NM_000742.3(CHRNA2):c.-578A>G
|
rs3138834
|
0.05486
|
NM_000742.4(CHRNA2):c.-565T>A
|
rs879442926
|
0.04553
|
NM_018100.4(EFHC1):c.*1024C>T
|
rs372975445
|
0.03953
|
NM_000100.3(CSTB):c.*355C>G
|
rs143062585
|
0.00808
|
NM_004287.5(GOSR2):c.*1377G>A
|
rs180777362
|
0.00573
|
NM_198859.4(PRICKLE2):c.*3864T>C
|
rs544825776
|
0.00560
|
NM_153033.5(KCTD7):c.*3238G>A
|
rs144828027
|
0.00504
|
NM_018100.3(EFHC1):c.-162C>T
|
rs41273738
|
0.00472
|
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val)
|
rs73740379
|
0.00408
|
NM_018100.4(EFHC1):c.*896C>T
|
rs112311115
|
0.00399
|
NM_198859.4(PRICKLE2):c.-370G>A
|
rs139238137
|
0.00356
|
NM_000726.5(CACNB4):c.*624A>T
|
rs755272601
|
0.00332
|
NM_198904.4(GABRG2):c.*348A>G
|
rs192973258
|
0.00328
|
NM_000726.5(CACNB4):c.*5022A>G
|
rs548177540
|
0.00298
|
NM_001161352.2(KCNMA1):c.*394C>A
|
rs41281550
|
0.00287
|
NM_004287.5(GOSR2):c.*1679A>G
|
rs149765350
|
0.00273
|
NM_198859.4(PRICKLE2):c.-562G>A
|
rs113321925
|
0.00266
|
NM_018100.4(EFHC1):c.887G>A (p.Arg296His)
|
rs115205076
|
0.00261
|
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg)
|
rs61738009
|
0.00239
|
NM_198859.4(PRICKLE2):c.*560T>A
|
rs528463950
|
0.00238
|
NM_004287.5(GOSR2):c.40G>A (p.Glu14Lys)
|
rs113817924
|
0.00232
|
NM_198859.4(PRICKLE2):c.-482A>G
|
rs143342419
|
0.00219
|
NM_198586.3(NHLRC1):c.*332G>T
|
rs140122442
|
0.00201
|
NM_018100.4(EFHC1):c.*1876T>G
|
rs148070071
|
0.00194
|
NM_001122752.2(SERPINI1):c.*197T>C
|
rs532826558
|
0.00181
|
NM_004287.5(GOSR2):c.*2057C>T
|
rs368549324
|
0.00180
|
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val)
|
rs144215383
|
0.00178
|
NM_153033.5(KCTD7):c.384G>A (p.Glu128=)
|
rs145238250
|
0.00148
|
NM_153033.5(KCTD7):c.*557A>T
|
rs560766108
|
0.00147
|
NM_198586.3(NHLRC1):c.*326C>T
|
rs369668171
|
0.00144
|
NM_001161352.2(KCNMA1):c.1056C>T (p.Thr352=)
|
rs75207686
|
0.00142
|
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu)
|
rs35993949
|
0.00121
|
NM_198859.4(PRICKLE2):c.457G>A (p.Val153Ile)
|
rs139747674
|
0.00120
|
NM_005097.4(LGI1):c.345A>G (p.Pro115=)
|
rs151104648
|
0.00113
|
NM_018100.4(EFHC1):c.*99T>A
|
rs151292895
|
0.00110
|
NM_153033.5(KCTD7):c.*2009A>G
|
rs184129807
|
0.00105
|
NM_001161352.2(KCNMA1):c.*2325T>A
|
rs41281548
|
0.00103
|
NM_005097.4(LGI1):c.*180G>A
|
rs544656851
|
0.00103
|
NM_000100.4(CSTB):c.121G>A (p.Val41Met)
|
rs143153487
|
0.00101
|
NM_000726.5(CACNB4):c.*737C>T
|
rs558590558
|
0.00096
|
NM_198859.4(PRICKLE2):c.*4994C>T
|
rs190966782
|
0.00089
|
NM_005097.4(LGI1):c.-168G>A
|
rs879390887
|
0.00081
|
NM_005097.4(LGI1):c.1A>G (p.Met1Val)
|
rs202204627
|
0.00080
|
NM_001134407.3(GRIN2A):c.*4229G>T
|
rs780459382
|
0.00073
|
NM_198586.3(NHLRC1):c.*442G>C
|
rs555214908
|
0.00069
|
NM_153033.4(KCTD7):c.*3826G>C
|
rs182211775
|
0.00068
|
NM_001161352.2(KCNMA1):c.*1284T>C
|
rs200045921
|
0.00066
|
NM_198904.4(GABRG2):c.-104T>G
|
rs886060380
|
0.00066
|
NM_000742.4(CHRNA2):c.*1603C>A
|
rs535057169
|
0.00064
|
NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His)
|
rs202170644
|
0.00064
|
NM_001134407.3(GRIN2A):c.*6661G>A
|
rs185399319
|
0.00063
|
NM_018100.4(EFHC1):c.64-5T>C
|
rs201860746
|
0.00063
|
NM_198859.4(PRICKLE2):c.*3632T>C
|
rs140681630
|
0.00063
|
NM_000100.3(CSTB):c.*435G>A
|
rs149039598
|
0.00061
|
NM_018100.4(EFHC1):c.90G>A (p.Thr30=)
|
rs140429638
|
0.00059
|
NM_198859.4(PRICKLE2):c.*4472G>T
|
rs575410668
|
0.00059
|
NM_001134407.3(GRIN2A):c.*525G>A
|
rs11575877
|
0.00058
|
NM_153033.5(KCTD7):c.*1978A>T
|
rs537471141
|
0.00058
|
NM_020361.5(CPA6):c.932G>A (p.Arg311Gln)
|
rs143321447
|
0.00057
|
NM_153033.5(KCTD7):c.*2988A>G
|
rs118004760
|
0.00057
|
NM_004287.5(GOSR2):c.*2336A>T
|
rs569751775
|
0.00055
|
NM_001161352.2(KCNMA1):c.3147+15T>C
|
rs145048715
|
0.00053
|
NM_004287.5(GOSR2):c.*1703A>G
|
rs144662292
|
0.00053
|
NM_004287.5(GOSR2):c.148C>T (p.Arg50Cys)
|
rs143754727
|
0.00052
|
NM_020361.5(CPA6):c.759G>A (p.Trp253Ter)
|
rs139178030
|
0.00052
|
NM_000100.3(CSTB):c.*319G>A
|
rs536069557
|
0.00050
|
NM_018100.4(EFHC1):c.*527C>T
|
rs540732861
|
0.00050
|
NM_198859.4(PRICKLE2):c.*2290T>C
|
rs192971326
|
0.00048
|
NM_198859.4(PRICKLE2):c.-258C>T
|
rs1044268884
|
0.00048
|
NM_001161352.2(KCNMA1):c.89A>G (p.His30Arg)
|
rs200474297
|
0.00044
|
NM_005097.4(LGI1):c.717A>C (p.Ile239=)
|
rs146425212
|
0.00043
|
NM_001161352.2(KCNMA1):c.2547C>T (p.Asp849=)
|
rs147369374
|
0.00041
|
NM_020361.5(CPA6):c.*132C>T
|
rs193137313
|
0.00041
|
NM_000726.5(CACNB4):c.*592T>C
|
rs779110885
|
0.00039
|
NM_153033.5(KCTD7):c.-69C>T
|
rs536230559
|
0.00038
|
NM_198904.4(GABRG2):c.*1427C>T
|
rs375013278
|
0.00037
|
NM_001134407.3(GRIN2A):c.*3603C>T
|
rs760535393
|
0.00036
|
NM_153033.5(KCTD7):c.*1587C>T
|
rs190087991
|
0.00036
|
NM_198859.4(PRICKLE2):c.*1868G>C
|
rs886058791
|
0.00036
|
NM_198904.4(GABRG2):c.*296G>T
|
rs1025917717
|
0.00035
|
NM_001134407.3(GRIN2A):c.*7898A>G
|
rs530398129
|
0.00034
|
NM_004287.5(GOSR2):c.*2192T>G
|
rs545130658
|
0.00034
|
NM_153033.5(KCTD7):c.273C>T (p.Ser91=)
|
rs139585796
|
0.00034
|
NM_198859.4(PRICKLE2):c.*3830T>C
|
rs574878914
|
0.00032
|
NM_198904.4(GABRG2):c.*247T>C
|
rs371389067
|
0.00032
|
NM_001134407.3(GRIN2A):c.*3018G>C
|
rs562770874
|
0.00031
|
NM_020361.5(CPA6):c.-11_-10del
|
rs531326049
|
0.00031
|
NM_001161352.2(KCNMA1):c.3150G>A (p.Thr1050=)
|
rs75116272
|
0.00030
|
NM_001134407.3(GRIN2A):c.*1422A>T
|
rs1011236743
|
0.00029
|
NM_001134407.3(GRIN2A):c.*2509G>A
|
rs530124672
|
0.00029
|
NM_001161352.2(KCNMA1):c.*115C>A
|
rs557364455
|
0.00029
|
NM_004287.5(GOSR2):c.29+8C>T
|
rs573306680
|
0.00029
|
NM_018100.4(EFHC1):c.*1576C>A
|
rs547537212
|
0.00029
|
NM_020361.5(CPA6):c.326T>C (p.Ile109Thr)
|
rs151119622
|
0.00029
|
NM_198859.4(PRICKLE2):c.*3755A>G
|
rs756531877
|
0.00029
|
NM_001134407.3(GRIN2A):c.*539T>C
|
rs748101743
|
0.00027
|
NM_000726.5(CACNB4):c.*1952C>A
|
rs764877003
|
0.00026
|
NM_001134407.3(GRIN2A):c.*2544C>T
|
rs766920527
|
0.00026
|
NM_001134407.3(GRIN2A):c.*5195A>C
|
rs376857000
|
0.00026
|
NM_001134407.3(GRIN2A):c.*5423T>C
|
rs570847684
|
0.00026
|
NM_001161352.2(KCNMA1):c.*1006G>A
|
rs200955430
|
0.00026
|
NM_005097.4(LGI1):c.1155A>C (p.Leu385=)
|
rs202148793
|
0.00026
|
NM_198859.4(PRICKLE2):c.*3116C>T
|
rs1045343958
|
0.00026
|
NM_198904.4(GABRG2):c.*422C>T
|
rs752382943
|
0.00026
|
NM_000742.4(CHRNA2):c.*386G>T
|
rs542172546
|
0.00025
|
NM_001134407.3(GRIN2A):c.*6846C>T
|
rs566418840
|
0.00025
|
NM_001134407.3(GRIN2A):c.*8051A>C
|
rs918021343
|
0.00024
|
NM_020361.5(CPA6):c.1271C>T (p.Ala424Val)
|
rs72654981
|
0.00024
|
NM_153033.5(KCTD7):c.687T>C (p.Asp229=)
|
rs372150992
|
0.00024
|
NM_020361.5(CPA6):c.-108G>A
|
rs188334231
|
0.00023
|
NM_198859.4(PRICKLE2):c.690C>T (p.Gly230=)
|
rs144338942
|
0.00023
|
NM_198904.4(GABRG2):c.922+6A>G
|
rs375294947
|
0.00023
|
NM_198586.3(NHLRC1):c.969C>T (p.Ser323=)
|
rs142941035
|
0.00022
|
NM_001161352.2(KCNMA1):c.2398G>T (p.Asp800Tyr)
|
rs142210216
|
0.00021
|
NM_004287.5(GOSR2):c.*2291C>G
|
rs186093347
|
0.00021
|
NM_018100.4(EFHC1):c.1587G>A (p.Ala529=)
|
rs377227885
|
0.00021
|
NM_153033.5(KCTD7):c.*1581C>G
|
rs570131389
|
0.00021
|
NM_198586.3(NHLRC1):c.990G>A (p.Gln330=)
|
rs148553723
|
0.00021
|
NM_198859.4(PRICKLE2):c.-146G>A
|
rs539401922
|
0.00021
|
NM_198904.4(GABRG2):c.*374A>G
|
rs573126853
|
0.00021
|
NM_198586.3(NHLRC1):c.*38G>T
|
rs377500729
|
0.00020
|
NM_000726.5(CACNB4):c.*795T>G
|
rs766545084
|
0.00019
|
NM_001122752.2(SERPINI1):c.-23G>A
|
rs886058166
|
0.00019
|
NM_001134407.3(GRIN2A):c.*8398G>A
|
rs886052517
|
0.00019
|
NM_001161352.2(KCNMA1):c.*862A>G
|
rs199819984
|
0.00019
|
NM_001161352.2(KCNMA1):c.2946C>T (p.Ser982=)
|
rs74699271
|
0.00019
|
NM_001161352.2(KCNMA1):c.37G>A (p.Gly13Ser)
|
rs1568036609
|
0.00019
|
NM_153033.4(KCTD7):c.*3825T>A
|
rs768325782
|
0.00019
|
NM_198904.4(GABRG2):c.*384C>T
|
rs773854777
|
0.00019
|
NM_198859.4(PRICKLE2):c.*3325G>A
|
rs531639386
|
0.00018
|
NM_198904.4(GABRG2):c.107+12C>T
|
rs369466385
|
0.00018
|
NM_198904.4(GABRG2):c.1236C>T (p.Tyr412=)
|
rs749951528
|
0.00018
|
NM_001134407.3(GRIN2A):c.*1751G>A
|
rs1025593492
|
0.00017
|
NM_198859.4(PRICKLE2):c.*1991C>T
|
rs570616523
|
0.00017
|
NM_000100.3(CSTB):c.-42C>T
|
rs776181852
|
0.00016
|
NM_001134407.3(GRIN2A):c.*3116C>G
|
rs987362569
|
0.00016
|
NM_004287.5(GOSR2):c.*1446A>T
|
rs572361575
|
0.00016
|
NM_004287.5(GOSR2):c.94+7A>C
|
rs376231923
|
0.00016
|
NM_153033.5(KCTD7):c.-155G>C
|
rs886062408
|
0.00016
|
NM_198904.4(GABRG2):c.*1468A>G
|
rs372041761
|
0.00016
|
NM_000100.3(CSTB):c.*334G>A
|
rs533969154
|
0.00015
|
NM_000742.4(CHRNA2):c.-544C>T
|
rs886062851
|
0.00014
|
NM_001127644.2(GABRA1):c.-4C>T
|
rs375475234
|
0.00014
|
NM_001134407.3(GRIN2A):c.*5006G>A
|
rs773012536
|
0.00014
|
NM_001161352.2(KCNMA1):c.*1529C>T
|
rs200493344
|
0.00014
|
NM_153033.5(KCTD7):c.*1404G>A
|
rs1007951856
|
0.00014
|
NM_198586.3(NHLRC1):c.*837G>A
|
rs536257194
|
0.00014
|
NM_198859.4(PRICKLE2):c.*2475G>A
|
rs905971725
|
0.00014
|
NM_198859.4(PRICKLE2):c.2103G>T (p.Leu701=)
|
rs200220646
|
0.00014
|
NM_198904.4(GABRG2):c.243T>A (p.Leu81=)
|
rs143295869
|
0.00014
|
NM_000100.4(CSTB):c.-12G>A
|
rs779920568
|
0.00013
|
NM_000816.3(GABRG2):c.-282C>T
|
rs772816792
|
0.00013
|
NM_001134407.3(GRIN2A):c.*4207G>A
|
rs747470370
|
0.00013
|
NM_004287.5(GOSR2):c.336+9G>A
|
rs200210055
|
0.00013
|
NM_153033.5(KCTD7):c.*668T>G
|
rs765653009
|
0.00013
|
NM_153033.5(KCTD7):c.362G>T (p.Arg121Leu)
|
rs199624315
|
0.00013
|
NM_198586.3(NHLRC1):c.513C>T (p.Ala171=)
|
rs148907696
|
0.00013
|
NM_198859.4(PRICKLE2):c.*690G>A
|
rs779719872
|
0.00013
|
NM_198859.4(PRICKLE2):c.-447C>T
|
rs886058806
|
0.00013
|
NM_198859.4(PRICKLE2):c.445G>T (p.Ala149Ser)
|
rs202025796
|
0.00013
|
NM_001134407.3(GRIN2A):c.*6178T>C
|
rs886052531
|
0.00012
|
NM_001134407.3(GRIN2A):c.*7289T>A
|
rs868376839
|
0.00012
|
NM_001134407.3(GRIN2A):c.*7982A>C
|
rs766455387
|
0.00012
|
NM_018100.4(EFHC1):c.*2211C>T
|
rs753392817
|
0.00012
|
NM_198859.4(PRICKLE2):c.*3504C>T
|
rs538054092
|
0.00012
|
NM_198859.4(PRICKLE2):c.*469G>T
|
rs148724634
|
0.00012
|
NM_198859.4(PRICKLE2):c.594C>T (p.Cys198=)
|
rs367680077
|
0.00012
|
NM_000726.5(CACNB4):c.*1520del
|
rs374745796
|
0.00011
|
NM_000726.5(CACNB4):c.*4145T>C
|
rs781255950
|
0.00011
|
NM_001134407.3(GRIN2A):c.*1463C>T
|
rs567206005
|
0.00011
|
NM_001134407.3(GRIN2A):c.*150C>T
|
rs759187870
|
0.00011
|
NM_001134407.3(GRIN2A):c.*2395C>T
|
rs547067022
|
0.00011
|
NM_005097.3(LGI1):c.-227T>C
|
rs150194814
|
0.00011
|
NM_005097.4(LGI1):c.191C>T (p.Thr64Ile)
|
rs373616721
|
0.00011
|
NM_020361.4(CPA6):c.-247C>A
|
rs530580560
|
0.00011
|
NM_153033.5(KCTD7):c.-90G>A
|
rs1031117251
|
0.00011
|
NM_153033.5(KCTD7):c.621C>A (p.Leu207=)
|
rs376944331
|
0.00011
|
NM_198586.3(NHLRC1):c.478T>C (p.Cys160Arg)
|
rs200595273
|
0.00011
|
NM_198859.4(PRICKLE2):c.*1982A>G
|
rs377752523
|
0.00011
|
NM_000742.4(CHRNA2):c.*997C>G
|
rs539161001
|
0.00010
|
NM_001134407.3(GRIN2A):c.*1998A>T
|
rs886052542
|
0.00010
|
NM_001134407.3(GRIN2A):c.*5473G>A
|
rs886052532
|
0.00010
|
NM_001134407.3(GRIN2A):c.*574C>A
|
rs886052550
|
0.00010
|
NM_004287.5(GOSR2):c.246T>C (p.Thr82=)
|
rs141380070
|
0.00010
|
NM_005097.4(LGI1):c.1106C>T (p.Ser369Phe)
|
rs150357603
|
0.00010
|
NM_018100.4(EFHC1):c.*2430C>T
|
rs749445189
|
0.00010
|
NM_018100.4(EFHC1):c.1370G>T (p.Arg457Leu)
|
rs369468811
|
0.00010
|
NM_020361.5(CPA6):c.581G>A (p.Gly194Asp)
|
rs201589247
|
0.00010
|
NM_153033.5(KCTD7):c.*1960T>C
|
rs752605506
|
0.00010
|
NM_153033.5(KCTD7):c.*738C>G
|
rs755200443
|
0.00010
|
NM_153033.5(KCTD7):c.-181T>G
|
rs886062407
|
0.00010
|
NM_198859.4(PRICKLE2):c.*1568C>T
|
rs558482444
|
0.00010
|
NM_198859.4(PRICKLE2):c.*4769A>G
|
rs981163962
|
0.00010
|
NM_000726.5(CACNB4):c.*4919G>A
|
rs763593694
|
0.00009
|
NM_000726.5(CACNB4):c.*5487T>C
|
rs111700454
|
0.00009
|
NM_001161352.2(KCNMA1):c.*497A>G
|
rs200933957
|
0.00009
|
NM_001161352.2(KCNMA1):c.-25C>T
|
rs373677230
|
0.00009
|
NM_001161352.2(KCNMA1):c.1749+6G>A
|
rs373648078
|
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_198586.3(NHLRC1):c.1091C>T (p.Ser364Leu)
|
rs78324544
|
0.00009
|
NM_198859.4(PRICKLE2):c.*5092T>C
|
rs1056419773
|
0.00009
|
NM_198859.4(PRICKLE2):c.1602G>A (p.Thr534=)
|
rs144757200
|
0.00009
|
NM_002247.3(KCNMA1):c.-175C>A
|
rs184782926
|
0.00008
|
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln)
|
rs145754721
|
0.00008
|
NM_000100.4(CSTB):c.45G>A (p.Glu15=)
|
rs1057521317
|
0.00007
|
NM_001134407.3(GRIN2A):c.*1137T>C
|
rs756637069
|
0.00007
|
NM_001134407.3(GRIN2A):c.*6865T>G
|
rs879478291
|
0.00007
|
NM_020361.5(CPA6):c.*286A>G
|
rs1370253960
|
0.00007
|
NM_153033.5(KCTD7):c.76G>T (p.Asp26Tyr)
|
rs371919994
|
0.00007
|
NM_198586.3(NHLRC1):c.*797A>G
|
rs886061250
|
0.00007
|
NM_198859.4(PRICKLE2):c.*146C>T
|
rs142263776
|
0.00007
|
NM_198859.4(PRICKLE2):c.*65G>A
|
rs575414554
|
0.00007
|
NM_198904.4(GABRG2):c.135C>T (p.Asp45=)
|
rs375308385
|
0.00007
|
NM_000100.3(CSTB):c.*301G>A
|
rs886057111
|
0.00006
|
NM_000726.5(CACNB4):c.*1785G>A
|
rs886054961
|
0.00006
|
NM_000726.5(CACNB4):c.*1931T>C
|
rs886054958
|
0.00006
|
NM_000726.5(CACNB4):c.*4569A>G
|
rs778742650
|
0.00006
|
NM_000742.4(CHRNA2):c.-136-14T>C
|
rs886062847
|
0.00006
|
NM_000742.4(CHRNA2):c.-78C>G
|
rs886062845
|
0.00006
|
NM_001134407.3(GRIN2A):c.*2053C>T
|
rs775312419
|
0.00006
|
NM_001134407.3(GRIN2A):c.*5161C>T
|
rs369083217
|
0.00006
|
NM_001134407.3(GRIN2A):c.*6986A>G
|
rs190006327
|
0.00006
|
NM_001134407.3(GRIN2A):c.*8609C>T
|
rs760313721
|
0.00006
|
NM_001134407.3(GRIN2A):c.2909G>A (p.Arg970Gln)
|
rs148669437
|
0.00006
|
NM_001161352.2(KCNMA1):c.*1202C>A
|
rs200435801
|
0.00006
|
NM_001161352.2(KCNMA1):c.182T>C (p.Val61Ala)
|
rs200420124
|
0.00006
|
NM_018100.4(EFHC1):c.*681G>A
|
rs560182875
|
0.00006
|
NM_018100.4(EFHC1):c.*957C>T
|
rs761411516
|
0.00006
|
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp)
|
rs369503191
|
0.00006
|
NM_020361.5(CPA6):c.1021A>G (p.Ile341Val)
|
rs766177388
|
0.00006
|
NM_153026.3(PRICKLE1):c.*594_*595del
|
rs769616581
|
0.00006
|
NM_153026.3(PRICKLE1):c.-279_-277dup
|
rs886049380
|
0.00006
|
NM_153033.5(KCTD7):c.*2530G>A
|
rs188529052
|
0.00006
|
NM_153033.5(KCTD7):c.*3508G>T
|
rs573049844
|
0.00006
|
NM_153033.5(KCTD7):c.*837A>G
|
rs886062415
|
0.00006
|
NM_153033.5(KCTD7):c.256T>C (p.Tyr86His)
|
rs149255570
|
0.00006
|
NM_198859.4(PRICKLE2):c.-122G>T
|
rs536662179
|
0.00006
|
NM_198859.4(PRICKLE2):c.1639C>A (p.Leu547Met)
|
rs368904012
|
0.00006
|
NM_198904.4(GABRG2):c.1254C>T (p.Asp418=)
|
rs113085352
|
0.00006
|
NM_198904.4(GABRG2):c.41A>G (p.Tyr14Cys)
|
rs61750979
|
0.00006
|
NM_001134407.3(GRIN2A):c.*1359C>T
|
rs759998456
|
0.00005
|
NM_001134407.3(GRIN2A):c.*856G>A
|
rs928023607
|
0.00005
|
NM_001134407.3(GRIN2A):c.567C>A (p.Thr189=)
|
rs758864728
|
0.00005
|
NM_001161352.2(KCNMA1):c.2015+5G>C
|
rs746586408
|
0.00005
|
NM_005097.4(LGI1):c.1392G>A (p.Ser464=)
|
rs148804268
|
0.00005
|
NM_020361.5(CPA6):c.1126+13C>T
|
rs768409721
|
0.00005
|
NM_153033.5(KCTD7):c.*516T>C
|
rs865998140
|
0.00005
|
NM_198904.4(GABRG2):c.*239C>G
|
rs889255383
|
0.00005
|
NM_000726.5(CACNB4):c.*4081G>A
|
rs148903851
|
0.00004
|
NM_000742.4(CHRNA2):c.*159G>A
|
rs1026564153
|
0.00004
|
NM_000742.4(CHRNA2):c.*1752G>A
|
rs1040675339
|
0.00004
|
NM_000742.4(CHRNA2):c.*1775C>T
|
rs773958762
|
0.00004
|
NM_000742.4(CHRNA2):c.-537C>T
|
rs564405421
|
0.00004
|
NM_001134407.3(GRIN2A):c.*5062A>G
|
rs762073558
|
0.00004
|
NM_001134407.3(GRIN2A):c.*9278C>T
|
rs139007678
|
0.00004
|
NM_001134407.3(GRIN2A):c.1119A>G (p.Glu373=)
|
rs368406915
|
0.00004
|
NM_001134407.3(GRIN2A):c.747C>T (p.Thr249=)
|
rs774169125
|
0.00004
|
NM_001161352.2(KCNMA1):c.*1633C>T
|
rs201201425
|
0.00004
|
NM_001161352.2(KCNMA1):c.*50C>T
|
rs200326097
|
0.00004
|
NM_001161352.2(KCNMA1):c.1227C>T (p.His409=)
|
rs202161397
|
0.00004
|
NM_001161352.2(KCNMA1):c.1407C>T (p.Ser469=)
|
rs370862113
|
0.00004
|
NM_001161352.2(KCNMA1):c.1563C>A (p.Ile521=)
|
rs78544619
|
0.00004
|
NM_001161352.2(KCNMA1):c.2276A>C (p.Glu759Ala)
|
rs767957728
|
0.00004
|
NM_001161352.2(KCNMA1):c.3499G>A (p.Val1167Met)
|
rs376264061
|
0.00004
|
NM_001161352.2(KCNMA1):c.771C>T (p.Pro257=)
|
rs367642241
|
0.00004
|
NM_004287.5(GOSR2):c.404A>G (p.Asn135Ser)
|
rs765513191
|
0.00004
|
NM_018100.4(EFHC1):c.1265A>T (p.Tyr422Phe)
|
rs750259384
|
0.00004
|
NM_020361.5(CPA6):c.791G>A (p.Arg264His)
|
rs752555064
|
0.00004
|
NM_153033.4(KCTD7):c.*3836T>G
|
rs370135424
|
0.00004
|
NM_153033.5(KCTD7):c.*3404T>C
|
rs1206471914
|
0.00004
|
NM_153033.5(KCTD7):c.-55C>T
|
rs927832797
|
0.00004
|
NM_198859.4(PRICKLE2):c.*3672C>G
|
rs904907709
|
0.00004
|
NM_198859.4(PRICKLE2):c.-285A>T
|
rs886058803
|
0.00004
|
NM_198859.4(PRICKLE2):c.345C>T (p.Arg115=)
|
rs148888682
|
0.00004
|
NM_198904.4(GABRG2):c.*1407T>A
|
rs748908802
|
0.00004
|
NM_000100.4(CSTB):c.*209A>T
|
rs1466237377
|
0.00003
|
NM_000100.4(CSTB):c.9C>T (p.Cys3=)
|
rs555930471
|
0.00003
|
NM_000726.5(CACNB4):c.*1937T>G
|
rs758893086
|
0.00003
|
NM_000726.5(CACNB4):c.*5122C>T
|
rs187940787
|
0.00003
|
NM_000726.5(CACNB4):c.1278T>C (p.Tyr426=)
|
rs376015337
|
0.00003
|
NM_000742.4(CHRNA2):c.*1265T>G
|
rs973667975
|
0.00003
|
NM_001134407.3(GRIN2A):c.*1950G>T
|
rs926971233
|
0.00003
|
NM_001134407.3(GRIN2A):c.*3589G>A
|
rs763658518
|
0.00003
|
NM_001134407.3(GRIN2A):c.*4800G>A
|
rs376201380
|
0.00003
|
NM_001134407.3(GRIN2A):c.*5471T>C
|
rs886052533
|
0.00003
|
NM_001134407.3(GRIN2A):c.*7207G>A
|
rs886052525
|
0.00003
|
NM_001134407.3(GRIN2A):c.*7483C>T
|
rs551009533
|
0.00003
|
NM_001134407.3(GRIN2A):c.*8359T>C
|
rs886052518
|
0.00003
|
NM_001161352.2(KCNMA1):c.*1887G>A
|
rs886047261
|
0.00003
|
NM_001161352.2(KCNMA1):c.-104G>A
|
rs192912320
|
0.00003
|
NM_001161352.2(KCNMA1):c.2675C>T (p.Thr892Met)
|
rs200440843
|
0.00003
|
NM_001161352.2(KCNMA1):c.31A>G (p.Ser11Gly)
|
rs886047270
|
0.00003
|
NM_001161352.2(KCNMA1):c.3650A>G (p.Asn1217Ser)
|
rs563967757
|
0.00003
|
NM_001161352.2(KCNMA1):c.3673C>T (p.Arg1225Trp)
|
rs148648986
|
0.00003
|
NM_004287.5(GOSR2):c.*18G>T
|
rs778066395
|
0.00003
|
NM_004287.5(GOSR2):c.*2253C>T
|
rs886053085
|
0.00003
|
NM_004287.5(GOSR2):c.29+13C>T
|
rs747791818
|
0.00003
|
NM_005097.4(LGI1):c.*323A>C
|
rs767119123
|
0.00003
|
NM_005097.4(LGI1):c.1336A>C (p.Ile446Leu)
|
rs769204967
|
0.00003
|
NM_018100.4(EFHC1):c.1765G>A (p.Glu589Lys)
|
rs201197637
|
0.00003
|
NM_020361.5(CPA6):c.-51C>A
|
rs758163267
|
0.00003
|
NM_020361.5(CPA6):c.505T>C (p.Tyr169His)
|
rs201643526
|
0.00003
|
NM_020361.5(CPA6):c.902C>T (p.Pro301Leu)
|
rs753468111
|
0.00003
|
NM_020361.5(CPA6):c.920C>T (p.Ala307Val)
|
rs143107403
|
0.00003
|
NM_020361.5(CPA6):c.98A>G (p.Tyr33Cys)
|
rs368736137
|
0.00003
|
NM_020822.3(KCNT1):c.3149C>T (p.Thr1050Ile)
|
rs1313669242
|
0.00003
|
NM_153026.3(PRICKLE1):c.*614G>A
|
rs886049372
|
0.00003
|
NM_153033.5(KCTD7):c.*2746G>C
|
rs886062424
|
0.00003
|
NM_153033.5(KCTD7):c.-46C>G
|
rs886062412
|
0.00003
|
NM_153033.5(KCTD7):c.-94C>T
|
rs886062410
|
0.00003
|
NM_153033.5(KCTD7):c.145T>C (p.Phe49Leu)
|
rs559020294
|
0.00003
|
NM_153033.5(KCTD7):c.400A>G (p.Ile134Val)
|
rs751720071
|
0.00003
|
NM_198859.4(PRICKLE2):c.*2909T>A
|
rs545276442
|
0.00003
|
NM_198859.4(PRICKLE2):c.*4109C>G
|
rs886058784
|
0.00003
|
NM_198859.4(PRICKLE2):c.*4455A>G
|
rs746249344
|
0.00003
|
NM_198859.4(PRICKLE2):c.-271A>G
|
rs886058802
|
0.00003
|
NM_198859.4(PRICKLE2):c.-363G>A
|
rs569115082
|
0.00003
|
NM_198859.4(PRICKLE2):c.1048C>T (p.Pro350Ser)
|
rs771168722
|
0.00003
|
NM_198859.4(PRICKLE2):c.1535G>A (p.Gly512Asp)
|
rs772691573
|
0.00003
|
NM_198904.4(GABRG2):c.*1320G>A
|
rs886060385
|
0.00003
|
NM_198904.4(GABRG2):c.-217C>G
|
rs748771306
|
0.00003
|
NM_000100.3(CSTB):c.-43C>G
|
rs886057113
|
0.00002
|
NM_000726.5(CACNB4):c.*3387C>G
|
rs886054955
|
0.00002
|
NM_000742.4(CHRNA2):c.-137+11T>C
|
rs886062848
|
0.00002
|
NM_000742.4(CHRNA2):c.-471G>A
|
rs886062850
|
0.00002
|
NM_000816.3(GABRG2):c.-250C>T
|
rs886060376
|
0.00002
|
NM_001134407.3(GRIN2A):c.*2622A>T
|
rs886052540
|
0.00002
|
NM_001134407.3(GRIN2A):c.*7906A>G
|
rs1378990053
|
0.00002
|
NM_001134407.3(GRIN2A):c.1380C>T (p.Cys460=)
|
rs375291296
|
0.00002
|
NM_001161352.2(KCNMA1):c.*2326C>A
|
rs199764115
|
0.00002
|
NM_001161352.2(KCNMA1):c.3138C>G (p.Leu1046=)
|
rs766964098
|
0.00002
|
NM_004287.5(GOSR2):c.*1277C>G
|
rs577505377
|
0.00002
|
NM_004287.5(GOSR2):c.*2195C>A
|
rs565638240
|
0.00002
|
NM_018100.4(EFHC1):c.1451A>G (p.Tyr484Cys)
|
rs201261630
|
0.00002
|
NM_018100.4(EFHC1):c.1557C>T (p.Asn519=)
|
rs773385237
|
0.00002
|
NM_018100.4(EFHC1):c.43A>G (p.Thr15Ala)
|
rs750899949
|
0.00002
|
NM_020361.5(CPA6):c.*260A>C
|
rs531558365
|
0.00002
|
NM_020361.5(CPA6):c.-191T>C
|
rs1014766923
|
0.00002
|
NM_020361.5(CPA6):c.383G>A (p.Arg128Gln)
|
rs779117472
|
0.00002
|
NM_020361.5(CPA6):c.544C>T (p.Arg182Ter)
|
rs773734224
|
0.00002
|
NM_153033.5(KCTD7):c.*1624T>C
|
rs765576236
|
0.00002
|
NM_153033.5(KCTD7):c.*2190C>T
|
rs1435600618
|
0.00002
|
NM_153033.5(KCTD7):c.*2806G>A
|
rs886062425
|
0.00002
|
NM_153033.5(KCTD7):c.369A>C (p.Arg123=)
|
rs753658170
|
0.00002
|
NM_153033.5(KCTD7):c.749C>T (p.Thr250Met)
|
rs760837610
|
0.00002
|
NM_198586.3(NHLRC1):c.*210T>C
|
rs1370146880
|
0.00002
|
NM_198859.4(PRICKLE2):c.*1114C>T
|
rs752334583
|
0.00002
|
NM_198859.4(PRICKLE2):c.*1633G>A
|
rs1405669224
|
0.00002
|
NM_198859.4(PRICKLE2):c.*3540C>T
|
rs977486642
|
0.00002
|
NM_198859.4(PRICKLE2):c.*4531T>C
|
rs1404217716
|
0.00002
|
NM_198859.4(PRICKLE2):c.-371C>T
|
rs886058805
|
0.00002
|
NM_198859.4(PRICKLE2):c.-559A>G
|
rs550234814
|
0.00002
|
NM_198859.4(PRICKLE2):c.123G>A (p.Pro41=)
|
rs727504106
|
0.00002
|
NM_198859.4(PRICKLE2):c.1561C>T (p.Arg521Cys)
|
rs749232741
|
0.00002
|
NM_198859.4(PRICKLE2):c.1590A>G (p.Thr530=)
|
rs886058800
|
0.00002
|
NM_198904.4(GABRG2):c.*117A>G
|
rs187224842
|
0.00002
|
NM_198904.4(GABRG2):c.24C>A (p.Ser8Arg)
|
rs183259247
|
0.00002
|
NM_198904.4(GABRG2):c.759G>A (p.Lys253=)
|
rs202124575
|
0.00002
|
NM_000100.3(CSTB):c.-55G>A
|
rs533879406
|
0.00001
|
NM_000100.4(CSTB):c.169-14C>T
|
rs757593576
|
0.00001
|
NM_000100.4(CSTB):c.169G>T (p.Val57Leu)
|
rs796052394
|
0.00001
|
NM_000726.5(CACNB4):c.*1811C>A
|
rs886054960
|
0.00001
|
NM_000726.5(CACNB4):c.*2924T>C
|
rs886054956
|
0.00001
|
NM_000726.5(CACNB4):c.*3688G>A
|
rs886054954
|
0.00001
|
NM_000726.5(CACNB4):c.64-4C>T
|
rs886054970
|
0.00001
|
NM_000742.4(CHRNA2):c.*1096C>G
|
rs886062842
|
0.00001
|
NM_000742.4(CHRNA2):c.*133G>T
|
rs1395465476
|
0.00001
|
NM_000742.4(CHRNA2):c.*1845A>T
|
rs377169301
|
0.00001
|
NM_000742.4(CHRNA2):c.1103G>T (p.Gly368Val)
|
rs765772636
|
0.00001
|
NM_000742.4(CHRNA2):c.1318G>A (p.Gly440Ser)
|
rs1405035752
|
0.00001
|
NM_000742.4(CHRNA2):c.260G>A (p.Arg87His)
|
rs532212433
|
0.00001
|
NM_000742.4(CHRNA2):c.339+10C>A
|
rs746630071
|
0.00001
|
NM_000742.4(CHRNA2):c.430G>A (p.Asp144Asn)
|
rs371067379
|
0.00001
|
NM_000742.4(CHRNA2):c.957G>A (p.Pro319=)
|
rs375239013
|
0.00001
|
NM_000816.3(GABRG2):c.-334C>T
|
rs886060374
|
0.00001
|
NM_000816.3(GABRG2):c.-355A>C
|
rs1241101902
|
0.00001
|
NM_001134407.3(GRIN2A):c.*1194G>A
|
rs1900603318
|
0.00001
|
NM_001134407.3(GRIN2A):c.*2314G>A
|
rs1333457208
|
0.00001
|
NM_001134407.3(GRIN2A):c.*391C>G
|
rs1352613566
|
0.00001
|
NM_001134407.3(GRIN2A):c.*4281A>G
|
rs570250938
|
0.00001
|
NM_001134407.3(GRIN2A):c.*5693C>A
|
rs1347007533
|
0.00001
|
NM_001134407.3(GRIN2A):c.*6084C>T
|
rs1596368278
|
0.00001
|
NM_001134407.3(GRIN2A):c.*7775C>T
|
rs886052521
|
0.00001
|
NM_001134407.3(GRIN2A):c.*7897C>T
|
rs886052520
|
0.00001
|
NM_001134407.3(GRIN2A):c.*8542T>C
|
rs886052516
|
0.00001
|
NM_001134407.3(GRIN2A):c.*9481T>A
|
rs967087487
|
0.00001
|
NM_001134407.3(GRIN2A):c.*971C>A
|
rs886052547
|
0.00001
|
NM_001134407.3(GRIN2A):c.2595+14G>A
|
rs1279723520
|
0.00001
|
NM_001134407.3(GRIN2A):c.2985G>A (p.Thr995=)
|
rs781646325
|
0.00001
|
NM_001134407.3(GRIN2A):c.3561C>T (p.Tyr1187=)
|
rs750802726
|
0.00001
|
NM_001134407.3(GRIN2A):c.3636G>A (p.Thr1212=)
|
rs765614514
|
0.00001
|
NM_001134407.3(GRIN2A):c.3678C>T (p.Gly1226=)
|
rs749144109
|
0.00001
|
NM_001134407.3(GRIN2A):c.3809A>T (p.Asp1270Val)
|
rs750649530
|
0.00001
|
NM_001134407.3(GRIN2A):c.3993C>A (p.Val1331=)
|
rs886052554
|
0.00001
|
NM_001134407.3(GRIN2A):c.687C>T (p.Leu229=)
|
rs372649219
|
0.00001
|
NM_001134407.3(GRIN2A):c.835G>A (p.Val279Ile)
|
rs1351708359
|
0.00001
|
NM_001134407.3(GRIN2A):c.843C>T (p.Tyr281=)
|
rs554338361
|
0.00001
|
NM_001134407.3(GRIN2A):c.979C>G (p.Pro327Ala)
|
rs771168389
|
0.00001
|
NM_001161352.2(KCNMA1):c.*1025G>C
|
rs886047263
|
0.00001
|
NM_001161352.2(KCNMA1):c.*129T>G
|
rs201808440
|
0.00001
|
NM_001161352.2(KCNMA1):c.*15G>A
|
rs200873312
|
0.00001
|
NM_001161352.2(KCNMA1):c.*21G>A
|
rs774699192
|
0.00001
|
NM_001161352.2(KCNMA1):c.*2226A>G
|
rs560236547
|
0.00001
|
NM_001161352.2(KCNMA1):c.*2278G>A
|
rs886047257
|
0.00001
|
NM_001161352.2(KCNMA1):c.*531C>T
|
rs748726029
|
0.00001
|
NM_001161352.2(KCNMA1):c.*834T>C
|
rs543740279
|
0.00001
|
NM_001161352.2(KCNMA1):c.1131+13C>A
|
rs886047268
|
0.00001
|
NM_001161352.2(KCNMA1):c.1209G>A (p.Ala403=)
|
rs199572145
|
0.00001
|
NM_001161352.2(KCNMA1):c.1486G>A (p.Ala496Thr)
|
rs202213336
|
0.00001
|
NM_001161352.2(KCNMA1):c.1860-4G>T
|
rs763267420
|
0.00001
|
NM_001161352.2(KCNMA1):c.2511C>T (p.Val837=)
|
rs200166976
|
0.00001
|
NM_001161352.2(KCNMA1):c.2981C>T (p.Thr994Ile)
|
rs768061213
|
0.00001
|
NM_001161352.2(KCNMA1):c.3333G>A (p.Ala1111=)
|
rs200045097
|
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.602+12A>G
|
rs199818612
|
0.00001
|
NM_003042.4(SLC6A1):c.75C>G (p.Asp25Glu)
|
rs142007193
|
0.00001
|
NM_004287.5(GOSR2):c.*2213G>T
|
rs886053084
|
0.00001
|
NM_004287.5(GOSR2):c.*2589T>C
|
rs886053087
|
0.00001
|
NM_004287.5(GOSR2):c.541C>G (p.Leu181Val)
|
rs772342696
|
0.00001
|
NM_005097.3(LGI1):c.-304C>T
|
rs886047484
|
0.00001
|
NM_005097.4(LGI1):c.*282A>G
|
rs1172545288
|
0.00001
|
NM_005097.4(LGI1):c.*59T>A
|
rs886047488
|
0.00001
|
NM_005097.4(LGI1):c.135G>C (p.Val45=)
|
rs768003944
|
0.00001
|
NM_018100.4(EFHC1):c.*2023T>C
|
rs886061638
|
0.00001
|
NM_018100.4(EFHC1):c.*226A>G
|
rs562067977
|
0.00001
|
NM_018100.4(EFHC1):c.1194T>C (p.Phe398=)
|
rs201946033
|
0.00001
|
NM_018100.4(EFHC1):c.144C>T (p.Gly48=)
|
rs372240827
|
0.00001
|
NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter)
|
rs149998588
|
0.00001
|
NM_018100.4(EFHC1):c.1895A>G (p.Tyr632Cys)
|
rs770182350
|
0.00001
|
NM_018100.4(EFHC1):c.346A>G (p.Arg116Gly)
|
rs886061627
|
0.00001
|
NM_018100.4(EFHC1):c.559G>A (p.Asp187Asn)
|
rs148615781
|
0.00001
|
NM_020361.5(CPA6):c.-76T>G
|
rs886063083
|
0.00001
|
NM_020361.5(CPA6):c.1246C>T (p.Pro416Ser)
|
rs759525269
|
0.00001
|
NM_020361.5(CPA6):c.1288A>G (p.Met430Val)
|
rs774898194
|
0.00001
|
NM_020361.5(CPA6):c.140C>G (p.Pro47Arg)
|
rs981686338
|
0.00001
|
NM_020361.5(CPA6):c.466C>T (p.His156Tyr)
|
rs368127412
|
0.00001
|
NM_153033.5(KCTD7):c.*1123A>G
|
rs886062418
|
0.00001
|
NM_153033.5(KCTD7):c.*1810C>T
|
rs886062421
|
0.00001
|
NM_153033.5(KCTD7):c.*2322G>A
|
rs886062423
|
0.00001
|
NM_153033.5(KCTD7):c.*2327T>C
|
rs926998002
|
0.00001
|
NM_153033.5(KCTD7):c.*2822G>A
|
rs533167133
|
0.00001
|
NM_153033.5(KCTD7):c.*365C>T
|
rs1367502451
|
0.00001
|
NM_153033.5(KCTD7):c.*3700G>A
|
rs1464418026
|
0.00001
|
NM_153033.5(KCTD7):c.*55C>T
|
rs886062414
|
0.00001
|
NM_153033.5(KCTD7):c.*892C>T
|
rs886062417
|
0.00001
|
NM_153033.5(KCTD7):c.181C>T (p.His61Tyr)
|
rs368018261
|
0.00001
|
NM_153033.5(KCTD7):c.239T>C (p.Met80Thr)
|
rs202167686
|
0.00001
|
NM_153033.5(KCTD7):c.403G>A (p.Gly135Arg)
|
rs781725855
|
0.00001
|
NM_153033.5(KCTD7):c.524G>A (p.Arg175Gln)
|
rs758709078
|
0.00001
|
NM_153033.5(KCTD7):c.68C>T (p.Ala23Val)
|
rs745360140
|
0.00001
|
NM_198586.3(NHLRC1):c.*537T>C
|
rs935643502
|
0.00001
|
NM_198586.3(NHLRC1):c.*61C>A
|
rs886061252
|
0.00001
|
NM_198586.3(NHLRC1):c.1076T>A (p.Val359Asp)
|
rs372993582
|
0.00001
|
NM_198859.4(PRICKLE2):c.*1292A>G
|
rs934193331
|
0.00001
|
NM_198859.4(PRICKLE2):c.*1495T>C
|
rs879297640
|
0.00001
|
NM_198859.4(PRICKLE2):c.*2089C>T
|
rs577636282
|
0.00001
|
NM_198859.4(PRICKLE2):c.*4071A>G
|
rs886058785
|
0.00001
|
NM_198859.4(PRICKLE2):c.*4196T>G
|
rs1389084658
|
0.00001
|
NM_198859.4(PRICKLE2):c.*4330A>T
|
rs538069337
|
0.00001
|
NM_198859.4(PRICKLE2):c.*943G>T
|
rs953505615
|
0.00001
|
NM_198859.4(PRICKLE2):c.-13C>G
|
rs750990245
|
0.00001
|
NM_198859.4(PRICKLE2):c.1169G>A (p.Arg390Gln)
|
rs773493989
|
0.00001
|
NM_198859.4(PRICKLE2):c.1334A>C (p.His445Pro)
|
rs1162884450
|
0.00001
|
NM_198859.4(PRICKLE2):c.2092G>A (p.Ala698Thr)
|
rs763974341
|
0.00001
|
NM_198859.4(PRICKLE2):c.2213A>G (p.His738Arg)
|
rs766757910
|
0.00001
|
NM_198859.4(PRICKLE2):c.490G>T (p.Val164Phe)
|
rs886058801
|
0.00001
|
NM_198859.4(PRICKLE2):c.636G>A (p.Gly212=)
|
rs567814417
|
0.00001
|
NM_198904.4(GABRG2):c.*119G>A
|
rs1168516188
|
0.00001
|
NM_198904.4(GABRG2):c.*164C>A
|
rs1765522712
|
0.00001
|
NM_198904.4(GABRG2):c.*1678A>G
|
rs1196588654
|
0.00001
|
NM_198904.4(GABRG2):c.*32T>C
|
rs749257839
|
0.00001
|
NM_198904.4(GABRG2):c.*367G>A
|
rs1365753500
|
0.00001
|
NM_198904.4(GABRG2):c.*468T>G
|
rs1167572595
|
0.00001
|
NM_198904.4(GABRG2):c.-114T>C
|
rs886060379
|
0.00001
|
NM_198904.4(GABRG2):c.-196C>T
|
rs1478556756
|
0.00001
|
NM_198904.4(GABRG2):c.1172G>A (p.Arg391His)
|
rs528036202
|
0.00001
|
NM_198904.4(GABRG2):c.1334G>A (p.Arg445His)
|
rs587780341
|
0.00001
|
NM_198904.4(GABRG2):c.1389G>A (p.Leu463=)
|
rs765904792
|
0.00001
|
NM_198904.4(GABRG2):c.530G>A (p.Arg177Gln)
|
rs1445637165
|
0.00001
|
NM_198904.4(GABRG2):c.769+10A>G
|
rs765703079
|
0.00001
|
NM_000100.3(CSTB):c.*287G>A
|
rs768173714
|
|
NM_000100.4(CSTB):c.*227A>G
|
rs886057112
|
|
NM_000100.4(CSTB):c.193G>A (p.Val65Ile)
|
rs570768038
|
|
NM_000726.4(CACNB4):c.-57G>T
|
rs886054971
|
|
NM_000726.5(CACNB4):c.*1501del
|
rs886054963
|
|
NM_000726.5(CACNB4):c.*1501dup
|
rs886054963
|
|
NM_000726.5(CACNB4):c.*151del
|
rs79470866
|
|
NM_000726.5(CACNB4):c.*151dup
|
rs79470866
|
|
NM_000726.5(CACNB4):c.*1635T>C
|
rs886054962
|
|
NM_000726.5(CACNB4):c.*1826A>G
|
rs886054959
|
|
NM_000726.5(CACNB4):c.*2542G>A
|
rs886054957
|
|
NM_000726.5(CACNB4):c.*442_*443del
|
rs886054966
|
|
NM_000726.5(CACNB4):c.*454del
|
rs879114509
|
|
NM_000726.5(CACNB4):c.*454dup
|
rs879114509
|
|
NM_000726.5(CACNB4):c.*4845T>C
|
rs886054953
|
|
NM_000726.5(CACNB4):c.*5418T>C
|
rs886054952
|
|
NM_000726.5(CACNB4):c.*5863T>G
|
rs886054951
|
|
NM_000726.5(CACNB4):c.*5977G>T
|
rs886054950
|
|
NM_000726.5(CACNB4):c.*5995dup
|
rs886054949
|
|
NM_000726.5(CACNB4):c.187G>C (p.Asp63His)
|
rs886054969
|
|
NM_000726.5(CACNB4):c.337G>T (p.Val113Phe)
|
rs886054968
|
|
NM_000726.5(CACNB4):c.642T>C (p.Asp214=)
|
rs886054967
|
|
NM_000742.3(CHRNA2):c.-563_-562dupTG
|
rs796623573
|
|
NM_000742.3(CHRNA2):c.-576_-575insTA
|
rs886062854
|
|
NM_000742.3(CHRNA2):c.-578_-573delATGTGT
|
rs1554517016
|
|
NM_000742.3(CHRNA2):c.-581_-578delTGTA
|
rs1554517018
|
|
NM_000742.3(CHRNA2):c.-601_-600TG[10]
|
rs139814974
|
|
NM_000742.3(CHRNA2):c.-601_-600TG[12]
|
rs139814974
|
|
NM_000742.3(CHRNA2):c.-601_-600TG[13]
|
rs139814974
|
|
NM_000742.3(CHRNA2):c.-601_-600TG[14]
|
rs139814974
|
|
NM_000742.4(CHRNA2):c.*1090C>T
|
rs906182736
|
|
NM_000742.4(CHRNA2):c.*1395C>A
|
rs886062841
|
|
NM_000742.4(CHRNA2):c.*1688G>C
|
rs996594019
|
|
NM_000742.4(CHRNA2):c.*1707C>G
|
rs533752912
|
|
NM_000742.4(CHRNA2):c.*1707C>T
|
rs533752912
|
|
NM_000742.4(CHRNA2):c.*1769C>G
|
rs1451704235
|
|
NM_000742.4(CHRNA2):c.*196G>T
|
rs1267504386
|
|
NM_000742.4(CHRNA2):c.*348C>T
|
rs930285465
|
|
NM_000742.4(CHRNA2):c.*479G>C
|
rs574004327
|
|
NM_000742.4(CHRNA2):c.*662T>C
|
rs1812461161
|
|
NM_000742.4(CHRNA2):c.*892T>A
|
rs886062843
|
|
NM_000742.4(CHRNA2):c.-133C>T
|
rs886062846
|
|
NM_000742.4(CHRNA2):c.-312G>T
|
rs886062849
|
|
NM_000742.4(CHRNA2):c.-562GA[8]
|
rs150699126
|
|
NM_000742.4(CHRNA2):c.1000T>C (p.Phe334Leu)
|
rs1812582220
|
|
NM_000742.4(CHRNA2):c.1084A>T (p.Met362Leu)
|
rs796052301
|
|
NM_000742.4(CHRNA2):c.1105dup (p.Ala369fs)
|
rs757376257
|
|
NM_000742.4(CHRNA2):c.1163A>G (p.Glu388Gly)
|
rs886062844
|
|
NM_000742.4(CHRNA2):c.1354G>T (p.Glu452Ter)
|
rs778197366
|
|
NM_000742.4(CHRNA2):c.1464+4C>T
|
rs1586388485
|
|
NM_000742.4(CHRNA2):c.203G>C (p.Arg68Pro)
|
rs548268816
|
|
NM_000742.4(CHRNA2):c.404T>G (p.Val135Gly)
|
rs1563321069
|
|
NM_000742.4(CHRNA2):c.500C>T (p.Ser167Phe)
|
rs1812616489
|
|
NM_000806.5(GABRA1):c.-438del
|
rs112361424
|
|
NM_000806.5(GABRA1):c.-442dup
|
rs201310567
|
|
NM_000816.3(GABRG2):c.-241A>C
|
rs886060377
|
|
NM_000816.3(GABRG2):c.-268C>A
|
rs886060375
|
|
NM_001077350.3(NPRL3):c.1648G>A (p.Val550Met)
|
rs188724206
|
|
NM_001122752.2(SERPINI1):c.*172T>A
|
rs886058170
|
|
NM_001122752.2(SERPINI1):c.*87A>G
|
rs1712486520
|
|
NM_001122752.2(SERPINI1):c.-19+22G>T
|
rs1559989168
|
|
NM_001122752.2(SERPINI1):c.-19+48C>T
|
rs886058167
|
|
NM_001122752.2(SERPINI1):c.-19+6C>T
|
rs562830304
|
|
NM_001122752.2(SERPINI1):c.-84GGAGC[3]
|
rs886058165
|
|
NM_001122752.2(SERPINI1):c.1067-6C>T
|
rs759360650
|
|
NM_001122752.2(SERPINI1):c.161C>T (p.Ala54Val)
|
rs769948709
|
|
NM_001122752.2(SERPINI1):c.410A>G (p.Asn137Ser)
|
rs886058168
|
|
NM_001122752.2(SERPINI1):c.524C>T (p.Ala175Val)
|
rs1727567949
|
|
NM_001122752.2(SERPINI1):c.959C>G (p.Ala320Gly)
|
rs886058169
|
|
NM_001122752.2(SERPINI1):c.95A>G (p.Asn32Ser)
|
rs1172732406
|
|
NM_001127644.2(GABRA1):c.*304del
|
rs547262225
|
|
NM_001127644.2(GABRA1):c.-117GACTCG[3]
|
rs527890421
|
|
NM_001127644.2(GABRA1):c.1290A>G (p.Leu430=)
|
rs886060361
|
|
NM_001134407.3(GRIN2A):c.*1058T>A
|
rs886052546
|
|
NM_001134407.3(GRIN2A):c.*1080C>T
|
rs908516344
|
|
NM_001134407.3(GRIN2A):c.*1139C>G
|
rs1900605780
|
|
NM_001134407.3(GRIN2A):c.*132T>C
|
rs1900654710
|
|
NM_001134407.3(GRIN2A):c.*1432del
|
rs569463295
|
|
NM_001134407.3(GRIN2A):c.*1472C>T
|
rs901139151
|
|
NM_001134407.3(GRIN2A):c.*1475G>C
|
rs1900587816
|
|
NM_001134407.3(GRIN2A):c.*1535C>T
|
rs886052545
|
|
NM_001134407.3(GRIN2A):c.*1539T>G
|
rs886052544
|
|
NM_001134407.3(GRIN2A):c.*1806G>A
|
rs886052543
|
|
NM_001134407.3(GRIN2A):c.*1862G>A
|
rs1900570922
|
|
NM_001134407.3(GRIN2A):c.*2556C>T
|
rs886052541
|
|
NM_001134407.3(GRIN2A):c.*268G>A
|
rs886052553
|
|
NM_001134407.3(GRIN2A):c.*2771_*2774dup
|
rs35189803
|
|
NM_001134407.3(GRIN2A):c.*2773_*2774dup
|
rs35189803
|
|
NM_001134407.3(GRIN2A):c.*2775_*2776insA
|
rs886052539
|
|
NM_001134407.3(GRIN2A):c.*2835C>T
|
rs886052538
|
|
NM_001134407.3(GRIN2A):c.*286A>G
|
rs886052552
|
|
NM_001134407.3(GRIN2A):c.*29G>A
|
rs1273875562
|
|
NM_001134407.3(GRIN2A):c.*3166C>T
|
rs886052537
|
|
NM_001134407.3(GRIN2A):c.*3341T>C
|
rs576585646
|
|
NM_001134407.3(GRIN2A):c.*3396T>G
|
rs886052536
|
|
NM_001134407.3(GRIN2A):c.*3437C>T
|
rs1900495330
|
|
NM_001134407.3(GRIN2A):c.*3523C>A
|
rs559488090
|
|
NM_001134407.3(GRIN2A):c.*3543G>C
|
rs886052535
|
|
NM_001134407.3(GRIN2A):c.*3982C>T
|
rs1900476940
|
|
NM_001134407.3(GRIN2A):c.*4097G>A
|
rs1900471744
|
|
NM_001134407.3(GRIN2A):c.*4415T>C
|
rs1900458100
|
|
NM_001134407.3(GRIN2A):c.*4462A>G
|
rs1900456163
|
|
NM_001134407.3(GRIN2A):c.*5109G>C
|
rs886052534
|
|
NM_001134407.3(GRIN2A):c.*5248G>A
|
rs1451890952
|
|
NM_001134407.3(GRIN2A):c.*542_*544del
|
rs760275969
|
|
NM_001134407.3(GRIN2A):c.*545G>C
|
rs886052551
|
|
NM_001134407.3(GRIN2A):c.*5775dup
|
rs202247656
|
|
NM_001134407.3(GRIN2A):c.*5790del
|
rs74985384
|
|
NM_001134407.3(GRIN2A):c.*6013T>C
|
rs532316934
|
|
NM_001134407.3(GRIN2A):c.*6042A>C
|
rs780823999
|
|
NM_001134407.3(GRIN2A):c.*6180G>A
|
rs961703607
|
|
NM_001134407.3(GRIN2A):c.*650C>G
|
rs886052549
|
|
NM_001134407.3(GRIN2A):c.*6528A>G
|
rs1380116191
|
|
NM_001134407.3(GRIN2A):c.*6599T>C
|
rs886052530
|
|
NM_001134407.3(GRIN2A):c.*6659G>A
|
rs886052529
|
|
NM_001134407.3(GRIN2A):c.*6685G>C
|
rs1567268666
|
|
NM_001134407.3(GRIN2A):c.*6750T>C
|
rs1420959204
|
|
NM_001134407.3(GRIN2A):c.*6760G>A
|
rs886052528
|
|
NM_001134407.3(GRIN2A):c.*6774T>A
|
rs1900349387
|
|
NM_001134407.3(GRIN2A):c.*678G>A
|
rs886052548
|
|
NM_001134407.3(GRIN2A):c.*6897del
|
rs886052527
|
|
NM_001134407.3(GRIN2A):c.*6932T>C
|
rs1900343585
|
|
NM_001134407.3(GRIN2A):c.*7009CA[9]
|
rs113553391
|
|
NM_001134407.3(GRIN2A):c.*7112A>C
|
rs143274147
|
|
NM_001134407.3(GRIN2A):c.*7278G>T
|
rs886052524
|
|
NM_001134407.3(GRIN2A):c.*7293del
|
rs58903398
|
|
NM_001134407.3(GRIN2A):c.*7379A>G
|
rs886052522
|
|
NM_001134407.3(GRIN2A):c.*8156A>G
|
rs886052519
|
|
NM_001134407.3(GRIN2A):c.*815G>A
|
rs1266556633
|
|
NM_001134407.3(GRIN2A):c.*8626G>C
|
rs886052515
|
|
NM_001134407.3(GRIN2A):c.*8781G>A
|
rs886052514
|
|
NM_001134407.3(GRIN2A):c.*9207G>A
|
rs886052513
|
|
NM_001134407.3(GRIN2A):c.*9255C>G
|
rs1900261434
|
|
NM_001134407.3(GRIN2A):c.*9392T>C
|
rs970217798
|
|
NM_001134407.3(GRIN2A):c.-34C>G
|
rs564039694
|
|
NM_001134407.3(GRIN2A):c.-66C>A
|
rs956482196
|
|
NM_001134407.3(GRIN2A):c.1013T>A (p.Met338Lys)
|
rs2043686499
|
|
NM_001134407.3(GRIN2A):c.1128C>T (p.Gly376=)
|
rs2042854084
|
|
NM_001134407.3(GRIN2A):c.125A>G (p.His42Arg)
|
rs2050238895
|
|
NM_001134407.3(GRIN2A):c.1263C>T (p.Asp421=)
|
rs781215527
|
|
NM_001134407.3(GRIN2A):c.1317C>G (p.Phe439Leu)
|
rs752012396
|
|
NM_001134407.3(GRIN2A):c.1326C>G (p.Ile442Met)
|
rs2042847762
|
|
NM_001134407.3(GRIN2A):c.1498-14_1498-13del
|
rs1491547779
|
|
NM_001134407.3(GRIN2A):c.2049G>C (p.Gly683=)
|
rs1057523027
|
|
NM_001134407.3(GRIN2A):c.2572G>A (p.Gly858Arg)
|
rs1901083292
|
|
NM_001134407.3(GRIN2A):c.2595+12G>A
|
rs746566593
|
|
NM_001134407.3(GRIN2A):c.2595+3C>T
|
rs1901081977
|
|
NM_001134407.3(GRIN2A):c.2864T>C (p.Ile955Thr)
|
rs778404336
|
|
NM_001134407.3(GRIN2A):c.3504C>T (p.Asn1168=)
|
rs999523910
|
|
NM_001134407.3(GRIN2A):c.3635C>T (p.Thr1212Met)
|
rs1042202486
|
|
NM_001134407.3(GRIN2A):c.3668C>G (p.Thr1223Ser)
|
rs770966136
|
|
NM_001134407.3(GRIN2A):c.3854G>T (p.Arg1285Met)
|
rs367543132
|
|
NM_001134407.3(GRIN2A):c.568A>G (p.Thr190Ala)
|
rs886051634
|
|
NM_001134407.3(GRIN2A):c.904G>T (p.Ala302Ser)
|
rs901717931
|
|
NM_001161352.2(KCNMA1):c.*1022TTTG[1]
|
rs755720081
|
|
NM_001161352.2(KCNMA1):c.*1131C>A
|
rs2036799787
|
|
NM_001161352.2(KCNMA1):c.*1165C>T
|
rs886047262
|
|
NM_001161352.2(KCNMA1):c.*1507G>A
|
rs1430842020
|
|
NM_001161352.2(KCNMA1):c.*1739G>T
|
rs184468198
|
|
NM_001161352.2(KCNMA1):c.*1935A>G
|
rs886047260
|
|
NM_001161352.2(KCNMA1):c.*1937T>G
|
rs886047259
|
|
NM_001161352.2(KCNMA1):c.*2015TA[7]
|
rs562756117
|
|
NM_001161352.2(KCNMA1):c.*2117G>T
|
rs886047258
|
|
NM_001161352.2(KCNMA1):c.*223A>G
|
rs886047267
|
|
NM_001161352.2(KCNMA1):c.*2373dup
|
rs552322812
|
|
NM_001161352.2(KCNMA1):c.*411GTT[4]
|
rs879619415
|
|
NM_001161352.2(KCNMA1):c.*429CTTT[2]
|
rs886047266
|
|
NM_001161352.2(KCNMA1):c.*539T>C
|
rs886047265
|
|
NM_001161352.2(KCNMA1):c.*570T>C
|
rs886047264
|
|
NM_001161352.2(KCNMA1):c.*69A>G
|
rs2037466690
|
|
NM_001161352.2(KCNMA1):c.-104_-96dup
|
rs1555529241
|
|
NM_001161352.2(KCNMA1):c.-116GGC[7]
|
rs781056387
|
|
NM_001161352.2(KCNMA1):c.-131C>T
|
rs575507832
|
|
NM_001161352.2(KCNMA1):c.-57G>T
|
rs886047271
|
|
NM_001161352.2(KCNMA1):c.1131+11dup
|
rs545073914
|
|
NM_001161352.2(KCNMA1):c.144TTC[3] (p.Ser60del)
|
rs751901610
|
|
NM_001161352.2(KCNMA1):c.1593+11G>T
|
rs199674898
|
|
NM_001161352.2(KCNMA1):c.31AGC[1] (p.Ser12del)
|
rs757636988
|
|
NM_001161352.2(KCNMA1):c.49G>C (p.Gly17Arg)
|
rs886047269
|
|
NM_001242896.3(DEPDC5):c.3305C>T (p.Thr1102Ile)
|
rs528786894
|
|
NM_004287.4(GOSR2):c.-64G>T
|
rs886053076
|
|
NM_004287.5(GOSR2):c.*1105A>T
|
rs780111337
|
|
NM_004287.5(GOSR2):c.*2068C>G
|
rs886053082
|
|
NM_004287.5(GOSR2):c.*2190TC[2]
|
rs553512648
|
|
NM_004287.5(GOSR2):c.*2573G>A
|
rs886053086
|
|
NM_004287.5(GOSR2):c.*286G>T
|
rs78693564
|
|
NM_004287.5(GOSR2):c.*332A>G
|
rs886053079
|
|
NM_004287.5(GOSR2):c.*412C>A
|
rs886053080
|
|
NM_004287.5(GOSR2):c.*804A>G
|
rs886053081
|
|
NM_004287.5(GOSR2):c.-20T>G
|
rs886053077
|
|
NM_004287.5(GOSR2):c.-7C>G
|
rs760018200
|
|
NM_004287.5(GOSR2):c.363C>T (p.Asp121=)
|
rs886053078
|
|
NM_004408.4(DNM1):c.944A>G (p.Lys315Arg)
|
rs1564332523
|
|
NM_005097.4(LGI1):c.*338G>C
|
rs182654305
|
|
NM_005097.4(LGI1):c.-66G>C
|
rs886047485
|
|
NM_005097.4(LGI1):c.1125G>C (p.Ala375=)
|
rs886047487
|
|
NM_005097.4(LGI1):c.568C>T (p.His190Tyr)
|
rs1345126535
|
|
NM_005097.4(LGI1):c.818G>A (p.Arg273Gln)
|
rs750249658
|
|
NM_005097.4(LGI1):c.838+11C>T
|
rs886047486
|
|
NM_006545.5(NPRL2):c.472A>G (p.Lys158Glu)
|
rs1703653579
|
|
NM_018100.4(EFHC1):c.*1025AT[12]
|
rs59794069
|
|
NM_018100.4(EFHC1):c.*1025AT[13]
|
rs59794069
|
|
NM_018100.4(EFHC1):c.*1025AT[14]
|
rs59794069
|
|
NM_018100.4(EFHC1):c.*1025AT[19]
|
rs59794069
|
|
NM_018100.4(EFHC1):c.*1025AT[20]
|
rs59794069
|
|
NM_018100.4(EFHC1):c.*1025AT[21]
|
rs59794069
|
|
NM_018100.4(EFHC1):c.*1045delinsATATATATATATA
|
rs886061633
|
|
NM_018100.4(EFHC1):c.*1045delinsATATATATATATATATATATATATATATATATA
|
rs886061633
|
|
NM_018100.4(EFHC1):c.*1064AC[4]
|
rs886061634
|
|
NM_018100.4(EFHC1):c.*140C>T
|
rs78906153
|
|
NM_018100.4(EFHC1):c.*1481TC[1]
|
rs886061636
|
|
NM_018100.4(EFHC1):c.*1813dup
|
rs201262358
|
|
NM_018100.4(EFHC1):c.*2913G>C
|
rs886061639
|
|
NM_018100.4(EFHC1):c.*549TA[3]
|
rs886061631
|
|
NM_018100.4(EFHC1):c.*66C>G
|
rs574373324
|
|
NM_018100.4(EFHC1):c.1197T>C (p.Ala399=)
|
rs886061630
|
|
NM_018100.4(EFHC1):c.666_671del (p.Lys222_Val224delinsAsn)
|
rs886061628
|
|
NM_018100.4(EFHC1):c.800A>G (p.Tyr267Cys)
|
rs886061629
|
|
NM_020361.4(CPA6):c.-222_-220delGCT
|
rs144013159
|
|
NM_020361.5(CPA6):c.-160del
|
rs796925267
|
|
NM_020361.5(CPA6):c.-203C>T
|
rs1587747750
|
|
NM_020361.5(CPA6):c.-45C>A
|
rs767794744
|
|
NM_020361.5(CPA6):c.-87C>A
|
rs559634854
|
|
NM_020361.5(CPA6):c.109T>C (p.Tyr37His)
|
rs886063082
|
|
NM_020361.5(CPA6):c.1127-25_1127-24dup
|
rs60236534
|
|
NM_020361.5(CPA6):c.1127-25dup
|
rs60236534
|
|
NM_020361.5(CPA6):c.116+11C>A
|
rs141229869
|
|
NM_020361.5(CPA6):c.20G>A (p.Arg7His)
|
rs373565150
|
|
NM_020361.5(CPA6):c.26G>A (p.Gly9Asp)
|
rs1818003481
|
|
NM_020361.5(CPA6):c.318G>C (p.Lys106Asn)
|
rs886063081
|
|
NM_020361.5(CPA6):c.453T>C (p.His151=)
|
rs1812002711
|
|
NM_020361.5(CPA6):c.491C>T (p.Ser164Phe)
|
rs267601975
|
|
NM_020361.5(CPA6):c.538G>A (p.Gly180Ser)
|
rs886063080
|
|
NM_020361.5(CPA6):c.715A>G (p.Asn239Asp)
|
rs886063079
|
|
NM_020361.5(CPA6):c.797G>T (p.Arg266Leu)
|
rs140612122
|
|
NM_020822.3(KCNT1):c.1049T>C (p.Val350Ala)
|
rs1329791962
|
|
NM_020822.3(KCNT1):c.3544A>C (p.Ile1182Leu)
|
rs1161862851
|
|
NM_153026.3(PRICKLE1):c.*142G>A
|
rs886049374
|
|
NM_153026.3(PRICKLE1):c.*552del
|
rs68074167
|
|
NM_153033.5(KCTD7):c.*1293A>G
|
rs886062419
|
|
NM_153033.5(KCTD7):c.*1334T>C
|
rs1786692699
|
|
NM_153033.5(KCTD7):c.*1740G>A
|
rs886062420
|
|
NM_153033.5(KCTD7):c.*1911C>G
|
rs565110569
|
|
NM_153033.5(KCTD7):c.*2163C>T
|
rs375853768
|
|
NM_153033.5(KCTD7):c.*2175C>A
|
rs369221941
|
|
NM_153033.5(KCTD7):c.*2223_*2226dup
|
rs886062422
|
|
NM_153033.5(KCTD7):c.*2692A>G
|
rs573138370
|
|
NM_153033.5(KCTD7):c.*2837G>A
|
rs1786731447
|
|
NM_153033.5(KCTD7):c.*2868C>T
|
rs886062426
|
|
NM_153033.5(KCTD7):c.*2973G>A
|
rs1786735065
|
|
NM_153033.5(KCTD7):c.*354C>G
|
rs540871291
|
|
NM_153033.5(KCTD7):c.*3730C>T
|
rs1786753910
|
|
NM_153033.5(KCTD7):c.*690G>A
|
rs4718382
|
|
NM_153033.5(KCTD7):c.*860CCT[1]
|
rs886062416
|
|
NM_153033.5(KCTD7):c.-145C>G
|
rs886062409
|
|
NM_153033.5(KCTD7):c.-170G>T
|
rs191169882
|
|
NM_153033.5(KCTD7):c.-87A>C
|
rs886062411
|
|
NM_153033.5(KCTD7):c.18G>C (p.Gly6=)
|
rs886062413
|
|
NM_153033.5(KCTD7):c.291C>T (p.Ile97=)
|
rs769023482
|
|
NM_153033.5(KCTD7):c.727G>A (p.Asp243Asn)
|
rs2116775565
|
|
NM_198586.3(NHLRC1):c.*153A>T
|
rs895212001
|
|
NM_198586.3(NHLRC1):c.*175T>C
|
rs1783727115
|
|
NM_198586.3(NHLRC1):c.*248C>A
|
rs182779486
|
|
NM_198586.3(NHLRC1):c.*248C>G
|
rs182779486
|
|
NM_198586.3(NHLRC1):c.*327G>C
|
rs375143655
|
|
NM_198586.3(NHLRC1):c.*358_*361del
|
rs550375620
|
|
NM_198586.3(NHLRC1):c.*406A>G
|
rs886061251
|
|
NM_198586.3(NHLRC1):c.*662C>G
|
rs150615281
|
|
NM_198586.3(NHLRC1):c.*875T>A
|
rs72839174
|
|
NM_198586.3(NHLRC1):c.107G>A (p.Arg36Gln)
|
rs764691077
|
|
NM_198586.3(NHLRC1):c.195C>A (p.Ala65=)
|
rs370573413
|
|
NM_198586.3(NHLRC1):c.397G>A (p.Ala133Thr)
|
rs886061254
|
|
NM_198586.3(NHLRC1):c.515A>G (p.Gln172Arg)
|
rs1783745635
|
|
NM_198586.3(NHLRC1):c.541A>G (p.Thr181Ala)
|
rs886061253
|
|
NM_198859.4(PRICKLE2):c.*1157G>C
|
rs764784009
|
|
NM_198859.4(PRICKLE2):c.*1274C>T
|
rs952345194
|
|
NM_198859.4(PRICKLE2):c.*1476A>G
|
rs886058793
|
|
NM_198859.4(PRICKLE2):c.*1508A>G
|
rs2076588182
|
|
NM_198859.4(PRICKLE2):c.*1560C>T
|
rs886058792
|
|
NM_198859.4(PRICKLE2):c.*1621A>G
|
rs2076586727
|
|
NM_198859.4(PRICKLE2):c.*1647T>A
|
rs2076586208
|
|
NM_198859.4(PRICKLE2):c.*1682C>T
|
rs938048041
|
|
NM_198859.4(PRICKLE2):c.*1964C>T
|
rs886058790
|
|
NM_198859.4(PRICKLE2):c.*1970T>C
|
rs886058789
|
|
NM_198859.4(PRICKLE2):c.*2102G>A
|
rs2076579772
|
|
NM_198859.4(PRICKLE2):c.*2207C>T
|
rs886058788
|
|
NM_198859.4(PRICKLE2):c.*2288C>T
|
rs866060288
|
|
NM_198859.4(PRICKLE2):c.*2288_*2296delinsT
|
rs386661734
|
|
NM_198859.4(PRICKLE2):c.*2391C>T
|
rs184544359
|
|
NM_198859.4(PRICKLE2):c.*2666G>T
|
rs2076573078
|
|
NM_198859.4(PRICKLE2):c.*2782C>G
|
rs530804190
|
|
NM_198859.4(PRICKLE2):c.*2856C>G
|
rs886058787
|
|
NM_198859.4(PRICKLE2):c.*2980_*2981dup
|
rs759645403
|
|
NM_198859.4(PRICKLE2):c.*3065C>A
|
rs1345198796
|
|
NM_198859.4(PRICKLE2):c.*3343G>A
|
rs911667034
|
|
NM_198859.4(PRICKLE2):c.*3358T>A
|
rs2076562693
|
|
NM_198859.4(PRICKLE2):c.*3496G>A
|
rs2076560882
|
|
NM_198859.4(PRICKLE2):c.*3501C>G
|
rs1358772449
|
|
NM_198859.4(PRICKLE2):c.*3755A>T
|
rs756531877
|
|
NM_198859.4(PRICKLE2):c.*3862C>A
|
rs886058786
|
|
NM_198859.4(PRICKLE2):c.*4182T>C
|
rs2076548758
|
|
NM_198859.4(PRICKLE2):c.*4257T>C
|
rs886058783
|
|
NM_198859.4(PRICKLE2):c.*4595T>A
|
rs886058782
|
|
NM_198859.4(PRICKLE2):c.*4787T>C
|
rs886058781
|
|
NM_198859.4(PRICKLE2):c.*4861dup
|
rs571451772
|
|
NM_198859.4(PRICKLE2):c.*4877C>T
|
rs750274826
|
|
NM_198859.4(PRICKLE2):c.*580del
|
rs370988517
|
|
NM_198859.4(PRICKLE2):c.*581dup
|
rs886058797
|
|
NM_198859.4(PRICKLE2):c.*582A>T
|
rs886058796
|
|
NM_198859.4(PRICKLE2):c.*584del
|
rs886058795
|
|
NM_198859.4(PRICKLE2):c.*792dup
|
rs535354956
|
|
NM_198859.4(PRICKLE2):c.*995C>A
|
rs886058794
|
|
NM_198859.4(PRICKLE2):c.-219A>G
|
rs2079012814
|
|
NM_198859.4(PRICKLE2):c.-287A>G
|
rs867607794
|
|
NM_198859.4(PRICKLE2):c.-320A>C
|
rs886058804
|
|
NM_198859.4(PRICKLE2):c.-552G>C
|
rs2079017666
|
|
NM_198859.4(PRICKLE2):c.-573CCA[1]
|
rs886058807
|
|
NM_198859.4(PRICKLE2):c.-89G>C
|
rs901964486
|
|
NM_198859.4(PRICKLE2):c.1263G>T (p.Gln421His)
|
rs2077471398
|
|
NM_198859.4(PRICKLE2):c.1317C>T (p.Pro439=)
|
rs745530308
|
|
NM_198859.4(PRICKLE2):c.1675G>A (p.Gly559Ser)
|
rs886058799
|
|
NM_198859.4(PRICKLE2):c.1752T>A (p.Ser584=)
|
rs886058798
|
|
NM_198859.4(PRICKLE2):c.2100C>G (p.His700Gln)
|
rs2076619261
|
|
NM_198859.4(PRICKLE2):c.531A>G (p.Gln177=)
|
rs780089157
|
|
NM_198904.4(GABRG2):c.*1392A>T
|
rs886060386
|
|
NM_198904.4(GABRG2):c.*1763A>T
|
rs886060387
|
|
NM_198904.4(GABRG2):c.*1838T>A
|
rs1039081493
|
|
NM_198904.4(GABRG2):c.*1889C>A
|
rs886060388
|
|
NM_198904.4(GABRG2):c.*194G>A
|
rs758832535
|
|
NM_198904.4(GABRG2):c.*1981G>C
|
rs886060389
|
|
NM_198904.4(GABRG2):c.*250A>C
|
rs886060384
|
|
NM_198904.4(GABRG2):c.-179T>A
|
rs886060378
|
|
NM_198904.4(GABRG2):c.1425G>A (p.Leu475=)
|
rs886060383
|
|
NM_198904.4(GABRG2):c.303T>C (p.Ile101=)
|
rs1760937526
|
|
NM_198904.4(GABRG2):c.402C>G (p.Val134=)
|
rs562384157
|
|