0.00001
|
NM_001242896.3(DEPDC5):c.3408A>G (p.Arg1136=)
|
rs980722756
|
0.00001
|
NM_001242896.3(DEPDC5):c.3459C>T (p.Tyr1153=)
|
rs939428516
|
0.00001
|
NM_001242896.3(DEPDC5):c.3486-16A>G
|
rs1380841561
|
0.00001
|
NM_001242896.3(DEPDC5):c.3522C>T (p.Ser1174=)
|
rs767892121
|
0.00001
|
NM_001242896.3(DEPDC5):c.3531G>A (p.Leu1177=)
|
rs117667178
|
0.00001
|
NM_001242896.3(DEPDC5):c.3563+16C>T
|
rs1251391000
|
0.00001
|
NM_001242896.3(DEPDC5):c.3564-14G>A
|
rs753788636
|
0.00001
|
NM_001242896.3(DEPDC5):c.3621C>T (p.Ser1207=)
|
rs775057646
|
0.00001
|
NM_001242896.3(DEPDC5):c.364-14C>T
|
rs752492298
|
0.00001
|
NM_001242896.3(DEPDC5):c.364-18C>T
|
rs1465763804
|
0.00001
|
NM_001242896.3(DEPDC5):c.3651C>T (p.His1217=)
|
rs765000707
|
0.00001
|
NM_001242896.3(DEPDC5):c.3675G>A (p.Ala1225=)
|
rs751044834
|
0.00001
|
NM_001242896.3(DEPDC5):c.3697-9C>T
|
rs933216548
|
0.00001
|
NM_001242896.3(DEPDC5):c.3732T>A (p.Ser1244=)
|
rs375825436
|
0.00001
|
NM_001242896.3(DEPDC5):c.3735C>T (p.Gly1245=)
|
rs758804451
|
0.00001
|
NM_001242896.3(DEPDC5):c.3759C>T (p.Tyr1253=)
|
rs781064503
|
0.00001
|
NM_001242896.3(DEPDC5):c.3798C>T (p.Pro1266=)
|
rs376187025
|
0.00001
|
NM_001242896.3(DEPDC5):c.3805+9C>T
|
rs369145178
|
0.00001
|
NM_001242896.3(DEPDC5):c.3822C>T (p.Pro1274=)
|
rs750916961
|
0.00001
|
NM_001242896.3(DEPDC5):c.3858C>T (p.Phe1286=)
|
rs192246855
|
0.00001
|
NM_001242896.3(DEPDC5):c.3909C>T (p.Leu1303=)
|
rs545389943
|
0.00001
|
NM_001242896.3(DEPDC5):c.3936C>T (p.Leu1312=)
|
rs200848271
|
0.00001
|
NM_001242896.3(DEPDC5):c.4030T>C (p.Leu1344=)
|
rs1396393025
|
0.00001
|
NM_001242896.3(DEPDC5):c.4047A>C (p.Pro1349=)
|
rs369624291
|
0.00001
|
NM_001242896.3(DEPDC5):c.413+10A>T
|
rs766781814
|
0.00001
|
NM_001242896.3(DEPDC5):c.414-15T>G
|
rs1175270990
|
0.00001
|
NM_001242896.3(DEPDC5):c.414-17T>C
|
rs1479291481
|
0.00001
|
NM_001242896.3(DEPDC5):c.4176G>A (p.Ala1392=)
|
rs758186552
|
0.00001
|
NM_001242896.3(DEPDC5):c.4203+14T>C
|
rs751819239
|
0.00001
|
NM_001242896.3(DEPDC5):c.4204-12A>G
|
rs776995838
|
0.00001
|
NM_001242896.3(DEPDC5):c.4341C>T (p.Cys1447=)
|
rs746283220
|
0.00001
|
NM_001242896.3(DEPDC5):c.4353G>A (p.Glu1451=)
|
rs1285256921
|
0.00001
|
NM_001242896.3(DEPDC5):c.4368G>A (p.Leu1456=)
|
rs2093577003
|
0.00001
|
NM_001242896.3(DEPDC5):c.4377C>T (p.Ser1459=)
|
rs752161342
|
0.00001
|
NM_001242896.3(DEPDC5):c.4458A>G (p.Lys1486=)
|
rs1437297526
|
0.00001
|
NM_001242896.3(DEPDC5):c.4584G>A (p.Arg1528=)
|
rs1385222091
|
0.00001
|
NM_001242896.3(DEPDC5):c.4620C>T (p.Cys1540=)
|
rs756290564
|
0.00001
|
NM_001242896.3(DEPDC5):c.4677C>G (p.Arg1559=)
|
rs763285231
|
0.00001
|
NM_001242896.3(DEPDC5):c.4725C>T (p.Asp1575=)
|
rs777821159
|
0.00001
|
NM_001242896.3(DEPDC5):c.4767G>A (p.Thr1589=)
|
rs1023748508
|
0.00001
|
NM_001242896.3(DEPDC5):c.4791G>A (p.Lys1597=)
|
rs760737915
|
0.00001
|
NM_001242896.3(DEPDC5):c.483+8T>G
|
rs1363426695
|
0.00001
|
NM_001242896.3(DEPDC5):c.58+10G>A
|
rs764108301
|
0.00001
|
NM_001242896.3(DEPDC5):c.681T>C (p.Asp227=)
|
rs775462060
|
0.00001
|
NM_001242896.3(DEPDC5):c.695-10T>C
|
rs1251914595
|
0.00001
|
NM_001242896.3(DEPDC5):c.695-17C>T
|
rs757562173
|
0.00001
|
NM_001242896.3(DEPDC5):c.69A>G (p.Leu23=)
|
rs200119826
|
0.00001
|
NM_001242896.3(DEPDC5):c.767+7T>G
|
rs757375639
|
0.00001
|
NM_001242896.3(DEPDC5):c.768-17G>A
|
rs372671427
|
0.00001
|
NM_001242896.3(DEPDC5):c.768-7T>G
|
rs767679187
|
0.00001
|
NM_001242896.3(DEPDC5):c.872-20T>C
|
rs370170334
|
0.00001
|
NM_001242896.3(DEPDC5):c.930C>A (p.Ile310=)
|
rs1037232699
|
0.00001
|
NM_001242896.3(DEPDC5):c.946+16G>A
|
rs749943635
|
0.00001
|
NM_001242896.3(DEPDC5):c.946+7A>G
|
rs1184606889
|
0.00001
|
NM_001242896.3(DEPDC5):c.947-4C>G
|
rs375836990
|
0.00001
|
NM_004287.5(GOSR2):c.177C>T (p.Pro59=)
|
rs1467890727
|
0.00001
|
NM_004287.5(GOSR2):c.17A>G (p.Gln6Arg)
|
rs749270151
|
0.00001
|
NM_004287.5(GOSR2):c.186A>G (p.Lys62=)
|
rs755897636
|
0.00001
|
NM_004287.5(GOSR2):c.237C>T (p.His79=)
|
rs1186777949
|
0.00001
|
NM_004287.5(GOSR2):c.249G>A (p.Ala83=)
|
rs1057520593
|
0.00001
|
NM_004287.5(GOSR2):c.29+15G>T
|
rs374396285
|
0.00001
|
NM_004287.5(GOSR2):c.30-15C>T
|
rs750704163
|
0.00001
|
NM_004287.5(GOSR2):c.375G>A (p.Gln125=)
|
rs768238866
|
0.00001
|
NM_004287.5(GOSR2):c.39C>T (p.His13=)
|
rs747877774
|
0.00001
|
NM_004287.5(GOSR2):c.478-4C>G
|
rs777442803
|
0.00001
|
NM_004287.5(GOSR2):c.94+12A>G
|
rs369271685
|
0.00001
|
NM_004287.5(GOSR2):c.94+15G>A
|
rs777596710
|
0.00001
|
NM_004287.5(GOSR2):c.95-7T>C
|
rs752611190
|
0.00001
|
NM_005045.4(RELN):c.10047G>A (p.Leu3349=)
|
rs1182345742
|
0.00001
|
NM_005045.4(RELN):c.10060G>A (p.Ala3354Thr)
|
rs776032694
|
0.00001
|
NM_005045.4(RELN):c.10092C>T (p.Ser3364=)
|
rs771849243
|
0.00001
|
NM_005045.4(RELN):c.10267G>A (p.Val3423Met)
|
rs758485261
|
0.00001
|
NM_005045.4(RELN):c.10280+12T>C
|
rs1237155367
|
0.00001
|
NM_005045.4(RELN):c.10368T>C (p.Leu3456=)
|
rs1365324977
|
0.00001
|
NM_005045.4(RELN):c.1092C>T (p.Leu364=)
|
rs142192165
|
0.00001
|
NM_005045.4(RELN):c.1182T>C (p.His394=)
|
rs950359826
|
0.00001
|
NM_005045.4(RELN):c.1290-7T>A
|
rs369642019
|
0.00001
|
NM_005045.4(RELN):c.1290-8T>A
|
rs780427501
|
0.00001
|
NM_005045.4(RELN):c.1368T>C (p.Asp456=)
|
rs769032002
|
0.00001
|
NM_005045.4(RELN):c.1374G>A (p.Glu458=)
|
rs1378977181
|
0.00001
|
NM_005045.4(RELN):c.1389T>G (p.Thr463=)
|
rs1448638087
|
0.00001
|
NM_005045.4(RELN):c.1408G>A (p.Gly470Ser)
|
rs751267755
|
0.00001
|
NM_005045.4(RELN):c.1480A>G (p.Ile494Val)
|
rs372015884
|
0.00001
|
NM_005045.4(RELN):c.1482A>T (p.Ile494=)
|
rs764121311
|
0.00001
|
NM_005045.4(RELN):c.1506A>G (p.Gly502=)
|
rs774716885
|
0.00001
|
NM_005045.4(RELN):c.1533C>T (p.Thr511=)
|
rs746537027
|
0.00001
|
NM_005045.4(RELN):c.1626A>G (p.Gln542=)
|
rs1244905315
|
0.00001
|
NM_005045.4(RELN):c.1692C>T (p.Leu564=)
|
rs777459026
|
0.00001
|
NM_005045.4(RELN):c.1696T>A (p.Ser566Thr)
|
rs200058688
|
0.00001
|
NM_005045.4(RELN):c.176T>C (p.Leu59Pro)
|
rs1466636409
|
0.00001
|
NM_005045.4(RELN):c.1796G>A (p.Arg599His)
|
rs201371180
|
0.00001
|
NM_005045.4(RELN):c.1831G>A (p.Glu611Lys)
|
rs776124922
|
0.00001
|
NM_005045.4(RELN):c.1848C>T (p.Pro616=)
|
rs564122518
|
0.00001
|
NM_005045.4(RELN):c.1890T>C (p.Ser630=)
|
rs1584377776
|
0.00001
|
NM_005045.4(RELN):c.1893-14T>C
|
rs1199405213
|
0.00001
|
NM_005045.4(RELN):c.1909A>G (p.Ile637Val)
|
rs530120957
|
0.00001
|
NM_005045.4(RELN):c.1913C>T (p.Pro638Leu)
|
rs114993407
|
0.00001
|
NM_005045.4(RELN):c.1924G>A (p.Ala642Thr)
|
rs201735865
|
0.00001
|
NM_005045.4(RELN):c.1952G>A (p.Arg651His)
|
rs144078760
|
0.00001
|
NM_005045.4(RELN):c.2019A>G (p.Ser673=)
|
rs746420791
|
0.00001
|
NM_005045.4(RELN):c.2070-11A>G
|
rs536798505
|
0.00001
|
NM_005045.4(RELN):c.2070-7C>G
|
rs377082782
|
0.00001
|
NM_005045.4(RELN):c.214C>G (p.Gln72Glu)
|
rs775097828
|
0.00001
|
NM_005045.4(RELN):c.2211T>C (p.Gly737=)
|
rs1201821080
|
0.00001
|
NM_005045.4(RELN):c.226+7A>T
|
rs895561494
|
0.00001
|
NM_005045.4(RELN):c.22C>G (p.Arg8Gly)
|
rs1470522542
|
0.00001
|
NM_005045.4(RELN):c.2313G>T (p.Gln771His)
|
rs777581847
|
0.00001
|
NM_005045.4(RELN):c.2361C>T (p.Ala787=)
|
rs1832560651
|
0.00001
|
NM_005045.4(RELN):c.2434C>G (p.His812Asp)
|
rs3025968
|
0.00001
|
NM_005045.4(RELN):c.2442A>G (p.Ser814=)
|
rs759128344
|
0.00001
|
NM_005045.4(RELN):c.2475C>T (p.Ser825=)
|
rs757750180
|
0.00001
|
NM_005045.4(RELN):c.2537A>G (p.His846Arg)
|
rs751135625
|
0.00001
|
NM_005045.4(RELN):c.255C>T (p.Asp85=)
|
rs745932066
|
0.00001
|
NM_005045.4(RELN):c.2580C>T (p.Ile860=)
|
rs149804405
|
0.00001
|
NM_005045.4(RELN):c.2586A>G (p.Thr862=)
|
rs747000656
|
0.00001
|
NM_005045.4(RELN):c.2666A>G (p.Asn889Ser)
|
rs757941136
|
0.00001
|
NM_005045.4(RELN):c.2703-9C>G
|
rs775212341
|
0.00001
|
NM_005045.4(RELN):c.2737C>T (p.Arg913Cys)
|
rs771172788
|
0.00001
|
NM_005045.4(RELN):c.276A>G (p.Leu92=)
|
rs753140684
|
0.00001
|
NM_005045.4(RELN):c.2895+8T>C
|
rs1157322673
|
0.00001
|
NM_005045.4(RELN):c.2896-14del
|
rs1456669907
|
0.00001
|
NM_005045.4(RELN):c.2934A>T (p.Thr978=)
|
rs1831933950
|
0.00001
|
NM_005045.4(RELN):c.2949C>T (p.Tyr983=)
|
rs776779660
|
0.00001
|
NM_005045.4(RELN):c.2976G>A (p.Arg992=)
|
rs1250895278
|
0.00001
|
NM_005045.4(RELN):c.3008+9A>G
|
rs370615329
|
0.00001
|
NM_005045.4(RELN):c.3009-11C>T
|
rs775663896
|
0.00001
|
NM_005045.4(RELN):c.3028C>T (p.Arg1010Cys)
|
rs375752077
|
0.00001
|
NM_005045.4(RELN):c.3129C>T (p.Cys1043=)
|
rs149062691
|
0.00001
|
NM_005045.4(RELN):c.3146+9A>G
|
rs770607243
|
0.00001
|
NM_005045.4(RELN):c.3147-15C>T
|
rs773147896
|
0.00001
|
NM_005045.4(RELN):c.3147-19C>T
|
rs749025430
|
0.00001
|
NM_005045.4(RELN):c.3210G>A (p.Met1070Ile)
|
rs1298824421
|
0.00001
|
NM_005045.4(RELN):c.3288A>G (p.Gln1096=)
|
rs758505618
|
0.00001
|
NM_005045.4(RELN):c.3309T>C (p.Ser1103=)
|
rs1831723080
|
0.00001
|
NM_005045.4(RELN):c.3334-18T>A
|
rs756539659
|
0.00001
|
NM_005045.4(RELN):c.337+20C>T
|
rs1462252546
|
0.00001
|
NM_005045.4(RELN):c.337+8A>G
|
rs779117982
|
0.00001
|
NM_005045.4(RELN):c.34C>T (p.Leu12Phe)
|
rs760894850
|
0.00001
|
NM_005045.4(RELN):c.3511A>G (p.Met1171Val)
|
rs374443790
|
0.00001
|
NM_005045.4(RELN):c.3539+15G>A
|
rs1562912702
|
0.00001
|
NM_005045.4(RELN):c.3645T>C (p.Asp1215=)
|
rs571231412
|
0.00001
|
NM_005045.4(RELN):c.3673A>G (p.Lys1225Glu)
|
rs747877040
|
0.00001
|
NM_005045.4(RELN):c.3711+9_3711+10del
|
rs1482562155
|
0.00001
|
NM_005045.4(RELN):c.3712-7C>A
|
rs1240051573
|
0.00001
|
NM_005045.4(RELN):c.3849T>G (p.Asp1283Glu)
|
rs964191577
|
0.00001
|
NM_005045.4(RELN):c.3912+14A>G
|
rs777883012
|
0.00001
|
NM_005045.4(RELN):c.3939C>T (p.Phe1313=)
|
rs781481738
|
0.00001
|
NM_005045.4(RELN):c.396C>T (p.His132=)
|
rs747450340
|
0.00001
|
NM_005045.4(RELN):c.397G>A (p.Val133Met)
|
rs200611900
|
0.00001
|
NM_005045.4(RELN):c.4006G>C (p.Glu1336Gln)
|
rs758828226
|
0.00001
|
NM_005045.4(RELN):c.4041C>T (p.Cys1347=)
|
rs762723785
|
0.00001
|
NM_005045.4(RELN):c.4075A>G (p.Met1359Val)
|
rs772573526
|
0.00001
|
NM_005045.4(RELN):c.408G>C (p.Leu136=)
|
rs1554427416
|
0.00001
|
NM_005045.4(RELN):c.4395A>C (p.Ile1465=)
|
rs777127263
|
0.00001
|
NM_005045.4(RELN):c.4441A>G (p.Lys1481Glu)
|
rs896069835
|
0.00001
|
NM_005045.4(RELN):c.4481G>A (p.Arg1494Gln)
|
rs540271067
|
0.00001
|
NM_005045.4(RELN):c.4482G>A (p.Arg1494=)
|
rs377181911
|
0.00001
|
NM_005045.4(RELN):c.450G>A (p.Ala150=)
|
rs767384684
|
0.00001
|
NM_005045.4(RELN):c.4512-17A>C
|
rs1219932433
|
0.00001
|
NM_005045.4(RELN):c.4521A>G (p.Gln1507=)
|
rs1172611728
|
0.00001
|
NM_005045.4(RELN):c.4542C>T (p.Ser1514=)
|
rs1317877632
|
0.00001
|
NM_005045.4(RELN):c.4632T>C (p.His1544=)
|
rs759271716
|
0.00001
|
NM_005045.4(RELN):c.4713T>C (p.Pro1571=)
|
rs546656701
|
0.00001
|
NM_005045.4(RELN):c.4747+13T>C
|
rs1399403953
|
0.00001
|
NM_005045.4(RELN):c.4785T>A (p.Leu1595=)
|
rs1216022913
|
0.00001
|
NM_005045.4(RELN):c.4865G>A (p.Arg1622Gln)
|
rs114306581
|
0.00001
|
NM_005045.4(RELN):c.4903A>G (p.Met1635Val)
|
rs746451678
|
0.00001
|
NM_005045.4(RELN):c.4907A>G (p.Asp1636Gly)
|
rs587780439
|
0.00001
|
NM_005045.4(RELN):c.4918A>G (p.Ile1640Val)
|
rs756988903
|
0.00001
|
NM_005045.4(RELN):c.4936+11T>G
|
rs767475321
|
0.00001
|
NM_005045.4(RELN):c.4936+7A>T
|
rs1219192080
|
0.00001
|
NM_005045.4(RELN):c.4950T>C (p.Tyr1650=)
|
rs145072594
|
0.00001
|
NM_005045.4(RELN):c.4977A>G (p.Ser1659=)
|
rs766447756
|
0.00001
|
NM_005045.4(RELN):c.5048A>T (p.Gln1683Leu)
|
rs573252865
|
0.00001
|
NM_005045.4(RELN):c.5146A>G (p.Ile1716Val)
|
rs776664031
|
0.00001
|
NM_005045.4(RELN):c.5180G>A (p.Arg1727Gln)
|
rs754100999
|
0.00001
|
NM_005045.4(RELN):c.5210+8T>C
|
rs1207146460
|
0.00001
|
NM_005045.4(RELN):c.5268C>T (p.Ser1756=)
|
rs756732080
|
0.00001
|
NM_005045.4(RELN):c.5289A>G (p.Val1763=)
|
rs1197000172
|
0.00001
|
NM_005045.4(RELN):c.5300G>A (p.Gly1767Glu)
|
rs766384576
|
0.00001
|
NM_005045.4(RELN):c.5352-14C>A
|
rs779693262
|
0.00001
|
NM_005045.4(RELN):c.5352-9C>G
|
rs758405612
|
0.00001
|
NM_005045.4(RELN):c.5379T>C (p.Tyr1793=)
|
rs772320097
|
0.00001
|
NM_005045.4(RELN):c.5393T>C (p.Val1798Ala)
|
rs774664608
|
0.00001
|
NM_005045.4(RELN):c.544+7G>A
|
rs747634030
|
0.00001
|
NM_005045.4(RELN):c.545-13T>C
|
rs374325507
|
0.00001
|
NM_005045.4(RELN):c.5462A>G (p.Tyr1821Cys)
|
rs756424740
|
0.00001
|
NM_005045.4(RELN):c.5498T>C (p.Ile1833Thr)
|
rs766824018
|
0.00001
|
NM_005045.4(RELN):c.5547T>C (p.Leu1849=)
|
rs766701326
|
0.00001
|
NM_005045.4(RELN):c.5564A>G (p.Asp1855Gly)
|
rs773698234
|
0.00001
|
NM_005045.4(RELN):c.5605A>G (p.Ile1869Val)
|
rs749251239
|
0.00001
|
NM_005045.4(RELN):c.5700T>C (p.Phe1900=)
|
rs766948394
|
0.00001
|
NM_005045.4(RELN):c.570A>T (p.Pro190=)
|
rs768360835
|
0.00001
|
NM_005045.4(RELN):c.5730T>C (p.Asn1910=)
|
rs761717557
|
0.00001
|
NM_005045.4(RELN):c.5742A>G (p.Pro1914=)
|
rs973154658
|
0.00001
|
NM_005045.4(RELN):c.577+9T>C
|
rs750186579
|
0.00001
|
NM_005045.4(RELN):c.5790T>C (p.Tyr1930=)
|
rs797045916
|
0.00001
|
NM_005045.4(RELN):c.5797+7A>C
|
rs1445845325
|
0.00001
|
NM_005045.4(RELN):c.589A>G (p.Ser197Gly)
|
rs756193988
|
0.00001
|
NM_005045.4(RELN):c.5904C>A (p.Asp1968Glu)
|
rs142987135
|
0.00001
|
NM_005045.4(RELN):c.5934C>T (p.Ile1978=)
|
rs141509094
|
0.00001
|
NM_005045.4(RELN):c.5970-8T>G
|
rs1397359357
|
0.00001
|
NM_005045.4(RELN):c.5973A>G (p.Glu1991=)
|
rs888620136
|
0.00001
|
NM_005045.4(RELN):c.6032G>A (p.Arg2011His)
|
rs762880714
|
0.00001
|
NM_005045.4(RELN):c.6036C>G (p.Asp2012Glu)
|
rs114461466
|
0.00001
|
NM_005045.4(RELN):c.6089C>T (p.Ser2030Leu)
|
rs779803541
|
0.00001
|
NM_005045.4(RELN):c.6105C>T (p.Ser2035=)
|
rs375117582
|
0.00001
|
NM_005045.4(RELN):c.6163C>T (p.Leu2055=)
|
rs757357348
|
0.00001
|
NM_005045.4(RELN):c.6164T>C (p.Leu2055Pro)
|
rs1190177632
|
0.00001
|
NM_005045.4(RELN):c.6192C>T (p.His2064=)
|
rs764737797
|
0.00001
|
NM_005045.4(RELN):c.6273C>T (p.Val2091=)
|
rs143293865
|
0.00001
|
NM_005045.4(RELN):c.6302+11G>A
|
rs763643417
|
0.00001
|
NM_005045.4(RELN):c.6303-9C>T
|
rs200658237
|
0.00001
|
NM_005045.4(RELN):c.6342C>T (p.Ala2114=)
|
rs763529790
|
0.00001
|
NM_005045.4(RELN):c.6351G>A (p.Gln2117=)
|
rs752431895
|
0.00001
|
NM_005045.4(RELN):c.6353C>T (p.Pro2118Leu)
|
rs767320971
|
0.00001
|
NM_005045.4(RELN):c.6431A>G (p.Asn2144Ser)
|
rs776658515
|
0.00001
|
NM_005045.4(RELN):c.6471A>G (p.Pro2157=)
|
rs370086835
|
0.00001
|
NM_005045.4(RELN):c.656+9C>T
|
rs760168751
|
0.00001
|
NM_005045.4(RELN):c.6579G>A (p.Lys2193=)
|
rs764925228
|
0.00001
|
NM_005045.4(RELN):c.6770C>T (p.Ser2257Leu)
|
rs773832988
|
0.00001
|
NM_005045.4(RELN):c.6771G>A (p.Ser2257=)
|
rs367867782
|
0.00001
|
NM_005045.4(RELN):c.6906C>T (p.Phe2302=)
|
rs747931938
|
0.00001
|
NM_005045.4(RELN):c.6930+10T>G
|
rs754217683
|
0.00001
|
NM_005045.4(RELN):c.6931-7A>G
|
rs1206292892
|
0.00001
|
NM_005045.4(RELN):c.6938T>C (p.Ile2313Thr)
|
rs141004002
|
0.00001
|
NM_005045.4(RELN):c.7094T>G (p.Val2365Gly)
|
rs1424394208
|
0.00001
|
NM_005045.4(RELN):c.7128C>G (p.Ser2376=)
|
rs116057819
|
0.00001
|
NM_005045.4(RELN):c.7160C>T (p.Ser2387Leu)
|
rs539045917
|
0.00001
|
NM_005045.4(RELN):c.7173T>C (p.Ser2391=)
|
rs770948566
|
0.00001
|
NM_005045.4(RELN):c.717C>T (p.Ala239=)
|
rs368472328
|
0.00001
|
NM_005045.4(RELN):c.7180+8T>C
|
rs1022021889
|
0.00001
|
NM_005045.4(RELN):c.7182G>A (p.Ala2394=)
|
rs879182818
|
0.00001
|
NM_005045.4(RELN):c.7349+16C>G
|
rs1830024527
|
0.00001
|
NM_005045.4(RELN):c.7398G>A (p.Lys2466=)
|
rs376360223
|
0.00001
|
NM_005045.4(RELN):c.7407A>G (p.Thr2469=)
|
rs1287285958
|
0.00001
|
NM_005045.4(RELN):c.7451T>C (p.Met2484Thr)
|
rs1402071263
|
0.00001
|
NM_005045.4(RELN):c.7488C>T (p.Cys2496=)
|
rs749810768
|
0.00001
|
NM_005045.4(RELN):c.7533G>A (p.Glu2511=)
|
rs746541692
|
0.00001
|
NM_005045.4(RELN):c.7554C>T (p.Leu2518=)
|
rs115728370
|
0.00001
|
NM_005045.4(RELN):c.7614A>G (p.Lys2538=)
|
rs762366813
|
0.00001
|
NM_005045.4(RELN):c.7641G>A (p.Ala2547=)
|
rs749089939
|
0.00001
|
NM_005045.4(RELN):c.7668+13C>T
|
rs751859147
|
0.00001
|
NM_005045.4(RELN):c.7668+16C>T
|
rs1286551839
|
0.00001
|
NM_005045.4(RELN):c.7713T>C (p.Asn2571=)
|
rs1359170573
|
0.00001
|
NM_005045.4(RELN):c.7739T>C (p.Met2580Thr)
|
rs758615073
|
0.00001
|
NM_005045.4(RELN):c.7862+10C>T
|
rs778110918
|
0.00001
|
NM_005045.4(RELN):c.7862+19A>G
|
rs1333674461
|
0.00001
|
NM_005045.4(RELN):c.7915C>T (p.Arg2639Cys)
|
rs770944264
|
0.00001
|
NM_005045.4(RELN):c.7938C>T (p.Asp2646=)
|
rs748558740
|
0.00001
|
NM_005045.4(RELN):c.7974C>T (p.Val2658=)
|
rs1279589989
|
0.00001
|
NM_005045.4(RELN):c.8013G>A (p.Leu2671=)
|
rs1427557542
|
0.00001
|
NM_005045.4(RELN):c.8028C>T (p.Ser2676=)
|
rs777057396
|
0.00001
|
NM_005045.4(RELN):c.8076C>T (p.Val2692=)
|
rs772775437
|
0.00001
|
NM_005045.4(RELN):c.8119+12A>G
|
rs779816123
|
0.00001
|
NM_005045.4(RELN):c.8119+14A>C
|
rs1309521769
|
0.00001
|
NM_005045.4(RELN):c.8146G>A (p.Asp2716Asn)
|
rs771804551
|
0.00001
|
NM_005045.4(RELN):c.8199C>T (p.Gly2733=)
|
rs1829388946
|
0.00001
|
NM_005045.4(RELN):c.8202T>C (p.Ser2734=)
|
rs756304815
|
0.00001
|
NM_005045.4(RELN):c.8217G>C (p.Glu2739Asp)
|
rs776006380
|
0.00001
|
NM_005045.4(RELN):c.8261T>G (p.Ile2754Ser)
|
rs771681966
|
0.00001
|
NM_005045.4(RELN):c.8418G>A (p.Gln2806=)
|
rs922987625
|
0.00001
|
NM_005045.4(RELN):c.841A>C (p.Ser281Arg)
|
rs745910911
|
0.00001
|
NM_005045.4(RELN):c.8425G>A (p.Val2809Ile)
|
rs377669512
|
0.00001
|
NM_005045.4(RELN):c.8446T>C (p.Trp2816Arg)
|
rs758525714
|
0.00001
|
NM_005045.4(RELN):c.8490-4A>G
|
rs759954678
|
0.00001
|
NM_005045.4(RELN):c.8541C>T (p.Ile2847=)
|
rs746020620
|
0.00001
|
NM_005045.4(RELN):c.8559C>T (p.Gly2853=)
|
rs749622361
|
0.00001
|
NM_005045.4(RELN):c.8637G>A (p.Gly2879=)
|
rs775643854
|
0.00001
|
NM_005045.4(RELN):c.8667+17G>A
|
rs749919235
|
0.00001
|
NM_005045.4(RELN):c.8667+7G>A
|
rs374916288
|
0.00001
|
NM_005045.4(RELN):c.8668-17G>A
|
rs1309138411
|
0.00001
|
NM_005045.4(RELN):c.8685C>T (p.Arg2895=)
|
rs201097384
|
0.00001
|
NM_005045.4(RELN):c.8729A>G (p.Glu2910Gly)
|
rs889984899
|
0.00001
|
NM_005045.4(RELN):c.875C>T (p.Ala292Val)
|
rs138975479
|
0.00001
|
NM_005045.4(RELN):c.876G>A (p.Ala292=)
|
rs757968034
|
0.00001
|
NM_005045.4(RELN):c.8802G>A (p.Val2934=)
|
rs1182011781
|
0.00001
|
NM_005045.4(RELN):c.8843+10T>A
|
rs747781226
|
0.00001
|
NM_005045.4(RELN):c.8843+9A>G
|
rs567245963
|
0.00001
|
NM_005045.4(RELN):c.8895C>T (p.Cys2965=)
|
rs901430026
|
0.00001
|
NM_005045.4(RELN):c.8900G>A (p.Arg2967His)
|
rs753114314
|
0.00001
|
NM_005045.4(RELN):c.8911C>T (p.Arg2971Trp)
|
rs767932869
|
0.00001
|
NM_005045.4(RELN):c.8923G>A (p.Val2975Met)
|
rs369856463
|
0.00001
|
NM_005045.4(RELN):c.8970C>T (p.Leu2990=)
|
rs931942559
|
0.00001
|
NM_005045.4(RELN):c.9009C>T (p.His3003=)
|
rs750882329
|
0.00001
|
NM_005045.4(RELN):c.9016A>C (p.Ile3006Leu)
|
rs755660948
|
0.00001
|
NM_005045.4(RELN):c.9105G>A (p.Gly3035=)
|
rs1279644782
|
0.00001
|
NM_005045.4(RELN):c.9194-10T>C
|
rs1242391167
|
0.00001
|
NM_005045.4(RELN):c.9279C>T (p.Leu3093=)
|
rs138856852
|
0.00001
|
NM_005045.4(RELN):c.9281A>G (p.Tyr3094Cys)
|
rs750252271
|
0.00001
|
NM_005045.4(RELN):c.9309T>A (p.Thr3103=)
|
rs753680411
|
0.00001
|
NM_005045.4(RELN):c.9399T>C (p.Cys3133=)
|
rs752787017
|
0.00001
|
NM_005045.4(RELN):c.9589G>A (p.Asp3197Asn)
|
rs147777191
|
0.00001
|
NM_005045.4(RELN):c.9605+14T>C
|
rs748000925
|
0.00001
|
NM_005045.4(RELN):c.9605+9C>T
|
rs1395438694
|
0.00001
|
NM_005045.4(RELN):c.9672C>T (p.His3224=)
|
rs781754733
|
0.00001
|
NM_005045.4(RELN):c.9763+7A>C
|
rs1236844032
|
0.00001
|
NM_005045.4(RELN):c.9790G>A (p.Asp3264Asn)
|
rs770064368
|
0.00001
|
NM_005045.4(RELN):c.9813T>C (p.Asp3271=)
|
rs780599729
|
0.00001
|
NM_005045.4(RELN):c.9924C>T (p.Tyr3308=)
|
rs772582250
|
0.00001
|
NM_005045.4(RELN):c.9948A>G (p.Gln3316=)
|
rs141930548
|
0.00001
|
NM_005076.5(CNTN2):c.1035T>C (p.Arg345=)
|
rs373583007
|
0.00001
|
NM_005076.5(CNTN2):c.1053C>T (p.Ala351=)
|
rs140963950
|
0.00001
|
NM_005076.5(CNTN2):c.1071A>T (p.Thr357=)
|
rs1340324829
|
0.00001
|
NM_005076.5(CNTN2):c.1111-11C>T
|
rs765974056
|
0.00001
|
NM_005076.5(CNTN2):c.1125G>A (p.Val375=)
|
rs758300776
|
0.00001
|
NM_005076.5(CNTN2):c.1173C>A (p.Gly391=)
|
rs370344142
|
0.00001
|
NM_005076.5(CNTN2):c.1240+8G>A
|
rs773641285
|
0.00001
|
NM_005076.5(CNTN2):c.1293C>T (p.Ala431=)
|
rs1173989105
|
0.00001
|
NM_005076.5(CNTN2):c.1296C>T (p.Arg432=)
|
rs781749087
|
0.00001
|
NM_005076.5(CNTN2):c.1347G>A (p.Val449=)
|
rs781410852
|
0.00001
|
NM_005076.5(CNTN2):c.1391+13C>T
|
rs761450268
|
0.00001
|
NM_005076.5(CNTN2):c.1391+15C>T
|
rs569433119
|
0.00001
|
NM_005076.5(CNTN2):c.1554C>T (p.Ala518=)
|
rs769684489
|
0.00001
|
NM_005076.5(CNTN2):c.1578G>A (p.Leu526=)
|
rs998708044
|
0.00001
|
NM_005076.5(CNTN2):c.1695+7C>T
|
rs1433018634
|
0.00001
|
NM_005076.5(CNTN2):c.1878C>A (p.Leu626=)
|
rs1486789598
|
0.00001
|
NM_005076.5(CNTN2):c.1980T>C (p.Pro660=)
|
rs760622164
|
0.00001
|
NM_005076.5(CNTN2):c.198C>T (p.Ser66=)
|
rs1653745328
|
0.00001
|
NM_005076.5(CNTN2):c.2019G>T (p.Leu673=)
|
rs776431413
|
0.00001
|
NM_005076.5(CNTN2):c.2154C>T (p.Ser718=)
|
rs1177695422
|
0.00001
|
NM_005076.5(CNTN2):c.216-15T>G
|
rs780295997
|
0.00001
|
NM_005076.5(CNTN2):c.2163T>C (p.Gly721=)
|
rs756031843
|
0.00001
|
NM_005076.5(CNTN2):c.2232C>T (p.Phe744=)
|
rs866464813
|
0.00001
|
NM_005076.5(CNTN2):c.2280C>T (p.Thr760=)
|
rs767244012
|
0.00001
|
NM_005076.5(CNTN2):c.2431+12C>G
|
rs1436970258
|
0.00001
|
NM_005076.5(CNTN2):c.2432-6C>T
|
rs766760353
|
0.00001
|
NM_005076.5(CNTN2):c.2432-8G>T
|
rs374180490
|
0.00001
|
NM_005076.5(CNTN2):c.2490C>T (p.Asn830=)
|
rs776333018
|
0.00001
|
NM_005076.5(CNTN2):c.2505C>T (p.Pro835=)
|
rs1279325074
|
0.00001
|
NM_005076.5(CNTN2):c.2544+15G>A
|
rs1451392241
|
0.00001
|
NM_005076.5(CNTN2):c.2545-9C>T
|
rs766586200
|
0.00001
|
NM_005076.5(CNTN2):c.2661C>T (p.Thr887=)
|
rs769988245
|
0.00001
|
NM_005076.5(CNTN2):c.2712C>T (p.Asn904=)
|
rs1339606709
|
0.00001
|
NM_005076.5(CNTN2):c.2731+16T>C
|
rs749504685
|
0.00001
|
NM_005076.5(CNTN2):c.3001G>A (p.Val1001Met)
|
rs369729930
|
0.00001
|
NM_005076.5(CNTN2):c.3009T>C (p.Asn1003=)
|
rs757390584
|
0.00001
|
NM_005076.5(CNTN2):c.3069C>T (p.Thr1023=)
|
rs756612071
|
0.00001
|
NM_005076.5(CNTN2):c.3090G>A (p.Ala1030=)
|
rs772810010
|
0.00001
|
NM_005076.5(CNTN2):c.3114G>A (p.Leu1038=)
|
rs946694379
|
0.00001
|
NM_005076.5(CNTN2):c.3122G>A (p.Ter1041=)
|
rs1654722229
|
0.00001
|
NM_005076.5(CNTN2):c.391+9C>T
|
rs531062186
|
0.00001
|
NM_005076.5(CNTN2):c.423C>T (p.Asp141=)
|
rs774281069
|
0.00001
|
NM_005076.5(CNTN2):c.468C>T (p.Asn156=)
|
rs1395072638
|
0.00001
|
NM_005076.5(CNTN2):c.576G>A (p.Leu192=)
|
rs1232729829
|
0.00001
|
NM_005076.5(CNTN2):c.594T>C (p.Asn198=)
|
rs143234717
|
0.00001
|
NM_005076.5(CNTN2):c.657C>T (p.Ser219=)
|
rs752354425
|
0.00001
|
NM_005076.5(CNTN2):c.71-19G>A
|
rs762328579
|
0.00001
|
NM_005076.5(CNTN2):c.765G>A (p.Gln255=)
|
rs1318994065
|
0.00001
|
NM_005076.5(CNTN2):c.885C>T (p.Ser295=)
|
rs765220880
|
0.00001
|
NM_005076.5(CNTN2):c.974-4A>G
|
rs1653998862
|
0.00001
|
NM_005097.4(LGI1):c.1011A>T (p.Thr337=)
|
rs772127033
|
0.00001
|
NM_005097.4(LGI1):c.1095C>T (p.Asn365=)
|
rs934556455
|
0.00001
|
NM_005097.4(LGI1):c.1170A>G (p.Thr390=)
|
rs1252407810
|
0.00001
|
NM_005097.4(LGI1):c.1314C>T (p.Phe438=)
|
rs1312538262
|
0.00001
|
NM_005097.4(LGI1):c.1329C>T (p.Asp443=)
|
rs748900375
|
0.00001
|
NM_005097.4(LGI1):c.1342T>C (p.Leu448=)
|
rs376203682
|
0.00001
|
NM_005097.4(LGI1):c.1371C>T (p.Val457=)
|
rs2059991277
|
0.00001
|
NM_005097.4(LGI1):c.1407G>A (p.Gln469=)
|
rs767491633
|
0.00001
|
NM_005097.4(LGI1):c.1422A>G (p.Arg474=)
|
rs2059991677
|
0.00001
|
NM_005097.4(LGI1):c.1671A>C (p.Ala557=)
|
rs756693272
|
0.00001
|
NM_005097.4(LGI1):c.216-18T>C
|
rs779957598
|
0.00001
|
NM_005097.4(LGI1):c.219C>T (p.Ser73=)
|
rs780811762
|
0.00001
|
NM_005097.4(LGI1):c.261T>C (p.Phe87=)
|
rs1379302749
|
0.00001
|
NM_005097.4(LGI1):c.288G>A (p.Leu96=)
|
rs761037722
|
0.00001
|
NM_005097.4(LGI1):c.297A>C (p.Thr99=)
|
rs777027658
|
0.00001
|
NM_005097.4(LGI1):c.299C>T (p.Ser100Leu)
|
rs1263918669
|
0.00001
|
NM_005097.4(LGI1):c.327T>C (p.Asp109=)
|
rs1245324867
|
0.00001
|
NM_005097.4(LGI1):c.360-7A>G
|
rs770317882
|
0.00001
|
NM_005097.4(LGI1):c.393A>G (p.Ser131=)
|
rs199548601
|
0.00001
|
NM_005097.4(LGI1):c.430T>C (p.Leu144=)
|
rs764298959
|
0.00001
|
NM_005097.4(LGI1):c.504-20A>G
|
rs796052691
|
0.00001
|
NM_005097.4(LGI1):c.519T>C (p.Asn173=)
|
rs587780379
|
0.00001
|
NM_005097.4(LGI1):c.528T>C (p.Asn176=)
|
rs2059947443
|
0.00001
|
NM_005097.4(LGI1):c.609C>T (p.Pro203=)
|
rs750257566
|
0.00001
|
NM_005097.4(LGI1):c.69A>G (p.Leu23=)
|
rs868635600
|
0.00001
|
NM_005097.4(LGI1):c.838+10G>A
|
rs756267808
|
0.00001
|
NM_005097.4(LGI1):c.96T>C (p.Thr32=)
|
rs763640706
|
0.00001
|
NM_005506.4(SCARB2):c.1113+19C>G
|
rs1362440207
|
0.00001
|
NM_005506.4(SCARB2):c.114G>A (p.Glu38=)
|
rs534686738
|
0.00001
|
NM_005506.4(SCARB2):c.117+10G>A
|
rs760111311
|
0.00001
|
NM_005506.4(SCARB2):c.117+13G>A
|
rs1391392584
|
0.00001
|
NM_005506.4(SCARB2):c.117+14G>A
|
rs772998739
|
0.00001
|
NM_005506.4(SCARB2):c.1188-5T>C
|
rs775387526
|
0.00001
|
NM_005506.4(SCARB2):c.1193C>T (p.Thr398Met)
|
rs759493134
|
0.00001
|
NM_005506.4(SCARB2):c.1240-9C>T
|
rs369557905
|
0.00001
|
NM_005506.4(SCARB2):c.1399-8T>C
|
rs1731903272
|
0.00001
|
NM_005506.4(SCARB2):c.1425C>T (p.Leu475=)
|
rs780985651
|
0.00001
|
NM_005506.4(SCARB2):c.147A>C (p.Ala49=)
|
rs764449103
|
0.00001
|
NM_005506.4(SCARB2):c.172C>T (p.Leu58=)
|
rs1051789209
|
0.00001
|
NM_005506.4(SCARB2):c.18C>T (p.Phe6=)
|
rs1733112720
|
0.00001
|
NM_005506.4(SCARB2):c.264A>G (p.Pro88=)
|
rs765664728
|
0.00001
|
NM_005506.4(SCARB2):c.276-17C>T
|
rs1732375088
|
0.00001
|
NM_005506.4(SCARB2):c.33G>T (p.Thr11=)
|
rs774721226
|
0.00001
|
NM_005506.4(SCARB2):c.400A>C (p.Arg134=)
|
rs747696444
|
0.00001
|
NM_005506.4(SCARB2):c.423+7A>C
|
rs1380805649
|
0.00001
|
NM_005506.4(SCARB2):c.579C>T (p.Pro193=)
|
rs148029250
|
0.00001
|
NM_005506.4(SCARB2):c.613-14T>G
|
rs1484418425
|
0.00001
|
NM_005506.4(SCARB2):c.690A>G (p.Glu230=)
|
rs957776724
|
0.00001
|
NM_005506.4(SCARB2):c.704+17A>G
|
rs762520392
|
0.00001
|
NM_005506.4(SCARB2):c.705-20C>G
|
rs747460425
|
0.00001
|
NM_005506.4(SCARB2):c.921C>T (p.Asp307=)
|
rs1732196836
|
0.00001
|
NM_005670.4(EPM2A):c.120G>A (p.Leu40=)
|
rs1264709179
|
0.00001
|
NM_005670.4(EPM2A):c.18G>A (p.Gly6=)
|
rs1432262857
|
0.00001
|
NM_005670.4(EPM2A):c.210G>A (p.Glu70=)
|
rs878854780
|
0.00001
|
NM_005670.4(EPM2A):c.237C>T (p.Gly79=)
|
rs755339527
|
0.00001
|
NM_005670.4(EPM2A):c.252C>T (p.Phe84=)
|
rs1362231306
|
0.00001
|
NM_005670.4(EPM2A):c.279G>A (p.Pro93=)
|
rs370423440
|
0.00001
|
NM_005670.4(EPM2A):c.301+16G>A
|
rs1286855280
|
0.00001
|
NM_005670.4(EPM2A):c.36C>T (p.Ala12=)
|
rs1287653139
|
0.00001
|
NM_005670.4(EPM2A):c.477-14T>C
|
rs914299630
|
0.00001
|
NM_005670.4(EPM2A):c.477-15A>G
|
rs542654431
|
0.00001
|
NM_005670.4(EPM2A):c.666G>A (p.Arg222=)
|
rs762189100
|
0.00001
|
NM_005670.4(EPM2A):c.714C>T (p.Thr238=)
|
rs762653955
|
0.00001
|
NM_005670.4(EPM2A):c.719-5C>T
|
rs768538455
|
0.00001
|
NM_005670.4(EPM2A):c.726A>G (p.Val242=)
|
rs1485448690
|
0.00001
|
NM_005670.4(EPM2A):c.744G>A (p.Ala248=)
|
rs538717552
|
0.00001
|
NM_005670.4(EPM2A):c.774G>A (p.Lys258=)
|
rs1014840416
|
0.00001
|
NM_005670.4(EPM2A):c.813C>T (p.Gly271=)
|
rs1162902926
|
0.00001
|
NM_005670.4(EPM2A):c.822C>T (p.Thr274=)
|
rs763812238
|
0.00001
|
NM_005670.4(EPM2A):c.834C>T (p.Cys278=)
|
rs759427349
|
0.00001
|
NM_005670.4(EPM2A):c.927C>G (p.Ala309=)
|
rs1181128980
|
0.00001
|
NM_015973.5(GAL):c.147C>G (p.Gly49=)
|
rs1238139750
|
0.00001
|
NM_015973.5(GAL):c.309T>A (p.Gly103=)
|
rs768790714
|
0.00001
|
NM_018100.4(EFHC1):c.1047A>G (p.Pro349=)
|
rs1163603161
|
0.00001
|
NM_018100.4(EFHC1):c.1059G>A (p.Arg353=)
|
rs200024100
|
0.00001
|
NM_018100.4(EFHC1):c.1104T>C (p.Asp368=)
|
rs754355317
|
0.00001
|
NM_018100.4(EFHC1):c.1138-10G>A
|
rs764297951
|
0.00001
|
NM_018100.4(EFHC1):c.1278+10A>G
|
rs1765388049
|
0.00001
|
NM_018100.4(EFHC1):c.1279-8C>G
|
rs751569889
|
0.00001
|
NM_018100.4(EFHC1):c.1449C>G (p.Val483=)
|
rs999038193
|
0.00001
|
NM_018100.4(EFHC1):c.144C>T (p.Gly48=)
|
rs372240827
|
0.00001
|
NM_018100.4(EFHC1):c.15C>T (p.Pro5=)
|
rs1339961633
|
0.00001
|
NM_018100.4(EFHC1):c.160T>C (p.Phe54Leu)
|
rs370815762
|
0.00001
|
NM_018100.4(EFHC1):c.1620G>A (p.Ala540=)
|
rs773438652
|
0.00001
|
NM_018100.4(EFHC1):c.1640+19G>C
|
rs1303813611
|
0.00001
|
NM_018100.4(EFHC1):c.1641-8C>A
|
rs1222704866
|
0.00001
|
NM_018100.4(EFHC1):c.1667T>C (p.Val556Ala)
|
rs543750772
|
0.00001
|
NM_018100.4(EFHC1):c.22G>C (p.Gly8Arg)
|
rs200510672
|
0.00001
|
NM_018100.4(EFHC1):c.249G>A (p.Ala83=)
|
rs149627167
|
0.00001
|
NM_018100.4(EFHC1):c.288A>G (p.Val96=)
|
rs1029149593
|
0.00001
|
NM_018100.4(EFHC1):c.333T>C (p.Thr111=)
|
rs371542229
|
0.00001
|
NM_018100.4(EFHC1):c.339A>G (p.Glu113=)
|
rs774056218
|
0.00001
|
NM_018100.4(EFHC1):c.639T>C (p.Thr213=)
|
rs1249877509
|
0.00001
|
NM_018100.4(EFHC1):c.681A>G (p.Ser227=)
|
rs772096798
|
0.00001
|
NM_018100.4(EFHC1):c.69A>T (p.Thr23=)
|
rs746911392
|
0.00001
|
NM_018100.4(EFHC1):c.702A>G (p.Gln234=)
|
rs1359654256
|
0.00001
|
NM_018100.4(EFHC1):c.789C>T (p.Ile263=)
|
rs148936911
|
0.00001
|
NM_018100.4(EFHC1):c.838G>A (p.Glu280Lys)
|
rs553105915
|
0.00001
|
NM_018100.4(EFHC1):c.917-7A>C
|
rs1266698847
|
0.00001
|
NM_018100.4(EFHC1):c.961T>C (p.Leu321=)
|
rs751733899
|
0.00001
|
NM_020822.3(KCNT1):c.10C>T (p.Pro4Ser)
|
rs778405770
|
0.00001
|
NM_020822.3(KCNT1):c.110+9T>A
|
rs761910853
|
0.00001
|
NM_020822.3(KCNT1):c.1101T>A (p.Arg367=)
|
rs553751644
|
0.00001
|
NM_020822.3(KCNT1):c.1113G>A (p.Glu371=)
|
rs1217096141
|
0.00001
|
NM_020822.3(KCNT1):c.1167C>T (p.Phe389=)
|
rs868420087
|
0.00001
|
NM_020822.3(KCNT1):c.1176G>A (p.Glu392=)
|
rs149085499
|
0.00001
|
NM_020822.3(KCNT1):c.1200+16G>A
|
rs542132567
|
0.00001
|
NM_020822.3(KCNT1):c.1200+7C>T
|
rs1291798500
|
0.00001
|
NM_020822.3(KCNT1):c.1209C>T (p.Tyr403=)
|
rs374653926
|
0.00001
|
NM_020822.3(KCNT1):c.1337+17G>A
|
rs780243563
|
0.00001
|
NM_020822.3(KCNT1):c.1337+19A>G
|
rs1373490805
|
0.00001
|
NM_020822.3(KCNT1):c.1347T>C (p.Asn449=)
|
rs1383981222
|
0.00001
|
NM_020822.3(KCNT1):c.1356C>G (p.Ala452=)
|
rs138306663
|
0.00001
|
NM_020822.3(KCNT1):c.1365C>T (p.Ile455=)
|
rs1305510057
|
0.00001
|
NM_020822.3(KCNT1):c.1380C>T (p.Asn460=)
|
rs566700584
|
0.00001
|
NM_020822.3(KCNT1):c.1401+9G>A
|
rs1260793909
|
0.00001
|
NM_020822.3(KCNT1):c.1402-8C>T
|
rs1303785635
|
0.00001
|
NM_020822.3(KCNT1):c.1464C>T (p.Tyr488=)
|
rs375585422
|
0.00001
|
NM_020822.3(KCNT1):c.1476C>T (p.Leu492=)
|
rs756062584
|
0.00001
|
NM_020822.3(KCNT1):c.1511-5C>T
|
rs546333402
|
0.00001
|
NM_020822.3(KCNT1):c.1521G>A (p.Val507=)
|
rs759337224
|
0.00001
|
NM_020822.3(KCNT1):c.1524T>C (p.Cys508=)
|
rs1328119218
|
0.00001
|
NM_020822.3(KCNT1):c.1572G>A (p.Pro524=)
|
rs113333501
|
0.00001
|
NM_020822.3(KCNT1):c.1575G>A (p.Ala525=)
|
rs566045604
|
0.00001
|
NM_020822.3(KCNT1):c.1605C>T (p.His535=)
|
rs1339025046
|
0.00001
|
NM_020822.3(KCNT1):c.1608G>A (p.Thr536=)
|
rs768778333
|
0.00001
|
NM_020822.3(KCNT1):c.1620-13C>T
|
rs1255165614
|
0.00001
|
NM_020822.3(KCNT1):c.1671C>T (p.Ser557=)
|
rs772929290
|
0.00001
|
NM_020822.3(KCNT1):c.1700G>T (p.Gly567Val)
|
rs781375160
|
0.00001
|
NM_020822.3(KCNT1):c.1746C>T (p.Tyr582=)
|
rs763438119
|
0.00001
|
NM_020822.3(KCNT1):c.1769+9G>A
|
rs758402819
|
0.00001
|
NM_020822.3(KCNT1):c.1770-14G>A
|
rs756948128
|
0.00001
|
NM_020822.3(KCNT1):c.1770-4C>G
|
rs1422786351
|
0.00001
|
NM_020822.3(KCNT1):c.1812G>A (p.Lys604=)
|
rs754003723
|
0.00001
|
NM_020822.3(KCNT1):c.1851C>T (p.Ala617=)
|
rs1275903338
|
0.00001
|
NM_020822.3(KCNT1):c.1867T>C (p.Phe623Leu)
|
rs1392866875
|
0.00001
|
NM_020822.3(KCNT1):c.1887G>A (p.Lys629=)
|
rs531712032
|
0.00001
|
NM_020822.3(KCNT1):c.1905C>T (p.Phe635=)
|
rs1455339615
|
0.00001
|
NM_020822.3(KCNT1):c.1938G>T (p.Arg646Ser)
|
rs753543470
|
0.00001
|
NM_020822.3(KCNT1):c.1952A>G (p.Gln651Arg)
|
rs1022928641
|
0.00001
|
NM_020822.3(KCNT1):c.1963G>A (p.Glu655Lys)
|
rs770039542
|
0.00001
|
NM_020822.3(KCNT1):c.1970C>T (p.Pro657Leu)
|
rs566157365
|
0.00001
|
NM_020822.3(KCNT1):c.1971G>A (p.Pro657=)
|
rs773072248
|
0.00001
|
NM_020822.3(KCNT1):c.1988A>G (p.His663Arg)
|
rs1285595185
|
0.00001
|
NM_020822.3(KCNT1):c.1992C>T (p.Ser664=)
|
rs558095270
|
0.00001
|
NM_020822.3(KCNT1):c.1998C>T (p.Ile666=)
|
rs368777569
|
0.00001
|
NM_020822.3(KCNT1):c.2005A>G (p.Met669Val)
|
rs576552962
|
0.00001
|
NM_020822.3(KCNT1):c.2008+11A>G
|
rs762508818
|
0.00001
|
NM_020822.3(KCNT1):c.2009-9C>G
|
rs1832837736
|
0.00001
|
NM_020822.3(KCNT1):c.2028G>T (p.Leu676=)
|
rs1010117716
|
0.00001
|
NM_020822.3(KCNT1):c.2048C>A (p.Pro683His)
|
rs1411700632
|
0.00001
|
NM_020822.3(KCNT1):c.2049T>C (p.Pro683=)
|
rs1234688449
|
0.00001
|
NM_020822.3(KCNT1):c.2059G>A (p.Gly687Ser)
|
rs1156662870
|
0.00001
|
NM_020822.3(KCNT1):c.2061C>T (p.Gly687=)
|
rs748229745
|
0.00001
|
NM_020822.3(KCNT1):c.2062G>A (p.Gly688Ser)
|
rs570983410
|
0.00001
|
NM_020822.3(KCNT1):c.2103C>T (p.Asn701=)
|
rs375289689
|
0.00001
|
NM_020822.3(KCNT1):c.2133G>A (p.Ala711=)
|
rs755266973
|
0.00001
|
NM_020822.3(KCNT1):c.2196G>A (p.Ser732=)
|
rs557680361
|
0.00001
|
NM_020822.3(KCNT1):c.220C>A (p.Leu74Met)
|
rs943048769
|
0.00001
|
NM_020822.3(KCNT1):c.222G>T (p.Leu74=)
|
rs573574312
|
0.00001
|
NM_020822.3(KCNT1):c.2244-10C>T
|
rs758069398
|
0.00001
|
NM_020822.3(KCNT1):c.2244-17C>T
|
rs1024730518
|
0.00001
|
NM_020822.3(KCNT1):c.2244-5C>T
|
rs746682785
|
0.00001
|
NM_020822.3(KCNT1):c.2244G>C (p.Glu748Asp)
|
rs1333549995
|
0.00001
|
NM_020822.3(KCNT1):c.2265C>T (p.Pro755=)
|
rs1263083880
|
0.00001
|
NM_020822.3(KCNT1):c.2295C>T (p.Thr765=)
|
rs765278495
|
0.00001
|
NM_020822.3(KCNT1):c.22C>G (p.Arg8Gly)
|
rs747457929
|
0.00001
|
NM_020822.3(KCNT1):c.2350-3C>T
|
rs776607977
|
0.00001
|
NM_020822.3(KCNT1):c.2350-5C>T
|
rs965133345
|
0.00001
|
NM_020822.3(KCNT1):c.2409C>T (p.Ile803=)
|
rs557969167
|
0.00001
|
NM_020822.3(KCNT1):c.2412C>T (p.Ile804=)
|
rs559452456
|
0.00001
|
NM_020822.3(KCNT1):c.2421A>G (p.Ala807=)
|
rs765974520
|
0.00001
|
NM_020822.3(KCNT1):c.2522+13G>A
|
rs41310951
|
0.00001
|
NM_020822.3(KCNT1):c.2522+14G>A
|
rs947043112
|
0.00001
|
NM_020822.3(KCNT1):c.2523-13G>A
|
rs770824523
|
0.00001
|
NM_020822.3(KCNT1):c.2538C>T (p.Phe846=)
|
rs1251104570
|
0.00001
|
NM_020822.3(KCNT1):c.254+15C>G
|
rs1341686028
|
0.00001
|
NM_020822.3(KCNT1):c.255-12C>G
|
rs778749299
|
0.00001
|
NM_020822.3(KCNT1):c.255-4T>A
|
rs1564343924
|
0.00001
|
NM_020822.3(KCNT1):c.2559C>T (p.Phe853=)
|
rs1166992644
|
0.00001
|
NM_020822.3(KCNT1):c.2568C>T (p.Val856=)
|
rs1554777911
|
0.00001
|
NM_020822.3(KCNT1):c.2589G>A (p.Val863=)
|
rs558135119
|
0.00001
|
NM_020822.3(KCNT1):c.2594+14G>A
|
rs750707802
|
0.00001
|
NM_020822.3(KCNT1):c.2594+6G>A
|
rs973179248
|
0.00001
|
NM_020822.3(KCNT1):c.2595-15C>T
|
rs1190489711
|
0.00001
|
NM_020822.3(KCNT1):c.261G>A (p.Gln87=)
|
rs777687658
|
0.00001
|
NM_020822.3(KCNT1):c.2640G>C (p.Leu880=)
|
rs773647691
|
0.00001
|
NM_020822.3(KCNT1):c.2694C>T (p.Asp898=)
|
rs369904278
|
0.00001
|
NM_020822.3(KCNT1):c.2715G>A (p.Val905=)
|
rs771377696
|
0.00001
|
NM_020822.3(KCNT1):c.2729+15C>T
|
rs200624821
|
0.00001
|
NM_020822.3(KCNT1):c.2799C>T (p.Arg933=)
|
rs551148089
|
0.00001
|
NM_020822.3(KCNT1):c.2814C>T (p.Tyr938=)
|
rs767742382
|
0.00001
|
NM_020822.3(KCNT1):c.285C>T (p.Asn95=)
|
rs558966732
|
0.00001
|
NM_020822.3(KCNT1):c.2865C>T (p.Asn955=)
|
rs142596339
|
0.00001
|
NM_020822.3(KCNT1):c.2904C>T (p.Arg968=)
|
rs986294962
|
0.00001
|
NM_020822.3(KCNT1):c.2943+14C>T
|
rs562923809
|
0.00001
|
NM_020822.3(KCNT1):c.2944-14C>G
|
rs1387209716
|
0.00001
|
NM_020822.3(KCNT1):c.2997C>T (p.Asp999=)
|
rs771951768
|
0.00001
|
NM_020822.3(KCNT1):c.3000C>T (p.Thr1000=)
|
rs1209287528
|
0.00001
|
NM_020822.3(KCNT1):c.300G>A (p.Arg100=)
|
rs762249620
|
0.00001
|
NM_020822.3(KCNT1):c.3012G>A (p.Ser1004=)
|
rs751965012
|
0.00001
|
NM_020822.3(KCNT1):c.3027+19G>A
|
rs778490327
|
0.00001
|
NM_020822.3(KCNT1):c.3028-16G>A
|
rs1236949709
|
0.00001
|
NM_020822.3(KCNT1):c.3048C>T (p.Asp1016=)
|
rs748942066
|
0.00001
|
NM_020822.3(KCNT1):c.3096C>T (p.Ser1032=)
|
rs1360446142
|
0.00001
|
NM_020822.3(KCNT1):c.3099C>T (p.Ser1033=)
|
rs377554985
|
0.00001
|
NM_020822.3(KCNT1):c.3105G>A (p.Glu1035=)
|
rs1833915179
|
0.00001
|
NM_020822.3(KCNT1):c.3108C>A (p.Ile1036=)
|
rs370878235
|
0.00001
|
NM_020822.3(KCNT1):c.3147C>T (p.Ser1049=)
|
rs765432746
|
0.00001
|
NM_020822.3(KCNT1):c.3177+16G>A
|
rs749539780
|
0.00001
|
NM_020822.3(KCNT1):c.3177+9C>T
|
rs781750496
|
0.00001
|
NM_020822.3(KCNT1):c.3195C>T (p.Asn1065=)
|
rs747248633
|
0.00001
|
NM_020822.3(KCNT1):c.3231G>A (p.Gly1077=)
|
rs375957383
|
0.00001
|
NM_020822.3(KCNT1):c.3241T>C (p.Ser1081Pro)
|
rs1312042895
|
0.00001
|
NM_020822.3(KCNT1):c.3282G>A (p.Thr1094=)
|
rs754919919
|
0.00001
|
NM_020822.3(KCNT1):c.3319C>T (p.Arg1107Cys)
|
rs750627411
|
0.00001
|
NM_020822.3(KCNT1):c.3360G>A (p.Ala1120=)
|
rs768977873
|
0.00001
|
NM_020822.3(KCNT1):c.3400A>G (p.Ser1134Gly)
|
rs1332070255
|
0.00001
|
NM_020822.3(KCNT1):c.3435G>A (p.Glu1145=)
|
rs1373486252
|
0.00001
|
NM_020822.3(KCNT1):c.3483G>T (p.Gly1161=)
|
rs371640443
|
0.00001
|
NM_020822.3(KCNT1):c.3502+13G>A
|
rs769937688
|
0.00001
|
NM_020822.3(KCNT1):c.3503-15C>T
|
rs373596158
|
0.00001
|
NM_020822.3(KCNT1):c.3503-16G>C
|
rs1343359299
|
0.00001
|
NM_020822.3(KCNT1):c.3554C>T (p.Pro1185Leu)
|
rs544495873
|
0.00001
|
NM_020822.3(KCNT1):c.3561C>T (p.Asp1187=)
|
rs773695396
|
0.00001
|
NM_020822.3(KCNT1):c.3564G>A (p.Thr1188=)
|
rs530040739
|
0.00001
|
NM_020822.3(KCNT1):c.3582C>T (p.Asp1194=)
|
rs1375394882
|
0.00001
|
NM_020822.3(KCNT1):c.3587+14G>A
|
rs765545901
|
0.00001
|
NM_020822.3(KCNT1):c.3588-3C>T
|
rs1222157071
|
0.00001
|
NM_020822.3(KCNT1):c.3588-5C>T
|
rs765277880
|
0.00001
|
NM_020822.3(KCNT1):c.3618C>T (p.His1206=)
|
rs577378740
|
0.00001
|
NM_020822.3(KCNT1):c.3619G>A (p.Val1207Met)
|
rs766339368
|
0.00001
|
NM_020822.3(KCNT1):c.3632C>G (p.Ser1211Cys)
|
rs752729337
|
0.00001
|
NM_020822.3(KCNT1):c.3664C>T (p.Leu1222=)
|
rs755694160
|
0.00001
|
NM_020822.3(KCNT1):c.3693C>T (p.Asp1231=)
|
rs758617654
|
0.00001
|
NM_020822.3(KCNT1):c.41G>C (p.Cys14Ser)
|
rs750374521
|
0.00001
|
NM_020822.3(KCNT1):c.429C>T (p.Ile143=)
|
rs767429133
|
0.00001
|
NM_020822.3(KCNT1):c.430G>A (p.Gly144Arg)
|
rs1157678641
|
0.00001
|
NM_020822.3(KCNT1):c.434+13C>T
|
rs748845591
|
0.00001
|
NM_020822.3(KCNT1):c.434+19C>T
|
rs772750955
|
0.00001
|
NM_020822.3(KCNT1):c.434+20G>A
|
rs773820998
|
0.00001
|
NM_020822.3(KCNT1):c.435-6C>T
|
rs370235990
|
0.00001
|
NM_020822.3(KCNT1):c.462C>T (p.Ser154=)
|
rs1298529710
|
0.00001
|
NM_020822.3(KCNT1):c.47A>T (p.Glu16Val)
|
rs755980218
|
0.00001
|
NM_020822.3(KCNT1):c.481G>A (p.Glu161Lys)
|
rs770108075
|
0.00001
|
NM_020822.3(KCNT1):c.4C>G (p.Pro2Ala)
|
rs748898708
|
0.00001
|
NM_020822.3(KCNT1):c.502C>T (p.Leu168=)
|
rs1175336277
|
0.00001
|
NM_020822.3(KCNT1):c.50C>T (p.Ala17Val)
|
rs377687237
|
0.00001
|
NM_020822.3(KCNT1):c.546C>T (p.Ile182=)
|
rs778118549
|
0.00001
|
NM_020822.3(KCNT1):c.55G>A (p.Gly19Ser)
|
rs778657830
|
0.00001
|
NM_020822.3(KCNT1):c.567G>A (p.Leu189=)
|
rs372998864
|
0.00001
|
NM_020822.3(KCNT1):c.601-17C>A
|
rs1242080755
|
0.00001
|
NM_020822.3(KCNT1):c.601-4C>G
|
rs752516170
|
0.00001
|
NM_020822.3(KCNT1):c.636C>T (p.Phe212=)
|
rs769137731
|
0.00001
|
NM_020822.3(KCNT1):c.642G>A (p.Leu214=)
|
rs749747344
|
0.00001
|
NM_020822.3(KCNT1):c.645G>A (p.Glu215=)
|
rs1233969286
|
0.00001
|
NM_020822.3(KCNT1):c.65A>G (p.Tyr22Cys)
|
rs551930493
|
0.00001
|
NM_020822.3(KCNT1):c.675+10C>T
|
rs1045068086
|
0.00001
|
NM_020822.3(KCNT1):c.687G>A (p.Pro229=)
|
rs748796809
|
0.00001
|
NM_020822.3(KCNT1):c.741C>T (p.His247=)
|
rs1218041775
|
0.00001
|
NM_020822.3(KCNT1):c.759+11G>A
|
rs1376011545
|
0.00001
|
NM_020822.3(KCNT1):c.759+8G>A
|
rs370804021
|
0.00001
|
NM_020822.3(KCNT1):c.765C>T (p.Asp255=)
|
rs1167927802
|
0.00001
|
NM_020822.3(KCNT1):c.777C>T (p.Ala259=)
|
rs759317415
|
0.00001
|
NM_020822.3(KCNT1):c.804C>T (p.Phe268=)
|
rs138371302
|
0.00001
|
NM_020822.3(KCNT1):c.81C>T (p.Phe27=)
|
rs761869915
|
0.00001
|
NM_020822.3(KCNT1):c.835C>T (p.Leu279=)
|
rs1187706487
|
0.00001
|
NM_020822.3(KCNT1):c.854+19T>G
|
rs762382117
|
0.00001
|
NM_020822.3(KCNT1):c.855-12C>T
|
rs1042693872
|
0.00001
|
NM_020822.3(KCNT1):c.861C>T (p.Cys287=)
|
rs750884338
|
0.00001
|
NM_020822.3(KCNT1):c.882G>A (p.Arg294=)
|
rs755272136
|
0.00001
|
NM_020822.3(KCNT1):c.903C>T (p.Leu301=)
|
rs1588330751
|
0.00001
|
NM_020822.3(KCNT1):c.90C>T (p.Asp30=)
|
rs1385683784
|
0.00001
|
NM_021267.5(CERS1):c.1008C>T (p.Ala336=)
|
rs371463042
|
0.00001
|
NM_021267.5(CERS1):c.1011-4C>T
|
rs2055951287
|
0.00001
|
NM_021267.5(CERS1):c.1032G>A (p.Leu344=)
|
rs1015891977
|
0.00001
|
NM_021267.5(CERS1):c.180G>A (p.Leu60=)
|
rs1231005112
|
0.00001
|
NM_021267.5(CERS1):c.252C>T (p.Pro84=)
|
rs765754803
|
0.00001
|
NM_021267.5(CERS1):c.273C>G (p.Leu91=)
|
rs768644742
|
0.00001
|
NM_021267.5(CERS1):c.306C>T (p.Ser102=)
|
rs779359438
|
0.00001
|
NM_021267.5(CERS1):c.432G>A (p.Val144=)
|
rs1243530086
|
0.00001
|
NM_021267.5(CERS1):c.477T>C (p.Tyr159=)
|
rs1426719277
|
0.00001
|
NM_021267.5(CERS1):c.498G>A (p.Thr166=)
|
rs777172267
|
0.00001
|
NM_021267.5(CERS1):c.522G>A (p.Lys174=)
|
rs778674727
|
0.00001
|
NM_021267.5(CERS1):c.528G>A (p.Ser176=)
|
rs756017318
|
0.00001
|
NM_021267.5(CERS1):c.558T>C (p.Thr186=)
|
rs370638755
|
0.00001
|
NM_021267.5(CERS1):c.590+15G>A
|
rs760913694
|
0.00001
|
NM_021267.5(CERS1):c.591-15C>G
|
rs780029381
|
0.00001
|
NM_021267.5(CERS1):c.627C>T (p.His209=)
|
rs774025010
|
0.00001
|
NM_021267.5(CERS1):c.684C>T (p.Arg228=)
|
rs761091051
|
0.00001
|
NM_021267.5(CERS1):c.732C>T (p.Cys244=)
|
rs774860884
|
0.00001
|
NM_021267.5(CERS1):c.780G>A (p.Pro260=)
|
rs765999204
|
0.00001
|
NM_021267.5(CERS1):c.798C>T (p.Ala266=)
|
rs978085666
|
0.00001
|
NM_021267.5(CERS1):c.900+8G>A
|
rs768626142
|
0.00001
|
NM_021267.5(CERS1):c.901-4G>A
|
rs755673028
|
0.00001
|
NM_021267.5(CERS1):c.901-6T>A
|
rs1470403378
|
0.00001
|
NM_021267.5(CERS1):c.906C>T (p.Ile302=)
|
rs377364343
|
0.00001
|
NM_021267.5(CERS1):c.945C>T (p.His315=)
|
rs767643146
|
0.00001
|
NM_032737.4(LMNB2):c.1012C>A (p.Leu338Met)
|
rs1467066751
|
0.00001
|
NM_032737.4(LMNB2):c.1057C>A (p.Leu353Met)
|
rs754149098
|
0.00001
|
NM_032737.4(LMNB2):c.1062C>T (p.Asp354=)
|
rs1452537561
|
0.00001
|
NM_032737.4(LMNB2):c.1083G>A (p.Thr361=)
|
rs775608708
|
0.00001
|
NM_032737.4(LMNB2):c.111G>A (p.Ser37=)
|
rs770940136
|
0.00001
|
NM_032737.4(LMNB2):c.1202+4C>T
|
rs756666958
|
0.00001
|
NM_032737.4(LMNB2):c.1203-16C>T
|
rs1248711726
|
0.00001
|
NM_032737.4(LMNB2):c.1203-17C>G
|
rs1437274132
|
0.00001
|
NM_032737.4(LMNB2):c.1204C>T (p.Leu402=)
|
rs1368043767
|
0.00001
|
NM_032737.4(LMNB2):c.1248A>G (p.Arg416=)
|
rs1168297824
|
0.00001
|
NM_032737.4(LMNB2):c.1350C>T (p.Ser450=)
|
rs765785713
|
0.00001
|
NM_032737.4(LMNB2):c.1482+12G>C
|
rs753579762
|
0.00001
|
NM_032737.4(LMNB2):c.1607C>T (p.Ala536Val)
|
rs754150999
|
0.00001
|
NM_032737.4(LMNB2):c.1623C>T (p.Ser541=)
|
rs767477477
|
0.00001
|
NM_032737.4(LMNB2):c.1708G>A (p.Glu570Lys)
|
rs149924406
|
0.00001
|
NM_032737.4(LMNB2):c.1711-6G>A
|
rs371087181
|
0.00001
|
NM_032737.4(LMNB2):c.1788C>T (p.Ala596=)
|
rs749318036
|
0.00001
|
NM_032737.4(LMNB2):c.1793T>C (p.Phe598Ser)
|
rs1353877908
|
0.00001
|
NM_032737.4(LMNB2):c.1797C>T (p.Gly599=)
|
rs759889339
|
0.00001
|
NM_032737.4(LMNB2):c.1821+13T>C
|
rs1344139430
|
0.00001
|
NM_032737.4(LMNB2):c.1842A>G (p.Ser614=)
|
rs1249699732
|
0.00001
|
NM_032737.4(LMNB2):c.204G>A (p.Glu68=)
|
rs1315446005
|
0.00001
|
NM_032737.4(LMNB2):c.222C>T (p.Leu74=)
|
rs764843602
|
0.00001
|
NM_032737.4(LMNB2):c.22C>T (p.Arg8Cys)
|
rs1972098419
|
0.00001
|
NM_032737.4(LMNB2):c.252G>C (p.Val84=)
|
rs1972094753
|
0.00001
|
NM_032737.4(LMNB2):c.25C>T (p.Arg9Cys)
|
rs1356241087
|
0.00001
|
NM_032737.4(LMNB2):c.273C>T (p.Gly91=)
|
rs1163719792
|
0.00001
|
NM_032737.4(LMNB2):c.342T>C (p.Arg114=)
|
rs771838704
|
0.00001
|
NM_032737.4(LMNB2):c.381G>A (p.Glu127=)
|
rs770742412
|
0.00001
|
NM_032737.4(LMNB2):c.387C>T (p.Asp129=)
|
rs368379275
|
0.00001
|
NM_032737.4(LMNB2):c.511C>T (p.Arg171Cys)
|
rs559301030
|
0.00001
|
NM_032737.4(LMNB2):c.513C>T (p.Arg171=)
|
rs767989080
|
0.00001
|
NM_032737.4(LMNB2):c.529G>A (p.Val177Met)
|
rs200404213
|
0.00001
|
NM_032737.4(LMNB2):c.558+18C>T
|
rs758599561
|
0.00001
|
NM_032737.4(LMNB2):c.567C>T (p.Asp189=)
|
rs946993329
|
0.00001
|
NM_032737.4(LMNB2):c.597G>A (p.Glu199=)
|
rs186368809
|
0.00001
|
NM_032737.4(LMNB2):c.618G>A (p.Val206=)
|
rs774098624
|
0.00001
|
NM_032737.4(LMNB2):c.685-4G>A
|
rs748128658
|
0.00001
|
NM_032737.4(LMNB2):c.711C>T (p.His237=)
|
rs763106148
|
0.00001
|
NM_032737.4(LMNB2):c.729G>A (p.Glu243=)
|
rs745334996
|
0.00001
|
NM_032737.4(LMNB2):c.807G>C (p.Glu269Asp)
|
rs369384125
|
0.00001
|
NM_032737.4(LMNB2):c.856-10C>T
|
rs751305991
|
0.00001
|
NM_032737.4(LMNB2):c.856-17C>T
|
rs777712102
|
0.00001
|
NM_032737.4(LMNB2):c.864C>T (p.Ser288=)
|
rs1440075723
|
0.00001
|
NM_032737.4(LMNB2):c.981+15G>A
|
rs1287788426
|
0.00001
|
NM_153026.3(PRICKLE1):c.1107C>T (p.Asp369=)
|
rs1285254189
|
0.00001
|
NM_153026.3(PRICKLE1):c.1284T>C (p.Phe428=)
|
rs183742526
|
0.00001
|
NM_153026.3(PRICKLE1):c.1341C>T (p.Asn447=)
|
rs759563559
|
0.00001
|
NM_153026.3(PRICKLE1):c.1449T>C (p.Ser483=)
|
rs760731193
|
0.00001
|
NM_153026.3(PRICKLE1):c.1497A>G (p.Glu499=)
|
rs774825872
|
0.00001
|
NM_153026.3(PRICKLE1):c.1639+15G>T
|
rs778854960
|
0.00001
|
NM_153026.3(PRICKLE1):c.1640-7C>T
|
rs1555229472
|
0.00001
|
NM_153026.3(PRICKLE1):c.1770G>A (p.Arg590=)
|
rs1212454052
|
0.00001
|
NM_153026.3(PRICKLE1):c.1888C>G (p.Gln630Glu)
|
rs200171609
|
0.00001
|
NM_153026.3(PRICKLE1):c.1953G>C (p.Pro651=)
|
rs766992928
|
0.00001
|
NM_153026.3(PRICKLE1):c.1977C>T (p.Arg659=)
|
rs1405666356
|
0.00001
|
NM_153026.3(PRICKLE1):c.2178G>A (p.Gln726=)
|
rs1332245067
|
0.00001
|
NM_153026.3(PRICKLE1):c.2472G>A (p.Lys824=)
|
rs1937730741
|
0.00001
|
NM_153026.3(PRICKLE1):c.276G>A (p.Glu92=)
|
rs1555230725
|
0.00001
|
NM_153026.3(PRICKLE1):c.36G>A (p.Leu12=)
|
rs1162360044
|
0.00001
|
NM_153026.3(PRICKLE1):c.384+17C>G
|
rs752636804
|
0.00001
|
NM_153026.3(PRICKLE1):c.385-20T>G
|
rs898970641
|
0.00001
|
NM_153026.3(PRICKLE1):c.423C>T (p.Phe141=)
|
rs746728526
|
0.00001
|
NM_153026.3(PRICKLE1):c.669G>A (p.Thr223=)
|
rs201394996
|
0.00001
|
NM_153026.3(PRICKLE1):c.702C>T (p.Asp234=)
|
rs1054457480
|
0.00001
|
NM_153026.3(PRICKLE1):c.720T>C (p.Cys240=)
|
rs374695088
|
0.00001
|
NM_153026.3(PRICKLE1):c.933C>T (p.Asp311=)
|
rs1291662022
|
0.00001
|
NM_153026.3(PRICKLE1):c.939T>C (p.His313=)
|
rs1395833915
|
0.00001
|
NM_153033.5(KCTD7):c.144+19G>A
|
rs998736066
|
0.00001
|
NM_153033.5(KCTD7):c.15G>C (p.Thr5=)
|
rs1410806588
|
0.00001
|
NM_153033.5(KCTD7):c.258C>T (p.Tyr86=)
|
rs749010969
|
0.00001
|
NM_153033.5(KCTD7):c.264C>T (p.Pro88=)
|
rs985251877
|
0.00001
|
NM_153033.5(KCTD7):c.342G>A (p.Gly114=)
|
rs145152329
|
0.00001
|
NM_153033.5(KCTD7):c.402C>T (p.Ile134=)
|
rs754958440
|
0.00001
|
NM_153033.5(KCTD7):c.456G>A (p.Val152=)
|
rs796052686
|
0.00001
|
NM_153033.5(KCTD7):c.750G>A (p.Thr250=)
|
rs374256335
|
0.00001
|
NM_153033.5(KCTD7):c.774C>T (p.Thr258=)
|
rs751953589
|
0.00001
|
NM_153033.5(KCTD7):c.792C>T (p.Ile264=)
|
rs368680616
|
0.00001
|
NM_153033.5(KCTD7):c.813C>T (p.Leu271=)
|
rs766332054
|
0.00001
|
NM_153033.5(KCTD7):c.81T>C (p.Phe27=)
|
rs1007276581
|
0.00001
|
NM_153033.5(KCTD7):c.861A>G (p.Thr287=)
|
rs367591875
|
0.00001
|
NM_178013.4(PRIMA1):c.230-20G>C
|
rs777667290
|
0.00001
|
NM_178013.4(PRIMA1):c.273G>A (p.Ser91=)
|
rs751699834
|
0.00001
|
NM_178013.4(PRIMA1):c.360-4C>G
|
rs777986985
|
0.00001
|
NM_178013.4(PRIMA1):c.360-8A>G
|
rs974794864
|
0.00001
|
NM_178013.4(PRIMA1):c.93+18C>T
|
rs1353176063
|
0.00001
|
NM_178013.4(PRIMA1):c.93+8G>T
|
rs1017066997
|
0.00001
|
NM_198586.3(NHLRC1):c.1065G>A (p.Pro355=)
|
rs752799460
|
0.00001
|
NM_198586.3(NHLRC1):c.1137G>T (p.Val379=)
|
rs1179677260
|
0.00001
|
NM_198586.3(NHLRC1):c.207A>G (p.Pro69=)
|
rs778080945
|
0.00001
|
NM_198586.3(NHLRC1):c.24C>T (p.Ser8=)
|
rs763202331
|
0.00001
|
NM_198586.3(NHLRC1):c.285A>G (p.Ser95=)
|
rs1057521817
|
0.00001
|
NM_198586.3(NHLRC1):c.393A>C (p.Gly131=)
|
rs1280323559
|
0.00001
|
NM_198586.3(NHLRC1):c.528C>T (p.Tyr176=)
|
rs1403101337
|
0.00001
|
NM_198586.3(NHLRC1):c.582C>T (p.Gly194=)
|
rs1258101648
|
0.00001
|
NM_198586.3(NHLRC1):c.663G>A (p.Val221=)
|
rs374108909
|
0.00001
|
NM_198586.3(NHLRC1):c.690G>A (p.Val230=)
|
rs1245001963
|
0.00001
|
NM_198586.3(NHLRC1):c.720C>T (p.His240=)
|
rs1161999387
|
0.00001
|
NM_198586.3(NHLRC1):c.729C>T (p.Asp243=)
|
rs146420615
|
0.00001
|
NM_198586.3(NHLRC1):c.741G>A (p.Ala247=)
|
rs571973789
|
0.00001
|
NM_198586.3(NHLRC1):c.819C>T (p.Thr273=)
|
rs1220104886
|
0.00001
|
NM_198586.3(NHLRC1):c.843C>T (p.His281=)
|
rs762001530
|
0.00001
|
NM_198586.3(NHLRC1):c.882G>T (p.Val294=)
|
rs1314207581
|
0.00001
|
NC_000007.13:g.(?_66103220)_(66105401_?)dup
|
|
|
NC_000007.13:g.(?_66103230)_(66104219_?)dup
|
|
|
NC_000009.11:g.(?_138606413)_(138606576_?)del
|
|
|
NC_000016.9:g.(?_10273845)_(10274268_?)dup
|
|
|
NM_000100.4(CSTB):c.111G>A (p.Val37=)
|
|
|
NM_000100.4(CSTB):c.12G>A (p.Gly4=)
|
rs1555888494
|
|
NM_000100.4(CSTB):c.144C>T (p.Val48=)
|
|
|
NM_000100.4(CSTB):c.15G>A (p.Ala5=)
|
|
|
NM_000100.4(CSTB):c.168+19G>T
|
|
|
NM_000100.4(CSTB):c.168+7T>C
|
|
|
NM_000100.4(CSTB):c.168+8G>A
|
rs556221258
|
|
NM_000100.4(CSTB):c.169-13G>A
|
|
|
NM_000100.4(CSTB):c.207G>T (p.Val69=)
|
|
|
NM_000100.4(CSTB):c.21C>A (p.Ser7=)
|
rs748254497
|
|
NM_000100.4(CSTB):c.246A>G (p.Leu82=)
|
rs2123385440
|
|
NM_000100.4(CSTB):c.273G>A (p.Lys91=)
|
rs540215875
|
|
NM_000100.4(CSTB):c.294C>T (p.Phe98=)
|
rs2123385381
|
|
NM_000100.4(CSTB):c.33G>A (p.Pro11=)
|
rs2123387882
|
|
NM_000100.4(CSTB):c.39C>G (p.Thr13=)
|
rs1419893626
|
|
NM_000100.4(CSTB):c.42C>G (p.Ala14=)
|
rs2123387857
|
|
NM_000100.4(CSTB):c.66+10C>A
|
|
|
NM_000100.4(CSTB):c.66+11C>T
|
|
|
NM_000100.4(CSTB):c.66+14G>A
|
|
|
NM_000100.4(CSTB):c.66+15G>C
|
|
|
NM_000100.4(CSTB):c.66+20G>C
|
rs1197240747
|
|
NM_000100.4(CSTB):c.67-4C>G
|
rs2084002305
|
|
NM_000742.4(CHRNA2):c.1020C>T (p.Thr340=)
|
rs2132652084
|
|
NM_000742.4(CHRNA2):c.1029C>A (p.Ile343=)
|
|
|
NM_000742.4(CHRNA2):c.1029C>T (p.Ile343=)
|
|
|
NM_000742.4(CHRNA2):c.1038C>T (p.Thr346=)
|
rs1202844498
|
|
NM_000742.4(CHRNA2):c.1050C>T (p.Leu350=)
|
|
|
NM_000742.4(CHRNA2):c.105G>A (p.Arg35=)
|
rs1812824307
|
|
NM_000742.4(CHRNA2):c.1068C>A (p.Ser356=)
|
rs745774113
|
|
NM_000742.4(CHRNA2):c.1104G>A (p.Gly368=)
|
rs2132651658
|
|
NM_000742.4(CHRNA2):c.1122G>T (p.Val374=)
|
|
|
NM_000742.4(CHRNA2):c.1126C>T (p.Arg376Trp)
|
rs1018084204
|
|
NM_000742.4(CHRNA2):c.1155A>G (p.Pro385=)
|
|
|
NM_000742.4(CHRNA2):c.1161G>T (p.Val387=)
|
|
|
NM_000742.4(CHRNA2):c.1164G>A (p.Glu388=)
|
rs1175481996
|
|
NM_000742.4(CHRNA2):c.116A>G (p.Asp39Gly)
|
rs1812823861
|
|
NM_000742.4(CHRNA2):c.1173C>A (p.His391Gln)
|
rs183676062
|
|
NM_000742.4(CHRNA2):c.1174C>T (p.Pro392Ser)
|
rs762406891
|
|
NM_000742.4(CHRNA2):c.1188G>A (p.Lys396=)
|
rs1812566372
|
|
NM_000742.4(CHRNA2):c.1194C>T (p.Ser398=)
|
rs1586389358
|
|
NM_000742.4(CHRNA2):c.1206C>T (p.His402=)
|
rs2132651160
|
|
NM_000742.4(CHRNA2):c.1221C>T (p.Asn407=)
|
|
|
NM_000742.4(CHRNA2):c.122T>C (p.Leu41Pro)
|
rs1812823370
|
|
NM_000742.4(CHRNA2):c.1230C>T (p.Ala410=)
|
|
|
NM_000742.4(CHRNA2):c.1239G>A (p.Arg413=)
|
|
|
NM_000742.4(CHRNA2):c.1245G>C (p.Val415=)
|
rs373599393
|
|
NM_000742.4(CHRNA2):c.1248G>A (p.Val416=)
|
|
|
NM_000742.4(CHRNA2):c.1257G>A (p.Glu419=)
|
rs2132650965
|
|
NM_000742.4(CHRNA2):c.1260G>A (p.Glu420=)
|
rs1057522280
|
|
NM_000742.4(CHRNA2):c.1263C>T (p.Asp421=)
|
rs2132650909
|
|
NM_000742.4(CHRNA2):c.1292C>T (p.Pro431Leu)
|
|
|
NM_000742.4(CHRNA2):c.1301G>A (p.Gly434Asp)
|
|
|
NM_000742.4(CHRNA2):c.1303A>G (p.Thr435Ala)
|
|
|
NM_000742.4(CHRNA2):c.1304C>T (p.Thr435Ile)
|
rs1372280583
|
|
NM_000742.4(CHRNA2):c.1306C>T (p.Leu436Phe)
|
|
|
NM_000742.4(CHRNA2):c.132C>A (p.Pro44=)
|
rs1397983639
|
|
NM_000742.4(CHRNA2):c.1330T>C (p.Ser444Pro)
|
rs2132650571
|
|
NM_000742.4(CHRNA2):c.1332T>A (p.Ser444=)
|
|
|
NM_000742.4(CHRNA2):c.1346C>G (p.Pro449Arg)
|
|
|
NM_000742.4(CHRNA2):c.1364T>C (p.Leu455Pro)
|
rs1812553075
|
|
NM_000742.4(CHRNA2):c.1365G>A (p.Leu455=)
|
rs756635424
|
|
NM_000742.4(CHRNA2):c.1374T>G (p.Gly458=)
|
rs976672656
|
|
NM_000742.4(CHRNA2):c.1378C>T (p.Leu460=)
|
rs765948265
|
|
NM_000742.4(CHRNA2):c.1385T>C (p.Leu462Pro)
|
rs377612702
|
|
NM_000742.4(CHRNA2):c.1393del (p.His465fs)
|
rs1394301488
|
|
NM_000742.4(CHRNA2):c.1401G>A (p.Gln467=)
|
rs765154757
|
|
NM_000742.4(CHRNA2):c.1410G>A (p.Leu470=)
|
rs1586388697
|
|
NM_000742.4(CHRNA2):c.1441C>A (p.Arg481=)
|
|
|
NM_000742.4(CHRNA2):c.1464+12T>C
|
|
|
NM_000742.4(CHRNA2):c.1464+7T>G
|
|
|
NM_000742.4(CHRNA2):c.1465-6C>A
|
|
|
NM_000742.4(CHRNA2):c.1473G>A (p.Glu491=)
|
rs1270908053
|
|
NM_000742.4(CHRNA2):c.1482G>A (p.Lys494=)
|
|
|
NM_000742.4(CHRNA2):c.149C>G (p.Pro50Arg)
|
rs146763552
|
|
NM_000742.4(CHRNA2):c.149C>T (p.Pro50Leu)
|
rs146763552
|
|
NM_000742.4(CHRNA2):c.150G>A (p.Pro50=)
|
rs758848783
|
|
NM_000742.4(CHRNA2):c.150G>T (p.Pro50=)
|
rs758848783
|
|
NM_000742.4(CHRNA2):c.1515C>T (p.Leu505=)
|
rs2132646413
|
|
NM_000742.4(CHRNA2):c.1533C>G (p.Val511=)
|
|
|
NM_000742.4(CHRNA2):c.1539C>T (p.Phe513=)
|
|
|
NM_000742.4(CHRNA2):c.154G>A (p.Gly52Arg)
|
|
|
NM_000742.4(CHRNA2):c.1568C>A (p.Pro523Gln)
|
rs145238683
|
|
NM_000742.4(CHRNA2):c.1568C>T (p.Pro523Leu)
|
rs145238683
|
|
NM_000742.4(CHRNA2):c.15T>C (p.Cys5=)
|
|
|
NM_000742.4(CHRNA2):c.182G>C (p.Arg61Pro)
|
|
|
NM_000742.4(CHRNA2):c.198C>T (p.Leu66=)
|
rs1812818583
|
|
NM_000742.4(CHRNA2):c.203G>A (p.Arg68Gln)
|
rs548268816
|
|
NM_000742.4(CHRNA2):c.203G>C (p.Arg68Pro)
|
rs548268816
|
|
NM_000742.4(CHRNA2):c.213C>T (p.Asn71=)
|
|
|
NM_000742.4(CHRNA2):c.214C>A (p.Arg72Ser)
|
|
|
NM_000742.4(CHRNA2):c.215G>A (p.Arg72His)
|
rs201922955
|
|
NM_000742.4(CHRNA2):c.215G>C (p.Arg72Pro)
|
rs201922955
|
|
NM_000742.4(CHRNA2):c.216C>T (p.Arg72=)
|
|
|
NM_000742.4(CHRNA2):c.220G>A (p.Ala74Thr)
|
|
|
NM_000742.4(CHRNA2):c.225C>A (p.Arg75=)
|
rs371737919
|
|
NM_000742.4(CHRNA2):c.225C>T (p.Arg75=)
|
rs371737919
|
|
NM_000742.4(CHRNA2):c.245A>G (p.Asp82Gly)
|
|
|
NM_000742.4(CHRNA2):c.24C>T (p.Phe8=)
|
rs757567429
|
|
NM_000742.4(CHRNA2):c.288C>A (p.Ile96=)
|
rs561008438
|
|
NM_000742.4(CHRNA2):c.288C>G (p.Ile96Met)
|
|
|
NM_000742.4(CHRNA2):c.294+10T>C
|
rs2132666877
|
|
NM_000742.4(CHRNA2):c.294+19C>T
|
|
|
NM_000742.4(CHRNA2):c.295-19C>G
|
|
|
NM_000742.4(CHRNA2):c.295-5G>A
|
|
|
NM_000742.4(CHRNA2):c.295-8del
|
|
|
NM_000742.4(CHRNA2):c.295-9C>T
|
rs2132666030
|
|
NM_000742.4(CHRNA2):c.321C>T (p.Thr107=)
|
rs886044444
|
|
NM_000742.4(CHRNA2):c.327C>T (p.Val109=)
|
|
|
NM_000742.4(CHRNA2):c.332T>C (p.Leu111Pro)
|
|
|
NM_000742.4(CHRNA2):c.339+11C>T
|
|
|
NM_000742.4(CHRNA2):c.339+7G>A
|
rs1370162616
|
|
NM_000742.4(CHRNA2):c.339+8C>G
|
rs768490793
|
|
NM_000742.4(CHRNA2):c.340-11C>G
|
|
|
NM_000742.4(CHRNA2):c.340-18C>A
|
|
|
NM_000742.4(CHRNA2):c.340-9C>T
|
rs1278613957
|
|
NM_000742.4(CHRNA2):c.348C>A (p.Ser116Arg)
|
rs779790900
|
|
NM_000742.4(CHRNA2):c.348C>T (p.Ser116=)
|
rs779790900
|
|
NM_000742.4(CHRNA2):c.360G>A (p.Leu120=)
|
rs1586395599
|
|
NM_000742.4(CHRNA2):c.363C>G (p.Arg121=)
|
|
|
NM_000742.4(CHRNA2):c.368A>G (p.Asn123Ser)
|
rs2132661449
|
|
NM_000742.4(CHRNA2):c.372C>G (p.Pro124=)
|
|
|
NM_000742.4(CHRNA2):c.372_373inv (p.Thr125Ala)
|
|
|
NM_000742.4(CHRNA2):c.375T>C (p.Thr125=)
|
|
|
NM_000742.4(CHRNA2):c.411T>A (p.Ser137=)
|
|
|
NM_000742.4(CHRNA2):c.444C>T (p.Tyr148=)
|
|
|
NM_000742.4(CHRNA2):c.449+16G>T
|
|
|
NM_000742.4(CHRNA2):c.449+2T>C
|
rs2132661149
|
|
NM_000742.4(CHRNA2):c.449+9C>G
|
rs368584036
|
|
NM_000742.4(CHRNA2):c.450-15C>A
|
|
|
NM_000742.4(CHRNA2):c.450-9T>A
|
rs1812619727
|
|
NM_000742.4(CHRNA2):c.459G>A (p.Gly153=)
|
rs1586391704
|
|
NM_000742.4(CHRNA2):c.48G>A (p.Leu16=)
|
rs2132670415
|
|
NM_000742.4(CHRNA2):c.504G>C (p.Thr168=)
|
rs1247001566
|
|
NM_000742.4(CHRNA2):c.516C>A (p.His172Gln)
|
rs1563319114
|
|
NM_000742.4(CHRNA2):c.51G>T (p.Trp17Cys)
|
|
|
NM_000742.4(CHRNA2):c.543C>T (p.Ser181=)
|
|
|
NM_000742.4(CHRNA2):c.559G>A (p.Val187Ile)
|
|
|
NM_000742.4(CHRNA2):c.564C>T (p.Thr188=)
|
|
|
NM_000742.4(CHRNA2):c.618T>C (p.Tyr206=)
|
|
|
NM_000742.4(CHRNA2):c.621C>T (p.Asp207=)
|
rs2132654000
|
|
NM_000742.4(CHRNA2):c.633C>T (p.Ile211=)
|
|
|
NM_000742.4(CHRNA2):c.643C>A (p.Gln215Lys)
|
rs1812608078
|
|
NM_000742.4(CHRNA2):c.646A>G (p.Met216Val)
|
rs1812607837
|
|
NM_000742.4(CHRNA2):c.694G>A (p.Ala232Thr)
|
rs1226134787
|
|
NM_000742.4(CHRNA2):c.695C>A (p.Ala232Asp)
|
rs933808461
|
|
NM_000742.4(CHRNA2):c.699C>A (p.Ile233=)
|
|
|
NM_000742.4(CHRNA2):c.699C>T (p.Ile233=)
|
rs1321895505
|
|
NM_000742.4(CHRNA2):c.6C>A (p.Gly2=)
|
|
|
NM_000742.4(CHRNA2):c.711G>A (p.Thr237=)
|
|
|
NM_000742.4(CHRNA2):c.723C>T (p.Asn241=)
|
rs1060504822
|
|
NM_000742.4(CHRNA2):c.747C>G (p.Ala249=)
|
rs1040149262
|
|
NM_000742.4(CHRNA2):c.747C>T (p.Ala249=)
|
|
|
NM_000742.4(CHRNA2):c.78A>C (p.Gly26=)
|
|
|
NM_000742.4(CHRNA2):c.82G>C (p.Glu28Gln)
|
rs1812825772
|
|
NM_000742.4(CHRNA2):c.865C>T (p.Leu289=)
|
rs2132652883
|
|
NM_000742.4(CHRNA2):c.894G>C (p.Thr298=)
|
|
|
NM_000742.4(CHRNA2):c.906G>T (p.Ser302=)
|
rs151068685
|
|
NM_000742.4(CHRNA2):c.910C>T (p.Leu304=)
|
|
|
NM_000742.4(CHRNA2):c.915G>A (p.Leu305=)
|
|
|
NM_000742.4(CHRNA2):c.918A>T (p.Ser306=)
|
rs908715626
|
|
NM_000742.4(CHRNA2):c.924C>G (p.Thr308=)
|
|
|
NM_000742.4(CHRNA2):c.936G>C (p.Leu312=)
|
rs1319128623
|
|
NM_000742.4(CHRNA2):c.966G>C (p.Ser322=)
|
rs140118184
|
|
NM_000742.4(CHRNA2):c.978G>A (p.Pro326=)
|
|
|
NM_000742.4(CHRNA2):c.981C>T (p.Leu327=)
|
|
|
NM_000742.4(CHRNA2):c.98C>G (p.Pro33Arg)
|
|
|
NM_000744.7(CHRNA4):c.1002G>A (p.Ser334=)
|
rs121912263
|
|
NM_000744.7(CHRNA4):c.1011G>A (p.Thr337=)
|
|
|
NM_000744.7(CHRNA4):c.1016C>A (p.Thr339Asn)
|
rs2123471762
|
|
NM_000744.7(CHRNA4):c.1038G>A (p.Arg346=)
|
|
|
NM_000744.7(CHRNA4):c.1083G>C (p.Pro361=)
|
rs202140852
|
|
NM_000744.7(CHRNA4):c.1083G>T (p.Pro361=)
|
rs202140852
|
|
NM_000744.7(CHRNA4):c.1122C>T (p.Ser374=)
|
|
|
NM_000744.7(CHRNA4):c.112G>C (p.Glu38Gln)
|
rs1428100117
|
|
NM_000744.7(CHRNA4):c.113A>G (p.Glu38Gly)
|
rs756100070
|
|
NM_000744.7(CHRNA4):c.113A>T (p.Glu38Val)
|
rs756100070
|
|
NM_000744.7(CHRNA4):c.1146G>A (p.Pro382=)
|
rs61737377
|
|
NM_000744.7(CHRNA4):c.1158C>T (p.Pro386=)
|
rs45564639
|
|
NM_000744.7(CHRNA4):c.115C>A (p.Arg39=)
|
|
|
NM_000744.7(CHRNA4):c.1185G>A (p.Thr395=)
|
rs1448350798
|
|
NM_000744.7(CHRNA4):c.1194C>T (p.Thr398=)
|
rs752592838
|
|
NM_000744.7(CHRNA4):c.1201C>T (p.Leu401=)
|
|
|
NM_000744.7(CHRNA4):c.1209G>A (p.Pro403=)
|
rs2229959
|
|
NM_000744.7(CHRNA4):c.1216C>T (p.Pro406Ser)
|
|
|
NM_000744.7(CHRNA4):c.1221C>T (p.Ser407=)
|
rs1601473794
|
|
NM_000744.7(CHRNA4):c.1227_1228inv (p.Val410Ile)
|
|
|
NM_000744.7(CHRNA4):c.1229T>C (p.Val410Ala)
|
rs2123470999
|
|
NM_000744.7(CHRNA4):c.1230C>T (p.Val410=)
|
rs377273964
|
|
NM_000744.7(CHRNA4):c.123G>C (p.Leu41=)
|
|
|
NM_000744.7(CHRNA4):c.1245G>T (p.Pro415=)
|
|
|
NM_000744.7(CHRNA4):c.1271C>T (p.Ser424Leu)
|
|
|
NM_000744.7(CHRNA4):c.1272A>G (p.Ser424=)
|
rs1601473530
|
|
NM_000744.7(CHRNA4):c.1275C>T (p.Pro425=)
|
|
|
NM_000744.7(CHRNA4):c.1305G>A (p.Leu435=)
|
|
|
NM_000744.7(CHRNA4):c.1320C>T (p.Ala440=)
|
|
|
NM_000744.7(CHRNA4):c.1328A>C (p.His443Pro)
|
rs2123470721
|
|
NM_000744.7(CHRNA4):c.1329C>G (p.His443Gln)
|
rs2068562807
|
|
NM_000744.7(CHRNA4):c.132C>T (p.Leu44=)
|
rs1555840462
|
|
NM_000744.7(CHRNA4):c.1330C>T (p.Pro444Ser)
|
rs2123470716
|
|
NM_000744.7(CHRNA4):c.1332C>G (p.Pro444=)
|
|
|
NM_000744.7(CHRNA4):c.1380G>A (p.Leu460=)
|
rs2123470582
|
|
NM_000744.7(CHRNA4):c.1395C>A (p.Ser465=)
|
|
|
NM_000744.7(CHRNA4):c.1395C>G (p.Ser465=)
|
rs748016098
|
|
NM_000744.7(CHRNA4):c.1417A>G (p.Ser473Gly)
|
rs1555837484
|
|
NM_000744.7(CHRNA4):c.1422T>C (p.Pro474=)
|
|
|
NM_000744.7(CHRNA4):c.1431G>C (p.Ala477=)
|
|
|
NM_000744.7(CHRNA4):c.1447C>A (p.Arg483=)
|
|
|
NM_000744.7(CHRNA4):c.1449G>A (p.Arg483=)
|
|
|
NM_000744.7(CHRNA4):c.1466T>C (p.Ile489Thr)
|
rs377087067
|
|
NM_000744.7(CHRNA4):c.1466T>G (p.Ile489Ser)
|
rs377087067
|
|
NM_000744.7(CHRNA4):c.147C>T (p.Asn49=)
|
rs201484306
|
|
NM_000744.7(CHRNA4):c.1543A>C (p.Thr515Pro)
|
|
|
NM_000744.7(CHRNA4):c.1545C>T (p.Thr515=)
|
|
|
NM_000744.7(CHRNA4):c.1557G>A (p.Glu519=)
|
rs2068555737
|
|
NM_000744.7(CHRNA4):c.1563A>T (p.Pro521=)
|
|
|
NM_000744.7(CHRNA4):c.1569A>T (p.Pro523=)
|
rs2123470099
|
|
NM_000744.7(CHRNA4):c.1572C>T (p.Asp524=)
|
rs1307559644
|
|
NM_000744.7(CHRNA4):c.1582C>T (p.Pro528Ser)
|
rs1353802225
|
|
NM_000744.7(CHRNA4):c.1586G>A (p.Cys529Tyr)
|
|
|
NM_000744.7(CHRNA4):c.1596A>G (p.Thr532=)
|
rs533213338
|
|
NM_000744.7(CHRNA4):c.15C>T (p.Gly5=)
|
|
|
NM_000744.7(CHRNA4):c.1620G>A (p.Val540=)
|
|
|
NM_000744.7(CHRNA4):c.162C>G (p.Pro54=)
|
|
|
NM_000744.7(CHRNA4):c.1636G>T (p.Val546Phe)
|
rs2123469901
|
|
NM_000744.7(CHRNA4):c.1638C>G (p.Val546=)
|
|
|
NM_000744.7(CHRNA4):c.1667C>G (p.Pro556Arg)
|
rs77345643
|
|
NM_000744.7(CHRNA4):c.1667C>T (p.Pro556Leu)
|
rs77345643
|
|
NM_000744.7(CHRNA4):c.1668G>A (p.Pro556=)
|
|
|
NM_000744.7(CHRNA4):c.1668G>T (p.Pro556=)
|
rs201046333
|
|
NM_000744.7(CHRNA4):c.1678_1679del (p.Leu560fs)
|
rs1231314909
|
|
NM_000744.7(CHRNA4):c.1686G>A (p.Pro562=)
|
rs78050042
|
|
NM_000744.7(CHRNA4):c.168C>A (p.Ala56=)
|
rs2145408353
|
|
NM_000744.7(CHRNA4):c.1692G>C (p.Leu564=)
|
|
|
NM_000744.7(CHRNA4):c.1700C>T (p.Ala567Val)
|
rs76895198
|
|
NM_000744.7(CHRNA4):c.171C>T (p.Asn57=)
|
|
|
NM_000744.7(CHRNA4):c.1726G>C (p.Asp576His)
|
rs537904499
|
|
NM_000744.7(CHRNA4):c.1746C>T (p.Asp582=)
|
rs201727307
|
|
NM_000744.7(CHRNA4):c.174C>T (p.Ile58=)
|
rs2068772907
|
|
NM_000744.7(CHRNA4):c.1752C>T (p.Asp584=)
|
|
|
NM_000744.7(CHRNA4):c.1758+10G>A
|
|
|
NM_000744.7(CHRNA4):c.1758+17G>A
|
rs1281048930
|
|
NM_000744.7(CHRNA4):c.1758+8C>T
|
|
|
NM_000744.7(CHRNA4):c.1759-16G>A
|
|
|
NM_000744.7(CHRNA4):c.1759-18C>T
|
|
|
NM_000744.7(CHRNA4):c.177G>C (p.Ser59=)
|
|
|
NM_000744.7(CHRNA4):c.177G>T (p.Ser59=)
|
rs138295365
|
|
NM_000744.7(CHRNA4):c.1782G>A (p.Val594=)
|
|
|
NM_000744.7(CHRNA4):c.1803C>T (p.Ile601=)
|
rs2123463774
|
|
NM_000744.7(CHRNA4):c.180C>T (p.Asp60=)
|
|
|
NM_000744.7(CHRNA4):c.1848C>G (p.Gly616=)
|
|
|
NM_000744.7(CHRNA4):c.1855C>T (p.Leu619=)
|
|
|
NM_000744.7(CHRNA4):c.1867C>T (p.Leu623=)
|
rs878854142
|
|
NM_000744.7(CHRNA4):c.18C>G (p.Pro6=)
|
|
|
NM_000744.7(CHRNA4):c.195C>A (p.Arg65=)
|
rs2068772101
|
|
NM_000744.7(CHRNA4):c.198C>T (p.Phe66=)
|
rs201018244
|
|
NM_000744.7(CHRNA4):c.201C>A (p.Gly67=)
|
rs2068771752
|
|
NM_000744.7(CHRNA4):c.201C>T (p.Gly67=)
|
|
|
NM_000744.7(CHRNA4):c.207C>G (p.Ser69=)
|
|
|
NM_000744.7(CHRNA4):c.213T>C (p.Ala71=)
|
rs2145408224
|
|
NM_000744.7(CHRNA4):c.216G>A (p.Gln72=)
|
|
|
NM_000744.7(CHRNA4):c.219C>T (p.Leu73=)
|
rs1555840418
|
|
NM_000744.7(CHRNA4):c.21A>C (p.Gly7=)
|
|
|
NM_000744.7(CHRNA4):c.21A>G (p.Gly7=)
|
rs1406609330
|
|
NM_000744.7(CHRNA4):c.222T>C (p.Ile74=)
|
rs2145408221
|
|
NM_000744.7(CHRNA4):c.228+13G>A
|
rs45521136
|
|
NM_000744.7(CHRNA4):c.228+17C>T
|
|
|
NM_000744.7(CHRNA4):c.228+8A>T
|
|
|
NM_000744.7(CHRNA4):c.229-10G>A
|
rs776781462
|
|
NM_000744.7(CHRNA4):c.229-17C>T
|
rs2068720168
|
|
NM_000744.7(CHRNA4):c.229-5C>T
|
rs1255151217
|
|
NM_000744.7(CHRNA4):c.237G>A (p.Lys79=)
|
rs747023127
|
|
NM_000744.7(CHRNA4):c.252C>T (p.Thr84=)
|
|
|
NM_000744.7(CHRNA4):c.255G>A (p.Thr85=)
|
rs145142528
|
|
NM_000744.7(CHRNA4):c.261A>C (p.Val87=)
|
rs2145401998
|
|
NM_000744.7(CHRNA4):c.270G>A (p.Lys90=)
|
rs2145401983
|
|
NM_000744.7(CHRNA4):c.273+14C>A
|
rs2145401939
|
|
NM_000744.7(CHRNA4):c.273+9G>A
|
|
|
NM_000744.7(CHRNA4):c.274-13C>G
|
rs1057524765
|
|
NM_000744.7(CHRNA4):c.274-14C>T
|
rs2068713307
|
|
NM_000744.7(CHRNA4):c.274-16G>A
|
|
|
NM_000744.7(CHRNA4):c.274-17C>T
|
|
|
NM_000744.7(CHRNA4):c.274-19C>G
|
rs2145401105
|
|
NM_000744.7(CHRNA4):c.274-20C>T
|
|
|
NM_000744.7(CHRNA4):c.274-9C>T
|
rs765669522
|
|
NM_000744.7(CHRNA4):c.27G>A (p.Pro9=)
|
|
|
NM_000744.7(CHRNA4):c.315T>C (p.Tyr105=)
|
|
|
NM_000744.7(CHRNA4):c.33G>C (p.Leu11=)
|
|
|
NM_000744.7(CHRNA4):c.358C>A (p.Arg120=)
|
rs200010568
|
|
NM_000744.7(CHRNA4):c.363G>A (p.Pro121=)
|
rs149936966
|
|
NM_000744.7(CHRNA4):c.363G>C (p.Pro121=)
|
rs149936966
|
|
NM_000744.7(CHRNA4):c.366C>T (p.Asp122=)
|
|
|
NM_000744.7(CHRNA4):c.369C>T (p.Ile123=)
|
rs1334588457
|
|
NM_000744.7(CHRNA4):c.36G>A (p.Leu12=)
|
rs1039600168
|
|
NM_000744.7(CHRNA4):c.383+14A>G
|
|
|
NM_000744.7(CHRNA4):c.383+16C>T
|
rs1211345378
|
|
NM_000744.7(CHRNA4):c.384-15T>G
|
|
|
NM_000744.7(CHRNA4):c.384-5C>T
|
|
|
NM_000744.7(CHRNA4):c.384-7T>C
|
|
|
NM_000744.7(CHRNA4):c.38C>T (p.Pro13Leu)
|
|
|
NM_000744.7(CHRNA4):c.38_49dup (p.Pro13_Leu16dup)
|
rs1064794327
|
|
NM_000744.7(CHRNA4):c.38_52dup (p.Pro13_Leu17dup)
|
rs771936944
|
|
NM_000744.7(CHRNA4):c.39G>A (p.Pro13=)
|
rs1158391765
|
|
NM_000744.7(CHRNA4):c.405C>A (p.Val135=)
|
|
|
NM_000744.7(CHRNA4):c.41C>T (p.Pro14Leu)
|
rs761934698
|
|
NM_000744.7(CHRNA4):c.42G>C (p.Pro14=)
|
|
|
NM_000744.7(CHRNA4):c.42G>T (p.Pro14=)
|
rs565990502
|
|
NM_000744.7(CHRNA4):c.435T>C (p.His145=)
|
rs199915426
|
|
NM_000744.7(CHRNA4):c.437A>G (p.Asp146Gly)
|
rs2068588643
|
|
NM_000744.7(CHRNA4):c.441G>A (p.Gly147=)
|
rs2123473322
|
|
NM_000744.7(CHRNA4):c.447G>T (p.Val149=)
|
rs2068588322
|
|
NM_000744.7(CHRNA4):c.471C>T (p.Tyr157=)
|
|
|
NM_000744.7(CHRNA4):c.477C>T (p.Ser159=)
|
rs2068587734
|
|
NM_000744.7(CHRNA4):c.489C>T (p.Ile163=)
|
rs61734382
|
|
NM_000744.7(CHRNA4):c.516G>A (p.Gln172=)
|
rs141909279
|
|
NM_000744.7(CHRNA4):c.51G>C (p.Leu17=)
|
rs79739740
|
|
NM_000744.7(CHRNA4):c.555C>T (p.Asp185=)
|
rs2123473061
|
|
NM_000744.7(CHRNA4):c.576G>A (p.Val192=)
|
|
|
NM_000744.7(CHRNA4):c.581T>C (p.Met194Thr)
|
rs2068585706
|
|
NM_000744.7(CHRNA4):c.588C>T (p.Ser196=)
|
rs2123472979
|
|
NM_000744.7(CHRNA4):c.597C>A (p.Asp199Glu)
|
rs376632839
|
|
NM_000744.7(CHRNA4):c.598C>G (p.Gln200Glu)
|
|
|
NM_000744.7(CHRNA4):c.602T>G (p.Leu201Arg)
|
rs2068585275
|
|
NM_000744.7(CHRNA4):c.618T>C (p.Ser206=)
|
rs1057521157
|
|
NM_000744.7(CHRNA4):c.633C>A (p.Ile211=)
|
rs769813725
|
|
NM_000744.7(CHRNA4):c.636G>A (p.Val212=)
|
rs1813403521
|
|
NM_000744.7(CHRNA4):c.639_640inv (p.Ala214Thr)
|
|
|
NM_000744.7(CHRNA4):c.642C>G (p.Ala214=)
|
rs199939003
|
|
NM_000744.7(CHRNA4):c.642C>T (p.Ala214=)
|
|
|
NM_000744.7(CHRNA4):c.66C>T (p.Gly22=)
|
rs2145412236
|
|
NM_000744.7(CHRNA4):c.678_679inv (p.Ala227Thr)
|
|
|
NM_000744.7(CHRNA4):c.681C>G (p.Ala227=)
|
rs45588436
|
|
NM_000744.7(CHRNA4):c.681C>T (p.Ala227=)
|
|
|
NM_000744.7(CHRNA4):c.687C>A (p.Ile229=)
|
rs200063611
|
|
NM_000744.7(CHRNA4):c.708C>G (p.Ala236=)
|
|
|
NM_000744.7(CHRNA4):c.720G>C (p.Arg240=)
|
rs777500590
|
|
NM_000744.7(CHRNA4):c.72G>A (p.Leu24=)
|
|
|
NM_000744.7(CHRNA4):c.732C>G (p.Leu244=)
|
|
|
NM_000744.7(CHRNA4):c.732C>T (p.Leu244=)
|
rs752054605
|
|
NM_000744.7(CHRNA4):c.73C>T (p.Arg25Cys)
|
rs2068812315
|
|
NM_000744.7(CHRNA4):c.744C>T (p.Ile248=)
|
|
|
NM_000744.7(CHRNA4):c.747C>T (p.Asn249=)
|
|
|
NM_000744.7(CHRNA4):c.76+10G>A
|
rs2145412202
|
|
NM_000744.7(CHRNA4):c.76+12G>C
|
rs796052315
|
|
NM_000744.7(CHRNA4):c.76+13G>T
|
|
|
NM_000744.7(CHRNA4):c.76+9C>G
|
|
|
NM_000744.7(CHRNA4):c.768C>T (p.Leu256=)
|
|
|
NM_000744.7(CHRNA4):c.77-16C>G
|
|
|
NM_000744.7(CHRNA4):c.77-5C>G
|
rs200082259
|
|
NM_000744.7(CHRNA4):c.77-5C>T
|
rs200082259
|
|
NM_000744.7(CHRNA4):c.77-5del
|
rs1209439525
|
|
NM_000744.7(CHRNA4):c.77-8C>A
|
|
|
NM_000744.7(CHRNA4):c.777C>T (p.Cys259=)
|
rs1555837947
|
|
NM_000744.7(CHRNA4):c.792C>G (p.Val264=)
|
|
|
NM_000744.7(CHRNA4):c.801G>A (p.Leu267=)
|
rs747762347
|
|
NM_000744.7(CHRNA4):c.804C>T (p.Pro268=)
|
|
|
NM_000744.7(CHRNA4):c.808G>C (p.Glu270Gln)
|
|
|
NM_000744.7(CHRNA4):c.816C>T (p.Gly272=)
|
rs981113016
|
|
NM_000744.7(CHRNA4):c.819G>A (p.Glu273=)
|
|
|
NM_000744.7(CHRNA4):c.825C>A (p.Ile275=)
|
|
|
NM_000744.7(CHRNA4):c.831G>A (p.Leu277=)
|
|
|
NM_000744.7(CHRNA4):c.831G>T (p.Leu277=)
|
rs762201442
|
|
NM_000744.7(CHRNA4):c.855C>T (p.Leu285=)
|
rs2123472214
|
|
NM_000744.7(CHRNA4):c.861C>G (p.Val287=)
|
rs2068578110
|
|
NM_000744.7(CHRNA4):c.873C>T (p.Leu291=)
|
|
|
NM_000744.7(CHRNA4):c.87T>C (p.His29=)
|
|
|
NM_000744.7(CHRNA4):c.888C>A (p.Ile296=)
|
|
|
NM_000744.7(CHRNA4):c.888C>T (p.Ile296=)
|
|
|
NM_000744.7(CHRNA4):c.891G>A (p.Pro297=)
|
|
|
NM_000744.7(CHRNA4):c.901C>T (p.Leu301=)
|
rs2123472082
|
|
NM_000744.7(CHRNA4):c.918C>T (p.Ile306=)
|
|
|
NM_000744.7(CHRNA4):c.919G>A (p.Gly307Ser)
|
rs764586079
|
|
NM_000744.7(CHRNA4):c.936C>T (p.Phe312=)
|
rs2123472003
|
|
NM_000744.7(CHRNA4):c.942G>A (p.Met314Ile)
|
|
|
NM_000744.7(CHRNA4):c.957G>A (p.Leu319=)
|
rs761872673
|
|
NM_000744.7(CHRNA4):c.975C>T (p.Val325=)
|
|
|
NM_000744.7(CHRNA4):c.9del (p.Gly5fs)
|
rs2145412485
|
|
NM_000748.3(CHRNB2):c.1008G>A (p.Lys336=)
|
rs779023843
|
|
NM_000748.3(CHRNB2):c.1011C>A (p.Val337=)
|
rs766422414
|
|
NM_000748.3(CHRNB2):c.1018C>T (p.Leu340=)
|
rs2101521714
|
|
NM_000748.3(CHRNB2):c.1035_1036delinsTT (p.Ala345_Leu346=)
|
rs1571022654
|
|
NM_000748.3(CHRNB2):c.1089G>A (p.Leu363=)
|
rs930562574
|
|
NM_000748.3(CHRNB2):c.108C>T (p.Leu36=)
|
rs2149366138
|
|
NM_000748.3(CHRNB2):c.1093C>A (p.Arg365=)
|
rs1448656942
|
|
NM_000748.3(CHRNB2):c.1098C>A (p.Arg366=)
|
|
|
NM_000748.3(CHRNB2):c.1140A>G (p.Glu380=)
|
|
|
NM_000748.3(CHRNB2):c.1146A>C (p.Pro382=)
|
rs201986342
|
|
NM_000748.3(CHRNB2):c.1146A>T (p.Pro382=)
|
|
|
NM_000748.3(CHRNB2):c.1152C>A (p.Ala384=)
|
rs746495548
|
|
NM_000748.3(CHRNB2):c.1176C>T (p.Asn392=)
|
rs560427247
|
|
NM_000748.3(CHRNB2):c.1180G>A (p.Ala394Thr)
|
rs1557852162
|
|
NM_000748.3(CHRNB2):c.1182G>C (p.Ala394=)
|
rs1202541446
|
|
NM_000748.3(CHRNB2):c.1185G>C (p.Ser395=)
|
|
|
NM_000748.3(CHRNB2):c.1185G>T (p.Ser395=)
|
rs2101522391
|
|
NM_000748.3(CHRNB2):c.1194G>A (p.Gly398=)
|
rs2101522454
|
|
NM_000748.3(CHRNB2):c.1194G>C (p.Gly398=)
|
rs2101522454
|
|
NM_000748.3(CHRNB2):c.1194G>T (p.Gly398=)
|
|
|
NM_000748.3(CHRNB2):c.1200C>G (p.Ala400=)
|
rs1020120934
|
|
NM_000748.3(CHRNB2):c.1215T>A (p.Ala405=)
|
|
|
NM_000748.3(CHRNB2):c.1215T>C (p.Ala405=)
|
|
|
NM_000748.3(CHRNB2):c.1221T>A (p.Pro407=)
|
|
|
NM_000748.3(CHRNB2):c.1239C>G (p.Pro413=)
|
rs372757638
|
|
NM_000748.3(CHRNB2):c.123C>A (p.Arg41=)
|
rs201171352
|
|
NM_000748.3(CHRNB2):c.123C>T (p.Arg41=)
|
rs201171352
|
|
NM_000748.3(CHRNB2):c.1242G>C (p.Gly414=)
|
rs1553204404
|
|
NM_000748.3(CHRNB2):c.1257G>A (p.Pro419=)
|
rs199743038
|
|
NM_000748.3(CHRNB2):c.1275G>C (p.Arg425=)
|
|
|
NM_000748.3(CHRNB2):c.1290C>T (p.Gly430=)
|
|
|
NM_000748.3(CHRNB2):c.1299C>T (p.Phe433=)
|
|
|
NM_000748.3(CHRNB2):c.129C>T (p.Asn43=)
|
|
|
NM_000748.3(CHRNB2):c.12C>G (p.Arg4=)
|
|
|
NM_000748.3(CHRNB2):c.1338+10G>T
|
rs903039235
|
|
NM_000748.3(CHRNB2):c.1339-15G>A
|
rs756629260
|
|
NM_000748.3(CHRNB2):c.1341G>T (p.Val447=)
|
|
|
NM_000748.3(CHRNB2):c.1362C>T (p.Val454=)
|
|
|
NM_000748.3(CHRNB2):c.1365C>T (p.Ala455=)
|
rs1374756061
|
|
NM_000748.3(CHRNB2):c.1372A>G (p.Ile458Val)
|
rs751272610
|
|
NM_000748.3(CHRNB2):c.1374C>T (p.Ile458=)
|
|
|
NM_000748.3(CHRNB2):c.1378C>G (p.Arg460Gly)
|
rs202079239
|
|
NM_000748.3(CHRNB2):c.138C>T (p.Ile46=)
|
rs775128215
|
|
NM_000748.3(CHRNB2):c.1395C>T (p.Ile465=)
|
|
|
NM_000748.3(CHRNB2):c.1458C>T (p.Tyr486=)
|
|
|
NM_000748.3(CHRNB2):c.1470C>T (p.Thr490=)
|
|
|
NM_000748.3(CHRNB2):c.177G>A (p.Gln59=)
|
|
|
NM_000748.3(CHRNB2):c.210+18del
|
|
|
NM_000748.3(CHRNB2):c.210+3G>A
|
rs1571020415
|
|
NM_000748.3(CHRNB2):c.211-15T>C
|
|
|
NM_000748.3(CHRNB2):c.211-6C>T
|
|
|
NM_000748.3(CHRNB2):c.211-7C>A
|
|
|
NM_000748.3(CHRNB2):c.211-8C>T
|
|
|
NM_000748.3(CHRNB2):c.21C>G (p.Pro7=)
|
rs769654213
|
|
NM_000748.3(CHRNB2):c.240T>C (p.Asn80=)
|
rs1571020620
|
|
NM_000748.3(CHRNB2):c.247C>T (p.Leu83=)
|
|
|
NM_000748.3(CHRNB2):c.255+13G>A
|
|
|
NM_000748.3(CHRNB2):c.255+16C>T
|
|
|
NM_000748.3(CHRNB2):c.255+7G>A
|
rs190374968
|
|
NM_000748.3(CHRNB2):c.256-10C>G
|
rs1696137209
|
|
NM_000748.3(CHRNB2):c.256-10C>T
|
rs1696137209
|
|
NM_000748.3(CHRNB2):c.256-15T>C
|
|
|
NM_000748.3(CHRNB2):c.256-17C>A
|
|
|
NM_000748.3(CHRNB2):c.27G>T (p.Ala9=)
|
|
|
NM_000748.3(CHRNB2):c.315T>C (p.Val105=)
|
rs1571020906
|
|
NM_000748.3(CHRNB2):c.318G>A (p.Arg106=)
|
rs1571020924
|
|
NM_000748.3(CHRNB2):c.321C>T (p.Leu107=)
|
|
|
NM_000748.3(CHRNB2):c.333C>T (p.His111=)
|
|
|
NM_000748.3(CHRNB2):c.33C>G (p.Leu11=)
|
rs927757182
|
|
NM_000748.3(CHRNB2):c.33C>T (p.Leu11=)
|
rs927757182
|
|
NM_000748.3(CHRNB2):c.360C>T (p.Tyr120=)
|
rs867870791
|
|
NM_000748.3(CHRNB2):c.360CAA[1] (p.Asn122del)
|
rs796052329
|
|
NM_000748.3(CHRNB2):c.365+13G>A
|
|
|
NM_000748.3(CHRNB2):c.365+19T>C
|
|
|
NM_000748.3(CHRNB2):c.393C>T (p.Phe131=)
|
|
|
NM_000748.3(CHRNB2):c.402T>C (p.Asn134=)
|
rs760458701
|
|
NM_000748.3(CHRNB2):c.405C>G (p.Ala135=)
|
rs777250519
|
|
NM_000748.3(CHRNB2):c.411C>T (p.Val137=)
|
|
|
NM_000748.3(CHRNB2):c.42C>T (p.Phe14=)
|
rs770555906
|
|
NM_000748.3(CHRNB2):c.441G>A (p.Pro147=)
|
rs780464481
|
|
NM_000748.3(CHRNB2):c.456G>A (p.Lys152=)
|
rs2101520375
|
|
NM_000748.3(CHRNB2):c.462A>G (p.Ala154=)
|
|
|
NM_000748.3(CHRNB2):c.498G>A (p.Gln166=)
|
rs2101520429
|
|
NM_000748.3(CHRNB2):c.531C>A (p.Thr177=)
|
rs2101520486
|
|
NM_000748.3(CHRNB2):c.534C>T (p.Tyr178=)
|
rs1211673895
|
|
NM_000748.3(CHRNB2):c.549C>A (p.Ile183=)
|
rs776372933
|
|
NM_000748.3(CHRNB2):c.549C>T (p.Ile183=)
|
rs776372933
|
|
NM_000748.3(CHRNB2):c.54G>A (p.Arg18=)
|
|
|
NM_000748.3(CHRNB2):c.54G>T (p.Arg18=)
|
rs1486696741
|
|
NM_000748.3(CHRNB2):c.57G>A (p.Leu19=)
|
rs2149365770
|
|
NM_000748.3(CHRNB2):c.60C>T (p.Cys20=)
|
|
|
NM_000748.3(CHRNB2):c.622C>T (p.Leu208=)
|
rs906389720
|
|
NM_000748.3(CHRNB2):c.64+13C>T
|
|
|
NM_000748.3(CHRNB2):c.64+17C>T
|
|
|
NM_000748.3(CHRNB2):c.64+9A>G
|
|
|
NM_000748.3(CHRNB2):c.645C>T (p.Asn215=)
|
|
|
NM_000748.3(CHRNB2):c.648C>G (p.Pro216=)
|
rs370886747
|
|
NM_000748.3(CHRNB2):c.660G>A (p.Thr220=)
|
|
|
NM_000748.3(CHRNB2):c.663C>T (p.Tyr221=)
|
|
|
NM_000748.3(CHRNB2):c.675G>A (p.Thr225=)
|
rs994716085
|
|
NM_000748.3(CHRNB2):c.675G>C (p.Thr225=)
|
rs994716085
|
|
NM_000748.3(CHRNB2):c.678T>C (p.Tyr226=)
|
rs1473412414
|
|
NM_000748.3(CHRNB2):c.690T>C (p.Ile230=)
|
rs2101520893
|
|
NM_000748.3(CHRNB2):c.693C>G (p.Arg231=)
|
rs2101520907
|
|
NM_000748.3(CHRNB2):c.69G>A (p.Val23=)
|
rs1696121294
|
|
NM_000748.3(CHRNB2):c.702G>A (p.Pro234=)
|
rs200050755
|
|
NM_000748.3(CHRNB2):c.708C>T (p.Phe236=)
|
rs71628622
|
|
NM_000748.3(CHRNB2):c.726C>T (p.Ile242=)
|
|
|
NM_000748.3(CHRNB2):c.756C>T (p.Ala252=)
|
|
|
NM_000748.3(CHRNB2):c.78G>A (p.Thr26=)
|
rs143402032
|
|
NM_000748.3(CHRNB2):c.78G>T (p.Thr26=)
|
|
|
NM_000748.3(CHRNB2):c.801G>A (p.Thr267=)
|
rs200331379
|
|
NM_000748.3(CHRNB2):c.801G>C (p.Thr267=)
|
|
|
NM_000748.3(CHRNB2):c.819G>C (p.Leu273=)
|
rs745793301
|
|
NM_000748.3(CHRNB2):c.846C>T (p.Leu282=)
|
rs1322383536
|
|
NM_000748.3(CHRNB2):c.885G>A (p.Pro295=)
|
|
|
NM_000748.3(CHRNB2):c.918G>A (p.Val306=)
|
|
|
NM_000748.3(CHRNB2):c.91C>A (p.Arg31=)
|
rs145926853
|
|
NM_000748.3(CHRNB2):c.951C>T (p.Cys317=)
|
|
|
NM_000748.3(CHRNB2):c.984G>C (p.Thr328=)
|
|
|
NM_000748.3(CHRNB2):c.990C>A (p.Thr330=)
|
|
|
NM_000748.3(CHRNB2):c.996G>A (p.Ala332=)
|
rs762184252
|
|
NM_001077350.3(NPRL3):c.1014C>T (p.Pro338=)
|
|
|
NM_001077350.3(NPRL3):c.1032-14T>C
|
|
|
NM_001077350.3(NPRL3):c.1032-20G>A
|
rs758612387
|
|
NM_001077350.3(NPRL3):c.1032-20G>T
|
|
|
NM_001077350.3(NPRL3):c.1092T>C (p.Val364=)
|
|
|
NM_001077350.3(NPRL3):c.1104C>T (p.Phe368=)
|
rs2141907858
|
|
NM_001077350.3(NPRL3):c.1113G>A (p.Pro371=)
|
rs148130584
|
|
NM_001077350.3(NPRL3):c.1119C>A (p.Ser373=)
|
rs2141907799
|
|
NM_001077350.3(NPRL3):c.111C>T (p.Ser37=)
|
rs1555446496
|
|
NM_001077350.3(NPRL3):c.1140C>T (p.Pro380=)
|
|
|
NM_001077350.3(NPRL3):c.1143G>C (p.Leu381=)
|
rs1898808230
|
|
NM_001077350.3(NPRL3):c.1149C>G (p.Pro383=)
|
rs577949063
|
|
NM_001077350.3(NPRL3):c.1161+10A>C
|
rs2141907621
|
|
NM_001077350.3(NPRL3):c.1161+20G>A
|
|
|
NM_001077350.3(NPRL3):c.1162-13C>T
|
|
|
NM_001077350.3(NPRL3):c.1162-18A>C
|
|
|
NM_001077350.3(NPRL3):c.1163C>T (p.Thr388Ile)
|
rs758123622
|
|
NM_001077350.3(NPRL3):c.118+18_118+40del
|
|
|
NM_001077350.3(NPRL3):c.118+19G>C
|
|
|
NM_001077350.3(NPRL3):c.119-12G>A
|
rs554836466
|
|
NM_001077350.3(NPRL3):c.119-20C>T
|
|
|
NM_001077350.3(NPRL3):c.119-5C>T
|
rs1596539888
|
|
NM_001077350.3(NPRL3):c.1206T>C (p.Leu402=)
|
|
|
NM_001077350.3(NPRL3):c.1234C>T (p.Leu412=)
|
|
|
NM_001077350.3(NPRL3):c.126G>T (p.Pro42=)
|
rs370587053
|
|
NM_001077350.3(NPRL3):c.1278C>T (p.Asp426=)
|
rs74712570
|
|
NM_001077350.3(NPRL3):c.1287C>G (p.Pro429=)
|
rs2141902159
|
|
NM_001077350.3(NPRL3):c.1299G>T (p.Arg433=)
|
rs749182879
|
|
NM_001077350.3(NPRL3):c.12C>T (p.Asn4=)
|
rs1719721939
|
|
NM_001077350.3(NPRL3):c.1317C>T (p.Leu439=)
|
rs1374917107
|
|
NM_001077350.3(NPRL3):c.1347C>A (p.Ser449=)
|
rs1272247635
|
|
NM_001077350.3(NPRL3):c.1351+11C>T
|
|
|
NM_001077350.3(NPRL3):c.1351+11dup
|
|
|
NM_001077350.3(NPRL3):c.1351+9C>T
|
|
|
NM_001077350.3(NPRL3):c.1352-10T>A
|
|
|
NM_001077350.3(NPRL3):c.1352-17A>G
|
|
|
NM_001077350.3(NPRL3):c.1352-5C>T
|
|
|
NM_001077350.3(NPRL3):c.1352-6C>T
|
|
|
NM_001077350.3(NPRL3):c.1352-9C>G
|
rs539074617
|
|
NM_001077350.3(NPRL3):c.1353C>T (p.Thr451=)
|
rs2141900180
|
|
NM_001077350.3(NPRL3):c.1362T>C (p.Asp454=)
|
rs1218207644
|
|
NM_001077350.3(NPRL3):c.1404A>G (p.Ala468=)
|
rs2141900060
|
|
NM_001077350.3(NPRL3):c.1408C>T (p.Leu470=)
|
|
|
NM_001077350.3(NPRL3):c.1461G>A (p.Leu487=)
|
rs747844612
|
|
NM_001077350.3(NPRL3):c.1466_1467insT (p.Leu490fs)
|
|
|
NM_001077350.3(NPRL3):c.1470G>A (p.Leu490=)
|
rs1172480661
|
|
NM_001077350.3(NPRL3):c.1473G>A (p.Ser491=)
|
|
|
NM_001077350.3(NPRL3):c.1533C>A (p.Arg511=)
|
rs2141899690
|
|
NM_001077350.3(NPRL3):c.1545-15A>T
|
|
|
NM_001077350.3(NPRL3):c.1545-20C>T
|
|
|
NM_001077350.3(NPRL3):c.1545-20_1545-19inv
|
|
|
NM_001077350.3(NPRL3):c.1548C>A (p.Leu516=)
|
rs558200249
|
|
NM_001077350.3(NPRL3):c.1548C>T (p.Leu516=)
|
|
|
NM_001077350.3(NPRL3):c.1563C>A (p.Arg521=)
|
|
|
NM_001077350.3(NPRL3):c.1656G>A (p.Val552=)
|
rs2141894722
|
|
NM_001077350.3(NPRL3):c.1662C>T (p.Thr554=)
|
rs2141894717
|
|
NM_001077350.3(NPRL3):c.1686C>T (p.Ala562=)
|
|
|
NM_001077350.3(NPRL3):c.1701G>C (p.Leu567=)
|
|
|
NM_001077350.3(NPRL3):c.188+10C>T
|
|
|
NM_001077350.3(NPRL3):c.188+13C>A
|
|
|
NM_001077350.3(NPRL3):c.258G>A (p.Leu86=)
|
rs2141960692
|
|
NM_001077350.3(NPRL3):c.294A>G (p.Thr98=)
|
|
|
NM_001077350.3(NPRL3):c.294A>T (p.Thr98=)
|
rs370196395
|
|
NM_001077350.3(NPRL3):c.318+13C>T
|
rs376154100
|
|
NM_001077350.3(NPRL3):c.318+13_318+52del
|
rs1311321918
|
|
NM_001077350.3(NPRL3):c.318+13_318+72del
|
rs2141960376
|
|
NM_001077350.3(NPRL3):c.318+14T>C
|
|
|
NM_001077350.3(NPRL3):c.318+16G>A
|
|
|
NM_001077350.3(NPRL3):c.318+18C>A
|
|
|
NM_001077350.3(NPRL3):c.318+18C>T
|
|
|
NM_001077350.3(NPRL3):c.319-13G>A
|
rs953340982
|
|
NM_001077350.3(NPRL3):c.319-13G>C
|
|
|
NM_001077350.3(NPRL3):c.319-18A>G
|
|
|
NM_001077350.3(NPRL3):c.346A>C (p.Arg116=)
|
|
|
NM_001077350.3(NPRL3):c.369T>G (p.Leu123=)
|
rs2141957568
|
|
NM_001077350.3(NPRL3):c.393+13A>G
|
rs767844249
|
|
NM_001077350.3(NPRL3):c.393+7G>C
|
|
|
NM_001077350.3(NPRL3):c.394-11C>T
|
|
|
NM_001077350.3(NPRL3):c.394-12T>C
|
|
|
NM_001077350.3(NPRL3):c.394-20G>A
|
rs2141950467
|
|
NM_001077350.3(NPRL3):c.394-20_394-19del
|
rs1899875996
|
|
NM_001077350.3(NPRL3):c.394-9C>T
|
|
|
NM_001077350.3(NPRL3):c.396C>T (p.Ala132=)
|
rs1289225879
|
|
NM_001077350.3(NPRL3):c.420C>T (p.Asn140=)
|
rs1330216548
|
|
NM_001077350.3(NPRL3):c.453C>T (p.Thr151=)
|
|
|
NM_001077350.3(NPRL3):c.465C>T (p.His155=)
|
rs774187145
|
|
NM_001077350.3(NPRL3):c.516G>A (p.Ala172=)
|
rs758642036
|
|
NM_001077350.3(NPRL3):c.51C>T (p.Ser17=)
|
|
|
NM_001077350.3(NPRL3):c.531G>A (p.Val177=)
|
rs1899866156
|
|
NM_001077350.3(NPRL3):c.547+12A>C
|
|
|
NM_001077350.3(NPRL3):c.547+12A>G
|
rs1394524575
|
|
NM_001077350.3(NPRL3):c.547+16C>A
|
|
|
NM_001077350.3(NPRL3):c.548-5T>C
|
|
|
NM_001077350.3(NPRL3):c.552T>C (p.Asn184=)
|
rs2141946239
|
|
NM_001077350.3(NPRL3):c.591G>A (p.Lys197=)
|
rs776506827
|
|
NM_001077350.3(NPRL3):c.629+9G>A
|
|
|
NM_001077350.3(NPRL3):c.630-13C>T
|
|
|
NM_001077350.3(NPRL3):c.630-15G>A
|
|
|
NM_001077350.3(NPRL3):c.630-16C>T
|
|
|
NM_001077350.3(NPRL3):c.630-21_630-20dup
|
|
|
NM_001077350.3(NPRL3):c.630-7T>C
|
rs2141925531
|
|
NM_001077350.3(NPRL3):c.666C>T (p.Asn222=)
|
|
|
NM_001077350.3(NPRL3):c.687C>T (p.Phe229=)
|
rs1596508663
|
|
NM_001077350.3(NPRL3):c.69G>C (p.Leu23=)
|
|
|
NM_001077350.3(NPRL3):c.714G>C (p.Ala238=)
|
rs751260495
|
|
NM_001077350.3(NPRL3):c.714G>T (p.Ala238=)
|
rs751260495
|
|
NM_001077350.3(NPRL3):c.732C>A (p.Pro244=)
|
rs1196165192
|
|
NM_001077350.3(NPRL3):c.744C>A (p.Ile248=)
|
rs375592476
|
|
NM_001077350.3(NPRL3):c.744C>T (p.Ile248=)
|
rs375592476
|
|
NM_001077350.3(NPRL3):c.748C>A (p.Arg250=)
|
|
|
NM_001077350.3(NPRL3):c.765C>T (p.Ile255=)
|
|
|
NM_001077350.3(NPRL3):c.767+12G>A
|
|
|
NM_001077350.3(NPRL3):c.767+12G>T
|
|
|
NM_001077350.3(NPRL3):c.767+15C>A
|
|
|
NM_001077350.3(NPRL3):c.767+17A>C
|
|
|
NM_001077350.3(NPRL3):c.767+18C>T
|
rs377414615
|
|
NM_001077350.3(NPRL3):c.767+19del
|
|
|
NM_001077350.3(NPRL3):c.789G>A (p.Leu263=)
|
rs1269886749
|
|
NM_001077350.3(NPRL3):c.804G>A (p.Lys268=)
|
|
|
NM_001077350.3(NPRL3):c.807C>A (p.Ser269=)
|
rs1033607990
|
|
NM_001077350.3(NPRL3):c.834C>T (p.Cys278=)
|
|
|
NM_001077350.3(NPRL3):c.844C>T (p.Leu282=)
|
rs755359263
|
|
NM_001077350.3(NPRL3):c.883C>T (p.Leu295=)
|
rs2141920152
|
|
NM_001077350.3(NPRL3):c.891G>A (p.Gln297=)
|
|
|
NM_001077350.3(NPRL3):c.924+17C>A
|
|
|
NM_001077350.3(NPRL3):c.925-10T>C
|
|
|
NM_001077350.3(NPRL3):c.925-12dup
|
rs776084653
|
|
NM_001077350.3(NPRL3):c.925-6C>T
|
|
|
NM_001077350.3(NPRL3):c.93C>T (p.Ser31=)
|
|
|
NM_001077350.3(NPRL3):c.975C>A (p.Ile325=)
|
rs2141909339
|
|
NM_001077350.3(NPRL3):c.999C>A (p.Val333=)
|
|
|
NM_001099403.2(PRDM8):c.1002C>G (p.Gly334=)
|
|
|
NM_001099403.2(PRDM8):c.1017G>T (p.Arg339=)
|
|
|
NM_001099403.2(PRDM8):c.1104C>T (p.Gly368=)
|
rs1738591619
|
|
NM_001099403.2(PRDM8):c.1146G>A (p.Lys382=)
|
rs2109879211
|
|
NM_001099403.2(PRDM8):c.1155C>T (p.Ala385=)
|
rs2109879231
|
|
NM_001099403.2(PRDM8):c.1158C>T (p.Phe386=)
|
|
|
NM_001099403.2(PRDM8):c.1167G>C (p.Val389=)
|
rs1276443060
|
|
NM_001099403.2(PRDM8):c.1167G>T (p.Val389=)
|
|
|
NM_001099403.2(PRDM8):c.1192C>T (p.Leu398=)
|
|
|
NM_001099403.2(PRDM8):c.1200G>A (p.Glu400=)
|
rs2109879321
|
|
NM_001099403.2(PRDM8):c.1218C>G (p.Gly406=)
|
rs2109879340
|
|
NM_001099403.2(PRDM8):c.1224A>G (p.Gly408=)
|
|
|
NM_001099403.2(PRDM8):c.1233C>G (p.Ser411=)
|
rs2109879360
|
|
NM_001099403.2(PRDM8):c.1245C>T (p.Asp415=)
|
|
|
NM_001099403.2(PRDM8):c.1251C>A (p.Gly417=)
|
rs1377717218
|
|
NM_001099403.2(PRDM8):c.1260C>G (p.Gly420=)
|
|
|
NM_001099403.2(PRDM8):c.1260C>T (p.Gly420=)
|
rs1738615886
|
|
NM_001099403.2(PRDM8):c.1272G>A (p.Thr424=)
|
rs1167938560
|
|
NM_001099403.2(PRDM8):c.1284G>A (p.Ala428=)
|
|
|
NM_001099403.2(PRDM8):c.1290G>A (p.Pro430=)
|
|
|
NM_001099403.2(PRDM8):c.1338C>T (p.Pro446=)
|
|
|
NM_001099403.2(PRDM8):c.1362T>G (p.Pro454=)
|
|
|
NM_001099403.2(PRDM8):c.1380C>T (p.Phe460=)
|
rs2109879578
|
|
NM_001099403.2(PRDM8):c.1392G>T (p.Pro464=)
|
|
|
NM_001099403.2(PRDM8):c.1419C>T (p.Ser473=)
|
rs1738644660
|
|
NM_001099403.2(PRDM8):c.1422T>G (p.Gly474=)
|
rs1400958109
|
|
NM_001099403.2(PRDM8):c.1428C>A (p.Gly476=)
|
|
|
NM_001099403.2(PRDM8):c.1434G>A (p.Thr478=)
|
|
|
NM_001099403.2(PRDM8):c.1437C>A (p.Gly479=)
|
rs904515362
|
|
NM_001099403.2(PRDM8):c.1446C>G (p.Ala482=)
|
rs1578265921
|
|
NM_001099403.2(PRDM8):c.1446C>T (p.Ala482=)
|
rs1578265921
|
|
NM_001099403.2(PRDM8):c.1461C>T (p.Gly487=)
|
|
|
NM_001099403.2(PRDM8):c.1476C>G (p.Ala492=)
|
rs1279321008
|
|
NM_001099403.2(PRDM8):c.1497C>T (p.Ser499=)
|
|
|
NM_001099403.2(PRDM8):c.1546C>T (p.Leu516=)
|
|
|
NM_001099403.2(PRDM8):c.1611C>G (p.Leu537=)
|
|
|
NM_001099403.2(PRDM8):c.1638G>T (p.Ala546=)
|
|
|
NM_001099403.2(PRDM8):c.1659G>A (p.Ala553=)
|
rs961379038
|
|
NM_001099403.2(PRDM8):c.1659G>C (p.Ala553=)
|
rs961379038
|
|
NM_001099403.2(PRDM8):c.1665G>A (p.Leu555=)
|
|
|
NM_001099403.2(PRDM8):c.1668C>T (p.Asn556=)
|
rs2109880238
|
|
NM_001099403.2(PRDM8):c.1671A>G (p.Gly557=)
|
rs1287823085
|
|
NM_001099403.2(PRDM8):c.1677C>T (p.Cys559=)
|
rs762021094
|
|
NM_001099403.2(PRDM8):c.1680G>A (p.Gly560=)
|
|
|
NM_001099403.2(PRDM8):c.1692C>T (p.Ser564=)
|
|
|
NM_001099403.2(PRDM8):c.1698C>G (p.Gly566=)
|
rs1738695026
|
|
NM_001099403.2(PRDM8):c.1725C>T (p.Phe575=)
|
|
|
NM_001099403.2(PRDM8):c.1743C>T (p.Phe581=)
|
|
|
NM_001099403.2(PRDM8):c.1764C>T (p.Ala588=)
|
|
|
NM_001099403.2(PRDM8):c.1767T>C (p.Ala589=)
|
rs773515375
|
|
NM_001099403.2(PRDM8):c.1782G>A (p.Ala594=)
|
rs924936492
|
|
NM_001099403.2(PRDM8):c.1788G>C (p.Ala596=)
|
rs752184496
|
|
NM_001099403.2(PRDM8):c.1812G>A (p.Gln604=)
|
rs1553906523
|
|
NM_001099403.2(PRDM8):c.1833G>C (p.Leu611=)
|
|
|
NM_001099403.2(PRDM8):c.1839G>T (p.Pro613=)
|
|
|
NM_001099403.2(PRDM8):c.1845C>T (p.Ser615=)
|
|
|
NM_001099403.2(PRDM8):c.1875C>T (p.Asn625=)
|
|
|
NM_001099403.2(PRDM8):c.1881C>T (p.Cys627=)
|
|
|
NM_001099403.2(PRDM8):c.1884C>G (p.Ala628=)
|
rs1738733654
|
|
NM_001099403.2(PRDM8):c.1950G>A (p.Lys650=)
|
|
|
NM_001099403.2(PRDM8):c.1959G>T (p.Ala653=)
|
|
|
NM_001099403.2(PRDM8):c.1968C>G (p.Pro656=)
|
rs547453696
|
|
NM_001099403.2(PRDM8):c.1986A>G (p.Arg662=)
|
|
|
NM_001099403.2(PRDM8):c.2022C>T (p.Ser674=)
|
rs765557090
|
|
NM_001099403.2(PRDM8):c.207G>A (p.Pro69=)
|
|
|
NM_001099403.2(PRDM8):c.219+13T>C
|
|
|
NM_001099403.2(PRDM8):c.219+17G>T
|
|
|
NM_001099403.2(PRDM8):c.220-20T>C
|
rs765904617
|
|
NM_001099403.2(PRDM8):c.363C>G (p.Ala121=)
|
rs1263648679
|
|
NM_001099403.2(PRDM8):c.415T>C (p.Leu139=)
|
rs1738440035
|
|
NM_001099403.2(PRDM8):c.451+20G>A
|
rs2109877266
|
|
NM_001099403.2(PRDM8):c.452-19G>T
|
rs777390514
|
|
NM_001099403.2(PRDM8):c.504C>T (p.Phe168=)
|
|
|
NM_001099403.2(PRDM8):c.564T>C (p.Ser188=)
|
|
|
NM_001099403.2(PRDM8):c.573C>T (p.Asp191=)
|
|
|
NM_001099403.2(PRDM8):c.57A>G (p.Gln19=)
|
rs2109875602
|
|
NM_001099403.2(PRDM8):c.591G>T (p.Val197=)
|
|
|
NM_001099403.2(PRDM8):c.630A>G (p.Lys210=)
|
rs1738515726
|
|
NM_001099403.2(PRDM8):c.633C>T (p.Asp211=)
|
|
|
NM_001099403.2(PRDM8):c.639G>A (p.Gln213=)
|
rs749943042
|
|
NM_001099403.2(PRDM8):c.654G>A (p.Glu218=)
|
rs1553905625
|
|
NM_001099403.2(PRDM8):c.666C>T (p.Gly222=)
|
|
|
NM_001099403.2(PRDM8):c.687A>G (p.Lys229=)
|
|
|
NM_001099403.2(PRDM8):c.747C>G (p.Ala249=)
|
rs1578263531
|
|
NM_001099403.2(PRDM8):c.750C>T (p.Ala250=)
|
rs1458732519
|
|
NM_001099403.2(PRDM8):c.798G>A (p.Arg266=)
|
rs2109878495
|
|
NM_001099403.2(PRDM8):c.804G>A (p.Leu268=)
|
rs1279908364
|
|
NM_001099403.2(PRDM8):c.81C>T (p.Thr27=)
|
|
|
NM_001099403.2(PRDM8):c.867C>T (p.Ser289=)
|
rs750918327
|
|
NM_001099403.2(PRDM8):c.921G>C (p.Thr307=)
|
rs770919711
|
|
NM_001099403.2(PRDM8):c.945A>G (p.Lys315=)
|
|
|
NM_001099403.2(PRDM8):c.951G>A (p.Pro317=)
|
|
|
NM_001099403.2(PRDM8):c.996C>G (p.Gly332=)
|
|
|
NM_001112741.2(KCNC1):c.1002G>A (p.Leu334=)
|
|
|
NM_001112741.2(KCNC1):c.1005C>T (p.Gly335=)
|
|
|
NM_001112741.2(KCNC1):c.1008C>T (p.His336=)
|
rs2133805231
|
|
NM_001112741.2(KCNC1):c.1011G>A (p.Thr337=)
|
|
|
NM_001112741.2(KCNC1):c.1011G>T (p.Thr337=)
|
rs1408786425
|
|
NM_001112741.2(KCNC1):c.102C>A (p.Leu34=)
|
rs370742331
|
|
NM_001112741.2(KCNC1):c.102C>T (p.Leu34=)
|
|
|
NM_001112741.2(KCNC1):c.1059C>T (p.Ala353=)
|
rs370151071
|
|
NM_001112741.2(KCNC1):c.105C>G (p.Ala35=)
|
|
|
NM_001112741.2(KCNC1):c.1077C>T (p.Phe359=)
|
|
|
NM_001112741.2(KCNC1):c.1116G>A (p.Gln372=)
|
rs1590106691
|
|
NM_001112741.2(KCNC1):c.1119C>T (p.Pro373=)
|
rs143960025
|
|
NM_001112741.2(KCNC1):c.1149C>T (p.His383=)
|
rs555654219
|
|
NM_001112741.2(KCNC1):c.1173C>T (p.Phe391=)
|
|
|
NM_001112741.2(KCNC1):c.120C>G (p.Pro40=)
|
rs1590088845
|
|
NM_001112741.2(KCNC1):c.1230G>A (p.Thr410=)
|
|
|
NM_001112741.2(KCNC1):c.1239C>T (p.Gly413=)
|
rs2133805399
|
|
NM_001112741.2(KCNC1):c.1245G>T (p.Leu415=)
|
rs1849239262
|
|
NM_001112741.2(KCNC1):c.1260T>C (p.Cys420=)
|
|
|
NM_001112741.2(KCNC1):c.1263G>T (p.Ala421=)
|
rs915600389
|
|
NM_001112741.2(KCNC1):c.1266G>A (p.Leu422=)
|
rs1849239879
|
|
NM_001112741.2(KCNC1):c.1272C>T (p.Gly424=)
|
|
|
NM_001112741.2(KCNC1):c.1278C>G (p.Leu426=)
|
|
|
NM_001112741.2(KCNC1):c.1278C>T (p.Leu426=)
|
|
|
NM_001112741.2(KCNC1):c.1293C>T (p.Pro431=)
|
rs577711585
|
|
NM_001112741.2(KCNC1):c.1299C>T (p.Pro433=)
|
|
|
NM_001112741.2(KCNC1):c.1332C>T (p.Ser444=)
|
rs1849240658
|
|
NM_001112741.2(KCNC1):c.1350G>A (p.Gln450=)
|
|
|
NM_001112741.2(KCNC1):c.1353A>G (p.Lys451=)
|
|
|
NM_001112741.2(KCNC1):c.1374G>A (p.Lys458=)
|
|
|
NM_001112741.2(KCNC1):c.1407C>A (p.Pro469=)
|
|
|
NM_001112741.2(KCNC1):c.1413T>C (p.Tyr471=)
|
rs1395569436
|
|
NM_001112741.2(KCNC1):c.1425C>T (p.Val475=)
|
|
|
NM_001112741.2(KCNC1):c.1440C>T (p.His480=)
|
rs1554991429
|
|
NM_001112741.2(KCNC1):c.1468C>T (p.Leu490=)
|
|
|
NM_001112741.2(KCNC1):c.147C>T (p.Asp49=)
|
rs2133774090
|
|
NM_001112741.2(KCNC1):c.1505-11T>C
|
rs1849322026
|
|
NM_001112741.2(KCNC1):c.1505-14T>C
|
|
|
NM_001112741.2(KCNC1):c.1505-8G>A
|
rs1353872876
|
|
NM_001112741.2(KCNC1):c.150G>C (p.Pro50=)
|
|
|
NM_001112741.2(KCNC1):c.1584C>G (p.Pro528=)
|
rs1044982783
|
|
NM_001112741.2(KCNC1):c.1587T>C (p.Asp529=)
|
|
|
NM_001112741.2(KCNC1):c.1611G>A (p.Ser537=)
|
|
|
NM_001112741.2(KCNC1):c.1614C>A (p.Gly538=)
|
|
|
NM_001112741.2(KCNC1):c.1653C>G (p.Thr551=)
|
|
|
NM_001112741.2(KCNC1):c.1693+10G>A
|
|
|
NM_001112741.2(KCNC1):c.1694-20A>C
|
|
|
NM_001112741.2(KCNC1):c.1704A>G (p.Lys568=)
|
rs1590110945
|
|
NM_001112741.2(KCNC1):c.1755T>C (p.Thr585=)
|
rs1849348583
|
|
NM_001112741.2(KCNC1):c.183C>T (p.Pro61=)
|
rs1565152688
|
|
NM_001112741.2(KCNC1):c.219G>C (p.Thr73=)
|
rs760446616
|
|
NM_001112741.2(KCNC1):c.219G>T (p.Thr73=)
|
|
|
NM_001112741.2(KCNC1):c.237A>C (p.Pro79=)
|
|
|
NM_001112741.2(KCNC1):c.246G>T (p.Val82=)
|
rs976496510
|
|
NM_001112741.2(KCNC1):c.249C>T (p.Cys83=)
|
rs2133774214
|
|
NM_001112741.2(KCNC1):c.258C>G (p.Leu86=)
|
rs923234444
|
|
NM_001112741.2(KCNC1):c.261C>T (p.Tyr87=)
|
rs2133774226
|
|
NM_001112741.2(KCNC1):c.285C>T (p.Gly95=)
|
|
|
NM_001112741.2(KCNC1):c.30C>T (p.Ile10=)
|
|
|
NM_001112741.2(KCNC1):c.345C>G (p.Ala115=)
|
|
|
NM_001112741.2(KCNC1):c.345C>T (p.Ala115=)
|
|
|
NM_001112741.2(KCNC1):c.355C>T (p.Leu119=)
|
|
|
NM_001112741.2(KCNC1):c.36C>A (p.Ile12=)
|
rs2133773940
|
|
NM_001112741.2(KCNC1):c.393C>T (p.Ala131=)
|
rs1208626021
|
|
NM_001112741.2(KCNC1):c.402G>A (p.Ala134=)
|
rs1590089002
|
|
NM_001112741.2(KCNC1):c.408C>T (p.Ala136=)
|
rs2133774376
|
|
NM_001112741.2(KCNC1):c.420C>A (p.Gly140=)
|
rs750885846
|
|
NM_001112741.2(KCNC1):c.432C>T (p.Asp144=)
|
|
|
NM_001112741.2(KCNC1):c.435C>A (p.Gly145=)
|
rs767598381
|
|
NM_001112741.2(KCNC1):c.459G>A (p.Lys153=)
|
|
|
NM_001112741.2(KCNC1):c.465G>T (p.Leu155=)
|
rs1261040962
|
|
NM_001112741.2(KCNC1):c.468G>A (p.Ala156=)
|
|
|
NM_001112741.2(KCNC1):c.468G>C (p.Ala156=)
|
|
|
NM_001112741.2(KCNC1):c.468G>T (p.Ala156=)
|
rs200830147
|
|
NM_001112741.2(KCNC1):c.483G>C (p.Pro161=)
|
|
|
NM_001112741.2(KCNC1):c.489C>T (p.Gly163=)
|
rs1848767998
|
|
NM_001112741.2(KCNC1):c.492G>C (p.Arg164=)
|
rs200097310
|
|
NM_001112741.2(KCNC1):c.51G>A (p.Thr17=)
|
rs1423569470
|
|
NM_001112741.2(KCNC1):c.540C>T (p.Phe180=)
|
|
|
NM_001112741.2(KCNC1):c.558C>T (p.Ser186=)
|
rs1239110234
|
|
NM_001112741.2(KCNC1):c.571-15T>A
|
|
|
NM_001112741.2(KCNC1):c.571-17T>A
|
|
|
NM_001112741.2(KCNC1):c.603G>T (p.Leu201=)
|
|
|
NM_001112741.2(KCNC1):c.612C>A (p.Ile204=)
|
rs1294173097
|
|
NM_001112741.2(KCNC1):c.672C>A (p.Ile224=)
|
rs773018717
|
|
NM_001112741.2(KCNC1):c.714G>A (p.Glu238=)
|
rs2133804963
|
|
NM_001112741.2(KCNC1):c.729C>T (p.Ala243=)
|
rs1565162637
|
|
NM_001112741.2(KCNC1):c.78G>C (p.Leu26=)
|
rs762218553
|
|
NM_001112741.2(KCNC1):c.792C>T (p.Val264=)
|
|
|
NM_001112741.2(KCNC1):c.801C>T (p.Cys267=)
|
|
|
NM_001112741.2(KCNC1):c.819C>T (p.Phe273=)
|
rs2133805071
|
|
NM_001112741.2(KCNC1):c.822C>A (p.Ile274=)
|
|
|
NM_001112741.2(KCNC1):c.822C>T (p.Ile274=)
|
|
|
NM_001112741.2(KCNC1):c.831G>A (p.Ser277=)
|
rs765494674
|
|
NM_001112741.2(KCNC1):c.84G>A (p.Thr28=)
|
|
|
NM_001112741.2(KCNC1):c.882G>T (p.Gly294=)
|
rs1849235107
|
|
NM_001112741.2(KCNC1):c.883C>T (p.Leu295=)
|
|
|
NM_001112741.2(KCNC1):c.891C>G (p.Gly297=)
|
rs1045267894
|
|
NM_001112741.2(KCNC1):c.919C>T (p.Leu307=)
|
rs1158060067
|
|
NM_001112741.2(KCNC1):c.936C>T (p.Val312=)
|
|
|
NM_001112741.2(KCNC1):c.948G>A (p.Val316=)
|
rs1462259575
|
|
NM_001122752.2(SERPINI1):c.1020C>A (p.Ser340=)
|
|
|
NM_001122752.2(SERPINI1):c.1026A>G (p.Leu342=)
|
rs2108575349
|
|
NM_001122752.2(SERPINI1):c.1035T>C (p.Asn345=)
|
rs1044875919
|
|
NM_001122752.2(SERPINI1):c.1062C>A (p.Val354=)
|
|
|
NM_001122752.2(SERPINI1):c.1066+13A>G
|
|
|
NM_001122752.2(SERPINI1):c.1066+19T>C
|
|
|
NM_001122752.2(SERPINI1):c.1067-11C>T
|
|
|
NM_001122752.2(SERPINI1):c.1067-14T>C
|
|
|
NM_001122752.2(SERPINI1):c.1067-18T>G
|
|
|
NM_001122752.2(SERPINI1):c.1067-20A>G
|
|
|
NM_001122752.2(SERPINI1):c.1067-4G>A
|
rs1414777080
|
|
NM_001122752.2(SERPINI1):c.1067-6C>A
|
|
|
NM_001122752.2(SERPINI1):c.1067-6C>T
|
rs759360650
|
|
NM_001122752.2(SERPINI1):c.1141A>C (p.Arg381=)
|
|
|
NM_001122752.2(SERPINI1):c.1157-18A>T
|
|
|
NM_001122752.2(SERPINI1):c.1157-4A>G
|
rs2108576458
|
|
NM_001122752.2(SERPINI1):c.1167A>G (p.Leu389=)
|
|
|
NM_001122752.2(SERPINI1):c.1176A>C (p.Gly392=)
|
|
|
NM_001122752.2(SERPINI1):c.1176A>T (p.Gly392=)
|
rs775874977
|
|
NM_001122752.2(SERPINI1):c.1221C>T (p.Phe407=)
|
rs149238028
|
|
NM_001122752.2(SERPINI1):c.132A>G (p.Glu44=)
|
|
|
NM_001122752.2(SERPINI1):c.189G>A (p.Gly63=)
|
|
|
NM_001122752.2(SERPINI1):c.219C>T (p.Arg73=)
|
|
|
NM_001122752.2(SERPINI1):c.250+11T>C
|
|
|
NM_001122752.2(SERPINI1):c.250+9G>A
|
rs1218012905
|
|
NM_001122752.2(SERPINI1):c.251-7C>T
|
rs751958524
|
|
NM_001122752.2(SERPINI1):c.268T>C (p.Leu90=)
|
|
|
NM_001122752.2(SERPINI1):c.28C>T (p.Leu10=)
|
|
|
NM_001122752.2(SERPINI1):c.297T>C (p.Ala99=)
|
rs61761891
|
|
NM_001122752.2(SERPINI1):c.303G>A (p.Glu101=)
|
|
|
NM_001122752.2(SERPINI1):c.312T>C (p.Tyr104=)
|
|
|
NM_001122752.2(SERPINI1):c.360C>T (p.Val120=)
|
|
|
NM_001122752.2(SERPINI1):c.372T>C (p.Phe124=)
|
rs2108557153
|
|
NM_001122752.2(SERPINI1):c.402A>G (p.Ala134=)
|
rs2108557185
|
|
NM_001122752.2(SERPINI1):c.441G>T (p.Val147=)
|
rs1577419314
|
|
NM_001122752.2(SERPINI1):c.453C>A (p.Ile151=)
|
|
|
NM_001122752.2(SERPINI1):c.481+13G>A
|
|
|
NM_001122752.2(SERPINI1):c.481+17C>T
|
|
|
NM_001122752.2(SERPINI1):c.481+8A>G
|
|
|
NM_001122752.2(SERPINI1):c.496T>C (p.Leu166=)
|
rs1727566141
|
|
NM_001122752.2(SERPINI1):c.54G>A (p.Gly18=)
|
|
|
NM_001122752.2(SERPINI1):c.552C>A (p.Val184=)
|
rs1577420587
|
|
NM_001122752.2(SERPINI1):c.573G>A (p.Lys191=)
|
rs1553774750
|
|
NM_001122752.2(SERPINI1):c.576G>C (p.Ser192=)
|
|
|
NM_001122752.2(SERPINI1):c.585G>A (p.Arg195=)
|
rs976025763
|
|
NM_001122752.2(SERPINI1):c.60T>C (p.Thr20=)
|
|
|
NM_001122752.2(SERPINI1):c.654T>C (p.Tyr218=)
|
|
|
NM_001122752.2(SERPINI1):c.663A>C (p.Gly221=)
|
|
|
NM_001122752.2(SERPINI1):c.676+10T>C
|
|
|
NM_001122752.2(SERPINI1):c.676+8A>C
|
|
|
NM_001122752.2(SERPINI1):c.676+8del
|
|
|
NM_001122752.2(SERPINI1):c.676+9T>C
|
|
|
NM_001122752.2(SERPINI1):c.681A>G (p.Glu227=)
|
rs1560010596
|
|
NM_001122752.2(SERPINI1):c.690T>C (p.Asp230=)
|
|
|
NM_001122752.2(SERPINI1):c.726A>G (p.Leu242=)
|
|
|
NM_001122752.2(SERPINI1):c.777A>G (p.Arg259=)
|
|
|
NM_001122752.2(SERPINI1):c.846T>C (p.Ser282=)
|
|
|
NM_001122752.2(SERPINI1):c.84C>T (p.Asp28=)
|
rs2108556255
|
|
NM_001122752.2(SERPINI1):c.876G>T (p.Leu292=)
|
rs2108559999
|
|
NM_001122752.2(SERPINI1):c.879C>T (p.Pro293=)
|
|
|
NM_001122752.2(SERPINI1):c.881+14G>A
|
|
|
NM_001122752.2(SERPINI1):c.881+15T>G
|
rs1214620302
|
|
NM_001122752.2(SERPINI1):c.957T>C (p.Asp319=)
|
rs1711682457
|
|
NM_001122752.2(SERPINI1):c.972C>A (p.Gly324=)
|
rs554583291
|
|
NM_001122752.2(SERPINI1):c.975C>G (p.Leu325=)
|
rs2108567299
|
|
NM_001122752.2(SERPINI1):c.979+17A>C
|
|
|
NM_001122752.2(SERPINI1):c.979+19T>C
|
|
|
NM_001122752.2(SERPINI1):c.980-9T>C
|
|
|
NM_001134407.3(GRIN2A):c.1007+12C>A
|
|
|
NM_001134407.3(GRIN2A):c.1007+17T>C
|
|
|
NM_001134407.3(GRIN2A):c.1007+8A>G
|
rs2141629108
|
|
NM_001134407.3(GRIN2A):c.1008-14C>T
|
rs776960433
|
|
NM_001134407.3(GRIN2A):c.1008-6T>G
|
|
|
NM_001134407.3(GRIN2A):c.1008-8C>T
|
|
|
NM_001134407.3(GRIN2A):c.1035C>T (p.Gly345=)
|
|
|
NM_001134407.3(GRIN2A):c.1041C>T (p.Asp347=)
|
rs1390365288
|
|
NM_001134407.3(GRIN2A):c.1044A>G (p.Leu348=)
|
|
|
NM_001134407.3(GRIN2A):c.1047C>T (p.Ser349=)
|
|
|
NM_001134407.3(GRIN2A):c.1072C>A (p.His358Asn)
|
|
|
NM_001134407.3(GRIN2A):c.1074C>G (p.His358Gln)
|
rs763315364
|
|
NM_001134407.3(GRIN2A):c.1078A>C (p.Arg360=)
|
rs929836056
|
|
NM_001134407.3(GRIN2A):c.1081C>T (p.Leu361=)
|
rs267604690
|
|
NM_001134407.3(GRIN2A):c.1083G>A (p.Leu361=)
|
|
|
NM_001134407.3(GRIN2A):c.108T>A (p.Ile36=)
|
|
|
NM_001134407.3(GRIN2A):c.1123-19C>T
|
|
|
NM_001134407.3(GRIN2A):c.1125G>C (p.Val375=)
|
rs2141370109
|
|
NM_001134407.3(GRIN2A):c.1131G>A (p.Lys377=)
|
rs1465011695
|
|
NM_001134407.3(GRIN2A):c.1141C>A (p.His381Asn)
|
|
|
NM_001134407.3(GRIN2A):c.1145C>G (p.Thr382Arg)
|
|
|
NM_001134407.3(GRIN2A):c.1149G>A (p.Leu383=)
|
rs1219972496
|
|
NM_001134407.3(GRIN2A):c.1155G>A (p.Leu385=)
|
rs139119497
|
|
NM_001134407.3(GRIN2A):c.1200G>A (p.Glu400=)
|
|
|
NM_001134407.3(GRIN2A):c.1203G>T (p.Pro401=)
|
|
|
NM_001134407.3(GRIN2A):c.120G>T (p.Leu40=)
|
rs2050239024
|
|
NM_001134407.3(GRIN2A):c.123T>C (p.Gly41=)
|
|
|
NM_001134407.3(GRIN2A):c.1242C>A (p.Ala414=)
|
|
|
NM_001134407.3(GRIN2A):c.1254C>A (p.Ile418=)
|
|
|
NM_001134407.3(GRIN2A):c.1269C>T (p.Asp423=)
|
rs766685370
|
|
NM_001134407.3(GRIN2A):c.1271C>T (p.Pro424Leu)
|
rs375260513
|
|
NM_001134407.3(GRIN2A):c.1272C>T (p.Pro424=)
|
|
|
NM_001134407.3(GRIN2A):c.1296C>T (p.Asn432=)
|
|
|
NM_001134407.3(GRIN2A):c.1305A>C (p.Pro435=)
|
rs1555496114
|
|
NM_001134407.3(GRIN2A):c.1308T>C (p.Cys436=)
|
|
|
NM_001134407.3(GRIN2A):c.1317C>T (p.Phe439=)
|
|
|
NM_001134407.3(GRIN2A):c.1322A>C (p.Lys441Thr)
|
|
|
NM_001134407.3(GRIN2A):c.1328+11G>A
|
|
|
NM_001134407.3(GRIN2A):c.1328+13A>G
|
|
|
NM_001134407.3(GRIN2A):c.1329-20C>G
|
|
|
NM_001134407.3(GRIN2A):c.1329-5T>C
|
rs2141346229
|
|
NM_001134407.3(GRIN2A):c.1329-7dup
|
rs1455515948
|
|
NM_001134407.3(GRIN2A):c.1342G>A (p.Glu448Lys)
|
rs368026708
|
|
NM_001134407.3(GRIN2A):c.1351A>T (p.Asn451Tyr)
|
rs2141345962
|
|
NM_001134407.3(GRIN2A):c.1352A>G (p.Asn451Ser)
|
|
|
NM_001134407.3(GRIN2A):c.1374G>A (p.Gly458=)
|
rs368221866
|
|
NM_001134407.3(GRIN2A):c.1374G>T (p.Gly458=)
|
rs368221866
|
|
NM_001134407.3(GRIN2A):c.1386T>C (p.Asp462=)
|
|
|
NM_001134407.3(GRIN2A):c.1410T>A (p.Thr470=)
|
rs372058698
|
|
NM_001134407.3(GRIN2A):c.1410T>C (p.Thr470=)
|
rs372058698
|
|
NM_001134407.3(GRIN2A):c.1426G>A (p.Asp476Asn)
|
|
|
NM_001134407.3(GRIN2A):c.1428C>T (p.Asp476=)
|
rs762674544
|
|
NM_001134407.3(GRIN2A):c.1431C>G (p.Leu477=)
|
rs772869148
|
|
NM_001134407.3(GRIN2A):c.1446T>C (p.Asn482=)
|
|
|
NM_001134407.3(GRIN2A):c.144G>A (p.Glu48=)
|
rs1334555320
|
|
NM_001134407.3(GRIN2A):c.1497+19C>T
|
rs1432754649
|
|
NM_001134407.3(GRIN2A):c.1498-18T>C
|
|
|
NM_001134407.3(GRIN2A):c.1498-4C>T
|
|
|
NM_001134407.3(GRIN2A):c.1498-8G>T
|
rs1242162646
|
|
NM_001134407.3(GRIN2A):c.1548G>A (p.Glu516=)
|
|
|
NM_001134407.3(GRIN2A):c.1557T>G (p.Ser519=)
|
|
|
NM_001134407.3(GRIN2A):c.1596A>G (p.Gly532=)
|
|
|
NM_001134407.3(GRIN2A):c.1602T>C (p.Ser534=)
|
rs2141342406
|
|
NM_001134407.3(GRIN2A):c.1651+11T>A
|
|
|
NM_001134407.3(GRIN2A):c.1651+13C>T
|
|
|
NM_001134407.3(GRIN2A):c.1651+14A>C
|
|
|
NM_001134407.3(GRIN2A):c.1651+14A>T
|
rs1375166103
|
|
NM_001134407.3(GRIN2A):c.1651+16A>C
|
|
|
NM_001134407.3(GRIN2A):c.1651+3G>A
|
|
|
NM_001134407.3(GRIN2A):c.1662C>T (p.Ser554=)
|
rs1596476657
|
|
NM_001134407.3(GRIN2A):c.1665C>T (p.Ala555=)
|
|
|
NM_001134407.3(GRIN2A):c.166G>A (p.Gly56Ser)
|
|
|
NM_001134407.3(GRIN2A):c.1677G>A (p.Val559=)
|
rs2141325632
|
|
NM_001134407.3(GRIN2A):c.168C>G (p.Gly56=)
|
rs748684701
|
|
NM_001134407.3(GRIN2A):c.1719T>C (p.Val573=)
|
|
|
NM_001134407.3(GRIN2A):c.1725C>T (p.Val575=)
|
|
|
NM_001134407.3(GRIN2A):c.172G>A (p.Glu58Lys)
|
rs143833346
|
|
NM_001134407.3(GRIN2A):c.1734C>T (p.Tyr578=)
|
rs1060503228
|
|
NM_001134407.3(GRIN2A):c.1737C>T (p.Phe579=)
|
rs2141325353
|
|
NM_001134407.3(GRIN2A):c.1743T>C (p.Pro581=)
|
|
|
NM_001134407.3(GRIN2A):c.1749A>G (p.Gly583=)
|
rs367543141
|
|
NM_001134407.3(GRIN2A):c.174G>A (p.Glu58=)
|
rs1432050454
|
|
NM_001134407.3(GRIN2A):c.1752C>T (p.Tyr584=)
|
|
|
NM_001134407.3(GRIN2A):c.1777+19G>C
|
|
|
NM_001134407.3(GRIN2A):c.1777+6G>T
|
rs76549675
|
|
NM_001134407.3(GRIN2A):c.1777+7G>A
|
|
|
NM_001134407.3(GRIN2A):c.1784A>G (p.His595Arg)
|
|
|
NM_001134407.3(GRIN2A):c.1815A>T (p.Ile605=)
|
|
|
NM_001134407.3(GRIN2A):c.1833G>C (p.Leu611=)
|
|
|
NM_001134407.3(GRIN2A):c.183G>A (p.Ala61=)
|
|
|
NM_001134407.3(GRIN2A):c.1893A>G (p.Val631=)
|
|
|
NM_001134407.3(GRIN2A):c.18T>C (p.Tyr6=)
|
|
|
NM_001134407.3(GRIN2A):c.1914T>A (p.Ala638=)
|
|
|
NM_001134407.3(GRIN2A):c.1929T>C (p.Ala643=)
|
rs2141312447
|
|
NM_001134407.3(GRIN2A):c.1953C>A (p.Ala651=)
|
rs1373636631
|
|
NM_001134407.3(GRIN2A):c.1962C>A (p.Ile654=)
|
|
|
NM_001134407.3(GRIN2A):c.2007+20C>G
|
rs1013909512
|
|
NM_001134407.3(GRIN2A):c.2008-13G>A
|
|
|
NM_001134407.3(GRIN2A):c.2008-18T>C
|
rs191897643
|
|
NM_001134407.3(GRIN2A):c.2008-20C>T
|
|
|
NM_001134407.3(GRIN2A):c.2008-5T>C
|
|
|
NM_001134407.3(GRIN2A):c.2027A>C (p.Tyr676Ser)
|
rs2141295127
|
|
NM_001134407.3(GRIN2A):c.2049G>C (p.Gly683=)
|
rs1057523027
|
|
NM_001134407.3(GRIN2A):c.2085G>A (p.Arg695=)
|
rs9806806
|
|
NM_001134407.3(GRIN2A):c.2134G>A (p.Gly712Arg)
|
rs1555491635
|
|
NM_001134407.3(GRIN2A):c.2149T>C (p.Leu717=)
|
rs2141294625
|
|
NM_001134407.3(GRIN2A):c.2151G>A (p.Leu717=)
|
rs1181779977
|
|
NM_001134407.3(GRIN2A):c.2166G>A (p.Thr722=)
|
|
|
NM_001134407.3(GRIN2A):c.2168+18C>T
|
|
|
NM_001134407.3(GRIN2A):c.2169-13C>G
|
|
|
NM_001134407.3(GRIN2A):c.2178C>T (p.Asp726=)
|
|
|
NM_001134407.3(GRIN2A):c.2223G>A (p.Arg741=)
|
|
|
NM_001134407.3(GRIN2A):c.2259G>C (p.Gly753=)
|
rs1282411841
|
|
NM_001134407.3(GRIN2A):c.231C>T (p.Thr77=)
|
|
|
NM_001134407.3(GRIN2A):c.2325C>T (p.Ile775=)
|
rs748291723
|
|
NM_001134407.3(GRIN2A):c.2329C>T (p.Leu777=)
|
rs1013991339
|
|
NM_001134407.3(GRIN2A):c.2337G>A (p.Leu779=)
|
|
|
NM_001134407.3(GRIN2A):c.2340T>G (p.Leu780=)
|
|
|
NM_001134407.3(GRIN2A):c.2355T>C (p.Asp785=)
|
rs1903125192
|
|
NM_001134407.3(GRIN2A):c.2356+13G>A
|
rs1006336368
|
|
NM_001134407.3(GRIN2A):c.2356+13G>C
|
|
|
NM_001134407.3(GRIN2A):c.2356+17C>T
|
|
|
NM_001134407.3(GRIN2A):c.2356+6A>T
|
rs1030132899
|
|
NM_001134407.3(GRIN2A):c.2356+9C>G
|
|
|
NM_001134407.3(GRIN2A):c.2357-17T>C
|
|
|
NM_001134407.3(GRIN2A):c.2357-19A>C
|
|
|
NM_001134407.3(GRIN2A):c.2357-4C>G
|
|
|
NM_001134407.3(GRIN2A):c.2370G>A (p.Glu790=)
|
|
|
NM_001134407.3(GRIN2A):c.2445C>T (p.Asp815=)
|
rs754929310
|
|
NM_001134407.3(GRIN2A):c.2463C>T (p.Phe821=)
|
|
|
NM_001134407.3(GRIN2A):c.2466C>T (p.Tyr822=)
|
rs2141150691
|
|
NM_001134407.3(GRIN2A):c.2475T>A (p.Ala825=)
|
|
|
NM_001134407.3(GRIN2A):c.2478C>A (p.Ala826=)
|
|
|
NM_001134407.3(GRIN2A):c.247A>G (p.Ile83Val)
|
|
|
NM_001134407.3(GRIN2A):c.2494C>T (p.Leu832Phe)
|
rs145495027
|
|
NM_001134407.3(GRIN2A):c.2517C>T (p.His839=)
|
rs769482103
|
|
NM_001134407.3(GRIN2A):c.2526C>T (p.Tyr842=)
|
|
|
NM_001134407.3(GRIN2A):c.2537G>A (p.Arg846His)
|
|
|
NM_001134407.3(GRIN2A):c.2547C>T (p.Phe849=)
|
rs758351955
|
|
NM_001134407.3(GRIN2A):c.2568G>T (p.Arg856=)
|
|
|
NM_001134407.3(GRIN2A):c.2586C>T (p.Ser862=)
|
rs2141149475
|
|
NM_001134407.3(GRIN2A):c.2592C>T (p.Ser864=)
|
|
|
NM_001134407.3(GRIN2A):c.2595+13G>A
|
|
|
NM_001134407.3(GRIN2A):c.2595+18C>A
|
|
|
NM_001134407.3(GRIN2A):c.2595+7A>G
|
|
|
NM_001134407.3(GRIN2A):c.2596-12G>C
|
|
|
NM_001134407.3(GRIN2A):c.2596-17A>G
|
|
|
NM_001134407.3(GRIN2A):c.2596-18T>C
|
|
|
NM_001134407.3(GRIN2A):c.2596-6C>T
|
|
|
NM_001134407.3(GRIN2A):c.2601C>T (p.Ile867=)
|
|
|
NM_001134407.3(GRIN2A):c.2607C>T (p.Ser869=)
|
|
|
NM_001134407.3(GRIN2A):c.2611A>G (p.Ile871Val)
|
rs927932970
|
|
NM_001134407.3(GRIN2A):c.2625C>T (p.His875=)
|
|
|
NM_001134407.3(GRIN2A):c.2626A>T (p.Ile876Phe)
|
|
|
NM_001134407.3(GRIN2A):c.2627T>A (p.Ile876Asn)
|
rs199784503
|
|
NM_001134407.3(GRIN2A):c.2627T>C (p.Ile876Thr)
|
rs199784503
|
|
NM_001134407.3(GRIN2A):c.2651A>G (p.Asp884Gly)
|
|
|
NM_001134407.3(GRIN2A):c.2661G>C (p.Leu887=)
|
|
|
NM_001134407.3(GRIN2A):c.2663C>G (p.Thr888Arg)
|
rs149698593
|
|
NM_001134407.3(GRIN2A):c.2670C>T (p.Ser890=)
|
|
|
NM_001134407.3(GRIN2A):c.2674A>G (p.Ser892Gly)
|
rs1060503229
|
|
NM_001134407.3(GRIN2A):c.2696G>C (p.Arg899Pro)
|
|
|
NM_001134407.3(GRIN2A):c.2712T>A (p.Ile904=)
|
|
|
NM_001134407.3(GRIN2A):c.2715C>T (p.Ser905=)
|
|
|
NM_001134407.3(GRIN2A):c.273C>G (p.Ser91=)
|
|
|
NM_001134407.3(GRIN2A):c.2755A>G (p.Lys919Glu)
|
rs1555482911
|
|
NM_001134407.3(GRIN2A):c.2765C>G (p.Ala922Gly)
|
rs200037904
|
|
NM_001134407.3(GRIN2A):c.2784T>G (p.Gly928=)
|
|
|
NM_001134407.3(GRIN2A):c.2790C>G (p.Leu930=)
|
rs1048008799
|
|
NM_001134407.3(GRIN2A):c.27G>A (p.Leu9=)
|
rs2142391446
|
|
NM_001134407.3(GRIN2A):c.280C>G (p.Arg94Gly)
|
rs1282664179
|
|
NM_001134407.3(GRIN2A):c.2821T>C (p.Leu941=)
|
rs1670156767
|
|
NM_001134407.3(GRIN2A):c.2838C>T (p.Asn946=)
|
|
|
NM_001134407.3(GRIN2A):c.285C>A (p.Ile95=)
|
rs756116240
|
|
NM_001134407.3(GRIN2A):c.2861G>C (p.Ser954Thr)
|
|
|
NM_001134407.3(GRIN2A):c.2862C>T (p.Ser954=)
|
|
|
NM_001134407.3(GRIN2A):c.2877C>T (p.Asn959=)
|
rs756576680
|
|
NM_001134407.3(GRIN2A):c.288C>G (p.His96Gln)
|
rs74853460
|
|
NM_001134407.3(GRIN2A):c.288C>T (p.His96=)
|
rs74853460
|
|
NM_001134407.3(GRIN2A):c.2910G>A (p.Arg970=)
|
|
|
NM_001134407.3(GRIN2A):c.2937A>G (p.Val979=)
|
rs2141135862
|
|
NM_001134407.3(GRIN2A):c.2949A>G (p.Gln983=)
|
rs2141135761
|
|
NM_001134407.3(GRIN2A):c.2958T>G (p.Leu986=)
|
rs1057522359
|
|
NM_001134407.3(GRIN2A):c.2961T>G (p.Thr987=)
|
|
|
NM_001134407.3(GRIN2A):c.2967T>C (p.Asn989=)
|
|
|
NM_001134407.3(GRIN2A):c.2970G>A (p.Glu990=)
|
rs1300708683
|
|
NM_001134407.3(GRIN2A):c.2983A>G (p.Thr995Ala)
|
rs749438401
|
|
NM_001134407.3(GRIN2A):c.2985G>C (p.Thr995=)
|
rs781646325
|
|
NM_001134407.3(GRIN2A):c.2988G>A (p.Val996=)
|
rs2141135502
|
|
NM_001134407.3(GRIN2A):c.2991G>A (p.Glu997=)
|
rs755332991
|
|
NM_001134407.3(GRIN2A):c.2995G>A (p.Ala999Thr)
|
|
|
NM_001134407.3(GRIN2A):c.2997C>G (p.Ala999=)
|
rs144706004
|
|
NM_001134407.3(GRIN2A):c.2997C>T (p.Ala999=)
|
rs144706004
|
|
NM_001134407.3(GRIN2A):c.3000G>A (p.Val1000=)
|
|
|
NM_001134407.3(GRIN2A):c.3030C>T (p.Pro1010=)
|
rs763891276
|
|
NM_001134407.3(GRIN2A):c.3032G>C (p.Arg1011Pro)
|
rs1163766811
|
|
NM_001134407.3(GRIN2A):c.3032_3033insCCT (p.Arg1011_Gln1012insLeu)
|
rs2141135194
|
|
NM_001134407.3(GRIN2A):c.3039G>T (p.Leu1013=)
|
rs577077724
|
|
NM_001134407.3(GRIN2A):c.3061A>G (p.Ile1021Val)
|
rs1181382897
|
|
NM_001134407.3(GRIN2A):c.3064C>A (p.Arg1022Ser)
|
rs560057284
|
|
NM_001134407.3(GRIN2A):c.3065G>A (p.Arg1022His)
|
|
|
NM_001134407.3(GRIN2A):c.306C>A (p.Asp102Glu)
|
|
|
NM_001134407.3(GRIN2A):c.3075A>G (p.Ser1025=)
|
|
|
NM_001134407.3(GRIN2A):c.3078A>C (p.Leu1026=)
|
|
|
NM_001134407.3(GRIN2A):c.3099G>A (p.Gln1033=)
|
|
|
NM_001134407.3(GRIN2A):c.3108G>A (p.Glu1036=)
|
rs1555482675
|
|
NM_001134407.3(GRIN2A):c.3113C>T (p.Thr1038Ile)
|
|
|
NM_001134407.3(GRIN2A):c.3129C>G (p.Thr1043=)
|
|
|
NM_001134407.3(GRIN2A):c.3132C>T (p.His1044=)
|
rs373175480
|
|
NM_001134407.3(GRIN2A):c.3153T>C (p.Tyr1051=)
|
|
|
NM_001134407.3(GRIN2A):c.315C>T (p.Asp105=)
|
|
|
NM_001134407.3(GRIN2A):c.3164A>T (p.Glu1055Val)
|
rs1900773737
|
|
NM_001134407.3(GRIN2A):c.3172C>G (p.His1058Asp)
|
|
|
NM_001134407.3(GRIN2A):c.3172C>T (p.His1058Tyr)
|
|
|
NM_001134407.3(GRIN2A):c.3196A>T (p.Asn1066Tyr)
|
|
|
NM_001134407.3(GRIN2A):c.31G>A (p.Val11Met)
|
|
|
NM_001134407.3(GRIN2A):c.3206C>T (p.Thr1069Met)
|
rs777249842
|
|
NM_001134407.3(GRIN2A):c.3207G>A (p.Thr1069=)
|
rs752560113
|
|
NM_001134407.3(GRIN2A):c.3207G>C (p.Thr1069=)
|
|
|
NM_001134407.3(GRIN2A):c.3207G>T (p.Thr1069=)
|
|
|
NM_001134407.3(GRIN2A):c.3211C>T (p.His1071Tyr)
|
rs1555482611
|
|
NM_001134407.3(GRIN2A):c.3246C>G (p.Thr1082=)
|
rs143039009
|
|
NM_001134407.3(GRIN2A):c.3246C>T (p.Thr1082=)
|
rs143039009
|
|
NM_001134407.3(GRIN2A):c.324C>T (p.Ala108=)
|
rs762110435
|
|
NM_001134407.3(GRIN2A):c.3282C>T (p.Tyr1094=)
|
rs2141133865
|
|
NM_001134407.3(GRIN2A):c.3285C>A (p.Pro1095=)
|
rs1596376404
|
|
NM_001134407.3(GRIN2A):c.3307C>T (p.Arg1103Cys)
|
rs748879665
|
|
NM_001134407.3(GRIN2A):c.3308G>T (p.Arg1103Leu)
|
rs1064796904
|
|
NM_001134407.3(GRIN2A):c.3315C>T (p.Tyr1105=)
|
|
|
NM_001134407.3(GRIN2A):c.3324C>A (p.Thr1108=)
|
|
|
NM_001134407.3(GRIN2A):c.3339T>C (p.Pro1113=)
|
rs2141133304
|
|
NM_001134407.3(GRIN2A):c.3345C>G (p.Asp1115Glu)
|
|
|
NM_001134407.3(GRIN2A):c.3345C>T (p.Asp1115=)
|
|
|
NM_001134407.3(GRIN2A):c.3357T>C (p.Thr1119=)
|
rs1596376124
|
|
NM_001134407.3(GRIN2A):c.3363T>C (p.Asp1121=)
|
|
|
NM_001134407.3(GRIN2A):c.3375G>A (p.Glu1125=)
|
|
|
NM_001134407.3(GRIN2A):c.3377C>G (p.Pro1126Arg)
|
rs1230714956
|
|
NM_001134407.3(GRIN2A):c.3384C>T (p.Phe1128=)
|
rs1596376035
|
|
NM_001134407.3(GRIN2A):c.3388T>C (p.Leu1130=)
|
|
|
NM_001134407.3(GRIN2A):c.3391G>T (p.Asp1131Tyr)
|
rs1243412120
|
|
NM_001134407.3(GRIN2A):c.33G>A (p.Val11=)
|
|
|
NM_001134407.3(GRIN2A):c.3402G>C (p.Gln1134His)
|
rs2141132634
|
|
NM_001134407.3(GRIN2A):c.3410A>T (p.Glu1137Val)
|
|
|
NM_001134407.3(GRIN2A):c.3413A>T (p.Asn1138Ile)
|
rs367543135
|
|
NM_001134407.3(GRIN2A):c.3416T>G (p.Val1139Gly)
|
|
|
NM_001134407.3(GRIN2A):c.3419C>T (p.Thr1140Ile)
|
|
|
NM_001134407.3(GRIN2A):c.3432C>A (p.Asn1144Lys)
|
|
|
NM_001134407.3(GRIN2A):c.3443C>T (p.Pro1148Leu)
|
rs140536516
|
|
NM_001134407.3(GRIN2A):c.3444G>T (p.Pro1148=)
|
|
|
NM_001134407.3(GRIN2A):c.3447C>T (p.Asp1149=)
|
rs2141132170
|
|
NM_001134407.3(GRIN2A):c.3468A>T (p.Glu1156Asp)
|
rs778180100
|
|
NM_001134407.3(GRIN2A):c.3476G>A (p.Arg1159His)
|
rs534440095
|
|
NM_001134407.3(GRIN2A):c.3476G>T (p.Arg1159Leu)
|
rs534440095
|
|
NM_001134407.3(GRIN2A):c.3483G>A (p.Gly1161=)
|
|
|
NM_001134407.3(GRIN2A):c.3492G>A (p.Thr1164=)
|
rs1330743809
|
|
NM_001134407.3(GRIN2A):c.3505C>G (p.Arg1169Gly)
|
|
|
NM_001134407.3(GRIN2A):c.3513C>T (p.Pro1171=)
|
rs1344421124
|
|
NM_001134407.3(GRIN2A):c.3531G>A (p.Gly1177=)
|
rs777800482
|
|
NM_001134407.3(GRIN2A):c.3531G>T (p.Gly1177=)
|
|
|
NM_001134407.3(GRIN2A):c.3543C>T (p.Asn1181=)
|
|
|
NM_001134407.3(GRIN2A):c.3544G>T (p.Asp1182Tyr)
|
rs375160358
|
|
NM_001134407.3(GRIN2A):c.3558C>G (p.Leu1186=)
|
|
|
NM_001134407.3(GRIN2A):c.3567G>A (p.Lys1189=)
|
|
|
NM_001134407.3(GRIN2A):c.3571T>G (p.Phe1191Val)
|
rs562833714
|
|
NM_001134407.3(GRIN2A):c.3576C>G (p.Thr1192=)
|
rs768172880
|
|
NM_001134407.3(GRIN2A):c.3597G>C (p.Pro1199=)
|
rs368418052
|
|
NM_001134407.3(GRIN2A):c.3601A>G (p.Ser1201Gly)
|
rs748338352
|
|
NM_001134407.3(GRIN2A):c.360C>T (p.Thr120=)
|
|
|
NM_001134407.3(GRIN2A):c.3616C>A (p.Arg1206=)
|
|
|
NM_001134407.3(GRIN2A):c.3621C>T (p.Tyr1207=)
|
|
|
NM_001134407.3(GRIN2A):c.3630C>T (p.Asn1210=)
|
rs750892541
|
|
NM_001134407.3(GRIN2A):c.3633C>T (p.Ser1211=)
|
|
|
NM_001134407.3(GRIN2A):c.3635C>A (p.Thr1212Lys)
|
|
|
NM_001134407.3(GRIN2A):c.363C>T (p.Phe121=)
|
|
|
NM_001134407.3(GRIN2A):c.3660C>T (p.Asn1220=)
|
rs945221421
|
|
NM_001134407.3(GRIN2A):c.3668C>G (p.Thr1223Ser)
|
rs770966136
|
|
NM_001134407.3(GRIN2A):c.3669C>T (p.Thr1223=)
|
|
|
NM_001134407.3(GRIN2A):c.366C>T (p.Val122=)
|
|
|
NM_001134407.3(GRIN2A):c.3687C>A (p.Thr1229=)
|
rs1060504863
|
|
NM_001134407.3(GRIN2A):c.369C>T (p.Pro123=)
|
rs2050228632
|
|
NM_001134407.3(GRIN2A):c.3718C>T (p.Leu1240=)
|
|
|
NM_001134407.3(GRIN2A):c.3720G>A (p.Leu1240=)
|
|
|
NM_001134407.3(GRIN2A):c.3744C>T (p.Ile1248=)
|
rs1259213207
|
|
NM_001134407.3(GRIN2A):c.3747T>C (p.Asp1249=)
|
rs2141129751
|
|
NM_001134407.3(GRIN2A):c.3753C>T (p.Asp1251=)
|
rs2141129726
|
|
NM_001134407.3(GRIN2A):c.3756G>C (p.Gln1252His)
|
|
|
NM_001134407.3(GRIN2A):c.3785C>G (p.Thr1262Ser)
|
|
|
NM_001134407.3(GRIN2A):c.3786C>G (p.Thr1262=)
|
|
|
NM_001134407.3(GRIN2A):c.3786C>T (p.Thr1262=)
|
|
|
NM_001134407.3(GRIN2A):c.3795G>A (p.Gln1265=)
|
rs147556384
|
|
NM_001134407.3(GRIN2A):c.3799T>C (p.Tyr1267His)
|
rs2141129483
|
|
NM_001134407.3(GRIN2A):c.3817C>A (p.Gln1273Lys)
|
rs762745084
|
|
NM_001134407.3(GRIN2A):c.3819G>A (p.Gln1273=)
|
rs1900707840
|
|
NM_001134407.3(GRIN2A):c.3825T>C (p.Asn1275=)
|
rs2141129262
|
|
NM_001134407.3(GRIN2A):c.3843G>A (p.Lys1281=)
|
|
|
NM_001134407.3(GRIN2A):c.3845A>G (p.Asn1282Ser)
|
|
|
NM_001134407.3(GRIN2A):c.3846C>T (p.Asn1282=)
|
rs1596374956
|
|
NM_001134407.3(GRIN2A):c.3849G>A (p.Lys1283=)
|
rs1596374942
|
|
NM_001134407.3(GRIN2A):c.3850C>T (p.Leu1284=)
|
rs1267415988
|
|
NM_001134407.3(GRIN2A):c.3854G>T (p.Arg1285Met)
|
rs367543132
|
|
NM_001134407.3(GRIN2A):c.3861C>T (p.Ser1287=)
|
rs1447951387
|
|
NM_001134407.3(GRIN2A):c.3871T>A (p.Ser1291Thr)
|
|
|
NM_001134407.3(GRIN2A):c.3872C>T (p.Ser1291Phe)
|
|
|
NM_001134407.3(GRIN2A):c.3877G>C (p.Asp1293His)
|
|
|
NM_001134407.3(GRIN2A):c.3904C>T (p.Leu1302=)
|
|
|
NM_001134407.3(GRIN2A):c.390C>T (p.Gly130=)
|
rs2142387516
|
|
NM_001134407.3(GRIN2A):c.3915C>G (p.Ser1305Arg)
|
rs199830697
|
|
NM_001134407.3(GRIN2A):c.3915C>T (p.Ser1305=)
|
rs199830697
|
|
NM_001134407.3(GRIN2A):c.3926G>T (p.Arg1309Leu)
|
rs1900699130
|
|
NM_001134407.3(GRIN2A):c.3927G>C (p.Arg1309=)
|
|
|
NM_001134407.3(GRIN2A):c.3930C>T (p.Ser1310=)
|
|
|
NM_001134407.3(GRIN2A):c.3935G>C (p.Ser1312Thr)
|
|
|
NM_001134407.3(GRIN2A):c.3939C>G (p.Leu1313=)
|
rs2141128266
|
|
NM_001134407.3(GRIN2A):c.3952C>G (p.Arg1318Gly)
|
rs774419037
|
|
NM_001134407.3(GRIN2A):c.3952C>T (p.Arg1318Trp)
|
rs774419037
|
|
NM_001134407.3(GRIN2A):c.3960G>A (p.Leu1320=)
|
|
|
NM_001134407.3(GRIN2A):c.3978C>G (p.Gly1326=)
|
rs368066766
|
|
NM_001134407.3(GRIN2A):c.3978C>T (p.Gly1326=)
|
|
|
NM_001134407.3(GRIN2A):c.397A>G (p.Met133Val)
|
rs77288930
|
|
NM_001134407.3(GRIN2A):c.3996C>A (p.Pro1332=)
|
|
|
NM_001134407.3(GRIN2A):c.4006C>T (p.Leu1336Phe)
|
|
|
NM_001134407.3(GRIN2A):c.4011G>A (p.Ser1337=)
|
rs748586367
|
|
NM_001134407.3(GRIN2A):c.4014G>A (p.Gly1338=)
|
rs61758997
|
|
NM_001134407.3(GRIN2A):c.4017A>T (p.Lys1339Asn)
|
|
|
NM_001134407.3(GRIN2A):c.4022G>T (p.Ser1341Ile)
|
rs757898035
|
|
NM_001134407.3(GRIN2A):c.4023C>G (p.Ser1341Arg)
|
|
|
NM_001134407.3(GRIN2A):c.4023C>T (p.Ser1341=)
|
|
|
NM_001134407.3(GRIN2A):c.4026C>T (p.Ser1342=)
|
|
|
NM_001134407.3(GRIN2A):c.4042C>T (p.Leu1348=)
|
|
|
NM_001134407.3(GRIN2A):c.4047G>A (p.Glu1349=)
|
|
|
NM_001134407.3(GRIN2A):c.404T>C (p.Met135Thr)
|
|
|
NM_001134407.3(GRIN2A):c.4050C>T (p.Asp1350=)
|
|
|
NM_001134407.3(GRIN2A):c.4057A>C (p.Arg1353=)
|
rs1900689042
|
|
NM_001134407.3(GRIN2A):c.4085C>G (p.Thr1362Ser)
|
|
|
NM_001134407.3(GRIN2A):c.4095C>T (p.Asn1365=)
|
|
|
NM_001134407.3(GRIN2A):c.4110C>A (p.Ser1370=)
|
rs2141126546
|
|
NM_001134407.3(GRIN2A):c.4126C>T (p.Arg1376Cys)
|
rs1426934537
|
|
NM_001134407.3(GRIN2A):c.414+15T>C
|
|
|
NM_001134407.3(GRIN2A):c.414+16G>A
|
|
|
NM_001134407.3(GRIN2A):c.414+8C>T
|
|
|
NM_001134407.3(GRIN2A):c.4140G>C (p.Gly1380=)
|
rs373901698
|
|
NM_001134407.3(GRIN2A):c.415-15T>C
|
rs1057522859
|
|
NM_001134407.3(GRIN2A):c.415-4G>T
|
rs1596345068
|
|
NM_001134407.3(GRIN2A):c.415-9C>T
|
rs747828140
|
|
NM_001134407.3(GRIN2A):c.4164A>G (p.Lys1388=)
|
|
|
NM_001134407.3(GRIN2A):c.4184C>A (p.Ala1395Glu)
|
rs199696775
|
|
NM_001134407.3(GRIN2A):c.4195A>G (p.Ser1399Gly)
|
|
|
NM_001134407.3(GRIN2A):c.4205G>C (p.Arg1402Pro)
|
rs74935155
|
|
NM_001134407.3(GRIN2A):c.4206G>T (p.Arg1402=)
|
rs2141125554
|
|
NM_001134407.3(GRIN2A):c.420G>A (p.Pro140=)
|
rs367543126
|
|
NM_001134407.3(GRIN2A):c.420G>T (p.Pro140=)
|
|
|
NM_001134407.3(GRIN2A):c.4220C>T (p.Ser1407Leu)
|
|
|
NM_001134407.3(GRIN2A):c.4223C>T (p.Thr1408Met)
|
|
|
NM_001134407.3(GRIN2A):c.422C>A (p.Thr141Lys)
|
rs78631453
|
|
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met)
|
rs78631453
|
|
NM_001134407.3(GRIN2A):c.4234T>C (p.Cys1412Arg)
|
rs1262702313
|
|
NM_001134407.3(GRIN2A):c.4247G>A (p.Ser1416Asn)
|
rs377712891
|
|
NM_001134407.3(GRIN2A):c.4247G>T (p.Ser1416Ile)
|
rs377712891
|
|
NM_001134407.3(GRIN2A):c.4252G>T (p.Gly1418Cys)
|
|
|
NM_001134407.3(GRIN2A):c.4266G>A (p.Val1422=)
|
|
|
NM_001134407.3(GRIN2A):c.4267T>G (p.Tyr1423Asp)
|
rs1900671651
|
|
NM_001134407.3(GRIN2A):c.4274C>T (p.Ser1425Leu)
|
|
|
NM_001134407.3(GRIN2A):c.42C>G (p.Ala14=)
|
rs2142391305
|
|
NM_001134407.3(GRIN2A):c.4314G>A (p.Met1438Ile)
|
|
|
NM_001134407.3(GRIN2A):c.4318T>C (p.Ser1440Pro)
|
rs1596373985
|
|
NM_001134407.3(GRIN2A):c.4323C>G (p.Thr1441=)
|
rs1246423634
|
|
NM_001134407.3(GRIN2A):c.4326C>T (p.Pro1442=)
|
|
|
NM_001134407.3(GRIN2A):c.432C>T (p.Phe144=)
|
|
|
NM_001134407.3(GRIN2A):c.4343G>A (p.Cys1448Tyr)
|
|
|
NM_001134407.3(GRIN2A):c.4356C>T (p.Arg1452=)
|
rs140093291
|
|
NM_001134407.3(GRIN2A):c.4357G>T (p.Val1453Leu)
|
|
|
NM_001134407.3(GRIN2A):c.4379T>C (p.Ile1460Thr)
|
rs1394154823
|
|
NM_001134407.3(GRIN2A):c.4380C>T (p.Ile1460=)
|
|
|
NM_001134407.3(GRIN2A):c.440T>C (p.Phe147Ser)
|
|
|
NM_001134407.3(GRIN2A):c.465C>T (p.Ala155=)
|
|
|
NM_001134407.3(GRIN2A):c.468G>C (p.Thr156=)
|
|
|
NM_001134407.3(GRIN2A):c.48G>A (p.Leu16=)
|
|
|
NM_001134407.3(GRIN2A):c.498C>T (p.Asp166=)
|
|
|
NM_001134407.3(GRIN2A):c.507C>G (p.Val169=)
|
|
|
NM_001134407.3(GRIN2A):c.522C>A (p.Thr174=)
|
rs771962690
|
|
NM_001134407.3(GRIN2A):c.531C>T (p.Phe177=)
|
rs2141632501
|
|
NM_001134407.3(GRIN2A):c.558C>T (p.Phe186=)
|
|
|
NM_001134407.3(GRIN2A):c.566C>T (p.Thr189Ile)
|
rs1377082706
|
|
NM_001134407.3(GRIN2A):c.567C>G (p.Thr189=)
|
|
|
NM_001134407.3(GRIN2A):c.579C>G (p.Asn193Lys)
|
|
|
NM_001134407.3(GRIN2A):c.595G>A (p.Asp199Asn)
|
rs1200624532
|
|
NM_001134407.3(GRIN2A):c.600G>A (p.Met200Ile)
|
|
|
NM_001134407.3(GRIN2A):c.603G>C (p.Gln201His)
|
|
|
NM_001134407.3(GRIN2A):c.609G>A (p.Val203=)
|
rs2141631974
|
|
NM_001134407.3(GRIN2A):c.616C>T (p.Leu206=)
|
|
|
NM_001134407.3(GRIN2A):c.617T>C (p.Leu206Pro)
|
rs2141631923
|
|
NM_001134407.3(GRIN2A):c.618G>A (p.Leu206=)
|
|
|
NM_001134407.3(GRIN2A):c.61C>G (p.Pro21Ala)
|
rs1285592726
|
|
NM_001134407.3(GRIN2A):c.629T>C (p.Phe210Ser)
|
|
|
NM_001134407.3(GRIN2A):c.633G>C (p.Glu211Asp)
|
rs771580780
|
|
NM_001134407.3(GRIN2A):c.63G>C (p.Pro21=)
|
rs1060504865
|
|
NM_001134407.3(GRIN2A):c.668A>T (p.His223Leu)
|
rs2044764460
|
|
NM_001134407.3(GRIN2A):c.67_81del (p.Pro23_Ala27del)
|
rs775540481
|
|
NM_001134407.3(GRIN2A):c.681C>A (p.Ile227=)
|
rs2141631520
|
|
NM_001134407.3(GRIN2A):c.685C>G (p.Leu229Val)
|
|
|
NM_001134407.3(GRIN2A):c.69G>A (p.Pro23=)
|
|
|
NM_001134407.3(GRIN2A):c.720G>A (p.Leu240=)
|
rs1041367014
|
|
NM_001134407.3(GRIN2A):c.720G>C (p.Leu240=)
|
|
|
NM_001134407.3(GRIN2A):c.750G>C (p.Gly250=)
|
|
|
NM_001134407.3(GRIN2A):c.777C>T (p.Ser259=)
|
|
|
NM_001134407.3(GRIN2A):c.794C>T (p.Thr265Met)
|
rs747214620
|
|
NM_001134407.3(GRIN2A):c.799C>A (p.Leu267Ile)
|
rs780286303
|
|
NM_001134407.3(GRIN2A):c.822G>A (p.Ser274=)
|
rs759344136
|
|
NM_001134407.3(GRIN2A):c.828C>G (p.Leu276=)
|
rs752295285
|
|
NM_001134407.3(GRIN2A):c.846T>C (p.Asp282=)
|
rs2141630353
|
|
NM_001134407.3(GRIN2A):c.849C>T (p.Asp283=)
|
|
|
NM_001134407.3(GRIN2A):c.858C>T (p.Tyr286=)
|
|
|
NM_001134407.3(GRIN2A):c.861C>T (p.Ser287=)
|
|
|
NM_001134407.3(GRIN2A):c.879G>A (p.Arg293=)
|
rs2141630122
|
|
NM_001134407.3(GRIN2A):c.90T>C (p.Gly30=)
|
rs1204355370
|
|
NM_001134407.3(GRIN2A):c.916A>G (p.Met306Val)
|
|
|
NM_001134407.3(GRIN2A):c.916A>T (p.Met306Leu)
|
rs778386295
|
|
NM_001134407.3(GRIN2A):c.926A>G (p.Lys309Arg)
|
|
|
NM_001134407.3(GRIN2A):c.927G>A (p.Lys309=)
|
|
|
NM_001134407.3(GRIN2A):c.933C>T (p.Ser311=)
|
|
|
NM_001134407.3(GRIN2A):c.93C>T (p.Pro31=)
|
|
|
NM_001134407.3(GRIN2A):c.94C>T (p.Pro32Ser)
|
|
|
NM_001134407.3(GRIN2A):c.954C>G (p.Ala318=)
|
rs2044755576
|
|
NM_001134407.3(GRIN2A):c.960C>T (p.Cys320=)
|
|
|
NM_001134407.3(GRIN2A):c.96C>A (p.Pro32=)
|
|
|
NM_001134407.3(GRIN2A):c.979C>A (p.Pro327Thr)
|
|
|
NM_001134407.3(GRIN2A):c.982G>C (p.Glu328Gln)
|
rs1300381776
|
|
NM_001134407.3(GRIN2A):c.984G>A (p.Glu328=)
|
|
|
NM_001161352.2(KCNMA1):c.1044C>T (p.Val348=)
|
|
|
NM_001161352.2(KCNMA1):c.105C>T (p.Ser35=)
|
|
|
NM_001161352.2(KCNMA1):c.1077T>C (p.Tyr359=)
|
|
|
NM_001161352.2(KCNMA1):c.1086C>T (p.Thr362=)
|
rs1564595933
|
|
NM_001161352.2(KCNMA1):c.1089A>C (p.Thr363=)
|
|
|
NM_001161352.2(KCNMA1):c.111C>T (p.Asp37=)
|
|
|
NM_001161352.2(KCNMA1):c.1131+11A>G
|
|
|
NM_001161352.2(KCNMA1):c.1131+20A>G
|
|
|
NM_001161352.2(KCNMA1):c.1134C>T (p.Ala378=)
|
|
|
NM_001161352.2(KCNMA1):c.1149C>T (p.Tyr383=)
|
|
|
NM_001161352.2(KCNMA1):c.1161C>A (p.Ile387=)
|
|
|
NM_001161352.2(KCNMA1):c.1161C>T (p.Ile387=)
|
|
|
NM_001161352.2(KCNMA1):c.117C>T (p.Ser39=)
|
rs2154572156
|
|
NM_001161352.2(KCNMA1):c.117CTC[5] (p.Ser59_Ser60del)
|
rs572827902
|
|
NM_001161352.2(KCNMA1):c.117CTC[6] (p.Ser60del)
|
rs572827902
|
|
NM_001161352.2(KCNMA1):c.1197C>T (p.Gly399=)
|
rs2153860930
|
|
NM_001161352.2(KCNMA1):c.1223+17G>A
|
rs753635312
|
|
NM_001161352.2(KCNMA1):c.1224-13C>G
|
rs758586089
|
|
NM_001161352.2(KCNMA1):c.1224-15G>A
|
|
|
NM_001161352.2(KCNMA1):c.1245C>T (p.His415=)
|
|
|
NM_001161352.2(KCNMA1):c.1260T>C (p.Ser420=)
|
|
|
NM_001161352.2(KCNMA1):c.1266C>T (p.Ser422=)
|
|
|
NM_001161352.2(KCNMA1):c.1297C>A (p.Arg433=)
|
|
|
NM_001161352.2(KCNMA1):c.1311T>C (p.Asn437=)
|
rs1182112018
|
|
NM_001161352.2(KCNMA1):c.1334+16T>A
|
|
|
NM_001161352.2(KCNMA1):c.1334+19T>C
|
|
|
NM_001161352.2(KCNMA1):c.1335-14C>G
|
rs781038538
|
|
NM_001161352.2(KCNMA1):c.1335-6G>C
|
|
|
NM_001161352.2(KCNMA1):c.1344C>T (p.Pro448=)
|
|
|
NM_001161352.2(KCNMA1):c.135CTCTTC[1] (p.Ser59_Ser60del)
|
rs770298470
|
|
NM_001161352.2(KCNMA1):c.1377T>C (p.His459=)
|
|
|
NM_001161352.2(KCNMA1):c.1440+16T>C
|
|
|
NM_001161352.2(KCNMA1):c.1441-15C>A
|
rs78005259
|
|
NM_001161352.2(KCNMA1):c.1441-6T>C
|
|
|
NM_001161352.2(KCNMA1):c.1441-7G>A
|
|
|
NM_001161352.2(KCNMA1):c.1441-9G>A
|
|
|
NM_001161352.2(KCNMA1):c.1449A>G (p.Ser483=)
|
|
|
NM_001161352.2(KCNMA1):c.144TTC[2] (p.Ser59_Ser60del)
|
rs751901610
|
|
NM_001161352.2(KCNMA1):c.1458A>G (p.Ala486=)
|
rs2153752272
|
|
NM_001161352.2(KCNMA1):c.1461C>T (p.Cys487=)
|
|
|
NM_001161352.2(KCNMA1):c.1467C>A (p.Ile489=)
|
|
|
NM_001161352.2(KCNMA1):c.1470T>C (p.Leu490=)
|
rs1341608381
|
|
NM_001161352.2(KCNMA1):c.1509C>T (p.Ala503=)
|
rs1595618592
|
|
NM_001161352.2(KCNMA1):c.1512G>A (p.Ser504=)
|
|
|
NM_001161352.2(KCNMA1):c.1512G>C (p.Ser504=)
|
|
|
NM_001161352.2(KCNMA1):c.1523+12G>C
|
|
|
NM_001161352.2(KCNMA1):c.1523+20G>A
|
|
|
NM_001161352.2(KCNMA1):c.1523+7C>T
|
rs2096653390
|
|
NM_001161352.2(KCNMA1):c.1524-16G>A
|
|
|
NM_001161352.2(KCNMA1):c.1524-19T>C
|
rs1157653900
|
|
NM_001161352.2(KCNMA1):c.1524-20A>G
|
|
|
NM_001161352.2(KCNMA1):c.1527A>T (p.Val509=)
|
|
|
NM_001161352.2(KCNMA1):c.153T>C (p.Ser51=)
|
rs200164685
|
|
NM_001161352.2(KCNMA1):c.156CTC[2] (p.Ser60del)
|
rs778736171
|
|
NM_001161352.2(KCNMA1):c.1593+10C>T
|
rs200770082
|
|
NM_001161352.2(KCNMA1):c.1593+11G>A
|
|
|
NM_001161352.2(KCNMA1):c.1593+17C>T
|
|
|
NM_001161352.2(KCNMA1):c.1593+19G>T
|
|
|
NM_001161352.2(KCNMA1):c.1593+7G>A
|
rs2153733001
|
|
NM_001161352.2(KCNMA1):c.1593+9G>A
|
|
|
NM_001161352.2(KCNMA1):c.1596C>G (p.Ala532=)
|
|
|
NM_001161352.2(KCNMA1):c.1600C>T (p.Leu534=)
|
|
|
NM_001161352.2(KCNMA1):c.1614G>C (p.Pro538=)
|
rs368568833
|
|
NM_001161352.2(KCNMA1):c.1635T>C (p.Gly545=)
|
rs112967315
|
|
NM_001161352.2(KCNMA1):c.1650C>T (p.Cys550=)
|
|
|
NM_001161352.2(KCNMA1):c.1653C>G (p.Leu551=)
|
|
|
NM_001161352.2(KCNMA1):c.1660T>C (p.Leu554=)
|
rs2153710236
|
|
NM_001161352.2(KCNMA1):c.1701C>T (p.Gly567=)
|
rs746337315
|
|
NM_001161352.2(KCNMA1):c.171C>T (p.Ser57=)
|
|
|
NM_001161352.2(KCNMA1):c.1725C>T (p.Leu575=)
|
|
|
NM_001161352.2(KCNMA1):c.1750-12C>G
|
|
|
NM_001161352.2(KCNMA1):c.1750-15_1750-14del
|
rs2153579451
|
|
NM_001161352.2(KCNMA1):c.1806C>T (p.Tyr602=)
|
|
|
NM_001161352.2(KCNMA1):c.180G>C (p.Ser60=)
|
|
|
NM_001161352.2(KCNMA1):c.1830C>T (p.Phe610=)
|
|
|
NM_001161352.2(KCNMA1):c.1848T>C (p.Pro616=)
|
|
|
NM_001161352.2(KCNMA1):c.1859+10C>G
|
rs1223763211
|
|
NM_001161352.2(KCNMA1):c.1859+9C>A
|
rs368765573
|
|
NM_001161352.2(KCNMA1):c.1859+9C>T
|
rs368765573
|
|
NM_001161352.2(KCNMA1):c.1860-12A>G
|
|
|
NM_001161352.2(KCNMA1):c.1860-14C>G
|
|
|
NM_001161352.2(KCNMA1):c.1860-20G>C
|
|
|
NM_001161352.2(KCNMA1):c.1860-20G>T
|
rs200414751
|
|
NM_001161352.2(KCNMA1):c.1860-7A>G
|
rs766701400
|
|
NM_001161352.2(KCNMA1):c.186C>T (p.His62=)
|
|
|
NM_001161352.2(KCNMA1):c.1928+10_1928+11insT
|
|
|
NM_001161352.2(KCNMA1):c.1928+11G>A
|
rs74476254
|
|
NM_001161352.2(KCNMA1):c.1928+11G>C
|
rs74476254
|
|
NM_001161352.2(KCNMA1):c.1928+19A>G
|
|
|
NM_001161352.2(KCNMA1):c.1928+8T>C
|
rs2153527182
|
|
NM_001161352.2(KCNMA1):c.1928+9G>T
|
|
|
NM_001161352.2(KCNMA1):c.1929-19_1929-16del
|
rs764751316
|
|
NM_001161352.2(KCNMA1):c.1932A>T (p.Ile644=)
|
|
|
NM_001161352.2(KCNMA1):c.1962C>T (p.Ile654=)
|
|
|
NM_001161352.2(KCNMA1):c.1965A>G (p.Gln655=)
|
rs1388398269
|
|
NM_001161352.2(KCNMA1):c.1989C>T (p.Ile663=)
|
rs201919794
|
|
NM_001161352.2(KCNMA1):c.2015+10T>C
|
rs2153480701
|
|
NM_001161352.2(KCNMA1):c.2015+20T>C
|
|
|
NM_001161352.2(KCNMA1):c.2016-15A>G
|
rs2090892143
|
|
NM_001161352.2(KCNMA1):c.2019A>G (p.Ala673=)
|
rs1266870482
|
|
NM_001161352.2(KCNMA1):c.2034G>A (p.Lys678=)
|
|
|
NM_001161352.2(KCNMA1):c.204G>T (p.Ala68=)
|
|
|
NM_001161352.2(KCNMA1):c.2070A>T (p.Ile690=)
|
rs368366851
|
|
NM_001161352.2(KCNMA1):c.207C>G (p.Leu69=)
|
rs780686705
|
|
NM_001161352.2(KCNMA1):c.207C>T (p.Leu69=)
|
rs780686705
|
|
NM_001161352.2(KCNMA1):c.2092+10G>A
|
|
|
NM_001161352.2(KCNMA1):c.2092+11T>A
|
|
|
NM_001161352.2(KCNMA1):c.2092+20C>T
|
rs2153454081
|
|
NM_001161352.2(KCNMA1):c.2267-10G>A
|
|
|
NM_001161352.2(KCNMA1):c.2267-10G>C
|
rs202075749
|
|
NM_001161352.2(KCNMA1):c.2267-14G>T
|
|
|
NM_001161352.2(KCNMA1):c.2267-19G>A
|
rs2153159644
|
|
NM_001161352.2(KCNMA1):c.2267-8A>G
|
|
|
NM_001161352.2(KCNMA1):c.2289A>G (p.Thr763=)
|
|
|
NM_001161352.2(KCNMA1):c.228G>A (p.Glu76=)
|
|
|
NM_001161352.2(KCNMA1):c.2316T>C (p.Asn772=)
|
rs778997353
|
|
NM_001161352.2(KCNMA1):c.2326C>A (p.Arg776=)
|
|
|
NM_001161352.2(KCNMA1):c.2337C>T (p.Pro779=)
|
|
|
NM_001161352.2(KCNMA1):c.234G>A (p.Pro78=)
|
rs1027255936
|
|
NM_001161352.2(KCNMA1):c.2360+11G>A
|
|
|
NM_001161352.2(KCNMA1):c.2360+13G>T
|
|
|
NM_001161352.2(KCNMA1):c.2361-13C>A
|
|
|
NM_001161352.2(KCNMA1):c.2361-8C>G
|
|
|
NM_001161352.2(KCNMA1):c.2373G>A (p.Leu791=)
|
|
|
NM_001161352.2(KCNMA1):c.2376A>G (p.Leu792=)
|
rs2152988903
|
|
NM_001161352.2(KCNMA1):c.243C>T (p.Ser81=)
|
|
|
NM_001161352.2(KCNMA1):c.2460C>A (p.Pro820=)
|
|
|
NM_001161352.2(KCNMA1):c.2481C>A (p.Ile827=)
|
|
|
NM_001161352.2(KCNMA1):c.2484+20T>C
|
rs1167442087
|
|
NM_001161352.2(KCNMA1):c.2485-11C>T
|
|
|
NM_001161352.2(KCNMA1):c.2485-19C>G
|
|
|
NM_001161352.2(KCNMA1):c.2485-6T>C
|
rs2152944830
|
|
NM_001161352.2(KCNMA1):c.2487T>G (p.Thr829=)
|
|
|
NM_001161352.2(KCNMA1):c.2508C>A (p.Thr836=)
|
rs145100005
|
|
NM_001161352.2(KCNMA1):c.2523T>C (p.His841=)
|
|
|
NM_001161352.2(KCNMA1):c.2550C>T (p.Val850=)
|
|
|
NM_001161352.2(KCNMA1):c.2553C>T (p.Ser851=)
|
|
|
NM_001161352.2(KCNMA1):c.2556A>G (p.Ser852=)
|
|
|
NM_001161352.2(KCNMA1):c.2559C>G (p.Ala853=)
|
|
|
NM_001161352.2(KCNMA1):c.2568C>T (p.Gly856=)
|
|
|
NM_001161352.2(KCNMA1):c.2580G>A (p.Leu860=)
|
|
|
NM_001161352.2(KCNMA1):c.2583G>A (p.Val861=)
|
|
|
NM_001161352.2(KCNMA1):c.2649T>C (p.Ile883=)
|
|
|
NM_001161352.2(KCNMA1):c.2662C>A (p.Arg888=)
|
rs763848235
|
|
NM_001161352.2(KCNMA1):c.2706G>A (p.Leu902=)
|
|
|
NM_001161352.2(KCNMA1):c.2709+10A>G
|
|
|
NM_001161352.2(KCNMA1):c.2709+17A>G
|
|
|
NM_001161352.2(KCNMA1):c.2710-12T>G
|
|
|
NM_001161352.2(KCNMA1):c.2710-14C>T
|
|
|
NM_001161352.2(KCNMA1):c.2710-17T>C
|
|
|
NM_001161352.2(KCNMA1):c.2737A>C (p.Arg913=)
|
rs1039986904
|
|
NM_001161352.2(KCNMA1):c.2751C>T (p.Ile917=)
|
|
|
NM_001161352.2(KCNMA1):c.2799T>C (p.Ile933=)
|
rs2152885437
|
|
NM_001161352.2(KCNMA1):c.2802T>C (p.Asp934=)
|
|
|
NM_001161352.2(KCNMA1):c.2814G>T (p.Leu938=)
|
rs1591526352
|
|
NM_001161352.2(KCNMA1):c.2820C>T (p.Asp940=)
|
|
|
NM_001161352.2(KCNMA1):c.282C>T (p.Ser94=)
|
|
|
NM_001161352.2(KCNMA1):c.2856T>C (p.Ser952=)
|
|
|
NM_001161352.2(KCNMA1):c.2868T>C (p.Asp956=)
|
|
|
NM_001161352.2(KCNMA1):c.2880A>C (p.Gly960=)
|
|
|
NM_001161352.2(KCNMA1):c.2898C>T (p.Ser966=)
|
rs2152884640
|
|
NM_001161352.2(KCNMA1):c.2902+10G>C
|
rs1405354082
|
|
NM_001161352.2(KCNMA1):c.2902+11C>A
|
rs375408967
|
|
NM_001161352.2(KCNMA1):c.2902+11C>T
|
|
|
NM_001161352.2(KCNMA1):c.2902+18T>C
|
|
|
NM_001161352.2(KCNMA1):c.2902+19A>G
|
|
|
NM_001161352.2(KCNMA1):c.2902+7A>G
|
rs200812545
|
|
NM_001161352.2(KCNMA1):c.2903-11C>T
|
|
|
NM_001161352.2(KCNMA1):c.2903-4C>T
|
|
|
NM_001161352.2(KCNMA1):c.2903-5A>C
|
rs2152436104
|
|
NM_001161352.2(KCNMA1):c.2943C>T (p.Asn981=)
|
|
|
NM_001161352.2(KCNMA1):c.297C>T (p.Phe99=)
|
|
|
NM_001161352.2(KCNMA1):c.2988G>A (p.Gly996=)
|
|
|
NM_001161352.2(KCNMA1):c.300G>A (p.Gly100=)
|
|
|
NM_001161352.2(KCNMA1):c.300G>C (p.Gly100=)
|
rs376723692
|
|
NM_001161352.2(KCNMA1):c.3013C>T (p.Leu1005=)
|
|
|
NM_001161352.2(KCNMA1):c.3016+10A>G
|
|
|
NM_001161352.2(KCNMA1):c.3016+17G>C
|
|
|
NM_001161352.2(KCNMA1):c.3016+18C>T
|
|
|
NM_001161352.2(KCNMA1):c.3016+9C>A
|
rs573678568
|
|
NM_001161352.2(KCNMA1):c.3017-19T>G
|
|
|
NM_001161352.2(KCNMA1):c.3017-9T>C
|
|
|
NM_001161352.2(KCNMA1):c.3030T>C (p.Asn1010=)
|
rs1590247904
|
|
NM_001161352.2(KCNMA1):c.3054T>C (p.Asp1018=)
|
|
|
NM_001161352.2(KCNMA1):c.3066T>C (p.Pro1022=)
|
|
|
NM_001161352.2(KCNMA1):c.3087G>T (p.Thr1029=)
|
rs200151850
|
|
NM_001161352.2(KCNMA1):c.3093C>G (p.Pro1031=)
|
rs777115771
|
|
NM_001161352.2(KCNMA1):c.3117C>G (p.Ala1039=)
|
rs544106405
|
|
NM_001161352.2(KCNMA1):c.3123T>C (p.Ser1041=)
|
|
|
NM_001161352.2(KCNMA1):c.3138C>T (p.Leu1046=)
|
rs766964098
|
|
NM_001161352.2(KCNMA1):c.3147+13G>T
|
|
|
NM_001161352.2(KCNMA1):c.3147+19T>C
|
|
|
NM_001161352.2(KCNMA1):c.3147+20C>A
|
|
|
NM_001161352.2(KCNMA1):c.3148-10C>G
|
|
|
NM_001161352.2(KCNMA1):c.3148-17T>C
|
|
|
NM_001161352.2(KCNMA1):c.3156C>T (p.Phe1052=)
|
|
|
NM_001161352.2(KCNMA1):c.3175C>T (p.Leu1059=)
|
|
|
NM_001161352.2(KCNMA1):c.3177G>C (p.Leu1059=)
|
|
|
NM_001161352.2(KCNMA1):c.3186C>G (p.Thr1062=)
|
rs2151874552
|
|
NM_001161352.2(KCNMA1):c.3192G>A (p.Val1064=)
|
|
|
NM_001161352.2(KCNMA1):c.3192G>C (p.Val1064=)
|
|
|
NM_001161352.2(KCNMA1):c.327G>T (p.Arg109=)
|
rs762760539
|
|
NM_001161352.2(KCNMA1):c.3282T>C (p.Asn1094=)
|
|
|
NM_001161352.2(KCNMA1):c.3306G>A (p.Gln1102=)
|
rs1253872471
|
|
NM_001161352.2(KCNMA1):c.3342+11A>G
|
|
|
NM_001161352.2(KCNMA1):c.3342+20G>T
|
|
|
NM_001161352.2(KCNMA1):c.3342+8C>T
|
|
|
NM_001161352.2(KCNMA1):c.3343-15T>G
|
|
|
NM_001161352.2(KCNMA1):c.3345T>C (p.Asp1115=)
|
|
|
NM_001161352.2(KCNMA1):c.336G>A (p.Lys112=)
|
|
|
NM_001161352.2(KCNMA1):c.3420G>A (p.Leu1140=)
|
rs781323146
|
|
NM_001161352.2(KCNMA1):c.3435C>G (p.Leu1145=)
|
rs1449275813
|
|
NM_001161352.2(KCNMA1):c.3441C>G (p.Thr1147=)
|
rs765051720
|
|
NM_001161352.2(KCNMA1):c.3461+17A>C
|
rs1442317817
|
|
NM_001161352.2(KCNMA1):c.3462-9C>T
|
|
|
NM_001161352.2(KCNMA1):c.3480G>A (p.Pro1160=)
|
rs202172473
|
|
NM_001161352.2(KCNMA1):c.3480G>T (p.Pro1160=)
|
|
|
NM_001161352.2(KCNMA1):c.348C>A (p.Thr116=)
|
rs200178895
|
|
NM_001161352.2(KCNMA1):c.3492T>C (p.Phe1164=)
|
|
|
NM_001161352.2(KCNMA1):c.3498C>T (p.Leu1166=)
|
|
|
NM_001161352.2(KCNMA1):c.3549C>T (p.Gly1183=)
|
|
|
NM_001161352.2(KCNMA1):c.354C>T (p.Cys118=)
|
rs746678754
|
|
NM_001161352.2(KCNMA1):c.3585G>A (p.Ser1195=)
|
|
|
NM_001161352.2(KCNMA1):c.3588G>T (p.Ser1196=)
|
|
|
NM_001161352.2(KCNMA1):c.3603G>A (p.Lys1201=)
|
|
|
NM_001161352.2(KCNMA1):c.3621C>T (p.His1207=)
|
rs1589550559
|
|
NM_001161352.2(KCNMA1):c.3630A>G (p.Pro1210=)
|
|
|
NM_001161352.2(KCNMA1):c.3633C>T (p.Ser1211=)
|
|
|
NM_001161352.2(KCNMA1):c.3690C>T (p.Tyr1230=)
|
rs199569326
|
|
NM_001161352.2(KCNMA1):c.3693G>T (p.Val1231=)
|
|
|
NM_001161352.2(KCNMA1):c.3697G>A (p.Glu1233Lys)
|
rs779739159
|
|
NM_001161352.2(KCNMA1):c.378+10G>A
|
|
|
NM_001161352.2(KCNMA1):c.378+15G>T
|
|
|
NM_001161352.2(KCNMA1):c.378+8G>A
|
|
|
NM_001161352.2(KCNMA1):c.379-12C>G
|
rs200550652
|
|
NM_001161352.2(KCNMA1):c.379-16C>T
|
|
|
NM_001161352.2(KCNMA1):c.384C>T (p.Ala128=)
|
|
|
NM_001161352.2(KCNMA1):c.399T>C (p.Asn133=)
|
rs767525618
|
|
NM_001161352.2(KCNMA1):c.432A>C (p.Pro144=)
|
|
|
NM_001161352.2(KCNMA1):c.450G>A (p.Glu150=)
|
|
|
NM_001161352.2(KCNMA1):c.468C>G (p.Val156=)
|
|
|
NM_001161352.2(KCNMA1):c.504G>A (p.Val168=)
|
rs2154465069
|
|
NM_001161352.2(KCNMA1):c.51C>T (p.Gly17=)
|
rs2093897739
|
|
NM_001161352.2(KCNMA1):c.537C>T (p.Val179=)
|
rs1429736923
|
|
NM_001161352.2(KCNMA1):c.540+16C>A
|
|
|
NM_001161352.2(KCNMA1):c.541-13T>A
|
|
|
NM_001161352.2(KCNMA1):c.541-14_541-12del
|
rs767470741
|
|
NM_001161352.2(KCNMA1):c.543T>C (p.Val181=)
|
|
|
NM_001161352.2(KCNMA1):c.54C>G (p.Gly18=)
|
|
|
NM_001161352.2(KCNMA1):c.558T>C (p.Ala186=)
|
rs1600047695
|
|
NM_001161352.2(KCNMA1):c.602+12634G>C
|
|
|
NM_001161352.2(KCNMA1):c.602+17A>G
|
|
|
NM_001161352.2(KCNMA1):c.603-6T>C
|
rs201637862
|
|
NM_001161352.2(KCNMA1):c.603-9_603-6del
|
rs761537725
|
|
NM_001161352.2(KCNMA1):c.690C>G (p.Gly230=)
|
rs1467313801
|
|
NM_001161352.2(KCNMA1):c.696+11G>A
|
|
|
NM_001161352.2(KCNMA1):c.696+13A>G
|
rs551077112
|
|
NM_001161352.2(KCNMA1):c.696+16A>G
|
|
|
NM_001161352.2(KCNMA1):c.696+17T>C
|
rs2154127662
|
|
NM_001161352.2(KCNMA1):c.697-18A>G
|
|
|
NM_001161352.2(KCNMA1):c.697-6C>T
|
rs2098819163
|
|
NM_001161352.2(KCNMA1):c.718T>C (p.Leu240=)
|
|
|
NM_001161352.2(KCNMA1):c.726C>T (p.Phe242=)
|
|
|
NM_001161352.2(KCNMA1):c.735A>G (p.Glu245=)
|
|
|
NM_001161352.2(KCNMA1):c.741C>T (p.Asn247=)
|
|
|
NM_001161352.2(KCNMA1):c.744T>C (p.Ser248=)
|
|
|
NM_001161352.2(KCNMA1):c.747A>G (p.Val249=)
|
rs375991485
|
|
NM_001161352.2(KCNMA1):c.765G>C (p.Val255=)
|
|
|
NM_001161352.2(KCNMA1):c.768C>T (p.Pro256=)
|
|
|
NM_001161352.2(KCNMA1):c.786G>A (p.Val262=)
|
|
|
NM_001161352.2(KCNMA1):c.808+10C>G
|
rs2154124730
|
|
NM_001161352.2(KCNMA1):c.808+11CT[2]
|
rs2154124723
|
|
NM_001161352.2(KCNMA1):c.809-4C>G
|
|
|
NM_001161352.2(KCNMA1):c.809-5dup
|
|
|
NM_001161352.2(KCNMA1):c.831G>C (p.Leu277=)
|
|
|
NM_001161352.2(KCNMA1):c.85A>T (p.Ile29Phe)
|
|
|
NM_001161352.2(KCNMA1):c.884+13T>C
|
|
|
NM_001161352.2(KCNMA1):c.885-16G>A
|
|
|
NM_001161352.2(KCNMA1):c.885-20G>C
|
|
|
NM_001161352.2(KCNMA1):c.885-4A>G
|
|
|
NM_001161352.2(KCNMA1):c.891C>T (p.Ser297=)
|
|
|
NM_001161352.2(KCNMA1):c.894C>T (p.Ile298=)
|
rs80332184
|
|
NM_001161352.2(KCNMA1):c.897G>A (p.Lys299=)
|
|
|
NM_001161352.2(KCNMA1):c.900G>A (p.Leu300=)
|
rs2153889736
|
|
NM_001161352.2(KCNMA1):c.90C>A (p.His30Gln)
|
rs75040504
|
|
NM_001161352.2(KCNMA1):c.92C>T (p.Ala31Val)
|
rs201551432
|
|
NM_001161352.2(KCNMA1):c.958T>C (p.Leu320=)
|
|
|
NM_001161352.2(KCNMA1):c.961-17T>C
|
|
|
NM_001161352.2(KCNMA1):c.972A>G (p.Ser324=)
|
|
|
NM_001161352.2(KCNMA1):c.993C>T (p.Phe331=)
|
rs1596161285
|
|
NM_001161352.2(KCNMA1):c.996A>G (p.Gln332=)
|
|
|
NM_001242896.3(DEPDC5):c.1054C>T (p.Leu352=)
|
rs753373012
|
|
NM_001242896.3(DEPDC5):c.1081+18G>A
|
|
|
NM_001242896.3(DEPDC5):c.1082-11T>C
|
|
|
NM_001242896.3(DEPDC5):c.1082-6T>C
|
rs2148649145
|
|
NM_001242896.3(DEPDC5):c.1082-8T>G
|
rs890092330
|
|
NM_001242896.3(DEPDC5):c.1101G>A (p.Val367=)
|
|
|
NM_001242896.3(DEPDC5):c.1143+13C>A
|
|
|
NM_001242896.3(DEPDC5):c.1143+13C>T
|
|
|
NM_001242896.3(DEPDC5):c.1143+14G>A
|
|
|
NM_001242896.3(DEPDC5):c.1143+16A>G
|
|
|
NM_001242896.3(DEPDC5):c.1144-19C>G
|
|
|
NM_001242896.3(DEPDC5):c.1144-9T>G
|
|
|
NM_001242896.3(DEPDC5):c.1191T>C (p.Tyr397=)
|
rs1320510912
|
|
NM_001242896.3(DEPDC5):c.1209A>T (p.Ile403=)
|
rs2148656425
|
|
NM_001242896.3(DEPDC5):c.1215C>T (p.His405=)
|
|
|
NM_001242896.3(DEPDC5):c.1217+14C>G
|
rs368665888
|
|
NM_001242896.3(DEPDC5):c.1217+14C>T
|
rs368665888
|
|
NM_001242896.3(DEPDC5):c.1217+7G>A
|
|
|
NM_001242896.3(DEPDC5):c.1217+8C>A
|
rs754150372
|
|
NM_001242896.3(DEPDC5):c.1217+8C>T
|
|
|
NM_001242896.3(DEPDC5):c.1217+9G>A
|
|
|
NM_001242896.3(DEPDC5):c.1218-13G>A
|
|
|
NM_001242896.3(DEPDC5):c.1218-14T>G
|
|
|
NM_001242896.3(DEPDC5):c.1245T>C (p.Phe415=)
|
rs1555880783
|
|
NM_001242896.3(DEPDC5):c.1287+12T>C
|
rs2148665886
|
|
NM_001242896.3(DEPDC5):c.1287+16T>G
|
|
|
NM_001242896.3(DEPDC5):c.1287+19T>G
|
rs2148665931
|
|
NM_001242896.3(DEPDC5):c.1288-14A>G
|
|
|
NM_001242896.3(DEPDC5):c.1311T>C (p.Asn437=)
|
rs2148698840
|
|
NM_001242896.3(DEPDC5):c.1317T>C (p.Arg439=)
|
rs2148698922
|
|
NM_001242896.3(DEPDC5):c.1324+20T>C
|
|
|
NM_001242896.3(DEPDC5):c.1365C>T (p.Ile455=)
|
rs773296785
|
|
NM_001242896.3(DEPDC5):c.1383C>T (p.Ala461=)
|
|
|
NM_001242896.3(DEPDC5):c.138T>C (p.Asp46=)
|
|
|
NM_001242896.3(DEPDC5):c.1398G>A (p.Val466=)
|
rs1602054069
|
|
NM_001242896.3(DEPDC5):c.1398G>C (p.Val466=)
|
rs1602054069
|
|
NM_001242896.3(DEPDC5):c.1422G>A (p.Arg474=)
|
|
|
NM_001242896.3(DEPDC5):c.1425C>T (p.Ala475=)
|
|
|
NM_001242896.3(DEPDC5):c.1445+12G>C
|
|
|
NM_001242896.3(DEPDC5):c.1445+16C>G
|
|
|
NM_001242896.3(DEPDC5):c.1445+17A>G
|
|
|
NM_001242896.3(DEPDC5):c.1445+19T>C
|
|
|
NM_001242896.3(DEPDC5):c.1446-12C>T
|
|
|
NM_001242896.3(DEPDC5):c.1446-13T>C
|
|
|
NM_001242896.3(DEPDC5):c.1449T>C (p.Ser483=)
|
rs1461464062
|
|
NM_001242896.3(DEPDC5):c.146+18T>C
|
rs2147992268
|
|
NM_001242896.3(DEPDC5):c.146+20C>T
|
|
|
NM_001242896.3(DEPDC5):c.146+7G>A
|
|
|
NM_001242896.3(DEPDC5):c.146+9C>G
|
rs771997222
|
|
NM_001242896.3(DEPDC5):c.146+9C>T
|
|
|
NM_001242896.3(DEPDC5):c.147-10T>G
|
rs1168103303
|
|
NM_001242896.3(DEPDC5):c.147-17G>A
|
|
|
NM_001242896.3(DEPDC5):c.147-9_147-6del
|
rs2148027104
|
|
NM_001242896.3(DEPDC5):c.1470C>T (p.His490=)
|
|
|
NM_001242896.3(DEPDC5):c.1512T>C (p.Pro504=)
|
|
|
NM_001242896.3(DEPDC5):c.1512T>G (p.Pro504=)
|
|
|
NM_001242896.3(DEPDC5):c.1516C>T (p.Leu506=)
|
|
|
NM_001242896.3(DEPDC5):c.1518A>G (p.Leu506=)
|
|
|
NM_001242896.3(DEPDC5):c.1576C>T (p.Leu526=)
|
rs2148759529
|
|
NM_001242896.3(DEPDC5):c.1581C>G (p.Gly527=)
|
rs2148759571
|
|
NM_001242896.3(DEPDC5):c.1590C>T (p.Ala530=)
|
|
|
NM_001242896.3(DEPDC5):c.1617C>T (p.His539=)
|
|
|
NM_001242896.3(DEPDC5):c.1635C>G (p.Val545=)
|
|
|
NM_001242896.3(DEPDC5):c.1659C>T (p.Ser553=)
|
|
|
NM_001242896.3(DEPDC5):c.1666+22_1666+25del
|
|
|
NM_001242896.3(DEPDC5):c.1666+8T>C
|
|
|
NM_001242896.3(DEPDC5):c.1666+8_1666+30del
|
|
|
NM_001242896.3(DEPDC5):c.1667-4G>A
|
rs1290733834
|
|
NM_001242896.3(DEPDC5):c.1668T>C (p.Asp556=)
|
|
|
NM_001242896.3(DEPDC5):c.1677G>A (p.Glu559=)
|
rs2148801169
|
|
NM_001242896.3(DEPDC5):c.1695A>G (p.Pro565=)
|
|
|
NM_001242896.3(DEPDC5):c.1710T>C (p.Ser570=)
|
|
|
NM_001242896.3(DEPDC5):c.1764T>A (p.Pro588=)
|
|
|
NM_001242896.3(DEPDC5):c.1776G>A (p.Thr592=)
|
|
|
NM_001242896.3(DEPDC5):c.186A>G (p.Leu62=)
|
rs2148027760
|
|
NM_001242896.3(DEPDC5):c.1870+11T>C
|
|
|
NM_001242896.3(DEPDC5):c.1870+8G>T
|
rs2148802637
|
|
NM_001242896.3(DEPDC5):c.1871-11dup
|
|
|
NM_001242896.3(DEPDC5):c.1871-20G>A
|
rs1569012086
|
|
NM_001242896.3(DEPDC5):c.1878C>G (p.Ser626=)
|
rs577982097
|
|
NM_001242896.3(DEPDC5):c.1878C>T (p.Ser626=)
|
|
|
NM_001242896.3(DEPDC5):c.1902C>T (p.His634=)
|
rs2148821439
|
|
NM_001242896.3(DEPDC5):c.1911A>G (p.Arg637=)
|
|
|
NM_001242896.3(DEPDC5):c.1926G>A (p.Glu642=)
|
rs1602157090
|
|
NM_001242896.3(DEPDC5):c.1929A>G (p.Leu643=)
|
|
|
NM_001242896.3(DEPDC5):c.193+10A>G
|
rs1322352494
|
|
NM_001242896.3(DEPDC5):c.193+11T>A
|
rs761254536
|
|
NM_001242896.3(DEPDC5):c.193+14C>G
|
|
|
NM_001242896.3(DEPDC5):c.193+14C>T
|
|
|
NM_001242896.3(DEPDC5):c.194-19G>A
|
|
|
NM_001242896.3(DEPDC5):c.1953A>G (p.Pro651=)
|
rs2148821913
|
|
NM_001242896.3(DEPDC5):c.1983A>G (p.Leu661=)
|
|
|
NM_001242896.3(DEPDC5):c.1986A>G (p.Ala662=)
|
|
|
NM_001242896.3(DEPDC5):c.2006+16G>A
|
|
|
NM_001242896.3(DEPDC5):c.2006+19C>T
|
|
|
NM_001242896.3(DEPDC5):c.2007-16G>T
|
rs2148829504
|
|
NM_001242896.3(DEPDC5):c.2019C>T (p.Ser673=)
|
|
|
NM_001242896.3(DEPDC5):c.2049G>A (p.Leu683=)
|
rs2148830090
|
|
NM_001242896.3(DEPDC5):c.2091C>T (p.Ser697=)
|
rs2148830432
|
|
NM_001242896.3(DEPDC5):c.2105-10C>A
|
|
|
NM_001242896.3(DEPDC5):c.2130G>A (p.Lys710=)
|
|
|
NM_001242896.3(DEPDC5):c.2163A>G (p.Pro721=)
|
|
|
NM_001242896.3(DEPDC5):c.2170+16T>G
|
rs2090797139
|
|
NM_001242896.3(DEPDC5):c.2170+17dup
|
|
|
NM_001242896.3(DEPDC5):c.2170+7G>A
|
rs1230985283
|
|
NM_001242896.3(DEPDC5):c.2170+7G>C
|
rs1230985283
|
|
NM_001242896.3(DEPDC5):c.2171-15T>G
|
|
|
NM_001242896.3(DEPDC5):c.2171-17C>G
|
rs202128413
|
|
NM_001242896.3(DEPDC5):c.2178A>G (p.Thr726=)
|
rs559312468
|
|
NM_001242896.3(DEPDC5):c.2187T>C (p.Ala729=)
|
rs1395354365
|
|
NM_001242896.3(DEPDC5):c.2190C>T (p.Pro730=)
|
rs762034639
|
|
NM_001242896.3(DEPDC5):c.2235G>A (p.Lys745=)
|
|
|
NM_001242896.3(DEPDC5):c.2247T>C (p.Thr749=)
|
|
|
NM_001242896.3(DEPDC5):c.2253G>A (p.Ala751=)
|
rs777616535
|
|
NM_001242896.3(DEPDC5):c.2262C>A (p.Pro754=)
|
|
|
NM_001242896.3(DEPDC5):c.2298G>A (p.Leu766=)
|
|
|
NM_001242896.3(DEPDC5):c.2319C>G (p.Gly773=)
|
|
|
NM_001242896.3(DEPDC5):c.2349C>T (p.Ile783=)
|
rs771501558
|
|
NM_001242896.3(DEPDC5):c.2354+9C>A
|
rs2148953767
|
|
NM_001242896.3(DEPDC5):c.2355-11G>A
|
|
|
NM_001242896.3(DEPDC5):c.2355-11G>T
|
rs201874907
|
|
NM_001242896.3(DEPDC5):c.2355-19A>G
|
|
|
NM_001242896.3(DEPDC5):c.2385C>A (p.Ala795=)
|
|
|
NM_001242896.3(DEPDC5):c.2430C>T (p.Gly810=)
|
rs1486987288
|
|
NM_001242896.3(DEPDC5):c.2515+10T>C
|
rs1276307484
|
|
NM_001242896.3(DEPDC5):c.2515+11dup
|
|
|
NM_001242896.3(DEPDC5):c.2515+16T>C
|
|
|
NM_001242896.3(DEPDC5):c.2515+18G>T
|
|
|
NM_001242896.3(DEPDC5):c.2515+9T>C
|
rs1185276034
|
|
NM_001242896.3(DEPDC5):c.2516-16dup
|
|
|
NM_001242896.3(DEPDC5):c.2562G>A (p.Leu854=)
|
|
|
NM_001242896.3(DEPDC5):c.2577G>C (p.Thr859=)
|
rs375938114
|
|
NM_001242896.3(DEPDC5):c.2583C>T (p.His861=)
|
rs2149004496
|
|
NM_001242896.3(DEPDC5):c.2598G>A (p.Lys866=)
|
rs1602350504
|
|
NM_001242896.3(DEPDC5):c.2622A>G (p.Arg874=)
|
rs374820591
|
|
NM_001242896.3(DEPDC5):c.2633+15A>G
|
|
|
NM_001242896.3(DEPDC5):c.2634-4G>A
|
|
|
NM_001242896.3(DEPDC5):c.2664C>T (p.Tyr888=)
|
rs2091536064
|
|
NM_001242896.3(DEPDC5):c.2703C>T (p.Phe901=)
|
|
|
NM_001242896.3(DEPDC5):c.2761T>C (p.Leu921=)
|
rs2149009557
|
|
NM_001242896.3(DEPDC5):c.279+11G>A
|
|
|
NM_001242896.3(DEPDC5):c.279+13_279+15del
|
rs755269620
|
|
NM_001242896.3(DEPDC5):c.279+7C>G
|
rs1233032816
|
|
NM_001242896.3(DEPDC5):c.280-11A>G
|
rs1601648104
|
|
NM_001242896.3(DEPDC5):c.280-20C>A
|
rs931125400
|
|
NM_001242896.3(DEPDC5):c.280-8C>T
|
|
|
NM_001242896.3(DEPDC5):c.2801+7_2801+20del
|
rs1346345987
|
|
NM_001242896.3(DEPDC5):c.2802-16T>G
|
|
|
NM_001242896.3(DEPDC5):c.2802-6C>G
|
|
|
NM_001242896.3(DEPDC5):c.2802-7C>T
|
|
|
NM_001242896.3(DEPDC5):c.2832C>T (p.Thr944=)
|
rs771577027
|
|
NM_001242896.3(DEPDC5):c.2844G>C (p.Leu948=)
|
rs151215663
|
|
NM_001242896.3(DEPDC5):c.2845C>T (p.Leu949=)
|
|
|
NM_001242896.3(DEPDC5):c.2850A>G (p.Pro950=)
|
rs1422399658
|
|
NM_001242896.3(DEPDC5):c.2853C>T (p.Ala951=)
|
rs1602367039
|
|
NM_001242896.3(DEPDC5):c.285G>A (p.Val95=)
|
rs2082840094
|
|
NM_001242896.3(DEPDC5):c.2943A>G (p.Gln981=)
|
rs2149024532
|
|
NM_001242896.3(DEPDC5):c.2947C>T (p.Leu983=)
|
rs572651898
|
|
NM_001242896.3(DEPDC5):c.2955T>C (p.Gly985=)
|
|
|
NM_001242896.3(DEPDC5):c.295C>T (p.Leu99=)
|
rs2148128121
|
|
NM_001242896.3(DEPDC5):c.2995C>A (p.Arg999=)
|
rs375050296
|
|
NM_001242896.3(DEPDC5):c.2997G>A (p.Arg999=)
|
rs372078779
|
|
NM_001242896.3(DEPDC5):c.3003C>A (p.Arg1001=)
|
rs1602368616
|
|
NM_001242896.3(DEPDC5):c.3021+15G>T
|
|
|
NM_001242896.3(DEPDC5):c.3021+17C>T
|
|
|
NM_001242896.3(DEPDC5):c.3021+19C>T
|
|
|
NM_001242896.3(DEPDC5):c.3022-14C>G
|
|
|
NM_001242896.3(DEPDC5):c.3022-17C>G
|
rs2091763749
|
|
NM_001242896.3(DEPDC5):c.3022-19C>G
|
|
|
NM_001242896.3(DEPDC5):c.3022-6C>T
|
rs2149037516
|
|
NM_001242896.3(DEPDC5):c.3045G>A (p.Leu1015=)
|
|
|
NM_001242896.3(DEPDC5):c.3057G>A (p.Gly1019=)
|
rs1060504242
|
|
NM_001242896.3(DEPDC5):c.3069G>A (p.Thr1023=)
|
rs201368629
|
|
NM_001242896.3(DEPDC5):c.3069G>T (p.Thr1023=)
|
rs201368629
|
|
NM_001242896.3(DEPDC5):c.3117A>G (p.Ser1039=)
|
|
|
NM_001242896.3(DEPDC5):c.3123C>T (p.Leu1041=)
|
rs1555901654
|
|
NM_001242896.3(DEPDC5):c.3133T>C (p.Leu1045=)
|
|
|
NM_001242896.3(DEPDC5):c.3155+10T>C
|
|
|
NM_001242896.3(DEPDC5):c.3155+13T>A
|
rs762788928
|
|
NM_001242896.3(DEPDC5):c.3155+13T>G
|
|
|
NM_001242896.3(DEPDC5):c.3156-19G>A
|
|
|
NM_001242896.3(DEPDC5):c.3156-8C>T
|
rs2092344323
|
|
NM_001242896.3(DEPDC5):c.3177A>C (p.Ala1059=)
|
|
|
NM_001242896.3(DEPDC5):c.3177A>G (p.Ala1059=)
|
rs776608344
|
|
NM_001242896.3(DEPDC5):c.3255C>T (p.Ser1085=)
|
rs1427106897
|
|
NM_001242896.3(DEPDC5):c.3264+10G>A
|
rs1440238653
|
|
NM_001242896.3(DEPDC5):c.3264+13G>T
|
|
|
NM_001242896.3(DEPDC5):c.3264+15G>A
|
|
|
NM_001242896.3(DEPDC5):c.3264+15G>C
|
rs1345423947
|
|
NM_001242896.3(DEPDC5):c.3264+17T>A
|
rs2149118429
|
|
NM_001242896.3(DEPDC5):c.3265-12C>T
|
|
|
NM_001242896.3(DEPDC5):c.3265-16C>A
|
rs1212448725
|
|
NM_001242896.3(DEPDC5):c.3303C>T (p.Arg1101=)
|
|
|
NM_001242896.3(DEPDC5):c.3330+12T>C
|
|
|
NM_001242896.3(DEPDC5):c.3330+13C>T
|
|
|
NM_001242896.3(DEPDC5):c.3330+19C>G
|
|
|
NM_001242896.3(DEPDC5):c.3330+8C>T
|
rs2149154018
|
|
NM_001242896.3(DEPDC5):c.3331-11del
|
|
|
NM_001242896.3(DEPDC5):c.3331-20C>A
|
rs2092812665
|
|
NM_001242896.3(DEPDC5):c.3331-7C>T
|
|
|
NM_001242896.3(DEPDC5):c.3333A>G (p.Val1111=)
|
|
|
NM_001242896.3(DEPDC5):c.3411C>G (p.Gly1137=)
|
|
|
NM_001242896.3(DEPDC5):c.3414C>T (p.Asn1138=)
|
|
|
NM_001242896.3(DEPDC5):c.3444A>T (p.Ile1148=)
|
rs1302758120
|
|
NM_001242896.3(DEPDC5):c.3456C>A (p.Gly1152=)
|
|
|
NM_001242896.3(DEPDC5):c.3456C>T (p.Gly1152=)
|
rs757188110
|
|
NM_001242896.3(DEPDC5):c.3477T>C (p.Ser1159=)
|
rs2149231632
|
|
NM_001242896.3(DEPDC5):c.3486-12C>G
|
rs1319274878
|
|
NM_001242896.3(DEPDC5):c.3486-13C>A
|
|
|
NM_001242896.3(DEPDC5):c.3486-5dup
|
rs1555914747
|
|
NM_001242896.3(DEPDC5):c.3486-9G>A
|
|
|
NM_001242896.3(DEPDC5):c.3558C>T (p.His1186=)
|
rs1301947461
|
|
NM_001242896.3(DEPDC5):c.3561C>G (p.Pro1187=)
|
|
|
NM_001242896.3(DEPDC5):c.3563+20G>A
|
|
|
NM_001242896.3(DEPDC5):c.3563+7G>A
|
|
|
NM_001242896.3(DEPDC5):c.3564-15C>T
|
|
|
NM_001242896.3(DEPDC5):c.3564-8G>A
|
|
|
NM_001242896.3(DEPDC5):c.3600C>G (p.Leu1200=)
|
rs756889449
|
|
NM_001242896.3(DEPDC5):c.363+11A>T
|
|
|
NM_001242896.3(DEPDC5):c.3630G>A (p.Val1210=)
|
rs2149256621
|
|
NM_001242896.3(DEPDC5):c.364-10C>G
|
|
|
NM_001242896.3(DEPDC5):c.364-11C>A
|
rs1261280021
|
|
NM_001242896.3(DEPDC5):c.364-11C>G
|
rs1261280021
|
|
NM_001242896.3(DEPDC5):c.364-12C>T
|
|
|
NM_001242896.3(DEPDC5):c.364-13C>T
|
rs2148165354
|
|
NM_001242896.3(DEPDC5):c.364-16C>G
|
|
|
NM_001242896.3(DEPDC5):c.364-20C>G
|
|
|
NM_001242896.3(DEPDC5):c.3640T>C (p.Leu1214=)
|
|
|
NM_001242896.3(DEPDC5):c.3645G>A (p.Val1215=)
|
|
|
NM_001242896.3(DEPDC5):c.3663C>T (p.Ile1221=)
|
|
|
NM_001242896.3(DEPDC5):c.3696+10C>A
|
rs755463750
|
|
NM_001242896.3(DEPDC5):c.3696+10C>T
|
|
|
NM_001242896.3(DEPDC5):c.3697-11G>A
|
|
|
NM_001242896.3(DEPDC5):c.3697-13A>C
|
rs199645234
|
|
NM_001242896.3(DEPDC5):c.3697-13A>T
|
rs199645234
|
|
NM_001242896.3(DEPDC5):c.3711G>A (p.Glu1237=)
|
|
|
NM_001242896.3(DEPDC5):c.3735C>A (p.Gly1245=)
|
rs758804451
|
|
NM_001242896.3(DEPDC5):c.3762C>T (p.Gly1254=)
|
|
|
NM_001242896.3(DEPDC5):c.3786G>T (p.Thr1262=)
|
rs372568872
|
|
NM_001242896.3(DEPDC5):c.3795G>A (p.Glu1265=)
|
|
|
NM_001242896.3(DEPDC5):c.3805+16A>C
|
|
|
NM_001242896.3(DEPDC5):c.3805+20C>T
|
|
|
NM_001242896.3(DEPDC5):c.3805+7G>T
|
|
|
NM_001242896.3(DEPDC5):c.3806-11A>G
|
|
|
NM_001242896.3(DEPDC5):c.3806-16C>T
|
|
|
NM_001242896.3(DEPDC5):c.3806-20C>G
|
|
|
NM_001242896.3(DEPDC5):c.3806-8T>C
|
rs1555919097
|
|
NM_001242896.3(DEPDC5):c.3816G>A (p.Gln1272=)
|
rs1602677099
|
|
NM_001242896.3(DEPDC5):c.3825C>T (p.Ala1275=)
|
|
|
NM_001242896.3(DEPDC5):c.3828C>T (p.Thr1276=)
|
rs1602677299
|
|
NM_001242896.3(DEPDC5):c.3846A>G (p.Gly1282=)
|
rs771875089
|
|
NM_001242896.3(DEPDC5):c.3849G>A (p.Val1283=)
|
|
|
NM_001242896.3(DEPDC5):c.384C>T (p.Ile128=)
|
|
|
NM_001242896.3(DEPDC5):c.3852C>T (p.Asp1284=)
|
|
|
NM_001242896.3(DEPDC5):c.3861C>G (p.Ala1287=)
|
rs2093119387
|
|
NM_001242896.3(DEPDC5):c.3861C>T (p.Ala1287=)
|
rs2093119387
|
|
NM_001242896.3(DEPDC5):c.3948G>A (p.Leu1316=)
|
rs371864100
|
|
NM_001242896.3(DEPDC5):c.3951T>A (p.Pro1317=)
|
|
|
NM_001242896.3(DEPDC5):c.3963C>T (p.Ala1321=)
|
rs2149295505
|
|
NM_001242896.3(DEPDC5):c.3981C>T (p.His1327=)
|
rs2149295639
|
|
NM_001242896.3(DEPDC5):c.4020G>A (p.Ala1340=)
|
|
|
NM_001242896.3(DEPDC5):c.4026A>T (p.Ala1342=)
|
|
|
NM_001242896.3(DEPDC5):c.4033+18A>G
|
|
|
NM_001242896.3(DEPDC5):c.4033+8C>T
|
rs1250987108
|
|
NM_001242896.3(DEPDC5):c.4034-19C>T
|
|
|
NM_001242896.3(DEPDC5):c.4119T>C (p.Tyr1373=)
|
|
|
NM_001242896.3(DEPDC5):c.4122C>T (p.Tyr1374=)
|
rs939021094
|
|
NM_001242896.3(DEPDC5):c.413+8T>C
|
rs761285561
|
|
NM_001242896.3(DEPDC5):c.413+8T>G
|
|
|
NM_001242896.3(DEPDC5):c.414-18G>T
|
|
|
NM_001242896.3(DEPDC5):c.414-7C>T
|
|
|
NM_001242896.3(DEPDC5):c.4155G>A (p.Glu1385=)
|
|
|
NM_001242896.3(DEPDC5):c.417A>G (p.Ala139=)
|
rs2148328415
|
|
NM_001242896.3(DEPDC5):c.4182C>A (p.Thr1394=)
|
rs763298411
|
|
NM_001242896.3(DEPDC5):c.4182C>T (p.Thr1394=)
|
|
|
NM_001242896.3(DEPDC5):c.4191A>G (p.Val1397=)
|
rs1406253877
|
|
NM_001242896.3(DEPDC5):c.4194C>T (p.Leu1398=)
|
rs1449562400
|
|
NM_001242896.3(DEPDC5):c.4197C>T (p.Phe1399=)
|
|
|
NM_001242896.3(DEPDC5):c.4203+17A>C
|
|
|
NM_001242896.3(DEPDC5):c.4203+8C>T
|
|
|
NM_001242896.3(DEPDC5):c.4204-5G>A
|
rs562015255
|
|
NM_001242896.3(DEPDC5):c.4204-5G>T
|
rs562015255
|
|
NM_001242896.3(DEPDC5):c.4204-6C>T
|
rs746382504
|
|
NM_001242896.3(DEPDC5):c.4204-8T>C
|
|
|
NM_001242896.3(DEPDC5):c.4227C>T (p.Ala1409=)
|
rs2149397128
|
|
NM_001242896.3(DEPDC5):c.4242C>T (p.Phe1414=)
|
|
|
NM_001242896.3(DEPDC5):c.4287C>T (p.Tyr1429=)
|
|
|
NM_001242896.3(DEPDC5):c.4288C>T (p.Leu1430=)
|
rs2149397491
|
|
NM_001242896.3(DEPDC5):c.4290G>C (p.Leu1430=)
|
rs2149397506
|
|
NM_001242896.3(DEPDC5):c.42G>A (p.Lys14=)
|
|
|
NM_001242896.3(DEPDC5):c.4323C>T (p.Ile1441=)
|
rs2149397656
|
|
NM_001242896.3(DEPDC5):c.4326A>T (p.Pro1442=)
|
rs2149397688
|
|
NM_001242896.3(DEPDC5):c.4329C>T (p.Leu1443=)
|
|
|
NM_001242896.3(DEPDC5):c.4335C>T (p.Ile1445=)
|
|
|
NM_001242896.3(DEPDC5):c.4375+15C>T
|
|
|
NM_001242896.3(DEPDC5):c.4376-13A>T
|
|
|
NM_001242896.3(DEPDC5):c.4376-16_4376-14del
|
|
|
NM_001242896.3(DEPDC5):c.4376-7_4376-3del
|
rs2093652083
|
|
NM_001242896.3(DEPDC5):c.4386C>G (p.Pro1462=)
|
rs754105028
|
|
NM_001242896.3(DEPDC5):c.4386C>T (p.Pro1462=)
|
rs754105028
|
|
NM_001242896.3(DEPDC5):c.4392G>C (p.Thr1464=)
|
|
|
NM_001242896.3(DEPDC5):c.4436+12A>C
|
|
|
NM_001242896.3(DEPDC5):c.4436+18T>C
|
|
|
NM_001242896.3(DEPDC5):c.4436+9C>T
|
|
|
NM_001242896.3(DEPDC5):c.4437-12G>T
|
|
|
NM_001242896.3(DEPDC5):c.4437-15C>T
|
|
|
NM_001242896.3(DEPDC5):c.4437-20G>A
|
rs754299668
|
|
NM_001242896.3(DEPDC5):c.4437-6C>T
|
|
|
NM_001242896.3(DEPDC5):c.4467C>T (p.Ala1489=)
|
rs369183411
|
|
NM_001242896.3(DEPDC5):c.447G>A (p.Glu149=)
|
rs2148328788
|
|
NM_001242896.3(DEPDC5):c.4485T>C (p.Pro1495=)
|
|
|
NM_001242896.3(DEPDC5):c.4488T>G (p.Ala1496=)
|
rs771101581
|
|
NM_001242896.3(DEPDC5):c.4519+20G>A
|
|
|
NM_001242896.3(DEPDC5):c.4519+20G>T
|
|
|
NM_001242896.3(DEPDC5):c.4520-17C>T
|
|
|
NM_001242896.3(DEPDC5):c.4520-18G>A
|
rs747098092
|
|
NM_001242896.3(DEPDC5):c.4520-19C>T
|
|
|
NM_001242896.3(DEPDC5):c.4520-20G>A
|
|
|
NM_001242896.3(DEPDC5):c.4520-8C>T
|
|
|
NM_001242896.3(DEPDC5):c.4554C>G (p.Arg1518=)
|
rs373077223
|
|
NM_001242896.3(DEPDC5):c.4582C>A (p.Arg1528=)
|
rs2149448946
|
|
NM_001242896.3(DEPDC5):c.4599C>T (p.Ser1533=)
|
rs2149449059
|
|
NM_001242896.3(DEPDC5):c.4632C>T (p.Val1544=)
|
rs374597058
|
|
NM_001242896.3(DEPDC5):c.4641C>T (p.Asn1547=)
|
|
|
NM_001242896.3(DEPDC5):c.4647C>G (p.Ala1549=)
|
rs1555943168
|
|
NM_001242896.3(DEPDC5):c.4653C>T (p.Asn1551=)
|
rs2149449423
|
|
NM_001242896.3(DEPDC5):c.4656C>T (p.Thr1552=)
|
|
|
NM_001242896.3(DEPDC5):c.465C>T (p.Tyr155=)
|
rs2084068528
|
|
NM_001242896.3(DEPDC5):c.4662C>T (p.Leu1554=)
|
|
|
NM_001242896.3(DEPDC5):c.4671A>T (p.Thr1557=)
|
rs772797869
|
|
NM_001242896.3(DEPDC5):c.4677C>T (p.Arg1559=)
|
rs763285231
|
|
NM_001242896.3(DEPDC5):c.4707T>G (p.Ala1569=)
|
|
|
NM_001242896.3(DEPDC5):c.4711C>A (p.Arg1571=)
|
rs778708641
|
|
NM_001242896.3(DEPDC5):c.4756C>A (p.Arg1586=)
|
rs768925194
|
|
NM_001242896.3(DEPDC5):c.4759C>T (p.Leu1587=)
|
rs1569256444
|
|
NM_001242896.3(DEPDC5):c.4779T>C (p.Ser1593=)
|
|
|
NM_001242896.3(DEPDC5):c.480C>T (p.Thr160=)
|
rs2148329218
|
|
NM_001242896.3(DEPDC5):c.483+10A>G
|
|
|
NM_001242896.3(DEPDC5):c.483+13A>G
|
|
|
NM_001242896.3(DEPDC5):c.483+15A>G
|
rs1055316926
|
|
NM_001242896.3(DEPDC5):c.484-36_484-15del
|
|
|
NM_001242896.3(DEPDC5):c.489G>A (p.Val163=)
|
rs750213306
|
|
NM_001242896.3(DEPDC5):c.562+12A>G
|
|
|
NM_001242896.3(DEPDC5):c.563-15A>G
|
rs1466232803
|
|
NM_001242896.3(DEPDC5):c.563-8C>G
|
|
|
NM_001242896.3(DEPDC5):c.58+10G>C
|
|
|
NM_001242896.3(DEPDC5):c.58+10G>T
|
|
|
NM_001242896.3(DEPDC5):c.58+15G>A
|
|
|
NM_001242896.3(DEPDC5):c.58+17C>T
|
rs2147931228
|
|
NM_001242896.3(DEPDC5):c.58+9C>T
|
|
|
NM_001242896.3(DEPDC5):c.582A>G (p.Lys194=)
|
|
|
NM_001242896.3(DEPDC5):c.597C>T (p.Phe199=)
|
rs373004252
|
|
NM_001242896.3(DEPDC5):c.624+14T>C
|
|
|
NM_001242896.3(DEPDC5):c.625-14C>T
|
|
|
NM_001242896.3(DEPDC5):c.625-19G>T
|
|
|
NM_001242896.3(DEPDC5):c.633C>T (p.Asn211=)
|
rs771270766
|
|
NM_001242896.3(DEPDC5):c.694+11A>G
|
|
|
NM_001242896.3(DEPDC5):c.694+9C>A
|
rs2148505396
|
|
NM_001242896.3(DEPDC5):c.695-16G>T
|
|
|
NM_001242896.3(DEPDC5):c.695-18C>T
|
|
|
NM_001242896.3(DEPDC5):c.695-19T>C
|
|
|
NM_001242896.3(DEPDC5):c.695-7A>G
|
|
|
NM_001242896.3(DEPDC5):c.695-9C>T
|
|
|
NM_001242896.3(DEPDC5):c.71T>G (p.Val24Gly)
|
rs572660873
|
|
NM_001242896.3(DEPDC5):c.741G>A (p.Lys247=)
|
|
|
NM_001242896.3(DEPDC5):c.767+10G>C
|
|
|
NM_001242896.3(DEPDC5):c.767+14C>T
|
|
|
NM_001242896.3(DEPDC5):c.767+16T>G
|
rs2085832239
|
|
NM_001242896.3(DEPDC5):c.767+8T>C
|
rs2148514359
|
|
NM_001242896.3(DEPDC5):c.768-17_768-15del
|
rs2086391348
|
|
NM_001242896.3(DEPDC5):c.768-4T>G
|
|
|
NM_001242896.3(DEPDC5):c.768-5_768-4del
|
rs1244483025
|
|
NM_001242896.3(DEPDC5):c.807A>G (p.Ser269=)
|
|
|
NM_001242896.3(DEPDC5):c.819C>T (p.Thr273=)
|
|
|
NM_001242896.3(DEPDC5):c.837C>A (p.Ile279=)
|
|
|
NM_001242896.3(DEPDC5):c.846A>C (p.Pro282=)
|
|
|
NM_001242896.3(DEPDC5):c.850T>C (p.Leu284=)
|
|
|
NM_001242896.3(DEPDC5):c.871+12A>G
|
|
|
NM_001242896.3(DEPDC5):c.871+13T>A
|
|
|
NM_001242896.3(DEPDC5):c.871+17A>T
|
|
|
NM_001242896.3(DEPDC5):c.871+7C>A
|
|
|
NM_001242896.3(DEPDC5):c.879T>C (p.Phe293=)
|
rs1335286901
|
|
NM_001242896.3(DEPDC5):c.891T>C (p.Asp297=)
|
rs2086523675
|
|
NM_001242896.3(DEPDC5):c.927C>A (p.Ala309=)
|
rs2148587839
|
|
NM_001242896.3(DEPDC5):c.927C>T (p.Ala309=)
|
rs2148587839
|
|
NM_001242896.3(DEPDC5):c.946+12T>C
|
rs372501483
|
|
NM_001242896.3(DEPDC5):c.946+18C>T
|
rs1269926219
|
|
NM_001242896.3(DEPDC5):c.947-11T>C
|
|
|
NM_001242896.3(DEPDC5):c.947-20A>G
|
|
|
NM_001242896.3(DEPDC5):c.947-8A>G
|
|
|
NM_001242896.3(DEPDC5):c.96C>T (p.His32=)
|
|
|
NM_004287.5(GOSR2):c.10C>T (p.Leu4=)
|
|
|
NM_004287.5(GOSR2):c.15C>T (p.Phe5=)
|
|
|
NM_004287.5(GOSR2):c.203+17G>T
|
|
|
NM_004287.5(GOSR2):c.203+8C>G
|
|
|
NM_004287.5(GOSR2):c.204-17C>G
|
|
|
NM_004287.5(GOSR2):c.204-8A>C
|
|
|
NM_004287.5(GOSR2):c.204-9C>T
|
|
|
NM_004287.5(GOSR2):c.219A>G (p.Leu73=)
|
|
|
NM_004287.5(GOSR2):c.29+17G>A
|
|
|
NM_004287.5(GOSR2):c.30-10C>T
|
rs2146849887
|
|
NM_004287.5(GOSR2):c.30-10_30-7del
|
|
|
NM_004287.5(GOSR2):c.30-12T>C
|
|
|
NM_004287.5(GOSR2):c.30-20C>T
|
|
|
NM_004287.5(GOSR2):c.30-4A>G
|
|
|
NM_004287.5(GOSR2):c.30-7T>A
|
rs2146850100
|
|
NM_004287.5(GOSR2):c.30-8T>A
|
rs925439682
|
|
NM_004287.5(GOSR2):c.300G>A (p.Gln100=)
|
|
|
NM_004287.5(GOSR2):c.336+17G>T
|
rs2146914624
|
|
NM_004287.5(GOSR2):c.336+20A>C
|
|
|
NM_004287.5(GOSR2):c.336+7C>A
|
|
|
NM_004287.5(GOSR2):c.337-13_337-12del
|
|
|
NM_004287.5(GOSR2):c.337-6dup
|
rs2146971287
|
|
NM_004287.5(GOSR2):c.363C>T (p.Asp121=)
|
rs886053078
|
|
NM_004287.5(GOSR2):c.381C>T (p.Asn127=)
|
rs761272920
|
|
NM_004287.5(GOSR2):c.390C>T (p.Leu130=)
|
|
|
NM_004287.5(GOSR2):c.435C>T (p.His145=)
|
rs1599020227
|
|
NM_004287.5(GOSR2):c.478-14C>T
|
rs1203026971
|
|
NM_004287.5(GOSR2):c.478-6C>T
|
|
|
NM_004287.5(GOSR2):c.480G>T (p.Gly160=)
|
|
|
NM_004287.5(GOSR2):c.525C>T (p.Ser175=)
|
rs2147050274
|
|
NM_004287.5(GOSR2):c.528C>T (p.Asn176=)
|
rs2088817717
|
|
NM_004287.5(GOSR2):c.609C>T (p.Val203=)
|
|
|
NM_004287.5(GOSR2):c.618C>T (p.Leu206=)
|
|
|
NM_004287.5(GOSR2):c.631C>T (p.Leu211=)
|
rs2147052221
|
|
NM_004287.5(GOSR2):c.6T>C (p.Asp2=)
|
rs757594881
|
|
NM_004287.5(GOSR2):c.94+12A>T
|
|
|
NM_004287.5(GOSR2):c.94+16_94+17del
|
rs780992578
|
|
NM_004287.5(GOSR2):c.95-6G>T
|
rs1345182096
|
|
NM_004287.5(GOSR2):c.95-7T>G
|
rs752611190
|
|
NM_004287.5(GOSR2):c.99A>G (p.Val33=)
|
rs1555709339
|
|
NM_004287.5(GOSR2):c.9C>G (p.Pro3=)
|
rs750589437
|
|
NM_005045.4(RELN):c.10015A>C (p.Met3339Leu)
|
|
|
NM_005045.4(RELN):c.10059C>T (p.His3353=)
|
|
|
NM_005045.4(RELN):c.10065G>A (p.Val3355=)
|
|
|
NM_005045.4(RELN):c.10164G>A (p.Val3388=)
|
|
|
NM_005045.4(RELN):c.10176C>T (p.Val3392=)
|
rs775078043
|
|
NM_005045.4(RELN):c.10181+15T>C
|
|
|
NM_005045.4(RELN):c.10182-18C>T
|
|
|
NM_005045.4(RELN):c.10191G>A (p.Arg3397=)
|
rs1350446371
|
|
NM_005045.4(RELN):c.10225C>T (p.Arg3409Cys)
|
|
|
NM_005045.4(RELN):c.10226G>A (p.Arg3409His)
|
|
|
NM_005045.4(RELN):c.10233T>C (p.Asn3411=)
|
rs2116975846
|
|
NM_005045.4(RELN):c.10251A>C (p.Gln3417His)
|
|
|
NM_005045.4(RELN):c.10280+19G>A
|
|
|
NM_005045.4(RELN):c.10280+7A>G
|
rs764488118
|
|
NM_005045.4(RELN):c.10281-10T>C
|
rs2116962173
|
|
NM_005045.4(RELN):c.10281-15T>C
|
rs2116962209
|
|
NM_005045.4(RELN):c.10286+10_10286+12del
|
rs2116962096
|
|
NM_005045.4(RELN):c.10286+8C>A
|
|
|
NM_005045.4(RELN):c.10287-6T>C
|
|
|
NM_005045.4(RELN):c.1032C>G (p.Ala344=)
|
rs765460597
|
|
NM_005045.4(RELN):c.1032C>T (p.Ala344=)
|
|
|
NM_005045.4(RELN):c.10332G>A (p.Gly3444=)
|
|
|
NM_005045.4(RELN):c.1038T>C (p.Asp346=)
|
|
|
NM_005045.4(RELN):c.1045T>C (p.Leu349=)
|
rs777083831
|
|
NM_005045.4(RELN):c.1068A>G (p.Arg356=)
|
rs761077554
|
|
NM_005045.4(RELN):c.1093G>A (p.Asp365Asn)
|
|
|
NM_005045.4(RELN):c.1119T>G (p.Leu373=)
|
|
|
NM_005045.4(RELN):c.1143+18T>C
|
|
|
NM_005045.4(RELN):c.1144-18C>G
|
rs1280272450
|
|
NM_005045.4(RELN):c.1144-4A>G
|
|
|
NM_005045.4(RELN):c.1144-5T>A
|
rs1395638450
|
|
NM_005045.4(RELN):c.1144-5T>C
|
rs1395638450
|
|
NM_005045.4(RELN):c.1144-8A>G
|
rs2115696480
|
|
NM_005045.4(RELN):c.114C>T (p.Phe38=)
|
rs2116860210
|
|
NM_005045.4(RELN):c.115C>T (p.Leu39=)
|
|
|
NM_005045.4(RELN):c.1179C>T (p.Phe393=)
|
|
|
NM_005045.4(RELN):c.1185A>G (p.Gly395=)
|
rs2115696164
|
|
NM_005045.4(RELN):c.1198G>A (p.Glu400Lys)
|
|
|
NM_005045.4(RELN):c.1206T>C (p.Asn402=)
|
|
|
NM_005045.4(RELN):c.1215C>A (p.Thr405=)
|
rs2115695904
|
|
NM_005045.4(RELN):c.1227A>G (p.Val409=)
|
|
|
NM_005045.4(RELN):c.1257A>G (p.Gln419=)
|
rs2115695469
|
|
NM_005045.4(RELN):c.1278C>G (p.Ser426Arg)
|
rs755465811
|
|
NM_005045.4(RELN):c.1289+13T>C
|
|
|
NM_005045.4(RELN):c.1289+7A>G
|
|
|
NM_005045.4(RELN):c.1290-10T>G
|
|
|
NM_005045.4(RELN):c.1290-11T>C
|
|
|
NM_005045.4(RELN):c.1290-11_1290-9dup
|
rs146986040
|
|
NM_005045.4(RELN):c.1290-15C>T
|
|
|
NM_005045.4(RELN):c.1290-16C>T
|
|
|
NM_005045.4(RELN):c.1290-5T>C
|
|
|
NM_005045.4(RELN):c.1299C>T (p.Val433=)
|
|
|
NM_005045.4(RELN):c.1327G>A (p.Gly443Arg)
|
|
|
NM_005045.4(RELN):c.1332G>A (p.Thr444=)
|
|
|
NM_005045.4(RELN):c.1359C>T (p.Phe453=)
|
rs1288349555
|
|
NM_005045.4(RELN):c.135G>A (p.Glu45=)
|
|
|
NM_005045.4(RELN):c.1367A>T (p.Asp456Val)
|
|
|
NM_005045.4(RELN):c.1379A>C (p.Lys460Thr)
|
rs779530655
|
|
NM_005045.4(RELN):c.1392A>C (p.Pro464=)
|
rs1347651350
|
|
NM_005045.4(RELN):c.1401C>T (p.Asp467=)
|
|
|
NM_005045.4(RELN):c.1416G>A (p.Gly472=)
|
rs1156543517
|
|
NM_005045.4(RELN):c.1416G>T (p.Gly472=)
|
rs1156543517
|
|
NM_005045.4(RELN):c.1420C>T (p.Leu474=)
|
rs1438871577
|
|
NM_005045.4(RELN):c.1431C>T (p.Tyr477=)
|
|
|
NM_005045.4(RELN):c.1437G>A (p.Val479=)
|
rs2117412568
|
|
NM_005045.4(RELN):c.1441+15A>G
|
|
|
NM_005045.4(RELN):c.1441+16C>A
|
|
|
NM_005045.4(RELN):c.1442-13T>C
|
|
|
NM_005045.4(RELN):c.1442-17A>G
|
|
|
NM_005045.4(RELN):c.1442-7T>G
|
rs1584380083
|
|
NM_005045.4(RELN):c.1470T>C (p.His490=)
|
|
|
NM_005045.4(RELN):c.1516C>T (p.His506Tyr)
|
|
|
NM_005045.4(RELN):c.1533C>A (p.Thr511=)
|
|
|
NM_005045.4(RELN):c.1550A>T (p.Tyr517Phe)
|
rs750093812
|
|
NM_005045.4(RELN):c.1554+7A>G
|
rs764139642
|
|
NM_005045.4(RELN):c.1554+7A>T
|
rs764139642
|
|
NM_005045.4(RELN):c.1554+9G>A
|
|
|
NM_005045.4(RELN):c.1555-12T>C
|
rs2117391847
|
|
NM_005045.4(RELN):c.1555-20del
|
|
|
NM_005045.4(RELN):c.15C>A (p.Gly5=)
|
rs1455461778
|
|
NM_005045.4(RELN):c.1620C>T (p.Leu540=)
|
|
|
NM_005045.4(RELN):c.1623G>A (p.Arg541=)
|
|
|
NM_005045.4(RELN):c.1674C>T (p.Phe558=)
|
|
|
NM_005045.4(RELN):c.1676A>G (p.His559Arg)
|
|
|
NM_005045.4(RELN):c.1680C>G (p.Val560=)
|
rs773927672
|
|
NM_005045.4(RELN):c.171T>C (p.Ile57=)
|
|
|
NM_005045.4(RELN):c.1734G>A (p.Leu578=)
|
rs727504126
|
|
NM_005045.4(RELN):c.1746G>A (p.Thr582=)
|
rs138532222
|
|
NM_005045.4(RELN):c.174C>T (p.Ser58=)
|
rs1797168938
|
|
NM_005045.4(RELN):c.1763+11C>G
|
|
|
NM_005045.4(RELN):c.1763+19T>C
|
rs988534310
|
|
NM_005045.4(RELN):c.1763+19T>G
|
rs988534310
|
|
NM_005045.4(RELN):c.1764-10G>T
|
|
|
NM_005045.4(RELN):c.1764-16G>A
|
|
|
NM_005045.4(RELN):c.1764-18T>C
|
|
|
NM_005045.4(RELN):c.1764-6T>C
|
|
|
NM_005045.4(RELN):c.1830T>A (p.Pro610=)
|
rs2117389164
|
|
NM_005045.4(RELN):c.1892+9A>G
|
rs201307509
|
|
NM_005045.4(RELN):c.1893-13A>G
|
|
|
NM_005045.4(RELN):c.189C>A (p.Gly63=)
|
rs370805443
|
|
NM_005045.4(RELN):c.1902A>C (p.Arg634=)
|
rs2117386132
|
|
NM_005045.4(RELN):c.1914C>T (p.Pro638=)
|
rs2117386074
|
|
NM_005045.4(RELN):c.1941C>T (p.Asn647=)
|
|
|
NM_005045.4(RELN):c.195C>T (p.Pro65=)
|
rs2116859980
|
|
NM_005045.4(RELN):c.2002+20A>G
|
|
|
NM_005045.4(RELN):c.2002+7G>A
|
|
|
NM_005045.4(RELN):c.2003-13T>C
|
|
|
NM_005045.4(RELN):c.2003-16T>C
|
|
|
NM_005045.4(RELN):c.2003-17C>A
|
|
|
NM_005045.4(RELN):c.2003-19C>A
|
|
|
NM_005045.4(RELN):c.2003-19C>G
|
|
|
NM_005045.4(RELN):c.2003-9C>A
|
rs538376608
|
|
NM_005045.4(RELN):c.2003-9C>T
|
rs538376608
|
|
NM_005045.4(RELN):c.2013C>G (p.Gly671=)
|
|
|
NM_005045.4(RELN):c.2069+16T>C
|
|
|
NM_005045.4(RELN):c.2069+19C>T
|
|
|
NM_005045.4(RELN):c.2069+7A>G
|
rs754518201
|
|
NM_005045.4(RELN):c.2070-13A>G
|
|
|
NM_005045.4(RELN):c.2070-14C>T
|
|
|
NM_005045.4(RELN):c.2082A>C (p.Gly694=)
|
rs996259654
|
|
NM_005045.4(RELN):c.210G>T (p.Pro70=)
|
rs770473518
|
|
NM_005045.4(RELN):c.2118A>G (p.Thr706=)
|
|
|
NM_005045.4(RELN):c.211G>C (p.Gly71Arg)
|
|
|
NM_005045.4(RELN):c.2130T>C (p.Phe710=)
|
|
|
NM_005045.4(RELN):c.2163C>A (p.Ser721=)
|
|
|
NM_005045.4(RELN):c.2169C>T (p.Tyr723=)
|
rs1334061774
|
|
NM_005045.4(RELN):c.2175C>T (p.Asn725=)
|
|
|
NM_005045.4(RELN):c.2187C>A (p.Ile729=)
|
|
|
NM_005045.4(RELN):c.2193T>A (p.Gly731=)
|
|
|
NM_005045.4(RELN):c.2196T>G (p.Ala732=)
|
|
|
NM_005045.4(RELN):c.21C>G (p.Ala7=)
|
|
|
NM_005045.4(RELN):c.2254G>T (p.Asp752Tyr)
|
|
|
NM_005045.4(RELN):c.226+14del
|
|
|
NM_005045.4(RELN):c.226+20C>A
|
|
|
NM_005045.4(RELN):c.226+9C>T
|
|
|
NM_005045.4(RELN):c.2268G>A (p.Gln756=)
|
|
|
NM_005045.4(RELN):c.227-13_227-10del
|
rs1584364699
|
|
NM_005045.4(RELN):c.227-16C>G
|
|
|
NM_005045.4(RELN):c.227-8C>T
|
|
|
NM_005045.4(RELN):c.2280T>A (p.Ser760=)
|
rs1182042456
|
|
NM_005045.4(RELN):c.2303+13A>T
|
rs749050816
|
|
NM_005045.4(RELN):c.2304-13A>C
|
rs774202843
|
|
NM_005045.4(RELN):c.2304-14C>T
|
|
|
NM_005045.4(RELN):c.2304-17A>G
|
|
|
NM_005045.4(RELN):c.2304-6G>T
|
rs377074345
|
|
NM_005045.4(RELN):c.2322G>T (p.Leu774=)
|
|
|
NM_005045.4(RELN):c.2328G>A (p.Leu776=)
|
|
|
NM_005045.4(RELN):c.2344C>T (p.Leu782=)
|
rs909588341
|
|
NM_005045.4(RELN):c.2408A>G (p.Asn803Ser)
|
|
|
NM_005045.4(RELN):c.2415A>T (p.Ile805=)
|
rs2117348683
|
|
NM_005045.4(RELN):c.2418T>G (p.Thr806=)
|
|
|
NM_005045.4(RELN):c.2439T>C (p.Tyr813=)
|
rs2117348607
|
|
NM_005045.4(RELN):c.2460G>A (p.Glu820=)
|
rs1832558211
|
|
NM_005045.4(RELN):c.2465+10A>G
|
|
|
NM_005045.4(RELN):c.2465+14_2465+15insCCCAAATGTTACAAAC
|
|
|
NM_005045.4(RELN):c.2465+15A>G
|
|
|
NM_005045.4(RELN):c.2465+15A>T
|
|
|
NM_005045.4(RELN):c.2466-4C>G
|
|
|
NM_005045.4(RELN):c.2466-8T>C
|
|
|
NM_005045.4(RELN):c.2466-9T>C
|
rs750702751
|
|
NM_005045.4(RELN):c.249T>C (p.Phe83=)
|
|
|
NM_005045.4(RELN):c.2532G>C (p.Pro844=)
|
rs113842330
|
|
NM_005045.4(RELN):c.2590G>A (p.Val864Met)
|
|
|
NM_005045.4(RELN):c.2619T>C (p.Phe873=)
|
|
|
NM_005045.4(RELN):c.2634G>A (p.Glu878=)
|
|
|
NM_005045.4(RELN):c.26A>G (p.Gln9Arg)
|
rs115165703
|
|
NM_005045.4(RELN):c.2700T>G (p.Leu900=)
|
rs1832414830
|
|
NM_005045.4(RELN):c.2702+12A>G
|
|
|
NM_005045.4(RELN):c.2703-12T>C
|
rs2117292028
|
|
NM_005045.4(RELN):c.2703-13_2703-12del
|
rs1451447613
|
|
NM_005045.4(RELN):c.2703-16T>C
|
|
|
NM_005045.4(RELN):c.2703-17A>G
|
|
|
NM_005045.4(RELN):c.2709A>G (p.Thr903=)
|
rs2117291992
|
|
NM_005045.4(RELN):c.2724T>C (p.Leu908=)
|
|
|
NM_005045.4(RELN):c.2724T>G (p.Leu908=)
|
|
|
NM_005045.4(RELN):c.2787G>A (p.Gln929=)
|
rs2117291748
|
|
NM_005045.4(RELN):c.2794T>C (p.Leu932=)
|
|
|
NM_005045.4(RELN):c.279C>T (p.Tyr93=)
|
rs2116670576
|
|
NM_005045.4(RELN):c.2805A>T (p.Gly935=)
|
|
|
NM_005045.4(RELN):c.2820C>T (p.Tyr940=)
|
rs944317418
|
|
NM_005045.4(RELN):c.282A>G (p.Thr94=)
|
rs1795500689
|
|
NM_005045.4(RELN):c.2850G>A (p.Leu950=)
|
|
|
NM_005045.4(RELN):c.2856C>T (p.Tyr952=)
|
rs1562921907
|
|
NM_005045.4(RELN):c.2862C>G (p.Thr954=)
|
|
|
NM_005045.4(RELN):c.2862C>T (p.Thr954=)
|
rs1831960601
|
|
NM_005045.4(RELN):c.2877C>T (p.Thr959=)
|
|
|
NM_005045.4(RELN):c.288A>G (p.Thr96=)
|
|
|
NM_005045.4(RELN):c.2892A>G (p.Gln964=)
|
|
|
NM_005045.4(RELN):c.2895+12T>C
|
|
|
NM_005045.4(RELN):c.2895+12T>G
|
rs368245637
|
|
NM_005045.4(RELN):c.2895+12_2895+13dup
|
|
|
NM_005045.4(RELN):c.2896-11del
|
rs2117289186
|
|
NM_005045.4(RELN):c.2896-13_2896-10del
|
|
|
NM_005045.4(RELN):c.2934A>C (p.Thr978=)
|
rs1831933950
|
|
NM_005045.4(RELN):c.2937A>G (p.Ser979=)
|
rs1831933873
|
|
NM_005045.4(RELN):c.2941A>G (p.Ser981Gly)
|
|
|
NM_005045.4(RELN):c.3008+13C>A
|
rs974369522
|
|
NM_005045.4(RELN):c.3008+17A>G
|
|
|
NM_005045.4(RELN):c.3009-13A>T
|
|
|
NM_005045.4(RELN):c.3009-16T>C
|
|
|
NM_005045.4(RELN):c.3009-20A>G
|
|
|
NM_005045.4(RELN):c.3012C>A (p.Ser1004=)
|
|
|
NM_005045.4(RELN):c.3018T>C (p.Ala1006=)
|
|
|
NM_005045.4(RELN):c.3030C>T (p.Arg1010=)
|
rs375739415
|
|
NM_005045.4(RELN):c.3036C>T (p.Ser1012=)
|
|
|
NM_005045.4(RELN):c.303A>G (p.Ser101=)
|
|
|
NM_005045.4(RELN):c.3057A>G (p.Gln1019=)
|
|
|
NM_005045.4(RELN):c.306G>A (p.Gln102=)
|
|
|
NM_005045.4(RELN):c.3096G>A (p.Gln1032=)
|
rs767711257
|
|
NM_005045.4(RELN):c.309C>T (p.Ser103=)
|
|
|
NM_005045.4(RELN):c.3126A>C (p.Ser1042=)
|
|
|
NM_005045.4(RELN):c.3165A>G (p.Gln1055=)
|
|
|
NM_005045.4(RELN):c.3170C>T (p.Thr1057Ile)
|
|
|
NM_005045.4(RELN):c.3171T>C (p.Thr1057=)
|
rs2117271796
|
|
NM_005045.4(RELN):c.3234C>T (p.Gly1078=)
|
|
|
NM_005045.4(RELN):c.3282A>G (p.Pro1094=)
|
rs1281926093
|
|
NM_005045.4(RELN):c.3303C>T (p.Ile1101=)
|
rs1285840374
|
|
NM_005045.4(RELN):c.3315A>G (p.Ser1105=)
|
rs886042201
|
|
NM_005045.4(RELN):c.3333+8C>T
|
rs1482310315
|
|
NM_005045.4(RELN):c.3334-19T>A
|
|
|
NM_005045.4(RELN):c.3351G>C (p.Leu1117=)
|
rs1584329052
|
|
NM_005045.4(RELN):c.337+10T>G
|
rs2116670302
|
|
NM_005045.4(RELN):c.337+11C>G
|
|
|
NM_005045.4(RELN):c.338-16C>G
|
|
|
NM_005045.4(RELN):c.338-18C>G
|
rs769855701
|
|
NM_005045.4(RELN):c.338-7C>G
|
rs1423275203
|
|
NM_005045.4(RELN):c.3402C>A (p.Ile1134=)
|
|
|
NM_005045.4(RELN):c.3429C>T (p.Cys1143=)
|
|
|
NM_005045.4(RELN):c.3447A>G (p.Arg1149=)
|
rs2117255059
|
|
NM_005045.4(RELN):c.344T>C (p.Met115Thr)
|
|
|
NM_005045.4(RELN):c.3450G>A (p.Glu1150=)
|
|
|
NM_005045.4(RELN):c.3457G>A (p.Val1153Ile)
|
|
|
NM_005045.4(RELN):c.3479A>G (p.Asn1160Ser)
|
|
|
NM_005045.4(RELN):c.3483G>A (p.Gly1161=)
|
rs1254504314
|
|
NM_005045.4(RELN):c.3515A>G (p.Tyr1172Cys)
|
|
|
NM_005045.4(RELN):c.3539+15G>C
|
|
|
NM_005045.4(RELN):c.3540-16A>T
|
|
|
NM_005045.4(RELN):c.3576C>T (p.Thr1192=)
|
rs768983701
|
|
NM_005045.4(RELN):c.3606C>A (p.Pro1202=)
|
|
|
NM_005045.4(RELN):c.3606C>T (p.Pro1202=)
|
rs747919198
|
|
NM_005045.4(RELN):c.3618G>A (p.Gly1206=)
|
|
|
NM_005045.4(RELN):c.3620A>G (p.Glu1207Gly)
|
|
|
NM_005045.4(RELN):c.3630C>T (p.Asp1210=)
|
|
|
NM_005045.4(RELN):c.3648C>T (p.Asp1216=)
|
rs2117250164
|
|
NM_005045.4(RELN):c.3660G>A (p.Leu1220=)
|
|
|
NM_005045.4(RELN):c.3670C>G (p.Gln1224Glu)
|
rs549360134
|
|
NM_005045.4(RELN):c.3711+10T>C
|
rs992902436
|
|
NM_005045.4(RELN):c.3711+11A>G
|
|
|
NM_005045.4(RELN):c.3726G>A (p.Lys1242=)
|
|
|
NM_005045.4(RELN):c.3785G>A (p.Gly1262Glu)
|
|
|
NM_005045.4(RELN):c.3786A>G (p.Gly1262=)
|
rs577453361
|
|
NM_005045.4(RELN):c.3816C>A (p.Ala1272=)
|
rs1355782479
|
|
NM_005045.4(RELN):c.3828A>G (p.Ala1276=)
|
|
|
NM_005045.4(RELN):c.384G>A (p.Val128=)
|
rs1793327868
|
|
NM_005045.4(RELN):c.3900G>A (p.Val1300=)
|
|
|
NM_005045.4(RELN):c.3912+15G>C
|
|
|
NM_005045.4(RELN):c.3912+19C>A
|
|
|
NM_005045.4(RELN):c.3912+8T>C
|
|
|
NM_005045.4(RELN):c.3913-6T>C
|
rs2117240030
|
|
NM_005045.4(RELN):c.3913-6dup
|
rs781655960
|
|
NM_005045.4(RELN):c.3924T>A (p.Gly1308=)
|
rs1584322870
|
|
NM_005045.4(RELN):c.3936A>G (p.Gln1312=)
|
|
|
NM_005045.4(RELN):c.39A>G (p.Leu13=)
|
|
|
NM_005045.4(RELN):c.4002G>A (p.Val1334=)
|
rs2117239802
|
|
NM_005045.4(RELN):c.4011C>T (p.Gly1337=)
|
|
|
NM_005045.4(RELN):c.4032C>G (p.Gly1344=)
|
rs751196307
|
|
NM_005045.4(RELN):c.4032C>T (p.Gly1344=)
|
|
|
NM_005045.4(RELN):c.4092C>T (p.Asp1364=)
|
|
|
NM_005045.4(RELN):c.4097A>G (p.Glu1366Gly)
|
|
|
NM_005045.4(RELN):c.4110A>G (p.Arg1370=)
|
rs1584322632
|
|
NM_005045.4(RELN):c.4140A>C (p.Ala1380=)
|
rs368469945
|
|
NM_005045.4(RELN):c.4145+11C>G
|
rs761694952
|
|
NM_005045.4(RELN):c.4146-13T>C
|
|
|
NM_005045.4(RELN):c.4146-7C>T
|
|
|
NM_005045.4(RELN):c.4150A>T (p.Thr1384Ser)
|
|
|
NM_005045.4(RELN):c.4218G>A (p.Val1406=)
|
rs2117208313
|
|
NM_005045.4(RELN):c.4222A>G (p.Ile1408Val)
|
|
|
NM_005045.4(RELN):c.4230G>A (p.Glu1410=)
|
rs184601053
|
|
NM_005045.4(RELN):c.4248C>T (p.Cys1416=)
|
rs1584310055
|
|
NM_005045.4(RELN):c.4257T>A (p.His1419Gln)
|
rs138924805
|
|
NM_005045.4(RELN):c.4257T>C (p.His1419=)
|
rs138924805
|
|
NM_005045.4(RELN):c.4266C>T (p.Cys1422=)
|
|
|
NM_005045.4(RELN):c.4303+20T>A
|
|
|
NM_005045.4(RELN):c.4304-12C>A
|
rs2117205650
|
|
NM_005045.4(RELN):c.4304-16A>C
|
|
|
NM_005045.4(RELN):c.4304-16A>G
|
|
|
NM_005045.4(RELN):c.4304-20C>T
|
|
|
NM_005045.4(RELN):c.4304-9T>C
|
rs1830949017
|
|
NM_005045.4(RELN):c.4317C>T (p.Thr1439=)
|
rs1584308792
|
|
NM_005045.4(RELN):c.4320T>C (p.Cys1440=)
|
rs1584308763
|
|
NM_005045.4(RELN):c.4347G>A (p.Glu1449=)
|
|
|
NM_005045.4(RELN):c.4356T>C (p.Asp1452=)
|
|
|
NM_005045.4(RELN):c.4374C>T (p.Leu1458=)
|
rs1584308677
|
|
NM_005045.4(RELN):c.4383G>A (p.Leu1461=)
|
|
|
NM_005045.4(RELN):c.4428A>C (p.Thr1476=)
|
rs376838638
|
|
NM_005045.4(RELN):c.4428A>T (p.Thr1476=)
|
|
|
NM_005045.4(RELN):c.4434C>T (p.Asn1478=)
|
rs375118721
|
|
NM_005045.4(RELN):c.4485G>A (p.Thr1495=)
|
rs542018962
|
|
NM_005045.4(RELN):c.4485G>T (p.Thr1495=)
|
rs542018962
|
|
NM_005045.4(RELN):c.4512-18A>G
|
rs2117201107
|
|
NM_005045.4(RELN):c.4560C>G (p.Thr1520=)
|
|
|
NM_005045.4(RELN):c.4568A>T (p.Lys1523Ile)
|
rs749573055
|
|
NM_005045.4(RELN):c.4589-4T>A
|
|
|
NM_005045.4(RELN):c.4589-4T>G
|
|
|
NM_005045.4(RELN):c.459C>T (p.Gly153=)
|
rs766219103
|
|
NM_005045.4(RELN):c.4602G>A (p.Gln1534=)
|
rs2117189494
|
|
NM_005045.4(RELN):c.4630C>T (p.His1544Tyr)
|
rs373010833
|
|
NM_005045.4(RELN):c.4674G>A (p.Gln1558=)
|
rs1030831529
|
|
NM_005045.4(RELN):c.4702G>A (p.Ala1568Thr)
|
|
|
NM_005045.4(RELN):c.4704G>T (p.Ala1568=)
|
rs780749647
|
|
NM_005045.4(RELN):c.473+13del
|
|
|
NM_005045.4(RELN):c.473+8C>T
|
rs2116408520
|
|
NM_005045.4(RELN):c.474-12A>G
|
|
|
NM_005045.4(RELN):c.4743A>G (p.Gln1581=)
|
|
|
NM_005045.4(RELN):c.4747+12C>G
|
|
|
NM_005045.4(RELN):c.4747+18C>T
|
|
|
NM_005045.4(RELN):c.4748-10C>A
|
|
|
NM_005045.4(RELN):c.4748-12A>T
|
rs1830753146
|
|
NM_005045.4(RELN):c.4748-14T>G
|
|
|
NM_005045.4(RELN):c.4748-6T>C
|
rs1025031303
|
|
NM_005045.4(RELN):c.480A>G (p.Thr160=)
|
rs2116212274
|
|
NM_005045.4(RELN):c.4838C>G (p.Ser1613Cys)
|
|
|
NM_005045.4(RELN):c.4846T>C (p.Leu1616=)
|
|
|
NM_005045.4(RELN):c.4848G>A (p.Leu1616=)
|
rs200733882
|
|
NM_005045.4(RELN):c.4914T>C (p.Ala1638=)
|
rs2117188166
|
|
NM_005045.4(RELN):c.4926T>A (p.Thr1642=)
|
|
|
NM_005045.4(RELN):c.4931A>C (p.Asn1644Thr)
|
|
|
NM_005045.4(RELN):c.4933A>T (p.Ile1645Leu)
|
|
|
NM_005045.4(RELN):c.4937-12T>C
|
|
|
NM_005045.4(RELN):c.4937-14_4937-12dup
|
rs35268159
|
|
NM_005045.4(RELN):c.4937-18C>A
|
rs771475932
|
|
NM_005045.4(RELN):c.4937-18C>T
|
|
|
NM_005045.4(RELN):c.4937-19A>G
|
rs2117186745
|
|
NM_005045.4(RELN):c.4937-9_4937-8insG
|
rs1584300778
|
|
NM_005045.4(RELN):c.4941A>G (p.Lys1647=)
|
rs2117186661
|
|
NM_005045.4(RELN):c.498G>A (p.Gln166=)
|
|
|
NM_005045.4(RELN):c.4990T>C (p.Leu1664=)
|
rs1830730714
|
|
NM_005045.4(RELN):c.5006G>C (p.Ser1669Thr)
|
|
|
NM_005045.4(RELN):c.5011G>C (p.Gly1671Arg)
|
rs939943472
|
|
NM_005045.4(RELN):c.5034C>T (p.Asn1678=)
|
|
|
NM_005045.4(RELN):c.5043T>C (p.Ser1681=)
|
rs1830728823
|
|
NM_005045.4(RELN):c.5094C>T (p.Thr1698=)
|
|
|
NM_005045.4(RELN):c.5115C>G (p.Thr1705=)
|
rs139945641
|
|
NM_005045.4(RELN):c.5199A>G (p.Pro1733=)
|
|
|
NM_005045.4(RELN):c.5204C>T (p.Ser1735Phe)
|
|
|
NM_005045.4(RELN):c.5210+16T>C
|
|
|
NM_005045.4(RELN):c.5210+9T>C
|
|
|
NM_005045.4(RELN):c.5211-18T>G
|
|
|
NM_005045.4(RELN):c.5211-19_5211-18insG
|
|
|
NM_005045.4(RELN):c.5211-20_5211-19insG
|
rs2117178973
|
|
NM_005045.4(RELN):c.5211-5G>C
|
|
|
NM_005045.4(RELN):c.5211-8T>A
|
rs763806459
|
|
NM_005045.4(RELN):c.5211-8T>G
|
|
|
NM_005045.4(RELN):c.5224C>A (p.Arg1742=)
|
rs771039313
|
|
NM_005045.4(RELN):c.5274G>A (p.Ala1758=)
|
rs139102992
|
|
NM_005045.4(RELN):c.528G>A (p.Gln176=)
|
|
|
NM_005045.4(RELN):c.5295C>T (p.Ala1765=)
|
|
|
NM_005045.4(RELN):c.5352-13C>T
|
|
|
NM_005045.4(RELN):c.5352-13CT[2]
|
|
|
NM_005045.4(RELN):c.5352-14C>T
|
|
|
NM_005045.4(RELN):c.5352-5C>G
|
|
|
NM_005045.4(RELN):c.5360G>A (p.Arg1787Gln)
|
rs372887562
|
|
NM_005045.4(RELN):c.5360G>C (p.Arg1787Pro)
|
rs372887562
|
|
NM_005045.4(RELN):c.5426A>G (p.Asn1809Ser)
|
|
|
NM_005045.4(RELN):c.544+16G>A
|
|
|
NM_005045.4(RELN):c.545-14C>T
|
|
|
NM_005045.4(RELN):c.545-16T>C
|
rs2116085030
|
|
NM_005045.4(RELN):c.5460G>T (p.Val1820=)
|
|
|
NM_005045.4(RELN):c.5465G>C (p.Gly1822Ala)
|
rs141734678
|
|
NM_005045.4(RELN):c.5466T>G (p.Gly1822=)
|
|
|
NM_005045.4(RELN):c.5475G>A (p.Arg1825=)
|
|
|
NM_005045.4(RELN):c.5487T>C (p.Asn1829=)
|
|
|
NM_005045.4(RELN):c.54G>A (p.Gly18=)
|
rs1272611137
|
|
NM_005045.4(RELN):c.5502A>G (p.Lys1834=)
|
rs1830641622
|
|
NM_005045.4(RELN):c.5505T>C (p.Ser1835=)
|
|
|
NM_005045.4(RELN):c.5526A>G (p.Lys1842=)
|
|
|
NM_005045.4(RELN):c.5529+18T>C
|
|
|
NM_005045.4(RELN):c.5529+9C>T
|
|
|
NM_005045.4(RELN):c.5530-12T>G
|
|
|
NM_005045.4(RELN):c.5530-15T>C
|
|
|
NM_005045.4(RELN):c.5530-16A>T
|
|
|
NM_005045.4(RELN):c.5553A>C (p.Ser1851=)
|
|
|
NM_005045.4(RELN):c.5578A>T (p.Met1860Leu)
|
rs771668501
|
|
NM_005045.4(RELN):c.5614+12T>A
|
rs1043701055
|
|
NM_005045.4(RELN):c.5614+16T>C
|
rs1830561348
|
|
NM_005045.4(RELN):c.5614+18A>T
|
|
|
NM_005045.4(RELN):c.5614+7A>G
|
rs781311910
|
|
NM_005045.4(RELN):c.5614+8T>C
|
|
|
NM_005045.4(RELN):c.5615-5C>T
|
rs1185133754
|
|
NM_005045.4(RELN):c.5633A>G (p.His1878Arg)
|
|
|
NM_005045.4(RELN):c.5636C>T (p.Ser1879Phe)
|
|
|
NM_005045.4(RELN):c.5652C>A (p.Phe1884Leu)
|
|
|
NM_005045.4(RELN):c.5655C>T (p.Ser1885=)
|
rs558373106
|
|
NM_005045.4(RELN):c.5682G>A (p.Leu1894=)
|
rs2117168013
|
|
NM_005045.4(RELN):c.5712G>A (p.Thr1904=)
|
rs1293070633
|
|
NM_005045.4(RELN):c.5742A>C (p.Pro1914=)
|
rs973154658
|
|
NM_005045.4(RELN):c.5746A>C (p.Thr1916Pro)
|
rs768731886
|
|
NM_005045.4(RELN):c.577+13G>C
|
|
|
NM_005045.4(RELN):c.577+15C>T
|
|
|
NM_005045.4(RELN):c.577+16T>C
|
|
|
NM_005045.4(RELN):c.578-12_578-11insC
|
|
|
NM_005045.4(RELN):c.578-17C>T
|
|
|
NM_005045.4(RELN):c.5797+11A>G
|
rs765957925
|
|
NM_005045.4(RELN):c.5797+11A>T
|
rs765957925
|
|
NM_005045.4(RELN):c.5797+13G>A
|
|
|
NM_005045.4(RELN):c.5797+18C>T
|
|
|
NM_005045.4(RELN):c.5797+19T>C
|
rs202190286
|
|
NM_005045.4(RELN):c.5826T>C (p.Asp1942=)
|
rs2117160092
|
|
NM_005045.4(RELN):c.582A>G (p.Glu194=)
|
|
|
NM_005045.4(RELN):c.5856C>T (p.Asn1952=)
|
rs375228702
|
|
NM_005045.4(RELN):c.587A>G (p.His196Arg)
|
|
|
NM_005045.4(RELN):c.5901A>G (p.Glu1967=)
|
rs943982931
|
|
NM_005045.4(RELN):c.5907T>C (p.Asn1969=)
|
|
|
NM_005045.4(RELN):c.5937T>A (p.Gly1979=)
|
|
|
NM_005045.4(RELN):c.5969+18A>G
|
|
|
NM_005045.4(RELN):c.5970-14T>C
|
|
|
NM_005045.4(RELN):c.5970-15T>G
|
|
|
NM_005045.4(RELN):c.5970-17G>A
|
|
|
NM_005045.4(RELN):c.5970-7G>A
|
rs755935071
|
|
NM_005045.4(RELN):c.5982A>G (p.Ser1994=)
|
rs1387852441
|
|
NM_005045.4(RELN):c.6015G>A (p.Glu2005=)
|
rs1287656164
|
|
NM_005045.4(RELN):c.6042T>C (p.Asn2014=)
|
|
|
NM_005045.4(RELN):c.6072+9C>G
|
|
|
NM_005045.4(RELN):c.6073-19T>G
|
|
|
NM_005045.4(RELN):c.6081T>C (p.Val2027=)
|
rs2117153642
|
|
NM_005045.4(RELN):c.6090G>A (p.Ser2030=)
|
|
|
NM_005045.4(RELN):c.60G>C (p.Thr20=)
|
|
|
NM_005045.4(RELN):c.6108G>A (p.Ala2036=)
|
|
|
NM_005045.4(RELN):c.6117G>A (p.Val2039=)
|
rs987328360
|
|
NM_005045.4(RELN):c.6120A>G (p.Arg2040=)
|
|
|
NM_005045.4(RELN):c.6121C>G (p.Leu2041Val)
|
rs1425847673
|
|
NM_005045.4(RELN):c.6121C>T (p.Leu2041=)
|
rs1425847673
|
|
NM_005045.4(RELN):c.6146C>A (p.Ala2049Glu)
|
rs374232523
|
|
NM_005045.4(RELN):c.6146C>T (p.Ala2049Val)
|
rs374232523
|
|
NM_005045.4(RELN):c.6156C>T (p.His2052=)
|
rs2117153360
|
|
NM_005045.4(RELN):c.6180C>T (p.His2060=)
|
rs753051747
|
|
NM_005045.4(RELN):c.61C>T (p.Leu21=)
|
rs1797172669
|
|
NM_005045.4(RELN):c.6225C>T (p.Pro2075=)
|
|
|
NM_005045.4(RELN):c.6254A>G (p.Gln2085Arg)
|
|
|
NM_005045.4(RELN):c.6267G>A (p.Arg2089=)
|
|
|
NM_005045.4(RELN):c.6270G>A (p.Glu2090=)
|
|
|
NM_005045.4(RELN):c.6276G>A (p.Val2092=)
|
rs2117152985
|
|
NM_005045.4(RELN):c.6279C>T (p.His2093=)
|
rs1830399411
|
|
NM_005045.4(RELN):c.627C>T (p.Tyr209=)
|
rs2116064464
|
|
NM_005045.4(RELN):c.6302+11G>C
|
rs763643417
|
|
NM_005045.4(RELN):c.6302+11G>T
|
|
|
NM_005045.4(RELN):c.6302+8C>T
|
|
|
NM_005045.4(RELN):c.6303-7T>C
|
rs2117140163
|
|
NM_005045.4(RELN):c.6307G>A (p.Val2103Ile)
|
|
|
NM_005045.4(RELN):c.6366C>T (p.Ala2122=)
|
rs2117139992
|
|
NM_005045.4(RELN):c.6393G>A (p.Gln2131=)
|
|
|
NM_005045.4(RELN):c.6420G>A (p.Gly2140=)
|
rs1830265807
|
|
NM_005045.4(RELN):c.6429C>T (p.Ile2143=)
|
rs1554374836
|
|
NM_005045.4(RELN):c.6447A>T (p.Ile2149=)
|
rs2117139766
|
|
NM_005045.4(RELN):c.6450T>C (p.Cys2150=)
|
|
|
NM_005045.4(RELN):c.6459C>T (p.Gly2153=)
|
rs1221972784
|
|
NM_005045.4(RELN):c.6523+11C>G
|
rs556879542
|
|
NM_005045.4(RELN):c.656+10A>G
|
|
|
NM_005045.4(RELN):c.656+11G>A
|
|
|
NM_005045.4(RELN):c.656+15C>T
|
|
|
NM_005045.4(RELN):c.656+7dup
|
rs768445353
|
|
NM_005045.4(RELN):c.6564G>C (p.Gly2188=)
|
rs2117134600
|
|
NM_005045.4(RELN):c.657-13T>C
|
rs2115935052
|
|
NM_005045.4(RELN):c.657-14C>A
|
|
|
NM_005045.4(RELN):c.65G>A (p.Arg22Lys)
|
rs139532757
|
|
NM_005045.4(RELN):c.6606C>T (p.Asn2202=)
|
|
|
NM_005045.4(RELN):c.6609C>T (p.Leu2203=)
|
|
|
NM_005045.4(RELN):c.6624T>C (p.Asp2208=)
|
rs775403428
|
|
NM_005045.4(RELN):c.6630G>A (p.Leu2210=)
|
rs2117134402
|
|
NM_005045.4(RELN):c.6651C>T (p.Asp2217=)
|
|
|
NM_005045.4(RELN):c.6671+18C>A
|
rs2117134234
|
|
NM_005045.4(RELN):c.6671+20_6671+21del
|
rs2117134222
|
|
NM_005045.4(RELN):c.6672-14T>C
|
rs2117129927
|
|
NM_005045.4(RELN):c.6672-16C>A
|
rs79610318
|
|
NM_005045.4(RELN):c.6712G>A (p.Val2238Ile)
|
|
|
NM_005045.4(RELN):c.6723C>T (p.Pro2241=)
|
rs2117129751
|
|
NM_005045.4(RELN):c.6735C>G (p.Pro2245=)
|
rs1158442529
|
|
NM_005045.4(RELN):c.6747G>A (p.Gln2249=)
|
|
|
NM_005045.4(RELN):c.6756C>A (p.Leu2252=)
|
|
|
NM_005045.4(RELN):c.6756C>T (p.Leu2252=)
|
rs773766190
|
|
NM_005045.4(RELN):c.6766C>T (p.Leu2256Phe)
|
|
|
NM_005045.4(RELN):c.678G>A (p.Glu226=)
|
rs1790261623
|
|
NM_005045.4(RELN):c.6819C>A (p.Gly2273=)
|
|
|
NM_005045.4(RELN):c.6842C>T (p.Pro2281Leu)
|
|
|
NM_005045.4(RELN):c.6843C>T (p.Pro2281=)
|
|
|
NM_005045.4(RELN):c.6844T>C (p.Leu2282=)
|
rs2117129395
|
|
NM_005045.4(RELN):c.684A>G (p.Gly228=)
|
|
|
NM_005045.4(RELN):c.6855T>C (p.Arg2285=)
|
rs2117129357
|
|
NM_005045.4(RELN):c.6880T>A (p.Trp2294Arg)
|
|
|
NM_005045.4(RELN):c.6888G>T (p.Pro2296=)
|
rs142792443
|
|
NM_005045.4(RELN):c.68C>T (p.Ala23Val)
|
|
|
NM_005045.4(RELN):c.6912C>T (p.Ser2304=)
|
rs2117129177
|
|
NM_005045.4(RELN):c.6930+7C>T
|
rs1341176883
|
|
NM_005045.4(RELN):c.6931-15A>T
|
|
|
NM_005045.4(RELN):c.6931-16T>A
|
rs1229118503
|
|
NM_005045.4(RELN):c.6931-8C>T
|
rs2117127131
|
|
NM_005045.4(RELN):c.6933T>C (p.Ile2311=)
|
|
|
NM_005045.4(RELN):c.6963G>A (p.Thr2321=)
|
rs577520481
|
|
NM_005045.4(RELN):c.6963G>T (p.Thr2321=)
|
|
|
NM_005045.4(RELN):c.696C>T (p.Gly232=)
|
|
|
NM_005045.4(RELN):c.6976G>A (p.Asp2326Asn)
|
rs768054802
|
|
NM_005045.4(RELN):c.6999G>A (p.Arg2333=)
|
|
|
NM_005045.4(RELN):c.7013A>T (p.His2338Leu)
|
|
|
NM_005045.4(RELN):c.7020A>T (p.Gly2340=)
|
rs776285507
|
|
NM_005045.4(RELN):c.7054G>T (p.Asp2352Tyr)
|
rs375751630
|
|
NM_005045.4(RELN):c.708T>C (p.His236=)
|
rs1790260665
|
|
NM_005045.4(RELN):c.7092C>T (p.Tyr2364=)
|
rs1161199450
|
|
NM_005045.4(RELN):c.7113C>T (p.Ala2371=)
|
rs756738550
|
|
NM_005045.4(RELN):c.714T>C (p.Asn238=)
|
|
|
NM_005045.4(RELN):c.7164C>T (p.Val2388=)
|
|
|
NM_005045.4(RELN):c.7180+11C>A
|
|
|
NM_005045.4(RELN):c.7180+11C>T
|
|
|
NM_005045.4(RELN):c.7180+12G>C
|
|
|
NM_005045.4(RELN):c.7180+7A>G
|
rs1830119075
|
|
NM_005045.4(RELN):c.7181-13T>C
|
|
|
NM_005045.4(RELN):c.7188A>G (p.Glu2396=)
|
rs776781331
|
|
NM_005045.4(RELN):c.7224C>T (p.His2408=)
|
|
|
NM_005045.4(RELN):c.7266T>A (p.Ser2422Arg)
|
|
|
NM_005045.4(RELN):c.7270T>C (p.Tyr2424His)
|
|
|
NM_005045.4(RELN):c.7276C>T (p.Leu2426=)
|
|
|
NM_005045.4(RELN):c.7287C>A (p.Ile2429=)
|
rs915583909
|
|
NM_005045.4(RELN):c.7290G>A (p.Leu2430=)
|
|
|
NM_005045.4(RELN):c.732A>G (p.Glu244=)
|
rs2115934532
|
|
NM_005045.4(RELN):c.7344T>C (p.Tyr2448=)
|
rs2117118185
|
|
NM_005045.4(RELN):c.7349+10C>T
|
rs1830024784
|
|
NM_005045.4(RELN):c.7349+13C>G
|
|
|
NM_005045.4(RELN):c.7349+13C>T
|
|
|
NM_005045.4(RELN):c.7349+9G>A
|
|
|
NM_005045.4(RELN):c.7350-14C>T
|
rs113913170
|
|
NM_005045.4(RELN):c.7350-16C>A
|
|
|
NM_005045.4(RELN):c.7350-16C>G
|
|
|
NM_005045.4(RELN):c.7350-6dup
|
rs1325259154
|
|
NM_005045.4(RELN):c.7350-8C>T
|
rs2117095032
|
|
NM_005045.4(RELN):c.7365T>C (p.Arg2455=)
|
|
|
NM_005045.4(RELN):c.7368C>T (p.Phe2456=)
|
|
|
NM_005045.4(RELN):c.7383A>G (p.Pro2461=)
|
|
|
NM_005045.4(RELN):c.7414A>G (p.Ile2472Val)
|
|
|
NM_005045.4(RELN):c.7431C>A (p.Ile2477=)
|
rs775529885
|
|
NM_005045.4(RELN):c.7445T>C (p.Ile2482Thr)
|
rs1193227613
|
|
NM_005045.4(RELN):c.7490+13T>C
|
|
|
NM_005045.4(RELN):c.7490+8G>A
|
|
|
NM_005045.4(RELN):c.7490+8G>T
|
|
|
NM_005045.4(RELN):c.7491-12C>A
|
rs371778831
|
|
NM_005045.4(RELN):c.7491-12C>G
|
rs371778831
|
|
NM_005045.4(RELN):c.7491-12C>T
|
|
|
NM_005045.4(RELN):c.7491-15T>A
|
|
|
NM_005045.4(RELN):c.7491-5C>T
|
|
|
NM_005045.4(RELN):c.7491-6A>G
|
|
|
NM_005045.4(RELN):c.7491-8G>A
|
|
|
NM_005045.4(RELN):c.7511G>A (p.Gly2504Asp)
|
|
|
NM_005045.4(RELN):c.754-13C>A
|
|
|
NM_005045.4(RELN):c.754-20A>G
|
|
|
NM_005045.4(RELN):c.7587G>A (p.Gln2529=)
|
|
|
NM_005045.4(RELN):c.7599T>G (p.Thr2533=)
|
|
|
NM_005045.4(RELN):c.7602G>A (p.Val2534=)
|
rs2117092146
|
|
NM_005045.4(RELN):c.7605C>T (p.Asn2535=)
|
rs750764421
|
|
NM_005045.4(RELN):c.7615T>C (p.Leu2539=)
|
|
|
NM_005045.4(RELN):c.7625T>C (p.Val2542Ala)
|
|
|
NM_005045.4(RELN):c.7626G>A (p.Val2542=)
|
rs2117092082
|
|
NM_005045.4(RELN):c.7632A>G (p.Gly2544=)
|
|
|
NM_005045.4(RELN):c.7643C>T (p.Ser2548Leu)
|
|
|
NM_005045.4(RELN):c.7644G>C (p.Ser2548=)
|
|
|
NM_005045.4(RELN):c.765C>T (p.Gly255=)
|
|
|
NM_005045.4(RELN):c.7668+15G>A
|
|
|
NM_005045.4(RELN):c.7668+8_7668+9delinsAG
|
rs1584261648
|
|
NM_005045.4(RELN):c.7668+9T>C
|
|
|
NM_005045.4(RELN):c.7669-11C>A
|
rs1379560978
|
|
NM_005045.4(RELN):c.7669-31_7669-20del
|
|
|
NM_005045.4(RELN):c.7669-5C>T
|
|
|
NM_005045.4(RELN):c.7678C>A (p.Arg2560=)
|
rs1829651533
|
|
NM_005045.4(RELN):c.7725C>T (p.Ile2575=)
|
rs2117085893
|
|
NM_005045.4(RELN):c.7752G>A (p.Leu2584=)
|
rs2117085861
|
|
NM_005045.4(RELN):c.7803T>C (p.Asn2601=)
|
|
|
NM_005045.4(RELN):c.780A>C (p.Thr260=)
|
rs1420888480
|
|
NM_005045.4(RELN):c.7815C>T (p.Thr2605=)
|
|
|
NM_005045.4(RELN):c.7851C>T (p.Tyr2617=)
|
|
|
NM_005045.4(RELN):c.7862+11G>A
|
rs753148540
|
|
NM_005045.4(RELN):c.7862+11G>C
|
|
|
NM_005045.4(RELN):c.7862+12A>G
|
|
|
NM_005045.4(RELN):c.7862+7A>G
|
rs922719168
|
|
NM_005045.4(RELN):c.7863-13C>A
|
|
|
NM_005045.4(RELN):c.7863-13C>T
|
|
|
NM_005045.4(RELN):c.7863-18C>A
|
|
|
NM_005045.4(RELN):c.7863-18C>T
|
rs750003552
|
|
NM_005045.4(RELN):c.7863-19C>T
|
|
|
NM_005045.4(RELN):c.7863-21_7863-17del
|
rs764158104
|
|
NM_005045.4(RELN):c.7863-4A>G
|
|
|
NM_005045.4(RELN):c.7863-6C>T
|
rs778281268
|
|
NM_005045.4(RELN):c.789C>T (p.Val263=)
|
|
|
NM_005045.4(RELN):c.78G>C (p.Ala26=)
|
rs1196068638
|
|
NM_005045.4(RELN):c.7911C>T (p.Arg2637=)
|
rs2117076458
|
|
NM_005045.4(RELN):c.7917C>T (p.Arg2639=)
|
rs1318247052
|
|
NM_005045.4(RELN):c.7968C>T (p.Asp2656=)
|
rs2117076324
|
|
NM_005045.4(RELN):c.7983A>G (p.Ser2661=)
|
rs2117076292
|
|
NM_005045.4(RELN):c.8011C>T (p.Leu2671=)
|
|
|
NM_005045.4(RELN):c.8025C>T (p.Ser2675=)
|
|
|
NM_005045.4(RELN):c.8031C>G (p.Ala2677=)
|
rs775819927
|
|
NM_005045.4(RELN):c.8031C>T (p.Ala2677=)
|
|
|
NM_005045.4(RELN):c.805+18G>A
|
|
|
NM_005045.4(RELN):c.805+8T>A
|
|
|
NM_005045.4(RELN):c.8053T>C (p.Ser2685Pro)
|
rs766349515
|
|
NM_005045.4(RELN):c.806-19T>C
|
|
|
NM_005045.4(RELN):c.806-4A>G
|
|
|
NM_005045.4(RELN):c.806-8A>C
|
rs1314193916
|
|
NM_005045.4(RELN):c.8067C>T (p.Ala2689=)
|
|
|
NM_005045.4(RELN):c.8073T>C (p.Pro2691=)
|
rs775986044
|
|
NM_005045.4(RELN):c.8077G>A (p.Gly2693Arg)
|
|
|
NM_005045.4(RELN):c.8094C>T (p.Asp2698=)
|
|
|
NM_005045.4(RELN):c.8119+11C>T
|
|
|
NM_005045.4(RELN):c.8119+16C>A
|
|
|
NM_005045.4(RELN):c.8119+19T>C
|
|
|
NM_005045.4(RELN):c.8119+7T>A
|
|
|
NM_005045.4(RELN):c.8119+8A>G
|
|
|
NM_005045.4(RELN):c.8119+8A>T
|
|
|
NM_005045.4(RELN):c.8119+9T>C
|
|
|
NM_005045.4(RELN):c.8120-11T>G
|
|
|
NM_005045.4(RELN):c.8120-15T>G
|
rs1829393118
|
|
NM_005045.4(RELN):c.8120-16_8120-13del
|
rs1248948471
|
|
NM_005045.4(RELN):c.8120-9del
|
rs774679180
|
|
NM_005045.4(RELN):c.8121G>A (p.Val2707=)
|
rs1345247825
|
|
NM_005045.4(RELN):c.8121G>C (p.Val2707=)
|
|
|
NM_005045.4(RELN):c.8154A>T (p.Thr2718=)
|
rs1554367205
|
|
NM_005045.4(RELN):c.8181T>C (p.Asp2727=)
|
|
|
NM_005045.4(RELN):c.8213G>A (p.Arg2738Gln)
|
rs141115137
|
|
NM_005045.4(RELN):c.8213G>T (p.Arg2738Leu)
|
|
|
NM_005045.4(RELN):c.8215G>C (p.Glu2739Gln)
|
|
|
NM_005045.4(RELN):c.8241G>A (p.Leu2747=)
|
rs1829385355
|
|
NM_005045.4(RELN):c.8247C>A (p.Pro2749=)
|
|
|
NM_005045.4(RELN):c.8268A>G (p.Gln2756=)
|
rs143469522
|
|
NM_005045.4(RELN):c.8271C>T (p.Phe2757=)
|
|
|
NM_005045.4(RELN):c.8274+12T>C
|
|
|
NM_005045.4(RELN):c.8274+16C>T
|
|
|
NM_005045.4(RELN):c.8274+8G>T
|
|
|
NM_005045.4(RELN):c.8275-16T>C
|
rs1028987409
|
|
NM_005045.4(RELN):c.8275-16T>G
|
|
|
NM_005045.4(RELN):c.8275-9_8275-6del
|
rs748736976
|
|
NM_005045.4(RELN):c.831T>C (p.Tyr277=)
|
rs398124192
|
|
NM_005045.4(RELN):c.8325T>C (p.His2775=)
|
|
|
NM_005045.4(RELN):c.8346C>T (p.Phe2782=)
|
|
|
NM_005045.4(RELN):c.8421A>G (p.Pro2807=)
|
|
|
NM_005045.4(RELN):c.8424T>A (p.Ser2808=)
|
rs776860509
|
|
NM_005045.4(RELN):c.8424T>C (p.Ser2808=)
|
|
|
NM_005045.4(RELN):c.843C>T (p.Ser281=)
|
rs1277811940
|
|
NM_005045.4(RELN):c.8445G>A (p.Gly2815=)
|
rs1156230944
|
|
NM_005045.4(RELN):c.8489+15A>G
|
|
|
NM_005045.4(RELN):c.8489+8G>A
|
rs967424047
|
|
NM_005045.4(RELN):c.8490-11A>G
|
|
|
NM_005045.4(RELN):c.8490-24_8490-20dup
|
|
|
NM_005045.4(RELN):c.8544T>C (p.Asp2848=)
|
rs1829003681
|
|
NM_005045.4(RELN):c.8577C>T (p.Asn2859=)
|
rs1162398803
|
|
NM_005045.4(RELN):c.8583G>A (p.Arg2861=)
|
|
|
NM_005045.4(RELN):c.8604G>C (p.Arg2868Ser)
|
|
|
NM_005045.4(RELN):c.8614A>G (p.Ile2872Val)
|
rs765151646
|
|
NM_005045.4(RELN):c.8616C>T (p.Ile2872=)
|
|
|
NM_005045.4(RELN):c.8640A>C (p.Pro2880=)
|
rs369307806
|
|
NM_005045.4(RELN):c.8664G>C (p.Leu2888=)
|
|
|
NM_005045.4(RELN):c.8667+17G>C
|
rs749919235
|
|
NM_005045.4(RELN):c.8668-13A>C
|
|
|
NM_005045.4(RELN):c.8668-16C>T
|
|
|
NM_005045.4(RELN):c.8668-9_8668-5del
|
rs756964380
|
|
NM_005045.4(RELN):c.8673C>T (p.Phe2891=)
|
rs200157006
|
|
NM_005045.4(RELN):c.8691C>T (p.Asp2897=)
|
rs763188823
|
|
NM_005045.4(RELN):c.8843+16del
|
rs2117025123
|
|
NM_005045.4(RELN):c.8844-11C>T
|
rs1015958070
|
|
NM_005045.4(RELN):c.8844-11del
|
|
|
NM_005045.4(RELN):c.8882A>C (p.Asn2961Thr)
|
|
|
NM_005045.4(RELN):c.892G>A (p.Glu298Lys)
|
rs563525929
|
|
NM_005045.4(RELN):c.8943C>T (p.Thr2981=)
|
|
|
NM_005045.4(RELN):c.8950+11G>A
|
|
|
NM_005045.4(RELN):c.8950+11G>C
|
|
|
NM_005045.4(RELN):c.8950+9C>T
|
rs1378125232
|
|
NM_005045.4(RELN):c.8951-11_8951-8dup
|
rs1554364085
|
|
NM_005045.4(RELN):c.8951-15T>C
|
|
|
NM_005045.4(RELN):c.8951-17T>C
|
rs2117021559
|
|
NM_005045.4(RELN):c.8951-4A>G
|
|
|
NM_005045.4(RELN):c.8973T>C (p.His2991=)
|
|
|
NM_005045.4(RELN):c.9009C>G (p.His3003Gln)
|
rs750882329
|
|
NM_005045.4(RELN):c.902+7T>A
|
|
|
NM_005045.4(RELN):c.902+7del
|
|
|
NM_005045.4(RELN):c.9027T>G (p.Pro3009=)
|
|
|
NM_005045.4(RELN):c.9032A>G (p.Asp3011Gly)
|
|
|
NM_005045.4(RELN):c.9081C>T (p.Ile3027=)
|
|
|
NM_005045.4(RELN):c.90C>T (p.Tyr30=)
|
|
|
NM_005045.4(RELN):c.9193+10A>G
|
|
|
NM_005045.4(RELN):c.9193+14C>T
|
|
|
NM_005045.4(RELN):c.9193+15_9193+17del
|
|
|
NM_005045.4(RELN):c.9193+16T>C
|
rs186738390
|
|
NM_005045.4(RELN):c.9194-17C>G
|
|
|
NM_005045.4(RELN):c.9194-18T>C
|
|
|
NM_005045.4(RELN):c.9194-20C>T
|
|
|
NM_005045.4(RELN):c.9194-43_9194-7del
|
rs767897798
|
|
NM_005045.4(RELN):c.9194-80CAAGAGAATAATATGCCATATTGCTTCCAATTTTCCT[3]
|
rs767897798
|
|
NM_005045.4(RELN):c.921C>T (p.Ser307=)
|
|
|
NM_005045.4(RELN):c.9222T>C (p.Ser3074=)
|
rs771439100
|
|
NM_005045.4(RELN):c.9276C>T (p.His3092=)
|
rs794727768
|
|
NM_005045.4(RELN):c.9291T>C (p.Asn3097=)
|
|
|
NM_005045.4(RELN):c.9318T>C (p.Ala3106=)
|
|
|
NM_005045.4(RELN):c.9327C>G (p.Ser3109=)
|
rs1193632741
|
|
NM_005045.4(RELN):c.9327C>T (p.Ser3109=)
|
rs1193632741
|
|
NM_005045.4(RELN):c.9363G>A (p.Gln3121=)
|
|
|
NM_005045.4(RELN):c.9369+11G>A
|
|
|
NM_005045.4(RELN):c.9369+16T>C
|
|
|
NM_005045.4(RELN):c.9369+18_9369+19insG
|
|
|
NM_005045.4(RELN):c.9370-13_9370-12del
|
rs1828690313
|
|
NM_005045.4(RELN):c.9370-17_9370-14del
|
rs769041611
|
|
NM_005045.4(RELN):c.9370-18T>A
|
rs755641286
|
|
NM_005045.4(RELN):c.9370-20A>T
|
|
|
NM_005045.4(RELN):c.9370-6T>C
|
rs199771713
|
|
NM_005045.4(RELN):c.9370-7G>C
|
rs1584226513
|
|
NM_005045.4(RELN):c.9384T>C (p.Cys3128=)
|
rs2117007355
|
|
NM_005045.4(RELN):c.9423G>T (p.Leu3141=)
|
rs1022912314
|
|
NM_005045.4(RELN):c.9438T>C (p.Asp3146=)
|
|
|
NM_005045.4(RELN):c.9439G>A (p.Ala3147Thr)
|
rs150485168
|
|
NM_005045.4(RELN):c.9443+13A>C
|
|
|
NM_005045.4(RELN):c.9444-11G>T
|
|
|
NM_005045.4(RELN):c.9444-17C>G
|
|
|
NM_005045.4(RELN):c.9447G>C (p.Ser3149=)
|
rs770503009
|
|
NM_005045.4(RELN):c.9447G>T (p.Ser3149=)
|
|
|
NM_005045.4(RELN):c.9466C>G (p.Gln3156Glu)
|
|
|
NM_005045.4(RELN):c.9468G>A (p.Gln3156=)
|
rs1340943020
|
|
NM_005045.4(RELN):c.9480T>C (p.Leu3160=)
|
rs2117002286
|
|
NM_005045.4(RELN):c.9480T>G (p.Leu3160=)
|
|
|
NM_005045.4(RELN):c.9486C>T (p.Ser3162=)
|
rs775810751
|
|
NM_005045.4(RELN):c.9492T>A (p.Ser3164=)
|
|
|
NM_005045.4(RELN):c.9507C>T (p.Cys3169=)
|
|
|
NM_005045.4(RELN):c.9510C>T (p.Ser3170=)
|
|
|
NM_005045.4(RELN):c.951G>A (p.Glu317=)
|
rs1834015310
|
|
NM_005045.4(RELN):c.9525T>C (p.His3175=)
|
rs1241219063
|
|
NM_005045.4(RELN):c.9528A>G (p.Glu3176=)
|
|
|
NM_005045.4(RELN):c.9531C>T (p.Ala3177=)
|
rs750621529
|
|
NM_005045.4(RELN):c.954C>G (p.Asp318Glu)
|
rs776804213
|
|
NM_005045.4(RELN):c.954C>T (p.Asp318=)
|
rs776804213
|
|
NM_005045.4(RELN):c.9605+16A>T
|
|
|
NM_005045.4(RELN):c.9605+9C>G
|
|
|
NM_005045.4(RELN):c.9606-10G>A
|
|
|
NM_005045.4(RELN):c.9606-10G>T
|
rs776436361
|
|
NM_005045.4(RELN):c.9606-14T>C
|
|
|
NM_005045.4(RELN):c.9606-15C>T
|
|
|
NM_005045.4(RELN):c.9606-17C>G
|
|
|
NM_005045.4(RELN):c.9606-6_9606-3dup
|
|
|
NM_005045.4(RELN):c.9627C>A (p.Ile3209=)
|
|
|
NM_005045.4(RELN):c.9628C>G (p.Gln3210Glu)
|
|
|
NM_005045.4(RELN):c.9678C>T (p.Tyr3226=)
|
|
|
NM_005045.4(RELN):c.96C>G (p.Arg32=)
|
rs2116860269
|
|
NM_005045.4(RELN):c.9726G>A (p.Thr3242=)
|
rs370000503
|
|
NM_005045.4(RELN):c.9726G>C (p.Thr3242=)
|
rs370000503
|
|
NM_005045.4(RELN):c.9730G>C (p.Gly3244Arg)
|
rs73714410
|
|
NM_005045.4(RELN):c.9744C>A (p.Ile3248=)
|
rs2116998809
|
|
NM_005045.4(RELN):c.9763+20A>G
|
|
|
NM_005045.4(RELN):c.9764-10T>C
|
|
|
NM_005045.4(RELN):c.9764-10del
|
rs777831069
|
|
NM_005045.4(RELN):c.9783C>T (p.Phe3261=)
|
|
|
NM_005045.4(RELN):c.9796C>T (p.Pro3266Ser)
|
rs544906913
|
|
NM_005045.4(RELN):c.9816T>C (p.Asn3272=)
|
|
|
NM_005045.4(RELN):c.9837C>G (p.Thr3279=)
|
rs202224350
|
|
NM_005045.4(RELN):c.9837C>T (p.Thr3279=)
|
rs202224350
|
|
NM_005045.4(RELN):c.9855C>T (p.Thr3285=)
|
|
|
NM_005045.4(RELN):c.9879T>C (p.Ser3293=)
|
|
|
NM_005045.4(RELN):c.9897C>A (p.Ala3299=)
|
rs773445172
|
|
NM_005045.4(RELN):c.9904G>A (p.Ala3302Thr)
|
|
|
NM_005045.4(RELN):c.9912A>G (p.Gly3304=)
|
|
|
NM_005045.4(RELN):c.9930T>C (p.Asn3310=)
|
rs1586472746
|
|
NM_005045.4(RELN):c.9938A>G (p.Gln3313Arg)
|
|
|
NM_005045.4(RELN):c.9951A>G (p.Ala3317=)
|
rs1586472713
|
|
NM_005045.4(RELN):c.9975T>G (p.Thr3325=)
|
rs1586472688
|
|
NM_005045.4(RELN):c.9983+15A>G
|
|
|
NM_005045.4(RELN):c.9983+16T>C
|
|
|
NM_005045.4(RELN):c.9984-15C>G
|
|
|
NM_005045.4(RELN):c.9990C>T (p.Ile3330=)
|
|
|
NM_005076.5(CNTN2):c.1001C>T (p.Ser334Leu)
|
|
|
NM_005076.5(CNTN2):c.102C>T (p.Thr34=)
|
|
|
NM_005076.5(CNTN2):c.1065G>A (p.Arg355=)
|
|
|
NM_005076.5(CNTN2):c.1083G>A (p.Leu361=)
|
|
|
NM_005076.5(CNTN2):c.1111-11C>G
|
rs765974056
|
|
NM_005076.5(CNTN2):c.1111-14G>A
|
|
|
NM_005076.5(CNTN2):c.1111-14del
|
|
|
NM_005076.5(CNTN2):c.1111-4A>G
|
rs1221890068
|
|
NM_005076.5(CNTN2):c.1111-5C>T
|
|
|
NM_005076.5(CNTN2):c.1111-6G>A
|
|
|
NM_005076.5(CNTN2):c.1111-6G>C
|
|
|
NM_005076.5(CNTN2):c.1111-7T>C
|
|
|
NM_005076.5(CNTN2):c.1137C>T (p.Asp379=)
|
rs1054922120
|
|
NM_005076.5(CNTN2):c.1170G>A (p.Ser390=)
|
|
|
NM_005076.5(CNTN2):c.1197T>C (p.Asn399=)
|
|
|
NM_005076.5(CNTN2):c.1203C>T (p.His401=)
|
|
|
NM_005076.5(CNTN2):c.1224C>T (p.Ala408=)
|
rs374199117
|
|
NM_005076.5(CNTN2):c.123C>T (p.Asp41=)
|
rs2151189002
|
|
NM_005076.5(CNTN2):c.1240+15G>A
|
|
|
NM_005076.5(CNTN2):c.1241-14C>T
|
|
|
NM_005076.5(CNTN2):c.1269C>T (p.Pro423=)
|
|
|
NM_005076.5(CNTN2):c.1299G>C (p.Gly433=)
|
|
|
NM_005076.5(CNTN2):c.1308C>A (p.Ile436=)
|
|
|
NM_005076.5(CNTN2):c.1353C>T (p.Leu451=)
|
|
|
NM_005076.5(CNTN2):c.1359C>T (p.Ser453=)
|
rs746391581
|
|
NM_005076.5(CNTN2):c.135T>C (p.Ser45=)
|
|
|
NM_005076.5(CNTN2):c.1377G>A (p.Leu459=)
|
|
|
NM_005076.5(CNTN2):c.1391+13C>A
|
|
|
NM_005076.5(CNTN2):c.1391+14C>A
|
rs2151194296
|
|
NM_005076.5(CNTN2):c.1391+18C>T
|
|
|
NM_005076.5(CNTN2):c.1391+20C>G
|
|
|
NM_005076.5(CNTN2):c.1392-12T>A
|
|
|
NM_005076.5(CNTN2):c.1392-14T>C
|
|
|
NM_005076.5(CNTN2):c.1392-20C>T
|
|
|
NM_005076.5(CNTN2):c.1392-5C>T
|
|
|
NM_005076.5(CNTN2):c.141A>C (p.Leu47=)
|
|
|
NM_005076.5(CNTN2):c.1458C>T (p.Tyr486=)
|
|
|
NM_005076.5(CNTN2):c.1461C>G (p.Thr487=)
|
|
|
NM_005076.5(CNTN2):c.1507C>T (p.Leu503=)
|
rs766723952
|
|
NM_005076.5(CNTN2):c.1519+14T>C
|
|
|
NM_005076.5(CNTN2):c.1519+15G>A
|
|
|
NM_005076.5(CNTN2):c.1519+18G>T
|
|
|
NM_005076.5(CNTN2):c.1519+7G>A
|
rs1346328506
|
|
NM_005076.5(CNTN2):c.1520-14G>T
|
rs756912706
|
|
NM_005076.5(CNTN2):c.1520-17C>T
|
rs1302100288
|
|
NM_005076.5(CNTN2):c.1542C>T (p.Ala514=)
|
rs1222050124
|
|
NM_005076.5(CNTN2):c.1545C>A (p.Pro515=)
|
|
|
NM_005076.5(CNTN2):c.1596C>T (p.Ala532=)
|
rs1003669995
|
|
NM_005076.5(CNTN2):c.1617C>T (p.Asp539=)
|
|
|
NM_005076.5(CNTN2):c.1629C>G (p.Thr543=)
|
|
|
NM_005076.5(CNTN2):c.1638G>A (p.Leu546=)
|
|
|
NM_005076.5(CNTN2):c.1647C>T (p.Phe549=)
|
|
|
NM_005076.5(CNTN2):c.1677C>T (p.His559=)
|
rs770974958
|
|
NM_005076.5(CNTN2):c.1680C>T (p.Tyr560=)
|
|
|
NM_005076.5(CNTN2):c.1695+20C>G
|
|
|
NM_005076.5(CNTN2):c.1695+8C>G
|
|
|
NM_005076.5(CNTN2):c.1696-10C>A
|
|
|
NM_005076.5(CNTN2):c.1696-15T>C
|
|
|
NM_005076.5(CNTN2):c.1696-9C>T
|
|
|
NM_005076.5(CNTN2):c.172T>C (p.Leu58=)
|
|
|
NM_005076.5(CNTN2):c.1746G>C (p.Gly582=)
|
|
|
NM_005076.5(CNTN2):c.1785C>T (p.Ser595=)
|
rs374726965
|
|
NM_005076.5(CNTN2):c.1786G>A (p.Ala596Thr)
|
rs556646437
|
|
NM_005076.5(CNTN2):c.1800C>A (p.Ala600=)
|
|
|
NM_005076.5(CNTN2):c.1816+13C>T
|
|
|
NM_005076.5(CNTN2):c.1816+15A>C
|
rs1654266364
|
|
NM_005076.5(CNTN2):c.1816+8G>A
|
|
|
NM_005076.5(CNTN2):c.1817-14A>G
|
|
|
NM_005076.5(CNTN2):c.1848G>A (p.Val616=)
|
|
|
NM_005076.5(CNTN2):c.1872C>G (p.Ile624Met)
|
rs202153875
|
|
NM_005076.5(CNTN2):c.1926C>T (p.Thr642=)
|
rs747563076
|
|
NM_005076.5(CNTN2):c.1962G>A (p.Lys654=)
|
|
|
NM_005076.5(CNTN2):c.1965G>A (p.Gln655=)
|
rs768447366
|
|
NM_005076.5(CNTN2):c.1975+10A>G
|
rs773175563
|
|
NM_005076.5(CNTN2):c.1975+13C>T
|
|
|
NM_005076.5(CNTN2):c.1975+15C>T
|
|
|
NM_005076.5(CNTN2):c.1975+7G>T
|
rs1654305122
|
|
NM_005076.5(CNTN2):c.1976-15C>T
|
rs2151196512
|
|
NM_005076.5(CNTN2):c.1989C>A (p.Ile663=)
|
|
|
NM_005076.5(CNTN2):c.1989C>T (p.Ile663=)
|
|
|
NM_005076.5(CNTN2):c.2025C>A (p.Leu675=)
|
rs1340029424
|
|
NM_005076.5(CNTN2):c.2052G>A (p.Arg684=)
|
|
|
NM_005076.5(CNTN2):c.2064C>T (p.Ser688=)
|
|
|
NM_005076.5(CNTN2):c.2079T>C (p.Thr693=)
|
rs2151196632
|
|
NM_005076.5(CNTN2):c.2125+10C>T
|
rs1301103369
|
|
NM_005076.5(CNTN2):c.2125+12G>A
|
|
|
NM_005076.5(CNTN2):c.2126-12G>T
|
|
|
NM_005076.5(CNTN2):c.2126-16C>A
|
rs202038605
|
|
NM_005076.5(CNTN2):c.2130C>T (p.Pro710=)
|
rs1009461344
|
|
NM_005076.5(CNTN2):c.2136G>A (p.Val712=)
|
|
|
NM_005076.5(CNTN2):c.215+11T>G
|
|
|
NM_005076.5(CNTN2):c.215+20T>G
|
|
|
NM_005076.5(CNTN2):c.216-18C>T
|
|
|
NM_005076.5(CNTN2):c.216-19C>T
|
|
|
NM_005076.5(CNTN2):c.2184C>T (p.Ile728=)
|
|
|
NM_005076.5(CNTN2):c.2196+7T>G
|
rs1654476200
|
|
NM_005076.5(CNTN2):c.2197-7C>T
|
|
|
NM_005076.5(CNTN2):c.2197-9G>C
|
|
|
NM_005076.5(CNTN2):c.222G>A (p.Lys74=)
|
|
|
NM_005076.5(CNTN2):c.2241G>A (p.Leu747=)
|
|
|
NM_005076.5(CNTN2):c.2304C>T (p.Ala768=)
|
|
|
NM_005076.5(CNTN2):c.2349C>T (p.Pro783=)
|
|
|
NM_005076.5(CNTN2):c.234C>T (p.Thr78=)
|
|
|
NM_005076.5(CNTN2):c.2394C>T (p.Pro798=)
|
|
|
NM_005076.5(CNTN2):c.2412C>T (p.Leu804=)
|
rs753589096
|
|
NM_005076.5(CNTN2):c.2431+18_2431+19insA
|
|
|
NM_005076.5(CNTN2):c.2432-19A>T
|
|
|
NM_005076.5(CNTN2):c.2445C>G (p.Ala815=)
|
|
|
NM_005076.5(CNTN2):c.2448T>C (p.Pro816=)
|
|
|
NM_005076.5(CNTN2):c.2496C>T (p.Thr832=)
|
|
|
NM_005076.5(CNTN2):c.2517C>T (p.Asp839=)
|
rs1654538290
|
|
NM_005076.5(CNTN2):c.2544+14T>G
|
|
|
NM_005076.5(CNTN2):c.2544+20T>G
|
|
|
NM_005076.5(CNTN2):c.2544+9C>T
|
|
|
NM_005076.5(CNTN2):c.2545-10C>T
|
|
|
NM_005076.5(CNTN2):c.2545-11G>A
|
|
|
NM_005076.5(CNTN2):c.2545-16C>T
|
rs2151199908
|
|
NM_005076.5(CNTN2):c.2545-20G>C
|
rs749089664
|
|
NM_005076.5(CNTN2):c.2548C>T (p.Arg850Cys)
|
|
|
NM_005076.5(CNTN2):c.2550C>G (p.Arg850=)
|
|
|
NM_005076.5(CNTN2):c.2577A>G (p.Ala859=)
|
|
|
NM_005076.5(CNTN2):c.2589A>G (p.Arg863=)
|
rs1452001260
|
|
NM_005076.5(CNTN2):c.2673C>T (p.Tyr891=)
|
|
|
NM_005076.5(CNTN2):c.2676C>T (p.Asn892=)
|
|
|
NM_005076.5(CNTN2):c.2683G>A (p.Gly895Ser)
|
|
|
NM_005076.5(CNTN2):c.2715C>T (p.Ala905=)
|
|
|
NM_005076.5(CNTN2):c.2718G>A (p.Thr906=)
|
|
|
NM_005076.5(CNTN2):c.2718G>T (p.Thr906=)
|
|
|
NM_005076.5(CNTN2):c.2721C>T (p.Thr907=)
|
|
|
NM_005076.5(CNTN2):c.2732-12C>T
|
|
|
NM_005076.5(CNTN2):c.273G>C (p.Val91=)
|
|
|
NM_005076.5(CNTN2):c.273G>T (p.Val91=)
|
|
|
NM_005076.5(CNTN2):c.2778T>C (p.Ser926=)
|
|
|
NM_005076.5(CNTN2):c.2784T>C (p.Leu928=)
|
rs1354778874
|
|
NM_005076.5(CNTN2):c.2811T>C (p.Pro937=)
|
|
|
NM_005076.5(CNTN2):c.2835C>A (p.Thr945=)
|
|
|
NM_005076.5(CNTN2):c.283C>T (p.Leu95=)
|
rs2151189280
|
|
NM_005076.5(CNTN2):c.2892C>T (p.Thr964=)
|
|
|
NM_005076.5(CNTN2):c.2967C>T (p.Pro989=)
|
|
|
NM_005076.5(CNTN2):c.2979G>A (p.Gly993=)
|
|
|
NM_005076.5(CNTN2):c.2988A>G (p.Ala996=)
|
|
|
NM_005076.5(CNTN2):c.3000C>A (p.Ile1000=)
|
rs947096199
|
|
NM_005076.5(CNTN2):c.3000C>T (p.Ile1000=)
|
|
|
NM_005076.5(CNTN2):c.3013+14C>T
|
rs2151200888
|
|
NM_005076.5(CNTN2):c.3013+15C>T
|
|
|
NM_005076.5(CNTN2):c.3013+17A>G
|
|
|
NM_005076.5(CNTN2):c.3013+19C>G
|
|
|
NM_005076.5(CNTN2):c.3014-13G>C
|
|
|
NM_005076.5(CNTN2):c.3014-17G>A
|
|
|
NM_005076.5(CNTN2):c.3042A>T (p.Ala1014=)
|
|
|
NM_005076.5(CNTN2):c.306G>A (p.Lys102=)
|
|
|
NM_005076.5(CNTN2):c.3072C>T (p.Val1024=)
|
rs2151201250
|
|
NM_005076.5(CNTN2):c.3081C>T (p.His1027=)
|
|
|
NM_005076.5(CNTN2):c.3087G>C (p.Val1029=)
|
rs747629348
|
|
NM_005076.5(CNTN2):c.3099C>T (p.Ile1033=)
|
rs368955126
|
|
NM_005076.5(CNTN2):c.3108C>T (p.Gly1036=)
|
|
|
NM_005076.5(CNTN2):c.318C>G (p.Ala106=)
|
rs372422500
|
|
NM_005076.5(CNTN2):c.342C>T (p.Ser114=)
|
|
|
NM_005076.5(CNTN2):c.369G>A (p.Arg123=)
|
|
|
NM_005076.5(CNTN2):c.387C>T (p.Phe129=)
|
|
|
NM_005076.5(CNTN2):c.391+18C>T
|
|
|
NM_005076.5(CNTN2):c.391+7C>G
|
|
|
NM_005076.5(CNTN2):c.391+8C>G
|
|
|
NM_005076.5(CNTN2):c.392-19C>T
|
rs2151189586
|
|
NM_005076.5(CNTN2):c.394C>T (p.Leu132=)
|
rs2151189605
|
|
NM_005076.5(CNTN2):c.39G>A (p.Leu13=)
|
rs1375494353
|
|
NM_005076.5(CNTN2):c.487+12C>G
|
|
|
NM_005076.5(CNTN2):c.487+20C>T
|
|
|
NM_005076.5(CNTN2):c.488-17A>C
|
rs747845333
|
|
NM_005076.5(CNTN2):c.488-4C>T
|
|
|
NM_005076.5(CNTN2):c.51G>A (p.Val17=)
|
rs2151185969
|
|
NM_005076.5(CNTN2):c.528C>T (p.Phe176=)
|
rs952476278
|
|
NM_005076.5(CNTN2):c.534G>C (p.Pro178=)
|
rs151020999
|
|
NM_005076.5(CNTN2):c.540C>T (p.Asp180=)
|
|
|
NM_005076.5(CNTN2):c.543G>C (p.Gly181=)
|
rs145237574
|
|
NM_005076.5(CNTN2):c.555G>C (p.Val185=)
|
rs2151190097
|
|
NM_005076.5(CNTN2):c.57T>C (p.Leu19=)
|
|
|
NM_005076.5(CNTN2):c.591C>A (p.Thr197=)
|
|
|
NM_005076.5(CNTN2):c.615C>T (p.Tyr205=)
|
|
|
NM_005076.5(CNTN2):c.618C>G (p.Ser206=)
|
rs1653833334
|
|
NM_005076.5(CNTN2):c.636C>T (p.His212=)
|
|
|
NM_005076.5(CNTN2):c.690T>C (p.Ala230=)
|
rs1182147073
|
|
NM_005076.5(CNTN2):c.697+11G>A
|
|
|
NM_005076.5(CNTN2):c.697+18G>A
|
rs872379
|
|
NM_005076.5(CNTN2):c.698-13C>A
|
|
|
NM_005076.5(CNTN2):c.698-14C>T
|
|
|
NM_005076.5(CNTN2):c.70+8G>A
|
|
|
NM_005076.5(CNTN2):c.71-19G>T
|
rs762328579
|
|
NM_005076.5(CNTN2):c.71-6C>A
|
|
|
NM_005076.5(CNTN2):c.71-7C>T
|
rs2151188960
|
|
NM_005076.5(CNTN2):c.744G>A (p.Glu248=)
|
|
|
NM_005076.5(CNTN2):c.756G>A (p.Leu252=)
|
|
|
NM_005076.5(CNTN2):c.762G>C (p.Gly254=)
|
rs1653864841
|
|
NM_005076.5(CNTN2):c.777G>A (p.Leu259=)
|
|
|
NM_005076.5(CNTN2):c.792T>C (p.Phe264=)
|
|
|
NM_005076.5(CNTN2):c.797+14G>A
|
|
|
NM_005076.5(CNTN2):c.797+15G>A
|
|
|
NM_005076.5(CNTN2):c.797+18G>A
|
|
|
NM_005076.5(CNTN2):c.798-6T>C
|
|
|
NM_005076.5(CNTN2):c.816G>A (p.Lys272=)
|
|
|
NM_005076.5(CNTN2):c.855C>A (p.Thr285=)
|
|
|
NM_005076.5(CNTN2):c.900T>C (p.Asp300=)
|
|
|
NM_005076.5(CNTN2):c.948C>A (p.Thr316=)
|
rs542983417
|
|
NM_005076.5(CNTN2):c.948C>T (p.Thr316=)
|
|
|
NM_005076.5(CNTN2):c.973+13G>C
|
rs2151192001
|
|
NM_005076.5(CNTN2):c.974-13C>T
|
|
|
NM_005076.5(CNTN2):c.99C>T (p.Thr33=)
|
|
|
NM_005097.4(LGI1):c.1011A>C (p.Thr337=)
|
|
|
NM_005097.4(LGI1):c.1026C>G (p.Asn342Lys)
|
rs1554907730
|
|
NM_005097.4(LGI1):c.1089C>T (p.Asn363=)
|
|
|
NM_005097.4(LGI1):c.1125G>A (p.Ala375=)
|
|
|
NM_005097.4(LGI1):c.1125G>C (p.Ala375=)
|
rs886047487
|
|
NM_005097.4(LGI1):c.1185A>G (p.Arg395=)
|
|
|
NM_005097.4(LGI1):c.1188G>A (p.Thr396=)
|
|
|
NM_005097.4(LGI1):c.1188G>T (p.Thr396=)
|
rs545650972
|
|
NM_005097.4(LGI1):c.1206T>C (p.Ser402=)
|
|
|
NM_005097.4(LGI1):c.1242C>T (p.Asn414=)
|
|
|
NM_005097.4(LGI1):c.1245A>G (p.Lys415=)
|
|
|
NM_005097.4(LGI1):c.126C>T (p.Cys42=)
|
|
|
NM_005097.4(LGI1):c.1296G>A (p.Val432=)
|
|
|
NM_005097.4(LGI1):c.1302A>G (p.Ala434=)
|
|
|
NM_005097.4(LGI1):c.1347A>G (p.Thr449=)
|
|
|
NM_005097.4(LGI1):c.1365C>T (p.Ser455=)
|
rs762002155
|
|
NM_005097.4(LGI1):c.1419G>A (p.Ser473=)
|
rs1040194336
|
|
NM_005097.4(LGI1):c.1419G>T (p.Ser473=)
|
|
|
NM_005097.4(LGI1):c.1428C>A (p.Ser476=)
|
|
|
NM_005097.4(LGI1):c.1434G>A (p.Val478=)
|
|
|
NM_005097.4(LGI1):c.1434G>T (p.Val478=)
|
rs993421984
|
|
NM_005097.4(LGI1):c.1467T>C (p.Tyr489=)
|
|
|
NM_005097.4(LGI1):c.1503G>A (p.Val501=)
|
rs1431473977
|
|
NM_005097.4(LGI1):c.1515T>C (p.Asp505=)
|
|
|
NM_005097.4(LGI1):c.153T>C (p.Asp51=)
|
|
|
NM_005097.4(LGI1):c.1560G>A (p.Gln520=)
|
rs2134027092
|
|
NM_005097.4(LGI1):c.1566A>C (p.Pro522=)
|
rs771120986
|
|
NM_005097.4(LGI1):c.1581T>C (p.His527=)
|
|
|
NM_005097.4(LGI1):c.1599T>C (p.Arg533=)
|
rs2134027164
|
|
NM_005097.4(LGI1):c.1614T>C (p.Ala538=)
|
rs2134027174
|
|
NM_005097.4(LGI1):c.1650T>C (p.His550=)
|
rs563455611
|
|
NM_005097.4(LGI1):c.198T>A (p.Pro66=)
|
rs2133975621
|
|
NM_005097.4(LGI1):c.216-12G>A
|
|
|
NM_005097.4(LGI1):c.219C>G (p.Ser73=)
|
|
|
NM_005097.4(LGI1):c.246C>A (p.Ile82=)
|
|
|
NM_005097.4(LGI1):c.277C>T (p.Leu93=)
|
rs1320446814
|
|
NM_005097.4(LGI1):c.288-14C>A
|
|
|
NM_005097.4(LGI1):c.288-17G>C
|
|
|
NM_005097.4(LGI1):c.297A>G (p.Thr99=)
|
rs777027658
|
|
NM_005097.4(LGI1):c.309T>C (p.Phe103=)
|
rs878934761
|
|
NM_005097.4(LGI1):c.342T>G (p.Leu114=)
|
|
|
NM_005097.4(LGI1):c.359+14del
|
|
|
NM_005097.4(LGI1):c.359+15T>A
|
|
|
NM_005097.4(LGI1):c.360-13T>C
|
rs2134001315
|
|
NM_005097.4(LGI1):c.414A>G (p.Leu138=)
|
|
|
NM_005097.4(LGI1):c.431+9G>T
|
|
|
NM_005097.4(LGI1):c.432-11_432-10insCT
|
|
|
NM_005097.4(LGI1):c.432-15_432-14insAT
|
|
|
NM_005097.4(LGI1):c.432-5_432-4insTA
|
rs1554906719
|
|
NM_005097.4(LGI1):c.432-5_432-4insTC
|
rs1554906719
|
|
NM_005097.4(LGI1):c.432-5_432-4insTTC
|
rs1554906719
|
|
NM_005097.4(LGI1):c.432-6_432-5insAT
|
rs761154452
|
|
NM_005097.4(LGI1):c.438T>G (p.Leu146=)
|
|
|
NM_005097.4(LGI1):c.483C>A (p.Gly161=)
|
rs1014154783
|
|
NM_005097.4(LGI1):c.484C>T (p.Leu162=)
|
|
|
NM_005097.4(LGI1):c.498A>C (p.Thr166=)
|
rs1057523247
|
|
NM_005097.4(LGI1):c.503+15G>T
|
|
|
NM_005097.4(LGI1):c.504-9G>A
|
rs2059947219
|
|
NM_005097.4(LGI1):c.510G>A (p.Leu170=)
|
|
|
NM_005097.4(LGI1):c.525T>C (p.Phe175=)
|
|
|
NM_005097.4(LGI1):c.612A>G (p.Pro204=)
|
rs2134020932
|
|
NM_005097.4(LGI1):c.618C>T (p.Tyr206=)
|
rs1554907108
|
|
NM_005097.4(LGI1):c.663C>T (p.Cys221=)
|
|
|
NM_005097.4(LGI1):c.666C>T (p.Ile222=)
|
|
|
NM_005097.4(LGI1):c.673+19T>C
|
|
|
NM_005097.4(LGI1):c.674-18T>G
|
|
|
NM_005097.4(LGI1):c.674-5dup
|
rs1467827240
|
|
NM_005097.4(LGI1):c.687T>G (p.Ser229=)
|
|
|
NM_005097.4(LGI1):c.705A>G (p.Gln235=)
|
rs2059951017
|
|
NM_005097.4(LGI1):c.741T>C (p.Asp247=)
|
|
|
NM_005097.4(LGI1):c.747T>C (p.Tyr249=)
|
|
|
NM_005097.4(LGI1):c.75C>G (p.Leu25=)
|
|
|
NM_005097.4(LGI1):c.771T>C (p.Thr257=)
|
|
|
NM_005097.4(LGI1):c.838+18A>C
|
rs1435969066
|
|
NM_005097.4(LGI1):c.839-17C>G
|
|
|
NM_005097.4(LGI1):c.84G>T (p.Ala28=)
|
rs2133975468
|
|
NM_005097.4(LGI1):c.882G>A (p.Gln294=)
|
rs1554907709
|
|
NM_005097.4(LGI1):c.924C>T (p.Ile308=)
|
rs2134026230
|
|
NM_005097.4(LGI1):c.942T>C (p.Phe314=)
|
rs2134026268
|
|
NM_005097.4(LGI1):c.990A>G (p.Arg330=)
|
rs2134026312
|
|
NM_005506.4(SCARB2):c.1005C>T (p.Ile335=)
|
|
|
NM_005506.4(SCARB2):c.1014T>G (p.Ser338=)
|
rs1732095676
|
|
NM_005506.4(SCARB2):c.1026T>C (p.Phe342=)
|
|
|
NM_005506.4(SCARB2):c.1056C>A (p.Ala352=)
|
|
|
NM_005506.4(SCARB2):c.1086C>T (p.Asp362=)
|
rs1238674003
|
|
NM_005506.4(SCARB2):c.1107T>A (p.Ile369=)
|
rs2109937710
|
|
NM_005506.4(SCARB2):c.1113+16C>T
|
|
|
NM_005506.4(SCARB2):c.1114-15T>C
|
|
|
NM_005506.4(SCARB2):c.1114-18C>T
|
|
|
NM_005506.4(SCARB2):c.1114-19T>G
|
|
|
NM_005506.4(SCARB2):c.1119T>G (p.Thr373=)
|
|
|
NM_005506.4(SCARB2):c.1161T>C (p.Ile387=)
|
|
|
NM_005506.4(SCARB2):c.1164T>C (p.Tyr388=)
|
rs777550966
|
|
NM_005506.4(SCARB2):c.1179T>C (p.Asp393=)
|
rs2109936359
|
|
NM_005506.4(SCARB2):c.118-10T>G
|
rs1188258340
|
|
NM_005506.4(SCARB2):c.118-7T>C
|
rs190362739
|
|
NM_005506.4(SCARB2):c.1182C>T (p.Asp394=)
|
|
|
NM_005506.4(SCARB2):c.1187+10G>C
|
|
|
NM_005506.4(SCARB2):c.1187+13T>C
|
|
|
NM_005506.4(SCARB2):c.1187+20A>G
|
|
|
NM_005506.4(SCARB2):c.1188-11del
|
rs796052945
|
|
NM_005506.4(SCARB2):c.1188-15C>T
|
rs1480025542
|
|
NM_005506.4(SCARB2):c.1188-19T>G
|
|
|
NM_005506.4(SCARB2):c.1224G>A (p.Val408=)
|
rs1803391
|
|
NM_005506.4(SCARB2):c.1233C>G (p.Leu411=)
|
|
|
NM_005506.4(SCARB2):c.1239+12G>A
|
|
|
NM_005506.4(SCARB2):c.1239+14_1239+17dup
|
|
|
NM_005506.4(SCARB2):c.1239+15G>A
|
|
|
NM_005506.4(SCARB2):c.1240-15T>G
|
rs2109931990
|
|
NM_005506.4(SCARB2):c.1240-4C>T
|
|
|
NM_005506.4(SCARB2):c.1240-6C>G
|
|
|
NM_005506.4(SCARB2):c.1242T>C (p.Ser414=)
|
|
|
NM_005506.4(SCARB2):c.1245T>G (p.Val415=)
|
rs1262722686
|
|
NM_005506.4(SCARB2):c.1275G>A (p.Leu425=)
|
|
|
NM_005506.4(SCARB2):c.127T>C (p.Leu43=)
|
|
|
NM_005506.4(SCARB2):c.12C>T (p.Cys4=)
|
|
|
NM_005506.4(SCARB2):c.1305C>T (p.Ile435=)
|
|
|
NM_005506.4(SCARB2):c.1317C>G (p.Pro439=)
|
rs1731937017
|
|
NM_005506.4(SCARB2):c.1371A>C (p.Ala457=)
|
|
|
NM_005506.4(SCARB2):c.1386A>T (p.Gly462=)
|
rs1315496558
|
|
NM_005506.4(SCARB2):c.1398+10_1398+22del
|
rs778683141
|
|
NM_005506.4(SCARB2):c.1398+8C>A
|
rs755919906
|
|
NM_005506.4(SCARB2):c.1398+8C>T
|
rs755919906
|
|
NM_005506.4(SCARB2):c.1399-13T>C
|
|
|
NM_005506.4(SCARB2):c.1399-15T>A
|
|
|
NM_005506.4(SCARB2):c.1399-16C>G
|
|
|
NM_005506.4(SCARB2):c.141T>C (p.Thr47=)
|
rs2109960926
|
|
NM_005506.4(SCARB2):c.147A>G (p.Ala49=)
|
rs764449103
|
|
NM_005506.4(SCARB2):c.201C>T (p.Phe67=)
|
rs749098073
|
|
NM_005506.4(SCARB2):c.204T>C (p.Asn68=)
|
|
|
NM_005506.4(SCARB2):c.21C>T (p.Tyr7=)
|
rs1259404552
|
|
NM_005506.4(SCARB2):c.228C>G (p.Leu76=)
|
rs35069772
|
|
NM_005506.4(SCARB2):c.234G>C (p.Gly78=)
|
|
|
NM_005506.4(SCARB2):c.249G>A (p.Val83=)
|
|
|
NM_005506.4(SCARB2):c.275+12C>A
|
|
|
NM_005506.4(SCARB2):c.276-10T>G
|
|
|
NM_005506.4(SCARB2):c.276-7_276-5del
|
|
|
NM_005506.4(SCARB2):c.303A>G (p.Gln101=)
|
rs1242165140
|
|
NM_005506.4(SCARB2):c.315T>C (p.Asn105=)
|
rs2109948728
|
|
NM_005506.4(SCARB2):c.345G>A (p.Lys115=)
|
|
|
NM_005506.4(SCARB2):c.372T>G (p.Ser124=)
|
rs2109948665
|
|
NM_005506.4(SCARB2):c.390T>C (p.Ile130=)
|
|
|
NM_005506.4(SCARB2):c.39C>A (p.Ser13=)
|
rs2109974322
|
|
NM_005506.4(SCARB2):c.405A>G (p.Thr135=)
|
|
|
NM_005506.4(SCARB2):c.424-18T>G
|
|
|
NM_005506.4(SCARB2):c.444G>A (p.Gln148=)
|
|
|
NM_005506.4(SCARB2):c.459G>A (p.Arg153=)
|
rs2109947357
|
|
NM_005506.4(SCARB2):c.495G>A (p.Gln165=)
|
rs748957598
|
|
NM_005506.4(SCARB2):c.526T>C (p.Leu176=)
|
rs2109947255
|
|
NM_005506.4(SCARB2):c.549A>G (p.Glu183=)
|
rs2109947229
|
|
NM_005506.4(SCARB2):c.57C>T (p.Thr19=)
|
|
|
NM_005506.4(SCARB2):c.585C>A (p.Ile195=)
|
|
|
NM_005506.4(SCARB2):c.594T>C (p.Tyr198=)
|
|
|
NM_005506.4(SCARB2):c.606C>T (p.Phe202=)
|
rs963757755
|
|
NM_005506.4(SCARB2):c.612+15C>G
|
rs2109947094
|
|
NM_005506.4(SCARB2):c.612+8G>A
|
|
|
NM_005506.4(SCARB2):c.612+9A>G
|
rs1255966631
|
|
NM_005506.4(SCARB2):c.613-16A>C
|
|
|
NM_005506.4(SCARB2):c.613-7T>C
|
|
|
NM_005506.4(SCARB2):c.678A>G (p.Thr226=)
|
rs987942921
|
|
NM_005506.4(SCARB2):c.684T>C (p.Ile228=)
|
rs2109944274
|
|
NM_005506.4(SCARB2):c.705-16T>G
|
|
|
NM_005506.4(SCARB2):c.705-19T>C
|
|
|
NM_005506.4(SCARB2):c.72G>T (p.Leu24=)
|
rs2109974267
|
|
NM_005506.4(SCARB2):c.78C>A (p.Ala26=)
|
|
|
NM_005506.4(SCARB2):c.78C>G (p.Ala26=)
|
rs756157659
|
|
NM_005506.4(SCARB2):c.810A>T (p.Pro270=)
|
|
|
NM_005506.4(SCARB2):c.81G>C (p.Arg27=)
|
rs1481115543
|
|
NM_005506.4(SCARB2):c.825-13T>C
|
rs2109942083
|
|
NM_005506.4(SCARB2):c.825-17T>C
|
rs2109942090
|
|
NM_005506.4(SCARB2):c.84C>T (p.Val28=)
|
rs781459404
|
|
NM_005506.4(SCARB2):c.858T>C (p.Ser286=)
|
|
|
NM_005506.4(SCARB2):c.879T>C (p.Phe293=)
|
rs2109941982
|
|
NM_005506.4(SCARB2):c.927C>T (p.Ala309=)
|
rs775395230
|
|
NM_005506.4(SCARB2):c.994+19G>T
|
rs2109941762
|
|
NM_005506.4(SCARB2):c.9A>T (p.Arg3=)
|
rs148558907
|
|
NM_005670.4(EPM2A):c.102G>A (p.Pro34=)
|
rs1014133463
|
|
NM_005670.4(EPM2A):c.105C>G (p.Arg35=)
|
rs1583156996
|
|
NM_005670.4(EPM2A):c.108T>G (p.Gly36=)
|
rs1583156988
|
|
NM_005670.4(EPM2A):c.111C>T (p.Ala37=)
|
rs1425061464
|
|
NM_005670.4(EPM2A):c.117C>T (p.Arg39=)
|
|
|
NM_005670.4(EPM2A):c.118C>T (p.Leu40=)
|
rs1583156932
|
|
NM_005670.4(EPM2A):c.126G>T (p.Pro42=)
|
|
|
NM_005670.4(EPM2A):c.159C>A (p.Ala53=)
|
|
|
NM_005670.4(EPM2A):c.159C>T (p.Ala53=)
|
|
|
NM_005670.4(EPM2A):c.159_160delinsGT (p.Ala53_Leu54=)
|
rs2128649621
|
|
NM_005670.4(EPM2A):c.162G>A (p.Leu54=)
|
rs1223558074
|
|
NM_005670.4(EPM2A):c.168G>A (p.Glu56=)
|
|
|
NM_005670.4(EPM2A):c.171G>A (p.Pro57=)
|
rs531330673
|
|
NM_005670.4(EPM2A):c.171G>C (p.Pro57=)
|
|
|
NM_005670.4(EPM2A):c.177G>A (p.Leu59=)
|
|
|
NM_005670.4(EPM2A):c.201G>A (p.Ala67=)
|
rs1583156346
|
|
NM_005670.4(EPM2A):c.201G>T (p.Ala67=)
|
|
|
NM_005670.4(EPM2A):c.204C>A (p.Ala68=)
|
rs1200399183
|
|
NM_005670.4(EPM2A):c.234G>A (p.Pro78=)
|
rs2128649479
|
|
NM_005670.4(EPM2A):c.243G>C (p.Val81=)
|
|
|
NM_005670.4(EPM2A):c.246C>T (p.Asp82=)
|
rs1776792686
|
|
NM_005670.4(EPM2A):c.258C>T (p.Tyr86=)
|
|
|
NM_005670.4(EPM2A):c.267G>A (p.Leu89=)
|
|
|
NM_005670.4(EPM2A):c.270G>A (p.Lys90=)
|
|
|
NM_005670.4(EPM2A):c.276G>A (p.Glu92=)
|
rs766208204
|
|
NM_005670.4(EPM2A):c.291C>T (p.Leu97=)
|
|
|
NM_005670.4(EPM2A):c.301+11C>G
|
rs2128649268
|
|
NM_005670.4(EPM2A):c.301+14A>G
|
|
|
NM_005670.4(EPM2A):c.301+16del
|
rs2128649260
|
|
NM_005670.4(EPM2A):c.301+20G>A
|
|
|
NM_005670.4(EPM2A):c.302-17A>G
|
rs1286332017
|
|
NM_005670.4(EPM2A):c.302-20A>T
|
rs779211684
|
|
NM_005670.4(EPM2A):c.302-4C>T
|
rs1780908908
|
|
NM_005670.4(EPM2A):c.302-7G>A
|
rs1780909090
|
|
NM_005670.4(EPM2A):c.30A>G (p.Pro10=)
|
|
|
NM_005670.4(EPM2A):c.333T>C (p.Thr111=)
|
rs1780905564
|
|
NM_005670.4(EPM2A):c.360T>C (p.Gly120=)
|
rs2128614372
|
|
NM_005670.4(EPM2A):c.39G>T (p.Val13=)
|
|
|
NM_005670.4(EPM2A):c.411T>C (p.Asn137=)
|
|
|
NM_005670.4(EPM2A):c.42C>G (p.Ala14=)
|
rs2128650003
|
|
NM_005670.4(EPM2A):c.45C>A (p.Gly15=)
|
rs2128649993
|
|
NM_005670.4(EPM2A):c.476+19T>G
|
|
|
NM_005670.4(EPM2A):c.477-19C>T
|
|
|
NM_005670.4(EPM2A):c.48C>A (p.Ala16=)
|
rs1776820090
|
|
NM_005670.4(EPM2A):c.501T>C (p.Gly167=)
|
|
|
NM_005670.4(EPM2A):c.513T>C (p.Arg171=)
|
|
|
NM_005670.4(EPM2A):c.525T>C (p.His175=)
|
rs2128562729
|
|
NM_005670.4(EPM2A):c.546T>C (p.His182=)
|
rs1776583674
|
|
NM_005670.4(EPM2A):c.558T>C (p.Ile186=)
|
|
|
NM_005670.4(EPM2A):c.564T>G (p.Ala188=)
|
rs1342189516
|
|
NM_005670.4(EPM2A):c.58C>T (p.Leu20=)
|
rs2128649954
|
|
NM_005670.4(EPM2A):c.603T>C (p.Asn201=)
|
rs748995485
|
|
NM_005670.4(EPM2A):c.61C>T (p.Leu21=)
|
rs2128649940
|
|
NM_005670.4(EPM2A):c.639T>C (p.Thr213=)
|
|
|
NM_005670.4(EPM2A):c.69G>A (p.Val23=)
|
|
|
NM_005670.4(EPM2A):c.714C>G (p.Thr238=)
|
rs762653955
|
|
NM_005670.4(EPM2A):c.719-15C>T
|
|
|
NM_005670.4(EPM2A):c.759T>C (p.His253=)
|
rs1775923559
|
|
NM_005670.4(EPM2A):c.777A>G (p.Gly259=)
|
|
|
NM_005670.4(EPM2A):c.783C>T (p.Ile261=)
|
|
|
NM_005670.4(EPM2A):c.789C>T (p.Tyr263=)
|
|
|
NM_005670.4(EPM2A):c.792G>A (p.Val264=)
|
|
|
NM_005670.4(EPM2A):c.81C>G (p.Pro27=)
|
|
|
NM_005670.4(EPM2A):c.81C>T (p.Pro27=)
|
|
|
NM_005670.4(EPM2A):c.876G>T (p.Val292=)
|
rs774234576
|
|
NM_005670.4(EPM2A):c.894C>T (p.Ala298=)
|
rs1775904922
|
|
NM_005670.4(EPM2A):c.903G>A (p.Pro301=)
|
rs141361861
|
|
NM_005670.4(EPM2A):c.942A>G (p.Gln314=)
|
|
|
NM_005670.4(EPM2A):c.975T>C (p.Arg325=)
|
rs370469632
|
|
NM_005670.4(EPM2A):c.9C>T (p.Phe3=)
|
rs2128650111
|
|
NM_015973.5(GAL):c.106C>T (p.Leu36=)
|
rs528520052
|
|
NM_015973.5(GAL):c.177C>G (p.Gly59=)
|
rs533111349
|
|
NM_015973.5(GAL):c.42C>T (p.Leu14=)
|
rs1457970164
|
|
NM_015973.5(GAL):c.81+8C>T
|
rs1945837611
|
|
NM_015973.5(GAL):c.9A>C (p.Arg3=)
|
rs539085763
|
|
NM_018100.4(EFHC1):c.1138-4C>G
|
rs777292013
|
|
NM_018100.4(EFHC1):c.1138-6C>T
|
rs932580766
|
|
NM_018100.4(EFHC1):c.1293A>C (p.Pro431=)
|
rs1554261597
|
|
NM_018100.4(EFHC1):c.1527C>T (p.Asp509=)
|
rs368238981
|
|
NM_018100.4(EFHC1):c.1560T>C (p.Ala520=)
|
rs1199507059
|
|
NM_018100.4(EFHC1):c.1563C>G (p.Ala521=)
|
rs2114024468
|
|
NM_018100.4(EFHC1):c.1622C>G (p.Pro541Arg)
|
rs763151746
|
|
NM_018100.4(EFHC1):c.1626T>C (p.Ala542=)
|
rs2114024594
|
|
NM_018100.4(EFHC1):c.1746A>G (p.Ala582=)
|
rs1396508732
|
|
NM_018100.4(EFHC1):c.1758T>C (p.Tyr586=)
|
rs1765869162
|
|
NM_018100.4(EFHC1):c.1767A>G (p.Glu589=)
|
rs1562466034
|
|
NM_018100.4(EFHC1):c.1827A>G (p.Pro609=)
|
rs2114037054
|
|
NM_018100.4(EFHC1):c.1841_1851+13del
|
rs775583843
|
|
NM_018100.4(EFHC1):c.1851+8T>A
|
rs1765873500
|
|
NM_018100.4(EFHC1):c.1866C>T (p.Cys622=)
|
rs1554262324
|
|
NM_018100.4(EFHC1):c.336G>A (p.Glu112=)
|
rs1764580689
|
|
NM_018100.4(EFHC1):c.378A>G (p.Leu126=)
|
rs2113979351
|
|
NM_018100.4(EFHC1):c.504A>G (p.Leu168=)
|
rs1405675667
|
|
NM_018100.4(EFHC1):c.528T>A (p.Ile176=)
|
rs2113979621
|
|
NM_018100.4(EFHC1):c.672C>A (p.Val224=)
|
|
|
NM_018100.4(EFHC1):c.678A>T (p.Pro226=)
|
rs1060504898
|
|
NM_018100.4(EFHC1):c.816G>C (p.Thr272=)
|
rs765401978
|
|
NM_018100.4(EFHC1):c.819G>A (p.Val273=)
|
rs1764987409
|
|
NM_018100.4(EFHC1):c.840A>G (p.Glu280=)
|
rs1764987965
|
|
NM_018100.4(EFHC1):c.917-6T>C
|
|
|
NM_018100.4(EFHC1):c.917-7A>G
|
rs1266698847
|
|
NM_020822.3(KCNT1):c.1017C>T (p.Leu339=)
|
|
|
NM_020822.3(KCNT1):c.1020G>A (p.Val340=)
|
rs749129414
|
|
NM_020822.3(KCNT1):c.1029A>G (p.Pro343=)
|
|
|
NM_020822.3(KCNT1):c.1035+12G>A
|
|
|
NM_020822.3(KCNT1):c.1035+20G>A
|
|
|
NM_020822.3(KCNT1):c.1035+22_1035+37dup
|
|
|
NM_020822.3(KCNT1):c.1036-8del
|
rs766451840
|
|
NM_020822.3(KCNT1):c.1036-9C>T
|
|
|
NM_020822.3(KCNT1):c.1083C>T (p.Gly361=)
|
|
|
NM_020822.3(KCNT1):c.1089C>T (p.Tyr363=)
|
rs1832164748
|
|
NM_020822.3(KCNT1):c.108C>T (p.Pro36=)
|
|
|
NM_020822.3(KCNT1):c.110+16C>A
|
|
|
NM_020822.3(KCNT1):c.110+7T>A
|
|
|
NM_020822.3(KCNT1):c.110+9T>G
|
|
|
NM_020822.3(KCNT1):c.111-11dup
|
|
|
NM_020822.3(KCNT1):c.111-12G>C
|
rs768967168
|
|
NM_020822.3(KCNT1):c.111-18G>C
|
|
|
NM_020822.3(KCNT1):c.111-4G>A
|
|
|
NM_020822.3(KCNT1):c.111-6C>T
|
|
|
NM_020822.3(KCNT1):c.111-8G>C
|
rs779128853
|
|
NM_020822.3(KCNT1):c.111-8G>T
|
rs779128853
|
|
NM_020822.3(KCNT1):c.1128G>A (p.Leu376=)
|
|
|
NM_020822.3(KCNT1):c.1155T>C (p.Leu385=)
|
rs756900818
|
|
NM_020822.3(KCNT1):c.1194G>A (p.Arg398=)
|
|
|
NM_020822.3(KCNT1):c.1194G>T (p.Arg398=)
|
rs781506115
|
|
NM_020822.3(KCNT1):c.11C>G (p.Pro4Arg)
|
rs747733979
|
|
NM_020822.3(KCNT1):c.1200+8C>G
|
|
|
NM_020822.3(KCNT1):c.1201-17C>G
|
|
|
NM_020822.3(KCNT1):c.1201-4G>A
|
rs2131477231
|
|
NM_020822.3(KCNT1):c.1215C>A (p.Val405=)
|
|
|
NM_020822.3(KCNT1):c.123G>A (p.Ala41=)
|
rs1352859989
|
|
NM_020822.3(KCNT1):c.1251C>G (p.Arg417=)
|
|
|
NM_020822.3(KCNT1):c.126G>A (p.Gly42=)
|
rs1278186698
|
|
NM_020822.3(KCNT1):c.126G>T (p.Gly42=)
|
rs1278186698
|
|
NM_020822.3(KCNT1):c.1284G>A (p.Arg428=)
|
rs943112493
|
|
NM_020822.3(KCNT1):c.1287C>A (p.Val429=)
|
|
|
NM_020822.3(KCNT1):c.129C>T (p.Asp43=)
|
|
|
NM_020822.3(KCNT1):c.1306G>A (p.Ala436Thr)
|
rs1832220041
|
|
NM_020822.3(KCNT1):c.1311C>G (p.Leu437=)
|
rs770741523
|
|
NM_020822.3(KCNT1):c.1317C>T (p.Asp439=)
|
rs2131477940
|
|
NM_020822.3(KCNT1):c.1326C>T (p.Leu442=)
|
rs200910140
|
|
NM_020822.3(KCNT1):c.1326_1327delinsAT (p.Met443Leu)
|
rs1554773537
|
|
NM_020822.3(KCNT1):c.1335C>T (p.Ala445=)
|
rs751944320
|
|
NM_020822.3(KCNT1):c.1337+12T>A
|
|
|
NM_020822.3(KCNT1):c.1338-11G>A
|
|
|
NM_020822.3(KCNT1):c.1338-12G>C
|
|
|
NM_020822.3(KCNT1):c.1338-12G>T
|
rs1015003209
|
|
NM_020822.3(KCNT1):c.1338-16C>A
|
|
|
NM_020822.3(KCNT1):c.1353G>A (p.Glu451=)
|
rs1832498978
|
|
NM_020822.3(KCNT1):c.135G>A (p.Ala45=)
|
rs769898346
|
|
NM_020822.3(KCNT1):c.135G>C (p.Ala45=)
|
rs769898346
|
|
NM_020822.3(KCNT1):c.135G>T (p.Ala45=)
|
|
|
NM_020822.3(KCNT1):c.1365C>A (p.Ile455=)
|
|
|
NM_020822.3(KCNT1):c.139C>T (p.Leu47=)
|
rs2131329270
|
|
NM_020822.3(KCNT1):c.1401+17C>T
|
|
|
NM_020822.3(KCNT1):c.1401+7G>A
|
rs2131496908
|
|
NM_020822.3(KCNT1):c.1402-13C>T
|
|
|
NM_020822.3(KCNT1):c.1407C>T (p.His469=)
|
rs537722828
|
|
NM_020822.3(KCNT1):c.1409A>G (p.Gln470Arg)
|
rs773888049
|
|
NM_020822.3(KCNT1):c.1416C>T (p.Ile472=)
|
|
|
NM_020822.3(KCNT1):c.1440C>T (p.Asp480=)
|
rs2131497788
|
|
NM_020822.3(KCNT1):c.1455C>T (p.Cys485=)
|
|
|
NM_020822.3(KCNT1):c.1458C>A (p.Pro486=)
|
|
|
NM_020822.3(KCNT1):c.1461C>T (p.Leu487=)
|
rs763089040
|
|
NM_020822.3(KCNT1):c.1473C>A (p.Ile491=)
|
|
|
NM_020822.3(KCNT1):c.1473C>T (p.Ile491=)
|
rs1832518596
|
|
NM_020822.3(KCNT1):c.147C>A (p.Thr49=)
|
rs751274694
|
|
NM_020822.3(KCNT1):c.1488C>T (p.Asn496=)
|
|
|
NM_020822.3(KCNT1):c.150C>A (p.Ala50=)
|
rs761304952
|
|
NM_020822.3(KCNT1):c.1510+10G>C
|
rs921050767
|
|
NM_020822.3(KCNT1):c.1510+14A>G
|
|
|
NM_020822.3(KCNT1):c.1510+15C>A
|
rs1416512239
|
|
NM_020822.3(KCNT1):c.1510+17C>T
|
|
|
NM_020822.3(KCNT1):c.1510+31_1510+70del
|
rs780670028
|
|
NM_020822.3(KCNT1):c.1510+8T>C
|
|
|
NM_020822.3(KCNT1):c.1511-10C>T
|
|
|
NM_020822.3(KCNT1):c.1511-11A>T
|
rs2131504578
|
|
NM_020822.3(KCNT1):c.1511-12C>A
|
rs549024643
|
|
NM_020822.3(KCNT1):c.1511-12C>T
|
|
|
NM_020822.3(KCNT1):c.1511-19C>T
|
rs2131504498
|
|
NM_020822.3(KCNT1):c.1512C>T (p.Asp504=)
|
|
|
NM_020822.3(KCNT1):c.1518G>A (p.Val506=)
|
|
|
NM_020822.3(KCNT1):c.152G>C (p.Gly51Ala)
|
rs1554763393
|
|
NM_020822.3(KCNT1):c.1596G>A (p.Leu532=)
|
|
|
NM_020822.3(KCNT1):c.1602G>A (p.Val534=)
|
rs2131505379
|
|
NM_020822.3(KCNT1):c.1611C>G (p.Ser537=)
|
rs2131505461
|
|
NM_020822.3(KCNT1):c.1619+13T>A
|
rs2131505684
|
|
NM_020822.3(KCNT1):c.1619+13_1619+19del
|
|
|
NM_020822.3(KCNT1):c.1619+16C>T
|
|
|
NM_020822.3(KCNT1):c.1619+17C>A
|
rs1384470539
|
|
NM_020822.3(KCNT1):c.1619+17C>T
|
|
|
NM_020822.3(KCNT1):c.1619+18C>G
|
|
|
NM_020822.3(KCNT1):c.1619+19G>A
|
rs374386910
|
|
NM_020822.3(KCNT1):c.1619+20_1619+27del
|
rs1064795535
|
|
NM_020822.3(KCNT1):c.1619+5GTGCCCC[3]
|
rs573524284
|
|
NM_020822.3(KCNT1):c.1620-12C>T
|
|
|
NM_020822.3(KCNT1):c.1620-15C>G
|
|
|
NM_020822.3(KCNT1):c.1620-15_1620-5del
|
rs761464076
|
|
NM_020822.3(KCNT1):c.1620-9G>C
|
|
|
NM_020822.3(KCNT1):c.1653C>T (p.Arg551=)
|
rs1832666302
|
|
NM_020822.3(KCNT1):c.165C>T (p.Ser55=)
|
|
|
NM_020822.3(KCNT1):c.1683G>A (p.Val561=)
|
rs1253303573
|
|
NM_020822.3(KCNT1):c.1686C>T (p.Tyr562=)
|
rs760141025
|
|
NM_020822.3(KCNT1):c.1687C>T (p.His563Tyr)
|
rs1190253737
|
|
NM_020822.3(KCNT1):c.1695C>A (p.Arg565=)
|
rs553208215
|
|
NM_020822.3(KCNT1):c.1695C>T (p.Arg565=)
|
|
|
NM_020822.3(KCNT1):c.1704C>T (p.Asp568=)
|
|
|
NM_020822.3(KCNT1):c.1713C>T (p.Phe571=)
|
|
|
NM_020822.3(KCNT1):c.1731C>A (p.Gly577=)
|
|
|
NM_020822.3(KCNT1):c.1737C>T (p.Ser579=)
|
rs775919081
|
|
NM_020822.3(KCNT1):c.173A>G (p.Asp58Gly)
|
rs1588255313
|
|
NM_020822.3(KCNT1):c.1749G>C (p.Ala583=)
|
rs17038714
|
|
NM_020822.3(KCNT1):c.174C>T (p.Asp58=)
|
rs2131329369
|
|
NM_020822.3(KCNT1):c.1752C>T (p.Ala584=)
|
|
|
NM_020822.3(KCNT1):c.1764C>T (p.His588=)
|
|
|
NM_020822.3(KCNT1):c.1769+11del
|
rs2131508480
|
|
NM_020822.3(KCNT1):c.1769+15_1769+16inv
|
|
|
NM_020822.3(KCNT1):c.1769+19C>T
|
|
|
NM_020822.3(KCNT1):c.1769+20A>G
|
rs1057524400
|
|
NM_020822.3(KCNT1):c.1769+8C>A
|
rs371287985
|
|
NM_020822.3(KCNT1):c.1770-10C>G
|
|
|
NM_020822.3(KCNT1):c.1770-20T>C
|
rs1239661382
|
|
NM_020822.3(KCNT1):c.1770-7T>C
|
|
|
NM_020822.3(KCNT1):c.1779G>A (p.Val593=)
|
rs748744989
|
|
NM_020822.3(KCNT1):c.1779G>T (p.Val593=)
|
rs748744989
|
|
NM_020822.3(KCNT1):c.1794G>C (p.Leu598=)
|
rs1588361953
|
|
NM_020822.3(KCNT1):c.1799G>A (p.Arg600Gln)
|
rs773621687
|
|
NM_020822.3(KCNT1):c.1815C>T (p.Ser605=)
|
rs113201678
|
|
NM_020822.3(KCNT1):c.1822C>T (p.Leu608=)
|
|
|
NM_020822.3(KCNT1):c.1824G>A (p.Leu608=)
|
rs764141661
|
|
NM_020822.3(KCNT1):c.1830G>C (p.Pro610=)
|
rs780892917
|
|
NM_020822.3(KCNT1):c.1839G>T (p.Arg613=)
|
|
|
NM_020822.3(KCNT1):c.183G>A (p.Val61=)
|
|
|
NM_020822.3(KCNT1):c.1860C>T (p.Asp620=)
|
|
|
NM_020822.3(KCNT1):c.1881C>T (p.Ile627=)
|
rs1554775088
|
|
NM_020822.3(KCNT1):c.1893G>A (p.Glu631=)
|
rs2131511290
|
|
NM_020822.3(KCNT1):c.1935G>A (p.Lys645=)
|
|
|
NM_020822.3(KCNT1):c.1950G>T (p.Gly650=)
|
|
|
NM_020822.3(KCNT1):c.1953G>A (p.Gln651=)
|
|
|
NM_020822.3(KCNT1):c.1956G>T (p.Gly652=)
|
|
|
NM_020822.3(KCNT1):c.1963G>C (p.Glu655Gln)
|
rs770039542
|
|
NM_020822.3(KCNT1):c.198G>A (p.Pro66=)
|
|
|
NM_020822.3(KCNT1):c.1998C>A (p.Ile666=)
|
rs368777569
|
|
NM_020822.3(KCNT1):c.2001C>T (p.Ala667=)
|
|
|
NM_020822.3(KCNT1):c.2008+17G>A
|
|
|
NM_020822.3(KCNT1):c.2009-12G>A
|
|
|
NM_020822.3(KCNT1):c.2009-13G>T
|
rs1391208726
|
|
NM_020822.3(KCNT1):c.2009-7C>T
|
rs935840917
|
|
NM_020822.3(KCNT1):c.2016G>C (p.Val672=)
|
|
|
NM_020822.3(KCNT1):c.2019C>T (p.Ala673=)
|
|
|
NM_020822.3(KCNT1):c.2025C>T (p.Asp675=)
|
|
|
NM_020822.3(KCNT1):c.2030A>G (p.Gln677Arg)
|
rs1060505000
|
|
NM_020822.3(KCNT1):c.2036C>T (p.Thr679Ile)
|
rs2131520253
|
|
NM_020822.3(KCNT1):c.2039A>G (p.Glu680Gly)
|
rs1207174167
|
|
NM_020822.3(KCNT1):c.204C>T (p.Tyr68=)
|
rs2131329436
|
|
NM_020822.3(KCNT1):c.2055G>A (p.Gln685=)
|
|
|
NM_020822.3(KCNT1):c.2061C>A (p.Gly687=)
|
rs748229745
|
|
NM_020822.3(KCNT1):c.2064T>C (p.Gly688=)
|
|
|
NM_020822.3(KCNT1):c.2087C>T (p.Ala696Val)
|
rs775382017
|
|
NM_020822.3(KCNT1):c.2089C>T (p.Leu697=)
|
rs1218571907
|
|
NM_020822.3(KCNT1):c.2091G>A (p.Leu697=)
|
|
|
NM_020822.3(KCNT1):c.2109G>A (p.Ser703=)
|
rs767200583
|
|
NM_020822.3(KCNT1):c.2121G>A (p.Arg707=)
|
rs2131521147
|
|
NM_020822.3(KCNT1):c.2130C>T (p.Ile710=)
|
rs1832851605
|
|
NM_020822.3(KCNT1):c.2146C>T (p.Leu716=)
|
rs752522838
|
|
NM_020822.3(KCNT1):c.2151C>A (p.Ala717=)
|
|
|
NM_020822.3(KCNT1):c.2151C>T (p.Ala717=)
|
rs758589013
|
|
NM_020822.3(KCNT1):c.2172C>G (p.Pro724=)
|
rs1354699667
|
|
NM_020822.3(KCNT1):c.2172C>T (p.Pro724=)
|
|
|
NM_020822.3(KCNT1):c.2175C>T (p.Cys725=)
|
rs368450848
|
|
NM_020822.3(KCNT1):c.2190C>T (p.Asp730=)
|
rs2131521695
|
|
NM_020822.3(KCNT1):c.220C>T (p.Leu74=)
|
rs943048769
|
|
NM_020822.3(KCNT1):c.2211G>T (p.Thr737=)
|
|
|
NM_020822.3(KCNT1):c.2214G>T (p.Pro738=)
|
|
|
NM_020822.3(KCNT1):c.2220C>T (p.Asp740=)
|
rs148162797
|
|
NM_020822.3(KCNT1):c.2222A>G (p.Asp741Gly)
|
rs756359375
|
|
NM_020822.3(KCNT1):c.2229G>A (p.Gly743=)
|
rs1289338720
|
|
NM_020822.3(KCNT1):c.2229G>T (p.Gly743=)
|
rs1289338720
|
|
NM_020822.3(KCNT1):c.2232C>G (p.Leu744=)
|
rs1281401990
|
|
NM_020822.3(KCNT1):c.2238G>A (p.Val746=)
|
|
|
NM_020822.3(KCNT1):c.2243+10G>A
|
|
|
NM_020822.3(KCNT1):c.2243+10G>T
|
|
|
NM_020822.3(KCNT1):c.2243+20C>T
|
rs989956820
|
|
NM_020822.3(KCNT1):c.2244-14G>A
|
|
|
NM_020822.3(KCNT1):c.2244-20G>A
|
|
|
NM_020822.3(KCNT1):c.2280C>T (p.Ile760=)
|
rs370521183
|
|
NM_020822.3(KCNT1):c.2296C>T (p.Leu766=)
|
rs2131535193
|
|
NM_020822.3(KCNT1):c.2328C>T (p.Phe776=)
|
rs1588376018
|
|
NM_020822.3(KCNT1):c.2337G>A (p.Leu779=)
|
rs544099606
|
|
NM_020822.3(KCNT1):c.2338C>A (p.Arg780=)
|
|
|
NM_020822.3(KCNT1):c.2349+19C>T
|
|
|
NM_020822.3(KCNT1):c.2349+6G>T
|
rs1418169170
|
|
NM_020822.3(KCNT1):c.2349+8del
|
rs748745850
|
|
NM_020822.3(KCNT1):c.2350-13_2350-12insCCTGACTCCAGT
|
|
|
NM_020822.3(KCNT1):c.2350-8G>T
|
|
|
NM_020822.3(KCNT1):c.2370T>C (p.Tyr790=)
|
rs1588380952
|
|
NM_020822.3(KCNT1):c.2391G>A (p.Gly797=)
|
rs2131543508
|
|
NM_020822.3(KCNT1):c.2397G>A (p.Lys799=)
|
|
|
NM_020822.3(KCNT1):c.240C>T (p.Phe80=)
|
rs1554763398
|
|
NM_020822.3(KCNT1):c.2418G>T (p.Ser806=)
|
rs142726010
|
|
NM_020822.3(KCNT1):c.2433C>T (p.Gly811=)
|
|
|
NM_020822.3(KCNT1):c.2436T>C (p.Asn812=)
|
|
|
NM_020822.3(KCNT1):c.2451C>T (p.Phe817=)
|
rs942926305
|
|
NM_020822.3(KCNT1):c.2457G>A (p.Val819=)
|
|
|
NM_020822.3(KCNT1):c.2464C>A (p.Arg822=)
|
|
|
NM_020822.3(KCNT1):c.2466G>A (p.Arg822=)
|
|
|
NM_020822.3(KCNT1):c.2469C>A (p.Ala823=)
|
|
|
NM_020822.3(KCNT1):c.2475C>T (p.Tyr825=)
|
rs2131543938
|
|
NM_020822.3(KCNT1):c.2493G>A (p.Leu831=)
|
|
|
NM_020822.3(KCNT1):c.2505G>A (p.Val835=)
|
|
|
NM_020822.3(KCNT1):c.2509C>T (p.Leu837=)
|
rs2131544108
|
|
NM_020822.3(KCNT1):c.2522+12G>A
|
|
|
NM_020822.3(KCNT1):c.2522+15G>A
|
rs1313134564
|
|
NM_020822.3(KCNT1):c.2522+28_2522+36del
|
rs759743096
|
|
NM_020822.3(KCNT1):c.2522+28_2522+36dup
|
rs759743096
|
|
NM_020822.3(KCNT1):c.2522+28_2522+82del
|
|
|
NM_020822.3(KCNT1):c.2523-12C>T
|
rs1007419018
|
|
NM_020822.3(KCNT1):c.2523-14C>T
|
|
|
NM_020822.3(KCNT1):c.254+10G>A
|
|
|
NM_020822.3(KCNT1):c.254+11_254+12insTAGGGACCGGGC
|
|
|
NM_020822.3(KCNT1):c.254+12_254+13insTG
|
rs1443453581
|
|
NM_020822.3(KCNT1):c.254+15C>T
|
|
|
NM_020822.3(KCNT1):c.254+17G>A
|
rs1425749928
|
|
NM_020822.3(KCNT1):c.254+18G>A
|
|
|
NM_020822.3(KCNT1):c.255-11T>C
|
|
|
NM_020822.3(KCNT1):c.255-14C>T
|
|
|
NM_020822.3(KCNT1):c.255-16CT[2]
|
rs760287830
|
|
NM_020822.3(KCNT1):c.2592C>T (p.Asp864=)
|
|
|
NM_020822.3(KCNT1):c.2594+10G>A
|
rs2131548582
|
|
NM_020822.3(KCNT1):c.2594+13C>T
|
|
|
NM_020822.3(KCNT1):c.2594+7C>A
|
rs545094921
|
|
NM_020822.3(KCNT1):c.2594+8G>A
|
|
|
NM_020822.3(KCNT1):c.2595-11C>T
|
|
|
NM_020822.3(KCNT1):c.2595-4C>T
|
|
|
NM_020822.3(KCNT1):c.2595-7C>T
|
|
|
NM_020822.3(KCNT1):c.2598G>A (p.Leu866=)
|
rs2131549376
|
|
NM_020822.3(KCNT1):c.2598G>T (p.Leu866=)
|
|
|
NM_020822.3(KCNT1):c.2601C>T (p.Asp867=)
|
rs1833360129
|
|
NM_020822.3(KCNT1):c.2610G>A (p.Leu870=)
|
|
|
NM_020822.3(KCNT1):c.2622C>T (p.Ile874=)
|
|
|
NM_020822.3(KCNT1):c.2628T>C (p.Tyr876=)
|
rs2131549484
|
|
NM_020822.3(KCNT1):c.2638C>T (p.Leu880=)
|
rs1588384964
|
|
NM_020822.3(KCNT1):c.2643G>C (p.Val881=)
|
|
|
NM_020822.3(KCNT1):c.2646G>A (p.Val882=)
|
|
|
NM_020822.3(KCNT1):c.267G>A (p.Glu89=)
|
rs917179079
|
|
NM_020822.3(KCNT1):c.2685C>T (p.Tyr895=)
|
|
|
NM_020822.3(KCNT1):c.2721C>T (p.Thr907=)
|
rs1588385244
|
|
NM_020822.3(KCNT1):c.2729+10G>A
|
|
|
NM_020822.3(KCNT1):c.2729+20C>T
|
|
|
NM_020822.3(KCNT1):c.2730-15_2730-9dup
|
|
|
NM_020822.3(KCNT1):c.2730-4C>G
|
|
|
NM_020822.3(KCNT1):c.2730-6C>T
|
rs1300286037
|
|
NM_020822.3(KCNT1):c.2733C>G (p.Leu911=)
|
|
|
NM_020822.3(KCNT1):c.2736C>T (p.Phe912=)
|
rs780650756
|
|
NM_020822.3(KCNT1):c.2739C>T (p.Pro913=)
|
rs140516977
|
|
NM_020822.3(KCNT1):c.2745C>T (p.Leu915=)
|
|
|
NM_020822.3(KCNT1):c.2751C>T (p.Ile917=)
|
|
|
NM_020822.3(KCNT1):c.2757G>C (p.Thr919=)
|
rs775752475
|
|
NM_020822.3(KCNT1):c.2766C>G (p.Thr922=)
|
|
|
NM_020822.3(KCNT1):c.2778C>T (p.Asn926=)
|
rs1833435836
|
|
NM_020822.3(KCNT1):c.2787C>T (p.Phe929=)
|
|
|
NM_020822.3(KCNT1):c.2809A>G (p.Ser937Gly)
|
rs1554778379
|
|
NM_020822.3(KCNT1):c.2833C>T (p.Leu945=)
|
rs759566793
|
|
NM_020822.3(KCNT1):c.2835A>T (p.Leu945=)
|
rs1401533323
|
|
NM_020822.3(KCNT1):c.2841+17C>T
|
|
|
NM_020822.3(KCNT1):c.2841+8G>A
|
rs1833445005
|
|
NM_020822.3(KCNT1):c.2842-11C>T
|
rs1051472581
|
|
NM_020822.3(KCNT1):c.2842-11_2842-9del
|
|
|
NM_020822.3(KCNT1):c.2842-16C>T
|
|
|
NM_020822.3(KCNT1):c.2842-18G>T
|
|
|
NM_020822.3(KCNT1):c.2842-25_2842-15del
|
rs2131570559
|
|
NM_020822.3(KCNT1):c.2842-36_2842-12del
|
|
|
NM_020822.3(KCNT1):c.2842-6C>T
|
rs2131570804
|
|
NM_020822.3(KCNT1):c.2847G>A (p.Glu949=)
|
rs779429071
|
|
NM_020822.3(KCNT1):c.2862C>T (p.Ser954=)
|
rs2131570981
|
|
NM_020822.3(KCNT1):c.2866C>T (p.Leu956=)
|
|
|
NM_020822.3(KCNT1):c.2889G>A (p.Pro963=)
|
rs376839128
|
|
NM_020822.3(KCNT1):c.288C>G (p.Thr96=)
|
|
|
NM_020822.3(KCNT1):c.288C>T (p.Thr96=)
|
rs764504563
|
|
NM_020822.3(KCNT1):c.2910C>T (p.Phe970=)
|
|
|
NM_020822.3(KCNT1):c.2916C>T (p.Ile972=)
|
rs878855056
|
|
NM_020822.3(KCNT1):c.2940C>T (p.Tyr980=)
|
rs1554779778
|
|
NM_020822.3(KCNT1):c.2943+10G>C
|
rs1165451009
|
|
NM_020822.3(KCNT1):c.2943+15G>A
|
rs369299178
|
|
NM_020822.3(KCNT1):c.2943+15G>C
|
|
|
NM_020822.3(KCNT1):c.2943+15G>T
|
|
|
NM_020822.3(KCNT1):c.2943+19G>A
|
|
|
NM_020822.3(KCNT1):c.2944-10_2944-9insTCTCCCTC
|
rs1833876769
|
|
NM_020822.3(KCNT1):c.2944-13_2944-6dup
|
|
|
NM_020822.3(KCNT1):c.2944-14_2944-13insTCTC
|
|
|
NM_020822.3(KCNT1):c.2944-15_2944-14insTCCT
|
|
|
NM_020822.3(KCNT1):c.2944-19_2944-13del
|
rs1487601601
|
|
NM_020822.3(KCNT1):c.2944-6G>C
|
rs1452612792
|
|
NM_020822.3(KCNT1):c.2944-8C>G
|
|
|
NM_020822.3(KCNT1):c.2946C>T (p.Ser982=)
|
rs2131574304
|
|
NM_020822.3(KCNT1):c.2958C>T (p.Asp986=)
|
|
|
NM_020822.3(KCNT1):c.2970C>T (p.Thr990=)
|
|
|
NM_020822.3(KCNT1):c.2973C>T (p.Ile991=)
|
rs781212036
|
|
NM_020822.3(KCNT1):c.2976C>T (p.Thr992=)
|
rs1331320043
|
|
NM_020822.3(KCNT1):c.298C>A (p.Arg100=)
|
|
|
NM_020822.3(KCNT1):c.2992C>T (p.Leu998=)
|
|
|
NM_020822.3(KCNT1):c.3003G>A (p.Thr1001=)
|
rs560435329
|
|
NM_020822.3(KCNT1):c.3027+10C>T
|
|
|
NM_020822.3(KCNT1):c.3027+10_3027+23del
|
|
|
NM_020822.3(KCNT1):c.3027+12_3027+13insC
|
|
|
NM_020822.3(KCNT1):c.3027+13G>C
|
|
|
NM_020822.3(KCNT1):c.3027+18_3027+22del
|
rs778352896
|
|
NM_020822.3(KCNT1):c.3027+8C>G
|
|
|
NM_020822.3(KCNT1):c.3028-10C>G
|
rs2131575320
|
|
NM_020822.3(KCNT1):c.3028-8C>T
|
rs2131575328
|
|
NM_020822.3(KCNT1):c.3060C>T (p.Arg1020=)
|
|
|
NM_020822.3(KCNT1):c.3072C>G (p.Arg1024=)
|
|
|
NM_020822.3(KCNT1):c.30G>C (p.Pro10=)
|
|
|
NM_020822.3(KCNT1):c.30G>T (p.Pro10=)
|
rs139034501
|
|
NM_020822.3(KCNT1):c.3102C>T (p.Ala1034=)
|
rs1176639976
|
|
NM_020822.3(KCNT1):c.3129A>G (p.Thr1043=)
|
|
|
NM_020822.3(KCNT1):c.3156+14C>A
|
|
|
NM_020822.3(KCNT1):c.3156+15_3156+37del
|
rs777726660
|
|
NM_020822.3(KCNT1):c.3156+15_3156+71del
|
rs1564391620
|
|
NM_020822.3(KCNT1):c.3156+19G>A
|
rs1364101045
|
|
NM_020822.3(KCNT1):c.3156+9G>A
|
|
|
NM_020822.3(KCNT1):c.3157-15C>G
|
|
|
NM_020822.3(KCNT1):c.3157-18C>A
|
rs367695978
|
|
NM_020822.3(KCNT1):c.3157-18C>T
|
|
|
NM_020822.3(KCNT1):c.3157-20T>C
|
rs774520067
|
|
NM_020822.3(KCNT1):c.3157-20T>G
|
|
|
NM_020822.3(KCNT1):c.3165C>T (p.Asp1055=)
|
|
|
NM_020822.3(KCNT1):c.3174C>T (p.Ala1058=)
|
rs2131577612
|
|
NM_020822.3(KCNT1):c.3177+15C>T
|
|
|
NM_020822.3(KCNT1):c.3177+16G>T
|
|
|
NM_020822.3(KCNT1):c.3177+9C>A
|
rs781750496
|
|
NM_020822.3(KCNT1):c.3178-14C>T
|
|
|
NM_020822.3(KCNT1):c.3178-19C>T
|
|
|
NM_020822.3(KCNT1):c.3178-6_3178-5insT
|
|
|
NM_020822.3(KCNT1):c.3183G>A (p.Gln1061=)
|
|
|
NM_020822.3(KCNT1):c.3189G>A (p.Ser1063=)
|
|
|
NM_020822.3(KCNT1):c.3189G>C (p.Ser1063=)
|
rs777914546
|
|
NM_020822.3(KCNT1):c.3189G>T (p.Ser1063=)
|
rs777914546
|
|
NM_020822.3(KCNT1):c.3198G>A (p.Val1066=)
|
|
|
NM_020822.3(KCNT1):c.3217C>T (p.Arg1073Trp)
|
rs768536067
|
|
NM_020822.3(KCNT1):c.3218G>A (p.Arg1073Gln)
|
|
|
NM_020822.3(KCNT1):c.3219G>A (p.Arg1073=)
|
|
|
NM_020822.3(KCNT1):c.3225G>A (p.Val1075=)
|
|
|
NM_020822.3(KCNT1):c.3254C>T (p.Thr1085Ile)
|
|
|
NM_020822.3(KCNT1):c.3260G>A (p.Gly1087Asp)
|
rs1834040486
|
|
NM_020822.3(KCNT1):c.3294C>T (p.Asp1098=)
|
|
|
NM_020822.3(KCNT1):c.3297C>G (p.Pro1099=)
|
rs759060691
|
|
NM_020822.3(KCNT1):c.3316C>A (p.Arg1106=)
|
rs542409033
|
|
NM_020822.3(KCNT1):c.3318G>A (p.Arg1106=)
|
rs2131582189
|
|
NM_020822.3(KCNT1):c.3326G>A (p.Ser1109Asn)
|
rs1588407944
|
|
NM_020822.3(KCNT1):c.3327C>T (p.Ser1109=)
|
|
|
NM_020822.3(KCNT1):c.3328C>T (p.Leu1110=)
|
|
|
NM_020822.3(KCNT1):c.3333G>A (p.Gln1111=)
|
rs960008558
|
|
NM_020822.3(KCNT1):c.3339C>A (p.Ala1113=)
|
|
|
NM_020822.3(KCNT1):c.334+10G>C
|
|
|
NM_020822.3(KCNT1):c.334+12G>A
|
|
|
NM_020822.3(KCNT1):c.334+13C>G
|
|
|
NM_020822.3(KCNT1):c.334+14C>G
|
rs2131408140
|
|
NM_020822.3(KCNT1):c.334+16G>A
|
|
|
NM_020822.3(KCNT1):c.334+7G>A
|
rs1057522631
|
|
NM_020822.3(KCNT1):c.334+8_334+12del
|
|
|
NM_020822.3(KCNT1):c.335-14T>C
|
|
|
NM_020822.3(KCNT1):c.335-14T>G
|
|
|
NM_020822.3(KCNT1):c.335-17C>A
|
rs764048972
|
|
NM_020822.3(KCNT1):c.335-17C>T
|
|
|
NM_020822.3(KCNT1):c.3354C>T (p.Arg1118=)
|
|
|
NM_020822.3(KCNT1):c.3369G>A (p.Gln1123=)
|
rs2131582485
|
|
NM_020822.3(KCNT1):c.3387C>G (p.Ala1129=)
|
rs372410150
|
|
NM_020822.3(KCNT1):c.3389C>T (p.Ala1130Val)
|
|
|
NM_020822.3(KCNT1):c.3417C>T (p.Ser1139=)
|
|
|
NM_020822.3(KCNT1):c.3418C>T (p.Leu1140=)
|
|
|
NM_020822.3(KCNT1):c.3426G>A (p.Arg1142=)
|
|
|
NM_020822.3(KCNT1):c.3428G>A (p.Arg1143His)
|
rs1182743416
|
|
NM_020822.3(KCNT1):c.3461A>G (p.Lys1154Arg)
|
rs779810960
|
|
NM_020822.3(KCNT1):c.3464A>C (p.Asn1155Thr)
|
rs1283268556
|
|
NM_020822.3(KCNT1):c.3478C>T (p.Leu1160=)
|
|
|
NM_020822.3(KCNT1):c.3502+12C>G
|
rs367727105
|
|
NM_020822.3(KCNT1):c.3502+14G>A
|
|
|
NM_020822.3(KCNT1):c.3502+15C>T
|
|
|
NM_020822.3(KCNT1):c.3502+9A>G
|
rs2131583276
|
|
NM_020822.3(KCNT1):c.3503-10T>C
|
|
|
NM_020822.3(KCNT1):c.3503-19C>T
|
|
|
NM_020822.3(KCNT1):c.3503-7T>A
|
rs559088025
|
|
NM_020822.3(KCNT1):c.3513C>T (p.Asn1171=)
|
rs1206106180
|
|
NM_020822.3(KCNT1):c.3534C>A (p.Ser1178=)
|
rs1588422518
|
|
NM_020822.3(KCNT1):c.3540C>T (p.Val1180=)
|
rs185469582
|
|
NM_020822.3(KCNT1):c.3544A>C (p.Ile1182Leu)
|
rs1161862851
|
|
NM_020822.3(KCNT1):c.3555G>A (p.Pro1185=)
|
rs144068763
|
|
NM_020822.3(KCNT1):c.3558C>A (p.Pro1186=)
|
rs148525032
|
|
NM_020822.3(KCNT1):c.3558C>T (p.Pro1186=)
|
rs148525032
|
|
NM_020822.3(KCNT1):c.3564G>C (p.Thr1188=)
|
rs530040739
|
|
NM_020822.3(KCNT1):c.3564G>T (p.Thr1188=)
|
|
|
NM_020822.3(KCNT1):c.3567G>A (p.Arg1189=)
|
rs2131604834
|
|
NM_020822.3(KCNT1):c.3570G>A (p.Leu1190=)
|
rs1247173859
|
|
NM_020822.3(KCNT1):c.3587+12C>T
|
|
|
NM_020822.3(KCNT1):c.3587+13_3587+44del
|
rs1426064441
|
|
NM_020822.3(KCNT1):c.3588-10C>T
|
|
|
NM_020822.3(KCNT1):c.3588-13_3588-12del
|
rs2131605777
|
|
NM_020822.3(KCNT1):c.3588-14G>A
|
|
|
NM_020822.3(KCNT1):c.3588-9C>T
|
rs2131605802
|
|
NM_020822.3(KCNT1):c.3600C>G (p.Arg1200=)
|
|
|
NM_020822.3(KCNT1):c.3600C>T (p.Arg1200=)
|
rs144658404
|
|
NM_020822.3(KCNT1):c.3603C>T (p.Ser1201=)
|
rs769180686
|
|
NM_020822.3(KCNT1):c.3622G>A (p.Ala1208Thr)
|
rs1564402008
|
|
NM_020822.3(KCNT1):c.3624C>T (p.Ala1208=)
|
rs1372740051
|
|
NM_020822.3(KCNT1):c.3648C>T (p.Ser1216=)
|
rs1834583279
|
|
NM_020822.3(KCNT1):c.364C>T (p.Leu122=)
|
rs2131411142
|
|
NM_020822.3(KCNT1):c.3653G>A (p.Cys1218Tyr)
|
rs758465935
|
|
NM_020822.3(KCNT1):c.3669G>A (p.Ser1223=)
|
rs556454353
|
|
NM_020822.3(KCNT1):c.3699A>C (p.Thr1233=)
|
rs750109650
|
|
NM_020822.3(KCNT1):c.3699A>G (p.Thr1233=)
|
|
|
NM_020822.3(KCNT1):c.36C>G (p.Gly12=)
|
rs1442852201
|
|
NM_020822.3(KCNT1):c.372G>A (p.Leu124=)
|
rs1398608504
|
|
NM_020822.3(KCNT1):c.399C>A (p.Arg133=)
|
rs377259793
|
|
NM_020822.3(KCNT1):c.399C>T (p.Arg133=)
|
rs377259793
|
|
NM_020822.3(KCNT1):c.402C>G (p.Val134=)
|
|
|
NM_020822.3(KCNT1):c.417G>A (p.Pro139=)
|
rs542441332
|
|
NM_020822.3(KCNT1):c.417G>C (p.Pro139=)
|
|
|
NM_020822.3(KCNT1):c.434+10G>C
|
rs187872786
|
|
NM_020822.3(KCNT1):c.434+14G>A
|
|
|
NM_020822.3(KCNT1):c.434+16G>A
|
rs560535799
|
|
NM_020822.3(KCNT1):c.435-10C>T
|
rs2131422803
|
|
NM_020822.3(KCNT1):c.435-17G>C
|
|
|
NM_020822.3(KCNT1):c.435-18C>T
|
rs1057523539
|
|
NM_020822.3(KCNT1):c.491+18C>G
|
rs748233532
|
|
NM_020822.3(KCNT1):c.491+18C>T
|
|
|
NM_020822.3(KCNT1):c.491+7C>T
|
rs538968704
|
|
NM_020822.3(KCNT1):c.492-10C>G
|
|
|
NM_020822.3(KCNT1):c.492-14C>G
|
|
|
NM_020822.3(KCNT1):c.492-15C>T
|
|
|
NM_020822.3(KCNT1):c.492-19G>A
|
|
|
NM_020822.3(KCNT1):c.497C>T (p.Pro166Leu)
|
|
|
NM_020822.3(KCNT1):c.498T>C (p.Pro166=)
|
rs1402179280
|
|
NM_020822.3(KCNT1):c.504G>A (p.Leu168=)
|
rs1588317741
|
|
NM_020822.3(KCNT1):c.504G>C (p.Leu168=)
|
|
|
NM_020822.3(KCNT1):c.513G>A (p.Glu171=)
|
|
|
NM_020822.3(KCNT1):c.51G>A (p.Ala17=)
|
|
|
NM_020822.3(KCNT1):c.526C>T (p.Leu176=)
|
rs1395075330
|
|
NM_020822.3(KCNT1):c.528G>A (p.Leu176=)
|
rs2131427169
|
|
NM_020822.3(KCNT1):c.534G>A (p.Ala178=)
|
rs144250793
|
|
NM_020822.3(KCNT1):c.53G>A (p.Arg18His)
|
rs753714293
|
|
NM_020822.3(KCNT1):c.540+14C>T
|
|
|
NM_020822.3(KCNT1):c.541-14T>C
|
|
|
NM_020822.3(KCNT1):c.541-16C>A
|
|
|
NM_020822.3(KCNT1):c.541-16C>T
|
|
|
NM_020822.3(KCNT1):c.541-17C>T
|
|
|
NM_020822.3(KCNT1):c.541-7C>A
|
rs1489319809
|
|
NM_020822.3(KCNT1):c.54C>A (p.Arg18=)
|
|
|
NM_020822.3(KCNT1):c.54C>G (p.Arg18=)
|
rs754697766
|
|
NM_020822.3(KCNT1):c.54C>T (p.Arg18=)
|
rs754697766
|
|
NM_020822.3(KCNT1):c.573G>A (p.Thr191=)
|
rs375310989
|
|
NM_020822.3(KCNT1):c.573G>C (p.Thr191=)
|
rs375310989
|
|
NM_020822.3(KCNT1):c.57C>G (p.Gly19=)
|
|
|
NM_020822.3(KCNT1):c.57C>T (p.Gly19=)
|
rs1245480933
|
|
NM_020822.3(KCNT1):c.582C>T (p.Leu194=)
|
|
|
NM_020822.3(KCNT1):c.588C>T (p.Tyr196=)
|
rs2131434951
|
|
NM_020822.3(KCNT1):c.600+11G>T
|
|
|
NM_020822.3(KCNT1):c.600+12C>T
|
|
|
NM_020822.3(KCNT1):c.600+14C>T
|
|
|
NM_020822.3(KCNT1):c.600+15G>A
|
|
|
NM_020822.3(KCNT1):c.600+16G>A
|
rs764442404
|
|
NM_020822.3(KCNT1):c.600+17G>A
|
rs1182136206
|
|
NM_020822.3(KCNT1):c.600+8C>T
|
rs1588321982
|
|
NM_020822.3(KCNT1):c.601-13C>T
|
rs202113794
|
|
NM_020822.3(KCNT1):c.601-14C>T
|
|
|
NM_020822.3(KCNT1):c.601-17C>T
|
|
|
NM_020822.3(KCNT1):c.601-18C>A
|
|
|
NM_020822.3(KCNT1):c.601-18C>T
|
rs762196150
|
|
NM_020822.3(KCNT1):c.615G>A (p.Glu205=)
|
|
|
NM_020822.3(KCNT1):c.621C>A (p.Ile207=)
|
rs1185207674
|
|
NM_020822.3(KCNT1):c.627C>T (p.Arg209=)
|
rs1417508265
|
|
NM_020822.3(KCNT1):c.654C>T (p.Asn218=)
|
|
|
NM_020822.3(KCNT1):c.672C>T (p.Ile224=)
|
|
|
NM_020822.3(KCNT1):c.675+11C>A
|
|
|
NM_020822.3(KCNT1):c.675+12C>G
|
rs1322006932
|
|
NM_020822.3(KCNT1):c.675+15G>T
|
rs1171483239
|
|
NM_020822.3(KCNT1):c.676-11C>A
|
|
|
NM_020822.3(KCNT1):c.676-14T>C
|
|
|
NM_020822.3(KCNT1):c.676-18G>A
|
|
|
NM_020822.3(KCNT1):c.700C>T (p.Leu234=)
|
rs1831563332
|
|
NM_020822.3(KCNT1):c.702G>A (p.Leu234=)
|
rs2131438438
|
|
NM_020822.3(KCNT1):c.711C>T (p.Pro237=)
|
rs117286274
|
|
NM_020822.3(KCNT1):c.720G>C (p.Leu240=)
|
rs2131438525
|
|
NM_020822.3(KCNT1):c.73C>A (p.Arg25=)
|
|
|
NM_020822.3(KCNT1):c.744G>T (p.Ala248=)
|
|
|
NM_020822.3(KCNT1):c.747G>A (p.Leu249=)
|
|
|
NM_020822.3(KCNT1):c.759+10G>A
|
rs1378294661
|
|
NM_020822.3(KCNT1):c.759+11G>T
|
|
|
NM_020822.3(KCNT1):c.759+12C>T
|
|
|
NM_020822.3(KCNT1):c.759+13G>C
|
rs375237065
|
|
NM_020822.3(KCNT1):c.759+13G>T
|
|
|
NM_020822.3(KCNT1):c.759+14G>C
|
rs2131438888
|
|
NM_020822.3(KCNT1):c.759+16G>A
|
rs1362410976
|
|
NM_020822.3(KCNT1):c.759+18G>A
|
rs748532863
|
|
NM_020822.3(KCNT1):c.759+18G>T
|
|
|
NM_020822.3(KCNT1):c.760-13A>T
|
|
|
NM_020822.3(KCNT1):c.760-18C>T
|
|
|
NM_020822.3(KCNT1):c.760-20A>T
|
|
|
NM_020822.3(KCNT1):c.760-4A>C
|
rs2131444316
|
|
NM_020822.3(KCNT1):c.760-4A>G
|
rs2131444316
|
|
NM_020822.3(KCNT1):c.760-9C>T
|
rs1554771446
|
|
NM_020822.3(KCNT1):c.768C>T (p.Phe256=)
|
rs1422265516
|
|
NM_020822.3(KCNT1):c.781C>T (p.Leu261=)
|
rs1588327182
|
|
NM_020822.3(KCNT1):c.784C>A (p.Arg262=)
|
|
|
NM_020822.3(KCNT1):c.816C>T (p.Leu272=)
|
rs764531029
|
|
NM_020822.3(KCNT1):c.825C>T (p.Phe275=)
|
|
|
NM_020822.3(KCNT1):c.852G>T (p.Thr284=)
|
|
|
NM_020822.3(KCNT1):c.854+13C>T
|
|
|
NM_020822.3(KCNT1):c.855-4G>T
|
|
|
NM_020822.3(KCNT1):c.855-7G>A
|
rs768046676
|
|
NM_020822.3(KCNT1):c.864C>T (p.Gly288=)
|
|
|
NM_020822.3(KCNT1):c.880C>A (p.Arg294=)
|
|
|
NM_020822.3(KCNT1):c.895C>T (p.Leu299=)
|
rs2131450994
|
|
NM_020822.3(KCNT1):c.897G>A (p.Leu299=)
|
rs1197592007
|
|
NM_020822.3(KCNT1):c.91G>T (p.Asp31Tyr)
|
rs766377529
|
|
NM_020822.3(KCNT1):c.921C>T (p.Phe307=)
|
rs878855057
|
|
NM_020822.3(KCNT1):c.927C>T (p.Ile309=)
|
|
|
NM_020822.3(KCNT1):c.94G>T (p.Gly32Cys)
|
rs754823810
|
|
NM_020822.3(KCNT1):c.963G>C (p.Thr321=)
|
rs760300415
|
|
NM_020822.3(KCNT1):c.9C>T (p.Leu3=)
|
rs768423949
|
|
NM_021267.5(CERS1):c.*1298G>A
|
rs748808313
|
|
NM_021267.5(CERS1):c.*773G>A
|
rs1415775845
|
|
NM_021267.5(CERS1):c.1011-16C>T
|
rs2145990522
|
|
NM_021267.5(CERS1):c.1011-4C>G
|
|
|
NM_021267.5(CERS1):c.1011-5C>T
|
|
|
NM_021267.5(CERS1):c.1011-8del
|
rs1421634945
|
|
NM_021267.5(CERS1):c.102G>C (p.Ala34=)
|
|
|
NM_021267.5(CERS1):c.1035G>A (p.Val345=)
|
rs749025315
|
|
NM_021267.5(CERS1):c.123C>G (p.Gly41=)
|
rs2146084585
|
|
NM_021267.5(CERS1):c.156C>T (p.His52=)
|
rs2146084390
|
|
NM_021267.5(CERS1):c.15G>T (p.Gly5=)
|
|
|
NM_021267.5(CERS1):c.171G>T (p.Pro57=)
|
rs1165273715
|
|
NM_021267.5(CERS1):c.192G>T (p.Ala64=)
|
|
|
NM_021267.5(CERS1):c.195C>T (p.Leu65=)
|
|
|
NM_021267.5(CERS1):c.198C>G (p.Gly66=)
|
|
|
NM_021267.5(CERS1):c.222C>G (p.Arg74=)
|
rs1601197228
|
|
NM_021267.5(CERS1):c.234T>A (p.Thr78=)
|
|
|
NM_021267.5(CERS1):c.249+14G>T
|
|
|
NM_021267.5(CERS1):c.249+19C>T
|
|
|
NM_021267.5(CERS1):c.249+7G>A
|
|
|
NM_021267.5(CERS1):c.250-15T>C
|
|
|
NM_021267.5(CERS1):c.250-20G>T
|
|
|
NM_021267.5(CERS1):c.250-4A>G
|
|
|
NM_021267.5(CERS1):c.264G>C (p.Arg88=)
|
rs377215717
|
|
NM_021267.5(CERS1):c.288C>T (p.Ala96=)
|
|
|
NM_021267.5(CERS1):c.375C>T (p.Tyr125=)
|
|
|
NM_021267.5(CERS1):c.387T>C (p.His129=)
|
rs2146074202
|
|
NM_021267.5(CERS1):c.39C>G (p.Pro13=)
|
|
|
NM_021267.5(CERS1):c.402C>A (p.Val134=)
|
rs1203214467
|
|
NM_021267.5(CERS1):c.402C>T (p.Val134=)
|
|
|
NM_021267.5(CERS1):c.410-20_410-19del
|
rs753725560
|
|
NM_021267.5(CERS1):c.420G>A (p.Pro140=)
|
|
|
NM_021267.5(CERS1):c.420G>C (p.Pro140=)
|
rs777354771
|
|
NM_021267.5(CERS1):c.429A>C (p.Ala143=)
|
rs200107216
|
|
NM_021267.5(CERS1):c.45C>T (p.Pro15=)
|
rs2146085011
|
|
NM_021267.5(CERS1):c.531G>A (p.Val177=)
|
rs542208205
|
|
NM_021267.5(CERS1):c.534C>G (p.Val178=)
|
rs1601172670
|
|
NM_021267.5(CERS1):c.540G>T (p.Leu180=)
|
rs763116442
|
|
NM_021267.5(CERS1):c.567C>T (p.Leu189=)
|
rs2146032932
|
|
NM_021267.5(CERS1):c.570C>T (p.Ile190=)
|
rs778764321
|
|
NM_021267.5(CERS1):c.579C>T (p.Ser193=)
|
|
|
NM_021267.5(CERS1):c.590+11G>C
|
|
|
NM_021267.5(CERS1):c.590+14C>G
|
|
|
NM_021267.5(CERS1):c.591-10G>T
|
|
|
NM_021267.5(CERS1):c.591-15C>T
|
rs780029381
|
|
NM_021267.5(CERS1):c.591-8T>A
|
|
|
NM_021267.5(CERS1):c.594C>T (p.Tyr198=)
|
|
|
NM_021267.5(CERS1):c.630T>C (p.Asp210=)
|
|
|
NM_021267.5(CERS1):c.66A>C (p.Leu22=)
|
rs1185015299
|
|
NM_021267.5(CERS1):c.702G>A (p.Arg234=)
|
rs2146018471
|
|
NM_021267.5(CERS1):c.717A>G (p.Ala239=)
|
rs2056171735
|
|
NM_021267.5(CERS1):c.750C>T (p.Ser250=)
|
rs2146018260
|
|
NM_021267.5(CERS1):c.753-17G>A
|
|
|
NM_021267.5(CERS1):c.753-18T>G
|
|
|
NM_021267.5(CERS1):c.753-4G>A
|
|
|
NM_021267.5(CERS1):c.780G>T (p.Pro260=)
|
rs765999204
|
|
NM_021267.5(CERS1):c.78C>T (p.Gly26=)
|
|
|
NM_021267.5(CERS1):c.790C>T (p.Leu264=)
|
rs2146013191
|
|
NM_021267.5(CERS1):c.816G>A (p.Leu272=)
|
rs2146013036
|
|
NM_021267.5(CERS1):c.834C>T (p.Ile278=)
|
rs781327266
|
|
NM_021267.5(CERS1):c.840C>T (p.Phe280=)
|
|
|
NM_021267.5(CERS1):c.846C>T (p.Phe282=)
|
|
|
NM_021267.5(CERS1):c.873C>G (p.Leu291=)
|
rs750237588
|
|
NM_021267.5(CERS1):c.876C>G (p.Thr292=)
|
rs1047604923
|
|
NM_021267.5(CERS1):c.900+11C>T
|
|
|
NM_021267.5(CERS1):c.900+13C>T
|
|
|
NM_021267.5(CERS1):c.900+14G>A
|
|
|
NM_021267.5(CERS1):c.900+20C>T
|
rs1296690347
|
|
NM_021267.5(CERS1):c.900+7C>T
|
|
|
NM_021267.5(CERS1):c.901-17C>G
|
|
|
NM_021267.5(CERS1):c.901-8T>C
|
|
|
NM_021267.5(CERS1):c.951G>A (p.Leu317=)
|
|
|
NM_021267.5(CERS1):c.958C>T (p.Leu320=)
|
rs1260273077
|
|
NM_021267.5(CERS1):c.978C>A (p.Ala326=)
|
rs530273200
|
|
NM_021267.5(CERS1):c.978C>T (p.Ala326=)
|
|
|
NM_021267.5(CERS1):c.984C>G (p.Ala328=)
|
|
|
NM_021267.5(CERS1):c.990C>T (p.Ser330=)
|
rs865981359
|
|
NM_021267.5(CERS1):c.996G>A (p.Lys332=)
|
|
|
NM_021267.5(CERS1):c.999C>T (p.Pro333=)
|
rs2146010687
|
|
NM_021267.5(CERS1):c.9G>A (p.Ala3=)
|
rs1310539014
|
|
NM_032737.4(LMNB2):c.1016A>C (p.Glu339Ala)
|
rs778624588
|
|
NM_032737.4(LMNB2):c.1017G>A (p.Glu339=)
|
|
|
NM_032737.4(LMNB2):c.1041C>T (p.Asp347=)
|
rs1366067577
|
|
NM_032737.4(LMNB2):c.10C>T (p.Pro4Ser)
|
rs1345951078
|
|
NM_032737.4(LMNB2):c.1116C>T (p.Ala372=)
|
|
|
NM_032737.4(LMNB2):c.1202+10G>T
|
rs2145448177
|
|
NM_032737.4(LMNB2):c.1203-13G>A
|
|
|
NM_032737.4(LMNB2):c.1203-17_1203-14del
|
rs764080802
|
|
NM_032737.4(LMNB2):c.1231C>T (p.Arg411Cys)
|
rs563283912
|
|
NM_032737.4(LMNB2):c.1233C>A (p.Arg411=)
|
rs910442854
|
|
NM_032737.4(LMNB2):c.1251C>T (p.Ala417=)
|
rs2145447790
|
|
NM_032737.4(LMNB2):c.1266C>T (p.Ser422=)
|
|
|
NM_032737.4(LMNB2):c.1354C>T (p.Leu452=)
|
|
|
NM_032737.4(LMNB2):c.1356G>A (p.Leu452=)
|
|
|
NM_032737.4(LMNB2):c.1365C>G (p.Gly455=)
|
|
|
NM_032737.4(LMNB2):c.1377C>T (p.Ser459=)
|
|
|
NM_032737.4(LMNB2):c.138G>A (p.Glu46=)
|
|
|
NM_032737.4(LMNB2):c.1392G>A (p.Leu464=)
|
|
|
NM_032737.4(LMNB2):c.1404C>G (p.Ala468=)
|
|
|
NM_032737.4(LMNB2):c.1428C>T (p.Ile476=)
|
|
|
NM_032737.4(LMNB2):c.1431G>A (p.Glu477=)
|
rs2145447443
|
|
NM_032737.4(LMNB2):c.1437C>T (p.Ile479=)
|
|
|
NM_032737.4(LMNB2):c.1446G>A (p.Glu482=)
|
|
|
NM_032737.4(LMNB2):c.1476G>A (p.Ser492=)
|
|
|
NM_032737.4(LMNB2):c.1482+19G>A
|
|
|
NM_032737.4(LMNB2):c.1483-7C>T
|
rs2145445603
|
|
NM_032737.4(LMNB2):c.150G>C (p.Leu50=)
|
rs2145479381
|
|
NM_032737.4(LMNB2):c.1527G>A (p.Glu509=)
|
rs1318578743
|
|
NM_032737.4(LMNB2):c.1545C>T (p.Tyr515=)
|
|
|
NM_032737.4(LMNB2):c.1551C>T (p.Phe517=)
|
|
|
NM_032737.4(LMNB2):c.1554G>A (p.Thr518=)
|
|
|
NM_032737.4(LMNB2):c.156G>A (p.Glu52=)
|
|
|
NM_032737.4(LMNB2):c.1572C>T (p.Arg524=)
|
|
|
NM_032737.4(LMNB2):c.1578C>T (p.Gly526=)
|
|
|
NM_032737.4(LMNB2):c.1581G>A (p.Gln527=)
|
|
|
NM_032737.4(LMNB2):c.1582A>C (p.Met528Leu)
|
|
|
NM_032737.4(LMNB2):c.1590G>A (p.Thr530=)
|
|
|
NM_032737.4(LMNB2):c.1591-8G>A
|
|
|
NM_032737.4(LMNB2):c.15C>T (p.Ser5=)
|
rs1599345091
|
|
NM_032737.4(LMNB2):c.1629C>T (p.Pro543=)
|
rs149126950
|
|
NM_032737.4(LMNB2):c.1711-16G>A
|
|
|
NM_032737.4(LMNB2):c.1711-16G>T
|
|
|
NM_032737.4(LMNB2):c.1711-18G>A
|
|
|
NM_032737.4(LMNB2):c.1711-19C>T
|
|
|
NM_032737.4(LMNB2):c.1711-8C>T
|
rs1203062544
|
|
NM_032737.4(LMNB2):c.1740C>T (p.Ser580=)
|
rs2145444255
|
|
NM_032737.4(LMNB2):c.1743G>A (p.Ser581=)
|
|
|
NM_032737.4(LMNB2):c.1749G>T (p.Met583Ile)
|
rs139812127
|
|
NM_032737.4(LMNB2):c.1776G>A (p.Glu592=)
|
rs1555682686
|
|
NM_032737.4(LMNB2):c.180C>T (p.Tyr60=)
|
rs1216160175
|
|
NM_032737.4(LMNB2):c.1821+15C>G
|
|
|
NM_032737.4(LMNB2):c.1821+15C>T
|
|
|
NM_032737.4(LMNB2):c.1821+16C>T
|
|
|
NM_032737.4(LMNB2):c.1821+8C>T
|
|
|
NM_032737.4(LMNB2):c.1822-10C>G
|
|
|
NM_032737.4(LMNB2):c.1822-20TCCT[3]
|
|
|
NM_032737.4(LMNB2):c.1822-20TCCT[5]
|
rs542821471
|
|
NM_032737.4(LMNB2):c.1822-20TCCT[6]
|
rs542821471
|
|
NM_032737.4(LMNB2):c.1830G>T (p.Pro610=)
|
rs748782215
|
|
NM_032737.4(LMNB2):c.18G>C (p.Pro6=)
|
rs1039426985
|
|
NM_032737.4(LMNB2):c.198G>A (p.Ala66=)
|
rs147207457
|
|
NM_032737.4(LMNB2):c.249G>A (p.Glu83=)
|
rs956457110
|
|
NM_032737.4(LMNB2):c.264+9del
|
rs2145479184
|
|
NM_032737.4(LMNB2):c.27T>C (p.Arg9=)
|
|
|
NM_032737.4(LMNB2):c.282G>A (p.Ala94=)
|
rs756740513
|
|
NM_032737.4(LMNB2):c.309C>T (p.Ala103=)
|
rs2145462802
|
|
NM_032737.4(LMNB2):c.348G>A (p.Arg116=)
|
rs1971931244
|
|
NM_032737.4(LMNB2):c.351G>A (p.Leu117=)
|
rs2145462708
|
|
NM_032737.4(LMNB2):c.402C>T (p.Ser134=)
|
rs148213507
|
|
NM_032737.4(LMNB2):c.417G>A (p.Glu139=)
|
|
|
NM_032737.4(LMNB2):c.420C>T (p.Gly140=)
|
|
|
NM_032737.4(LMNB2):c.429G>A (p.Thr143=)
|
rs372873077
|
|
NM_032737.4(LMNB2):c.429G>C (p.Thr143=)
|
rs372873077
|
|
NM_032737.4(LMNB2):c.489G>A (p.Leu163=)
|
|
|
NM_032737.4(LMNB2):c.492A>T (p.Ala164=)
|
rs1216335145
|
|
NM_032737.4(LMNB2):c.555C>T (p.Ala185=)
|
rs1971853188
|
|
NM_032737.4(LMNB2):c.558+20_558+24del
|
rs1971852798
|
|
NM_032737.4(LMNB2):c.559-14C>T
|
|
|
NM_032737.4(LMNB2):c.559-19G>A
|
|
|
NM_032737.4(LMNB2):c.559-5C>G
|
rs748713561
|
|
NM_032737.4(LMNB2):c.559-7C>T
|
rs2145454276
|
|
NM_032737.4(LMNB2):c.580G>C (p.Ala194Pro)
|
rs746027881
|
|
NM_032737.4(LMNB2):c.59C>T (p.Thr20Ile)
|
rs1599345044
|
|
NM_032737.4(LMNB2):c.5G>A (p.Ser2Asn)
|
rs892147530
|
|
NM_032737.4(LMNB2):c.609G>A (p.Leu203=)
|
|
|
NM_032737.4(LMNB2):c.645G>T (p.Leu215=)
|
|
|
NM_032737.4(LMNB2):c.660C>T (p.Asp220=)
|
|
|
NM_032737.4(LMNB2):c.66C>T (p.Ala22=)
|
|
|
NM_032737.4(LMNB2):c.684+10T>C
|
rs780040758
|
|
NM_032737.4(LMNB2):c.684+14C>T
|
|
|
NM_032737.4(LMNB2):c.684+15T>G
|
rs752623930
|
|
NM_032737.4(LMNB2):c.684+20T>C
|
|
|
NM_032737.4(LMNB2):c.685-18C>T
|
|
|
NM_032737.4(LMNB2):c.685-8G>A
|
rs1284688903
|
|
NM_032737.4(LMNB2):c.696G>A (p.Glu232=)
|
rs1971807450
|
|
NM_032737.4(LMNB2):c.69G>A (p.Thr23=)
|
rs2145479496
|
|
NM_032737.4(LMNB2):c.6C>T (p.Ser2=)
|
rs1972098826
|
|
NM_032737.4(LMNB2):c.726G>A (p.Val242=)
|
rs2145449438
|
|
NM_032737.4(LMNB2):c.738C>T (p.Ser246=)
|
rs1971806243
|
|
NM_032737.4(LMNB2):c.798G>A (p.Gln266=)
|
|
|
NM_032737.4(LMNB2):c.801C>T (p.His267=)
|
|
|
NM_032737.4(LMNB2):c.819C>T (p.Leu273=)
|
rs1971804535
|
|
NM_032737.4(LMNB2):c.843C>T (p.Thr281=)
|
rs1043055908
|
|
NM_032737.4(LMNB2):c.855+14G>A
|
rs1971803815
|
|
NM_032737.4(LMNB2):c.855+16G>A
|
rs368113823
|
|
NM_032737.4(LMNB2):c.855+9G>T
|
rs772053278
|
|
NM_032737.4(LMNB2):c.856-12G>A
|
|
|
NM_032737.4(LMNB2):c.856-8C>T
|
rs766316644
|
|
NM_032737.4(LMNB2):c.912C>T (p.Arg304=)
|
|
|
NM_032737.4(LMNB2):c.942G>A (p.Leu314=)
|
rs2145448846
|
|
NM_032737.4(LMNB2):c.981+14C>A
|
|
|
NM_032737.4(LMNB2):c.982-15C>A
|
|
|
NM_032737.4(LMNB2):c.982-4G>C
|
rs370025312
|
|
NM_032737.4(LMNB2):c.982-8C>T
|
rs767292574
|
|
NM_032737.4(LMNB2):c.982-9C>T
|
rs752206684
|
|
NM_153026.3(PRICKLE1):c.1029A>C (p.Ala343=)
|
|
|
NM_153026.3(PRICKLE1):c.1035G>A (p.Gln345=)
|
|
|
NM_153026.3(PRICKLE1):c.1050C>T (p.Leu350=)
|
|
|
NM_153026.3(PRICKLE1):c.108C>G (p.Val36=)
|
rs147268650
|
|
NM_153026.3(PRICKLE1):c.1092A>G (p.Ser364=)
|
rs2140101756
|
|
NM_153026.3(PRICKLE1):c.1095C>A (p.Gly365=)
|
|
|
NM_153026.3(PRICKLE1):c.1230T>C (p.Asp410=)
|
rs2140101257
|
|
NM_153026.3(PRICKLE1):c.1242T>C (p.Tyr414=)
|
rs2140101201
|
|
NM_153026.3(PRICKLE1):c.1260C>T (p.Leu420=)
|
|
|
NM_153026.3(PRICKLE1):c.1281C>T (p.Leu427=)
|
|
|
NM_153026.3(PRICKLE1):c.1311T>C (p.Ile437=)
|
rs1938016409
|
|
NM_153026.3(PRICKLE1):c.132+18C>T
|
|
|
NM_153026.3(PRICKLE1):c.132+20A>G
|
|
|
NM_153026.3(PRICKLE1):c.132+20del
|
|
|
NM_153026.3(PRICKLE1):c.1323G>A (p.Glu441=)
|
|
|
NM_153026.3(PRICKLE1):c.133-5del
|
rs1009731020
|
|
NM_153026.3(PRICKLE1):c.133-7_133-5del
|
rs1009731020
|
|
NM_153026.3(PRICKLE1):c.133-9C>G
|
|
|
NM_153026.3(PRICKLE1):c.1362G>A (p.Glu454=)
|
|
|
NM_153026.3(PRICKLE1):c.1404G>A (p.Gln468=)
|
|
|
NM_153026.3(PRICKLE1):c.1440G>C (p.Leu480=)
|
rs367822804
|
|
NM_153026.3(PRICKLE1):c.1470C>A (p.Gly490=)
|
rs1213762995
|
|
NM_153026.3(PRICKLE1):c.1533T>C (p.His511=)
|
rs1937999651
|
|
NM_153026.3(PRICKLE1):c.1557T>C (p.Asp519=)
|
|
|
NM_153026.3(PRICKLE1):c.1563G>A (p.Leu521=)
|
rs758126980
|
|
NM_153026.3(PRICKLE1):c.156A>G (p.Leu52=)
|
|
|
NM_153026.3(PRICKLE1):c.1596T>C (p.Ser532=)
|
rs1937997691
|
|
NM_153026.3(PRICKLE1):c.1600C>A (p.Arg534=)
|
rs936545109
|
|
NM_153026.3(PRICKLE1):c.1608G>T (p.Ser536=)
|
|
|
NM_153026.3(PRICKLE1):c.1623A>T (p.Ala541=)
|
rs776141626
|
|
NM_153026.3(PRICKLE1):c.1629C>A (p.Ser543=)
|
rs748556304
|
|
NM_153026.3(PRICKLE1):c.1639+3A>G
|
rs550752320
|
|
NM_153026.3(PRICKLE1):c.1639+8_1639+20del
|
rs1488350369
|
|
NM_153026.3(PRICKLE1):c.1640-12C>T
|
|
|
NM_153026.3(PRICKLE1):c.1640-20T>A
|
rs2140088702
|
|
NM_153026.3(PRICKLE1):c.1640-9C>G
|
|
|
NM_153026.3(PRICKLE1):c.1653T>C (p.Asp551=)
|
|
|
NM_153026.3(PRICKLE1):c.1678T>C (p.Leu560=)
|
|
|
NM_153026.3(PRICKLE1):c.1686T>G (p.Ser562=)
|
rs955717976
|
|
NM_153026.3(PRICKLE1):c.174T>G (p.Pro58=)
|
|
|
NM_153026.3(PRICKLE1):c.1800A>G (p.Ser600=)
|
|
|
NM_153026.3(PRICKLE1):c.1824G>T (p.Leu608=)
|
|
|
NM_153026.3(PRICKLE1):c.1851A>T (p.Pro617=)
|
rs2140087611
|
|
NM_153026.3(PRICKLE1):c.1866C>G (p.Ser622=)
|
|
|
NM_153026.3(PRICKLE1):c.1875A>G (p.Gln625=)
|
|
|
NM_153026.3(PRICKLE1):c.1879A>C (p.Arg627=)
|
|
|
NM_153026.3(PRICKLE1):c.1884C>G (p.Pro628=)
|
|
|
NM_153026.3(PRICKLE1):c.1908T>C (p.Asp636=)
|
rs2140087363
|
|
NM_153026.3(PRICKLE1):c.1944G>A (p.Arg648=)
|
rs2140087181
|
|
NM_153026.3(PRICKLE1):c.1971G>A (p.Arg657=)
|
rs2140086977
|
|
NM_153026.3(PRICKLE1):c.1989T>C (p.Phe663=)
|
rs1555229340
|
|
NM_153026.3(PRICKLE1):c.2029A>C (p.Arg677=)
|
rs2140086570
|
|
NM_153026.3(PRICKLE1):c.202C>A (p.Arg68=)
|
rs1305368228
|
|
NM_153026.3(PRICKLE1):c.2091C>G (p.Pro697=)
|
|
|
NM_153026.3(PRICKLE1):c.2109G>C (p.Leu703=)
|
rs955109457
|
|
NM_153026.3(PRICKLE1):c.2115C>T (p.Thr705=)
|
|
|
NM_153026.3(PRICKLE1):c.2118C>T (p.Pro706=)
|
|
|
NM_153026.3(PRICKLE1):c.2160G>A (p.Glu720=)
|
rs1593099876
|
|
NM_153026.3(PRICKLE1):c.2229G>A (p.Leu743=)
|
rs2140085472
|
|
NM_153026.3(PRICKLE1):c.234A>C (p.Pro78=)
|
|
|
NM_153026.3(PRICKLE1):c.2382T>C (p.Tyr794=)
|
rs538043977
|
|
NM_153026.3(PRICKLE1):c.2388T>C (p.Asp796=)
|
rs778528977
|
|
NM_153026.3(PRICKLE1):c.2403A>T (p.Pro801=)
|
rs1434346670
|
|
NM_153026.3(PRICKLE1):c.2406A>G (p.Pro802=)
|
|
|
NM_153026.3(PRICKLE1):c.2406A>T (p.Pro802=)
|
|
|
NM_153026.3(PRICKLE1):c.246+20G>T
|
|
|
NM_153026.3(PRICKLE1):c.2475C>G (p.Gly825=)
|
rs1593099130
|
|
NM_153026.3(PRICKLE1):c.327G>A (p.Leu109=)
|
|
|
NM_153026.3(PRICKLE1):c.372T>C (p.Ala124=)
|
rs2140116274
|
|
NM_153026.3(PRICKLE1):c.384+11C>T
|
|
|
NM_153026.3(PRICKLE1):c.385-7T>C
|
rs2140114516
|
|
NM_153026.3(PRICKLE1):c.391T>C (p.Leu131=)
|
|
|
NM_153026.3(PRICKLE1):c.444T>G (p.Gly148=)
|
rs1060504780
|
|
NM_153026.3(PRICKLE1):c.489G>A (p.Glu163=)
|
rs2140113843
|
|
NM_153026.3(PRICKLE1):c.498C>G (p.Val166=)
|
rs1555230606
|
|
NM_153026.3(PRICKLE1):c.51G>A (p.Gln17=)
|
|
|
NM_153026.3(PRICKLE1):c.522T>C (p.Asp174=)
|
rs2140113680
|
|
NM_153026.3(PRICKLE1):c.588+10del
|
rs766626651
|
|
NM_153026.3(PRICKLE1):c.588+11G>C
|
rs1566084330
|
|
NM_153026.3(PRICKLE1):c.588+17C>T
|
|
|
NM_153026.3(PRICKLE1):c.588+8A>G
|
rs1413160382
|
|
NM_153026.3(PRICKLE1):c.589-9T>G
|
rs2140106433
|
|
NM_153026.3(PRICKLE1):c.673C>T (p.Leu225=)
|
|
|
NM_153026.3(PRICKLE1):c.775+9_775+18del
|
rs769446547
|
|
NM_153026.3(PRICKLE1):c.776-14C>T
|
rs527292011
|
|
NM_153026.3(PRICKLE1):c.864G>A (p.Leu288=)
|
rs1481944717
|
|
NM_153026.3(PRICKLE1):c.88T>C (p.Leu30=)
|
rs2140124993
|
|
NM_153026.3(PRICKLE1):c.936C>T (p.Val312=)
|
rs2140102485
|
|
NM_153026.3(PRICKLE1):c.954C>T (p.Ser318=)
|
rs139421676
|
|
NM_153026.3(PRICKLE1):c.991C>A (p.Arg331=)
|
|
|
NM_153033.4:c.315-?_*3997+?dup
|
|
|
NM_153033.5(KCTD7):c.102G>A (p.Thr34=)
|
|
|
NM_153033.5(KCTD7):c.111G>A (p.Gln37=)
|
rs1786383344
|
|
NM_153033.5(KCTD7):c.117G>A (p.Gly39=)
|
rs2116755633
|
|
NM_153033.5(KCTD7):c.123G>T (p.Ala41=)
|
rs2116755653
|
|
NM_153033.5(KCTD7):c.129C>T (p.Pro43=)
|
|
|
NM_153033.5(KCTD7):c.12C>G (p.Val4=)
|
|
|
NM_153033.5(KCTD7):c.144+15G>A
|
|
|
NM_153033.5(KCTD7):c.144+18G>A
|
|
|
NM_153033.5(KCTD7):c.144+21_144+27dup
|
|
|
NM_153033.5(KCTD7):c.144+7G>A
|
|
|
NM_153033.5(KCTD7):c.144+8G>A
|
|
|
NM_153033.5(KCTD7):c.144+8GGCGGGC[3]
|
|
|
NM_153033.5(KCTD7):c.144+9del
|
rs1320825927
|
|
NM_153033.5(KCTD7):c.145-17T>A
|
rs2116763618
|
|
NM_153033.5(KCTD7):c.145-19C>G
|
|
|
NM_153033.5(KCTD7):c.145-19C>T
|
|
|
NM_153033.5(KCTD7):c.145-5del
|
|
|
NM_153033.5(KCTD7):c.145-6T>C
|
|
|
NM_153033.5(KCTD7):c.177G>T (p.Gly59=)
|
|
|
NM_153033.5(KCTD7):c.204A>C (p.Thr68=)
|
rs777859099
|
|
NM_153033.5(KCTD7):c.205C>T (p.Leu69=)
|
|
|
NM_153033.5(KCTD7):c.252G>A (p.Arg84=)
|
|
|
NM_153033.5(KCTD7):c.270C>T (p.Asp90=)
|
rs746002015
|
|
NM_153033.5(KCTD7):c.279C>T (p.Gly93=)
|
|
|
NM_153033.5(KCTD7):c.285C>T (p.Tyr95=)
|
rs1584395905
|
|
NM_153033.5(KCTD7):c.291C>T (p.Ile97=)
|
rs769023482
|
|
NM_153033.5(KCTD7):c.295C>A (p.Arg99=)
|
|
|
NM_153033.5(KCTD7):c.314+13C>T
|
rs1786503027
|
|
NM_153033.5(KCTD7):c.314+19A>C
|
|
|
NM_153033.5(KCTD7):c.315-15T>C
|
|
|
NM_153033.5(KCTD7):c.315-17C>T
|
|
|
NM_153033.5(KCTD7):c.315-32_315-17del
|
rs758037249
|
|
NM_153033.5(KCTD7):c.315-4T>A
|
|
|
NM_153033.5(KCTD7):c.315-4T>C
|
rs932417352
|
|
NM_153033.5(KCTD7):c.315-5C>G
|
|
|
NM_153033.5(KCTD7):c.315-8C>G
|
|
|
NM_153033.5(KCTD7):c.315-9C>T
|
rs746772828
|
|
NM_153033.5(KCTD7):c.330C>T (p.Phe110=)
|
|
|
NM_153033.5(KCTD7):c.339A>G (p.Ser113=)
|
|
|
NM_153033.5(KCTD7):c.345C>T (p.Asp115=)
|
|
|
NM_153033.5(KCTD7):c.351A>G (p.Pro117=)
|
|
|
NM_153033.5(KCTD7):c.363T>C (p.Arg121=)
|
|
|
NM_153033.5(KCTD7):c.393C>T (p.Tyr131=)
|
rs2116773941
|
|
NM_153033.5(KCTD7):c.402C>A (p.Ile134=)
|
|
|
NM_153033.5(KCTD7):c.405G>C (p.Gly135=)
|
rs555039386
|
|
NM_153033.5(KCTD7):c.414G>A (p.Leu138=)
|
rs1786634017
|
|
NM_153033.5(KCTD7):c.417G>A (p.Glu139=)
|
rs1554300872
|
|
NM_153033.5(KCTD7):c.465G>A (p.Ala155=)
|
rs773209661
|
|
NM_153033.5(KCTD7):c.489C>T (p.Tyr163=)
|
rs1057521582
|
|
NM_153033.5(KCTD7):c.493+16C>T
|
|
|
NM_153033.5(KCTD7):c.494-19G>A
|
|
|
NM_153033.5(KCTD7):c.494-5T>C
|
rs2116774978
|
|
NM_153033.5(KCTD7):c.494-7C>T
|
rs768234025
|
|
NM_153033.5(KCTD7):c.51C>T (p.Ala17=)
|
rs1584392789
|
|
NM_153033.5(KCTD7):c.528G>C (p.Leu176=)
|
|
|
NM_153033.5(KCTD7):c.549C>G (p.Ala183=)
|
rs1786648622
|
|
NM_153033.5(KCTD7):c.564C>G (p.Leu188=)
|
|
|
NM_153033.5(KCTD7):c.594C>G (p.Pro198=)
|
rs749192199
|
|
NM_153033.5(KCTD7):c.612T>C (p.Cys204=)
|
|
|
NM_153033.5(KCTD7):c.618C>G (p.Leu206=)
|
|
|
NM_153033.5(KCTD7):c.639G>A (p.Glu213=)
|
|
|
NM_153033.5(KCTD7):c.63T>C (p.Ser21=)
|
rs756855275
|
|
NM_153033.5(KCTD7):c.642G>C (p.Arg214=)
|
|
|
NM_153033.5(KCTD7):c.699G>A (p.Gly233=)
|
|
|
NM_153033.5(KCTD7):c.69C>G (p.Ala23=)
|
rs1584392832
|
|
NM_153033.5(KCTD7):c.714G>A (p.Val238=)
|
|
|
NM_153033.5(KCTD7):c.730C>T (p.Leu244=)
|
rs1241868814
|
|
NM_153033.5(KCTD7):c.750G>C (p.Thr250=)
|
rs374256335
|
|
NM_153033.5(KCTD7):c.759G>T (p.Ser253=)
|
|
|
NM_153033.5(KCTD7):c.786G>A (p.Gln262=)
|
rs1584399843
|
|
NM_153033.5(KCTD7):c.810C>T (p.His270=)
|
rs2116775769
|
|
NM_153033.5(KCTD7):c.82C>T (p.Leu28=)
|
rs2116755532
|
|
NM_153033.5(KCTD7):c.834G>A (p.Lys278=)
|
rs746774522
|
|
NM_153033.5(KCTD7):c.9A>G (p.Val3=)
|
|
|
NM_178013.4(PRIMA1):c.120C>T (p.Ser40=)
|
rs1331581624
|
|
NM_178013.4(PRIMA1):c.16T>C (p.Leu6=)
|
|
|
NM_178013.4(PRIMA1):c.171T>A (p.Pro57=)
|
rs766425104
|
|
NM_178013.4(PRIMA1):c.177G>A (p.Pro59=)
|
|
|
NM_178013.4(PRIMA1):c.189G>T (p.Pro63=)
|
|
|
NM_178013.4(PRIMA1):c.18G>A (p.Leu6=)
|
|
|
NM_178013.4(PRIMA1):c.192C>A (p.Pro64=)
|
|
|
NM_178013.4(PRIMA1):c.229+11G>A
|
|
|
NM_178013.4(PRIMA1):c.230-14_230-12del
|
|
|
NM_178013.4(PRIMA1):c.24G>A (p.Leu8=)
|
|
|
NM_178013.4(PRIMA1):c.279G>A (p.Leu93=)
|
|
|
NM_178013.4(PRIMA1):c.285C>T (p.Ile95=)
|
|
|
NM_178013.4(PRIMA1):c.300C>T (p.Cys100=)
|
rs776257256
|
|
NM_178013.4(PRIMA1):c.315G>A (p.Val105=)
|
rs369364290
|
|
NM_178013.4(PRIMA1):c.351C>T (p.Ala117=)
|
|
|
NM_178013.4(PRIMA1):c.359+12C>G
|
|
|
NM_178013.4(PRIMA1):c.359+6_359+7insA
|
|
|
NM_178013.4(PRIMA1):c.360-10C>T
|
rs775309387
|
|
NM_178013.4(PRIMA1):c.360-12C>G
|
|
|
NM_178013.4(PRIMA1):c.360-12C>T
|
|
|
NM_178013.4(PRIMA1):c.360-14C>A
|
rs1308705065
|
|
NM_178013.4(PRIMA1):c.360-17C>T
|
|
|
NM_178013.4(PRIMA1):c.360-9C>A
|
rs747126450
|
|
NM_178013.4(PRIMA1):c.360-9C>T
|
|
|
NM_178013.4(PRIMA1):c.366A>G (p.Pro122=)
|
rs566982848
|
|
NM_178013.4(PRIMA1):c.387C>T (p.Gly129=)
|
|
|
NM_178013.4(PRIMA1):c.408C>G (p.Pro136=)
|
|
|
NM_178013.4(PRIMA1):c.441C>T (p.Asp147=)
|
|
|
NM_178013.4(PRIMA1):c.444G>A (p.Val148=)
|
rs2141146936
|
|
NM_178013.4(PRIMA1):c.48G>C (p.Ser16=)
|
|
|
NM_178013.4(PRIMA1):c.51G>T (p.Leu17=)
|
|
|
NM_178013.4(PRIMA1):c.54G>A (p.Leu18=)
|
|
|
NM_178013.4(PRIMA1):c.90G>T (p.Val30=)
|
|
|
NM_178013.4(PRIMA1):c.93+20C>A
|
|
|
NM_178013.4(PRIMA1):c.93+7C>A
|
|
|
NM_178013.4(PRIMA1):c.93+7C>T
|
rs1282797760
|
|
NM_178013.4(PRIMA1):c.93+8G>C
|
|
|
NM_178013.4(PRIMA1):c.94-19C>T
|
|
|
NM_178013.4(PRIMA1):c.94-20A>G
|
|
|
NM_178013.4(PRIMA1):c.94-6G>A
|
|
|
NM_178013.4(PRIMA1):c.94-8G>A
|
rs201892352
|
|
NM_178013.4(PRIMA1):c.99G>C (p.Thr33=)
|
rs4900195
|
|
NM_178013.4(PRIMA1):c.99G>T (p.Thr33=)
|
rs4900195
|
|
NM_198586.3(NHLRC1):c.1036T>C (p.Leu346=)
|
rs2150702721
|
|
NM_198586.3(NHLRC1):c.1065G>C (p.Pro355=)
|
rs752799460
|
|
NM_198586.3(NHLRC1):c.108G>A (p.Arg36=)
|
rs903344687
|
|
NM_198586.3(NHLRC1):c.1185G>A (p.Gly395=)
|
rs760726977
|
|
NM_198586.3(NHLRC1):c.123G>A (p.Pro41=)
|
rs1161024300
|
|
NM_198586.3(NHLRC1):c.123G>C (p.Pro41=)
|
rs1161024300
|
|
NM_198586.3(NHLRC1):c.126C>T (p.Arg42=)
|
|
|
NM_198586.3(NHLRC1):c.129C>T (p.Asn43=)
|
rs1438368642
|
|
NM_198586.3(NHLRC1):c.135C>G (p.Ser45=)
|
rs2150703342
|
|
NM_198586.3(NHLRC1):c.138C>T (p.Cys46=)
|
rs1489142985
|
|
NM_198586.3(NHLRC1):c.147G>A (p.Val49=)
|
|
|
NM_198586.3(NHLRC1):c.150C>T (p.Val50=)
|
|
|
NM_198586.3(NHLRC1):c.171C>T (p.Ala57=)
|
rs2150703320
|
|
NM_198586.3(NHLRC1):c.195C>A (p.Ala65=)
|
rs370573413
|
|
NM_198586.3(NHLRC1):c.195C>T (p.Ala65=)
|
rs370573413
|
|
NM_198586.3(NHLRC1):c.228G>T (p.Arg76=)
|
rs1409114977
|
|
NM_198586.3(NHLRC1):c.234C>T (p.Cys78=)
|
rs755232826
|
|
NM_198586.3(NHLRC1):c.243C>T (p.Ser81=)
|
rs1174745955
|
|
NM_198586.3(NHLRC1):c.276C>G (p.Leu92=)
|
rs1203128687
|
|
NM_198586.3(NHLRC1):c.303G>A (p.Pro101=)
|
rs187783545
|
|
NM_198586.3(NHLRC1):c.318C>T (p.Ala106=)
|
rs2150703205
|
|
NM_198586.3(NHLRC1):c.321C>T (p.Ala107=)
|
rs772440533
|
|
NM_198586.3(NHLRC1):c.336A>G (p.Gly112=)
|
|
|
NM_198586.3(NHLRC1):c.354C>T (p.His118=)
|
rs2150703182
|
|
NM_198586.3(NHLRC1):c.360C>T (p.Phe120=)
|
rs754279385
|
|
NM_198586.3(NHLRC1):c.372G>A (p.Gly124=)
|
|
|
NM_198586.3(NHLRC1):c.372G>C (p.Gly124=)
|
|
|
NM_198586.3(NHLRC1):c.378G>C (p.Leu126=)
|
|
|
NM_198586.3(NHLRC1):c.399G>T (p.Ala133=)
|
rs1382326927
|
|
NM_198586.3(NHLRC1):c.414G>C (p.Thr138=)
|
|
|
NM_198586.3(NHLRC1):c.423C>G (p.Val141=)
|
|
|
NM_198586.3(NHLRC1):c.45C>A (p.Leu15=)
|
rs770992577
|
|
NM_198586.3(NHLRC1):c.483G>A (p.Ala161=)
|
rs1783746446
|
|
NM_198586.3(NHLRC1):c.507C>T (p.Asp169=)
|
|
|
NM_198586.3(NHLRC1):c.525G>A (p.Arg175=)
|
rs1414840416
|
|
NM_198586.3(NHLRC1):c.618G>A (p.Gln206=)
|
rs747084695
|
|
NM_198586.3(NHLRC1):c.630C>A (p.Val210=)
|
rs2150702986
|
|
NM_198586.3(NHLRC1):c.69G>A (p.Leu23=)
|
rs1170288661
|
|
NM_198586.3(NHLRC1):c.702G>A (p.Ala234=)
|
|
|
NM_198586.3(NHLRC1):c.705G>A (p.Glu235=)
|
rs1783741826
|
|
NM_198586.3(NHLRC1):c.711G>T (p.Gly237=)
|
|
|
NM_198586.3(NHLRC1):c.738C>T (p.Phe246=)
|
rs1561881781
|
|
NM_198586.3(NHLRC1):c.747G>A (p.Gly249=)
|
rs1582029822
|
|
NM_198586.3(NHLRC1):c.756G>A (p.Arg252=)
|
rs2150702898
|
|
NM_198586.3(NHLRC1):c.757A>C (p.Arg253=)
|
|
|
NM_198586.3(NHLRC1):c.807G>A (p.Val269=)
|
|
|
NM_198586.3(NHLRC1):c.831G>A (p.Ala277=)
|
|
|
NM_198586.3(NHLRC1):c.831G>C (p.Ala277=)
|
rs556216487
|
|
NM_198586.3(NHLRC1):c.831G>T (p.Ala277=)
|
rs556216487
|
|
NM_198586.3(NHLRC1):c.837G>A (p.Leu279=)
|
|
|
NM_198586.3(NHLRC1):c.969C>A (p.Ser323=)
|
|
|
NM_198586.3(NHLRC1):c.9C>G (p.Ala3=)
|
|
|