|
NM_005045.4(RELN):c.8843+7G>C
|
rs2711885
|
0.98938
|
|
NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=)
|
rs27673
|
0.98545
|
|
NM_001077350.3(NPRL3):c.1351+75T>C
|
rs2239299
|
0.98102
|
|
NM_005097.4(LGI1):c.657T>C (p.Phe219=)
|
rs1111820
|
0.97657
|
|
NM_001242896.3(DEPDC5):c.484-43G>C
|
rs138286
|
0.97589
|
|
NM_000726.5(CACNB4):c.*5385C>T
|
rs1568673
|
0.93666
|
|
NM_004287.5(GOSR2):c.*301T>C
|
rs8078556
|
0.93627
|
|
NM_198859.4(PRICKLE2):c.*1605T>G
|
rs26938
|
0.93091
|
|
NM_198859.4(PRICKLE2):c.*2772A>G
|
rs27383
|
0.92477
|
|
NM_198859.4(PRICKLE2):c.*4733G>A
|
rs153732
|
0.90732
|
|
NM_198859.4(PRICKLE2):c.*4797G>A
|
rs153733
|
0.90729
|
|
NM_018100.4(EFHC1):c.*881A>T
|
rs6926242
|
0.90714
|
|
NM_001077350.3(NPRL3):c.548-64A>G
|
rs808892
|
0.87694
|
|
NM_018100.4(EFHC1):c.*121C>A
|
rs7757370
|
0.87583
|
|
NM_018100.4(EFHC1):c.*1180G>A
|
rs4455668
|
0.87433
|
|
NM_000744.7(CHRNA4):c.228+26A>G
|
rs6090384
|
0.86813
|
|
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=)
|
rs2229960
|
0.86626
|
|
NM_000742.4(CHRNA2):c.*1809T>C
|
rs2280375
|
0.86065
|
|
NM_000742.4(CHRNA2):c.*602T>C
|
rs2292976
|
0.85227
|
|
NM_001077350.3(NPRL3):c.1032-102A>G
|
rs2541618
|
0.84201
|
|
NM_000742.4(CHRNA2):c.*511G>C
|
rs2292977
|
0.82917
|
|
NM_001077350.3(NPRL3):c.768-53C>T
|
rs2541616
|
0.82761
|
|
NM_001161352.2(KCNMA1):c.*1957C>T
|
rs7073015
|
0.82683
|
|
NM_001134407.3(GRIN2A):c.*8535A>C
|
rs767749
|
0.80853
|
|
NM_000744.7(CHRNA4):c.678T>C (p.Cys226=)
|
rs1044394
|
0.80763
|
|
NM_032108.4(SEMA6B):c.307-31T>G
|
rs10422881
|
0.79751
|
|
NM_001134407.3(GRIN2A):c.*5818C>T
|
rs8044472
|
0.79542
|
|
NM_000744.7(CHRNA4):c.639T>C (p.Asp213=)
|
rs1044393
|
0.78554
|
|
NM_001077350.3(NPRL3):c.1545-19A>G
|
rs743725
|
0.74458
|
|
NM_020822.3(KCNT1):c.1769+16A>G
|
rs10776844
|
0.72033
|
|
NM_178013.4(PRIMA1):c.102T>C (p.His34=)
|
rs4905087
|
0.71521
|
|
NM_015973.5(GAL):c.301+16T>C
|
rs3136540
|
0.71485
|
|
NM_001492.6(GDF1):c.-1107C>G
|
rs3746263
|
0.71463
|
|
NM_018100.4(EFHC1):c.*3144T>A
|
rs3789772
|
0.70161
|
|
NM_153033.5(KCTD7):c.*944C>G
|
rs9791712
|
0.67438
|
|
NM_153033.5(KCTD7):c.*2656A>G
|
rs1860469
|
0.67430
|
|
NM_153033.5(KCTD7):c.*979C>A
|
rs9791713
|
0.67429
|
|
NM_020361.4(CPA6):c.-269G>A
|
rs2553663
|
0.65179
|
|
NM_020822.3(KCNT1):c.2427G>A (p.Thr809=)
|
rs914428
|
0.64398
|
|
NM_005670.4(EPM2A):c.159C>G (p.Ala53=)
|
rs2235482
|
0.63686
|
|
NM_001242896.3(DEPDC5):c.1666+214A>C
|
rs5749334
|
0.62803
|
|
NM_000744.7(CHRNA4):c.*534C>T
|
rs2236196
|
0.62296
|
|
NM_015973.5(GAL):c.*15T>C
|
rs1042577
|
0.61580
|
|
NM_032737.4(LMNB2):c.1416T>C (p.Gly472=)
|
rs11084940
|
0.59479
|
|
NM_000742.4(CHRNA2):c.373A>G (p.Thr125Ala)
|
rs891398
|
0.58886
|
|
NM_178013.4(PRIMA1):c.420G>A (p.Ser140=)
|
rs1887197
|
0.58297
|
|
NM_020822.3(KCNT1):c.600+59A>C
|
rs59909130
|
0.57178
|
|
NM_001161352.2(KCNMA1):c.2015+37C>T
|
rs16934182
|
0.55282
|
|
NM_198859.4(PRICKLE2):c.*695A>C
|
rs26937
|
0.54681
|
|
NM_032108.4(SEMA6B):c.1601+24C>T
|
rs4807602
|
0.54013
|
|
NM_153033.5(KCTD7):c.-44C>T
|
rs35526611
|
0.51674
|
|
NM_006922.4(SCN3A):c.2031A>T (p.Thr677=)
|
rs1946892
|
0.51537
|
|
NM_153033.5(KCTD7):c.*3033T>C
|
rs1860468
|
0.51466
|
|
NM_020822.3(KCNT1):c.600+60G>A
|
rs56375931
|
0.51258
|
|
NM_005045.4(RELN):c.8046T>C (p.His2682=)
|
rs2229864
|
0.49951
|
|
NM_001161352.2(KCNMA1):c.*1571C>T
|
rs10762733
|
0.49921
|
|
NM_005045.4(RELN):c.578-3T>C
|
rs607755
|
0.49658
|
|
NM_004287.5(GOSR2):c.*2337T>C
|
rs1052586
|
0.48306
|
|
NM_020822.3(KCNT1):c.434+25C>A
|
rs10122976
|
0.47340
|
|
NM_018023.5(YEATS2):c.3582+10A>G
|
rs263042
|
0.46511
|
|
NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=)
|
rs3747562
|
0.45408
|
|
NM_004287.5(GOSR2):c.*1519T>C
|
rs4968286
|
0.44908
|
|
NM_018023.5(YEATS2):c.537+48_537+49insG
|
rs3841649
|
0.44331
|
|
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=)
|
rs1131824
|
0.43499
|
|
NM_032108.4(SEMA6B):c.39G>C (p.Leu13=)
|
rs2304213
|
0.42756
|
|
NM_000742.4(CHRNA2):c.*1701C>A
|
rs1057137
|
0.42655
|
|
NM_004287.5(GOSR2):c.*1733A>G
|
rs758392
|
0.41414
|
|
NM_000742.4(CHRNA2):c.*1159T>C
|
rs1560344
|
0.41008
|
|
NM_001134407.3(GRIN2A):c.*6128A>G
|
rs9933624
|
0.40853
|
|
NM_001134407.3(GRIN2A):c.*6609T>C
|
rs1420040
|
0.40787
|
|
NM_000742.4(CHRNA2):c.*755G>A
|
rs2292974
|
0.40756
|
|
NM_000742.4(CHRNA2):c.*721G>T
|
rs2292975
|
0.40648
|
|
NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=)
|
rs1044397
|
0.40553
|
|
NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=)
|
rs1044396
|
0.40465
|
|
NM_032108.4(SEMA6B):c.1454+30G>T
|
rs10853972
|
0.40419
|
|
NM_001134407.3(GRIN2A):c.*6149C>G
|
rs9940680
|
0.40187
|
|
NM_000726.5(CACNB4):c.*442G>A
|
rs7597215
|
0.39502
|
|
NM_018023.5(YEATS2):c.1588G>A (p.Val530Ile)
|
rs262993
|
0.38998
|
|
NM_001161352.2(KCNMA1):c.602+12634G>T
|
rs553199
|
0.38855
|
|
NM_004287.5(GOSR2):c.*1115G>A
|
rs758391
|
0.38725
|
|
NM_005076.5(CNTN2):c.1097C>T (p.Pro366Leu)
|
rs2229866
|
0.36917
|
|
NM_018100.4(EFHC1):c.*3406T>C
|
rs6919266
|
0.36710
|
|
NM_198859.4(PRICKLE2):c.*3491A>G
|
rs153730
|
0.35921
|
|
NM_198859.4(PRICKLE2):c.259-6A>G
|
rs2306380
|
0.35289
|
|
NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu)
|
rs10949483
|
0.35277
|
|
NM_001134407.3(GRIN2A):c.*5884G>A
|
rs8045712
|
0.35178
|
|
NM_001134407.3(GRIN2A):c.*2617G>C
|
rs62034910
|
0.35138
|
|
NM_001134407.3(GRIN2A):c.*1212C>T
|
rs1014531
|
0.34041
|
|
NM_001134407.3(GRIN2A):c.2085G>C (p.Arg695=)
|
rs9806806
|
0.33435
|
|
NM_198859.4(PRICKLE2):c.*1763G>A
|
rs26939
|
0.33203
|
|
NM_000726.5(CACNB4):c.*3804G>C
|
rs2344734
|
0.33115
|
|
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys)
|
rs197922
|
0.32616
|
|
NM_153026.3(PRICKLE1):c.1899T>C (p.Phe633=)
|
rs3747563
|
0.32044
|
|
NM_020822.3(KCNT1):c.1749G>A (p.Ala583=)
|
rs17038714
|
0.29915
|
|
NM_005076.5(CNTN2):c.2628C>T (p.Ser876=)
|
rs2229868
|
0.29618
|
|
NM_020822.3(KCNT1):c.254+20T>C
|
rs2385007
|
0.27844
|
|
NM_001134407.3(GRIN2A):c.1275G>A (p.Leu425=)
|
rs2229193
|
0.27838
|
|
NC_000003.12:g.167735203T>C
|
rs11714980
|
0.27020
|
|
NM_001099403.2(PRDM8):c.1980G>C (p.Arg660=)
|
rs12780
|
0.26373
|
|
NM_020361.5(CPA6):c.133T>C (p.Phe45Leu)
|
rs10957393
|
0.25907
|
|
NM_001492.6(GDF1):c.-1089T>C
|
rs113536478
|
0.25589
|
|
NM_198859.4(PRICKLE2):c.579G>A (p.Pro193=)
|
rs17720698
|
0.24032
|
|
NM_020822.3(KCNT1):c.1200+12T>G
|
rs58604946
|
0.23256
|
|
NM_000742.4(CHRNA2):c.*1384C>T
|
rs2280376
|
0.23196
|
|
NM_006922.4(SCN3A):c.695-46A>G
|
rs9333576
|
0.22613
|
|
NM_006922.4(SCN3A):c.602+9C>T
|
rs7579000
|
0.22520
|
|
NM_006922.4(SCN3A):c.968-20G>T
|
rs11887309
|
0.22426
|
|
NM_006922.4(SCN3A):c.1441C>T (p.Leu481=)
|
rs16850131
|
0.21998
|
|
NM_006922.4(SCN3A):c.1381-34G>A
|
rs58539679
|
0.21988
|
|
NM_005097.4(LGI1):c.674-18T>C
|
rs1108877
|
0.21834
|
|
NM_005506.4(SCARB2):c.1113+14T>A
|
rs35369082
|
0.21009
|
|
NM_000744.7(CHRNA4):c.1758+14A>G
|
rs3827020
|
0.19437
|
|
NM_018100.4(EFHC1):c.*2972C>G
|
rs9367485
|
0.18894
|
|
NM_018100.4(EFHC1):c.573+10A>G
|
rs9349626
|
0.18650
|
|
NM_198859.4(PRICKLE2):c.*2797A>T
|
rs35969433
|
0.18557
|
|
NM_005670.4(EPM2A):c.402G>A (p.Gly134=)
|
rs35230590
|
0.18342
|
|
NM_018100.4(EFHC1):c.*1490C>A
|
rs2397092
|
0.18321
|
|
NM_198859.4(PRICKLE2):c.-557C>T
|
rs697287
|
0.17712
|
|
NM_000742.4(CHRNA2):c.351C>T (p.Asp117=)
|
rs2565061
|
0.17492
|
|
NM_005045.4(RELN):c.10074A>G (p.Ala3358=)
|
rs1062831
|
0.17444
|
|
NM_005076.5(CNTN2):c.433G>A (p.Ala145Thr)
|
rs2275697
|
0.17435
|
|
NM_018100.4(EFHC1):c.*2419A>G
|
rs9474228
|
0.17191
|
|
NM_005045.4(RELN):c.7887T>C (p.Pro2629=)
|
rs56345626
|
0.17070
|
|
NM_020822.3(KCNT1):c.2008+21G>A
|
rs7869884
|
0.16982
|
|
NM_001122752.2(SERPINI1):c.-19+92G>A
|
rs9835352
|
0.16968
|
|
NM_198859.4(PRICKLE2):c.*1310C>T
|
rs17069879
|
0.16935
|
|
NM_000742.4(CHRNA2):c.65C>T (p.Thr22Ile)
|
rs2472553
|
0.16614
|
|
NM_006922.4(SCN3A):c.2547A>C (p.Val849=)
|
rs62174900
|
0.16330
|
|
NR_110634.1(LOC100130587):n.219C>T
|
rs6122429
|
0.15920
|
|
NM_000742.4(CHRNA2):c.-563T>A
|
rs2565060
|
0.15796
|
|
NM_198859.4(PRICKLE2):c.*2891C>T
|
rs34723451
|
0.15467
|
|
NM_198859.4(PRICKLE2):c.*2724C>A
|
rs12494731
|
0.14074
|
|
NM_001161352.2(KCNMA1):c.*488C>A
|
rs2116830
|
0.13876
|
|
NM_001122752.2(SERPINI1):c.51A>G (p.Thr17=)
|
rs34582040
|
0.13147
|
|
NM_001122752.2(SERPINI1):c.21C>G (p.Phe7Leu)
|
rs33917740
|
0.13145
|
|
NM_001122752.2(SERPINI1):c.576G>A (p.Ser192=)
|
rs2229697
|
0.13143
|
|
NM_020822.3(KCNT1):c.2944-19T>C
|
rs759060806
|
0.12219
|
|
NM_153033.5(KCTD7):c.493+18_493+21dup
|
rs57580125
|
0.11765
|
|
NM_000726.5(CACNB4):c.*1185T>C
|
rs13410490
|
0.11625
|
|
NM_001242896.3(DEPDC5):c.1323A>C (p.Thr441=)
|
rs5998135
|
0.11421
|
|
NM_020361.5(CPA6):c.746A>G (p.Asn249Ser)
|
rs17343819
|
0.11318
|
|
NM_004287.5(GOSR2):c.*2292C>T
|
rs79673308
|
0.10999
|
|
NM_198586.3(NHLRC1):c.312T>C (p.His104=)
|
rs115931931
|
0.10897
|
|
NM_000748.3(CHRNB2):c.210+9A>G
|
rs3926124
|
0.10829
|
|
NM_001242896.3(DEPDC5):c.2170+11G>A
|
rs55645350
|
0.10718
|
|
NM_005506.4(SCARB2):c.424-43T>C
|
rs894248
|
0.10549
|
|
NM_153033.5(KCTD7):c.*3752C>G
|
rs73133851
|
0.10548
|
|
NM_005045.4(RELN):c.2989C>G (p.Leu997Val)
|
rs362691
|
0.10133
|
|
NM_005076.5(CNTN2):c.2431+20C>A
|
rs4951165
|
0.10123
|
|
NM_032108.4(SEMA6B):c.772-22G>A
|
rs45579944
|
0.09881
|
|
NM_001492.6(GDF1):c.-422-11C>T
|
rs2075762
|
0.09802
|
|
NM_000726.5(CACNB4):c.*1186G>T
|
rs72868010
|
0.09750
|
|
NM_153033.5(KCTD7):c.*2805C>T
|
rs1267818
|
0.09731
|
|
NM_005045.4(RELN):c.1776A>G (p.Glu592=)
|
rs2072403
|
0.09661
|
|
NM_000744.7(CHRNA4):c.189C>T (p.Leu63=)
|
rs2273506
|
0.09394
|
|
NM_018100.4(EFHC1):c.*871C>G
|
rs78956562
|
0.09084
|
|
NM_004287.5(GOSR2):c.*1067G>A
|
rs11874
|
0.08663
|
|
NM_153033.5(KCTD7):c.267G>A (p.Thr89=)
|
rs3764904
|
0.08655
|
|
NM_198586.3(NHLRC1):c.*621T>A
|
rs10949481
|
0.08640
|
|
NM_018100.4(EFHC1):c.*3192G>A
|
rs3789771
|
0.08613
|
|
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr)
|
rs1266787
|
0.07947
|
|
NM_018941.4(CLN8):c.544-227A>G
|
rs3935479
|
0.07779
|
|
NM_000748.3(CHRNB2):c.1338+14G>T
|
rs4845378
|
0.07732
|
|
NM_198859.4(PRICKLE2):c.*2447G>A
|
rs56262708
|
0.07615
|
|
NM_018941.4(CLN8):c.544-124T>C
|
rs12546965
|
0.07202
|
|
NM_198586.3(NHLRC1):c.*336G>A
|
rs10949482
|
0.06918
|
|
NM_000742.4(CHRNA2):c.-561A>T
|
rs111661898
|
0.06819
|
|
NM_001099403.2(PRDM8):c.987G>T (p.Leu329=)
|
rs6831357
|
0.06687
|
|
NM_020361.5(CPA6):c.518C>G (p.Ser173Cys)
|
rs17853192
|
0.06550
|
|
NM_198859.4(PRICKLE2):c.984C>T (p.Asn328=)
|
rs34460293
|
0.06381
|
|
NM_018100.4(EFHC1):c.1855A>C (p.Ile619Leu)
|
rs17851770
|
0.06310
|
|
NM_198586.3(NHLRC1):c.*626C>T
|
rs10949480
|
0.06100
|
|
NM_000744.7(CHRNA4):c.51G>A (p.Leu17=)
|
rs79739740
|
0.05992
|
|
NM_005045.4(RELN):c.6702T>C (p.Cys2234=)
|
rs2075043
|
0.05938
|
|
NM_000726.5(CACNB4):c.1239G>A (p.Leu413=)
|
rs1805028
|
0.05818
|
|
NM_000726.5(CACNB4):c.762T>A (p.Ile254=)
|
rs61736804
|
0.05586
|
|
NM_000742.3(CHRNA2):c.-578A>G
|
rs3138834
|
0.05486
|
|
NM_018100.4(EFHC1):c.545G>A (p.Arg182His)
|
rs3804505
|
0.05453
|
|
NM_005076.5(CNTN2):c.3070G>A (p.Val1024Ile)
|
rs17416074
|
0.05322
|
|
NM_001134407.3(GRIN2A):c.*2803A>G
|
rs16966263
|
0.05252
|
|
NM_000726.5(CACNB4):c.*5029T>C
|
rs16830412
|
0.05230
|
|
NM_005076.5(CNTN2):c.297C>T (p.Asn99=)
|
rs9787172
|
0.05116
|
|
NM_001099403.2(PRDM8):c.762C>T (p.Ser254=)
|
rs142234659
|
0.05105
|
|
NM_000726.5(CACNB4):c.*890G>C
|
rs78697588
|
0.04885
|
|
NM_005506.4(SCARB2):c.48G>C (p.Leu16=)
|
rs72857097
|
0.04875
|
|
NM_005076.5(CNTN2):c.486A>C (p.Pro162=)
|
rs114050151
|
0.04775
|
|
NM_000742.4(CHRNA2):c.-565T>A
|
rs879442926
|
0.04553
|
|
NM_005045.4(RELN):c.8136A>G (p.Leu2712=)
|
rs3808039
|
0.04529
|
|
NM_018100.3(EFHC1):c.-195A>G
|
rs2296196
|
0.04417
|
|
NM_000744.7(CHRNA4):c.1758+11C>T
|
rs45442394
|
0.04350
|
|
NM_153033.5(KCTD7):c.*2080A>G
|
rs73702140
|
0.04327
|
|
NM_000756.2(CRH):c.-669C>A
|
rs12721510
|
0.04273
|
|
NM_005045.4(RELN):c.4588+14T>C
|
rs362810
|
0.04203
|
|
NM_198859.4(PRICKLE2):c.*1589G>A
|
rs62249882
|
0.04161
|
|
NM_000742.4(CHRNA2):c.*1003G>A
|
rs74974243
|
0.04107
|
|
NM_001099403.2(PRDM8):c.1726C>T (p.Leu576=)
|
rs28405693
|
0.04102
|
|
NM_005045.4(RELN):c.1596G>A (p.Gln532=)
|
rs41276154
|
0.04078
|
|
NM_001134407.3(GRIN2A):c.*6906T>G
|
rs17791953
|
0.03996
|
|
NM_018100.4(EFHC1):c.*1024C>T
|
rs372975445
|
0.03953
|
|
NM_001242896.3(DEPDC5):c.1472G>C (p.Ser491Thr)
|
rs8138516
|
0.03859
|
|
NM_005045.4(RELN):c.8508C>T (p.Phe2836=)
|
rs2229862
|
0.03751
|
|
NM_005076.5(CNTN2):c.1309C>G (p.Leu437Val)
|
rs79431021
|
0.03702
|
|
NM_000726.5(CACNB4):c.*4771G>A
|
rs80248494
|
0.03690
|
|
NM_004287.5(GOSR2):c.*1062A>T
|
rs16941324
|
0.03601
|
|
NM_153033.5(KCTD7):c.*1727G>C
|
rs17229513
|
0.03560
|
|
NM_000100.3(CSTB):c.-54C>T
|
rs59649299
|
0.03508
|
|
NM_001134407.3(GRIN2A):c.1008-16C>G
|
rs9932916
|
0.03409
|
|
NM_005045.4(RELN):c.7530C>T (p.Pro2510=)
|
rs2075038
|
0.03404
|
|
NM_001134407.3(GRIN2A):c.*2017C>G
|
rs112151383
|
0.03330
|
|
NM_001242896.3(DEPDC5):c.885A>G (p.Gln295=)
|
rs16989495
|
0.03316
|
|
NM_001242896.3(DEPDC5):c.364-10C>T
|
rs116263417
|
0.03313
|
|
NM_005045.4(RELN):c.5351+3A>G
|
rs6967725
|
0.03307
|
|
NM_001161352.2(KCNMA1):c.2710-8T>C
|
rs78672251
|
0.03213
|
|
NM_153026.3(PRICKLE1):c.585C>T (p.Asp195=)
|
rs74081707
|
0.03104
|
|
NM_001112741.2(KCNC1):c.72G>A (p.Ser24=)
|
rs76929858
|
0.03099
|
|
NM_004287.5(GOSR2):c.*1655A>G
|
rs116123534
|
0.03006
|
|
NM_020361.5(CPA6):c.*328A>G
|
rs3395
|
0.02890
|
|
NM_001134407.3(GRIN2A):c.*1385C>A
|
rs113843373
|
0.02837
|
|
NM_018100.4(EFHC1):c.*2164G>A
|
rs59722297
|
0.02831
|
|
NM_000742.4(CHRNA2):c.*623G>A
|
rs79796894
|
0.02803
|
|
NM_000742.4(CHRNA2):c.*1480C>T
|
rs113471592
|
0.02800
|
|
NM_000742.4(CHRNA2):c.*936C>T
|
rs112587531
|
0.02798
|
|
NM_000726.5(CACNB4):c.*1656T>C
|
rs62174451
|
0.02784
|
|
NM_000726.5(CACNB4):c.*3157T>A
|
rs10497086
|
0.02768
|
|
NM_001242896.3(DEPDC5):c.1922C>T (p.Ala641Val)
|
rs16989528
|
0.02752
|
|
NM_198859.4(PRICKLE2):c.*2567A>T
|
rs62249881
|
0.02734
|
|
NM_001134407.3(GRIN2A):c.*8978G>C
|
rs79818496
|
0.02700
|
|
NM_020822.3(KCNT1):c.978A>G (p.Pro326=)
|
rs61739517
|
0.02678
|
|
NM_001134407.3(GRIN2A):c.*4739T>C
|
rs111346223
|
0.02592
|
|
NM_001242896.3(DEPDC5):c.1095T>C (p.Asp365=)
|
rs79070552
|
0.02578
|
|
NM_020822.3(KCNT1):c.1036-15G>A
|
rs112341167
|
0.02567
|
|
NM_005506.4(SCARB2):c.1186G>A (p.Val396Ile)
|
rs2228380
|
0.02529
|
|
NM_153033.5(KCTD7):c.*708C>T
|
rs79736939
|
0.02502
|
|
NM_005045.4(RELN):c.5831T>G (p.Phe1944Cys)
|
rs77664442
|
0.02460
|
|
NM_001242896.3(DEPDC5):c.2241C>G (p.Leu747=)
|
rs16989537
|
0.02410
|
|
NM_198859.4(PRICKLE2):c.*3333T>C
|
rs72874609
|
0.02403
|
|
NM_001242896.3(DEPDC5):c.2135C>T (p.Ser712Phe)
|
rs16989535
|
0.02396
|
|
NM_001242896.3(DEPDC5):c.3358A>G (p.Met1120Val)
|
rs61731662
|
0.02356
|
|
NM_005045.4(RELN):c.6672-15G>A
|
rs73418565
|
0.02349
|
|
NM_005097.4(LGI1):c.657= (p.Phe219=)
|
rs1111820
|
0.02343
|
|
NM_005045.4(RELN):c.1888A>C (p.Ser630Arg)
|
rs115734214
|
0.02229
|
|
NM_001134407.3(GRIN2A):c.*3721T>C
|
rs16966262
|
0.02182
|
|
NM_001077350.3(NPRL3):c.1041G>A (p.Pro347=)
|
rs1128426
|
0.02170
|
|
NM_001134407.3(GRIN2A):c.*5775T>A
|
rs9933772
|
0.02051
|
|
NM_005045.4(RELN):c.26A>C (p.Gln9Pro)
|
rs115165703
|
0.02037
|
|
NM_001134407.3(GRIN2A):c.1329-8C>T
|
rs7193290
|
0.01998
|
|
NM_001242896.3(DEPDC5):c.1165C>T (p.Arg389Cys)
|
rs41311139
|
0.01988
|
|
NM_001134407.3(GRIN2A):c.*121G>T
|
rs75272984
|
0.01949
|
|
NM_000744.7(CHRNA4):c.1759-14G>A
|
rs45440192
|
0.01945
|
|
NM_001099403.2(PRDM8):c.1683C>T (p.Ser561=)
|
rs150632206
|
0.01930
|
|
NM_032737.4(LMNB2):c.55G>A (p.Ala19Thr)
|
rs3764582
|
0.01929
|
|
NM_005045.4(RELN):c.7110T>C (p.Val2370=)
|
rs362746
|
0.01926
|
|
NM_005045.4(RELN):c.4589-8T>G
|
rs362801
|
0.01890
|
|
NM_001134407.3(GRIN2A):c.*5942G>A
|
rs16966255
|
0.01879
|
|
NM_004287.5(GOSR2):c.*2342A>G
|
rs61745471
|
0.01873
|
|
NM_001134407.3(GRIN2A):c.*6452G>A
|
rs74011019
|
0.01868
|
|
NM_001161352.2(KCNMA1):c.1578G>T (p.Leu526=)
|
rs74140280
|
0.01852
|
|
NM_005045.4(RELN):c.6672-16C>T
|
rs79610318
|
0.01836
|
|
NM_000100.4(CSTB):c.15G>T (p.Ala5=)
|
rs4533
|
0.01826
|
|
NM_000748.2(CHRNB2):c.-296G>A
|
rs2072658
|
0.01801
|
|
NM_001099403.2(PRDM8):c.1314C>T (p.Ala438=)
|
rs188061449
|
0.01796
|
|
NM_000742.4(CHRNA2):c.1324C>T (p.Leu442=)
|
rs56298562
|
0.01760
|
|
NM_001161352.2(KCNMA1):c.2391T>C (p.Asp797=)
|
rs77280228
|
0.01731
|
|
NM_000726.5(CACNB4):c.*2885T>C
|
rs116457978
|
0.01717
|
|
NM_001134407.3(GRIN2A):c.*6282T>A
|
rs16966252
|
0.01699
|
|
NM_000726.5(CACNB4):c.*2163G>A
|
rs80306085
|
0.01698
|
|
NM_198859.4(PRICKLE2):c.1551G>A (p.Gln517=)
|
rs116353694
|
0.01695
|
|
NM_000100.4(CSTB):c.*74T>C
|
rs6385
|
0.01682
|
|
NM_153033.5(KCTD7):c.*880T>C
|
rs117143942
|
0.01621
|
|
NM_005045.4(RELN):c.10182-11G>A
|
rs57844600
|
0.01613
|
|
NM_005045.4(RELN):c.8950+16G>A
|
rs76565991
|
0.01546
|
|
NM_001077350.3(NPRL3):c.550A>C (p.Asn184His)
|
rs73478320
|
0.01540
|
|
NM_198586.3(NHLRC1):c.*237T>C
|
rs73379118
|
0.01527
|
|
NM_198586.3(NHLRC1):c.*85T>A
|
rs73379121
|
0.01526
|
|
NM_153033.4(KCTD7):c.*3961C>T
|
rs144713969
|
0.01510
|
|
NM_005045.4(RELN):c.2932A>G (p.Thr978Ala)
|
rs3025962
|
0.01491
|
|
NM_001134407.3(GRIN2A):c.*5776A>T
|
rs78296872
|
0.01461
|
|
NM_001077350.3(NPRL3):c.180C>T (p.Gly60=)
|
rs75187722
|
0.01456
|
|
NM_198586.3(NHLRC1):c.*276G>C
|
rs11966748
|
0.01453
|
|
NM_020822.3(KCNT1):c.3502+16G>A
|
rs112116686
|
0.01447
|
|
NM_020822.3(KCNT1):c.2943+6C>T
|
rs28612938
|
0.01429
|
|
NM_001134407.3(GRIN2A):c.*490G>A
|
rs9937910
|
0.01423
|
|
NM_001242896.3(DEPDC5):c.4512C>T (p.His1504=)
|
rs146449468
|
0.01383
|
|
NM_005045.4(RELN):c.9903C>T (p.Tyr3301=)
|
rs73714404
|
0.01371
|
|
NM_001134407.3(GRIN2A):c.*8077T>G
|
rs16966243
|
0.01351
|
|
NM_005076.5(CNTN2):c.391+12G>A
|
rs16855012
|
0.01337
|
|
NM_153033.5(KCTD7):c.654C>T (p.Asp218=)
|
rs117194263
|
0.01331
|
|
NM_001242896.3(DEPDC5):c.2481G>A (p.Pro827=)
|
rs61731664
|
0.01330
|
|
NM_000742.4(CHRNA2):c.913C>T (p.Leu305=)
|
rs114294066
|
0.01308
|
|
NM_001242896.3(DEPDC5):c.3696+18G>A
|
rs9621356
|
0.01290
|
|
NM_001134407.3(GRIN2A):c.*9517T>C
|
rs16966242
|
0.01287
|
|
NM_001134407.3(GRIN2A):c.*8536_*8537insC
|
rs59371229
|
0.01284
|
|
NM_001134407.3(GRIN2A):c.*9692A>G
|
rs58340432
|
0.01284
|
|
NM_001161352.2(KCNMA1):c.*321C>T
|
rs7078702
|
0.01265
|
|
NM_005076.5(CNTN2):c.178G>A (p.Ala60Thr)
|
rs12076297
|
0.01264
|
|
NM_000742.4(CHRNA2):c.771C>T (p.Tyr257=)
|
rs56229264
|
0.01257
|
|
NM_000100.4(CSTB):c.*93A>G
|
rs9446
|
0.01254
|
|
NM_020822.3(KCNT1):c.2210C>T (p.Thr737Met)
|
rs61744696
|
0.01246
|
|
NM_005045.4(RELN):c.6671+8T>C
|
rs362758
|
0.01237
|
|
NM_001134407.3(GRIN2A):c.*6444G>A
|
rs149410193
|
0.01230
|
|
NM_198859.4(PRICKLE2):c.-252G>C
|
rs142388795
|
0.01230
|
|
NM_018023.5(YEATS2):c.1601C>A (p.Thr534Lys)
|
rs34759333
|
0.01226
|
|
NM_153026.3(PRICKLE1):c.744G>A (p.Ala248=)
|
rs34778200
|
0.01220
|
|
NM_005045.4(RELN):c.8086G>A (p.Ala2696Thr)
|
rs115640958
|
0.01215
|
|
NM_198859.4(PRICKLE2):c.-68G>A
|
rs150393747
|
0.01201
|
|
NM_004287.5(GOSR2):c.*2293G>A
|
rs77706742
|
0.01200
|
|
NM_001242896.3(DEPDC5):c.2742G>A (p.Glu914=)
|
rs118001924
|
0.01176
|
|
NM_005045.4(RELN):c.3839G>A (p.Gly1280Glu)
|
rs55689103
|
0.01176
|
|
NM_001134407.3(GRIN2A):c.*2975G>A
|
rs115979840
|
0.01156
|
|
NM_032737.4(LMNB2):c.1590+14C>T
|
rs115439379
|
0.01154
|
|
NM_001134407.3(GRIN2A):c.*9632T>A
|
rs114596802
|
0.01151
|
|
NM_005045.4(RELN):c.9714C>T (p.His3238=)
|
rs78218774
|
0.01139
|
|
NM_001077350.3(NPRL3):c.1486G>A (p.Ala496Thr)
|
rs58036849
|
0.01129
|
|
NM_000726.5(CACNB4):c.*2778A>C
|
rs114659375
|
0.01105
|
|
NM_000726.5(CACNB4):c.*1459T>C
|
rs114958916
|
0.01102
|
|
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys)
|
rs187930476
|
0.01101
|
|
NM_001122752.2(SERPINI1):c.838G>A (p.Ala280Thr)
|
rs55872908
|
0.01092
|
|
NM_005076.5(CNTN2):c.2922T>G (p.Pro974=)
|
rs116036521
|
0.01076
|
|
NM_005076.5(CNTN2):c.1516C>A (p.Arg506=)
|
rs114903768
|
0.01070
|
|
NM_005045.4(RELN):c.1799C>T (p.Ser600Phe)
|
rs78008536
|
0.01065
|
|
NM_005045.4(RELN):c.5284G>A (p.Val1762Ile)
|
rs79499902
|
0.01040
|
|
NM_032737.4(LMNB2):c.704G>A (p.Arg235Gln)
|
rs121912497
|
0.01005
|
|
NM_000726.5(CACNB4):c.*865G>A
|
rs75365487
|
0.00988
|
|
NM_018100.4(EFHC1):c.881G>A (p.Arg294His)
|
rs1570624
|
0.00969
|
|
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr)
|
rs138421850
|
0.00928
|
|
NM_001161352.2(KCNMA1):c.2526C>T (p.Val842=)
|
rs41274568
|
0.00917
|
|
NM_020822.3(KCNT1):c.1056C>G (p.Leu352=)
|
rs116691849
|
0.00907
|
|
NM_000744.7(CHRNA4):c.24G>C (p.Ala8=)
|
rs6089898
|
0.00898
|
|
NM_001134407.3(GRIN2A):c.*4919C>T
|
rs79849427
|
0.00898
|
|
NM_001134407.3(GRIN2A):c.*1474T>C
|
rs144327233
|
0.00895
|
|
NM_000726.5(CACNB4):c.*2837A>G
|
rs138327808
|
0.00888
|
|
NM_001134407.3(GRIN2A):c.*5447G>T
|
rs145736101
|
0.00881
|
|
NM_001099403.2(PRDM8):c.451+13G>T
|
rs61999345
|
0.00880
|
|
NM_001161352.2(KCNMA1):c.*932G>T
|
rs76644618
|
0.00873
|
|
NM_005506.4(SCARB2):c.475A>G (p.Met159Val)
|
rs143655258
|
0.00858
|
|
NM_020822.3(KCNT1):c.2729+9A>G
|
rs12005420
|
0.00858
|
|
NM_198859.4(PRICKLE2):c.*1277C>G
|
rs17069880
|
0.00857
|
|
NM_000742.4(CHRNA2):c.-424C>T
|
rs55726427
|
0.00829
|
|
NM_001134407.3(GRIN2A):c.*2924A>C
|
rs77580194
|
0.00826
|
|
NM_000726.5(CACNB4):c.*528A>T
|
rs111999910
|
0.00814
|
|
NM_000742.4(CHRNA2):c.-422G>A
|
rs80025940
|
0.00813
|
|
NM_001134407.3(GRIN2A):c.*6597G>A
|
rs115306961
|
0.00812
|
|
NM_198859.4(PRICKLE2):c.*3489G>A
|
rs143062140
|
0.00811
|
|
NM_000100.3(CSTB):c.*355C>G
|
rs143062585
|
0.00808
|
|
NM_018100.4(EFHC1):c.1893C>T (p.Tyr631=)
|
rs35648306
|
0.00805
|
|
NM_000100.4(CSTB):c.*69A>G
|
rs142767585
|
0.00798
|
|
NM_015973.5(GAL):c.47C>T (p.Ala16Val)
|
rs34725707
|
0.00793
|
|
NM_001134407.3(GRIN2A):c.*5045T>A
|
rs148967966
|
0.00790
|
|
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr)
|
rs149055334
|
0.00789
|
|
NM_005076.5(CNTN2):c.1975A>G (p.Asn659Asp)
|
rs41264871
|
0.00788
|
|
NM_015973.5(GAL):c.364C>T (p.Arg122Trp)
|
rs36058701
|
0.00787
|
|
NM_006922.4(SCN3A):c.4432-14T>C
|
rs73969177
|
0.00780
|
|
NM_000726.5(CACNB4):c.*5372T>C
|
rs150406641
|
0.00778
|
|
NM_018100.4(EFHC1):c.662G>A (p.Arg221His)
|
rs79761183
|
0.00778
|
|
NM_000726.5(CACNB4):c.*2210A>G
|
rs114341631
|
0.00772
|
|
NM_000726.5(CACNB4):c.*2695G>T
|
rs74894311
|
0.00768
|
|
NM_001134407.3(GRIN2A):c.2190C>T (p.Tyr730=)
|
rs61753382
|
0.00763
|
|
NM_001161352.2(KCNMA1):c.*634C>G
|
rs74139846
|
0.00747
|
|
NM_005045.4(RELN):c.6343G>A (p.Gly2115Ser)
|
rs116716038
|
0.00747
|
|
NM_153033.5(KCTD7):c.*9G>T
|
rs116630203
|
0.00745
|
|
NM_198859.4(PRICKLE2):c.*3852C>A
|
rs153731
|
0.00717
|
|
NM_021267.5(CERS1):c.492C>T (p.Tyr164=)
|
rs45601540
|
0.00715
|
|
NM_000726.5(CACNB4):c.*4773A>G
|
rs113408437
|
0.00714
|
|
NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser)
|
rs3827522
|
0.00701
|
|
NM_001122752.2(SERPINI1):c.881+10T>G
|
rs113533056
|
0.00693
|
|
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His)
|
rs55685423
|
0.00688
|
|
NM_016373.4(WWOX):c.754C>G (p.Pro252Ala)
|
rs75559202
|
0.00684
|
|
NM_001161352.2(KCNMA1):c.1749+11G>A
|
rs116546993
|
0.00682
|
|
NM_005045.4(RELN):c.6078C>T (p.Asn2026=)
|
rs79610081
|
0.00676
|
|
NM_001242896.3(DEPDC5):c.2139A>G (p.Leu713=)
|
rs16989536
|
0.00675
|
|
NM_000726.5(CACNB4):c.*1284T>G
|
rs112989362
|
0.00674
|
|
NM_020822.3(KCNT1):c.3312G>A (p.Leu1104=)
|
rs149416418
|
0.00671
|
|
NM_005097.4(LGI1):c.216-55T>C
|
rs143132529
|
0.00666
|
|
NM_198586.3(NHLRC1):c.*344A>T
|
rs147528518
|
0.00663
|
|
NM_001122752.2(SERPINI1):c.250+13A>G
|
rs77880879
|
0.00659
|
|
NM_005045.4(RELN):c.9524A>C (p.His3175Pro)
|
rs74513461
|
0.00648
|
|
NM_153026.3(PRICKLE1):c.374T>C (p.Val125Ala)
|
rs34837068
|
0.00631
|
|
NM_005506.4(SCARB2):c.362G>A (p.Arg121Gln)
|
rs73826386
|
0.00619
|
|
NM_000726.5(CACNB4):c.1303-3T>C
|
rs143442080
|
0.00617
|
|
NM_001134407.3(GRIN2A):c.*2396G>A
|
rs113138480
|
0.00616
|
|
NM_001134407.3(GRIN2A):c.*4036A>G
|
rs9921182
|
0.00616
|
|
NM_018100.4(EFHC1):c.1224C>T (p.Asp408=)
|
rs116134831
|
0.00613
|
|
NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly)
|
rs77602559
|
0.00605
|
|
NM_153026.3(PRICKLE1):c.2304C>G (p.Ser768=)
|
rs35854729
|
0.00598
|
|
NM_005097.4(LGI1):c.*215T>C
|
rs17502662
|
0.00589
|
|
NM_001134407.3(GRIN2A):c.*7349C>T
|
rs191366035
|
0.00588
|
|
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=)
|
rs45527834
|
0.00578
|
|
NM_004287.5(GOSR2):c.*1377G>A
|
rs180777362
|
0.00573
|
|
NM_198859.4(PRICKLE2):c.*3864T>C
|
rs544825776
|
0.00560
|
|
NM_005045.4(RELN):c.621C>T (p.Asp207=)
|
rs114627891
|
0.00558
|
|
NM_005045.4(RELN):c.1075G>A (p.Val359Ile)
|
rs114926265
|
0.00535
|
|
NM_001161352.2(KCNMA1):c.*1765T>C
|
rs80189498
|
0.00532
|
|
NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile)
|
rs140990288
|
0.00518
|
|
NM_000726.5(CACNB4):c.-25G>T
|
rs143675846
|
0.00516
|
|
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu)
|
rs115913736
|
0.00515
|
|
NM_005045.4(RELN):c.4937-15A>T
|
rs2711839
|
0.00514
|
|
NM_005045.4(RELN):c.6084C>T (p.Gly2028=)
|
rs114019779
|
0.00507
|
|
NM_018941.4(CLN8):c.-123-4T>C
|
rs114189810
|
0.00505
|
|
NM_000744.7(CHRNA4):c.76+18G>T
|
rs199908363
|
0.00504
|
|
NM_153033.5(KCTD7):c.*3238G>A
|
rs144828027
|
0.00504
|
|
NM_001099403.2(PRDM8):c.1447G>T (p.Ala483Ser)
|
rs544862921
|
0.00503
|
|
NM_001134407.3(GRIN2A):c.*5733C>T
|
rs574207711
|
0.00502
|
|
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu)
|
rs61731465
|
0.00502
|
|
NM_005045.4(RELN):c.1824C>T (p.Cys608=)
|
rs79620906
|
0.00502
|
|
NM_153026.3(PRICKLE1):c.370G>A (p.Ala124Thr)
|
rs79087668
|
0.00498
|
|
NM_001099403.2(PRDM8):c.722C>A (p.Pro241Gln)
|
rs200010979
|
0.00497
|
|
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser)
|
rs200642629
|
0.00491
|
|
NM_001134407.3(GRIN2A):c.*6941C>T
|
rs181271617
|
0.00489
|
|
NM_020361.5(CPA6):c.*242T>C
|
rs527673781
|
0.00486
|
|
NM_000100.4(CSTB):c.67-3T>C
|
rs6383
|
0.00473
|
|
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys)
|
rs61758995
|
0.00472
|
|
NM_018100.3(EFHC1):c.-162C>T
|
rs41273738
|
0.00472
|
|
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala)
|
rs146292575
|
0.00472
|
|
NM_005045.4(RELN):c.3712A>C (p.Asn1238His)
|
rs114003896
|
0.00468
|
|
NM_005076.5(CNTN2):c.947C>T (p.Thr316Ile)
|
rs139732336
|
0.00468
|
|
NM_000742.4(CHRNA2):c.*1006G>A
|
rs145560154
|
0.00467
|
|
NM_005045.4(RELN):c.5775A>G (p.Arg1925=)
|
rs2711866
|
0.00464
|
|
NM_001099403.2(PRDM8):c.1137C>A (p.Gly379=)
|
rs144810863
|
0.00461
|
|
NM_000726.5(CACNB4):c.*2391T>G
|
rs143821304
|
0.00454
|
|
NM_198859.4(PRICKLE2):c.*1044C>T
|
rs111362297
|
0.00452
|
|
NM_198586.3(NHLRC1):c.303G>T (p.Pro101=)
|
rs187783545
|
0.00443
|
|
NM_001134407.3(GRIN2A):c.*5512T>C
|
rs149933070
|
0.00434
|
|
NM_005506.4(SCARB2):c.1239+14C>T
|
rs143699909
|
0.00432
|
|
NM_000744.7(CHRNA4):c.384-11T>G
|
rs201015514
|
0.00425
|
|
NM_001077350.3(NPRL3):c.1544+18C>T
|
rs147148279
|
0.00424
|
|
NM_000742.4(CHRNA2):c.*108C>T
|
rs147882344
|
0.00421
|
|
NM_001134407.3(GRIN2A):c.*6475T>A
|
rs78377517
|
0.00421
|
|
NM_001099403.2(PRDM8):c.1050C>T (p.Cys350=)
|
rs374280707
|
0.00420
|
|
NM_001077350.3(NPRL3):c.534C>T (p.Ser178=)
|
rs140092767
|
0.00419
|
|
NM_020822.3(KCNT1):c.30G>A (p.Pro10=)
|
rs139034501
|
0.00419
|
|
NM_005045.4(RELN):c.4986C>G (p.Thr1662=)
|
rs78221963
|
0.00412
|
|
NM_000742.4(CHRNA2):c.*1446A>G
|
rs28697263
|
0.00411
|
|
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val)
|
rs73740379
|
0.00408
|
|
NM_016097.5(IER3IP1):c.*58T>C
|
rs150586939
|
0.00406
|
|
NM_001099403.2(PRDM8):c.1390C>T (p.Pro464Ser)
|
rs201251555
|
0.00402
|
|
NM_018100.4(EFHC1):c.*896C>T
|
rs112311115
|
0.00399
|
|
NM_020822.3(KCNT1):c.116C>T (p.Pro39Leu)
|
rs201051863
|
0.00399
|
|
NM_000742.4(CHRNA2):c.*1873A>G
|
rs146191907
|
0.00387
|
|
NM_001242896.3(DEPDC5):c.2856T>C (p.Cys952=)
|
rs115299174
|
0.00386
|
|
NM_178013.4(PRIMA1):c.222C>T (p.Ser74=)
|
rs145840548
|
0.00386
|
|
NM_018100.4(EFHC1):c.210A>G (p.Pro70=)
|
rs145367062
|
0.00385
|
|
NM_001134407.3(GRIN2A):c.*5740A>C
|
rs144545983
|
0.00382
|
|
NM_153033.5(KCTD7):c.*216A>G
|
rs77341088
|
0.00380
|
|
NM_001134407.3(GRIN2A):c.*2210A>T
|
rs148482120
|
0.00377
|
|
NM_015973.5(GAL):c.361G>A (p.Glu121Lys)
|
rs139127322
|
0.00377
|
|
NM_153026.3(PRICKLE1):c.108C>T (p.Val36=)
|
rs147268650
|
0.00376
|
|
NM_005076.5(CNTN2):c.2583G>A (p.Ala861=)
|
rs115143667
|
0.00374
|
|
NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=)
|
rs45586138
|
0.00372
|
|
NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg)
|
rs2229860
|
0.00361
|
|
NM_000726.5(CACNB4):c.*2729G>A
|
rs144329745
|
0.00357
|
|
NM_000742.4(CHRNA2):c.*285G>C
|
rs111565880
|
0.00356
|
|
NM_198859.4(PRICKLE2):c.-370G>A
|
rs139238137
|
0.00356
|
|
NM_005045.4(RELN):c.7538C>G (p.Ser2513Cys)
|
rs114647348
|
0.00354
|
|
NM_198586.3(NHLRC1):c.*320G>A
|
rs79197160
|
0.00352
|
|
NM_020822.3(KCNT1):c.2376C>T (p.Asp792=)
|
rs149028586
|
0.00351
|
|
NM_000742.4(CHRNA2):c.*384G>A
|
rs76428534
|
0.00349
|
|
NM_001122752.2(SERPINI1):c.289G>A (p.Val97Ile)
|
rs61750375
|
0.00340
|
|
NM_018941.4(CLN8):c.777T>C (p.Asn259=)
|
rs34814682
|
0.00334
|
|
NM_000726.5(CACNB4):c.*624A>T
|
rs755272601
|
0.00332
|
|
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=)
|
rs55857552
|
0.00330
|
|
NM_000742.4(CHRNA2):c.-379T>C
|
rs75861520
|
0.00327
|
|
NM_001122752.2(SERPINI1):c.482-20A>G
|
rs2420038
|
0.00327
|
|
NM_001134407.3(GRIN2A):c.*39G>A
|
rs141956850
|
0.00325
|
|
NM_020822.3(KCNT1):c.1533G>A (p.Glu511=)
|
rs151080601
|
0.00325
|
|
NM_020822.3(KCNT1):c.99A>G (p.Gln33=)
|
rs146152956
|
0.00323
|
|
NM_001134407.3(GRIN2A):c.662A>G (p.Lys221Arg)
|
rs61731464
|
0.00322
|
|
NM_000726.5(CACNB4):c.*6140G>T
|
rs74944346
|
0.00321
|
|
NM_001134407.3(GRIN2A):c.*6323C>T
|
rs148431972
|
0.00320
|
|
NM_001122752.2(SERPINI1):c.297T>G (p.Ala99=)
|
rs61761891
|
0.00319
|
|
NM_001134407.3(GRIN2A):c.*8396T>C
|
rs192548671
|
0.00319
|
|
NM_005045.4(RELN):c.565C>T (p.His189Tyr)
|
rs115806540
|
0.00319
|
|
NM_000726.5(CACNB4):c.599-15G>A
|
rs41270209
|
0.00314
|
|
NM_001134407.3(GRIN2A):c.*5672C>T
|
rs9922811
|
0.00314
|
|
NM_001161352.2(KCNMA1):c.945C>T (p.Ala315=)
|
rs79713097
|
0.00314
|
|
NM_001134407.3(GRIN2A):c.*5598G>A
|
rs13330899
|
0.00313
|
|
NM_000726.5(CACNB4):c.*5855A>C
|
rs118093432
|
0.00312
|
|
NM_001161352.2(KCNMA1):c.*690C>A
|
rs145289064
|
0.00312
|
|
NM_001122752.2(SERPINI1):c.518A>G (p.Asp173Gly)
|
rs61735309
|
0.00308
|
|
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu)
|
rs56344740
|
0.00307
|
|
NM_153033.5(KCTD7):c.*3612G>A
|
rs35633983
|
0.00306
|
|
NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=)
|
rs141743294
|
0.00302
|
|
NM_000726.5(CACNB4):c.*1942T>C
|
rs139629003
|
0.00300
|
|
NM_005045.4(RELN):c.5923G>A (p.Gly1975Ser)
|
rs114807343
|
0.00300
|
|
NM_005045.4(RELN):c.7086C>T (p.Thr2362=)
|
rs362747
|
0.00300
|
|
NM_020361.5(CPA6):c.809C>T (p.Ala270Val)
|
rs114402678
|
0.00300
|
|
NM_001134407.3(GRIN2A):c.*7326C>T
|
rs142407415
|
0.00299
|
|
NM_020361.5(CPA6):c.975A>G (p.Ala325=)
|
rs138313759
|
0.00299
|
|
NM_000726.5(CACNB4):c.*5022A>G
|
rs548177540
|
0.00298
|
|
NM_198586.3(NHLRC1):c.*875T>C
|
rs72839174
|
0.00296
|
|
NM_005045.4(RELN):c.6228C>T (p.Ser2076=)
|
rs115379833
|
0.00291
|
|
NM_001077350.3(NPRL3):c.629+9G>C
|
rs142080016
|
0.00290
|
|
NM_001112741.2(KCNC1):c.1236C>T (p.Ser412=)
|
rs73424033
|
0.00289
|
|
NM_001161352.2(KCNMA1):c.*394C>A
|
rs41281550
|
0.00287
|
|
NM_005045.4(RELN):c.3651C>G (p.Ile1217Met)
|
rs56342240
|
0.00287
|
|
NM_005045.4(RELN):c.906C>T (p.Ala302=)
|
rs114494558
|
0.00287
|
|
NM_005045.4(RELN):c.2466-6C>T
|
rs1167948188
|
0.00286
|
|
NM_001161352.2(KCNMA1):c.2565C>T (p.Ile855=)
|
rs2229009
|
0.00285
|
|
NM_005045.4(RELN):c.416C>G (p.Thr139Ser)
|
rs79471015
|
0.00283
|
|
NM_001112741.2(KCNC1):c.570+19A>T
|
rs186151622
|
0.00282
|
|
NM_006922.4(SCN3A):c.171T>C (p.Ala57=)
|
rs111389453
|
0.00278
|
|
NM_005076.5(CNTN2):c.2845-12T>C
|
rs74139115
|
0.00275
|
|
NM_004287.5(GOSR2):c.*1679A>G
|
rs149765350
|
0.00273
|
|
NM_020822.3(KCNT1):c.333G>A (p.Ser111=)
|
rs56008253
|
0.00273
|
|
NM_198859.4(PRICKLE2):c.-562G>A
|
rs113321925
|
0.00266
|
|
NM_018100.4(EFHC1):c.25T>C (p.Leu9=)
|
rs149315015
|
0.00264
|
|
NM_000744.7(CHRNA4):c.1352C>T (p.Pro451Leu)
|
rs55915440
|
0.00262
|
|
NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=)
|
rs45569837
|
0.00262
|
|
NM_018100.4(EFHC1):c.887G>A (p.Arg296His)
|
rs115205076
|
0.00261
|
|
NM_001077350.3(NPRL3):c.1024G>T (p.Val342Leu)
|
rs11558704
|
0.00258
|
|
NM_000744.7(CHRNA4):c.9A>G (p.Leu3=)
|
rs80075498
|
0.00257
|
|
NM_000726.5(CACNB4):c.*1909C>T
|
rs113319414
|
0.00256
|
|
NM_001112741.2(KCNC1):c.1629C>T (p.Tyr543=)
|
rs552972841
|
0.00255
|
|
NM_001242896.3(DEPDC5):c.3810C>T (p.Ala1270=)
|
rs200033252
|
0.00252
|
|
NM_020822.3(KCNT1):c.2430C>T (p.Ala810=)
|
rs139114208
|
0.00243
|
|
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu)
|
rs137852776
|
0.00242
|
|
NM_001122752.2(SERPINI1):c.40A>G (p.Ser14Gly)
|
rs61735307
|
0.00240
|
|
NM_001112741.2(KCNC1):c.1017A>C (p.Arg339=)
|
rs137989254
|
0.00239
|
|
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg)
|
rs61738009
|
0.00239
|
|
NM_198859.4(PRICKLE2):c.*560T>A
|
rs528463950
|
0.00238
|
|
NM_000742.4(CHRNA2):c.449+12T>C
|
rs202012980
|
0.00236
|
|
NM_001134407.3(GRIN2A):c.*2236G>A
|
rs147419689
|
0.00236
|
|
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_005045.4(RELN):c.4408G>A (p.Val1470Ile)
|
rs143213152
|
0.00232
|
|
NM_005506.4(SCARB2):c.171T>C (p.Pro57=)
|
rs199895330
|
0.00232
|
|
NM_005045.4(RELN):c.7438G>A (p.Gly2480Ser)
|
rs150236371
|
0.00231
|
|
NM_198859.4(PRICKLE2):c.1527G>A (p.Glu509=)
|
rs144455095
|
0.00228
|
|
NM_001242896.3(DEPDC5):c.2072T>C (p.Leu691Pro)
|
rs201464790
|
0.00227
|
|
NM_001242896.3(DEPDC5):c.2075C>T (p.Ser692Phe)
|
rs199783404
|
0.00227
|
|
NM_001134407.3(GRIN2A):c.1652-13T>C
|
rs201444481
|
0.00226
|
|
NM_005045.4(RELN):c.8811G>A (p.Ala2937=)
|
rs144728023
|
0.00226
|
|
NM_000742.4(CHRNA2):c.-447T>A
|
rs75312501
|
0.00225
|
|
NM_005076.5(CNTN2):c.505C>T (p.Leu169Phe)
|
rs142502980
|
0.00224
|
|
NM_005670.4(EPM2A):c.393G>A (p.Glu131=)
|
rs61758155
|
0.00223
|
|
NM_000742.4(CHRNA2):c.-45C>A
|
rs12114756
|
0.00222
|
|
NM_000744.7(CHRNA4):c.1353G>A (p.Pro451=)
|
rs113168860
|
0.00222
|
|
NM_001112741.2(KCNC1):c.933C>T (p.Arg311=)
|
rs76882721
|
0.00220
|
|
NM_153033.5(KCTD7):c.*1619A>G
|
rs115778754
|
0.00220
|
|
NM_022765.4(MICAL1):c.1599G>A (p.Leu533=)
|
rs142979809
|
0.00219
|
|
NM_198859.4(PRICKLE2):c.-482A>G
|
rs143342419
|
0.00219
|
|
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys)
|
rs181347577
|
0.00218
|
|
NM_005045.4(RELN):c.9321C>T (p.Leu3107=)
|
rs150387973
|
0.00218
|
|
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala)
|
rs144787939
|
0.00217
|
|
NM_005506.4(SCARB2):c.445G>A (p.Val149Met)
|
rs147159813
|
0.00217
|
|
NM_020822.3(KCNT1):c.2235C>T (p.Ser745=)
|
rs146810749
|
0.00215
|
|
NM_005045.4(RELN):c.1442-8T>C
|
rs181761096
|
0.00212
|
|
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile)
|
rs41275239
|
0.00212
|
|
NM_018100.4(EFHC1):c.1155C>T (p.Asn385=)
|
rs115913738
|
0.00210
|
|
NM_000744.7(CHRNA4):c.1143C>T (p.Ala381=)
|
rs75221202
|
0.00208
|
|
NM_001242896.3(DEPDC5):c.2801+8A>G
|
rs370009456
|
0.00206
|
|
NM_198859.4(PRICKLE2):c.*4057G>A
|
rs140931283
|
0.00204
|
|
NM_005076.5(CNTN2):c.1287C>T (p.Pro429=)
|
rs145911280
|
0.00202
|
|
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg)
|
rs200662010
|
0.00201
|
|
NM_198586.3(NHLRC1):c.*332G>T
|
rs140122442
|
0.00201
|
|
NM_000744.7(CHRNA4):c.1047G>A (p.Leu349=)
|
rs75593857
|
0.00200
|
|
NM_001134407.3(GRIN2A):c.*7425T>A
|
rs184642158
|
0.00200
|
|
NM_001242896.3(DEPDC5):c.3683T>C (p.Ile1228Thr)
|
rs200653339
|
0.00200
|
|
NM_005045.4(RELN):c.2303+16G>T
|
rs188276472
|
0.00198
|
|
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln)
|
rs146321088
|
0.00197
|
|
NM_018100.4(EFHC1):c.*1876T>G
|
rs148070071
|
0.00194
|
|
NM_001242896.3(DEPDC5):c.4519+13G>A
|
rs181976978
|
0.00193
|
|
NM_018100.4(EFHC1):c.*233T>A
|
rs538486876
|
0.00193
|
|
NM_000726.5(CACNB4):c.*5622C>T
|
rs187012852
|
0.00191
|
|
NM_005670.4(EPM2A):c.719-4G>A
|
rs145030227
|
0.00191
|
|
NM_005045.4(RELN):c.8120-9T>C
|
rs74952625
|
0.00190
|
|
NM_198859.4(PRICKLE2):c.444C>T (p.Arg148=)
|
rs146538069
|
0.00190
|
|
NM_001161352.2(KCNMA1):c.*2183C>T
|
rs201067003
|
0.00188
|
|
NM_001134407.3(GRIN2A):c.1122+16T>A
|
rs149886469
|
0.00187
|
|
NM_005045.4(RELN):c.1377G>A (p.Arg459=)
|
rs73712207
|
0.00185
|
|
NM_020822.3(KCNT1):c.3690C>T (p.Arg1230=)
|
rs141521745
|
0.00185
|
|
NM_032737.4(LMNB2):c.1822-17T>C
|
rs201909206
|
0.00184
|
|
NM_005076.5(CNTN2):c.105C>T (p.Phe35=)
|
rs147074435
|
0.00182
|
|
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_001122752.2(SERPINI1):c.*197T>C
|
rs532826558
|
0.00181
|
|
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu)
|
rs139029314
|
0.00181
|
|
NM_001130438.3(SPTAN1):c.3720-5T>G
|
rs200543425
|
0.00180
|
|
NM_001134407.3(GRIN2A):c.*6545C>A
|
rs59394706
|
0.00180
|
|
NM_004287.5(GOSR2):c.*2057C>T
|
rs368549324
|
0.00180
|
|
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val)
|
rs144215383
|
0.00178
|
|
NM_005076.5(CNTN2):c.1896C>T (p.Phe632=)
|
rs145918837
|
0.00178
|
|
NM_001161352.2(KCNMA1):c.2484+7G>A
|
rs13377017
|
0.00176
|
|
NM_005076.5(CNTN2):c.2545-12C>T
|
rs201687043
|
0.00175
|
|
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val)
|
rs180922748
|
0.00174
|
|
NM_005045.4(RELN):c.3008+11A>G
|
rs186983114
|
0.00174
|
|
NM_005045.4(RELN):c.246C>G (p.Thr82=)
|
rs113242008
|
0.00171
|
|
NM_018100.4(EFHC1):c.1069G>A (p.Glu357Lys)
|
rs505760
|
0.00170
|
|
NM_153033.4(KCTD7):c.*3991G>C
|
rs147205609
|
0.00168
|
|
NM_001242896.3(DEPDC5):c.814G>A (p.Val272Ile)
|
rs187334123
|
0.00167
|
|
NM_000744.7(CHRNA4):c.1662G>A (p.Pro554=)
|
rs121912284
|
0.00165
|
|
NM_001242896.3(DEPDC5):c.1321A>G (p.Thr441Ala)
|
rs199749859
|
0.00162
|
|
NM_007217.4(PDCD10):c.-438G>C
|
rs546722173
|
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_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)
|
rs121918799
|
0.00159
|
|
NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val)
|
rs200250181
|
0.00159
|
|
NM_032737.4(LMNB2):c.804C>T (p.Asp268=)
|
rs150969746
|
0.00159
|
|
NM_001077350.3(NPRL3):c.447C>T (p.Ile149=)
|
rs367592989
|
0.00156
|
|
NM_005045.4(RELN):c.8275-19T>C
|
rs149567032
|
0.00156
|
|
NM_018723.4(RBFOX1):c.1057G>A (p.Gly353Ser)
|
rs145873257
|
0.00156
|
|
NM_004315.6(ASAH1):c.35G>C (p.Arg12Pro)
|
rs147896487
|
0.00155
|
|
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln)
|
rs121918817
|
0.00154
|
|
NM_005045.4(RELN):c.77C>T (p.Ala26Val)
|
rs144557847
|
0.00154
|
|
NM_000744.7(CHRNA4):c.1758+16G>A
|
rs113109615
|
0.00153
|
|
NM_001134407.3(GRIN2A):c.*5720C>G
|
rs9922737
|
0.00153
|
|
NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln)
|
rs121912280
|
0.00152
|
|
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=)
|
rs45617636
|
0.00151
|
|
NM_000742.4(CHRNA2):c.1500C>T (p.Ile500=)
|
rs143223159
|
0.00150
|
|
NM_001134407.3(GRIN2A):c.1251C>T (p.Val417=)
|
rs139329447
|
0.00150
|
|
NM_153026.3(PRICKLE1):c.177C>T (p.Tyr59=)
|
rs144843013
|
0.00149
|
|
NM_000726.5(CACNB4):c.1413G>A (p.Arg471=)
|
rs1805029
|
0.00148
|
|
NM_001161352.2(KCNMA1):c.961-13C>G
|
rs201400753
|
0.00148
|
|
NM_005076.5(CNTN2):c.1405C>A (p.Pro469Thr)
|
rs147693556
|
0.00148
|
|
NM_005506.4(SCARB2):c.704+16T>C
|
rs199686576
|
0.00148
|
|
NM_153033.5(KCTD7):c.384G>A (p.Glu128=)
|
rs145238250
|
0.00148
|
|
NM_153033.5(KCTD7):c.*557A>T
|
rs560766108
|
0.00147
|
|
NM_001077350.3(NPRL3):c.1351+19C>T
|
rs372572343
|
0.00146
|
|
NM_001161352.2(KCNMA1):c.3051C>T (p.Asp1017=)
|
rs115772068
|
0.00145
|
|
NM_005670.4(EPM2A):c.129C>G (p.Ala43=)
|
rs547147183
|
0.00145
|
|
NM_198586.3(NHLRC1):c.*326C>T
|
rs369668171
|
0.00144
|
|
NM_001134407.3(GRIN2A):c.3622C>A (p.Arg1208=)
|
rs78544202
|
0.00143
|
|
NM_020822.3(KCNT1):c.2892C>T (p.Phe964=)
|
rs146904895
|
0.00143
|
|
NM_198859.4(PRICKLE2):c.788-6T>C
|
rs180903875
|
0.00143
|
|
NM_001099403.2(PRDM8):c.1011A>C (p.Val337=)
|
rs755114294
|
0.00142
|
|
NM_001122752.2(SERPINI1):c.77T>C (p.Ile26Thr)
|
rs146948408
|
0.00142
|
|
NM_001161352.2(KCNMA1):c.1056C>T (p.Thr352=)
|
rs75207686
|
0.00142
|
|
NM_000744.7(CHRNA4):c.77-4G>A
|
rs201123897
|
0.00141
|
|
NM_001077350.3(NPRL3):c.652C>T (p.Arg218Trp)
|
rs201957188
|
0.00141
|
|
NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys)
|
rs114684479
|
0.00140
|
|
NM_018100.4(EFHC1):c.1820A>G (p.Asn607Ser)
|
rs115475262
|
0.00140
|
|
NM_020822.3(KCNT1):c.3390G>A (p.Ala1130=)
|
rs77912754
|
0.00140
|
|
NM_020822.3(KCNT1):c.435-17G>A
|
rs140115987
|
0.00140
|
|
NM_001134407.3(GRIN2A):c.*3687C>A
|
rs150879081
|
0.00136
|
|
NM_001134407.3(GRIN2A):c.-34C>A
|
rs564039694
|
0.00134
|
|
NM_001134407.3(GRIN2A):c.1777+17G>A
|
rs375869375
|
0.00134
|
|
NM_000748.3(CHRNB2):c.1235G>A (p.Gly412Asp)
|
rs112585933
|
0.00133
|
|
NM_001112741.2(KCNC1):c.1287C>A (p.Ala429=)
|
rs139804857
|
0.00133
|
|
NM_001134407.3(GRIN2A):c.900C>T (p.Thr300=)
|
rs143669998
|
0.00133
|
|
NM_198586.3(NHLRC1):c.422T>C (p.Val141Ala)
|
rs143537405
|
0.00133
|
|
NM_020361.5(CPA6):c.1077G>A (p.Gln359=)
|
rs143536122
|
0.00132
|
|
NM_015973.5(GAL):c.253A>G (p.Asn85Asp)
|
rs145825008
|
0.00131
|
|
NM_000742.4(CHRNA2):c.*1849A>G
|
rs531828656
|
0.00130
|
|
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln)
|
rs138282349
|
0.00128
|
|
NM_005045.4(RELN):c.7181-19A>G
|
rs187689137
|
0.00127
|
|
NM_021267.5(CERS1):c.450C>T (p.Ala150=)
|
rs201106410
|
0.00126
|
|
NM_001134407.3(GRIN2A):c.*3305C>A
|
rs149492540
|
0.00124
|
|
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly)
|
rs191333060
|
0.00123
|
|
NM_005045.4(RELN):c.3123C>T (p.Gly1041=)
|
rs41276148
|
0.00123
|
|
NM_000726.5(CACNB4):c.*1093T>C
|
rs142139235
|
0.00122
|
|
NM_000726.5(CACNB4):c.*2188T>G
|
rs548234328
|
0.00122
|
|
NM_000744.7(CHRNA4):c.978C>T (p.Phe326=)
|
rs76270730
|
0.00122
|
|
NM_020822.3(KCNT1):c.3256G>A (p.Gly1086Arg)
|
rs201156458
|
0.00122
|
|
NM_000742.3(CHRNA2):c.*1882C>A
|
rs570954015
|
0.00121
|
|
NM_000742.4(CHRNA2):c.*1403C>G
|
rs376282591
|
0.00121
|
|
NM_001099403.2(PRDM8):c.1857G>T (p.Leu619=)
|
rs140737026
|
0.00121
|
|
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys)
|
rs202162520
|
0.00121
|
|
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu)
|
rs35993949
|
0.00121
|
|
NM_153026.3(PRICKLE1):c.1461C>T (p.Ser487=)
|
rs116197349
|
0.00121
|
|
NM_032737.4(LMNB2):c.1482+15C>T
|
rs199890540
|
0.00120
|
|
NM_198859.4(PRICKLE2):c.457G>A (p.Val153Ile)
|
rs139747674
|
0.00120
|
|
NM_001134407.3(GRIN2A):c.903C>T (p.Thr301=)
|
rs78241448
|
0.00119
|
|
NM_178013.4(PRIMA1):c.201G>A (p.Pro67=)
|
rs998017466
|
0.00119
|
|
NM_000742.4(CHRNA2):c.*1117G>A
|
rs7840761
|
0.00117
|
|
NM_032737.4(LMNB2):c.255C>G (p.Thr85=)
|
rs201524951
|
0.00117
|
|
NM_001099403.2(PRDM8):c.1506G>A (p.Ser502=)
|
rs764387669
|
0.00116
|
|
NM_005506.4(SCARB2):c.246G>C (p.Arg82=)
|
rs35035064
|
0.00116
|
|
NM_178013.4(PRIMA1):c.402G>A (p.Glu134=)
|
rs139674492
|
0.00115
|
|
NM_001134407.3(GRIN2A):c.2007+15C>T
|
rs76627672
|
0.00114
|
|
NM_005045.4(RELN):c.3424T>A (p.Ser1142Thr)
|
rs145484343
|
0.00114
|
|
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala)
|
rs143558324
|
0.00114
|
|
NM_005097.4(LGI1):c.345A>G (p.Pro115=)
|
rs151104648
|
0.00113
|
|
NM_001122752.2(SERPINI1):c.432T>C (p.Asn144=)
|
rs140116256
|
0.00112
|
|
NM_018100.4(EFHC1):c.*99T>A
|
rs151292895
|
0.00110
|
|
NM_032737.4(LMNB2):c.856-14C>G
|
rs370425122
|
0.00109
|
|
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_005045.4(RELN):c.5880A>G (p.Thr1960=)
|
rs362793
|
0.00105
|
|
NM_153033.5(KCTD7):c.*2009A>G
|
rs184129807
|
0.00105
|
|
NM_001134407.3(GRIN2A):c.*6472G>C
|
rs143106212
|
0.00104
|
|
NM_000726.5(CACNB4):c.*1814G>A
|
rs181447432
|
0.00103
|
|
NM_001161352.2(KCNMA1):c.*2325T>A
|
rs41281548
|
0.00103
|
|
NM_001242896.3(DEPDC5):c.262A>G (p.Asn88Asp)
|
rs144712084
|
0.00103
|
|
NM_005097.4(LGI1):c.*180G>A
|
rs544656851
|
0.00103
|
|
NM_001134407.3(GRIN2A):c.*2586C>T
|
rs181616477
|
0.00102
|
|
NM_000100.4(CSTB):c.121G>A (p.Val41Met)
|
rs143153487
|
0.00101
|
|
NM_005045.4(RELN):c.4748-11T>C
|
rs201494847
|
0.00098
|
|
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_020822.3(KCNT1):c.2142G>A (p.Leu714=)
|
rs370580872
|
0.00098
|
|
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr)
|
rs141068211
|
0.00098
|
|
NM_001161352.2(KCNMA1):c.2015+7G>A
|
rs78670694
|
0.00097
|
|
NM_000726.5(CACNB4):c.*737C>T
|
rs558590558
|
0.00096
|
|
NM_020822.3(KCNT1):c.2350-8G>A
|
rs371678685
|
0.00096
|
|
NM_020822.3(KCNT1):c.985C>T (p.Leu329=)
|
rs147165522
|
0.00093
|
|
NM_198586.3(NHLRC1):c.*886G>A
|
rs146342540
|
0.00093
|
|
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe)
|
rs200092211
|
0.00091
|
|
NM_000742.4(CHRNA2):c.1100G>A (p.Arg367Gln)
|
rs149464248
|
0.00091
|
|
NM_001161352.2(KCNMA1):c.2937A>G (p.Pro979=)
|
rs138823071
|
0.00091
|
|
NM_005045.4(RELN):c.1001G>A (p.Arg334His)
|
rs146922726
|
0.00091
|
|
NM_005045.4(RELN):c.577+7G>T
|
rs188372756
|
0.00091
|
|
NM_020822.3(KCNT1):c.1879A>G (p.Ile627Val)
|
rs143355299
|
0.00090
|
|
NM_198859.4(PRICKLE2):c.*4994C>T
|
rs190966782
|
0.00089
|
|
NM_000744.7(CHRNA4):c.1160A>G (p.Glu387Gly)
|
rs45604738
|
0.00088
|
|
NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=)
|
rs144813907
|
0.00088
|
|
NM_020822.3(KCNT1):c.1134C>T (p.Val378=)
|
rs149960236
|
0.00088
|
|
NM_020822.3(KCNT1):c.2034C>T (p.Gly678=)
|
rs369983077
|
0.00088
|
|
NM_020822.3(KCNT1):c.3157-8C>T
|
rs371874401
|
0.00088
|
|
NM_032737.4(LMNB2):c.815G>A (p.Arg272Gln)
|
rs142557433
|
0.00088
|
|
NM_000744.7(CHRNA4):c.384-18C>T
|
rs200407438
|
0.00087
|
|
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val)
|
rs147399860
|
0.00087
|
|
NM_020822.3(KCNT1):c.2994G>A (p.Leu998=)
|
rs143198263
|
0.00087
|
|
NM_020822.3(KCNT1):c.854+10G>A
|
rs146470183
|
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_032737.4(LMNB2):c.1483-11G>A
|
rs191041189
|
0.00086
|
|
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu)
|
rs79137415
|
0.00084
|
|
NM_005045.4(RELN):c.7111G>A (p.Ala2371Thr)
|
rs79377093
|
0.00084
|
|
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)
|
rs142269885
|
0.00083
|
|
NM_020822.3(KCNT1):c.2842-15C>T
|
rs372262576
|
0.00083
|
|
NM_000744.7(CHRNA4):c.1053C>T (p.Ile351=)
|
rs61737042
|
0.00082
|
|
NM_001242896.3(DEPDC5):c.1615C>G (p.His539Asp)
|
rs193042481
|
0.00082
|
|
NM_005076.5(CNTN2):c.2155G>A (p.Gly719Arg)
|
rs144056952
|
0.00082
|
|
NM_005097.4(LGI1):c.-168G>A
|
rs879390887
|
0.00081
|
|
NM_020822.3(KCNT1):c.3606C>T (p.Asp1202=)
|
rs140628824
|
0.00081
|
|
NM_000744.7(CHRNA4):c.1108C>T (p.Arg370Trp)
|
rs76378652
|
0.00080
|
|
NM_005045.4(RELN):c.4182A>G (p.Ser1394=)
|
rs147496823
|
0.00080
|
|
NM_005097.4(LGI1):c.1A>G (p.Met1Val)
|
rs202204627
|
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_018723.4(RBFOX1):c.677-5C>T
|
rs147023054
|
0.00077
|
|
NM_000726.5(CACNB4):c.*4969G>A
|
rs537140595
|
0.00076
|
|
NM_001134407.3(GRIN2A):c.669C>T (p.His223=)
|
rs138117658
|
0.00076
|
|
NM_005045.4(RELN):c.3913-9T>C
|
rs372473867
|
0.00076
|
|
NM_001099403.2(PRDM8):c.1407G>A (p.Ala469=)
|
rs559035384
|
0.00075
|
|
NM_005097.4(LGI1):c.600C>T (p.Cys200=)
|
rs148862146
|
0.00075
|
|
NM_020361.5(CPA6):c.916G>A (p.Val306Ile)
|
rs147046973
|
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_000726.5(CACNB4):c.*1110C>A
|
rs147608603
|
0.00074
|
|
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe)
|
rs1805031
|
0.00074
|
|
NM_020822.3(KCNT1):c.1619+18C>T
|
rs183348093
|
0.00074
|
|
NM_178013.4(PRIMA1):c.360-15T>G
|
rs202027086
|
0.00074
|
|
NM_000100.4(CSTB):c.54C>T (p.His18=)
|
rs557717323
|
0.00073
|
|
NM_000742.4(CHRNA2):c.684C>T (p.Ser228=)
|
rs143536618
|
0.00073
|
|
NM_001122752.2(SERPINI1):c.106C>A (p.Arg36Ser)
|
rs61735306
|
0.00073
|
|
NM_001134407.3(GRIN2A):c.*4229G>T
|
rs780459382
|
0.00073
|
|
NM_005045.4(RELN):c.1035A>G (p.Leu345=)
|
rs113998363
|
0.00072
|
|
NM_001134407.3(GRIN2A):c.*1684A>C
|
rs117255813
|
0.00071
|
|
NM_001242896.3(DEPDC5):c.1330G>A (p.Gly444Arg)
|
rs201394709
|
0.00071
|
|
NM_005045.4(RELN):c.8944G>A (p.Asp2982Asn)
|
rs148509350
|
0.00071
|
|
NM_198586.3(NHLRC1):c.*720T>C
|
rs141863990
|
0.00071
|
|
NM_000744.7(CHRNA4):c.1441G>A (p.Gly481Ser)
|
rs111969225
|
0.00070
|
|
NM_021267.5(CERS1):c.37C>T (p.Pro13Ser)
|
rs868136098
|
0.00070
|
|
NM_021267.5(CERS1):c.16C>A (p.Pro6Thr)
|
rs1041161328
|
0.00069
|
|
NM_198586.3(NHLRC1):c.*442G>C
|
rs555214908
|
0.00069
|
|
NM_000744.7(CHRNA4):c.1524C>T (p.Gly508=)
|
rs56069517
|
0.00068
|
|
NM_001134407.3(GRIN2A):c.*8753T>C
|
rs182174522
|
0.00068
|
|
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser)
|
rs77029288
|
0.00068
|
|
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu)
|
rs146579299
|
0.00068
|
|
NM_020822.3(KCNT1):c.3503-18C>T
|
rs373901872
|
0.00068
|
|
NM_020822.3(KCNT1):c.601-13C>G
|
rs202113794
|
0.00068
|
|
NM_153033.4(KCTD7):c.*3826G>C
|
rs182211775
|
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_000744.7(CHRNA4):c.1203G>C (p.Leu401=)
|
rs56142348
|
0.00066
|
|
NM_001161352.2(KCNMA1):c.*1284T>C
|
rs200045921
|
0.00066
|
|
NM_005076.5(CNTN2):c.1695G>A (p.Val565=)
|
rs148801784
|
0.00066
|
|
NM_021267.5(CERS1):c.787G>A (p.Val263Ile)
|
rs200539084
|
0.00065
|
|
NM_000742.4(CHRNA2):c.*1603C>A
|
rs535057169
|
0.00064
|
|
NM_000744.7(CHRNA4):c.258C>T (p.Asn86=)
|
rs140239470
|
0.00064
|
|
NM_001492.6(GDF1):c.-894A>G
|
rs200107216
|
0.00064
|
|
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_198859.4(PRICKLE2):c.1314G>C (p.Gln438His)
|
rs202170644
|
0.00064
|
|
NM_000742.4(CHRNA2):c.*771C>T
|
rs572058986
|
0.00063
|
|
NM_001122752.2(SERPINI1):c.218G>A (p.Arg73His)
|
rs139808176
|
0.00063
|
|
NM_001134407.3(GRIN2A):c.*6661G>A
|
rs185399319
|
0.00063
|
|
NM_001242896.3(DEPDC5):c.3567A>G (p.Thr1189=)
|
rs142197878
|
0.00063
|
|
NM_005045.4(RELN):c.9605+19T>C
|
rs202052256
|
0.00063
|
|
NM_018100.4(EFHC1):c.64-5T>C
|
rs201860746
|
0.00063
|
|
NM_198859.4(PRICKLE2):c.*3632T>C
|
rs140681630
|
0.00063
|
|
NM_005045.4(RELN):c.5615-12T>C
|
rs375680075
|
0.00062
|
|
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe)
|
rs138452760
|
0.00062
|
|
NM_000100.3(CSTB):c.*435G>A
|
rs149039598
|
0.00061
|
|
NM_001077350.3(NPRL3):c.189-15C>G
|
rs183021938
|
0.00061
|
|
NM_178013.4(PRIMA1):c.94-18G>A
|
rs138129679
|
0.00061
|
|
NM_001099403.2(PRDM8):c.721C>T (p.Pro241Ser)
|
rs201806195
|
0.00060
|
|
NM_001161352.2(KCNMA1):c.144T>C (p.Ser48=)
|
rs200608314
|
0.00060
|
|
NM_005506.4(SCARB2):c.424-4G>A
|
rs368869126
|
0.00060
|
|
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=)
|
rs77705198
|
0.00059
|
|
NM_001242896.3(DEPDC5):c.624+13_624+14del
|
rs777746872
|
0.00059
|
|
NM_018100.4(EFHC1):c.90G>A (p.Thr30=)
|
rs140429638
|
0.00059
|
|
NM_020822.3(KCNT1):c.1770-16C>T
|
rs192658955
|
0.00059
|
|
NM_198859.4(PRICKLE2):c.*4472G>T
|
rs575410668
|
0.00059
|
|
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp)
|
rs138682847
|
0.00058
|
|
NM_000748.3(CHRNB2):c.1482A>G (p.Ser494=)
|
rs8192486
|
0.00058
|
|
NM_001134407.3(GRIN2A):c.*525G>A
|
rs11575877
|
0.00058
|
|
NM_001242896.3(DEPDC5):c.3155A>G (p.Lys1052Arg)
|
rs200277794
|
0.00058
|
|
NM_153033.5(KCTD7):c.*1978A>T
|
rs537471141
|
0.00058
|
|
NM_005045.4(RELN):c.5961G>T (p.Lys1987Asn)
|
rs143948239
|
0.00057
|
|
NM_005670.4(EPM2A):c.681C>T (p.Ala227=)
|
rs61758156
|
0.00057
|
|
NM_020361.5(CPA6):c.932G>A (p.Arg311Gln)
|
rs143321447
|
0.00057
|
|
NM_020822.3(KCNT1):c.3685A>G (p.Thr1229Ala)
|
rs74533482
|
0.00057
|
|
NM_153033.5(KCTD7):c.*2988A>G
|
rs118004760
|
0.00057
|
|
NM_001134407.3(GRIN2A):c.*3220C>T
|
rs192984749
|
0.00056
|
|
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys)
|
rs199692186
|
0.00056
|
|
NM_005045.4(RELN):c.3147-4A>G
|
rs375230548
|
0.00056
|
|
NM_000742.4(CHRNA2):c.987C>T (p.Gly329=)
|
rs147530139
|
0.00055
|
|
NM_000744.7(CHRNA4):c.876C>T (p.Ile292=)
|
rs139694653
|
0.00055
|
|
NM_001134407.3(GRIN2A):c.3190A>G (p.Thr1064Ala)
|
rs138809301
|
0.00055
|
|
NM_004287.5(GOSR2):c.*2336A>T
|
rs569751775
|
0.00055
|
|
NM_005045.4(RELN):c.7644G>A (p.Ser2548=)
|
rs150743664
|
0.00055
|
|
NM_020822.3(KCNT1):c.2619C>T (p.Gly873=)
|
rs144659358
|
0.00055
|
|
NM_000748.3(CHRNB2):c.77C>T (p.Thr26Met)
|
rs71651692
|
0.00054
|
|
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly)
|
rs143166100
|
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_004287.5(GOSR2):c.*1703A>G
|
rs144662292
|
0.00053
|
|
NM_032737.4(LMNB2):c.401+12C>T
|
rs375417244
|
0.00053
|
|
NM_000742.4(CHRNA2):c.*1392A>G
|
rs564765220
|
0.00052
|
|
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_153033.5(KCTD7):c.*1839T>C
|
rs137946765
|
0.00052
|
|
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_000100.3(CSTB):c.*319G>A
|
rs536069557
|
0.00050
|
|
NM_005045.4(RELN):c.1386C>T (p.Cys462=)
|
rs139321058
|
0.00050
|
|
NM_005045.4(RELN):c.7580C>A (p.Ser2527Tyr)
|
rs114620403
|
0.00050
|
|
NM_018100.4(EFHC1):c.*527C>T
|
rs540732861
|
0.00050
|
|
NM_020822.3(KCNT1):c.3028-14T>G
|
rs539727852
|
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_177924.5(ASAH1):c.620A>T (p.Tyr207Phe)
|
rs150268016
|
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_014141.6(CNTNAP2):c.2651G>A (p.Arg884Gln)
|
rs758630057
|
0.00048
|
|
NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys)
|
rs147306623
|
0.00048
|
|
NM_198859.4(PRICKLE2):c.*2290T>C
|
rs192971326
|
0.00048
|
|
NM_198859.4(PRICKLE2):c.-258C>T
|
rs1044268884
|
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_005076.5(CNTN2):c.223A>G (p.Met75Val)
|
rs144767577
|
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_001099403.2(PRDM8):c.1412G>A (p.Ser471Asn)
|
rs575791037
|
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_005045.4(RELN):c.7114G>A (p.Val2372Met)
|
rs114344654
|
0.00046
|
|
NM_032737.4(LMNB2):c.265-19C>T
|
rs199577453
|
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_005076.5(CNTN2):c.63C>T (p.Ser21=)
|
rs149630443
|
0.00045
|
|
NM_001134407.3(GRIN2A):c.*6601G>C
|
rs565650930
|
0.00044
|
|
NM_001161352.2(KCNMA1):c.89A>G (p.His30Arg)
|
rs200474297
|
0.00044
|
|
NM_001122752.2(SERPINI1):c.-19+117A>G
|
rs145045884
|
0.00043
|
|
NM_001122752.2(SERPINI1):c.1183A>G (p.Met395Val)
|
rs144637103
|
0.00043
|
|
NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys)
|
rs146877597
|
0.00043
|
|
NM_005097.4(LGI1):c.717A>C (p.Ile239=)
|
rs146425212
|
0.00043
|
|
NM_020822.3(KCNT1):c.3502+12C>T
|
rs367727105
|
0.00043
|
|
NM_020822.3(KCNT1):c.760-19G>A
|
rs375929015
|
0.00043
|
|
NM_153033.5(KCTD7):c.*1926G>A
|
rs117267079
|
0.00043
|
|
NM_000726.5(CACNB4):c.*4976T>C
|
rs191424720
|
0.00042
|
|
NM_000726.5(CACNB4):c.*5562A>G
|
rs192309143
|
0.00042
|
|
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.3092C>A (p.Pro1031His)
|
rs376744360
|
0.00041
|
|
NM_001242896.3(DEPDC5):c.3805+10G>A
|
rs201608608
|
0.00041
|
|
NM_005045.4(RELN):c.5344C>T (p.Arg1782Cys)
|
rs138576725
|
0.00041
|
|
NM_005045.4(RELN):c.5822T>C (p.Val1941Ala)
|
rs149837553
|
0.00041
|
|
NM_005506.4(SCARB2):c.851A>C (p.Tyr284Ser)
|
rs149997095
|
0.00041
|
|
NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg)
|
rs374826256
|
0.00041
|
|
NM_005670.4(EPM2A):c.376A>G (p.Ile126Val)
|
rs150452237
|
0.00041
|
|
NM_020361.5(CPA6):c.*132C>T
|
rs193137313
|
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_000744.7(CHRNA4):c.1431G>A (p.Ala477=)
|
rs80307076
|
0.00040
|
|
NM_005670.4(EPM2A):c.718+19C>G
|
rs370750611
|
0.00040
|
|
NM_000726.5(CACNB4):c.*592T>C
|
rs779110885
|
0.00039
|
|
NM_000742.4(CHRNA2):c.1234G>A (p.Glu412Lys)
|
rs141721605
|
0.00039
|
|
NM_000748.3(CHRNB2):c.150C>T (p.Thr50=)
|
rs149921259
|
0.00039
|
|
NM_001099403.2(PRDM8):c.884A>C (p.His295Pro)
|
rs767560709
|
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_001242896.3(DEPDC5):c.1389C>T (p.Asp463=)
|
rs188147862
|
0.00039
|
|
NM_005045.4(RELN):c.7180+12G>A
|
rs142041722
|
0.00039
|
|
NM_020822.3(KCNT1):c.-1C>A
|
rs149383208
|
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_005045.4(RELN):c.6166C>T (p.Pro2056Ser)
|
rs200409290
|
0.00038
|
|
NM_005076.5(CNTN2):c.2132C>T (p.Ser711Leu)
|
rs114879710
|
0.00038
|
|
NM_153033.5(KCTD7):c.-69C>T
|
rs536230559
|
0.00038
|
|
NM_198586.3(NHLRC1):c.551A>G (p.Asn184Ser)
|
rs138667242
|
0.00038
|
|
NM_001134407.3(GRIN2A):c.-220C>T
|
rs139646156
|
0.00037
|
|
NM_001242896.3(DEPDC5):c.3315C>T (p.Ser1105=)
|
rs371969641
|
0.00037
|
|
NM_001242896.3(DEPDC5):c.3342C>T (p.Asp1114=)
|
rs774805884
|
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_153026.3(PRICKLE1):c.2269G>A (p.Glu757Lys)
|
rs145860632
|
0.00037
|
|
NM_153033.5(KCTD7):c.*221G>T
|
rs151151235
|
0.00037
|
|
NM_000726.5(CACNB4):c.*4131A>G
|
rs373381936
|
0.00036
|
|
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_001134407.3(GRIN2A):c.*3603C>T
|
rs760535393
|
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_020822.3(KCNT1):c.885G>A (p.Ala295=)
|
rs142756900
|
0.00036
|
|
NM_153033.5(KCTD7):c.*1587C>T
|
rs190087991
|
0.00036
|
|
NM_198859.4(PRICKLE2):c.*1868G>C
|
rs886058791
|
0.00036
|
|
NM_005076.5(CNTN2):c.2835C>T (p.Thr945=)
|
rs141466578
|
0.00035
|
|
NM_006922.4(SCN3A):c.5232A>G (p.Pro1744=)
|
rs144587694
|
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_000742.4(CHRNA2):c.*29G>A
|
rs186509115
|
0.00034
|
|
NM_001134407.3(GRIN2A):c.*7898A>G
|
rs530398129
|
0.00034
|
|
NM_001365999.1(SZT2):c.2812G>A (p.Ala938Thr)
|
rs143880787
|
0.00034
|
|
NM_004287.5(GOSR2):c.*2192T>G
|
rs545130658
|
0.00034
|
|
NM_005045.4(RELN):c.1483A>G (p.Ile495Val)
|
rs150850005
|
0.00034
|
|
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_005076.5(CNTN2):c.214C>T (p.Arg72Trp)
|
rs149564430
|
0.00034
|
|
NM_020822.3(KCNT1):c.1545C>T (p.Ala515=)
|
rs150905302
|
0.00034
|
|
NM_020822.3(KCNT1):c.2691G>A (p.Ala897=)
|
rs142642528
|
0.00034
|
|
NM_020822.3(KCNT1):c.3681C>T (p.Pro1227=)
|
rs149049198
|
0.00034
|
|
NM_032737.4(LMNB2):c.1751G>A (p.Arg584His)
|
rs377036714
|
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_005670.4(EPM2A):c.208G>C (p.Glu70Gln)
|
rs550455609
|
0.00032
|
|
NM_020822.3(KCNT1):c.1258C>T (p.Leu420=)
|
rs199996353
|
0.00032
|
|
NM_020822.3(KCNT1):c.1628A>G (p.Gln543Arg)
|
rs200173000
|
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_198859.4(PRICKLE2):c.*3830T>C
|
rs574878914
|
0.00032
|
|
NM_001077350.3(NPRL3):c.1268C>T (p.Pro423Leu)
|
rs200792895
|
0.00031
|
|
NM_001122752.2(SERPINI1):c.217C>T (p.Arg73Cys)
|
rs369596299
|
0.00031
|
|
NM_001134407.3(GRIN2A):c.*3018G>C
|
rs562770874
|
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_004287.5(GOSR2):c.509A>G (p.Asn170Ser)
|
rs150907052
|
0.00031
|
|
NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn)
|
rs150821246
|
0.00031
|
|
NM_005045.4(RELN):c.2446C>T (p.Leu816Phe)
|
rs144653976
|
0.00031
|
|
NM_005045.4(RELN):c.2944A>C (p.Ile982Leu)
|
rs143972828
|
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_005045.4(RELN):c.5668A>G (p.Ile1890Val)
|
rs147026512
|
0.00031
|
|
NM_005045.4(RELN):c.9340A>G (p.Ile3114Val)
|
rs149613347
|
0.00031
|
|
NM_005076.5(CNTN2):c.2469G>A (p.Gly823=)
|
rs138090348
|
0.00031
|
|
NM_005076.5(CNTN2):c.487+20C>A
|
rs201600070
|
0.00031
|
|
NM_020361.5(CPA6):c.-11_-10del
|
rs531326049
|
0.00031
|
|
NM_020822.3(KCNT1):c.1338-3C>T
|
rs369562243
|
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_000744.7(CHRNA4):c.462G>A (p.Pro154=)
|
rs121912245
|
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_001099403.2(PRDM8):c.329G>C (p.Gly110Ala)
|
rs200777615
|
0.00030
|
|
NM_001134407.3(GRIN2A):c.939C>T (p.Ile313=)
|
rs146867324
|
0.00030
|
|
NM_001161352.2(KCNMA1):c.*2138C>T
|
rs77051509
|
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_020822.3(KCNT1):c.2166G>A (p.Leu722=)
|
rs374347802
|
0.00030
|
|
NM_198586.3(NHLRC1):c.874A>T (p.Thr292Ser)
|
rs200214191
|
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_001042432.2(CLN3):c.242C>T (p.Pro81Leu)
|
rs137906617
|
0.00029
|
|
NM_001077350.3(NPRL3):c.442C>T (p.Arg148Cys)
|
rs201069648
|
0.00029
|
|
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_001242896.3(DEPDC5):c.1466G>A (p.Ser489Asn)
|
rs200209747
|
0.00029
|
|
NM_001242896.3(DEPDC5):c.193+12A>G
|
rs376099179
|
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.148G>A (p.Gly50Arg)
|
rs753397854
|
0.00029
|
|
NM_005670.4(EPM2A):c.849T>C (p.Tyr283=)
|
rs142027344
|
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_020822.3(KCNT1):c.334+10G>A
|
rs185209587
|
0.00029
|
|
NM_032737.4(LMNB2):c.982-4G>A
|
rs370025312
|
0.00029
|
|
NM_178013.4(PRIMA1):c.16T>G (p.Leu6Val)
|
rs186707302
|
0.00029
|
|
NM_198859.4(PRICKLE2):c.*3755A>G
|
rs756531877
|
0.00029
|
|
NM_000744.7(CHRNA4):c.1665C>T (p.Pro555=)
|
rs199829902
|
0.00028
|
|
NM_001077350.3(NPRL3):c.119-13C>T
|
rs370419688
|
0.00028
|
|
NM_001112741.2(KCNC1):c.677A>T (p.Asn226Ile)
|
rs73424032
|
0.00028
|
|
NM_001112741.2(KCNC1):c.750C>T (p.Gly250=)
|
rs147271572
|
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_020822.3(KCNT1):c.3555G>T (p.Pro1185=)
|
rs144068763
|
0.00028
|
|
NM_021267.5(CERS1):c.178C>T (p.Leu60=)
|
rs760185006
|
0.00028
|
|
NM_032737.4(LMNB2):c.11C>T (p.Pro4Leu)
|
rs1255813804
|
0.00028
|
|
NM_178013.4(PRIMA1):c.189G>A (p.Pro63=)
|
rs775188425
|
0.00028
|
|
NM_000100.4(CSTB):c.67-1G>C
|
rs147484110
|
0.00027
|
|
NM_000744.7(CHRNA4):c.1560C>T (p.Leu520=)
|
rs142646795
|
0.00027
|
|
NM_000744.7(CHRNA4):c.879C>T (p.Thr293=)
|
rs371527699
|
0.00027
|
|
NM_001077350.3(NPRL3):c.1351+7C>T
|
rs376215928
|
0.00027
|
|
NM_001077350.3(NPRL3):c.630-9T>C
|
rs374656133
|
0.00027
|
|
NM_001112741.2(KCNC1):c.1584C>T (p.Pro528=)
|
rs1044982783
|
0.00027
|
|
NM_001134407.3(GRIN2A):c.*539T>C
|
rs748101743
|
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_005076.5(CNTN2):c.2125+8T>A
|
rs572060537
|
0.00027
|
|
NM_020822.3(KCNT1):c.1104G>A (p.Ala368=)
|
rs146032445
|
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_000726.5(CACNB4):c.*1952C>A
|
rs764877003
|
0.00026
|
|
NM_000744.7(CHRNA4):c.1550C>T (p.Ser517Leu)
|
rs45622132
|
0.00026
|
|
NM_000744.7(CHRNA4):c.76+14C>A
|
rs6090386
|
0.00026
|
|
NM_001077350.3(NPRL3):c.745G>A (p.Glu249Lys)
|
rs200041907
|
0.00026
|
|
NM_001122752.2(SERPINI1):c.248A>T (p.Asn83Ile)
|
rs150681002
|
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_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.*1006G>A
|
rs200955430
|
0.00026
|
|
NM_001161352.2(KCNMA1):c.1737G>A (p.Arg579=)
|
rs76141718
|
0.00026
|
|
NM_001242896.3(DEPDC5):c.2035G>A (p.Gly679Ser)
|
rs748634683
|
0.00026
|
|
NM_001242896.3(DEPDC5):c.957G>A (p.Lys319=)
|
rs545689068
|
0.00026
|
|
NM_004287.5(GOSR2):c.336+1G>A
|
rs141554661
|
0.00026
|
|
NM_005045.4(RELN):c.2868C>T (p.His956=)
|
rs362694
|
0.00026
|
|
NM_005045.4(RELN):c.3060C>T (p.Asp1020=)
|
rs115886170
|
0.00026
|
|
NM_005045.4(RELN):c.4337A>G (p.Asn1446Ser)
|
rs115577014
|
0.00026
|
|
NM_005097.4(LGI1):c.1155A>C (p.Leu385=)
|
rs202148793
|
0.00026
|
|
NM_005506.4(SCARB2):c.275+7C>T
|
rs777137419
|
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.3496G>A (p.Gly1166Ser)
|
rs1201438079
|
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_178013.4(PRIMA1):c.228A>T (p.Pro76=)
|
rs368397994
|
0.00026
|
|
NM_198859.4(PRICKLE2):c.*3116C>T
|
rs1045343958
|
0.00026
|
|
NM_000742.4(CHRNA2):c.*386G>T
|
rs542172546
|
0.00025
|
|
NM_000742.4(CHRNA2):c.1437C>T (p.His479=)
|
rs374849310
|
0.00025
|
|
NM_000744.7(CHRNA4):c.1415C>T (p.Ser472Phe)
|
rs534477048
|
0.00025
|
|
NM_001099403.2(PRDM8):c.117T>C (p.Ala39=)
|
rs369098269
|
0.00025
|
|
NM_001134407.3(GRIN2A):c.*6846C>T
|
rs566418840
|
0.00025
|
|
NM_005045.4(RELN):c.1144-15T>C
|
rs2301560
|
0.00025
|
|
NM_005045.4(RELN):c.2954C>G (p.Ala985Gly)
|
rs138598422
|
0.00025
|
|
NM_005045.4(RELN):c.5711C>T (p.Thr1904Met)
|
rs114190729
|
0.00025
|
|
NM_005076.5(CNTN2):c.2544+3G>A
|
rs372920039
|
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.1247G>T (p.Arg416Leu)
|
rs200293412
|
0.00025
|
|
NM_032737.4(LMNB2):c.1368G>A (p.Thr456=)
|
rs138399575
|
0.00025
|
|
NM_032737.4(LMNB2):c.700C>T (p.Arg234Trp)
|
rs148936043
|
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_000748.3(CHRNB2):c.1407C>G (p.Val469=)
|
rs138886952
|
0.00024
|
|
NM_001099403.2(PRDM8):c.1727T>A (p.Leu576Gln)
|
rs562277889
|
0.00024
|
|
NM_001134407.3(GRIN2A):c.*8051A>C
|
rs918021343
|
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_001161352.2(KCNMA1):c.*1100C>T
|
rs199706896
|
0.00024
|
|
NM_001242896.3(DEPDC5):c.3021G>T (p.Arg1007=)
|
rs201690337
|
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_005045.4(RELN):c.59C>T (p.Thr20Met)
|
rs145135688
|
0.00024
|
|
NM_005045.4(RELN):c.6278A>C (p.His2093Pro)
|
rs149152189
|
0.00024
|
|
NM_018100.4(EFHC1):c.1675T>C (p.Leu559=)
|
rs145194882
|
0.00024
|
|
NM_020361.5(CPA6):c.1271C>T (p.Ala424Val)
|
rs72654981
|
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_020822.3(KCNT1):c.3495C>T (p.Thr1165=)
|
rs374429090
|
0.00024
|
|
NM_020822.3(KCNT1):c.3502+18G>A
|
rs374991913
|
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.*3483C>T
|
rs137977249
|
0.00023
|
|
NM_001134407.3(GRIN2A):c.2202C>G (p.Val734=)
|
rs367543138
|
0.00023
|
|
NM_001242896.3(DEPDC5):c.968A>G (p.Asn323Ser)
|
rs201776005
|
0.00023
|
|
NM_005670.4(EPM2A):c.143G>A (p.Gly48Asp)
|
rs946076987
|
0.00023
|
|
NM_020361.5(CPA6):c.-108G>A
|
rs188334231
|
0.00023
|
|
NM_020822.3(KCNT1):c.1620-16C>G
|
rs369334561
|
0.00023
|
|
NM_020822.3(KCNT1):c.3694G>A (p.Glu1232Lys)
|
rs138109494
|
0.00023
|
|
NM_198859.4(PRICKLE2):c.690C>T (p.Gly230=)
|
rs144338942
|
0.00023
|
|
NM_001134407.3(GRIN2A):c.3702C>T (p.Phe1234=)
|
rs372083517
|
0.00022
|
|
NM_005045.4(RELN):c.2303+14G>A
|
rs377268631
|
0.00022
|
|
NM_005045.4(RELN):c.6458G>A (p.Gly2153Asp)
|
rs144387303
|
0.00022
|
|
NM_153026.3(PRICKLE1):c.2439G>A (p.Arg813=)
|
rs138524511
|
0.00022
|
|
NM_198586.3(NHLRC1):c.969C>T (p.Ser323=)
|
rs142941035
|
0.00022
|
|
NM_000079.4(CHRNA1):c.319C>T (p.Arg107Cys)
|
rs140268343
|
0.00021
|
|
NM_000726.5(CACNB4):c.8C>T (p.Ser3Phe)
|
rs542973906
|
0.00021
|
|
NM_000744.7(CHRNA4):c.126G>A (p.Lys42=)
|
rs149588336
|
0.00021
|
|
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_000744.7(CHRNA4):c.296G>A (p.Arg99His)
|
rs143103435
|
0.00021
|
|
NM_000756.3(CRH):c.-365G>C
|
rs72556399
|
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_001242896.3(DEPDC5):c.2672G>C (p.Ser891Thr)
|
rs185576553
|
0.00021
|
|
NM_004287.5(GOSR2):c.*2291C>G
|
rs186093347
|
0.00021
|
|
NM_005045.4(RELN):c.1231C>A (p.Leu411Ile)
|
rs144978163
|
0.00021
|
|
NM_005045.4(RELN):c.6726G>C (p.Arg2242Ser)
|
rs201422815
|
0.00021
|
|
NM_018100.4(EFHC1):c.1587G>A (p.Ala529=)
|
rs377227885
|
0.00021
|
|
NM_018100.4(EFHC1):c.550G>T (p.Val184Phe)
|
rs558446131
|
0.00021
|
|
NM_020822.3(KCNT1):c.1008C>T (p.Cys336=)
|
rs540422455
|
0.00021
|
|
NM_020822.3(KCNT1):c.1620-17C>T
|
rs376069264
|
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_032737.4(LMNB2):c.1482+16G>A
|
rs183380570
|
0.00021
|
|
NM_153026.3(PRICKLE1):c.775+20G>A
|
rs190710237
|
0.00021
|
|
NM_153033.5(KCTD7):c.*1581C>G
|
rs570131389
|
0.00021
|
|
NM_198586.3(NHLRC1):c.178C>T (p.His60Tyr)
|
rs539307365
|
0.00021
|
|
NM_198586.3(NHLRC1):c.990G>A (p.Gln330=)
|
rs148553723
|
0.00021
|
|
NM_198859.4(PRICKLE2):c.*133G>A
|
rs370569305
|
0.00021
|
|
NM_198859.4(PRICKLE2):c.-146G>A
|
rs539401922
|
0.00021
|
|
NM_000742.4(CHRNA2):c.295-12T>G
|
rs369707163
|
0.00020
|
|
NM_001077350.3(NPRL3):c.767+19G>A
|
rs112754051
|
0.00020
|
|
NM_001242896.3(DEPDC5):c.1355C>T (p.Ala452Val)
|
rs202226316
|
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_198586.3(NHLRC1):c.*38G>T
|
rs377500729
|
0.00020
|
|
NM_000726.5(CACNB4):c.*4570T>C
|
rs549017506
|
0.00019
|
|
NM_000726.5(CACNB4):c.*4T>C
|
rs556761275
|
0.00019
|
|
NM_000726.5(CACNB4):c.*795T>G
|
rs766545084
|
0.00019
|
|
NM_000742.4(CHRNA2):c.1464+20G>A
|
rs377015162
|
0.00019
|
|
NM_001077350.3(NPRL3):c.1107C>T (p.Ser369=)
|
rs572375358
|
0.00019
|
|
NM_001112741.2(KCNC1):c.717C>T (p.Ala239=)
|
rs143670270
|
0.00019
|
|
NM_001122752.2(SERPINI1):c.-23G>A
|
rs886058166
|
0.00019
|
|
NM_001134407.3(GRIN2A):c.*8398G>A
|
rs886052517
|
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.*862A>G
|
rs199819984
|
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_001161352.2(KCNMA1):c.37G>A (p.Gly13Ser)
|
rs1568036609
|
0.00019
|
|
NM_001242896.3(DEPDC5):c.161A>C (p.Gln54Pro)
|
rs201312113
|
0.00019
|
|
NM_001242896.3(DEPDC5):c.3331-19A>G
|
rs377292271
|
0.00019
|
|
NM_001242896.3(DEPDC5):c.3643G>A (p.Val1215Met)
|
rs201603222
|
0.00019
|
|
NM_001242896.3(DEPDC5):c.3805+15G>A
|
rs200812216
|
0.00019
|
|
NM_001242896.3(DEPDC5):c.4391C>T (p.Thr1464Met)
|
rs556147064
|
0.00019
|
|
NM_005045.4(RELN):c.10016T>C (p.Met3339Thr)
|
rs150638029
|
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.4145+19A>G
|
rs200189547
|
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.5893C>A (p.Pro1965Thr)
|
rs370624724
|
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.1706T>C (p.Ile569Thr)
|
rs372229713
|
0.00019
|
|
NM_005076.5(CNTN2):c.2844+11A>C
|
rs377297728
|
0.00019
|
|
NM_005506.4(SCARB2):c.379G>T (p.Asp127Tyr)
|
rs148022786
|
0.00019
|
|
NM_005506.4(SCARB2):c.919G>A (p.Asp307Asn)
|
rs142392473
|
0.00019
|
|
NM_018100.4(EFHC1):c.661C>T (p.Arg221Cys)
|
rs139197513
|
0.00019
|
|
NM_018100.4(EFHC1):c.911A>G (p.Asn304Ser)
|
rs142107827
|
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_020822.3(KCNT1):c.474G>A (p.Ser158=)
|
rs139076605
|
0.00019
|
|
NM_032737.4(LMNB2):c.1049G>A (p.Arg350Gln)
|
rs754644849
|
0.00019
|
|
NM_032737.4(LMNB2):c.685-5C>T
|
rs369839679
|
0.00019
|
|
NM_153033.4(KCTD7):c.*3825T>A
|
rs768325782
|
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.*1315C>T
|
rs147816527
|
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.10093G>A (p.Val3365Ile)
|
rs115035120
|
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_032737.4(LMNB2):c.1681C>T (p.Arg561Cys)
|
rs751633226
|
0.00018
|
|
NM_178013.4(PRIMA1):c.252C>T (p.Pro84=)
|
rs140716518
|
0.00018
|
|
NM_198859.4(PRICKLE2):c.*3325G>A
|
rs531639386
|
0.00018
|
|
NM_001134407.3(GRIN2A):c.*1751G>A
|
rs1025593492
|
0.00017
|
|
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.6647G>A (p.Arg2216Gln)
|
rs200010849
|
0.00017
|
|
NM_005045.4(RELN):c.7107C>T (p.Asp2369=)
|
rs114339919
|
0.00017
|
|
NM_005076.5(CNTN2):c.3013+6G>C
|
rs781436489
|
0.00017
|
|
NM_005076.5(CNTN2):c.391+13G>A
|
rs200725113
|
0.00017
|
|
NM_153026.3(PRICKLE1):c.246+11A>T
|
rs138597448
|
0.00017
|
|
NM_153033.5(KCTD7):c.*2137T>C
|
rs138958447
|
0.00017
|
|
NM_198859.4(PRICKLE2):c.*1991C>T
|
rs570616523
|
0.00017
|
|
NM_198859.4(PRICKLE2):c.*4354C>G
|
rs186186236
|
0.00017
|
|
NM_000100.3(CSTB):c.-42C>T
|
rs776181852
|
0.00016
|
|
NM_000744.7(CHRNA4):c.1448G>A (p.Arg483Gln)
|
rs55855125
|
0.00016
|
|
NM_000748.3(CHRNB2):c.1234G>A (p.Gly412Ser)
|
rs774449832
|
0.00016
|
|
NM_000748.3(CHRNB2):c.483C>T (p.His161=)
|
rs190967991
|
0.00016
|
|
NM_001077350.3(NPRL3):c.1356C>T (p.Ser452=)
|
rs373792025
|
0.00016
|
|
NM_001134407.3(GRIN2A):c.*3116C>G
|
rs987362569
|
0.00016
|
|
NM_001134407.3(GRIN2A):c.*5996C>T
|
rs548588993
|
0.00016
|
|
NM_001134407.3(GRIN2A):c.*6596C>T
|
rs375205206
|
0.00016
|
|
NM_001242896.3(DEPDC5):c.3022-16C>T
|
rs76841380
|
0.00016
|
|
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu)
|
rs79027628
|
0.00016
|
|
NM_004287.5(GOSR2):c.*1446A>T
|
rs572361575
|
0.00016
|
|
NM_004287.5(GOSR2):c.64C>T (p.Leu22=)
|
rs770760366
|
0.00016
|
|
NM_004287.5(GOSR2):c.94+7A>C
|
rs376231923
|
0.00016
|
|
NM_004519.4(KCNQ3):c.1885G>C (p.Val629Leu)
|
rs185511111
|
0.00016
|
|
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu)
|
rs201044262
|
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.4354G>A (p.Asp1452Asn)
|
rs114446781
|
0.00016
|
|
NM_005045.4(RELN):c.5088T>C (p.Leu1696=)
|
rs114551393
|
0.00016
|
|
NM_005045.4(RELN):c.5589G>T (p.Gln1863His)
|
rs774354428
|
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_005045.4(RELN):c.8844-20T>C
|
rs142002220
|
0.00016
|
|
NM_005076.5(CNTN2):c.1755C>T (p.Tyr585=)
|
rs575768659
|
0.00016
|
|
NM_005076.5(CNTN2):c.1820C>T (p.Pro607Leu)
|
rs140570612
|
0.00016
|
|
NM_005097.4(LGI1):c.1062T>G (p.Ala354=)
|
rs768151875
|
0.00016
|
|
NM_005097.4(LGI1):c.588A>G (p.Glu196=)
|
rs149816434
|
0.00016
|
|
NM_005506.4(SCARB2):c.1328T>C (p.Met443Thr)
|
rs141250135
|
0.00016
|
|
NM_005506.4(SCARB2):c.228C>T (p.Leu76=)
|
rs35069772
|
0.00016
|
|
NM_005506.4(SCARB2):c.244C>T (p.Arg82Trp)
|
rs142690468
|
0.00016
|
|
NM_005506.4(SCARB2):c.277G>A (p.Glu93Lys)
|
rs145870223
|
0.00016
|
|
NM_006922.4(SCN3A):c.2003G>A (p.Gly668Glu)
|
rs199975643
|
0.00016
|
|
NM_016373.4(WWOX):c.1222C>T (p.Arg408Trp)
|
rs144234059
|
0.00016
|
|
NM_016373.4(WWOX):c.990C>G (p.Asn330Lys)
|
rs117209694
|
0.00016
|
|
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)
|
rs139003032
|
0.00016
|
|
NM_020822.3(KCNT1):c.2008+19G>A
|
rs369119562
|
0.00016
|
|
NM_020822.3(KCNT1):c.2118G>A (p.Arg706=)
|
rs766746716
|
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.257C>T (p.Ala86Val)
|
rs374895377
|
0.00016
|
|
NM_021267.5(CERS1):c.912G>A (p.Ala304=)
|
rs369177504
|
0.00016
|
|
NM_032737.4(LMNB2):c.1256C>T (p.Ser419Leu)
|
rs368949581
|
0.00016
|
|
NM_032737.4(LMNB2):c.1285G>A (p.Gly429Arg)
|
rs760709933
|
0.00016
|
|
NM_032737.4(LMNB2):c.1406C>T (p.Ser469Leu)
|
rs369942106
|
0.00016
|
|
NM_032737.4(LMNB2):c.715C>T (p.Arg239Trp)
|
rs375872872
|
0.00016
|
|
NM_153026.3(PRICKLE1):c.1608G>A (p.Ser536=)
|
rs144062651
|
0.00016
|
|
NM_153033.5(KCTD7):c.-155G>C
|
rs886062408
|
0.00016
|
|
NM_153033.5(KCTD7):c.133C>T (p.Leu45=)
|
rs587780370
|
0.00016
|
|
NM_153033.5(KCTD7):c.361C>T (p.Arg121Cys)
|
rs199604642
|
0.00016
|
|
NM_000100.3(CSTB):c.*334G>A
|
rs533969154
|
0.00015
|
|
NM_000742.4(CHRNA2):c.173C>T (p.Thr58Ile)
|
rs151268950
|
0.00015
|
|
NM_001134407.3(GRIN2A):c.*7089T>C
|
rs148328605
|
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_005670.4(EPM2A):c.488A>G (p.Asn163Ser)
|
rs141919651
|
0.00015
|
|
NM_018100.4(EFHC1):c.1369C>T (p.Arg457Cys)
|
rs373196171
|
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.1482+11A>T
|
rs202063885
|
0.00015
|
|
NM_032737.4(LMNB2):c.265-6C>T
|
rs267607650
|
0.00015
|
|
NM_153026.3(PRICKLE1):c.1222T>C (p.Trp408Arg)
|
rs376384105
|
0.00015
|
|
NM_000726.5(CACNB4):c.*1009C>T
|
rs367723727
|
0.00014
|
|
NM_000742.4(CHRNA2):c.-544C>T
|
rs886062851
|
0.00014
|
|
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_000744.7(CHRNA4):c.384-17G>A
|
rs200449795
|
0.00014
|
|
NM_001077350.3(NPRL3):c.1197G>A (p.Gln399=)
|
rs369473961
|
0.00014
|
|
NM_001077350.3(NPRL3):c.251T>G (p.Phe84Cys)
|
rs560167568
|
0.00014
|
|
NM_001077350.3(NPRL3):c.394-13C>G
|
rs376971014
|
0.00014
|
|
NM_001077350.3(NPRL3):c.597G>C (p.Lys199Asn)
|
rs186859701
|
0.00014
|
|
NM_001122752.2(SERPINI1):c.990G>T (p.Glu330Asp)
|
rs372246975
|
0.00014
|
|
NM_001127644.2(GABRA1):c.-4C>T
|
rs375475234
|
0.00014
|
|
NM_001134407.3(GRIN2A):c.*5006G>A
|
rs773012536
|
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_001161352.2(KCNMA1):c.*1529C>T
|
rs200493344
|
0.00014
|
|
NM_001242896.3(DEPDC5):c.258T>C (p.Tyr86=)
|
rs201609075
|
0.00014
|
|
NM_001242896.3(DEPDC5):c.2591C>T (p.Thr864Met)
|
rs564667614
|
0.00014
|
|
NM_001242896.3(DEPDC5):c.4689A>G (p.Thr1563=)
|
rs368010039
|
0.00014
|
|
NM_001365536.1(SCN9A):c.1846G>A (p.Gly616Arg)
|
rs201338643
|
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.4893C>G (p.Asp1631Glu)
|
rs201296719
|
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_005076.5(CNTN2):c.2677C>T (p.Arg893Trp)
|
rs149814483
|
0.00014
|
|
NM_005506.4(SCARB2):c.424-5C>T
|
rs192876326
|
0.00014
|
|
NM_005670.4(EPM2A):c.776G>A (p.Gly259Glu)
|
rs200641543
|
0.00014
|
|
NM_020822.3(KCNT1):c.1394C>T (p.Thr465Met)
|
rs539139475
|
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_024700.4(SNIP1):c.331C>T (p.Arg111Cys)
|
rs202020647
|
0.00014
|
|
NM_032737.4(LMNB2):c.1483-20G>A
|
rs371984370
|
0.00014
|
|
NM_032737.4(LMNB2):c.264+15T>C
|
rs541933564
|
0.00014
|
|
NM_032737.4(LMNB2):c.692G>A (p.Arg231Gln)
|
rs754946662
|
0.00014
|
|
NM_153026.3(PRICKLE1):c.1547G>C (p.Trp516Ser)
|
rs139901494
|
0.00014
|
|
NM_153033.5(KCTD7):c.*1404G>A
|
rs1007951856
|
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_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_000100.4(CSTB):c.-12G>A
|
rs779920568
|
0.00013
|
|
NM_000742.4(CHRNA2):c.401G>A (p.Arg134Lys)
|
rs150112824
|
0.00013
|
|
NM_000744.7(CHRNA4):c.1373C>T (p.Pro458Leu)
|
rs121912277
|
0.00013
|
|
NM_000744.7(CHRNA4):c.1459C>T (p.Arg487Trp)
|
rs200200279
|
0.00013
|
|
NM_000756.4(CRH):c.89C>G (p.Pro30Arg)
|
rs748404250
|
0.00013
|
|
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_001099403.2(PRDM8):c.973G>A (p.Gly325Ser)
|
rs773668859
|
0.00013
|
|
NM_001112741.2(KCNC1):c.1505-9dup
|
rs760343215
|
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_001122752.2(SERPINI1):c.508A>G (p.Arg170Gly)
|
rs774989939
|
0.00013
|
|
NM_001134407.3(GRIN2A):c.*4207G>A
|
rs747470370
|
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.1708C>G (p.His570Asp)
|
rs374546580
|
0.00013
|
|
NM_005045.4(RELN):c.5398C>G (p.Leu1800Val)
|
rs150148125
|
0.00013
|
|
NM_005045.4(RELN):c.5969C>T (p.Pro1990Leu)
|
rs149473868
|
0.00013
|
|
NM_005045.4(RELN):c.6854G>T (p.Arg2285Leu)
|
rs116394157
|
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_005076.5(CNTN2):c.1367C>T (p.Thr456Met)
|
rs770143299
|
0.00013
|
|
NM_005076.5(CNTN2):c.1411G>A (p.Gly471Ser)
|
rs191357187
|
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_018941.4(CLN8):c.200C>T (p.Ala67Val)
|
rs373957283
|
0.00013
|
|
NM_021267.5(CERS1):c.289G>A (p.Ala97Thr)
|
rs374076863
|
0.00013
|
|
NM_021267.5(CERS1):c.519C>A (p.Arg173=)
|
rs575712132
|
0.00013
|
|
NM_021267.5(CERS1):c.685G>A (p.Gly229Ser)
|
rs373056917
|
0.00013
|
|
NM_021267.5(CERS1):c.708T>A (p.His236Gln)
|
rs902153714
|
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_153033.5(KCTD7):c.*668T>G
|
rs765653009
|
0.00013
|
|
NM_153033.5(KCTD7):c.-49C>T
|
rs374505432
|
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_198586.3(NHLRC1):c.977C>A (p.Thr326Asn)
|
rs770587249
|
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_000726.5(CACNB4):c.*3475A>T
|
rs567549082
|
0.00012
|
|
NM_001077350.3(NPRL3):c.188+13C>T
|
rs373318523
|
0.00012
|
|
NM_001077350.3(NPRL3):c.225C>G (p.Thr75=)
|
rs372639365
|
0.00012
|
|
NM_001077350.3(NPRL3):c.439C>T (p.Arg147Cys)
|
rs202129021
|
0.00012
|
|
NM_001077350.3(NPRL3):c.997G>A (p.Val333Ile)
|
rs367664536
|
0.00012
|
|
NM_001099403.2(PRDM8):c.219+17G>A
|
rs374010085
|
0.00012
|
|
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_001134407.3(GRIN2A):c.2008-14C>T
|
rs375126711
|
0.00012
|
|
NM_001134407.3(GRIN2A):c.4356C>G (p.Arg1452=)
|
rs140093291
|
0.00012
|
|
NM_001161352.2(KCNMA1):c.62G>A (p.Ser21Asn)
|
rs794726902
|
0.00012
|
|
NM_001161352.2(KCNMA1):c.711C>T (p.Asn237=)
|
rs139309224
|
0.00012
|
|
NM_001492.6(GDF1):c.925T>C (p.Ser309Pro)
|
rs864622513
|
0.00012
|
|
NM_004287.5(GOSR2):c.552G>T (p.Lys184Asn)
|
rs760846460
|
0.00012
|
|
NM_005045.4(RELN):c.113T>A (p.Phe38Tyr)
|
rs149715692
|
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_005045.4(RELN):c.6200C>T (p.Ser2067Phe)
|
rs368566543
|
0.00012
|
|
NM_005045.4(RELN):c.7268G>A (p.Arg2423His)
|
rs140660860
|
0.00012
|
|
NM_005506.4(SCARB2):c.1262C>T (p.Thr421Met)
|
rs149474488
|
0.00012
|
|
NM_005506.4(SCARB2):c.38C>T (p.Ser13Phe)
|
rs144791636
|
0.00012
|
|
NM_005506.4(SCARB2):c.430A>T (p.Ile144Leu)
|
rs117600063
|
0.00012
|
|
NM_005670.4(EPM2A):c.410A>G (p.Asn137Ser)
|
rs61757376
|
0.00012
|
|
NM_018100.4(EFHC1):c.*2211C>T
|
rs753392817
|
0.00012
|
|
NM_018100.4(EFHC1):c.817G>T (p.Val273Leu)
|
rs369926953
|
0.00012
|
|
NM_020822.3(KCNT1):c.1149C>T (p.Ile383=)
|
rs144977019
|
0.00012
|
|
NM_020822.3(KCNT1):c.1182C>T (p.Tyr394=)
|
rs372491855
|
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.3598C>T (p.Arg1200Cys)
|
rs372028322
|
0.00012
|
|
NM_020822.3(KCNT1):c.477C>G (p.Ser159=)
|
rs200157100
|
0.00012
|
|
NM_021267.5(CERS1):c.911C>T (p.Ala304Val)
|
rs373927986
|
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_153026.3(PRICKLE1):c.25A>G (p.Met9Val)
|
rs566073131
|
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.*1910_*1911del
|
rs372743707
|
0.00011
|
|
NM_000726.5(CACNB4):c.*4145T>C
|
rs781255950
|
0.00011
|
|
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_000744.7(CHRNA4):c.948C>T (p.Phe316=)
|
rs121912259
|
0.00011
|
|
NM_000748.3(CHRNB2):c.109C>T (p.Leu37=)
|
rs71651693
|
0.00011
|
|
NM_001077350.3(NPRL3):c.1192C>T (p.Leu398=)
|
rs575256508
|
0.00011
|
|
NM_001077350.3(NPRL3):c.14C>T (p.Thr5Ile)
|
rs776554504
|
0.00011
|
|
NM_001099403.2(PRDM8):c.1530G>T (p.Gln510His)
|
rs750341856
|
0.00011
|
|
NM_001112741.2(KCNC1):c.1657G>A (p.Glu553Lys)
|
rs531563186
|
0.00011
|
|
NM_001122752.2(SERPINI1):c.286A>G (p.Met96Val)
|
rs372528371
|
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_001134407.3(GRIN2A):c.*4703C>T
|
rs141406777
|
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.2066A>C (p.Glu689Ala)
|
rs370940232
|
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.3805+14C>T
|
rs376135083
|
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.10322G>A (p.Arg3441Gln)
|
rs116463039
|
0.00011
|
|
NM_005045.4(RELN):c.1336G>C (p.Glu446Gln)
|
rs56146903
|
0.00011
|
|
NM_005045.4(RELN):c.3667A>G (p.Lys1223Glu)
|
rs200269227
|
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.6925G>A (p.Asp2309Asn)
|
rs138978280
|
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_005076.5(CNTN2):c.1295G>A (p.Arg432His)
|
rs200098924
|
0.00011
|
|
NM_005076.5(CNTN2):c.2629G>A (p.Gly877Ser)
|
rs146145490
|
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_005506.4(SCARB2):c.1210A>G (p.Met404Val)
|
rs147142116
|
0.00011
|
|
NM_005506.4(SCARB2):c.194A>G (p.Tyr65Cys)
|
rs138955932
|
0.00011
|
|
NM_005670.4(EPM2A):c.102G>C (p.Pro34=)
|
rs1014133463
|
0.00011
|
|
NM_005670.4(EPM2A):c.490A>G (p.Ile164Val)
|
rs199856913
|
0.00011
|
|
NM_005670.4(EPM2A):c.644A>T (p.Asp215Val)
|
rs144565191
|
0.00011
|
|
NM_005670.4(EPM2A):c.743C>T (p.Ala248Val)
|
rs374043005
|
0.00011
|
|
NM_015973.5(GAL):c.199C>T (p.Arg67Trp)
|
rs200075890
|
0.00011
|
|
NM_015973.5(GAL):c.339C>T (p.Ala113=)
|
rs147742577
|
0.00011
|
|
NM_020361.4(CPA6):c.-247C>A
|
rs530580560
|
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.1770G>A (p.Lys590=)
|
rs745575483
|
0.00011
|
|
NM_020822.3(KCNT1):c.2217G>A (p.Ser739=)
|
rs143678590
|
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_021267.5(CERS1):c.95C>T (p.Ala32Val)
|
rs1387898936
|
0.00011
|
|
NM_032737.4(LMNB2):c.1063G>A (p.Ala355Thr)
|
rs143717863
|
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_032737.4(LMNB2):c.329C>T (p.Thr110Met)
|
rs371789042
|
0.00011
|
|
NM_153026.3(PRICKLE1):c.1412T>C (p.Met471Thr)
|
rs777597253
|
0.00011
|
|
NM_153026.3(PRICKLE1):c.1601G>A (p.Arg534Gln)
|
rs756192425
|
0.00011
|
|
NM_153026.3(PRICKLE1):c.1647G>A (p.Ser549=)
|
rs149518219
|
0.00011
|
|
NM_153026.3(PRICKLE1):c.391T>G (p.Leu131Val)
|
rs35731866
|
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.-90G>A
|
rs1031117251
|
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_198859.4(PRICKLE2):c.*1982A>G
|
rs377752523
|
0.00011
|
|
NM_000100.4(CSTB):c.145G>A (p.Ala49Thr)
|
rs559906825
|
0.00010
|
|
NM_000742.4(CHRNA2):c.*997C>G
|
rs539161001
|
0.00010
|
|
NM_000742.4(CHRNA2):c.182G>A (p.Arg61Gln)
|
rs568479156
|
0.00010
|
|
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_000748.3(CHRNB2):c.1046T>C (p.Met349Thr)
|
rs141735618
|
0.00010
|
|
NM_001077350.3(NPRL3):c.318+8T>G
|
rs370788298
|
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_001134407.3(GRIN2A):c.1006C>T (p.Pro336Ser)
|
rs148511104
|
0.00010
|
|
NM_001134407.3(GRIN2A):c.3535T>G (p.Ser1179Ala)
|
rs142670870
|
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_001365999.1(SZT2):c.5515C>T (p.Arg1839Cys)
|
rs147748994
|
0.00010
|
|
NM_003114.5(SPAG1):c.2014C>T (p.Gln672Ter)
|
rs201740530
|
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.1655T>C (p.Val552Ala)
|
rs144116037
|
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.6853C>T (p.Arg2285Cys)
|
rs144565023
|
0.00010
|
|
NM_005045.4(RELN):c.7350-15T>C
|
rs532399420
|
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.235G>A (p.Glu79Lys)
|
rs377098737
|
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_005097.4(LGI1):c.1106C>T (p.Ser369Phe)
|
rs150357603
|
0.00010
|
|
NM_005506.4(SCARB2):c.1136C>T (p.Ala379Val)
|
rs144147706
|
0.00010
|
|
NM_005506.4(SCARB2):c.1265C>T (p.Ala422Val)
|
rs756606813
|
0.00010
|
|
NM_005506.4(SCARB2):c.1407G>A (p.Ala469=)
|
rs144878666
|
0.00010
|
|
NM_005506.4(SCARB2):c.826T>G (p.Ser276Ala)
|
rs188036542
|
0.00010
|
|
NM_005670.4(EPM2A):c.157G>A (p.Ala53Thr)
|
rs763719276
|
0.00010
|
|
NM_005670.4(EPM2A):c.49C>G (p.Arg17Gly)
|
rs767010700
|
0.00010
|
|
NM_005670.4(EPM2A):c.736C>T (p.Pro246Ser)
|
rs141975071
|
0.00010
|
|
NM_014141.6(CNTNAP2):c.755-5C>T
|
rs369675346
|
0.00010
|
|
NM_015973.5(GAL):c.166G>A (p.Asp56Asn)
|
rs149894151
|
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_018100.4(EFHC1):c.484C>T (p.His162Tyr)
|
rs112800954
|
0.00010
|
|
NM_018100.4(EFHC1):c.731G>A (p.Arg244Gln)
|
rs140476054
|
0.00010
|
|
NM_018100.4(EFHC1):c.912T>C (p.Asn304=)
|
rs373638109
|
0.00010
|
|
NM_018941.4(CLN8):c.53A>T (p.Tyr18Phe)
|
rs142104002
|
0.00010
|
|
NM_018941.4(CLN8):c.59C>G (p.Ser20Cys)
|
rs749651452
|
0.00010
|
|
NM_020361.5(CPA6):c.581G>A (p.Gly194Asp)
|
rs201589247
|
0.00010
|
|
NM_020822.3(KCNT1):c.1337+16C>T
|
rs369329858
|
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.575C>T (p.Ser192Phe)
|
rs1009080328
|
0.00010
|
|
NM_021267.5(CERS1):c.663C>T (p.Leu221=)
|
rs535134210
|
0.00010
|
|
NM_032737.4(LMNB2):c.1378G>A (p.Gly460Ser)
|
rs566078588
|
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.71C>A (p.Pro24Gln)
|
rs1188775924
|
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_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_153033.5(KCTD7):c.193C>T (p.Arg65Cys)
|
rs200321023
|
0.00010
|
|
NM_178013.4(PRIMA1):c.295G>A (p.Val99Ile)
|
rs200260569
|
0.00010
|
|
NM_198859.4(PRICKLE2):c.*1568C>T
|
rs558482444
|
0.00010
|
|
NM_198859.4(PRICKLE2):c.*4769A>G
|
rs981163962
|
0.00010
|
|
NM_000100.4(CSTB):c.183C>T (p.Asp61=)
|
rs772899788
|
0.00009
|
|
NM_000726.5(CACNB4):c.*4919G>A
|
rs763593694
|
0.00009
|
|
NM_000726.5(CACNB4):c.*5487T>C
|
rs111700454
|
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.1084C>T (p.Arg362Cys)
|
rs199928622
|
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.1297C>T (p.Arg433Trp)
|
rs372094629
|
0.00009
|
|
NM_001077350.3(NPRL3):c.156C>T (p.Gly52=)
|
rs369462371
|
0.00009
|
|
NM_001099403.2(PRDM8):c.1235A>T (p.Glu412Val)
|
rs1032197214
|
0.00009
|
|
NM_001099403.2(PRDM8):c.1367G>A (p.Arg456Lys)
|
rs940171879
|
0.00009
|
|
NM_001099403.2(PRDM8):c.1408G>A (p.Gly470Ser)
|
rs932918812
|
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.421G>T (p.Asp141Tyr)
|
rs376363769
|
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.*5112C>T
|
rs553874602
|
0.00009
|
|
NM_001134407.3(GRIN2A):c.*6451C>T
|
rs199950051
|
0.00009
|
|
NM_001134407.3(GRIN2A):c.1007+13T>G
|
rs199862009
|
0.00009
|
|
NM_001134407.3(GRIN2A):c.1057G>A (p.Glu353Lys)
|
rs373239575
|
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.*497A>G
|
rs200933957
|
0.00009
|
|
NM_001161352.2(KCNMA1):c.-25C>T
|
rs373677230
|
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.16G>A (p.Gly6Ser)
|
rs914048941
|
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_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.3013A>G (p.Met1005Val)
|
rs367860294
|
0.00009
|
|
NM_001242896.3(DEPDC5):c.3054T>C (p.Thr1018=)
|
rs372062387
|
0.00009
|
|
NM_001242896.3(DEPDC5):c.4733A>G (p.Asp1578Gly)
|
rs201347461
|
0.00009
|
|
NM_001242896.3(DEPDC5):c.711A>C (p.Ile237=)
|
rs368571578
|
0.00009
|
|
NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu)
|
rs755088564
|
0.00009
|
|
NM_001365536.1(SCN9A):c.3349G>T (p.Val1117Leu)
|
rs200817435
|
0.00009
|
|
NM_004287.5(GOSR2):c.203+3A>G
|
rs201423456
|
0.00009
|
|
NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp)
|
rs387906881
|
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.4843G>C (p.Asp1615His)
|
rs375040526
|
0.00009
|
|
NM_005045.4(RELN):c.576A>G (p.Leu192=)
|
rs142874980
|
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_005076.5(CNTN2):c.2464A>C (p.Lys822Gln)
|
rs141428194
|
0.00009
|
|
NM_005076.5(CNTN2):c.424C>T (p.Pro142Ser)
|
rs143259493
|
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.275+20T>C
|
rs377180838
|
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_005506.4(SCARB2):c.80G>A (p.Arg27Gln)
|
rs368906199
|
0.00009
|
|
NM_006922.4(SCN3A):c.2391+3A>G
|
rs369416840
|
0.00009
|
|
NM_015973.5(GAL):c.137-2A>G
|
rs762777313
|
0.00009
|
|
NM_018100.4(EFHC1):c.1385T>C (p.Ile462Thr)
|
rs200116252
|
0.00009
|
|
NM_018100.4(EFHC1):c.1768G>C (p.Ala590Pro)
|
rs749376467
|
0.00009
|
|
NM_018100.4(EFHC1):c.574G>A (p.Val192Ile)
|
rs781665913
|
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.2008+10G>C
|
rs752453368
|
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.2349+11C>T
|
rs374140862
|
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.3039C>T (p.Thr1013=)
|
rs148001061
|
0.00009
|
|
NM_020822.3(KCNT1):c.981G>A (p.Ser327=)
|
rs373317695
|
0.00009
|
|
NM_021267.5(CERS1):c.493G>A (p.Ala165Thr)
|
rs45524532
|
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_032737.4(LMNB2):c.514G>A (p.Gly172Ser)
|
rs145110937
|
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_153026.3(PRICKLE1):c.824C>T (p.Thr275Met)
|
rs559947948
|
0.00009
|
|
NM_198586.3(NHLRC1):c.1091C>T (p.Ser364Leu)
|
rs78324544
|
0.00009
|
|
NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala)
|
rs28940576
|
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_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_000744.7(CHRNA4):c.402G>A (p.Ala134=)
|
rs201488442
|
0.00008
|
|
NM_000748.3(CHRNB2):c.1488C>T (p.His496=)
|
rs200582284
|
0.00008
|
|
NM_000748.3(CHRNB2):c.211-13T>C
|
rs201514937
|
0.00008
|
|
NM_001077350.3(NPRL3):c.1329C>T (p.Asn443=)
|
rs559760517
|
0.00008
|
|
NM_001077350.3(NPRL3):c.768-15G>A
|
rs189005933
|
0.00008
|
|
NM_001099403.2(PRDM8):c.1621G>T (p.Ala541Ser)
|
rs371675673
|
0.00008
|
|
NM_001099403.2(PRDM8):c.1651G>A (p.Gly551Arg)
|
rs762888947
|
0.00008
|
|
NM_001134407.3(GRIN2A):c.*6449G>T
|
rs140145510
|
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.3635C>T (p.Thr1212Ile)
|
rs200773083
|
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.233G>C (p.Arg78Pro)
|
rs373578854
|
0.00008
|
|
NM_001242896.3(DEPDC5):c.2973G>A (p.Glu991=)
|
rs370906184
|
0.00008
|
|
NM_001242896.3(DEPDC5):c.791G>A (p.Arg264Lys)
|
rs750467533
|
0.00008
|
|
NM_001242896.3(DEPDC5):c.947-15T>C
|
rs755645969
|
0.00008
|
|
NM_002247.3(KCNMA1):c.-175C>A
|
rs184782926
|
0.00008
|
|
NM_005045.4(RELN):c.2637C>T (p.Val879=)
|
rs544717229
|
0.00008
|
|
NM_005045.4(RELN):c.5935G>A (p.Gly1979Ser)
|
rs139892362
|
0.00008
|
|
NM_005045.4(RELN):c.697G>A (p.Ala233Thr)
|
rs181961566
|
0.00008
|
|
NM_005045.4(RELN):c.8667+9_8667+13del
|
rs755797350
|
0.00008
|
|
NM_005045.4(RELN):c.9708C>T (p.Ser3236=)
|
rs200370282
|
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_005506.4(SCARB2):c.1010T>C (p.Met337Thr)
|
rs147324129
|
0.00008
|
|
NM_005670.4(EPM2A):c.222C>G (p.Asp74Glu)
|
rs748273406
|
0.00008
|
|
NM_018100.4(EFHC1):c.1058G>A (p.Arg353Gln)
|
rs377732929
|
0.00008
|
|
NM_018100.4(EFHC1):c.1892A>G (p.Tyr631Cys)
|
rs574948354
|
0.00008
|
|
NM_018100.4(EFHC1):c.266A>G (p.His89Arg)
|
rs543160745
|
0.00008
|
|
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln)
|
rs145754721
|
0.00008
|
|
NM_018100.4(EFHC1):c.89C>T (p.Thr30Met)
|
rs200435907
|
0.00008
|
|
NM_018941.4(CLN8):c.300G>A (p.Gln100=)
|
rs148988002
|
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.1718G>A (p.Arg573His)
|
rs575162600
|
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.3588C>T (p.Val1196=)
|
rs758308334
|
0.00008
|
|
NM_020822.3(KCNT1):c.434+10G>A
|
rs187872786
|
0.00008
|
|
NM_021267.5(CERS1):c.164T>A (p.Leu55Gln)
|
rs918114133
|
0.00008
|
|
NM_021267.5(CERS1):c.857C>T (p.Ala286Val)
|
rs559340743
|
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.1711-7C>T
|
rs200122476
|
0.00008
|
|
NM_032737.4(LMNB2):c.281C>T (p.Ala94Val)
|
rs778299381
|
0.00008
|
|
NM_032737.4(LMNB2):c.403G>A (p.Ala135Thr)
|
rs372474156
|
0.00008
|
|
NM_032737.4(LMNB2):c.428C>T (p.Thr143Met)
|
rs375961613
|
0.00008
|
|
NM_032737.4(LMNB2):c.542G>A (p.Arg181Gln)
|
rs781346530
|
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.275G>A (p.Arg92Gln)
|
rs367729589
|
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_001122752.2(SERPINI1):c.251-10C>G
|
rs200606523
|
0.00007
|
|
NM_001134407.3(GRIN2A):c.*1137T>C
|
rs756637069
|
0.00007
|
|
NM_001134407.3(GRIN2A):c.*6865T>G
|
rs879478291
|
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.3795G>T (p.Gln1265His)
|
rs147556384
|
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.130C>G (p.Pro44Ala)
|
rs756878843
|
0.00007
|
|
NM_001242896.3(DEPDC5):c.146+5G>A
|
rs748264035
|
0.00007
|
|
NM_001242896.3(DEPDC5):c.2576C>T (p.Thr859Met)
|
rs200744555
|
0.00007
|
|
NM_001242896.3(DEPDC5):c.2997G>T (p.Arg999=)
|
rs372078779
|
0.00007
|
|
NM_001242896.3(DEPDC5):c.3545A>G (p.Glu1182Gly)
|
rs373459336
|
0.00007
|
|
NM_001242896.3(DEPDC5):c.4764C>T (p.Val1588=)
|
rs540471738
|
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.7861G>A (p.Gly2621Arg)
|
rs144453936
|
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.731G>A (p.Arg244Gln)
|
rs774885705
|
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_005097.4(LGI1):c.1669G>A (p.Ala557Thr)
|
rs370955995
|
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.140C>T (p.Ala47Val)
|
rs374472664
|
0.00007
|
|
NM_015973.5(GAL):c.141C>T (p.Ala47=)
|
rs367644530
|
0.00007
|
|
NM_015973.5(GAL):c.368C>T (p.Ser123Phe)
|
rs747411981
|
0.00007
|
|
NM_015973.5(GAL):c.43G>A (p.Ala15Thr)
|
rs753843211
|
0.00007
|
|
NM_018100.4(EFHC1):c.344A>G (p.Tyr115Cys)
|
rs371610025
|
0.00007
|
|
NM_020361.5(CPA6):c.*286A>G
|
rs1370253960
|
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.2482C>T (p.Arg828Cys)
|
rs370800291
|
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.335-16G>A
|
rs151217665
|
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_032737.4(LMNB2):c.1279G>A (p.Ala427Thr)
|
rs57521499
|
0.00007
|
|
NM_032737.4(LMNB2):c.1407G>A (p.Ser469=)
|
rs200879771
|
0.00007
|
|
NM_153026.3(PRICKLE1):c.2194G>A (p.Gly732Arg)
|
rs150287042
|
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_000100.3(CSTB):c.*301G>A
|
rs886057111
|
0.00006
|
|
NM_000100.4(CSTB):c.29A>C (p.Gln10Pro)
|
rs569851503
|
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_000742.4(CHRNA2):c.1432G>A (p.Asp478Asn)
|
rs141072985
|
0.00006
|
|
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.1535C>G (p.Ser512Cys)
|
rs754133410
|
0.00006
|
|
NM_000744.7(CHRNA4):c.1583C>T (p.Pro528Leu)
|
rs201739273
|
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.20G>C (p.Gly7Ala)
|
rs1025632281
|
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_000744.7(CHRNA4):c.553G>A (p.Asp185Asn)
|
rs200979226
|
0.00006
|
|
NM_000744.7(CHRNA4):c.711C>T (p.Phe237=)
|
rs144446511
|
0.00006
|
|
NM_000748.3(CHRNB2):c.1103G>T (p.Arg368Leu)
|
rs202114705
|
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.1298G>A (p.Arg433Gln)
|
rs781225056
|
0.00006
|
|
NM_001077350.3(NPRL3):c.1402G>A (p.Ala468Thr)
|
rs752246132
|
0.00006
|
|
NM_001077350.3(NPRL3):c.1420G>A (p.Gly474Arg)
|
rs374687256
|
0.00006
|
|
NM_001077350.3(NPRL3):c.1567C>T (p.Arg523Cys)
|
rs189283988
|
0.00006
|
|
NM_001077350.3(NPRL3):c.188+14G>A
|
rs368999536
|
0.00006
|
|
NM_001077350.3(NPRL3):c.466G>A (p.Glu156Lys)
|
rs374060440
|
0.00006
|
|
NM_001077350.3(NPRL3):c.630-19C>G
|
rs753781901
|
0.00006
|
|
NM_001077350.3(NPRL3):c.653G>A (p.Arg218Gln)
|
rs201341279
|
0.00006
|
|
NM_001077350.3(NPRL3):c.951G>A (p.Val317=)
|
rs747655659
|
0.00006
|
|
NM_001099403.2(PRDM8):c.1343G>A (p.Arg448Gln)
|
rs983217484
|
0.00006
|
|
NM_001099403.2(PRDM8):c.146C>A (p.Thr49Asn)
|
rs553212056
|
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_001099403.2(PRDM8):c.865A>G (p.Ser289Gly)
|
rs1443007613
|
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.*2053C>T
|
rs775312419
|
0.00006
|
|
NM_001134407.3(GRIN2A):c.*5076G>C
|
rs182876220
|
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.1008-22395A>T
|
rs909654359
|
0.00006
|
|
NM_001134407.3(GRIN2A):c.1141C>T (p.His381Tyr)
|
rs757464009
|
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.2250C>T (p.Ile750=)
|
rs143779792
|
0.00006
|
|
NM_001134407.3(GRIN2A):c.2331G>A (p.Leu777=)
|
rs118035164
|
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.*1202C>A
|
rs200435801
|
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.182T>C (p.Val61Ala)
|
rs200420124
|
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.1408C>T (p.Pro470Ser)
|
rs371312649
|
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.2287C>T (p.Arg763Cys)
|
rs745342391
|
0.00006
|
|
NM_001242896.3(DEPDC5):c.2361C>T (p.Asp787=)
|
rs371165640
|
0.00006
|
|
NM_001242896.3(DEPDC5):c.2836T>C (p.Phe946Leu)
|
rs377335254
|
0.00006
|
|
NM_001242896.3(DEPDC5):c.2910G>A (p.Gly970=)
|
rs377139782
|
0.00006
|
|
NM_001242896.3(DEPDC5):c.2921G>A (p.Arg974His)
|
rs762596342
|
0.00006
|
|
NM_001242896.3(DEPDC5):c.3085A>G (p.Thr1029Ala)
|
rs537257402
|
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.3622G>A (p.Ala1208Thr)
|
rs748662185
|
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.5G>A (p.Arg2Lys)
|
rs756142773
|
0.00006
|
|
NM_001242896.3(DEPDC5):c.695-16G>A
|
rs201635358
|
0.00006
|
|
NM_001242896.3(DEPDC5):c.842A>T (p.Tyr281Phe)
|
rs200797928
|
0.00006
|
|
NM_001242896.3(DEPDC5):c.90C>G (p.Phe30Leu)
|
rs374794334
|
0.00006
|
|
NM_001271.4(CHD2):c.4534C>T (p.Arg1512Trp)
|
rs755898320
|
0.00006
|
|
NM_003042.4(SLC6A1):c.830G>A (p.Arg277His)
|
rs752396911
|
0.00006
|
|
NM_004287.5(GOSR2):c.149G>A (p.Arg50His)
|
rs377765254
|
0.00006
|
|
NM_004287.5(GOSR2):c.393G>T (p.Gln131His)
|
rs182039780
|
0.00006
|
|
NM_005045.4(RELN):c.10355G>A (p.Arg3452Lys)
|
rs149434986
|
0.00006
|
|
NM_005045.4(RELN):c.10357C>T (p.Arg3453Ter)
|
rs139326865
|
0.00006
|
|
NM_005045.4(RELN):c.1566G>C (p.Leu522Phe)
|
rs200373269
|
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.3593G>A (p.Arg1198His)
|
rs114655373
|
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.4937-18del
|
rs757860282
|
0.00006
|
|
NM_005045.4(RELN):c.5025C>T (p.Pro1675=)
|
rs748927848
|
0.00006
|
|
NM_005045.4(RELN):c.5194C>T (p.Leu1732Phe)
|
rs755485060
|
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.5345G>A (p.Arg1782His)
|
rs747527621
|
0.00006
|
|
NM_005045.4(RELN):c.5418C>T (p.Asp1806=)
|
rs746613525
|
0.00006
|
|
NM_005045.4(RELN):c.5480A>G (p.Asn1827Ser)
|
rs374941914
|
0.00006
|
|
NM_005045.4(RELN):c.6031C>T (p.Arg2011Cys)
|
rs374628146
|
0.00006
|
|
NM_005045.4(RELN):c.6170T>G (p.Leu2057Arg)
|
rs138909076
|
0.00006
|
|
NM_005045.4(RELN):c.6874C>T (p.Arg2292Cys)
|
rs762032224
|
0.00006
|
|
NM_005045.4(RELN):c.7036G>A (p.Val2346Met)
|
rs201788015
|
0.00006
|
|
NM_005045.4(RELN):c.718G>A (p.Val240Ile)
|
rs375141725
|
0.00006
|
|
NM_005045.4(RELN):c.753+14A>G
|
rs368776001
|
0.00006
|
|
NM_005045.4(RELN):c.8141A>G (p.His2714Arg)
|
rs746594396
|
0.00006
|
|
NM_005045.4(RELN):c.9446C>T (p.Ser3149Leu)
|
rs773908055
|
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.1316C>A (p.Pro439His)
|
rs761643020
|
0.00006
|
|
NM_005076.5(CNTN2):c.1397C>T (p.Thr466Ile)
|
rs145344980
|
0.00006
|
|
NM_005076.5(CNTN2):c.1641C>T (p.Asp547=)
|
rs150567846
|
0.00006
|
|
NM_005076.5(CNTN2):c.1655A>G (p.Asp552Gly)
|
rs375531151
|
0.00006
|
|
NM_005076.5(CNTN2):c.1739G>A (p.Arg580His)
|
rs200242849
|
0.00006
|
|
NM_005076.5(CNTN2):c.1787C>T (p.Ala596Val)
|
rs578081549
|
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.1986C>A (p.Asn662Lys)
|
rs140020952
|
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.3092T>C (p.Met1031Thr)
|
rs1401995560
|
0.00006
|
|
NM_005076.5(CNTN2):c.388G>A (p.Gly130Ser)
|
rs368353579
|
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_005076.5(CNTN2):c.821G>A (p.Arg274His)
|
rs200893856
|
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_005097.4(LGI1):c.205G>A (p.Val69Ile)
|
rs147469708
|
0.00006
|
|
NM_005506.4(SCARB2):c.1187+12T>C
|
rs532651260
|
0.00006
|
|
NM_005506.4(SCARB2):c.1271G>A (p.Arg424Gln)
|
rs751827409
|
0.00006
|
|
NM_005670.4(EPM2A):c.338A>G (p.Asn113Ser)
|
rs753867771
|
0.00006
|
|
NM_005670.4(EPM2A):c.436T>C (p.Tyr146His)
|
rs1393744393
|
0.00006
|
|
NM_005670.4(EPM2A):c.495G>T (p.Trp165Cys)
|
rs781291421
|
0.00006
|
|
NM_005670.4(EPM2A):c.984G>T (p.Val328=)
|
rs200996083
|
0.00006
|
|
NM_006922.4(SCN3A):c.2443G>A (p.Asp815Asn)
|
rs755440336
|
0.00006
|
|
NM_006922.4(SCN3A):c.5200G>C (p.Gly1734Arg)
|
rs577933870
|
0.00006
|
|
NM_006922.4(SCN3A):c.5881A>T (p.Ser1961Cys)
|
rs184544899
|
0.00006
|
|
NM_015973.5(GAL):c.142G>A (p.Val48Ile)
|
rs541536020
|
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.1223A>T (p.Asp408Val)
|
rs773810917
|
0.00006
|
|
NM_018100.4(EFHC1):c.1279-4G>C
|
rs372831217
|
0.00006
|
|
NM_018100.4(EFHC1):c.1306C>T (p.Arg436Cys)
|
rs377286138
|
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.1812A>C (p.Glu604Asp)
|
rs369503191
|
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_018100.4(EFHC1):c.1A>G (p.Met1Val)
|
rs201520866
|
0.00006
|
|
NM_018100.4(EFHC1):c.350T>C (p.Ile117Thr)
|
rs201616140
|
0.00006
|
|
NM_018100.4(EFHC1):c.457C>T (p.Arg153Trp)
|
rs373625101
|
0.00006
|
|
NM_018100.4(EFHC1):c.742A>G (p.Ile248Val)
|
rs780571007
|
0.00006
|
|
NM_020151.4(STARD7):c.418C>T (p.Arg140Cys)
|
rs181733184
|
0.00006
|
|
NM_020361.5(CPA6):c.1021A>G (p.Ile341Val)
|
rs766177388
|
0.00006
|
|
NM_020361.5(CPA6):c.557A>G (p.Lys186Arg)
|
rs199576384
|
0.00006
|
|
NM_020822.3(KCNT1):c.1173C>T (p.Asn391=)
|
rs374015551
|
0.00006
|
|
NM_020822.3(KCNT1):c.1200+15C>T
|
rs138631641
|
0.00006
|
|
NM_020822.3(KCNT1):c.1201-6C>T
|
rs543464639
|
0.00006
|
|
NM_020822.3(KCNT1):c.1326C>A (p.Leu442=)
|
rs200910140
|
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.1626A>G (p.Gly542=)
|
rs537431085
|
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.2630C>T (p.Ala877Val)
|
rs774033346
|
0.00006
|
|
NM_020822.3(KCNT1):c.2670C>T (p.Ser890=)
|
rs765403435
|
0.00006
|
|
NM_020822.3(KCNT1):c.2674G>A (p.Glu892Lys)
|
rs376757326
|
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.3341G>A (p.Arg1114Gln)
|
rs758311066
|
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.1018C>G (p.Leu340Val)
|
rs774114834
|
0.00006
|
|
NM_021267.5(CERS1):c.419C>T (p.Pro140Leu)
|
rs202201774
|
0.00006
|
|
NM_021267.5(CERS1):c.752+9T>C
|
rs369684023
|
0.00006
|
|
NM_032178.3(SLC7A6OS):c.191A>G (p.Gln64Arg)
|
rs190706099
|
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.1483-12C>T
|
rs761892602
|
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.742C>T (p.Arg248Trp)
|
rs767801199
|
0.00006
|
|
NM_032737.4(LMNB2):c.982-12C>T
|
rs777467524
|
0.00006
|
|
NM_153026.3(PRICKLE1):c.*594_*595del
|
rs769616581
|
0.00006
|
|
NM_153026.3(PRICKLE1):c.-279_-277dup
|
rs886049380
|
0.00006
|
|
NM_153026.3(PRICKLE1):c.1443C>T (p.Gly481=)
|
rs376123082
|
0.00006
|
|
NM_153026.3(PRICKLE1):c.1520C>T (p.Ser507Leu)
|
rs781019264
|
0.00006
|
|
NM_153026.3(PRICKLE1):c.1629C>T (p.Ser543=)
|
rs748556304
|
0.00006
|
|
NM_153026.3(PRICKLE1):c.1772G>C (p.Ser591Thr)
|
rs778075325
|
0.00006
|
|
NM_153026.3(PRICKLE1):c.206T>C (p.Ile69Thr)
|
rs141795695
|
0.00006
|
|
NM_153026.3(PRICKLE1):c.2081A>G (p.Lys694Arg)
|
rs750904030
|
0.00006
|
|
NM_153026.3(PRICKLE1):c.649T>C (p.Cys217Arg)
|
rs772276749
|
0.00006
|
|
NM_153026.3(PRICKLE1):c.703G>A (p.Gly235Ser)
|
rs375197568
|
0.00006
|
|
NM_153026.3(PRICKLE1):c.804C>T (p.Asp268=)
|
rs371149992
|
0.00006
|
|
NM_153026.3(PRICKLE1):c.808C>A (p.Gln270Lys)
|
rs752070986
|
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.216C>T (p.Tyr72=)
|
rs745910052
|
0.00006
|
|
NM_153033.5(KCTD7):c.256T>C (p.Tyr86His)
|
rs149255570
|
0.00006
|
|
NM_153033.5(KCTD7):c.266C>T (p.Thr89Met)
|
rs375586745
|
0.00006
|
|
NM_153033.5(KCTD7):c.493+7G>T
|
rs1482884248
|
0.00006
|
|
NM_198586.3(NHLRC1):c.468del (p.Gly158fs)
|
rs757954108
|
0.00006
|
|
NM_198586.3(NHLRC1):c.740C>T (p.Ala247Val)
|
rs367906378
|
0.00006
|
|
NM_198586.3(NHLRC1):c.805G>A (p.Val269Met)
|
rs140164729
|
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_000100.4(CSTB):c.26C>T (p.Thr9Met)
|
rs778785343
|
0.00005
|
|
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.1464G>A (p.Ser488=)
|
rs796052305
|
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.492C>T (p.Asp164=)
|
rs200259564
|
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.1273C>T (p.Arg425Trp)
|
rs77710036
|
0.00005
|
|
NM_000748.3(CHRNB2):c.1339-16C>T
|
rs117167810
|
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.1085C>T (p.Pro362Leu)
|
rs763923760
|
0.00005
|
|
NM_001077350.3(NPRL3):c.1149C>T (p.Pro383=)
|
rs577949063
|
0.00005
|
|
NM_001077350.3(NPRL3):c.1162-2A>G
|
rs756257487
|
0.00005
|
|
NM_001077350.3(NPRL3):c.118+7G>A
|
rs753617978
|
0.00005
|
|
NM_001077350.3(NPRL3):c.1226A>G (p.Tyr409Cys)
|
rs775053528
|
0.00005
|
|
NM_001077350.3(NPRL3):c.1252G>A (p.Glu418Lys)
|
rs547498080
|
0.00005
|
|
NM_001077350.3(NPRL3):c.1593C>T (p.Tyr531=)
|
rs200669192
|
0.00005
|
|
NM_001077350.3(NPRL3):c.1678G>T (p.Val560Phe)
|
rs752181668
|
0.00005
|
|
NM_001077350.3(NPRL3):c.629+16G>C
|
rs148320642
|
0.00005
|
|
NM_001077350.3(NPRL3):c.924+14G>A
|
rs754657607
|
0.00005
|
|
NM_001099403.2(PRDM8):c.1138G>A (p.Glu380Lys)
|
rs769213647
|
0.00005
|
|
NM_001099403.2(PRDM8):c.1464G>A (p.Gly488=)
|
rs951686621
|
0.00005
|
|
NM_001099403.2(PRDM8):c.1466G>A (p.Gly489Asp)
|
rs1379672825
|
0.00005
|
|
NM_001099403.2(PRDM8):c.14G>A (p.Gly5Asp)
|
rs372824214
|
0.00005
|
|
NM_001099403.2(PRDM8):c.1691G>C (p.Ser564Thr)
|
rs753837771
|
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.1385G>A (p.Arg462Gln)
|
rs200123434
|
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_001112741.2(KCNC1):c.1673C>G (p.Pro558Arg)
|
rs749270474
|
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_001122752.2(SERPINI1):c.76A>G (p.Ile26Val)
|
rs372678518
|
0.00005
|
|
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.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.2966A>G (p.Asn989Ser)
|
rs531782747
|
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_001134407.3(GRIN2A):c.829A>G (p.Ile277Val)
|
rs376979811
|
0.00005
|
|
NM_001161352.2(KCNMA1):c.1917C>T (p.Asn639=)
|
rs757149091
|
0.00005
|
|
NM_001161352.2(KCNMA1):c.2015+5G>C
|
rs746586408
|
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.1082-3T>A
|
rs780547994
|
0.00005
|
|
NM_001242896.3(DEPDC5):c.1153C>T (p.Arg385Trp)
|
rs200020310
|
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.3217A>C (p.Ser1073Arg)
|
rs754608531
|
0.00005
|
|
NM_001242896.3(DEPDC5):c.3891C>T (p.Ala1297=)
|
rs375636352
|
0.00005
|
|
NM_001242896.3(DEPDC5):c.4183G>A (p.Ala1395Thr)
|
rs764462476
|
0.00005
|
|
NM_001242896.3(DEPDC5):c.532A>G (p.Ser178Gly)
|
rs758035240
|
0.00005
|
|
NM_004287.5(GOSR2):c.388C>T (p.Leu130Phe)
|
rs137975476
|
0.00005
|
|
NM_004287.5(GOSR2):c.547G>A (p.Glu183Lys)
|
rs144472114
|
0.00005
|
|
NM_005045.4(RELN):c.10358G>A (p.Arg3453Gln)
|
rs200731411
|
0.00005
|
|
NM_005045.4(RELN):c.1795C>T (p.Arg599Cys)
|
rs369272208
|
0.00005
|
|
NM_005045.4(RELN):c.2112C>T (p.Ser704=)
|
rs760775607
|
0.00005
|
|
NM_005045.4(RELN):c.2464A>G (p.Arg822Gly)
|
rs945117892
|
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.6190C>T (p.His2064Tyr)
|
rs767258528
|
0.00005
|
|
NM_005045.4(RELN):c.6887C>T (p.Pro2296Leu)
|
rs764561610
|
0.00005
|
|
NM_005045.4(RELN):c.698C>T (p.Ala233Val)
|
rs371936391
|
0.00005
|
|
NM_005045.4(RELN):c.699G>A (p.Ala233=)
|
rs780491620
|
0.00005
|
|
NM_005045.4(RELN):c.7423G>A (p.Val2475Ile)
|
rs764015748
|
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.9478C>G (p.Leu3160Val)
|
rs185075003
|
0.00005
|
|
NM_005045.4(RELN):c.9633G>A (p.Lys3211=)
|
rs114211457
|
0.00005
|
|
NM_005076.5(CNTN2):c.1572C>A (p.Asp524Glu)
|
rs148062265
|
0.00005
|
|
NM_005076.5(CNTN2):c.1676A>G (p.His559Arg)
|
rs747131553
|
0.00005
|
|
NM_005076.5(CNTN2):c.1915G>A (p.Ala639Thr)
|
rs562711151
|
0.00005
|
|
NM_005076.5(CNTN2):c.2228G>C (p.Gly743Ala)
|
rs746291684
|
0.00005
|
|
NM_005076.5(CNTN2):c.261T>C (p.Arg87=)
|
rs767771094
|
0.00005
|
|
NM_005076.5(CNTN2):c.2686A>T (p.Thr896Ser)
|
rs201649365
|
0.00005
|
|
NM_005076.5(CNTN2):c.2711A>G (p.Asn904Ser)
|
rs149058423
|
0.00005
|
|
NM_005076.5(CNTN2):c.2741G>A (p.Arg914Gln)
|
rs373583840
|
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.967G>A (p.Val323Met)
|
rs369483636
|
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.310G>A (p.Asp104Asn)
|
rs145675377
|
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.1325T>C (p.Ile442Thr)
|
rs1064794450
|
0.00005
|
|
NM_005506.4(SCARB2):c.588T>C (p.Ser196=)
|
rs761204416
|
0.00005
|
|
NM_006922.4(SCN3A):c.1070G>A (p.Arg357Gln)
|
rs774195502
|
0.00005
|
|
NM_006922.4(SCN3A):c.4186G>A (p.Val1396Met)
|
rs200031995
|
0.00005
|
|
NM_015973.5(GAL):c.200G>C (p.Arg67Pro)
|
rs768058377
|
0.00005
|
|
NM_015973.5(GAL):c.216G>A (p.Met72Ile)
|
rs375393105
|
0.00005
|
|
NM_018100.4(EFHC1):c.1274T>G (p.Val425Gly)
|
rs529767823
|
0.00005
|
|
NM_018100.4(EFHC1):c.1523C>G (p.Thr508Arg)
|
rs200328198
|
0.00005
|
|
NM_018100.4(EFHC1):c.1886T>C (p.Ile629Thr)
|
rs199604518
|
0.00005
|
|
NM_018100.4(EFHC1):c.628G>A (p.Asp210Asn)
|
rs137852777
|
0.00005
|
|
NM_020151.4(STARD7):c.361C>T (p.Pro121Ser)
|
rs200880792
|
0.00005
|
|
NM_020361.5(CPA6):c.1126+13C>T
|
rs768409721
|
0.00005
|
|
NM_020822.3(KCNT1):c.1035+17C>T
|
rs375391930
|
0.00005
|
|
NM_020822.3(KCNT1):c.110+1G>C
|
rs780331569
|
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.1510+4C>T
|
rs554828530
|
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.3298G>A (p.Ala1100Thr)
|
rs769422518
|
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.3502+17C>T
|
rs767500906
|
0.00005
|
|
NM_020822.3(KCNT1):c.3640C>T (p.Arg1214Trp)
|
rs150447764
|
0.00005
|
|
NM_020822.3(KCNT1):c.408C>T (p.Leu136=)
|
rs370046449
|
0.00005
|
|
NM_020822.3(KCNT1):c.676-4A>G
|
rs780921786
|
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.1234G>A (p.Val412Ile)
|
rs577848864
|
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.1243A>G (p.Met415Val)
|
rs776720321
|
0.00005
|
|
NM_153026.3(PRICKLE1):c.132G>A (p.Gln44=)
|
rs377668062
|
0.00005
|
|
NM_153026.3(PRICKLE1):c.1330A>C (p.Ile444Leu)
|
rs146199468
|
0.00005
|
|
NM_153026.3(PRICKLE1):c.1613A>C (p.Asp538Ala)
|
rs764577468
|
0.00005
|
|
NM_153026.3(PRICKLE1):c.2105G>A (p.Arg702Gln)
|
rs369790443
|
0.00005
|
|
NM_153026.3(PRICKLE1):c.446T>C (p.Val149Ala)
|
rs528557291
|
0.00005
|
|
NM_153026.3(PRICKLE1):c.588+18C>T
|
rs777295798
|
0.00005
|
|
NM_153033.5(KCTD7):c.*516T>C
|
rs865998140
|
0.00005
|
|
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala)
|
rs201296399
|
0.00005
|
|
NM_178013.4(PRIMA1):c.360-11C>T
|
rs368346847
|
0.00005
|
|
NM_178013.4(PRIMA1):c.433G>A (p.Gly145Arg)
|
rs779293897
|
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.721C>G (p.Leu241Val)
|
rs772155104
|
0.00005
|
|
NM_198586.3(NHLRC1):c.723C>A (p.Leu241=)
|
rs748203595
|
0.00005
|
|
NM_198904.4(GABRG2):c.549-3T>G
|
rs750459631
|
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.175G>A (p.Val59Ile)
|
rs531685360
|
0.00004
|
|
NM_000100.4(CSTB):c.192C>T (p.Phe64=)
|
rs773820884
|
0.00004
|
|
NM_000100.4(CSTB):c.221C>T (p.Pro74Leu)
|
rs753004113
|
0.00004
|
|
NM_000100.4(CSTB):c.224A>G (p.His75Arg)
|
rs755073483
|
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_000726.5(CACNB4):c.*4081G>A
|
rs148903851
|
0.00004
|
|
NM_000726.5(CACNB4):c.*5433A>G
|
rs563567053
|
0.00004
|
|
NM_000726.5(CACNB4):c.*6183A>G
|
rs185830609
|
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_000742.4(CHRNA2):c.1064G>A (p.Arg355His)
|
rs368791756
|
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.1198T>A (p.Ser400Thr)
|
rs771693410
|
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.905C>T (p.Ser302Leu)
|
rs367914235
|
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.1522G>A (p.Gly508Ser)
|
rs111286066
|
0.00004
|
|
NM_000744.7(CHRNA4):c.1625C>T (p.Pro542Leu)
|
rs121912281
|
0.00004
|
|
NM_000744.7(CHRNA4):c.1637T>G (p.Val546Gly)
|
rs764888239
|
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.383+7C>T
|
rs200690355
|
0.00004
|
|
NM_000744.7(CHRNA4):c.514C>T (p.Gln172Ter)
|
rs112748821
|
0.00004
|
|
NM_000744.7(CHRNA4):c.537C>T (p.Phe179=)
|
rs747499031
|
0.00004
|
|
NM_000744.7(CHRNA4):c.585C>G (p.His195Gln)
|
rs121912248
|
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.828G>A (p.Thr276=)
|
rs2234932
|
0.00004
|
|
NM_000744.7(CHRNA4):c.858C>T (p.Thr286=)
|
rs121912257
|
0.00004
|
|
NM_000744.7(CHRNA4):c.979G>A (p.Val327Met)
|
rs201841018
|
0.00004
|
|
NM_000748.3(CHRNB2):c.1069G>T (p.Ala357Ser)
|
rs1421654764
|
0.00004
|
|
NM_000748.3(CHRNB2):c.1073G>A (p.Arg358His)
|
rs770156397
|
0.00004
|
|
NM_000748.3(CHRNB2):c.1117G>A (p.Ala373Thr)
|
rs778714852
|
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.1315C>T (p.Arg439Trp)
|
rs945492622
|
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.372C>T (p.Asp124=)
|
rs151054217
|
0.00004
|
|
NM_000748.3(CHRNB2):c.447C>T (p.Ala149=)
|
rs755205867
|
0.00004
|
|
NM_000748.3(CHRNB2):c.538C>T (p.Arg180Cys)
|
rs1469333218
|
0.00004
|
|
NM_000748.3(CHRNB2):c.594A>G (p.Thr198=)
|
rs749930516
|
0.00004
|
|
NM_000748.3(CHRNB2):c.695G>A (p.Arg232His)
|
rs79646221
|
0.00004
|
|
NM_000748.3(CHRNB2):c.983C>T (p.Thr328Met)
|
rs145893879
|
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.1302C>T (p.Val434=)
|
rs570086678
|
0.00004
|
|
NM_001077350.3(NPRL3):c.1309C>T (p.Arg437Cys)
|
rs530150587
|
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.286C>T (p.His96Tyr)
|
rs374486402
|
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.515C>T (p.Ala172Val)
|
rs778177582
|
0.00004
|
|
NM_001077350.3(NPRL3):c.547+16C>T
|
rs373390759
|
0.00004
|
|
NM_001077350.3(NPRL3):c.636C>G (p.Cys212Trp)
|
rs769173039
|
0.00004
|
|
NM_001077350.3(NPRL3):c.64C>T (p.Leu22=)
|
rs747813822
|
0.00004
|
|
NM_001077350.3(NPRL3):c.924+7C>G
|
rs778499898
|
0.00004
|
|
NM_001077350.3(NPRL3):c.943C>T (p.His315Tyr)
|
rs772044858
|
0.00004
|
|
NM_001077350.3(NPRL3):c.996C>T (p.Asn332=)
|
rs368729384
|
0.00004
|
|
NM_001099403.2(PRDM8):c.10A>G (p.Thr4Ala)
|
rs190431626
|
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.1450G>A (p.Gly484Ser)
|
rs1014065137
|
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.1586C>T (p.Ala529Val)
|
rs760114885
|
0.00004
|
|
NM_001099403.2(PRDM8):c.1618G>T (p.Ala540Ser)
|
rs780056353
|
0.00004
|
|
NM_001099403.2(PRDM8):c.1666A>C (p.Asn556His)
|
rs768703640
|
0.00004
|
|
NM_001099403.2(PRDM8):c.2020T>C (p.Ser674Pro)
|
rs750098513
|
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.378A>T (p.Leu126Phe)
|
rs747752546
|
0.00004
|
|
NM_001099403.2(PRDM8):c.409T>C (p.Leu137=)
|
rs376010390
|
0.00004
|
|
NM_001099403.2(PRDM8):c.622G>A (p.Gly208Ser)
|
rs761182081
|
0.00004
|
|
NM_001099403.2(PRDM8):c.647A>T (p.Gln216Leu)
|
rs766078819
|
0.00004
|
|
NM_001099403.2(PRDM8):c.697C>G (p.Leu233Val)
|
rs771970888
|
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.1585G>A (p.Asp529Asn)
|
rs927483438
|
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_001122752.2(SERPINI1):c.1222G>A (p.Glu408Lys)
|
rs756112704
|
0.00004
|
|
NM_001122752.2(SERPINI1):c.332C>T (p.Ser111Phe)
|
rs769602150
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.2224C>T (p.Arg742Cys)
|
rs780658554
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp)
|
rs569997507
|
0.00004
|
|
NM_001134407.3(GRIN2A):c.*5062A>G
|
rs762073558
|
0.00004
|
|
NM_001134407.3(GRIN2A):c.*9278C>T
|
rs139007678
|
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.2532G>A (p.Lys844=)
|
rs754414929
|
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.3427G>A (p.Glu1143Lys)
|
rs61758996
|
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.*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.122C>T (p.Ser41Phe)
|
rs766759815
|
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+18C>T
|
rs189310292
|
0.00004
|
|
NM_001161352.2(KCNMA1):c.1593+19G>A
|
rs770715910
|
0.00004
|
|
NM_001161352.2(KCNMA1):c.1594-20dup
|
rs535571320
|
0.00004
|
|
NM_001161352.2(KCNMA1):c.173C>T (p.Ser58Leu)
|
rs776719617
|
0.00004
|
|
NM_001161352.2(KCNMA1):c.2015+18A>G
|
rs200136190
|
0.00004
|
|
NM_001161352.2(KCNMA1):c.2122C>T (p.Arg708Trp)
|
rs200299051
|
0.00004
|
|
NM_001161352.2(KCNMA1):c.2276A>C (p.Glu759Ala)
|
rs767957728
|
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.2966G>A (p.Arg989His)
|
rs369646039
|
0.00004
|
|
NM_001161352.2(KCNMA1):c.3017-5T>C
|
rs202032522
|
0.00004
|
|
NM_001161352.2(KCNMA1):c.3267G>A (p.Pro1089=)
|
rs189703190
|
0.00004
|
|
NM_001161352.2(KCNMA1):c.3471C>T (p.Ile1157=)
|
rs200321180
|
0.00004
|
|
NM_001161352.2(KCNMA1):c.3499G>A (p.Val1167Met)
|
rs376264061
|
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.1154G>A (p.Arg385Gln)
|
rs368032858
|
0.00004
|
|
NM_001242896.3(DEPDC5):c.1226C>G (p.Thr409Arg)
|
rs773704927
|
0.00004
|
|
NM_001242896.3(DEPDC5):c.1278A>G (p.Ala426=)
|
rs376799291
|
0.00004
|
|
NM_001242896.3(DEPDC5):c.1354G>A (p.Ala452Thr)
|
rs768264302
|
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.1909C>T (p.Arg637Ter)
|
rs780960812
|
0.00004
|
|
NM_001242896.3(DEPDC5):c.2026C>G (p.Pro676Ala)
|
rs199603004
|
0.00004
|
|
NM_001242896.3(DEPDC5):c.2045T>A (p.Phe682Tyr)
|
rs373078069
|
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.2377A>G (p.Met793Val)
|
rs370318709
|
0.00004
|
|
NM_001242896.3(DEPDC5):c.2480C>T (p.Pro827Leu)
|
rs374719445
|
0.00004
|
|
NM_001242896.3(DEPDC5):c.2486C>T (p.Pro829Leu)
|
rs370487077
|
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.2996G>A (p.Arg999Gln)
|
rs201245740
|
0.00004
|
|
NM_001242896.3(DEPDC5):c.3206A>C (p.Gln1069Pro)
|
rs761678944
|
0.00004
|
|
NM_001242896.3(DEPDC5):c.3267C>T (p.Asp1089=)
|
rs374223318
|
0.00004
|
|
NM_001242896.3(DEPDC5):c.3302G>A (p.Arg1101His)
|
rs971993042
|
0.00004
|
|
NM_001242896.3(DEPDC5):c.338A>T (p.Asp113Val)
|
rs529069517
|
0.00004
|
|
NM_001242896.3(DEPDC5):c.3547G>A (p.Ala1183Thr)
|
rs376438394
|
0.00004
|
|
NM_001242896.3(DEPDC5):c.3563C>T (p.Ser1188Leu)
|
rs376487148
|
0.00004
|
|
NM_001242896.3(DEPDC5):c.3624G>A (p.Ala1208=)
|
rs367828073
|
0.00004
|
|
NM_001242896.3(DEPDC5):c.3659G>A (p.Gly1220Glu)
|
rs374871448
|
0.00004
|
|
NM_001242896.3(DEPDC5):c.3678G>A (p.Met1226Ile)
|
rs756692170
|
0.00004
|
|
NM_001242896.3(DEPDC5):c.3785C>T (p.Thr1262Met)
|
rs369298689
|
0.00004
|
|
NM_001242896.3(DEPDC5):c.380A>G (p.Tyr127Cys)
|
rs370881336
|
0.00004
|
|
NM_001242896.3(DEPDC5):c.3946C>G (p.Leu1316Val)
|
rs755051459
|
0.00004
|
|
NM_001242896.3(DEPDC5):c.4175C>T (p.Ala1392Val)
|
rs1420107846
|
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.562+13T>C
|
rs773199371
|
0.00004
|
|
NM_001242896.3(DEPDC5):c.562+4C>T
|
rs553625749
|
0.00004
|
|
NM_001242896.3(DEPDC5):c.744G>A (p.Gly248=)
|
rs377094222
|
0.00004
|
|
NM_001365536.1(SCN9A):c.1979C>T (p.Thr660Met)
|
rs200965749
|
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.272G>A (p.Arg91His)
|
rs145168042
|
0.00004
|
|
NM_004287.5(GOSR2):c.404A>G (p.Asn135Ser)
|
rs765513191
|
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_004287.5(GOSR2):c.637T>C (p.Ter213Arg)
|
rs1229223114
|
0.00004
|
|
NM_004287.5(GOSR2):c.80A>G (p.Lys27Arg)
|
rs373000501
|
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.10097A>G (p.Asn3366Ser)
|
rs148140675
|
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.1320A>G (p.Thr440=)
|
rs376968265
|
0.00004
|
|
NM_005045.4(RELN):c.1381T>C (p.Leu461=)
|
rs142746698
|
0.00004
|
|
NM_005045.4(RELN):c.1554+5A>G
|
rs778678895
|
0.00004
|
|
NM_005045.4(RELN):c.1649G>T (p.Arg550Met)
|
rs773589573
|
0.00004
|
|
NM_005045.4(RELN):c.1690C>A (p.Leu564Ile)
|
rs748901010
|
0.00004
|
|
NM_005045.4(RELN):c.1817C>T (p.Thr606Ile)
|
rs540111252
|
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.2084T>A (p.Phe695Tyr)
|
rs750188972
|
0.00004
|
|
NM_005045.4(RELN):c.2095G>A (p.Ala699Thr)
|
rs543233426
|
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.2453A>G (p.Tyr818Cys)
|
rs771201055
|
0.00004
|
|
NM_005045.4(RELN):c.245C>T (p.Thr82Ile)
|
rs368049573
|
0.00004
|
|
NM_005045.4(RELN):c.2466A>C (p.Arg822Ser)
|
rs779002595
|
0.00004
|
|
NM_005045.4(RELN):c.2779A>G (p.Met927Val)
|
rs546154419
|
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.4133C>G (p.Ser1378Cys)
|
rs751271323
|
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.6401A>G (p.Glu2134Gly)
|
rs1023433954
|
0.00004
|
|
NM_005045.4(RELN):c.65G>T (p.Arg22Met)
|
rs139532757
|
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.7757C>T (p.Thr2586Ile)
|
rs202172902
|
0.00004
|
|
NM_005045.4(RELN):c.7939G>A (p.Gly2647Ser)
|
rs781392761
|
0.00004
|
|
NM_005045.4(RELN):c.8051G>A (p.Arg2684His)
|
rs201157987
|
0.00004
|
|
NM_005045.4(RELN):c.8068G>A (p.Gly2690Ser)
|
rs201264902
|
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.9605+6T>A
|
rs376881823
|
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.1147T>C (p.Ser383Pro)
|
rs377487667
|
0.00004
|
|
NM_005076.5(CNTN2):c.1226A>T (p.Glu409Val)
|
rs749341276
|
0.00004
|
|
NM_005076.5(CNTN2):c.1241-3T>C
|
rs200577280
|
0.00004
|
|
NM_005076.5(CNTN2):c.1315C>G (p.Pro439Ala)
|
rs369127731
|
0.00004
|
|
NM_005076.5(CNTN2):c.1324C>A (p.Pro442Thr)
|
rs371470696
|
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.1425A>G (p.Ile475Met)
|
rs149065585
|
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.185G>A (p.Arg62His)
|
rs772280387
|
0.00004
|
|
NM_005076.5(CNTN2):c.191G>A (p.Arg64Gln)
|
rs199539011
|
0.00004
|
|
NM_005076.5(CNTN2):c.2001C>T (p.Ala667=)
|
rs1307242710
|
0.00004
|
|
NM_005076.5(CNTN2):c.215G>A (p.Arg72Gln)
|
rs145070278
|
0.00004
|
|
NM_005076.5(CNTN2):c.2196+5G>A
|
rs747164379
|
0.00004
|
|
NM_005076.5(CNTN2):c.2614A>C (p.Ser872Arg)
|
rs1040215071
|
0.00004
|
|
NM_005076.5(CNTN2):c.271G>A (p.Val91Met)
|
rs756428097
|
0.00004
|
|
NM_005076.5(CNTN2):c.2893G>A (p.Gly965Ser)
|
rs558282228
|
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.689C>T (p.Ala230Val)
|
rs138454536
|
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.1124C>T (p.Ala375Val)
|
rs778913748
|
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.344C>T (p.Pro115Leu)
|
rs763321607
|
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.911A>G (p.Asn304Ser)
|
rs150870503
|
0.00004
|
|
NM_005506.4(SCARB2):c.914C>T (p.Thr305Met)
|
rs148588727
|
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.100C>G (p.Pro34Ala)
|
rs796052438
|
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.632C>T (p.Pro211Leu)
|
rs148475381
|
0.00004
|
|
NM_005670.4(EPM2A):c.845A>G (p.Gln282Arg)
|
rs763098296
|
0.00004
|
|
NM_005670.4(EPM2A):c.904G>A (p.Ala302Thr)
|
rs755742563
|
0.00004
|
|
NM_005670.4(EPM2A):c.918C>T (p.Asp306=)
|
rs375436219
|
0.00004
|
|
NM_005670.4(EPM2A):c.986G>A (p.Cys329Tyr)
|
rs780826386
|
0.00004
|
|
NM_006545.5(NPRL2):c.1004G>A (p.Arg335Gln)
|
rs758322982
|
0.00004
|
|
NM_006922.4(SCN3A):c.2021G>A (p.Gly674Asp)
|
rs751294193
|
0.00004
|
|
NM_006922.4(SCN3A):c.4114A>G (p.Met1372Val)
|
rs758906955
|
0.00004
|
|
NM_006922.4(SCN3A):c.4236A>G (p.Gln1412=)
|
rs551837418
|
0.00004
|
|
NM_015973.5(GAL):c.223+3G>A
|
rs202155593
|
0.00004
|
|
NM_015973.5(GAL):c.77C>T (p.Ser26Leu)
|
rs201644659
|
0.00004
|
|
NM_018100.4(EFHC1):c.1017G>A (p.Gly339=)
|
rs144447906
|
0.00004
|
|
NM_018100.4(EFHC1):c.1261C>T (p.Arg421Cys)
|
rs144389178
|
0.00004
|
|
NM_018100.4(EFHC1):c.1265A>T (p.Tyr422Phe)
|
rs750259384
|
0.00004
|
|
NM_018100.4(EFHC1):c.1333G>A (p.Ala445Thr)
|
rs770847993
|
0.00004
|
|
NM_018100.4(EFHC1):c.1459C>T (p.Pro487Ser)
|
rs775601315
|
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.263C>T (p.Ala88Val)
|
rs145102896
|
0.00004
|
|
NM_018100.4(EFHC1):c.451C>T (p.Arg151Cys)
|
rs200375854
|
0.00004
|
|
NM_018100.4(EFHC1):c.526A>G (p.Ile176Val)
|
rs369777400
|
0.00004
|
|
NM_018100.4(EFHC1):c.573+5A>G
|
rs560584332
|
0.00004
|
|
NM_018100.4(EFHC1):c.646C>T (p.Arg216Ter)
|
rs377165334
|
0.00004
|
|
NM_018100.4(EFHC1):c.647G>A (p.Arg216Gln)
|
rs77682973
|
0.00004
|
|
NM_018941.4(CLN8):c.556G>A (p.Glu186Lys)
|
rs756636772
|
0.00004
|
|
NM_020361.5(CPA6):c.442T>C (p.Trp148Arg)
|
rs771067681
|
0.00004
|
|
NM_020361.5(CPA6):c.587A>G (p.His196Arg)
|
rs376266840
|
0.00004
|
|
NM_020361.5(CPA6):c.791G>A (p.Arg264His)
|
rs752555064
|
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.1614C>T (p.Arg538=)
|
rs368876173
|
0.00004
|
|
NM_020822.3(KCNT1):c.1620-14G>A
|
rs754311028
|
0.00004
|
|
NM_020822.3(KCNT1):c.1776C>T (p.Gly592=)
|
rs769406687
|
0.00004
|
|
NM_020822.3(KCNT1):c.1783C>T (p.Leu595Phe)
|
rs950983477
|
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.2270C>T (p.Ser757Leu)
|
rs775923151
|
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.2841+10C>T
|
rs765179799
|
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.3006G>A (p.Pro1002=)
|
rs377162900
|
0.00004
|
|
NM_020822.3(KCNT1):c.3059G>A (p.Arg1020His)
|
rs373365707
|
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.3286G>A (p.Gly1096Ser)
|
rs748115007
|
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.3505G>A (p.Glu1169Lys)
|
rs768746178
|
0.00004
|
|
NM_020822.3(KCNT1):c.3563C>T (p.Thr1188Met)
|
rs370090905
|
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.3679C>T (p.Pro1227Ser)
|
rs779262121
|
0.00004
|
|
NM_020822.3(KCNT1):c.53G>T (p.Arg18Leu)
|
rs753714293
|
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.262C>T (p.Arg88Trp)
|
rs202181919
|
0.00004
|
|
NM_021267.5(CERS1):c.293A>G (p.Lys98Arg)
|
rs770877225
|
0.00004
|
|
NM_021267.5(CERS1):c.349G>T (p.Ala117Ser)
|
rs199956210
|
0.00004
|
|
NM_021267.5(CERS1):c.369C>T (p.Thr123=)
|
rs560072286
|
0.00004
|
|
NM_021267.5(CERS1):c.437G>A (p.Arg146Gln)
|
rs201005099
|
0.00004
|
|
NM_021267.5(CERS1):c.505A>G (p.Met169Val)
|
rs1230248222
|
0.00004
|
|
NM_021267.5(CERS1):c.591-6C>T
|
rs778912491
|
0.00004
|
|
NM_021267.5(CERS1):c.682C>T (p.Arg228Cys)
|
rs746909154
|
0.00004
|
|
NM_021267.5(CERS1):c.797C>T (p.Ala266Val)
|
rs1245703626
|
0.00004
|
|
NM_021267.5(CERS1):c.817C>T (p.Arg273Cys)
|
rs772007237
|
0.00004
|
|
NM_021267.5(CERS1):c.821C>T (p.Thr274Met)
|
rs769809173
|
0.00004
|
|
NM_021267.5(CERS1):c.989G>T (p.Ser330Ile)
|
rs376643753
|
0.00004
|
|
NM_032737.4(LMNB2):c.1030G>A (p.Gly344Arg)
|
rs567492725
|
0.00004
|
|
NM_032737.4(LMNB2):c.1156A>G (p.Met386Val)
|
rs746460447
|
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.1342G>T (p.Gly448Cys)
|
rs376707935
|
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.1687G>A (p.Val563Ile)
|
rs201618968
|
0.00004
|
|
NM_032737.4(LMNB2):c.1700C>T (p.Ala567Val)
|
rs774978600
|
0.00004
|
|
NM_032737.4(LMNB2):c.1750C>T (p.Arg584Cys)
|
rs201873197
|
0.00004
|
|
NM_032737.4(LMNB2):c.1789G>A (p.Glu597Lys)
|
rs777988017
|
0.00004
|
|
NM_032737.4(LMNB2):c.1821+4G>A
|
rs779811801
|
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.341G>A (p.Arg114His)
|
rs201499035
|
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.750G>C (p.Gln250His)
|
rs758373595
|
0.00004
|
|
NM_032737.4(LMNB2):c.84C>T (p.Arg28=)
|
rs760981938
|
0.00004
|
|
NM_032737.4(LMNB2):c.85G>C (p.Ala29Pro)
|
rs775899258
|
0.00004
|
|
NM_032737.4(LMNB2):c.967G>A (p.Gly323Ser)
|
rs771401646
|
0.00004
|
|
NM_153026.3(PRICKLE1):c.1004G>A (p.Arg335Gln)
|
rs757911190
|
0.00004
|
|
NM_153026.3(PRICKLE1):c.1059G>A (p.Ser353=)
|
rs769884613
|
0.00004
|
|
NM_153026.3(PRICKLE1):c.1247C>T (p.Thr416Met)
|
rs151332996
|
0.00004
|
|
NM_153026.3(PRICKLE1):c.1541C>T (p.Thr514Ile)
|
rs374333566
|
0.00004
|
|
NM_153026.3(PRICKLE1):c.1646C>T (p.Ser549Leu)
|
rs370892022
|
0.00004
|
|
NM_153026.3(PRICKLE1):c.1942C>G (p.Arg648Gly)
|
rs370129051
|
0.00004
|
|
NM_153026.3(PRICKLE1):c.198G>A (p.Lys66=)
|
rs1256250717
|
0.00004
|
|
NM_153026.3(PRICKLE1):c.2044C>T (p.Arg682Cys)
|
rs768954477
|
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.431G>A (p.Arg144His)
|
rs281865563
|
0.00004
|
|
NM_153026.3(PRICKLE1):c.435G>A (p.Ala145=)
|
rs146650383
|
0.00004
|
|
NM_153026.3(PRICKLE1):c.625C>T (p.Arg209Cys)
|
rs777944504
|
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_153033.5(KCTD7):c.217G>A (p.Glu73Lys)
|
rs772773351
|
0.00004
|
|
NM_153033.5(KCTD7):c.315-10T>C
|
rs370881492
|
0.00004
|
|
NM_153033.5(KCTD7):c.506G>A (p.Arg169Gln)
|
rs745917176
|
0.00004
|
|
NM_153033.5(KCTD7):c.523C>T (p.Arg175Trp)
|
rs568539835
|
0.00004
|
|
NM_178013.4(PRIMA1):c.163C>T (p.Arg55Trp)
|
rs146599561
|
0.00004
|
|
NM_178013.4(PRIMA1):c.442G>A (p.Val148Met)
|
rs140016687
|
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_198586.3(NHLRC1):c.1064C>T (p.Pro355Leu)
|
rs144863228
|
0.00004
|
|
NM_198586.3(NHLRC1):c.1090T>A (p.Ser364Thr)
|
rs370044232
|
0.00004
|
|
NM_198586.3(NHLRC1):c.424G>C (p.Val142Leu)
|
rs376655413
|
0.00004
|
|
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs)
|
rs587776542
|
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_000100.4(CSTB):c.*209A>T
|
rs1466237377
|
0.00003
|
|
NM_000100.4(CSTB):c.167A>G (p.Lys56Arg)
|
rs935774172
|
0.00003
|
|
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_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_000742.4(CHRNA2):c.1002C>T (p.Phe334=)
|
rs780941610
|
0.00003
|
|
NM_000742.4(CHRNA2):c.1144C>T (p.Arg382Trp)
|
rs188098799
|
0.00003
|
|
NM_000742.4(CHRNA2):c.121C>T (p.Leu41Phe)
|
rs796052307
|
0.00003
|
|
NM_000742.4(CHRNA2):c.1275T>A (p.Cys425Ter)
|
rs530383631
|
0.00003
|
|
NM_000742.4(CHRNA2):c.1352C>T (p.Ala451Val)
|
rs753892989
|
0.00003
|
|
NM_000742.4(CHRNA2):c.1418T>G (p.Val473Gly)
|
rs150254933
|
0.00003
|
|
NM_000742.4(CHRNA2):c.1465-2A>G
|
rs1279319311
|
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.161C>T (p.Ser54Leu)
|
rs761493925
|
0.00003
|
|
NM_000742.4(CHRNA2):c.227C>T (p.Pro76Leu)
|
rs199810678
|
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.482C>T (p.Thr161Ile)
|
rs376045534
|
0.00003
|
|
NM_000742.4(CHRNA2):c.525C>T (p.Pro175=)
|
rs1026442070
|
0.00003
|
|
NM_000742.4(CHRNA2):c.697A>C (p.Ile233Leu)
|
rs780491416
|
0.00003
|
|
NM_000742.4(CHRNA2):c.883G>A (p.Glu295Lys)
|
rs139727115
|
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.109G>A (p.Glu37Lys)
|
rs778087682
|
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.1327C>G (p.His443Asp)
|
rs796052319
|
0.00003
|
|
NM_000744.7(CHRNA4):c.1388C>G (p.Ala463Gly)
|
rs1381116077
|
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.193C>T (p.Arg65Cys)
|
rs748440038
|
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.807C>T (p.Ser269=)
|
rs201335931
|
0.00003
|
|
NM_000744.7(CHRNA4):c.817G>A (p.Glu273Lys)
|
rs758885593
|
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.1061A>C (p.His354Pro)
|
rs201793956
|
0.00003
|
|
NM_000748.3(CHRNB2):c.1226C>T (p.Pro409Leu)
|
rs1303546196
|
0.00003
|
|
NM_000748.3(CHRNB2):c.1338+10G>A
|
rs903039235
|
0.00003
|
|
NM_000748.3(CHRNB2):c.139C>T (p.Arg47Cys)
|
rs746480833
|
0.00003
|
|
NM_000748.3(CHRNB2):c.30G>A (p.Leu10=)
|
rs1403853764
|
0.00003
|
|
NM_000748.3(CHRNB2):c.316C>T (p.Arg106Trp)
|
rs372273025
|
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.460G>A (p.Ala154Thr)
|
rs769929506
|
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.1145C>T (p.Ala382Val)
|
rs375562061
|
0.00003
|
|
NM_001077350.3(NPRL3):c.1162-4G>A
|
rs539175375
|
0.00003
|
|
NM_001077350.3(NPRL3):c.1202G>A (p.Arg401Gln)
|
rs868451771
|
0.00003
|
|
NM_001077350.3(NPRL3):c.125C>T (p.Pro42Leu)
|
rs762676113
|
0.00003
|
|
NM_001077350.3(NPRL3):c.1264C>T (p.Arg422Cys)
|
rs753763592
|
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.1562G>A (p.Arg521His)
|
rs758488510
|
0.00003
|
|
NM_001077350.3(NPRL3):c.1643G>A (p.Arg548His)
|
rs367598130
|
0.00003
|
|
NM_001077350.3(NPRL3):c.1668C>T (p.His556=)
|
rs370315887
|
0.00003
|
|
NM_001077350.3(NPRL3):c.1707_1708del (p.Ter570SerextTer?)
|
rs756232589
|
0.00003
|
|
NM_001077350.3(NPRL3):c.181G>A (p.Asp61Asn)
|
rs748391280
|
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.563A>G (p.Gln188Arg)
|
rs191687929
|
0.00003
|
|
NM_001077350.3(NPRL3):c.639G>A (p.Thr213=)
|
rs770198792
|
0.00003
|
|
NM_001077350.3(NPRL3):c.641C>T (p.Ser214Leu)
|
rs556232826
|
0.00003
|
|
NM_001077350.3(NPRL3):c.696C>T (p.Pro232=)
|
rs368272925
|
0.00003
|
|
NM_001077350.3(NPRL3):c.767+6T>C
|
rs745822946
|
0.00003
|
|
NM_001077350.3(NPRL3):c.919C>T (p.Leu307=)
|
rs549291288
|
0.00003
|
|
NM_001099403.2(PRDM8):c.1038G>A (p.Glu346=)
|
rs752840771
|
0.00003
|
|
NM_001099403.2(PRDM8):c.1374C>A (p.Ser458Arg)
|
rs1271340866
|
0.00003
|
|
NM_001099403.2(PRDM8):c.1409G>A (p.Gly470Asp)
|
rs1388275056
|
0.00003
|
|
NM_001099403.2(PRDM8):c.1461C>G (p.Gly487=)
|
rs766926830
|
0.00003
|
|
NM_001099403.2(PRDM8):c.1673G>T (p.Gly558Val)
|
rs1454069268
|
0.00003
|
|
NM_001099403.2(PRDM8):c.1688C>G (p.Pro563Arg)
|
rs760525459
|
0.00003
|
|
NM_001099403.2(PRDM8):c.1721C>G (p.Pro574Arg)
|
rs746174564
|
0.00003
|
|
NM_001099403.2(PRDM8):c.1813C>G (p.Leu605Val)
|
rs749676209
|
0.00003
|
|
NM_001099403.2(PRDM8):c.2000A>G (p.Lys667Arg)
|
rs1223656077
|
0.00003
|
|
NM_001099403.2(PRDM8):c.202G>A (p.Val68Ile)
|
rs1030327610
|
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.757A>G (p.Ser253Gly)
|
rs749501319
|
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.1450C>G (p.Gln484Glu)
|
rs376505218
|
0.00003
|
|
NM_001112741.2(KCNC1):c.1505-17T>C
|
rs780502809
|
0.00003
|
|
NM_001112741.2(KCNC1):c.1574C>T (p.Ala525Val)
|
rs1169785679
|
0.00003
|
|
NM_001112741.2(KCNC1):c.1605G>A (p.Thr535=)
|
rs760322146
|
0.00003
|
|
NM_001112741.2(KCNC1):c.1610C>T (p.Ser537Leu)
|
rs374684541
|
0.00003
|
|
NM_001112741.2(KCNC1):c.1619G>A (p.Arg540His)
|
rs375362627
|
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.1173G>A (p.Met391Ile)
|
rs1370761997
|
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_001122752.2(SERPINI1):c.439G>A (p.Val147Met)
|
rs772999261
|
0.00003
|
|
NM_001122752.2(SERPINI1):c.61T>C (p.Phe21Leu)
|
rs545345009
|
0.00003
|
|
NM_001134407.3(GRIN2A):c.*1510C>T
|
rs140491007
|
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.*4251C>T
|
rs537753852
|
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_001134407.3(GRIN2A):c.1007C>T (p.Pro336Leu)
|
rs757262372
|
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.1278C>G (p.Thr426=)
|
rs776324005
|
0.00003
|
|
NM_001134407.3(GRIN2A):c.1476G>A (p.Val492=)
|
rs1347544821
|
0.00003
|
|
NM_001134407.3(GRIN2A):c.1510C>T (p.Arg504Trp)
|
rs1360906241
|
0.00003
|
|
NM_001134407.3(GRIN2A):c.1780C>T (p.Pro594Ser)
|
rs367543140
|
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.2478C>T (p.Ala826=)
|
rs373628160
|
0.00003
|
|
NM_001134407.3(GRIN2A):c.264C>T (p.Asp88=)
|
rs367543127
|
0.00003
|
|
NM_001134407.3(GRIN2A):c.295G>A (p.Val99Met)
|
rs773569899
|
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.72C>G (p.Ser24Arg)
|
rs781722466
|
0.00003
|
|
NM_001134407.3(GRIN2A):c.837C>G (p.Val279=)
|
rs55885632
|
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.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.1614G>A (p.Pro538=)
|
rs368568833
|
0.00003
|
|
NM_001161352.2(KCNMA1):c.1622A>G (p.Asn541Ser)
|
rs1447211434
|
0.00003
|
|
NM_001161352.2(KCNMA1):c.1680C>A (p.Ala560=)
|
rs2229008
|
0.00003
|
|
NM_001161352.2(KCNMA1):c.1788A>G (p.Gly596=)
|
rs527331588
|
0.00003
|
|
NM_001161352.2(KCNMA1):c.1831G>A (p.Val611Met)
|
rs200668674
|
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.2367C>A (p.Asp789Glu)
|
rs587780363
|
0.00003
|
|
NM_001161352.2(KCNMA1):c.2405T>C (p.Met802Thr)
|
rs75573826
|
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.2714C>T (p.Thr905Met)
|
rs201192736
|
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.3147G>A (p.Ala1049=)
|
rs201397661
|
0.00003
|
|
NM_001161352.2(KCNMA1):c.31A>G (p.Ser11Gly)
|
rs886047270
|
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.3673C>T (p.Arg1225Trp)
|
rs148648986
|
0.00003
|
|
NM_001161352.2(KCNMA1):c.469G>A (p.Gly157Ser)
|
rs767576877
|
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_001161352.2(KCNMA1):c.85A>G (p.Ile29Val)
|
rs369845234
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.1067G>A (p.Arg356Gln)
|
rs764876578
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.1082-10C>T
|
rs750775944
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.114T>G (p.Ile38Met)
|
rs566463688
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.1166G>A (p.Arg389His)
|
rs768332862
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.1329C>T (p.Leu443=)
|
rs758352057
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.1334G>A (p.Ser445Asn)
|
rs201797550
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.135C>T (p.Asn45=)
|
rs368243595
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.1456G>A (p.Glu486Lys)
|
rs1389850959
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.165C>G (p.Val55=)
|
rs762835700
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.1760G>A (p.Arg587Gln)
|
rs754007438
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.1860T>C (p.Thr620=)
|
rs760911724
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.1945A>G (p.Arg649Gly)
|
rs775910110
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.2004A>G (p.Gly668=)
|
rs374037144
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.2010C>A (p.His670Gln)
|
rs752274547
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.204T>C (p.Ser68=)
|
rs774206363
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.2288G>A (p.Arg763His)
|
rs542384516
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.2465C>G (p.Pro822Arg)
|
rs746372266
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.2553G>C (p.Gln851His)
|
rs368375649
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.2619G>A (p.Thr873=)
|
rs371442017
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.2704G>A (p.Val902Ile)
|
rs374944205
|
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.2875A>G (p.Ile959Val)
|
rs757332983
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.2884G>T (p.Gly962Trp)
|
rs756338392
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.2920C>T (p.Arg974Cys)
|
rs768342837
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.3014T>A (p.Met1005Lys)
|
rs778753730
|
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.3194A>G (p.Lys1065Arg)
|
rs757609394
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.3225C>T (p.Ser1075=)
|
rs757534228
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.3316G>A (p.Ala1106Thr)
|
rs1247651367
|
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.3461C>T (p.Ser1154Phe)
|
rs578244490
|
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.3746G>A (p.Arg1249Gln)
|
rs747454808
|
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.3871C>T (p.Arg1291Cys)
|
rs202227830
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.3948G>C (p.Leu1316=)
|
rs371864100
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.4033+5A>G
|
rs886039270
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.4125T>C (p.His1375=)
|
rs200220521
|
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.4580G>A (p.Arg1527Gln)
|
rs200552561
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.4756C>T (p.Arg1586Trp)
|
rs768925194
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.500C>T (p.Thr167Met)
|
rs575683658
|
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_001242896.3(DEPDC5):c.944A>G (p.Asn315Ser)
|
rs555944888
|
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.105C>T (p.Asn35=)
|
rs780832143
|
0.00003
|
|
NM_004287.5(GOSR2):c.139C>T (p.Arg47Cys)
|
rs747328256
|
0.00003
|
|
NM_004287.5(GOSR2):c.269G>A (p.Arg90Gln)
|
rs760503363
|
0.00003
|
|
NM_004287.5(GOSR2):c.29+13C>T
|
rs747791818
|
0.00003
|
|
NM_004287.5(GOSR2):c.340T>C (p.Ser114Pro)
|
rs751635119
|
0.00003
|
|
NM_004287.5(GOSR2):c.447T>C (p.Asp149=)
|
rs750298260
|
0.00003
|
|
NM_004287.5(GOSR2):c.510C>G (p.Asn170Lys)
|
rs34572603
|
0.00003
|
|
NM_004287.5(GOSR2):c.538C>T (p.Arg180Trp)
|
rs1305687118
|
0.00003
|
|
NM_004287.5(GOSR2):c.57G>A (p.Met19Ile)
|
rs369247929
|
0.00003
|
|
NM_004287.5(GOSR2):c.619G>A (p.Val207Met)
|
rs780839289
|
0.00003
|
|
NM_004287.5(GOSR2):c.71C>T (p.Thr24Met)
|
rs528931142
|
0.00003
|
|
NM_004287.5(GOSR2):c.8C>A (p.Pro3His)
|
rs1131691533
|
0.00003
|
|
NM_005045.4(RELN):c.10373G>A (p.Arg3458Gln)
|
rs766401565
|
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.2176T>A (p.Phe726Ile)
|
rs200007424
|
0.00003
|
|
NM_005045.4(RELN):c.2252A>C (p.Lys751Thr)
|
rs116504075
|
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.3197C>T (p.Pro1066Leu)
|
rs116225248
|
0.00003
|
|
NM_005045.4(RELN):c.3207T>C (p.Ile1069=)
|
rs774113517
|
0.00003
|
|
NM_005045.4(RELN):c.3217T>G (p.Phe1073Val)
|
rs1402561512
|
0.00003
|
|
NM_005045.4(RELN):c.334T>C (p.Phe112Leu)
|
rs201754586
|
0.00003
|
|
NM_005045.4(RELN):c.3639A>G (p.Ala1213=)
|
rs765398068
|
0.00003
|
|
NM_005045.4(RELN):c.40G>A (p.Ala14Thr)
|
rs147551940
|
0.00003
|
|
NM_005045.4(RELN):c.4145+20T>G
|
rs1258615041
|
0.00003
|
|
NM_005045.4(RELN):c.415A>G (p.Thr139Ala)
|
rs1239164551
|
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.4314A>T (p.Gly1438=)
|
rs368010584
|
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.4640G>A (p.Arg1547Gln)
|
rs774277969
|
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.4946G>A (p.Arg1649His)
|
rs748067380
|
0.00003
|
|
NM_005045.4(RELN):c.5023C>G (p.Pro1675Ala)
|
rs770657475
|
0.00003
|
|
NM_005045.4(RELN):c.5157G>A (p.Ser1719=)
|
rs144388452
|
0.00003
|
|
NM_005045.4(RELN):c.544+6C>T
|
rs537314807
|
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.6241G>A (p.Ala2081Thr)
|
rs761368012
|
0.00003
|
|
NM_005045.4(RELN):c.6470C>T (p.Pro2157Leu)
|
rs1412766990
|
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.7121A>G (p.Glu2374Gly)
|
rs1227348163
|
0.00003
|
|
NM_005045.4(RELN):c.7147G>A (p.Ala2383Thr)
|
rs978248682
|
0.00003
|
|
NM_005045.4(RELN):c.7253A>G (p.Asn2418Ser)
|
rs145844782
|
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.8552A>T (p.Tyr2851Phe)
|
rs1319092399
|
0.00003
|
|
NM_005045.4(RELN):c.855A>G (p.Leu285=)
|
rs749680856
|
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.9091A>T (p.Ile3031Phe)
|
rs773318461
|
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.9463G>A (p.Val3155Ile)
|
rs769668891
|
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.9643A>G (p.Thr3215Ala)
|
rs142094612
|
0.00003
|
|
NM_005045.4(RELN):c.9750C>T (p.Asp3250=)
|
rs539337691
|
0.00003
|
|
NM_005045.4(RELN):c.9753G>C (p.Glu3251Asp)
|
rs756854888
|
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.1034G>A (p.Arg345His)
|
rs752079019
|
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.1225G>A (p.Glu409Lys)
|
rs1332074487
|
0.00003
|
|
NM_005076.5(CNTN2):c.1240+18G>T
|
rs200630793
|
0.00003
|
|
NM_005076.5(CNTN2):c.1294C>T (p.Arg432Cys)
|
rs531063248
|
0.00003
|
|
NM_005076.5(CNTN2):c.1441T>C (p.Ser481Pro)
|
rs1362090710
|
0.00003
|
|
NM_005076.5(CNTN2):c.169G>A (p.Val57Met)
|
rs374208965
|
0.00003
|
|
NM_005076.5(CNTN2):c.1734G>A (p.Gln578=)
|
rs200403480
|
0.00003
|
|
NM_005076.5(CNTN2):c.1751A>G (p.Lys584Arg)
|
rs371269837
|
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.1936C>T (p.Arg646Cys)
|
rs771294491
|
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.215+6G>C
|
rs370377460
|
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.2902T>C (p.Trp968Arg)
|
rs770455192
|
0.00003
|
|
NM_005076.5(CNTN2):c.2934C>A (p.Gly978=)
|
rs138851018
|
0.00003
|
|
NM_005076.5(CNTN2):c.3047G>A (p.Arg1016His)
|
rs554176359
|
0.00003
|
|
NM_005076.5(CNTN2):c.3089C>T (p.Ala1030Val)
|
rs771548059
|
0.00003
|
|
NM_005076.5(CNTN2):c.3110C>T (p.Ser1037Phe)
|
rs372411999
|
0.00003
|
|
NM_005076.5(CNTN2):c.358G>A (p.Val120Ile)
|
rs1424524492
|
0.00003
|
|
NM_005076.5(CNTN2):c.500G>A (p.Arg167His)
|
rs773067015
|
0.00003
|
|
NM_005076.5(CNTN2):c.513C>T (p.Asn171=)
|
rs371187600
|
0.00003
|
|
NM_005076.5(CNTN2):c.536C>T (p.Thr179Met)
|
rs376459307
|
0.00003
|
|
NM_005076.5(CNTN2):c.697+20G>A
|
rs906628634
|
0.00003
|
|
NM_005076.5(CNTN2):c.923C>T (p.Ala308Val)
|
rs370834023
|
0.00003
|
|
NM_005097.4(LGI1):c.*323A>C
|
rs767119123
|
0.00003
|
|
NM_005097.4(LGI1):c.1318G>A (p.Val440Met)
|
rs144400448
|
0.00003
|
|
NM_005097.4(LGI1):c.132C>T (p.Ala44=)
|
rs751847276
|
0.00003
|
|
NM_005097.4(LGI1):c.1336A>C (p.Ile446Leu)
|
rs769204967
|
0.00003
|
|
NM_005097.4(LGI1):c.1459T>C (p.Tyr487His)
|
rs748991956
|
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.34G>T (p.Ala12Ser)
|
rs770065197
|
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.1057A>G (p.Ile353Val)
|
rs542349309
|
0.00003
|
|
NM_005506.4(SCARB2):c.1116G>A (p.Leu372=)
|
rs564647544
|
0.00003
|
|
NM_005506.4(SCARB2):c.117G>A (p.Lys39=)
|
rs1006710581
|
0.00003
|
|
NM_005506.4(SCARB2):c.1249A>G (p.Ile417Val)
|
rs778593496
|
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.280C>T (p.Leu94Phe)
|
rs752416481
|
0.00003
|
|
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter)
|
rs200053119
|
0.00003
|
|
NM_005506.4(SCARB2):c.468C>T (p.Ile156=)
|
rs771468161
|
0.00003
|
|
NM_005506.4(SCARB2):c.523G>A (p.Glu175Lys)
|
rs751711805
|
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_005506.4(SCARB2):c.863A>G (p.Gln288Arg)
|
rs963202088
|
0.00003
|
|
NM_005670.4(EPM2A):c.156G>A (p.Leu52=)
|
rs1196934711
|
0.00003
|
|
NM_005670.4(EPM2A):c.190G>A (p.Val64Met)
|
rs749279494
|
0.00003
|
|
NM_005670.4(EPM2A):c.214G>A (p.Ala72Thr)
|
rs992596583
|
0.00003
|
|
NM_005670.4(EPM2A):c.241G>A (p.Val81Met)
|
rs747386643
|
0.00003
|
|
NM_005670.4(EPM2A):c.304A>G (p.Asn102Asp)
|
rs376750373
|
0.00003
|
|
NM_005670.4(EPM2A):c.441T>C (p.Phe147=)
|
rs965931486
|
0.00003
|
|
NM_005670.4(EPM2A):c.553G>A (p.Gly185Arg)
|
rs796052423
|
0.00003
|
|
NM_005670.4(EPM2A):c.631C>A (p.Pro211Thr)
|
rs748048885
|
0.00003
|
|
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)
|
rs104893950
|
0.00003
|
|
NM_005670.4(EPM2A):c.761C>T (p.Ala254Val)
|
rs138798058
|
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.815G>A (p.Arg272His)
|
rs958366800
|
0.00003
|
|
NM_005670.4(EPM2A):c.919G>A (p.Glu307Lys)
|
rs754779408
|
0.00003
|
|
NM_005670.4(EPM2A):c.936G>A (p.Arg312=)
|
rs773315475
|
0.00003
|
|
NM_006545.5(NPRL2):c.694G>A (p.Val232Ile)
|
rs767088341
|
0.00003
|
|
NM_006922.4(SCN3A):c.3682A>G (p.Ile1228Val)
|
rs769710212
|
0.00003
|
|
NM_014141.6(CNTNAP2):c.1249G>T (p.Asp417Tyr)
|
rs147815978
|
0.00003
|
|
NM_018100.4(EFHC1):c.1016G>A (p.Gly339Glu)
|
rs779882152
|
0.00003
|
|
NM_018100.4(EFHC1):c.105C>T (p.Asn35=)
|
rs534406651
|
0.00003
|
|
NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp)
|
rs371151471
|
0.00003
|
|
NM_018100.4(EFHC1):c.1225G>A (p.Val409Ile)
|
rs766874585
|
0.00003
|
|
NM_018100.4(EFHC1):c.125G>C (p.Arg42Pro)
|
rs773598517
|
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.1606C>G (p.Arg536Gly)
|
rs779990464
|
0.00003
|
|
NM_018100.4(EFHC1):c.1639A>G (p.Ser547Gly)
|
rs759767484
|
0.00003
|
|
NM_018100.4(EFHC1):c.1765G>A (p.Glu589Lys)
|
rs201197637
|
0.00003
|
|
NM_018100.4(EFHC1):c.286-1G>A
|
rs1351442830
|
0.00003
|
|
NM_018100.4(EFHC1):c.352C>T (p.Arg118Cys)
|
rs764096785
|
0.00003
|
|
NM_018100.4(EFHC1):c.544C>T (p.Arg182Cys)
|
rs200191497
|
0.00003
|
|
NM_018100.4(EFHC1):c.778C>T (p.Arg260Trp)
|
rs1164027334
|
0.00003
|
|
NM_018100.4(EFHC1):c.880C>T (p.Arg294Cys)
|
rs201543041
|
0.00003
|
|
NM_018100.4(EFHC1):c.896A>G (p.Lys299Arg)
|
rs138973203
|
0.00003
|
|
NM_018941.4(CLN8):c.288G>A (p.Ala96=)
|
rs533351136
|
0.00003
|
|
NM_018941.4(CLN8):c.697C>G (p.Leu233Val)
|
rs1380901432
|
0.00003
|
|
NM_020361.5(CPA6):c.-51C>A
|
rs758163267
|
0.00003
|
|
NM_020361.5(CPA6):c.107G>T (p.Arg36Leu)
|
rs183899632
|
0.00003
|
|
NM_020361.5(CPA6):c.127A>G (p.Ile43Val)
|
rs766547893
|
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.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.1188C>T (p.His396=)
|
rs544796091
|
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.1777G>A (p.Val593Met)
|
rs779590747
|
0.00003
|
|
NM_020822.3(KCNT1):c.1806C>T (p.Asp602=)
|
rs1060505001
|
0.00003
|
|
NM_020822.3(KCNT1):c.2045G>A (p.Arg682Gln)
|
rs1188425438
|
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.2117G>A (p.Arg706Gln)
|
rs761289867
|
0.00003
|
|
NM_020822.3(KCNT1):c.2119C>T (p.Arg707Trp)
|
rs568144711
|
0.00003
|
|
NM_020822.3(KCNT1):c.2176G>A (p.Asp726Asn)
|
rs1367605908
|
0.00003
|
|
NM_020822.3(KCNT1):c.2201A>G (p.Asp734Gly)
|
rs1360863995
|
0.00003
|
|
NM_020822.3(KCNT1):c.2221G>A (p.Asp741Asn)
|
rs375403065
|
0.00003
|
|
NM_020822.3(KCNT1):c.2224G>A (p.Glu742Lys)
|
rs749302270
|
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.3045C>T (p.Gly1015=)
|
rs576099213
|
0.00003
|
|
NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=)
|
rs141695705
|
0.00003
|
|
NM_020822.3(KCNT1):c.3149C>T (p.Thr1050Ile)
|
rs1313669242
|
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.3537C>T (p.Tyr1179=)
|
rs149927148
|
0.00003
|
|
NM_020822.3(KCNT1):c.3671C>T (p.Ser1224Phe)
|
rs769083534
|
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.675G>A (p.Thr225=)
|
rs773255063
|
0.00003
|
|
NM_020822.3(KCNT1):c.732G>A (p.Leu244=)
|
rs759580596
|
0.00003
|
|
NM_020822.3(KCNT1):c.776C>T (p.Ala259Val)
|
rs776559951
|
0.00003
|
|
NM_020822.3(KCNT1):c.880C>T (p.Arg294Trp)
|
rs369101729
|
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.591-3C>T
|
rs755223903
|
0.00003
|
|
NM_021267.5(CERS1):c.768C>A (p.Leu256=)
|
rs764610749
|
0.00003
|
|
NM_021267.5(CERS1):c.836C>G (p.Pro279Arg)
|
rs778227106
|
0.00003
|
|
NM_032737.4(LMNB2):c.1006C>T (p.Arg336Trp)
|
rs775486191
|
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.1420G>A (p.Val474Ile)
|
rs771415464
|
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.1631C>T (p.Ser544Leu)
|
rs776253195
|
0.00003
|
|
NM_032737.4(LMNB2):c.1634C>T (p.Thr545Met)
|
rs746479856
|
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.395A>G (p.Asn132Ser)
|
rs780297843
|
0.00003
|
|
NM_032737.4(LMNB2):c.421G>A (p.Glu141Lys)
|
rs370270636
|
0.00003
|
|
NM_032737.4(LMNB2):c.666G>A (p.Arg222=)
|
rs376727524
|
0.00003
|
|
NM_032737.4(LMNB2):c.745C>A (p.Gln249Lys)
|
rs752056497
|
0.00003
|
|
NM_032737.4(LMNB2):c.802G>A (p.Asp268Asn)
|
rs1013986586
|
0.00003
|
|
NM_032737.4(LMNB2):c.911G>A (p.Arg304His)
|
rs567796688
|
0.00003
|
|
NM_153026.3(PRICKLE1):c.*614G>A
|
rs886049372
|
0.00003
|
|
NM_153026.3(PRICKLE1):c.1145G>A (p.Arg382Lys)
|
rs748636455
|
0.00003
|
|
NM_153026.3(PRICKLE1):c.1298A>G (p.Asn433Ser)
|
rs748766846
|
0.00003
|
|
NM_153026.3(PRICKLE1):c.1648G>A (p.Val550Met)
|
rs760050261
|
0.00003
|
|
NM_153026.3(PRICKLE1):c.1676C>T (p.Ser559Leu)
|
rs771584708
|
0.00003
|
|
NM_153026.3(PRICKLE1):c.1869G>A (p.Lys623=)
|
rs150809651
|
0.00003
|
|
NM_153026.3(PRICKLE1):c.1985A>G (p.Asn662Ser)
|
rs769599129
|
0.00003
|
|
NM_153026.3(PRICKLE1):c.2027G>A (p.Arg676Gln)
|
rs377294908
|
0.00003
|
|
NM_153026.3(PRICKLE1):c.2091C>T (p.Pro697=)
|
rs756787066
|
0.00003
|
|
NM_153026.3(PRICKLE1):c.2224G>A (p.Gly742Ser)
|
rs370967125
|
0.00003
|
|
NM_153026.3(PRICKLE1):c.2265C>T (p.Tyr755=)
|
rs148989635
|
0.00003
|
|
NM_153026.3(PRICKLE1):c.2425C>G (p.Gln809Glu)
|
rs142613488
|
0.00003
|
|
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln)
|
rs113994140
|
0.00003
|
|
NM_153026.3(PRICKLE1):c.424G>A (p.Ala142Thr)
|
rs1060502984
|
0.00003
|
|
NM_153026.3(PRICKLE1):c.47G>A (p.Cys16Tyr)
|
rs746768839
|
0.00003
|
|
NM_153026.3(PRICKLE1):c.612A>C (p.Thr204=)
|
rs755994241
|
0.00003
|
|
NM_153026.3(PRICKLE1):c.706C>T (p.Arg236Cys)
|
rs372213429
|
0.00003
|
|
NM_153026.3(PRICKLE1):c.914C>T (p.Thr305Met)
|
rs375459191
|
0.00003
|
|
NM_153026.3(PRICKLE1):c.977G>A (p.Arg326Gln)
|
rs752116352
|
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.121G>A (p.Ala41Thr)
|
rs766856368
|
0.00003
|
|
NM_153033.5(KCTD7):c.132G>A (p.Leu44=)
|
rs1057523155
|
0.00003
|
|
NM_153033.5(KCTD7):c.145T>C (p.Phe49Leu)
|
rs559020294
|
0.00003
|
|
NM_153033.5(KCTD7):c.171C>T (p.Ile57=)
|
rs376524066
|
0.00003
|
|
NM_153033.5(KCTD7):c.226A>G (p.Met76Val)
|
rs200569899
|
0.00003
|
|
NM_153033.5(KCTD7):c.400A>G (p.Ile134Val)
|
rs751720071
|
0.00003
|
|
NM_153033.5(KCTD7):c.519C>T (p.Ile173=)
|
rs866499042
|
0.00003
|
|
NM_178013.4(PRIMA1):c.146G>A (p.Arg49Gln)
|
rs745490663
|
0.00003
|
|
NM_178013.4(PRIMA1):c.176C>T (p.Pro59Leu)
|
rs550883370
|
0.00003
|
|
NM_178013.4(PRIMA1):c.393C>T (p.Ser131=)
|
rs375379166
|
0.00003
|
|
NM_178013.4(PRIMA1):c.98C>T (p.Thr33Met)
|
rs760874562
|
0.00003
|
|
NM_198586.3(NHLRC1):c.1017T>C (p.Ser339=)
|
rs747655441
|
0.00003
|
|
NM_198586.3(NHLRC1):c.1072A>G (p.Met358Val)
|
rs765443391
|
0.00003
|
|
NM_198586.3(NHLRC1):c.1087C>G (p.Leu363Val)
|
rs1275828844
|
0.00003
|
|
NM_198586.3(NHLRC1):c.122C>A (p.Pro41Gln)
|
rs759908693
|
0.00003
|
|
NM_198586.3(NHLRC1):c.337G>A (p.Ala113Thr)
|
rs570505924
|
0.00003
|
|
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn)
|
rs769301934
|
0.00003
|
|
NM_198586.3(NHLRC1):c.855G>C (p.Leu285=)
|
rs375475285
|
0.00003
|
|
NM_198859.4(PRICKLE2):c.*2633G>A
|
rs140420417
|
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_000100.3(CSTB):c.-43C>G
|
rs886057113
|
0.00002
|
|
NM_000100.4(CSTB):c.158A>G (p.Tyr53Cys)
|
rs762082236
|
0.00002
|
|
NM_000100.4(CSTB):c.168+13C>T
|
rs910966552
|
0.00002
|
|
NM_000100.4(CSTB):c.180C>T (p.Gly60=)
|
rs771027631
|
0.00002
|
|
NM_000100.4(CSTB):c.202C>T (p.Arg68Ter)
|
rs74315442
|
0.00002
|
|
NM_000100.4(CSTB):c.235C>T (p.Pro79Ser)
|
rs766285245
|
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_000742.4(CHRNA2):c.1019C>T (p.Thr340Ile)
|
rs758255768
|
0.00002
|
|
NM_000742.4(CHRNA2):c.1037C>A (p.Thr346Asn)
|
rs767656036
|
0.00002
|
|
NM_000742.4(CHRNA2):c.1052A>G (p.Asn351Ser)
|
rs770305730
|
0.00002
|
|
NM_000742.4(CHRNA2):c.1127G>A (p.Arg376Gln)
|
rs374512926
|
0.00002
|
|
NM_000742.4(CHRNA2):c.1165C>T (p.Leu389Phe)
|
rs796052303
|
0.00002
|
|
NM_000742.4(CHRNA2):c.1223T>C (p.Val408Ala)
|
rs747909980
|
0.00002
|
|
NM_000742.4(CHRNA2):c.1270G>A (p.Ala424Thr)
|
rs767138285
|
0.00002
|
|
NM_000742.4(CHRNA2):c.1528A>G (p.Ile510Val)
|
rs528528743
|
0.00002
|
|
NM_000742.4(CHRNA2):c.1531G>A (p.Val511Ile)
|
rs796052306
|
0.00002
|
|
NM_000742.4(CHRNA2):c.247G>A (p.Val83Met)
|
rs757700781
|
0.00002
|
|
NM_000742.4(CHRNA2):c.294+5G>A
|
rs774398407
|
0.00002
|
|
NM_000742.4(CHRNA2):c.394T>A (p.Ser132Thr)
|
rs775662796
|
0.00002
|
|
NM_000742.4(CHRNA2):c.417G>T (p.Met139Ile)
|
rs748755253
|
0.00002
|
|
NM_000742.4(CHRNA2):c.432C>A (p.Asp144Glu)
|
rs796052297
|
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.688G>A (p.Glu230Lys)
|
rs747493891
|
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.880G>A (p.Gly294Ser)
|
rs1039488837
|
0.00002
|
|
NM_000742.4(CHRNA2):c.924C>T (p.Thr308=)
|
rs752321195
|
0.00002
|
|
NM_000742.4(CHRNA2):c.930C>T (p.Phe310=)
|
rs554976506
|
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.1054G>A (p.Val352Met)
|
rs121912264
|
0.00002
|
|
NM_000744.7(CHRNA4):c.1082C>T (p.Pro361Leu)
|
rs267606048
|
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.118C>T (p.Leu40Phe)
|
rs1568819698
|
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.1412T>C (p.Met471Thr)
|
rs1317529556
|
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.1537C>T (p.Arg513Cys)
|
rs201864944
|
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.181G>A (p.Val61Met)
|
rs150451372
|
0.00002
|
|
NM_000744.7(CHRNA4):c.194G>A (p.Arg65His)
|
rs200867143
|
0.00002
|
|
NM_000744.7(CHRNA4):c.228+10G>T
|
rs759148756
|
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.334C>T (p.Arg112Cys)
|
rs375654386
|
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.362C>T (p.Pro121Leu)
|
rs377114983
|
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.640G>A (p.Ala214Thr)
|
rs758348186
|
0.00002
|
|
NM_000744.7(CHRNA4):c.712G>A (p.Val238Ile)
|
rs745790876
|
0.00002
|
|
NM_000744.7(CHRNA4):c.751A>G (p.Ile251Val)
|
rs776882201
|
0.00002
|
|
NM_000744.7(CHRNA4):c.754A>G (p.Ile252Val)
|
rs201865234
|
0.00002
|
|
NM_000744.7(CHRNA4):c.808G>A (p.Glu270Lys)
|
rs765977956
|
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.1034C>T (p.Ala345Val)
|
rs141511378
|
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.1114G>A (p.Gly372Ser)
|
rs753731408
|
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.1314G>A (p.Met438Ile)
|
rs200910048
|
0.00002
|
|
NM_000748.3(CHRNB2):c.211-20G>C
|
rs768075022
|
0.00002
|
|
NM_000748.3(CHRNB2):c.329A>C (p.Lys110Thr)
|
rs199885651
|
0.00002
|
|
NM_000748.3(CHRNB2):c.453C>T (p.Tyr151=)
|
rs781506269
|
0.00002
|
|
NM_000748.3(CHRNB2):c.640G>A (p.Glu214Lys)
|
rs780175030
|
0.00002
|
|
NM_000748.3(CHRNB2):c.65-9C>T
|
rs774799731
|
0.00002
|
|
NM_000748.3(CHRNB2):c.734del (p.Cys245fs)
|
rs780184576
|
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_001037.5(SCN1B):c.472G>C (p.Val158Leu)
|
rs138450474
|
0.00002
|
|
NM_001077350.3(NPRL3):c.1032-8G>A
|
rs370350676
|
0.00002
|
|
NM_001077350.3(NPRL3):c.1048G>A (p.Glu350Lys)
|
rs761443880
|
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.1199G>A (p.Arg400His)
|
rs535478389
|
0.00002
|
|
NM_001077350.3(NPRL3):c.1265G>A (p.Arg422His)
|
rs765841003
|
0.00002
|
|
NM_001077350.3(NPRL3):c.127C>T (p.Arg43Cys)
|
rs770318147
|
0.00002
|
|
NM_001077350.3(NPRL3):c.1282G>A (p.Val428Ile)
|
rs771113936
|
0.00002
|
|
NM_001077350.3(NPRL3):c.1306G>A (p.Gly436Ser)
|
rs548390527
|
0.00002
|
|
NM_001077350.3(NPRL3):c.1323G>A (p.Thr441=)
|
rs770952322
|
0.00002
|
|
NM_001077350.3(NPRL3):c.1330G>A (p.Ala444Thr)
|
rs368198378
|
0.00002
|
|
NM_001077350.3(NPRL3):c.1448C>T (p.Thr483Met)
|
rs1055200832
|
0.00002
|
|
NM_001077350.3(NPRL3):c.1484G>A (p.Arg495His)
|
rs750844568
|
0.00002
|
|
NM_001077350.3(NPRL3):c.1531C>T (p.Arg511Cys)
|
rs747602641
|
0.00002
|
|
NM_001077350.3(NPRL3):c.1625T>C (p.Met542Thr)
|
rs185556688
|
0.00002
|
|
NM_001077350.3(NPRL3):c.318+3A>T
|
rs746765533
|
0.00002
|
|
NM_001077350.3(NPRL3):c.428A>G (p.His143Arg)
|
rs959374963
|
0.00002
|
|
NM_001077350.3(NPRL3):c.432C>T (p.Asn144=)
|
rs371406653
|
0.00002
|
|
NM_001077350.3(NPRL3):c.470A>G (p.Glu157Gly)
|
rs762922931
|
0.00002
|
|
NM_001077350.3(NPRL3):c.5G>C (p.Arg2Pro)
|
rs752487586
|
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.755T>C (p.Leu252Pro)
|
rs747035776
|
0.00002
|
|
NM_001077350.3(NPRL3):c.769C>G (p.Pro257Ala)
|
rs746568841
|
0.00002
|
|
NM_001077350.3(NPRL3):c.88A>C (p.Arg30=)
|
rs542337990
|
0.00002
|
|
NM_001077350.3(NPRL3):c.905C>T (p.Ala302Val)
|
rs777790535
|
0.00002
|
|
NM_001077350.3(NPRL3):c.958G>A (p.Gly320Ser)
|
rs375417903
|
0.00002
|
|
NM_001099403.2(PRDM8):c.1075G>A (p.Gly359Ser)
|
rs1369436425
|
0.00002
|
|
NM_001099403.2(PRDM8):c.1114G>A (p.Ala372Thr)
|
rs910463955
|
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_001099403.2(PRDM8):c.1300G>A (p.Glu434Lys)
|
rs1267354661
|
0.00002
|
|
NM_001099403.2(PRDM8):c.269G>A (p.Arg90Gln)
|
rs748762942
|
0.00002
|
|
NM_001099403.2(PRDM8):c.26G>A (p.Gly9Asp)
|
rs756625230
|
0.00002
|
|
NM_001099403.2(PRDM8):c.373G>A (p.Glu125Lys)
|
rs1162839638
|
0.00002
|
|
NM_001099403.2(PRDM8):c.412C>T (p.Leu138Phe)
|
rs775975261
|
0.00002
|
|
NM_001099403.2(PRDM8):c.679T>A (p.Phe227Ile)
|
rs768596814
|
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.1537G>A (p.Ala513Thr)
|
rs769979889
|
0.00002
|
|
NM_001112741.2(KCNC1):c.1662C>T (p.Tyr554=)
|
rs578025939
|
0.00002
|
|
NM_001112741.2(KCNC1):c.1681G>A (p.Gly561Arg)
|
rs1417612823
|
0.00002
|
|
NM_001112741.2(KCNC1):c.228G>A (p.Leu76=)
|
rs1309850181
|
0.00002
|
|
NM_001112741.2(KCNC1):c.433G>C (p.Gly145Arg)
|
rs759773311
|
0.00002
|
|
NM_001112741.2(KCNC1):c.688G>C (p.Gly230Arg)
|
rs1323463103
|
0.00002
|
|
NM_001112741.2(KCNC1):c.696A>C (p.Gln232His)
|
rs775885483
|
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.1201A>C (p.Asn401His)
|
rs780903060
|
0.00002
|
|
NM_001122752.2(SERPINI1):c.1221C>A (p.Phe407Leu)
|
rs149238028
|
0.00002
|
|
NM_001122752.2(SERPINI1):c.192C>T (p.Ala64=)
|
rs889665899
|
0.00002
|
|
NM_001122752.2(SERPINI1):c.221A>G (p.His74Arg)
|
rs757918199
|
0.00002
|
|
NM_001122752.2(SERPINI1):c.281C>T (p.Ser94Leu)
|
rs781486255
|
0.00002
|
|
NM_001122752.2(SERPINI1):c.388A>C (p.Lys130Gln)
|
rs967193064
|
0.00002
|
|
NM_001122752.2(SERPINI1):c.881+4T>G
|
rs766034834
|
0.00002
|
|
NM_001122752.2(SERPINI1):c.917T>C (p.Val306Ala)
|
rs779353952
|
0.00002
|
|
NM_001122752.2(SERPINI1):c.923A>C (p.Lys308Thr)
|
rs201695047
|
0.00002
|
|
NM_001122752.2(SERPINI1):c.980-7T>G
|
rs1459038029
|
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.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.1629C>T (p.Thr543=)
|
rs758378272
|
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.2543G>A (p.Cys848Tyr)
|
rs779911797
|
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.2686A>G (p.Lys896Glu)
|
rs1436853714
|
0.00002
|
|
NM_001134407.3(GRIN2A):c.2695C>T (p.Arg899Trp)
|
rs796052553
|
0.00002
|
|
NM_001134407.3(GRIN2A):c.2779A>G (p.Arg927Gly)
|
rs761044372
|
0.00002
|
|
NM_001134407.3(GRIN2A):c.2907C>G (p.Asn969Lys)
|
rs772589363
|
0.00002
|
|
NM_001134407.3(GRIN2A):c.2908C>T (p.Arg970Trp)
|
rs765257420
|
0.00002
|
|
NM_001134407.3(GRIN2A):c.3028C>A (p.Pro1010Thr)
|
rs753651908
|
0.00002
|
|
NM_001134407.3(GRIN2A):c.3192G>A (p.Thr1064=)
|
rs748790515
|
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.*1243T>C
|
rs141466507
|
0.00002
|
|
NM_001161352.2(KCNMA1):c.*2326C>A
|
rs199764115
|
0.00002
|
|
NM_001161352.2(KCNMA1):c.1224-4T>A
|
rs200167721
|
0.00002
|
|
NM_001161352.2(KCNMA1):c.1306G>A (p.Val436Ile)
|
rs762346849
|
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.1554G>T (p.Lys518Asn)
|
rs201996416
|
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.1849A>G (p.Thr617Ala)
|
rs199572642
|
0.00002
|
|
NM_001161352.2(KCNMA1):c.1928+10C>T
|
rs200921631
|
0.00002
|
|
NM_001161352.2(KCNMA1):c.2089C>T (p.Arg697Trp)
|
rs202188493
|
0.00002
|
|
NM_001161352.2(KCNMA1):c.2092C>T (p.Pro698Ser)
|
rs886043569
|
0.00002
|
|
NM_001161352.2(KCNMA1):c.2481C>G (p.Ile827Met)
|
rs760789370
|
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.2770G>A (p.Val924Ile)
|
rs764912308
|
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.3462-10C>T
|
rs559764920
|
0.00002
|
|
NM_001161352.2(KCNMA1):c.3546C>T (p.Ala1182=)
|
rs200763661
|
0.00002
|
|
NM_001161352.2(KCNMA1):c.365G>C (p.Gly122Ala)
|
rs199568153
|
0.00002
|
|
NM_001161352.2(KCNMA1):c.3674G>A (p.Arg1225Gln)
|
rs200410171
|
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_001161352.2(KCNMA1):c.92C>G (p.Ala31Gly)
|
rs201551432
|
0.00002
|
|
NM_001242896.3(DEPDC5):c.1078A>G (p.Asn360Asp)
|
rs751948408
|
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.1404G>T (p.Arg468Ser)
|
rs544863765
|
0.00002
|
|
NM_001242896.3(DEPDC5):c.1411G>A (p.Gly471Ser)
|
rs756780050
|
0.00002
|
|
NM_001242896.3(DEPDC5):c.1416A>G (p.Pro472=)
|
rs930376201
|
0.00002
|
|
NM_001242896.3(DEPDC5):c.1445+6C>T
|
rs1275802105
|
0.00002
|
|
NM_001242896.3(DEPDC5):c.1459C>G (p.Arg487Gly)
|
rs587777459
|
0.00002
|
|
NM_001242896.3(DEPDC5):c.1475G>A (p.Arg492Gln)
|
rs745893053
|
0.00002
|
|
NM_001242896.3(DEPDC5):c.1729G>A (p.Val577Ile)
|
rs573430885
|
0.00002
|
|
NM_001242896.3(DEPDC5):c.1775C>T (p.Thr592Met)
|
rs187222350
|
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.1960T>C (p.Ser654Pro)
|
rs774477005
|
0.00002
|
|
NM_001242896.3(DEPDC5):c.2006+3G>A
|
rs752184633
|
0.00002
|
|
NM_001242896.3(DEPDC5):c.2105-4A>G
|
rs888653334
|
0.00002
|
|
NM_001242896.3(DEPDC5):c.2171-15dup
|
rs765158089
|
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.2286C>T (p.Asp762=)
|
rs200465447
|
0.00002
|
|
NM_001242896.3(DEPDC5):c.2355-16C>T
|
rs376110122
|
0.00002
|
|
NM_001242896.3(DEPDC5):c.2519T>C (p.Leu840Pro)
|
rs746197380
|
0.00002
|
|
NM_001242896.3(DEPDC5):c.2699A>G (p.Glu900Gly)
|
rs755495732
|
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.2995C>T (p.Arg999Trp)
|
rs375050296
|
0.00002
|
|
NM_001242896.3(DEPDC5):c.3002G>A (p.Arg1001His)
|
rs1473617562
|
0.00002
|
|
NM_001242896.3(DEPDC5):c.3068C>T (p.Thr1023Met)
|
rs780752142
|
0.00002
|
|
NM_001242896.3(DEPDC5):c.3247A>C (p.Met1083Leu)
|
rs768817912
|
0.00002
|
|
NM_001242896.3(DEPDC5):c.3269G>A (p.Gly1090Glu)
|
rs1217171263
|
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.3823G>A (p.Ala1275Thr)
|
rs1453526282
|
0.00002
|
|
NM_001242896.3(DEPDC5):c.3827C>T (p.Thr1276Ile)
|
rs780045152
|
0.00002
|
|
NM_001242896.3(DEPDC5):c.3836A>G (p.His1279Arg)
|
rs201765981
|
0.00002
|
|
NM_001242896.3(DEPDC5):c.3956G>A (p.Arg1319Gln)
|
rs777643503
|
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.483+4A>G
|
rs369403922
|
0.00002
|
|
NM_001242896.3(DEPDC5):c.504G>A (p.Ser168=)
|
rs577652236
|
0.00002
|
|
NM_001242896.3(DEPDC5):c.572A>G (p.Tyr191Cys)
|
rs749809456
|
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_001242896.3(DEPDC5):c.95A>G (p.His32Arg)
|
rs760541660
|
0.00002
|
|
NM_004287.5(GOSR2):c.*1277C>G
|
rs577505377
|
0.00002
|
|
NM_004287.5(GOSR2):c.*2195C>A
|
rs565638240
|
0.00002
|
|
NM_004287.5(GOSR2):c.133T>C (p.Phe45Leu)
|
rs1060500714
|
0.00002
|
|
NM_004287.5(GOSR2):c.229G>A (p.Val77Ile)
|
rs1407806851
|
0.00002
|
|
NM_004287.5(GOSR2):c.231C>T (p.Val77=)
|
rs774359254
|
0.00002
|
|
NM_004287.5(GOSR2):c.268C>T (p.Arg90Trp)
|
rs201101417
|
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.563A>G (p.Gln188Arg)
|
rs776748629
|
0.00002
|
|
NM_004287.5(GOSR2):c.576T>C (p.Phe192=)
|
rs1433213435
|
0.00002
|
|
NM_004287.5(GOSR2):c.579G>A (p.Met193Ile)
|
rs768377570
|
0.00002
|
|
NM_004287.5(GOSR2):c.636A>G (p.Thr212=)
|
rs990159762
|
0.00002
|
|
NM_004287.5(GOSR2):c.68A>G (p.Glu23Gly)
|
rs200071814
|
0.00002
|
|
NM_004287.5(GOSR2):c.94+5G>A
|
rs754004382
|
0.00002
|
|
NM_004519.4(KCNQ3):c.1000G>A (p.Ala334Thr)
|
rs1381851622
|
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.1278C>T (p.Ser426=)
|
rs755465811
|
0.00002
|
|
NM_005045.4(RELN):c.1331C>T (p.Thr444Met)
|
rs558024670
|
0.00002
|
|
NM_005045.4(RELN):c.1405A>G (p.Thr469Ala)
|
rs182533022
|
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.1880A>G (p.Glu627Gly)
|
rs779007436
|
0.00002
|
|
NM_005045.4(RELN):c.1892+8C>T
|
rs778110423
|
0.00002
|
|
NM_005045.4(RELN):c.1915C>A (p.Leu639Ile)
|
rs150988816
|
0.00002
|
|
NM_005045.4(RELN):c.1936C>T (p.Arg646Trp)
|
rs115831287
|
0.00002
|
|
NM_005045.4(RELN):c.1937G>A (p.Arg646Gln)
|
rs377185504
|
0.00002
|
|
NM_005045.4(RELN):c.1948A>T (p.Ile650Phe)
|
rs371652596
|
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.2168A>G (p.Tyr723Cys)
|
rs768119894
|
0.00002
|
|
NM_005045.4(RELN):c.2189G>A (p.Arg730His)
|
rs370858334
|
0.00002
|
|
NM_005045.4(RELN):c.226+4G>A
|
rs749125854
|
0.00002
|
|
NM_005045.4(RELN):c.226+8C>T
|
rs369454305
|
0.00002
|
|
NM_005045.4(RELN):c.2260C>T (p.Arg754Trp)
|
rs759711654
|
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.2566A>G (p.Ile856Val)
|
rs371309082
|
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.286A>G (p.Thr96Ala)
|
rs564088219
|
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.401G>C (p.Ser134Thr)
|
rs1399507011
|
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.4296A>G (p.Gly1432=)
|
rs757003273
|
0.00002
|
|
NM_005045.4(RELN):c.4397C>T (p.Thr1466Ile)
|
rs188328812
|
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.4649A>T (p.Asp1550Val)
|
rs781465325
|
0.00002
|
|
NM_005045.4(RELN):c.4654A>G (p.Met1552Val)
|
rs558308794
|
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.4985C>T (p.Thr1662Ile)
|
rs750833122
|
0.00002
|
|
NM_005045.4(RELN):c.5005A>C (p.Ser1669Arg)
|
rs1481028795
|
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.5249A>G (p.Tyr1750Cys)
|
rs1449221629
|
0.00002
|
|
NM_005045.4(RELN):c.5273C>T (p.Ala1758Val)
|
rs753433967
|
0.00002
|
|
NM_005045.4(RELN):c.5324G>A (p.Arg1775Gln)
|
rs748363492
|
0.00002
|
|
NM_005045.4(RELN):c.5350G>A (p.Val1784Met)
|
rs374736779
|
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.5613A>G (p.Lys1871=)
|
rs368944281
|
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.6072+3A>G
|
rs762092040
|
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.6311G>A (p.Arg2104His)
|
rs750878959
|
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.7531G>A (p.Glu2511Lys)
|
rs367906773
|
0.00002
|
|
NM_005045.4(RELN):c.7640C>T (p.Ala2547Val)
|
rs770539689
|
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.7943T>C (p.Leu2648Pro)
|
rs566580675
|
0.00002
|
|
NM_005045.4(RELN):c.7945G>A (p.Asp2649Asn)
|
rs551447146
|
0.00002
|
|
NM_005045.4(RELN):c.8003C>T (p.Thr2668Ile)
|
rs144249461
|
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.821G>A (p.Arg274His)
|
rs143781910
|
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.9076G>A (p.Val3026Met)
|
rs766037038
|
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.9673G>A (p.Val3225Met)
|
rs755369509
|
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.980A>G (p.Gln327Arg)
|
rs890609228
|
0.00002
|
|
NM_005045.4(RELN):c.9826G>A (p.Ala3276Thr)
|
rs781713047
|
0.00002
|
|
NM_005045.4(RELN):c.9933C>T (p.Gly3311=)
|
rs532153046
|
0.00002
|
|
NM_005045.4(RELN):c.9977G>A (p.Arg3326Gln)
|
rs766223649
|
0.00002
|
|
NM_005076.5(CNTN2):c.1033C>T (p.Arg345Cys)
|
rs764472036
|
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.134G>A (p.Ser45Asn)
|
rs779928603
|
0.00002
|
|
NM_005076.5(CNTN2):c.1438C>T (p.Arg480Trp)
|
rs200089665
|
0.00002
|
|
NM_005076.5(CNTN2):c.1439G>A (p.Arg480Gln)
|
rs538046968
|
0.00002
|
|
NM_005076.5(CNTN2):c.1517G>A (p.Arg506Gln)
|
rs561892323
|
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.2002G>A (p.Glu668Lys)
|
rs751783360
|
0.00002
|
|
NM_005076.5(CNTN2):c.2050C>T (p.Arg684Trp)
|
rs756558390
|
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.2201T>C (p.Met734Thr)
|
rs749174452
|
0.00002
|
|
NM_005076.5(CNTN2):c.2380C>T (p.Arg794Cys)
|
rs771474325
|
0.00002
|
|
NM_005076.5(CNTN2):c.2474C>T (p.Ser825Leu)
|
rs965462537
|
0.00002
|
|
NM_005076.5(CNTN2):c.2545-20G>T
|
rs749089664
|
0.00002
|
|
NM_005076.5(CNTN2):c.2549G>A (p.Arg850His)
|
rs548681626
|
0.00002
|
|
NM_005076.5(CNTN2):c.2713G>A (p.Ala905Thr)
|
rs778395637
|
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.2964G>A (p.Gly988=)
|
rs566959580
|
0.00002
|
|
NM_005076.5(CNTN2):c.3038T>C (p.Met1013Thr)
|
rs909612337
|
0.00002
|
|
NM_005076.5(CNTN2):c.3117G>T (p.Glu1039Asp)
|
rs1232718150
|
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.419G>A (p.Arg140Gln)
|
rs768629152
|
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_005076.5(CNTN2):c.808C>T (p.Arg270Trp)
|
rs781526005
|
0.00002
|
|
NM_005076.5(CNTN2):c.845C>T (p.Pro282Leu)
|
rs778415451
|
0.00002
|
|
NM_005076.5(CNTN2):c.850T>C (p.Trp284Arg)
|
rs1340726271
|
0.00002
|
|
NM_005076.5(CNTN2):c.854C>T (p.Thr285Ile)
|
rs772963027
|
0.00002
|
|
NM_005076.5(CNTN2):c.958C>T (p.Arg320Cys)
|
rs759368493
|
0.00002
|
|
NM_005097.4(LGI1):c.1075A>G (p.Ile359Val)
|
rs148263562
|
0.00002
|
|
NM_005097.4(LGI1):c.1220G>A (p.Arg407His)
|
rs201376381
|
0.00002
|
|
NM_005097.4(LGI1):c.1316C>T (p.Ser439Leu)
|
rs143808356
|
0.00002
|
|
NM_005097.4(LGI1):c.1598G>A (p.Arg533His)
|
rs543647504
|
0.00002
|
|
NM_005097.4(LGI1):c.216-15T>C
|
rs1008193551
|
0.00002
|
|
NM_005097.4(LGI1):c.275C>T (p.Ser92Leu)
|
rs772750463
|
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.398A>G (p.His133Arg)
|
rs376452111
|
0.00002
|
|
NM_005097.4(LGI1):c.626G>A (p.Arg209His)
|
rs370151711
|
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_005097.4(LGI1):c.829A>G (p.Asn277Asp)
|
rs571391768
|
0.00002
|
|
NM_005097.4(LGI1):c.983A>G (p.Lys328Arg)
|
rs778819952
|
0.00002
|
|
NM_005506.4(SCARB2):c.1105A>G (p.Ile369Val)
|
rs1311037416
|
0.00002
|
|
NM_005506.4(SCARB2):c.1235A>G (p.Asn412Ser)
|
rs771661901
|
0.00002
|
|
NM_005506.4(SCARB2):c.238A>C (p.Thr80Pro)
|
rs767397350
|
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.515C>T (p.Thr172Ile)
|
rs557392749
|
0.00002
|
|
NM_005506.4(SCARB2):c.746A>G (p.Asn249Ser)
|
rs199837910
|
0.00002
|
|
NM_005506.4(SCARB2):c.816C>G (p.Asp272Glu)
|
rs370666555
|
0.00002
|
|
NM_005506.4(SCARB2):c.824+20G>A
|
rs1257697437
|
0.00002
|
|
NM_005506.4(SCARB2):c.825-3C>T
|
rs772593602
|
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.352G>A (p.Val118Met)
|
rs903313803
|
0.00002
|
|
NM_005670.4(EPM2A):c.446T>C (p.Ile149Thr)
|
rs796052430
|
0.00002
|
|
NM_005670.4(EPM2A):c.477-13A>G
|
rs778452911
|
0.00002
|
|
NM_005670.4(EPM2A):c.487A>G (p.Asn163Asp)
|
rs777767978
|
0.00002
|
|
NM_005670.4(EPM2A):c.595G>T (p.Val199Leu)
|
rs367827948
|
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.715G>A (p.Glu239Lys)
|
rs373652439
|
0.00002
|
|
NM_005670.4(EPM2A):c.768G>A (p.Leu256=)
|
rs753561820
|
0.00002
|
|
NM_005670.4(EPM2A):c.802G>A (p.Ala268Thr)
|
rs748514820
|
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_005670.4(EPM2A):c.934C>T (p.Arg312Trp)
|
rs766334722
|
0.00002
|
|
NM_006922.4(SCN3A):c.3253A>G (p.Ile1085Val)
|
rs144957412
|
0.00002
|
|
NM_014141.6(CNTNAP2):c.2147A>G (p.Tyr716Cys)
|
rs760930032
|
0.00002
|
|
NM_015973.5(GAL):c.205G>A (p.Glu69Lys)
|
rs571107777
|
0.00002
|
|
NM_015973.5(GAL):c.365G>A (p.Arg122Gln)
|
rs777842785
|
0.00002
|
|
NM_018100.4(EFHC1):c.1096C>T (p.Arg366Cys)
|
rs573582894
|
0.00002
|
|
NM_018100.4(EFHC1):c.1147C>T (p.Pro383Ser)
|
rs546262142
|
0.00002
|
|
NM_018100.4(EFHC1):c.1151A>G (p.Tyr384Cys)
|
rs777659552
|
0.00002
|
|
NM_018100.4(EFHC1):c.1280A>G (p.Glu427Gly)
|
rs756563341
|
0.00002
|
|
NM_018100.4(EFHC1):c.1309A>T (p.Arg437Ter)
|
rs776277918
|
0.00002
|
|
NM_018100.4(EFHC1):c.1310G>A (p.Arg437Lys)
|
rs761440315
|
0.00002
|
|
NM_018100.4(EFHC1):c.1389G>A (p.Gly463=)
|
rs772874099
|
0.00002
|
|
NM_018100.4(EFHC1):c.1451A>G (p.Tyr484Cys)
|
rs201261630
|
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.16G>A (p.Val6Met)
|
rs772150303
|
0.00002
|
|
NM_018100.4(EFHC1):c.1814C>T (p.Ser605Leu)
|
rs373267174
|
0.00002
|
|
NM_018100.4(EFHC1):c.1888A>G (p.Asn630Asp)
|
rs747171841
|
0.00002
|
|
NM_018100.4(EFHC1):c.305A>G (p.Tyr102Cys)
|
rs368992606
|
0.00002
|
|
NM_018100.4(EFHC1):c.43A>G (p.Thr15Ala)
|
rs750899949
|
0.00002
|
|
NM_018100.4(EFHC1):c.458G>A (p.Arg153Gln)
|
rs745600475
|
0.00002
|
|
NM_018100.4(EFHC1):c.546C>T (p.Arg182=)
|
rs377349630
|
0.00002
|
|
NM_018100.4(EFHC1):c.569C>T (p.Thr190Ile)
|
rs1430629936
|
0.00002
|
|
NM_018100.4(EFHC1):c.618G>A (p.Lys206=)
|
rs1374718335
|
0.00002
|
|
NM_018100.4(EFHC1):c.674C>G (p.Thr225Ser)
|
rs267601073
|
0.00002
|
|
NM_018100.4(EFHC1):c.730C>T (p.Arg244Ter)
|
rs571448222
|
0.00002
|
|
NM_018100.4(EFHC1):c.757G>T (p.Asp253Tyr)
|
rs137852778
|
0.00002
|
|
NM_018100.4(EFHC1):c.76C>T (p.His26Tyr)
|
rs375322518
|
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.382C>T (p.Arg128Ter)
|
rs768188762
|
0.00002
|
|
NM_020361.5(CPA6):c.383G>A (p.Arg128Gln)
|
rs779117472
|
0.00002
|
|
NM_020361.5(CPA6):c.534+4A>G
|
rs766728291
|
0.00002
|
|
NM_020361.5(CPA6):c.544C>T (p.Arg182Ter)
|
rs773734224
|
0.00002
|
|
NM_020361.5(CPA6):c.725G>T (p.Gly242Val)
|
rs372728943
|
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.1067G>A (p.Arg356Gln)
|
rs758152252
|
0.00002
|
|
NM_020822.3(KCNT1):c.1077A>G (p.Ser359=)
|
rs777409717
|
0.00002
|
|
NM_020822.3(KCNT1):c.1103C>T (p.Ala368Val)
|
rs928555901
|
0.00002
|
|
NM_020822.3(KCNT1):c.1158C>G (p.Leu386=)
|
rs749974440
|
0.00002
|
|
NM_020822.3(KCNT1):c.1192C>T (p.Arg398Trp)
|
rs779209462
|
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.1328T>C (p.Met443Thr)
|
rs763557773
|
0.00002
|
|
NM_020822.3(KCNT1):c.1359C>T (p.Cys453=)
|
rs1455107112
|
0.00002
|
|
NM_020822.3(KCNT1):c.1465G>A (p.Val489Ile)
|
rs368322298
|
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.1663C>T (p.Arg555Cys)
|
rs774249834
|
0.00002
|
|
NM_020822.3(KCNT1):c.16G>A (p.Gly6Arg)
|
rs773874266
|
0.00002
|
|
NM_020822.3(KCNT1):c.1717C>T (p.Arg573Cys)
|
rs557219607
|
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.1838G>A (p.Arg613Gln)
|
rs571757257
|
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.1940C>T (p.Ala647Val)
|
rs550751778
|
0.00002
|
|
NM_020822.3(KCNT1):c.1947G>A (p.Ser649=)
|
rs779903423
|
0.00002
|
|
NM_020822.3(KCNT1):c.1955G>T (p.Gly652Val)
|
rs536588045
|
0.00002
|
|
NM_020822.3(KCNT1):c.2008+9G>T
|
rs375088109
|
0.00002
|
|
NM_020822.3(KCNT1):c.2044C>T (p.Arg682Trp)
|
rs750994724
|
0.00002
|
|
NM_020822.3(KCNT1):c.2071G>A (p.Gly691Arg)
|
rs769596439
|
0.00002
|
|
NM_020822.3(KCNT1):c.2104G>A (p.Gly702Ser)
|
rs550447485
|
0.00002
|
|
NM_020822.3(KCNT1):c.2199G>T (p.Glu733Asp)
|
rs772800657
|
0.00002
|
|
NM_020822.3(KCNT1):c.219G>A (p.Leu73=)
|
rs758602991
|
0.00002
|
|
NM_020822.3(KCNT1):c.2213C>T (p.Pro738Leu)
|
rs760032575
|
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.254+6G>C
|
rs923032212
|
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.3158C>A (p.Pro1053His)
|
rs776239808
|
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.3359C>T (p.Ala1120Val)
|
rs745484103
|
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.3409C>T (p.Arg1137Cys)
|
rs779430817
|
0.00002
|
|
NM_020822.3(KCNT1):c.3451G>A (p.Glu1151Lys)
|
rs767450181
|
0.00002
|
|
NM_020822.3(KCNT1):c.3488C>T (p.Pro1163Leu)
|
rs1439404936
|
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.3538G>A (p.Val1180Ile)
|
rs754383898
|
0.00002
|
|
NM_020822.3(KCNT1):c.3599G>A (p.Arg1200His)
|
rs780857518
|
0.00002
|
|
NM_020822.3(KCNT1):c.3688C>T (p.Arg1230Cys)
|
rs771068120
|
0.00002
|
|
NM_020822.3(KCNT1):c.491+3G>A
|
rs943935808
|
0.00002
|
|
NM_020822.3(KCNT1):c.626G>A (p.Arg209His)
|
rs756952430
|
0.00002
|
|
NM_020822.3(KCNT1):c.712G>A (p.Val238Ile)
|
rs760870883
|
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.250C>A (p.Pro84Thr)
|
rs755371379
|
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_021267.5(CERS1):c.443T>C (p.Ile148Thr)
|
rs773594278
|
0.00002
|
|
NM_021267.5(CERS1):c.476A>G (p.Tyr159Cys)
|
rs764228779
|
0.00002
|
|
NM_021267.5(CERS1):c.572T>C (p.Val191Ala)
|
rs749102523
|
0.00002
|
|
NM_021267.5(CERS1):c.82G>A (p.Gly28Ser)
|
rs1370577039
|
0.00002
|
|
NM_021267.5(CERS1):c.901-3C>A
|
rs1464119106
|
0.00002
|
|
NM_021267.5(CERS1):c.962G>A (p.Arg321Gln)
|
rs745387497
|
0.00002
|
|
NM_032737.4(LMNB2):c.1007G>A (p.Arg336Gln)
|
rs772252986
|
0.00002
|
|
NM_032737.4(LMNB2):c.1029C>T (p.Ala343=)
|
rs749052582
|
0.00002
|
|
NM_032737.4(LMNB2):c.1082C>T (p.Thr361Met)
|
rs148473288
|
0.00002
|
|
NM_032737.4(LMNB2):c.1096G>A (p.Val366Met)
|
rs759720954
|
0.00002
|
|
NM_032737.4(LMNB2):c.1267G>A (p.Gly423Ser)
|
rs373722325
|
0.00002
|
|
NM_032737.4(LMNB2):c.1288C>T (p.Arg430Cys)
|
rs367908162
|
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.1711-3C>T
|
rs777181580
|
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.335G>A (p.Arg112Gln)
|
rs367966814
|
0.00002
|
|
NM_032737.4(LMNB2):c.440G>A (p.Gly147Asp)
|
rs768416033
|
0.00002
|
|
NM_032737.4(LMNB2):c.443G>A (p.Arg148His)
|
rs779429811
|
0.00002
|
|
NM_032737.4(LMNB2):c.499C>G (p.Leu167Val)
|
rs1599334955
|
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.558+5G>A
|
rs747264492
|
0.00002
|
|
NM_032737.4(LMNB2):c.613C>T (p.Arg205Cys)
|
rs752321316
|
0.00002
|
|
NM_032737.4(LMNB2):c.698C>T (p.Thr233Met)
|
rs779614513
|
0.00002
|
|
NM_032737.4(LMNB2):c.712G>A (p.Glu238Lys)
|
rs773444127
|
0.00002
|
|
NM_032737.4(LMNB2):c.805G>A (p.Glu269Lys)
|
rs201457236
|
0.00002
|
|
NM_032737.4(LMNB2):c.903T>C (p.Ser301=)
|
rs1477375411
|
0.00002
|
|
NM_032737.4(LMNB2):c.910C>T (p.Arg304Cys)
|
rs140495297
|
0.00002
|
|
NM_032737.4(LMNB2):c.922A>G (p.Lys308Glu)
|
rs758385743
|
0.00002
|
|
NM_032737.4(LMNB2):c.932G>A (p.Arg311His)
|
rs1372849024
|
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.1358C>A (p.Thr453Asn)
|
rs773422113
|
0.00002
|
|
NM_153026.3(PRICKLE1):c.1359C>T (p.Thr453=)
|
rs772484365
|
0.00002
|
|
NM_153026.3(PRICKLE1):c.1360G>A (p.Glu454Lys)
|
rs748454609
|
0.00002
|
|
NM_153026.3(PRICKLE1):c.1639+4C>T
|
rs746747159
|
0.00002
|
|
NM_153026.3(PRICKLE1):c.1779G>T (p.Glu593Asp)
|
rs890912439
|
0.00002
|
|
NM_153026.3(PRICKLE1):c.178G>A (p.Val60Ile)
|
rs1359965296
|
0.00002
|
|
NM_153026.3(PRICKLE1):c.1833G>C (p.Glu611Asp)
|
rs749854195
|
0.00002
|
|
NM_153026.3(PRICKLE1):c.1978G>A (p.Val660Ile)
|
rs143947284
|
0.00002
|
|
NM_153026.3(PRICKLE1):c.2104C>T (p.Arg702Trp)
|
rs751021008
|
0.00002
|
|
NM_153026.3(PRICKLE1):c.2126A>G (p.Tyr709Cys)
|
rs750226436
|
0.00002
|
|
NM_153026.3(PRICKLE1):c.2262C>G (p.Leu754=)
|
rs727504104
|
0.00002
|
|
NM_153026.3(PRICKLE1):c.2380T>C (p.Tyr794His)
|
rs201705679
|
0.00002
|
|
NM_153026.3(PRICKLE1):c.434C>T (p.Ala145Val)
|
rs765119777
|
0.00002
|
|
NM_153026.3(PRICKLE1):c.447G>A (p.Val149=)
|
rs561240990
|
0.00002
|
|
NM_153026.3(PRICKLE1):c.626G>A (p.Arg209His)
|
rs758400992
|
0.00002
|
|
NM_153026.3(PRICKLE1):c.805G>A (p.Gly269Arg)
|
rs376845777
|
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.992G>A (p.Arg331Gln)
|
rs778192552
|
0.00002
|
|
NM_153026.3(PRICKLE1):c.99C>T (p.Tyr33=)
|
rs764986581
|
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.145-4C>T
|
rs368755155
|
0.00002
|
|
NM_153033.5(KCTD7):c.195C>T (p.Arg65=)
|
rs755849045
|
0.00002
|
|
NM_153033.5(KCTD7):c.251G>A (p.Arg84Gln)
|
rs200575329
|
0.00002
|
|
NM_153033.5(KCTD7):c.369A>C (p.Arg123=)
|
rs753658170
|
0.00002
|
|
NM_153033.5(KCTD7):c.398C>T (p.Ala133Val)
|
rs372103637
|
0.00002
|
|
NM_153033.5(KCTD7):c.439C>T (p.Leu147=)
|
rs574847246
|
0.00002
|
|
NM_153033.5(KCTD7):c.458G>A (p.Arg153His)
|
rs765235486
|
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.614C>T (p.Pro205Leu)
|
rs151338966
|
0.00002
|
|
NM_153033.5(KCTD7):c.723T>G (p.Val241=)
|
rs771832195
|
0.00002
|
|
NM_153033.5(KCTD7):c.749C>T (p.Thr250Met)
|
rs760837610
|
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.292G>A (p.Ala98Thr)
|
rs753046704
|
0.00002
|
|
NM_178013.4(PRIMA1):c.294C>T (p.Ala98=)
|
rs765912878
|
0.00002
|
|
NM_178013.4(PRIMA1):c.332T>C (p.Val111Ala)
|
rs145843133
|
0.00002
|
|
NM_178013.4(PRIMA1):c.419C>T (p.Ser140Leu)
|
rs769679879
|
0.00002
|
|
NM_178013.4(PRIMA1):c.431A>G (p.Lys144Arg)
|
rs748192131
|
0.00002
|
|
NM_198586.3(NHLRC1):c.*210T>C
|
rs1370146880
|
0.00002
|
|
NM_198586.3(NHLRC1):c.1027A>G (p.Ile343Val)
|
rs750935925
|
0.00002
|
|
NM_198586.3(NHLRC1):c.103C>G (p.His35Asp)
|
rs752045674
|
0.00002
|
|
NM_198586.3(NHLRC1):c.111G>A (p.Gln37=)
|
rs143893542
|
0.00002
|
|
NM_198586.3(NHLRC1):c.1142A>G (p.Asp381Gly)
|
rs200201752
|
0.00002
|
|
NM_198586.3(NHLRC1):c.1174G>A (p.Val392Ile)
|
rs765576968
|
0.00002
|
|
NM_198586.3(NHLRC1):c.196C>T (p.Leu66Phe)
|
rs553900705
|
0.00002
|
|
NM_198586.3(NHLRC1):c.234C>G (p.Cys78Trp)
|
rs755232826
|
0.00002
|
|
NM_198586.3(NHLRC1):c.308C>T (p.Ala103Val)
|
rs774955028
|
0.00002
|
|
NM_198586.3(NHLRC1):c.361G>A (p.Gly121Ser)
|
rs780082503
|
0.00002
|
|
NM_198586.3(NHLRC1):c.481G>A (p.Ala161Thr)
|
rs201476733
|
0.00002
|
|
NM_198586.3(NHLRC1):c.579C>T (p.Ala193=)
|
rs202217857
|
0.00002
|
|
NM_198586.3(NHLRC1):c.643T>C (p.Phe215Leu)
|
rs753591736
|
0.00002
|
|
NM_198586.3(NHLRC1):c.713C>T (p.Ser238Phe)
|
rs747276703
|
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.*2269T>C
|
rs550841859
|
0.00002
|
|
NM_198859.4(PRICKLE2):c.*3178G>C
|
rs528929996
|
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_000085.5(CLCNKB):c.226C>T (p.Arg76Ter)
|
rs370985865
|
0.00001
|
|
NM_000100.3(CSTB):c.-55G>A
|
rs533879406
|
0.00001
|
|
NM_000100.4(CSTB):c.10G>C (p.Gly4Arg)
|
rs74315443
|
0.00001
|
|
NM_000100.4(CSTB):c.10G>T (p.Gly4Trp)
|
rs74315443
|
0.00001
|
|
NM_000100.4(CSTB):c.125C>A (p.Ser42Ter)
|
rs386833439
|
0.00001
|
|
NM_000100.4(CSTB):c.135C>T (p.Ser45=)
|
rs375008755
|
0.00001
|
|
NM_000100.4(CSTB):c.136C>T (p.Gln46Ter)
|
rs545986367
|
0.00001
|
|
NM_000100.4(CSTB):c.149G>A (p.Gly50Glu)
|
rs312262708
|
0.00001
|
|
NM_000100.4(CSTB):c.155A>T (p.Asn52Ile)
|
rs541671661
|
0.00001
|
|
NM_000100.4(CSTB):c.160T>G (p.Phe54Val)
|
rs774291632
|
0.00001
|
|
NM_000100.4(CSTB):c.169-10C>G
|
rs1487271257
|
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_000100.4(CSTB):c.16C>G (p.Pro6Ala)
|
rs1236504207
|
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.184G>A (p.Glu62Lys)
|
rs147307021
|
0.00001
|
|
NM_000100.4(CSTB):c.196C>T (p.His66Tyr)
|
rs748818442
|
0.00001
|
|
NM_000100.4(CSTB):c.1_2insAT (p.Met1fs)
|
rs1044894207
|
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.268G>A (p.Ala90Thr)
|
rs761504637
|
0.00001
|
|
NM_000100.4(CSTB):c.269C>G (p.Ala90Gly)
|
rs138337167
|
0.00001
|
|
NM_000100.4(CSTB):c.274C>T (p.His92Tyr)
|
rs796052393
|
0.00001
|
|
NM_000100.4(CSTB):c.27G>C (p.Thr9=)
|
rs945357152
|
0.00001
|
|
NM_000100.4(CSTB):c.28C>G (p.Gln10Glu)
|
rs1399970116
|
0.00001
|
|
NM_000100.4(CSTB):c.290A>G (p.Tyr97Cys)
|
rs1186810947
|
0.00001
|
|
NM_000100.4(CSTB):c.85G>A (p.Glu29Lys)
|
rs1358304104
|
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.177G>A (p.Pro59=)
|
rs552093496
|
0.00001
|
|
NM_000726.5(CACNB4):c.521+9C>T
|
rs747291810
|
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.1007T>C (p.Met336Thr)
|
rs754567543
|
0.00001
|
|
NM_000742.4(CHRNA2):c.100C>G (p.Pro34Ala)
|
rs538453326
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1014C>T (p.Phe338=)
|
rs780056270
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1015G>A (p.Val339Ile)
|
rs1064797343
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1021C>G (p.Leu341Val)
|
rs750301958
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1030G>A (p.Val344Ile)
|
rs567044128
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1059C>T (p.His353=)
|
rs748482434
|
0.00001
|
|
NM_000742.4(CHRNA2):c.106G>T (p.Ala36Ser)
|
rs771977388
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1076C>T (p.Thr359Ile)
|
rs888935641
|
0.00001
|
|
NM_000742.4(CHRNA2):c.107C>T (p.Ala36Val)
|
rs1313467019
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1095G>A (p.Trp365Ter)
|
rs753568467
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1098G>A (p.Val366=)
|
rs767782606
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1103G>T (p.Gly368Val)
|
rs765772636
|
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.1151C>T (p.Pro384Leu)
|
rs777510962
|
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.1181G>A (p.Arg394His)
|
rs761054762
|
0.00001
|
|
NM_000742.4(CHRNA2):c.119C>T (p.Pro40Leu)
|
rs745670660
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1200T>G (p.Ser400=)
|
rs150333280
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1218C>G (p.Ser406Arg)
|
rs749199596
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1231G>T (p.Glu411Ter)
|
rs1328911807
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1248G>C (p.Val416=)
|
rs370878600
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1283A>C (p.His428Pro)
|
rs1464665549
|
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.1331C>G (p.Ser444Cys)
|
rs772465304
|
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.1372G>A (p.Gly458Ser)
|
rs757019076
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1373G>C (p.Gly458Ala)
|
rs751242542
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1441C>T (p.Arg481Trp)
|
rs369803320
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1460C>T (p.Ser487Phe)
|
rs994299183
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1463C>T (p.Ser488Leu)
|
rs866092045
|
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.1468A>G (p.Lys490Glu)
|
rs773515773
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1481A>G (p.Lys494Arg)
|
rs762003141
|
0.00001
|
|
NM_000742.4(CHRNA2):c.1516T>A (p.Trp506Arg)
|
rs1012797739
|
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.169G>A (p.Glu57Lys)
|
rs139552324
|
0.00001
|
|
NM_000742.4(CHRNA2):c.196C>G (p.Leu66Val)
|
rs1473197891
|
0.00001
|
|
NM_000742.4(CHRNA2):c.214C>T (p.Arg72Cys)
|
rs201890355
|
0.00001
|
|
NM_000742.4(CHRNA2):c.223C>T (p.Arg75Cys)
|
rs770949841
|
0.00001
|
|
NM_000742.4(CHRNA2):c.260G>A (p.Arg87His)
|
rs532212433
|
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.322A>G (p.Asn108Asp)
|
rs913563840
|
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.362G>T (p.Arg121Leu)
|
rs752422797
|
0.00001
|
|
NM_000742.4(CHRNA2):c.381T>C (p.Phe127=)
|
rs1346753064
|
0.00001
|
|
NM_000742.4(CHRNA2):c.385A>G (p.Asn129Asp)
|
rs1418872943
|
0.00001
|
|
NM_000742.4(CHRNA2):c.402G>C (p.Arg134Ser)
|
rs773956983
|
0.00001
|
|
NM_000742.4(CHRNA2):c.429C>T (p.Pro143=)
|
rs777692776
|
0.00001
|
|
NM_000742.4(CHRNA2):c.430G>A (p.Asp144Asn)
|
rs371067379
|
0.00001
|
|
NM_000742.4(CHRNA2):c.431A>G (p.Asp144Gly)
|
rs748032811
|
0.00001
|
|
NM_000742.4(CHRNA2):c.433A>G (p.Ile145Val)
|
rs1064795580
|
0.00001
|
|
NM_000742.4(CHRNA2):c.443A>G (p.Tyr148Cys)
|
rs758688566
|
0.00001
|
|
NM_000742.4(CHRNA2):c.449+3A>T
|
rs750588205
|
0.00001
|
|
NM_000742.4(CHRNA2):c.489C>T (p.Ala163=)
|
rs535699325
|
0.00001
|
|
NM_000742.4(CHRNA2):c.503C>T (p.Thr168Met)
|
rs766076722
|
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.577G>A (p.Asp193Asn)
|
rs373358886
|
0.00001
|
|
NM_000742.4(CHRNA2):c.593A>T (p.Lys198Met)
|
rs1488678087
|
0.00001
|
|
NM_000742.4(CHRNA2):c.595A>G (p.Met199Val)
|
rs1064793314
|
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.670G>A (p.Asp224Asn)
|
rs781326114
|
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.700G>A (p.Val234Ile)
|
rs758793756
|
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.724A>G (p.Ser242Gly)
|
rs544814869
|
0.00001
|
|
NM_000742.4(CHRNA2):c.729G>C (p.Lys243Asn)
|
rs763633128
|
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.752T>C (p.Ile251Thr)
|
rs1255648133
|
0.00001
|
|
NM_000742.4(CHRNA2):c.767C>A (p.Thr256Asn)
|
rs1586390822
|
0.00001
|
|
NM_000742.4(CHRNA2):c.772G>A (p.Ala258Thr)
|
rs200372256
|
0.00001
|
|
NM_000742.4(CHRNA2):c.787C>T (p.Arg263Trp)
|
rs376807512
|
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.810C>G (p.Ile270Met)
|
rs892421066
|
0.00001
|
|
NM_000742.4(CHRNA2):c.834C>T (p.Leu278=)
|
rs56189058
|
0.00001
|
|
NM_000742.4(CHRNA2):c.835A>G (p.Ile279Val)
|
rs1812595253
|
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.91C>T (p.Arg31Cys)
|
rs764887214
|
0.00001
|
|
NM_000742.4(CHRNA2):c.925G>A (p.Val309Ile)
|
rs755014350
|
0.00001
|
|
NM_000742.4(CHRNA2):c.957G>A (p.Pro319=)
|
rs375239013
|
0.00001
|
|
NM_000742.4(CHRNA2):c.965C>T (p.Ser322Leu)
|
rs775592017
|
0.00001
|
|
NM_000742.4(CHRNA2):c.985G>A (p.Gly329Ser)
|
rs56371471
|
0.00001
|
|
NM_000742.4(CHRNA2):c.990G>A (p.Glu330=)
|
rs769608818
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1001C>T (p.Ser334Leu)
|
rs121912262
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1007G>A (p.Arg336His)
|
rs281865068
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1010C>T (p.Thr337Met)
|
rs201673381
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1029G>C (p.Trp343Cys)
|
rs1234808455
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1034G>T (p.Arg345Leu)
|
rs200666489
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1057C>A (p.Pro353Thr)
|
rs201052218
|
0.00001
|
|
NM_000744.7(CHRNA4):c.105C>T (p.His35=)
|
rs199541666
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1060C>T (p.Arg354Cys)
|
rs758534439
|
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.1077G>C (p.Lys359Asn)
|
rs1292158071
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1105C>T (p.Arg369Trp)
|
rs201224423
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1117G>A (p.Glu373Lys)
|
rs1064794565
|
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.1184C>T (p.Thr395Met)
|
rs121912269
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1196A>G (p.Gln399Arg)
|
rs781131183
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1208C>T (p.Pro403Leu)
|
rs766143571
|
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.1249G>A (p.Glu417Lys)
|
rs369269532
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1252C>T (p.Pro418Ser)
|
rs1412148347
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1265G>A (p.Cys422Tyr)
|
rs121912273
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1273C>T (p.Pro425Ser)
|
rs764808511
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1277C>T (p.Ser426Phe)
|
rs1064794408
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1283A>T (p.Gln428Leu)
|
rs560507450
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1319C>T (p.Ala440Val)
|
rs374914461
|
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.1354C>T (p.Pro452Ser)
|
rs199914663
|
0.00001
|
|
NM_000744.7(CHRNA4):c.135C>G (p.Phe45Leu)
|
rs766240756
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1369G>C (p.Ala457Pro)
|
rs753598324
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1378C>G (p.Leu460Val)
|
rs1347805541
|
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.1432G>T (p.Val478Leu)
|
rs757163324
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1447C>T (p.Arg483Trp)
|
rs998924085
|
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.1498C>T (p.Pro500Ser)
|
rs770800835
|
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.1526C>T (p.Ala509Val)
|
rs1256537631
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1527C>T (p.Ala509=)
|
rs758693290
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1532C>T (p.Ala511Val)
|
rs368476334
|
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.158G>A (p.Arg53Gln)
|
rs1286318558
|
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.163G>A (p.Val55Met)
|
rs1349610263
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1646G>A (p.Arg549His)
|
rs768292011
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1652C>T (p.Thr551Ile)
|
rs79438238
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1658C>T (p.Ala553Val)
|
rs762808071
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1670A>C (p.His557Pro)
|
rs1282336623
|
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.1696C>T (p.Arg566Trp)
|
rs201674914
|
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.1720A>G (p.Ile574Val)
|
rs748328796
|
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.176C>T (p.Ser59Leu)
|
rs775143571
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1780G>A (p.Val594Met)
|
rs370887602
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1786A>G (p.Met596Val)
|
rs200698041
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1799G>A (p.Arg600His)
|
rs752686095
|
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.1859C>T (p.Pro620Leu)
|
rs754340834
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1860G>A (p.Pro620=)
|
rs202203317
|
0.00001
|
|
NM_000744.7(CHRNA4):c.190G>A (p.Val64Ile)
|
rs756367182
|
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.212C>T (p.Ala71Val)
|
rs753677594
|
0.00001
|
|
NM_000744.7(CHRNA4):c.226G>A (p.Val76Met)
|
rs201115841
|
0.00001
|
|
NM_000744.7(CHRNA4):c.228+12C>T
|
rs1013043290
|
0.00001
|
|
NM_000744.7(CHRNA4):c.228+6T>C
|
rs367917715
|
0.00001
|
|
NM_000744.7(CHRNA4):c.229-11C>T
|
rs200631855
|
0.00001
|
|
NM_000744.7(CHRNA4):c.229G>A (p.Asp77Asn)
|
rs1204737071
|
0.00001
|
|
NM_000744.7(CHRNA4):c.274-1G>A
|
rs1331861720
|
0.00001
|
|
NM_000744.7(CHRNA4):c.311A>C (p.Asp104Ala)
|
rs202042826
|
0.00001
|
|
NM_000744.7(CHRNA4):c.326C>T (p.Thr109Ile)
|
rs768527293
|
0.00001
|
|
NM_000744.7(CHRNA4):c.367A>G (p.Ile123Val)
|
rs1360629320
|
0.00001
|
|
NM_000744.7(CHRNA4):c.372C>T (p.Val124=)
|
rs201386851
|
0.00001
|
|
NM_000744.7(CHRNA4):c.383+1G>A
|
rs139129197
|
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.400G>A (p.Ala134Thr)
|
rs796052321
|
0.00001
|
|
NM_000744.7(CHRNA4):c.412C>T (p.Leu138=)
|
rs372063405
|
0.00001
|
|
NM_000744.7(CHRNA4):c.425A>G (p.His142Arg)
|
rs200550248
|
0.00001
|
|
NM_000744.7(CHRNA4):c.493G>A (p.Val165Ile)
|
rs762764855
|
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.663G>C (p.Arg221Ser)
|
rs1174421657
|
0.00001
|
|
NM_000744.7(CHRNA4):c.673T>G (p.Cys225Gly)
|
rs1263987235
|
0.00001
|
|
NM_000744.7(CHRNA4):c.687C>G (p.Ile229Met)
|
rs200063611
|
0.00001
|
|
NM_000744.7(CHRNA4):c.697A>G (p.Ile233Val)
|
rs1362651443
|
0.00001
|
|
NM_000744.7(CHRNA4):c.718C>T (p.Arg240Trp)
|
rs757030850
|
0.00001
|
|
NM_000744.7(CHRNA4):c.758C>T (p.Pro253Leu)
|
rs747083728
|
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.778C>A (p.Leu260Ile)
|
rs770780958
|
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.827C>T (p.Thr276Met)
|
rs796052323
|
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.859G>A (p.Val287Ile)
|
rs772253190
|
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.940A>G (p.Met314Val)
|
rs773225799
|
0.00001
|
|
NM_000744.7(CHRNA4):c.967A>G (p.Ile323Val)
|
rs200985465
|
0.00001
|
|
NM_000744.7(CHRNA4):c.972G>A (p.Thr324=)
|
rs561214079
|
0.00001
|
|
NM_000744.7(CHRNA4):c.985A>G (p.Asn329Asp)
|
rs767865433
|
0.00001
|
|
NM_000744.7(CHRNA4):c.986A>G (p.Asn329Ser)
|
rs201046441
|
0.00001
|
|
NM_000744.7(CHRNA4):c.987C>T (p.Asn329=)
|
rs572366184
|
0.00001
|
|
NM_000744.7(CHRNA4):c.988G>A (p.Val330Met)
|
rs951238893
|
0.00001
|
|
NM_000744.7(CHRNA4):c.997C>T (p.Arg333Cys)
|
rs761631713
|
0.00001
|
|
NM_000744.7(CHRNA4):c.998G>A (p.Arg333His)
|
rs1170843579
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1032C>T (p.Pro344=)
|
rs374720331
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1040T>A (p.Leu347His)
|
rs368787419
|
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.1058G>A (p.Arg353His)
|
rs200924076
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1068C>T (p.Cys356=)
|
rs762237464
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1082T>C (p.Leu361Pro)
|
rs1226774233
|
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.1115G>A (p.Gly372Asp)
|
rs757023317
|
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.1126C>T (p.Leu376Phe)
|
rs1286192889
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1136G>C (p.Arg379Pro)
|
rs1440128191
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1152C>T (p.Ala384=)
|
rs746495548
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1153G>A (p.Asp385Asn)
|
rs932622161
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1161C>A (p.Cys387Ter)
|
rs1409415937
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1167C>T (p.Cys389=)
|
rs1274247405
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1199C>A (p.Ala400Asp)
|
rs1020953003
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1201G>A (p.Gly401Arg)
|
rs902984484
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1204G>A (p.Ala402Thr)
|
rs199658508
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1207T>G (p.Phe403Val)
|
rs1166872057
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1231G>C (p.Ala411Pro)
|
rs1225745274
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1239C>T (p.Pro413=)
|
rs372757638
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1250G>A (p.Gly417Glu)
|
rs1191094208
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1253A>G (p.Glu418Gly)
|
rs1475853887
|
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.1291G>C (p.Val431Leu)
|
rs1064796396
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1295G>C (p.Arg432Pro)
|
rs747248135
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1308C>T (p.Asp436=)
|
rs1057524421
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1312A>G (p.Met438Val)
|
rs916448473
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1319G>A (p.Ser440Asn)
|
rs1187024375
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1320C>A (p.Ser440Arg)
|
rs1049048240
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1329T>C (p.Asp443=)
|
rs1451511201
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1338+3G>T
|
rs886348487
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1338C>T (p.Ser446=)
|
rs201462348
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1339-7C>T
|
rs1350349505
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1360G>A (p.Val454Ile)
|
rs765202298
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1375G>A (p.Asp459Asn)
|
rs140505576
|
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.140G>A (p.Arg47His)
|
rs769249583
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1415T>C (p.Phe472Ser)
|
rs200855905
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1423A>C (p.Ile475Leu)
|
rs202135710
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1425C>T (p.Ile475=)
|
rs773226966
|
0.00001
|
|
NM_000748.3(CHRNB2):c.1459A>G (p.Thr487Ala)
|
rs1420884732
|
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.149C>T (p.Thr50Ile)
|
rs762363770
|
0.00001
|
|
NM_000748.3(CHRNB2):c.170C>T (p.Thr57Ile)
|
rs1483069937
|
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.217C>T (p.Arg73Trp)
|
rs771286419
|
0.00001
|
|
NM_000748.3(CHRNB2):c.22G>T (p.Val8Leu)
|
rs772815972
|
0.00001
|
|
NM_000748.3(CHRNB2):c.255+15T>G
|
rs374367624
|
0.00001
|
|
NM_000748.3(CHRNB2):c.255+6C>T
|
rs754415116
|
0.00001
|
|
NM_000748.3(CHRNB2):c.270T>C (p.Tyr90=)
|
rs751365875
|
0.00001
|
|
NM_000748.3(CHRNB2):c.271C>T (p.Arg91Cys)
|
rs754725293
|
0.00001
|
|
NM_000748.3(CHRNB2):c.277A>T (p.Thr93Ser)
|
rs752355994
|
0.00001
|
|
NM_000748.3(CHRNB2):c.294G>A (p.Glu98=)
|
rs367899705
|
0.00001
|
|
NM_000748.3(CHRNB2):c.317G>A (p.Arg106Gln)
|
rs779199533
|
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.366-3C>T
|
rs1382302930
|
0.00001
|
|
NM_000748.3(CHRNB2):c.373G>A (p.Gly125Ser)
|
rs922186544
|
0.00001
|
|
NM_000748.3(CHRNB2):c.405C>T (p.Ala135=)
|
rs777250519
|
0.00001
|
|
NM_000748.3(CHRNB2):c.406G>A (p.Val136Met)
|
rs763776515
|
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.515A>G (p.Lys172Arg)
|
rs1330894666
|
0.00001
|
|
NM_000748.3(CHRNB2):c.539G>A (p.Arg180His)
|
rs768297928
|
0.00001
|
|
NM_000748.3(CHRNB2):c.546G>T (p.Glu182Asp)
|
rs199696100
|
0.00001
|
|
NM_000748.3(CHRNB2):c.604G>A (p.Glu202Lys)
|
rs1260932072
|
0.00001
|
|
NM_000748.3(CHRNB2):c.615C>T (p.Ile205=)
|
rs202243284
|
0.00001
|
|
NM_000748.3(CHRNB2):c.620C>T (p.Ala207Val)
|
rs201622476
|
0.00001
|
|
NM_000748.3(CHRNB2):c.627G>A (p.Pro209=)
|
rs752968150
|
0.00001
|
|
NM_000748.3(CHRNB2):c.634C>T (p.Arg212Cys)
|
rs572595325
|
0.00001
|
|
NM_000748.3(CHRNB2):c.639C>T (p.Asn213=)
|
rs772174020
|
0.00001
|
|
NM_000748.3(CHRNB2):c.646C>T (p.Pro216Ser)
|
rs200796605
|
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.658A>C (p.Thr220Pro)
|
rs374183227
|
0.00001
|
|
NM_000748.3(CHRNB2):c.659C>T (p.Thr220Met)
|
rs796052326
|
0.00001
|
|
NM_000748.3(CHRNB2):c.669C>T (p.Asp223=)
|
rs1557851605
|
0.00001
|
|
NM_000748.3(CHRNB2):c.691C>T (p.Arg231Cys)
|
rs752986234
|
0.00001
|
|
NM_000748.3(CHRNB2):c.694C>T (p.Arg232Cys)
|
rs756406057
|
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.772C>T (p.Leu258=)
|
rs201514209
|
0.00001
|
|
NM_000748.3(CHRNB2):c.788G>A (p.Gly263Asp)
|
rs373676452
|
0.00001
|
|
NM_000748.3(CHRNB2):c.794A>T (p.Lys265Met)
|
rs1696166155
|
0.00001
|
|
NM_000748.3(CHRNB2):c.797T>C (p.Met266Thr)
|
rs113672425
|
0.00001
|
|
NM_000748.3(CHRNB2):c.88G>A (p.Glu30Lys)
|
rs199919525
|
0.00001
|
|
NM_000748.3(CHRNB2):c.892G>A (p.Gly298Ser)
|
rs754992449
|
0.00001
|
|
NM_000748.3(CHRNB2):c.910A>G (p.Thr304Ala)
|
rs780962241
|
0.00001
|
|
NM_000748.3(CHRNB2):c.92G>A (p.Arg31Gln)
|
rs758492974
|
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.968A>G (p.His323Arg)
|
rs201004255
|
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.1032G>A (p.Leu344=)
|
rs745938544
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1039C>T (p.Pro347Ser)
|
rs765599501
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1073C>T (p.Ser358Phe)
|
rs1039004556
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1090G>A (p.Val364Ile)
|
rs769246932
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1100A>G (p.Lys367Arg)
|
rs776081581
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1112C>T (p.Pro371Leu)
|
rs747324879
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1128A>G (p.Glu376=)
|
rs779153012
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1150G>A (p.Ala384Thr)
|
rs751307143
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1162-19C>T
|
rs973832371
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1165C>A (p.Gln389Lys)
|
rs1331117963
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1170C>T (p.Leu390=)
|
rs752646070
|
0.00001
|
|
NM_001077350.3(NPRL3):c.117A>G (p.Thr39=)
|
rs764156867
|
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.118A>G (p.Ser40Gly)
|
rs1901205892
|
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.1198C>T (p.Arg400Cys)
|
rs556683821
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1201C>T (p.Arg401Trp)
|
rs375530015
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1204C>T (p.Leu402Phe)
|
rs899497821
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1215G>C (p.Gln405His)
|
rs1426917813
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1243T>C (p.Ser415Pro)
|
rs546525405
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1247C>T (p.Pro416Leu)
|
rs746082270
|
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.1270C>T (p.Arg424Ter)
|
rs886037961
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1279G>A (p.Asp427Asn)
|
rs769778379
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1313G>A (p.Ser438Asn)
|
rs529009740
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1315C>T (p.Leu439Phe)
|
rs763320453
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1324C>T (p.Pro442Ser)
|
rs868572770
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1348C>T (p.Pro450Ser)
|
rs941137627
|
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.139G>A (p.Ala47Thr)
|
rs1401901852
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1427C>T (p.Ser476Leu)
|
rs750482582
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1428G>A (p.Ser476=)
|
rs370803087
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1443G>T (p.Arg481Ser)
|
rs1898620865
|
0.00001
|
|
NM_001077350.3(NPRL3):c.147C>T (p.Ser49=)
|
rs1157537547
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1483C>T (p.Arg495Cys)
|
rs756589112
|
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.1507G>A (p.Ala503Thr)
|
rs372717858
|
0.00001
|
|
NM_001077350.3(NPRL3):c.152C>T (p.Thr51Met)
|
rs777208794
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1532G>A (p.Arg511His)
|
rs375305549
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1534A>G (p.Met512Val)
|
rs768263296
|
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.1561C>T (p.Arg521Cys)
|
rs1305476231
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1563C>T (p.Arg521=)
|
rs1369887915
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1564G>A (p.Gly522Ser)
|
rs752985390
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1595A>G (p.Asn532Ser)
|
rs371517875
|
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.164C>G (p.Ala55Gly)
|
rs1217583836
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1669G>A (p.Glu557Lys)
|
rs764005661
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1677T>C (p.Pro559=)
|
rs1216277325
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1687G>A (p.Val563Ile)
|
rs764756422
|
0.00001
|
|
NM_001077350.3(NPRL3):c.177C>T (p.Asp59=)
|
rs1048069050
|
0.00001
|
|
NM_001077350.3(NPRL3):c.17G>A (p.Ser6Asn)
|
rs1901212695
|
0.00001
|
|
NM_001077350.3(NPRL3):c.198T>C (p.Asp66=)
|
rs1900183713
|
0.00001
|
|
NM_001077350.3(NPRL3):c.20C>T (p.Pro7Leu)
|
rs770799124
|
0.00001
|
|
NM_001077350.3(NPRL3):c.217T>G (p.Leu73Val)
|
rs1900182866
|
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.341C>T (p.Pro114Leu)
|
rs979345384
|
0.00001
|
|
NM_001077350.3(NPRL3):c.342G>A (p.Pro114=)
|
rs368936546
|
0.00001
|
|
NM_001077350.3(NPRL3):c.400G>A (p.Ala134Thr)
|
rs779581743
|
0.00001
|
|
NM_001077350.3(NPRL3):c.407C>T (p.Pro136Leu)
|
rs547462000
|
0.00001
|
|
NM_001077350.3(NPRL3):c.411A>G (p.Ser137=)
|
rs752160458
|
0.00001
|
|
NM_001077350.3(NPRL3):c.454G>A (p.Val152Met)
|
rs539649449
|
0.00001
|
|
NM_001077350.3(NPRL3):c.473G>A (p.Arg158His)
|
rs1215682749
|
0.00001
|
|
NM_001077350.3(NPRL3):c.475C>T (p.Arg159Cys)
|
rs769300436
|
0.00001
|
|
NM_001077350.3(NPRL3):c.476G>A (p.Arg159His)
|
rs370299128
|
0.00001
|
|
NM_001077350.3(NPRL3):c.52A>C (p.Arg18=)
|
rs1218964632
|
0.00001
|
|
NM_001077350.3(NPRL3):c.535G>A (p.Ala179Thr)
|
rs755120736
|
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.638C>T (p.Thr213Met)
|
rs776199294
|
0.00001
|
|
NM_001077350.3(NPRL3):c.642G>A (p.Ser214=)
|
rs368182847
|
0.00001
|
|
NM_001077350.3(NPRL3):c.713C>T (p.Ala238Val)
|
rs761366554
|
0.00001
|
|
NM_001077350.3(NPRL3):c.714G>A (p.Ala238=)
|
rs751260495
|
0.00001
|
|
NM_001077350.3(NPRL3):c.722G>C (p.Ser241Thr)
|
rs1899228613
|
0.00001
|
|
NM_001077350.3(NPRL3):c.732C>T (p.Pro244=)
|
rs1196165192
|
0.00001
|
|
NM_001077350.3(NPRL3):c.734C>A (p.Pro245Gln)
|
rs763479734
|
0.00001
|
|
NM_001077350.3(NPRL3):c.748C>T (p.Arg250Trp)
|
rs577935445
|
0.00001
|
|
NM_001077350.3(NPRL3):c.752G>A (p.Ser251Asn)
|
rs916257624
|
0.00001
|
|
NM_001077350.3(NPRL3):c.756G>A (p.Leu252=)
|
rs554325689
|
0.00001
|
|
NM_001077350.3(NPRL3):c.811C>G (p.Leu271Val)
|
rs984688777
|
0.00001
|
|
NM_001077350.3(NPRL3):c.826A>G (p.Ile276Val)
|
rs764890667
|
0.00001
|
|
NM_001077350.3(NPRL3):c.85C>A (p.Gln29Lys)
|
rs1021394339
|
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.1024C>A (p.Pro342Thr)
|
rs552217106
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1035G>A (p.Lys345=)
|
rs1192208565
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1055C>A (p.Pro352Gln)
|
rs1332727339
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1077C>T (p.Gly359=)
|
rs746862284
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1087G>C (p.Gly363Arg)
|
rs1220553796
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1098G>A (p.Glu366=)
|
rs1222924303
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1135G>A (p.Gly379Ser)
|
rs1738596858
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1147C>T (p.Arg383Cys)
|
rs775117967
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1164G>C (p.Glu388Asp)
|
rs1402048793
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1175C>G (p.Ala392Gly)
|
rs1320384072
|
0.00001
|
|
NM_001099403.2(PRDM8):c.118A>G (p.Ile40Val)
|
rs772463473
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1215C>T (p.Asp405=)
|
rs1560478454
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1246G>A (p.Ala416Thr)
|
rs568061115
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1275C>T (p.Pro425=)
|
rs1738619872
|
0.00001
|
|
NM_001099403.2(PRDM8):c.127C>T (p.Pro43Ser)
|
rs765881338
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1283C>T (p.Ala428Val)
|
rs1185570106
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1306C>T (p.Leu436=)
|
rs1321681007
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1324G>A (p.Gly442Arg)
|
rs1393840872
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1350G>A (p.Glu450=)
|
rs1578265647
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1357A>G (p.Ser453Gly)
|
rs907653529
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1396C>T (p.Leu466=)
|
rs1738640851
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1400G>A (p.Gly467Asp)
|
rs1185771802
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1405G>A (p.Ala469Thr)
|
rs1738641895
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1426G>A (p.Gly476Ser)
|
rs1157815573
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1434G>C (p.Thr478=)
|
rs1199927860
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1453G>T (p.Gly485Cys)
|
rs1024569997
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1465G>A (p.Gly489Ser)
|
rs1310667127
|
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.1553A>G (p.Gln518Arg)
|
rs1319969823
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1585G>T (p.Ala529Ser)
|
rs1254406151
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1590C>G (p.Asp530Glu)
|
rs763088636
|
0.00001
|
|
NM_001099403.2(PRDM8):c.159C>T (p.Asp53=)
|
rs1262983903
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1624G>T (p.Ala542Ser)
|
rs866553864
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1637C>T (p.Ala546Val)
|
rs781679159
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1643A>G (p.Lys548Arg)
|
rs1320311514
|
0.00001
|
|
NM_001099403.2(PRDM8):c.164T>A (p.Ile55Lys)
|
rs762557383
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1650G>C (p.Gln550His)
|
rs776091682
|
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.1795G>A (p.Gly599Arg)
|
rs1222858653
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1807C>A (p.Leu603Met)
|
rs1045840735
|
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.1832T>C (p.Leu611Pro)
|
rs1317721429
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1892A>G (p.Asn631Ser)
|
rs763030062
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1929T>C (p.His643=)
|
rs761518640
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1955A>G (p.Tyr652Cys)
|
rs758969495
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1956T>C (p.Tyr652=)
|
rs374015672
|
0.00001
|
|
NM_001099403.2(PRDM8):c.1966C>T (p.Pro656Ser)
|
rs200471159
|
0.00001
|
|
NM_001099403.2(PRDM8):c.2043C>T (p.Leu681=)
|
rs758880510
|
0.00001
|
|
NM_001099403.2(PRDM8):c.209A>G (p.Tyr70Cys)
|
rs1272386839
|
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.232G>A (p.Ala78Thr)
|
rs974078652
|
0.00001
|
|
NM_001099403.2(PRDM8):c.260T>C (p.Met87Thr)
|
rs1214957885
|
0.00001
|
|
NM_001099403.2(PRDM8):c.296A>G (p.Glu99Gly)
|
rs943924560
|
0.00001
|
|
NM_001099403.2(PRDM8):c.369C>T (p.Asp123=)
|
rs754992126
|
0.00001
|
|
NM_001099403.2(PRDM8):c.404C>T (p.Thr135Ile)
|
rs746198786
|
0.00001
|
|
NM_001099403.2(PRDM8):c.40G>A (p.Asp14Asn)
|
rs1274150288
|
0.00001
|
|
NM_001099403.2(PRDM8):c.428C>T (p.Ser143Phe)
|
rs1319426778
|
0.00001
|
|
NM_001099403.2(PRDM8):c.488G>A (p.Arg163His)
|
rs1191039908
|
0.00001
|
|
NM_001099403.2(PRDM8):c.514G>A (p.Ala172Thr)
|
rs762974864
|
0.00001
|
|
NM_001099403.2(PRDM8):c.543A>T (p.Arg181Ser)
|
rs377755509
|
0.00001
|
|
NM_001099403.2(PRDM8):c.618C>G (p.Gly206=)
|
rs370541374
|
0.00001
|
|
NM_001099403.2(PRDM8):c.636G>C (p.Gln212His)
|
rs767033532
|
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.689C>G (p.Ala230Gly)
|
rs1022510998
|
0.00001
|
|
NM_001099403.2(PRDM8):c.68C>A (p.Thr23Lys)
|
rs752328279
|
0.00001
|
|
NM_001099403.2(PRDM8):c.742G>A (p.Ala248Thr)
|
rs750455114
|
0.00001
|
|
NM_001099403.2(PRDM8):c.814C>T (p.Arg272Trp)
|
rs202018297
|
0.00001
|
|
NM_001099403.2(PRDM8):c.838G>A (p.Ala280Thr)
|
rs1738548476
|
0.00001
|
|
NM_001099403.2(PRDM8):c.845G>C (p.Ser282Thr)
|
rs1296298879
|
0.00001
|
|
NM_001099403.2(PRDM8):c.847C>A (p.Leu283Ile)
|
rs1211529205
|
0.00001
|
|
NM_001099403.2(PRDM8):c.861C>G (p.Ser287Arg)
|
rs768031665
|
0.00001
|
|
NM_001099403.2(PRDM8):c.862G>A (p.Gly288Ser)
|
rs930461579
|
0.00001
|
|
NM_001099403.2(PRDM8):c.868G>A (p.Gly290Ser)
|
rs756736858
|
0.00001
|
|
NM_001099403.2(PRDM8):c.919A>G (p.Thr307Ala)
|
rs1487456427
|
0.00001
|
|
NM_001099403.2(PRDM8):c.935G>A (p.Gly312Glu)
|
rs201579839
|
0.00001
|
|
NM_001099403.2(PRDM8):c.940A>T (p.Arg314Trp)
|
rs769365726
|
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_001099403.2(PRDM8):c.983G>C (p.Gly328Ala)
|
rs1440891569
|
0.00001
|
|
NM_001099403.2(PRDM8):c.992G>A (p.Gly331Glu)
|
rs1177151496
|
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.121G>A (p.Asp41Asn)
|
rs1192156090
|
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.131G>A (p.Ser44Asn)
|
rs773455390
|
0.00001
|
|
NM_001112741.2(KCNC1):c.1391C>T (p.Pro464Leu)
|
rs899899700
|
0.00001
|
|
NM_001112741.2(KCNC1):c.1409A>G (p.Asn470Ser)
|
rs143588903
|
0.00001
|
|
NM_001112741.2(KCNC1):c.1439A>G (p.His480Arg)
|
rs1409273169
|
0.00001
|
|
NM_001112741.2(KCNC1):c.1451A>G (p.Gln484Arg)
|
rs770586397
|
0.00001
|
|
NM_001112741.2(KCNC1):c.148C>T (p.Pro50Ser)
|
rs763076681
|
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.1538C>T (p.Ala513Val)
|
rs1485166517
|
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.1549G>A (p.Glu517Lys)
|
rs1243389624
|
0.00001
|
|
NM_001112741.2(KCNC1):c.1564A>G (p.Ile522Val)
|
rs920182710
|
0.00001
|
|
NM_001112741.2(KCNC1):c.159C>A (p.Asp53Glu)
|
rs1393327105
|
0.00001
|
|
NM_001112741.2(KCNC1):c.1606C>T (p.Arg536Cys)
|
rs370730720
|
0.00001
|
|
NM_001112741.2(KCNC1):c.1607G>A (p.Arg536His)
|
rs1442404828
|
0.00001
|
|
NM_001112741.2(KCNC1):c.1621G>A (p.Glu541Lys)
|
rs896883949
|
0.00001
|
|
NM_001112741.2(KCNC1):c.1627T>C (p.Tyr543His)
|
rs775725087
|
0.00001
|
|
NM_001112741.2(KCNC1):c.1663G>A (p.Ala555Thr)
|
rs1237851177
|
0.00001
|
|
NM_001112741.2(KCNC1):c.1664C>T (p.Ala555Val)
|
rs1006803225
|
0.00001
|
|
NM_001112741.2(KCNC1):c.1669C>T (p.Pro557Ser)
|
rs773372284
|
0.00001
|
|
NM_001112741.2(KCNC1):c.1729A>C (p.Met577Leu)
|
rs755441537
|
0.00001
|
|
NM_001112741.2(KCNC1):c.1739A>G (p.Glu580Gly)
|
rs1284857169
|
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.394G>A (p.Asp132Asn)
|
rs770445113
|
0.00001
|
|
NM_001112741.2(KCNC1):c.492G>A (p.Arg164=)
|
rs200097310
|
0.00001
|
|
NM_001112741.2(KCNC1):c.494C>T (p.Pro165Leu)
|
rs749790557
|
0.00001
|
|
NM_001112741.2(KCNC1):c.511C>T (p.Arg171Cys)
|
rs1286632713
|
0.00001
|
|
NM_001112741.2(KCNC1):c.523C>T (p.Arg175Cys)
|
rs1197911307
|
0.00001
|
|
NM_001112741.2(KCNC1):c.571-9T>A
|
rs1163443609
|
0.00001
|
|
NM_001112741.2(KCNC1):c.582C>T (p.Phe194=)
|
rs752386683
|
0.00001
|
|
NM_001112741.2(KCNC1):c.654C>A (p.Ile218=)
|
rs747207268
|
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.667G>A (p.Glu223Lys)
|
rs1849232122
|
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.701G>A (p.Arg234His)
|
rs763794003
|
0.00001
|
|
NM_001112741.2(KCNC1):c.710G>A (p.Arg237Gln)
|
rs200015927
|
0.00001
|
|
NM_001112741.2(KCNC1):c.723G>A (p.Thr241=)
|
rs780073632
|
0.00001
|
|
NM_001112741.2(KCNC1):c.751G>A (p.Val251Ile)
|
rs1465921956
|
0.00001
|
|
NM_001112741.2(KCNC1):c.774C>T (p.Phe258=)
|
rs759363166
|
0.00001
|
|
NM_001112741.2(KCNC1):c.806A>G (p.Asn269Ser)
|
rs368573465
|
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.889G>A (p.Gly297Ser)
|
rs781542866
|
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.1033A>G (p.Asn345Asp)
|
rs200482511
|
0.00001
|
|
NM_001122752.2(SERPINI1):c.107G>A (p.Arg36His)
|
rs780236670
|
0.00001
|
|
NM_001122752.2(SERPINI1):c.1117G>A (p.Asp373Asn)
|
rs767865960
|
0.00001
|
|
NM_001122752.2(SERPINI1):c.115G>A (p.Ala39Thr)
|
rs1307825318
|
0.00001
|
|
NM_001122752.2(SERPINI1):c.1186C>T (p.His396Tyr)
|
rs750646140
|
0.00001
|
|
NM_001122752.2(SERPINI1):c.133A>G (p.Asn45Asp)
|
rs769089864
|
0.00001
|
|
NM_001122752.2(SERPINI1):c.144C>A (p.Phe48Leu)
|
rs776746623
|
0.00001
|
|
NM_001122752.2(SERPINI1):c.147T>C (p.Ser49=)
|
rs1450628576
|
0.00001
|
|
NM_001122752.2(SERPINI1):c.166G>T (p.Ala56Ser)
|
rs1050971384
|
0.00001
|
|
NM_001122752.2(SERPINI1):c.198A>G (p.Gly66=)
|
rs1288169432
|
0.00001
|
|
NM_001122752.2(SERPINI1):c.20T>C (p.Phe7Ser)
|
rs191197474
|
0.00001
|
|
NM_001122752.2(SERPINI1):c.250+5G>A
|
rs1447537890
|
0.00001
|
|
NM_001122752.2(SERPINI1):c.251-18T>C
|
rs565445764
|
0.00001
|
|
NM_001122752.2(SERPINI1):c.302A>T (p.Glu101Val)
|
rs749315755
|
0.00001
|
|
NM_001122752.2(SERPINI1):c.306C>T (p.Ser102=)
|
rs1727464431
|
0.00001
|
|
NM_001122752.2(SERPINI1):c.317T>A (p.Met106Lys)
|
rs768598501
|
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.481+4T>C
|
rs1191891165
|
0.00001
|
|
NM_001122752.2(SERPINI1):c.482-5A>G
|
rs1382961035
|
0.00001
|
|
NM_001122752.2(SERPINI1):c.48T>A (p.Ala16=)
|
rs138644986
|
0.00001
|
|
NM_001122752.2(SERPINI1):c.526A>G (p.Thr176Ala)
|
rs762427588
|
0.00001
|
|
NM_001122752.2(SERPINI1):c.575C>T (p.Ser192Leu)
|
rs777452195
|
0.00001
|
|
NM_001122752.2(SERPINI1):c.582T>C (p.Phe194=)
|
rs370446701
|
0.00001
|
|
NM_001122752.2(SERPINI1):c.596C>T (p.Thr199Ile)
|
rs61761892
|
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.694T>G (p.Ser232Ala)
|
rs749782862
|
0.00001
|
|
NM_001122752.2(SERPINI1):c.703G>T (p.Ala235Ser)
|
rs774334657
|
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.778C>A (p.Gln260Lys)
|
rs780784169
|
0.00001
|
|
NM_001122752.2(SERPINI1):c.796A>G (p.Thr266Ala)
|
rs1210708843
|
0.00001
|
|
NM_001122752.2(SERPINI1):c.817G>A (p.Ala273Thr)
|
rs778331359
|
0.00001
|
|
NM_001122752.2(SERPINI1):c.841A>C (p.Asn281His)
|
rs151212615
|
0.00001
|
|
NM_001122752.2(SERPINI1):c.854A>C (p.Lys285Thr)
|
rs772141992
|
0.00001
|
|
NM_001122752.2(SERPINI1):c.862G>A (p.Val288Ile)
|
rs760906938
|
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_001122752.2(SERPINI1):c.914A>T (p.Asp305Val)
|
rs756818970
|
0.00001
|
|
NM_001122752.2(SERPINI1):c.965T>G (p.Leu322Trp)
|
rs1271122328
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3133C>T (p.Arg1045Trp)
|
rs794727356
|
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.*722G>A
|
rs569360567
|
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.1007+6A>G
|
rs1427858640
|
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.1019A>G (p.Asn340Ser)
|
rs1040519934
|
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.1123G>A (p.Val375Met)
|
rs746834456
|
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.1223T>C (p.Ile408Thr)
|
rs1431001691
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.1233G>T (p.Leu411=)
|
rs768782812
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.1249G>A (p.Val417Ile)
|
rs749504561
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.1265T>C (p.Ile422Thr)
|
rs372628324
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.1279G>C (p.Glu427Gln)
|
rs560839364
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.1284G>A (p.Thr428=)
|
rs147211564
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.1295A>G (p.Asn432Ser)
|
rs1390579090
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.1310G>A (p.Arg437Gln)
|
rs770071260
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.1329-11T>C
|
rs1400943927
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.1329-9T>G
|
rs541442732
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.1331A>G (p.Asn444Ser)
|
rs747167014
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.1340A>T (p.Asn447Ile)
|
rs367543145
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.1341T>A (p.Asn447Lys)
|
rs779989663
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.1343A>G (p.Glu448Gly)
|
rs1273711716
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.1345G>T (p.Gly449Trp)
|
rs1218196720
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.1348A>T (p.Met450Leu)
|
rs2042669462
|
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.1675G>A (p.Val559Met)
|
rs1476673300
|
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.1738A>G (p.Ser580Gly)
|
rs777029084
|
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.1770A>C (p.Lys590Asn)
|
rs563779542
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.1783_1784del (p.His595fs)
|
rs779219028
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.1812T>A (p.Ala604=)
|
rs760972725
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.1815A>G (p.Ile605Met)
|
rs986690961
|
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.2289T>G (p.Ile763Met)
|
rs1903130042
|
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.2497A>G (p.Ile833Val)
|
rs774656858
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.2505C>T (p.Phe835=)
|
rs771342023
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.2518C>T (p.Leu840Phe)
|
rs371352783
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.2552G>C (p.Gly851Ala)
|
rs1447076076
|
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+14G>A
|
rs1279723520
|
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.2647C>G (p.Pro883Ala)
|
rs770982536
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.2681T>A (p.Met894Lys)
|
rs775144380
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.268A>C (p.Met90Leu)
|
rs2050232660
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.269T>C (p.Met90Thr)
|
rs933535128
|
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.280C>T (p.Arg94Cys)
|
rs1282664179
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.2833G>A (p.Asp945Asn)
|
rs1305013569
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.2859G>C (p.Glu953Asp)
|
rs749810424
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.285C>T (p.Ile95=)
|
rs756116240
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.2877C>G (p.Asn959Lys)
|
rs756576680
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.2927A>G (p.Asn976Ser)
|
rs886039239
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.2985G>A (p.Thr995=)
|
rs781646325
|
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.3118G>A (p.Glu1040Lys)
|
rs778490114
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.3123T>C (p.Asn1041=)
|
rs574425467
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.3144C>A (p.Ser1048Arg)
|
rs1900774977
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.3163G>C (p.Glu1055Gln)
|
rs370107080
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.3191C>T (p.Thr1064Met)
|
rs756930722
|
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.3341G>C (p.Arg1114Thr)
|
rs1555482504
|
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.3373G>A (p.Glu1125Lys)
|
rs1200593226
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.3393T>G (p.Asp1131Glu)
|
rs1900748818
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.3398C>G (p.Pro1133Arg)
|
rs1311723266
|
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.3433G>A (p.Val1145Met)
|
rs779746293
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.3441C>T (p.Phe1147=)
|
rs1455176676
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.3455A>C (p.Gln1152Pro)
|
rs1268024101
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.3518A>G (p.His1173Arg)
|
rs199975988
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.3522T>A (p.Asn1174Lys)
|
rs772104446
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.3530G>A (p.Gly1177Glu)
|
rs745723771
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.3561C>T (p.Tyr1187=)
|
rs750802726
|
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.3678C>T (p.Gly1226=)
|
rs749144109
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.3708C>T (p.Cys1236=)
|
rs780909404
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.3722G>A (p.Arg1241Gln)
|
rs886042648
|
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.3834A>G (p.Gln1278=)
|
rs145833287
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.3863G>A (p.Arg1288His)
|
rs778951185
|
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.3993C>A (p.Val1331=)
|
rs886052554
|
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.4126C>A (p.Arg1376Ser)
|
rs1426934537
|
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.4184C>T (p.Ala1395Val)
|
rs199696775
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.418C>G (p.Pro140Ala)
|
rs776317814
|
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.4310A>G (p.Asn1437Ser)
|
rs1427097667
|
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.50T>C (p.Val17Ala)
|
rs2050242755
|
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.62C>T (p.Pro21Leu)
|
rs749314552
|
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.810A>G (p.Lys270=)
|
rs367543122
|
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.869C>T (p.Ala290Val)
|
rs199528312
|
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.*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.1014C>T (p.Thr338=)
|
rs746250658
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.1131+13C>A
|
rs886047268
|
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.1301A>G (p.Asp434Gly)
|
rs137853333
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.1305C>T (p.Asp435=)
|
rs201999021
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.1321G>A (p.Val441Ile)
|
rs756023062
|
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.140C>T (p.Ser47Phe)
|
rs907549386
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.1413C>A (p.Leu471=)
|
rs903717178
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.1442T>C (p.Ile481Thr)
|
rs199570223
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.1486G>A (p.Ala496Thr)
|
rs202213336
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.1523+9T>G
|
rs539064392
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.1534A>G (p.Ile512Val)
|
rs781682363
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.1594-6C>A
|
rs1373150494
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.15C>T (p.Gly5=)
|
rs1273640267
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.1632A>C (p.Glu544Asp)
|
rs143385319
|
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.1749+5C>T
|
rs868280659
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.1764A>G (p.Thr588=)
|
rs145660886
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.1822A>G (p.Ser608Gly)
|
rs760442123
|
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.187G>C (p.Glu63Gln)
|
rs749265202
|
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.1967A>C (p.Glu656Ala)
|
rs917980352
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.1990G>A (p.Ala664Thr)
|
rs2092521373
|
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.2282C>T (p.Pro761Leu)
|
rs771363378
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.2306A>C (p.Lys769Thr)
|
rs2075559827
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.2313G>A (p.Arg771=)
|
rs566306042
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.2345C>T (p.Ser782Leu)
|
rs145067821
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.2350A>G (p.Lys784Glu)
|
rs751919609
|
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.2404A>G (p.Met802Val)
|
rs200544842
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.2414A>G (p.Asn805Ser)
|
rs1211672809
|
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.2660A>G (p.Lys887Arg)
|
rs753684298
|
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.2806A>G (p.Thr936Ala)
|
rs201167566
|
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.2981C>T (p.Thr994Ile)
|
rs768061213
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.3118G>A (p.Val1040Ile)
|
rs201534741
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.3129G>A (p.Leu1043=)
|
rs751861895
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.3145G>A (p.Ala1049Thr)
|
rs199586877
|
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.3147+3G>A
|
rs1371574005
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.3147+6T>C
|
rs558650814
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.3148-6C>T
|
rs201087232
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.3148A>G (p.Thr1050Ala)
|
rs2040120292
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.3166A>G (p.Ile1056Val)
|
rs1005340112
|
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.3281A>G (p.Asn1094Ser)
|
rs1395464276
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.3297C>T (p.Arg1099=)
|
rs372103668
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.3319G>A (p.Asp1107Asn)
|
rs1314238418
|
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.340C>A (p.Leu114Met)
|
rs780623276
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.3416G>A (p.Arg1139Gln)
|
rs1397556923
|
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.3493G>C (p.Glu1165Gln)
|
rs757053731
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.3504G>A (p.Pro1168=)
|
rs200945011
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.3506C>T (p.Thr1169Met)
|
rs200284976
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.3556C>T (p.Arg1186Trp)
|
rs747029218
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.3557G>A (p.Arg1186Gln)
|
rs200141207
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.3578C>T (p.Ser1193Phe)
|
rs777595748
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.3584C>T (p.Ser1195Leu)
|
rs202024249
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.3588G>A (p.Ser1196=)
|
rs75138661
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.3598A>G (p.Ser1200Gly)
|
rs985517880
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.3644G>A (p.Arg1215Gln)
|
rs760806787
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.364G>A (p.Gly122Arg)
|
rs1167824169
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.3653G>A (p.Arg1218Gln)
|
rs200723995
|
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.3670T>C (p.Ser1224Pro)
|
rs1370349180
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.3681A>G (p.Lys1227=)
|
rs150023686
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.3703C>T (p.Arg1235Trp)
|
rs139370249
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.375G>A (p.Thr125=)
|
rs1349036007
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.378+503T>C
|
rs200150931
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.378+7C>T
|
rs754351803
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.385C>G (p.Gln129Glu)
|
rs377430922
|
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.422C>T (p.Thr141Ile)
|
rs1002138627
|
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.4G>A (p.Ala2Thr)
|
rs1344908173
|
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.59G>A (p.Gly20Asp)
|
rs888320237
|
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.632A>G (p.Lys211Arg)
|
rs771113362
|
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.667G>A (p.Val223Met)
|
rs779829350
|
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.70_73del (p.Leu23_Arg24insTer)
|
rs2093893902
|
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_001161352.2(KCNMA1):c.96C>G (p.Asn32Lys)
|
rs749212119
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.-57G>C
|
rs1383795440
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1010C>T (p.Thr337Met)
|
rs1037878155
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1011G>A (p.Thr337=)
|
rs1396374516
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1015G>A (p.Gly339Arg)
|
rs761634410
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1040G>A (p.Arg347His)
|
rs760668998
|
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.1261C>G (p.Pro421Ala)
|
rs764297665
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1265G>A (p.Arg422Gln)
|
rs886039277
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1272A>T (p.Lys424Asn)
|
rs1406415856
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1273C>G (p.Leu425Val)
|
rs2087513191
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1287+3A>G
|
rs750267006
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1315C>T (p.Arg439Cys)
|
rs777306555
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1325-10T>C
|
rs752612331
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1339A>G (p.Lys447Glu)
|
rs756972161
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1359T>A (p.Leu453=)
|
rs748674047
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1381G>A (p.Ala461Thr)
|
rs771161131
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1385A>G (p.Tyr462Cys)
|
rs747546981
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.138T>A (p.Asp46Glu)
|
rs535630975
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1393C>G (p.Gln465Glu)
|
rs886039260
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1410C>T (p.Pro470=)
|
rs751143978
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1421G>A (p.Arg474Gln)
|
rs1349979537
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1454G>A (p.Arg485Gln)
|
rs886039278
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1458G>A (p.Glu486=)
|
rs1458605715
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1459C>T (p.Arg487Ter)
|
rs587777459
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1460G>A (p.Arg487Gln)
|
rs775080915
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1489T>C (p.Ser497Pro)
|
rs1181000748
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1550G>A (p.Arg517Lys)
|
rs765781653
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1566C>T (p.Asp522=)
|
rs200893602
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1594A>G (p.Ile532Val)
|
rs764496748
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1609C>T (p.His537Tyr)
|
rs1314485669
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1610A>G (p.His537Arg)
|
rs988963661
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1626G>A (p.Gln542=)
|
rs781693793
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1663C>T (p.Arg555Ter)
|
rs587776973
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1664G>A (p.Arg555Gln)
|
rs199688798
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1666G>A (p.Asp556Asn)
|
rs1064795160
|
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.167A>G (p.Lys56Arg)
|
rs966689579
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1700G>A (p.Arg567Gln)
|
rs985499891
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1704C>G (p.Asp568Glu)
|
rs1236432902
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1707C>T (p.Ser569=)
|
rs775170805
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1720A>G (p.Arg574Gly)
|
rs762484005
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1752G>T (p.Leu584=)
|
rs761259227
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1777C>T (p.Pro593Ser)
|
rs777632867
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1782G>C (p.Gln594His)
|
rs1446743254
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1794T>G (p.Ile598Met)
|
rs918653735
|
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.1888A>G (p.Ile630Val)
|
rs775666547
|
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.1936A>G (p.Ser646Gly)
|
rs377294383
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.194-16A>G
|
rs746137304
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.194-3T>C
|
rs749093030
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.194-5T>C
|
rs752848631
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2006+4A>G
|
rs758150938
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2019C>G (p.Ser673=)
|
rs372975881
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2098G>T (p.Gly700Cys)
|
rs767158228
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.20A>G (p.Tyr7Cys)
|
rs748813142
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2105-9T>C
|
rs757394980
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2161C>A (p.Pro721Thr)
|
rs568282457
|
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.21C>G (p.Tyr7Ter)
|
rs768241563
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2223A>C (p.Gly741=)
|
rs1396714133
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2281C>T (p.Pro761Ser)
|
rs2091060364
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2310C>T (p.Tyr770=)
|
rs2091062429
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2335C>G (p.Pro779Ala)
|
rs756599738
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2341G>C (p.Ala781Pro)
|
rs761280493
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2354+6T>C
|
rs2091065559
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2355-20C>G
|
rs2091201156
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2387A>G (p.Gln796Arg)
|
rs1219014589
|
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.2444T>C (p.Val815Ala)
|
rs777644077
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2466C>A (p.Pro822=)
|
rs770266753
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2482C>T (p.Pro828Ser)
|
rs200526736
|
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.2519T>A (p.Leu840His)
|
rs746197380
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter)
|
rs541024038
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2528G>A (p.Arg843Gln)
|
rs756611357
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2533C>T (p.Arg845Cys)
|
rs780652126
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2534G>A (p.Arg845His)
|
rs1396979413
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2550C>G (p.Asp850Glu)
|
rs774408944
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2577G>A (p.Thr859=)
|
rs375938114
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.257A>G (p.Tyr86Cys)
|
rs377039864
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2590A>T (p.Thr864Ser)
|
rs752198928
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2618C>T (p.Thr873Met)
|
rs2091503304
|
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.268G>A (p.Val90Ile)
|
rs768456731
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2690C>T (p.Ser897Leu)
|
rs371496533
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2691A>C (p.Ser897=)
|
rs754142909
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2731G>A (p.Glu911Lys)
|
rs1214608865
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2735G>A (p.Arg912Gln)
|
rs781159677
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.279+3A>G
|
rs1211730596
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.280-5T>C
|
rs1478867993
|
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.2834G>A (p.Arg945His)
|
rs772897391
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2862C>T (p.Thr954=)
|
rs1027803497
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2863G>A (p.Ala955Thr)
|
rs538998618
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2879C>T (p.Thr960Met)
|
rs1064795107
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2880G>A (p.Thr960=)
|
rs767693306
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2890G>A (p.Ala964Thr)
|
rs780008727
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2894A>G (p.His965Arg)
|
rs2091648587
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.28G>A (p.Val10Ile)
|
rs375027042
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2928C>T (p.Asp976=)
|
rs1296594489
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2942A>G (p.Gln981Arg)
|
rs763270938
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.298G>A (p.Val100Met)
|
rs797045522
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3006G>A (p.Ser1002=)
|
rs373751704
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3008A>G (p.Asp1003Gly)
|
rs1413417458
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3011G>A (p.Arg1004His)
|
rs754059546
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3017T>C (p.Met1006Thr)
|
rs935896142
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3019C>T (p.Arg1007Trp)
|
rs1283955876
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3020G>A (p.Arg1007Gln)
|
rs758260908
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3021+11C>A
|
rs770400266
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.302A>T (p.Glu101Val)
|
rs1395076142
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3049A>G (p.Met1017Val)
|
rs777729993
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3071A>C (p.His1024Pro)
|
rs779166833
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.307A>T (p.Thr103Ser)
|
rs778746859
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3096A>G (p.Pro1032=)
|
rs756207564
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3097G>T (p.Val1033Leu)
|
rs376313159
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3099G>C (p.Val1033=)
|
rs776701394
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3156-16C>T
|
rs1270595543
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3158G>T (p.Cys1053Phe)
|
rs771407307
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3195G>A (p.Lys1065=)
|
rs769742063
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3202G>A (p.Ala1068Thr)
|
rs763158282
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3203C>T (p.Ala1068Val)
|
rs763883192
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3212C>T (p.Ala1071Val)
|
rs750296306
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3220A>G (p.Ser1074Gly)
|
rs778292246
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3232A>G (p.Met1078Val)
|
rs746349872
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3256C>T (p.Pro1086Ser)
|
rs914056153
|
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.3268G>A (p.Gly1090Arg)
|
rs1490171877
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3272C>T (p.Ala1091Val)
|
rs772812141
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3293G>A (p.Arg1098His)
|
rs1185705971
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3319T>C (p.Phe1107Leu)
|
rs1481478267
|
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.3367G>A (p.Gly1123Ser)
|
rs752667037
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3377T>G (p.Leu1126Trp)
|
rs1209384122
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3380G>A (p.Gly1127Asp)
|
rs941078167
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3385T>C (p.Cys1129Arg)
|
rs1037109139
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3398C>T (p.Ser1133Phe)
|
rs1199651277
|
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.346C>T (p.Arg116Ter)
|
rs1315483224
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.347G>A (p.Arg116Gln)
|
rs777623410
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3486-16A>G
|
rs1380841561
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3515C>A (p.Thr1172Asn)
|
rs865860087
|
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.3564-3C>G
|
rs2092931141
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3605C>T (p.Pro1202Leu)
|
rs780318358
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3621C>T (p.Ser1207=)
|
rs775057646
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3623C>T (p.Ala1208Val)
|
rs772280549
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.363+5G>C
|
rs2082845308
|
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.3652G>A (p.Val1218Met)
|
rs752695099
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3675G>A (p.Ala1225=)
|
rs751044834
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3695A>G (p.Gln1232Arg)
|
rs1161767456
|
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.3736G>A (p.Glu1246Lys)
|
rs1278012679
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.373T>C (p.Cys125Arg)
|
rs778986487
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3759C>T (p.Tyr1253=)
|
rs781064503
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3780A>G (p.Ile1260Met)
|
rs1245190784
|
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.3811A>G (p.Met1271Val)
|
rs373588101
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3822C>T (p.Pro1274=)
|
rs750916961
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3853G>A (p.Asp1285Asn)
|
rs746938769
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3858C>T (p.Phe1286=)
|
rs192246855
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3872G>A (p.Arg1291His)
|
rs759266712
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3909C>T (p.Leu1303=)
|
rs545389943
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3910G>A (p.Val1304Met)
|
rs750936617
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3936C>T (p.Leu1312=)
|
rs200848271
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3968A>G (p.Tyr1323Cys)
|
rs1346869002
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3999T>G (p.Ser1333Arg)
|
rs1310040868
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4014C>G (p.Ser1338Arg)
|
rs1384860628
|
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.4096C>T (p.Arg1366Trp)
|
rs1014849515
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4097G>A (p.Arg1366Gln)
|
rs1064795095
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4124A>G (p.His1375Arg)
|
rs1260083367
|
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.4203+16C>T
|
rs2093490070
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4204-12A>G
|
rs776995838
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4299C>A (p.Asp1433Glu)
|
rs753759814
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4300C>T (p.Pro1434Ser)
|
rs1188012593
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4302C>G (p.Pro1434=)
|
rs531253840
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4306C>T (p.Arg1436Cys)
|
rs778323702
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4307G>A (p.Arg1436His)
|
rs948206788
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4331A>C (p.Asn1444Thr)
|
rs758019161
|
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.4354G>A (p.Gly1452Ser)
|
rs1452980660
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4359C>T (p.Ser1453=)
|
rs377333936
|
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.4407G>A (p.Met1469Ile)
|
rs2093652679
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4458A>G (p.Lys1486=)
|
rs1437297526
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4505A>C (p.Tyr1502Ser)
|
rs925107113
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4571A>G (p.Gln1524Arg)
|
rs377585542
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4574G>A (p.Arg1525Gln)
|
rs370366925
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4577G>A (p.Arg1526Gln)
|
rs760341957
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4583G>A (p.Arg1528Gln)
|
rs758757956
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4584G>A (p.Arg1528=)
|
rs1385222091
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4592C>T (p.Thr1531Ile)
|
rs1064794532
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4594A>G (p.Ser1532Gly)
|
rs752046892
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4601C>G (p.Thr1534Ser)
|
rs376838464
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4620C>T (p.Cys1540=)
|
rs756290564
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4628G>A (p.Arg1543Gln)
|
rs749089911
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4630G>A (p.Val1544Ile)
|
rs768487257
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4635C>G (p.Gly1545=)
|
rs41279981
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4677C>G (p.Arg1559=)
|
rs763285231
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.469A>T (p.Ser157Cys)
|
rs201225084
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4711C>T (p.Arg1571Trp)
|
rs778708641
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4712G>A (p.Arg1571Gln)
|
rs748114243
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4725C>T (p.Asp1575=)
|
rs777821159
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4727T>G (p.Phe1576Cys)
|
rs1025857773
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4745A>G (p.Asn1582Ser)
|
rs1415667624
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4747C>T (p.Arg1583Cys)
|
rs759170497
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4757G>A (p.Arg1586Gln)
|
rs774659889
|
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.4795C>T (p.His1599Tyr)
|
rs766418499
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4808C>T (p.Pro1603Leu)
|
rs755174447
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.483+8T>G
|
rs1363426695
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.490T>G (p.Phe164Val)
|
rs1359773870
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.499A>G (p.Thr167Ala)
|
rs374309503
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.503C>T (p.Ser168Leu)
|
rs377718352
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.554A>G (p.Asp185Gly)
|
rs2084720246
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.58+10G>A
|
rs764108301
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.590_592del (p.Asn197_Gly198delinsSer)
|
rs752918565
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.638G>C (p.Ser213Thr)
|
rs374290113
|
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.695-1G>T
|
rs1265464096
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.69A>G (p.Leu23=)
|
rs200119826
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.722C>T (p.Ser241Leu)
|
rs1397187284
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.724A>G (p.Ile242Val)
|
rs112040696
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.728G>A (p.Arg243Gln)
|
rs368129922
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.763T>C (p.Tyr255His)
|
rs372371916
|
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.821T>C (p.Ile274Thr)
|
rs1172897578
|
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+20A>G
|
rs2086531822
|
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_001242896.3(DEPDC5):c.953A>G (p.Asp318Gly)
|
rs1064795102
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.983G>A (p.Arg328Gln)
|
rs775605247
|
0.00001
|
|
NM_001365999.1(SZT2):c.3977C>T (p.Ala1326Val)
|
rs747241860
|
0.00001
|
|
NM_001365999.1(SZT2):c.4135C>T (p.Arg1379Trp)
|
rs752473314
|
0.00001
|
|
NM_001365999.1(SZT2):c.5165G>A (p.Arg1722His)
|
rs562214305
|
0.00001
|
|
NM_001365999.1(SZT2):c.7112A>T (p.Glu2371Val)
|
rs1306918506
|
0.00001
|
|
NM_001365999.1(SZT2):c.7887G>A (p.Met2629Ile)
|
rs748723710
|
0.00001
|
|
NM_001365999.1(SZT2):c.8939C>T (p.Thr2980Ile)
|
rs766294629
|
0.00001
|
|
NM_004287.5(GOSR2):c.*2213G>T
|
rs886053084
|
0.00001
|
|
NM_004287.5(GOSR2):c.*2589T>C
|
rs886053087
|
0.00001
|
|
NM_004287.5(GOSR2):c.104A>G (p.Asn35Ser)
|
rs148962223
|
0.00001
|
|
NM_004287.5(GOSR2):c.10C>G (p.Leu4Val)
|
rs756276963
|
0.00001
|
|
NM_004287.5(GOSR2):c.128A>G (p.Gln43Arg)
|
rs772763319
|
0.00001
|
|
NM_004287.5(GOSR2):c.140G>A (p.Arg47His)
|
rs771228855
|
0.00001
|
|
NM_004287.5(GOSR2):c.14T>A (p.Phe5Tyr)
|
rs897281647
|
0.00001
|
|
NM_004287.5(GOSR2):c.154G>A (p.Glu52Lys)
|
rs1286041018
|
0.00001
|
|
NM_004287.5(GOSR2):c.170A>G (p.Lys57Arg)
|
rs1396367618
|
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.184A>T (p.Lys62Ter)
|
rs1380954046
|
0.00001
|
|
NM_004287.5(GOSR2):c.186A>G (p.Lys62=)
|
rs755897636
|
0.00001
|
|
NM_004287.5(GOSR2):c.1A>G (p.Met1Val)
|
rs879328855
|
0.00001
|
|
NM_004287.5(GOSR2):c.205C>T (p.Arg69Trp)
|
rs770149230
|
0.00001
|
|
NM_004287.5(GOSR2):c.206G>C (p.Arg69Pro)
|
rs780211637
|
0.00001
|
|
NM_004287.5(GOSR2):c.237C>T (p.His79=)
|
rs1186777949
|
0.00001
|
|
NM_004287.5(GOSR2):c.247G>A (p.Ala83Thr)
|
rs920586501
|
0.00001
|
|
NM_004287.5(GOSR2):c.248C>T (p.Ala83Val)
|
rs577835455
|
0.00001
|
|
NM_004287.5(GOSR2):c.249G>A (p.Ala83=)
|
rs1057520593
|
0.00001
|
|
NM_004287.5(GOSR2):c.260T>C (p.Phe87Ser)
|
rs374912150
|
0.00001
|
|
NM_004287.5(GOSR2):c.266A>G (p.His89Arg)
|
rs1598989011
|
0.00001
|
|
NM_004287.5(GOSR2):c.28A>G (p.Lys10Glu)
|
rs1278419518
|
0.00001
|
|
NM_004287.5(GOSR2):c.29+15G>T
|
rs374396285
|
0.00001
|
|
NM_004287.5(GOSR2):c.29+3G>A
|
rs794726915
|
0.00001
|
|
NM_004287.5(GOSR2):c.30-15C>T
|
rs750704163
|
0.00001
|
|
NM_004287.5(GOSR2):c.301C>T (p.Arg101Ter)
|
rs764802895
|
0.00001
|
|
NM_004287.5(GOSR2):c.331A>G (p.Thr111Ala)
|
rs780448159
|
0.00001
|
|
NM_004287.5(GOSR2):c.336C>T (p.Asn112=)
|
rs755211944
|
0.00001
|
|
NM_004287.5(GOSR2):c.358A>G (p.Met120Val)
|
rs769454681
|
0.00001
|
|
NM_004287.5(GOSR2):c.364G>A (p.Glu122Lys)
|
rs374613085
|
0.00001
|
|
NM_004287.5(GOSR2):c.371T>C (p.Leu124Pro)
|
rs1189596801
|
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.451C>G (p.Leu151Val)
|
rs756144831
|
0.00001
|
|
NM_004287.5(GOSR2):c.478-4C>G
|
rs777442803
|
0.00001
|
|
NM_004287.5(GOSR2):c.541C>G (p.Leu181Val)
|
rs772342696
|
0.00001
|
|
NM_004287.5(GOSR2):c.553C>T (p.Arg185Trp)
|
rs771037415
|
0.00001
|
|
NM_004287.5(GOSR2):c.55A>G (p.Met19Val)
|
rs770329469
|
0.00001
|
|
NM_004287.5(GOSR2):c.56T>C (p.Met19Thr)
|
rs374861039
|
0.00001
|
|
NM_004287.5(GOSR2):c.77A>G (p.Asp26Gly)
|
rs773543394
|
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.94+4A>G
|
rs796052540
|
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.1009G>A (p.Glu337Lys)
|
rs560655563
|
0.00001
|
|
NM_005045.4(RELN):c.10120A>G (p.Ile3374Val)
|
rs752768228
|
0.00001
|
|
NM_005045.4(RELN):c.10123G>A (p.Ala3375Thr)
|
rs759744782
|
0.00001
|
|
NM_005045.4(RELN):c.10131C>G (p.His3377Gln)
|
rs767876947
|
0.00001
|
|
NM_005045.4(RELN):c.10157A>G (p.Gln3386Arg)
|
rs1562841823
|
0.00001
|
|
NM_005045.4(RELN):c.10177C>T (p.Pro3393Ser)
|
rs771869485
|
0.00001
|
|
NM_005045.4(RELN):c.10190G>A (p.Arg3397Gln)
|
rs866584196
|
0.00001
|
|
NM_005045.4(RELN):c.10210C>T (p.Arg3404Cys)
|
rs772932844
|
0.00001
|
|
NM_005045.4(RELN):c.10232A>G (p.Asn3411Ser)
|
rs747044548
|
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.10288A>C (p.Thr3430Pro)
|
rs1392502152
|
0.00001
|
|
NM_005045.4(RELN):c.10292G>A (p.Arg3431His)
|
rs1442266027
|
0.00001
|
|
NM_005045.4(RELN):c.10368T>C (p.Leu3456=)
|
rs1365324977
|
0.00001
|
|
NM_005045.4(RELN):c.10372C>T (p.Arg3458Ter)
|
rs866898263
|
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.1189G>A (p.Glu397Lys)
|
rs1554402135
|
0.00001
|
|
NM_005045.4(RELN):c.1193G>A (p.Gly398Asp)
|
rs766992224
|
0.00001
|
|
NM_005045.4(RELN):c.1252G>A (p.Glu418Lys)
|
rs983845835
|
0.00001
|
|
NM_005045.4(RELN):c.1277G>A (p.Ser426Asn)
|
rs568950079
|
0.00001
|
|
NM_005045.4(RELN):c.127C>A (p.His43Asn)
|
rs369522512
|
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.1290A>G (p.Gly430=)
|
rs750986647
|
0.00001
|
|
NM_005045.4(RELN):c.1302G>C (p.Leu434Phe)
|
rs1338264030
|
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.1435G>T (p.Val479Leu)
|
rs1220962945
|
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.1499T>C (p.Ile500Thr)
|
rs759633233
|
0.00001
|
|
NM_005045.4(RELN):c.1506A>G (p.Gly502=)
|
rs774716885
|
0.00001
|
|
NM_005045.4(RELN):c.1517A>T (p.His506Leu)
|
rs375542264
|
0.00001
|
|
NM_005045.4(RELN):c.1532C>T (p.Thr511Ile)
|
rs372928932
|
0.00001
|
|
NM_005045.4(RELN):c.1533C>T (p.Thr511=)
|
rs746537027
|
0.00001
|
|
NM_005045.4(RELN):c.1588G>A (p.Glu530Lys)
|
rs745368912
|
0.00001
|
|
NM_005045.4(RELN):c.1626A>G (p.Gln542=)
|
rs1244905315
|
0.00001
|
|
NM_005045.4(RELN):c.163G>A (p.Val55Met)
|
rs753619762
|
0.00001
|
|
NM_005045.4(RELN):c.1653T>A (p.Asn551Lys)
|
rs1417611613
|
0.00001
|
|
NM_005045.4(RELN):c.1688T>G (p.Val563Gly)
|
rs1832944514
|
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.1759A>G (p.Asn587Asp)
|
rs1051169273
|
0.00001
|
|
NM_005045.4(RELN):c.1763+3A>G
|
rs371095209
|
0.00001
|
|
NM_005045.4(RELN):c.1769G>C (p.Ser590Thr)
|
rs779939013
|
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.1820A>G (p.Glu607Gly)
|
rs1554397636
|
0.00001
|
|
NM_005045.4(RELN):c.1831G>A (p.Glu611Lys)
|
rs776124922
|
0.00001
|
|
NM_005045.4(RELN):c.1846C>T (p.Pro616Ser)
|
rs1460850066
|
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.1892G>A (p.Gly631Glu)
|
rs398124190
|
0.00001
|
|
NM_005045.4(RELN):c.1893-14T>C
|
rs1199405213
|
0.00001
|
|
NM_005045.4(RELN):c.1893-3C>T
|
rs1214133012
|
0.00001
|
|
NM_005045.4(RELN):c.1906A>G (p.Thr636Ala)
|
rs756344611
|
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.1970C>T (p.Pro657Leu)
|
rs1325531129
|
0.00001
|
|
NM_005045.4(RELN):c.1975C>A (p.Leu659Ile)
|
rs199851352
|
0.00001
|
|
NM_005045.4(RELN):c.2019A>G (p.Ser673=)
|
rs746420791
|
0.00001
|
|
NM_005045.4(RELN):c.2053A>G (p.Thr685Ala)
|
rs779358126
|
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.2171A>G (p.His724Arg)
|
rs746516208
|
0.00001
|
|
NM_005045.4(RELN):c.2211T>C (p.Gly737=)
|
rs1201821080
|
0.00001
|
|
NM_005045.4(RELN):c.226+4G>C
|
rs749125854
|
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.232A>G (p.Ile78Val)
|
rs768499951
|
0.00001
|
|
NM_005045.4(RELN):c.2351C>T (p.Thr784Met)
|
rs144235468
|
0.00001
|
|
NM_005045.4(RELN):c.2361C>T (p.Ala787=)
|
rs1832560651
|
0.00001
|
|
NM_005045.4(RELN):c.2425C>T (p.Leu809Phe)
|
rs1452060313
|
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.2465+5G>T
|
rs772717691
|
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.2603G>A (p.Ser868Asn)
|
rs926955647
|
0.00001
|
|
NM_005045.4(RELN):c.261G>T (p.Leu87Phe)
|
rs779347175
|
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.2725G>T (p.Ala909Ser)
|
rs1167526294
|
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.2860A>G (p.Thr954Ala)
|
rs1471834146
|
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.293T>C (p.Val98Ala)
|
rs1471699014
|
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.3005C>G (p.Thr1002Ser)
|
rs1376812440
|
0.00001
|
|
NM_005045.4(RELN):c.3008+6A>G
|
rs1229943471
|
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.3022C>T (p.Arg1008Cys)
|
rs774777246
|
0.00001
|
|
NM_005045.4(RELN):c.3028C>T (p.Arg1010Cys)
|
rs375752077
|
0.00001
|
|
NM_005045.4(RELN):c.3107T>A (p.Met1036Lys)
|
rs1831762757
|
0.00001
|
|
NM_005045.4(RELN):c.3109T>G (p.Cys1037Gly)
|
rs1262470607
|
0.00001
|
|
NM_005045.4(RELN):c.3129C>T (p.Cys1043=)
|
rs149062691
|
0.00001
|
|
NM_005045.4(RELN):c.3146+5G>A
|
rs1468648706
|
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.3164A>G (p.Gln1055Arg)
|
rs1455749393
|
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.331G>A (p.Gly111Arg)
|
rs760704088
|
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.3412G>A (p.Gly1138Arg)
|
rs772114071
|
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.3527T>G (p.Phe1176Cys)
|
rs755937551
|
0.00001
|
|
NM_005045.4(RELN):c.3539+15G>A
|
rs1562912702
|
0.00001
|
|
NM_005045.4(RELN):c.3540-20A>G
|
rs1390416603
|
0.00001
|
|
NM_005045.4(RELN):c.356A>G (p.Gln119Arg)
|
rs770981899
|
0.00001
|
|
NM_005045.4(RELN):c.3617G>A (p.Gly1206Glu)
|
rs866737719
|
0.00001
|
|
NM_005045.4(RELN):c.3622G>A (p.Asp1208Asn)
|
rs1230772547
|
0.00001
|
|
NM_005045.4(RELN):c.3638C>T (p.Ala1213Val)
|
rs750474453
|
0.00001
|
|
NM_005045.4(RELN):c.3645T>C (p.Asp1215=)
|
rs571231412
|
0.00001
|
|
NM_005045.4(RELN):c.3664G>A (p.Glu1222Lys)
|
rs762404220
|
0.00001
|
|
NM_005045.4(RELN):c.3673A>G (p.Lys1225Glu)
|
rs747877040
|
0.00001
|
|
NM_005045.4(RELN):c.3700A>G (p.Thr1234Ala)
|
rs758305250
|
0.00001
|
|
NM_005045.4(RELN):c.3706C>T (p.Pro1236Ser)
|
rs750302438
|
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.3789G>A (p.Met1263Ile)
|
rs778006321
|
0.00001
|
|
NM_005045.4(RELN):c.3805T>C (p.Phe1269Leu)
|
rs794727441
|
0.00001
|
|
NM_005045.4(RELN):c.3809G>T (p.Cys1270Phe)
|
rs1831475457
|
0.00001
|
|
NM_005045.4(RELN):c.3849T>G (p.Asp1283Glu)
|
rs964191577
|
0.00001
|
|
NM_005045.4(RELN):c.3872G>A (p.Arg1291Gln)
|
rs774998117
|
0.00001
|
|
NM_005045.4(RELN):c.3912+14A>G
|
rs777883012
|
0.00001
|
|
NM_005045.4(RELN):c.3912+2T>G
|
rs1226957030
|
0.00001
|
|
NM_005045.4(RELN):c.3920T>C (p.Ile1307Thr)
|
rs1372349812
|
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.3980C>T (p.Ala1327Val)
|
rs959509012
|
0.00001
|
|
NM_005045.4(RELN):c.4006G>C (p.Glu1336Gln)
|
rs758828226
|
0.00001
|
|
NM_005045.4(RELN):c.4019C>T (p.Pro1340Leu)
|
rs754927978
|
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.4176C>A (p.Ser1392Arg)
|
rs765007573
|
0.00001
|
|
NM_005045.4(RELN):c.4195C>G (p.Pro1399Ala)
|
rs759880105
|
0.00001
|
|
NM_005045.4(RELN):c.4369A>C (p.Lys1457Gln)
|
rs890007891
|
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.4457A>G (p.Asn1486Ser)
|
rs202161592
|
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.4484C>T (p.Thr1495Met)
|
rs369404310
|
0.00001
|
|
NM_005045.4(RELN):c.449C>T (p.Ala150Val)
|
rs752566456
|
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.4564A>T (p.Ile1522Phe)
|
rs757322020
|
0.00001
|
|
NM_005045.4(RELN):c.4632T>C (p.His1544=)
|
rs759271716
|
0.00001
|
|
NM_005045.4(RELN):c.4647G>C (p.Leu1549Phe)
|
rs769890427
|
0.00001
|
|
NM_005045.4(RELN):c.4713T>C (p.Pro1571=)
|
rs546656701
|
0.00001
|
|
NM_005045.4(RELN):c.4719G>A (p.Thr1573=)
|
rs370566453
|
0.00001
|
|
NM_005045.4(RELN):c.4737A>G (p.Gln1579=)
|
rs768948021
|
0.00001
|
|
NM_005045.4(RELN):c.4739C>T (p.Pro1580Leu)
|
rs1488556290
|
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.4840A>G (p.Ile1614Val)
|
rs758157213
|
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.4904T>G (p.Met1635Arg)
|
rs779701633
|
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.491G>A (p.Arg164Gln)
|
rs1193525098
|
0.00001
|
|
NM_005045.4(RELN):c.4934T>C (p.Ile1645Thr)
|
rs537366000
|
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.4951G>T (p.Ala1651Ser)
|
rs755003399
|
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.5067C>A (p.Asn1689Lys)
|
rs1030981974
|
0.00001
|
|
NM_005045.4(RELN):c.5075A>G (p.Lys1692Arg)
|
rs1001125058
|
0.00001
|
|
NM_005045.4(RELN):c.5117T>C (p.Ile1706Thr)
|
rs1156996317
|
0.00001
|
|
NM_005045.4(RELN):c.5135C>T (p.Thr1712Met)
|
rs1056128260
|
0.00001
|
|
NM_005045.4(RELN):c.5146A>G (p.Ile1716Val)
|
rs776664031
|
0.00001
|
|
NM_005045.4(RELN):c.5166C>G (p.Phe1722Leu)
|
rs886061856
|
0.00001
|
|
NM_005045.4(RELN):c.5179C>T (p.Arg1727Trp)
|
rs757649565
|
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.5227T>C (p.Phe1743Leu)
|
rs773427684
|
0.00001
|
|
NM_005045.4(RELN):c.525G>C (p.Gln175His)
|
rs369997646
|
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.5371G>A (p.Gly1791Arg)
|
rs1422208791
|
0.00001
|
|
NM_005045.4(RELN):c.5377T>G (p.Tyr1793Asp)
|
rs760957004
|
0.00001
|
|
NM_005045.4(RELN):c.5378A>G (p.Tyr1793Cys)
|
rs775962499
|
0.00001
|
|
NM_005045.4(RELN):c.5379T>C (p.Tyr1793=)
|
rs772320097
|
0.00001
|
|
NM_005045.4(RELN):c.5390T>C (p.Val1797Ala)
|
rs1462688546
|
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.5489G>A (p.Gly1830Asp)
|
rs1255854701
|
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.5630C>A (p.Ser1877Tyr)
|
rs1253194353
|
0.00001
|
|
NM_005045.4(RELN):c.568C>G (p.Pro190Ala)
|
rs1200261994
|
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.5717T>C (p.Ile1906Thr)
|
rs772921952
|
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.5744A>G (p.Tyr1915Cys)
|
rs1373786748
|
0.00001
|
|
NM_005045.4(RELN):c.5747C>G (p.Thr1916Ser)
|
rs1223552734
|
0.00001
|
|
NM_005045.4(RELN):c.5756C>A (p.Thr1919Asn)
|
rs534336272
|
0.00001
|
|
NM_005045.4(RELN):c.577+9T>C
|
rs750186579
|
0.00001
|
|
NM_005045.4(RELN):c.578-20A>G
|
rs370595753
|
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.5932A>G (p.Ile1978Val)
|
rs778268821
|
0.00001
|
|
NM_005045.4(RELN):c.5934C>T (p.Ile1978=)
|
rs141509094
|
0.00001
|
|
NM_005045.4(RELN):c.5936G>A (p.Gly1979Asp)
|
rs1383865192
|
0.00001
|
|
NM_005045.4(RELN):c.5942A>G (p.Tyr1981Cys)
|
rs979289169
|
0.00001
|
|
NM_005045.4(RELN):c.5965G>A (p.Ala1989Thr)
|
rs1233107226
|
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.6072+4C>G
|
rs369869975
|
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.6107C>T (p.Ala2036Val)
|
rs368438329
|
0.00001
|
|
NM_005045.4(RELN):c.6157C>T (p.Leu2053Phe)
|
rs779142703
|
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.6256G>A (p.Gly2086Ser)
|
rs752958202
|
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.6398A>C (p.Glu2133Ala)
|
rs1349996046
|
0.00001
|
|
NM_005045.4(RELN):c.6431A>G (p.Asn2144Ser)
|
rs776658515
|
0.00001
|
|
NM_005045.4(RELN):c.6440A>C (p.Lys2147Thr)
|
rs1184255602
|
0.00001
|
|
NM_005045.4(RELN):c.6467G>T (p.Gly2156Val)
|
rs1830260428
|
0.00001
|
|
NM_005045.4(RELN):c.6471A>G (p.Pro2157=)
|
rs370086835
|
0.00001
|
|
NM_005045.4(RELN):c.6512A>G (p.Asp2171Gly)
|
rs754745320
|
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.6597T>A (p.Ser2199Arg)
|
rs1353952617
|
0.00001
|
|
NM_005045.4(RELN):c.6607C>A (p.Leu2203Ile)
|
rs1296074586
|
0.00001
|
|
NM_005045.4(RELN):c.673T>G (p.Cys225Gly)
|
rs371731772
|
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.6827T>C (p.Ile2276Thr)
|
rs748141276
|
0.00001
|
|
NM_005045.4(RELN):c.6869G>A (p.Arg2290His)
|
rs1035646248
|
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.6950T>C (p.Ile2317Thr)
|
rs1469133138
|
0.00001
|
|
NM_005045.4(RELN):c.7014C>G (p.His2338Gln)
|
rs1562879189
|
0.00001
|
|
NM_005045.4(RELN):c.7055A>T (p.Asp2352Val)
|
rs143688278
|
0.00001
|
|
NM_005045.4(RELN):c.707A>G (p.His236Arg)
|
rs771005621
|
0.00001
|
|
NM_005045.4(RELN):c.7093G>A (p.Val2365Met)
|
rs756299161
|
0.00001
|
|
NM_005045.4(RELN):c.7094T>G (p.Val2365Gly)
|
rs1424394208
|
0.00001
|
|
NM_005045.4(RELN):c.7108G>A (p.Val2370Ile)
|
rs752238353
|
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.7181C>T (p.Ala2394Val)
|
rs762035577
|
0.00001
|
|
NM_005045.4(RELN):c.7182G>A (p.Ala2394=)
|
rs879182818
|
0.00001
|
|
NM_005045.4(RELN):c.7254T>A (p.Asn2418Lys)
|
rs1307372831
|
0.00001
|
|
NM_005045.4(RELN):c.7256T>G (p.Val2419Gly)
|
rs777442978
|
0.00001
|
|
NM_005045.4(RELN):c.7267C>T (p.Arg2423Cys)
|
rs1165686675
|
0.00001
|
|
NM_005045.4(RELN):c.7349+16C>G
|
rs1830024527
|
0.00001
|
|
NM_005045.4(RELN):c.7349+2T>C
|
rs982831716
|
0.00001
|
|
NM_005045.4(RELN):c.737A>G (p.Tyr246Cys)
|
rs779269833
|
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.7489G>A (p.Val2497Ile)
|
rs375694777
|
0.00001
|
|
NM_005045.4(RELN):c.7498G>C (p.Glu2500Gln)
|
rs1554369707
|
0.00001
|
|
NM_005045.4(RELN):c.74C>T (p.Ala25Val)
|
rs757957218
|
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.7668+3G>T
|
rs748053614
|
0.00001
|
|
NM_005045.4(RELN):c.7669G>A (p.Gly2557Ser)
|
rs560581732
|
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.7760C>A (p.Pro2587Gln)
|
rs1455056584
|
0.00001
|
|
NM_005045.4(RELN):c.7762A>C (p.Asn2588His)
|
rs569919781
|
0.00001
|
|
NM_005045.4(RELN):c.7768C>T (p.Arg2590Cys)
|
rs1313455580
|
0.00001
|
|
NM_005045.4(RELN):c.7769G>A (p.Arg2590His)
|
rs541813551
|
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.7897G>A (p.Glu2633Lys)
|
rs958494439
|
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.7963A>G (p.Ile2655Val)
|
rs1829536442
|
0.00001
|
|
NM_005045.4(RELN):c.7974C>T (p.Val2658=)
|
rs1279589989
|
0.00001
|
|
NM_005045.4(RELN):c.8011C>G (p.Leu2671Val)
|
rs761934008
|
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.8038C>T (p.Pro2680Ser)
|
rs777417208
|
0.00001
|
|
NM_005045.4(RELN):c.8076C>T (p.Val2692=)
|
rs772775437
|
0.00001
|
|
NM_005045.4(RELN):c.8095A>G (p.Met2699Val)
|
rs747867154
|
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.8182G>A (p.Gly2728Ser)
|
rs1463489255
|
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.8248A>C (p.Thr2750Pro)
|
rs1168374024
|
0.00001
|
|
NM_005045.4(RELN):c.8261T>G (p.Ile2754Ser)
|
rs771681966
|
0.00001
|
|
NM_005045.4(RELN):c.8269T>C (p.Phe2757Leu)
|
rs560897786
|
0.00001
|
|
NM_005045.4(RELN):c.8347G>A (p.Gly2783Ser)
|
rs794727997
|
0.00001
|
|
NM_005045.4(RELN):c.8363A>G (p.Tyr2788Cys)
|
rs1259871212
|
0.00001
|
|
NM_005045.4(RELN):c.8378G>A (p.Cys2793Tyr)
|
rs774015567
|
0.00001
|
|
NM_005045.4(RELN):c.8389G>A (p.Asp2797Asn)
|
rs765919904
|
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.8490-3T>C
|
rs373564931
|
0.00001
|
|
NM_005045.4(RELN):c.8490-4A>G
|
rs759954678
|
0.00001
|
|
NM_005045.4(RELN):c.8528T>C (p.Met2843Thr)
|
rs1391842678
|
0.00001
|
|
NM_005045.4(RELN):c.8541C>T (p.Ile2847=)
|
rs746020620
|
0.00001
|
|
NM_005045.4(RELN):c.8542G>A (p.Asp2848Asn)
|
rs147624295
|
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+6G>C
|
rs770342200
|
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.8672T>C (p.Phe2891Ser)
|
rs752516448
|
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.8797A>G (p.Thr2933Ala)
|
rs1172953100
|
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.8884A>G (p.Met2962Val)
|
rs772961648
|
0.00001
|
|
NM_005045.4(RELN):c.8895C>T (p.Cys2965=)
|
rs901430026
|
0.00001
|
|
NM_005045.4(RELN):c.88T>A (p.Tyr30Asn)
|
rs764175823
|
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.9019C>T (p.Leu3007Phe)
|
rs752135641
|
0.00001
|
|
NM_005045.4(RELN):c.9086A>G (p.Asn3029Ser)
|
rs886044056
|
0.00001
|
|
NM_005045.4(RELN):c.9105G>A (p.Gly3035=)
|
rs1279644782
|
0.00001
|
|
NM_005045.4(RELN):c.9113G>A (p.Arg3038His)
|
rs1828848847
|
0.00001
|
|
NM_005045.4(RELN):c.9194-10T>C
|
rs1242391167
|
0.00001
|
|
NM_005045.4(RELN):c.9220A>T (p.Ser3074Cys)
|
rs774630932
|
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.9350G>C (p.Gly3117Ala)
|
rs376611357
|
0.00001
|
|
NM_005045.4(RELN):c.9369+6G>C
|
rs770317549
|
0.00001
|
|
NM_005045.4(RELN):c.9399T>C (p.Cys3133=)
|
rs752787017
|
0.00001
|
|
NM_005045.4(RELN):c.940T>C (p.Tyr314His)
|
rs763000457
|
0.00001
|
|
NM_005045.4(RELN):c.9447G>A (p.Ser3149=)
|
rs770503009
|
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.9664A>G (p.Ile3222Val)
|
rs142638365
|
0.00001
|
|
NM_005045.4(RELN):c.9669C>G (p.Asp3223Glu)
|
rs1442238479
|
0.00001
|
|
NM_005045.4(RELN):c.9672C>T (p.His3224=)
|
rs781754733
|
0.00001
|
|
NM_005045.4(RELN):c.9751G>A (p.Glu3251Lys)
|
rs376520049
|
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.9832G>C (p.Val3278Leu)
|
rs1381921892
|
0.00001
|
|
NM_005045.4(RELN):c.9838G>A (p.Glu3280Lys)
|
rs1354755133
|
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.1028A>G (p.Asn343Ser)
|
rs758929116
|
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.1076G>A (p.Arg359His)
|
rs141879956
|
0.00001
|
|
NM_005076.5(CNTN2):c.1111-11C>T
|
rs765974056
|
0.00001
|
|
NM_005076.5(CNTN2):c.1115G>A (p.Arg372Gln)
|
rs1223229519
|
0.00001
|
|
NM_005076.5(CNTN2):c.1125G>A (p.Val375=)
|
rs758300776
|
0.00001
|
|
NM_005076.5(CNTN2):c.1141C>T (p.Arg381Trp)
|
rs558556897
|
0.00001
|
|
NM_005076.5(CNTN2):c.1142G>A (p.Arg381Gln)
|
rs749478140
|
0.00001
|
|
NM_005076.5(CNTN2):c.1173C>A (p.Gly391=)
|
rs370344142
|
0.00001
|
|
NM_005076.5(CNTN2):c.1174A>G (p.Met392Val)
|
rs1654045217
|
0.00001
|
|
NM_005076.5(CNTN2):c.1192G>C (p.Glu398Gln)
|
rs761256115
|
0.00001
|
|
NM_005076.5(CNTN2):c.1238A>G (p.Gln413Arg)
|
rs558496903
|
0.00001
|
|
NM_005076.5(CNTN2):c.1240+8G>A
|
rs773641285
|
0.00001
|
|
NM_005076.5(CNTN2):c.1241-1G>C
|
rs1553345874
|
0.00001
|
|
NM_005076.5(CNTN2):c.1277G>A (p.Arg426His)
|
rs143340514
|
0.00001
|
|
NM_005076.5(CNTN2):c.1289C>T (p.Ala430Val)
|
rs145944891
|
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.1302A>T (p.Gly434=)
|
rs1346381795
|
0.00001
|
|
NM_005076.5(CNTN2):c.1345G>A (p.Val449Met)
|
rs553631482
|
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.1481T>C (p.Met494Thr)
|
rs1654184527
|
0.00001
|
|
NM_005076.5(CNTN2):c.1495A>G (p.Ser499Gly)
|
rs1040227835
|
0.00001
|
|
NM_005076.5(CNTN2):c.1554C>T (p.Ala518=)
|
rs769684489
|
0.00001
|
|
NM_005076.5(CNTN2):c.1555G>A (p.Asp519Asn)
|
rs779907671
|
0.00001
|
|
NM_005076.5(CNTN2):c.1567G>A (p.Gly523Ser)
|
rs1168168259
|
0.00001
|
|
NM_005076.5(CNTN2):c.1578G>A (p.Leu526=)
|
rs998708044
|
0.00001
|
|
NM_005076.5(CNTN2):c.158C>T (p.Thr53Met)
|
rs369804751
|
0.00001
|
|
NM_005076.5(CNTN2):c.1695+7C>T
|
rs1433018634
|
0.00001
|
|
NM_005076.5(CNTN2):c.1743T>G (p.His581Gln)
|
rs1446657575
|
0.00001
|
|
NM_005076.5(CNTN2):c.1814G>A (p.Arg605Gln)
|
rs762910235
|
0.00001
|
|
NM_005076.5(CNTN2):c.184C>T (p.Arg62Cys)
|
rs763492479
|
0.00001
|
|
NM_005076.5(CNTN2):c.1856T>C (p.Ile619Thr)
|
rs748659639
|
0.00001
|
|
NM_005076.5(CNTN2):c.1878C>A (p.Leu626=)
|
rs1486789598
|
0.00001
|
|
NM_005076.5(CNTN2):c.1970G>A (p.Arg657Gln)
|
rs761837860
|
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.208A>T (p.Thr70Ser)
|
rs555512649
|
0.00001
|
|
NM_005076.5(CNTN2):c.2104A>G (p.Lys702Glu)
|
rs149762176
|
0.00001
|
|
NM_005076.5(CNTN2):c.2110C>T (p.Arg704Trp)
|
rs776680281
|
0.00001
|
|
NM_005076.5(CNTN2):c.2119G>C (p.Glu707Gln)
|
rs1654343660
|
0.00001
|
|
NM_005076.5(CNTN2):c.2140C>T (p.Pro714Ser)
|
rs374773829
|
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.2162G>A (p.Gly721Asp)
|
rs745808857
|
0.00001
|
|
NM_005076.5(CNTN2):c.2163T>C (p.Gly721=)
|
rs756031843
|
0.00001
|
|
NM_005076.5(CNTN2):c.2178G>C (p.Glu726Asp)
|
rs1159334970
|
0.00001
|
|
NM_005076.5(CNTN2):c.2196G>T (p.Thr732=)
|
rs1396081188
|
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.2365C>T (p.Arg789Cys)
|
rs1330386390
|
0.00001
|
|
NM_005076.5(CNTN2):c.2386G>A (p.Asp796Asn)
|
rs1374137076
|
0.00001
|
|
NM_005076.5(CNTN2):c.2431+12C>G
|
rs1436970258
|
0.00001
|
|
NM_005076.5(CNTN2):c.2432-2A>G
|
rs1196223064
|
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.2449A>G (p.Thr817Ala)
|
rs1326524363
|
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.2564G>A (p.Gly855Glu)
|
rs1211430748
|
0.00001
|
|
NM_005076.5(CNTN2):c.256T>C (p.Ser86Pro)
|
rs140567763
|
0.00001
|
|
NM_005076.5(CNTN2):c.2661C>T (p.Thr887=)
|
rs769988245
|
0.00001
|
|
NM_005076.5(CNTN2):c.2662G>A (p.Val888Met)
|
rs775579054
|
0.00001
|
|
NM_005076.5(CNTN2):c.2678G>A (p.Arg893Gln)
|
rs751913913
|
0.00001
|
|
NM_005076.5(CNTN2):c.2712C>T (p.Asn904=)
|
rs1339606709
|
0.00001
|
|
NM_005076.5(CNTN2):c.2717C>T (p.Thr906Met)
|
rs370127764
|
0.00001
|
|
NM_005076.5(CNTN2):c.2731+16T>C
|
rs749504685
|
0.00001
|
|
NM_005076.5(CNTN2):c.2731+6T>A
|
rs769776725
|
0.00001
|
|
NM_005076.5(CNTN2):c.2752A>G (p.Asn918Asp)
|
rs1160114127
|
0.00001
|
|
NM_005076.5(CNTN2):c.2775C>G (p.Ser925Arg)
|
rs1654649315
|
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.3013+5T>A
|
rs764921795
|
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.383G>A (p.Arg128His)
|
rs759086850
|
0.00001
|
|
NM_005076.5(CNTN2):c.391+9C>T
|
rs531062186
|
0.00001
|
|
NM_005076.5(CNTN2):c.415G>A (p.Glu139Lys)
|
rs755814341
|
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.514G>A (p.Glu172Lys)
|
rs763168456
|
0.00001
|
|
NM_005076.5(CNTN2):c.541G>A (p.Gly181Arg)
|
rs754696472
|
0.00001
|
|
NM_005076.5(CNTN2):c.545G>A (p.Arg182His)
|
rs771397976
|
0.00001
|
|
NM_005076.5(CNTN2):c.576G>A (p.Leu192=)
|
rs1232729829
|
0.00001
|
|
NM_005076.5(CNTN2):c.587G>A (p.Arg196Gln)
|
rs200403900
|
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.658G>A (p.Val220Ile)
|
rs758068126
|
0.00001
|
|
NM_005076.5(CNTN2):c.669G>C (p.Lys223Asn)
|
rs549298351
|
0.00001
|
|
NM_005076.5(CNTN2):c.71-19G>A
|
rs762328579
|
0.00001
|
|
NM_005076.5(CNTN2):c.730C>T (p.Arg244Trp)
|
rs746384894
|
0.00001
|
|
NM_005076.5(CNTN2):c.740C>G (p.Ala247Gly)
|
rs763480683
|
0.00001
|
|
NM_005076.5(CNTN2):c.765G>A (p.Gln255=)
|
rs1318994065
|
0.00001
|
|
NM_005076.5(CNTN2):c.792T>G (p.Phe264Leu)
|
rs183799891
|
0.00001
|
|
NM_005076.5(CNTN2):c.885C>T (p.Ser295=)
|
rs765220880
|
0.00001
|
|
NM_005076.5(CNTN2):c.886G>A (p.Val296Ile)
|
rs1187198906
|
0.00001
|
|
NM_005076.5(CNTN2):c.940C>T (p.Arg314Ter)
|
rs1422381117
|
0.00001
|
|
NM_005076.5(CNTN2):c.949G>A (p.Val317Met)
|
rs374463835
|
0.00001
|
|
NM_005076.5(CNTN2):c.959G>A (p.Arg320His)
|
rs769682523
|
0.00001
|
|
NM_005076.5(CNTN2):c.973+5A>G
|
rs1224395695
|
0.00001
|
|
NM_005076.5(CNTN2):c.974-4A>G
|
rs1653998862
|
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.1011A>T (p.Thr337=)
|
rs772127033
|
0.00001
|
|
NM_005097.4(LGI1):c.1040T>C (p.Val347Ala)
|
rs1589775794
|
0.00001
|
|
NM_005097.4(LGI1):c.1060G>T (p.Ala354Ser)
|
rs1438643979
|
0.00001
|
|
NM_005097.4(LGI1):c.1095C>T (p.Asn365=)
|
rs934556455
|
0.00001
|
|
NM_005097.4(LGI1):c.1096G>A (p.Gly366Arg)
|
rs1394822961
|
0.00001
|
|
NM_005097.4(LGI1):c.1129T>C (p.Tyr377His)
|
rs758203843
|
0.00001
|
|
NM_005097.4(LGI1):c.113C>G (p.Ala38Gly)
|
rs768415373
|
0.00001
|
|
NM_005097.4(LGI1):c.1170A>G (p.Thr390=)
|
rs1252407810
|
0.00001
|
|
NM_005097.4(LGI1):c.1210A>T (p.Ser404Cys)
|
rs1564853070
|
0.00001
|
|
NM_005097.4(LGI1):c.1240A>G (p.Asn414Asp)
|
rs775893967
|
0.00001
|
|
NM_005097.4(LGI1):c.1254A>T (p.Gln418His)
|
rs531444070
|
0.00001
|
|
NM_005097.4(LGI1):c.1267C>A (p.Gln423Lys)
|
rs1337103614
|
0.00001
|
|
NM_005097.4(LGI1):c.1285A>G (p.Met429Val)
|
rs147473519
|
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.1330G>A (p.Val444Met)
|
rs772468388
|
0.00001
|
|
NM_005097.4(LGI1):c.1331T>A (p.Val444Glu)
|
rs775901528
|
0.00001
|
|
NM_005097.4(LGI1):c.133G>A (p.Val45Met)
|
rs755563423
|
0.00001
|
|
NM_005097.4(LGI1):c.1342T>C (p.Leu448=)
|
rs376203682
|
0.00001
|
|
NM_005097.4(LGI1):c.135G>C (p.Val45=)
|
rs768003944
|
0.00001
|
|
NM_005097.4(LGI1):c.1371C>T (p.Val457=)
|
rs2059991277
|
0.00001
|
|
NM_005097.4(LGI1):c.1391C>T (p.Ser464Leu)
|
rs747229730
|
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.158C>T (p.Ala53Val)
|
rs778829709
|
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.269C>T (p.Thr90Met)
|
rs796052692
|
0.00001
|
|
NM_005097.4(LGI1):c.287+3G>A
|
rs1370527260
|
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.360A>G (p.Leu120=)
|
rs773488211
|
0.00001
|
|
NM_005097.4(LGI1):c.393A>G (p.Ser131=)
|
rs199548601
|
0.00001
|
|
NM_005097.4(LGI1):c.406C>T (p.Arg136Trp)
|
rs119488099
|
0.00001
|
|
NM_005097.4(LGI1):c.407G>A (p.Arg136Gln)
|
rs767254591
|
0.00001
|
|
NM_005097.4(LGI1):c.430T>C (p.Leu144=)
|
rs764298959
|
0.00001
|
|
NM_005097.4(LGI1):c.432G>A (p.Leu144=)
|
rs920223409
|
0.00001
|
|
NM_005097.4(LGI1):c.46C>G (p.Leu16Val)
|
rs777973395
|
0.00001
|
|
NM_005097.4(LGI1):c.504-20A>G
|
rs796052691
|
0.00001
|
|
NM_005097.4(LGI1):c.505G>A (p.Asp169Asn)
|
rs1207210364
|
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.625C>T (p.Arg209Cys)
|
rs751825973
|
0.00001
|
|
NM_005097.4(LGI1):c.647C>T (p.Ser216Leu)
|
rs1318179573
|
0.00001
|
|
NM_005097.4(LGI1):c.651G>A (p.Lys217=)
|
rs1292925776
|
0.00001
|
|
NM_005097.4(LGI1):c.673+5T>C
|
rs1162193591
|
0.00001
|
|
NM_005097.4(LGI1):c.680C>T (p.Ala227Val)
|
rs750984349
|
0.00001
|
|
NM_005097.4(LGI1):c.69A>G (p.Leu23=)
|
rs868635600
|
0.00001
|
|
NM_005097.4(LGI1):c.715A>G (p.Ile239Val)
|
rs1234927321
|
0.00001
|
|
NM_005097.4(LGI1):c.757G>A (p.Ala253Thr)
|
rs1440639718
|
0.00001
|
|
NM_005097.4(LGI1):c.836C>G (p.Thr279Arg)
|
rs1159639109
|
0.00001
|
|
NM_005097.4(LGI1):c.838+10G>A
|
rs756267808
|
0.00001
|
|
NM_005097.4(LGI1):c.887A>G (p.Tyr296Cys)
|
rs1434032341
|
0.00001
|
|
NM_005097.4(LGI1):c.96T>C (p.Thr32=)
|
rs763640706
|
0.00001
|
|
NM_005097.4(LGI1):c.988C>T (p.Arg330Ter)
|
rs1027289865
|
0.00001
|
|
NM_005097.4(LGI1):c.989G>A (p.Arg330Gln)
|
rs745852819
|
0.00001
|
|
NM_005097.4(LGI1):c.998A>G (p.Asn333Ser)
|
rs796052698
|
0.00001
|
|
NM_005506.4(SCARB2):c.1015T>C (p.Phe339Leu)
|
rs780194648
|
0.00001
|
|
NM_005506.4(SCARB2):c.1039G>A (p.Glu347Lys)
|
rs559054010
|
0.00001
|
|
NM_005506.4(SCARB2):c.1067T>C (p.Met356Thr)
|
rs1010410881
|
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.117+15G>T
|
rs762251387
|
0.00001
|
|
NM_005506.4(SCARB2):c.118-3T>G
|
rs755638994
|
0.00001
|
|
NM_005506.4(SCARB2):c.1187+2dup
|
rs727502783
|
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.1194G>A (p.Thr398=)
|
rs574498998
|
0.00001
|
|
NM_005506.4(SCARB2):c.1208C>T (p.Thr403Ile)
|
rs770343701
|
0.00001
|
|
NM_005506.4(SCARB2):c.1239+8C>G
|
rs369265725
|
0.00001
|
|
NM_005506.4(SCARB2):c.1240-9C>T
|
rs369557905
|
0.00001
|
|
NM_005506.4(SCARB2):c.1270C>T (p.Arg424Ter)
|
rs886041078
|
0.00001
|
|
NM_005506.4(SCARB2):c.1282A>G (p.Met428Val)
|
rs746370059
|
0.00001
|
|
NM_005506.4(SCARB2):c.1302C>G (p.Ile434Met)
|
rs1035540343
|
0.00001
|
|
NM_005506.4(SCARB2):c.1327A>G (p.Met443Val)
|
rs376806999
|
0.00001
|
|
NM_005506.4(SCARB2):c.1329G>A (p.Met443Ile)
|
rs1232863838
|
0.00001
|
|
NM_005506.4(SCARB2):c.1331C>T (p.Ala444Val)
|
rs773957659
|
0.00001
|
|
NM_005506.4(SCARB2):c.1339G>C (p.Val447Leu)
|
rs1350213956
|
0.00001
|
|
NM_005506.4(SCARB2):c.1369G>C (p.Ala457Pro)
|
rs757381866
|
0.00001
|
|
NM_005506.4(SCARB2):c.1382_1383del (p.Gln461fs)
|
rs1233094134
|
0.00001
|
|
NM_005506.4(SCARB2):c.1399-8T>C
|
rs1731903272
|
0.00001
|
|
NM_005506.4(SCARB2):c.1403C>T (p.Thr468Ile)
|
rs796052948
|
0.00001
|
|
NM_005506.4(SCARB2):c.1416A>C (p.Arg472Ser)
|
rs1191433680
|
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.170C>T (p.Pro57Leu)
|
rs1560716152
|
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.203A>G (p.Asn68Ser)
|
rs1394046858
|
0.00001
|
|
NM_005506.4(SCARB2):c.241C>T (p.Pro81Ser)
|
rs878853018
|
0.00001
|
|
NM_005506.4(SCARB2):c.245G>A (p.Arg82Gln)
|
rs1422181706
|
0.00001
|
|
NM_005506.4(SCARB2):c.263C>T (p.Pro88Leu)
|
rs1732696835
|
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.350A>G (p.Tyr117Cys)
|
rs754341111
|
0.00001
|
|
NM_005506.4(SCARB2):c.377G>C (p.Gly126Ala)
|
rs776680365
|
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.463A>G (p.Ile155Val)
|
rs772434203
|
0.00001
|
|
NM_005506.4(SCARB2):c.469G>A (p.Glu157Lys)
|
rs760128942
|
0.00001
|
|
NM_005506.4(SCARB2):c.579C>T (p.Pro193=)
|
rs148029250
|
0.00001
|
|
NM_005506.4(SCARB2):c.593A>G (p.Tyr198Cys)
|
rs1018285383
|
0.00001
|
|
NM_005506.4(SCARB2):c.612+5G>A
|
rs1019363350
|
0.00001
|
|
NM_005506.4(SCARB2):c.613-14T>G
|
rs1484418425
|
0.00001
|
|
NM_005506.4(SCARB2):c.638A>T (p.Tyr213Phe)
|
rs751953388
|
0.00001
|
|
NM_005506.4(SCARB2):c.664T>C (p.Tyr222His)
|
rs1732253776
|
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.704+1G>A
|
rs886041076
|
0.00001
|
|
NM_005506.4(SCARB2):c.704+5G>A
|
rs774271963
|
0.00001
|
|
NM_005506.4(SCARB2):c.705-20C>G
|
rs747460425
|
0.00001
|
|
NM_005506.4(SCARB2):c.705-7A>G
|
rs1217073681
|
0.00001
|
|
NM_005506.4(SCARB2):c.709C>G (p.Leu237Val)
|
rs200332825
|
0.00001
|
|
NM_005506.4(SCARB2):c.716G>T (p.Trp239Leu)
|
rs755176349
|
0.00001
|
|
NM_005506.4(SCARB2):c.766T>C (p.Phe256Leu)
|
rs1241257632
|
0.00001
|
|
NM_005506.4(SCARB2):c.787G>C (p.Asp263His)
|
rs759410840
|
0.00001
|
|
NM_005506.4(SCARB2):c.79C>T (p.Arg27Trp)
|
rs1466314804
|
0.00001
|
|
NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter)
|
rs121909118
|
0.00001
|
|
NM_005506.4(SCARB2):c.866G>A (p.Gly289Glu)
|
rs777478545
|
0.00001
|
|
NM_005506.4(SCARB2):c.921C>T (p.Asp307=)
|
rs1732196836
|
0.00001
|
|
NM_005506.4(SCARB2):c.953G>T (p.Cys318Phe)
|
rs148780369
|
0.00001
|
|
NM_005506.4(SCARB2):c.994+2T>C
|
rs1168653552
|
0.00001
|
|
NM_005670.4(EPM2A):c.120G>A (p.Leu40=)
|
rs1264709179
|
0.00001
|
|
NM_005670.4(EPM2A):c.145G>A (p.Asp49Asn)
|
rs1367012950
|
0.00001
|
|
NM_005670.4(EPM2A):c.149G>T (p.Gly50Val)
|
rs796052422
|
0.00001
|
|
NM_005670.4(EPM2A):c.170C>T (p.Pro57Leu)
|
rs1229724993
|
0.00001
|
|
NM_005670.4(EPM2A):c.181C>G (p.Leu61Val)
|
rs563875151
|
0.00001
|
|
NM_005670.4(EPM2A):c.18G>A (p.Gly6=)
|
rs1432262857
|
0.00001
|
|
NM_005670.4(EPM2A):c.193G>A (p.Glu65Lys)
|
rs796052425
|
0.00001
|
|
NM_005670.4(EPM2A):c.210G>A (p.Glu70=)
|
rs878854780
|
0.00001
|
|
NM_005670.4(EPM2A):c.212C>A (p.Ala71Glu)
|
rs1263035227
|
0.00001
|
|
NM_005670.4(EPM2A):c.215C>T (p.Ala72Val)
|
rs1284392729
|
0.00001
|
|
NM_005670.4(EPM2A):c.223G>A (p.Gly75Arg)
|
rs1184012721
|
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.262T>C (p.Phe88Leu)
|
rs1463000703
|
0.00001
|
|
NM_005670.4(EPM2A):c.271C>T (p.Arg91Trp)
|
rs752244019
|
0.00001
|
|
NM_005670.4(EPM2A):c.272G>A (p.Arg91Gln)
|
rs767203075
|
0.00001
|
|
NM_005670.4(EPM2A):c.278C>T (p.Pro93Leu)
|
rs1239406349
|
0.00001
|
|
NM_005670.4(EPM2A):c.279G>A (p.Pro93=)
|
rs370423440
|
0.00001
|
|
NM_005670.4(EPM2A):c.289C>G (p.Leu97Val)
|
rs1398721266
|
0.00001
|
|
NM_005670.4(EPM2A):c.301+16G>A
|
rs1286855280
|
0.00001
|
|
NM_005670.4(EPM2A):c.301+1G>T
|
rs1361221383
|
0.00001
|
|
NM_005670.4(EPM2A):c.301+4T>C
|
rs761970395
|
0.00001
|
|
NM_005670.4(EPM2A):c.301+5T>C
|
rs776655093
|
0.00001
|
|
NM_005670.4(EPM2A):c.302-1G>C
|
rs369463720
|
0.00001
|
|
NM_005670.4(EPM2A):c.305A>G (p.Asn102Ser)
|
rs1448945231
|
0.00001
|
|
NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys)
|
rs137852915
|
0.00001
|
|
NM_005670.4(EPM2A):c.323G>A (p.Arg108His)
|
rs202234583
|
0.00001
|
|
NM_005670.4(EPM2A):c.332C>G (p.Thr111Ser)
|
rs1480939817
|
0.00001
|
|
NM_005670.4(EPM2A):c.335A>G (p.Tyr112Cys)
|
rs757199020
|
0.00001
|
|
NM_005670.4(EPM2A):c.36C>T (p.Ala12=)
|
rs1287653139
|
0.00001
|
|
NM_005670.4(EPM2A):c.397A>G (p.Thr133Ala)
|
rs773728573
|
0.00001
|
|
NM_005670.4(EPM2A):c.427A>G (p.Thr143Ala)
|
rs144204777
|
0.00001
|
|
NM_005670.4(EPM2A):c.437A>T (p.Tyr146Phe)
|
rs1780893400
|
0.00001
|
|
NM_005670.4(EPM2A):c.43G>A (p.Gly15Ser)
|
rs1310207444
|
0.00001
|
|
NM_005670.4(EPM2A):c.449C>T (p.Ala150Val)
|
rs753781421
|
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.496C>G (p.Leu166Val)
|
rs147645370
|
0.00001
|
|
NM_005670.4(EPM2A):c.511C>T (p.Arg171Cys)
|
rs371974399
|
0.00001
|
|
NM_005670.4(EPM2A):c.512G>A (p.Arg171His)
|
rs137852916
|
0.00001
|
|
NM_005670.4(EPM2A):c.524A>G (p.His175Arg)
|
rs1264840627
|
0.00001
|
|
NM_005670.4(EPM2A):c.569T>A (p.Met190Lys)
|
rs191406622
|
0.00001
|
|
NM_005670.4(EPM2A):c.600G>T (p.Gln200His)
|
rs142658692
|
0.00001
|
|
NM_005670.4(EPM2A):c.619C>T (p.Arg207Cys)
|
rs186710183
|
0.00001
|
|
NM_005670.4(EPM2A):c.666G>A (p.Arg222=)
|
rs762189100
|
0.00001
|
|
NM_005670.4(EPM2A):c.676T>G (p.Leu226Val)
|
rs754313309
|
0.00001
|
|
NM_005670.4(EPM2A):c.70G>T (p.Gly24Trp)
|
rs1554269710
|
0.00001
|
|
NM_005670.4(EPM2A):c.714C>T (p.Thr238=)
|
rs762653955
|
0.00001
|
|
NM_005670.4(EPM2A):c.719-2A>T
|
rs772082648
|
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.814C>T (p.Arg272Cys)
|
rs765820100
|
0.00001
|
|
NM_005670.4(EPM2A):c.822C>T (p.Thr274=)
|
rs763812238
|
0.00001
|
|
NM_005670.4(EPM2A):c.824C>T (p.Ala275Val)
|
rs1027738243
|
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_005670.4(EPM2A):c.935G>A (p.Arg312Gln)
|
rs762852066
|
0.00001
|
|
NM_005670.4(EPM2A):c.937G>A (p.Ala313Thr)
|
rs189479757
|
0.00001
|
|
NM_005670.4(EPM2A):c.970G>T (p.Val324Phe)
|
rs941854726
|
0.00001
|
|
NM_005670.4(EPM2A):c.973C>T (p.Arg325Cys)
|
rs746413047
|
0.00001
|
|
NM_005670.4(EPM2A):c.974G>A (p.Arg325His)
|
rs777308612
|
0.00001
|
|
NM_006545.5(NPRL2):c.661C>T (p.Arg221Cys)
|
rs751736902
|
0.00001
|
|
NM_006922.4(SCN3A):c.2392-9A>G
|
rs199781617
|
0.00001
|
|
NM_006922.4(SCN3A):c.4640C>T (p.Thr1547Met)
|
rs762536754
|
0.00001
|
|
NM_006922.4(SCN3A):c.4G>A (p.Ala2Thr)
|
rs772128810
|
0.00001
|
|
NM_006922.4(SCN3A):c.694+3G>T
|
rs767084097
|
0.00001
|
|
NM_014141.6(CNTNAP2):c.2290C>A (p.His764Asn)
|
rs201446615
|
0.00001
|
|
NM_014141.6(CNTNAP2):c.3577G>A (p.Ala1193Thr)
|
rs751491210
|
0.00001
|
|
NM_015973.5(GAL):c.13A>G (p.Ser5Gly)
|
rs749996027
|
0.00001
|
|
NM_015973.5(GAL):c.147C>G (p.Gly49=)
|
rs1238139750
|
0.00001
|
|
NM_015973.5(GAL):c.178C>T (p.Leu60Phe)
|
rs527905700
|
0.00001
|
|
NM_015973.5(GAL):c.191G>A (p.Arg64Gln)
|
rs372372622
|
0.00001
|
|
NM_015973.5(GAL):c.263G>A (p.Arg88His)
|
rs778530092
|
0.00001
|
|
NM_015973.5(GAL):c.28G>A (p.Ala10Thr)
|
rs766211433
|
0.00001
|
|
NM_015973.5(GAL):c.309T>A (p.Gly103=)
|
rs768790714
|
0.00001
|
|
NM_015973.5(GAL):c.337G>A (p.Ala113Thr)
|
rs762637870
|
0.00001
|
|
NM_015973.5(GAL):c.340G>A (p.Ala114Thr)
|
rs540782765
|
0.00001
|
|
NM_015973.5(GAL):c.81+12G>A
|
rs1338973790
|
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.1047A>G (p.Pro349=)
|
rs1163603161
|
0.00001
|
|
NM_018100.4(EFHC1):c.1054C>T (p.Arg352Ter)
|
rs201118016
|
0.00001
|
|
NM_018100.4(EFHC1):c.1055G>A (p.Arg352Gln)
|
rs769745156
|
0.00001
|
|
NM_018100.4(EFHC1):c.1059G>A (p.Arg353=)
|
rs200024100
|
0.00001
|
|
NM_018100.4(EFHC1):c.1098del (p.Ile367fs)
|
rs1181131881
|
0.00001
|
|
NM_018100.4(EFHC1):c.1104T>C (p.Asp368=)
|
rs754355317
|
0.00001
|
|
NM_018100.4(EFHC1):c.110A>G (p.Tyr37Cys)
|
rs988250483
|
0.00001
|
|
NM_018100.4(EFHC1):c.1110C>T (p.Ser370=)
|
rs757987501
|
0.00001
|
|
NM_018100.4(EFHC1):c.1115G>A (p.Arg372Gln)
|
rs535905126
|
0.00001
|
|
NM_018100.4(EFHC1):c.1138-10G>A
|
rs764297951
|
0.00001
|
|
NM_018100.4(EFHC1):c.1182del (p.Gln395fs)
|
rs753549012
|
0.00001
|
|
NM_018100.4(EFHC1):c.1194T>C (p.Phe398=)
|
rs201946033
|
0.00001
|
|
NM_018100.4(EFHC1):c.124C>T (p.Arg42Cys)
|
rs748229072
|
0.00001
|
|
NM_018100.4(EFHC1):c.125G>A (p.Arg42His)
|
rs773598517
|
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.1288dup (p.Ile430fs)
|
rs752642262
|
0.00001
|
|
NM_018100.4(EFHC1):c.1337C>T (p.Thr446Ile)
|
rs753032457
|
0.00001
|
|
NM_018100.4(EFHC1):c.1373A>G (p.Asn458Ser)
|
rs1562462191
|
0.00001
|
|
NM_018100.4(EFHC1):c.1396T>G (p.Tyr466Asp)
|
rs373042342
|
0.00001
|
|
NM_018100.4(EFHC1):c.1409C>G (p.Thr470Ser)
|
rs201129694
|
0.00001
|
|
NM_018100.4(EFHC1):c.1443C>G (p.Asn481Lys)
|
rs186911667
|
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.1492+1G>A
|
rs191404037
|
0.00001
|
|
NM_018100.4(EFHC1):c.1547T>C (p.Met516Thr)
|
rs372520849
|
0.00001
|
|
NM_018100.4(EFHC1):c.1558G>A (p.Ala520Thr)
|
rs763313820
|
0.00001
|
|
NM_018100.4(EFHC1):c.1565A>G (p.Gln522Arg)
|
rs752066434
|
0.00001
|
|
NM_018100.4(EFHC1):c.1586C>A (p.Ala529Glu)
|
rs759944784
|
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.1612C>T (p.Arg538Ter)
|
rs149998588
|
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.1821C>T (p.Asn607=)
|
rs777238548
|
0.00001
|
|
NM_018100.4(EFHC1):c.1834G>C (p.Asp612His)
|
rs1331948538
|
0.00001
|
|
NM_018100.4(EFHC1):c.1835A>C (p.Asp612Ala)
|
rs765750690
|
0.00001
|
|
NM_018100.4(EFHC1):c.187G>A (p.Asp63Asn)
|
rs750083920
|
0.00001
|
|
NM_018100.4(EFHC1):c.1895A>G (p.Tyr632Cys)
|
rs770182350
|
0.00001
|
|
NM_018100.4(EFHC1):c.199A>G (p.Ser67Gly)
|
rs766220714
|
0.00001
|
|
NM_018100.4(EFHC1):c.22G>C (p.Gly8Arg)
|
rs200510672
|
0.00001
|
|
NM_018100.4(EFHC1):c.248C>T (p.Ala83Val)
|
rs557599173
|
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.290T>C (p.Leu97Pro)
|
rs1451023675
|
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.341A>G (p.Gln114Arg)
|
rs759050400
|
0.00001
|
|
NM_018100.4(EFHC1):c.346A>G (p.Arg116Gly)
|
rs886061627
|
0.00001
|
|
NM_018100.4(EFHC1):c.476G>A (p.Arg159Gln)
|
rs1277516532
|
0.00001
|
|
NM_018100.4(EFHC1):c.547G>A (p.Val183Ile)
|
rs769591944
|
0.00001
|
|
NM_018100.4(EFHC1):c.559G>A (p.Asp187Asn)
|
rs148615781
|
0.00001
|
|
NM_018100.4(EFHC1):c.564A>G (p.Gln188=)
|
rs766444850
|
0.00001
|
|
NM_018100.4(EFHC1):c.59C>T (p.Ser20Phe)
|
rs147882603
|
0.00001
|
|
NM_018100.4(EFHC1):c.637A>T (p.Thr213Ser)
|
rs201379297
|
0.00001
|
|
NM_018100.4(EFHC1):c.639T>C (p.Thr213=)
|
rs1249877509
|
0.00001
|
|
NM_018100.4(EFHC1):c.663dup (p.Lys222Ter)
|
rs776734177
|
0.00001
|
|
NM_018100.4(EFHC1):c.66A>G (p.Lys22=)
|
rs1286302392
|
0.00001
|
|
NM_018100.4(EFHC1):c.681A>G (p.Ser227=)
|
rs772096798
|
0.00001
|
|
NM_018100.4(EFHC1):c.68C>T (p.Thr23Ile)
|
rs779993809
|
0.00001
|
|
NM_018100.4(EFHC1):c.693A>C (p.Gln231His)
|
rs375014511
|
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.723+10A>G
|
rs754567679
|
0.00001
|
|
NM_018100.4(EFHC1):c.723G>A (p.Gln241=)
|
rs750912328
|
0.00001
|
|
NM_018100.4(EFHC1):c.761G>A (p.Ser254Asn)
|
rs144739917
|
0.00001
|
|
NM_018100.4(EFHC1):c.762C>T (p.Ser254=)
|
rs375851193
|
0.00001
|
|
NM_018100.4(EFHC1):c.789C>T (p.Ile263=)
|
rs148936911
|
0.00001
|
|
NM_018100.4(EFHC1):c.797A>G (p.Tyr266Cys)
|
rs536323609
|
0.00001
|
|
NM_018100.4(EFHC1):c.815C>T (p.Thr272Met)
|
rs143655397
|
0.00001
|
|
NM_018100.4(EFHC1):c.826C>T (p.Arg276Ter)
|
rs796052414
|
0.00001
|
|
NM_018100.4(EFHC1):c.827G>A (p.Arg276Gln)
|
rs758695181
|
0.00001
|
|
NM_018100.4(EFHC1):c.838G>A (p.Glu280Lys)
|
rs553105915
|
0.00001
|
|
NM_018100.4(EFHC1):c.841C>T (p.Arg281Trp)
|
rs1172185919
|
0.00001
|
|
NM_018100.4(EFHC1):c.854G>A (p.Arg285Lys)
|
rs17851771
|
0.00001
|
|
NM_018100.4(EFHC1):c.886C>T (p.Arg296Cys)
|
rs199814370
|
0.00001
|
|
NM_018100.4(EFHC1):c.916A>G (p.Lys306Glu)
|
rs201263733
|
0.00001
|
|
NM_018100.4(EFHC1):c.917-7A>C
|
rs1266698847
|
0.00001
|
|
NM_018100.4(EFHC1):c.946T>G (p.Ser316Ala)
|
rs144708524
|
0.00001
|
|
NM_018100.4(EFHC1):c.952C>A (p.Gln318Lys)
|
rs1452409120
|
0.00001
|
|
NM_018100.4(EFHC1):c.961T>C (p.Leu321=)
|
rs751733899
|
0.00001
|
|
NM_018723.4(RBFOX1):c.538G>A (p.Val180Met)
|
rs372761949
|
0.00001
|
|
NM_018941.4(CLN8):c.17A>G (p.Asp6Gly)
|
rs536738656
|
0.00001
|
|
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys)
|
rs386834130
|
0.00001
|
|
NM_018941.4(CLN8):c.570G>T (p.Trp190Cys)
|
rs772518654
|
0.00001
|
|
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys)
|
rs104894060
|
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_020822.3(KCNT1):c.1093C>T (p.Arg365Cys)
|
rs751116785
|
0.00001
|
|
NM_020822.3(KCNT1):c.10C>T (p.Pro4Ser)
|
rs778405770
|
0.00001
|
|
NM_020822.3(KCNT1):c.110+5A>G
|
rs768926196
|
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.1109C>T (p.Thr370Met)
|
rs1284049151
|
0.00001
|
|
NM_020822.3(KCNT1):c.111-2A>T
|
rs1382443844
|
0.00001
|
|
NM_020822.3(KCNT1):c.1113G>A (p.Glu371=)
|
rs1217096141
|
0.00001
|
|
NM_020822.3(KCNT1):c.1139C>T (p.Ser380Phe)
|
rs765193021
|
0.00001
|
|
NM_020822.3(KCNT1):c.1150G>A (p.Asp384Asn)
|
rs762752381
|
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.1210G>A (p.Val404Met)
|
rs368174673
|
0.00001
|
|
NM_020822.3(KCNT1):c.1229C>T (p.Thr410Met)
|
rs954342612
|
0.00001
|
|
NM_020822.3(KCNT1):c.1249C>T (p.Arg417Cys)
|
rs781342838
|
0.00001
|
|
NM_020822.3(KCNT1):c.1257C>G (p.Val419=)
|
rs547714141
|
0.00001
|
|
NM_020822.3(KCNT1):c.1336A>C (p.Lys446Gln)
|
rs144824627
|
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.1346A>G (p.Asn449Ser)
|
rs1336529060
|
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.1381G>C (p.Glu461Gln)
|
rs141311481
|
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.1423G>A (p.Ala475Thr)
|
rs144956052
|
0.00001
|
|
NM_020822.3(KCNT1):c.143A>T (p.Asp48Val)
|
rs762875063
|
0.00001
|
|
NM_020822.3(KCNT1):c.1444G>A (p.Ala482Thr)
|
rs577633745
|
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.1498G>A (p.Val500Ile)
|
rs778483249
|
0.00001
|
|
NM_020822.3(KCNT1):c.1511-5C>T
|
rs546333402
|
0.00001
|
|
NM_020822.3(KCNT1):c.1516G>A (p.Val506Met)
|
rs905524850
|
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.1577C>T (p.Thr526Ile)
|
rs753874335
|
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.1612C>T (p.Arg538Cys)
|
rs774588571
|
0.00001
|
|
NM_020822.3(KCNT1):c.1613G>A (p.Arg538His)
|
rs748178951
|
0.00001
|
|
NM_020822.3(KCNT1):c.1615G>A (p.Gly539Ser)
|
rs1035980360
|
0.00001
|
|
NM_020822.3(KCNT1):c.1619A>G (p.Gln540Arg)
|
rs1446587740
|
0.00001
|
|
NM_020822.3(KCNT1):c.1620-13C>T
|
rs1255165614
|
0.00001
|
|
NM_020822.3(KCNT1):c.1664G>A (p.Arg555His)
|
rs764477306
|
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.1729G>A (p.Gly577Ser)
|
rs1220099278
|
0.00001
|
|
NM_020822.3(KCNT1):c.1746C>T (p.Tyr582=)
|
rs763438119
|
0.00001
|
|
NM_020822.3(KCNT1):c.1751C>T (p.Ala584Val)
|
rs1423355423
|
0.00001
|
|
NM_020822.3(KCNT1):c.1766A>G (p.Lys589Arg)
|
rs1217094996
|
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.1797G>T (p.Lys599Asn)
|
rs762247965
|
0.00001
|
|
NM_020822.3(KCNT1):c.1812G>A (p.Lys604=)
|
rs754003723
|
0.00001
|
|
NM_020822.3(KCNT1):c.181G>A (p.Val61Met)
|
rs1337263243
|
0.00001
|
|
NM_020822.3(KCNT1):c.1834C>T (p.Pro612Ser)
|
rs1330106369
|
0.00001
|
|
NM_020822.3(KCNT1):c.1837C>T (p.Arg613Trp)
|
rs779639843
|
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.191T>G (p.Leu64Trp)
|
rs1564314603
|
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.1957C>A (p.Leu653Met)
|
rs771481255
|
0.00001
|
|
NM_020822.3(KCNT1):c.1963G>A (p.Glu655Lys)
|
rs770039542
|
0.00001
|
|
NM_020822.3(KCNT1):c.1967G>A (p.Gly656Asp)
|
rs775458154
|
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.1975C>T (p.Arg659Cys)
|
rs753599140
|
0.00001
|
|
NM_020822.3(KCNT1):c.1976G>A (p.Arg659His)
|
rs754634573
|
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.2012C>T (p.Thr671Ile)
|
rs1832838063
|
0.00001
|
|
NM_020822.3(KCNT1):c.2020A>G (p.Met674Val)
|
rs753401695
|
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.2068G>A (p.Gly690Ser)
|
rs1410497158
|
0.00001
|
|
NM_020822.3(KCNT1):c.2069G>A (p.Gly690Asp)
|
rs777827895
|
0.00001
|
|
NM_020822.3(KCNT1):c.2075G>A (p.Gly692Asp)
|
rs922840311
|
0.00001
|
|
NM_020822.3(KCNT1):c.2096C>T (p.Thr699Met)
|
rs538197009
|
0.00001
|
|
NM_020822.3(KCNT1):c.2103C>T (p.Asn701=)
|
rs375289689
|
0.00001
|
|
NM_020822.3(KCNT1):c.211C>T (p.Arg71Trp)
|
rs755348603
|
0.00001
|
|
NM_020822.3(KCNT1):c.2133G>A (p.Ala711=)
|
rs755266973
|
0.00001
|
|
NM_020822.3(KCNT1):c.2137G>A (p.Val713Ile)
|
rs945869943
|
0.00001
|
|
NM_020822.3(KCNT1):c.2174G>C (p.Cys725Ser)
|
rs756112023
|
0.00001
|
|
NM_020822.3(KCNT1):c.218T>C (p.Leu73Pro)
|
rs748537758
|
0.00001
|
|
NM_020822.3(KCNT1):c.2191C>A (p.Gln731Lys)
|
rs1437258889
|
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.2216C>T (p.Ser739Leu)
|
rs1163455129
|
0.00001
|
|
NM_020822.3(KCNT1):c.222G>T (p.Leu74=)
|
rs573574312
|
0.00001
|
|
NM_020822.3(KCNT1):c.2230C>T (p.Leu744Phe)
|
rs778897238
|
0.00001
|
|
NM_020822.3(KCNT1):c.2243+3G>A
|
rs939389547
|
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.2339G>A (p.Arg780Gln)
|
rs780759196
|
0.00001
|
|
NM_020822.3(KCNT1):c.2349+4A>G
|
rs745399878
|
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.2377G>A (p.Ala793Thr)
|
rs1466772062
|
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.2431G>A (p.Gly811Ser)
|
rs748756591
|
0.00001
|
|
NM_020822.3(KCNT1):c.2452A>G (p.Ile818Val)
|
rs1306134073
|
0.00001
|
|
NM_020822.3(KCNT1):c.2455G>A (p.Val819Met)
|
rs771284979
|
0.00001
|
|
NM_020822.3(KCNT1):c.247G>C (p.Asp83His)
|
rs774085172
|
0.00001
|
|
NM_020822.3(KCNT1):c.2483G>A (p.Arg828His)
|
rs747191095
|
0.00001
|
|
NM_020822.3(KCNT1):c.2500A>G (p.Ile834Val)
|
rs1476079719
|
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.2671G>A (p.Ala891Thr)
|
rs752835491
|
0.00001
|
|
NM_020822.3(KCNT1):c.2694C>T (p.Asp898=)
|
rs369904278
|
0.00001
|
|
NM_020822.3(KCNT1):c.2713G>A (p.Val905Met)
|
rs761134824
|
0.00001
|
|
NM_020822.3(KCNT1):c.2715G>A (p.Val905=)
|
rs771377696
|
0.00001
|
|
NM_020822.3(KCNT1):c.2728C>T (p.Arg910Trp)
|
rs1249219901
|
0.00001
|
|
NM_020822.3(KCNT1):c.2729+15C>T
|
rs200624821
|
0.00001
|
|
NM_020822.3(KCNT1):c.2729+4C>T
|
rs1044688968
|
0.00001
|
|
NM_020822.3(KCNT1):c.2729+5G>A
|
rs759836338
|
0.00001
|
|
NM_020822.3(KCNT1):c.272A>G (p.Tyr91Cys)
|
rs1049280147
|
0.00001
|
|
NM_020822.3(KCNT1):c.274G>A (p.Val92Ile)
|
rs776233220
|
0.00001
|
|
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys)
|
rs397515405
|
0.00001
|
|
NM_020822.3(KCNT1):c.2797C>T (p.Arg933Cys)
|
rs150395210
|
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.2848C>T (p.Arg950Ter)
|
rs1276883403
|
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.2881C>T (p.Arg961Cys)
|
rs1178947201
|
0.00001
|
|
NM_020822.3(KCNT1):c.2899G>A (p.Gly967Ser)
|
rs139397246
|
0.00001
|
|
NM_020822.3(KCNT1):c.2903G>A (p.Arg968His)
|
rs1325608473
|
0.00001
|
|
NM_020822.3(KCNT1):c.2904C>T (p.Arg968=)
|
rs986294962
|
0.00001
|
|
NM_020822.3(KCNT1):c.2905G>A (p.Val969Ile)
|
rs1216283172
|
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.2950G>A (p.Val984Met)
|
rs1465054757
|
0.00001
|
|
NM_020822.3(KCNT1):c.2971A>G (p.Ile991Val)
|
rs757503542
|
0.00001
|
|
NM_020822.3(KCNT1):c.2975C>T (p.Thr992Ile)
|
rs1032036573
|
0.00001
|
|
NM_020822.3(KCNT1):c.2977C>T (p.Arg993Trp)
|
rs368252006
|
0.00001
|
|
NM_020822.3(KCNT1):c.2997C>T (p.Asp999=)
|
rs771951768
|
0.00001
|
|
NM_020822.3(KCNT1):c.299G>A (p.Arg100Gln)
|
rs752032951
|
0.00001
|
|
NM_020822.3(KCNT1):c.3000C>T (p.Thr1000=)
|
rs1209287528
|
0.00001
|
|
NM_020822.3(KCNT1):c.3002C>T (p.Thr1001Met)
|
rs372775166
|
0.00001
|
|
NM_020822.3(KCNT1):c.3005C>T (p.Pro1002Leu)
|
rs763585049
|
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.3027+1G>A
|
rs756311140
|
0.00001
|
|
NM_020822.3(KCNT1):c.3027C>T (p.Ala1009=)
|
rs371694148
|
0.00001
|
|
NM_020822.3(KCNT1):c.3028-16G>A
|
rs1236949709
|
0.00001
|
|
NM_020822.3(KCNT1):c.3046G>A (p.Asp1016Asn)
|
rs779908455
|
0.00001
|
|
NM_020822.3(KCNT1):c.3048C>T (p.Asp1016=)
|
rs748942066
|
0.00001
|
|
NM_020822.3(KCNT1):c.3050T>G (p.Leu1017Arg)
|
rs1450164108
|
0.00001
|
|
NM_020822.3(KCNT1):c.3067G>A (p.Gly1023Ser)
|
rs754128567
|
0.00001
|
|
NM_020822.3(KCNT1):c.3070C>T (p.Arg1024Cys)
|
rs554853844
|
0.00001
|
|
NM_020822.3(KCNT1):c.3071G>A (p.Arg1024His)
|
rs765283220
|
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.3100G>A (p.Ala1034Thr)
|
rs779961735
|
0.00001
|
|
NM_020822.3(KCNT1):c.3103G>A (p.Glu1035Lys)
|
rs748937639
|
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.3125G>A (p.Arg1042Gln)
|
rs763578184
|
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.3197T>C (p.Val1066Ala)
|
rs1554780631
|
0.00001
|
|
NM_020822.3(KCNT1):c.31G>A (p.Gly11Arg)
|
rs775548158
|
0.00001
|
|
NM_020822.3(KCNT1):c.3223G>A (p.Val1075Met)
|
rs771889785
|
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.3284G>A (p.Gly1095Asp)
|
rs1206215512
|
0.00001
|
|
NM_020822.3(KCNT1):c.3310C>G (p.Leu1104Val)
|
rs996610690
|
0.00001
|
|
NM_020822.3(KCNT1):c.3319C>T (p.Arg1107Cys)
|
rs750627411
|
0.00001
|
|
NM_020822.3(KCNT1):c.3322A>G (p.Lys1108Glu)
|
rs1358295612
|
0.00001
|
|
NM_020822.3(KCNT1):c.3353G>A (p.Arg1118His)
|
rs1055618053
|
0.00001
|
|
NM_020822.3(KCNT1):c.3360G>A (p.Ala1120=)
|
rs768977873
|
0.00001
|
|
NM_020822.3(KCNT1):c.3371C>T (p.Ala1124Val)
|
rs1381344367
|
0.00001
|
|
NM_020822.3(KCNT1):c.3400A>G (p.Ser1134Gly)
|
rs1332070255
|
0.00001
|
|
NM_020822.3(KCNT1):c.3425G>A (p.Arg1142Gln)
|
rs773520283
|
0.00001
|
|
NM_020822.3(KCNT1):c.3431C>G (p.Ser1144Cys)
|
rs766557144
|
0.00001
|
|
NM_020822.3(KCNT1):c.3435G>A (p.Glu1145=)
|
rs1373486252
|
0.00001
|
|
NM_020822.3(KCNT1):c.3445C>T (p.Leu1149Phe)
|
rs1177972273
|
0.00001
|
|
NM_020822.3(KCNT1):c.3460A>C (p.Lys1154Gln)
|
rs750176430
|
0.00001
|
|
NM_020822.3(KCNT1):c.346C>T (p.Arg116Trp)
|
rs1588309625
|
0.00001
|
|
NM_020822.3(KCNT1):c.347G>A (p.Arg116Gln)
|
rs748873120
|
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.3502+2dup
|
rs1336283260
|
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.3503-17G>A
|
rs761613092
|
0.00001
|
|
NM_020822.3(KCNT1):c.3508A>G (p.Met1170Val)
|
rs1834554393
|
0.00001
|
|
NM_020822.3(KCNT1):c.3517C>T (p.His1173Tyr)
|
rs1450163574
|
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.3571G>A (p.Glu1191Lys)
|
rs1292390745
|
0.00001
|
|
NM_020822.3(KCNT1):c.3582C>T (p.Asp1194=)
|
rs1375394882
|
0.00001
|
|
NM_020822.3(KCNT1):c.3586G>A (p.Val1196Ile)
|
rs1171803758
|
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.3616C>T (p.His1206Tyr)
|
rs759561558
|
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.3651C>G (p.Ser1217Arg)
|
rs756986311
|
0.00001
|
|
NM_020822.3(KCNT1):c.3660C>G (p.His1220Gln)
|
rs868847760
|
0.00001
|
|
NM_020822.3(KCNT1):c.3664C>T (p.Leu1222=)
|
rs755694160
|
0.00001
|
|
NM_020822.3(KCNT1):c.3668C>T (p.Ser1223Leu)
|
rs779379200
|
0.00001
|
|
NM_020822.3(KCNT1):c.3691G>A (p.Asp1231Asn)
|
rs146193090
|
0.00001
|
|
NM_020822.3(KCNT1):c.3693C>T (p.Asp1231=)
|
rs758617654
|
0.00001
|
|
NM_020822.3(KCNT1):c.3708A>C (p.Ter1236Cys)
|
rs1459930316
|
0.00001
|
|
NM_020822.3(KCNT1):c.398G>A (p.Arg133His)
|
rs201295824
|
0.00001
|
|
NM_020822.3(KCNT1):c.400G>A (p.Val134Ile)
|
rs766663683
|
0.00001
|
|
NM_020822.3(KCNT1):c.41G>C (p.Cys14Ser)
|
rs750374521
|
0.00001
|
|
NM_020822.3(KCNT1):c.425G>T (p.Gly142Val)
|
rs1831131534
|
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.473C>T (p.Ser158Leu)
|
rs751075368
|
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.494C>T (p.Ala165Val)
|
rs1359744304
|
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.52C>T (p.Arg18Cys)
|
rs1238224961
|
0.00001
|
|
NM_020822.3(KCNT1):c.546C>T (p.Ile182=)
|
rs778118549
|
0.00001
|
|
NM_020822.3(KCNT1):c.547G>A (p.Val183Met)
|
rs751729308
|
0.00001
|
|
NM_020822.3(KCNT1):c.550G>T (p.Ala184Ser)
|
rs757371759
|
0.00001
|
|
NM_020822.3(KCNT1):c.55G>A (p.Gly19Ser)
|
rs778657830
|
0.00001
|
|
NM_020822.3(KCNT1):c.566T>C (p.Leu189Pro)
|
rs749194581
|
0.00001
|
|
NM_020822.3(KCNT1):c.567G>A (p.Leu189=)
|
rs372998864
|
0.00001
|
|
NM_020822.3(KCNT1):c.600+5G>A
|
rs770367654
|
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.730C>T (p.Leu244=)
|
rs376096546
|
0.00001
|
|
NM_020822.3(KCNT1):c.73C>T (p.Arg25Trp)
|
rs775807509
|
0.00001
|
|
NM_020822.3(KCNT1):c.741C>T (p.His247=)
|
rs1218041775
|
0.00001
|
|
NM_020822.3(KCNT1):c.754A>C (p.Met252Leu)
|
rs755782470
|
0.00001
|
|
NM_020822.3(KCNT1):c.759+11G>A
|
rs1376011545
|
0.00001
|
|
NM_020822.3(KCNT1):c.759+6C>T
|
rs1057522462
|
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.784C>T (p.Arg262Trp)
|
rs375711140
|
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_020822.3(KCNT1):c.928G>A (p.Val310Ile)
|
rs149436191
|
0.00001
|
|
NM_020822.3(KCNT1):c.984G>C (p.Gln328His)
|
rs1289554527
|
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.1030C>G (p.Leu344Val)
|
rs1488082332
|
0.00001
|
|
NM_021267.5(CERS1):c.1032G>A (p.Leu344=)
|
rs1015891977
|
0.00001
|
|
NM_021267.5(CERS1):c.158C>T (p.Ala53Val)
|
rs2056615240
|
0.00001
|
|
NM_021267.5(CERS1):c.180G>A (p.Leu60=)
|
rs1231005112
|
0.00001
|
|
NM_021267.5(CERS1):c.23C>G (p.Ala8Gly)
|
rs1568309719
|
0.00001
|
|
NM_021267.5(CERS1):c.244T>C (p.Phe82Leu)
|
rs977068016
|
0.00001
|
|
NM_021267.5(CERS1):c.252C>T (p.Pro84=)
|
rs765754803
|
0.00001
|
|
NM_021267.5(CERS1):c.263G>A (p.Arg88Gln)
|
rs370175943
|
0.00001
|
|
NM_021267.5(CERS1):c.273C>G (p.Leu91=)
|
rs768644742
|
0.00001
|
|
NM_021267.5(CERS1):c.305G>A (p.Ser102Asn)
|
rs748527035
|
0.00001
|
|
NM_021267.5(CERS1):c.306C>T (p.Ser102=)
|
rs779359438
|
0.00001
|
|
NM_021267.5(CERS1):c.408C>T (p.Tyr136=)
|
rs779362030
|
0.00001
|
|
NM_021267.5(CERS1):c.410-6C>T
|
rs932231463
|
0.00001
|
|
NM_021267.5(CERS1):c.432G>A (p.Val144=)
|
rs1243530086
|
0.00001
|
|
NM_021267.5(CERS1):c.436C>T (p.Arg146Trp)
|
rs913223329
|
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.559C>G (p.Leu187Val)
|
rs772627907
|
0.00001
|
|
NM_021267.5(CERS1):c.571G>A (p.Val191Ile)
|
rs768421620
|
0.00001
|
|
NM_021267.5(CERS1):c.590+15G>A
|
rs760913694
|
0.00001
|
|
NM_021267.5(CERS1):c.590+3A>T
|
rs752762244
|
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.689G>C (p.Gly230Ala)
|
rs755440386
|
0.00001
|
|
NM_021267.5(CERS1):c.68T>C (p.Val23Ala)
|
rs1359065344
|
0.00001
|
|
NM_021267.5(CERS1):c.698A>G (p.His233Arg)
|
rs2056172422
|
0.00001
|
|
NM_021267.5(CERS1):c.732C>T (p.Cys244=)
|
rs774860884
|
0.00001
|
|
NM_021267.5(CERS1):c.763C>T (p.Arg255Cys)
|
rs1375601977
|
0.00001
|
|
NM_021267.5(CERS1):c.779C>T (p.Pro260Leu)
|
rs759055660
|
0.00001
|
|
NM_021267.5(CERS1):c.780G>A (p.Pro260=)
|
rs765999204
|
0.00001
|
|
NM_021267.5(CERS1):c.785A>G (p.Lys262Arg)
|
rs1159373768
|
0.00001
|
|
NM_021267.5(CERS1):c.798C>T (p.Ala266=)
|
rs978085666
|
0.00001
|
|
NM_021267.5(CERS1):c.818G>A (p.Arg273His)
|
rs775672669
|
0.00001
|
|
NM_021267.5(CERS1):c.830A>C (p.Asp277Ala)
|
rs1283919339
|
0.00001
|
|
NM_021267.5(CERS1):c.845T>A (p.Phe282Tyr)
|
rs775383045
|
0.00001
|
|
NM_021267.5(CERS1):c.89C>T (p.Ala30Val)
|
rs1045601115
|
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_021267.5(CERS1):c.974C>T (p.Thr325Ile)
|
rs1696944643
|
0.00001
|
|
NM_032108.4(SEMA6B):c.2111C>T (p.Ser704Leu)
|
rs918065842
|
0.00001
|
|
NM_032108.4(SEMA6B):c.743T>C (p.Ile248Thr)
|
rs1192861122
|
0.00001
|
|
NM_032737.4(LMNB2):c.1012C>A (p.Leu338Met)
|
rs1467066751
|
0.00001
|
|
NM_032737.4(LMNB2):c.1035G>T (p.Glu345Asp)
|
rs373940127
|
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.1091G>A (p.Arg364Gln)
|
rs767615829
|
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.1202+5G>A
|
rs753219694
|
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.1240G>A (p.Val414Ile)
|
rs771541316
|
0.00001
|
|
NM_032737.4(LMNB2):c.1248A>G (p.Arg416=)
|
rs1168297824
|
0.00001
|
|
NM_032737.4(LMNB2):c.1253C>T (p.Thr418Ile)
|
rs532971889
|
0.00001
|
|
NM_032737.4(LMNB2):c.1289G>A (p.Arg430His)
|
rs555606326
|
0.00001
|
|
NM_032737.4(LMNB2):c.1297C>T (p.Arg433Cys)
|
rs773783967
|
0.00001
|
|
NM_032737.4(LMNB2):c.1339A>G (p.Ser447Gly)
|
rs1337959401
|
0.00001
|
|
NM_032737.4(LMNB2):c.1350C>T (p.Ser450=)
|
rs765785713
|
0.00001
|
|
NM_032737.4(LMNB2):c.1412C>T (p.Ser471Leu)
|
rs761548544
|
0.00001
|
|
NM_032737.4(LMNB2):c.1434G>T (p.Glu478Asp)
|
rs1317586350
|
0.00001
|
|
NM_032737.4(LMNB2):c.1465A>C (p.Lys489Gln)
|
rs1399119743
|
0.00001
|
|
NM_032737.4(LMNB2):c.1475C>T (p.Ser492Leu)
|
rs779868941
|
0.00001
|
|
NM_032737.4(LMNB2):c.147G>C (p.Glu49Asp)
|
rs1302429423
|
0.00001
|
|
NM_032737.4(LMNB2):c.1481A>C (p.Lys494Thr)
|
rs563268222
|
0.00001
|
|
NM_032737.4(LMNB2):c.1482+12G>C
|
rs753579762
|
0.00001
|
|
NM_032737.4(LMNB2):c.1482+20C>T
|
rs763504322
|
0.00001
|
|
NM_032737.4(LMNB2):c.1515G>T (p.Arg505Ser)
|
rs1971753890
|
0.00001
|
|
NM_032737.4(LMNB2):c.1528G>C (p.Gly510Arg)
|
rs779010033
|
0.00001
|
|
NM_032737.4(LMNB2):c.1570C>T (p.Arg524Cys)
|
rs201055797
|
0.00001
|
|
NM_032737.4(LMNB2):c.1571G>A (p.Arg524His)
|
rs953502420
|
0.00001
|
|
NM_032737.4(LMNB2):c.1597G>A (p.Ala533Thr)
|
rs779286652
|
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.1777G>C (p.Glu593Gln)
|
rs375038177
|
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.23G>A (p.Arg8His)
|
rs942561547
|
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.26G>A (p.Arg9His)
|
rs1972098298
|
0.00001
|
|
NM_032737.4(LMNB2):c.273C>T (p.Gly91=)
|
rs1163719792
|
0.00001
|
|
NM_032737.4(LMNB2):c.29G>C (p.Arg10Pro)
|
rs984068789
|
0.00001
|
|
NM_032737.4(LMNB2):c.340C>T (p.Arg114Cys)
|
rs375451196
|
0.00001
|
|
NM_032737.4(LMNB2):c.342T>C (p.Arg114=)
|
rs771838704
|
0.00001
|
|
NM_032737.4(LMNB2):c.344C>G (p.Ala115Gly)
|
rs1474895568
|
0.00001
|
|
NM_032737.4(LMNB2):c.347G>A (p.Arg116Gln)
|
rs370820384
|
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.388G>A (p.Glu130Lys)
|
rs755832231
|
0.00001
|
|
NM_032737.4(LMNB2):c.442C>T (p.Arg148Cys)
|
rs369668021
|
0.00001
|
|
NM_032737.4(LMNB2):c.454C>A (p.Leu152Met)
|
rs1158079562
|
0.00001
|
|
NM_032737.4(LMNB2):c.472C>T (p.Arg158Trp)
|
rs1410022707
|
0.00001
|
|
NM_032737.4(LMNB2):c.473G>A (p.Arg158Gln)
|
rs375613243
|
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.541C>T (p.Arg181Trp)
|
rs1204917895
|
0.00001
|
|
NM_032737.4(LMNB2):c.557A>T (p.Lys186Met)
|
rs1331367506
|
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.575C>T (p.Ala192Val)
|
rs1389587109
|
0.00001
|
|
NM_032737.4(LMNB2):c.596A>G (p.Glu199Gly)
|
rs146647837
|
0.00001
|
|
NM_032737.4(LMNB2):c.597G>A (p.Glu199=)
|
rs186368809
|
0.00001
|
|
NM_032737.4(LMNB2):c.614G>A (p.Arg205His)
|
rs767067963
|
0.00001
|
|
NM_032737.4(LMNB2):c.618G>A (p.Val206=)
|
rs774098624
|
0.00001
|
|
NM_032737.4(LMNB2):c.624G>A (p.Leu208=)
|
rs1305321896
|
0.00001
|
|
NM_032737.4(LMNB2):c.632G>T (p.Arg211Leu)
|
rs765666579
|
0.00001
|
|
NM_032737.4(LMNB2):c.665G>A (p.Arg222Gln)
|
rs747514243
|
0.00001
|
|
NM_032737.4(LMNB2):c.685-4G>A
|
rs748128658
|
0.00001
|
|
NM_032737.4(LMNB2):c.691C>T (p.Arg231Trp)
|
rs760267703
|
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.743G>A (p.Arg248Gln)
|
rs201250275
|
0.00001
|
|
NM_032737.4(LMNB2):c.807G>C (p.Glu269Asp)
|
rs369384125
|
0.00001
|
|
NM_032737.4(LMNB2):c.842C>T (p.Thr281Ile)
|
rs1211211815
|
0.00001
|
|
NM_032737.4(LMNB2):c.855+15C>T
|
rs371996134
|
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.889G>A (p.Asp297Asn)
|
rs776112679
|
0.00001
|
|
NM_032737.4(LMNB2):c.891C>G (p.Asp297Glu)
|
rs768380280
|
0.00001
|
|
NM_032737.4(LMNB2):c.896C>T (p.Ala299Val)
|
rs764892106
|
0.00001
|
|
NM_032737.4(LMNB2):c.940C>A (p.Leu314Met)
|
rs1971799683
|
0.00001
|
|
NM_032737.4(LMNB2):c.965C>T (p.Ser322Phe)
|
rs760403121
|
0.00001
|
|
NM_032737.4(LMNB2):c.981+15G>A
|
rs1287788426
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.100G>A (p.Ala34Thr)
|
rs781255236
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1012A>G (p.Lys338Glu)
|
rs1328763941
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1021C>T (p.Arg341Trp)
|
rs759164554
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1022G>A (p.Arg341Gln)
|
rs577174749
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1058C>T (p.Ser353Leu)
|
rs1454994864
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1103A>G (p.Asp368Gly)
|
rs747305137
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1107C>T (p.Asp369=)
|
rs1285254189
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1118G>A (p.Arg373Gln)
|
rs1254082305
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1165A>G (p.Ser389Gly)
|
rs1466958238
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1176T>C (p.Phe392=)
|
rs571386763
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1194G>T (p.Glu398Asp)
|
rs1938024539
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1208A>G (p.Glu403Gly)
|
rs367941464
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1225G>A (p.Ala409Thr)
|
rs774422189
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.124C>T (p.Pro42Ser)
|
rs758787019
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1284T>C (p.Phe428=)
|
rs183742526
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1299T>G (p.Asn433Lys)
|
rs779594296
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1341C>T (p.Asn447=)
|
rs759563559
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1342A>T (p.Met448Leu)
|
rs776727562
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1393A>G (p.Lys465Glu)
|
rs780931107
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1406C>G (p.Ser469Cys)
|
rs751326939
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1435G>A (p.Gly479Arg)
|
rs570770626
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1438C>G (p.Leu480Val)
|
rs552840971
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1444G>A (p.Asp482Asn)
|
rs1555229983
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1449T>C (p.Ser483=)
|
rs760731193
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1477A>C (p.Ser493Arg)
|
rs547914367
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1497A>G (p.Glu499=)
|
rs774825872
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1505T>G (p.Leu502Arg)
|
rs768870075
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1511A>G (p.His504Arg)
|
rs201054946
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1516G>A (p.Ala506Thr)
|
rs796052932
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1568G>A (p.Cys523Tyr)
|
rs1265886356
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1607C>T (p.Ser536Leu)
|
rs150766064
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1609A>G (p.Met537Val)
|
rs1437950772
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1631A>G (p.Asn544Ser)
|
rs1361111517
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1639+15G>T
|
rs778854960
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1639+5G>A
|
rs201450953
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.163G>A (p.Glu55Lys)
|
rs1938269718
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1640-7C>T
|
rs1555229472
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1681T>C (p.Tyr561His)
|
rs1232951000
|
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.1919A>G (p.Asn640Ser)
|
rs139937830
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1922G>A (p.Gly641Glu)
|
rs374621616
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1953G>C (p.Pro651=)
|
rs766992928
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1954A>G (p.Met652Val)
|
rs1194478107
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.1977C>T (p.Arg659=)
|
rs1405666356
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.2021G>C (p.Arg674Pro)
|
rs748173327
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.2024G>A (p.Arg675His)
|
rs1233536174
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.2045G>A (p.Arg682His)
|
rs189093086
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.2120A>G (p.Asp707Gly)
|
rs1937758569
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.2155C>T (p.Arg719Trp)
|
rs746199700
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.2156G>A (p.Arg719Gln)
|
rs779059953
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.2175C>G (p.Ile725Met)
|
rs1555229265
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.2178G>A (p.Gln726=)
|
rs1332245067
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.2192A>G (p.Tyr731Cys)
|
rs567656128
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.2249G>A (p.Arg750Gln)
|
rs1323129125
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.2276A>G (p.Asp759Gly)
|
rs778196919
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.2311G>A (p.Asp771Asn)
|
rs146670726
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.2359C>T (p.Arg787Trp)
|
rs765199745
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.241A>C (p.Asn81His)
|
rs796052934
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.2422C>A (p.Pro808Thr)
|
rs780823369
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.2431G>A (p.Gly811Ser)
|
rs751446088
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.2446A>G (p.Lys816Glu)
|
rs1304426627
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.2465G>T (p.Gly822Val)
|
rs1371533275
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.2472G>A (p.Lys824=)
|
rs1937730741
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.251G>A (p.Arg84Gln)
|
rs766439768
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.276G>A (p.Glu92=)
|
rs1555230725
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.320A>C (p.Glu107Ala)
|
rs201983132
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.352T>C (p.Ser118Pro)
|
rs755590703
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.356G>C (p.Arg119Thr)
|
rs961991320
|
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.400A>C (p.Asn134His)
|
rs200558941
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.423C>T (p.Phe141=)
|
rs746728526
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.428C>T (p.Ser143Phe)
|
rs758143303
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.43G>A (p.Gly15Ser)
|
rs1258793726
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.445G>A (p.Val149Met)
|
rs751791144
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.479C>T (p.Thr160Met)
|
rs777277493
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.50A>C (p.Gln17Pro)
|
rs771838146
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.601G>A (p.Asp201Asn)
|
rs1300341380
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.604G>A (p.Glu202Lys)
|
rs1486749442
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.641A>C (p.Lys214Thr)
|
rs1178731670
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.656T>C (p.Leu219Pro)
|
rs1469737110
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.668C>T (p.Thr223Met)
|
rs754218148
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.669G>A (p.Thr223=)
|
rs201394996
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.699G>T (p.Lys233Asn)
|
rs1443820017
|
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.739T>C (p.Tyr247His)
|
rs780974681
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.778G>A (p.Val260Met)
|
rs1199665357
|
0.00001
|
|
NM_153026.3(PRICKLE1):c.857C>A (p.Ala286Asp)
|
rs1361958779
|
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.*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.107C>T (p.Thr36Met)
|
rs773209854
|
0.00001
|
|
NM_153033.5(KCTD7):c.121G>C (p.Ala41Pro)
|
rs766856368
|
0.00001
|
|
NM_153033.5(KCTD7):c.141G>C (p.Gln47His)
|
rs753563583
|
0.00001
|
|
NM_153033.5(KCTD7):c.144+19G>A
|
rs998736066
|
0.00001
|
|
NM_153033.5(KCTD7):c.144+4C>G
|
rs757018925
|
0.00001
|
|
NM_153033.5(KCTD7):c.15G>C (p.Thr5=)
|
rs1410806588
|
0.00001
|
|
NM_153033.5(KCTD7):c.172G>A (p.Gly58Arg)
|
rs750033880
|
0.00001
|
|
NM_153033.5(KCTD7):c.181C>T (p.His61Tyr)
|
rs368018261
|
0.00001
|
|
NM_153033.5(KCTD7):c.182A>G (p.His61Arg)
|
rs529063727
|
0.00001
|
|
NM_153033.5(KCTD7):c.209G>A (p.Arg70Gln)
|
rs749483829
|
0.00001
|
|
NM_153033.5(KCTD7):c.22G>A (p.Glu8Lys)
|
rs1308286439
|
0.00001
|
|
NM_153033.5(KCTD7):c.239T>C (p.Met80Thr)
|
rs202167686
|
0.00001
|
|
NM_153033.5(KCTD7):c.250C>T (p.Arg84Trp)
|
rs754476100
|
0.00001
|
|
NM_153033.5(KCTD7):c.257A>G (p.Tyr86Cys)
|
rs188483031
|
0.00001
|
|
NM_153033.5(KCTD7):c.258C>T (p.Tyr86=)
|
rs749010969
|
0.00001
|
|
NM_153033.5(KCTD7):c.259A>G (p.Ile87Val)
|
rs1182254636
|
0.00001
|
|
NM_153033.5(KCTD7):c.264C>T (p.Pro88=)
|
rs985251877
|
0.00001
|
|
NM_153033.5(KCTD7):c.274G>A (p.Glu92Lys)
|
rs780710316
|
0.00001
|
|
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp)
|
rs387907260
|
0.00001
|
|
NM_153033.5(KCTD7):c.281G>A (p.Arg94Gln)
|
rs984651812
|
0.00001
|
|
NM_153033.5(KCTD7):c.334C>T (p.Arg112Cys)
|
rs769991459
|
0.00001
|
|
NM_153033.5(KCTD7):c.342G>A (p.Gly114=)
|
rs145152329
|
0.00001
|
|
NM_153033.5(KCTD7):c.35G>C (p.Arg12Pro)
|
rs763423181
|
0.00001
|
|
NM_153033.5(KCTD7):c.380A>G (p.Lys127Arg)
|
rs765083971
|
0.00001
|
|
NM_153033.5(KCTD7):c.402C>T (p.Ile134=)
|
rs754958440
|
0.00001
|
|
NM_153033.5(KCTD7):c.403G>A (p.Gly135Arg)
|
rs781725855
|
0.00001
|
|
NM_153033.5(KCTD7):c.422_424dup (p.Leu141_Glu142insVal)
|
rs747385800
|
0.00001
|
|
NM_153033.5(KCTD7):c.444G>T (p.Lys148Asn)
|
rs746540809
|
0.00001
|
|
NM_153033.5(KCTD7):c.447C>T (p.Gly149=)
|
rs767984903
|
0.00001
|
|
NM_153033.5(KCTD7):c.456G>A (p.Val152=)
|
rs796052686
|
0.00001
|
|
NM_153033.5(KCTD7):c.494-3T>C
|
rs1786646567
|
0.00001
|
|
NM_153033.5(KCTD7):c.524G>A (p.Arg175Gln)
|
rs758709078
|
0.00001
|
|
NM_153033.5(KCTD7):c.530G>A (p.Arg177His)
|
rs1469857830
|
0.00001
|
|
NM_153033.5(KCTD7):c.533C>T (p.Ala178Val)
|
rs368001837
|
0.00001
|
|
NM_153033.5(KCTD7):c.541C>T (p.Arg181Trp)
|
rs750770298
|
0.00001
|
|
NM_153033.5(KCTD7):c.542G>A (p.Arg181Gln)
|
rs754654827
|
0.00001
|
|
NM_153033.5(KCTD7):c.550C>T (p.Arg184Cys)
|
rs387907246
|
0.00001
|
|
NM_153033.5(KCTD7):c.551G>A (p.Arg184His)
|
rs747676224
|
0.00001
|
|
NM_153033.5(KCTD7):c.602C>G (p.Pro201Arg)
|
rs774050685
|
0.00001
|
|
NM_153033.5(KCTD7):c.61T>G (p.Ser21Ala)
|
rs753471689
|
0.00001
|
|
NM_153033.5(KCTD7):c.623A>G (p.Asn208Ser)
|
rs762356641
|
0.00001
|
|
NM_153033.5(KCTD7):c.632G>T (p.Arg211Leu)
|
rs376332394
|
0.00001
|
|
NM_153033.5(KCTD7):c.640C>T (p.Arg214Trp)
|
rs755711171
|
0.00001
|
|
NM_153033.5(KCTD7):c.641G>A (p.Arg214Gln)
|
rs1362697719
|
0.00001
|
|
NM_153033.5(KCTD7):c.68C>T (p.Ala23Val)
|
rs745360140
|
0.00001
|
|
NM_153033.5(KCTD7):c.750G>A (p.Thr250=)
|
rs374256335
|
0.00001
|
|
NM_153033.5(KCTD7):c.763C>G (p.Gln255Glu)
|
rs766720725
|
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.827A>G (p.Tyr276Cys)
|
rs141191660
|
0.00001
|
|
NM_153033.5(KCTD7):c.861A>G (p.Thr287=)
|
rs367591875
|
0.00001
|
|
NM_153033.5(KCTD7):c.89C>T (p.Pro30Leu)
|
rs890695139
|
0.00001
|
|
NM_178013.4(PRIMA1):c.11G>A (p.Arg4Gln)
|
rs924313155
|
0.00001
|
|
NM_178013.4(PRIMA1):c.13G>A (p.Asp5Asn)
|
rs1457017587
|
0.00001
|
|
NM_178013.4(PRIMA1):c.230-20G>C
|
rs777667290
|
0.00001
|
|
NM_178013.4(PRIMA1):c.236A>G (p.Asn79Ser)
|
rs1000407112
|
0.00001
|
|
NM_178013.4(PRIMA1):c.272C>G (p.Ser91Trp)
|
rs1461678706
|
0.00001
|
|
NM_178013.4(PRIMA1):c.273G>A (p.Ser91=)
|
rs751699834
|
0.00001
|
|
NM_178013.4(PRIMA1):c.341G>A (p.Cys114Tyr)
|
rs1244257411
|
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.364C>T (p.Pro122Ser)
|
rs1434626074
|
0.00001
|
|
NM_178013.4(PRIMA1):c.379G>A (p.Glu127Lys)
|
rs141491542
|
0.00001
|
|
NM_178013.4(PRIMA1):c.394G>A (p.Val132Ile)
|
rs761493685
|
0.00001
|
|
NM_178013.4(PRIMA1):c.426C>G (p.Ser142Arg)
|
rs370561739
|
0.00001
|
|
NM_178013.4(PRIMA1):c.451G>A (p.Ala151Thr)
|
rs200782279
|
0.00001
|
|
NM_178013.4(PRIMA1):c.455T>C (p.Val152Ala)
|
rs1363990084
|
0.00001
|
|
NM_178013.4(PRIMA1):c.8T>C (p.Leu3Pro)
|
rs1365665298
|
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_178013.4(PRIMA1):c.94-10A>G
|
rs1885316450
|
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.1013C>T (p.Thr338Ile)
|
rs1388505858
|
0.00001
|
|
NM_198586.3(NHLRC1):c.1053G>C (p.Glu351Asp)
|
rs377395116
|
0.00001
|
|
NM_198586.3(NHLRC1):c.1058C>T (p.Pro353Leu)
|
rs1440601226
|
0.00001
|
|
NM_198586.3(NHLRC1):c.1065G>A (p.Pro355=)
|
rs752799460
|
0.00001
|
|
NM_198586.3(NHLRC1):c.1076T>A (p.Val359Asp)
|
rs372993582
|
0.00001
|
|
NM_198586.3(NHLRC1):c.1132C>G (p.Leu378Val)
|
rs778364234
|
0.00001
|
|
NM_198586.3(NHLRC1):c.1137G>T (p.Val379=)
|
rs1179677260
|
0.00001
|
|
NM_198586.3(NHLRC1):c.1165G>T (p.Val389Phe)
|
rs541460675
|
0.00001
|
|
NM_198586.3(NHLRC1):c.1166T>A (p.Val389Asp)
|
rs562100142
|
0.00001
|
|
NM_198586.3(NHLRC1):c.204C>A (p.Cys68Ter)
|
rs769144119
|
0.00001
|
|
NM_198586.3(NHLRC1):c.207A>G (p.Pro69=)
|
rs778080945
|
0.00001
|
|
NM_198586.3(NHLRC1):c.218G>A (p.Arg73Gln)
|
rs1280991443
|
0.00001
|
|
NM_198586.3(NHLRC1):c.243C>A (p.Ser81Arg)
|
rs1174745955
|
0.00001
|
|
NM_198586.3(NHLRC1):c.24C>T (p.Ser8=)
|
rs763202331
|
0.00001
|
|
NM_198586.3(NHLRC1):c.254C>G (p.Pro85Arg)
|
rs371218834
|
0.00001
|
|
NM_198586.3(NHLRC1):c.285A>G (p.Ser95=)
|
rs1057521817
|
0.00001
|
|
NM_198586.3(NHLRC1):c.307G>T (p.Ala103Ser)
|
rs568131096
|
0.00001
|
|
NM_198586.3(NHLRC1):c.313C>A (p.Arg105Ser)
|
rs909097062
|
0.00001
|
|
NM_198586.3(NHLRC1):c.322C>T (p.Pro108Ser)
|
rs1467326281
|
0.00001
|
|
NM_198586.3(NHLRC1):c.374C>A (p.Thr125Asn)
|
rs1085307861
|
0.00001
|
|
NM_198586.3(NHLRC1):c.386C>A (p.Pro129His)
|
rs750465793
|
0.00001
|
|
NM_198586.3(NHLRC1):c.389C>A (p.Thr130Asn)
|
rs1294825458
|
0.00001
|
|
NM_198586.3(NHLRC1):c.393A>C (p.Gly131=)
|
rs1280323559
|
0.00001
|
|
NM_198586.3(NHLRC1):c.415G>A (p.Gly139Arg)
|
rs1783749311
|
0.00001
|
|
NM_198586.3(NHLRC1):c.418C>T (p.Arg140Cys)
|
rs148035405
|
0.00001
|
|
NM_198586.3(NHLRC1):c.48G>A (p.Met16Ile)
|
rs1233490914
|
0.00001
|
|
NM_198586.3(NHLRC1):c.49C>A (p.Arg17Ser)
|
rs368134036
|
0.00001
|
|
NM_198586.3(NHLRC1):c.504G>T (p.Gly168=)
|
rs529490452
|
0.00001
|
|
NM_198586.3(NHLRC1):c.528C>T (p.Tyr176=)
|
rs1403101337
|
0.00001
|
|
NM_198586.3(NHLRC1):c.52G>C (p.Glu18Gln)
|
rs771805307
|
0.00001
|
|
NM_198586.3(NHLRC1):c.582C>T (p.Gly194=)
|
rs1258101648
|
0.00001
|
|
NM_198586.3(NHLRC1):c.584A>G (p.Asp195Gly)
|
rs367649330
|
0.00001
|
|
NM_198586.3(NHLRC1):c.599T>C (p.Val200Ala)
|
rs746239356
|
0.00001
|
|
NM_198586.3(NHLRC1):c.5C>A (p.Ala2Glu)
|
rs963295265
|
0.00001
|
|
NM_198586.3(NHLRC1):c.612T>G (p.Phe204Leu)
|
rs201058506
|
0.00001
|
|
NM_198586.3(NHLRC1):c.659G>A (p.Gly220Asp)
|
rs1449381352
|
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.713C>G (p.Ser238Cys)
|
rs747276703
|
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.755G>A (p.Arg252Gln)
|
rs371072212
|
0.00001
|
|
NM_198586.3(NHLRC1):c.76T>A (p.Cys26Ser)
|
rs28940575
|
0.00001
|
|
NM_198586.3(NHLRC1):c.773A>G (p.Gln258Arg)
|
rs377025668
|
0.00001
|
|
NM_198586.3(NHLRC1):c.782T>C (p.Leu261Pro)
|
rs879745047
|
0.00001
|
|
NM_198586.3(NHLRC1):c.787A>C (p.Asn263His)
|
rs749287999
|
0.00001
|
|
NM_198586.3(NHLRC1):c.791C>G (p.Pro264Arg)
|
rs796052756
|
0.00001
|
|
NM_198586.3(NHLRC1):c.808T>G (p.Ser270Ala)
|
rs755474952
|
0.00001
|
|
NM_198586.3(NHLRC1):c.819C>T (p.Thr273=)
|
rs1220104886
|
0.00001
|
|
NM_198586.3(NHLRC1):c.821G>T (p.Gly274Val)
|
rs1281512045
|
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
|
|
NM_198586.3(NHLRC1):c.913G>A (p.Gly305Ser)
|
rs752220824
|
0.00001
|
|
NM_198586.3(NHLRC1):c.970G>A (p.Ala324Thr)
|
rs776454075
|
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.631+1254C>T
|
rs886645578
|
0.00001
|
|
GRCh37/hg19 22q12.2-12.3(chr22:32134323-32243003)x1
|
|
|
|
NC_000001.10:g.(?_200522516)_(206945780_?)dup
|
|
|
|
NC_000001.10:g.(?_205022314)_(205042893_?)del
|
|
|
|
NC_000002.12:g.96197067AAAAT[(n)]/AAATG[(n)]
|
|
|
|
NC_000003.11:g.(?_167402096)_(167543111_?)dup
|
|
|
|
NC_000003.12:g.(?_167684288)_(167825343_?)dup
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NC_000004.12:g.76163382CT[1]
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NC_000005.10:g.10356348_10356407TTTTA[(9_?)]TTTCA[(791_1035)]
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NC_000007.13:g.(?_66103220)_(66105401_?)dup
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NC_000007.13:g.(?_66103230)_(66104219_?)dup
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NC_000008.10:g.119379055_119379157TGAAA[100_?]TAAAA[40_?]
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NC_000008.10:g.119379055_119379157TGAAA[149]TAAAA[446]
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NC_000022.10:g.(?_32229881)_(32257439_?)del
|
|
|
|
NC_000022.10:g.(?_32234651)_(32234851_?)del
|
|
|
|
NC_000022.10:g.(?_32239061)_(32239818_?)del
|
|
|
|
NC_000022.10:g.(?_32239061)_(32241243_?)del
|
|
|
|
NC_000022.10:g.(?_32253411)_(32275758_?)dup
|
|
|
|
NC_000022.10:g.(?_32253411)_(32302503_?)dup
|
|
|
|
NC_000022.10:g.(?_32289548)_(32302483_?)dup
|
|
|
|
NC_000022.10:g.(?_32297708)_(32302483_?)dup
|
|
|
|
NC_000022.10:g.(?_32297708)_(32302503_?)dup
|
|
|
|
NC_000022.10:g.(?_32301950)_(32302483_?)del
|
|
|
|
NC_000022.10:g.(?_32301960)_(32302483_?)del
|
|
|
|
NC_000022.10:g.32217598_(32218777_32229900)del
|
|
|
|
NC_000022.11:g.(?_31754902)_(31784895_?)del
|
|
|
|
NC_000022.11:g.(?_31754902)_(31815232_?)del
|
|
|
|
NC_000022.11:g.(?_31754902)_(31815449_?)del
|
|
|
|
NC_000022.11:g.(?_31754902)_(31906517_?)del
|
|
|
|
NC_000022.11:g.(?_31758526)_(31758653_?)del
|
|
|
|
NC_000022.11:g.(?_31760636)_(31760722_?)del
|
|
|
|
NC_000022.11:g.(?_31764955)_(31766688_?)del
|
|
|
|
NC_000022.11:g.(?_31764955)_(31768883_?)dup
|
|
|
|
NC_000022.11:g.(?_31778079)_(31792837_?)del
|
|
|
|
NC_000022.11:g.(?_31792013)_(31792122_?)del
|
|
|
|
NC_000022.11:g.(?_31798562)_(31798676_?)del
|
|
|
|
NC_000022.11:g.(?_31804142)_(31810661_?)del
|
|
|
|
NC_000022.11:g.(?_31809591)_(31815232_?)del
|
|
|
|
NC_000022.11:g.(?_31893562)_(31897673_?)del
|
|
|
|
NC_000022.11:g.(?_31901722)_(31901822_?)del
|
|
|
|
NC_000022.11:g.(?_32200123)_(32200234_?)del
|
|
|
|
NC_000022.11:g.31804164_31804174dup
|
|
|
|
NG_011545.1(CSTB):g.4900_4935CCCCGCCCCGCG[30_125]
|
|
|
|
NG_054747.1:g.(19392_19426)TTTTA[(7_?)]TTTCA[(n)]
|
|
|
|
NM_000100.3(CSTB):c.*287G>A
|
rs768173714
|
|
|
NM_000100.3(CSTB):c.*325A>G
|
rs28691645
|
|
|
NM_000100.3(CSTB):c.-210CCCCGCCCCGCG[2_3]
|
|
|
|
NM_000100.4(CSTB):c.*227A>G
|
rs886057112
|
|
|
NM_000100.4(CSTB):c.100A>G (p.Lys34Glu)
|
rs2084002121
|
|
|
NM_000100.4(CSTB):c.106C>T (p.Pro36Ser)
|
rs748162136
|
|
|
NM_000100.4(CSTB):c.111G>A (p.Val37=)
|
|
|
|
NM_000100.4(CSTB):c.113T>A (p.Phe38Tyr)
|
rs1365612504
|
|
|
NM_000100.4(CSTB):c.116A>G (p.Lys39Arg)
|
|
|
|
NM_000100.4(CSTB):c.121del (p.Val41fs)
|
rs1257171692
|
|
|
NM_000100.4(CSTB):c.12G>A (p.Gly4=)
|
rs1555888494
|
|
|
NM_000100.4(CSTB):c.137A>G (p.Gln46Arg)
|
|
|
|
NM_000100.4(CSTB):c.139G>C (p.Val47Leu)
|
rs140799752
|
|
|
NM_000100.4(CSTB):c.140T>G (p.Val47Gly)
|
rs2084001744
|
|
|
NM_000100.4(CSTB):c.144C>T (p.Val48=)
|
|
|
|
NM_000100.4(CSTB):c.145del (p.Ala49fs)
|
|
|
|
NM_000100.4(CSTB):c.146C>A (p.Ala49Glu)
|
rs754421704
|
|
|
NM_000100.4(CSTB):c.15G>A (p.Ala5=)
|
|
|
|
NM_000100.4(CSTB):c.168+19G>T
|
|
|
|
NM_000100.4(CSTB):c.168+2_168+19del
|
rs312262707
|
|
|
NM_000100.4(CSTB):c.168+2_168+21delinsAA
|
rs864309482
|
|
|
NM_000100.4(CSTB):c.168+5A>G
|
|
|
|
NM_000100.4(CSTB):c.168+6G>C
|
|
|
|
NM_000100.4(CSTB):c.168+7T>C
|
|
|
|
NM_000100.4(CSTB):c.168+8G>A
|
rs556221258
|
|
|
NM_000100.4(CSTB):c.168G>A (p.Lys56=)
|
rs386833440
|
|
|
NM_000100.4(CSTB):c.169-13G>A
|
|
|
|
NM_000100.4(CSTB):c.169-2A>G
|
rs386833441
|
|
|
NM_000100.4(CSTB):c.169G>A (p.Val57Met)
|
rs796052394
|
|
|
NM_000100.4(CSTB):c.172C>T (p.His58Tyr)
|
rs2083999686
|
|
|
NM_000100.4(CSTB):c.17C>T (p.Pro6Leu)
|
|
|
|
NM_000100.4(CSTB):c.189C>G (p.Asp63Glu)
|
|
|
|
NM_000100.4(CSTB):c.191T>G (p.Phe64Cys)
|
rs1569005540
|
|
|
NM_000100.4(CSTB):c.193G>A (p.Val65Ile)
|
rs570768038
|
|
|
NM_000100.4(CSTB):c.193G>C (p.Val65Leu)
|
rs570768038
|
|
|
NM_000100.4(CSTB):c.200_203dup (p.Val69fs)
|
rs1601855887
|
|
|
NM_000100.4(CSTB):c.203G>C (p.Arg68Pro)
|
rs757707761
|
|
|
NM_000100.4(CSTB):c.207G>T (p.Val69=)
|
|
|
|
NM_000100.4(CSTB):c.212A>C (p.Gln71Pro)
|
rs121909346
|
|
|
NM_000100.4(CSTB):c.214T>C (p.Ser72Pro)
|
rs796052392
|
|
|
NM_000100.4(CSTB):c.218_219del (p.Leu73fs)
|
rs796943858
|
|
|
NM_000100.4(CSTB):c.21C>A (p.Ser7=)
|
rs748254497
|
|
|
NM_000100.4(CSTB):c.232A>C (p.Lys78Gln)
|
rs2083999131
|
|
|
NM_000100.4(CSTB):c.246A>G (p.Leu82=)
|
rs2123385440
|
|
|
NM_000100.4(CSTB):c.251_254del (p.Asn84fs)
|
rs1555888363
|
|
|
NM_000100.4(CSTB):c.26C>A (p.Thr9Lys)
|
rs778785343
|
|
|
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.295T>C (p.Ter99Arg)
|
rs2083998796
|
|
|
NM_000100.4(CSTB):c.31C>T (p.Pro11Ser)
|
rs2084009509
|
|
|
NM_000100.4(CSTB):c.33G>A (p.Pro11=)
|
rs2123387882
|
|
|
NM_000100.4(CSTB):c.34G>A (p.Ala12Thr)
|
|
|
|
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.47C>T (p.Thr16Ile)
|
rs2084009370
|
|
|
NM_000100.4(CSTB):c.55A>G (p.Ile19Val)
|
rs1349028244
|
|
|
NM_000100.4(CSTB):c.64C>T (p.Gln22Ter)
|
rs1569006250
|
|
|
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.66+3G>C
|
|
|
|
NM_000100.4(CSTB):c.66G>A (p.Gln22=)
|
rs386833443
|
|
|
NM_000100.4(CSTB):c.67-4C>G
|
rs2084002305
|
|
|
NM_000100.4(CSTB):c.96_98del (p.Asn32del)
|
rs750620672
|
|
|
NM_000100.4(CSTB):c.9C>G (p.Cys3Trp)
|
rs555930471
|
|
|
NM_000217.3(KCNA1):c.1186G>C (p.Gly396Arg)
|
rs2137673957
|
|
|
NM_000484.4:c.226-7082_355+12976del
|
|
|
|
NM_000682.7(ADRA2B):c.274G>A (p.Asp92Asn)
|
rs1397681630
|
|
|
NM_000682.7(ADRA2B):c.649G>A (p.Glu217Lys)
|
rs371934652
|
|
|
NM_000682.7(ADRA2B):c.664C>T (p.Arg222Ter)
|
rs786205528
|
|
|
NM_000682.7(ADRA2B):c.675_686delinsGTTTGGCAG (p.His225_Leu229delinsGlnPheGlyArg)
|
rs879255577
|
|
|
NM_000726.4(CACNB4):c.-57G>T
|
rs886054971
|
|
|
NM_000726.4(CACNB4):c.-70G>A
|
rs183873853
|
|
|
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.*2188del
|
rs75297236
|
|
|
NM_000726.5(CACNB4):c.*2542G>A
|
rs886054957
|
|
|
NM_000726.5(CACNB4):c.*3668T>C
|
rs543493236
|
|
|
NM_000726.5(CACNB4):c.*442_*443del
|
rs886054966
|
|
|
NM_000726.5(CACNB4):c.*443A>G
|
rs538829019
|
|
|
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.*624del
|
rs11291336
|
|
|
NM_000726.5(CACNB4):c.*787del
|
rs560958457
|
|
|
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.*1024_*1026del
|
rs151214233
|
|
|
NM_000742.4(CHRNA2):c.*1090C>T
|
rs906182736
|
|
|
NM_000742.4(CHRNA2):c.*1286del
|
rs199764226
|
|
|
NM_000742.4(CHRNA2):c.*1395C>A
|
rs886062841
|
|
|
NM_000742.4(CHRNA2):c.*1667G>A
|
rs577078556
|
|
|
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.-448G>A
|
rs78426134
|
|
|
NM_000742.4(CHRNA2):c.-562GA[8]
|
rs150699126
|
|
|
NM_000742.4(CHRNA2):c.1000T>C (p.Phe334Leu)
|
rs1812582220
|
|
|
NM_000742.4(CHRNA2):c.1018A>T (p.Thr340Ser)
|
rs1586390027
|
|
|
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.1037C>T (p.Thr346Ile)
|
|
|
|
NM_000742.4(CHRNA2):c.1038C>T (p.Thr346=)
|
rs1202844498
|
|
|
NM_000742.4(CHRNA2):c.1039G>A (p.Val347Ile)
|
rs1057524196
|
|
|
NM_000742.4(CHRNA2):c.1045G>A (p.Val349Met)
|
rs774279507
|
|
|
NM_000742.4(CHRNA2):c.1045G>C (p.Val349Leu)
|
rs774279507
|
|
|
NM_000742.4(CHRNA2):c.1050C>T (p.Leu350=)
|
|
|
|
NM_000742.4(CHRNA2):c.1052A>C (p.Asn351Thr)
|
rs770305730
|
|
|
NM_000742.4(CHRNA2):c.105G>A (p.Arg35=)
|
rs1812824307
|
|
|
NM_000742.4(CHRNA2):c.1063C>G (p.Arg355Gly)
|
rs56339365
|
|
|
NM_000742.4(CHRNA2):c.1063C>T (p.Arg355Cys)
|
rs56339365
|
|
|
NM_000742.4(CHRNA2):c.1068C>A (p.Ser356=)
|
rs745774113
|
|
|
NM_000742.4(CHRNA2):c.106del (p.Ala36fs)
|
|
|
|
NM_000742.4(CHRNA2):c.1070C>T (p.Pro357Leu)
|
rs1586389806
|
|
|
NM_000742.4(CHRNA2):c.1082C>T (p.Thr361Ile)
|
|
|
|
NM_000742.4(CHRNA2):c.1084A>T (p.Met362Leu)
|
rs796052301
|
|
|
NM_000742.4(CHRNA2):c.1093T>C (p.Trp365Arg)
|
|
|
|
NM_000742.4(CHRNA2):c.1094G>A (p.Trp365Ter)
|
rs2132651723
|
|
|
NM_000742.4(CHRNA2):c.1104G>A (p.Gly368=)
|
rs2132651658
|
|
|
NM_000742.4(CHRNA2):c.1105G>A (p.Ala369Thr)
|
|
|
|
NM_000742.4(CHRNA2):c.1105del (p.Ala369fs)
|
rs757376257
|
|
|
NM_000742.4(CHRNA2):c.1105dup (p.Ala369fs)
|
rs757376257
|
|
|
NM_000742.4(CHRNA2):c.1122G>T (p.Val374=)
|
|
|
|
NM_000742.4(CHRNA2):c.1124C>T (p.Pro375Leu)
|
rs1812571543
|
|
|
NM_000742.4(CHRNA2):c.1126C>T (p.Arg376Trp)
|
rs1018084204
|
|
|
NM_000742.4(CHRNA2):c.1131G>A (p.Trp377Ter)
|
|
|
|
NM_000742.4(CHRNA2):c.1138_1145dup (p.Arg382_Pro383insTer)
|
|
|
|
NM_000742.4(CHRNA2):c.1148C>T (p.Pro383Leu)
|
rs796052302
|
|
|
NM_000742.4(CHRNA2):c.1152del (p.Pro385fs)
|
rs1812569409
|
|
|
NM_000742.4(CHRNA2):c.1155A>G (p.Pro385=)
|
|
|
|
NM_000742.4(CHRNA2):c.1156C>T (p.Pro386Ser)
|
rs2132651430
|
|
|
NM_000742.4(CHRNA2):c.1161G>T (p.Val387=)
|
|
|
|
NM_000742.4(CHRNA2):c.1163A>G (p.Glu388Gly)
|
rs886062844
|
|
|
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>G (p.Pro392Ala)
|
rs762406891
|
|
|
NM_000742.4(CHRNA2):c.1174C>T (p.Pro392Ser)
|
rs762406891
|
|
|
NM_000742.4(CHRNA2):c.1175C>G (p.Pro392Arg)
|
|
|
|
NM_000742.4(CHRNA2):c.1178T>C (p.Leu393Pro)
|
rs2132651312
|
|
|
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.1217G>C (p.Ser406Thr)
|
|
|
|
NM_000742.4(CHRNA2):c.121del (p.Leu41fs)
|
rs796052310
|
|
|
NM_000742.4(CHRNA2):c.1221C>T (p.Asn407=)
|
|
|
|
NM_000742.4(CHRNA2):c.1222G>A (p.Val408Met)
|
rs771994243
|
|
|
NM_000742.4(CHRNA2):c.1229C>T (p.Ala410Val)
|
|
|
|
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.1240G>A (p.Glu414Lys)
|
rs968676056
|
|
|
NM_000742.4(CHRNA2):c.1240del (p.Glu414fs)
|
rs1360369489
|
|
|
NM_000742.4(CHRNA2):c.1243G>A (p.Val415Met)
|
|
|
|
NM_000742.4(CHRNA2):c.1245G>C (p.Val415=)
|
rs373599393
|
|
|
NM_000742.4(CHRNA2):c.1248G>A (p.Val416=)
|
|
|
|
NM_000742.4(CHRNA2):c.1255G>A (p.Glu419Lys)
|
rs1812560444
|
|
|
NM_000742.4(CHRNA2):c.1257G>A (p.Glu419=)
|
rs2132650965
|
|
|
NM_000742.4(CHRNA2):c.1259del (p.Glu420fs)
|
|
|
|
NM_000742.4(CHRNA2):c.1260G>A (p.Glu420=)
|
rs1057522280
|
|
|
NM_000742.4(CHRNA2):c.1260_1261delinsAC (p.Asp421His)
|
|
|
|
NM_000742.4(CHRNA2):c.1262A>G (p.Asp421Gly)
|
rs1064795452
|
|
|
NM_000742.4(CHRNA2):c.1263C>T (p.Asp421=)
|
rs2132650909
|
|
|
NM_000742.4(CHRNA2):c.1266A>T (p.Arg422Ser)
|
rs2132650884
|
|
|
NM_000742.4(CHRNA2):c.1267T>C (p.Trp423Arg)
|
|
|
|
NM_000742.4(CHRNA2):c.1273T>A (p.Cys425Ser)
|
|
|
|
NM_000742.4(CHRNA2):c.1273T>C (p.Cys425Arg)
|
rs1179640861
|
|
|
NM_000742.4(CHRNA2):c.1275T>G (p.Cys425Trp)
|
|
|
|
NM_000742.4(CHRNA2):c.1277C>T (p.Ala426Val)
|
rs138721954
|
|
|
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.1318G>C (p.Gly440Arg)
|
|
|
|
NM_000742.4(CHRNA2):c.131C>G (p.Pro44Arg)
|
|
|
|
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.1345C>T (p.Pro449Ser)
|
|
|
|
NM_000742.4(CHRNA2):c.1346C>G (p.Pro449Arg)
|
|
|
|
NM_000742.4(CHRNA2):c.1354G>T (p.Glu452Ter)
|
rs778197366
|
|
|
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.1366C>G (p.Gln456Glu)
|
|
|
|
NM_000742.4(CHRNA2):c.1374T>G (p.Gly458=)
|
rs976672656
|
|
|
NM_000742.4(CHRNA2):c.1378C>A (p.Leu460Met)
|
rs765948265
|
|
|
NM_000742.4(CHRNA2):c.1378C>G (p.Leu460Val)
|
rs765948265
|
|
|
NM_000742.4(CHRNA2):c.1378C>T (p.Leu460=)
|
rs765948265
|
|
|
NM_000742.4(CHRNA2):c.137C>T (p.Pro46Leu)
|
rs748345482
|
|
|
NM_000742.4(CHRNA2):c.1385T>C (p.Leu462Pro)
|
rs377612702
|
|
|
NM_000742.4(CHRNA2):c.1393C>G (p.His465Asp)
|
rs772765800
|
|
|
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.1412A>G (p.Glu471Gly)
|
rs963988264
|
|
|
NM_000742.4(CHRNA2):c.1415G>A (p.Gly472Asp)
|
rs1165713402
|
|
|
NM_000742.4(CHRNA2):c.1426A>C (p.Ile476Leu)
|
rs796052304
|
|
|
NM_000742.4(CHRNA2):c.1426A>G (p.Ile476Val)
|
rs796052304
|
|
|
NM_000742.4(CHRNA2):c.1441C>A (p.Arg481=)
|
|
|
|
NM_000742.4(CHRNA2):c.1447G>A (p.Glu483Lys)
|
rs755338508
|
|
|
NM_000742.4(CHRNA2):c.1460C>G (p.Ser487Cys)
|
|
|
|
NM_000742.4(CHRNA2):c.1464+12T>C
|
|
|
|
NM_000742.4(CHRNA2):c.1464+4C>T
|
rs1586388485
|
|
|
NM_000742.4(CHRNA2):c.1464+5G>T
|
rs758065946
|
|
|
NM_000742.4(CHRNA2):c.1464+7T>G
|
|
|
|
NM_000742.4(CHRNA2):c.1465-1G>A
|
rs1812498557
|
|
|
NM_000742.4(CHRNA2):c.1465-21_1465-20inv
|
|
|
|
NM_000742.4(CHRNA2):c.1465-6C>A
|
|
|
|
NM_000742.4(CHRNA2):c.1465G>T (p.Val489Leu)
|
|
|
|
NM_000742.4(CHRNA2):c.1468_1470del (p.Lys490del)
|
|
|
|
NM_000742.4(CHRNA2):c.1473G>A (p.Glu491=)
|
rs1270908053
|
|
|
NM_000742.4(CHRNA2):c.1478G>A (p.Trp493Ter)
|
rs374449470
|
|
|
NM_000742.4(CHRNA2):c.1482G>A (p.Lys494=)
|
|
|
|
NM_000742.4(CHRNA2):c.1498_1500del (p.Ile500del)
|
rs760166123
|
|
|
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.1501G>A (p.Asp501Asn)
|
rs759930402
|
|
|
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.1531G>C (p.Val511Leu)
|
rs796052306
|
|
|
NM_000742.4(CHRNA2):c.1533C>G (p.Val511=)
|
|
|
|
NM_000742.4(CHRNA2):c.1534T>C (p.Cys512Arg)
|
|
|
|
NM_000742.4(CHRNA2):c.1535G>T (p.Cys512Phe)
|
|
|
|
NM_000742.4(CHRNA2):c.1539C>T (p.Phe513=)
|
|
|
|
NM_000742.4(CHRNA2):c.1541T>A (p.Leu514Gln)
|
rs1812493442
|
|
|
NM_000742.4(CHRNA2):c.1541T>C (p.Leu514Pro)
|
rs1812493442
|
|
|
NM_000742.4(CHRNA2):c.1544G>A (p.Gly515Glu)
|
rs1563315936
|
|
|
NM_000742.4(CHRNA2):c.154G>A (p.Gly52Arg)
|
|
|
|
NM_000742.4(CHRNA2):c.1555C>T (p.Leu519Phe)
|
rs1586386548
|
|
|
NM_000742.4(CHRNA2):c.1563_1564delinsCT (p.Pro522Ser)
|
rs2132646191
|
|
|
NM_000742.4(CHRNA2):c.1568C>A (p.Pro523Gln)
|
rs145238683
|
|
|
NM_000742.4(CHRNA2):c.1568C>G (p.Pro523Arg)
|
|
|
|
NM_000742.4(CHRNA2):c.1568C>T (p.Pro523Leu)
|
rs145238683
|
|
|
NM_000742.4(CHRNA2):c.1583T>C (p.Met528Thr)
|
rs1812490479
|
|
|
NM_000742.4(CHRNA2):c.15T>A (p.Cys5Ter)
|
|
|
|
NM_000742.4(CHRNA2):c.15T>C (p.Cys5=)
|
|
|
|
NM_000742.4(CHRNA2):c.164A>G (p.His55Arg)
|
rs1812820756
|
|
|
NM_000742.4(CHRNA2):c.16C>T (p.Pro6Ser)
|
|
|
|
NM_000742.4(CHRNA2):c.177G>C (p.Glu59Asp)
|
|
|
|
NM_000742.4(CHRNA2):c.178G>T (p.Asp60Tyr)
|
rs759538013
|
|
|
NM_000742.4(CHRNA2):c.181C>T (p.Arg61Trp)
|
|
|
|
NM_000742.4(CHRNA2):c.182G>C (p.Arg61Pro)
|
|
|
|
NM_000742.4(CHRNA2):c.184C>T (p.Leu62Phe)
|
rs903870658
|
|
|
NM_000742.4(CHRNA2):c.193C>A (p.His65Asn)
|
rs200035862
|
|
|
NM_000742.4(CHRNA2):c.195C>G (p.His65Gln)
|
|
|
|
NM_000742.4(CHRNA2):c.197T>C (p.Leu66Pro)
|
|
|
|
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.203G>T (p.Arg68Leu)
|
rs548268816
|
|
|
NM_000742.4(CHRNA2):c.209A>G (p.Tyr70Cys)
|
rs1812818035
|
|
|
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.221C>A (p.Ala74Glu)
|
|
|
|
NM_000742.4(CHRNA2):c.221C>T (p.Ala74Val)
|
rs759595350
|
|
|
NM_000742.4(CHRNA2):c.224G>A (p.Arg75His)
|
rs762847144
|
|
|
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.227C>G (p.Pro76Arg)
|
rs199810678
|
|
|
NM_000742.4(CHRNA2):c.22T>A (p.Phe8Ile)
|
rs1812864886
|
|
|
NM_000742.4(CHRNA2):c.235A>G (p.Asn79Asp)
|
rs1812814993
|
|
|
NM_000742.4(CHRNA2):c.239C>T (p.Thr80Ile)
|
rs1812814759
|
|
|
NM_000742.4(CHRNA2):c.245A>G (p.Asp82Gly)
|
|
|
|
NM_000742.4(CHRNA2):c.24C>G (p.Phe8Leu)
|
|
|
|
NM_000742.4(CHRNA2):c.24C>T (p.Phe8=)
|
rs757567429
|
|
|
NM_000742.4(CHRNA2):c.257T>A (p.Val86Glu)
|
|
|
|
NM_000742.4(CHRNA2):c.265G>A (p.Gly89Arg)
|
|
|
|
NM_000742.4(CHRNA2):c.269T>C (p.Leu90Pro)
|
|
|
|
NM_000742.4(CHRNA2):c.277G>C (p.Ala93Pro)
|
|
|
|
NM_000742.4(CHRNA2):c.286A>T (p.Ile96Phe)
|
rs149615415
|
|
|
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.294+1G>A
|
rs1064795899
|
|
|
NM_000742.4(CHRNA2):c.294+2T>C
|
|
|
|
NM_000742.4(CHRNA2):c.295-16_295-7dup
|
rs776047724
|
|
|
NM_000742.4(CHRNA2):c.295-18T>A
|
rs2132666061
|
|
|
NM_000742.4(CHRNA2):c.295-19C>G
|
|
|
|
NM_000742.4(CHRNA2):c.295-5G>A
|
|
|
|
NM_000742.4(CHRNA2):c.295-6G>A
|
rs2132665999
|
|
|
NM_000742.4(CHRNA2):c.295-7G>A
|
rs1812797993
|
|
|
NM_000742.4(CHRNA2):c.295-8del
|
|
|
|
NM_000742.4(CHRNA2):c.295-9C>T
|
rs2132666030
|
|
|
NM_000742.4(CHRNA2):c.298G>A (p.Glu100Lys)
|
|
|
|
NM_000742.4(CHRNA2):c.29C>A (p.Ser10Tyr)
|
|
|
|
NM_000742.4(CHRNA2):c.301A>C (p.Lys101Gln)
|
rs1554515367
|
|
|
NM_000742.4(CHRNA2):c.305A>G (p.Asn102Ser)
|
rs2132665924
|
|
|
NM_000742.4(CHRNA2):c.321C>T (p.Thr107=)
|
rs886044444
|
|
|
NM_000742.4(CHRNA2):c.327C>T (p.Val109=)
|
|
|
|
NM_000742.4(CHRNA2):c.328T>A (p.Trp110Arg)
|
|
|
|
NM_000742.4(CHRNA2):c.332T>C (p.Leu111Pro)
|
|
|
|
NM_000742.4(CHRNA2):c.338A>C (p.Gln113Pro)
|
|
|
|
NM_000742.4(CHRNA2):c.339+11C>T
|
|
|
|
NM_000742.4(CHRNA2):c.339+12_339+13del
|
rs139680977
|
|
|
NM_000742.4(CHRNA2):c.339+13dup
|
rs139680977
|
|
|
NM_000742.4(CHRNA2):c.339+5G>C
|
|
|
|
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.340-16C>A
|
|
|
|
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.35C>T (p.Thr12Ile)
|
|
|
|
NM_000742.4(CHRNA2):c.360G>A (p.Leu120=)
|
rs1586395599
|
|
|
NM_000742.4(CHRNA2):c.361C>A (p.Arg121Ser)
|
rs746274421
|
|
|
NM_000742.4(CHRNA2):c.361C>T (p.Arg121Cys)
|
|
|
|
NM_000742.4(CHRNA2):c.362G>A (p.Arg121His)
|
|
|
|
NM_000742.4(CHRNA2):c.363C>G (p.Arg121=)
|
|
|
|
NM_000742.4(CHRNA2):c.364T>C (p.Trp122Arg)
|
|
|
|
NM_000742.4(CHRNA2):c.368A>G (p.Asn123Ser)
|
rs2132661449
|
|
|
NM_000742.4(CHRNA2):c.370C>A (p.Pro124Thr)
|
|
|
|
NM_000742.4(CHRNA2):c.372C>G (p.Pro124=)
|
|
|
|
NM_000742.4(CHRNA2):c.372_373inv (p.Thr125Ala)
|
|
|
|
NM_000742.4(CHRNA2):c.373del (p.Thr125fs)
|
|
|
|
NM_000742.4(CHRNA2):c.375T>C (p.Thr125=)
|
|
|
|
NM_000742.4(CHRNA2):c.376G>T (p.Asp126Tyr)
|
|
|
|
NM_000742.4(CHRNA2):c.380T>G (p.Phe127Cys)
|
rs777304017
|
|
|
NM_000742.4(CHRNA2):c.392C>T (p.Thr131Ile)
|
|
|
|
NM_000742.4(CHRNA2):c.403del (p.Val135fs)
|
rs777391476
|
|
|
NM_000742.4(CHRNA2):c.404T>G (p.Val135Gly)
|
rs1563321069
|
|
|
NM_000742.4(CHRNA2):c.411T>A (p.Ser137=)
|
|
|
|
NM_000742.4(CHRNA2):c.413_422del (p.Glu138fs)
|
|
|
|
NM_000742.4(CHRNA2):c.428C>A (p.Pro143His)
|
|
|
|
NM_000742.4(CHRNA2):c.437T>C (p.Val146Ala)
|
|
|
|
NM_000742.4(CHRNA2):c.444C>T (p.Tyr148=)
|
|
|
|
NM_000742.4(CHRNA2):c.444CAA[1] (p.Asn150del)
|
rs758217117
|
|
|
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.450-1G>T
|
|
|
|
NM_000742.4(CHRNA2):c.450-87C>G
|
rs3735757
|
|
|
NM_000742.4(CHRNA2):c.450-9T>A
|
rs1812619727
|
|
|
NM_000742.4(CHRNA2):c.458G>A (p.Gly153Glu)
|
rs1812618871
|
|
|
NM_000742.4(CHRNA2):c.459G>A (p.Gly153=)
|
rs1586391704
|
|
|
NM_000742.4(CHRNA2):c.476A>G (p.His159Arg)
|
rs1812618288
|
|
|
NM_000742.4(CHRNA2):c.485_491del (p.Lys162fs)
|
rs1563319139
|
|
|
NM_000742.4(CHRNA2):c.48G>A (p.Leu16=)
|
rs2132670415
|
|
|
NM_000742.4(CHRNA2):c.500C>T (p.Ser167Phe)
|
rs1812616489
|
|
|
NM_000742.4(CHRNA2):c.502A>T (p.Thr168Ser)
|
|
|
|
NM_000742.4(CHRNA2):c.504G>C (p.Thr168=)
|
rs1247001566
|
|
|
NM_000742.4(CHRNA2):c.515A>G (p.His172Arg)
|
rs1812615728
|
|
|
NM_000742.4(CHRNA2):c.516C>A (p.His172Gln)
|
rs1563319114
|
|
|
NM_000742.4(CHRNA2):c.51G>T (p.Trp17Cys)
|
|
|
|
NM_000742.4(CHRNA2):c.523C>A (p.Pro175Thr)
|
|
|
|
NM_000742.4(CHRNA2):c.524C>T (p.Pro175Leu)
|
|
|
|
NM_000742.4(CHRNA2):c.527C>A (p.Pro176Gln)
|
rs769273715
|
|
|
NM_000742.4(CHRNA2):c.527C>T (p.Pro176Leu)
|
rs769273715
|
|
|
NM_000742.4(CHRNA2):c.537C>G (p.Tyr179Ter)
|
rs192887571
|
|
|
NM_000742.4(CHRNA2):c.540G>C (p.Lys180Asn)
|
rs201551533
|
|
|
NM_000742.4(CHRNA2):c.543C>G (p.Ser181Arg)
|
rs768575325
|
|
|
NM_000742.4(CHRNA2):c.543C>T (p.Ser181=)
|
|
|
|
NM_000742.4(CHRNA2):c.549C>A (p.Cys183Ter)
|
rs1563319049
|
|
|
NM_000742.4(CHRNA2):c.551G>T (p.Ser184Ile)
|
|
|
|
NM_000742.4(CHRNA2):c.556G>A (p.Asp186Asn)
|
|
|
|
NM_000742.4(CHRNA2):c.559G>A (p.Val187Ile)
|
|
|
|
NM_000742.4(CHRNA2):c.563C>A (p.Thr188Asn)
|
|
|
|
NM_000742.4(CHRNA2):c.564C>T (p.Thr188=)
|
|
|
|
NM_000742.4(CHRNA2):c.56T>C (p.Leu19Pro)
|
rs1812863482
|
|
|
NM_000742.4(CHRNA2):c.577G>T (p.Asp193Tyr)
|
|
|
|
NM_000742.4(CHRNA2):c.579C>A (p.Asp193Glu)
|
rs2132654151
|
|
|
NM_000742.4(CHRNA2):c.584A>C (p.Gln195Pro)
|
rs2132654123
|
|
|
NM_000742.4(CHRNA2):c.589T>C (p.Cys197Arg)
|
rs1554514597
|
|
|
NM_000742.4(CHRNA2):c.590G>T (p.Cys197Phe)
|
rs796052299
|
|
|
NM_000742.4(CHRNA2):c.603_616del (p.Phe201fs)
|
|
|
|
NM_000742.4(CHRNA2):c.607_629delinsATAAGTCCAG (p.Ser203fs)
|
rs1812608825
|
|
|
NM_000742.4(CHRNA2):c.618T>C (p.Tyr206=)
|
|
|
|
NM_000742.4(CHRNA2):c.621C>T (p.Asp207=)
|
rs2132654000
|
|
|
NM_000742.4(CHRNA2):c.625G>A (p.Ala209Thr)
|
|
|
|
NM_000742.4(CHRNA2):c.633C>T (p.Ile211=)
|
|
|
|
NM_000742.4(CHRNA2):c.643C>A (p.Gln215Lys)
|
rs1812608078
|
|
|
NM_000742.4(CHRNA2):c.644A>G (p.Gln215Arg)
|
|
|
|
NM_000742.4(CHRNA2):c.646A>G (p.Met216Val)
|
rs1812607837
|
|
|
NM_000742.4(CHRNA2):c.647T>C (p.Met216Thr)
|
|
|
|
NM_000742.4(CHRNA2):c.653A>G (p.Gln218Arg)
|
rs377660408
|
|
|
NM_000742.4(CHRNA2):c.655A>G (p.Thr219Ala)
|
rs1428288320
|
|
|
NM_000742.4(CHRNA2):c.662A>G (p.Asp221Gly)
|
|
|
|
NM_000742.4(CHRNA2):c.676T>A (p.Trp226Arg)
|
|
|
|
NM_000742.4(CHRNA2):c.686_694del (p.Gly229_Trp231del)
|
|
|
|
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.73+4A>C
|
rs1307812125
|
|
|
NM_000742.4(CHRNA2):c.74-6T>C
|
|
|
|
NM_000742.4(CHRNA2):c.74-6T>G
|
|
|
|
NM_000742.4(CHRNA2):c.740G>A (p.Cys247Tyr)
|
rs1812601639
|
|
|
NM_000742.4(CHRNA2):c.747C>G (p.Ala249=)
|
rs1040149262
|
|
|
NM_000742.4(CHRNA2):c.747C>T (p.Ala249=)
|
|
|
|
NM_000742.4(CHRNA2):c.748G>A (p.Glu250Lys)
|
rs1262745996
|
|
|
NM_000742.4(CHRNA2):c.74G>C (p.Gly25Ala)
|
|
|
|
NM_000742.4(CHRNA2):c.763del (p.Val255fs)
|
rs2132653296
|
|
|
NM_000742.4(CHRNA2):c.767C>T (p.Thr256Ile)
|
rs1586390822
|
|
|
NM_000742.4(CHRNA2):c.784C>T (p.Arg262Trp)
|
|
|
|
NM_000742.4(CHRNA2):c.784del (p.Arg262fs)
|
rs1332347946
|
|
|
NM_000742.4(CHRNA2):c.788G>C (p.Arg263Pro)
|
|
|
|
NM_000742.4(CHRNA2):c.78A>C (p.Gly26=)
|
|
|
|
NM_000742.4(CHRNA2):c.799T>A (p.Phe267Ile)
|
rs1554514530
|
|
|
NM_000742.4(CHRNA2):c.809T>C (p.Ile270Thr)
|
rs2132653089
|
|
|
NM_000742.4(CHRNA2):c.822C>G (p.Ile274Met)
|
|
|
|
NM_000742.4(CHRNA2):c.82G>C (p.Glu28Gln)
|
rs1812825772
|
|
|
NM_000742.4(CHRNA2):c.836T>A (p.Ile279Asn)
|
rs104894063
|
|
|
NM_000742.4(CHRNA2):c.844C>T (p.Leu282Phe)
|
|
|
|
NM_000742.4(CHRNA2):c.860T>C (p.Phe287Ser)
|
rs1060503073
|
|
|
NM_000742.4(CHRNA2):c.865C>T (p.Leu289=)
|
rs2132652883
|
|
|
NM_000742.4(CHRNA2):c.881G>A (p.Gly294Asp)
|
|
|
|
NM_000742.4(CHRNA2):c.884AGA[1] (p.Lys296del)
|
rs796052309
|
|
|
NM_000742.4(CHRNA2):c.889A>T (p.Ile297Phe)
|
rs1554514507
|
|
|
NM_000742.4(CHRNA2):c.894G>C (p.Thr298=)
|
|
|
|
NM_000742.4(CHRNA2):c.906G>T (p.Ser302=)
|
rs151068685
|
|
|
NM_000742.4(CHRNA2):c.907G>A (p.Val303Met)
|
|
|
|
NM_000742.4(CHRNA2):c.907G>C (p.Val303Leu)
|
rs2132652645
|
|
|
NM_000742.4(CHRNA2):c.910C>T (p.Leu304=)
|
|
|
|
NM_000742.4(CHRNA2):c.912_913delinsAA (p.Leu305Met)
|
rs2132652617
|
|
|
NM_000742.4(CHRNA2):c.915G>A (p.Leu305=)
|
|
|
|
NM_000742.4(CHRNA2):c.918A>T (p.Ser306=)
|
rs908715626
|
|
|
NM_000742.4(CHRNA2):c.922A>C (p.Thr308Pro)
|
rs1233767222
|
|
|
NM_000742.4(CHRNA2):c.924C>G (p.Thr308=)
|
|
|
|
NM_000742.4(CHRNA2):c.929T>G (p.Phe310Cys)
|
rs1563318247
|
|
|
NM_000742.4(CHRNA2):c.92G>A (p.Arg31His)
|
|
|
|
NM_000742.4(CHRNA2):c.936G>C (p.Leu312=)
|
rs1319128623
|
|
|
NM_000742.4(CHRNA2):c.937C>T (p.Leu313Phe)
|
|
|
|
NM_000742.4(CHRNA2):c.948G>C (p.Glu316Asp)
|
rs1812587015
|
|
|
NM_000742.4(CHRNA2):c.953T>A (p.Ile318Asn)
|
|
|
|
NM_000742.4(CHRNA2):c.956C>G (p.Pro319Arg)
|
rs750130500
|
|
|
NM_000742.4(CHRNA2):c.956C>T (p.Pro319Leu)
|
rs750130500
|
|
|
NM_000742.4(CHRNA2):c.959C>A (p.Ser320Tyr)
|
rs760884840
|
|
|
NM_000742.4(CHRNA2):c.966G>C (p.Ser322=)
|
rs140118184
|
|
|
NM_000742.4(CHRNA2):c.971T>A (p.Val324Asp)
|
|
|
|
NM_000742.4(CHRNA2):c.978G>A (p.Pro326=)
|
|
|
|
NM_000742.4(CHRNA2):c.981C>T (p.Leu327=)
|
|
|
|
NM_000742.4(CHRNA2):c.986G>C (p.Gly329Ala)
|
|
|
|
NM_000742.4(CHRNA2):c.987_990del (p.Glu330fs)
|
rs1812583233
|
|
|
NM_000742.4(CHRNA2):c.98C>G (p.Pro33Arg)
|
|
|
|
NM_000742.4(CHRNA2):c.993C>A (p.Tyr331Ter)
|
|
|
|
NM_000744.7(CHRNA4):c.1002G>A (p.Ser334=)
|
rs121912263
|
|
|
NM_000744.7(CHRNA4):c.1003C>T (p.Pro335Ser)
|
|
|
|
NM_000744.7(CHRNA4):c.1011G>A (p.Thr337=)
|
|
|
|
NM_000744.7(CHRNA4):c.1016C>A (p.Thr339Asn)
|
rs2123471762
|
|
|
NM_000744.7(CHRNA4):c.1025C>T (p.Thr342Ile)
|
|
|
|
NM_000744.7(CHRNA4):c.1030dup (p.Val344fs)
|
rs1299258914
|
|
|
NM_000744.7(CHRNA4):c.1033C>G (p.Arg345Gly)
|
|
|
|
NM_000744.7(CHRNA4):c.1034G>A (p.Arg345His)
|
|
|
|
NM_000744.7(CHRNA4):c.1038G>A (p.Arg346=)
|
|
|
|
NM_000744.7(CHRNA4):c.1051A>G (p.Ile351Val)
|
|
|
|
NM_000744.7(CHRNA4):c.1066C>T (p.Leu356Phe)
|
rs121912265
|
|
|
NM_000744.7(CHRNA4):c.1069C>T (p.Leu357Phe)
|
rs1215991666
|
|
|
NM_000744.7(CHRNA4):c.1075A>G (p.Lys359Glu)
|
rs1555837732
|
|
|
NM_000744.7(CHRNA4):c.1075A>T (p.Lys359Ter)
|
rs1555837732
|
|
|
NM_000744.7(CHRNA4):c.1076A>C (p.Lys359Thr)
|
|
|
|
NM_000744.7(CHRNA4):c.1078C>T (p.Arg360Trp)
|
rs759167480
|
|
|
NM_000744.7(CHRNA4):c.107C>A (p.Ala36Asp)
|
rs2068775011
|
|
|
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.1085C>T (p.Ser362Phe)
|
|
|
|
NM_000744.7(CHRNA4):c.1090G>A (p.Val364Ile)
|
|
|
|
NM_000744.7(CHRNA4):c.1091T>A (p.Val364Asp)
|
|
|
|
NM_000744.7(CHRNA4):c.109G>C (p.Glu37Gln)
|
|
|
|
NM_000744.7(CHRNA4):c.1103G>A (p.Cys368Tyr)
|
|
|
|
NM_000744.7(CHRNA4):c.1113_1114insTATG (p.Ile372fs)
|
|
|
|
NM_000744.7(CHRNA4):c.1122C>T (p.Ser374=)
|
|
|
|
NM_000744.7(CHRNA4):c.1129A>C (p.Lys377Gln)
|
|
|
|
NM_000744.7(CHRNA4):c.112G>C (p.Glu38Gln)
|
rs1428100117
|
|
|
NM_000744.7(CHRNA4):c.1131G>T (p.Lys377Asn)
|
rs2123471394
|
|
|
NM_000744.7(CHRNA4):c.1136_1158del (p.Ala379fs)
|
rs2068568636
|
|
|
NM_000744.7(CHRNA4):c.1139G>A (p.Ser380Asn)
|
rs1601474256
|
|
|
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>G (p.Pro386=)
|
rs45564639
|
|
|
NM_000744.7(CHRNA4):c.1158C>T (p.Pro386=)
|
rs45564639
|
|
|
NM_000744.7(CHRNA4):c.115C>A (p.Arg39=)
|
|
|
|
NM_000744.7(CHRNA4):c.1161G>C (p.Glu387Asp)
|
rs1064795592
|
|
|
NM_000744.7(CHRNA4):c.116G>A (p.Arg39Gln)
|
rs1412355004
|
|
|
NM_000744.7(CHRNA4):c.1175C>T (p.Pro392Leu)
|
rs2123471262
|
|
|
NM_000744.7(CHRNA4):c.1178del (p.Pro393fs)
|
rs1435638963
|
|
|
NM_000744.7(CHRNA4):c.1178dup (p.Ala394fs)
|
rs1435638963
|
|
|
NM_000744.7(CHRNA4):c.1183A>G (p.Thr395Ala)
|
rs2068567925
|
|
|
NM_000744.7(CHRNA4):c.1185G>A (p.Thr395=)
|
rs1448350798
|
|
|
NM_000744.7(CHRNA4):c.1188C>A (p.Ser396Arg)
|
|
|
|
NM_000744.7(CHRNA4):c.1192A>G (p.Thr398Ala)
|
|
|
|
NM_000744.7(CHRNA4):c.1194C>T (p.Thr398=)
|
rs752592838
|
|
|
NM_000744.7(CHRNA4):c.1201C>T (p.Leu401=)
|
|
|
|
NM_000744.7(CHRNA4):c.1206C>A (p.His402Gln)
|
|
|
|
NM_000744.7(CHRNA4):c.1207C>A (p.Pro403Thr)
|
rs903340563
|
|
|
NM_000744.7(CHRNA4):c.1207C>T (p.Pro403Ser)
|
|
|
|
NM_000744.7(CHRNA4):c.1208_1209delinsT (p.Pro403fs)
|
rs2068566927
|
|
|
NM_000744.7(CHRNA4):c.1209G>A (p.Pro403=)
|
rs2229959
|
|
|
NM_000744.7(CHRNA4):c.1209G>T (p.Pro403=)
|
rs2229959
|
|
|
NM_000744.7(CHRNA4):c.1209_1210delinsTT (p.Pro404Ser)
|
rs1064795858
|
|
|
NM_000744.7(CHRNA4):c.1211C>T (p.Pro404Leu)
|
rs1435870435
|
|
|
NM_000744.7(CHRNA4):c.1214C>T (p.Ser405Leu)
|
rs1568808891
|
|
|
NM_000744.7(CHRNA4):c.1216C>A (p.Pro406Thr)
|
rs571283490
|
|
|
NM_000744.7(CHRNA4):c.1216C>T (p.Pro406Ser)
|
|
|
|
NM_000744.7(CHRNA4):c.1220C>T (p.Ser407Phe)
|
rs761335733
|
|
|
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.1231C>A (p.Pro411Thr)
|
rs2068565794
|
|
|
NM_000744.7(CHRNA4):c.1232C>T (p.Pro411Leu)
|
rs779035642
|
|
|
NM_000744.7(CHRNA4):c.123G>C (p.Leu41=)
|
|
|
|
NM_000744.7(CHRNA4):c.1245G>T (p.Pro415=)
|
|
|
|
NM_000744.7(CHRNA4):c.1255G>A (p.Gly419Arg)
|
rs2068565140
|
|
|
NM_000744.7(CHRNA4):c.1271C>T (p.Ser424Leu)
|
|
|
|
NM_000744.7(CHRNA4):c.1272A>G (p.Ser424=)
|
rs1601473530
|
|
|
NM_000744.7(CHRNA4):c.1274C>T (p.Pro425Leu)
|
rs561073516
|
|
|
NM_000744.7(CHRNA4):c.1275C>T (p.Pro425=)
|
|
|
|
NM_000744.7(CHRNA4):c.1279G>A (p.Asp427Asn)
|
rs1196580622
|
|
|
NM_000744.7(CHRNA4):c.1285C>T (p.Leu429Phe)
|
|
|
|
NM_000744.7(CHRNA4):c.1300C>T (p.Pro434Ser)
|
rs545104411
|
|
|
NM_000744.7(CHRNA4):c.1305G>A (p.Leu435=)
|
|
|
|
NM_000744.7(CHRNA4):c.1306G>A (p.Glu436Lys)
|
|
|
|
NM_000744.7(CHRNA4):c.1313A>G (p.Glu438Gly)
|
rs2068563339
|
|
|
NM_000744.7(CHRNA4):c.1320C>T (p.Ala440=)
|
|
|
|
NM_000744.7(CHRNA4):c.1325C>T (p.Pro442Leu)
|
|
|
|
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.1349G>A (p.Arg450His)
|
|
|
|
NM_000744.7(CHRNA4):c.1355C>T (p.Pro452Leu)
|
rs2068562170
|
|
|
NM_000744.7(CHRNA4):c.1369G>A (p.Ala457Thr)
|
rs753598324
|
|
|
NM_000744.7(CHRNA4):c.1372C>T (p.Pro458Ser)
|
|
|
|
NM_000744.7(CHRNA4):c.1373C>A (p.Pro458Gln)
|
rs121912277
|
|
|
NM_000744.7(CHRNA4):c.1380G>A (p.Leu460=)
|
rs2123470582
|
|
|
NM_000744.7(CHRNA4):c.1385A>C (p.Lys462Thr)
|
rs1568808487
|
|
|
NM_000744.7(CHRNA4):c.1395C>A (p.Ser465=)
|
|
|
|
NM_000744.7(CHRNA4):c.1395C>G (p.Ser465=)
|
rs748016098
|
|
|
NM_000744.7(CHRNA4):c.139G>A (p.Gly47Ser)
|
|
|
|
NM_000744.7(CHRNA4):c.1400G>A (p.Ser467Asn)
|
|
|
|
NM_000744.7(CHRNA4):c.1401C>G (p.Ser467Arg)
|
rs45569837
|
|
|
NM_000744.7(CHRNA4):c.1411A>G (p.Met471Val)
|
rs1568808418
|
|
|
NM_000744.7(CHRNA4):c.1415C>G (p.Ser472Cys)
|
|
|
|
NM_000744.7(CHRNA4):c.1417A>G (p.Ser473Gly)
|
rs1555837484
|
|
|
NM_000744.7(CHRNA4):c.1418G>A (p.Ser473Asn)
|
rs2068560302
|
|
|
NM_000744.7(CHRNA4):c.1422T>C (p.Pro474=)
|
|
|
|
NM_000744.7(CHRNA4):c.1431G>C (p.Ala477=)
|
|
|
|
NM_000744.7(CHRNA4):c.1444G>A (p.Val482Ile)
|
|
|
|
NM_000744.7(CHRNA4):c.1447C>A (p.Arg483=)
|
|
|
|
NM_000744.7(CHRNA4):c.1449G>A (p.Arg483=)
|
|
|
|
NM_000744.7(CHRNA4):c.144CAA[1] (p.Asn49del)
|
rs780385531
|
|
|
NM_000744.7(CHRNA4):c.1453C>T (p.Arg485Trp)
|
rs978124935
|
|
|
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>G (p.Asn49Lys)
|
|
|
|
NM_000744.7(CHRNA4):c.147C>T (p.Asn49=)
|
rs201484306
|
|
|
NM_000744.7(CHRNA4):c.1484G>A (p.Arg495Gln)
|
|
|
|
NM_000744.7(CHRNA4):c.1489G>A (p.Asp497Asn)
|
|
|
|
NM_000744.7(CHRNA4):c.1496C>A (p.Ala499Asp)
|
rs1191814622
|
|
|
NM_000744.7(CHRNA4):c.14G>T (p.Gly5Val)
|
rs946142547
|
|
|
NM_000744.7(CHRNA4):c.14del (p.Gly5fs)
|
rs2068814247
|
|
|
NM_000744.7(CHRNA4):c.1500dup (p.Glu501fs)
|
|
|
|
NM_000744.7(CHRNA4):c.1504G>T (p.Ala502Ser)
|
|
|
|
NM_000744.7(CHRNA4):c.1523_1525dup (p.Gly508dup)
|
rs2068557278
|
|
|
NM_000744.7(CHRNA4):c.152G>A (p.Trp51Ter)
|
|
|
|
NM_000744.7(CHRNA4):c.1542C>G (p.Asn514Lys)
|
|
|
|
NM_000744.7(CHRNA4):c.1543A>C (p.Thr515Pro)
|
|
|
|
NM_000744.7(CHRNA4):c.1545C>T (p.Thr515=)
|
|
|
|
NM_000744.7(CHRNA4):c.1547A>G (p.His516Arg)
|
|
|
|
NM_000744.7(CHRNA4):c.1553C>G (p.Ala518Gly)
|
rs201365294
|
|
|
NM_000744.7(CHRNA4):c.1553C>T (p.Ala518Val)
|
|
|
|
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.1574A>G (p.Gln525Arg)
|
rs1445972429
|
|
|
NM_000744.7(CHRNA4):c.1577C>T (p.Pro526Leu)
|
|
|
|
NM_000744.7(CHRNA4):c.1582C>T (p.Pro528Ser)
|
rs1353802225
|
|
|
NM_000744.7(CHRNA4):c.1586G>A (p.Cys529Tyr)
|
|
|
|
NM_000744.7(CHRNA4):c.1589A>C (p.Lys530Thr)
|
rs2123470034
|
|
|
NM_000744.7(CHRNA4):c.1596A>G (p.Thr532=)
|
rs533213338
|
|
|
NM_000744.7(CHRNA4):c.1598G>C (p.Cys533Ser)
|
|
|
|
NM_000744.7(CHRNA4):c.15C>T (p.Gly5=)
|
|
|
|
NM_000744.7(CHRNA4):c.1600AAG[1] (p.Lys535del)
|
rs2068554810
|
|
|
NM_000744.7(CHRNA4):c.1616C>T (p.Ser539Leu)
|
|
|
|
NM_000744.7(CHRNA4):c.161C>G (p.Pro54Arg)
|
rs2145408375
|
|
|
NM_000744.7(CHRNA4):c.1620G>A (p.Val540=)
|
|
|
|
NM_000744.7(CHRNA4):c.1622C>T (p.Ser541Phe)
|
|
|
|
NM_000744.7(CHRNA4):c.1625C>A (p.Pro542Gln)
|
|
|
|
NM_000744.7(CHRNA4):c.1629C>G (p.Ser543Arg)
|
rs1044396
|
|
|
NM_000744.7(CHRNA4):c.162C>G (p.Pro54=)
|
|
|
|
NM_000744.7(CHRNA4):c.1631C>T (p.Ala544Val)
|
|
|
|
NM_000744.7(CHRNA4):c.1635_1636insTGCCACG (p.Val546fs)
|
|
|
|
NM_000744.7(CHRNA4):c.1636G>T (p.Val546Phe)
|
rs2123469901
|
|
|
NM_000744.7(CHRNA4):c.1638C>G (p.Val546=)
|
|
|
|
NM_000744.7(CHRNA4):c.1645C>G (p.Arg549Gly)
|
rs367658654
|
|
|
NM_000744.7(CHRNA4):c.1663C>T (p.Pro555Ser)
|
rs757510859
|
|
|
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.1686_1689del (p.Pro562_Ala563insTer)
|
|
|
|
NM_000744.7(CHRNA4):c.168C>A (p.Ala56=)
|
rs2145408353
|
|
|
NM_000744.7(CHRNA4):c.1692G>C (p.Leu564=)
|
|
|
|
NM_000744.7(CHRNA4):c.16C>A (p.Pro6Thr)
|
rs796052312
|
|
|
NM_000744.7(CHRNA4):c.1700C>G (p.Ala567Gly)
|
rs76895198
|
|
|
NM_000744.7(CHRNA4):c.1700C>T (p.Ala567Val)
|
rs76895198
|
|
|
NM_000744.7(CHRNA4):c.1719C>A (p.Tyr573Ter)
|
rs2123469625
|
|
|
NM_000744.7(CHRNA4):c.171C>T (p.Asn57=)
|
|
|
|
NM_000744.7(CHRNA4):c.1726G>A (p.Asp576Asn)
|
rs537904499
|
|
|
NM_000744.7(CHRNA4):c.1726G>C (p.Asp576His)
|
rs537904499
|
|
|
NM_000744.7(CHRNA4):c.1729C>T (p.His577Tyr)
|
|
|
|
NM_000744.7(CHRNA4):c.172A>G (p.Ile58Val)
|
rs760044129
|
|
|
NM_000744.7(CHRNA4):c.1740C>T (p.Ala580=)
|
|
|
|
NM_000744.7(CHRNA4):c.1746C>T (p.Asp582=)
|
rs201727307
|
|
|
NM_000744.7(CHRNA4):c.1748_1749del (p.Thr583fs)
|
rs772170088
|
|
|
NM_000744.7(CHRNA4):c.174C>G (p.Ile58Met)
|
rs2068772907
|
|
|
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+1G>T
|
|
|
|
NM_000744.7(CHRNA4):c.1758+8C>T
|
|
|
|
NM_000744.7(CHRNA4):c.1758G>A (p.Ser586=)
|
|
|
|
NM_000744.7(CHRNA4):c.1759-16G>A
|
|
|
|
NM_000744.7(CHRNA4):c.1759-18C>T
|
|
|
|
NM_000744.7(CHRNA4):c.1759-19A>C
|
|
|
|
NM_000744.7(CHRNA4):c.1762_1764del (p.Lys588del)
|
|
|
|
NM_000744.7(CHRNA4):c.1777T>G (p.Tyr593Asp)
|
|
|
|
NM_000744.7(CHRNA4):c.177G>C (p.Ser59=)
|
|
|
|
NM_000744.7(CHRNA4):c.177G>T (p.Ser59=)
|
rs138295365
|
|
|
NM_000744.7(CHRNA4):c.1780G>T (p.Val594Leu)
|
rs370887602
|
|
|
NM_000744.7(CHRNA4):c.1782G>A (p.Val594=)
|
|
|
|
NM_000744.7(CHRNA4):c.1792A>G (p.Ile598Val)
|
rs1019612389
|
|
|
NM_000744.7(CHRNA4):c.1800C>T (p.Arg600=)
|
rs2068503706
|
|
|
NM_000744.7(CHRNA4):c.1803C>T (p.Ile601=)
|
rs2123463774
|
|
|
NM_000744.7(CHRNA4):c.180C>G (p.Asp60Glu)
|
rs112051150
|
|
|
NM_000744.7(CHRNA4):c.180C>T (p.Asp60=)
|
|
|
|
NM_000744.7(CHRNA4):c.181G>T (p.Val61Leu)
|
rs150451372
|
|
|
NM_000744.7(CHRNA4):c.1825G>T (p.Val609Phe)
|
rs201168195
|
|
|
NM_000744.7(CHRNA4):c.183_195dup (p.Phe66fs)
|
|
|
|
NM_000744.7(CHRNA4):c.1841C>T (p.Thr614Met)
|
|
|
|
NM_000744.7(CHRNA4):c.1847G>T (p.Gly616Val)
|
rs796052324
|
|
|
NM_000744.7(CHRNA4):c.1848C>G (p.Gly616=)
|
|
|
|
NM_000744.7(CHRNA4):c.184G>A (p.Val62Ile)
|
|
|
|
NM_000744.7(CHRNA4):c.1854C>G (p.Phe618Leu)
|
rs1568805215
|
|
|
NM_000744.7(CHRNA4):c.1855C>T (p.Leu619=)
|
|
|
|
NM_000744.7(CHRNA4):c.1858C>T (p.Pro620Ser)
|
rs1218865781
|
|
|
NM_000744.7(CHRNA4):c.1859C>G (p.Pro620Arg)
|
rs754340834
|
|
|
NM_000744.7(CHRNA4):c.1864T>C (p.Trp622Arg)
|
|
|
|
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>A (p.Phe66Leu)
|
rs201018244
|
|
|
NM_000744.7(CHRNA4):c.198C>T (p.Phe66=)
|
rs201018244
|
|
|
NM_000744.7(CHRNA4):c.19G>A (p.Gly7Arg)
|
|
|
|
NM_000744.7(CHRNA4):c.1A>T (p.Met1Leu)
|
rs1359272155
|
|
|
NM_000744.7(CHRNA4):c.200G>A (p.Gly67Asp)
|
rs1568819500
|
|
|
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.20G>A (p.Gly7Glu)
|
|
|
|
NM_000744.7(CHRNA4):c.210C>A (p.Ile70=)
|
rs765247204
|
|
|
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.220A>C (p.Ile74Leu)
|
rs2068771449
|
|
|
NM_000744.7(CHRNA4):c.222T>C (p.Ile74=)
|
rs2145408221
|
|
|
NM_000744.7(CHRNA4):c.227T>G (p.Val76Gly)
|
|
|
|
NM_000744.7(CHRNA4):c.228+13G>A
|
rs45521136
|
|
|
NM_000744.7(CHRNA4):c.228+17C>T
|
|
|
|
NM_000744.7(CHRNA4):c.228+6T>A
|
|
|
|
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.245T>C (p.Met82Thr)
|
rs2068719750
|
|
|
NM_000744.7(CHRNA4):c.252C>T (p.Thr84=)
|
|
|
|
NM_000744.7(CHRNA4):c.255G>A (p.Thr85=)
|
rs145142528
|
|
|
NM_000744.7(CHRNA4):c.25C>T (p.Pro9Ser)
|
|
|
|
NM_000744.7(CHRNA4):c.261A>C (p.Val87=)
|
rs2145401998
|
|
|
NM_000744.7(CHRNA4):c.264G>A (p.Trp88Ter)
|
rs2145401994
|
|
|
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.274-3C>T
|
|
|
|
NM_000744.7(CHRNA4):c.274-9C>T
|
rs765669522
|
|
|
NM_000744.7(CHRNA4):c.27G>A (p.Pro9=)
|
|
|
|
NM_000744.7(CHRNA4):c.27_28delinsAG (p.Arg10Gly)
|
|
|
|
NM_000744.7(CHRNA4):c.28C>G (p.Arg10Gly)
|
rs2068813671
|
|
|
NM_000744.7(CHRNA4):c.28_29delinsTT (p.Arg10Leu)
|
|
|
|
NM_000744.7(CHRNA4):c.295C>T (p.Arg99Cys)
|
|
|
|
NM_000744.7(CHRNA4):c.29_40dup (p.Pro13_Pro14insArgLeuLeuPro)
|
|
|
|
NM_000744.7(CHRNA4):c.29_43dup (p.Arg10_Pro14dup)
|
rs777630161
|
|
|
NM_000744.7(CHRNA4):c.2T>C (p.Met1Thr)
|
rs2068814460
|
|
|
NM_000744.7(CHRNA4):c.301G>A (p.Asp101Asn)
|
rs1427242612
|
|
|
NM_000744.7(CHRNA4):c.305C>T (p.Pro102Leu)
|
rs759593635
|
|
|
NM_000744.7(CHRNA4):c.315T>C (p.Tyr105=)
|
|
|
|
NM_000744.7(CHRNA4):c.335G>A (p.Arg112His)
|
|
|
|
NM_000744.7(CHRNA4):c.33G>C (p.Leu11=)
|
|
|
|
NM_000744.7(CHRNA4):c.341C>T (p.Pro114Leu)
|
|
|
|
NM_000744.7(CHRNA4):c.345C>A (p.Ser115=)
|
rs201033859
|
|
|
NM_000744.7(CHRNA4):c.348G>C (p.Glu116Asp)
|
rs866334493
|
|
|
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.373C>T (p.Leu125Phe)
|
rs1568816521
|
|
|
NM_000744.7(CHRNA4):c.378CAA[1] (p.Asn128del)
|
|
|
|
NM_000744.7(CHRNA4):c.380A>G (p.Asn127Ser)
|
|
|
|
NM_000744.7(CHRNA4):c.382_383+1dup
|
rs2145400815
|
|
|
NM_000744.7(CHRNA4):c.383+14A>G
|
|
|
|
NM_000744.7(CHRNA4):c.383+15_383+32del
|
|
|
|
NM_000744.7(CHRNA4):c.383+16C>T
|
rs1211345378
|
|
|
NM_000744.7(CHRNA4):c.383+3G>A
|
|
|
|
NM_000744.7(CHRNA4):c.384-15T>G
|
|
|
|
NM_000744.7(CHRNA4):c.384-3C>G
|
rs894265779
|
|
|
NM_000744.7(CHRNA4):c.384-5C>T
|
|
|
|
NM_000744.7(CHRNA4):c.384-7T>C
|
|
|
|
NM_000744.7(CHRNA4):c.388G>C (p.Asp130His)
|
rs2068589553
|
|
|
NM_000744.7(CHRNA4):c.389A>G (p.Asp130Gly)
|
|
|
|
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_52del (p.Pro13_Leu17del)
|
rs771936944
|
|
|
NM_000744.7(CHRNA4):c.38_52dup (p.Pro13_Leu17dup)
|
rs771936944
|
|
|
NM_000744.7(CHRNA4):c.391G>T (p.Gly131Trp)
|
|
|
|
NM_000744.7(CHRNA4):c.39G>A (p.Pro13=)
|
rs1158391765
|
|
|
NM_000744.7(CHRNA4):c.403_409del (p.Val135fs)
|
|
|
|
NM_000744.7(CHRNA4):c.405C>A (p.Val135=)
|
|
|
|
NM_000744.7(CHRNA4):c.409C>G (p.His137Asp)
|
rs1326365559
|
|
|
NM_000744.7(CHRNA4):c.410A>G (p.His137Arg)
|
rs1380488577
|
|
|
NM_000744.7(CHRNA4):c.413T>A (p.Leu138Gln)
|
rs1379403896
|
|
|
NM_000744.7(CHRNA4):c.419A>G (p.Lys140Arg)
|
|
|
|
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.42GCT[5] (p.Leu19dup)
|
rs1053984520
|
|
|
NM_000744.7(CHRNA4):c.431T>G (p.Phe144Cys)
|
|
|
|
NM_000744.7(CHRNA4):c.431del (p.Phe144fs)
|
rs2068588736
|
|
|
NM_000744.7(CHRNA4):c.434A>G (p.His145Arg)
|
rs2123473347
|
|
|
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.439G>T (p.Gly147Trp)
|
rs780556996
|
|
|
NM_000744.7(CHRNA4):c.441G>A (p.Gly147=)
|
rs2123473322
|
|
|
NM_000744.7(CHRNA4):c.443G>A (p.Arg148Gln)
|
|
|
|
NM_000744.7(CHRNA4):c.447G>T (p.Val149=)
|
rs2068588322
|
|
|
NM_000744.7(CHRNA4):c.448C>A (p.Gln150Lys)
|
rs200747769
|
|
|
NM_000744.7(CHRNA4):c.448C>T (p.Gln150Ter)
|
rs200747769
|
|
|
NM_000744.7(CHRNA4):c.44T>C (p.Leu15Pro)
|
rs886044055
|
|
|
NM_000744.7(CHRNA4):c.466A>G (p.Ile156Val)
|
rs754895704
|
|
|
NM_000744.7(CHRNA4):c.471C>T (p.Tyr157=)
|
|
|
|
NM_000744.7(CHRNA4):c.477C>T (p.Ser159=)
|
rs2068587734
|
|
|
NM_000744.7(CHRNA4):c.479C>G (p.Ser160Cys)
|
rs201421555
|
|
|
NM_000744.7(CHRNA4):c.489C>T (p.Ile163=)
|
rs61734382
|
|
|
NM_000744.7(CHRNA4):c.496A>T (p.Thr166Ser)
|
rs1568810867
|
|
|
NM_000744.7(CHRNA4):c.4G>C (p.Glu2Gln)
|
rs2145412501
|
|
|
NM_000744.7(CHRNA4):c.505C>T (p.Pro169Ser)
|
|
|
|
NM_000744.7(CHRNA4):c.506C>G (p.Pro169Arg)
|
rs199519224
|
|
|
NM_000744.7(CHRNA4):c.506C>T (p.Pro169Leu)
|
rs199519224
|
|
|
NM_000744.7(CHRNA4):c.507del (p.Phe170fs)
|
rs1250589502
|
|
|
NM_000744.7(CHRNA4):c.511G>A (p.Asp171Asn)
|
rs1352017376
|
|
|
NM_000744.7(CHRNA4):c.515A>G (p.Gln172Arg)
|
rs2068586894
|
|
|
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.522C>A (p.Asn174Lys)
|
rs2068586748
|
|
|
NM_000744.7(CHRNA4):c.522C>G (p.Asn174Lys)
|
rs2068586748
|
|
|
NM_000744.7(CHRNA4):c.52_57dup (p.Leu18_Leu19dup)
|
rs2068812649
|
|
|
NM_000744.7(CHRNA4):c.538G>A (p.Gly180Ser)
|
|
|
|
NM_000744.7(CHRNA4):c.552C>G (p.Tyr184Ter)
|
rs112301452
|
|
|
NM_000744.7(CHRNA4):c.555C>T (p.Asp185=)
|
rs2123473061
|
|
|
NM_000744.7(CHRNA4):c.565A>G (p.Ile189Val)
|
|
|
|
NM_000744.7(CHRNA4):c.568G>T (p.Asp190Tyr)
|
rs750232429
|
|
|
NM_000744.7(CHRNA4):c.576G>A (p.Val192=)
|
|
|
|
NM_000744.7(CHRNA4):c.57G>A (p.Leu19=)
|
rs927241644
|
|
|
NM_000744.7(CHRNA4):c.580A>G (p.Met194Val)
|
|
|
|
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.605A>C (p.Asp202Ala)
|
|
|
|
NM_000744.7(CHRNA4):c.613G>A (p.Glu205Lys)
|
|
|
|
NM_000744.7(CHRNA4):c.615G>C (p.Glu205Asp)
|
rs2123472933
|
|
|
NM_000744.7(CHRNA4):c.618T>C (p.Ser206=)
|
rs1057521157
|
|
|
NM_000744.7(CHRNA4):c.622G>A (p.Glu208Lys)
|
rs771249249
|
|
|
NM_000744.7(CHRNA4):c.629T>C (p.Val210Ala)
|
rs1252975373
|
|
|
NM_000744.7(CHRNA4):c.631A>G (p.Ile211Val)
|
rs749493840
|
|
|
NM_000744.7(CHRNA4):c.633C>A (p.Ile211=)
|
rs769813725
|
|
|
NM_000744.7(CHRNA4):c.634G>A (p.Val212Met)
|
|
|
|
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.643G>A (p.Val215Met)
|
rs918550714
|
|
|
NM_000744.7(CHRNA4):c.647G>C (p.Gly216Ala)
|
|
|
|
NM_000744.7(CHRNA4):c.656A>C (p.Asn219Thr)
|
rs201645533
|
|
|
NM_000744.7(CHRNA4):c.663G>T (p.Arg221Ser)
|
|
|
|
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>A (p.Ala227=)
|
rs45588436
|
|
|
NM_000744.7(CHRNA4):c.681C>G (p.Ala227=)
|
rs45588436
|
|
|
NM_000744.7(CHRNA4):c.681C>T (p.Ala227=)
|
|
|
|
NM_000744.7(CHRNA4):c.682G>A (p.Glu228Lys)
|
rs1064795157
|
|
|
NM_000744.7(CHRNA4):c.683A>T (p.Glu228Val)
|
rs1568810474
|
|
|
NM_000744.7(CHRNA4):c.687C>A (p.Ile229=)
|
rs200063611
|
|
|
NM_000744.7(CHRNA4):c.704A>G (p.Tyr235Cys)
|
|
|
|
NM_000744.7(CHRNA4):c.708C>G (p.Ala236=)
|
|
|
|
NM_000744.7(CHRNA4):c.720G>C (p.Arg240=)
|
rs777500590
|
|
|
NM_000744.7(CHRNA4):c.721C>G (p.Arg241Gly)
|
|
|
|
NM_000744.7(CHRNA4):c.727C>A (p.Pro243Thr)
|
rs1568810345
|
|
|
NM_000744.7(CHRNA4):c.72G>A (p.Leu24=)
|
|
|
|
NM_000744.7(CHRNA4):c.731T>C (p.Leu244Pro)
|
rs2123472530
|
|
|
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.748C>T (p.Leu250Phe)
|
rs759579810
|
|
|
NM_000744.7(CHRNA4):c.74G>A (p.Arg25His)
|
|
|
|
NM_000744.7(CHRNA4):c.755T>C (p.Ile252Thr)
|
rs1601476010
|
|
|
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+1G>A
|
rs2068812210
|
|
|
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.771C>G (p.Ile257Met)
|
|
|
|
NM_000744.7(CHRNA4):c.775_840dup (p.Ser280_Val281insCysLeuThrValLeuValPheTyrLeuProSerGluCysGlyGluLysIleThrLeuCysIleSer)
|
|
|
|
NM_000744.7(CHRNA4):c.777C>T (p.Cys259=)
|
rs1555837947
|
|
|
NM_000744.7(CHRNA4):c.778C>T (p.Leu260Phe)
|
|
|
|
NM_000744.7(CHRNA4):c.77C>T (p.Ala26Val)
|
rs761362001
|
|
|
NM_000744.7(CHRNA4):c.790G>A (p.Val264Ile)
|
rs2068579848
|
|
|
NM_000744.7(CHRNA4):c.792C>G (p.Val264=)
|
|
|
|
NM_000744.7(CHRNA4):c.797A>G (p.Tyr266Cys)
|
|
|
|
NM_000744.7(CHRNA4):c.799C>T (p.Leu267=)
|
rs121912256
|
|
|
NM_000744.7(CHRNA4):c.800T>G (p.Leu267Arg)
|
rs2068579508
|
|
|
NM_000744.7(CHRNA4):c.801G>A (p.Leu267=)
|
rs747762347
|
|
|
NM_000744.7(CHRNA4):c.802C>T (p.Pro268Ser)
|
|
|
|
NM_000744.7(CHRNA4):c.804C>T (p.Pro268=)
|
|
|
|
NM_000744.7(CHRNA4):c.806C>G (p.Ser269Cys)
|
rs2123472338
|
|
|
NM_000744.7(CHRNA4):c.808G>C (p.Glu270Gln)
|
|
|
|
NM_000744.7(CHRNA4):c.810G>C (p.Glu270Asp)
|
rs2123472324
|
|
|
NM_000744.7(CHRNA4):c.810G>T (p.Glu270Asp)
|
|
|
|
NM_000744.7(CHRNA4):c.816C>T (p.Gly272=)
|
rs981113016
|
|
|
NM_000744.7(CHRNA4):c.819G>A (p.Glu273=)
|
|
|
|
NM_000744.7(CHRNA4):c.81C>A (p.Ser27Arg)
|
rs1211831892
|
|
|
NM_000744.7(CHRNA4):c.825C>A (p.Ile275=)
|
|
|
|
NM_000744.7(CHRNA4):c.825C>G (p.Ile275Met)
|
|
|
|
NM_000744.7(CHRNA4):c.830T>C (p.Leu277Pro)
|
rs2068578781
|
|
|
NM_000744.7(CHRNA4):c.831G>A (p.Leu277=)
|
|
|
|
NM_000744.7(CHRNA4):c.831G>T (p.Leu277=)
|
rs762201442
|
|
|
NM_000744.7(CHRNA4):c.839C>G (p.Ser280Cys)
|
rs121909580
|
|
|
NM_000744.7(CHRNA4):c.839C>T (p.Ser280Phe)
|
rs121909580
|
|
|
NM_000744.7(CHRNA4):c.844C>G (p.Leu282Val)
|
rs1601475770
|
|
|
NM_000744.7(CHRNA4):c.851C>G (p.Ser284Trp)
|
rs28931591
|
|
|
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu)
|
rs28931591
|
|
|
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.867GCT[3] (p.Leu291dup)
|
rs281865067
|
|
|
NM_000744.7(CHRNA4):c.871C>T (p.Leu291Phe)
|
|
|
|
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.88G>C (p.Val30Leu)
|
rs746557446
|
|
|
NM_000744.7(CHRNA4):c.890C>T (p.Pro297Leu)
|
|
|
|
NM_000744.7(CHRNA4):c.891G>A (p.Pro297=)
|
|
|
|
NM_000744.7(CHRNA4):c.8T>A (p.Leu3Gln)
|
rs2145412488
|
|
|
NM_000744.7(CHRNA4):c.901C>T (p.Leu301=)
|
rs2123472082
|
|
|
NM_000744.7(CHRNA4):c.913C>G (p.Leu305Val)
|
rs2123472055
|
|
|
NM_000744.7(CHRNA4):c.918C>T (p.Ile306=)
|
|
|
|
NM_000744.7(CHRNA4):c.919G>A (p.Gly307Ser)
|
rs764586079
|
|
|
NM_000744.7(CHRNA4):c.922G>T (p.Glu308Ter)
|
rs1369167310
|
|
|
NM_000744.7(CHRNA4):c.936C>T (p.Phe312=)
|
rs2123472003
|
|
|
NM_000744.7(CHRNA4):c.940A>T (p.Met314Leu)
|
|
|
|
NM_000744.7(CHRNA4):c.942G>A (p.Met314Ile)
|
|
|
|
NM_000744.7(CHRNA4):c.946T>G (p.Phe316Val)
|
|
|
|
NM_000744.7(CHRNA4):c.950T>A (p.Val317Asp)
|
rs2068575976
|
|
|
NM_000744.7(CHRNA4):c.953C>A (p.Thr318Asn)
|
rs121912260
|
|
|
NM_000744.7(CHRNA4):c.956T>A (p.Leu319Gln)
|
|
|
|
NM_000744.7(CHRNA4):c.956T>C (p.Leu319Pro)
|
rs1315507965
|
|
|
NM_000744.7(CHRNA4):c.957G>A (p.Leu319=)
|
rs761872673
|
|
|
NM_000744.7(CHRNA4):c.973G>A (p.Val325Ile)
|
|
|
|
NM_000744.7(CHRNA4):c.975C>T (p.Val325=)
|
|
|
|
NM_000744.7(CHRNA4):c.979G>C (p.Val327Leu)
|
|
|
|
NM_000744.7(CHRNA4):c.97C>T (p.Arg33Trp)
|
rs370553755
|
|
|
NM_000744.7(CHRNA4):c.9del (p.Gly5fs)
|
rs2145412485
|
|
|
NM_000748.3(CHRNB2):c.1003G>A (p.Val335Met)
|
|
|
|
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.1017C>A (p.Phe339Leu)
|
rs756041212
|
|
|
NM_000748.3(CHRNB2):c.1018C>T (p.Leu340=)
|
rs2101521714
|
|
|
NM_000748.3(CHRNB2):c.1033G>A (p.Ala345Thr)
|
rs927693883
|
|
|
NM_000748.3(CHRNB2):c.1035_1036delinsTT (p.Ala345_Leu346=)
|
rs1571022654
|
|
|
NM_000748.3(CHRNB2):c.1040T>C (p.Leu347Pro)
|
|
|
|
NM_000748.3(CHRNB2):c.1049A>G (p.Gln350Arg)
|
|
|
|
NM_000748.3(CHRNB2):c.106C>T (p.Leu36Phe)
|
rs1557850747
|
|
|
NM_000748.3(CHRNB2):c.1073G>C (p.Arg358Pro)
|
|
|
|
NM_000748.3(CHRNB2):c.1078C>T (p.Arg360Cys)
|
rs2101521916
|
|
|
NM_000748.3(CHRNB2):c.1080CCTGCG[3] (p.361LR[3])
|
rs781654245
|
|
|
NM_000748.3(CHRNB2):c.1088_1093dup (p.361LR[3])
|
rs2101521963
|
|
|
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.1094G>T (p.Arg365Leu)
|
|
|
|
NM_000748.3(CHRNB2):c.1096C>T (p.Arg366Cys)
|
|
|
|
NM_000748.3(CHRNB2):c.1097_1099dup (p.Arg366_Gln367insArg)
|
|
|
|
NM_000748.3(CHRNB2):c.1098C>A (p.Arg366=)
|
|
|
|
NM_000748.3(CHRNB2):c.10C>A (p.Arg4Ser)
|
|
|
|
NM_000748.3(CHRNB2):c.1100A>G (p.Gln367Arg)
|
|
|
|
NM_000748.3(CHRNB2):c.1102C>G (p.Arg368Gly)
|
|
|
|
NM_000748.3(CHRNB2):c.1109G>A (p.Arg370His)
|
rs200483865
|
|
|
NM_000748.3(CHRNB2):c.1111G>A (p.Glu371Lys)
|
rs1696175893
|
|
|
NM_000748.3(CHRNB2):c.1111_1118del (p.Glu371fs)
|
|
|
|
NM_000748.3(CHRNB2):c.1126C>G (p.Leu376Val)
|
|
|
|
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.1150G>A (p.Ala384Thr)
|
rs2101522239
|
|
|
NM_000748.3(CHRNB2):c.1152C>A (p.Ala384=)
|
rs746495548
|
|
|
NM_000748.3(CHRNB2):c.1169T>C (p.Phe390Ser)
|
rs2101522326
|
|
|
NM_000748.3(CHRNB2):c.1171G>C (p.Val391Leu)
|
rs770055798
|
|
|
NM_000748.3(CHRNB2):c.1176C>A (p.Asn392Lys)
|
rs560427247
|
|
|
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.1190A>C (p.Gln397Pro)
|
|
|
|
NM_000748.3(CHRNB2):c.1190A>G (p.Gln397Arg)
|
rs200441832
|
|
|
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.1210G>C (p.Gly404Arg)
|
|
|
|
NM_000748.3(CHRNB2):c.1215T>A (p.Ala405=)
|
|
|
|
NM_000748.3(CHRNB2):c.1215T>C (p.Ala405=)
|
|
|
|
NM_000748.3(CHRNB2):c.121C>T (p.Arg41Cys)
|
rs1174834370
|
|
|
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.1240G>A (p.Gly414Arg)
|
rs1024048381
|
|
|
NM_000748.3(CHRNB2):c.1240G>C (p.Gly414Arg)
|
rs1024048381
|
|
|
NM_000748.3(CHRNB2):c.1242G>C (p.Gly414=)
|
rs1553204404
|
|
|
NM_000748.3(CHRNB2):c.1244G>A (p.Arg415His)
|
rs971173003
|
|
|
NM_000748.3(CHRNB2):c.1244G>C (p.Arg415Pro)
|
|
|
|
NM_000748.3(CHRNB2):c.1249G>A (p.Gly417Arg)
|
rs1057520852
|
|
|
NM_000748.3(CHRNB2):c.1252G>T (p.Glu418Ter)
|
rs1375045864
|
|
|
NM_000748.3(CHRNB2):c.1256C>A (p.Pro419Gln)
|
rs908723251
|
|
|
NM_000748.3(CHRNB2):c.1257G>A (p.Pro419=)
|
rs199743038
|
|
|
NM_000748.3(CHRNB2):c.1270C>T (p.Leu424Phe)
|
rs2101522745
|
|
|
NM_000748.3(CHRNB2):c.1275G>C (p.Arg425=)
|
|
|
|
NM_000748.3(CHRNB2):c.1282G>A (p.Val428Met)
|
|
|
|
NM_000748.3(CHRNB2):c.1285G>A (p.Asp429Asn)
|
|
|
|
NM_000748.3(CHRNB2):c.1288G>C (p.Gly430Arg)
|
|
|
|
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.1300A>T (p.Ile434Phe)
|
rs1171180526
|
|
|
NM_000748.3(CHRNB2):c.1316G>A (p.Arg439Gln)
|
|
|
|
NM_000748.3(CHRNB2):c.1333C>G (p.Gln445Glu)
|
|
|
|
NM_000748.3(CHRNB2):c.1335G>C (p.Gln445His)
|
rs1557852381
|
|
|
NM_000748.3(CHRNB2):c.1338+10G>T
|
rs903039235
|
|
|
NM_000748.3(CHRNB2):c.1338_1339insTGGA (p.Val447fs)
|
|
|
|
NM_000748.3(CHRNB2):c.1339-15G>A
|
rs756629260
|
|
|
NM_000748.3(CHRNB2):c.1341G>T (p.Val447=)
|
|
|
|
NM_000748.3(CHRNB2):c.1343G>C (p.Ser448Thr)
|
|
|
|
NM_000748.3(CHRNB2):c.1343G>T (p.Ser448Ile)
|
rs774575734
|
|
|
NM_000748.3(CHRNB2):c.1344_1347del (p.Ser448fs)
|
rs1696260248
|
|
|
NM_000748.3(CHRNB2):c.1359C>G (p.Tyr453Ter)
|
rs761717685
|
|
|
NM_000748.3(CHRNB2):c.1362C>T (p.Val454=)
|
|
|
|
NM_000748.3(CHRNB2):c.1364C>T (p.Ala455Val)
|
|
|
|
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.1378C>T (p.Arg460Cys)
|
rs202079239
|
|
|
NM_000748.3(CHRNB2):c.1379G>A (p.Arg460His)
|
rs1297214421
|
|
|
NM_000748.3(CHRNB2):c.1382T>C (p.Leu461Pro)
|
rs1696261435
|
|
|
NM_000748.3(CHRNB2):c.138C>T (p.Ile46=)
|
rs775128215
|
|
|
NM_000748.3(CHRNB2):c.1395C>T (p.Ile465=)
|
|
|
|
NM_000748.3(CHRNB2):c.13T>C (p.Cys5Arg)
|
|
|
|
NM_000748.3(CHRNB2):c.13T>G (p.Cys5Gly)
|
rs1261047629
|
|
|
NM_000748.3(CHRNB2):c.1400T>C (p.Val467Ala)
|
|
|
|
NM_000748.3(CHRNB2):c.1402T>C (p.Phe468Leu)
|
|
|
|
NM_000748.3(CHRNB2):c.1407_1410del (p.Cys470fs)
|
rs796052332
|
|
|
NM_000748.3(CHRNB2):c.1417G>A (p.Gly473Ser)
|
rs1696262468
|
|
|
NM_000748.3(CHRNB2):c.1423A>G (p.Ile475Val)
|
rs202135710
|
|
|
NM_000748.3(CHRNB2):c.1426G>A (p.Gly476Ser)
|
|
|
|
NM_000748.3(CHRNB2):c.1430T>C (p.Met477Thr)
|
|
|
|
NM_000748.3(CHRNB2):c.1434C>A (p.Phe478Leu)
|
|
|
|
NM_000748.3(CHRNB2):c.1438C>T (p.Gln480Ter)
|
|
|
|
NM_000748.3(CHRNB2):c.1439_1441del (p.Gln480del)
|
|
|
|
NM_000748.3(CHRNB2):c.1442C>T (p.Pro481Leu)
|
rs1696263260
|
|
|
NM_000748.3(CHRNB2):c.1451A>G (p.Gln484Arg)
|
rs1275049751
|
|
|
NM_000748.3(CHRNB2):c.1458C>T (p.Tyr486=)
|
|
|
|
NM_000748.3(CHRNB2):c.146C>T (p.Ala49Val)
|
|
|
|
NM_000748.3(CHRNB2):c.1470C>T (p.Thr490=)
|
|
|
|
NM_000748.3(CHRNB2):c.1474C>T (p.Leu492Phe)
|
|
|
|
NM_000748.3(CHRNB2):c.1481C>T (p.Ser494Leu)
|
|
|
|
NM_000748.3(CHRNB2):c.1487A>C (p.His496Pro)
|
|
|
|
NM_000748.3(CHRNB2):c.1499G>A (p.Ser500Asn)
|
|
|
|
NM_000748.3(CHRNB2):c.149C>G (p.Thr50Ser)
|
rs762363770
|
|
|
NM_000748.3(CHRNB2):c.14G>C (p.Cys5Ser)
|
rs2149365741
|
|
|
NM_000748.3(CHRNB2):c.1503C>G (p.Ser501=)
|
|
|
|
NM_000748.3(CHRNB2):c.152A>G (p.Asn51Ser)
|
|
|
|
NM_000748.3(CHRNB2):c.154G>A (p.Gly52Ser)
|
rs1553204015
|
|
|
NM_000748.3(CHRNB2):c.166G>C (p.Val56Leu)
|
|
|
|
NM_000748.3(CHRNB2):c.16_31dup (p.Leu11fs)
|
|
|
|
NM_000748.3(CHRNB2):c.175C>T (p.Gln59Ter)
|
rs1696125297
|
|
|
NM_000748.3(CHRNB2):c.177G>A (p.Gln59=)
|
|
|
|
NM_000748.3(CHRNB2):c.17G>A (p.Gly6Asp)
|
rs1304588530
|
|
|
NM_000748.3(CHRNB2):c.184G>A (p.Val62Met)
|
|
|
|
NM_000748.3(CHRNB2):c.1A>G (p.Met1Val)
|
|
|
|
NM_000748.3(CHRNB2):c.1A>T (p.Met1Leu)
|
rs2149365728
|
|
|
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.211-3C>A
|
|
|
|
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.21del (p.Val8fs)
|
rs2149365744
|
|
|
NM_000748.3(CHRNB2):c.223C>G (p.Gln75Glu)
|
rs2149366248
|
|
|
NM_000748.3(CHRNB2):c.22G>C (p.Val8Leu)
|
rs772815972
|
|
|
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.255+7G>C
|
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.256-1G>A
|
|
|
|
NM_000748.3(CHRNB2):c.262G>A (p.Glu88Lys)
|
rs1182581432
|
|
|
NM_000748.3(CHRNB2):c.27G>T (p.Ala9=)
|
|
|
|
NM_000748.3(CHRNB2):c.281G>C (p.Trp94Ser)
|
rs2101518911
|
|
|
NM_000748.3(CHRNB2):c.297del (p.Phe99fs)
|
rs1696138351
|
|
|
NM_000748.3(CHRNB2):c.2T>A (p.Met1Lys)
|
rs1430279652
|
|
|
NM_000748.3(CHRNB2):c.301A>C (p.Asn101His)
|
rs929185848
|
|
|
NM_000748.3(CHRNB2):c.301A>G (p.Asn101Asp)
|
rs929185848
|
|
|
NM_000748.3(CHRNB2):c.306G>A (p.Met102Ile)
|
rs1696138605
|
|
|
NM_000748.3(CHRNB2):c.313G>A (p.Val105Ile)
|
|
|
|
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.344C>T (p.Pro115Leu)
|
rs2101519039
|
|
|
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.365+2T>C
|
rs1440177267
|
|
|
NM_000748.3(CHRNB2):c.366T>C (p.Asn122=)
|
rs748227150
|
|
|
NM_000748.3(CHRNB2):c.393C>T (p.Phe131=)
|
|
|
|
NM_000748.3(CHRNB2):c.401A>G (p.Asn134Ser)
|
|
|
|
NM_000748.3(CHRNB2):c.402T>A (p.Asn134Lys)
|
rs760458701
|
|
|
NM_000748.3(CHRNB2):c.402T>C (p.Asn134=)
|
rs760458701
|
|
|
NM_000748.3(CHRNB2):c.404C>T (p.Ala135Val)
|
rs1060502835
|
|
|
NM_000748.3(CHRNB2):c.405C>G (p.Ala135=)
|
rs777250519
|
|
|
NM_000748.3(CHRNB2):c.410T>G (p.Val137Gly)
|
|
|
|
NM_000748.3(CHRNB2):c.411C>T (p.Val137=)
|
|
|
|
NM_000748.3(CHRNB2):c.416A>G (p.Tyr139Cys)
|
|
|
|
NM_000748.3(CHRNB2):c.423C>T (p.Gly141=)
|
rs1696159240
|
|
|
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.448A>G (p.Ile150Val)
|
rs1557851437
|
|
|
NM_000748.3(CHRNB2):c.456G>A (p.Lys152=)
|
rs2101520375
|
|
|
NM_000748.3(CHRNB2):c.462A>G (p.Ala154=)
|
|
|
|
NM_000748.3(CHRNB2):c.466A>G (p.Lys156Glu)
|
|
|
|
NM_000748.3(CHRNB2):c.470T>A (p.Ile157Asn)
|
|
|
|
NM_000748.3(CHRNB2):c.481C>T (p.His161Tyr)
|
rs1282479699
|
|
|
NM_000748.3(CHRNB2):c.485T>C (p.Phe162Ser)
|
rs1696160348
|
|
|
NM_000748.3(CHRNB2):c.498G>A (p.Gln166=)
|
rs2101520429
|
|
|
NM_000748.3(CHRNB2):c.4G>T (p.Ala2Ser)
|
rs2149365730
|
|
|
NM_000748.3(CHRNB2):c.50T>A (p.Leu17His)
|
|
|
|
NM_000748.3(CHRNB2):c.520dup (p.Arg174fs)
|
|
|
|
NM_000748.3(CHRNB2):c.524C>G (p.Ser175Trp)
|
rs75760566
|
|
|
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.535G>A (p.Asp179Asn)
|
rs760490640
|
|
|
NM_000748.3(CHRNB2):c.539G>C (p.Arg180Pro)
|
rs768297928
|
|
|
NM_000748.3(CHRNB2):c.544del (p.Glu182fs)
|
|
|
|
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.554T>C (p.Leu185Ser)
|
rs1696161618
|
|
|
NM_000748.3(CHRNB2):c.571G>T (p.Val191Leu)
|
rs2101520587
|
|
|
NM_000748.3(CHRNB2):c.578G>T (p.Ser193Ile)
|
rs2101520597
|
|
|
NM_000748.3(CHRNB2):c.57G>A (p.Leu19=)
|
rs2149365770
|
|
|
NM_000748.3(CHRNB2):c.58T>C (p.Cys20Arg)
|
|
|
|
NM_000748.3(CHRNB2):c.593C>T (p.Thr198Ile)
|
|
|
|
NM_000748.3(CHRNB2):c.599G>A (p.Ser200Asn)
|
|
|
|
NM_000748.3(CHRNB2):c.60C>T (p.Cys20=)
|
|
|
|
NM_000748.3(CHRNB2):c.620C>G (p.Ala207Gly)
|
rs201622476
|
|
|
NM_000748.3(CHRNB2):c.622C>T (p.Leu208=)
|
rs906389720
|
|
|
NM_000748.3(CHRNB2):c.626C>T (p.Pro209Leu)
|
|
|
|
NM_000748.3(CHRNB2):c.63A>G (p.Ser21=)
|
|
|
|
NM_000748.3(CHRNB2):c.64+13C>T
|
|
|
|
NM_000748.3(CHRNB2):c.64+17C>T
|
|
|
|
NM_000748.3(CHRNB2):c.64+3A>G
|
|
|
|
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.648del (p.Asp217fs)
|
rs2101520745
|
|
|
NM_000748.3(CHRNB2):c.649G>A (p.Asp217Asn)
|
|
|
|
NM_000748.3(CHRNB2):c.65-2A>G
|
|
|
|
NM_000748.3(CHRNB2):c.65-2del
|
rs1696121118
|
|
|
NM_000748.3(CHRNB2):c.652G>A (p.Asp218Asn)
|
rs1429118769
|
|
|
NM_000748.3(CHRNB2):c.653A>C (p.Asp218Ala)
|
rs2101520790
|
|
|
NM_000748.3(CHRNB2):c.65G>A (p.Gly22Glu)
|
|
|
|
NM_000748.3(CHRNB2):c.660G>A (p.Thr220=)
|
|
|
|
NM_000748.3(CHRNB2):c.663C>T (p.Tyr221=)
|
|
|
|
NM_000748.3(CHRNB2):c.664G>C (p.Val222Leu)
|
rs1453075590
|
|
|
NM_000748.3(CHRNB2):c.674C>G (p.Thr225Arg)
|
rs201952018
|
|
|
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.687C>G (p.Ile229Met)
|
rs1244782091
|
|
|
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.701C>T (p.Pro234Leu)
|
|
|
|
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.732_733del (p.Val246fs)
|
rs2101520989
|
|
|
NM_000748.3(CHRNB2):c.754G>A (p.Ala252Thr)
|
rs2101521069
|
|
|
NM_000748.3(CHRNB2):c.756C>T (p.Ala252=)
|
|
|
|
NM_000748.3(CHRNB2):c.785G>A (p.Cys262Tyr)
|
|
|
|
NM_000748.3(CHRNB2):c.78G>A (p.Thr26=)
|
rs143402032
|
|
|
NM_000748.3(CHRNB2):c.78G>T (p.Thr26=)
|
|
|
|
NM_000748.3(CHRNB2):c.790G>A (p.Glu264Lys)
|
rs1212070745
|
|
|
NM_000748.3(CHRNB2):c.791AGA[1] (p.Lys265del)
|
|
|
|
NM_000748.3(CHRNB2):c.796A>T (p.Met266Leu)
|
rs2101521127
|
|
|
NM_000748.3(CHRNB2):c.801G>A (p.Thr267=)
|
rs200331379
|
|
|
NM_000748.3(CHRNB2):c.801G>C (p.Thr267=)
|
|
|
|
NM_000748.3(CHRNB2):c.806_807delinsAA (p.Cys269Ter)
|
|
|
|
NM_000748.3(CHRNB2):c.811_812del (p.Val272fs)
|
|
|
|
NM_000748.3(CHRNB2):c.819G>C (p.Leu273=)
|
rs745793301
|
|
|
NM_000748.3(CHRNB2):c.820del (p.Leu274fs)
|
|
|
|
NM_000748.3(CHRNB2):c.824C>T (p.Ala275Val)
|
rs201393088
|
|
|
NM_000748.3(CHRNB2):c.82A>G (p.Thr28Ala)
|
rs2149366120
|
|
|
NM_000748.3(CHRNB2):c.833T>C (p.Val278Ala)
|
rs2101521195
|
|
|
NM_000748.3(CHRNB2):c.844C>T (p.Leu282Phe)
|
rs1387572771
|
|
|
NM_000748.3(CHRNB2):c.845T>A (p.Leu282His)
|
rs1696167453
|
|
|
NM_000748.3(CHRNB2):c.846C>T (p.Leu282=)
|
rs1322383536
|
|
|
NM_000748.3(CHRNB2):c.847A>T (p.Ile283Phe)
|
rs1388744144
|
|
|
NM_000748.3(CHRNB2):c.847dup (p.Ile283fs)
|
rs2101521229
|
|
|
NM_000748.3(CHRNB2):c.859G>A (p.Val287Met)
|
rs74315291
|
|
|
NM_000748.3(CHRNB2):c.859G>C (p.Val287Leu)
|
rs74315291
|
|
|
NM_000748.3(CHRNB2):c.859G>T (p.Val287Leu)
|
|
|
|
NM_000748.3(CHRNB2):c.859_867del (p.Val287_Pro289del)
|
rs2101521275
|
|
|
NM_000748.3(CHRNB2):c.863C>T (p.Pro288Leu)
|
|
|
|
NM_000748.3(CHRNB2):c.877G>A (p.Asp293Asn)
|
|
|
|
NM_000748.3(CHRNB2):c.880G>A (p.Val294Met)
|
|
|
|
NM_000748.3(CHRNB2):c.884C>T (p.Pro295Leu)
|
|
|
|
NM_000748.3(CHRNB2):c.885G>A (p.Pro295=)
|
|
|
|
NM_000748.3(CHRNB2):c.893G>A (p.Gly298Asp)
|
rs868235334
|
|
|
NM_000748.3(CHRNB2):c.893G>T (p.Gly298Val)
|
rs868235334
|
|
|
NM_000748.3(CHRNB2):c.911C>T (p.Thr304Ile)
|
|
|
|
NM_000748.3(CHRNB2):c.918G>A (p.Val306=)
|
|
|
|
NM_000748.3(CHRNB2):c.919C>A (p.Leu307Ile)
|
rs200720061
|
|
|
NM_000748.3(CHRNB2):c.91C>A (p.Arg31=)
|
rs145926853
|
|
|
NM_000748.3(CHRNB2):c.91C>T (p.Arg31Trp)
|
|
|
|
NM_000748.3(CHRNB2):c.923T>C (p.Val308Ala)
|
rs281865070
|
|
|
NM_000748.3(CHRNB2):c.929T>A (p.Phe310Tyr)
|
rs2101521485
|
|
|
NM_000748.3(CHRNB2):c.930del (p.Ser311fs)
|
rs1696170002
|
|
|
NM_000748.3(CHRNB2):c.937G>A (p.Val313Ile)
|
rs770557644
|
|
|
NM_000748.3(CHRNB2):c.946G>T (p.Val316Leu)
|
|
|
|
NM_000748.3(CHRNB2):c.951C>T (p.Cys317=)
|
|
|
|
NM_000748.3(CHRNB2):c.953T>C (p.Val318Ala)
|
rs2101521543
|
|
|
NM_000748.3(CHRNB2):c.955C>G (p.Leu319Val)
|
|
|
|
NM_000748.3(CHRNB2):c.960C>A (p.Asn320Lys)
|
|
|
|
NM_000748.3(CHRNB2):c.961G>C (p.Val321Leu)
|
|
|
|
NM_000748.3(CHRNB2):c.970C>T (p.Arg324Cys)
|
|
|
|
NM_000748.3(CHRNB2):c.971_972delinsTA (p.Arg324Leu)
|
|
|
|
NM_000748.3(CHRNB2):c.974C>T (p.Ser325Leu)
|
rs1571022546
|
|
|
NM_000748.3(CHRNB2):c.977C>T (p.Pro326Leu)
|
|
|
|
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_000806.5(GABRA1):c.-438del
|
rs112361424
|
|
|
NM_000806.5(GABRA1):c.-442dup
|
rs201310567
|
|
|
NM_000834.5(GRIN2B):c.4315C>G (p.Pro1439Ala)
|
rs758042475
|
|
|
NM_001003787.4(STRADA):c.179G>T (p.Ser60Ile)
|
rs56271007
|
|
|
NM_001003787.4(STRADA):c.190C>T (p.Pro64Ser)
|
rs55695051
|
|
|
NM_001003787.4(STRADA):c.403G>A (p.Ala135Thr)
|
rs1555699052
|
|
|
NM_001039476.1(NPRL3):c.931=
|
|
|
|
NM_001040142.2(SCN2A):c.2182T>C (p.Cys728Arg)
|
rs1553574522
|
|
|
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys)
|
rs200138205
|
|
|
NM_001077350.3(NPRL3):c.1003A>T (p.Met335Leu)
|
rs1405349026
|
|
|
NM_001077350.3(NPRL3):c.1014C>T (p.Pro338=)
|
|
|
|
NM_001077350.3(NPRL3):c.1015A>G (p.Asn339Asp)
|
|
|
|
NM_001077350.3(NPRL3):c.1024G>A (p.Val342Ile)
|
rs11558704
|
|
|
NM_001077350.3(NPRL3):c.1024G>C (p.Val342Leu)
|
|
|
|
NM_001077350.3(NPRL3):c.1025dup (p.Cys343fs)
|
rs1898837245
|
|
|
NM_001077350.3(NPRL3):c.1031+2_1031+3del
|
rs2141909104
|
|
|
NM_001077350.3(NPRL3):c.1031+5G>A
|
|
|
|
NM_001077350.3(NPRL3):c.1031+7G>A
|
|
|
|
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.1032G>T (p.Leu344=)
|
|
|
|
NM_001077350.3(NPRL3):c.1034del (p.Tyr345fs)
|
|
|
|
NM_001077350.3(NPRL3):c.1040C>T (p.Pro347Leu)
|
|
|
|
NM_001077350.3(NPRL3):c.1045G>T (p.Ala349Ser)
|
rs1388346755
|
|
|
NM_001077350.3(NPRL3):c.1053G>C (p.Gln351His)
|
rs2141907979
|
|
|
NM_001077350.3(NPRL3):c.1062C>A (p.His354Gln)
|
rs1898813434
|
|
|
NM_001077350.3(NPRL3):c.1068C>G (p.Phe356Leu)
|
rs1229321872
|
|
|
NM_001077350.3(NPRL3):c.1070del (p.Pro357fs)
|
rs886037962
|
|
|
NM_001077350.3(NPRL3):c.1078del (p.Asp360fs)
|
|
|
|
NM_001077350.3(NPRL3):c.107C>T (p.Ala36Val)
|
|
|
|
NM_001077350.3(NPRL3):c.1092T>C (p.Val364=)
|
|
|
|
NM_001077350.3(NPRL3):c.1092T>G (p.Val364=)
|
|
|
|
NM_001077350.3(NPRL3):c.1093del (p.Ala366fs)
|
|
|
|
NM_001077350.3(NPRL3):c.1104C>T (p.Phe368=)
|
rs2141907858
|
|
|
NM_001077350.3(NPRL3):c.1106C>G (p.Ser369Cys)
|
rs1050077507
|
|
|
NM_001077350.3(NPRL3):c.1111_1122dup (p.Pro371_Leu374dup)
|
rs780621579
|
|
|
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.1120T>C (p.Leu374=)
|
|
|
|
NM_001077350.3(NPRL3):c.1121T>C (p.Leu374Ser)
|
|
|
|
NM_001077350.3(NPRL3):c.1140C>T (p.Pro380=)
|
|
|
|
NM_001077350.3(NPRL3):c.1143G>C (p.Leu381=)
|
rs1898808230
|
|
|
NM_001077350.3(NPRL3):c.1148C>G (p.Pro383Arg)
|
rs1898807635
|
|
|
NM_001077350.3(NPRL3):c.1149C>G (p.Pro383=)
|
rs577949063
|
|
|
NM_001077350.3(NPRL3):c.1153G>A (p.Val385Met)
|
rs1898807118
|
|
|
NM_001077350.3(NPRL3):c.1156C>G (p.Gln386Glu)
|
|
|
|
NM_001077350.3(NPRL3):c.1156C>T (p.Gln386Ter)
|
rs1371859768
|
|
|
NM_001077350.3(NPRL3):c.1159del (p.Glu387fs)
|
|
|
|
NM_001077350.3(NPRL3):c.1161+10A>C
|
rs2141907621
|
|
|
NM_001077350.3(NPRL3):c.1161+15C>A
|
|
|
|
NM_001077350.3(NPRL3):c.1161+1G>A
|
|
|
|
NM_001077350.3(NPRL3):c.1161+20G>A
|
|
|
|
NM_001077350.3(NPRL3):c.1161+5G>A
|
|
|
|
NM_001077350.3(NPRL3):c.1161+6T>C
|
|
|
|
NM_001077350.3(NPRL3):c.1162-13C>T
|
|
|
|
NM_001077350.3(NPRL3):c.1162-18A>C
|
|
|
|
NM_001077350.3(NPRL3):c.1162-4G>C
|
rs539175375
|
|
|
NM_001077350.3(NPRL3):c.1163C>T (p.Thr388Ile)
|
rs758123622
|
|
|
NM_001077350.3(NPRL3):c.116C>A (p.Thr39Lys)
|
|
|
|
NM_001077350.3(NPRL3):c.1174C>T (p.Gln392Ter)
|
rs2141902592
|
|
|
NM_001077350.3(NPRL3):c.1178dup (p.Met393fs)
|
rs2141902589
|
|
|
NM_001077350.3(NPRL3):c.118+11G>T
|
|
|
|
NM_001077350.3(NPRL3):c.118+16G>T
|
|
|
|
NM_001077350.3(NPRL3):c.118+18G>C
|
|
|
|
NM_001077350.3(NPRL3):c.118+18_118+40del
|
|
|
|
NM_001077350.3(NPRL3):c.118+19G>C
|
|
|
|
NM_001077350.3(NPRL3):c.118+1G>A
|
|
|
|
NM_001077350.3(NPRL3):c.118+3_118+6del
|
rs1312109237
|
|
|
NM_001077350.3(NPRL3):c.118+6T>C
|
|
|
|
NM_001077350.3(NPRL3):c.1180GTG[1] (p.Val395del)
|
rs992225807
|
|
|
NM_001077350.3(NPRL3):c.1184_1188del (p.Val395fs)
|
|
|
|
NM_001077350.3(NPRL3):c.119-12G>A
|
rs554836466
|
|
|
NM_001077350.3(NPRL3):c.119-1G>C
|
rs2141981312
|
|
|
NM_001077350.3(NPRL3):c.119-20C>T
|
|
|
|
NM_001077350.3(NPRL3):c.119-2A>G
|
rs1361784389
|
|
|
NM_001077350.3(NPRL3):c.119-3C>G
|
rs1900744785
|
|
|
NM_001077350.3(NPRL3):c.119-5C>T
|
rs1596539888
|
|
|
NM_001077350.3(NPRL3):c.1191G>A (p.Met397Ile)
|
|
|
|
NM_001077350.3(NPRL3):c.1198C>A (p.Arg400Ser)
|
rs556683821
|
|
|
NM_001077350.3(NPRL3):c.119G>A (p.Ser40Asn)
|
|
|
|
NM_001077350.3(NPRL3):c.119G>C (p.Ser40Thr)
|
rs1277893899
|
|
|
NM_001077350.3(NPRL3):c.11A>C (p.Asn4Thr)
|
|
|
|
NM_001077350.3(NPRL3):c.11A>G (p.Asn4Ser)
|
rs759212295
|
|
|
NM_001077350.3(NPRL3):c.1205T>C (p.Leu402Pro)
|
|
|
|
NM_001077350.3(NPRL3):c.1206T>C (p.Leu402=)
|
|
|
|
NM_001077350.3(NPRL3):c.1208T>C (p.Leu403Pro)
|
rs2141902503
|
|
|
NM_001077350.3(NPRL3):c.1211T>G (p.Ile404Ser)
|
|
|
|
NM_001077350.3(NPRL3):c.1211_1245del (p.Ile404fs)
|
rs1898686157
|
|
|
NM_001077350.3(NPRL3):c.1213C>T (p.Gln405Ter)
|
rs1898688345
|
|
|
NM_001077350.3(NPRL3):c.1217_1351+24delinsC
|
rs2141901872
|
|
|
NM_001077350.3(NPRL3):c.121A>G (p.Lys41Glu)
|
rs1299719512
|
|
|
NM_001077350.3(NPRL3):c.1221C>T (p.His407=)
|
|
|
|
NM_001077350.3(NPRL3):c.1223C>T (p.Thr408Ile)
|
rs762208602
|
|
|
NM_001077350.3(NPRL3):c.1230_1231del (p.Cys411fs)
|
rs1898687282
|
|
|
NM_001077350.3(NPRL3):c.1234C>T (p.Leu412=)
|
|
|
|
NM_001077350.3(NPRL3):c.1237A>G (p.Met413Val)
|
rs749424318
|
|
|
NM_001077350.3(NPRL3):c.1239G>A (p.Met413Ile)
|
rs1057524503
|
|
|
NM_001077350.3(NPRL3):c.1247C>G (p.Pro416Arg)
|
rs746082270
|
|
|
NM_001077350.3(NPRL3):c.1252GAG[2] (p.Glu420del)
|
rs765072700
|
|
|
NM_001077350.3(NPRL3):c.1255G>T (p.Glu419Ter)
|
|
|
|
NM_001077350.3(NPRL3):c.1258G>C (p.Glu420Gln)
|
|
|
|
NM_001077350.3(NPRL3):c.1261_1281dup (p.Pro421_Asp427dup)
|
rs2141902200
|
|
|
NM_001077350.3(NPRL3):c.1268C>A (p.Pro423Gln)
|
rs200792895
|
|
|
NM_001077350.3(NPRL3):c.126G>T (p.Pro42=)
|
rs370587053
|
|
|
NM_001077350.3(NPRL3):c.1270C>A (p.Arg424=)
|
|
|
|
NM_001077350.3(NPRL3):c.1270dup (p.Arg424fs)
|
rs1567129567
|
|
|
NM_001077350.3(NPRL3):c.1271G>A (p.Arg424Gln)
|
|
|
|
NM_001077350.3(NPRL3):c.1278C>G (p.Asp426Glu)
|
rs74712570
|
|
|
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.1287del (p.Phe430fs)
|
rs1288771812
|
|
|
NM_001077350.3(NPRL3):c.128G>A (p.Arg43His)
|
rs376476299
|
|
|
NM_001077350.3(NPRL3):c.128G>C (p.Arg43Pro)
|
rs376476299
|
|
|
NM_001077350.3(NPRL3):c.128G>T (p.Arg43Leu)
|
rs376476299
|
|
|
NM_001077350.3(NPRL3):c.1291A>T (p.Thr431Ser)
|
rs2141902154
|
|
|
NM_001077350.3(NPRL3):c.1298G>C (p.Arg433Pro)
|
rs781225056
|
|
|
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.1302C>G (p.Val434=)
|
|
|
|
NM_001077350.3(NPRL3):c.1307G>T (p.Gly436Val)
|
rs767317111
|
|
|
NM_001077350.3(NPRL3):c.1310G>A (p.Arg437His)
|
|
|
|
NM_001077350.3(NPRL3):c.1314C>A (p.Ser438Arg)
|
rs1336372042
|
|
|
NM_001077350.3(NPRL3):c.1315C>A (p.Leu439Ile)
|
|
|
|
NM_001077350.3(NPRL3):c.1317C>T (p.Leu439=)
|
rs1374917107
|
|
|
NM_001077350.3(NPRL3):c.1322C>T (p.Thr441Met)
|
rs776673140
|
|
|
NM_001077350.3(NPRL3):c.1332_1333dup (p.Leu445fs)
|
rs1898675878
|
|
|
NM_001077350.3(NPRL3):c.1334T>C (p.Leu445Pro)
|
|
|
|
NM_001077350.3(NPRL3):c.1347C>A (p.Ser449=)
|
rs1272247635
|
|
|
NM_001077350.3(NPRL3):c.1347C>T (p.Ser449=)
|
|
|
|
NM_001077350.3(NPRL3):c.1351+11C>T
|
|
|
|
NM_001077350.3(NPRL3):c.1351+11dup
|
|
|
|
NM_001077350.3(NPRL3):c.1351+16C>T
|
|
|
|
NM_001077350.3(NPRL3):c.1351+19C>G
|
|
|
|
NM_001077350.3(NPRL3):c.1351+3A>G
|
|
|
|
NM_001077350.3(NPRL3):c.1351+9C>T
|
|
|
|
NM_001077350.3(NPRL3):c.1352-10T>A
|
|
|
|
NM_001077350.3(NPRL3):c.1352-10_1368del
|
|
|
|
NM_001077350.3(NPRL3):c.1352-17A>G
|
|
|
|
NM_001077350.3(NPRL3):c.1352-4_1352-1delinsTGACCCATCC
|
rs886037959
|
|
|
NM_001077350.3(NPRL3):c.1352-5C>A
|
rs745831986
|
|
|
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.1359C>T (p.Ser453=)
|
rs756373989
|
|
|
NM_001077350.3(NPRL3):c.1360G>A (p.Asp454Asn)
|
|
|
|
NM_001077350.3(NPRL3):c.1362T>C (p.Asp454=)
|
rs1218207644
|
|
|
NM_001077350.3(NPRL3):c.1368G>A (p.Met456Ile)
|
|
|
|
NM_001077350.3(NPRL3):c.1368G>T (p.Met456Ile)
|
|
|
|
NM_001077350.3(NPRL3):c.136T>C (p.Tyr46His)
|
|
|
|
NM_001077350.3(NPRL3):c.1372del (p.Leu458fs)
|
rs1898627430
|
|
|
NM_001077350.3(NPRL3):c.1374C>T (p.Leu458=)
|
|
|
|
NM_001077350.3(NPRL3):c.1375_1376dup (p.Ser460fs)
|
rs886037960
|
|
|
NM_001077350.3(NPRL3):c.138C>G (p.Tyr46Ter)
|
rs1021001959
|
|
|
NM_001077350.3(NPRL3):c.1392C>A (p.Asp464Glu)
|
|
|
|
NM_001077350.3(NPRL3):c.139G>T (p.Ala47Ser)
|
rs1401901852
|
|
|
NM_001077350.3(NPRL3):c.1404A>G (p.Ala468=)
|
rs2141900060
|
|
|
NM_001077350.3(NPRL3):c.1408C>T (p.Leu470=)
|
|
|
|
NM_001077350.3(NPRL3):c.1421G>C (p.Gly474Ala)
|
|
|
|
NM_001077350.3(NPRL3):c.1427del (p.Ser476fs)
|
|
|
|
NM_001077350.3(NPRL3):c.1430C>T (p.Pro477Leu)
|
rs2141899988
|
|
|
NM_001077350.3(NPRL3):c.1433T>G (p.Leu478Arg)
|
rs774394208
|
|
|
NM_001077350.3(NPRL3):c.1437C>G (p.Asn479Lys)
|
rs2141899969
|
|
|
NM_001077350.3(NPRL3):c.1455C>A (p.Asn485Lys)
|
|
|
|
NM_001077350.3(NPRL3):c.1461G>A (p.Leu487=)
|
rs747844612
|
|
|
NM_001077350.3(NPRL3):c.1466_1467= (p.Ser489=)
|
|
|
|
NM_001077350.3(NPRL3):c.1466_1467insT (p.Leu490fs)
|
|
|
|
NM_001077350.3(NPRL3):c.1468dup (p.Leu490fs)
|
rs57321480
|
|
|
NM_001077350.3(NPRL3):c.1470G>A (p.Leu490=)
|
rs1172480661
|
|
|
NM_001077350.3(NPRL3):c.1473G>A (p.Ser491=)
|
|
|
|
NM_001077350.3(NPRL3):c.1480G>T (p.Glu494Ter)
|
rs2141899833
|
|
|
NM_001077350.3(NPRL3):c.1492A>G (p.Ile498Val)
|
rs1898614224
|
|
|
NM_001077350.3(NPRL3):c.1492_1512del (p.Ile498_Ala504del)
|
rs2141899739
|
|
|
NM_001077350.3(NPRL3):c.14C>A (p.Thr5Asn)
|
rs776554504
|
|
|
NM_001077350.3(NPRL3):c.1505C>T (p.Pro502Leu)
|
|
|
|
NM_001077350.3(NPRL3):c.1510G>T (p.Ala504Ser)
|
|
|
|
NM_001077350.3(NPRL3):c.1514_1518delinsTTCTGGGGCT (p.Gln505fs)
|
rs1555439541
|
|
|
NM_001077350.3(NPRL3):c.1528C>A (p.Leu510Ile)
|
rs2141899710
|
|
|
NM_001077350.3(NPRL3):c.1533C>A (p.Arg511=)
|
rs2141899690
|
|
|
NM_001077350.3(NPRL3):c.1542C>A (p.Ala514=)
|
|
|
|
NM_001077350.3(NPRL3):c.1544+1del
|
rs1898611246
|
|
|
NM_001077350.3(NPRL3):c.1544+3_1544+5del
|
rs1898611086
|
|
|
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.1545G>A (p.Arg515=)
|
rs2141895127
|
|
|
NM_001077350.3(NPRL3):c.1548C>A (p.Leu516=)
|
rs558200249
|
|
|
NM_001077350.3(NPRL3):c.1548C>T (p.Leu516=)
|
|
|
|
NM_001077350.3(NPRL3):c.1557C>G (p.Tyr519Ter)
|
rs2141895094
|
|
|
NM_001077350.3(NPRL3):c.1558T>C (p.Phe520Leu)
|
|
|
|
NM_001077350.3(NPRL3):c.1559dup (p.Arg521fs)
|
rs2141895084
|
|
|
NM_001077350.3(NPRL3):c.1561del (p.Arg521fs)
|
rs1596492194
|
|
|
NM_001077350.3(NPRL3):c.1563C>A (p.Arg521=)
|
|
|
|
NM_001077350.3(NPRL3):c.1565del (p.Gly522fs)
|
|
|
|
NM_001077350.3(NPRL3):c.1567C>A (p.Arg523Ser)
|
rs189283988
|
|
|
NM_001077350.3(NPRL3):c.1567del (p.Arg523fs)
|
|
|
|
NM_001077350.3(NPRL3):c.1574A>T (p.His525Leu)
|
rs1898496064
|
|
|
NM_001077350.3(NPRL3):c.1576C>T (p.Leu526=)
|
|
|
|
NM_001077350.3(NPRL3):c.1579GAG[1] (p.Glu528del)
|
rs2141894975
|
|
|
NM_001077350.3(NPRL3):c.1583A>G (p.Glu528Gly)
|
|
|
|
NM_001077350.3(NPRL3):c.1586T>G (p.Ile529Ser)
|
|
|
|
NM_001077350.3(NPRL3):c.1589T>C (p.Met530Thr)
|
rs1453118437
|
|
|
NM_001077350.3(NPRL3):c.1590G>C (p.Met530Ile)
|
rs2141894953
|
|
|
NM_001077350.3(NPRL3):c.1597G>A (p.Glu533Lys)
|
|
|
|
NM_001077350.3(NPRL3):c.1597G>C (p.Glu533Gln)
|
|
|
|
NM_001077350.3(NPRL3):c.15del (p.Ser6fs)
|
rs2141995568
|
|
|
NM_001077350.3(NPRL3):c.1604C>T (p.Thr535Met)
|
|
|
|
NM_001077350.3(NPRL3):c.1609C>T (p.Arg537Cys)
|
|
|
|
NM_001077350.3(NPRL3):c.1609_1610delinsTC (p.Arg537Ser)
|
|
|
|
NM_001077350.3(NPRL3):c.1610G>A (p.Arg537His)
|
rs771288626
|
|
|
NM_001077350.3(NPRL3):c.1618_1629del (p.Leu540_Leu543del)
|
rs2141894817
|
|
|
NM_001077350.3(NPRL3):c.161A>G (p.His54Arg)
|
rs1900741473
|
|
|
NM_001077350.3(NPRL3):c.1628T>C (p.Leu543Pro)
|
rs2141894824
|
|
|
NM_001077350.3(NPRL3):c.1642C>T (p.Arg548Cys)
|
|
|
|
NM_001077350.3(NPRL3):c.1643G>T (p.Arg548Leu)
|
|
|
|
NM_001077350.3(NPRL3):c.1645A>G (p.Ser549Gly)
|
rs537555038
|
|
|
NM_001077350.3(NPRL3):c.1647C>A (p.Ser549Arg)
|
rs1191944943
|
|
|
NM_001077350.3(NPRL3):c.1647C>G (p.Ser549Arg)
|
|
|
|
NM_001077350.3(NPRL3):c.1648G>A (p.Val550Met)
|
rs188724206
|
|
|
NM_001077350.3(NPRL3):c.1648G>C (p.Val550Leu)
|
rs188724206
|
|
|
NM_001077350.3(NPRL3):c.1648G>T (p.Val550Leu)
|
rs188724206
|
|
|
NM_001077350.3(NPRL3):c.1654del (p.Val552fs)
|
|
|
|
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.1666del (p.His556fs)
|
rs2141894715
|
|
|
NM_001077350.3(NPRL3):c.1667A>C (p.His556Pro)
|
rs1898489910
|
|
|
NM_001077350.3(NPRL3):c.1673A>G (p.Asp558Gly)
|
|
|
|
NM_001077350.3(NPRL3):c.1682T>C (p.Ile561Thr)
|
rs1898488842
|
|
|
NM_001077350.3(NPRL3):c.1686C>T (p.Ala562=)
|
|
|
|
NM_001077350.3(NPRL3):c.1699C>G (p.Leu567Val)
|
|
|
|
NM_001077350.3(NPRL3):c.169G>A (p.Glu57Lys)
|
rs907712162
|
|
|
NM_001077350.3(NPRL3):c.169G>T (p.Glu57Ter)
|
|
|
|
NM_001077350.3(NPRL3):c.1701G>C (p.Leu567=)
|
|
|
|
NM_001077350.3(NPRL3):c.1708T>C (p.Ter570Arg)
|
|
|
|
NM_001077350.3(NPRL3):c.173A>C (p.Gln58Pro)
|
|
|
|
NM_001077350.3(NPRL3):c.177C>A (p.Asp59Glu)
|
rs1048069050
|
|
|
NM_001077350.3(NPRL3):c.178G>A (p.Gly60Ser)
|
|
|
|
NM_001077350.3(NPRL3):c.188+10C>T
|
|
|
|
NM_001077350.3(NPRL3):c.188+13C>A
|
|
|
|
NM_001077350.3(NPRL3):c.188+5A>C
|
|
|
|
NM_001077350.3(NPRL3):c.188+5A>G
|
|
|
|
NM_001077350.3(NPRL3):c.189-1G>A
|
rs1900184374
|
|
|
NM_001077350.3(NPRL3):c.189-3A>G
|
rs1900184532
|
|
|
NM_001077350.3(NPRL3):c.189G>A (p.Arg63=)
|
|
|
|
NM_001077350.3(NPRL3):c.19C>A (p.Pro7Thr)
|
rs1901212556
|
|
|
NM_001077350.3(NPRL3):c.224C>T (p.Thr75Ile)
|
|
|
|
NM_001077350.3(NPRL3):c.227A>C (p.Lys76Thr)
|
rs1900182442
|
|
|
NM_001077350.3(NPRL3):c.236T>C (p.Met79Thr)
|
|
|
|
NM_001077350.3(NPRL3):c.242G>A (p.Gly81Asp)
|
|
|
|
NM_001077350.3(NPRL3):c.244C>T (p.Gln82Ter)
|
rs1900181500
|
|
|
NM_001077350.3(NPRL3):c.258G>A (p.Leu86=)
|
rs2141960692
|
|
|
NM_001077350.3(NPRL3):c.258del (p.Lys87fs)
|
rs2141960699
|
|
|
NM_001077350.3(NPRL3):c.25A>G (p.Ser9Gly)
|
rs760236969
|
|
|
NM_001077350.3(NPRL3):c.269A>G (p.Asn90Ser)
|
|
|
|
NM_001077350.3(NPRL3):c.269del (p.Asn90fs)
|
|
|
|
NM_001077350.3(NPRL3):c.274C>T (p.Arg92Ter)
|
rs1199226176
|
|
|
NM_001077350.3(NPRL3):c.280del (p.Val94fs)
|
rs2141960644
|
|
|
NM_001077350.3(NPRL3):c.283G>C (p.Gly95Arg)
|
|
|
|
NM_001077350.3(NPRL3):c.289C>G (p.Pro97Ala)
|
|
|
|
NM_001077350.3(NPRL3):c.292A>G (p.Thr98Ala)
|
rs1900178756
|
|
|
NM_001077350.3(NPRL3):c.293C>T (p.Thr98Ile)
|
rs1596528750
|
|
|
NM_001077350.3(NPRL3):c.294A>G (p.Thr98=)
|
|
|
|
NM_001077350.3(NPRL3):c.294A>T (p.Thr98=)
|
rs370196395
|
|
|
NM_001077350.3(NPRL3):c.298C>G (p.Leu100Val)
|
rs1900178162
|
|
|
NM_001077350.3(NPRL3):c.301C>T (p.Gln101Ter)
|
rs1596528731
|
|
|
NM_001077350.3(NPRL3):c.310C>A (p.Leu104Met)
|
rs1900177602
|
|
|
NM_001077350.3(NPRL3):c.316C>T (p.Gln106Ter)
|
rs1215657187
|
|
|
NM_001077350.3(NPRL3):c.318+11C>A
|
|
|
|
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.318+1G>A
|
rs2141960559
|
|
|
NM_001077350.3(NPRL3):c.318+3A>G
|
rs746765533
|
|
|
NM_001077350.3(NPRL3):c.319-10T>A
|
rs1900090284
|
|
|
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.319-1G>A
|
|
|
|
NM_001077350.3(NPRL3):c.341del (p.Pro114fs)
|
rs1596526976
|
|
|
NM_001077350.3(NPRL3):c.346A>C (p.Arg116=)
|
|
|
|
NM_001077350.3(NPRL3):c.349del (p.Glu117fs)
|
rs1900088045
|
|
|
NM_001077350.3(NPRL3):c.369T>G (p.Leu123=)
|
rs2141957568
|
|
|
NM_001077350.3(NPRL3):c.377T>C (p.Val126Ala)
|
rs1024335545
|
|
|
NM_001077350.3(NPRL3):c.377T>G (p.Val126Gly)
|
rs1024335545
|
|
|
NM_001077350.3(NPRL3):c.377del (p.Val126fs)
|
rs1596526915
|
|
|
NM_001077350.3(NPRL3):c.393+13A>G
|
rs767844249
|
|
|
NM_001077350.3(NPRL3):c.393+3G>C
|
rs1567141885
|
|
|
NM_001077350.3(NPRL3):c.393+4_393+7del
|
rs757371554
|
|
|
NM_001077350.3(NPRL3):c.393+5G>A
|
|
|
|
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.394-16_394-15delinsTT
|
|
|
|
NM_001077350.3(NPRL3):c.394-1747del
|
rs2141952986
|
|
|
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.394G>A (p.Ala132Thr)
|
rs1899875190
|
|
|
NM_001077350.3(NPRL3):c.396C>T (p.Ala132=)
|
rs1289225879
|
|
|
NM_001077350.3(NPRL3):c.400G>T (p.Ala134Ser)
|
|
|
|
NM_001077350.3(NPRL3):c.406C>T (p.Pro136Ser)
|
|
|
|
NM_001077350.3(NPRL3):c.407C>A (p.Pro136Gln)
|
rs547462000
|
|
|
NM_001077350.3(NPRL3):c.419dup (p.Asn140fs)
|
rs2141950334
|
|
|
NM_001077350.3(NPRL3):c.420C>T (p.Asn140=)
|
rs1330216548
|
|
|
NM_001077350.3(NPRL3):c.423_426del (p.Leu142fs)
|
rs1567139896
|
|
|
NM_001077350.3(NPRL3):c.427C>T (p.His143Tyr)
|
rs764927474
|
|
|
NM_001077350.3(NPRL3):c.434T>C (p.Leu145Pro)
|
rs1899872500
|
|
|
NM_001077350.3(NPRL3):c.434_453del (p.Leu145fs)
|
|
|
|
NM_001077350.3(NPRL3):c.439C>G (p.Arg147Gly)
|
|
|
|
NM_001077350.3(NPRL3):c.440G>A (p.Arg147His)
|
rs1470285968
|
|
|
NM_001077350.3(NPRL3):c.44del (p.Ser15fs)
|
rs1901211202
|
|
|
NM_001077350.3(NPRL3):c.451A>G (p.Thr151Ala)
|
rs1899870989
|
|
|
NM_001077350.3(NPRL3):c.453C>T (p.Thr151=)
|
|
|
|
NM_001077350.3(NPRL3):c.458T>G (p.Leu153Arg)
|
|
|
|
NM_001077350.3(NPRL3):c.460C>T (p.Gln154Ter)
|
rs2141950212
|
|
|
NM_001077350.3(NPRL3):c.465C>G (p.His155Gln)
|
rs774187145
|
|
|
NM_001077350.3(NPRL3):c.465C>T (p.His155=)
|
rs774187145
|
|
|
NM_001077350.3(NPRL3):c.469G>T (p.Glu157Ter)
|
rs1596522356
|
|
|
NM_001077350.3(NPRL3):c.472C>A (p.Arg158Ser)
|
|
|
|
NM_001077350.3(NPRL3):c.472C>T (p.Arg158Cys)
|
|
|
|
NM_001077350.3(NPRL3):c.481C>T (p.Gln161Ter)
|
rs1899868619
|
|
|
NM_001077350.3(NPRL3):c.488_490dup (p.Leu163_Thr164insIle)
|
|
|
|
NM_001077350.3(NPRL3):c.491C>G (p.Thr164Ser)
|
|
|
|
NM_001077350.3(NPRL3):c.494G>A (p.Arg165Gln)
|
|
|
|
NM_001077350.3(NPRL3):c.496G>T (p.Glu166Ter)
|
rs1596522300
|
|
|
NM_001077350.3(NPRL3):c.500C>T (p.Ala167Val)
|
|
|
|
NM_001077350.3(NPRL3):c.516G>A (p.Ala172=)
|
rs758642036
|
|
|
NM_001077350.3(NPRL3):c.518dup (p.Gln174fs)
|
rs2141950064
|
|
|
NM_001077350.3(NPRL3):c.51C>T (p.Ser17=)
|
|
|
|
NM_001077350.3(NPRL3):c.526G>T (p.Glu176Ter)
|
|
|
|
NM_001077350.3(NPRL3):c.529G>T (p.Val177Leu)
|
|
|
|
NM_001077350.3(NPRL3):c.531G>A (p.Val177=)
|
rs1899866156
|
|
|
NM_001077350.3(NPRL3):c.542C>T (p.Ala181Val)
|
rs1452724103
|
|
|
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.547+1G>A
|
rs1899864955
|
|
|
NM_001077350.3(NPRL3):c.547+1G>C
|
rs1899864955
|
|
|
NM_001077350.3(NPRL3):c.547+20A>T
|
|
|
|
NM_001077350.3(NPRL3):c.547+2T>A
|
|
|
|
NM_001077350.3(NPRL3):c.548-3T>C
|
|
|
|
NM_001077350.3(NPRL3):c.548-5T>C
|
|
|
|
NM_001077350.3(NPRL3):c.548-7C>T
|
|
|
|
NM_001077350.3(NPRL3):c.552T>C (p.Asn184=)
|
rs2141946239
|
|
|
NM_001077350.3(NPRL3):c.553G>C (p.Glu185Gln)
|
|
|
|
NM_001077350.3(NPRL3):c.556G>C (p.Gly186Arg)
|
rs2141946228
|
|
|
NM_001077350.3(NPRL3):c.559C>T (p.Pro187Ser)
|
rs1899761608
|
|
|
NM_001077350.3(NPRL3):c.562C>T (p.Gln188Ter)
|
|
|
|
NM_001077350.3(NPRL3):c.563dup (p.Ser189fs)
|
|
|
|
NM_001077350.3(NPRL3):c.566C>A (p.Ser189Tyr)
|
|
|
|
NM_001077350.3(NPRL3):c.568C>T (p.Pro190Ser)
|
|
|
|
NM_001077350.3(NPRL3):c.569C>T (p.Pro190Leu)
|
|
|
|
NM_001077350.3(NPRL3):c.577C>T (p.His193Tyr)
|
rs1367511037
|
|
|
NM_001077350.3(NPRL3):c.591G>A (p.Lys197=)
|
rs776506827
|
|
|
NM_001077350.3(NPRL3):c.591_629+634del
|
rs1899713412
|
|
|
NM_001077350.3(NPRL3):c.593G>T (p.Cys198Phe)
|
|
|
|
NM_001077350.3(NPRL3):c.608A>C (p.Asp203Ala)
|
rs1899757551
|
|
|
NM_001077350.3(NPRL3):c.610C>T (p.Leu204Phe)
|
|
|
|
NM_001077350.3(NPRL3):c.614A>T (p.Lys205Met)
|
|
|
|
NM_001077350.3(NPRL3):c.622del (p.Tyr208fs)
|
rs2141946070
|
|
|
NM_001077350.3(NPRL3):c.629+1G>A
|
rs2141946055
|
|
|
NM_001077350.3(NPRL3):c.629+1G>T
|
rs2141946055
|
|
|
NM_001077350.3(NPRL3):c.629+3A>G
|
|
|
|
NM_001077350.3(NPRL3):c.629+4A>G
|
rs1220187651
|
|
|
NM_001077350.3(NPRL3):c.629+5G>A
|
rs2141946040
|
|
|
NM_001077350.3(NPRL3):c.629+8A>G
|
|
|
|
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.630-1G>A
|
rs1899235603
|
|
|
NM_001077350.3(NPRL3):c.630-21_630-20dup
|
|
|
|
NM_001077350.3(NPRL3):c.630-3C>G
|
rs2141925516
|
|
|
NM_001077350.3(NPRL3):c.630-7T>C
|
rs2141925531
|
|
|
NM_001077350.3(NPRL3):c.644del (p.Gly215fs)
|
rs1899234101
|
|
|
NM_001077350.3(NPRL3):c.64C>G (p.Leu22Val)
|
|
|
|
NM_001077350.3(NPRL3):c.653G>C (p.Arg218Pro)
|
rs201341279
|
|
|
NM_001077350.3(NPRL3):c.666C>T (p.Asn222=)
|
|
|
|
NM_001077350.3(NPRL3):c.667A>G (p.Ser223Gly)
|
|
|
|
NM_001077350.3(NPRL3):c.667_670del (p.Ser223fs)
|
|
|
|
NM_001077350.3(NPRL3):c.685T>C (p.Phe229Leu)
|
rs1899232122
|
|
|
NM_001077350.3(NPRL3):c.686_688del (p.Phe229del)
|
|
|
|
NM_001077350.3(NPRL3):c.687C>T (p.Phe229=)
|
rs1596508663
|
|
|
NM_001077350.3(NPRL3):c.691_717del (p.Leu231_Ala239del)
|
rs1300716374
|
|
|
NM_001077350.3(NPRL3):c.696C>G (p.Pro232=)
|
|
|
|
NM_001077350.3(NPRL3):c.69G>C (p.Leu23=)
|
|
|
|
NM_001077350.3(NPRL3):c.700A>G (p.Lys234Glu)
|
rs1899230843
|
|
|
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.726dup (p.Ile243fs)
|
rs2141925225
|
|
|
NM_001077350.3(NPRL3):c.730C>T (p.Pro244Ser)
|
rs1225559784
|
|
|
NM_001077350.3(NPRL3):c.732C>A (p.Pro244=)
|
rs1196165192
|
|
|
NM_001077350.3(NPRL3):c.736_737insTTTC (p.Glu246fs)
|
|
|
|
NM_001077350.3(NPRL3):c.737A>G (p.Glu246Gly)
|
|
|
|
NM_001077350.3(NPRL3):c.73A>G (p.Arg25Gly)
|
|
|
|
NM_001077350.3(NPRL3):c.744C>A (p.Ile248=)
|
rs375592476
|
|
|
NM_001077350.3(NPRL3):c.744C>G (p.Ile248Met)
|
rs375592476
|
|
|
NM_001077350.3(NPRL3):c.744C>T (p.Ile248=)
|
rs375592476
|
|
|
NM_001077350.3(NPRL3):c.745G>T (p.Glu249Ter)
|
rs200041907
|
|
|
NM_001077350.3(NPRL3):c.747A>T (p.Glu249Asp)
|
rs2141925147
|
|
|
NM_001077350.3(NPRL3):c.748C>A (p.Arg250=)
|
|
|
|
NM_001077350.3(NPRL3):c.749G>A (p.Arg250Gln)
|
rs947759739
|
|
|
NM_001077350.3(NPRL3):c.74G>C (p.Arg25Thr)
|
rs1901209994
|
|
|
NM_001077350.3(NPRL3):c.74G>T (p.Arg25Met)
|
rs1901209994
|
|
|
NM_001077350.3(NPRL3):c.750G>A (p.Arg250=)
|
|
|
|
NM_001077350.3(NPRL3):c.760G>A (p.Ala254Thr)
|
|
|
|
NM_001077350.3(NPRL3):c.761C>T (p.Ala254Val)
|
rs1899225654
|
|
|
NM_001077350.3(NPRL3):c.763_766dup (p.Arg256fs)
|
|
|
|
NM_001077350.3(NPRL3):c.765C>T (p.Ile255=)
|
|
|
|
NM_001077350.3(NPRL3):c.766C>T (p.Arg256Cys)
|
rs779688768
|
|
|
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.767+1G>T
|
rs1567134495
|
|
|
NM_001077350.3(NPRL3):c.767+1del
|
rs2141925052
|
|
|
NM_001077350.3(NPRL3):c.768-10T>G
|
rs566886246
|
|
|
NM_001077350.3(NPRL3):c.768-1G>A
|
|
|
|
NM_001077350.3(NPRL3):c.768-2del
|
rs1899110688
|
|
|
NM_001077350.3(NPRL3):c.768-6T>C
|
|
|
|
NM_001077350.3(NPRL3):c.772T>G (p.Tyr258Asp)
|
|
|
|
NM_001077350.3(NPRL3):c.775C>T (p.His259Tyr)
|
|
|
|
NM_001077350.3(NPRL3):c.776A>G (p.His259Arg)
|
rs1899109777
|
|
|
NM_001077350.3(NPRL3):c.781del (p.Leu261fs)
|
|
|
|
NM_001077350.3(NPRL3):c.782T>C (p.Leu261Pro)
|
rs1899109340
|
|
|
NM_001077350.3(NPRL3):c.789G>A (p.Leu263=)
|
rs1269886749
|
|
|
NM_001077350.3(NPRL3):c.78C>A (p.Tyr26Ter)
|
rs2141995468
|
|
|
NM_001077350.3(NPRL3):c.795T>G (p.Ser265Arg)
|
|
|
|
NM_001077350.3(NPRL3):c.799G>T (p.Glu267Ter)
|
|
|
|
NM_001077350.3(NPRL3):c.804G>A (p.Lys268=)
|
|
|
|
NM_001077350.3(NPRL3):c.804G>C (p.Lys268Asn)
|
|
|
|
NM_001077350.3(NPRL3):c.807C>A (p.Ser269=)
|
rs1033607990
|
|
|
NM_001077350.3(NPRL3):c.812T>C (p.Leu271Pro)
|
|
|
|
NM_001077350.3(NPRL3):c.821T>C (p.Leu274Pro)
|
|
|
|
NM_001077350.3(NPRL3):c.832T>G (p.Cys278Gly)
|
|
|
|
NM_001077350.3(NPRL3):c.834C>T (p.Cys278=)
|
|
|
|
NM_001077350.3(NPRL3):c.835dup (p.Ser279fs)
|
rs886037958
|
|
|
NM_001077350.3(NPRL3):c.842C>T (p.Ala281Val)
|
|
|
|
NM_001077350.3(NPRL3):c.844C>T (p.Leu282=)
|
rs755359263
|
|
|
NM_001077350.3(NPRL3):c.851G>A (p.Arg284Gln)
|
rs1437185591
|
|
|
NM_001077350.3(NPRL3):c.85C>T (p.Gln29Ter)
|
|
|
|
NM_001077350.3(NPRL3):c.860A>C (p.Lys287Thr)
|
|
|
|
NM_001077350.3(NPRL3):c.863C>T (p.Thr288Ile)
|
|
|
|
NM_001077350.3(NPRL3):c.883C>T (p.Leu295=)
|
rs2141920152
|
|
|
NM_001077350.3(NPRL3):c.891G>A (p.Gln297=)
|
|
|
|
NM_001077350.3(NPRL3):c.898C>T (p.Gln300Ter)
|
rs746975723
|
|
|
NM_001077350.3(NPRL3):c.8ACA[1] (p.Asn4del)
|
rs2141995584
|
|
|
NM_001077350.3(NPRL3):c.914C>T (p.Ala305Val)
|
rs2141920111
|
|
|
NM_001077350.3(NPRL3):c.922C>T (p.Gln308Ter)
|
rs2141920098
|
|
|
NM_001077350.3(NPRL3):c.922_923dup (p.Gln308fs)
|
rs1555441032
|
|
|
NM_001077350.3(NPRL3):c.924+17C>A
|
|
|
|
NM_001077350.3(NPRL3):c.924+3A>G
|
|
|
|
NM_001077350.3(NPRL3):c.924+5A>T
|
rs1899101610
|
|
|
NM_001077350.3(NPRL3):c.924+9C>G
|
|
|
|
NM_001077350.3(NPRL3):c.924G>C (p.Gln308His)
|
rs1596505517
|
|
|
NM_001077350.3(NPRL3):c.925-10T>C
|
|
|
|
NM_001077350.3(NPRL3):c.925-12dup
|
rs776084653
|
|
|
NM_001077350.3(NPRL3):c.925-1G>C
|
rs1898844907
|
|
|
NM_001077350.3(NPRL3):c.925-2A>G
|
rs1431914212
|
|
|
NM_001077350.3(NPRL3):c.925-2A>T
|
rs1431914212
|
|
|
NM_001077350.3(NPRL3):c.925-3C>T
|
rs2141909476
|
|
|
NM_001077350.3(NPRL3):c.925-6C>T
|
|
|
|
NM_001077350.3(NPRL3):c.925-8del
|
rs2141909491
|
|
|
NM_001077350.3(NPRL3):c.925-9T>C
|
|
|
|
NM_001077350.3(NPRL3):c.92G>A (p.Ser31Asn)
|
rs780716774
|
|
|
NM_001077350.3(NPRL3):c.931C>T (p.Gln311Ter)
|
rs1898844513
|
|
|
NM_001077350.3(NPRL3):c.93C>T (p.Ser31=)
|
|
|
|
NM_001077350.3(NPRL3):c.94C>T (p.Gln32Ter)
|
rs1567152003
|
|
|
NM_001077350.3(NPRL3):c.954C>G (p.Tyr318Ter)
|
rs1596500172
|
|
|
NM_001077350.3(NPRL3):c.967ATC[2] (p.Ile325del)
|
rs1287678265
|
|
|
NM_001077350.3(NPRL3):c.975C>A (p.Ile325=)
|
rs2141909339
|
|
|
NM_001077350.3(NPRL3):c.975del (p.Tyr326fs)
|
|
|
|
NM_001077350.3(NPRL3):c.979C>T (p.Pro327Ser)
|
rs2141909329
|
|
|
NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu)
|
rs1898841618
|
|
|
NM_001077350.3(NPRL3):c.991AAC[1] (p.Asn332del)
|
rs1555440242
|
|
|
NM_001077350.3(NPRL3):c.998T>A (p.Val333Asp)
|
|
|
|
NM_001077350.3(NPRL3):c.999C>A (p.Val333=)
|
|
|
|
NM_001077350.3(NPRL3):c.99G>C (p.Glu33Asp)
|
rs2141995418
|
|
|
NM_001077350.3(NPRL3):c.9C>A (p.Asp3Glu)
|
|
|
|
NM_001077350.3(NPRL3):c.9C>G (p.Asp3Glu)
|
rs1478358968
|
|
|
NM_001077350.3:c.(118+1_119-1)_(188+1_189-1)del
|
|
|
|
NM_001077350.3:c.(767+1_768-1)_(924+1_925-1)del
|
|
|
|
NM_001099403.2(PRDM8):c.1002C>G (p.Gly334=)
|
|
|
|
NM_001099403.2(PRDM8):c.1017G>T (p.Arg339=)
|
|
|
|
NM_001099403.2(PRDM8):c.1025C>T (p.Pro342Leu)
|
rs1236884779
|
|
|
NM_001099403.2(PRDM8):c.1042C>A (p.Leu348Met)
|
|
|
|
NM_001099403.2(PRDM8):c.1079G>T (p.Ser360Ile)
|
|
|
|
NM_001099403.2(PRDM8):c.1084T>A (p.Phe362Ile)
|
rs2109879102
|
|
|
NM_001099403.2(PRDM8):c.1084T>C (p.Phe362Leu)
|
|
|
|
NM_001099403.2(PRDM8):c.1104C>T (p.Gly368=)
|
rs1738591619
|
|
|
NM_001099403.2(PRDM8):c.1109T>C (p.Leu370Pro)
|
rs1449739343
|
|
|
NM_001099403.2(PRDM8):c.1142_1204del (p.Ala381_Glu401del)
|
rs2109879206
|
|
|
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.1166T>C (p.Val389Ala)
|
rs1738600010
|
|
|
NM_001099403.2(PRDM8):c.1167G>C (p.Val389=)
|
rs1276443060
|
|
|
NM_001099403.2(PRDM8):c.1167G>T (p.Val389=)
|
|
|
|
NM_001099403.2(PRDM8):c.1168AAG[1] (p.Lys391del)
|
rs904587436
|
|
|
NM_001099403.2(PRDM8):c.1173G>T (p.Lys391Asn)
|
rs1292648964
|
|
|
NM_001099403.2(PRDM8):c.1177G>A (p.Ala393Thr)
|
|
|
|
NM_001099403.2(PRDM8):c.1184C>T (p.Ala395Val)
|
|
|
|
NM_001099403.2(PRDM8):c.1192C>T (p.Leu398=)
|
|
|
|
NM_001099403.2(PRDM8):c.1200G>A (p.Glu400=)
|
rs2109879321
|
|
|
NM_001099403.2(PRDM8):c.1210G>A (p.Ala404Thr)
|
rs1422650743
|
|
|
NM_001099403.2(PRDM8):c.1218C>G (p.Gly406=)
|
rs2109879340
|
|
|
NM_001099403.2(PRDM8):c.121T>G (p.Phe41Val)
|
rs1199491730
|
|
|
NM_001099403.2(PRDM8):c.1224A>G (p.Gly408=)
|
|
|
|
NM_001099403.2(PRDM8):c.1225G>A (p.Val409Ile)
|
rs1483533129
|
|
|
NM_001099403.2(PRDM8):c.1229C>A (p.Ala410Asp)
|
|
|
|
NM_001099403.2(PRDM8):c.1233C>G (p.Ser411=)
|
rs2109879360
|
|
|
NM_001099403.2(PRDM8):c.1245C>A (p.Asp415Glu)
|
rs1014511302
|
|
|
NM_001099403.2(PRDM8):c.1245C>T (p.Asp415=)
|
|
|
|
NM_001099403.2(PRDM8):c.1249GGC[3] (p.Gly420_Gly421del)
|
rs1024186691
|
|
|
NM_001099403.2(PRDM8):c.1249GGC[6] (p.Gly421dup)
|
rs1024186691
|
|
|
NM_001099403.2(PRDM8):c.1249GGC[7] (p.Gly420_Gly421dup)
|
rs1024186691
|
|
|
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.1270A>C (p.Thr424Pro)
|
|
|
|
NM_001099403.2(PRDM8):c.1272G>A (p.Thr424=)
|
rs1167938560
|
|
|
NM_001099403.2(PRDM8):c.1279_1284del (p.Ala427_Ala428del)
|
rs1738619565
|
|
|
NM_001099403.2(PRDM8):c.1284G>A (p.Ala428=)
|
|
|
|
NM_001099403.2(PRDM8):c.1288C>T (p.Pro430Ser)
|
rs979733757
|
|
|
NM_001099403.2(PRDM8):c.1290G>A (p.Pro430=)
|
|
|
|
NM_001099403.2(PRDM8):c.1305G>C (p.Lys435Asn)
|
|
|
|
NM_001099403.2(PRDM8):c.1336C>T (p.Pro446Ser)
|
rs1738630893
|
|
|
NM_001099403.2(PRDM8):c.1338C>T (p.Pro446=)
|
|
|
|
NM_001099403.2(PRDM8):c.1343G>C (p.Arg448Pro)
|
|
|
|
NM_001099403.2(PRDM8):c.1350G>T (p.Glu450Asp)
|
rs1578265647
|
|
|
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.1436G>A (p.Gly479Asp)
|
rs1560479017
|
|
|
NM_001099403.2(PRDM8):c.1437C>A (p.Gly479=)
|
rs904515362
|
|
|
NM_001099403.2(PRDM8):c.1441G>C (p.Gly481Arg)
|
|
|
|
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.1447G>A (p.Ala483Thr)
|
rs544862921
|
|
|
NM_001099403.2(PRDM8):c.1454G>A (p.Gly485Asp)
|
rs1441323262
|
|
|
NM_001099403.2(PRDM8):c.1455_1463del (p.483AGG[1])
|
|
|
|
NM_001099403.2(PRDM8):c.1461C>T (p.Gly487=)
|
|
|
|
NM_001099403.2(PRDM8):c.1465G>C (p.Gly489Arg)
|
|
|
|
NM_001099403.2(PRDM8):c.1466G>T (p.Gly489Val)
|
rs1379672825
|
|
|
NM_001099403.2(PRDM8):c.1468C>G (p.Gln490Glu)
|
rs1560479209
|
|
|
NM_001099403.2(PRDM8):c.1474G>A (p.Ala492Thr)
|
rs1560479219
|
|
|
NM_001099403.2(PRDM8):c.1476C>G (p.Ala492=)
|
rs1279321008
|
|
|
NM_001099403.2(PRDM8):c.1478C>G (p.Ala493Gly)
|
|
|
|
NM_001099403.2(PRDM8):c.1481C>G (p.Ser494Trp)
|
rs1738658290
|
|
|
NM_001099403.2(PRDM8):c.1497C>T (p.Ser499=)
|
|
|
|
NM_001099403.2(PRDM8):c.1508A>G (p.Gln503Arg)
|
|
|
|
NM_001099403.2(PRDM8):c.1511_1531dup (p.Gln510_Leu511insProAlaArgSerPheSerGln)
|
|
|
|
NM_001099403.2(PRDM8):c.1526C>T (p.Ser509Leu)
|
|
|
|
NM_001099403.2(PRDM8):c.1535C>A (p.Ser512Tyr)
|
|
|
|
NM_001099403.2(PRDM8):c.1546C>T (p.Leu516=)
|
|
|
|
NM_001099403.2(PRDM8):c.1552C>T (p.Gln518Ter)
|
rs1738669010
|
|
|
NM_001099403.2(PRDM8):c.1562G>A (p.Gly521Asp)
|
rs778713373
|
|
|
NM_001099403.2(PRDM8):c.1573C>G (p.Pro525Ala)
|
rs575215294
|
|
|
NM_001099403.2(PRDM8):c.1579C>T (p.His527Tyr)
|
rs2109880022
|
|
|
NM_001099403.2(PRDM8):c.1611C>G (p.Leu537=)
|
|
|
|
NM_001099403.2(PRDM8):c.1615C>T (p.Pro539Ser)
|
rs755993425
|
|
|
NM_001099403.2(PRDM8):c.1634T>C (p.Leu545Pro)
|
rs2109880158
|
|
|
NM_001099403.2(PRDM8):c.1638G>T (p.Ala546=)
|
|
|
|
NM_001099403.2(PRDM8):c.163A>G (p.Ile55Val)
|
rs2109875752
|
|
|
NM_001099403.2(PRDM8):c.1646T>G (p.Leu549Arg)
|
rs1414709299
|
|
|
NM_001099403.2(PRDM8):c.1649A>C (p.Gln550Pro)
|
|
|
|
NM_001099403.2(PRDM8):c.1655C>T (p.Ala552Val)
|
rs559909369
|
|
|
NM_001099403.2(PRDM8):c.1657G>A (p.Ala553Thr)
|
rs867590589
|
|
|
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.1693G>A (p.Gly565Ser)
|
rs866625939
|
|
|
NM_001099403.2(PRDM8):c.1693GGC[5] (p.Gly568dup)
|
rs756781919
|
|
|
NM_001099403.2(PRDM8):c.1698C>G (p.Gly566=)
|
rs1738695026
|
|
|
NM_001099403.2(PRDM8):c.1725C>T (p.Phe575=)
|
|
|
|
NM_001099403.2(PRDM8):c.172A>G (p.Ile58Val)
|
|
|
|
NM_001099403.2(PRDM8):c.1736C>T (p.Thr579Ile)
|
rs1738703576
|
|
|
NM_001099403.2(PRDM8):c.1739C>T (p.Ala580Val)
|
rs1325853079
|
|
|
NM_001099403.2(PRDM8):c.1743C>T (p.Phe581=)
|
|
|
|
NM_001099403.2(PRDM8):c.1744T>C (p.Trp582Arg)
|
rs1738705118
|
|
|
NM_001099403.2(PRDM8):c.1761_1787del (p.Ala590_Ala598del)
|
rs750030014
|
|
|
NM_001099403.2(PRDM8):c.1764C>T (p.Ala588=)
|
|
|
|
NM_001099403.2(PRDM8):c.1766C>T (p.Ala589Val)
|
|
|
|
NM_001099403.2(PRDM8):c.1767T>C (p.Ala589=)
|
rs773515375
|
|
|
NM_001099403.2(PRDM8):c.1767_1775dup (p.Ala596_Ala598dup)
|
rs1480528424
|
|
|
NM_001099403.2(PRDM8):c.1767_1787del (p.Ala592_Ala598del)
|
rs1738710271
|
|
|
NM_001099403.2(PRDM8):c.1770_1781dup (p.Ala595_Ala598dup)
|
rs1044242742
|
|
|
NM_001099403.2(PRDM8):c.1777G>C (p.Ala593Pro)
|
rs1461303254
|
|
|
NM_001099403.2(PRDM8):c.1778_1795del (p.Ala593_Ala598del)
|
rs755316101
|
|
|
NM_001099403.2(PRDM8):c.1779_1784dup (p.Ala597_Ala598dup)
|
rs1395259146
|
|
|
NM_001099403.2(PRDM8):c.1782G>A (p.Ala594=)
|
rs924936492
|
|
|
NM_001099403.2(PRDM8):c.1782GGC[4] (p.Ala598dup)
|
rs770253118
|
|
|
NM_001099403.2(PRDM8):c.1788G>C (p.Ala596=)
|
rs752184496
|
|
|
NM_001099403.2(PRDM8):c.1790C>T (p.Ala597Val)
|
|
|
|
NM_001099403.2(PRDM8):c.17T>A (p.Ile6Asn)
|
rs1738314211
|
|
|
NM_001099403.2(PRDM8):c.1805AGCTGC[1] (p.602QL[1])
|
rs777876948
|
|
|
NM_001099403.2(PRDM8):c.1812G>A (p.Gln604=)
|
rs1553906523
|
|
|
NM_001099403.2(PRDM8):c.1833G>C (p.Leu611=)
|
|
|
|
NM_001099403.2(PRDM8):c.1838C>G (p.Pro613Arg)
|
rs1553906552
|
|
|
NM_001099403.2(PRDM8):c.1839G>T (p.Pro613=)
|
|
|
|
NM_001099403.2(PRDM8):c.1845C>T (p.Ser615=)
|
|
|
|
NM_001099403.2(PRDM8):c.1871A>C (p.Gln624Pro)
|
|
|
|
NM_001099403.2(PRDM8):c.1874A>G (p.Asn625Ser)
|
rs1738732855
|
|
|
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.1897T>G (p.Ser633Ala)
|
rs2109880734
|
|
|
NM_001099403.2(PRDM8):c.192C>A (p.Asp64Glu)
|
rs1353802596
|
|
|
NM_001099403.2(PRDM8):c.1950G>A (p.Lys650=)
|
|
|
|
NM_001099403.2(PRDM8):c.1951_1952delinsAT (p.Glu651Met)
|
rs1578268165
|
|
|
NM_001099403.2(PRDM8):c.1959G>T (p.Ala653=)
|
|
|
|
NM_001099403.2(PRDM8):c.1967C>T (p.Pro656Leu)
|
rs780244125
|
|
|
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.2057C>G (p.Thr686Ser)
|
rs1560481395
|
|
|
NM_001099403.2(PRDM8):c.2060C>G (p.Ser687Trp)
|
rs2109880891
|
|
|
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.224A>T (p.Asp75Val)
|
rs2109876937
|
|
|
NM_001099403.2(PRDM8):c.250G>A (p.Glu84Lys)
|
rs1738421294
|
|
|
NM_001099403.2(PRDM8):c.259A>G (p.Met87Val)
|
|
|
|
NM_001099403.2(PRDM8):c.328G>A (p.Gly110Arg)
|
rs199746703
|
|
|
NM_001099403.2(PRDM8):c.331C>G (p.Gln111Glu)
|
|
|
|
NM_001099403.2(PRDM8):c.34G>A (p.Asp12Asn)
|
rs768984964
|
|
|
NM_001099403.2(PRDM8):c.363C>G (p.Ala121=)
|
rs1263648679
|
|
|
NM_001099403.2(PRDM8):c.36T>G (p.Asp12Glu)
|
|
|
|
NM_001099403.2(PRDM8):c.415T>C (p.Leu139=)
|
rs1738440035
|
|
|
NM_001099403.2(PRDM8):c.424C>T (p.Pro142Ser)
|
|
|
|
NM_001099403.2(PRDM8):c.441_444del (p.Asn147fs)
|
rs2109877216
|
|
|
NM_001099403.2(PRDM8):c.451+20G>A
|
rs2109877266
|
|
|
NM_001099403.2(PRDM8):c.452-19G>T
|
rs777390514
|
|
|
NM_001099403.2(PRDM8):c.502T>C (p.Phe168Leu)
|
|
|
|
NM_001099403.2(PRDM8):c.504C>T (p.Phe168=)
|
|
|
|
NM_001099403.2(PRDM8):c.506C>T (p.Pro169Leu)
|
rs775462847
|
|
|
NM_001099403.2(PRDM8):c.532T>C (p.Cys178Arg)
|
rs2109877963
|
|
|
NM_001099403.2(PRDM8):c.552C>A (p.Ser184Arg)
|
rs767040118
|
|
|
NM_001099403.2(PRDM8):c.556G>C (p.Asp186His)
|
|
|
|
NM_001099403.2(PRDM8):c.560T>C (p.Ile187Thr)
|
rs1191905970
|
|
|
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.581G>A (p.Gly194Asp)
|
|
|
|
NM_001099403.2(PRDM8):c.589G>T (p.Val197Leu)
|
rs1578262845
|
|
|
NM_001099403.2(PRDM8):c.58C>A (p.Gln20Lys)
|
rs766294833
|
|
|
NM_001099403.2(PRDM8):c.591G>T (p.Val197=)
|
|
|
|
NM_001099403.2(PRDM8):c.593G>A (p.Gly198Asp)
|
rs776620537
|
|
|
NM_001099403.2(PRDM8):c.611G>A (p.Gly204Asp)
|
rs2109878137
|
|
|
NM_001099403.2(PRDM8):c.612CGG[5] (p.Gly209dup)
|
rs769029025
|
|
|
NM_001099403.2(PRDM8):c.620G>A (p.Gly207Asp)
|
rs764059996
|
|
|
NM_001099403.2(PRDM8):c.630A>G (p.Lys210=)
|
rs1738515726
|
|
|
NM_001099403.2(PRDM8):c.633C>T (p.Asp211=)
|
|
|
|
NM_001099403.2(PRDM8):c.634CAG[7] (p.Gln217dup)
|
rs748593482
|
|
|
NM_001099403.2(PRDM8):c.639G>A (p.Gln213=)
|
rs749943042
|
|
|
NM_001099403.2(PRDM8):c.649C>A (p.Gln217Lys)
|
|
|
|
NM_001099403.2(PRDM8):c.649C>G (p.Gln217Glu)
|
|
|
|
NM_001099403.2(PRDM8):c.654G>A (p.Glu218=)
|
rs1553905625
|
|
|
NM_001099403.2(PRDM8):c.658C>T (p.Pro220Ser)
|
rs1738523106
|
|
|
NM_001099403.2(PRDM8):c.666C>T (p.Gly222=)
|
|
|
|
NM_001099403.2(PRDM8):c.687A>C (p.Lys229Asn)
|
rs1553905669
|
|
|
NM_001099403.2(PRDM8):c.687A>G (p.Lys229=)
|
|
|
|
NM_001099403.2(PRDM8):c.710C>T (p.Pro237Leu)
|
rs1738530929
|
|
|
NM_001099403.2(PRDM8):c.715C>A (p.Pro239Thr)
|
rs760107518
|
|
|
NM_001099403.2(PRDM8):c.728G>T (p.Ser243Ile)
|
rs764408979
|
|
|
NM_001099403.2(PRDM8):c.736C>A (p.Pro246Thr)
|
rs1330185577
|
|
|
NM_001099403.2(PRDM8):c.736C>T (p.Pro246Ser)
|
rs1330185577
|
|
|
NM_001099403.2(PRDM8):c.740C>G (p.Ser247Cys)
|
rs781560136
|
|
|
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.761G>C (p.Ser254Thr)
|
rs1738540197
|
|
|
NM_001099403.2(PRDM8):c.781T>C (p.Phe261Leu)
|
rs863225286
|
|
|
NM_001099403.2(PRDM8):c.796A>T (p.Arg266Trp)
|
|
|
|
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.850_861del (p.Ser284_Ser287del)
|
rs1455395711
|
|
|
NM_001099403.2(PRDM8):c.859AGCGGC[1] (p.285SG[2])
|
rs763199170
|
|
|
NM_001099403.2(PRDM8):c.85G>A (p.Val29Ile)
|
|
|
|
NM_001099403.2(PRDM8):c.865_873dup (p.Gly291_Gly292insSerGlyGly)
|
|
|
|
NM_001099403.2(PRDM8):c.865_876dup (p.Ser289_Gly292dup)
|
rs771118168
|
|
|
NM_001099403.2(PRDM8):c.867C>T (p.Ser289=)
|
rs750918327
|
|
|
NM_001099403.2(PRDM8):c.868GGC[2] (p.Gly292_Gly294del)
|
rs752636419
|
|
|
NM_001099403.2(PRDM8):c.868GGC[6] (p.Gly294dup)
|
rs752636419
|
|
|
NM_001099403.2(PRDM8):c.868GGC[7] (p.Gly293_Gly294dup)
|
rs752636419
|
|
|
NM_001099403.2(PRDM8):c.868GGC[8] (p.Gly292_Gly294dup)
|
rs752636419
|
|
|
NM_001099403.2(PRDM8):c.877G>A (p.Gly293Ser)
|
rs1738555644
|
|
|
NM_001099403.2(PRDM8):c.880G>T (p.Gly294Cys)
|
rs1738555862
|
|
|
NM_001099403.2(PRDM8):c.886C>T (p.Gln296Ter)
|
|
|
|
NM_001099403.2(PRDM8):c.895G>C (p.Glu299Gln)
|
rs1294279847
|
|
|
NM_001099403.2(PRDM8):c.901A>G (p.Ser301Gly)
|
rs2109878731
|
|
|
NM_001099403.2(PRDM8):c.904C>A (p.Pro302Thr)
|
rs1357775685
|
|
|
NM_001099403.2(PRDM8):c.921G>C (p.Thr307=)
|
rs770919711
|
|
|
NM_001099403.2(PRDM8):c.929G>T (p.Gly310Val)
|
|
|
|
NM_001099403.2(PRDM8):c.945A>G (p.Lys315=)
|
|
|
|
NM_001099403.2(PRDM8):c.951G>A (p.Pro317=)
|
|
|
|
NM_001099403.2(PRDM8):c.956A>C (p.Glu319Ala)
|
rs1234825510
|
|
|
NM_001099403.2(PRDM8):c.972C>T (p.Gly324=)
|
rs528863020
|
|
|
NM_001099403.2(PRDM8):c.995G>A (p.Gly332Asp)
|
|
|
|
NM_001099403.2(PRDM8):c.996C>G (p.Gly332=)
|
|
|
|
NM_001099403.2(PRDM8):c.998G>T (p.Arg333Leu)
|
rs1323000516
|
|
|
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.1009A>C (p.Thr337Pro)
|
|
|
|
NM_001112741.2(KCNC1):c.1011G>A (p.Thr337=)
|
|
|
|
NM_001112741.2(KCNC1):c.1011G>T (p.Thr337=)
|
rs1408786425
|
|
|
NM_001112741.2(KCNC1):c.1015C>T (p.Arg339Ter)
|
rs1849236683
|
|
|
NM_001112741.2(KCNC1):c.1023C>G (p.Ser341Arg)
|
|
|
|
NM_001112741.2(KCNC1):c.102C>A (p.Leu34=)
|
rs370742331
|
|
|
NM_001112741.2(KCNC1):c.102C>T (p.Leu34=)
|
|
|
|
NM_001112741.2(KCNC1):c.1058C>T (p.Ala353Val)
|
|
|
|
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.1078G>A (p.Ala360Thr)
|
|
|
|
NM_001112741.2(KCNC1):c.1087A>G (p.Ile363Val)
|
|
|
|
NM_001112741.2(KCNC1):c.108del (p.Trp36fs)
|
rs1590088831
|
|
|
NM_001112741.2(KCNC1):c.1096G>T (p.Ala366Ser)
|
|
|
|
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.1121A>G (p.Asn374Ser)
|
|
|
|
NM_001112741.2(KCNC1):c.1149C>T (p.His383=)
|
rs555654219
|
|
|
NM_001112741.2(KCNC1):c.1154A>C (p.Lys385Thr)
|
rs1554991360
|
|
|
NM_001112741.2(KCNC1):c.1173C>T (p.Phe391=)
|
|
|
|
NM_001112741.2(KCNC1):c.1196C>T (p.Thr399Met)
|
rs2133805364
|
|
|
NM_001112741.2(KCNC1):c.1199C>A (p.Thr400Asn)
|
|
|
|
NM_001112741.2(KCNC1):c.11G>A (p.Gly4Glu)
|
rs1848761561
|
|
|
NM_001112741.2(KCNC1):c.1204G>A (p.Gly402Ser)
|
|
|
|
NM_001112741.2(KCNC1):c.120C>G (p.Pro40=)
|
rs1590088845
|
|
|
NM_001112741.2(KCNC1):c.1211G>A (p.Gly404Glu)
|
|
|
|
NM_001112741.2(KCNC1):c.1223C>T (p.Pro408Leu)
|
rs1355766508
|
|
|
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.1252G>T (p.Ala418Ser)
|
rs1849239426
|
|
|
NM_001112741.2(KCNC1):c.1260T>C (p.Cys420=)
|
|
|
|
NM_001112741.2(KCNC1):c.1261G>A (p.Ala421Thr)
|
rs1565162836
|
|
|
NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val)
|
rs1554991378
|
|
|
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.1267G>T (p.Ala423Ser)
|
rs2133805436
|
|
|
NM_001112741.2(KCNC1):c.1268C>T (p.Ala423Val)
|
|
|
|
NM_001112741.2(KCNC1):c.1271G>C (p.Gly424Ala)
|
|
|
|
NM_001112741.2(KCNC1):c.1272C>T (p.Gly424=)
|
|
|
|
NM_001112741.2(KCNC1):c.1273G>A (p.Val425Met)
|
rs1085307785
|
|
|
NM_001112741.2(KCNC1):c.1278C>G (p.Leu426=)
|
|
|
|
NM_001112741.2(KCNC1):c.1278C>T (p.Leu426=)
|
|
|
|
NM_001112741.2(KCNC1):c.1285G>A (p.Ala429Thr)
|
rs2133805458
|
|
|
NM_001112741.2(KCNC1):c.1290G>T (p.Met430Ile)
|
|
|
|
NM_001112741.2(KCNC1):c.1293C>G (p.Pro431=)
|
rs577711585
|
|
|
NM_001112741.2(KCNC1):c.1293C>T (p.Pro431=)
|
rs577711585
|
|
|
NM_001112741.2(KCNC1):c.1294G>A (p.Val432Met)
|
rs1057524670
|
|
|
NM_001112741.2(KCNC1):c.1294G>C (p.Val432Leu)
|
|
|
|
NM_001112741.2(KCNC1):c.1299C>T (p.Pro433=)
|
|
|
|
NM_001112741.2(KCNC1):c.1300G>C (p.Val434Leu)
|
rs1849240404
|
|
|
NM_001112741.2(KCNC1):c.130A>G (p.Ser44Gly)
|
|
|
|
NM_001112741.2(KCNC1):c.1321A>T (p.Met441Leu)
|
rs1849240546
|
|
|
NM_001112741.2(KCNC1):c.1331C>T (p.Ser444Phe)
|
|
|
|
NM_001112741.2(KCNC1):c.1332C>T (p.Ser444=)
|
rs1849240658
|
|
|
NM_001112741.2(KCNC1):c.133C>T (p.His45Tyr)
|
rs1470613305
|
|
|
NM_001112741.2(KCNC1):c.134A>G (p.His45Arg)
|
|
|
|
NM_001112741.2(KCNC1):c.1350G>A (p.Gln450=)
|
|
|
|
NM_001112741.2(KCNC1):c.1353A>G (p.Lys451=)
|
|
|
|
NM_001112741.2(KCNC1):c.1370A>T (p.Lys457Met)
|
|
|
|
NM_001112741.2(KCNC1):c.1370del (p.Lys457fs)
|
rs1590106815
|
|
|
NM_001112741.2(KCNC1):c.1372A>C (p.Lys458Gln)
|
|
|
|
NM_001112741.2(KCNC1):c.1374G>A (p.Lys458=)
|
|
|
|
NM_001112741.2(KCNC1):c.1378A>G (p.Ile460Val)
|
|
|
|
NM_001112741.2(KCNC1):c.1386del (p.Pro463fs)
|
rs2133805531
|
|
|
NM_001112741.2(KCNC1):c.138C>G (p.Phe46Leu)
|
rs1848763448
|
|
|
NM_001112741.2(KCNC1):c.1399G>C (p.Gly467Arg)
|
rs1477026732
|
|
|
NM_001112741.2(KCNC1):c.1407C>A (p.Pro469=)
|
|
|
|
NM_001112741.2(KCNC1):c.1413T>C (p.Tyr471=)
|
rs1395569436
|
|
|
NM_001112741.2(KCNC1):c.1419A>T (p.Lys473Asn)
|
rs2133805555
|
|
|
NM_001112741.2(KCNC1):c.1421C>A (p.Ser474Tyr)
|
rs1554991422
|
|
|
NM_001112741.2(KCNC1):c.1421C>G (p.Ser474Cys)
|
rs1554991422
|
|
|
NM_001112741.2(KCNC1):c.1425C>T (p.Val475=)
|
|
|
|
NM_001112741.2(KCNC1):c.1430A>G (p.Asn477Ser)
|
rs1849241725
|
|
|
NM_001112741.2(KCNC1):c.1438C>A (p.His480Asn)
|
rs1554991425
|
|
|
NM_001112741.2(KCNC1):c.1440C>T (p.His480=)
|
rs1554991429
|
|
|
NM_001112741.2(KCNC1):c.1460C>G (p.Thr487Arg)
|
|
|
|
NM_001112741.2(KCNC1):c.1466C>T (p.Pro489Leu)
|
rs772473741
|
|
|
NM_001112741.2(KCNC1):c.1468C>T (p.Leu490=)
|
|
|
|
NM_001112741.2(KCNC1):c.147C>T (p.Asp49=)
|
rs2133774090
|
|
|
NM_001112741.2(KCNC1):c.1494T>G (p.Ile498Met)
|
rs761924422
|
|
|
NM_001112741.2(KCNC1):c.1501G>C (p.Ala501Pro)
|
|
|
|
NM_001112741.2(KCNC1):c.1504G>A (p.Asp502Asn)
|
rs1849242580
|
|
|
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.1505A>G (p.Asp502Gly)
|
rs1590109843
|
|
|
NM_001112741.2(KCNC1):c.150G>C (p.Pro50=)
|
|
|
|
NM_001112741.2(KCNC1):c.1524G>T (p.Glu508Asp)
|
rs767680364
|
|
|
NM_001112741.2(KCNC1):c.1525G>A (p.Val509Met)
|
rs2133810389
|
|
|
NM_001112741.2(KCNC1):c.1529C>T (p.Ala510Val)
|
rs1849322367
|
|
|
NM_001112741.2(KCNC1):c.1532A>G (p.Lys511Arg)
|
rs2133810396
|
|
|
NM_001112741.2(KCNC1):c.1534G>C (p.Ala512Pro)
|
rs777209898
|
|
|
NM_001112741.2(KCNC1):c.1544C>A (p.Ala515Glu)
|
rs917512311
|
|
|
NM_001112741.2(KCNC1):c.1544C>T (p.Ala515Val)
|
rs917512311
|
|
|
NM_001112741.2(KCNC1):c.1546A>G (p.Asn516Asp)
|
|
|
|
NM_001112741.2(KCNC1):c.1567G>A (p.Asp523Asn)
|
rs2133810423
|
|
|
NM_001112741.2(KCNC1):c.1573G>A (p.Ala525Thr)
|
|
|
|
NM_001112741.2(KCNC1):c.1584C>G (p.Pro528=)
|
rs1044982783
|
|
|
NM_001112741.2(KCNC1):c.1587T>C (p.Asp529=)
|
|
|
|
NM_001112741.2(KCNC1):c.1591G>A (p.Gly531Ser)
|
|
|
|
NM_001112741.2(KCNC1):c.1607G>C (p.Arg536Pro)
|
|
|
|
NM_001112741.2(KCNC1):c.1611G>A (p.Ser537=)
|
|
|
|
NM_001112741.2(KCNC1):c.1614C>A (p.Gly538=)
|
|
|
|
NM_001112741.2(KCNC1):c.1621G>C (p.Glu541Gln)
|
rs896883949
|
|
|
NM_001112741.2(KCNC1):c.1625G>A (p.Arg542Lys)
|
rs1021551048
|
|
|
NM_001112741.2(KCNC1):c.1625G>T (p.Arg542Ile)
|
rs1021551048
|
|
|
NM_001112741.2(KCNC1):c.1633C>T (p.Pro545Ser)
|
|
|
|
NM_001112741.2(KCNC1):c.1647A>T (p.Leu549Phe)
|
|
|
|
NM_001112741.2(KCNC1):c.1648T>A (p.Ser550Thr)
|
rs2133810488
|
|
|
NM_001112741.2(KCNC1):c.1648T>C (p.Ser550Pro)
|
rs2133810488
|
|
|
NM_001112741.2(KCNC1):c.1649C>T (p.Ser550Leu)
|
rs1849324263
|
|
|
NM_001112741.2(KCNC1):c.1651A>C (p.Thr551Pro)
|
|
|
|
NM_001112741.2(KCNC1):c.1653C>G (p.Thr551=)
|
|
|
|
NM_001112741.2(KCNC1):c.1654G>A (p.Gly552Arg)
|
rs755386451
|
|
|
NM_001112741.2(KCNC1):c.1654G>C (p.Gly552Arg)
|
rs755386451
|
|
|
NM_001112741.2(KCNC1):c.1660T>G (p.Tyr554Asp)
|
rs1167541162
|
|
|
NM_001112741.2(KCNC1):c.1662C>A (p.Tyr554Ter)
|
|
|
|
NM_001112741.2(KCNC1):c.1673C>T (p.Pro558Leu)
|
rs749270474
|
|
|
NM_001112741.2(KCNC1):c.1693+10G>A
|
|
|
|
NM_001112741.2(KCNC1):c.1694-20A>C
|
|
|
|
NM_001112741.2(KCNC1):c.16G>C (p.Glu6Gln)
|
rs2133773929
|
|
|
NM_001112741.2(KCNC1):c.1704A>G (p.Lys568=)
|
rs1590110945
|
|
|
NM_001112741.2(KCNC1):c.1711C>T (p.Pro571Ser)
|
|
|
|
NM_001112741.2(KCNC1):c.1731G>C (p.Met577Ile)
|
|
|
|
NM_001112741.2(KCNC1):c.1733C>T (p.Pro578Leu)
|
rs1361289047
|
|
|
NM_001112741.2(KCNC1):c.1748G>A (p.Arg583Lys)
|
|
|
|
NM_001112741.2(KCNC1):c.1755T>C (p.Thr585=)
|
rs1849348583
|
|
|
NM_001112741.2(KCNC1):c.176G>A (p.Arg59His)
|
rs2133774134
|
|
|
NM_001112741.2(KCNC1):c.183C>T (p.Pro61=)
|
rs1565152688
|
|
|
NM_001112741.2(KCNC1):c.215G>T (p.Arg72Leu)
|
rs1848764021
|
|
|
NM_001112741.2(KCNC1):c.219G>C (p.Thr73=)
|
rs760446616
|
|
|
NM_001112741.2(KCNC1):c.219G>T (p.Thr73=)
|
|
|
|
NM_001112741.2(KCNC1):c.223A>G (p.Lys75Glu)
|
rs1565152713
|
|
|
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.256C>T (p.Leu86Phe)
|
|
|
|
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.282G>T (p.Trp94Cys)
|
rs1848764853
|
|
|
NM_001112741.2(KCNC1):c.285C>T (p.Gly95=)
|
|
|
|
NM_001112741.2(KCNC1):c.30C>T (p.Ile10=)
|
|
|
|
NM_001112741.2(KCNC1):c.320T>C (p.Met107Thr)
|
|
|
|
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.391G>A (p.Ala131Thr)
|
|
|
|
NM_001112741.2(KCNC1):c.392C>A (p.Ala131Asp)
|
rs1848765901
|
|
|
NM_001112741.2(KCNC1):c.393C>T (p.Ala131=)
|
rs1208626021
|
|
|
NM_001112741.2(KCNC1):c.400_414del (p.Ala134_Gly138del)
|
|
|
|
NM_001112741.2(KCNC1):c.401C>T (p.Ala134Val)
|
|
|
|
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.409G>A (p.Asp137Asn)
|
rs1848766389
|
|
|
NM_001112741.2(KCNC1):c.420C>A (p.Gly140=)
|
rs750885846
|
|
|
NM_001112741.2(KCNC1):c.423C>G (p.Asp141Glu)
|
|
|
|
NM_001112741.2(KCNC1):c.428G>A (p.Gly143Asp)
|
rs1848766892
|
|
|
NM_001112741.2(KCNC1):c.432C>T (p.Asp144=)
|
|
|
|
NM_001112741.2(KCNC1):c.435C>A (p.Gly145=)
|
rs767598381
|
|
|
NM_001112741.2(KCNC1):c.435C>T (p.Gly145=)
|
rs767598381
|
|
|
NM_001112741.2(KCNC1):c.439G>A (p.Asp147Asn)
|
|
|
|
NM_001112741.2(KCNC1):c.441C>G (p.Asp147Glu)
|
rs1279299321
|
|
|
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.479C>T (p.Ser160Phe)
|
|
|
|
NM_001112741.2(KCNC1):c.483G>C (p.Pro161=)
|
|
|
|
NM_001112741.2(KCNC1):c.486T>A (p.Asp162Glu)
|
rs1436435735
|
|
|
NM_001112741.2(KCNC1):c.486T>G (p.Asp162Glu)
|
|
|
|
NM_001112741.2(KCNC1):c.487G>A (p.Gly163Ser)
|
rs570508576
|
|
|
NM_001112741.2(KCNC1):c.489C>T (p.Gly163=)
|
rs1848767998
|
|
|
NM_001112741.2(KCNC1):c.490C>T (p.Arg164Trp)
|
rs756544748
|
|
|
NM_001112741.2(KCNC1):c.492G>C (p.Arg164=)
|
rs200097310
|
|
|
NM_001112741.2(KCNC1):c.497G>A (p.Gly166Asp)
|
rs1848768219
|
|
|
NM_001112741.2(KCNC1):c.499G>T (p.Gly167Cys)
|
rs1274575581
|
|
|
NM_001112741.2(KCNC1):c.500G>A (p.Gly167Asp)
|
rs780758127
|
|
|
NM_001112741.2(KCNC1):c.512G>A (p.Arg171His)
|
|
|
|
NM_001112741.2(KCNC1):c.51G>A (p.Thr17=)
|
rs1423569470
|
|
|
NM_001112741.2(KCNC1):c.526A>T (p.Ile176Phe)
|
|
|
|
NM_001112741.2(KCNC1):c.528C>G (p.Ile176Met)
|
|
|
|
NM_001112741.2(KCNC1):c.535C>T (p.Leu179Phe)
|
|
|
|
NM_001112741.2(KCNC1):c.540C>T (p.Phe180=)
|
|
|
|
NM_001112741.2(KCNC1):c.548C>G (p.Pro183Arg)
|
rs1848768884
|
|
|
NM_001112741.2(KCNC1):c.554C>T (p.Ser185Leu)
|
rs1565152898
|
|
|
NM_001112741.2(KCNC1):c.558C>T (p.Ser186=)
|
rs1239110234
|
|
|
NM_001112741.2(KCNC1):c.563A>G (p.Tyr188Cys)
|
rs1027286161
|
|
|
NM_001112741.2(KCNC1):c.570+11A>G
|
rs2133774637
|
|
|
NM_001112741.2(KCNC1):c.571-15T>A
|
|
|
|
NM_001112741.2(KCNC1):c.571-17T>A
|
|
|
|
NM_001112741.2(KCNC1):c.594C>G (p.Phe198Leu)
|
|
|
|
NM_001112741.2(KCNC1):c.603G>T (p.Leu201=)
|
|
|
|
NM_001112741.2(KCNC1):c.611T>C (p.Ile204Thr)
|
rs1554991304
|
|
|
NM_001112741.2(KCNC1):c.612C>A (p.Ile204=)
|
rs1294173097
|
|
|
NM_001112741.2(KCNC1):c.637G>A (p.Glu213Lys)
|
|
|
|
NM_001112741.2(KCNC1):c.640C>A (p.Arg214Ser)
|
|
|
|
NM_001112741.2(KCNC1):c.640C>T (p.Arg214Cys)
|
rs772042572
|
|
|
NM_001112741.2(KCNC1):c.641G>A (p.Arg214His)
|
|
|
|
NM_001112741.2(KCNC1):c.649C>T (p.Pro217Ser)
|
|
|
|
NM_001112741.2(KCNC1):c.655G>A (p.Val219Met)
|
|
|
|
NM_001112741.2(KCNC1):c.665C>T (p.Thr222Met)
|
|
|
|
NM_001112741.2(KCNC1):c.672C>A (p.Ile224=)
|
rs773018717
|
|
|
NM_001112741.2(KCNC1):c.679G>A (p.Val227Ile)
|
rs1590106427
|
|
|
NM_001112741.2(KCNC1):c.683G>A (p.Arg228His)
|
rs200873319
|
|
|
NM_001112741.2(KCNC1):c.683G>C (p.Arg228Pro)
|
rs200873319
|
|
|
NM_001112741.2(KCNC1):c.68G>A (p.Arg23His)
|
rs1158193192
|
|
|
NM_001112741.2(KCNC1):c.691A>G (p.Thr231Ala)
|
rs1565162623
|
|
|
NM_001112741.2(KCNC1):c.692C>T (p.Thr231Met)
|
rs1554991314
|
|
|
NM_001112741.2(KCNC1):c.700C>T (p.Arg234Cys)
|
|
|
|
NM_001112741.2(KCNC1):c.702C>G (p.Arg234=)
|
rs1849232973
|
|
|
NM_001112741.2(KCNC1):c.706T>C (p.Tyr236His)
|
rs1849232996
|
|
|
NM_001112741.2(KCNC1):c.707A>G (p.Tyr236Cys)
|
|
|
|
NM_001112741.2(KCNC1):c.710G>T (p.Arg237Leu)
|
|
|
|
NM_001112741.2(KCNC1):c.714G>A (p.Glu238=)
|
rs2133804963
|
|
|
NM_001112741.2(KCNC1):c.71C>G (p.Ser24Trp)
|
|
|
|
NM_001112741.2(KCNC1):c.722C>G (p.Thr241Arg)
|
|
|
|
NM_001112741.2(KCNC1):c.728C>A (p.Ala243Asp)
|
|
|
|
NM_001112741.2(KCNC1):c.729C>T (p.Ala243=)
|
rs1565162637
|
|
|
NM_001112741.2(KCNC1):c.742A>G (p.Ile248Val)
|
|
|
|
NM_001112741.2(KCNC1):c.744C>T (p.Ile248=)
|
rs2229007
|
|
|
NM_001112741.2(KCNC1):c.74C>T (p.Thr25Ile)
|
|
|
|
NM_001112741.2(KCNC1):c.775G>A (p.Glu259Lys)
|
rs1849234046
|
|
|
NM_001112741.2(KCNC1):c.785T>C (p.Met262Thr)
|
|
|
|
NM_001112741.2(KCNC1):c.788G>A (p.Arg263His)
|
rs775163829
|
|
|
NM_001112741.2(KCNC1):c.78G>C (p.Leu26=)
|
rs762218553
|
|
|
NM_001112741.2(KCNC1):c.792C>T (p.Val264=)
|
|
|
|
NM_001112741.2(KCNC1):c.793A>G (p.Ile265Val)
|
|
|
|
NM_001112741.2(KCNC1):c.801C>T (p.Cys267=)
|
|
|
|
NM_001112741.2(KCNC1):c.805A>G (p.Asn269Asp)
|
|
|
|
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.847T>C (p.Phe283Leu)
|
rs940677477
|
|
|
NM_001112741.2(KCNC1):c.84G>A (p.Thr28=)
|
|
|
|
NM_001112741.2(KCNC1):c.859C>A (p.Leu287Met)
|
rs1849234887
|
|
|
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.90C>A (p.Pro30=)
|
rs1848762536
|
|
|
NM_001112741.2(KCNC1):c.916G>A (p.Val306Met)
|
rs369830206
|
|
|
NM_001112741.2(KCNC1):c.916G>T (p.Val306Leu)
|
rs369830206
|
|
|
NM_001112741.2(KCNC1):c.919C>T (p.Leu307=)
|
rs1158060067
|
|
|
NM_001112741.2(KCNC1):c.91G>A (p.Gly31Ser)
|
rs2133774003
|
|
|
NM_001112741.2(KCNC1):c.936C>T (p.Val312=)
|
|
|
|
NM_001112741.2(KCNC1):c.948G>A (p.Val316=)
|
rs1462259575
|
|
|
NM_001112741.2(KCNC1):c.958del (p.Arg320fs)
|
rs2133805185
|
|
|
NM_001112741.2(KCNC1):c.959G>A (p.Arg320His)
|
rs727502818
|
|
|
NM_001112741.2(KCNC1):c.983T>C (p.Phe328Ser)
|
|
|
|
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.1006G>A (p.Ala336Thr)
|
rs1268255256
|
|
|
NM_001122752.2(SERPINI1):c.1013A>G (p.His338Arg)
|
rs121909052
|
|
|
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.1039G>T (p.Glu347Ter)
|
rs1560020073
|
|
|
NM_001122752.2(SERPINI1):c.1046C>T (p.Ser349Leu)
|
|
|
|
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.106C>T (p.Arg36Cys)
|
rs61735306
|
|
|
NM_001122752.2(SERPINI1):c.1071G>A (p.Met357Ile)
|
rs1168773849
|
|
|
NM_001122752.2(SERPINI1):c.1071G>C (p.Met357Ile)
|
rs1168773849
|
|
|
NM_001122752.2(SERPINI1):c.1097T>C (p.Leu366Pro)
|
|
|
|
NM_001122752.2(SERPINI1):c.109C>T (p.Leu37Phe)
|
rs1727416167
|
|
|
NM_001122752.2(SERPINI1):c.10C>T (p.Leu4Phe)
|
rs1483914626
|
|
|
NM_001122752.2(SERPINI1):c.1135C>T (p.Leu379Phe)
|
|
|
|
NM_001122752.2(SERPINI1):c.1139T>C (p.Ile380Thr)
|
rs1560020646
|
|
|
NM_001122752.2(SERPINI1):c.1141A>C (p.Arg381=)
|
|
|
|
NM_001122752.2(SERPINI1):c.1157-10A>G
|
|
|
|
NM_001122752.2(SERPINI1):c.1157-18A>T
|
|
|
|
NM_001122752.2(SERPINI1):c.1157-4A>G
|
rs2108576458
|
|
|
NM_001122752.2(SERPINI1):c.1157G>A (p.Gly386Asp)
|
|
|
|
NM_001122752.2(SERPINI1):c.1162A>C (p.Ile388Leu)
|
rs1712477543
|
|
|
NM_001122752.2(SERPINI1):c.1167A>G (p.Leu389=)
|
|
|
|
NM_001122752.2(SERPINI1):c.1173G>C (p.Met391Ile)
|
rs1370761997
|
|
|
NM_001122752.2(SERPINI1):c.1174G>A (p.Gly392Arg)
|
rs121909054
|
|
|
NM_001122752.2(SERPINI1):c.1174G>C (p.Gly392Arg)
|
rs121909054
|
|
|
NM_001122752.2(SERPINI1):c.1175G>A (p.Gly392Glu)
|
rs121909053
|
|
|
NM_001122752.2(SERPINI1):c.1176A>C (p.Gly392=)
|
|
|
|
NM_001122752.2(SERPINI1):c.1176A>T (p.Gly392=)
|
rs775874977
|
|
|
NM_001122752.2(SERPINI1):c.1178G>A (p.Arg393Gln)
|
|
|
|
NM_001122752.2(SERPINI1):c.1183A>C (p.Met395Leu)
|
|
|
|
NM_001122752.2(SERPINI1):c.1184T>C (p.Met395Thr)
|
rs761969364
|
|
|
NM_001122752.2(SERPINI1):c.1202A>G (p.Asn401Ser)
|
rs2108576523
|
|
|
NM_001122752.2(SERPINI1):c.1221C>T (p.Phe407=)
|
rs149238028
|
|
|
NM_001122752.2(SERPINI1):c.1225G>C (p.Glu409Gln)
|
rs777674608
|
|
|
NM_001122752.2(SERPINI1):c.1231dup (p.Ter411LeuextTer?)
|
rs2108576541
|
|
|
NM_001122752.2(SERPINI1):c.132A>G (p.Glu44=)
|
|
|
|
NM_001122752.2(SERPINI1):c.137T>C (p.Ile46Thr)
|
rs2108556293
|
|
|
NM_001122752.2(SERPINI1):c.140T>C (p.Leu47Pro)
|
|
|
|
NM_001122752.2(SERPINI1):c.145T>C (p.Ser49Pro)
|
rs121909051
|
|
|
NM_001122752.2(SERPINI1):c.14G>T (p.Gly5Val)
|
|
|
|
NM_001122752.2(SERPINI1):c.152T>C (p.Leu51Ser)
|
rs2108556315
|
|
|
NM_001122752.2(SERPINI1):c.154A>C (p.Ser52Arg)
|
rs1577418477
|
|
|
NM_001122752.2(SERPINI1):c.158T>C (p.Ile53Thr)
|
|
|
|
NM_001122752.2(SERPINI1):c.161C>T (p.Ala54Val)
|
rs769948709
|
|
|
NM_001122752.2(SERPINI1):c.173G>A (p.Gly58Glu)
|
|
|
|
NM_001122752.2(SERPINI1):c.175A>G (p.Met59Val)
|
rs1727418833
|
|
|
NM_001122752.2(SERPINI1):c.189G>A (p.Gly63=)
|
|
|
|
NM_001122752.2(SERPINI1):c.200C>A (p.Ser67Tyr)
|
rs1577418542
|
|
|
NM_001122752.2(SERPINI1):c.203C>A (p.Thr68Asn)
|
rs1577418551
|
|
|
NM_001122752.2(SERPINI1):c.217C>G (p.Arg73Gly)
|
rs369596299
|
|
|
NM_001122752.2(SERPINI1):c.219C>T (p.Arg73=)
|
|
|
|
NM_001122752.2(SERPINI1):c.220C>G (p.His74Asp)
|
rs1445299347
|
|
|
NM_001122752.2(SERPINI1):c.228G>A (p.Met76Ile)
|
|
|
|
NM_001122752.2(SERPINI1):c.236A>G (p.Asp79Gly)
|
|
|
|
NM_001122752.2(SERPINI1):c.240C>G (p.Ser80Arg)
|
rs2108556439
|
|
|
NM_001122752.2(SERPINI1):c.250+11T>C
|
|
|
|
NM_001122752.2(SERPINI1):c.250+9G>A
|
rs1218012905
|
|
|
NM_001122752.2(SERPINI1):c.251-1G>C
|
|
|
|
NM_001122752.2(SERPINI1):c.251-7C>T
|
rs751958524
|
|
|
NM_001122752.2(SERPINI1):c.260T>C (p.Phe87Ser)
|
|
|
|
NM_001122752.2(SERPINI1):c.268T>C (p.Leu90=)
|
|
|
|
NM_001122752.2(SERPINI1):c.287T>C (p.Met96Thr)
|
|
|
|
NM_001122752.2(SERPINI1):c.28C>T (p.Leu10=)
|
|
|
|
NM_001122752.2(SERPINI1):c.293C>T (p.Thr98Ile)
|
|
|
|
NM_001122752.2(SERPINI1):c.297T>C (p.Ala99=)
|
rs61761891
|
|
|
NM_001122752.2(SERPINI1):c.303G>A (p.Glu101=)
|
|
|
|
NM_001122752.2(SERPINI1):c.311A>T (p.Tyr104Phe)
|
rs1727464670
|
|
|
NM_001122752.2(SERPINI1):c.312T>C (p.Tyr104=)
|
|
|
|
NM_001122752.2(SERPINI1):c.313G>A (p.Val105Met)
|
|
|
|
NM_001122752.2(SERPINI1):c.316A>G (p.Met106Val)
|
rs1727465258
|
|
|
NM_001122752.2(SERPINI1):c.31G>A (p.Val11Ile)
|
rs2108556179
|
|
|
NM_001122752.2(SERPINI1):c.32T>C (p.Val11Ala)
|
|
|
|
NM_001122752.2(SERPINI1):c.336G>C (p.Leu112Phe)
|
rs2108557115
|
|
|
NM_001122752.2(SERPINI1):c.340G>T (p.Val114Leu)
|
rs61735308
|
|
|
NM_001122752.2(SERPINI1):c.350G>A (p.Gly117Glu)
|
rs1727467568
|
|
|
NM_001122752.2(SERPINI1):c.352T>C (p.Phe118Leu)
|
|
|
|
NM_001122752.2(SERPINI1):c.360C>T (p.Val120=)
|
|
|
|
NM_001122752.2(SERPINI1):c.364G>A (p.Glu122Lys)
|
|
|
|
NM_001122752.2(SERPINI1):c.372T>C (p.Phe124=)
|
rs2108557153
|
|
|
NM_001122752.2(SERPINI1):c.381G>A (p.Met127Ile)
|
|
|
|
NM_001122752.2(SERPINI1):c.38A>G (p.Gln13Arg)
|
|
|
|
NM_001122752.2(SERPINI1):c.402A>G (p.Ala134=)
|
rs2108557185
|
|
|
NM_001122752.2(SERPINI1):c.410A>G (p.Asn137Ser)
|
rs886058168
|
|
|
NM_001122752.2(SERPINI1):c.41G>A (p.Ser14Asn)
|
|
|
|
NM_001122752.2(SERPINI1):c.425_428del (p.Ser142fs)
|
|
|
|
NM_001122752.2(SERPINI1):c.427C>T (p.Gln143Ter)
|
|
|
|
NM_001122752.2(SERPINI1):c.43A>G (p.Met15Val)
|
rs1727411590
|
|
|
NM_001122752.2(SERPINI1):c.441G>T (p.Val147=)
|
rs1577419314
|
|
|
NM_001122752.2(SERPINI1):c.446A>C (p.Asn149Thr)
|
|
|
|
NM_001122752.2(SERPINI1):c.449A>T (p.Tyr150Phe)
|
rs567043099
|
|
|
NM_001122752.2(SERPINI1):c.453C>A (p.Ile151=)
|
|
|
|
NM_001122752.2(SERPINI1):c.456T>G (p.Asn152Lys)
|
rs759200368
|
|
|
NM_001122752.2(SERPINI1):c.462G>A (p.Trp154Ter)
|
rs1727473660
|
|
|
NM_001122752.2(SERPINI1):c.467A>T (p.Glu156Val)
|
rs2108557247
|
|
|
NM_001122752.2(SERPINI1):c.474C>A (p.Asn158Lys)
|
|
|
|
NM_001122752.2(SERPINI1):c.47C>T (p.Ala16Val)
|
rs1329426448
|
|
|
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.482-10dup
|
rs772199277
|
|
|
NM_001122752.2(SERPINI1):c.482A>T (p.Asn161Ile)
|
rs1553774731
|
|
|
NM_001122752.2(SERPINI1):c.487G>A (p.Val163Met)
|
|
|
|
NM_001122752.2(SERPINI1):c.493G>A (p.Asp165Asn)
|
rs1453020878
|
|
|
NM_001122752.2(SERPINI1):c.496T>C (p.Leu166=)
|
rs1727566141
|
|
|
NM_001122752.2(SERPINI1):c.4G>T (p.Ala2Ser)
|
rs1727409437
|
|
|
NM_001122752.2(SERPINI1):c.502T>A (p.Ser168Thr)
|
|
|
|
NM_001122752.2(SERPINI1):c.521C>T (p.Ala174Val)
|
rs1307589619
|
|
|
NM_001122752.2(SERPINI1):c.524C>T (p.Ala175Val)
|
rs1727567949
|
|
|
NM_001122752.2(SERPINI1):c.530A>C (p.Tyr177Ser)
|
|
|
|
NM_001122752.2(SERPINI1):c.53G>C (p.Gly18Ala)
|
rs577994777
|
|
|
NM_001122752.2(SERPINI1):c.543T>G (p.Ile181Met)
|
|
|
|
NM_001122752.2(SERPINI1):c.547G>A (p.Ala183Thr)
|
|
|
|
NM_001122752.2(SERPINI1):c.54G>A (p.Gly18=)
|
|
|
|
NM_001122752.2(SERPINI1):c.552C>A (p.Val184=)
|
rs1577420587
|
|
|
NM_001122752.2(SERPINI1):c.554A>G (p.Tyr185Cys)
|
|
|
|
NM_001122752.2(SERPINI1):c.55G>A (p.Ala19Thr)
|
rs1344969234
|
|
|
NM_001122752.2(SERPINI1):c.566A>G (p.Asn189Ser)
|
rs566381455
|
|
|
NM_001122752.2(SERPINI1):c.56C>T (p.Ala19Val)
|
|
|
|
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.586C>T (p.Pro196Ser)
|
rs1443427135
|
|
|
NM_001122752.2(SERPINI1):c.58A>G (p.Thr20Ala)
|
|
|
|
NM_001122752.2(SERPINI1):c.5C>T (p.Ala2Val)
|
|
|
|
NM_001122752.2(SERPINI1):c.602C>G (p.Thr201Ser)
|
rs778816229
|
|
|
NM_001122752.2(SERPINI1):c.60T>C (p.Thr20=)
|
|
|
|
NM_001122752.2(SERPINI1):c.629G>A (p.Ser210Asn)
|
|
|
|
NM_001122752.2(SERPINI1):c.629G>T (p.Ser210Ile)
|
rs1296179457
|
|
|
NM_001122752.2(SERPINI1):c.62_66dup (p.Glu23fs)
|
rs1727413504
|
|
|
NM_001122752.2(SERPINI1):c.646A>G (p.Met216Val)
|
|
|
|
NM_001122752.2(SERPINI1):c.648G>A (p.Met216Ile)
|
|
|
|
NM_001122752.2(SERPINI1):c.654T>C (p.Tyr218=)
|
|
|
|
NM_001122752.2(SERPINI1):c.663A>C (p.Gly221=)
|
|
|
|
NM_001122752.2(SERPINI1):c.664G>A (p.Glu222Lys)
|
|
|
|
NM_001122752.2(SERPINI1):c.674A>G (p.Tyr225Cys)
|
rs1727575153
|
|
|
NM_001122752.2(SERPINI1):c.676+10T>C
|
|
|
|
NM_001122752.2(SERPINI1):c.676+14dup
|
|
|
|
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.69G>C (p.Glu23Asp)
|
|
|
|
NM_001122752.2(SERPINI1):c.700G>C (p.Glu234Gln)
|
|
|
|
NM_001122752.2(SERPINI1):c.726A>G (p.Leu242=)
|
|
|
|
NM_001122752.2(SERPINI1):c.731T>C (p.Ile244Thr)
|
rs2108559866
|
|
|
NM_001122752.2(SERPINI1):c.748G>A (p.Glu250Lys)
|
|
|
|
NM_001122752.2(SERPINI1):c.74C>T (p.Ala25Val)
|
|
|
|
NM_001122752.2(SERPINI1):c.751A>G (p.Ile251Val)
|
rs1553774954
|
|
|
NM_001122752.2(SERPINI1):c.754A>G (p.Ser252Gly)
|
|
|
|
NM_001122752.2(SERPINI1):c.760A>C (p.Met254Leu)
|
rs1553774956
|
|
|
NM_001122752.2(SERPINI1):c.770T>C (p.Leu257Pro)
|
rs1466251791
|
|
|
NM_001122752.2(SERPINI1):c.777A>G (p.Arg259=)
|
|
|
|
NM_001122752.2(SERPINI1):c.787C>T (p.Pro263Ser)
|
rs2108559919
|
|
|
NM_001122752.2(SERPINI1):c.788C>T (p.Pro263Leu)
|
|
|
|
NM_001122752.2(SERPINI1):c.799C>G (p.Leu267Val)
|
|
|
|
NM_001122752.2(SERPINI1):c.809_835dup (p.Glu278_Trp279insLeuValLysAlaGlnLeuValGluGlu)
|
|
|
|
NM_001122752.2(SERPINI1):c.818C>T (p.Ala273Val)
|
rs2108559943
|
|
|
NM_001122752.2(SERPINI1):c.829G>A (p.Glu277Lys)
|
rs2108559953
|
|
|
NM_001122752.2(SERPINI1):c.838G>T (p.Ala280Ser)
|
|
|
|
NM_001122752.2(SERPINI1):c.843C>G (p.Asn281Lys)
|
rs1553774967
|
|
|
NM_001122752.2(SERPINI1):c.844T>G (p.Ser282Ala)
|
|
|
|
NM_001122752.2(SERPINI1):c.846T>C (p.Ser282=)
|
|
|
|
NM_001122752.2(SERPINI1):c.84C>T (p.Asp28=)
|
rs2108556255
|
|
|
NM_001122752.2(SERPINI1):c.853A>C (p.Lys285Gln)
|
|
|
|
NM_001122752.2(SERPINI1):c.854A>G (p.Lys285Arg)
|
rs772141992
|
|
|
NM_001122752.2(SERPINI1):c.860A>T (p.Lys287Ile)
|
|
|
|
NM_001122752.2(SERPINI1):c.863T>C (p.Val288Ala)
|
|
|
|
NM_001122752.2(SERPINI1):c.867A>G (p.Glu289=)
|
|
|
|
NM_001122752.2(SERPINI1):c.874C>A (p.Leu292Met)
|
|
|
|
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.882-3C>T
|
|
|
|
NM_001122752.2(SERPINI1):c.892G>A (p.Glu298Lys)
|
rs2108567236
|
|
|
NM_001122752.2(SERPINI1):c.892G>C (p.Glu298Gln)
|
|
|
|
NM_001122752.2(SERPINI1):c.898G>A (p.Glu300Lys)
|
rs1711680491
|
|
|
NM_001122752.2(SERPINI1):c.904G>A (p.Asp302Asn)
|
rs2108567247
|
|
|
NM_001122752.2(SERPINI1):c.910A>G (p.Lys304Glu)
|
|
|
|
NM_001122752.2(SERPINI1):c.914A>C (p.Asp305Ala)
|
rs756818970
|
|
|
NM_001122752.2(SERPINI1):c.929T>G (p.Leu310Arg)
|
|
|
|
NM_001122752.2(SERPINI1):c.949A>G (p.Ile317Val)
|
|
|
|
NM_001122752.2(SERPINI1):c.957T>C (p.Asp319=)
|
rs1711682457
|
|
|
NM_001122752.2(SERPINI1):c.959C>G (p.Ala320Gly)
|
rs886058169
|
|
|
NM_001122752.2(SERPINI1):c.95A>G (p.Asn32Ser)
|
rs1172732406
|
|
|
NM_001122752.2(SERPINI1):c.963T>A (p.Asn321Lys)
|
rs1711682663
|
|
|
NM_001122752.2(SERPINI1):c.971G>T (p.Gly324Val)
|
|
|
|
NM_001122752.2(SERPINI1):c.972C>A (p.Gly324=)
|
rs554583291
|
|
|
NM_001122752.2(SERPINI1):c.974T>G (p.Leu325Arg)
|
|
|
|
NM_001122752.2(SERPINI1):c.975C>G (p.Leu325=)
|
rs2108567299
|
|
|
NM_001122752.2(SERPINI1):c.976_977delinsCT (p.Ser326Leu)
|
rs2108567301
|
|
|
NM_001122752.2(SERPINI1):c.979+17A>C
|
|
|
|
NM_001122752.2(SERPINI1):c.979+19T>C
|
|
|
|
NM_001122752.2(SERPINI1):c.979+4A>C
|
|
|
|
NM_001122752.2(SERPINI1):c.980-9T>C
|
|
|
|
NM_001122752.2(SERPINI1):c.982A>C (p.Asn328His)
|
|
|
|
NM_001122752.2(SERPINI1):c.982A>G (p.Asn328Asp)
|
|
|
|
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_001127644.2(GABRA1):c.268G>A (p.Asp90Asn)
|
rs796052488
|
|
|
NM_001127644.2(GABRA1):c.897T>G (p.Ser299Arg)
|
rs1581220163
|
|
|
NM_001130438.3(SPTAN1):c.4852G>A (p.Gly1618Ser)
|
rs1554759745
|
|
|
NM_001130438.3(SPTAN1):c.6854A>G (p.Asn2285Ser)
|
rs1441152520
|
|
|
NM_001134407.3(GRIN2A):c.*1002C>T
|
rs144997779
|
|
|
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.*3753C>G
|
rs78426284
|
|
|
NM_001134407.3(GRIN2A):c.*3982C>T
|
rs1900476940
|
|
|
NM_001134407.3(GRIN2A):c.*4097G>A
|
rs1900471744
|
|
|
NM_001134407.3(GRIN2A):c.*4304T>C
|
rs79079877
|
|
|
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.*5365G>A
|
rs554155423
|
|
|
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.*6085G>A
|
|
|
|
NM_001134407.3(GRIN2A):c.*6180G>A
|
rs961703607
|
|
|
NM_001134407.3(GRIN2A):c.*6384G>T
|
rs13339551
|
|
|
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.*7112A>T
|
rs143274147
|
|
|
NM_001134407.3(GRIN2A):c.*7278G>T
|
rs886052524
|
|
|
NM_001134407.3(GRIN2A):c.*7293del
|
rs58903398
|
|
|
NM_001134407.3(GRIN2A):c.*7324G>A
|
rs16966244
|
|
|
NM_001134407.3(GRIN2A):c.*7324G>C
|
rs16966244
|
|
|
NM_001134407.3(GRIN2A):c.*7379A>G
|
rs886052522
|
|
|
NM_001134407.3(GRIN2A):c.*7650_*7654del
|
rs537062402
|
|
|
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.*8714T>C
|
rs571467101
|
|
|
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.*9325G>C
|
rs117836220
|
|
|
NM_001134407.3(GRIN2A):c.*9392T>C
|
rs970217798
|
|
|
NM_001134407.3(GRIN2A):c.*983T>C
|
rs545042349
|
|
|
NM_001134407.3(GRIN2A):c.-34C>G
|
rs564039694
|
|
|
NM_001134407.3(GRIN2A):c.-66C>A
|
rs956482196
|
|
|
NM_001134407.3(GRIN2A):c.1001T>A (p.Leu334Ter)
|
rs1555455521
|
|
|
NM_001134407.3(GRIN2A):c.1006C>A (p.Pro336Thr)
|
|
|
|
NM_001134407.3(GRIN2A):c.1007+12C>A
|
|
|
|
NM_001134407.3(GRIN2A):c.1007+17T>C
|
|
|
|
NM_001134407.3(GRIN2A):c.1007+1G>A
|
rs397518465
|
|
|
NM_001134407.3(GRIN2A):c.1007+1G>T
|
rs397518465
|
|
|
NM_001134407.3(GRIN2A):c.1007+5923G>C
|
rs2141611422
|
|
|
NM_001134407.3(GRIN2A):c.1007+8A>G
|
rs2141629108
|
|
|
NM_001134407.3(GRIN2A):c.1008-14C>T
|
rs776960433
|
|
|
NM_001134407.3(GRIN2A):c.1008-2A>G
|
rs2043686667
|
|
|
NM_001134407.3(GRIN2A):c.1008-3T>C
|
|
|
|
NM_001134407.3(GRIN2A):c.1008-6T>G
|
|
|
|
NM_001134407.3(GRIN2A):c.1008-8C>T
|
|
|
|
NM_001134407.3(GRIN2A):c.1012A>G (p.Met338Val)
|
rs1453013171
|
|
|
NM_001134407.3(GRIN2A):c.1013T>A (p.Met338Lys)
|
rs2043686499
|
|
|
NM_001134407.3(GRIN2A):c.1025C>A (p.Thr342Lys)
|
|
|
|
NM_001134407.3(GRIN2A):c.1028G>T (p.Trp343Leu)
|
rs1231057100
|
|
|
NM_001134407.3(GRIN2A):c.1035C>T (p.Gly345=)
|
|
|
|
NM_001134407.3(GRIN2A):c.1036A>T (p.Lys346Ter)
|
rs2141482042
|
|
|
NM_001134407.3(GRIN2A):c.1041C>T (p.Asp347=)
|
rs1390365288
|
|
|
NM_001134407.3(GRIN2A):c.1044A>G (p.Leu348=)
|
|
|
|
NM_001134407.3(GRIN2A):c.1045_1051del (p.Ser349fs)
|
|
|
|
NM_001134407.3(GRIN2A):c.1047C>T (p.Ser349=)
|
|
|
|
NM_001134407.3(GRIN2A):c.1054del (p.Glu352fs)
|
rs2043685576
|
|
|
NM_001134407.3(GRIN2A):c.1061G>A (p.Gly354Asp)
|
|
|
|
NM_001134407.3(GRIN2A):c.1069G>T (p.Val357Leu)
|
rs78929970
|
|
|
NM_001134407.3(GRIN2A):c.106A>G (p.Ile36Val)
|
|
|
|
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.1079G>C (p.Arg360Thr)
|
|
|
|
NM_001134407.3(GRIN2A):c.1081C>T (p.Leu361=)
|
rs267604690
|
|
|
NM_001134407.3(GRIN2A):c.1083G>A (p.Leu361=)
|
|
|
|
NM_001134407.3(GRIN2A):c.1084G>A (p.Val362Met)
|
|
|
|
NM_001134407.3(GRIN2A):c.1087G>A (p.Val363Met)
|
|
|
|
NM_001134407.3(GRIN2A):c.1087G>T (p.Val363Leu)
|
rs2043684301
|
|
|
NM_001134407.3(GRIN2A):c.1088T>G (p.Val363Gly)
|
|
|
|
NM_001134407.3(GRIN2A):c.108T>A (p.Ile36=)
|
|
|
|
NM_001134407.3(GRIN2A):c.1108C>T (p.Arg370Trp)
|
|
|
|
NM_001134407.3(GRIN2A):c.1109G>A (p.Arg370Gln)
|
rs2043683703
|
|
|
NM_001134407.3(GRIN2A):c.1115G>A (p.Trp372Ter)
|
rs1555501093
|
|
|
NM_001134407.3(GRIN2A):c.1123-19C>T
|
|
|
|
NM_001134407.3(GRIN2A):c.1123-1G>A
|
rs2042854251
|
|
|
NM_001134407.3(GRIN2A):c.1123-1G>T
|
rs2042854251
|
|
|
NM_001134407.3(GRIN2A):c.1123-2A>G
|
rs397518469
|
|
|
NM_001134407.3(GRIN2A):c.1123-2A>T
|
|
|
|
NM_001134407.3(GRIN2A):c.1125G>C (p.Val375=)
|
rs2141370109
|
|
|
NM_001134407.3(GRIN2A):c.1128C>T (p.Gly376=)
|
rs2042854084
|
|
|
NM_001134407.3(GRIN2A):c.1131G>A (p.Lys377=)
|
rs1465011695
|
|
|
NM_001134407.3(GRIN2A):c.1134G>A (p.Trp378Ter)
|
rs1555496202
|
|
|
NM_001134407.3(GRIN2A):c.1141C>A (p.His381Asn)
|
|
|
|
NM_001134407.3(GRIN2A):c.1145C>G (p.Thr382Arg)
|
|
|
|
NM_001134407.3(GRIN2A):c.1145C>T (p.Thr382Met)
|
|
|
|
NM_001134407.3(GRIN2A):c.1149G>A (p.Leu383=)
|
rs1219972496
|
|
|
NM_001134407.3(GRIN2A):c.1152C>G (p.Ser384Arg)
|
|
|
|
NM_001134407.3(GRIN2A):c.1155G>A (p.Leu385=)
|
rs139119497
|
|
|
NM_001134407.3(GRIN2A):c.115A>T (p.Met39Leu)
|
rs2142390680
|
|
|
NM_001134407.3(GRIN2A):c.1170G>T (p.Trp390Cys)
|
rs1555496181
|
|
|
NM_001134407.3(GRIN2A):c.1194del (p.Cys399fs)
|
rs2141369731
|
|
|
NM_001134407.3(GRIN2A):c.11T>C (p.Val4Ala)
|
rs1596587600
|
|
|
NM_001134407.3(GRIN2A):c.1200G>A (p.Glu400=)
|
|
|
|
NM_001134407.3(GRIN2A):c.1203G>T (p.Pro401=)
|
|
|
|
NM_001134407.3(GRIN2A):c.1204del (p.Asp402fs)
|
rs2042851617
|
|
|
NM_001134407.3(GRIN2A):c.1206T>G (p.Asp402Glu)
|
rs2042851567
|
|
|
NM_001134407.3(GRIN2A):c.120G>T (p.Leu40=)
|
rs2050239024
|
|
|
NM_001134407.3(GRIN2A):c.1213C>T (p.His405Tyr)
|
|
|
|
NM_001134407.3(GRIN2A):c.1222A>T (p.Ile408Phe)
|
|
|
|
NM_001134407.3(GRIN2A):c.1232T>A (p.Leu411Gln)
|
rs2141369514
|
|
|
NM_001134407.3(GRIN2A):c.123T>C (p.Gly41=)
|
|
|
|
NM_001134407.3(GRIN2A):c.1242C>A (p.Ala414=)
|
|
|
|
NM_001134407.3(GRIN2A):c.1244dup (p.Phe416fs)
|
rs2042850660
|
|
|
NM_001134407.3(GRIN2A):c.1251C>A (p.Val417=)
|
rs139329447
|
|
|
NM_001134407.3(GRIN2A):c.1254C>A (p.Ile418=)
|
|
|
|
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.1264_1308delinsGTCAAAGTTCCGTGGAAA (p.Ile422_Cys436delinsValLysValProTrpLys)
|
rs1596494678
|
|
|
NM_001134407.3(GRIN2A):c.1265T>G (p.Ile422Arg)
|
|
|
|
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.1273del (p.Pro424_Leu425insTer)
|
rs879253760
|
|
|
NM_001134407.3(GRIN2A):c.1279G>A (p.Glu427Lys)
|
|
|
|
NM_001134407.3(GRIN2A):c.1281G>C (p.Glu427Asp)
|
|
|
|
NM_001134407.3(GRIN2A):c.1285T>C (p.Cys429Arg)
|
|
|
|
NM_001134407.3(GRIN2A):c.1289_1292dup (p.Arg431fs)
|
|
|
|
NM_001134407.3(GRIN2A):c.1293G>C (p.Arg431Ser)
|
rs771768582
|
|
|
NM_001134407.3(GRIN2A):c.1296C>T (p.Asn432=)
|
|
|
|
NM_001134407.3(GRIN2A):c.1300G>A (p.Val434Met)
|
rs2141369176
|
|
|
NM_001134407.3(GRIN2A):c.1305A>C (p.Pro435=)
|
rs1555496114
|
|
|
NM_001134407.3(GRIN2A):c.1306T>C (p.Cys436Arg)
|
rs1555496111
|
|
|
NM_001134407.3(GRIN2A):c.1308T>C (p.Cys436=)
|
|
|
|
NM_001134407.3(GRIN2A):c.1309C>G (p.Arg437Gly)
|
|
|
|
NM_001134407.3(GRIN2A):c.1310G>T (p.Arg437Leu)
|
|
|
|
NM_001134407.3(GRIN2A):c.1313A>G (p.Lys438Arg)
|
rs2042848665
|
|
|
NM_001134407.3(GRIN2A):c.1317C>G (p.Phe439Leu)
|
rs752012396
|
|
|
NM_001134407.3(GRIN2A):c.1317C>T (p.Phe439=)
|
|
|
|
NM_001134407.3(GRIN2A):c.1322A>C (p.Lys441Thr)
|
|
|
|
NM_001134407.3(GRIN2A):c.1323A>C (p.Lys441Asn)
|
rs903996899
|
|
|
NM_001134407.3(GRIN2A):c.1326C>G (p.Ile442Met)
|
rs2042847762
|
|
|
NM_001134407.3(GRIN2A):c.1328+11G>A
|
|
|
|
NM_001134407.3(GRIN2A):c.1328+13A>G
|
|
|
|
NM_001134407.3(GRIN2A):c.1328+2T>C
|
rs2042847630
|
|
|
NM_001134407.3(GRIN2A):c.1328+3G>A
|
|
|
|
NM_001134407.3(GRIN2A):c.1328+3G>C
|
rs2042847551
|
|
|
NM_001134407.3(GRIN2A):c.1328+5G>A
|
rs1596494606
|
|
|
NM_001134407.3(GRIN2A):c.1328A>G (p.Asn443Ser)
|
rs1596494610
|
|
|
NM_001134407.3(GRIN2A):c.1329-1G>C
|
|
|
|
NM_001134407.3(GRIN2A):c.1329-1G>T
|
|
|
|
NM_001134407.3(GRIN2A):c.1329-20C>G
|
|
|
|
NM_001134407.3(GRIN2A):c.1329-2A>C
|
rs2141346217
|
|
|
NM_001134407.3(GRIN2A):c.1329-5T>C
|
rs2141346229
|
|
|
NM_001134407.3(GRIN2A):c.1329-7dup
|
rs1455515948
|
|
|
NM_001134407.3(GRIN2A):c.1329C>T (p.Asn443=)
|
rs779642527
|
|
|
NM_001134407.3(GRIN2A):c.1334C>A (p.Ser445Ter)
|
|
|
|
NM_001134407.3(GRIN2A):c.1340A>C (p.Asn447Thr)
|
rs367543145
|
|
|
NM_001134407.3(GRIN2A):c.1342G>A (p.Glu448Lys)
|
rs368026708
|
|
|
NM_001134407.3(GRIN2A):c.1344_1345insCCTAG (p.Gly449fs)
|
rs2141346061
|
|
|
NM_001134407.3(GRIN2A):c.1351A>T (p.Asn451Tyr)
|
rs2141345962
|
|
|
NM_001134407.3(GRIN2A):c.1352A>G (p.Asn451Ser)
|
|
|
|
NM_001134407.3(GRIN2A):c.1362del (p.Lys454fs)
|
|
|
|
NM_001134407.3(GRIN2A):c.1364G>C (p.Cys455Ser)
|
|
|
|
NM_001134407.3(GRIN2A):c.1367G>T (p.Cys456Phe)
|
rs2141345759
|
|
|
NM_001134407.3(GRIN2A):c.1373G>A (p.Gly458Glu)
|
|
|
|
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.137T>A (p.Val46Glu)
|
rs2050238313
|
|
|
NM_001134407.3(GRIN2A):c.1382T>A (p.Ile461Asn)
|
rs1567337914
|
|
|
NM_001134407.3(GRIN2A):c.1382T>C (p.Ile461Thr)
|
rs1567337914
|
|
|
NM_001134407.3(GRIN2A):c.1386T>C (p.Asp462=)
|
|
|
|
NM_001134407.3(GRIN2A):c.1400T>A (p.Leu467His)
|
rs2042668320
|
|
|
NM_001134407.3(GRIN2A):c.1409C>G (p.Thr470Ser)
|
rs752320310
|
|
|
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.1418T>C (p.Phe473Ser)
|
rs2042667786
|
|
|
NM_001134407.3(GRIN2A):c.1418T>G (p.Phe473Cys)
|
rs2042667786
|
|
|
NM_001134407.3(GRIN2A):c.1422T>G (p.Thr474=)
|
rs905817094
|
|
|
NM_001134407.3(GRIN2A):c.1425C>G (p.Tyr475Ter)
|
rs774228933
|
|
|
NM_001134407.3(GRIN2A):c.1426G>A (p.Asp476Asn)
|
|
|
|
NM_001134407.3(GRIN2A):c.1428C>T (p.Asp476=)
|
rs762674544
|
|
|
NM_001134407.3(GRIN2A):c.1429C>G (p.Leu477Val)
|
rs1285260219
|
|
|
NM_001134407.3(GRIN2A):c.1430T>C (p.Leu477Pro)
|
|
|
|
NM_001134407.3(GRIN2A):c.1431C>G (p.Leu477=)
|
rs772869148
|
|
|
NM_001134407.3(GRIN2A):c.1432T>C (p.Tyr478His)
|
|
|
|
NM_001134407.3(GRIN2A):c.1433A>G (p.Tyr478Cys)
|
rs2042667439
|
|
|
NM_001134407.3(GRIN2A):c.1442C>T (p.Thr481Ile)
|
|
|
|
NM_001134407.3(GRIN2A):c.1446T>C (p.Asn482=)
|
|
|
|
NM_001134407.3(GRIN2A):c.1447G>A (p.Gly483Arg)
|
rs2042667149
|
|
|
NM_001134407.3(GRIN2A):c.144G>A (p.Glu48=)
|
rs1334555320
|
|
|
NM_001134407.3(GRIN2A):c.1454A>G (p.His485Arg)
|
rs2141345000
|
|
|
NM_001134407.3(GRIN2A):c.1457G>T (p.Gly486Val)
|
rs2141344962
|
|
|
NM_001134407.3(GRIN2A):c.1471A>C (p.Asn491His)
|
|
|
|
NM_001134407.3(GRIN2A):c.1475_1478del (p.Val492fs)
|
|
|
|
NM_001134407.3(GRIN2A):c.1483G>A (p.Gly495Arg)
|
|
|
|
NM_001134407.3(GRIN2A):c.1489A>T (p.Ile497Phe)
|
rs1596483730
|
|
|
NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser)
|
rs757713617
|
|
|
NM_001134407.3(GRIN2A):c.1493G>A (p.Gly498Asp)
|
rs749732928
|
|
|
NM_001134407.3(GRIN2A):c.1497+19C>T
|
rs1432754649
|
|
|
NM_001134407.3(GRIN2A):c.1497+1G>C
|
rs2141344569
|
|
|
NM_001134407.3(GRIN2A):c.1497+1G>T
|
rs2141344569
|
|
|
NM_001134407.3(GRIN2A):c.1497+2T>C
|
rs2042665950
|
|
|
NM_001134407.3(GRIN2A):c.1497+5G>C
|
rs2042665872
|
|
|
NM_001134407.3(GRIN2A):c.1497+6T>C
|
|
|
|
NM_001134407.3(GRIN2A):c.1498-14_1498-13del
|
rs1491547779
|
|
|
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.1500G>A (p.Val500=)
|
|
|
|
NM_001134407.3(GRIN2A):c.1516G>A (p.Val506Ile)
|
rs368188808
|
|
|
NM_001134407.3(GRIN2A):c.1520T>C (p.Met507Thr)
|
|
|
|
NM_001134407.3(GRIN2A):c.1528G>T (p.Gly510Cys)
|
|
|
|
NM_001134407.3(GRIN2A):c.1529dup (p.Ser511fs)
|
|
|
|
NM_001134407.3(GRIN2A):c.1532C>T (p.Ser511Leu)
|
rs267604688
|
|
|
NM_001134407.3(GRIN2A):c.1538C>T (p.Thr513Ile)
|
rs1064796950
|
|
|
NM_001134407.3(GRIN2A):c.1544A>G (p.Asn515Ser)
|
rs2141343041
|
|
|
NM_001134407.3(GRIN2A):c.1548G>A (p.Glu516=)
|
|
|
|
NM_001134407.3(GRIN2A):c.1549G>A (p.Glu517Lys)
|
rs1555494686
|
|
|
NM_001134407.3(GRIN2A):c.1549G>T (p.Glu517Ter)
|
rs1555494686
|
|
|
NM_001134407.3(GRIN2A):c.1551A>C (p.Glu517Asp)
|
rs2042659440
|
|
|
NM_001134407.3(GRIN2A):c.1552C>T (p.Arg518Cys)
|
rs747838255
|
|
|
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His)
|
rs397518470
|
|
|
NM_001134407.3(GRIN2A):c.1553G>T (p.Arg518Leu)
|
rs397518470
|
|
|
NM_001134407.3(GRIN2A):c.1557T>G (p.Ser519=)
|
|
|
|
NM_001134407.3(GRIN2A):c.1565T>C (p.Val522Ala)
|
|
|
|
NM_001134407.3(GRIN2A):c.1579C>A (p.Pro527Thr)
|
|
|
|
NM_001134407.3(GRIN2A):c.1585del (p.Val529fs)
|
rs2141342590
|
|
|
NM_001134407.3(GRIN2A):c.1586del (p.Val529fs)
|
rs2141342580
|
|
|
NM_001134407.3(GRIN2A):c.1592C>T (p.Thr531Met)
|
rs397518468
|
|
|
NM_001134407.3(GRIN2A):c.1595G>A (p.Gly532Glu)
|
|
|
|
NM_001134407.3(GRIN2A):c.1595G>T (p.Gly532Val)
|
rs1085307961
|
|
|
NM_001134407.3(GRIN2A):c.1596A>G (p.Gly532=)
|
|
|
|
NM_001134407.3(GRIN2A):c.1602T>C (p.Ser534=)
|
rs2141342406
|
|
|
NM_001134407.3(GRIN2A):c.1609G>T (p.Val537Phe)
|
|
|
|
NM_001134407.3(GRIN2A):c.1613C>G (p.Ser538Ter)
|
rs2141342254
|
|
|
NM_001134407.3(GRIN2A):c.1618A>G (p.Ser540Gly)
|
rs2141342201
|
|
|
NM_001134407.3(GRIN2A):c.1630G>A (p.Val544Ile)
|
rs2141342055
|
|
|
NM_001134407.3(GRIN2A):c.1639T>C (p.Ser547Pro)
|
|
|
|
NM_001134407.3(GRIN2A):c.1639_1641del (p.Ser547del)
|
rs1555494676
|
|
|
NM_001134407.3(GRIN2A):c.1642G>A (p.Ala548Thr)
|
rs1057523843
|
|
|
NM_001134407.3(GRIN2A):c.1642G>C (p.Ala548Pro)
|
rs1057523843
|
|
|
NM_001134407.3(GRIN2A):c.1648del (p.Phe549_Leu550insTer)
|
rs1596483044
|
|
|
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+1del
|
rs2141341804
|
|
|
NM_001134407.3(GRIN2A):c.1651+2T>A
|
rs2141341781
|
|
|
NM_001134407.3(GRIN2A):c.1651+3G>A
|
|
|
|
NM_001134407.3(GRIN2A):c.1651G>T (p.Glu551Ter)
|
|
|
|
NM_001134407.3(GRIN2A):c.1652-2A>G
|
rs2141325752
|
|
|
NM_001134407.3(GRIN2A):c.1655C>G (p.Pro552Arg)
|
rs397518450
|
|
|
NM_001134407.3(GRIN2A):c.165G>A (p.Trp55Ter)
|
rs1057521810
|
|
|
NM_001134407.3(GRIN2A):c.1661G>C (p.Ser554Thr)
|
|
|
|
NM_001134407.3(GRIN2A):c.1662C>A (p.Ser554Arg)
|
rs1596476657
|
|
|
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.1673G>C (p.Trp558Ser)
|
rs1555493585
|
|
|
NM_001134407.3(GRIN2A):c.1677G>A (p.Val559=)
|
rs2141325632
|
|
|
NM_001134407.3(GRIN2A):c.1678ATG[1] (p.Met561del)
|
rs1057519248
|
|
|
NM_001134407.3(GRIN2A):c.1686del (p.Phe562fs)
|
rs2141325598
|
|
|
NM_001134407.3(GRIN2A):c.168C>G (p.Gly56=)
|
rs748684701
|
|
|
NM_001134407.3(GRIN2A):c.1691T>G (p.Met564Arg)
|
rs2141325573
|
|
|
NM_001134407.3(GRIN2A):c.1692del (p.Met564fs)
|
rs886039604
|
|
|
NM_001134407.3(GRIN2A):c.1699A>G (p.Ile567Val)
|
|
|
|
NM_001134407.3(GRIN2A):c.1702del (p.Val568fs)
|
rs2141325493
|
|
|
NM_001134407.3(GRIN2A):c.1715C>T (p.Ala572Val)
|
rs2141325435
|
|
|
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.172G>T (p.Glu58Ter)
|
rs143833346
|
|
|
NM_001134407.3(GRIN2A):c.1734C>G (p.Tyr578Ter)
|
rs1060503228
|
|
|
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.1747G>T (p.Gly583Ter)
|
|
|
|
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.1751A>G (p.Tyr584Cys)
|
rs1596476519
|
|
|
NM_001134407.3(GRIN2A):c.1752C>T (p.Tyr584=)
|
|
|
|
NM_001134407.3(GRIN2A):c.176_179dup (p.Ala61fs)
|
rs2050235998
|
|
|
NM_001134407.3(GRIN2A):c.1777+19G>C
|
|
|
|
NM_001134407.3(GRIN2A):c.1777+1G>C
|
rs2141325180
|
|
|
NM_001134407.3(GRIN2A):c.1777+2T>C
|
rs2141325169
|
|
|
NM_001134407.3(GRIN2A):c.1777+3A>T
|
rs2141325159
|
|
|
NM_001134407.3(GRIN2A):c.1777+6G>C
|
rs76549675
|
|
|
NM_001134407.3(GRIN2A):c.1777+6G>T
|
rs76549675
|
|
|
NM_001134407.3(GRIN2A):c.1777+7G>A
|
|
|
|
NM_001134407.3(GRIN2A):c.1778-2A>C
|
rs2141313144
|
|
|
NM_001134407.3(GRIN2A):c.1782_1783insTT (p.His595fs)
|
rs2141313067
|
|
|
NM_001134407.3(GRIN2A):c.1784A>G (p.His595Arg)
|
|
|
|
NM_001134407.3(GRIN2A):c.1788_1789insGTG (p.Gly596_Pro597insVal)
|
rs2042451238
|
|
|
NM_001134407.3(GRIN2A):c.1790del (p.Pro597fs)
|
|
|
|
NM_001134407.3(GRIN2A):c.1802T>C (p.Ile601Thr)
|
rs1404462639
|
|
|
NM_001134407.3(GRIN2A):c.1813A>G (p.Ile605Val)
|
|
|
|
NM_001134407.3(GRIN2A):c.1815A>T (p.Ile605=)
|
|
|
|
NM_001134407.3(GRIN2A):c.1818G>A (p.Trp606Ter)
|
rs775819322
|
|
|
NM_001134407.3(GRIN2A):c.1827G>A (p.Trp609Ter)
|
rs1555492790
|
|
|
NM_001134407.3(GRIN2A):c.1831C>A (p.Leu611Met)
|
rs2141312814
|
|
|
NM_001134407.3(GRIN2A):c.1832T>A (p.Leu611Gln)
|
rs2141312803
|
|
|
NM_001134407.3(GRIN2A):c.1833G>C (p.Leu611=)
|
|
|
|
NM_001134407.3(GRIN2A):c.183G>A (p.Ala61=)
|
|
|
|
NM_001134407.3(GRIN2A):c.1841A>G (p.Asn614Ser)
|
rs869312916
|
|
|
NM_001134407.3(GRIN2A):c.1845C>A (p.Asn615Lys)
|
rs397518447
|
|
|
NM_001134407.3(GRIN2A):c.1847C>T (p.Ser616Phe)
|
|
|
|
NM_001134407.3(GRIN2A):c.1849G>A (p.Val617Met)
|
|
|
|
NM_001134407.3(GRIN2A):c.1871_1884del (p.Gly624fs)
|
|
|
|
NM_001134407.3(GRIN2A):c.1877C>A (p.Thr626Asn)
|
rs2141312664
|
|
|
NM_001134407.3(GRIN2A):c.1880G>A (p.Ser627Asn)
|
|
|
|
NM_001134407.3(GRIN2A):c.1893A>G (p.Val631=)
|
|
|
|
NM_001134407.3(GRIN2A):c.18T>C (p.Tyr6=)
|
|
|
|
NM_001134407.3(GRIN2A):c.1901G>A (p.Trp634Ter)
|
rs1555492769
|
|
|
NM_001134407.3(GRIN2A):c.1903G>A (p.Ala635Thr)
|
rs2042449005
|
|
|
NM_001134407.3(GRIN2A):c.1904C>A (p.Ala635Asp)
|
rs2042448930
|
|
|
NM_001134407.3(GRIN2A):c.1908C>G (p.Phe636Leu)
|
|
|
|
NM_001134407.3(GRIN2A):c.190C>T (p.Pro64Ser)
|
rs994256744
|
|
|
NM_001134407.3(GRIN2A):c.1913C>T (p.Ala638Val)
|
rs1567329011
|
|
|
NM_001134407.3(GRIN2A):c.1914T>A (p.Ala638=)
|
|
|
|
NM_001134407.3(GRIN2A):c.1915G>A (p.Val639Ile)
|
rs2141312498
|
|
|
NM_001134407.3(GRIN2A):c.191C>G (p.Pro64Arg)
|
|
|
|
NM_001134407.3(GRIN2A):c.1923C>G (p.Phe641Leu)
|
|
|
|
NM_001134407.3(GRIN2A):c.1924C>A (p.Leu642Met)
|
rs796052562
|
|
|
NM_001134407.3(GRIN2A):c.1929T>C (p.Ala643=)
|
rs2141312447
|
|
|
NM_001134407.3(GRIN2A):c.1930A>G (p.Ser644Gly)
|
rs1555492763
|
|
|
NM_001134407.3(GRIN2A):c.1936A>G (p.Thr646Ala)
|
rs1555492758
|
|
|
NM_001134407.3(GRIN2A):c.1939G>T (p.Ala647Ser)
|
rs2042447850
|
|
|
NM_001134407.3(GRIN2A):c.1940C>G (p.Ala647Gly)
|
|
|
|
NM_001134407.3(GRIN2A):c.1943A>G (p.Asn648Ser)
|
rs796052545
|
|
|
NM_001134407.3(GRIN2A):c.1945C>G (p.Leu649Val)
|
rs397514557
|
|
|
NM_001134407.3(GRIN2A):c.1946_1947delinsCT (p.Leu649Pro)
|
|
|
|
NM_001134407.3(GRIN2A):c.1948G>T (p.Ala650Ser)
|
rs2042447713
|
|
|
NM_001134407.3(GRIN2A):c.1953C>A (p.Ala651=)
|
rs1373636631
|
|
|
NM_001134407.3(GRIN2A):c.1954T>G (p.Phe652Val)
|
rs397518471
|
|
|
NM_001134407.3(GRIN2A):c.1957A>G (p.Met653Val)
|
rs2141312286
|
|
|
NM_001134407.3(GRIN2A):c.1959G>A (p.Met653Ile)
|
rs2141312277
|
|
|
NM_001134407.3(GRIN2A):c.1961T>C (p.Ile654Thr)
|
rs2042447540
|
|
|
NM_001134407.3(GRIN2A):c.1962C>A (p.Ile654=)
|
|
|
|
NM_001134407.3(GRIN2A):c.1970A>C (p.Glu657Ala)
|
rs2042447316
|
|
|
NM_001134407.3(GRIN2A):c.197A>G (p.Asp66Gly)
|
|
|
|
NM_001134407.3(GRIN2A):c.1983A>G (p.Gln661=)
|
rs1327079068
|
|
|
NM_001134407.3(GRIN2A):c.1993C>G (p.Leu665Val)
|
|
|
|
NM_001134407.3(GRIN2A):c.1993C>T (p.Leu665Phe)
|
|
|
|
NM_001134407.3(GRIN2A):c.1999G>A (p.Asp667Asn)
|
|
|
|
NM_001134407.3(GRIN2A):c.199G>A (p.Val67Met)
|
|
|
|
NM_001134407.3(GRIN2A):c.2007+1G>A
|
rs2141312109
|
|
|
NM_001134407.3(GRIN2A):c.2007+1G>T
|
|
|
|
NM_001134407.3(GRIN2A):c.2007+1del
|
rs1596471698
|
|
|
NM_001134407.3(GRIN2A):c.2007+20C>G
|
rs1013909512
|
|
|
NM_001134407.3(GRIN2A):c.2007+2dup
|
rs2141312103
|
|
|
NM_001134407.3(GRIN2A):c.2008-13G>A
|
|
|
|
NM_001134407.3(GRIN2A):c.2008-18T>C
|
rs191897643
|
|
|
NM_001134407.3(GRIN2A):c.2008-1G>A
|
|
|
|
NM_001134407.3(GRIN2A):c.2008-1G>T
|
rs2141295189
|
|
|
NM_001134407.3(GRIN2A):c.2008-20C>T
|
|
|
|
NM_001134407.3(GRIN2A):c.2008-2A>C
|
|
|
|
NM_001134407.3(GRIN2A):c.2008-5T>C
|
|
|
|
NM_001134407.3(GRIN2A):c.2008-6C>G
|
rs2042305474
|
|
|
NM_001134407.3(GRIN2A):c.2014A>G (p.Arg672Gly)
|
rs1555491685
|
|
|
NM_001134407.3(GRIN2A):c.2023_2027del (p.Asp675fs)
|
|
|
|
NM_001134407.3(GRIN2A):c.2027A>C (p.Tyr676Ser)
|
rs2141295127
|
|
|
NM_001134407.3(GRIN2A):c.2041C>T (p.Arg681Ter)
|
rs397518472
|
|
|
NM_001134407.3(GRIN2A):c.2042G>A (p.Arg681Gln)
|
rs753203288
|
|
|
NM_001134407.3(GRIN2A):c.2045T>G (p.Phe682Cys)
|
|
|
|
NM_001134407.3(GRIN2A):c.2047G>C (p.Gly683Arg)
|
|
|
|
NM_001134407.3(GRIN2A):c.2048G>A (p.Gly683Glu)
|
|
|
|
NM_001134407.3(GRIN2A):c.2049G>C (p.Gly683=)
|
rs1057523027
|
|
|
NM_001134407.3(GRIN2A):c.2050A>G (p.Thr684Ala)
|
rs796052547
|
|
|
NM_001134407.3(GRIN2A):c.2063G>A (p.Gly688Glu)
|
|
|
|
NM_001134407.3(GRIN2A):c.2063G>C (p.Gly688Ala)
|
rs2141294973
|
|
|
NM_001134407.3(GRIN2A):c.2066G>A (p.Ser689Asn)
|
rs932803191
|
|
|
NM_001134407.3(GRIN2A):c.2069C>A (p.Thr690Lys)
|
rs1445802934
|
|
|
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met)
|
rs1445802934
|
|
|
NM_001134407.3(GRIN2A):c.2075_2116dup (p.Arg692_Met705dup)
|
rs2141294782
|
|
|
NM_001134407.3(GRIN2A):c.2077A>G (p.Asn693Asp)
|
rs2042303226
|
|
|
NM_001134407.3(GRIN2A):c.2079C>G (p.Asn693Lys)
|
|
|
|
NM_001134407.3(GRIN2A):c.2081T>C (p.Ile694Thr)
|
rs2141294911
|
|
|
NM_001134407.3(GRIN2A):c.2084G>A (p.Arg695Gln)
|
rs1555491654
|
|
|
NM_001134407.3(GRIN2A):c.2085G>A (p.Arg695=)
|
rs9806806
|
|
|
NM_001134407.3(GRIN2A):c.208G>A (p.Val70Ile)
|
rs764026892
|
|
|
NM_001134407.3(GRIN2A):c.2090A>G (p.Asn697Ser)
|
|
|
|
NM_001134407.3(GRIN2A):c.2095C>A (p.Pro699Thr)
|
|
|
|
NM_001134407.3(GRIN2A):c.2095C>G (p.Pro699Ala)
|
|
|
|
NM_001134407.3(GRIN2A):c.2095C>T (p.Pro699Ser)
|
rs1555491648
|
|
|
NM_001134407.3(GRIN2A):c.2102T>G (p.Met701Arg)
|
rs2141294836
|
|
|
NM_001134407.3(GRIN2A):c.2113A>G (p.Met705Val)
|
rs2141294795
|
|
|
NM_001134407.3(GRIN2A):c.2117C>T (p.Thr706Ile)
|
|
|
|
NM_001134407.3(GRIN2A):c.2122T>G (p.Phe708Val)
|
|
|
|
NM_001134407.3(GRIN2A):c.2134G>A (p.Gly712Arg)
|
rs1555491635
|
|
|
NM_001134407.3(GRIN2A):c.2138T>G (p.Val713Gly)
|
rs1057518070
|
|
|
NM_001134407.3(GRIN2A):c.2140del (p.Glu714fs)
|
rs2141294703
|
|
|
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)
|
|
|
|
NM_001134407.3(GRIN2A):c.2147C>A (p.Ala716Asp)
|
rs1057519552
|
|
|
NM_001134407.3(GRIN2A):c.2147C>T (p.Ala716Val)
|
|
|
|
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.2157C>G (p.Ser719Arg)
|
rs1482585408
|
|
|
NM_001134407.3(GRIN2A):c.2166G>A (p.Thr722=)
|
|
|
|
NM_001134407.3(GRIN2A):c.2168+18C>T
|
|
|
|
NM_001134407.3(GRIN2A):c.2168+1G>C
|
rs2141294532
|
|
|
NM_001134407.3(GRIN2A):c.2169-13C>G
|
|
|
|
NM_001134407.3(GRIN2A):c.2169-1G>C
|
rs2141231277
|
|
|
NM_001134407.3(GRIN2A):c.2169-3C>T
|
|
|
|
NM_001134407.3(GRIN2A):c.2174T>C (p.Leu725Pro)
|
rs1903139235
|
|
|
NM_001134407.3(GRIN2A):c.2177A>T (p.Asp726Val)
|
rs2141231223
|
|
|
NM_001134407.3(GRIN2A):c.2178C>T (p.Asp726=)
|
|
|
|
NM_001134407.3(GRIN2A):c.2179G>A (p.Ala727Thr)
|
rs1555488144
|
|
|
NM_001134407.3(GRIN2A):c.217C>A (p.Leu73Met)
|
rs775422876
|
|
|
NM_001134407.3(GRIN2A):c.2184C>G (p.Phe728Leu)
|
rs773358718
|
|
|
NM_001134407.3(GRIN2A):c.2189A>G (p.Tyr730Cys)
|
rs1903138230
|
|
|
NM_001134407.3(GRIN2A):c.2191G>A (p.Asp731Asn)
|
rs796052549
|
|
|
NM_001134407.3(GRIN2A):c.2197G>A (p.Ala733Thr)
|
rs796052550
|
|
|
NM_001134407.3(GRIN2A):c.2197G>T (p.Ala733Ser)
|
rs796052550
|
|
|
NM_001134407.3(GRIN2A):c.2200G>C (p.Val734Leu)
|
rs1439688451
|
|
|
NM_001134407.3(GRIN2A):c.2221A>G (p.Arg741Gly)
|
rs1903135567
|
|
|
NM_001134407.3(GRIN2A):c.2223G>A (p.Arg741=)
|
|
|
|
NM_001134407.3(GRIN2A):c.2224del (p.Asp742fs)
|
|
|
|
NM_001134407.3(GRIN2A):c.2248A>G (p.Ile750Val)
|
|
|
|
NM_001134407.3(GRIN2A):c.2251G>A (p.Gly751Arg)
|
|
|
|
NM_001134407.3(GRIN2A):c.2253dup (p.Ser752fs)
|
rs2141230698
|
|
|
NM_001134407.3(GRIN2A):c.2259G>C (p.Gly753=)
|
rs1282411841
|
|
|
NM_001134407.3(GRIN2A):c.225C>T (p.Asn75=)
|
rs527686036
|
|
|
NM_001134407.3(GRIN2A):c.2263A>G (p.Ile755Val)
|
|
|
|
NM_001134407.3(GRIN2A):c.2278G>A (p.Gly760Ser)
|
rs1555488119
|
|
|
NM_001134407.3(GRIN2A):c.2290G>A (p.Ala764Thr)
|
|
|
|
NM_001134407.3(GRIN2A):c.2314A>G (p.Lys772Glu)
|
rs1555488094
|
|
|
NM_001134407.3(GRIN2A):c.231C>T (p.Thr77=)
|
|
|
|
NM_001134407.3(GRIN2A):c.2320C>A (p.Gln774Lys)
|
rs1555488093
|
|
|
NM_001134407.3(GRIN2A):c.2323A>G (p.Ile775Val)
|
|
|
|
NM_001134407.3(GRIN2A):c.2325C>T (p.Ile775=)
|
rs748291723
|
|
|
NM_001134407.3(GRIN2A):c.2326G>A (p.Asp776Asn)
|
|
|
|
NM_001134407.3(GRIN2A):c.2326G>T (p.Asp776Tyr)
|
rs776791010
|
|
|
NM_001134407.3(GRIN2A):c.2329C>T (p.Leu777=)
|
rs1013991339
|
|
|
NM_001134407.3(GRIN2A):c.2334_2338del (p.Leu779fs)
|
rs2141230279
|
|
|
NM_001134407.3(GRIN2A):c.2335_2336delinsAG (p.Leu779Arg)
|
rs1903126465
|
|
|
NM_001134407.3(GRIN2A):c.2336T>G (p.Leu779Trp)
|
rs1555488084
|
|
|
NM_001134407.3(GRIN2A):c.2337G>A (p.Leu779=)
|
|
|
|
NM_001134407.3(GRIN2A):c.2340T>G (p.Leu780=)
|
|
|
|
NM_001134407.3(GRIN2A):c.2341_2343delinsAT (p.Gln781fs)
|
rs2141230262
|
|
|
NM_001134407.3(GRIN2A):c.2346_2356+8del
|
rs1064795143
|
|
|
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+1G>T
|
rs2141230207
|
|
|
NM_001134407.3(GRIN2A):c.2356+20del
|
rs1567305177
|
|
|
NM_001134407.3(GRIN2A):c.2356+2dup
|
|
|
|
NM_001134407.3(GRIN2A):c.2356+6A>T
|
rs1030132899
|
|
|
NM_001134407.3(GRIN2A):c.2356+9C>G
|
|
|
|
NM_001134407.3(GRIN2A):c.2356G>A (p.Gly786Ser)
|
|
|
|
NM_001134407.3(GRIN2A):c.2357-17T>C
|
|
|
|
NM_001134407.3(GRIN2A):c.2357-19A>C
|
|
|
|
NM_001134407.3(GRIN2A):c.2357-2A>T
|
|
|
|
NM_001134407.3(GRIN2A):c.2357-4C>G
|
|
|
|
NM_001134407.3(GRIN2A):c.2365GAG[1] (p.Glu790del)
|
|
|
|
NM_001134407.3(GRIN2A):c.236C>G (p.Pro79Arg)
|
rs1250662891
|
|
|
NM_001134407.3(GRIN2A):c.2370G>A (p.Glu790=)
|
|
|
|
NM_001134407.3(GRIN2A):c.2378C>T (p.Thr793Ile)
|
rs893189529
|
|
|
NM_001134407.3(GRIN2A):c.2384G>A (p.Trp795Ter)
|
rs1555483728
|
|
|
NM_001134407.3(GRIN2A):c.2386C>A (p.Leu796Ile)
|
|
|
|
NM_001134407.3(GRIN2A):c.2407G>T (p.Glu803Ter)
|
rs1198247451
|
|
|
NM_001134407.3(GRIN2A):c.2408del (p.Glu803fs)
|
rs2141151209
|
|
|
NM_001134407.3(GRIN2A):c.2409GAA[1] (p.Lys804del)
|
|
|
|
NM_001134407.3(GRIN2A):c.2415C>T (p.Asn805=)
|
rs777235967
|
|
|
NM_001134407.3(GRIN2A):c.2416G>C (p.Glu806Gln)
|
|
|
|
NM_001134407.3(GRIN2A):c.2419G>A (p.Val807Met)
|
|
|
|
NM_001134407.3(GRIN2A):c.2427C>A (p.Ser809Arg)
|
rs1064795647
|
|
|
NM_001134407.3(GRIN2A):c.2434C>A (p.Leu812Met)
|
rs752241086
|
|
|
NM_001134407.3(GRIN2A):c.2443G>C (p.Asp815His)
|
rs2141150983
|
|
|
NM_001134407.3(GRIN2A):c.2445C>A (p.Asp815Glu)
|
rs754929310
|
|
|
NM_001134407.3(GRIN2A):c.2445C>T (p.Asp815=)
|
rs754929310
|
|
|
NM_001134407.3(GRIN2A):c.2449A>G (p.Met817Val)
|
rs796052551
|
|
|
NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr)
|
rs1064796608
|
|
|
NM_001134407.3(GRIN2A):c.2450T>G (p.Met817Arg)
|
rs1064796608
|
|
|
NM_001134407.3(GRIN2A):c.2452G>A (p.Ala818Thr)
|
rs1555483699
|
|
|
NM_001134407.3(GRIN2A):c.2453C>A (p.Ala818Glu)
|
rs751455326
|
|
|
NM_001134407.3(GRIN2A):c.2453C>T (p.Ala818Val)
|
rs751455326
|
|
|
NM_001134407.3(GRIN2A):c.2458G>A (p.Val820Ile)
|
|
|
|
NM_001134407.3(GRIN2A):c.2463C>T (p.Phe821=)
|
|
|
|
NM_001134407.3(GRIN2A):c.2466C>G (p.Tyr822Ter)
|
|
|
|
NM_001134407.3(GRIN2A):c.2466C>T (p.Tyr822=)
|
rs2141150691
|
|
|
NM_001134407.3(GRIN2A):c.2472G>A (p.Leu824=)
|
rs1458581648
|
|
|
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>A (p.Leu832Ile)
|
rs145495027
|
|
|
NM_001134407.3(GRIN2A):c.2494C>T (p.Leu832Phe)
|
rs145495027
|
|
|
NM_001134407.3(GRIN2A):c.250A>T (p.Thr84Ser)
|
rs1006328489
|
|
|
NM_001134407.3(GRIN2A):c.2516A>T (p.His839Leu)
|
|
|
|
NM_001134407.3(GRIN2A):c.2517C>A (p.His839Gln)
|
rs769482103
|
|
|
NM_001134407.3(GRIN2A):c.2517C>T (p.His839=)
|
rs769482103
|
|
|
NM_001134407.3(GRIN2A):c.2519T>A (p.Leu840His)
|
|
|
|
NM_001134407.3(GRIN2A):c.2526C>G (p.Tyr842Ter)
|
|
|
|
NM_001134407.3(GRIN2A):c.2526C>T (p.Tyr842=)
|
|
|
|
NM_001134407.3(GRIN2A):c.2536C>T (p.Arg846Cys)
|
|
|
|
NM_001134407.3(GRIN2A):c.2537G>A (p.Arg846His)
|
|
|
|
NM_001134407.3(GRIN2A):c.2537G>T (p.Arg846Leu)
|
|
|
|
NM_001134407.3(GRIN2A):c.253C>G (p.His85Asp)
|
|
|
|
NM_001134407.3(GRIN2A):c.2546T>G (p.Phe849Cys)
|
rs1901086856
|
|
|
NM_001134407.3(GRIN2A):c.2547C>A (p.Phe849Leu)
|
|
|
|
NM_001134407.3(GRIN2A):c.2547C>T (p.Phe849=)
|
rs758351955
|
|
|
NM_001134407.3(GRIN2A):c.2549C>T (p.Thr850Met)
|
rs1060503230
|
|
|
NM_001134407.3(GRIN2A):c.254_261del (p.His85fs)
|
|
|
|
NM_001134407.3(GRIN2A):c.2554G>T (p.Val852Leu)
|
rs150316865
|
|
|
NM_001134407.3(GRIN2A):c.255_256insCTCATGTCCGGG (p.His85_Val86insLeuMetSerGly)
|
rs2142389389
|
|
|
NM_001134407.3(GRIN2A):c.2567G>A (p.Arg856Gln)
|
|
|
|
NM_001134407.3(GRIN2A):c.2567G>T (p.Arg856Leu)
|
|
|
|
NM_001134407.3(GRIN2A):c.2568G>T (p.Arg856=)
|
|
|
|
NM_001134407.3(GRIN2A):c.2569C>A (p.Pro857Thr)
|
rs1195869916
|
|
|
NM_001134407.3(GRIN2A):c.2572G>A (p.Gly858Arg)
|
rs1901083292
|
|
|
NM_001134407.3(GRIN2A):c.2572G>C (p.Gly858Arg)
|
|
|
|
NM_001134407.3(GRIN2A):c.2575T>G (p.Leu859Val)
|
rs1596382621
|
|
|
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+12G>A
|
rs746566593
|
|
|
NM_001134407.3(GRIN2A):c.2595+13G>A
|
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|
NM_001134407.3(GRIN2A):c.2595+18C>A
|
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|
NM_001134407.3(GRIN2A):c.2595+3C>T
|
rs1901081977
|
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|
NM_001134407.3(GRIN2A):c.2595+5G>C
|
rs1064794679
|
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|
NM_001134407.3(GRIN2A):c.2595+7A>G
|
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|
NM_001134407.3(GRIN2A):c.2596-12G>C
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NM_001134407.3(GRIN2A):c.2596-13T>A
|
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|
NM_001134407.3(GRIN2A):c.2596-17A>G
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|
NM_001134407.3(GRIN2A):c.2596-18T>C
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NM_001134407.3(GRIN2A):c.2596-6C>T
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NM_001134407.3(GRIN2A):c.2601C>T (p.Ile867=)
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NM_001134407.3(GRIN2A):c.2606G>C (p.Ser869Thr)
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NM_001134407.3(GRIN2A):c.2607C>T (p.Ser869=)
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|
NM_001134407.3(GRIN2A):c.2611A>G (p.Ile871Val)
|
rs927932970
|
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|
NM_001134407.3(GRIN2A):c.2620G>A (p.Val874Met)
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|
NM_001134407.3(GRIN2A):c.2625C>T (p.His875=)
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NM_001134407.3(GRIN2A):c.2626A>T (p.Ile876Phe)
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|
NM_001134407.3(GRIN2A):c.2627T>A (p.Ile876Asn)
|
rs199784503
|
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|
NM_001134407.3(GRIN2A):c.2627T>C (p.Ile876Thr)
|
rs199784503
|
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|
NM_001134407.3(GRIN2A):c.2635AAG[2] (p.Lys881del)
|
rs766019656
|
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|
NM_001134407.3(GRIN2A):c.2651A>G (p.Asp884Gly)
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|
NM_001134407.3(GRIN2A):c.2658T>A (p.Asn886Lys)
|
rs1321794341
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NM_001134407.3(GRIN2A):c.2661G>C (p.Leu887=)
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|
NM_001134407.3(GRIN2A):c.2663C>G (p.Thr888Arg)
|
rs149698593
|
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NM_001134407.3(GRIN2A):c.2665G>A (p.Gly889Arg)
|
rs1309768715
|
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NM_001134407.3(GRIN2A):c.2670C>T (p.Ser890=)
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|
NM_001134407.3(GRIN2A):c.2674A>G (p.Ser892Gly)
|
rs1060503229
|
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NM_001134407.3(GRIN2A):c.268A>G (p.Met90Val)
|
rs2050232660
|
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|
NM_001134407.3(GRIN2A):c.2694C>T (p.Leu898=)
|
rs569998469
|
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NM_001134407.3(GRIN2A):c.2696G>C (p.Arg899Pro)
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NM_001134407.3(GRIN2A):c.269T>A (p.Met90Lys)
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NM_001134407.3(GRIN2A):c.2710A>T (p.Ile904Phe)
|
rs1555482933
|
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NM_001134407.3(GRIN2A):c.2712T>A (p.Ile904=)
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NM_001134407.3(GRIN2A):c.2715C>T (p.Ser905=)
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NM_001134407.3(GRIN2A):c.2728A>G (p.Met910Val)
|
rs2141137587
|
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NM_001134407.3(GRIN2A):c.273C>G (p.Ser91=)
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NM_001134407.3(GRIN2A):c.2744T>C (p.Met915Thr)
|
rs1060503231
|
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NM_001134407.3(GRIN2A):c.2748C>G (p.Asp916Glu)
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NM_001134407.3(GRIN2A):c.2749T>G (p.Ser917Ala)
|
rs1060503232
|
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NM_001134407.3(GRIN2A):c.2755A>G (p.Lys919Glu)
|
rs1555482911
|
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NM_001134407.3(GRIN2A):c.2759G>C (p.Arg920Thr)
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|
NM_001134407.3(GRIN2A):c.2765C>G (p.Ala922Gly)
|
rs200037904
|
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NM_001134407.3(GRIN2A):c.2769C>G (p.Asp923Glu)
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|
NM_001134407.3(GRIN2A):c.2771T>C (p.Phe924Ser)
|
rs1177789326
|
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NM_001134407.3(GRIN2A):c.2776del (p.Gln926fs)
|
rs1596377481
|
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|
NM_001134407.3(GRIN2A):c.2783G>T (p.Gly928Val)
|
rs2141137106
|
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NM_001134407.3(GRIN2A):c.2784T>G (p.Gly928=)
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|
NM_001134407.3(GRIN2A):c.2788C>G (p.Leu930Val)
|
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|
NM_001134407.3(GRIN2A):c.2790C>G (p.Leu930=)
|
rs1048008799
|
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NM_001134407.3(GRIN2A):c.2792T>C (p.Ile931Thr)
|
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|
NM_001134407.3(GRIN2A):c.2793del (p.Met932fs)
|
rs1596377439
|
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|
NM_001134407.3(GRIN2A):c.27G>A (p.Leu9=)
|
rs2142391446
|
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NM_001134407.3(GRIN2A):c.2801T>C (p.Met934Thr)
|
rs540019898
|
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|
NM_001134407.3(GRIN2A):c.280C>G (p.Arg94Gly)
|
rs1282664179
|
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|
NM_001134407.3(GRIN2A):c.2816G>A (p.Gly939Glu)
|
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|
NM_001134407.3(GRIN2A):c.281G>C (p.Arg94Pro)
|
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|
NM_001134407.3(GRIN2A):c.2821T>C (p.Leu941=)
|
rs1670156767
|
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NM_001134407.3(GRIN2A):c.2829C>G (p.Tyr943Ter)
|
rs397518467
|
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|
NM_001134407.3(GRIN2A):c.2833_2834insTTCAG (p.Asp945fs)
|
rs2141136701
|
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|
NM_001134407.3(GRIN2A):c.2838C>T (p.Asn946=)
|
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|
NM_001134407.3(GRIN2A):c.2844del (p.Gln950fs)
|
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NM_001134407.3(GRIN2A):c.2852G>A (p.Gly951Glu)
|
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|
NM_001134407.3(GRIN2A):c.285C>A (p.Ile95=)
|
rs756116240
|
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NM_001134407.3(GRIN2A):c.2861G>C (p.Ser954Thr)
|
|
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|
NM_001134407.3(GRIN2A):c.2862C>T (p.Ser954=)
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|
NM_001134407.3(GRIN2A):c.2864T>C (p.Ile955Thr)
|
rs778404336
|
|
|
NM_001134407.3(GRIN2A):c.2870G>A (p.Gly957Glu)
|
rs2141136377
|
|
|
NM_001134407.3(GRIN2A):c.2877C>T (p.Asn959=)
|
rs756576680
|
|
|
NM_001134407.3(GRIN2A):c.2884G>A (p.Glu962Lys)
|
|
|
|
NM_001134407.3(GRIN2A):c.2884G>C (p.Glu962Gln)
|
rs765370528
|
|
|
NM_001134407.3(GRIN2A):c.2889C>G (p.Leu963=)
|
|
|
|
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.2894C>T (p.Thr965Ile)
|
rs886042323
|
|
|
NM_001134407.3(GRIN2A):c.2910G>A (p.Arg970=)
|
|
|
|
NM_001134407.3(GRIN2A):c.2929A>C (p.Asn977His)
|
rs776506065
|
|
|
NM_001134407.3(GRIN2A):c.292C>T (p.Leu98Phe)
|
rs1596586969
|
|
|
NM_001134407.3(GRIN2A):c.2933A>T (p.Tyr978Phe)
|
rs948782419
|
|
|
NM_001134407.3(GRIN2A):c.2937A>G (p.Val979=)
|
rs2141135862
|
|
|
NM_001134407.3(GRIN2A):c.2940C>A (p.Phe980Leu)
|
|
|
|
NM_001134407.3(GRIN2A):c.2949A>G (p.Gln983=)
|
rs2141135761
|
|
|
NM_001134407.3(GRIN2A):c.294C>G (p.Leu98=)
|
|
|
|
NM_001134407.3(GRIN2A):c.2958T>G (p.Leu986=)
|
rs1057522359
|
|
|
NM_001134407.3(GRIN2A):c.2959A>G (p.Thr987Ala)
|
rs2141135709
|
|
|
NM_001134407.3(GRIN2A):c.2961T>G (p.Thr987=)
|
|
|
|
NM_001134407.3(GRIN2A):c.2962C>G (p.Leu988Val)
|
|
|
|
NM_001134407.3(GRIN2A):c.2967T>C (p.Asn989=)
|
|
|
|
NM_001134407.3(GRIN2A):c.2970G>A (p.Glu990=)
|
rs1300708683
|
|
|
NM_001134407.3(GRIN2A):c.2970G>C (p.Glu990Asp)
|
|
|
|
NM_001134407.3(GRIN2A):c.2975A>G (p.Asn992Ser)
|
|
|
|
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.2995_2996insAGGTGT (p.Ala999delinsGluValSer)
|
|
|
|
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.2998G>A (p.Val1000Met)
|
rs1596377028
|
|
|
NM_001134407.3(GRIN2A):c.2998G>C (p.Val1000Leu)
|
|
|
|
NM_001134407.3(GRIN2A):c.2T>C (p.Met1Thr)
|
rs397518466
|
|
|
NM_001134407.3(GRIN2A):c.3000G>A (p.Val1000=)
|
|
|
|
NM_001134407.3(GRIN2A):c.3017C>A (p.Ala1006Glu)
|
rs200526162
|
|
|
NM_001134407.3(GRIN2A):c.3025A>T (p.Arg1009Ter)
|
|
|
|
NM_001134407.3(GRIN2A):c.3026G>A (p.Arg1009Lys)
|
rs1900786503
|
|
|
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.3042G>A (p.Trp1014Ter)
|
rs1306036000
|
|
|
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.3064C>G (p.Arg1022Gly)
|
|
|
|
NM_001134407.3(GRIN2A):c.3065G>A (p.Arg1022His)
|
|
|
|
NM_001134407.3(GRIN2A):c.306C>A (p.Asp102Glu)
|
|
|
|
NM_001134407.3(GRIN2A):c.3073T>A (p.Ser1025Thr)
|
rs1596376846
|
|
|
NM_001134407.3(GRIN2A):c.3075A>G (p.Ser1025=)
|
|
|
|
NM_001134407.3(GRIN2A):c.3078A>C (p.Leu1026=)
|
|
|
|
NM_001134407.3(GRIN2A):c.3084G>C (p.Gln1028His)
|
rs796052554
|
|
|
NM_001134407.3(GRIN2A):c.3087T>A (p.Asn1029Lys)
|
|
|
|
NM_001134407.3(GRIN2A):c.3099G>A (p.Gln1033=)
|
|
|
|
NM_001134407.3(GRIN2A):c.3108G>A (p.Glu1036=)
|
rs1555482675
|
|
|
NM_001134407.3(GRIN2A):c.3109G>T (p.Ala1037Ser)
|
|
|
|
NM_001134407.3(GRIN2A):c.3113C>T (p.Thr1038Ile)
|
|
|
|
NM_001134407.3(GRIN2A):c.3116C>T (p.Ala1039Val)
|
rs1900778341
|
|
|
NM_001134407.3(GRIN2A):c.311C>G (p.Thr104Arg)
|
rs1596586938
|
|
|
NM_001134407.3(GRIN2A):c.3123T>A (p.Asn1041Lys)
|
rs574425467
|
|
|
NM_001134407.3(GRIN2A):c.3126G>C (p.Arg1042Ser)
|
|
|
|
NM_001134407.3(GRIN2A):c.3128C>T (p.Thr1043Ile)
|
|
|
|
NM_001134407.3(GRIN2A):c.3129C>G (p.Thr1043=)
|
|
|
|
NM_001134407.3(GRIN2A):c.3131A>G (p.His1044Arg)
|
|
|
|
NM_001134407.3(GRIN2A):c.3132C>T (p.His1044=)
|
rs373175480
|
|
|
NM_001134407.3(GRIN2A):c.314A>G (p.Asp105Gly)
|
rs797045015
|
|
|
NM_001134407.3(GRIN2A):c.3152A>G (p.Tyr1051Cys)
|
rs1567277844
|
|
|
NM_001134407.3(GRIN2A):c.3153T>C (p.Tyr1051=)
|
|
|
|
NM_001134407.3(GRIN2A):c.315C>T (p.Asp105=)
|
|
|
|
NM_001134407.3(GRIN2A):c.3163del (p.Glu1055fs)
|
|
|
|
NM_001134407.3(GRIN2A):c.3164A>T (p.Glu1055Val)
|
rs1900773737
|
|
|
NM_001134407.3(GRIN2A):c.3166A>G (p.Met1056Val)
|
|
|
|
NM_001134407.3(GRIN2A):c.316C>G (p.Gln106Glu)
|
|
|
|
NM_001134407.3(GRIN2A):c.316C>T (p.Gln106Ter)
|
|
|
|
NM_001134407.3(GRIN2A):c.3172C>G (p.His1058Asp)
|
|
|
|
NM_001134407.3(GRIN2A):c.3172C>T (p.His1058Tyr)
|
|
|
|
NM_001134407.3(GRIN2A):c.3174C>A (p.His1058Gln)
|
rs1064796658
|
|
|
NM_001134407.3(GRIN2A):c.3176C>G (p.Ser1059Cys)
|
rs772497745
|
|
|
NM_001134407.3(GRIN2A):c.3178G>A (p.Asp1060Asn)
|
rs879255358
|
|
|
NM_001134407.3(GRIN2A):c.3193T>G (p.Ser1065Ala)
|
|
|
|
NM_001134407.3(GRIN2A):c.3196A>T (p.Asn1066Tyr)
|
|
|
|
NM_001134407.3(GRIN2A):c.3198T>G (p.Asn1066Lys)
|
|
|
|
NM_001134407.3(GRIN2A):c.3199C>T (p.Arg1067Trp)
|
rs1900770162
|
|
|
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.320A>C (p.Glu107Ala)
|
rs2142388375
|
|
|
NM_001134407.3(GRIN2A):c.3211C>T (p.His1071Tyr)
|
rs1555482611
|
|
|
NM_001134407.3(GRIN2A):c.3215G>A (p.Arg1072Lys)
|
|
|
|
NM_001134407.3(GRIN2A):c.3216G>T (p.Arg1072Ser)
|
rs767326993
|
|
|
NM_001134407.3(GRIN2A):c.3219del (p.Glu1073fs)
|
|
|
|
NM_001134407.3(GRIN2A):c.3220C>G (p.Pro1074Ala)
|
rs1900768310
|
|
|
NM_001134407.3(GRIN2A):c.3220C>T (p.Pro1074Ser)
|
rs1900768310
|
|
|
NM_001134407.3(GRIN2A):c.3223G>A (p.Asp1075Asn)
|
|
|
|
NM_001134407.3(GRIN2A):c.3227A>G (p.Asn1076Ser)
|
|
|
|
NM_001134407.3(GRIN2A):c.3230G>C (p.Ser1077Thr)
|
rs1427368529
|
|
|
NM_001134407.3(GRIN2A):c.323C>T (p.Ala108Val)
|
|
|
|
NM_001134407.3(GRIN2A):c.3245C>T (p.Thr1082Ile)
|
|
|
|
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.3249G>T (p.Lys1083Asn)
|
|
|
|
NM_001134407.3(GRIN2A):c.324C>T (p.Ala108=)
|
rs762110435
|
|
|
NM_001134407.3(GRIN2A):c.3250G>A (p.Asp1084Asn)
|
|
|
|
NM_001134407.3(GRIN2A):c.3250G>C (p.Asp1084His)
|
|
|
|
NM_001134407.3(GRIN2A):c.3254A>G (p.Asn1085Ser)
|
rs1900765657
|
|
|
NM_001134407.3(GRIN2A):c.3256T>C (p.Phe1086Leu)
|
|
|
|
NM_001134407.3(GRIN2A):c.325G>A (p.Val109Ile)
|
|
|
|
NM_001134407.3(GRIN2A):c.3263G>A (p.Arg1088Lys)
|
|
|
|
NM_001134407.3(GRIN2A):c.3268G>A (p.Val1090Met)
|
rs1320797353
|
|
|
NM_001134407.3(GRIN2A):c.3269T>C (p.Val1090Ala)
|
rs1596376431
|
|
|
NM_001134407.3(GRIN2A):c.3271G>A (p.Ala1091Thr)
|
rs2141133924
|
|
|
NM_001134407.3(GRIN2A):c.3274T>G (p.Ser1092Ala)
|
|
|
|
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.3299A>G (p.Glu1100Gly)
|
|
|
|
NM_001134407.3(GRIN2A):c.3304G>A (p.Glu1102Lys)
|
rs770546037
|
|
|
NM_001134407.3(GRIN2A):c.3304G>T (p.Glu1102Ter)
|
|
|
|
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.3316C>G (p.Leu1106Val)
|
rs2141133580
|
|
|
NM_001134407.3(GRIN2A):c.3317_3318insTTTTTTTTTTAAT (p.Lys1107fs)
|
rs1419346546
|
|
|
NM_001134407.3(GRIN2A):c.3320A>T (p.Lys1107Ile)
|
rs1185300490
|
|
|
NM_001134407.3(GRIN2A):c.3321_3322insCGGCG (p.Thr1108fs)
|
rs1215972111
|
|
|
NM_001134407.3(GRIN2A):c.3324C>A (p.Thr1108=)
|
|
|
|
NM_001134407.3(GRIN2A):c.3339T>C (p.Pro1113=)
|
rs2141133304
|
|
|
NM_001134407.3(GRIN2A):c.3339_3342del (p.Arg1114fs)
|
rs1379582796
|
|
|
NM_001134407.3(GRIN2A):c.3343G>C (p.Asp1115His)
|
rs1006805133
|
|
|
NM_001134407.3(GRIN2A):c.3345C>G (p.Asp1115Glu)
|
|
|
|
NM_001134407.3(GRIN2A):c.3345C>T (p.Asp1115=)
|
|
|
|
NM_001134407.3(GRIN2A):c.3345_3347del (p.Asp1115_Lys1116delinsGlu)
|
rs1440127051
|
|
|
NM_001134407.3(GRIN2A):c.3349A>T (p.Ile1117Phe)
|
|
|
|
NM_001134407.3(GRIN2A):c.3357T>C (p.Thr1119=)
|
rs1596376124
|
|
|
NM_001134407.3(GRIN2A):c.3359T>G (p.Ile1120Arg)
|
|
|
|
NM_001134407.3(GRIN2A):c.3363T>C (p.Asp1121=)
|
|
|
|
NM_001134407.3(GRIN2A):c.3365G>A (p.Gly1122Asp)
|
rs760885908
|
|
|
NM_001134407.3(GRIN2A):c.3375G>A (p.Glu1125=)
|
|
|
|
NM_001134407.3(GRIN2A):c.3375G>C (p.Glu1125Asp)
|
rs1177482891
|
|
|
NM_001134407.3(GRIN2A):c.3377C>G (p.Pro1126Arg)
|
rs1230714956
|
|
|
NM_001134407.3(GRIN2A):c.3377C>T (p.Pro1126Leu)
|
rs1230714956
|
|
|
NM_001134407.3(GRIN2A):c.3379G>C (p.Gly1127Arg)
|
rs1360004561
|
|
|
NM_001134407.3(GRIN2A):c.3384C>T (p.Phe1128=)
|
rs1596376035
|
|
|
NM_001134407.3(GRIN2A):c.3387C>G (p.His1129Gln)
|
|
|
|
NM_001134407.3(GRIN2A):c.3388T>C (p.Leu1130=)
|
|
|
|
NM_001134407.3(GRIN2A):c.3390A>C (p.Leu1130Phe)
|
rs2141132738
|
|
|
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.3409G>A (p.Glu1137Lys)
|
rs1372666082
|
|
|
NM_001134407.3(GRIN2A):c.3410A>T (p.Glu1137Val)
|
|
|
|
NM_001134407.3(GRIN2A):c.3413A>G (p.Asn1138Ser)
|
rs367543135
|
|
|
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.3426del (p.Glu1143fs)
|
|
|
|
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.3446A>T (p.Asp1149Val)
|
|
|
|
NM_001134407.3(GRIN2A):c.3447C>T (p.Asp1149=)
|
rs2141132170
|
|
|
NM_001134407.3(GRIN2A):c.3451T>C (p.Tyr1151His)
|
rs1555482433
|
|
|
NM_001134407.3(GRIN2A):c.3457G>T (p.Asp1153Tyr)
|
rs267604687
|
|
|
NM_001134407.3(GRIN2A):c.3460C>A (p.Pro1154Thr)
|
rs1900742896
|
|
|
NM_001134407.3(GRIN2A):c.3464G>T (p.Ser1155Ile)
|
|
|
|
NM_001134407.3(GRIN2A):c.3465T>G (p.Ser1155Arg)
|
rs2141131963
|
|
|
NM_001134407.3(GRIN2A):c.3468A>T (p.Glu1156Asp)
|
rs778180100
|
|
|
NM_001134407.3(GRIN2A):c.3475C>T (p.Arg1159Cys)
|
|
|
|
NM_001134407.3(GRIN2A):c.3476G>A (p.Arg1159His)
|
rs534440095
|
|
|
NM_001134407.3(GRIN2A):c.3476G>C (p.Arg1159Pro)
|
rs534440095
|
|
|
NM_001134407.3(GRIN2A):c.3476G>T (p.Arg1159Leu)
|
rs534440095
|
|
|
NM_001134407.3(GRIN2A):c.347T>A (p.Ile116Asn)
|
rs2142388025
|
|
|
NM_001134407.3(GRIN2A):c.347T>G (p.Ile116Ser)
|
rs2142388025
|
|
|
NM_001134407.3(GRIN2A):c.3480G>C (p.Lys1160Asn)
|
rs1900740968
|
|
|
NM_001134407.3(GRIN2A):c.3482G>C (p.Gly1161Ala)
|
rs1900740837
|
|
|
NM_001134407.3(GRIN2A):c.3483G>A (p.Gly1161=)
|
|
|
|
NM_001134407.3(GRIN2A):c.3485A>G (p.Asp1162Gly)
|
|
|
|
NM_001134407.3(GRIN2A):c.3492G>A (p.Thr1164=)
|
rs1330743809
|
|
|
NM_001134407.3(GRIN2A):c.3500T>A (p.Met1167Lys)
|
|
|
|
NM_001134407.3(GRIN2A):c.3504C>G (p.Asn1168Lys)
|
|
|
|
NM_001134407.3(GRIN2A):c.3504C>T (p.Asn1168=)
|
rs999523910
|
|
|
NM_001134407.3(GRIN2A):c.3505C>G (p.Arg1169Gly)
|
|
|
|
NM_001134407.3(GRIN2A):c.3506G>A (p.Arg1169Gln)
|
rs761399460
|
|
|
NM_001134407.3(GRIN2A):c.3513C>T (p.Pro1171=)
|
rs1344421124
|
|
|
NM_001134407.3(GRIN2A):c.3515T>C (p.Leu1172Ser)
|
rs1177807348
|
|
|
NM_001134407.3(GRIN2A):c.3525A>T (p.Glu1175Asp)
|
rs1900735770
|
|
|
NM_001134407.3(GRIN2A):c.3526G>C (p.Glu1176Gln)
|
|
|
|
NM_001134407.3(GRIN2A):c.3531G>A (p.Gly1177=)
|
rs777800482
|
|
|
NM_001134407.3(GRIN2A):c.3531G>T (p.Gly1177=)
|
|
|
|
NM_001134407.3(GRIN2A):c.3539A>T (p.Asn1180Ile)
|
rs972229279
|
|
|
NM_001134407.3(GRIN2A):c.3543C>T (p.Asn1181=)
|
|
|
|
NM_001134407.3(GRIN2A):c.3544G>A (p.Asp1182Asn)
|
rs375160358
|
|
|
NM_001134407.3(GRIN2A):c.3544G>T (p.Asp1182Tyr)
|
rs375160358
|
|
|
NM_001134407.3(GRIN2A):c.3556C>T (p.Leu1186Phe)
|
rs763440308
|
|
|
NM_001134407.3(GRIN2A):c.3558C>G (p.Leu1186=)
|
|
|
|
NM_001134407.3(GRIN2A):c.3567G>A (p.Lys1189=)
|
|
|
|
NM_001134407.3(GRIN2A):c.3569A>T (p.His1190Leu)
|
|
|
|
NM_001134407.3(GRIN2A):c.3571T>C (p.Phe1191Leu)
|
|
|
|
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.358A>G (p.Thr120Ala)
|
rs2050229149
|
|
|
NM_001134407.3(GRIN2A):c.3591T>A (p.Gly1197=)
|
rs532278751
|
|
|
NM_001134407.3(GRIN2A):c.3594C>A (p.Ser1198=)
|
|
|
|
NM_001134407.3(GRIN2A):c.3596C>T (p.Pro1199Leu)
|
|
|
|
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.3602G>A (p.Ser1201Asn)
|
|
|
|
NM_001134407.3(GRIN2A):c.3609del (p.Ser1204fs)
|
|
|
|
NM_001134407.3(GRIN2A):c.360C>T (p.Thr120=)
|
|
|
|
NM_001134407.3(GRIN2A):c.3612C>G (p.Ser1204Arg)
|
|
|
|
NM_001134407.3(GRIN2A):c.3616C>A (p.Arg1206=)
|
|
|
|
NM_001134407.3(GRIN2A):c.3621C>T (p.Tyr1207=)
|
|
|
|
NM_001134407.3(GRIN2A):c.3622C>T (p.Arg1208Trp)
|
|
|
|
NM_001134407.3(GRIN2A):c.3630C>T (p.Asn1210=)
|
rs750892541
|
|
|
NM_001134407.3(GRIN2A):c.3631_3633del (p.Ser1211del)
|
rs769008155
|
|
|
NM_001134407.3(GRIN2A):c.3633C>T (p.Ser1211=)
|
|
|
|
NM_001134407.3(GRIN2A):c.3635C>A (p.Thr1212Lys)
|
|
|
|
NM_001134407.3(GRIN2A):c.3635C>T (p.Thr1212Met)
|
rs1042202486
|
|
|
NM_001134407.3(GRIN2A):c.363C>T (p.Phe121=)
|
|
|
|
NM_001134407.3(GRIN2A):c.3647G>C (p.Ser1216Thr)
|
rs367543134
|
|
|
NM_001134407.3(GRIN2A):c.3659A>C (p.Asn1220Thr)
|
rs1131691913
|
|
|
NM_001134407.3(GRIN2A):c.3660C>T (p.Asn1220=)
|
rs945221421
|
|
|
NM_001134407.3(GRIN2A):c.3665C>T (p.Pro1222Leu)
|
|
|
|
NM_001134407.3(GRIN2A):c.3668C>A (p.Thr1223Asn)
|
rs770966136
|
|
|
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.367C>G (p.Pro123Ala)
|
rs2050228811
|
|
|
NM_001134407.3(GRIN2A):c.3687C>A (p.Thr1229=)
|
rs1060504863
|
|
|
NM_001134407.3(GRIN2A):c.368C>T (p.Pro123Leu)
|
rs2050228721
|
|
|
NM_001134407.3(GRIN2A):c.3693dup (p.Ser1232fs)
|
rs2141130040
|
|
|
NM_001134407.3(GRIN2A):c.3698C>A (p.Pro1233His)
|
|
|
|
NM_001134407.3(GRIN2A):c.369C>T (p.Pro123=)
|
rs2050228632
|
|
|
NM_001134407.3(GRIN2A):c.3705G>C (p.Lys1235Asn)
|
rs1029138195
|
|
|
NM_001134407.3(GRIN2A):c.3711T>A (p.Asp1237Glu)
|
rs1224957842
|
|
|
NM_001134407.3(GRIN2A):c.3713C>A (p.Ala1238Asp)
|
|
|
|
NM_001134407.3(GRIN2A):c.3718C>T (p.Leu1240=)
|
|
|
|
NM_001134407.3(GRIN2A):c.3720G>A (p.Leu1240=)
|
|
|
|
NM_001134407.3(GRIN2A):c.3737A>G (p.Tyr1246Cys)
|
rs779437393
|
|
|
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.3785C>T (p.Thr1262Ile)
|
rs587780351
|
|
|
NM_001134407.3(GRIN2A):c.3786C>G (p.Thr1262=)
|
|
|
|
NM_001134407.3(GRIN2A):c.3786C>T (p.Thr1262=)
|
|
|
|
NM_001134407.3(GRIN2A):c.3792G>A (p.Glu1264=)
|
rs2141129533
|
|
|
NM_001134407.3(GRIN2A):c.3795G>A (p.Gln1265=)
|
rs147556384
|
|
|
NM_001134407.3(GRIN2A):c.3796G>T (p.Val1266Phe)
|
rs758615952
|
|
|
NM_001134407.3(GRIN2A):c.3799T>C (p.Tyr1267His)
|
rs2141129483
|
|
|
NM_001134407.3(GRIN2A):c.3800A>C (p.Tyr1267Ser)
|
rs1333994593
|
|
|
NM_001134407.3(GRIN2A):c.3800A>G (p.Tyr1267Cys)
|
|
|
|
NM_001134407.3(GRIN2A):c.3804G>T (p.Gln1268His)
|
rs1303683757
|
|
|
NM_001134407.3(GRIN2A):c.3814G>A (p.Ala1272Thr)
|
|
|
|
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.3820A>G (p.Asn1274Asp)
|
rs1567275934
|
|
|
NM_001134407.3(GRIN2A):c.3821A>G (p.Asn1274Ser)
|
|
|
|
NM_001134407.3(GRIN2A):c.3825T>C (p.Asn1275=)
|
rs2141129262
|
|
|
NM_001134407.3(GRIN2A):c.3833A>T (p.Gln1278Leu)
|
|
|
|
NM_001134407.3(GRIN2A):c.3838C>A (p.Gln1280Lys)
|
|
|
|
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.3848A>G (p.Lys1283Arg)
|
rs1900705371
|
|
|
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>A (p.Ser1291Tyr)
|
|
|
|
NM_001134407.3(GRIN2A):c.3872C>T (p.Ser1291Phe)
|
|
|
|
NM_001134407.3(GRIN2A):c.3877G>A (p.Asp1293Asn)
|
|
|
|
NM_001134407.3(GRIN2A):c.3877G>C (p.Asp1293His)
|
|
|
|
NM_001134407.3(GRIN2A):c.3877G>T (p.Asp1293Tyr)
|
rs778230379
|
|
|
NM_001134407.3(GRIN2A):c.3881A>T (p.Asn1294Ile)
|
|
|
|
NM_001134407.3(GRIN2A):c.3884T>A (p.Ile1295Asn)
|
|
|
|
NM_001134407.3(GRIN2A):c.3887del (p.Val1296fs)
|
rs1900702353
|
|
|
NM_001134407.3(GRIN2A):c.3889G>A (p.Asp1297Asn)
|
rs1431125566
|
|
|
NM_001134407.3(GRIN2A):c.3896C>G (p.Pro1299Arg)
|
rs1156972587
|
|
|
NM_001134407.3(GRIN2A):c.38C>G (p.Pro13Arg)
|
rs367543131
|
|
|
NM_001134407.3(GRIN2A):c.3902A>G (p.Glu1301Gly)
|
|
|
|
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.3919C>A (p.Pro1307Thr)
|
|
|
|
NM_001134407.3(GRIN2A):c.3926G>A (p.Arg1309Gln)
|
|
|
|
NM_001134407.3(GRIN2A):c.3926G>T (p.Arg1309Leu)
|
rs1900699130
|
|
|
NM_001134407.3(GRIN2A):c.3927G>C (p.Arg1309=)
|
|
|
|
NM_001134407.3(GRIN2A):c.3928A>C (p.Ser1310Arg)
|
|
|
|
NM_001134407.3(GRIN2A):c.3930C>T (p.Ser1310=)
|
|
|
|
NM_001134407.3(GRIN2A):c.3935G>C (p.Ser1312Thr)
|
|
|
|
NM_001134407.3(GRIN2A):c.3936C>A (p.Ser1312Arg)
|
rs267604685
|
|
|
NM_001134407.3(GRIN2A):c.3939C>G (p.Leu1313=)
|
rs2141128266
|
|
|
NM_001134407.3(GRIN2A):c.3940A>G (p.Lys1314Glu)
|
|
|
|
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.3976G>A (p.Gly1326Ser)
|
|
|
|
NM_001134407.3(GRIN2A):c.3976G>C (p.Gly1326Arg)
|
|
|
|
NM_001134407.3(GRIN2A):c.3978C>G (p.Gly1326=)
|
rs368066766
|
|
|
NM_001134407.3(GRIN2A):c.3978C>T (p.Gly1326=)
|
|
|
|
NM_001134407.3(GRIN2A):c.3979A>G (p.Ser1327Gly)
|
|
|
|
NM_001134407.3(GRIN2A):c.397A>G (p.Met133Val)
|
rs77288930
|
|
|
NM_001134407.3(GRIN2A):c.3996C>A (p.Pro1332=)
|
|
|
|
NM_001134407.3(GRIN2A):c.3G>T (p.Met1Ile)
|
rs868762895
|
|
|
NM_001134407.3(GRIN2A):c.4000A>G (p.Ser1334Gly)
|
|
|
|
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.4030T>C (p.Phe1344Leu)
|
rs2141127334
|
|
|
NM_001134407.3(GRIN2A):c.4031T>C (p.Phe1344Ser)
|
|
|
|
NM_001134407.3(GRIN2A):c.4032C>A (p.Phe1344Leu)
|
|
|
|
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.4067C>G (p.Ser1356Cys)
|
|
|
|
NM_001134407.3(GRIN2A):c.4084A>G (p.Thr1362Ala)
|
rs77282679
|
|
|
NM_001134407.3(GRIN2A):c.4085C>A (p.Thr1362Asn)
|
|
|
|
NM_001134407.3(GRIN2A):c.4085C>G (p.Thr1362Ser)
|
|
|
|
NM_001134407.3(GRIN2A):c.4089C>T (p.Ser1363=)
|
|
|
|
NM_001134407.3(GRIN2A):c.4095C>T (p.Asn1365=)
|
|
|
|
NM_001134407.3(GRIN2A):c.4110C>A (p.Ser1370=)
|
rs2141126546
|
|
|
NM_001134407.3(GRIN2A):c.4117G>C (p.Asp1373His)
|
|
|
|
NM_001134407.3(GRIN2A):c.4126C>G (p.Arg1376Gly)
|
rs1426934537
|
|
|
NM_001134407.3(GRIN2A):c.4126C>T (p.Arg1376Cys)
|
rs1426934537
|
|
|
NM_001134407.3(GRIN2A):c.4131G>C (p.Leu1377Phe)
|
|
|
|
NM_001134407.3(GRIN2A):c.414+15T>C
|
|
|
|
NM_001134407.3(GRIN2A):c.414+16G>A
|
|
|
|
NM_001134407.3(GRIN2A):c.414+5G>A
|
rs2142387204
|
|
|
NM_001134407.3(GRIN2A):c.414+8C>T
|
|
|
|
NM_001134407.3(GRIN2A):c.4140G>C (p.Gly1380=)
|
rs373901698
|
|
|
NM_001134407.3(GRIN2A):c.415-10del
|
rs2044774386
|
|
|
NM_001134407.3(GRIN2A):c.415-15T>C
|
rs1057522859
|
|
|
NM_001134407.3(GRIN2A):c.415-2A>G
|
rs2141633312
|
|
|
NM_001134407.3(GRIN2A):c.415-4G>T
|
rs1596345068
|
|
|
NM_001134407.3(GRIN2A):c.415-89902G>A
|
rs2141916983
|
|
|
NM_001134407.3(GRIN2A):c.415-9C>T
|
rs747828140
|
|
|
NM_001134407.3(GRIN2A):c.4153G>A (p.Asp1385Asn)
|
rs1900682901
|
|
|
NM_001134407.3(GRIN2A):c.4157C>T (p.Pro1386Leu)
|
rs1277391984
|
|
|
NM_001134407.3(GRIN2A):c.4164A>G (p.Lys1388=)
|
|
|
|
NM_001134407.3(GRIN2A):c.4165C>T (p.His1389Tyr)
|
rs2141125985
|
|
|
NM_001134407.3(GRIN2A):c.4167C>G (p.His1389Gln)
|
rs779614780
|
|
|
NM_001134407.3(GRIN2A):c.4183G>A (p.Ala1395Thr)
|
|
|
|
NM_001134407.3(GRIN2A):c.4184C>A (p.Ala1395Glu)
|
rs199696775
|
|
|
NM_001134407.3(GRIN2A):c.418C>A (p.Pro140Thr)
|
rs776317814
|
|
|
NM_001134407.3(GRIN2A):c.4195A>G (p.Ser1399Gly)
|
|
|
|
NM_001134407.3(GRIN2A):c.4198T>C (p.Tyr1400His)
|
|
|
|
NM_001134407.3(GRIN2A):c.4201C>T (p.Leu1401Phe)
|
|
|
|
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.4208C>T (p.Ser1403Leu)
|
rs1456715393
|
|
|
NM_001134407.3(GRIN2A):c.420G>A (p.Pro140=)
|
rs367543126
|
|
|
NM_001134407.3(GRIN2A):c.420G>T (p.Pro140=)
|
|
|
|
NM_001134407.3(GRIN2A):c.4219T>G (p.Ser1407Ala)
|
|
|
|
NM_001134407.3(GRIN2A):c.4220C>T (p.Ser1407Leu)
|
|
|
|
NM_001134407.3(GRIN2A):c.4223C>T (p.Thr1408Met)
|
|
|
|
NM_001134407.3(GRIN2A):c.4229C>T (p.Ser1410Leu)
|
|
|
|
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>A (p.Cys1412Ser)
|
rs1262702313
|
|
|
NM_001134407.3(GRIN2A):c.4234T>C (p.Cys1412Arg)
|
rs1262702313
|
|
|
NM_001134407.3(GRIN2A):c.4235G>C (p.Cys1412Ser)
|
rs1900675462
|
|
|
NM_001134407.3(GRIN2A):c.4247G>A (p.Ser1416Asn)
|
rs377712891
|
|
|
NM_001134407.3(GRIN2A):c.4247G>C (p.Ser1416Thr)
|
rs377712891
|
|
|
NM_001134407.3(GRIN2A):c.4247G>T (p.Ser1416Ile)
|
rs377712891
|
|
|
NM_001134407.3(GRIN2A):c.4249C>T (p.Arg1417Trp)
|
rs369508378
|
|
|
NM_001134407.3(GRIN2A):c.4252G>T (p.Gly1418Cys)
|
|
|
|
NM_001134407.3(GRIN2A):c.4261G>T (p.Asp1421Tyr)
|
rs1567275051
|
|
|
NM_001134407.3(GRIN2A):c.4262A>T (p.Asp1421Val)
|
|
|
|
NM_001134407.3(GRIN2A):c.4266G>A (p.Val1422=)
|
|
|
|
NM_001134407.3(GRIN2A):c.4267T>G (p.Tyr1423Asp)
|
rs1900671651
|
|
|
NM_001134407.3(GRIN2A):c.4271T>C (p.Ile1424Thr)
|
|
|
|
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.4319C>T (p.Ser1440Phe)
|
rs752489703
|
|
|
NM_001134407.3(GRIN2A):c.4320_4324del (p.Thr1441fs)
|
rs1900666405
|
|
|
NM_001134407.3(GRIN2A):c.4320del (p.Thr1441fs)
|
rs2141124790
|
|
|
NM_001134407.3(GRIN2A):c.4323C>G (p.Thr1441=)
|
rs1246423634
|
|
|
NM_001134407.3(GRIN2A):c.4324C>G (p.Pro1442Ala)
|
rs59975221
|
|
|
NM_001134407.3(GRIN2A):c.4325C>G (p.Pro1442Arg)
|
|
|
|
NM_001134407.3(GRIN2A):c.4326C>T (p.Pro1442=)
|
|
|
|
NM_001134407.3(GRIN2A):c.4328G>A (p.Arg1443Lys)
|
rs2141124724
|
|
|
NM_001134407.3(GRIN2A):c.432C>T (p.Phe144=)
|
|
|
|
NM_001134407.3(GRIN2A):c.4330del (p.Val1444fs)
|
|
|
|
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>A (p.Val1453Met)
|
rs201707833
|
|
|
NM_001134407.3(GRIN2A):c.4357G>T (p.Val1453Leu)
|
|
|
|
NM_001134407.3(GRIN2A):c.4367A>G (p.Lys1456Arg)
|
|
|
|
NM_001134407.3(GRIN2A):c.4372C>T (p.Pro1458Ser)
|
|
|
|
NM_001134407.3(GRIN2A):c.4373C>G (p.Pro1458Arg)
|
rs933017490
|
|
|
NM_001134407.3(GRIN2A):c.4373C>T (p.Pro1458Leu)
|
|
|
|
NM_001134407.3(GRIN2A):c.4375A>G (p.Ser1459Gly)
|
rs869312681
|
|
|
NM_001134407.3(GRIN2A):c.4379T>C (p.Ile1460Thr)
|
rs1394154823
|
|
|
NM_001134407.3(GRIN2A):c.4380C>T (p.Ile1460=)
|
|
|
|
NM_001134407.3(GRIN2A):c.4389T>G (p.Asp1463Glu)
|
rs748047572
|
|
|
NM_001134407.3(GRIN2A):c.4393del (p.Ter1465LysextTer?)
|
rs2141124456
|
|
|
NM_001134407.3(GRIN2A):c.440T>C (p.Phe147Ser)
|
|
|
|
NM_001134407.3(GRIN2A):c.452_463del (p.Ile151_Ala155delinsThr)
|
rs2141632937
|
|
|
NM_001134407.3(GRIN2A):c.454C>G (p.Gln152Glu)
|
rs1555455829
|
|
|
NM_001134407.3(GRIN2A):c.456G>T (p.Gln152His)
|
|
|
|
NM_001134407.3(GRIN2A):c.460C>T (p.Gln154Ter)
|
rs1555455815
|
|
|
NM_001134407.3(GRIN2A):c.465C>T (p.Ala155=)
|
|
|
|
NM_001134407.3(GRIN2A):c.468G>C (p.Thr156=)
|
|
|
|
NM_001134407.3(GRIN2A):c.476T>C (p.Leu159Pro)
|
rs1555455805
|
|
|
NM_001134407.3(GRIN2A):c.476del (p.Leu159fs)
|
|
|
|
NM_001134407.3(GRIN2A):c.479A>G (p.Lys160Arg)
|
|
|
|
NM_001134407.3(GRIN2A):c.483C>G (p.Ile161Met)
|
|
|
|
NM_001134407.3(GRIN2A):c.487C>T (p.Gln163Ter)
|
rs1057524089
|
|
|
NM_001134407.3(GRIN2A):c.48G>A (p.Leu16=)
|
|
|
|
NM_001134407.3(GRIN2A):c.498C>T (p.Asp166=)
|
|
|
|
NM_001134407.3(GRIN2A):c.499T>C (p.Trp167Arg)
|
|
|
|
NM_001134407.3(GRIN2A):c.49G>A (p.Val17Ile)
|
rs2050242807
|
|
|
NM_001134407.3(GRIN2A):c.500G>A (p.Trp167Ter)
|
rs1555455776
|
|
|
NM_001134407.3(GRIN2A):c.507C>G (p.Val169=)
|
|
|
|
NM_001134407.3(GRIN2A):c.50_54del (p.Val17fs)
|
rs2050242587
|
|
|
NM_001134407.3(GRIN2A):c.521C>A (p.Thr174Asn)
|
|
|
|
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.546dup (p.Phe183fs)
|
rs2141632418
|
|
|
NM_001134407.3(GRIN2A):c.550A>G (p.Ile184Val)
|
|
|
|
NM_001134407.3(GRIN2A):c.551T>G (p.Ile184Ser)
|
rs2141632382
|
|
|
NM_001134407.3(GRIN2A):c.558C>T (p.Phe186=)
|
|
|
|
NM_001134407.3(GRIN2A):c.55C>T (p.Arg19Cys)
|
rs768469157
|
|
|
NM_001134407.3(GRIN2A):c.566C>A (p.Thr189Asn)
|
rs1377082706
|
|
|
NM_001134407.3(GRIN2A):c.566C>T (p.Thr189Ile)
|
rs1377082706
|
|
|
NM_001134407.3(GRIN2A):c.567C>G (p.Thr189=)
|
|
|
|
NM_001134407.3(GRIN2A):c.568A>G (p.Thr190Ala)
|
rs886051634
|
|
|
NM_001134407.3(GRIN2A):c.56G>C (p.Arg19Pro)
|
|
|
|
NM_001134407.3(GRIN2A):c.579C>G (p.Asn193Lys)
|
|
|
|
NM_001134407.3(GRIN2A):c.586G>C (p.Val196Leu)
|
|
|
|
NM_001134407.3(GRIN2A):c.586G>T (p.Val196Leu)
|
rs901580617
|
|
|
NM_001134407.3(GRIN2A):c.58_67dup (p.Pro23fs)
|
rs1596587476
|
|
|
NM_001134407.3(GRIN2A):c.593G>A (p.Trp198Ter)
|
rs1555455727
|
|
|
NM_001134407.3(GRIN2A):c.594G>A (p.Trp198Ter)
|
rs1555455726
|
|
|
NM_001134407.3(GRIN2A):c.595G>A (p.Asp199Asn)
|
rs1200624532
|
|
|
NM_001134407.3(GRIN2A):c.598A>G (p.Met200Val)
|
|
|
|
NM_001134407.3(GRIN2A):c.59_66del (p.Gly20fs)
|
|
|
|
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.611T>A (p.Ile204Asn)
|
|
|
|
NM_001134407.3(GRIN2A):c.613_614insACTGCCTCA (p.Ile204_Thr205insAsnCysLeu)
|
|
|
|
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.627del (p.Phe210fs)
|
rs796052560
|
|
|
NM_001134407.3(GRIN2A):c.629T>C (p.Phe210Ser)
|
|
|
|
NM_001134407.3(GRIN2A):c.633G>C (p.Glu211Asp)
|
rs771580780
|
|
|
NM_001134407.3(GRIN2A):c.634G>A (p.Asp212Asn)
|
rs1396813794
|
|
|
NM_001134407.3(GRIN2A):c.637G>A (p.Ala213Thr)
|
rs2044765102
|
|
|
NM_001134407.3(GRIN2A):c.63G>A (p.Pro21=)
|
rs1060504865
|
|
|
NM_001134407.3(GRIN2A):c.63G>C (p.Pro21=)
|
rs1060504865
|
|
|
NM_001134407.3(GRIN2A):c.645del (p.Gln216fs)
|
rs2141631751
|
|
|
NM_001134407.3(GRIN2A):c.652C>T (p.Gln218Ter)
|
rs387906637
|
|
|
NM_001134407.3(GRIN2A):c.664A>G (p.Ile222Val)
|
|
|
|
NM_001134407.3(GRIN2A):c.665T>C (p.Ile222Thr)
|
|
|
|
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.689A>T (p.Tyr230Phe)
|
rs996900968
|
|
|
NM_001134407.3(GRIN2A):c.68C>A (p.Pro23Gln)
|
rs969233060
|
|
|
NM_001134407.3(GRIN2A):c.691T>C (p.Cys231Arg)
|
rs2141631426
|
|
|
NM_001134407.3(GRIN2A):c.692G>A (p.Cys231Tyr)
|
rs1238779318
|
|
|
NM_001134407.3(GRIN2A):c.69G>A (p.Pro23=)
|
|
|
|
NM_001134407.3(GRIN2A):c.703G>T (p.Glu235Ter)
|
rs2044763223
|
|
|
NM_001134407.3(GRIN2A):c.712C>T (p.Leu238Phe)
|
|
|
|
NM_001134407.3(GRIN2A):c.720G>A (p.Leu240=)
|
rs1041367014
|
|
|
NM_001134407.3(GRIN2A):c.720G>C (p.Leu240=)
|
|
|
|
NM_001134407.3(GRIN2A):c.72C>A (p.Ser24Arg)
|
rs781722466
|
|
|
NM_001134407.3(GRIN2A):c.730C>G (p.Arg244Gly)
|
|
|
|
NM_001134407.3(GRIN2A):c.730dup (p.Arg244fs)
|
rs2044762657
|
|
|
NM_001134407.3(GRIN2A):c.734C>G (p.Ser245Cys)
|
|
|
|
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.806del (p.Pro269fs)
|
|
|
|
NM_001134407.3(GRIN2A):c.809_810del (p.Lys270fs)
|
|
|
|
NM_001134407.3(GRIN2A):c.812_813del (p.Glu271fs)
|
rs2141630590
|
|
|
NM_001134407.3(GRIN2A):c.822G>A (p.Ser274=)
|
rs759344136
|
|
|
NM_001134407.3(GRIN2A):c.824G>A (p.Gly275Glu)
|
rs2044759670
|
|
|
NM_001134407.3(GRIN2A):c.827T>A (p.Leu276His)
|
|
|
|
NM_001134407.3(GRIN2A):c.827T>C (p.Leu276Pro)
|
rs2044759550
|
|
|
NM_001134407.3(GRIN2A):c.828C>G (p.Leu276=)
|
rs752295285
|
|
|
NM_001134407.3(GRIN2A):c.82_84del (p.Glu28del)
|
rs767188122
|
|
|
NM_001134407.3(GRIN2A):c.846T>C (p.Asp282=)
|
rs2141630353
|
|
|
NM_001134407.3(GRIN2A):c.849C>T (p.Asp283=)
|
|
|
|
NM_001134407.3(GRIN2A):c.851G>A (p.Trp284Ter)
|
rs1555455620
|
|
|
NM_001134407.3(GRIN2A):c.852G>A (p.Trp284Ter)
|
rs1555455618
|
|
|
NM_001134407.3(GRIN2A):c.854A>C (p.Asp285Ala)
|
rs1016685456
|
|
|
NM_001134407.3(GRIN2A):c.858C>T (p.Tyr286=)
|
|
|
|
NM_001134407.3(GRIN2A):c.859A>G (p.Ser287Gly)
|
rs1555455615
|
|
|
NM_001134407.3(GRIN2A):c.861C>A (p.Ser287Arg)
|
|
|
|
NM_001134407.3(GRIN2A):c.861C>T (p.Ser287=)
|
|
|
|
NM_001134407.3(GRIN2A):c.879G>A (p.Arg293=)
|
rs2141630122
|
|
|
NM_001134407.3(GRIN2A):c.883G>C (p.Gly295Arg)
|
rs568484876
|
|
|
NM_001134407.3(GRIN2A):c.886A>G (p.Ile296Val)
|
rs953400144
|
|
|
NM_001134407.3(GRIN2A):c.890G>A (p.Gly297Asp)
|
rs775591257
|
|
|
NM_001134407.3(GRIN2A):c.890G>C (p.Gly297Ala)
|
|
|
|
NM_001134407.3(GRIN2A):c.89G>A (p.Gly30Asp)
|
rs1567354651
|
|
|
NM_001134407.3(GRIN2A):c.904G>C (p.Ala302Pro)
|
|
|
|
NM_001134407.3(GRIN2A):c.904G>T (p.Ala302Ser)
|
rs901717931
|
|
|
NM_001134407.3(GRIN2A):c.90T>C (p.Gly30=)
|
rs1204355370
|
|
|
NM_001134407.3(GRIN2A):c.90dup (p.Pro31fs)
|
rs2142390867
|
|
|
NM_001134407.3(GRIN2A):c.914C>G (p.Ser305Cys)
|
rs1596344343
|
|
|
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.92C>T (p.Pro31Leu)
|
rs2050239798
|
|
|
NM_001134407.3(GRIN2A):c.932C>A (p.Ser311Tyr)
|
|
|
|
NM_001134407.3(GRIN2A):c.932C>T (p.Ser311Phe)
|
rs754698963
|
|
|
NM_001134407.3(GRIN2A):c.933C>T (p.Ser311=)
|
|
|
|
NM_001134407.3(GRIN2A):c.934T>C (p.Tyr312His)
|
rs2044756352
|
|
|
NM_001134407.3(GRIN2A):c.934T>G (p.Tyr312Asp)
|
rs2044756352
|
|
|
NM_001134407.3(GRIN2A):c.937A>C (p.Ile313Leu)
|
rs1465063447
|
|
|
NM_001134407.3(GRIN2A):c.93C>T (p.Pro31=)
|
|
|
|
NM_001134407.3(GRIN2A):c.942del (p.Glu315fs)
|
|
|
|
NM_001134407.3(GRIN2A):c.94C>T (p.Pro32Ser)
|
|
|
|
NM_001134407.3(GRIN2A):c.952G>A (p.Ala318Thr)
|
rs1567186996
|
|
|
NM_001134407.3(GRIN2A):c.954C>G (p.Ala318=)
|
rs2044755576
|
|
|
NM_001134407.3(GRIN2A):c.960C>T (p.Cys320=)
|
|
|
|
NM_001134407.3(GRIN2A):c.967C>A (p.Gln323Lys)
|
|
|
|
NM_001134407.3(GRIN2A):c.968A>G (p.Gln323Arg)
|
rs2044755009
|
|
|
NM_001134407.3(GRIN2A):c.96C>A (p.Pro32=)
|
|
|
|
NM_001134407.3(GRIN2A):c.96dup (p.Ala33fs)
|
rs1555491538
|
|
|
NM_001134407.3(GRIN2A):c.970A>G (p.Met324Val)
|
rs1596344233
|
|
|
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.*1022TTTG[1]
|
rs755720081
|
|
|
NM_001161352.2(KCNMA1):c.*1131C>A
|
rs2036799787
|
|
|
NM_001161352.2(KCNMA1):c.*113dup
|
rs144100057
|
|
|
NM_001161352.2(KCNMA1):c.*1165C>T
|
rs886047262
|
|
|
NM_001161352.2(KCNMA1):c.*1288A>T
|
rs78082918
|
|
|
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.-101_-96dup
|
rs545094311
|
|
|
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.1044C>T (p.Val348=)
|
|
|
|
NM_001161352.2(KCNMA1):c.1049T>G (p.Met350Arg)
|
|
|
|
NM_001161352.2(KCNMA1):c.104G>A (p.Ser35Asn)
|
|
|
|
NM_001161352.2(KCNMA1):c.1054A>G (p.Thr352Ala)
|
rs863224885
|
|
|
NM_001161352.2(KCNMA1):c.105C>T (p.Ser35=)
|
|
|
|
NM_001161352.2(KCNMA1):c.1060G>A (p.Gly354Ser)
|
rs1564596167
|
|
|
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.1105A>T (p.Met369Leu)
|
rs2153875624
|
|
|
NM_001161352.2(KCNMA1):c.1112T>G (p.Phe371Cys)
|
|
|
|
NM_001161352.2(KCNMA1):c.111C>T (p.Asp37=)
|
|
|
|
NM_001161352.2(KCNMA1):c.112G>A (p.Ala38Thr)
|
rs767099267
|
|
|
NM_001161352.2(KCNMA1):c.112G>C (p.Ala38Pro)
|
rs767099267
|
|
|
NM_001161352.2(KCNMA1):c.112G>T (p.Ala38Ser)
|
|
|
|
NM_001161352.2(KCNMA1):c.1131+11A>G
|
|
|
|
NM_001161352.2(KCNMA1):c.1131+11del
|
rs545073914
|
|
|
NM_001161352.2(KCNMA1):c.1131+11dup
|
rs545073914
|
|
|
NM_001161352.2(KCNMA1):c.1131+20A>G
|
|
|
|
NM_001161352.2(KCNMA1):c.1132G>A (p.Ala378Thr)
|
rs2097249003
|
|
|
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.1171A>G (p.Ile391Val)
|
rs1402453017
|
|
|
NM_001161352.2(KCNMA1):c.117C>T (p.Ser39=)
|
rs2154572156
|
|
|
NM_001161352.2(KCNMA1):c.117CTC[10] (p.Ser58_Ser60dup)
|
rs572827902
|
|
|
NM_001161352.2(KCNMA1):c.117CTC[11] (p.Ser57_Ser60dup)
|
rs572827902
|
|
|
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.117CTC[8] (p.Ser60dup)
|
rs572827902
|
|
|
NM_001161352.2(KCNMA1):c.117CTC[9] (p.Ser59_Ser60dup)
|
rs572827902
|
|
|
NM_001161352.2(KCNMA1):c.1181G>A (p.Arg394His)
|
rs1397483743
|
|
|
NM_001161352.2(KCNMA1):c.1197C>T (p.Gly399=)
|
rs2153860930
|
|
|
NM_001161352.2(KCNMA1):c.1208C>T (p.Ala403Val)
|
|
|
|
NM_001161352.2(KCNMA1):c.1213A>T (p.Ser405Cys)
|
|
|
|
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.1224-326G>C
|
rs2153793727
|
|
|
NM_001161352.2(KCNMA1):c.1229T>C (p.Ile410Thr)
|
rs2153792409
|
|
|
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.1284del (p.Leu429fs)
|
rs2153792334
|
|
|
NM_001161352.2(KCNMA1):c.1297C>A (p.Arg433=)
|
|
|
|
NM_001161352.2(KCNMA1):c.12_17dup (p.Gly10_Ser11insGlyGly)
|
|
|
|
NM_001161352.2(KCNMA1):c.12_20dup (p.Gly10_Ser11insGlyGlyGly)
|
|
|
|
NM_001161352.2(KCNMA1):c.1311T>C (p.Asn437=)
|
rs1182112018
|
|
|
NM_001161352.2(KCNMA1):c.1315G>A (p.Glu439Lys)
|
|
|
|
NM_001161352.2(KCNMA1):c.132_143dup (p.Ser60_Val61insSerSerSerSer)
|
|
|
|
NM_001161352.2(KCNMA1):c.1334+16T>A
|
|
|
|
NM_001161352.2(KCNMA1):c.1334+19T>C
|
|
|
|
NM_001161352.2(KCNMA1):c.1334+3A>G
|
rs2153792200
|
|
|
NM_001161352.2(KCNMA1):c.1335-14C>G
|
rs781038538
|
|
|
NM_001161352.2(KCNMA1):c.1335-6G>C
|
|
|
|
NM_001161352.2(KCNMA1):c.1335C>T (p.Asn445=)
|
|
|
|
NM_001161352.2(KCNMA1):c.1336A>G (p.Ile446Val)
|
rs2096695305
|
|
|
NM_001161352.2(KCNMA1):c.1339T>C (p.Ser447Pro)
|
|
|
|
NM_001161352.2(KCNMA1):c.1343C>G (p.Pro448Arg)
|
|
|
|
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.135CTCTTC[3] (p.Ser60_Val61insSerSer)
|
|
|
|
NM_001161352.2(KCNMA1):c.1377T>C (p.His459=)
|
|
|
|
NM_001161352.2(KCNMA1):c.138_161del (p.Ser53_Ser60del)
|
rs794726903
|
|
|
NM_001161352.2(KCNMA1):c.13GGC[2] (p.Gly7_Gly10del)
|
rs750804948
|
|
|
NM_001161352.2(KCNMA1):c.13GGC[3] (p.Gly8_Gly10del)
|
rs750804948
|
|
|
NM_001161352.2(KCNMA1):c.13GGC[4] (p.Gly9_Gly10del)
|
rs750804948
|
|
|
NM_001161352.2(KCNMA1):c.13GGC[5] (p.Gly10del)
|
rs750804948
|
|
|
NM_001161352.2(KCNMA1):c.13GGC[7] (p.Gly10dup)
|
rs750804948
|
|
|
NM_001161352.2(KCNMA1):c.13GGC[8] (p.Gly9_Gly10dup)
|
rs750804948
|
|
|
NM_001161352.2(KCNMA1):c.13GGC[9] (p.Gly10_Ser11insGlyGlyGly)
|
|
|
|
NM_001161352.2(KCNMA1):c.1408G>A (p.Val470Ile)
|
|
|
|
NM_001161352.2(KCNMA1):c.1437del (p.Lys480fs)
|
rs2153773364
|
|
|
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.1441-7G>T
|
|
|
|
NM_001161352.2(KCNMA1):c.1441-9G>A
|
|
|
|
NM_001161352.2(KCNMA1):c.1449A>G (p.Ser483=)
|
|
|
|
NM_001161352.2(KCNMA1):c.144TTC[1] (p.Ser58_Ser60del)
|
rs751901610
|
|
|
NM_001161352.2(KCNMA1):c.144TTC[2] (p.Ser59_Ser60del)
|
rs751901610
|
|
|
NM_001161352.2(KCNMA1):c.144TTC[3] (p.Ser60del)
|
rs751901610
|
|
|
NM_001161352.2(KCNMA1):c.144TTC[6] (p.Ser59_Ser60dup)
|
rs751901610
|
|
|
NM_001161352.2(KCNMA1):c.144_170dup (p.Ser60_Val61insSerSerSerSerSerSerSerSerSer)
|
|
|
|
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.147_167dup (p.Ser60_Val61insSerSerSerSerSerSerSer)
|
|
|
|
NM_001161352.2(KCNMA1):c.1491C>G (p.Asp497Glu)
|
rs1381424078
|
|
|
NM_001161352.2(KCNMA1):c.1493C>T (p.Pro498Leu)
|
rs2096653786
|
|
|
NM_001161352.2(KCNMA1):c.14_15insAGG (p.Gly10dup)
|
rs2093907468
|
|
|
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.1515T>A (p.Asn505Lys)
|
|
|
|
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.152C>T (p.Ser51Phe)
|
rs2093884478
|
|
|
NM_001161352.2(KCNMA1):c.153T>C (p.Ser51=)
|
rs200164685
|
|
|
NM_001161352.2(KCNMA1):c.1550C>T (p.Pro517Leu)
|
|
|
|
NM_001161352.2(KCNMA1):c.155C>T (p.Ser52Phe)
|
rs1483499989
|
|
|
NM_001161352.2(KCNMA1):c.156CTC[2] (p.Ser60del)
|
rs778736171
|
|
|
NM_001161352.2(KCNMA1):c.156CTC[4] (p.Ser60_Val61insSer)
|
|
|
|
NM_001161352.2(KCNMA1):c.1585C>T (p.His529Tyr)
|
|
|
|
NM_001161352.2(KCNMA1):c.1586A>G (p.His529Arg)
|
|
|
|
NM_001161352.2(KCNMA1):c.1593+10C>T
|
rs200770082
|
|
|
NM_001161352.2(KCNMA1):c.1593+11G>A
|
|
|
|
NM_001161352.2(KCNMA1):c.1593+11G>T
|
rs199674898
|
|
|
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.1594G>A (p.Ala532Thr)
|
|
|
|
NM_001161352.2(KCNMA1):c.1596C>G (p.Ala532=)
|
|
|
|
NM_001161352.2(KCNMA1):c.15_16insAGC (p.Gly5_Gly6insSer)
|
rs780558929
|
|
|
NM_001161352.2(KCNMA1):c.1600C>T (p.Leu534=)
|
|
|
|
NM_001161352.2(KCNMA1):c.1609A>C (p.Ile537Leu)
|
|
|
|
NM_001161352.2(KCNMA1):c.1612C>G (p.Pro538Ala)
|
|
|
|
NM_001161352.2(KCNMA1):c.1614G>C (p.Pro538=)
|
rs368568833
|
|
|
NM_001161352.2(KCNMA1):c.161C>T (p.Ser54Phe)
|
|
|
|
NM_001161352.2(KCNMA1):c.162_173del (p.Ser57_Ser60del)
|
rs754606765
|
|
|
NM_001161352.2(KCNMA1):c.1635T>C (p.Gly545=)
|
rs112967315
|
|
|
NM_001161352.2(KCNMA1):c.1642G>A (p.Ala548Thr)
|
rs974940310
|
|
|
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.168_179del (p.Ser57_Ser60del)
|
rs1015011962
|
|
|
NM_001161352.2(KCNMA1):c.16_33del (p.Gly6_Ser11del)
|
rs1491384967
|
|
|
NM_001161352.2(KCNMA1):c.16_33dup (p.Gly6_Ser11dup)
|
rs1491384967
|
|
|
NM_001161352.2(KCNMA1):c.1701C>T (p.Gly567=)
|
rs746337315
|
|
|
NM_001161352.2(KCNMA1):c.1712T>C (p.Met571Thr)
|
rs2153710128
|
|
|
NM_001161352.2(KCNMA1):c.1713G>A (p.Met571Ile)
|
|
|
|
NM_001161352.2(KCNMA1):c.1716T>A (p.Leu572=)
|
rs1352985094
|
|
|
NM_001161352.2(KCNMA1):c.171C>T (p.Ser57=)
|
|
|
|
NM_001161352.2(KCNMA1):c.1725C>T (p.Leu575=)
|
|
|
|
NM_001161352.2(KCNMA1):c.1744A>G (p.Ile582Val)
|
|
|
|
NM_001161352.2(KCNMA1):c.1749+2T>C
|
|
|
|
NM_001161352.2(KCNMA1):c.1750-12C>G
|
|
|
|
NM_001161352.2(KCNMA1):c.1750-15_1750-14del
|
rs2153579451
|
|
|
NM_001161352.2(KCNMA1):c.1750-3T>C
|
rs369035808
|
|
|
NM_001161352.2(KCNMA1):c.1752T>A (p.Ile584=)
|
|
|
|
NM_001161352.2(KCNMA1):c.175T>C (p.Ser59Pro)
|
rs2093880726
|
|
|
NM_001161352.2(KCNMA1):c.176C>T (p.Ser59Phe)
|
|
|
|
NM_001161352.2(KCNMA1):c.1783G>A (p.Glu595Lys)
|
rs2094532399
|
|
|
NM_001161352.2(KCNMA1):c.1792T>G (p.Ser598Ala)
|
rs2094532158
|
|
|
NM_001161352.2(KCNMA1):c.1795A>G (p.Asn599Asp)
|
|
|
|
NM_001161352.2(KCNMA1):c.179C>G (p.Ser60Trp)
|
rs768769748
|
|
|
NM_001161352.2(KCNMA1):c.179C>T (p.Ser60Leu)
|
rs768769748
|
|
|
NM_001161352.2(KCNMA1):c.1806C>T (p.Tyr602=)
|
|
|
|
NM_001161352.2(KCNMA1):c.1807A>G (p.Thr603Ala)
|
rs2094531972
|
|
|
NM_001161352.2(KCNMA1):c.180G>C (p.Ser60=)
|
|
|
|
NM_001161352.2(KCNMA1):c.1830C>T (p.Phe610=)
|
|
|
|
NM_001161352.2(KCNMA1):c.1831G>C (p.Val611Leu)
|
rs200668674
|
|
|
NM_001161352.2(KCNMA1):c.1847C>G (p.Pro616Arg)
|
rs2094530696
|
|
|
NM_001161352.2(KCNMA1):c.1848T>C (p.Pro616=)
|
|
|
|
NM_001161352.2(KCNMA1):c.1850C>T (p.Thr617Ile)
|
rs1440636763
|
|
|
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.1860-3C>T
|
|
|
|
NM_001161352.2(KCNMA1):c.1860-7A>G
|
rs766701400
|
|
|
NM_001161352.2(KCNMA1):c.1860G>C (p.Glu620Asp)
|
|
|
|
NM_001161352.2(KCNMA1):c.1869del (p.Phe623fs)
|
|
|
|
NM_001161352.2(KCNMA1):c.186C>G (p.His62Gln)
|
|
|
|
NM_001161352.2(KCNMA1):c.186C>T (p.His62=)
|
|
|
|
NM_001161352.2(KCNMA1):c.1870G>T (p.Val624Leu)
|
rs2153527454
|
|
|
NM_001161352.2(KCNMA1):c.1880A>G (p.Lys627Arg)
|
rs1555142864
|
|
|
NM_001161352.2(KCNMA1):c.1897A>G (p.Ile633Val)
|
|
|
|
NM_001161352.2(KCNMA1):c.1904A>G (p.Tyr635Cys)
|
|
|
|
NM_001161352.2(KCNMA1):c.1909T>G (p.Ser637Ala)
|
rs1409251473
|
|
|
NM_001161352.2(KCNMA1):c.1925G>A (p.Ser642Asn)
|
|
|
|
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.1928G>T (p.Arg643Leu)
|
rs2093602876
|
|
|
NM_001161352.2(KCNMA1):c.1929-19_1929-16del
|
rs764751316
|
|
|
NM_001161352.2(KCNMA1):c.1929-6G>A
|
rs2092525713
|
|
|
NM_001161352.2(KCNMA1):c.1929T>C (p.Arg643=)
|
rs1064797145
|
|
|
NM_001161352.2(KCNMA1):c.1932A>T (p.Ile644=)
|
|
|
|
NM_001161352.2(KCNMA1):c.1936A>G (p.Ile646Val)
|
rs2092524960
|
|
|
NM_001161352.2(KCNMA1):c.1952A>C (p.His651Pro)
|
rs200013065
|
|
|
NM_001161352.2(KCNMA1):c.1952A>T (p.His651Leu)
|
rs200013065
|
|
|
NM_001161352.2(KCNMA1):c.1962C>T (p.Ile654=)
|
|
|
|
NM_001161352.2(KCNMA1):c.1964A>T (p.Gln655Leu)
|
rs2092523707
|
|
|
NM_001161352.2(KCNMA1):c.1965A>G (p.Gln655=)
|
rs1388398269
|
|
|
NM_001161352.2(KCNMA1):c.1989C>G (p.Ile663Met)
|
|
|
|
NM_001161352.2(KCNMA1):c.1989C>T (p.Ile663=)
|
rs201919794
|
|
|
NM_001161352.2(KCNMA1):c.19_33dup (p.Ser11_Ser12insGlyGlyGlyGlySer)
|
|
|
|
NM_001161352.2(KCNMA1):c.1A>G (p.Met1Val)
|
|
|
|
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.2053A>G (p.Thr685Ala)
|
rs1449813631
|
|
|
NM_001161352.2(KCNMA1):c.2053A>T (p.Thr685Ser)
|
|
|
|
NM_001161352.2(KCNMA1):c.2057A>T (p.Asp686Val)
|
rs2153454278
|
|
|
NM_001161352.2(KCNMA1):c.2067A>C (p.Arg689Ser)
|
rs2153454235
|
|
|
NM_001161352.2(KCNMA1):c.2070A>T (p.Ile690=)
|
rs368366851
|
|
|
NM_001161352.2(KCNMA1):c.2078G>A (p.Cys693Tyr)
|
rs2090878635
|
|
|
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+1G>A
|
rs2090875352
|
|
|
NM_001161352.2(KCNMA1):c.2092+20C>T
|
rs2153454081
|
|
|
NM_001161352.2(KCNMA1):c.211A>G (p.Ile71Val)
|
|
|
|
NM_001161352.2(KCNMA1):c.215C>G (p.Pro72Arg)
|
rs2093876319
|
|
|
NM_001161352.2(KCNMA1):c.225G>A (p.Met75Ile)
|
rs1464796627
|
|
|
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.2291T>C (p.Leu764Pro)
|
rs781228418
|
|
|
NM_001161352.2(KCNMA1):c.2302A>G (p.Lys768Glu)
|
|
|
|
NM_001161352.2(KCNMA1):c.2316T>A (p.Asn772Lys)
|
|
|
|
NM_001161352.2(KCNMA1):c.2316T>C (p.Asn772=)
|
rs778997353
|
|
|
NM_001161352.2(KCNMA1):c.2323A>C (p.Met775Leu)
|
|
|
|
NM_001161352.2(KCNMA1):c.2326C>A (p.Arg776=)
|
|
|
|
NM_001161352.2(KCNMA1):c.2327G>A (p.Arg776Gln)
|
rs200676185
|
|
|
NM_001161352.2(KCNMA1):c.2332T>A (p.Ser778Thr)
|
|
|
|
NM_001161352.2(KCNMA1):c.2337C>T (p.Pro779=)
|
|
|
|
NM_001161352.2(KCNMA1):c.2339A>G (p.Asn780Ser)
|
|
|
|
NM_001161352.2(KCNMA1):c.233C>T (p.Pro78Leu)
|
|
|
|
NM_001161352.2(KCNMA1):c.2342C>A (p.Thr781Asn)
|
rs976855600
|
|
|
NM_001161352.2(KCNMA1):c.234G>A (p.Pro78=)
|
rs1027255936
|
|
|
NM_001161352.2(KCNMA1):c.2353C>G (p.Leu785Val)
|
|
|
|
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.2383G>C (p.Gly795Arg)
|
|
|
|
NM_001161352.2(KCNMA1):c.2387A>T (p.Asn796Ile)
|
rs2152988834
|
|
|
NM_001161352.2(KCNMA1):c.2396T>C (p.Ile799Thr)
|
|
|
|
NM_001161352.2(KCNMA1):c.2400C>G (p.Asp800Glu)
|
rs2152988719
|
|
|
NM_001161352.2(KCNMA1):c.2408A>G (p.Asp803Gly)
|
|
|
|
NM_001161352.2(KCNMA1):c.2408A>T (p.Asp803Val)
|
rs2067187945
|
|
|
NM_001161352.2(KCNMA1):c.2411C>T (p.Ser804Phe)
|
rs2152988601
|
|
|
NM_001161352.2(KCNMA1):c.2423A>C (p.Lys808Thr)
|
|
|
|
NM_001161352.2(KCNMA1):c.2423A>G (p.Lys808Arg)
|
rs780661063
|
|
|
NM_001161352.2(KCNMA1):c.243C>T (p.Ser81=)
|
|
|
|
NM_001161352.2(KCNMA1):c.2460C>A (p.Pro820=)
|
|
|
|
NM_001161352.2(KCNMA1):c.2475A>T (p.Lys825Asn)
|
|
|
|
NM_001161352.2(KCNMA1):c.2480T>C (p.Ile827Thr)
|
|
|
|
NM_001161352.2(KCNMA1):c.2481C>A (p.Ile827=)
|
|
|
|
NM_001161352.2(KCNMA1):c.2484+1746C>T
|
|
|
|
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.2485A>G (p.Thr829Ala)
|
|
|
|
NM_001161352.2(KCNMA1):c.2487T>G (p.Thr829=)
|
|
|
|
NM_001161352.2(KCNMA1):c.2488C>T (p.Arg830Ter)
|
rs2065361594
|
|
|
NM_001161352.2(KCNMA1):c.2503A>G (p.Met835Val)
|
rs2065356454
|
|
|
NM_001161352.2(KCNMA1):c.2508C>A (p.Thr836=)
|
rs145100005
|
|
|
NM_001161352.2(KCNMA1):c.2509G>A (p.Val837Ile)
|
|
|
|
NM_001161352.2(KCNMA1):c.2521del (p.His841fs)
|
rs2152944295
|
|
|
NM_001161352.2(KCNMA1):c.2523T>C (p.His841=)
|
|
|
|
NM_001161352.2(KCNMA1):c.2536A>G (p.Ile846Val)
|
|
|
|
NM_001161352.2(KCNMA1):c.253C>A (p.Arg85Ser)
|
rs2154572127
|
|
|
NM_001161352.2(KCNMA1):c.2545G>A (p.Asp849Asn)
|
|
|
|
NM_001161352.2(KCNMA1):c.2547C>A (p.Asp849Glu)
|
rs147369374
|
|
|
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.2572C>T (p.Arg858Trp)
|
rs199681253
|
|
|
NM_001161352.2(KCNMA1):c.2580G>A (p.Leu860=)
|
|
|
|
NM_001161352.2(KCNMA1):c.2583G>A (p.Val861=)
|
|
|
|
NM_001161352.2(KCNMA1):c.2593C>T (p.Arg865Cys)
|
rs1591664697
|
|
|
NM_001161352.2(KCNMA1):c.2629A>G (p.Ile877Val)
|
|
|
|
NM_001161352.2(KCNMA1):c.2649T>C (p.Ile883=)
|
|
|
|
NM_001161352.2(KCNMA1):c.2656C>T (p.Leu886Phe)
|
rs2152943139
|
|
|
NM_001161352.2(KCNMA1):c.2662C>A (p.Arg888=)
|
rs763848235
|
|
|
NM_001161352.2(KCNMA1):c.2681A>G (p.His894Arg)
|
rs2065325262
|
|
|
NM_001161352.2(KCNMA1):c.2681A>T (p.His894Leu)
|
|
|
|
NM_001161352.2(KCNMA1):c.2689C>T (p.Pro897Ser)
|
|
|
|
NM_001161352.2(KCNMA1):c.2701A>C (p.Ile901Leu)
|
rs762661695
|
|
|
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.2709T>C (p.Pro903=)
|
|
|
|
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.2710-19del
|
rs112408409
|
|
|
NM_001161352.2(KCNMA1):c.2710-19dup
|
rs112408409
|
|
|
NM_001161352.2(KCNMA1):c.2710-3A>T
|
rs1214940006
|
|
|
NM_001161352.2(KCNMA1):c.2710-8_2710-7inv
|
|
|
|
NM_001161352.2(KCNMA1):c.2710G>A (p.Gly904Ser)
|
rs2063511193
|
|
|
NM_001161352.2(KCNMA1):c.2714C>G (p.Thr905Arg)
|
rs201192736
|
|
|
NM_001161352.2(KCNMA1):c.2737A>C (p.Arg913=)
|
rs1039986904
|
|
|
NM_001161352.2(KCNMA1):c.2751C>T (p.Ile917=)
|
|
|
|
NM_001161352.2(KCNMA1):c.2783C>T (p.Ala928Val)
|
rs2152885647
|
|
|
NM_001161352.2(KCNMA1):c.2786A>G (p.Asn929Ser)
|
|
|
|
NM_001161352.2(KCNMA1):c.2786del (p.Asn929fs)
|
rs2063502424
|
|
|
NM_001161352.2(KCNMA1):c.2789A>C (p.Gln930Pro)
|
rs2152885532
|
|
|
NM_001161352.2(KCNMA1):c.278C>T (p.Ser93Phe)
|
|
|
|
NM_001161352.2(KCNMA1):c.2791A>G (p.Asn931Asp)
|
|
|
|
NM_001161352.2(KCNMA1):c.2795A>G (p.Asn932Ser)
|
|
|
|
NM_001161352.2(KCNMA1):c.2798T>C (p.Ile933Thr)
|
|
|
|
NM_001161352.2(KCNMA1):c.2799T>C (p.Ile933=)
|
rs2152885437
|
|
|
NM_001161352.2(KCNMA1):c.27_56del (p.Gly13_Ser22del)
|
rs1163075445
|
|
|
NM_001161352.2(KCNMA1):c.27_56dup (p.Ser22_Leu23insGlyGlyGlyGlyGlyGlyGlyGlySerSer)
|
|
|
|
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.2824G>A (p.Glu942Lys)
|
rs1554966197
|
|
|
NM_001161352.2(KCNMA1):c.282C>T (p.Ser94=)
|
|
|
|
NM_001161352.2(KCNMA1):c.283A>G (p.Met95Val)
|
rs762347754
|
|
|
NM_001161352.2(KCNMA1):c.2846A>G (p.Asn949Ser)
|
rs1565091862
|
|
|
NM_001161352.2(KCNMA1):c.2856T>C (p.Ser952=)
|
|
|
|
NM_001161352.2(KCNMA1):c.2868T>C (p.Asp956=)
|
|
|
|
NM_001161352.2(KCNMA1):c.2873G>T (p.Ser958Ile)
|
rs2152884880
|
|
|
NM_001161352.2(KCNMA1):c.2880A>C (p.Gly960=)
|
|
|
|
NM_001161352.2(KCNMA1):c.2881G>A (p.Val961Ile)
|
|
|
|
NM_001161352.2(KCNMA1):c.2898C>T (p.Ser966=)
|
rs2152884640
|
|
|
NM_001161352.2(KCNMA1):c.28G>A (p.Gly10Ser)
|
|
|
|
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.2926A>G (p.Arg976Gly)
|
|
|
|
NM_001161352.2(KCNMA1):c.2933C>T (p.Ser978Phe)
|
|
|
|
NM_001161352.2(KCNMA1):c.2943C>T (p.Asn981=)
|
|
|
|
NM_001161352.2(KCNMA1):c.2948C>G (p.Pro983Arg)
|
|
|
|
NM_001161352.2(KCNMA1):c.2951T>C (p.Val984Ala)
|
|
|
|
NM_001161352.2(KCNMA1):c.2956G>A (p.Gly986Arg)
|
|
|
|
NM_001161352.2(KCNMA1):c.2956G>C (p.Gly986Arg)
|
rs763598041
|
|
|
NM_001161352.2(KCNMA1):c.2974T>G (p.Ser992Ala)
|
|
|
|
NM_001161352.2(KCNMA1):c.2977A>G (p.Ile993Val)
|
|
|
|
NM_001161352.2(KCNMA1):c.297C>T (p.Phe99=)
|
|
|
|
NM_001161352.2(KCNMA1):c.2988G>A (p.Gly996=)
|
|
|
|
NM_001161352.2(KCNMA1):c.298_309del (p.Gly100_Phe103del)
|
rs2093871879
|
|
|
NM_001161352.2(KCNMA1):c.2993A>G (p.Asn998Ser)
|
rs2052158751
|
|
|
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+16_3016+17inv
|
|
|
|
NM_001161352.2(KCNMA1):c.3016+17G>C
|
|
|
|
NM_001161352.2(KCNMA1):c.3016+18C>T
|
|
|
|
NM_001161352.2(KCNMA1):c.3016+2T>C
|
|
|
|
NM_001161352.2(KCNMA1):c.3016+6G>A
|
rs760003715
|
|
|
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.3017T>C (p.Val1006Ala)
|
|
|
|
NM_001161352.2(KCNMA1):c.302dup (p.Leu102fs)
|
rs753408207
|
|
|
NM_001161352.2(KCNMA1):c.3030T>C (p.Asn1010=)
|
rs1590247904
|
|
|
NM_001161352.2(KCNMA1):c.3035A>G (p.Gln1012Arg)
|
rs2049487457
|
|
|
NM_001161352.2(KCNMA1):c.3054T>C (p.Asp1018=)
|
|
|
|
NM_001161352.2(KCNMA1):c.3054TGA[4] (p.Asp1021_Pro1022insAsp)
|
|
|
|
NM_001161352.2(KCNMA1):c.3066T>C (p.Pro1022=)
|
|
|
|
NM_001161352.2(KCNMA1):c.3086C>T (p.Thr1029Met)
|
|
|
|
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.30C>T (p.Gly10=)
|
rs2093904313
|
|
|
NM_001161352.2(KCNMA1):c.30_56del (p.Ser11_Gly19del)
|
rs1163075445
|
|
|
NM_001161352.2(KCNMA1):c.30_56dup (p.Ser11_Gly19dup)
|
rs1163075445
|
|
|
NM_001161352.2(KCNMA1):c.3117C>G (p.Ala1039=)
|
rs544106405
|
|
|
NM_001161352.2(KCNMA1):c.3123T>C (p.Ser1041=)
|
|
|
|
NM_001161352.2(KCNMA1):c.3136C>T (p.Leu1046Phe)
|
|
|
|
NM_001161352.2(KCNMA1):c.3138C>T (p.Leu1046=)
|
rs766964098
|
|
|
NM_001161352.2(KCNMA1):c.3139A>G (p.Met1047Val)
|
|
|
|
NM_001161352.2(KCNMA1):c.3141G>A (p.Met1047Ile)
|
|
|
|
NM_001161352.2(KCNMA1):c.3146C>T (p.Ala1049Val)
|
rs2152363692
|
|
|
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.3149C>T (p.Thr1050Met)
|
rs915080941
|
|
|
NM_001161352.2(KCNMA1):c.3156C>T (p.Phe1052=)
|
|
|
|
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser)
|
rs886039469
|
|
|
NM_001161352.2(KCNMA1):c.3168C>G (p.Ile1056Met)
|
|
|
|
NM_001161352.2(KCNMA1):c.3175C>T (p.Leu1059=)
|
|
|
|
NM_001161352.2(KCNMA1):c.3177G>C (p.Leu1059=)
|
|
|
|
NM_001161352.2(KCNMA1):c.3181C>T (p.Arg1061Trp)
|
|
|
|
NM_001161352.2(KCNMA1):c.3182G>A (p.Arg1061Gln)
|
rs764468883
|
|
|
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.31AGC[1] (p.Ser12del)
|
rs757636988
|
|
|
NM_001161352.2(KCNMA1):c.31AGC[3] (p.Ser12dup)
|
rs757636988
|
|
|
NM_001161352.2(KCNMA1):c.31_34delinsG (p.Ser11_Ser12delinsGly)
|
rs1555528807
|
|
|
NM_001161352.2(KCNMA1):c.31_45del (p.Ser11_Gly15del)
|
rs752334052
|
|
|
NM_001161352.2(KCNMA1):c.31_45dup (p.Gly15_Gly16insSerSerGlyGlyGly)
|
|
|
|
NM_001161352.2(KCNMA1):c.31_48del (p.Ser11_Gly16del)
|
rs759136661
|
|
|
NM_001161352.2(KCNMA1):c.31_48dup (p.Ser11_Gly16dup)
|
rs759136661
|
|
|
NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del)
|
rs1484259264
|
|
|
NM_001161352.2(KCNMA1):c.31_51dup (p.Ser11_Gly17dup)
|
rs1484259264
|
|
|
NM_001161352.2(KCNMA1):c.31_54del (p.Ser11_Gly18del)
|
rs587780364
|
|
|
NM_001161352.2(KCNMA1):c.31_57del (p.Ser11_Gly19del)
|
|
|
|
NM_001161352.2(KCNMA1):c.320T>A (p.Leu107His)
|
|
|
|
NM_001161352.2(KCNMA1):c.3241G>A (p.Ala1081Thr)
|
|
|
|
NM_001161352.2(KCNMA1):c.3259A>G (p.Ser1087Gly)
|
|
|
|
NM_001161352.2(KCNMA1):c.3263C>T (p.Thr1088Ile)
|
rs769712220
|
|
|
NM_001161352.2(KCNMA1):c.3266C>T (p.Pro1089Leu)
|
rs1208962527
|
|
|
NM_001161352.2(KCNMA1):c.327G>T (p.Arg109=)
|
rs762760539
|
|
|
NM_001161352.2(KCNMA1):c.3282T>C (p.Asn1094=)
|
|
|
|
NM_001161352.2(KCNMA1):c.3285G>C (p.Arg1095Ser)
|
|
|
|
NM_001161352.2(KCNMA1):c.3286G>A (p.Asp1096Asn)
|
|
|
|
NM_001161352.2(KCNMA1):c.3289C>T (p.Arg1097Cys)
|
rs2151872034
|
|
|
NM_001161352.2(KCNMA1):c.3290G>A (p.Arg1097His)
|
|
|
|
NM_001161352.2(KCNMA1):c.3302C>T (p.Ala1101Val)
|
|
|
|
NM_001161352.2(KCNMA1):c.3306G>A (p.Gln1102=)
|
rs1253872471
|
|
|
NM_001161352.2(KCNMA1):c.3316C>T (p.Leu1106Phe)
|
rs2151871204
|
|
|
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.334A>G (p.Lys112Glu)
|
|
|
|
NM_001161352.2(KCNMA1):c.336G>A (p.Lys112=)
|
|
|
|
NM_001161352.2(KCNMA1):c.336G>C (p.Lys112Asn)
|
rs748112495
|
|
|
NM_001161352.2(KCNMA1):c.3388T>G (p.Tyr1130Asp)
|
|
|
|
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.3440C>A (p.Thr1147Asn)
|
|
|
|
NM_001161352.2(KCNMA1):c.3440C>T (p.Thr1147Ile)
|
rs1253143924
|
|
|
NM_001161352.2(KCNMA1):c.3441C>G (p.Thr1147=)
|
rs765051720
|
|
|
NM_001161352.2(KCNMA1):c.3443C>G (p.Pro1148Arg)
|
|
|
|
NM_001161352.2(KCNMA1):c.3457A>C (p.Lys1153Gln)
|
rs2151796883
|
|
|
NM_001161352.2(KCNMA1):c.3461+17A>C
|
rs1442317817
|
|
|
NM_001161352.2(KCNMA1):c.3462-9C>T
|
|
|
|
NM_001161352.2(KCNMA1):c.3467T>C (p.Val1156Ala)
|
|
|
|
NM_001161352.2(KCNMA1):c.3480G>A (p.Pro1160=)
|
rs202172473
|
|
|
NM_001161352.2(KCNMA1):c.3480G>T (p.Pro1160=)
|
|
|
|
NM_001161352.2(KCNMA1):c.3485A>G (p.Tyr1162Cys)
|
rs2037618919
|
|
|
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.349G>A (p.Val117Met)
|
rs1257184004
|
|
|
NM_001161352.2(KCNMA1):c.349G>C (p.Val117Leu)
|
|
|
|
NM_001161352.2(KCNMA1):c.34_39del (p.Ser12_Gly13del)
|
rs2093901062
|
|
|
NM_001161352.2(KCNMA1):c.34_39dup (p.Ser12_Gly13dup)
|
rs2093901062
|
|
|
NM_001161352.2(KCNMA1):c.34_48del (p.Ser12_Gly16del)
|
|
|
|
NM_001161352.2(KCNMA1):c.34_54dup (p.Gly18_Gly19insSerGlyGlyGlyGlyGlyGly)
|
|
|
|
NM_001161352.2(KCNMA1):c.352T>G (p.Cys118Gly)
|
rs2154572103
|
|
|
NM_001161352.2(KCNMA1):c.3541A>G (p.Asn1181Asp)
|
|
|
|
NM_001161352.2(KCNMA1):c.3547G>C (p.Gly1183Arg)
|
rs549360933
|
|
|
NM_001161352.2(KCNMA1):c.3549C>T (p.Gly1183=)
|
|
|
|
NM_001161352.2(KCNMA1):c.354C>T (p.Cys118=)
|
rs746678754
|
|
|
NM_001161352.2(KCNMA1):c.3569C>G (p.Ser1190Cys)
|
|
|
|
NM_001161352.2(KCNMA1):c.3571C>T (p.His1191Tyr)
|
rs2151707984
|
|
|
NM_001161352.2(KCNMA1):c.3575C>T (p.Ser1192Phe)
|
|
|
|
NM_001161352.2(KCNMA1):c.3581A>G (p.His1194Arg)
|
rs1589551484
|
|
|
NM_001161352.2(KCNMA1):c.3585G>A (p.Ser1195=)
|
|
|
|
NM_001161352.2(KCNMA1):c.3587C>T (p.Ser1196Leu)
|
|
|
|
NM_001161352.2(KCNMA1):c.3588G>T (p.Ser1196=)
|
|
|
|
NM_001161352.2(KCNMA1):c.3590A>G (p.Gln1197Arg)
|
|
|
|
NM_001161352.2(KCNMA1):c.3598A>T (p.Ser1200Cys)
|
|
|
|
NM_001161352.2(KCNMA1):c.3603G>A (p.Lys1201=)
|
|
|
|
NM_001161352.2(KCNMA1):c.3608G>T (p.Ser1203Ile)
|
|
|
|
NM_001161352.2(KCNMA1):c.3611C>T (p.Ser1204Phe)
|
rs2037569843
|
|
|
NM_001161352.2(KCNMA1):c.3619C>A (p.His1207Asn)
|
rs1476399505
|
|
|
NM_001161352.2(KCNMA1):c.361T>C (p.Cys121Arg)
|
rs1390486916
|
|
|
NM_001161352.2(KCNMA1):c.3621C>T (p.His1207=)
|
rs1589550559
|
|
|
NM_001161352.2(KCNMA1):c.3623C>A (p.Ser1208Tyr)
|
|
|
|
NM_001161352.2(KCNMA1):c.362_363delinsTT (p.Cys121Phe)
|
rs2154572100
|
|
|
NM_001161352.2(KCNMA1):c.3630A>G (p.Pro1210=)
|
|
|
|
NM_001161352.2(KCNMA1):c.3633C>T (p.Ser1211=)
|
|
|
|
NM_001161352.2(KCNMA1):c.3634A>G (p.Thr1212Ala)
|
|
|
|
NM_001161352.2(KCNMA1):c.3641A>G (p.Asn1214Ser)
|
rs1564710775
|
|
|
NM_001161352.2(KCNMA1):c.3643C>T (p.Arg1215Ter)
|
rs769151229
|
|
|
NM_001161352.2(KCNMA1):c.3651C>G (p.Asn1217Lys)
|
|
|
|
NM_001161352.2(KCNMA1):c.3652C>T (p.Arg1218Trp)
|
rs201703516
|
|
|
NM_001161352.2(KCNMA1):c.3661T>A (p.Ser1221Thr)
|
rs1313181359
|
|
|
NM_001161352.2(KCNMA1):c.3664A>G (p.Arg1222Gly)
|
rs199766376
|
|
|
NM_001161352.2(KCNMA1):c.367G>A (p.Gly123Ser)
|
rs1246413912
|
|
|
NM_001161352.2(KCNMA1):c.368G>A (p.Gly123Asp)
|
rs2093865429
|
|
|
NM_001161352.2(KCNMA1):c.3690C>A (p.Tyr1230Ter)
|
rs199569326
|
|
|
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.36CGG[10] (p.Gly18_Gly20dup)
|
rs760628050
|
|
|
NM_001161352.2(KCNMA1):c.36CGG[11] (p.Gly17_Gly20dup)
|
rs760628050
|
|
|
NM_001161352.2(KCNMA1):c.36CGG[4] (p.Gly18_Gly20del)
|
rs760628050
|
|
|
NM_001161352.2(KCNMA1):c.36CGG[6] (p.Gly20del)
|
rs760628050
|
|
|
NM_001161352.2(KCNMA1):c.36CGG[8] (p.Gly20dup)
|
rs760628050
|
|
|
NM_001161352.2(KCNMA1):c.36CGG[9] (p.Gly19_Gly20dup)
|
rs760628050
|
|
|
NM_001161352.2(KCNMA1):c.36_65del (p.Gly13_Ser22del)
|
rs1278021902
|
|
|
NM_001161352.2(KCNMA1):c.374C>T (p.Thr125Met)
|
rs2154572092
|
|
|
NM_001161352.2(KCNMA1):c.378+10G>A
|
|
|
|
NM_001161352.2(KCNMA1):c.378+12_378+13delinsAA
|
|
|
|
NM_001161352.2(KCNMA1):c.378+15G>T
|
|
|
|
NM_001161352.2(KCNMA1):c.378+4A>T
|
|
|
|
NM_001161352.2(KCNMA1):c.378+5C>A
|
rs757766830
|
|
|
NM_001161352.2(KCNMA1):c.378+5C>G
|
rs757766830
|
|
|
NM_001161352.2(KCNMA1):c.378+767C>T
|
|
|
|
NM_001161352.2(KCNMA1):c.378+8G>A
|
|
|
|
NM_001161352.2(KCNMA1):c.379-114292C>G
|
rs2154549804
|
|
|
NM_001161352.2(KCNMA1):c.379-12C>G
|
rs200550652
|
|
|
NM_001161352.2(KCNMA1):c.379-16C>T
|
|
|
|
NM_001161352.2(KCNMA1):c.379-51304del
|
rs2154521818
|
|
|
NM_001161352.2(KCNMA1):c.384C>T (p.Ala128=)
|
|
|
|
NM_001161352.2(KCNMA1):c.389A>G (p.Lys130Arg)
|
|
|
|
NM_001161352.2(KCNMA1):c.396C>A (p.Asn132Lys)
|
|
|
|
NM_001161352.2(KCNMA1):c.399T>A (p.Asn133Lys)
|
rs767525618
|
|
|
NM_001161352.2(KCNMA1):c.399T>C (p.Asn133=)
|
rs767525618
|
|
|
NM_001161352.2(KCNMA1):c.411G>C (p.Gln137His)
|
rs1171292177
|
|
|
NM_001161352.2(KCNMA1):c.412G>A (p.Ala138Thr)
|
|
|
|
NM_001161352.2(KCNMA1):c.418G>A (p.Gly140Ser)
|
|
|
|
NM_001161352.2(KCNMA1):c.419G>T (p.Gly140Val)
|
rs1566617381
|
|
|
NM_001161352.2(KCNMA1):c.428A>C (p.Lys143Thr)
|
|
|
|
NM_001161352.2(KCNMA1):c.432A>C (p.Pro144=)
|
|
|
|
NM_001161352.2(KCNMA1):c.436G>A (p.Asp146Asn)
|
|
|
|
NM_001161352.2(KCNMA1):c.441A>T (p.Glu147Asp)
|
rs2154465169
|
|
|
NM_001161352.2(KCNMA1):c.447G>C (p.Glu149Asp)
|
rs896386800
|
|
|
NM_001161352.2(KCNMA1):c.44G>A (p.Gly15Asp)
|
|
|
|
NM_001161352.2(KCNMA1):c.450G>A (p.Glu150=)
|
|
|
|
NM_001161352.2(KCNMA1):c.452C>T (p.Ala151Val)
|
|
|
|
NM_001161352.2(KCNMA1):c.454G>A (p.Val152Met)
|
rs2096373042
|
|
|
NM_001161352.2(KCNMA1):c.455T>C (p.Val152Ala)
|
|
|
|
NM_001161352.2(KCNMA1):c.458C>T (p.Ala153Val)
|
|
|
|
NM_001161352.2(KCNMA1):c.460G>A (p.Ala154Thr)
|
rs142858967
|
|
|
NM_001161352.2(KCNMA1):c.460G>T (p.Ala154Ser)
|
rs142858967
|
|
|
NM_001161352.2(KCNMA1):c.463G>A (p.Glu155Lys)
|
|
|
|
NM_001161352.2(KCNMA1):c.466G>A (p.Val156Ile)
|
|
|
|
NM_001161352.2(KCNMA1):c.466G>C (p.Val156Leu)
|
|
|
|
NM_001161352.2(KCNMA1):c.468C>G (p.Val156=)
|
|
|
|
NM_001161352.2(KCNMA1):c.469G>C (p.Gly157Arg)
|
rs767576877
|
|
|
NM_001161352.2(KCNMA1):c.46G>A (p.Gly16Ser)
|
|
|
|
NM_001161352.2(KCNMA1):c.474G>C (p.Trp158Cys)
|
|
|
|
NM_001161352.2(KCNMA1):c.484G>A (p.Val162Met)
|
|
|
|
NM_001161352.2(KCNMA1):c.499G>C (p.Gly167Arg)
|
rs2096371606
|
|
|
NM_001161352.2(KCNMA1):c.49G>C (p.Gly17Arg)
|
rs886047269
|
|
|
NM_001161352.2(KCNMA1):c.504G>A (p.Val168=)
|
rs2154465069
|
|
|
NM_001161352.2(KCNMA1):c.506T>C (p.Met169Thr)
|
rs2154465065
|
|
|
NM_001161352.2(KCNMA1):c.507G>T (p.Met169Ile)
|
|
|
|
NM_001161352.2(KCNMA1):c.514G>A (p.Ala172Thr)
|
rs2096371289
|
|
|
NM_001161352.2(KCNMA1):c.51C>T (p.Gly17=)
|
rs2093897739
|
|
|
NM_001161352.2(KCNMA1):c.52_60dup (p.Gly20_Ser21insGlyGlyGly)
|
|
|
|
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.541G>A (p.Val181Ile)
|
|
|
|
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.559C>G (p.Leu187Val)
|
rs2059603910
|
|
|
NM_001161352.2(KCNMA1):c.55G>A (p.Gly19Arg)
|
rs2154572188
|
|
|
NM_001161352.2(KCNMA1):c.55_60dup (p.Gly19_Gly20dup)
|
rs1350200278
|
|
|
NM_001161352.2(KCNMA1):c.55_63dup (p.Ser21_Ser22insGlyGlySer)
|
|
|
|
NM_001161352.2(KCNMA1):c.568G>A (p.Gly190Ser)
|
|
|
|
NM_001161352.2(KCNMA1):c.574C>A (p.Leu192Ile)
|
rs2154251764
|
|
|
NM_001161352.2(KCNMA1):c.584A>C (p.Tyr195Ser)
|
|
|
|
NM_001161352.2(KCNMA1):c.589A>G (p.Ile197Val)
|
|
|
|
NM_001161352.2(KCNMA1):c.602+12634G>C
|
|
|
|
NM_001161352.2(KCNMA1):c.602+17A>G
|
|
|
|
NM_001161352.2(KCNMA1):c.603-19dup
|
rs2154127967
|
|
|
NM_001161352.2(KCNMA1):c.603-6T>C
|
rs201637862
|
|
|
NM_001161352.2(KCNMA1):c.603-9_603-6del
|
rs761537725
|
|
|
NM_001161352.2(KCNMA1):c.608T>C (p.Ile203Thr)
|
rs2154127879
|
|
|
NM_001161352.2(KCNMA1):c.626T>C (p.Phe209Ser)
|
rs1598200324
|
|
|
NM_001161352.2(KCNMA1):c.644T>C (p.Leu215Ser)
|
|
|
|
NM_001161352.2(KCNMA1):c.657G>A (p.Met219Ile)
|
rs2098835683
|
|
|
NM_001161352.2(KCNMA1):c.659C>T (p.Ala220Val)
|
rs7921386
|
|
|
NM_001161352.2(KCNMA1):c.688G>A (p.Gly230Ser)
|
|
|
|
NM_001161352.2(KCNMA1):c.68T>A (p.Leu23His)
|
|
|
|
NM_001161352.2(KCNMA1):c.690C>G (p.Gly230=)
|
rs1467313801
|
|
|
NM_001161352.2(KCNMA1):c.694C>T (p.Arg232Trp)
|
|
|
|
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.700A>T (p.Ile234Phe)
|
rs2154124891
|
|
|
NM_001161352.2(KCNMA1):c.712G>A (p.Asp238Asn)
|
|
|
|
NM_001161352.2(KCNMA1):c.718T>C (p.Leu240=)
|
|
|
|
NM_001161352.2(KCNMA1):c.726C>T (p.Phe242=)
|
|
|
|
NM_001161352.2(KCNMA1):c.733G>C (p.Glu245Gln)
|
|
|
|
NM_001161352.2(KCNMA1):c.735A>G (p.Glu245=)
|
|
|
|
NM_001161352.2(KCNMA1):c.741C>A (p.Asn247Lys)
|
rs2098818815
|
|
|
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.761C>T (p.Thr254Met)
|
|
|
|
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.802T>C (p.Trp268Arg)
|
rs2098818535
|
|
|
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.809G>A (p.Gly270Asp)
|
rs1554841751
|
|
|
NM_001161352.2(KCNMA1):c.813G>C (p.Leu271Phe)
|
rs2097580642
|
|
|
NM_001161352.2(KCNMA1):c.831G>C (p.Leu277=)
|
|
|
|
NM_001161352.2(KCNMA1):c.85A>T (p.Ile29Phe)
|
|
|
|
NM_001161352.2(KCNMA1):c.868A>C (p.Asn290His)
|
|
|
|
NM_001161352.2(KCNMA1):c.87C>G (p.Ile29Met)
|
|
|
|
NM_001161352.2(KCNMA1):c.884+13T>C
|
|
|
|
NM_001161352.2(KCNMA1):c.884+6A>T
|
rs2097580351
|
|
|
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.88C>T (p.His30Tyr)
|
|
|
|
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.91G>T (p.Ala31Ser)
|
rs1343575385
|
|
|
NM_001161352.2(KCNMA1):c.92C>T (p.Ala31Val)
|
rs201551432
|
|
|
NM_001161352.2(KCNMA1):c.958T>C (p.Leu320=)
|
|
|
|
NM_001161352.2(KCNMA1):c.960+5_960+8dup
|
|
|
|
NM_001161352.2(KCNMA1):c.961-17T>C
|
|
|
|
NM_001161352.2(KCNMA1):c.972A>G (p.Ser324=)
|
|
|
|
NM_001161352.2(KCNMA1):c.97C>T (p.His33Tyr)
|
rs2093891400
|
|
|
NM_001161352.2(KCNMA1):c.993C>T (p.Phe331=)
|
rs1596161285
|
|
|
NM_001161352.2(KCNMA1):c.996A>G (p.Gln332=)
|
|
|
|
NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu)
|
rs765965968
|
|
|
NM_001242896.3(DEPDC5):c.1010C>G (p.Thr337Arg)
|
rs1037878155
|
|
|
NM_001242896.3(DEPDC5):c.1018G>T (p.Val340Leu)
|
|
|
|
NM_001242896.3(DEPDC5):c.1018del (p.Val340fs)
|
rs1601970168
|
|
|
NM_001242896.3(DEPDC5):c.1022G>T (p.Gly341Val)
|
|
|
|
NM_001242896.3(DEPDC5):c.1036G>A (p.Asp346Asn)
|
rs372461930
|
|
|
NM_001242896.3(DEPDC5):c.1036G>C (p.Asp346His)
|
rs372461930
|
|
|
NM_001242896.3(DEPDC5):c.1038C>G (p.Asp346Glu)
|
rs1394753838
|
|
|
NM_001242896.3(DEPDC5):c.1054C>T (p.Leu352=)
|
rs753373012
|
|
|
NM_001242896.3(DEPDC5):c.1055T>C (p.Leu352Pro)
|
|
|
|
NM_001242896.3(DEPDC5):c.1064A>G (p.Gln355Arg)
|
|
|
|
NM_001242896.3(DEPDC5):c.1066C>T (p.Arg356Trp)
|
|
|
|
NM_001242896.3(DEPDC5):c.1071G>A (p.Met357Ile)
|
|
|
|
NM_001242896.3(DEPDC5):c.1074A>G (p.Ile358Met)
|
rs1161069560
|
|
|
NM_001242896.3(DEPDC5):c.1081+18G>A
|
|
|
|
NM_001242896.3(DEPDC5):c.1081+2T>G
|
rs1601970824
|
|
|
NM_001242896.3(DEPDC5):c.1081+4A>G
|
rs757563918
|
|
|
NM_001242896.3(DEPDC5):c.1082-11T>C
|
|
|
|
NM_001242896.3(DEPDC5):c.1082-3dup
|
rs766994249
|
|
|
NM_001242896.3(DEPDC5):c.1082-6T>C
|
rs2148649145
|
|
|
NM_001242896.3(DEPDC5):c.1082-8T>G
|
rs890092330
|
|
|
NM_001242896.3(DEPDC5):c.1093_1099dup (p.Val367fs)
|
rs886039258
|
|
|
NM_001242896.3(DEPDC5):c.1101G>A (p.Val367=)
|
|
|
|
NM_001242896.3(DEPDC5):c.1111G>A (p.Glu371Lys)
|
|
|
|
NM_001242896.3(DEPDC5):c.1111G>T (p.Glu371Ter)
|
|
|
|
NM_001242896.3(DEPDC5):c.1114C>T (p.Gln372Ter)
|
rs886039259
|
|
|
NM_001242896.3(DEPDC5):c.1118C>A (p.Pro373Gln)
|
rs2148649494
|
|
|
NM_001242896.3(DEPDC5):c.1121_1122dup (p.His375fs)
|
rs2087209471
|
|
|
NM_001242896.3(DEPDC5):c.1122del (p.Leu374fs)
|
rs879255234
|
|
|
NM_001242896.3(DEPDC5):c.1123C>T (p.His375Tyr)
|
|
|
|
NM_001242896.3(DEPDC5):c.1124A>G (p.His375Arg)
|
rs748422973
|
|
|
NM_001242896.3(DEPDC5):c.1133del (p.Pro378fs)
|
rs1568955379
|
|
|
NM_001242896.3(DEPDC5):c.1139del (p.Phe380fs)
|
rs2148649693
|
|
|
NM_001242896.3(DEPDC5):c.113T>C (p.Ile38Thr)
|
|
|
|
NM_001242896.3(DEPDC5):c.1142A>G (p.Lys381Arg)
|
|
|
|
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.1143+1G>A
|
rs2148649751
|
|
|
NM_001242896.3(DEPDC5):c.1143+2T>C
|
|
|
|
NM_001242896.3(DEPDC5):c.1143+6T>G
|
rs746751382
|
|
|
NM_001242896.3(DEPDC5):c.1144-19C>G
|
|
|
|
NM_001242896.3(DEPDC5):c.1144-9T>G
|
|
|
|
NM_001242896.3(DEPDC5):c.1155del (p.Ser386fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.1159G>A (p.Ala387Thr)
|
|
|
|
NM_001242896.3(DEPDC5):c.1159G>C (p.Ala387Pro)
|
|
|
|
NM_001242896.3(DEPDC5):c.1160C>T (p.Ala387Val)
|
rs1054663967
|
|
|
NM_001242896.3(DEPDC5):c.1162C>T (p.Pro388Ser)
|
|
|
|
NM_001242896.3(DEPDC5):c.1168G>A (p.Asp390Asn)
|
|
|
|
NM_001242896.3(DEPDC5):c.1169A>G (p.Asp390Gly)
|
|
|
|
NM_001242896.3(DEPDC5):c.1174C>T (p.Arg392Cys)
|
rs1028964149
|
|
|
NM_001242896.3(DEPDC5):c.1175G>A (p.Arg392His)
|
|
|
|
NM_001242896.3(DEPDC5):c.1175G>C (p.Arg392Pro)
|
|
|
|
NM_001242896.3(DEPDC5):c.1183G>A (p.Asp395Asn)
|
|
|
|
NM_001242896.3(DEPDC5):c.1190A>G (p.Tyr397Cys)
|
|
|
|
NM_001242896.3(DEPDC5):c.1191T>A (p.Tyr397Ter)
|
rs1320510912
|
|
|
NM_001242896.3(DEPDC5):c.1191T>C (p.Tyr397=)
|
rs1320510912
|
|
|
NM_001242896.3(DEPDC5):c.1202A>G (p.His401Arg)
|
|
|
|
NM_001242896.3(DEPDC5):c.1206G>A (p.Trp402Ter)
|
|
|
|
NM_001242896.3(DEPDC5):c.1209A>T (p.Ile403=)
|
rs2148656425
|
|
|
NM_001242896.3(DEPDC5):c.1214A>G (p.His405Arg)
|
|
|
|
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.1218-13G>C
|
|
|
|
NM_001242896.3(DEPDC5):c.1218-13_1218-10del
|
rs150103661
|
|
|
NM_001242896.3(DEPDC5):c.1218-14T>G
|
|
|
|
NM_001242896.3(DEPDC5):c.1218-1G>A
|
rs2087504321
|
|
|
NM_001242896.3(DEPDC5):c.1218-1G>C
|
rs2087504321
|
|
|
NM_001242896.3(DEPDC5):c.1218-5del
|
rs758572377
|
|
|
NM_001242896.3(DEPDC5):c.1223A>G (p.Tyr408Cys)
|
rs1602010347
|
|
|
NM_001242896.3(DEPDC5):c.1224C>A (p.Tyr408Ter)
|
rs1602010382
|
|
|
NM_001242896.3(DEPDC5):c.1225del (p.Thr409fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.1234A>G (p.Ser412Gly)
|
|
|
|
NM_001242896.3(DEPDC5):c.1234_1235delinsTA (p.Ser412Tyr)
|
rs1602010588
|
|
|
NM_001242896.3(DEPDC5):c.1235del (p.Ser412fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.1245T>C (p.Phe415=)
|
rs1555880783
|
|
|
NM_001242896.3(DEPDC5):c.1247G>T (p.Cys416Phe)
|
rs767747105
|
|
|
NM_001242896.3(DEPDC5):c.1249A>G (p.Asn417Asp)
|
rs763518514
|
|
|
NM_001242896.3(DEPDC5):c.1249A>T (p.Asn417Tyr)
|
rs763518514
|
|
|
NM_001242896.3(DEPDC5):c.1250A>G (p.Asn417Ser)
|
rs2148665599
|
|
|
NM_001242896.3(DEPDC5):c.1253G>T (p.Ser418Ile)
|
rs2087510561
|
|
|
NM_001242896.3(DEPDC5):c.1264C>T (p.Arg422Ter)
|
rs757511744
|
|
|
NM_001242896.3(DEPDC5):c.1269A>G (p.Ile423Met)
|
rs778795541
|
|
|
NM_001242896.3(DEPDC5):c.1274T>C (p.Leu425Pro)
|
rs2148665735
|
|
|
NM_001242896.3(DEPDC5):c.1277_1280del (p.Ala426fs)
|
rs1568963062
|
|
|
NM_001242896.3(DEPDC5):c.1287+12T>C
|
rs2148665886
|
|
|
NM_001242896.3(DEPDC5):c.1287+15_1287+16del
|
rs2148665907
|
|
|
NM_001242896.3(DEPDC5):c.1287+16T>G
|
|
|
|
NM_001242896.3(DEPDC5):c.1287+19T>G
|
rs2148665931
|
|
|
NM_001242896.3(DEPDC5):c.1287+1G>A
|
|
|
|
NM_001242896.3(DEPDC5):c.1287+4G>C
|
|
|
|
NM_001242896.3(DEPDC5):c.1288-14A>G
|
|
|
|
NM_001242896.3(DEPDC5):c.1291G>A (p.Ala431Thr)
|
rs777844378
|
|
|
NM_001242896.3(DEPDC5):c.129C>A (p.His43Gln)
|
|
|
|
NM_001242896.3(DEPDC5):c.130C>T (p.Pro44Ser)
|
|
|
|
NM_001242896.3(DEPDC5):c.1311T>C (p.Asn437=)
|
rs2148698840
|
|
|
NM_001242896.3(DEPDC5):c.1312G>A (p.Gly438Ser)
|
|
|
|
NM_001242896.3(DEPDC5):c.1316G>A (p.Arg439His)
|
|
|
|
NM_001242896.3(DEPDC5):c.1317T>C (p.Arg439=)
|
rs2148698922
|
|
|
NM_001242896.3(DEPDC5):c.1324+1G>A
|
rs2088011240
|
|
|
NM_001242896.3(DEPDC5):c.1324+1G>T
|
rs2088011240
|
|
|
NM_001242896.3(DEPDC5):c.1324+20T>C
|
|
|
|
NM_001242896.3(DEPDC5):c.1324+25dup
|
|
|
|
NM_001242896.3(DEPDC5):c.1324+5G>A
|
|
|
|
NM_001242896.3(DEPDC5):c.1325-12T>A
|
|
|
|
NM_001242896.3(DEPDC5):c.1325-1G>A
|
rs1555882867
|
|
|
NM_001242896.3(DEPDC5):c.1325-1G>C
|
rs1555882867
|
|
|
NM_001242896.3(DEPDC5):c.1325-2A>G
|
rs2148707066
|
|
|
NM_001242896.3(DEPDC5):c.1325-2_1360del
|
|
|
|
NM_001242896.3(DEPDC5):c.132dup (p.Asn45fs)
|
rs886039244
|
|
|
NM_001242896.3(DEPDC5):c.1365C>T (p.Ile455=)
|
rs773296785
|
|
|
NM_001242896.3(DEPDC5):c.1366C>T (p.Gln456Ter)
|
rs2148707379
|
|
|
NM_001242896.3(DEPDC5):c.1369G>A (p.Val457Ile)
|
|
|
|
NM_001242896.3(DEPDC5):c.1374T>A (p.Asp458Glu)
|
|
|
|
NM_001242896.3(DEPDC5):c.137A>T (p.Asp46Val)
|
|
|
|
NM_001242896.3(DEPDC5):c.1382C>T (p.Ala461Val)
|
rs2148707510
|
|
|
NM_001242896.3(DEPDC5):c.1383C>T (p.Ala461=)
|
|
|
|
NM_001242896.3(DEPDC5):c.1384T>C (p.Tyr462His)
|
rs2148707527
|
|
|
NM_001242896.3(DEPDC5):c.1385_1386del (p.Ala461_Tyr462insTer)
|
rs1555882921
|
|
|
NM_001242896.3(DEPDC5):c.138T>C (p.Asp46=)
|
|
|
|
NM_001242896.3(DEPDC5):c.1390G>A (p.Ala464Thr)
|
|
|
|
NM_001242896.3(DEPDC5):c.1395dup (p.Val466fs)
|
rs2088167973
|
|
|
NM_001242896.3(DEPDC5):c.1397del (p.Val466fs)
|
|
|
|
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.1401del (p.Phe467fs)
|
rs2148707724
|
|
|
NM_001242896.3(DEPDC5):c.140A>G (p.Glu47Gly)
|
rs2082129391
|
|
|
NM_001242896.3(DEPDC5):c.1412G>A (p.Gly471Asp)
|
rs1351408059
|
|
|
NM_001242896.3(DEPDC5):c.1414C>T (p.Pro472Ser)
|
|
|
|
NM_001242896.3(DEPDC5):c.1420C>T (p.Arg474Trp)
|
|
|
|
NM_001242896.3(DEPDC5):c.1422G>A (p.Arg474=)
|
|
|
|
NM_001242896.3(DEPDC5):c.1425C>T (p.Ala475=)
|
|
|
|
NM_001242896.3(DEPDC5):c.1431C>A (p.Cys477Ter)
|
rs2148708041
|
|
|
NM_001242896.3(DEPDC5):c.1432C>G (p.Leu478Val)
|
|
|
|
NM_001242896.3(DEPDC5):c.1436C>T (p.Thr479Ile)
|
rs1602054541
|
|
|
NM_001242896.3(DEPDC5):c.1439C>T (p.Thr480Ile)
|
|
|
|
NM_001242896.3(DEPDC5):c.1441T>C (p.Cys481Arg)
|
rs2148708095
|
|
|
NM_001242896.3(DEPDC5):c.1442G>T (p.Cys481Phe)
|
rs2088176060
|
|
|
NM_001242896.3(DEPDC5):c.1443C>T (p.Cys481=)
|
|
|
|
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.1445+1G>A
|
|
|
|
NM_001242896.3(DEPDC5):c.1445+5T>G
|
rs894048763
|
|
|
NM_001242896.3(DEPDC5):c.1445+6C>G
|
rs1275802105
|
|
|
NM_001242896.3(DEPDC5):c.1446-12C>T
|
|
|
|
NM_001242896.3(DEPDC5):c.1446-13T>C
|
|
|
|
NM_001242896.3(DEPDC5):c.1446-1G>T
|
rs1555885023
|
|
|
NM_001242896.3(DEPDC5):c.1446-3C>T
|
|
|
|
NM_001242896.3(DEPDC5):c.1449T>C (p.Ser483=)
|
rs1461464062
|
|
|
NM_001242896.3(DEPDC5):c.1453C>T (p.Arg485Ter)
|
rs1568991466
|
|
|
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.1465_1466del (p.His490fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.147-10T>G
|
rs1168103303
|
|
|
NM_001242896.3(DEPDC5):c.147-17G>A
|
|
|
|
NM_001242896.3(DEPDC5):c.147-1G>C
|
|
|
|
NM_001242896.3(DEPDC5):c.147-2A>C
|
rs2148027312
|
|
|
NM_001242896.3(DEPDC5):c.147-3C>G
|
rs1398851556
|
|
|
NM_001242896.3(DEPDC5):c.147-9_147-6del
|
rs2148027104
|
|
|
NM_001242896.3(DEPDC5):c.1470C>T (p.His490=)
|
|
|
|
NM_001242896.3(DEPDC5):c.1471A>C (p.Ser491Arg)
|
rs2148758633
|
|
|
NM_001242896.3(DEPDC5):c.1474C>T (p.Arg492Ter)
|
rs1057519107
|
|
|
NM_001242896.3(DEPDC5):c.1488del (p.Ser497fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.1490C>G (p.Ser497Cys)
|
|
|
|
NM_001242896.3(DEPDC5):c.1493_1500del (p.Cys498fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.14A>G (p.Lys5Arg)
|
|
|
|
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.1520C>G (p.Pro507Arg)
|
|
|
|
NM_001242896.3(DEPDC5):c.1526G>A (p.Arg509His)
|
rs372489331
|
|
|
NM_001242896.3(DEPDC5):c.1526G>T (p.Arg509Leu)
|
rs372489331
|
|
|
NM_001242896.3(DEPDC5):c.1538C>T (p.Thr513Ile)
|
|
|
|
NM_001242896.3(DEPDC5):c.1549A>G (p.Arg517Gly)
|
|
|
|
NM_001242896.3(DEPDC5):c.1555C>T (p.Gln519Ter)
|
rs886039261
|
|
|
NM_001242896.3(DEPDC5):c.1557G>C (p.Gln519His)
|
rs2148759335
|
|
|
NM_001242896.3(DEPDC5):c.155T>A (p.Leu52His)
|
rs2148027396
|
|
|
NM_001242896.3(DEPDC5):c.1566C>A (p.Asp522Glu)
|
|
|
|
NM_001242896.3(DEPDC5):c.1573T>C (p.Ser525Pro)
|
rs369966456
|
|
|
NM_001242896.3(DEPDC5):c.1576C>T (p.Leu526=)
|
rs2148759529
|
|
|
NM_001242896.3(DEPDC5):c.1580G>T (p.Gly527Val)
|
|
|
|
NM_001242896.3(DEPDC5):c.1581C>G (p.Gly527=)
|
rs2148759571
|
|
|
NM_001242896.3(DEPDC5):c.1589C>T (p.Ala530Val)
|
rs2148759614
|
|
|
NM_001242896.3(DEPDC5):c.158del (p.Leu53fs)
|
rs2148027425
|
|
|
NM_001242896.3(DEPDC5):c.1590C>T (p.Ala530=)
|
|
|
|
NM_001242896.3(DEPDC5):c.1607C>A (p.Pro536Gln)
|
|
|
|
NM_001242896.3(DEPDC5):c.1617C>T (p.His539=)
|
|
|
|
NM_001242896.3(DEPDC5):c.1625A>C (p.Gln542Pro)
|
rs886039279
|
|
|
NM_001242896.3(DEPDC5):c.1635C>G (p.Val545=)
|
|
|
|
NM_001242896.3(DEPDC5):c.1640G>A (p.Ser547Asn)
|
rs1483477312
|
|
|
NM_001242896.3(DEPDC5):c.1640G>C (p.Ser547Thr)
|
rs1483477312
|
|
|
NM_001242896.3(DEPDC5):c.1642T>C (p.Ser548Pro)
|
rs2148760176
|
|
|
NM_001242896.3(DEPDC5):c.1647G>C (p.Leu549Phe)
|
rs2148760235
|
|
|
NM_001242896.3(DEPDC5):c.1657A>G (p.Ser553Gly)
|
rs1555885142
|
|
|
NM_001242896.3(DEPDC5):c.1659C>T (p.Ser553=)
|
|
|
|
NM_001242896.3(DEPDC5):c.1663C>G (p.Arg555Gly)
|
|
|
|
NM_001242896.3(DEPDC5):c.1666+22_1666+25del
|
|
|
|
NM_001242896.3(DEPDC5):c.1666+6A>G
|
rs1323258551
|
|
|
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.1673T>C (p.Leu558Pro)
|
rs2089433234
|
|
|
NM_001242896.3(DEPDC5):c.1677G>A (p.Glu559=)
|
rs2148801169
|
|
|
NM_001242896.3(DEPDC5):c.1681A>G (p.Met561Val)
|
|
|
|
NM_001242896.3(DEPDC5):c.1683G>C (p.Met561Ile)
|
|
|
|
NM_001242896.3(DEPDC5):c.1684A>G (p.Met562Val)
|
|
|
|
NM_001242896.3(DEPDC5):c.1695A>G (p.Pro565=)
|
|
|
|
NM_001242896.3(DEPDC5):c.1696del (p.Gln566fs)
|
rs2148801285
|
|
|
NM_001242896.3(DEPDC5):c.1697A>G (p.Gln566Arg)
|
|
|
|
NM_001242896.3(DEPDC5):c.1699C>T (p.Arg567Ter)
|
|
|
|
NM_001242896.3(DEPDC5):c.170C>A (p.Ser57Tyr)
|
rs2148027642
|
|
|
NM_001242896.3(DEPDC5):c.1710T>C (p.Ser570=)
|
|
|
|
NM_001242896.3(DEPDC5):c.1725dup (p.His576fs)
|
rs2148801432
|
|
|
NM_001242896.3(DEPDC5):c.1729G>C (p.Val577Leu)
|
|
|
|
NM_001242896.3(DEPDC5):c.1736_1743del (p.Ser579fs)
|
rs2148801562
|
|
|
NM_001242896.3(DEPDC5):c.1749G>A (p.Met583Ile)
|
|
|
|
NM_001242896.3(DEPDC5):c.1759C>T (p.Arg587Ter)
|
rs886039263
|
|
|
NM_001242896.3(DEPDC5):c.175A>G (p.Lys59Glu)
|
|
|
|
NM_001242896.3(DEPDC5):c.1764T>A (p.Pro588=)
|
|
|
|
NM_001242896.3(DEPDC5):c.1766G>A (p.Gly589Asp)
|
rs2148801784
|
|
|
NM_001242896.3(DEPDC5):c.176dup (p.Glu60fs)
|
rs2148027688
|
|
|
NM_001242896.3(DEPDC5):c.1774_1775del (p.Thr592fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.1776G>A (p.Thr592=)
|
|
|
|
NM_001242896.3(DEPDC5):c.1786G>A (p.Ala596Thr)
|
|
|
|
NM_001242896.3(DEPDC5):c.178del (p.Glu60fs)
|
rs2148027711
|
|
|
NM_001242896.3(DEPDC5):c.1795A>T (p.Asn599Tyr)
|
|
|
|
NM_001242896.3(DEPDC5):c.1800del (p.Phe601fs)
|
rs2148802008
|
|
|
NM_001242896.3(DEPDC5):c.1811C>T (p.Ser604Phe)
|
|
|
|
NM_001242896.3(DEPDC5):c.1813C>T (p.Arg605Trp)
|
rs1335111412
|
|
|
NM_001242896.3(DEPDC5):c.1814G>A (p.Arg605Gln)
|
rs760696765
|
|
|
NM_001242896.3(DEPDC5):c.1828C>A (p.Leu610Ile)
|
rs2089444709
|
|
|
NM_001242896.3(DEPDC5):c.1834_1835del (p.Ser612fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.1838A>G (p.Asn613Ser)
|
rs2089445867
|
|
|
NM_001242896.3(DEPDC5):c.1840A>T (p.Arg614Ter)
|
|
|
|
NM_001242896.3(DEPDC5):c.1845del (p.Arg615fs)
|
rs1060501487
|
|
|
NM_001242896.3(DEPDC5):c.1858A>G (p.Thr620Ala)
|
|
|
|
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.1870G>C (p.Gly624Arg)
|
|
|
|
NM_001242896.3(DEPDC5):c.1871-11dup
|
|
|
|
NM_001242896.3(DEPDC5):c.1871-20G>A
|
rs1569012086
|
|
|
NM_001242896.3(DEPDC5):c.1871-8C>G
|
|
|
|
NM_001242896.3(DEPDC5):c.1871_1872delinsAT (p.Gly624Asp)
|
|
|
|
NM_001242896.3(DEPDC5):c.1877C>A (p.Ser626Tyr)
|
rs2089694690
|
|
|
NM_001242896.3(DEPDC5):c.1878C>G (p.Ser626=)
|
rs577982097
|
|
|
NM_001242896.3(DEPDC5):c.1878C>T (p.Ser626=)
|
|
|
|
NM_001242896.3(DEPDC5):c.187C>T (p.Gln63Ter)
|
rs372718805
|
|
|
NM_001242896.3(DEPDC5):c.1890C>G (p.Ile630Met)
|
|
|
|
NM_001242896.3(DEPDC5):c.1891C>T (p.Gln631Ter)
|
rs2148821385
|
|
|
NM_001242896.3(DEPDC5):c.1891del (p.Gln631fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.18C>T (p.Val6=)
|
|
|
|
NM_001242896.3(DEPDC5):c.1902C>T (p.His634=)
|
rs2148821439
|
|
|
NM_001242896.3(DEPDC5):c.1910G>A (p.Arg637Gln)
|
rs751767527
|
|
|
NM_001242896.3(DEPDC5):c.1910G>T (p.Arg637Leu)
|
|
|
|
NM_001242896.3(DEPDC5):c.1911A>G (p.Arg637=)
|
|
|
|
NM_001242896.3(DEPDC5):c.1921G>A (p.Ala641Thr)
|
|
|
|
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.193+15_193+18del
|
rs2148028253
|
|
|
NM_001242896.3(DEPDC5):c.193+1G>A
|
rs886039245
|
|
|
NM_001242896.3(DEPDC5):c.193+3A>G
|
rs2148027911
|
|
|
NM_001242896.3(DEPDC5):c.193+5G>A
|
rs2082316143
|
|
|
NM_001242896.3(DEPDC5):c.193+5G>T
|
|
|
|
NM_001242896.3(DEPDC5):c.1932A>C (p.Gln644His)
|
|
|
|
NM_001242896.3(DEPDC5):c.1934G>A (p.Gly645Asp)
|
rs1342507454
|
|
|
NM_001242896.3(DEPDC5):c.1936dup (p.Ser646fs)
|
rs1569012755
|
|
|
NM_001242896.3(DEPDC5):c.1937G>A (p.Ser646Asn)
|
|
|
|
NM_001242896.3(DEPDC5):c.1939G>A (p.Gly647Arg)
|
|
|
|
NM_001242896.3(DEPDC5):c.194-19G>A
|
|
|
|
NM_001242896.3(DEPDC5):c.194-1G>C
|
rs2148102743
|
|
|
NM_001242896.3(DEPDC5):c.1942C>A (p.Gln648Lys)
|
|
|
|
NM_001242896.3(DEPDC5):c.1948G>A (p.Asp650Asn)
|
|
|
|
NM_001242896.3(DEPDC5):c.1948G>T (p.Asp650Tyr)
|
|
|
|
NM_001242896.3(DEPDC5):c.1948del (p.Asp650fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.1952C>A (p.Pro651Gln)
|
rs768683931
|
|
|
NM_001242896.3(DEPDC5):c.1953A>G (p.Pro651=)
|
rs2148821913
|
|
|
NM_001242896.3(DEPDC5):c.1964_1965del (p.Ser655fs)
|
rs1372605067
|
|
|
NM_001242896.3(DEPDC5):c.1976T>A (p.Leu659Gln)
|
rs2148822130
|
|
|
NM_001242896.3(DEPDC5):c.1981_2104+678del
|
|
|
|
NM_001242896.3(DEPDC5):c.1983A>G (p.Leu661=)
|
|
|
|
NM_001242896.3(DEPDC5):c.1986A>G (p.Ala662=)
|
|
|
|
NM_001242896.3(DEPDC5):c.1987T>C (p.Tyr663His)
|
|
|
|
NM_001242896.3(DEPDC5):c.198dup (p.Ile67fs)
|
rs2082694133
|
|
|
NM_001242896.3(DEPDC5):c.1991A>G (p.His664Arg)
|
|
|
|
NM_001242896.3(DEPDC5):c.1997C>T (p.Ala666Val)
|
rs2089707651
|
|
|
NM_001242896.3(DEPDC5):c.1A>G (p.Met1Val)
|
rs2147930155
|
|
|
NM_001242896.3(DEPDC5):c.2002G>A (p.Gly668Arg)
|
rs2148822327
|
|
|
NM_001242896.3(DEPDC5):c.2006+16G>A
|
|
|
|
NM_001242896.3(DEPDC5):c.2006+17G>C
|
|
|
|
NM_001242896.3(DEPDC5):c.2006+19C>T
|
|
|
|
NM_001242896.3(DEPDC5):c.2007-13C>T
|
|
|
|
NM_001242896.3(DEPDC5):c.2007-16G>T
|
rs2148829504
|
|
|
NM_001242896.3(DEPDC5):c.2007G>C (p.Arg669Ser)
|
|
|
|
NM_001242896.3(DEPDC5):c.2012G>A (p.Ser671Asn)
|
rs2148829704
|
|
|
NM_001242896.3(DEPDC5):c.2015A>G (p.Asn672Ser)
|
|
|
|
NM_001242896.3(DEPDC5):c.2019C>T (p.Ser673=)
|
|
|
|
NM_001242896.3(DEPDC5):c.2023C>T (p.Gln675Ter)
|
|
|
|
NM_001242896.3(DEPDC5):c.2024A>G (p.Gln675Arg)
|
|
|
|
NM_001242896.3(DEPDC5):c.2032G>A (p.Asp678Asn)
|
|
|
|
NM_001242896.3(DEPDC5):c.2036G>A (p.Gly679Asp)
|
rs865876158
|
|
|
NM_001242896.3(DEPDC5):c.2037C>T (p.Gly679=)
|
rs2148830009
|
|
|
NM_001242896.3(DEPDC5):c.2049G>A (p.Leu683=)
|
rs2148830090
|
|
|
NM_001242896.3(DEPDC5):c.2055C>A (p.Phe685Leu)
|
rs61731667
|
|
|
NM_001242896.3(DEPDC5):c.2055C>G (p.Phe685Leu)
|
rs61731667
|
|
|
NM_001242896.3(DEPDC5):c.2056A>G (p.Ser686Gly)
|
|
|
|
NM_001242896.3(DEPDC5):c.208_209del (p.Asp70fs)
|
rs2148103087
|
|
|
NM_001242896.3(DEPDC5):c.2091C>T (p.Ser697=)
|
rs2148830432
|
|
|
NM_001242896.3(DEPDC5):c.2094dup (p.Ser699fs)
|
rs2148830445
|
|
|
NM_001242896.3(DEPDC5):c.2101G>A (p.Ala701Thr)
|
rs2089821108
|
|
|
NM_001242896.3(DEPDC5):c.2102C>T (p.Ala701Val)
|
|
|
|
NM_001242896.3(DEPDC5):c.2103A>G (p.Ala701=)
|
|
|
|
NM_001242896.3(DEPDC5):c.2105-10C>A
|
|
|
|
NM_001242896.3(DEPDC5):c.2105G>A (p.Gly702Asp)
|
|
|
|
NM_001242896.3(DEPDC5):c.2118G>C (p.Arg706Ser)
|
|
|
|
NM_001242896.3(DEPDC5):c.211C>T (p.Gln71Ter)
|
rs2148103123
|
|
|
NM_001242896.3(DEPDC5):c.2120C>A (p.Thr707Asn)
|
|
|
|
NM_001242896.3(DEPDC5):c.2122C>G (p.Gln708Glu)
|
rs2148924357
|
|
|
NM_001242896.3(DEPDC5):c.212dup (p.Thr72fs)
|
rs2148103177
|
|
|
NM_001242896.3(DEPDC5):c.2130G>A (p.Lys710=)
|
|
|
|
NM_001242896.3(DEPDC5):c.2147G>A (p.Ser716Asn)
|
|
|
|
NM_001242896.3(DEPDC5):c.2159C>T (p.Ser720Phe)
|
|
|
|
NM_001242896.3(DEPDC5):c.2163A>G (p.Pro721=)
|
|
|
|
NM_001242896.3(DEPDC5):c.2164G>C (p.Asp722His)
|
|
|
|
NM_001242896.3(DEPDC5):c.2168C>G (p.Pro723Arg)
|
|
|
|
NM_001242896.3(DEPDC5):c.2170+16T>G
|
rs2090797139
|
|
|
NM_001242896.3(DEPDC5):c.2170+17dup
|
|
|
|
NM_001242896.3(DEPDC5):c.2170+1G>A
|
rs2148924638
|
|
|
NM_001242896.3(DEPDC5):c.2170+7G>A
|
rs1230985283
|
|
|
NM_001242896.3(DEPDC5):c.2170+7G>C
|
rs1230985283
|
|
|
NM_001242896.3(DEPDC5):c.2171-11dup
|
rs769116792
|
|
|
NM_001242896.3(DEPDC5):c.2171-15T>G
|
|
|
|
NM_001242896.3(DEPDC5):c.2171-17C>G
|
rs202128413
|
|
|
NM_001242896.3(DEPDC5):c.2177C>T (p.Thr726Ile)
|
rs1569059850
|
|
|
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.2188C>T (p.Pro730Ser)
|
|
|
|
NM_001242896.3(DEPDC5):c.218_219del (p.Val73fs)
|
rs2148103243
|
|
|
NM_001242896.3(DEPDC5):c.2190C>T (p.Pro730=)
|
rs762034639
|
|
|
NM_001242896.3(DEPDC5):c.2196dup (p.Val733fs)
|
rs2148952560
|
|
|
NM_001242896.3(DEPDC5):c.2199_2201dup (p.Pro734_Gly735insPro)
|
|
|
|
NM_001242896.3(DEPDC5):c.2200C>T (p.Pro734Ser)
|
rs1348865744
|
|
|
NM_001242896.3(DEPDC5):c.2204G>A (p.Gly735Asp)
|
rs2091055448
|
|
|
NM_001242896.3(DEPDC5):c.2210G>A (p.Cys737Tyr)
|
|
|
|
NM_001242896.3(DEPDC5):c.2222G>A (p.Gly741Glu)
|
|
|
|
NM_001242896.3(DEPDC5):c.2233_2355-686del
|
rs2148952714
|
|
|
NM_001242896.3(DEPDC5):c.2235G>A (p.Lys745=)
|
|
|
|
NM_001242896.3(DEPDC5):c.2242A>G (p.Thr748Ala)
|
|
|
|
NM_001242896.3(DEPDC5):c.2247T>C (p.Thr749=)
|
|
|
|
NM_001242896.3(DEPDC5):c.224A>C (p.Gln75Pro)
|
rs2082695082
|
|
|
NM_001242896.3(DEPDC5):c.2253G>A (p.Ala751=)
|
rs777616535
|
|
|
NM_001242896.3(DEPDC5):c.2262C>A (p.Pro754=)
|
|
|
|
NM_001242896.3(DEPDC5):c.2275_2281del (p.Tyr759fs)
|
rs2148953095
|
|
|
NM_001242896.3(DEPDC5):c.2288G>T (p.Arg763Leu)
|
rs542384516
|
|
|
NM_001242896.3(DEPDC5):c.2298G>A (p.Leu766=)
|
|
|
|
NM_001242896.3(DEPDC5):c.2304_2305dup (p.Asp769fs)
|
rs2148953333
|
|
|
NM_001242896.3(DEPDC5):c.2319C>G (p.Gly773=)
|
|
|
|
NM_001242896.3(DEPDC5):c.231_232dup (p.Arg78fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.2325T>A (p.Tyr775Ter)
|
rs374158137
|
|
|
NM_001242896.3(DEPDC5):c.232del (p.Arg78fs)
|
rs2082695884
|
|
|
NM_001242896.3(DEPDC5):c.232dup (p.Arg78fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.233G>A (p.Arg78Gln)
|
rs373578854
|
|
|
NM_001242896.3(DEPDC5):c.2349C>T (p.Ile783=)
|
rs771501558
|
|
|
NM_001242896.3(DEPDC5):c.2350G>A (p.Asp784Asn)
|
rs776885208
|
|
|
NM_001242896.3(DEPDC5):c.2354+2T>A
|
rs2148953712
|
|
|
NM_001242896.3(DEPDC5):c.2354+9C>A
|
rs2148953767
|
|
|
NM_001242896.3(DEPDC5):c.2354G>A (p.Arg785Lys)
|
rs1346133779
|
|
|
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.2355-2A>G
|
rs797044545
|
|
|
NM_001242896.3(DEPDC5):c.2356A>G (p.Arg786Gly)
|
|
|
|
NM_001242896.3(DEPDC5):c.2366A>G (p.Asp789Gly)
|
|
|
|
NM_001242896.3(DEPDC5):c.2371G>A (p.Val791Met)
|
|
|
|
NM_001242896.3(DEPDC5):c.2385C>A (p.Ala795=)
|
|
|
|
NM_001242896.3(DEPDC5):c.2390del (p.Gln797fs)
|
rs886039264
|
|
|
NM_001242896.3(DEPDC5):c.239_245dup (p.Tyr82Ter)
|
|
|
|
NM_001242896.3(DEPDC5):c.2416C>T (p.Arg806Cys)
|
rs953743301
|
|
|
NM_001242896.3(DEPDC5):c.2422A>G (p.Met808Val)
|
rs1555897260
|
|
|
NM_001242896.3(DEPDC5):c.2424G>T (p.Met808Ile)
|
|
|
|
NM_001242896.3(DEPDC5):c.2430C>T (p.Gly810=)
|
rs1486987288
|
|
|
NM_001242896.3(DEPDC5):c.2433C>A (p.Tyr811Ter)
|
|
|
|
NM_001242896.3(DEPDC5):c.2440A>G (p.Ile814Val)
|
|
|
|
NM_001242896.3(DEPDC5):c.2442A>G (p.Ile814Met)
|
|
|
|
NM_001242896.3(DEPDC5):c.2458C>A (p.Gln820Lys)
|
rs2148968487
|
|
|
NM_001242896.3(DEPDC5):c.2464C>T (p.Pro822Ser)
|
rs781677679
|
|
|
NM_001242896.3(DEPDC5):c.2465C>T (p.Pro822Leu)
|
|
|
|
NM_001242896.3(DEPDC5):c.2470C>T (p.Pro824Ser)
|
rs1357973408
|
|
|
NM_001242896.3(DEPDC5):c.2471C>G (p.Pro824Arg)
|
rs2148968635
|
|
|
NM_001242896.3(DEPDC5):c.2476G>T (p.Val826Phe)
|
rs1468914738
|
|
|
NM_001242896.3(DEPDC5):c.247C>T (p.Gln83Ter)
|
rs2148103774
|
|
|
NM_001242896.3(DEPDC5):c.2482C>A (p.Pro828Thr)
|
rs200526736
|
|
|
NM_001242896.3(DEPDC5):c.2489_2511del (p.Leu830fs)
|
rs2148968890
|
|
|
NM_001242896.3(DEPDC5):c.2489del (p.Leu830fs)
|
rs2148968909
|
|
|
NM_001242896.3(DEPDC5):c.2492_2493insAGA (p.Ser831delinsArgAsp)
|
rs1555897392
|
|
|
NM_001242896.3(DEPDC5):c.2500C>G (p.Pro834Ala)
|
rs1569067813
|
|
|
NM_001242896.3(DEPDC5):c.2500C>T (p.Pro834Ser)
|
rs1370595536
|
|
|
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter)
|
rs1569067939
|
|
|
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+2T>G
|
|
|
|
NM_001242896.3(DEPDC5):c.2515+9T>C
|
rs1185276034
|
|
|
NM_001242896.3(DEPDC5):c.2516-16dup
|
|
|
|
NM_001242896.3(DEPDC5):c.2516-8dup
|
|
|
|
NM_001242896.3(DEPDC5):c.2516G>T (p.Gly839Val)
|
rs1602349641
|
|
|
NM_001242896.3(DEPDC5):c.2521G>A (p.Val841Met)
|
rs1555899402
|
|
|
NM_001242896.3(DEPDC5):c.2548dup (p.Asp850fs)
|
rs2149004143
|
|
|
NM_001242896.3(DEPDC5):c.2554T>C (p.Tyr852His)
|
rs181352850
|
|
|
NM_001242896.3(DEPDC5):c.2557T>G (p.Trp853Gly)
|
|
|
|
NM_001242896.3(DEPDC5):c.2558G>C (p.Trp853Ser)
|
|
|
|
NM_001242896.3(DEPDC5):c.2560C>G (p.Leu854Val)
|
rs1602350218
|
|
|
NM_001242896.3(DEPDC5):c.2562G>A (p.Leu854=)
|
|
|
|
NM_001242896.3(DEPDC5):c.2568G>C (p.Met856Ile)
|
|
|
|
NM_001242896.3(DEPDC5):c.256T>C (p.Tyr86His)
|
rs752067925
|
|
|
NM_001242896.3(DEPDC5):c.2577G>C (p.Thr859=)
|
rs375938114
|
|
|
NM_001242896.3(DEPDC5):c.2578T>C (p.Phe860Leu)
|
|
|
|
NM_001242896.3(DEPDC5):c.2581C>T (p.His861Tyr)
|
rs2149004473
|
|
|
NM_001242896.3(DEPDC5):c.2583C>G (p.His861Gln)
|
|
|
|
NM_001242896.3(DEPDC5):c.2583C>T (p.His861=)
|
rs2149004496
|
|
|
NM_001242896.3(DEPDC5):c.2588T>C (p.Val863Ala)
|
rs1254155768
|
|
|
NM_001242896.3(DEPDC5):c.2590A>G (p.Thr864Ala)
|
rs752198928
|
|
|
NM_001242896.3(DEPDC5):c.2591_2592insCA (p.Leu865fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.2598G>A (p.Lys866=)
|
rs1602350504
|
|
|
NM_001242896.3(DEPDC5):c.2608A>G (p.Ile870Val)
|
rs573955848
|
|
|
NM_001242896.3(DEPDC5):c.2620C>T (p.Arg874Ter)
|
rs578185749
|
|
|
NM_001242896.3(DEPDC5):c.2621G>A (p.Arg874Gln)
|
rs1602350746
|
|
|
NM_001242896.3(DEPDC5):c.2622A>G (p.Arg874=)
|
rs374820591
|
|
|
NM_001242896.3(DEPDC5):c.2632A>C (p.Lys878Gln)
|
|
|
|
NM_001242896.3(DEPDC5):c.2633+15A>G
|
|
|
|
NM_001242896.3(DEPDC5):c.2633+3G>A
|
rs2091504417
|
|
|
NM_001242896.3(DEPDC5):c.2633+5G>A
|
rs2149004867
|
|
|
NM_001242896.3(DEPDC5):c.2633+9T>G
|
rs2091505022
|
|
|
NM_001242896.3(DEPDC5):c.2634-2A>G
|
rs2149008450
|
|
|
NM_001242896.3(DEPDC5):c.2634-4G>A
|
|
|
|
NM_001242896.3(DEPDC5):c.2634-5del
|
rs1602354182
|
|
|
NM_001242896.3(DEPDC5):c.2650G>A (p.Ala884Thr)
|
|
|
|
NM_001242896.3(DEPDC5):c.2651C>T (p.Ala884Val)
|
rs2149008615
|
|
|
NM_001242896.3(DEPDC5):c.2657T>C (p.Ile886Thr)
|
rs2149008707
|
|
|
NM_001242896.3(DEPDC5):c.2659C>A (p.His887Asn)
|
rs751284078
|
|
|
NM_001242896.3(DEPDC5):c.2660A>T (p.His887Leu)
|
|
|
|
NM_001242896.3(DEPDC5):c.2661C>A (p.His887Gln)
|
rs1555899801
|
|
|
NM_001242896.3(DEPDC5):c.2663A>T (p.Tyr888Phe)
|
|
|
|
NM_001242896.3(DEPDC5):c.2664C>T (p.Tyr888=)
|
rs2091536064
|
|
|
NM_001242896.3(DEPDC5):c.2666C>T (p.Thr889Ile)
|
rs2149008846
|
|
|
NM_001242896.3(DEPDC5):c.2674C>T (p.Leu892Phe)
|
|
|
|
NM_001242896.3(DEPDC5):c.2690C>A (p.Ser897Ter)
|
|
|
|
NM_001242896.3(DEPDC5):c.2692G>T (p.Asp898Tyr)
|
rs1421058201
|
|
|
NM_001242896.3(DEPDC5):c.2694_2703delinsGGACA (p.Asp898fs)
|
rs1569083500
|
|
|
NM_001242896.3(DEPDC5):c.2697dup (p.Glu900fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.2702T>C (p.Phe901Ser)
|
|
|
|
NM_001242896.3(DEPDC5):c.2702_2705del (p.Phe901fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.2703C>T (p.Phe901=)
|
|
|
|
NM_001242896.3(DEPDC5):c.2707T>C (p.Ser903Pro)
|
|
|
|
NM_001242896.3(DEPDC5):c.2710T>G (p.Cys904Gly)
|
|
|
|
NM_001242896.3(DEPDC5):c.2715G>C (p.Trp905Cys)
|
rs1261463857
|
|
|
NM_001242896.3(DEPDC5):c.2725T>G (p.Ser909Ala)
|
|
|
|
NM_001242896.3(DEPDC5):c.2734C>T (p.Arg912Trp)
|
rs528863179
|
|
|
NM_001242896.3(DEPDC5):c.2735G>T (p.Arg912Leu)
|
|
|
|
NM_001242896.3(DEPDC5):c.2745G>T (p.Glu915Asp)
|
rs373602490
|
|
|
NM_001242896.3(DEPDC5):c.2750A>G (p.Lys917Arg)
|
|
|
|
NM_001242896.3(DEPDC5):c.275C>G (p.Pro92Arg)
|
|
|
|
NM_001242896.3(DEPDC5):c.2761T>C (p.Leu921=)
|
rs2149009557
|
|
|
NM_001242896.3(DEPDC5):c.2767C>G (p.Gln923Glu)
|
rs2149009626
|
|
|
NM_001242896.3(DEPDC5):c.2768A>G (p.Gln923Arg)
|
|
|
|
NM_001242896.3(DEPDC5):c.2768_2775del (p.Gln923fs)
|
rs2149009589
|
|
|
NM_001242896.3(DEPDC5):c.2773A>G (p.Ile925Val)
|
|
|
|
NM_001242896.3(DEPDC5):c.2783C>T (p.Ala928Val)
|
rs1250427988
|
|
|
NM_001242896.3(DEPDC5):c.279+11G>A
|
|
|
|
NM_001242896.3(DEPDC5):c.279+13_279+15del
|
rs755269620
|
|
|
NM_001242896.3(DEPDC5):c.279+1G>A
|
rs886039246
|
|
|
NM_001242896.3(DEPDC5):c.279+1G>C
|
rs886039246
|
|
|
NM_001242896.3(DEPDC5):c.279+7C>G
|
rs1233032816
|
|
|
NM_001242896.3(DEPDC5):c.280-11A>G
|
rs1601648104
|
|
|
NM_001242896.3(DEPDC5):c.280-1G>A
|
rs1556526609
|
|
|
NM_001242896.3(DEPDC5):c.280-20C>A
|
rs931125400
|
|
|
NM_001242896.3(DEPDC5):c.280-2A>G
|
rs2148127827
|
|
|
NM_001242896.3(DEPDC5):c.280-4_282del
|
|
|
|
NM_001242896.3(DEPDC5):c.280-8C>T
|
|
|
|
NM_001242896.3(DEPDC5):c.2800A>G (p.Ser934Gly)
|
|
|
|
NM_001242896.3(DEPDC5):c.2801+19G>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.2808T>G (p.Ile936Met)
|
rs2091642875
|
|
|
NM_001242896.3(DEPDC5):c.280G>T (p.Asp94Tyr)
|
rs2082839289
|
|
|
NM_001242896.3(DEPDC5):c.2816T>C (p.Leu939Pro)
|
|
|
|
NM_001242896.3(DEPDC5):c.2823C>G (p.Phe941Leu)
|
rs1555900811
|
|
|
NM_001242896.3(DEPDC5):c.2826G>A (p.Trp942Ter)
|
rs2091643419
|
|
|
NM_001242896.3(DEPDC5):c.2832C>T (p.Thr944=)
|
rs771577027
|
|
|
NM_001242896.3(DEPDC5):c.2839C>A (p.Leu947Met)
|
|
|
|
NM_001242896.3(DEPDC5):c.2844G>C (p.Leu948=)
|
rs151215663
|
|
|
NM_001242896.3(DEPDC5):c.2845C>T (p.Leu949=)
|
|
|
|
NM_001242896.3(DEPDC5):c.2846T>C (p.Leu949Pro)
|
|
|
|
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.2856T>A (p.Cys952Ter)
|
rs115299174
|
|
|
NM_001242896.3(DEPDC5):c.2857_2858del (p.Val953fs)
|
rs2091645809
|
|
|
NM_001242896.3(DEPDC5):c.285G>A (p.Val95=)
|
rs2082840094
|
|
|
NM_001242896.3(DEPDC5):c.286A>T (p.Thr96Ser)
|
|
|
|
NM_001242896.3(DEPDC5):c.2872C>T (p.Arg958Cys)
|
|
|
|
NM_001242896.3(DEPDC5):c.2884G>C (p.Gly962Arg)
|
|
|
|
NM_001242896.3(DEPDC5):c.2887dup (p.Glu963fs)
|
rs2149024046
|
|
|
NM_001242896.3(DEPDC5):c.2894_2919del (p.His965fs)
|
rs1555900914
|
|
|
NM_001242896.3(DEPDC5):c.2898C>A (p.Cys966Ter)
|
rs748986619
|
|
|
NM_001242896.3(DEPDC5):c.2907T>G (p.Tyr969Ter)
|
|
|
|
NM_001242896.3(DEPDC5):c.2924C>T (p.Ala975Val)
|
|
|
|
NM_001242896.3(DEPDC5):c.2934C>A (p.Asp978Glu)
|
|
|
|
NM_001242896.3(DEPDC5):c.2935G>A (p.Glu979Lys)
|
rs2091651367
|
|
|
NM_001242896.3(DEPDC5):c.2937G>C (p.Glu979Asp)
|
rs1602368020
|
|
|
NM_001242896.3(DEPDC5):c.2940G>A (p.Trp980Ter)
|
|
|
|
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.2953G>A (p.Gly985Ser)
|
|
|
|
NM_001242896.3(DEPDC5):c.2955T>C (p.Gly985=)
|
|
|
|
NM_001242896.3(DEPDC5):c.2958_2959insTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGATGGTTTT (p.Val987delinsPhePhePhePhePheXaaXaaXaaXaaPhePhePhePhePhePhePhePhePheTer)
|
rs2149024566
|
|
|
NM_001242896.3(DEPDC5):c.2958del (p.Phe986fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.295C>T (p.Leu99=)
|
rs2148128121
|
|
|
NM_001242896.3(DEPDC5):c.2963G>T (p.Arg988Leu)
|
|
|
|
NM_001242896.3(DEPDC5):c.2984G>A (p.Arg995His)
|
|
|
|
NM_001242896.3(DEPDC5):c.2986A>G (p.Ile996Val)
|
rs2149024866
|
|
|
NM_001242896.3(DEPDC5):c.2989C>T (p.Arg997Cys)
|
rs1555900981
|
|
|
NM_001242896.3(DEPDC5):c.2989del (p.Arg997fs)
|
rs2149024925
|
|
|
NM_001242896.3(DEPDC5):c.2994del (p.Arg998fs)
|
|
|
|
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.3005C>A (p.Ser1002Ter)
|
rs2149025148
|
|
|
NM_001242896.3(DEPDC5):c.3010C>T (p.Arg1004Cys)
|
|
|
|
NM_001242896.3(DEPDC5):c.3016A>T (p.Met1006Leu)
|
|
|
|
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.3021+1G>A
|
rs2091657024
|
|
|
NM_001242896.3(DEPDC5):c.3021+2T>G
|
|
|
|
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.3029C>T (p.Thr1010Ile)
|
|
|
|
NM_001242896.3(DEPDC5):c.3031G>A (p.Ala1011Thr)
|
rs764941727
|
|
|
NM_001242896.3(DEPDC5):c.3031G>T (p.Ala1011Ser)
|
rs764941727
|
|
|
NM_001242896.3(DEPDC5):c.3036G>A (p.Met1012Ile)
|
|
|
|
NM_001242896.3(DEPDC5):c.3045G>A (p.Leu1015=)
|
|
|
|
NM_001242896.3(DEPDC5):c.3046C>T (p.Gln1016Ter)
|
rs886039265
|
|
|
NM_001242896.3(DEPDC5):c.3050T>C (p.Met1017Thr)
|
|
|
|
NM_001242896.3(DEPDC5):c.3056G>C (p.Gly1019Ala)
|
|
|
|
NM_001242896.3(DEPDC5):c.3057G>A (p.Gly1019=)
|
rs1060504242
|
|
|
NM_001242896.3(DEPDC5):c.305dup (p.Leu102fs)
|
rs2148128199
|
|
|
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.3085A>C (p.Thr1029Pro)
|
rs537257402
|
|
|
NM_001242896.3(DEPDC5):c.3091C>T (p.Pro1031Ser)
|
|
|
|
NM_001242896.3(DEPDC5):c.3094C>T (p.Pro1032Ser)
|
rs770979723
|
|
|
NM_001242896.3(DEPDC5):c.3095del (p.Pro1032fs)
|
rs2091769406
|
|
|
NM_001242896.3(DEPDC5):c.3097G>A (p.Val1033Met)
|
rs376313159
|
|
|
NM_001242896.3(DEPDC5):c.3097G>C (p.Val1033Leu)
|
rs376313159
|
|
|
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.3138G>T (p.Glu1046Asp)
|
rs2149038350
|
|
|
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.3155+5G>A
|
|
|
|
NM_001242896.3(DEPDC5):c.3156-19G>A
|
|
|
|
NM_001242896.3(DEPDC5):c.3156-8C>T
|
rs2092344323
|
|
|
NM_001242896.3(DEPDC5):c.3159C>A (p.Cys1053Ter)
|
rs1162414657
|
|
|
NM_001242896.3(DEPDC5):c.3169C>A (p.Gln1057Lys)
|
|
|
|
NM_001242896.3(DEPDC5):c.3169C>G (p.Gln1057Glu)
|
rs1602471069
|
|
|
NM_001242896.3(DEPDC5):c.3169CAG[1] (p.Gln1058del)
|
rs2149117083
|
|
|
NM_001242896.3(DEPDC5):c.3170A>C (p.Gln1057Pro)
|
rs2092345185
|
|
|
NM_001242896.3(DEPDC5):c.3176_3177del (p.Ala1059fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.3177A>C (p.Ala1059=)
|
|
|
|
NM_001242896.3(DEPDC5):c.3177A>G (p.Ala1059=)
|
rs776608344
|
|
|
NM_001242896.3(DEPDC5):c.3187G>C (p.Gly1063Arg)
|
rs2149117292
|
|
|
NM_001242896.3(DEPDC5):c.3188G>A (p.Gly1063Asp)
|
rs2149117311
|
|
|
NM_001242896.3(DEPDC5):c.319C>T (p.Gln107Ter)
|
rs2082841677
|
|
|
NM_001242896.3(DEPDC5):c.3202G>C (p.Ala1068Pro)
|
rs763158282
|
|
|
NM_001242896.3(DEPDC5):c.3205C>T (p.Gln1069Ter)
|
rs2149117486
|
|
|
NM_001242896.3(DEPDC5):c.3206A>G (p.Gln1069Arg)
|
|
|
|
NM_001242896.3(DEPDC5):c.3209C>T (p.Ser1070Leu)
|
|
|
|
NM_001242896.3(DEPDC5):c.3213C>T (p.Ala1071=)
|
rs373166302
|
|
|
NM_001242896.3(DEPDC5):c.3216G>C (p.Glu1072Asp)
|
rs753608617
|
|
|
NM_001242896.3(DEPDC5):c.3218G>A (p.Ser1073Asn)
|
rs375884815
|
|
|
NM_001242896.3(DEPDC5):c.3223A>G (p.Ser1075Gly)
|
rs376555106
|
|
|
NM_001242896.3(DEPDC5):c.3224G>A (p.Ser1075Asn)
|
rs1399730598
|
|
|
NM_001242896.3(DEPDC5):c.3226G>A (p.Val1076Ile)
|
|
|
|
NM_001242896.3(DEPDC5):c.3235A>G (p.Thr1079Ala)
|
rs878854278
|
|
|
NM_001242896.3(DEPDC5):c.3236C>T (p.Thr1079Ile)
|
|
|
|
NM_001242896.3(DEPDC5):c.3242C>T (p.Thr1081Ile)
|
rs2092348833
|
|
|
NM_001242896.3(DEPDC5):c.3247A>G (p.Met1083Val)
|
|
|
|
NM_001242896.3(DEPDC5):c.324T>G (p.Tyr108Ter)
|
rs2148128349
|
|
|
NM_001242896.3(DEPDC5):c.3255C>T (p.Ser1085=)
|
rs1427106897
|
|
|
NM_001242896.3(DEPDC5):c.3256C>G (p.Pro1086Ala)
|
|
|
|
NM_001242896.3(DEPDC5):c.3257C>A (p.Pro1086Gln)
|
|
|
|
NM_001242896.3(DEPDC5):c.3259C>G (p.Arg1087Gly)
|
|
|
|
NM_001242896.3(DEPDC5):c.3259C>T (p.Arg1087Ter)
|
rs587777458
|
|
|
NM_001242896.3(DEPDC5):c.3260dup (p.Asp1089fs)
|
|
|
|
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.3264G>A (p.Lys1088=)
|
|
|
|
NM_001242896.3(DEPDC5):c.3265-12C>T
|
|
|
|
NM_001242896.3(DEPDC5):c.3265-16C>A
|
rs1212448725
|
|
|
NM_001242896.3(DEPDC5):c.3278_3279del (p.Phe1093fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.327del (p.Ile109fs)
|
rs2148128390
|
|
|
NM_001242896.3(DEPDC5):c.3292C>G (p.Arg1098Gly)
|
rs777509933
|
|
|
NM_001242896.3(DEPDC5):c.3292C>T (p.Arg1098Cys)
|
rs777509933
|
|
|
NM_001242896.3(DEPDC5):c.3295A>G (p.Ser1099Gly)
|
|
|
|
NM_001242896.3(DEPDC5):c.329G>T (p.Gly110Val)
|
|
|
|
NM_001242896.3(DEPDC5):c.3301C>T (p.Arg1101Cys)
|
|
|
|
NM_001242896.3(DEPDC5):c.3303C>T (p.Arg1101=)
|
|
|
|
NM_001242896.3(DEPDC5):c.3305C>T (p.Thr1102Ile)
|
rs528786894
|
|
|
NM_001242896.3(DEPDC5):c.3319T>G (p.Phe1107Val)
|
|
|
|
NM_001242896.3(DEPDC5):c.3323A>G (p.Tyr1108Cys)
|
|
|
|
NM_001242896.3(DEPDC5):c.3326C>T (p.Pro1109Leu)
|
|
|
|
NM_001242896.3(DEPDC5):c.3329A>G (p.Gln1110Arg)
|
rs1555909576
|
|
|
NM_001242896.3(DEPDC5):c.332G>A (p.Arg111His)
|
rs878854279
|
|
|
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+5G>C
|
|
|
|
NM_001242896.3(DEPDC5):c.3330+8C>T
|
rs2149154018
|
|
|
NM_001242896.3(DEPDC5):c.3331-11A>G
|
|
|
|
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.3340G>C (p.Asp1114His)
|
rs1029839829
|
|
|
NM_001242896.3(DEPDC5):c.3347C>A (p.Thr1116Lys)
|
|
|
|
NM_001242896.3(DEPDC5):c.3353C>T (p.Thr1118Ile)
|
|
|
|
NM_001242896.3(DEPDC5):c.3355C>T (p.Pro1119Ser)
|
|
|
|
NM_001242896.3(DEPDC5):c.3366C>A (p.Asp1122Glu)
|
|
|
|
NM_001242896.3(DEPDC5):c.3380G>T (p.Gly1127Val)
|
rs941078167
|
|
|
NM_001242896.3(DEPDC5):c.338del (p.Asp113fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.3392G>A (p.Gly1131Asp)
|
|
|
|
NM_001242896.3(DEPDC5):c.3400A>G (p.Met1134Val)
|
|
|
|
NM_001242896.3(DEPDC5):c.3401T>C (p.Met1134Thr)
|
|
|
|
NM_001242896.3(DEPDC5):c.3403G>A (p.Asp1135Asn)
|
rs896871427
|
|
|
NM_001242896.3(DEPDC5):c.3411C>G (p.Gly1137=)
|
|
|
|
NM_001242896.3(DEPDC5):c.3412A>C (p.Asn1138His)
|
|
|
|
NM_001242896.3(DEPDC5):c.3414C>T (p.Asn1138=)
|
|
|
|
NM_001242896.3(DEPDC5):c.3416G>C (p.Ser1139Thr)
|
rs2092816043
|
|
|
NM_001242896.3(DEPDC5):c.3422C>T (p.Thr1141Ile)
|
rs926750227
|
|
|
NM_001242896.3(DEPDC5):c.3425T>C (p.Phe1142Ser)
|
rs2092816186
|
|
|
NM_001242896.3(DEPDC5):c.3427G>A (p.Gly1143Arg)
|
rs1479727000
|
|
|
NM_001242896.3(DEPDC5):c.3436C>G (p.Gln1146Glu)
|
|
|
|
NM_001242896.3(DEPDC5):c.3436C>T (p.Gln1146Ter)
|
rs2092816377
|
|
|
NM_001242896.3(DEPDC5):c.3437A>G (p.Gln1146Arg)
|
rs1555913525
|
|
|
NM_001242896.3(DEPDC5):c.3439A>C (p.Asn1147His)
|
rs2092816522
|
|
|
NM_001242896.3(DEPDC5):c.3444A>G (p.Ile1148Met)
|
|
|
|
NM_001242896.3(DEPDC5):c.3444A>T (p.Ile1148=)
|
rs1302758120
|
|
|
NM_001242896.3(DEPDC5):c.3444del (p.Ile1148fs)
|
rs886039266
|
|
|
NM_001242896.3(DEPDC5):c.3449_3450del (p.Glu1150fs)
|
rs2149231471
|
|
|
NM_001242896.3(DEPDC5):c.344G>A (p.Trp115Ter)
|
|
|
|
NM_001242896.3(DEPDC5):c.3451C>T (p.Gln1151Ter)
|
|
|
|
NM_001242896.3(DEPDC5):c.3455G>T (p.Gly1152Val)
|
rs2149231484
|
|
|
NM_001242896.3(DEPDC5):c.3455_3457dup (p.Gly1152_Tyr1153insCys)
|
rs2092816876
|
|
|
NM_001242896.3(DEPDC5):c.3456C>A (p.Gly1152=)
|
|
|
|
NM_001242896.3(DEPDC5):c.3456C>T (p.Gly1152=)
|
rs757188110
|
|
|
NM_001242896.3(DEPDC5):c.3457T>C (p.Tyr1153His)
|
|
|
|
NM_001242896.3(DEPDC5):c.345G>A (p.Trp115Ter)
|
|
|
|
NM_001242896.3(DEPDC5):c.3460TCC[1] (p.Ser1155del)
|
rs2092817019
|
|
|
NM_001242896.3(DEPDC5):c.3477T>C (p.Ser1159=)
|
rs2149231632
|
|
|
NM_001242896.3(DEPDC5):c.3479A>T (p.Asp1160Val)
|
rs1419496771
|
|
|
NM_001242896.3(DEPDC5):c.347G>T (p.Arg116Leu)
|
rs777623410
|
|
|
NM_001242896.3(DEPDC5):c.3484A>G (p.Ser1162Gly)
|
rs886039280
|
|
|
NM_001242896.3(DEPDC5):c.3485+1G>A
|
|
|
|
NM_001242896.3(DEPDC5):c.3485+1G>T
|
rs2149231722
|
|
|
NM_001242896.3(DEPDC5):c.3486-12C>G
|
rs1319274878
|
|
|
NM_001242896.3(DEPDC5):c.3486-12C>T
|
|
|
|
NM_001242896.3(DEPDC5):c.3486-13C>A
|
|
|
|
NM_001242896.3(DEPDC5):c.3486-1G>C
|
|
|
|
NM_001242896.3(DEPDC5):c.3486-1G>T
|
|
|
|
NM_001242896.3(DEPDC5):c.3486-3_3486-1delinsA
|
|
|
|
NM_001242896.3(DEPDC5):c.3486-5dup
|
rs1555914747
|
|
|
NM_001242896.3(DEPDC5):c.3486-9G>A
|
|
|
|
NM_001242896.3(DEPDC5):c.3493C>A (p.Gln1165Lys)
|
|
|
|
NM_001242896.3(DEPDC5):c.3509C>T (p.Ser1170Phe)
|
|
|
|
NM_001242896.3(DEPDC5):c.3547del (p.Ala1183fs)
|
rs1569166925
|
|
|
NM_001242896.3(DEPDC5):c.3550A>T (p.Met1184Leu)
|
|
|
|
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+1G>A
|
rs1261611694
|
|
|
NM_001242896.3(DEPDC5):c.3563+1G>C
|
rs1261611694
|
|
|
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.3564-1G>C
|
|
|
|
NM_001242896.3(DEPDC5):c.3564-8G>A
|
|
|
|
NM_001242896.3(DEPDC5):c.3571G>A (p.Val1191Ile)
|
|
|
|
NM_001242896.3(DEPDC5):c.3571G>C (p.Val1191Leu)
|
rs777200870
|
|
|
NM_001242896.3(DEPDC5):c.3578T>A (p.Leu1193Gln)
|
rs2092931592
|
|
|
NM_001242896.3(DEPDC5):c.3578del (p.Leu1193fs)
|
rs1309891064
|
|
|
NM_001242896.3(DEPDC5):c.357_358del (p.Ser120fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.358A>T (p.Ser120Cys)
|
|
|
|
NM_001242896.3(DEPDC5):c.3590A>G (p.Gln1197Arg)
|
|
|
|
NM_001242896.3(DEPDC5):c.3596G>A (p.Gly1199Asp)
|
|
|
|
NM_001242896.3(DEPDC5):c.3600C>G (p.Leu1200=)
|
rs756889449
|
|
|
NM_001242896.3(DEPDC5):c.3612C>G (p.Cys1204Trp)
|
rs2092932762
|
|
|
NM_001242896.3(DEPDC5):c.3613T>C (p.Phe1205Leu)
|
|
|
|
NM_001242896.3(DEPDC5):c.3614T>G (p.Phe1205Cys)
|
rs2149256525
|
|
|
NM_001242896.3(DEPDC5):c.361T>G (p.Leu121Val)
|
rs2148128852
|
|
|
NM_001242896.3(DEPDC5):c.3620G>C (p.Ser1207Thr)
|
rs2092932829
|
|
|
NM_001242896.3(DEPDC5):c.363+11A>T
|
|
|
|
NM_001242896.3(DEPDC5):c.363+19del
|
rs529780938
|
|
|
NM_001242896.3(DEPDC5):c.363+19dup
|
rs529780938
|
|
|
NM_001242896.3(DEPDC5):c.363+1G>A
|
rs2082845191
|
|
|
NM_001242896.3(DEPDC5):c.363+1G>C
|
|
|
|
NM_001242896.3(DEPDC5):c.363+6A>G
|
rs933571182
|
|
|
NM_001242896.3(DEPDC5):c.3630G>A (p.Val1210=)
|
rs2149256621
|
|
|
NM_001242896.3(DEPDC5):c.3635A>G (p.His1212Arg)
|
|
|
|
NM_001242896.3(DEPDC5):c.3636C>G (p.His1212Gln)
|
rs2092933328
|
|
|
NM_001242896.3(DEPDC5):c.3638G>A (p.Trp1213Ter)
|
rs2149256695
|
|
|
NM_001242896.3(DEPDC5):c.363G>T (p.Leu121Phe)
|
rs2082845017
|
|
|
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.364-1G>A
|
rs2083056830
|
|
|
NM_001242896.3(DEPDC5):c.364-20C>G
|
|
|
|
NM_001242896.3(DEPDC5):c.3640T>C (p.Leu1214=)
|
|
|
|
NM_001242896.3(DEPDC5):c.3640T>G (p.Leu1214Val)
|
|
|
|
NM_001242896.3(DEPDC5):c.3645G>A (p.Val1215=)
|
|
|
|
NM_001242896.3(DEPDC5):c.3655dup (p.Glu1219fs)
|
rs2092933941
|
|
|
NM_001242896.3(DEPDC5):c.3663C>G (p.Ile1221Met)
|
|
|
|
NM_001242896.3(DEPDC5):c.3663C>T (p.Ile1221=)
|
|
|
|
NM_001242896.3(DEPDC5):c.3674C>T (p.Ala1225Val)
|
|
|
|
NM_001242896.3(DEPDC5):c.3679G>T (p.Ala1227Ser)
|
rs2149256987
|
|
|
NM_001242896.3(DEPDC5):c.3682A>C (p.Ile1228Leu)
|
|
|
|
NM_001242896.3(DEPDC5):c.3693G>A (p.Met1231Ile)
|
rs2092934953
|
|
|
NM_001242896.3(DEPDC5):c.3696+10C>A
|
rs755463750
|
|
|
NM_001242896.3(DEPDC5):c.3696+10C>T
|
|
|
|
NM_001242896.3(DEPDC5):c.3696+1G>A
|
|
|
|
NM_001242896.3(DEPDC5):c.3696+2dup
|
|
|
|
NM_001242896.3(DEPDC5):c.3696+5G>A
|
rs886039267
|
|
|
NM_001242896.3(DEPDC5):c.3697-11G>A
|
|
|
|
NM_001242896.3(DEPDC5):c.3697-13A>C
|
rs199645234
|
|
|
NM_001242896.3(DEPDC5):c.3697-13A>G
|
|
|
|
NM_001242896.3(DEPDC5):c.3697-13A>T
|
rs199645234
|
|
|
NM_001242896.3(DEPDC5):c.3703C>G (p.Leu1235Val)
|
rs766933880
|
|
|
NM_001242896.3(DEPDC5):c.3709G>A (p.Glu1237Lys)
|
rs2092986144
|
|
|
NM_001242896.3(DEPDC5):c.3709del (p.Glu1237fs)
|
rs2092986219
|
|
|
NM_001242896.3(DEPDC5):c.3711G>A (p.Glu1237=)
|
|
|
|
NM_001242896.3(DEPDC5):c.3717dup (p.Ile1240fs)
|
rs2149267082
|
|
|
NM_001242896.3(DEPDC5):c.3723dup (p.His1242fs)
|
rs2149267113
|
|
|
NM_001242896.3(DEPDC5):c.3725A>G (p.His1242Arg)
|
rs750097398
|
|
|
NM_001242896.3(DEPDC5):c.3730T>C (p.Ser1244Pro)
|
|
|
|
NM_001242896.3(DEPDC5):c.3731C>G (p.Ser1244Cys)
|
rs755768537
|
|
|
NM_001242896.3(DEPDC5):c.3735C>A (p.Gly1245=)
|
rs758804451
|
|
|
NM_001242896.3(DEPDC5):c.3745C>T (p.Arg1249Trp)
|
|
|
|
NM_001242896.3(DEPDC5):c.3758A>G (p.Tyr1253Cys)
|
rs2092987722
|
|
|
NM_001242896.3(DEPDC5):c.3760G>A (p.Gly1254Ser)
|
|
|
|
NM_001242896.3(DEPDC5):c.3762C>T (p.Gly1254=)
|
|
|
|
NM_001242896.3(DEPDC5):c.376G>A (p.Ala126Thr)
|
rs1008310202
|
|
|
NM_001242896.3(DEPDC5):c.3774C>G (p.Tyr1258Ter)
|
|
|
|
NM_001242896.3(DEPDC5):c.3776A>G (p.Lys1259Arg)
|
|
|
|
NM_001242896.3(DEPDC5):c.3786G>T (p.Thr1262=)
|
rs372568872
|
|
|
NM_001242896.3(DEPDC5):c.3795G>A (p.Glu1265=)
|
|
|
|
NM_001242896.3(DEPDC5):c.3799G>A (p.Asp1267Asn)
|
rs1340279120
|
|
|
NM_001242896.3(DEPDC5):c.3799G>T (p.Asp1267Tyr)
|
rs1340279120
|
|
|
NM_001242896.3(DEPDC5):c.3802C>T (p.Arg1268Ter)
|
rs886039268
|
|
|
NM_001242896.3(DEPDC5):c.3803G>A (p.Arg1268Gln)
|
rs886039281
|
|
|
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.3809C>T (p.Ala1270Val)
|
|
|
|
NM_001242896.3(DEPDC5):c.3816G>A (p.Gln1272=)
|
rs1602677099
|
|
|
NM_001242896.3(DEPDC5):c.3821C>T (p.Pro1274Leu)
|
|
|
|
NM_001242896.3(DEPDC5):c.3823G>C (p.Ala1275Pro)
|
rs1453526282
|
|
|
NM_001242896.3(DEPDC5):c.3825C>T (p.Ala1275=)
|
|
|
|
NM_001242896.3(DEPDC5):c.3828C>T (p.Thr1276=)
|
rs1602677299
|
|
|
NM_001242896.3(DEPDC5):c.3833G>T (p.Trp1278Leu)
|
rs1569185783
|
|
|
NM_001242896.3(DEPDC5):c.3839C>T (p.Thr1280Ile)
|
|
|
|
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>A (p.Asp1284Glu)
|
rs773340826
|
|
|
NM_001242896.3(DEPDC5):c.3852C>T (p.Asp1284=)
|
|
|
|
NM_001242896.3(DEPDC5):c.3859G>T (p.Ala1287Ser)
|
rs867268278
|
|
|
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.3868C>T (p.Gln1290Ter)
|
rs1569186093
|
|
|
NM_001242896.3(DEPDC5):c.3875A>C (p.Lys1292Thr)
|
rs1602677961
|
|
|
NM_001242896.3(DEPDC5):c.3876G>C (p.Lys1292Asn)
|
rs1602677998
|
|
|
NM_001242896.3(DEPDC5):c.3884_3889del (p.Glu1295_Val1296del)
|
rs2149294996
|
|
|
NM_001242896.3(DEPDC5):c.3886G>T (p.Val1296Leu)
|
rs1569186162
|
|
|
NM_001242896.3(DEPDC5):c.3887T>C (p.Val1296Ala)
|
|
|
|
NM_001242896.3(DEPDC5):c.3889G>T (p.Ala1297Ser)
|
|
|
|
NM_001242896.3(DEPDC5):c.3898G>A (p.Ala1300Thr)
|
rs1395522861
|
|
|
NM_001242896.3(DEPDC5):c.3901G>C (p.Glu1301Gln)
|
rs762142759
|
|
|
NM_001242896.3(DEPDC5):c.3907C>G (p.Leu1303Val)
|
|
|
|
NM_001242896.3(DEPDC5):c.3910G>T (p.Val1304Leu)
|
rs750936617
|
|
|
NM_001242896.3(DEPDC5):c.3925C>T (p.Pro1309Ser)
|
|
|
|
NM_001242896.3(DEPDC5):c.3926del (p.Pro1309fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.3934C>T (p.Leu1312Phe)
|
rs2093121640
|
|
|
NM_001242896.3(DEPDC5):c.3940C>T (p.Pro1314Ser)
|
rs2093121770
|
|
|
NM_001242896.3(DEPDC5):c.3945G>A (p.Trp1315Ter)
|
|
|
|
NM_001242896.3(DEPDC5):c.3948G>A (p.Leu1316=)
|
rs371864100
|
|
|
NM_001242896.3(DEPDC5):c.3951T>A (p.Pro1317=)
|
|
|
|
NM_001242896.3(DEPDC5):c.3952A>C (p.Ser1318Arg)
|
rs1602678715
|
|
|
NM_001242896.3(DEPDC5):c.3963C>T (p.Ala1321=)
|
rs2149295505
|
|
|
NM_001242896.3(DEPDC5):c.397G>C (p.Glu133Gln)
|
rs1341691013
|
|
|
NM_001242896.3(DEPDC5):c.3981C>T (p.His1327=)
|
rs2149295639
|
|
|
NM_001242896.3(DEPDC5):c.3987_3988insA (p.Phe1330fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.3989T>A (p.Phe1330Tyr)
|
rs2093123100
|
|
|
NM_001242896.3(DEPDC5):c.3994C>T (p.Arg1332Ter)
|
rs886039269
|
|
|
NM_001242896.3(DEPDC5):c.4008A>G (p.Gly1336=)
|
|
|
|
NM_001242896.3(DEPDC5):c.4009C>T (p.Arg1337Trp)
|
|
|
|
NM_001242896.3(DEPDC5):c.4013G>A (p.Ser1338Asn)
|
|
|
|
NM_001242896.3(DEPDC5):c.4015C>T (p.Gln1339Ter)
|
rs1309166815
|
|
|
NM_001242896.3(DEPDC5):c.4020G>A (p.Ala1340=)
|
|
|
|
NM_001242896.3(DEPDC5):c.4026A>T (p.Ala1342=)
|
|
|
|
NM_001242896.3(DEPDC5):c.4031T>G (p.Leu1344Ter)
|
|
|
|
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.4034-4A>G
|
rs2093485743
|
|
|
NM_001242896.3(DEPDC5):c.4042G>A (p.Val1348Ile)
|
rs1380088913
|
|
|
NM_001242896.3(DEPDC5):c.4049A>T (p.Glu1350Val)
|
|
|
|
NM_001242896.3(DEPDC5):c.4058C>T (p.Thr1353Ile)
|
rs1163140081
|
|
|
NM_001242896.3(DEPDC5):c.4076A>T (p.Asp1359Val)
|
|
|
|
NM_001242896.3(DEPDC5):c.4078G>A (p.Val1360Met)
|
|
|
|
NM_001242896.3(DEPDC5):c.4084_4087dup (p.Arg1363fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.4085del (p.Asn1362fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.4088G>A (p.Arg1363His)
|
|
|
|
NM_001242896.3(DEPDC5):c.4091C>T (p.Thr1364Ile)
|
|
|
|
NM_001242896.3(DEPDC5):c.4093G>A (p.Asp1365Asn)
|
rs1191285429
|
|
|
NM_001242896.3(DEPDC5):c.4093G>T (p.Asp1365Tyr)
|
rs1191285429
|
|
|
NM_001242896.3(DEPDC5):c.4097G>T (p.Arg1366Leu)
|
rs1064795095
|
|
|
NM_001242896.3(DEPDC5):c.4102G>T (p.Glu1368Ter)
|
|
|
|
NM_001242896.3(DEPDC5):c.4107G>A (p.Trp1369Ter)
|
rs587776975
|
|
|
NM_001242896.3(DEPDC5):c.4108T>A (p.Cys1370Ser)
|
rs771269120
|
|
|
NM_001242896.3(DEPDC5):c.4119T>C (p.Tyr1373=)
|
|
|
|
NM_001242896.3(DEPDC5):c.411C>T (p.Ile137=)
|
|
|
|
NM_001242896.3(DEPDC5):c.4122C>A (p.Tyr1374Ter)
|
rs939021094
|
|
|
NM_001242896.3(DEPDC5):c.4122C>T (p.Tyr1374=)
|
rs939021094
|
|
|
NM_001242896.3(DEPDC5):c.4126G>A (p.Gly1376Ser)
|
rs1555929990
|
|
|
NM_001242896.3(DEPDC5):c.413+1G>A
|
|
|
|
NM_001242896.3(DEPDC5):c.413+5A>G
|
|
|
|
NM_001242896.3(DEPDC5):c.413+6T>C
|
rs748450091
|
|
|
NM_001242896.3(DEPDC5):c.413+8T>C
|
rs761285561
|
|
|
NM_001242896.3(DEPDC5):c.413+8T>G
|
|
|
|
NM_001242896.3(DEPDC5):c.4131C>G (p.Asn1377Lys)
|
|
|
|
NM_001242896.3(DEPDC5):c.4136C>A (p.Ser1379Tyr)
|
rs765244692
|
|
|
NM_001242896.3(DEPDC5):c.414-11_414-4del
|
|
|
|
NM_001242896.3(DEPDC5):c.414-18G>T
|
|
|
|
NM_001242896.3(DEPDC5):c.414-3C>G
|
|
|
|
NM_001242896.3(DEPDC5):c.414-7C>T
|
|
|
|
NM_001242896.3(DEPDC5):c.4144G>A (p.Ala1382Thr)
|
rs2093488105
|
|
|
NM_001242896.3(DEPDC5):c.414A>G (p.Arg138=)
|
rs200421648
|
|
|
NM_001242896.3(DEPDC5):c.4152del (p.Phe1384fs)
|
rs1339126434
|
|
|
NM_001242896.3(DEPDC5):c.4154A>C (p.Glu1385Ala)
|
rs2149378618
|
|
|
NM_001242896.3(DEPDC5):c.4155G>A (p.Glu1385=)
|
|
|
|
NM_001242896.3(DEPDC5):c.4156A>C (p.Ile1386Leu)
|
rs1555930038
|
|
|
NM_001242896.3(DEPDC5):c.4163T>C (p.Leu1388Pro)
|
rs1446980540
|
|
|
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.4183G>T (p.Ala1395Ser)
|
|
|
|
NM_001242896.3(DEPDC5):c.4187del (p.Ala1396fs)
|
rs886039271
|
|
|
NM_001242896.3(DEPDC5):c.418C>T (p.Gln140Ter)
|
rs786205703
|
|
|
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+1G>C
|
rs945102665
|
|
|
NM_001242896.3(DEPDC5):c.4203+8C>T
|
|
|
|
NM_001242896.3(DEPDC5):c.4204-1G>A
|
|
|
|
NM_001242896.3(DEPDC5):c.4204-3C>G
|
rs2149397030
|
|
|
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.4207C>T (p.Gln1403Ter)
|
rs1602903591
|
|
|
NM_001242896.3(DEPDC5):c.4210G>C (p.Gly1404Arg)
|
|
|
|
NM_001242896.3(DEPDC5):c.4227C>T (p.Ala1409=)
|
rs2149397128
|
|
|
NM_001242896.3(DEPDC5):c.4228_4245del (p.Thr1410_Leu1415del)
|
|
|
|
NM_001242896.3(DEPDC5):c.422C>T (p.Ala141Val)
|
|
|
|
NM_001242896.3(DEPDC5):c.422_423insCTGG (p.Gly142fs)
|
rs1601755632
|
|
|
NM_001242896.3(DEPDC5):c.4235G>C (p.Cys1412Ser)
|
|
|
|
NM_001242896.3(DEPDC5):c.4242C>T (p.Phe1414=)
|
|
|
|
NM_001242896.3(DEPDC5):c.4242_4243dup (p.Leu1415fs)
|
rs2149397188
|
|
|
NM_001242896.3(DEPDC5):c.424G>A (p.Gly142Ser)
|
|
|
|
NM_001242896.3(DEPDC5):c.4252C>G (p.Pro1418Ala)
|
|
|
|
NM_001242896.3(DEPDC5):c.425_427dup (p.Gly142dup)
|
rs761114750
|
|
|
NM_001242896.3(DEPDC5):c.4264G>A (p.Gly1422Arg)
|
rs2093575232
|
|
|
NM_001242896.3(DEPDC5):c.4270T>G (p.Phe1424Val)
|
|
|
|
NM_001242896.3(DEPDC5):c.4282A>G (p.Ser1428Gly)
|
|
|
|
NM_001242896.3(DEPDC5):c.4287C>A (p.Tyr1429Ter)
|
|
|
|
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.4290del (p.Tyr1431fs)
|
rs2149397518
|
|
|
NM_001242896.3(DEPDC5):c.4291_4294del (p.Tyr1431fs)
|
rs2093575654
|
|
|
NM_001242896.3(DEPDC5):c.4297G>A (p.Asp1433Asn)
|
rs766385762
|
|
|
NM_001242896.3(DEPDC5):c.42G>A (p.Lys14=)
|
|
|
|
NM_001242896.3(DEPDC5):c.4303dup (p.Leu1435fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.4306C>A (p.Arg1436Ser)
|
|
|
|
NM_001242896.3(DEPDC5):c.4309G>T (p.Ala1437Ser)
|
rs1555933951
|
|
|
NM_001242896.3(DEPDC5):c.431T>C (p.Leu144Pro)
|
|
|
|
NM_001242896.3(DEPDC5):c.4320C>T (p.Phe1440=)
|
|
|
|
NM_001242896.3(DEPDC5):c.4323C>G (p.Ile1441Met)
|
rs2149397656
|
|
|
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.4333A>G (p.Ile1445Val)
|
|
|
|
NM_001242896.3(DEPDC5):c.4335C>T (p.Ile1445=)
|
|
|
|
NM_001242896.3(DEPDC5):c.4338C>G (p.Ser1446Arg)
|
|
|
|
NM_001242896.3(DEPDC5):c.434G>A (p.Trp145Ter)
|
rs1060501488
|
|
|
NM_001242896.3(DEPDC5):c.4355G>A (p.Gly1452Asp)
|
|
|
|
NM_001242896.3(DEPDC5):c.4357dup (p.Ser1453fs)
|
rs2149397818
|
|
|
NM_001242896.3(DEPDC5):c.435G>A (p.Trp145Ter)
|
rs886039247
|
|
|
NM_001242896.3(DEPDC5):c.4360G>A (p.Glu1454Lys)
|
rs962190440
|
|
|
NM_001242896.3(DEPDC5):c.4364A>C (p.His1455Pro)
|
|
|
|
NM_001242896.3(DEPDC5):c.4367T>C (p.Leu1456Pro)
|
rs1362296192
|
|
|
NM_001242896.3(DEPDC5):c.436dup (p.Val146fs)
|
rs2148328679
|
|
|
NM_001242896.3(DEPDC5):c.4370T>G (p.Phe1457Cys)
|
rs2093577056
|
|
|
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.4376G>A (p.Ser1459Asn)
|
rs1245607244
|
|
|
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.4397G>A (p.Trp1466Ter)
|
rs886039273
|
|
|
NM_001242896.3(DEPDC5):c.4398G>A (p.Trp1466Ter)
|
rs2149419668
|
|
|
NM_001242896.3(DEPDC5):c.4402C>T (p.Arg1468Ter)
|
rs1016477183
|
|
|
NM_001242896.3(DEPDC5):c.4403G>A (p.Arg1468Gln)
|
rs780509997
|
|
|
NM_001242896.3(DEPDC5):c.4405A>G (p.Met1469Val)
|
rs2093652593
|
|
|
NM_001242896.3(DEPDC5):c.4408C>T (p.His1470Tyr)
|
rs1064795311
|
|
|
NM_001242896.3(DEPDC5):c.4410C>A (p.His1470Gln)
|
rs372176746
|
|
|
NM_001242896.3(DEPDC5):c.4411C>T (p.Leu1471Phe)
|
rs2149419770
|
|
|
NM_001242896.3(DEPDC5):c.4420G>T (p.Glu1474Ter)
|
|
|
|
NM_001242896.3(DEPDC5):c.4427T>C (p.Ile1476Thr)
|
rs2093653111
|
|
|
NM_001242896.3(DEPDC5):c.4436+12A>C
|
|
|
|
NM_001242896.3(DEPDC5):c.4436+18T>C
|
|
|
|
NM_001242896.3(DEPDC5):c.4436+1G>A
|
rs2149419886
|
|
|
NM_001242896.3(DEPDC5):c.4436+9C>T
|
|
|
|
NM_001242896.3(DEPDC5):c.4437-12G>T
|
|
|
|
NM_001242896.3(DEPDC5):c.4437-15C>G
|
rs755374231
|
|
|
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.4445T>C (p.Phe1482Ser)
|
rs2149447579
|
|
|
NM_001242896.3(DEPDC5):c.4446T>G (p.Phe1482Leu)
|
|
|
|
NM_001242896.3(DEPDC5):c.4446dup (p.Val1483fs)
|
rs1603014297
|
|
|
NM_001242896.3(DEPDC5):c.445G>A (p.Glu149Lys)
|
rs2084067532
|
|
|
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.4484C>G (p.Pro1495Arg)
|
rs2093751685
|
|
|
NM_001242896.3(DEPDC5):c.4485T>C (p.Pro1495=)
|
|
|
|
NM_001242896.3(DEPDC5):c.4488T>G (p.Ala1496=)
|
rs771101581
|
|
|
NM_001242896.3(DEPDC5):c.4501C>T (p.Gln1501Ter)
|
rs1603014708
|
|
|
NM_001242896.3(DEPDC5):c.4501_4502dup (p.Gln1501fs)
|
rs1569254004
|
|
|
NM_001242896.3(DEPDC5):c.4507A>G (p.Ile1503Val)
|
|
|
|
NM_001242896.3(DEPDC5):c.4508_4511dup (p.Val1505fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.4519+1G>A
|
rs1555942720
|
|
|
NM_001242896.3(DEPDC5):c.4519+20G>A
|
|
|
|
NM_001242896.3(DEPDC5):c.4519+20G>T
|
|
|
|
NM_001242896.3(DEPDC5):c.451del (p.Val151fs)
|
|
|
|
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.4520-2A>G
|
rs1555942859
|
|
|
NM_001242896.3(DEPDC5):c.4520-37_4520-14del
|
|
|
|
NM_001242896.3(DEPDC5):c.4520-8C>T
|
|
|
|
NM_001242896.3(DEPDC5):c.4530del (p.Leu1511fs)
|
rs2093755806
|
|
|
NM_001242896.3(DEPDC5):c.4532T>G (p.Leu1511Arg)
|
|
|
|
NM_001242896.3(DEPDC5):c.4541C>T (p.Pro1514Leu)
|
rs1294976211
|
|
|
NM_001242896.3(DEPDC5):c.4544_4545del (p.Tyr1515fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.454A>T (p.Met152Leu)
|
|
|
|
NM_001242896.3(DEPDC5):c.4553G>T (p.Arg1518Leu)
|
|
|
|
NM_001242896.3(DEPDC5):c.4554C>G (p.Arg1518=)
|
rs373077223
|
|
|
NM_001242896.3(DEPDC5):c.4559T>A (p.Phe1520Tyr)
|
rs2093756441
|
|
|
NM_001242896.3(DEPDC5):c.4563_4568del (p.Gly1522_Gln1523del)
|
|
|
|
NM_001242896.3(DEPDC5):c.4567C>T (p.Gln1523Ter)
|
rs797044546
|
|
|
NM_001242896.3(DEPDC5):c.4568A>C (p.Gln1523Pro)
|
rs2093756716
|
|
|
NM_001242896.3(DEPDC5):c.4568AGC[1] (p.Gln1524del)
|
rs1296781205
|
|
|
NM_001242896.3(DEPDC5):c.4570C>T (p.Gln1524Ter)
|
|
|
|
NM_001242896.3(DEPDC5):c.4573C>T (p.Arg1525Trp)
|
rs1223453056
|
|
|
NM_001242896.3(DEPDC5):c.4573CGG[5] (p.Arg1528_Asn1529insArg)
|
|
|
|
NM_001242896.3(DEPDC5):c.4576C>T (p.Arg1526Trp)
|
|
|
|
NM_001242896.3(DEPDC5):c.4579C>T (p.Arg1527Trp)
|
rs2093757123
|
|
|
NM_001242896.3(DEPDC5):c.4582C>A (p.Arg1528=)
|
rs2149448946
|
|
|
NM_001242896.3(DEPDC5):c.4586A>G (p.Asn1529Ser)
|
rs773450879
|
|
|
NM_001242896.3(DEPDC5):c.458G>A (p.Cys153Tyr)
|
rs2148328919
|
|
|
NM_001242896.3(DEPDC5):c.4592C>A (p.Thr1531Asn)
|
rs1064794532
|
|
|
NM_001242896.3(DEPDC5):c.4595G>A (p.Ser1532Asn)
|
|
|
|
NM_001242896.3(DEPDC5):c.4599C>T (p.Ser1533=)
|
rs2149449059
|
|
|
NM_001242896.3(DEPDC5):c.4605C>G (p.Asn1535Lys)
|
|
|
|
NM_001242896.3(DEPDC5):c.4606C>T (p.Gln1536Ter)
|
rs886039274
|
|
|
NM_001242896.3(DEPDC5):c.4608G>T (p.Gln1536His)
|
|
|
|
NM_001242896.3(DEPDC5):c.4619G>A (p.Cys1540Tyr)
|
|
|
|
NM_001242896.3(DEPDC5):c.4621G>A (p.Glu1541Lys)
|
rs2149449183
|
|
|
NM_001242896.3(DEPDC5):c.4627C>T (p.Arg1543Trp)
|
rs780294726
|
|
|
NM_001242896.3(DEPDC5):c.4630del (p.Val1544fs)
|
rs1569255443
|
|
|
NM_001242896.3(DEPDC5):c.4632C>T (p.Val1544=)
|
rs374597058
|
|
|
NM_001242896.3(DEPDC5):c.4633G>A (p.Gly1545Ser)
|
rs1229311796
|
|
|
NM_001242896.3(DEPDC5):c.4637A>G (p.Tyr1546Cys)
|
|
|
|
NM_001242896.3(DEPDC5):c.4638del (p.Gly1545_Tyr1546insTer)
|
|
|
|
NM_001242896.3(DEPDC5):c.4640A>G (p.Asn1547Ser)
|
|
|
|
NM_001242896.3(DEPDC5):c.4641C>T (p.Asn1547=)
|
|
|
|
NM_001242896.3(DEPDC5):c.4647C>G (p.Ala1549=)
|
rs1555943168
|
|
|
NM_001242896.3(DEPDC5):c.4649A>C (p.Tyr1550Ser)
|
|
|
|
NM_001242896.3(DEPDC5):c.4650C>G (p.Tyr1550Ter)
|
rs2093758918
|
|
|
NM_001242896.3(DEPDC5):c.4653C>T (p.Asn1551=)
|
rs2149449423
|
|
|
NM_001242896.3(DEPDC5):c.4656C>T (p.Thr1552=)
|
|
|
|
NM_001242896.3(DEPDC5):c.4657A>G (p.Met1553Val)
|
|
|
|
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.4671_4672del (p.Trp1558fs)
|
rs2149449522
|
|
|
NM_001242896.3(DEPDC5):c.4673G>A (p.Trp1558Ter)
|
rs2149449539
|
|
|
NM_001242896.3(DEPDC5):c.4675C>T (p.Arg1559Cys)
|
|
|
|
NM_001242896.3(DEPDC5):c.4676G>A (p.Arg1559His)
|
|
|
|
NM_001242896.3(DEPDC5):c.4677C>T (p.Arg1559=)
|
rs763285231
|
|
|
NM_001242896.3(DEPDC5):c.4684G>A (p.Ala1562Thr)
|
rs373645855
|
|
|
NM_001242896.3(DEPDC5):c.4684G>T (p.Ala1562Ser)
|
rs373645855
|
|
|
NM_001242896.3(DEPDC5):c.4685C>T (p.Ala1562Val)
|
|
|
|
NM_001242896.3(DEPDC5):c.4689_4690del (p.Gly1564_Asp1565insTer)
|
rs2149449670
|
|
|
NM_001242896.3(DEPDC5):c.4692_4693delinsTTT (p.Asp1565fs)
|
rs1569255986
|
|
|
NM_001242896.3(DEPDC5):c.4700A>G (p.Lys1567Arg)
|
|
|
|
NM_001242896.3(DEPDC5):c.4700del (p.Lys1567fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.4707T>G (p.Ala1569=)
|
|
|
|
NM_001242896.3(DEPDC5):c.470G>A (p.Ser157Asn)
|
|
|
|
NM_001242896.3(DEPDC5):c.4711C>A (p.Arg1571=)
|
rs778708641
|
|
|
NM_001242896.3(DEPDC5):c.4715T>A (p.Leu1572Gln)
|
rs1208729078
|
|
|
NM_001242896.3(DEPDC5):c.4729_4730delinsCT (p.Thr1577Leu)
|
rs2149449846
|
|
|
NM_001242896.3(DEPDC5):c.4737C>A (p.Phe1579Leu)
|
|
|
|
NM_001242896.3(DEPDC5):c.4737del (p.Cys1580fs)
|
rs2149449891
|
|
|
NM_001242896.3(DEPDC5):c.4738T>C (p.Cys1580Arg)
|
rs2093760699
|
|
|
NM_001242896.3(DEPDC5):c.4739G>A (p.Cys1580Tyr)
|
rs776213050
|
|
|
NM_001242896.3(DEPDC5):c.4739G>C (p.Cys1580Ser)
|
|
|
|
NM_001242896.3(DEPDC5):c.4747del (p.Arg1583fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.4748_4788delinsC (p.Arg1583fs)
|
rs2093761109
|
|
|
NM_001242896.3(DEPDC5):c.4749_4750insTT (p.Asp1584fs)
|
|
|
|
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.4762G>C (p.Val1588Leu)
|
rs2149450028
|
|
|
NM_001242896.3(DEPDC5):c.4763T>C (p.Val1588Ala)
|
|
|
|
NM_001242896.3(DEPDC5):c.4766C>T (p.Thr1589Met)
|
|
|
|
NM_001242896.3(DEPDC5):c.476A>G (p.Asp159Gly)
|
rs2148329131
|
|
|
NM_001242896.3(DEPDC5):c.4778G>T (p.Ser1593Ile)
|
rs1603019516
|
|
|
NM_001242896.3(DEPDC5):c.4779T>A (p.Ser1593Arg)
|
rs750919199
|
|
|
NM_001242896.3(DEPDC5):c.4779T>C (p.Ser1593=)
|
|
|
|
NM_001242896.3(DEPDC5):c.4790A>G (p.Lys1597Arg)
|
|
|
|
NM_001242896.3(DEPDC5):c.4793T>C (p.Met1598Thr)
|
rs1555943470
|
|
|
NM_001242896.3(DEPDC5):c.4808C>G (p.Pro1603Arg)
|
|
|
|
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.483+15del
|
|
|
|
NM_001242896.3(DEPDC5):c.483+1G>A
|
rs2084070588
|
|
|
NM_001242896.3(DEPDC5):c.483+2T>C
|
|
|
|
NM_001242896.3(DEPDC5):c.484-1G>A
|
rs886039249
|
|
|
NM_001242896.3(DEPDC5):c.484-2A>T
|
|
|
|
NM_001242896.3(DEPDC5):c.484-36_484-15del
|
|
|
|
NM_001242896.3(DEPDC5):c.489G>A (p.Val163=)
|
rs750213306
|
|
|
NM_001242896.3(DEPDC5):c.489_491del (p.Phe164del)
|
rs587776974
|
|
|
NM_001242896.3(DEPDC5):c.492_496del (p.Arg165fs)
|
rs886039250
|
|
|
NM_001242896.3(DEPDC5):c.492dup (p.Arg165fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.522_525del (p.Ile175fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.526C>T (p.Gln176Ter)
|
rs886039251
|
|
|
NM_001242896.3(DEPDC5):c.529A>G (p.Met177Val)
|
rs2148405162
|
|
|
NM_001242896.3(DEPDC5):c.530T>G (p.Met177Arg)
|
rs2084718245
|
|
|
NM_001242896.3(DEPDC5):c.533G>A (p.Ser178Asn)
|
|
|
|
NM_001242896.3(DEPDC5):c.534C>G (p.Ser178Arg)
|
|
|
|
NM_001242896.3(DEPDC5):c.534C>T (p.Ser178=)
|
|
|
|
NM_001242896.3(DEPDC5):c.542T>A (p.Met181Lys)
|
rs1060501486
|
|
|
NM_001242896.3(DEPDC5):c.543G>A (p.Met181Ile)
|
rs887378031
|
|
|
NM_001242896.3(DEPDC5):c.546G>A (p.Trp182Ter)
|
|
|
|
NM_001242896.3(DEPDC5):c.547G>A (p.Asp183Asn)
|
rs368985382
|
|
|
NM_001242896.3(DEPDC5):c.562+12A>G
|
|
|
|
NM_001242896.3(DEPDC5):c.562+1G>A
|
rs1057524233
|
|
|
NM_001242896.3(DEPDC5):c.562+6G>A
|
|
|
|
NM_001242896.3(DEPDC5):c.562+8_562+9del
|
rs754265066
|
|
|
NM_001242896.3(DEPDC5):c.563-15A>G
|
rs1466232803
|
|
|
NM_001242896.3(DEPDC5):c.563-3C>G
|
rs2084816247
|
|
|
NM_001242896.3(DEPDC5):c.563-8C>G
|
|
|
|
NM_001242896.3(DEPDC5):c.566A>T (p.Asp189Val)
|
rs2084816540
|
|
|
NM_001242896.3(DEPDC5):c.56G>C (p.Ser19Thr)
|
rs886039275
|
|
|
NM_001242896.3(DEPDC5):c.574T>C (p.Phe192Leu)
|
|
|
|
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+1G>A
|
|
|
|
NM_001242896.3(DEPDC5):c.58+2T>C
|
|
|
|
NM_001242896.3(DEPDC5):c.58+6T>C
|
rs2075195526
|
|
|
NM_001242896.3(DEPDC5):c.58+9C>T
|
|
|
|
NM_001242896.3(DEPDC5):c.582A>G (p.Lys194=)
|
|
|
|
NM_001242896.3(DEPDC5):c.59-1G>C
|
rs886039243
|
|
|
NM_001242896.3(DEPDC5):c.59-2A>G
|
|
|
|
NM_001242896.3(DEPDC5):c.59-3C>G
|
rs1064795947
|
|
|
NM_001242896.3(DEPDC5):c.59-3C>T
|
|
|
|
NM_001242896.3(DEPDC5):c.597C>T (p.Phe199=)
|
rs373004252
|
|
|
NM_001242896.3(DEPDC5):c.599T>C (p.Leu200Pro)
|
rs2148415428
|
|
|
NM_001242896.3(DEPDC5):c.602C>A (p.Ala201Asp)
|
rs1569519698
|
|
|
NM_001242896.3(DEPDC5):c.610T>C (p.Phe204Leu)
|
rs2084819937
|
|
|
NM_001242896.3(DEPDC5):c.613A>T (p.Thr205Ser)
|
|
|
|
NM_001242896.3(DEPDC5):c.624+14T>C
|
|
|
|
NM_001242896.3(DEPDC5):c.624+1G>A
|
rs886039252
|
|
|
NM_001242896.3(DEPDC5):c.624+5A>G
|
|
|
|
NM_001242896.3(DEPDC5):c.625-14C>T
|
|
|
|
NM_001242896.3(DEPDC5):c.625-19G>T
|
|
|
|
NM_001242896.3(DEPDC5):c.625-2A>G
|
rs1400868304
|
|
|
NM_001242896.3(DEPDC5):c.625-7T>G
|
rs1276867202
|
|
|
NM_001242896.3(DEPDC5):c.633C>T (p.Asn211=)
|
rs771270766
|
|
|
NM_001242896.3(DEPDC5):c.640C>G (p.His214Asp)
|
rs886039276
|
|
|
NM_001242896.3(DEPDC5):c.664T>C (p.Ser222Pro)
|
rs2148505001
|
|
|
NM_001242896.3(DEPDC5):c.674T>G (p.Phe225Cys)
|
|
|
|
NM_001242896.3(DEPDC5):c.674dup (p.Tyr226fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.675C>G (p.Phe225Leu)
|
|
|
|
NM_001242896.3(DEPDC5):c.677dup (p.Tyr226Ter)
|
rs2085727988
|
|
|
NM_001242896.3(DEPDC5):c.678T>G (p.Tyr226Ter)
|
|
|
|
NM_001242896.3(DEPDC5):c.680A>T (p.Asp227Val)
|
rs2148505198
|
|
|
NM_001242896.3(DEPDC5):c.689C>T (p.Ser230Phe)
|
|
|
|
NM_001242896.3(DEPDC5):c.691G>T (p.Val231Phe)
|
|
|
|
NM_001242896.3(DEPDC5):c.692T>C (p.Val231Ala)
|
rs2148505288
|
|
|
NM_001242896.3(DEPDC5):c.694+11A>G
|
|
|
|
NM_001242896.3(DEPDC5):c.694+1G>A
|
rs1601875057
|
|
|
NM_001242896.3(DEPDC5):c.694+3_694+6del
|
rs1351154360
|
|
|
NM_001242896.3(DEPDC5):c.694+5G>A
|
rs1060501485
|
|
|
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.695-3C>G
|
|
|
|
NM_001242896.3(DEPDC5):c.695-7A>G
|
|
|
|
NM_001242896.3(DEPDC5):c.695-9C>T
|
|
|
|
NM_001242896.3(DEPDC5):c.695A>G (p.Asp232Gly)
|
|
|
|
NM_001242896.3(DEPDC5):c.697G>T (p.Glu233Ter)
|
|
|
|
NM_001242896.3(DEPDC5):c.704C>G (p.Pro235Arg)
|
|
|
|
NM_001242896.3(DEPDC5):c.709A>G (p.Ile237Val)
|
|
|
|
NM_001242896.3(DEPDC5):c.715C>T (p.Arg239Ter)
|
rs587776976
|
|
|
NM_001242896.3(DEPDC5):c.716G>A (p.Arg239Gln)
|
rs371511498
|
|
|
NM_001242896.3(DEPDC5):c.716G>C (p.Arg239Pro)
|
|
|
|
NM_001242896.3(DEPDC5):c.718G>A (p.Ala240Thr)
|
rs761256495
|
|
|
NM_001242896.3(DEPDC5):c.719C>T (p.Ala240Val)
|
rs1335967704
|
|
|
NM_001242896.3(DEPDC5):c.71T>G (p.Val24Gly)
|
rs572660873
|
|
|
NM_001242896.3(DEPDC5):c.722C>G (p.Ser241Ter)
|
|
|
|
NM_001242896.3(DEPDC5):c.727C>T (p.Arg243Ter)
|
rs772872014
|
|
|
NM_001242896.3(DEPDC5):c.728G>T (p.Arg243Leu)
|
rs368129922
|
|
|
NM_001242896.3(DEPDC5):c.730C>T (p.Gln244Ter)
|
rs886039253
|
|
|
NM_001242896.3(DEPDC5):c.741G>A (p.Lys247=)
|
|
|
|
NM_001242896.3(DEPDC5):c.750C>G (p.Phe250Leu)
|
|
|
|
NM_001242896.3(DEPDC5):c.752A>G (p.Tyr251Cys)
|
rs1064796158
|
|
|
NM_001242896.3(DEPDC5):c.757G>T (p.Asp253Tyr)
|
|
|
|
NM_001242896.3(DEPDC5):c.765C>G (p.Tyr255Ter)
|
|
|
|
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+1G>A
|
rs2148514247
|
|
|
NM_001242896.3(DEPDC5):c.767+2T>C
|
|
|
|
NM_001242896.3(DEPDC5):c.767+8T>C
|
rs2148514359
|
|
|
NM_001242896.3(DEPDC5):c.768-17_768-15del
|
rs2086391348
|
|
|
NM_001242896.3(DEPDC5):c.768-2A>G
|
rs2086393945
|
|
|
NM_001242896.3(DEPDC5):c.768-4T>G
|
|
|
|
NM_001242896.3(DEPDC5):c.768-5_768-4del
|
rs1244483025
|
|
|
NM_001242896.3(DEPDC5):c.779A>G (p.Gln260Arg)
|
rs1601925119
|
|
|
NM_001242896.3(DEPDC5):c.783_786del (p.Asn261fs)
|
rs886039254
|
|
|
NM_001242896.3(DEPDC5):c.784G>T (p.Glu262Ter)
|
|
|
|
NM_001242896.3(DEPDC5):c.788_789del (p.Arg263fs)
|
rs1569523728
|
|
|
NM_001242896.3(DEPDC5):c.793G>A (p.Glu265Lys)
|
|
|
|
NM_001242896.3(DEPDC5):c.793_797del (p.Glu265fs)
|
rs1601925213
|
|
|
NM_001242896.3(DEPDC5):c.800G>A (p.Trp267Ter)
|
rs2148574616
|
|
|
NM_001242896.3(DEPDC5):c.807A>G (p.Ser269=)
|
|
|
|
NM_001242896.3(DEPDC5):c.80C>T (p.Pro27Leu)
|
rs1485949754
|
|
|
NM_001242896.3(DEPDC5):c.814G>T (p.Val272Leu)
|
rs187334123
|
|
|
NM_001242896.3(DEPDC5):c.819C>T (p.Thr273=)
|
|
|
|
NM_001242896.3(DEPDC5):c.828del (p.Lys276fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.829C>A (p.Leu277Ile)
|
|
|
|
NM_001242896.3(DEPDC5):c.829C>T (p.Leu277Phe)
|
rs778656662
|
|
|
NM_001242896.3(DEPDC5):c.82A>G (p.Lys28Glu)
|
rs2082124844
|
|
|
NM_001242896.3(DEPDC5):c.832_833del (p.Phe278fs)
|
rs2086398901
|
|
|
NM_001242896.3(DEPDC5):c.836T>A (p.Ile279Asn)
|
rs2086399384
|
|
|
NM_001242896.3(DEPDC5):c.837C>A (p.Ile279=)
|
|
|
|
NM_001242896.3(DEPDC5):c.83A>G (p.Lys28Arg)
|
|
|
|
NM_001242896.3(DEPDC5):c.842A>G (p.Tyr281Cys)
|
|
|
|
NM_001242896.3(DEPDC5):c.846A>C (p.Pro282=)
|
|
|
|
NM_001242896.3(DEPDC5):c.847G>A (p.Val283Met)
|
rs1569523754
|
|
|
NM_001242896.3(DEPDC5):c.847G>C (p.Val283Leu)
|
rs1569523754
|
|
|
NM_001242896.3(DEPDC5):c.850T>C (p.Leu284=)
|
|
|
|
NM_001242896.3(DEPDC5):c.856C>G (p.Arg286Gly)
|
|
|
|
NM_001242896.3(DEPDC5):c.856C>T (p.Arg286Ter)
|
rs886039255
|
|
|
NM_001242896.3(DEPDC5):c.857G>A (p.Arg286Gln)
|
|
|
|
NM_001242896.3(DEPDC5):c.859C>G (p.Leu287Val)
|
|
|
|
NM_001242896.3(DEPDC5):c.862G>T (p.Glu288Ter)
|
rs770620001
|
|
|
NM_001242896.3(DEPDC5):c.862del (p.Glu288fs)
|
rs2148575334
|
|
|
NM_001242896.3(DEPDC5):c.865C>T (p.Gln289Ter)
|
rs759952667
|
|
|
NM_001242896.3(DEPDC5):c.869C>T (p.Ala290Val)
|
rs2148575481
|
|
|
NM_001242896.3(DEPDC5):c.870A>G (p.Ala290=)
|
rs2148575505
|
|
|
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+1G>T
|
rs1556607762
|
|
|
NM_001242896.3(DEPDC5):c.871+7C>A
|
|
|
|
NM_001242896.3(DEPDC5):c.872-3C>T
|
rs2086521058
|
|
|
NM_001242896.3(DEPDC5):c.879T>C (p.Phe293=)
|
rs1335286901
|
|
|
NM_001242896.3(DEPDC5):c.880C>T (p.Pro294Ser)
|
rs2086522074
|
|
|
NM_001242896.3(DEPDC5):c.881C>T (p.Pro294Leu)
|
|
|
|
NM_001242896.3(DEPDC5):c.883C>T (p.Gln295Ter)
|
rs2148587476
|
|
|
NM_001242896.3(DEPDC5):c.884_886del (p.Gln295_Gly296delinsArg)
|
rs2148587515
|
|
|
NM_001242896.3(DEPDC5):c.88_89insA (p.Phe30fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.890A>G (p.Asp297Gly)
|
|
|
|
NM_001242896.3(DEPDC5):c.891T>C (p.Asp297=)
|
rs2086523675
|
|
|
NM_001242896.3(DEPDC5):c.898A>G (p.Thr300Ala)
|
|
|
|
NM_001242896.3(DEPDC5):c.899C>T (p.Thr300Ile)
|
|
|
|
NM_001242896.3(DEPDC5):c.8CAA[1] (p.Thr4del)
|
rs2075190242
|
|
|
NM_001242896.3(DEPDC5):c.907C>G (p.Gln303Glu)
|
rs1601935420
|
|
|
NM_001242896.3(DEPDC5):c.907del (p.Gln303fs)
|
|
|
|
NM_001242896.3(DEPDC5):c.908A>C (p.Gln303Pro)
|
rs765384973
|
|
|
NM_001242896.3(DEPDC5):c.911G>A (p.Gly304Glu)
|
|
|
|
NM_001242896.3(DEPDC5):c.914A>G (p.Asn305Ser)
|
|
|
|
NM_001242896.3(DEPDC5):c.916T>G (p.Tyr306Asp)
|
|
|
|
NM_001242896.3(DEPDC5):c.917A>G (p.Tyr306Cys)
|
|
|
|
NM_001242896.3(DEPDC5):c.918C>G (p.Tyr306Ter)
|
rs886039256
|
|
|
NM_001242896.3(DEPDC5):c.920T>G (p.Leu307Arg)
|
rs752537116
|
|
|
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.930C>G (p.Ile310Met)
|
|
|
|
NM_001242896.3(DEPDC5):c.938C>T (p.Ser313Leu)
|
rs2148587902
|
|
|
NM_001242896.3(DEPDC5):c.946+12T>C
|
rs372501483
|
|
|
NM_001242896.3(DEPDC5):c.946+17G>A
|
|
|
|
NM_001242896.3(DEPDC5):c.946+18C>T
|
rs1269926219
|
|
|
NM_001242896.3(DEPDC5):c.947-11T>C
|
|
|
|
NM_001242896.3(DEPDC5):c.947-1G>A
|
rs2148633437
|
|
|
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_001242896.3(DEPDC5):c.971G>A (p.Arg324His)
|
rs2087011135
|
|
|
NM_001242896.3(DEPDC5):c.974A>C (p.Asn325Thr)
|
|
|
|
NM_001242896.3(DEPDC5):c.974A>G (p.Asn325Ser)
|
rs2087011420
|
|
|
NM_001242896.3(DEPDC5):c.97A>G (p.Ile33Val)
|
rs368035159
|
|
|
NM_001242896.3(DEPDC5):c.982C>T (p.Arg328Ter)
|
rs587776977
|
|
|
NM_001242896.3(DEPDC5):c.985del (p.Thr329fs)
|
rs886039257
|
|
|
NM_001242896.3(DEPDC5):c.991C>T (p.Gln331Ter)
|
|
|
|
NM_001242896.3(DEPDC5):c.994A>G (p.Met332Val)
|
rs763154977
|
|
|
NM_001271.4(CHD2):c.149G>A (p.Gly50Asp)
|
rs1555437424
|
|
|
NM_001271.4(CHD2):c.4829C>T (p.Ala1610Val)
|
rs1555445693
|
|
|
NM_001283009.2(RTEL1):c.691G>T (p.Asp231Tyr)
|
|
|
|
NM_001320643.3(LOC102724428):c.379C>T (p.Arg127Trp)
|
rs1555841977
|
|
|
NM_001322830.2(KCNMA1):c.3620A>G (p.Lys1207Arg)
|
|
|
|
NM_001350451.2(RBFOX3):c.1002C>A (p.Tyr334Ter)
|
rs972548690
|
|
|
NM_001365999.1(SZT2):c.105C>G (p.Phe35Leu)
|
rs1553138299
|
|
|
NM_001365999.1(SZT2):c.5938G>A (p.Val1980Met)
|
rs780805483
|
|
|
NM_001365999.1(SZT2):c.8803C>T (p.Arg2935Trp)
|
rs1553154643
|
|
|
NM_001492.6(GDF1):c.1044CTT[1] (p.Phe350del)
|
rs1232905914
|
|
|
NM_001492.6(GDF1):c.456GGC[6] (p.Ala158dup)
|
rs571387097
|
|
|
NM_003114.5(SPAG1):c.2542del (p.Asp848fs)
|
rs886037653
|
|
|
NM_003114.5(SPAG1):c.679G>T (p.Glu227Ter)
|
rs397518459
|
|
|
NM_003995.4(NPR2):c.1032T>G (p.Tyr344Ter)
|
rs1588057922
|
|
|
NM_003995.4(NPR2):c.2794C>T (p.Arg932Cys)
|
rs760285654
|
|
|
NM_003995.4(NPR2):c.2966G>A (p.Arg989Gln)
|
rs771373457
|
|
|
NM_003995.4(NPR2):c.2966G>T (p.Arg989Leu)
|
rs771373457
|
|
|
NM_003995.4(NPR2):c.3059G>A (p.Arg1020Gln)
|
rs770815149
|
|
|
NM_004287.4(GOSR2):c.-64G>T
|
rs886053076
|
|
|
NM_004287.4(GOSR2):c.[336+1G>A];[430G>T]
|
|
|
|
NM_004287.5(GOSR2):c.*1105A>T
|
rs780111337
|
|
|
NM_004287.5(GOSR2):c.*1711G>A
|
rs11657819
|
|
|
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.*288_*296dup
|
rs376212419
|
|
|
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.-12G>C
|
rs183199
|
|
|
NM_004287.5(GOSR2):c.-20T>G
|
rs886053077
|
|
|
NM_004287.5(GOSR2):c.-30G>C
|
rs189899
|
|
|
NM_004287.5(GOSR2):c.-7C>G
|
rs760018200
|
|
|
NM_004287.5(GOSR2):c.101A>G (p.Glu34Gly)
|
rs1598980284
|
|
|
NM_004287.5(GOSR2):c.103A>G (p.Asn35Asp)
|
rs2087304609
|
|
|
NM_004287.5(GOSR2):c.106G>A (p.Glu36Lys)
|
|
|
|
NM_004287.5(GOSR2):c.10C>T (p.Leu4=)
|
|
|
|
NM_004287.5(GOSR2):c.121A>G (p.Ile41Val)
|
|
|
|
NM_004287.5(GOSR2):c.122T>C (p.Ile41Thr)
|
rs2087307019
|
|
|
NM_004287.5(GOSR2):c.136A>G (p.Ser46Gly)
|
rs534119817
|
|
|
NM_004287.5(GOSR2):c.15C>G (p.Phe5Leu)
|
rs2085950798
|
|
|
NM_004287.5(GOSR2):c.15C>T (p.Phe5=)
|
|
|
|
NM_004287.5(GOSR2):c.161del (p.Leu54fs)
|
rs2146892080
|
|
|
NM_004287.5(GOSR2):c.162G>T (p.Leu54Phe)
|
|
|
|
NM_004287.5(GOSR2):c.167G>T (p.Ser56Ile)
|
rs751458272
|
|
|
NM_004287.5(GOSR2):c.169A>G (p.Lys57Glu)
|
|
|
|
NM_004287.5(GOSR2):c.16C>T (p.Gln6Ter)
|
rs2146691974
|
|
|
NM_004287.5(GOSR2):c.176C>T (p.Pro59Leu)
|
rs1252615412
|
|
|
NM_004287.5(GOSR2):c.186_187del (p.Arg63fs)
|
|
|
|
NM_004287.5(GOSR2):c.199_200delinsCA (p.Arg67Gln)
|
rs1555709548
|
|
|
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.204-1G>T
|
rs1187190721
|
|
|
NM_004287.5(GOSR2):c.204-8A>C
|
|
|
|
NM_004287.5(GOSR2):c.204-9C>T
|
|
|
|
NM_004287.5(GOSR2):c.205C>A (p.Arg69=)
|
rs770149230
|
|
|
NM_004287.5(GOSR2):c.206G>A (p.Arg69Gln)
|
rs780211637
|
|
|
NM_004287.5(GOSR2):c.20A>G (p.Gln7Arg)
|
rs2085951116
|
|
|
NM_004287.5(GOSR2):c.210del (p.Asp71fs)
|
rs2146911959
|
|
|
NM_004287.5(GOSR2):c.213C>A (p.Asp71Glu)
|
rs199930484
|
|
|
NM_004287.5(GOSR2):c.219A>G (p.Leu73=)
|
|
|
|
NM_004287.5(GOSR2):c.221dup (p.Tyr75fs)
|
|
|
|
NM_004287.5(GOSR2):c.226G>C (p.Asp76His)
|
rs2146912195
|
|
|
NM_004287.5(GOSR2):c.22dup (p.Thr8fs)
|
rs746855352
|
|
|
NM_004287.5(GOSR2):c.235C>T (p.His79Tyr)
|
rs1568171907
|
|
|
NM_004287.5(GOSR2):c.251T>C (p.Leu84Pro)
|
rs2087482910
|
|
|
NM_004287.5(GOSR2):c.258C>G (p.Asn86Lys)
|
rs1598988935
|
|
|
NM_004287.5(GOSR2):c.262C>T (p.Gln88Ter)
|
|
|
|
NM_004287.5(GOSR2):c.262del (p.Gln88fs)
|
rs776869841
|
|
|
NM_004287.5(GOSR2):c.271C>T (p.Arg91Cys)
|
rs2087485301
|
|
|
NM_004287.5(GOSR2):c.278C>T (p.Ala93Val)
|
rs2146913099
|
|
|
NM_004287.5(GOSR2):c.283G>A (p.Glu95Lys)
|
rs2146913169
|
|
|
NM_004287.5(GOSR2):c.285G>C (p.Glu95Asp)
|
rs2146913197
|
|
|
NM_004287.5(GOSR2):c.29+13C>A
|
|
|
|
NM_004287.5(GOSR2):c.29+17G>A
|
|
|
|
NM_004287.5(GOSR2):c.298C>A (p.Gln100Lys)
|
rs759305157
|
|
|
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.300G>C (p.Gln100His)
|
rs2087488656
|
|
|
NM_004287.5(GOSR2):c.302G>A (p.Arg101Gln)
|
|
|
|
NM_004287.5(GOSR2):c.319C>T (p.Arg107Ter)
|
rs201616211
|
|
|
NM_004287.5(GOSR2):c.31C>G (p.Gln11Glu)
|
rs2146850344
|
|
|
NM_004287.5(GOSR2):c.320G>C (p.Arg107Pro)
|
rs750960207
|
|
|
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.337-2A>G
|
rs1568177307
|
|
|
NM_004287.5(GOSR2):c.337-6dup
|
rs2146971287
|
|
|
NM_004287.5(GOSR2):c.350C>T (p.Thr117Ile)
|
rs1599019391
|
|
|
NM_004287.5(GOSR2):c.354A>G (p.Ile118Met)
|
|
|
|
NM_004287.5(GOSR2):c.363C>T (p.Asp121=)
|
rs886053078
|
|
|
NM_004287.5(GOSR2):c.374A>G (p.Gln125Arg)
|
|
|
|
NM_004287.5(GOSR2):c.380A>G (p.Asn127Ser)
|
|
|
|
NM_004287.5(GOSR2):c.381C>T (p.Asn127=)
|
rs761272920
|
|
|
NM_004287.5(GOSR2):c.383C>A (p.Ser128Tyr)
|
|
|
|
NM_004287.5(GOSR2):c.390C>T (p.Leu130=)
|
|
|
|
NM_004287.5(GOSR2):c.397G>A (p.Val133Ile)
|
|
|
|
NM_004287.5(GOSR2):c.3G>A (p.Met1Ile)
|
rs1174104260
|
|
|
NM_004287.5(GOSR2):c.3G>T (p.Met1Ile)
|
|
|
|
NM_004287.5(GOSR2):c.406G>A (p.Gly136Ser)
|
|
|
|
NM_004287.5(GOSR2):c.428A>T (p.Asp143Val)
|
rs2088079257
|
|
|
NM_004287.5(GOSR2):c.432_449del (p.His145_Gly150del)
|
rs1381386644
|
|
|
NM_004287.5(GOSR2):c.435C>T (p.His145=)
|
rs1599020227
|
|
|
NM_004287.5(GOSR2):c.437A>G (p.Asn146Ser)
|
|
|
|
NM_004287.5(GOSR2):c.439A>G (p.Ile147Val)
|
rs757363374
|
|
|
NM_004287.5(GOSR2):c.446A>G (p.Asp149Gly)
|
rs2088083666
|
|
|
NM_004287.5(GOSR2):c.460_461dup (p.Gln154fs)
|
|
|
|
NM_004287.5(GOSR2):c.477+19del
|
rs755765859
|
|
|
NM_004287.5(GOSR2):c.477+6G>T
|
rs1568177911
|
|
|
NM_004287.5(GOSR2):c.478-14C>T
|
rs1203026971
|
|
|
NM_004287.5(GOSR2):c.478-6C>T
|
|
|
|
NM_004287.5(GOSR2):c.478-7_478-6insAGAACAGAAG
|
|
|
|
NM_004287.5(GOSR2):c.478G>C (p.Gly160Arg)
|
|
|
|
NM_004287.5(GOSR2):c.47A>C (p.Gln16Pro)
|
rs746688685
|
|
|
NM_004287.5(GOSR2):c.480G>T (p.Gly160=)
|
|
|
|
NM_004287.5(GOSR2):c.485AGA[2] (p.Lys164del)
|
rs863223401
|
|
|
NM_004287.5(GOSR2):c.494T>C (p.Ile165Thr)
|
|
|
|
NM_004287.5(GOSR2):c.4G>A (p.Asp2Asn)
|
rs1425442098
|
|
|
NM_004287.5(GOSR2):c.506C>G (p.Ala169Gly)
|
rs2088814830
|
|
|
NM_004287.5(GOSR2):c.50C>T (p.Ser17Phe)
|
|
|
|
NM_004287.5(GOSR2):c.524C>A (p.Ser175Tyr)
|
|
|
|
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.539G>A (p.Arg180Gln)
|
rs1348639194
|
|
|
NM_004287.5(GOSR2):c.557_584del (p.Ala186fs)
|
rs796052541
|
|
|
NM_004287.5(GOSR2):c.568A>G (p.Lys190Glu)
|
rs765094724
|
|
|
NM_004287.5(GOSR2):c.578T>C (p.Met193Thr)
|
rs1328118330
|
|
|
NM_004287.5(GOSR2):c.596T>C (p.Leu199Pro)
|
|
|
|
NM_004287.5(GOSR2):c.609C>T (p.Val203=)
|
|
|
|
NM_004287.5(GOSR2):c.611T>G (p.Met204Arg)
|
rs2147051685
|
|
|
NM_004287.5(GOSR2):c.618C>T (p.Leu206=)
|
|
|
|
NM_004287.5(GOSR2):c.619G>T (p.Val207Leu)
|
rs780839289
|
|
|
NM_004287.5(GOSR2):c.631C>T (p.Leu211=)
|
rs2147052221
|
|
|
NM_004287.5(GOSR2):c.634A>G (p.Thr212Ala)
|
rs956070241
|
|
|
NM_004287.5(GOSR2):c.639A>G (p.Ter213Trp)
|
rs2147052419
|
|
|
NM_004287.5(GOSR2):c.6T>A (p.Asp2Glu)
|
|
|
|
NM_004287.5(GOSR2):c.6T>C (p.Asp2=)
|
rs757594881
|
|
|
NM_004287.5(GOSR2):c.79A>C (p.Lys27Gln)
|
rs760997502
|
|
|
NM_004287.5(GOSR2):c.7C>A (p.Pro3Thr)
|
rs12944167
|
|
|
NM_004287.5(GOSR2):c.7C>G (p.Pro3Ala)
|
rs12944167
|
|
|
NM_004287.5(GOSR2):c.7C>T (p.Pro3Ser)
|
rs12944167
|
|
|
NM_004287.5(GOSR2):c.82C>T (p.Gln28Ter)
|
rs1466441723
|
|
|
NM_004287.5(GOSR2):c.89_90del (p.Val30fs)
|
rs1330994397
|
|
|
NM_004287.5(GOSR2):c.92A>G (p.His31Arg)
|
|
|
|
NM_004287.5(GOSR2):c.94+12A>T
|
|
|
|
NM_004287.5(GOSR2):c.94+16_94+17del
|
rs780992578
|
|
|
NM_004287.5(GOSR2):c.94A>G (p.Ile32Val)
|
rs2086996915
|
|
|
NM_004287.5(GOSR2):c.95-17T>C
|
rs553054493
|
|
|
NM_004287.5(GOSR2):c.95-1G>C
|
rs1186314496
|
|
|
NM_004287.5(GOSR2):c.95-6G>T
|
rs1345182096
|
|
|
NM_004287.5(GOSR2):c.95-7T>G
|
rs752611190
|
|
|
NM_004287.5(GOSR2):c.96A>G (p.Ile32Met)
|
rs2146890867
|
|
|
NM_004287.5(GOSR2):c.99A>G (p.Val33=)
|
rs1555709339
|
|
|
NM_004287.5(GOSR2):c.9C>G (p.Pro3=)
|
rs750589437
|
|
|
NM_004366.6(CLCN2):c.2270C>T (p.Ala757Val)
|
|
|
|
NM_004519.4(KCNQ3):c.1142C>T (p.Ala381Val)
|
rs1554626549
|
|
|
NM_005025.4(SERPINI1):c.*256dupT
|
rs547381979
|
|
|
NM_005045.4(RELN):c.-24GGC[10] (p.Met1_Glu2insGlyGly)
|
rs55656324
|
|
|
NM_005045.4(RELN):c.-5_1dup (p.Met(?_1)_Met1(?))
|
|
|
|
NM_005045.4(RELN):c.1000C>T (p.Arg334Cys)
|
|
|
|
NM_005045.4(RELN):c.10015A>C (p.Met3339Leu)
|
|
|
|
NM_005045.4(RELN):c.1001G>T (p.Arg334Leu)
|
rs146922726
|
|
|
NM_005045.4(RELN):c.10022A>G (p.Gln3341Arg)
|
rs752958651
|
|
|
NM_005045.4(RELN):c.10037A>G (p.Asn3346Ser)
|
rs1192573356
|
|
|
NM_005045.4(RELN):c.10038C>A (p.Asn3346Lys)
|
|
|
|
NM_005045.4(RELN):c.10039A>C (p.Ser3347Arg)
|
rs1450247215
|
|
|
NM_005045.4(RELN):c.10040G>A (p.Ser3347Asn)
|
rs1828326766
|
|
|
NM_005045.4(RELN):c.10049G>A (p.Ser3350Asn)
|
|
|
|
NM_005045.4(RELN):c.10052G>T (p.Gly3351Val)
|
rs2116978384
|
|
|
NM_005045.4(RELN):c.10054C>A (p.Pro3352Thr)
|
rs1202492754
|
|
|
NM_005045.4(RELN):c.10059C>T (p.His3353=)
|
|
|
|
NM_005045.4(RELN):c.10065G>A (p.Val3355=)
|
|
|
|
NM_005045.4(RELN):c.10100A>G (p.Asn3367Ser)
|
|
|
|
NM_005045.4(RELN):c.10106T>C (p.Ile3369Thr)
|
|
|
|
NM_005045.4(RELN):c.10135C>T (p.Pro3379Ser)
|
rs1288993333
|
|
|
NM_005045.4(RELN):c.1015T>C (p.Tyr339His)
|
rs2115780671
|
|
|
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.10181+7G>A
|
rs1554360619
|
|
|
NM_005045.4(RELN):c.10182-18C>T
|
|
|
|
NM_005045.4(RELN):c.10189C>T (p.Arg3397Trp)
|
|
|
|
NM_005045.4(RELN):c.10191G>A (p.Arg3397=)
|
rs1350446371
|
|
|
NM_005045.4(RELN):c.10207C>G (p.Leu3403Val)
|
rs2116975944
|
|
|
NM_005045.4(RELN):c.10211G>A (p.Arg3404His)
|
rs1473736832
|
|
|
NM_005045.4(RELN):c.10225C>T (p.Arg3409Cys)
|
|
|
|
NM_005045.4(RELN):c.10226G>A (p.Arg3409His)
|
|
|
|
NM_005045.4(RELN):c.1022C>G (p.Ala341Gly)
|
|
|
|
NM_005045.4(RELN):c.1022C>T (p.Ala341Val)
|
rs1467885013
|
|
|
NM_005045.4(RELN):c.10231A>G (p.Asn3411Asp)
|
|
|
|
NM_005045.4(RELN):c.10233T>C (p.Asn3411=)
|
rs2116975846
|
|
|
NM_005045.4(RELN):c.10248T>A (p.Asp3416Glu)
|
rs1828293057
|
|
|
NM_005045.4(RELN):c.10251A>C (p.Gln3417His)
|
|
|
|
NM_005045.4(RELN):c.10252T>C (p.Trp3418Arg)
|
|
|
|
NM_005045.4(RELN):c.10255G>T (p.Ala3419Ser)
|
rs2116975803
|
|
|
NM_005045.4(RELN):c.10266T>C (p.His3422=)
|
|
|
|
NM_005045.4(RELN):c.10273G>A (p.Val3425Ile)
|
rs2116975749
|
|
|
NM_005045.4(RELN):c.10273GTC[1] (p.Val3426del)
|
rs1159588480
|
|
|
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.102_103delinsTT (p.Pro35Ser)
|
rs2116860248
|
|
|
NM_005045.4(RELN):c.10303T>C (p.Tyr3435His)
|
rs1827903281
|
|
|
NM_005045.4(RELN):c.10306A>G (p.Met3436Val)
|
rs1257276738
|
|
|
NM_005045.4(RELN):c.10307TGA[1] (p.Met3437del)
|
rs1406481652
|
|
|
NM_005045.4(RELN):c.10322_10324del (p.Arg3441del)
|
rs770480930
|
|
|
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.10340A>G (p.His3447Arg)
|
|
|
|
NM_005045.4(RELN):c.10352G>T (p.Arg3451Ile)
|
rs2116945728
|
|
|
NM_005045.4(RELN):c.1037A>G (p.Asp346Gly)
|
|
|
|
NM_005045.4(RELN):c.10381T>C (p.Ter3461Arg)
|
|
|
|
NM_005045.4(RELN):c.1038T>C (p.Asp346=)
|
|
|
|
NM_005045.4(RELN):c.1045T>C (p.Leu349=)
|
rs777083831
|
|
|
NM_005045.4(RELN):c.1051A>G (p.Ile351Val)
|
|
|
|
NM_005045.4(RELN):c.105CTT[1] (p.Phe38del)
|
rs1563127968
|
|
|
NM_005045.4(RELN):c.1063C>T (p.His355Tyr)
|
|
|
|
NM_005045.4(RELN):c.1068A>G (p.Arg356=)
|
rs761077554
|
|
|
NM_005045.4(RELN):c.1093G>A (p.Asp365Asn)
|
|
|
|
NM_005045.4(RELN):c.109T>C (p.Phe37Leu)
|
|
|
|
NM_005045.4(RELN):c.1117C>A (p.Leu373Ile)
|
rs1421351225
|
|
|
NM_005045.4(RELN):c.1117C>T (p.Leu373Phe)
|
|
|
|
NM_005045.4(RELN):c.1119T>G (p.Leu373=)
|
|
|
|
NM_005045.4(RELN):c.1126C>T (p.Pro376Ser)
|
|
|
|
NM_005045.4(RELN):c.1129G>A (p.Gly377Arg)
|
rs2115780068
|
|
|
NM_005045.4(RELN):c.1136C>T (p.Thr379Ile)
|
|
|
|
NM_005045.4(RELN):c.1143+15dup
|
rs758452731
|
|
|
NM_005045.4(RELN):c.1143+18T>C
|
|
|
|
NM_005045.4(RELN):c.1143+4A>G
|
rs1834010100
|
|
|
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.1144C>T (p.His382Tyr)
|
|
|
|
NM_005045.4(RELN):c.1145A>G (p.His382Arg)
|
rs756299850
|
|
|
NM_005045.4(RELN):c.114C>T (p.Phe38=)
|
rs2116860210
|
|
|
NM_005045.4(RELN):c.1153C>G (p.Gln385Glu)
|
rs1833669763
|
|
|
NM_005045.4(RELN):c.115C>T (p.Leu39=)
|
|
|
|
NM_005045.4(RELN):c.1166A>G (p.Asn389Ser)
|
rs2115696295
|
|
|
NM_005045.4(RELN):c.1173T>G (p.Ile391Met)
|
rs2115696262
|
|
|
NM_005045.4(RELN):c.1179C>T (p.Phe393=)
|
|
|
|
NM_005045.4(RELN):c.1180C>T (p.His394Tyr)
|
|
|
|
NM_005045.4(RELN):c.1181A>G (p.His394Arg)
|
|
|
|
NM_005045.4(RELN):c.1184G>A (p.Gly395Glu)
|
|
|
|
NM_005045.4(RELN):c.1185A>G (p.Gly395=)
|
rs2115696164
|
|
|
NM_005045.4(RELN):c.1192G>A (p.Gly398Ser)
|
|
|
|
NM_005045.4(RELN):c.1193G>C (p.Gly398Ala)
|
rs766992224
|
|
|
NM_005045.4(RELN):c.1194C>T (p.Gly398=)
|
rs761288381
|
|
|
NM_005045.4(RELN):c.1198G>A (p.Glu400Lys)
|
|
|
|
NM_005045.4(RELN):c.1205A>G (p.Asn402Ser)
|
|
|
|
NM_005045.4(RELN):c.1206T>C (p.Asn402=)
|
|
|
|
NM_005045.4(RELN):c.1214C>T (p.Thr405Ile)
|
|
|
|
NM_005045.4(RELN):c.1215C>A (p.Thr405=)
|
rs2115695904
|
|
|
NM_005045.4(RELN):c.1225G>A (p.Val409Ile)
|
rs1833667563
|
|
|
NM_005045.4(RELN):c.1227A>G (p.Val409=)
|
|
|
|
NM_005045.4(RELN):c.1231C>T (p.Leu411Phe)
|
rs144978163
|
|
|
NM_005045.4(RELN):c.124C>T (p.His42Tyr)
|
|
|
|
NM_005045.4(RELN):c.1250A>G (p.Gln417Arg)
|
rs1554402126
|
|
|
NM_005045.4(RELN):c.1257A>G (p.Gln419=)
|
rs2115695469
|
|
|
NM_005045.4(RELN):c.1265A>G (p.Glu422Gly)
|
|
|
|
NM_005045.4(RELN):c.1278C>G (p.Ser426Arg)
|
rs755465811
|
|
|
NM_005045.4(RELN):c.1286C>T (p.Thr429Ile)
|
rs1833665870
|
|
|
NM_005045.4(RELN):c.1289+13T>C
|
|
|
|
NM_005045.4(RELN):c.1289+4A>G
|
|
|
|
NM_005045.4(RELN):c.1289+4dup
|
rs1833665764
|
|
|
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.1290-12dup
|
|
|
|
NM_005045.4(RELN):c.1290-15C>T
|
|
|
|
NM_005045.4(RELN):c.1290-16C>T
|
|
|
|
NM_005045.4(RELN):c.1290-3del
|
rs146986040
|
|
|
NM_005045.4(RELN):c.1290-3dup
|
rs146986040
|
|
|
NM_005045.4(RELN):c.1290-5T>C
|
|
|
|
NM_005045.4(RELN):c.1296T>A (p.Asp432Glu)
|
|
|
|
NM_005045.4(RELN):c.1299C>T (p.Val433=)
|
|
|
|
NM_005045.4(RELN):c.1313T>C (p.Ile438Thr)
|
rs1463687606
|
|
|
NM_005045.4(RELN):c.1327G>A (p.Gly443Arg)
|
|
|
|
NM_005045.4(RELN):c.1332G>A (p.Thr444=)
|
|
|
|
NM_005045.4(RELN):c.1338A>T (p.Glu446Asp)
|
rs766146040
|
|
|
NM_005045.4(RELN):c.1344C>T (p.Gly448=)
|
rs144150588
|
|
|
NM_005045.4(RELN):c.1351A>G (p.Met451Val)
|
|
|
|
NM_005045.4(RELN):c.1352T>C (p.Met451Thr)
|
rs1833139566
|
|
|
NM_005045.4(RELN):c.1359C>T (p.Phe453=)
|
rs1288349555
|
|
|
NM_005045.4(RELN):c.135G>A (p.Glu45=)
|
|
|
|
NM_005045.4(RELN):c.1361T>C (p.Leu454Pro)
|
rs1833139042
|
|
|
NM_005045.4(RELN):c.1367A>T (p.Asp456Val)
|
|
|
|
NM_005045.4(RELN):c.1372G>C (p.Glu458Gln)
|
|
|
|
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.1394C>T (p.Ser465Phe)
|
rs111409626
|
|
|
NM_005045.4(RELN):c.13G>A (p.Gly5Ser)
|
|
|
|
NM_005045.4(RELN):c.1401C>T (p.Asp467=)
|
|
|
|
NM_005045.4(RELN):c.1402A>T (p.Thr468Ser)
|
rs1833136675
|
|
|
NM_005045.4(RELN):c.1415G>A (p.Gly472Glu)
|
rs2117412664
|
|
|
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.1441+5G>A
|
rs1402939542
|
|
|
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.1445G>A (p.Gly482Glu)
|
|
|
|
NM_005045.4(RELN):c.1456C>T (p.Pro486Ser)
|
|
|
|
NM_005045.4(RELN):c.1464T>G (p.Asn488Lys)
|
rs1832980117
|
|
|
NM_005045.4(RELN):c.1469A>G (p.His490Arg)
|
|
|
|
NM_005045.4(RELN):c.1470T>C (p.His490=)
|
|
|
|
NM_005045.4(RELN):c.1475del (p.Asn492fs)
|
|
|
|
NM_005045.4(RELN):c.1505G>C (p.Gly502Ala)
|
rs1382483563
|
|
|
NM_005045.4(RELN):c.1515G>A (p.Glu505=)
|
|
|
|
NM_005045.4(RELN):c.1516C>T (p.His506Tyr)
|
|
|
|
NM_005045.4(RELN):c.1519A>G (p.Ile507Val)
|
|
|
|
NM_005045.4(RELN):c.1525C>G (p.Leu509Val)
|
|
|
|
NM_005045.4(RELN):c.1528G>A (p.Asp510Asn)
|
|
|
|
NM_005045.4(RELN):c.1533C>A (p.Thr511=)
|
|
|
|
NM_005045.4(RELN):c.1550A>T (p.Tyr517Phe)
|
rs750093812
|
|
|
NM_005045.4(RELN):c.1552A>G (p.Lys518Glu)
|
rs1832977510
|
|
|
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.1555-4A>G
|
|
|
|
NM_005045.4(RELN):c.1555G>A (p.Val519Ile)
|
rs560704715
|
|
|
NM_005045.4(RELN):c.1555G>C (p.Val519Leu)
|
rs560704715
|
|
|
NM_005045.4(RELN):c.1556T>C (p.Val519Ala)
|
rs1832948997
|
|
|
NM_005045.4(RELN):c.1559C>T (p.Pro520Leu)
|
|
|
|
NM_005045.4(RELN):c.1581C>T (p.Ile527=)
|
|
|
|
NM_005045.4(RELN):c.1583A>G (p.Asn528Ser)
|
rs1217281315
|
|
|
NM_005045.4(RELN):c.1586C>T (p.Pro529Leu)
|
|
|
|
NM_005045.4(RELN):c.1591C>A (p.Leu531Ile)
|
|
|
|
NM_005045.4(RELN):c.15C>A (p.Gly5=)
|
rs1455461778
|
|
|
NM_005045.4(RELN):c.1620C>T (p.Leu540=)
|
|
|
|
NM_005045.4(RELN):c.1621A>G (p.Arg541Gly)
|
rs1562941047
|
|
|
NM_005045.4(RELN):c.1623G>A (p.Arg541=)
|
|
|
|
NM_005045.4(RELN):c.1633C>T (p.His545Tyr)
|
|
|
|
NM_005045.4(RELN):c.1638A>C (p.Gln546His)
|
rs1832946111
|
|
|
NM_005045.4(RELN):c.1640G>A (p.Gly547Glu)
|
|
|
|
NM_005045.4(RELN):c.1647T>A (p.Asn549Lys)
|
rs1832945895
|
|
|
NM_005045.4(RELN):c.1649G>A (p.Arg550Lys)
|
rs773589573
|
|
|
NM_005045.4(RELN):c.1650G>C (p.Arg550Ser)
|
rs2117391616
|
|
|
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.1684C>T (p.Pro562Ser)
|
rs2117391501
|
|
|
NM_005045.4(RELN):c.1699A>G (p.Thr567Ala)
|
|
|
|
NM_005045.4(RELN):c.1702A>G (p.Met568Val)
|
|
|
|
NM_005045.4(RELN):c.1706C>G (p.Ser569Cys)
|
rs2117391403
|
|
|
NM_005045.4(RELN):c.1711A>C (p.Met571Leu)
|
|
|
|
NM_005045.4(RELN):c.1711A>G (p.Met571Val)
|
rs2117391388
|
|
|
NM_005045.4(RELN):c.1713G>T (p.Met571Ile)
|
|
|
|
NM_005045.4(RELN):c.1715T>C (p.Ile572Thr)
|
|
|
|
NM_005045.4(RELN):c.171T>C (p.Ile57=)
|
|
|
|
NM_005045.4(RELN):c.1726A>C (p.Ile576Leu)
|
|
|
|
NM_005045.4(RELN):c.1734G>A (p.Leu578=)
|
rs727504126
|
|
|
NM_005045.4(RELN):c.1735G>A (p.Gly579Arg)
|
rs1584378671
|
|
|
NM_005045.4(RELN):c.173C>T (p.Ser58Phe)
|
rs1797168998
|
|
|
NM_005045.4(RELN):c.1745C>A (p.Thr582Lys)
|
|
|
|
NM_005045.4(RELN):c.1745C>T (p.Thr582Met)
|
rs1038574999
|
|
|
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.1753C>G (p.Pro585Ala)
|
|
|
|
NM_005045.4(RELN):c.1760A>G (p.Asn587Ser)
|
rs1562940963
|
|
|
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.1763+5_1763+6delinsTT
|
rs2117391274
|
|
|
NM_005045.4(RELN):c.1763+6A>T
|
rs1832942524
|
|
|
NM_005045.4(RELN):c.1763+9_1763+22del
|
|
|
|
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.1765G>A (p.Val589Ile)
|
rs1199009421
|
|
|
NM_005045.4(RELN):c.1784C>T (p.Thr595Ile)
|
rs2117389352
|
|
|
NM_005045.4(RELN):c.1789C>T (p.His597Tyr)
|
rs779014769
|
|
|
NM_005045.4(RELN):c.1791T>G (p.His597Gln)
|
|
|
|
NM_005045.4(RELN):c.179A>G (p.His60Arg)
|
rs1584425634
|
|
|
NM_005045.4(RELN):c.1806C>T (p.Ser602=)
|
|
|
|
NM_005045.4(RELN):c.1808T>G (p.Leu603Arg)
|
rs2117389224
|
|
|
NM_005045.4(RELN):c.1830T>A (p.Pro610=)
|
rs2117389164
|
|
|
NM_005045.4(RELN):c.1841C>A (p.Ala614Asp)
|
rs1832918061
|
|
|
NM_005045.4(RELN):c.1860C>A (p.His620Gln)
|
|
|
|
NM_005045.4(RELN):c.1864A>G (p.Thr622Ala)
|
rs2117389074
|
|
|
NM_005045.4(RELN):c.187G>T (p.Gly63Cys)
|
|
|
|
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.1901G>A (p.Arg634Gln)
|
rs779205093
|
|
|
NM_005045.4(RELN):c.1902A>C (p.Arg634=)
|
rs2117386132
|
|
|
NM_005045.4(RELN):c.1903A>T (p.Ile635Leu)
|
rs1411192424
|
|
|
NM_005045.4(RELN):c.1911T>G (p.Ile637Met)
|
rs2117386083
|
|
|
NM_005045.4(RELN):c.1914C>T (p.Pro638=)
|
rs2117386074
|
|
|
NM_005045.4(RELN):c.191A>G (p.Asn64Ser)
|
|
|
|
NM_005045.4(RELN):c.1923C>G (p.Asn641Lys)
|
|
|
|
NM_005045.4(RELN):c.1931T>C (p.Leu644Pro)
|
|
|
|
NM_005045.4(RELN):c.1936C>G (p.Arg646Gly)
|
rs115831287
|
|
|
NM_005045.4(RELN):c.193C>T (p.Pro65Ser)
|
rs1797168163
|
|
|
NM_005045.4(RELN):c.1941C>T (p.Asn647=)
|
|
|
|
NM_005045.4(RELN):c.1945A>G (p.Arg649Gly)
|
|
|
|
NM_005045.4(RELN):c.1951C>T (p.Arg651Cys)
|
rs749565108
|
|
|
NM_005045.4(RELN):c.195C>T (p.Pro65=)
|
rs2116859980
|
|
|
NM_005045.4(RELN):c.1969C>G (p.Pro657Ala)
|
|
|
|
NM_005045.4(RELN):c.196A>G (p.Thr66Ala)
|
rs751673305
|
|
|
NM_005045.4(RELN):c.1985T>C (p.Met662Thr)
|
|
|
|
NM_005045.4(RELN):c.1A>G (p.Met1Val)
|
rs1218893617
|
|
|
NM_005045.4(RELN):c.2001T>A (p.Asn667Lys)
|
|
|
|
NM_005045.4(RELN):c.2002+1G>A
|
|
|
|
NM_005045.4(RELN):c.2002+20A>G
|
|
|
|
NM_005045.4(RELN):c.2002+4A>G
|
|
|
|
NM_005045.4(RELN):c.2002+7G>A
|
|
|
|
NM_005045.4(RELN):c.2003-12dup
|
rs768288120
|
|
|
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.2009T>C (p.Ile670Thr)
|
rs1832676819
|
|
|
NM_005045.4(RELN):c.2013C>G (p.Gly671=)
|
|
|
|
NM_005045.4(RELN):c.2015C>G (p.Pro672Arg)
|
|
|
|
NM_005045.4(RELN):c.2039G>T (p.Gly680Val)
|
rs1562935595
|
|
|
NM_005045.4(RELN):c.2042G>A (p.Arg681Lys)
|
|
|
|
NM_005045.4(RELN):c.205G>A (p.Val69Ile)
|
|
|
|
NM_005045.4(RELN):c.2060A>C (p.His687Pro)
|
rs755685024
|
|
|
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.2070-3C>A
|
|
|
|
NM_005045.4(RELN):c.2071T>G (p.Cys691Gly)
|
rs1562933794
|
|
|
NM_005045.4(RELN):c.2075del (p.Asp692fs)
|
|
|
|
NM_005045.4(RELN):c.2078C>G (p.Pro693Arg)
|
rs1832583360
|
|
|
NM_005045.4(RELN):c.2082A>C (p.Gly694=)
|
rs996259654
|
|
|
NM_005045.4(RELN):c.2086dup (p.Ser696fs)
|
rs1832583187
|
|
|
NM_005045.4(RELN):c.208C>A (p.Pro70Thr)
|
rs773680003
|
|
|
NM_005045.4(RELN):c.2101G>A (p.Glu701Lys)
|
rs2117351742
|
|
|
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.2124A>C (p.Pro708=)
|
|
|
|
NM_005045.4(RELN):c.2125A>T (p.Met709Leu)
|
rs114577182
|
|
|
NM_005045.4(RELN):c.2127G>A (p.Met709Ile)
|
rs2117351623
|
|
|
NM_005045.4(RELN):c.2130T>C (p.Phe710=)
|
|
|
|
NM_005045.4(RELN):c.2149A>G (p.Ser717Gly)
|
rs2117351584
|
|
|
NM_005045.4(RELN):c.2156G>C (p.Arg719Thr)
|
|
|
|
NM_005045.4(RELN):c.2158C>G (p.Leu720Val)
|
rs1554395337
|
|
|
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.2207T>G (p.Phe736Cys)
|
|
|
|
NM_005045.4(RELN):c.2231G>A (p.Gly744Asp)
|
rs1268141513
|
|
|
NM_005045.4(RELN):c.2234A>G (p.Lys745Arg)
|
|
|
|
NM_005045.4(RELN):c.224A>G (p.His75Arg)
|
rs770570216
|
|
|
NM_005045.4(RELN):c.224A>T (p.His75Leu)
|
rs770570216
|
|
|
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+5G>A
|
|
|
|
NM_005045.4(RELN):c.226+6T>C
|
|
|
|
NM_005045.4(RELN):c.226+9C>T
|
|
|
|
NM_005045.4(RELN):c.226+9del
|
rs753152149
|
|
|
NM_005045.4(RELN):c.2261G>A (p.Arg754Gln)
|
rs1294568040
|
|
|
NM_005045.4(RELN):c.2263C>T (p.Arg755Cys)
|
rs1832577812
|
|
|
NM_005045.4(RELN):c.2268G>A (p.Gln756=)
|
|
|
|
NM_005045.4(RELN):c.2268G>C (p.Gln756His)
|
|
|
|
NM_005045.4(RELN):c.227-13_227-10del
|
rs1584364699
|
|
|
NM_005045.4(RELN):c.227-16C>G
|
|
|
|
NM_005045.4(RELN):c.227-17del
|
rs561211301
|
|
|
NM_005045.4(RELN):c.227-26dup
|
rs561211301
|
|
|
NM_005045.4(RELN):c.227-3C>T
|
|
|
|
NM_005045.4(RELN):c.227-8C>T
|
|
|
|
NM_005045.4(RELN):c.2280T>A (p.Ser760=)
|
rs1182042456
|
|
|
NM_005045.4(RELN):c.2281T>C (p.Phe761Leu)
|
|
|
|
NM_005045.4(RELN):c.2288A>G (p.Asp763Gly)
|
rs794727998
|
|
|
NM_005045.4(RELN):c.2297A>G (p.Gln766Arg)
|
rs2117351011
|
|
|
NM_005045.4(RELN):c.22C>T (p.Arg8Trp)
|
|
|
|
NM_005045.4(RELN):c.2303+13A>T
|
rs749050816
|
|
|
NM_005045.4(RELN):c.2303+1G>A
|
rs2117350995
|
|
|
NM_005045.4(RELN):c.2303+2T>G
|
|
|
|
NM_005045.4(RELN):c.2303+6T>G
|
|
|
|
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.2325A>C (p.Arg775Ser)
|
rs2117349022
|
|
|
NM_005045.4(RELN):c.2328G>A (p.Leu776=)
|
|
|
|
NM_005045.4(RELN):c.233T>C (p.Ile78Thr)
|
|
|
|
NM_005045.4(RELN):c.2344C>T (p.Leu782=)
|
rs909588341
|
|
|
NM_005045.4(RELN):c.2349C>A (p.Ser783Arg)
|
|
|
|
NM_005045.4(RELN):c.2359G>A (p.Ala787Thr)
|
rs1254113534
|
|
|
NM_005045.4(RELN):c.2359G>T (p.Ala787Ser)
|
rs1254113534
|
|
|
NM_005045.4(RELN):c.2364del (p.Asp789fs)
|
rs2117348851
|
|
|
NM_005045.4(RELN):c.2370G>A (p.Gln790=)
|
|
|
|
NM_005045.4(RELN):c.2374G>C (p.Gly792Arg)
|
|
|
|
NM_005045.4(RELN):c.2388G>T (p.Leu796Phe)
|
|
|
|
NM_005045.4(RELN):c.2392C>A (p.His798Asn)
|
rs794727996
|
|
|
NM_005045.4(RELN):c.2396A>G (p.Tyr799Cys)
|
rs2117348731
|
|
|
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.2431G>C (p.Glu811Gln)
|
|
|
|
NM_005045.4(RELN):c.2439T>C (p.Tyr813=)
|
rs2117348607
|
|
|
NM_005045.4(RELN):c.2452T>C (p.Tyr818His)
|
|
|
|
NM_005045.4(RELN):c.245C>A (p.Thr82Asn)
|
rs368049573
|
|
|
NM_005045.4(RELN):c.2460G>A (p.Glu820=)
|
rs1832558211
|
|
|
NM_005045.4(RELN):c.2461C>G (p.Pro821Ala)
|
rs988934092
|
|
|
NM_005045.4(RELN):c.2461C>T (p.Pro821Ser)
|
rs988934092
|
|
|
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.2465+2T>G
|
|
|
|
NM_005045.4(RELN):c.2466-4C>G
|
|
|
|
NM_005045.4(RELN):c.2466-7del
|
rs571882672
|
|
|
NM_005045.4(RELN):c.2466-7dup
|
rs571882672
|
|
|
NM_005045.4(RELN):c.2466-8T>C
|
|
|
|
NM_005045.4(RELN):c.2466-8_2466-7del
|
|
|
|
NM_005045.4(RELN):c.2466-9T>C
|
rs750702751
|
|
|
NM_005045.4(RELN):c.2476G>T (p.Val826Leu)
|
|
|
|
NM_005045.4(RELN):c.2477T>C (p.Val826Ala)
|
rs1554394300
|
|
|
NM_005045.4(RELN):c.2482C>G (p.Leu828Val)
|
rs1832419963
|
|
|
NM_005045.4(RELN):c.249T>C (p.Phe83=)
|
|
|
|
NM_005045.4(RELN):c.2531C>T (p.Pro844Leu)
|
rs797045000
|
|
|
NM_005045.4(RELN):c.2532G>C (p.Pro844=)
|
rs113842330
|
|
|
NM_005045.4(RELN):c.2550AGA[1] (p.Glu851del)
|
|
|
|
NM_005045.4(RELN):c.2557G>A (p.Val853Ile)
|
rs1832418242
|
|
|
NM_005045.4(RELN):c.2563G>A (p.Ala855Thr)
|
rs1269098020
|
|
|
NM_005045.4(RELN):c.2567T>C (p.Ile856Thr)
|
|
|
|
NM_005045.4(RELN):c.2581A>G (p.Met861Val)
|
|
|
|
NM_005045.4(RELN):c.2584A>G (p.Thr862Ala)
|
rs1832417485
|
|
|
NM_005045.4(RELN):c.2590G>A (p.Val864Met)
|
|
|
|
NM_005045.4(RELN):c.25C>G (p.Gln9Glu)
|
rs1797174077
|
|
|
NM_005045.4(RELN):c.2604C>G (p.Ser868Arg)
|
rs1426251919
|
|
|
NM_005045.4(RELN):c.2608A>G (p.Ser870Gly)
|
rs2117333045
|
|
|
NM_005045.4(RELN):c.2619T>C (p.Phe873=)
|
|
|
|
NM_005045.4(RELN):c.2620A>G (p.Thr874Ala)
|
|
|
|
NM_005045.4(RELN):c.2634G>A (p.Glu878=)
|
|
|
|
NM_005045.4(RELN):c.2643G>A (p.Gln881=)
|
|
|
|
NM_005045.4(RELN):c.265G>C (p.Val89Leu)
|
rs778154915
|
|
|
NM_005045.4(RELN):c.2686C>A (p.His896Asn)
|
|
|
|
NM_005045.4(RELN):c.2686C>T (p.His896Tyr)
|
|
|
|
NM_005045.4(RELN):c.2691C>G (p.Asp897Glu)
|
|
|
|
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.2702+5G>C
|
rs1832414756
|
|
|
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.2703-3C>T
|
|
|
|
NM_005045.4(RELN):c.2708C>T (p.Thr903Ile)
|
|
|
|
NM_005045.4(RELN):c.2709A>G (p.Thr903=)
|
rs2117291992
|
|
|
NM_005045.4(RELN):c.2717C>G (p.Ser906Cys)
|
rs1174257090
|
|
|
NM_005045.4(RELN):c.2721A>T (p.Lys907Asn)
|
rs1831966221
|
|
|
NM_005045.4(RELN):c.2722C>A (p.Leu908Ile)
|
rs767519770
|
|
|
NM_005045.4(RELN):c.2724T>C (p.Leu908=)
|
|
|
|
NM_005045.4(RELN):c.2724T>G (p.Leu908=)
|
|
|
|
NM_005045.4(RELN):c.2725G>A (p.Ala909Thr)
|
rs1167526294
|
|
|
NM_005045.4(RELN):c.2734A>G (p.Met912Val)
|
|
|
|
NM_005045.4(RELN):c.2759T>C (p.Met920Thr)
|
|
|
|
NM_005045.4(RELN):c.2765T>C (p.Ile922Thr)
|
|
|
|
NM_005045.4(RELN):c.2770G>A (p.Ala924Thr)
|
|
|
|
NM_005045.4(RELN):c.2786A>G (p.Gln929Arg)
|
|
|
|
NM_005045.4(RELN):c.2787G>A (p.Gln929=)
|
rs2117291748
|
|
|
NM_005045.4(RELN):c.278A>G (p.Tyr93Cys)
|
|
|
|
NM_005045.4(RELN):c.2794T>C (p.Leu932=)
|
|
|
|
NM_005045.4(RELN):c.2797G>T (p.Val933Leu)
|
rs2117291698
|
|
|
NM_005045.4(RELN):c.279C>T (p.Tyr93=)
|
rs2116670576
|
|
|
NM_005045.4(RELN):c.2805A>T (p.Gly935=)
|
|
|
|
NM_005045.4(RELN):c.2810G>C (p.Gly937Ala)
|
rs756821721
|
|
|
NM_005045.4(RELN):c.2820C>T (p.Tyr940=)
|
rs944317418
|
|
|
NM_005045.4(RELN):c.2822_2836del (p.Thr941_Asp945del)
|
rs1831961846
|
|
|
NM_005045.4(RELN):c.282A>G (p.Thr94=)
|
rs1795500689
|
|
|
NM_005045.4(RELN):c.2837A>G (p.Asn946Ser)
|
|
|
|
NM_005045.4(RELN):c.2846A>C (p.Lys949Thr)
|
rs1237046940
|
|
|
NM_005045.4(RELN):c.2848C>G (p.Leu950Val)
|
|
|
|
NM_005045.4(RELN):c.2850G>A (p.Leu950=)
|
|
|
|
NM_005045.4(RELN):c.2856C>T (p.Tyr952=)
|
rs1562921907
|
|
|
NM_005045.4(RELN):c.2861C>G (p.Thr954Ser)
|
rs2117291489
|
|
|
NM_005045.4(RELN):c.2862C>G (p.Thr954=)
|
|
|
|
NM_005045.4(RELN):c.2862C>T (p.Thr954=)
|
rs1831960601
|
|
|
NM_005045.4(RELN):c.2872C>G (p.Leu958Val)
|
|
|
|
NM_005045.4(RELN):c.2877C>T (p.Thr959=)
|
|
|
|
NM_005045.4(RELN):c.2887G>A (p.Val963Ile)
|
|
|
|
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.2895+6T>A
|
|
|
|
NM_005045.4(RELN):c.2896-11del
|
rs2117289186
|
|
|
NM_005045.4(RELN):c.2896-13_2896-10del
|
|
|
|
NM_005045.4(RELN):c.2896G>T (p.Glu966Ter)
|
|
|
|
NM_005045.4(RELN):c.289A>G (p.Ser97Gly)
|
|
|
|
NM_005045.4(RELN):c.28A>G (p.Thr10Ala)
|
|
|
|
NM_005045.4(RELN):c.28A>T (p.Thr10Ser)
|
rs1584425962
|
|
|
NM_005045.4(RELN):c.2905C>G (p.Pro969Ala)
|
rs747794244
|
|
|
NM_005045.4(RELN):c.2907A>G (p.Pro969=)
|
rs780891394
|
|
|
NM_005045.4(RELN):c.2913G>A (p.Met971Ile)
|
|
|
|
NM_005045.4(RELN):c.2917A>G (p.Ser973Gly)
|
|
|
|
NM_005045.4(RELN):c.292G>A (p.Val98Ile)
|
|
|
|
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.2975G>A (p.Arg992Lys)
|
rs1831932455
|
|
|
NM_005045.4(RELN):c.2981T>G (p.Val994Gly)
|
|
|
|
NM_005045.4(RELN):c.2983A>G (p.Ile995Val)
|
|
|
|
NM_005045.4(RELN):c.2989C>T (p.Leu997Phe)
|
rs362691
|
|
|
NM_005045.4(RELN):c.2992C>G (p.Leu998Val)
|
rs201003473
|
|
|
NM_005045.4(RELN):c.2999A>G (p.Gln1000Arg)
|
rs772586514
|
|
|
NM_005045.4(RELN):c.3005C>T (p.Thr1002Ile)
|
rs1376812440
|
|
|
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.3020C>G (p.Thr1007Ser)
|
rs1831766309
|
|
|
NM_005045.4(RELN):c.3023G>A (p.Arg1008His)
|
|
|
|
NM_005045.4(RELN):c.3030C>T (p.Arg1010=)
|
rs375739415
|
|
|
NM_005045.4(RELN):c.3036C>G (p.Ser1012Arg)
|
rs777222017
|
|
|
NM_005045.4(RELN):c.3036C>T (p.Ser1012=)
|
|
|
|
NM_005045.4(RELN):c.303A>G (p.Ser101=)
|
|
|
|
NM_005045.4(RELN):c.3040A>C (p.Ser1014Arg)
|
|
|
|
NM_005045.4(RELN):c.3041G>A (p.Ser1014Asn)
|
|
|
|
NM_005045.4(RELN):c.3044A>G (p.Tyr1015Cys)
|
|
|
|
NM_005045.4(RELN):c.3050C>T (p.Thr1017Ile)
|
|
|
|
NM_005045.4(RELN):c.3057A>G (p.Gln1019=)
|
|
|
|
NM_005045.4(RELN):c.3061G>A (p.Glu1021Lys)
|
|
|
|
NM_005045.4(RELN):c.306G>A (p.Gln102=)
|
|
|
|
NM_005045.4(RELN):c.307A>G (p.Ser103Gly)
|
rs749901976
|
|
|
NM_005045.4(RELN):c.3095A>C (p.Gln1032Pro)
|
|
|
|
NM_005045.4(RELN):c.3096G>A (p.Gln1032=)
|
rs767711257
|
|
|
NM_005045.4(RELN):c.3099C>T (p.Cys1033=)
|
|
|
|
NM_005045.4(RELN):c.309C>T (p.Ser103=)
|
|
|
|
NM_005045.4(RELN):c.3106A>G (p.Met1036Val)
|
|
|
|
NM_005045.4(RELN):c.3119A>G (p.His1040Arg)
|
|
|
|
NM_005045.4(RELN):c.311T>C (p.Ile104Thr)
|
rs764845581
|
|
|
NM_005045.4(RELN):c.3124T>A (p.Ser1042Thr)
|
rs1831762160
|
|
|
NM_005045.4(RELN):c.3126A>C (p.Ser1042=)
|
|
|
|
NM_005045.4(RELN):c.3128G>A (p.Cys1043Tyr)
|
|
|
|
NM_005045.4(RELN):c.3130G>A (p.Asp1044Asn)
|
|
|
|
NM_005045.4(RELN):c.3131A>T (p.Asp1044Val)
|
rs2117274001
|
|
|
NM_005045.4(RELN):c.3133C>T (p.His1045Tyr)
|
rs1554389286
|
|
|
NM_005045.4(RELN):c.3139A>C (p.Ile1047Leu)
|
rs778716913
|
|
|
NM_005045.4(RELN):c.3147-9C>G
|
rs1831729606
|
|
|
NM_005045.4(RELN):c.3152A>G (p.Asp1051Gly)
|
|
|
|
NM_005045.4(RELN):c.3158G>A (p.Gly1053Glu)
|
rs1831728723
|
|
|
NM_005045.4(RELN):c.3165A>G (p.Gln1055=)
|
|
|
|
NM_005045.4(RELN):c.3167G>A (p.Gly1056Asp)
|
rs1831728302
|
|
|
NM_005045.4(RELN):c.3170C>T (p.Thr1057Ile)
|
|
|
|
NM_005045.4(RELN):c.3171T>C (p.Thr1057=)
|
rs2117271796
|
|
|
NM_005045.4(RELN):c.3176G>A (p.Cys1059Tyr)
|
rs1831727885
|
|
|
NM_005045.4(RELN):c.3178C>T (p.His1060Tyr)
|
|
|
|
NM_005045.4(RELN):c.3180C>G (p.His1060Gln)
|
|
|
|
NM_005045.4(RELN):c.3184G>A (p.Glu1062Lys)
|
rs1287038020
|
|
|
NM_005045.4(RELN):c.3199T>A (p.Ser1067Thr)
|
rs2117271684
|
|
|
NM_005045.4(RELN):c.3205A>G (p.Ile1069Val)
|
rs963460771
|
|
|
NM_005045.4(RELN):c.3209T>C (p.Met1070Thr)
|
rs1554389059
|
|
|
NM_005045.4(RELN):c.3215del (p.Asp1072fs)
|
rs1831725857
|
|
|
NM_005045.4(RELN):c.3234C>T (p.Gly1078=)
|
|
|
|
NM_005045.4(RELN):c.3246C>A (p.Asp1082Glu)
|
rs1562917138
|
|
|
NM_005045.4(RELN):c.3259A>G (p.Ile1087Val)
|
rs1243933034
|
|
|
NM_005045.4(RELN):c.3263G>C (p.Gly1088Ala)
|
|
|
|
NM_005045.4(RELN):c.3271A>C (p.Ile1091Leu)
|
|
|
|
NM_005045.4(RELN):c.3274G>A (p.Val1092Ile)
|
rs2117271353
|
|
|
NM_005045.4(RELN):c.3277A>C (p.Lys1093Gln)
|
|
|
|
NM_005045.4(RELN):c.3282A>G (p.Pro1094=)
|
rs1281926093
|
|
|
NM_005045.4(RELN):c.3292T>C (p.Cys1098Arg)
|
|
|
|
NM_005045.4(RELN):c.32T>G (p.Phe11Cys)
|
rs764120718
|
|
|
NM_005045.4(RELN):c.3300C>T (p.Val1100=)
|
|
|
|
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.3316T>C (p.Ser1106Pro)
|
|
|
|
NM_005045.4(RELN):c.3328A>C (p.Ser1110Arg)
|
rs757668683
|
|
|
NM_005045.4(RELN):c.3329G>A (p.Ser1110Asn)
|
|
|
|
NM_005045.4(RELN):c.3331A>G (p.Lys1111Glu)
|
|
|
|
NM_005045.4(RELN):c.3333+8C>T
|
rs1482310315
|
|
|
NM_005045.4(RELN):c.3334-19T>A
|
|
|
|
NM_005045.4(RELN):c.3339G>T (p.Gly1113=)
|
rs1831543602
|
|
|
NM_005045.4(RELN):c.3340A>G (p.Lys1114Glu)
|
|
|
|
NM_005045.4(RELN):c.3346C>T (p.Gln1116Ter)
|
|
|
|
NM_005045.4(RELN):c.3351G>C (p.Leu1117=)
|
rs1584329052
|
|
|
NM_005045.4(RELN):c.3353T>C (p.Val1118Ala)
|
|
|
|
NM_005045.4(RELN):c.337+10T>G
|
rs2116670302
|
|
|
NM_005045.4(RELN):c.337+11C>G
|
|
|
|
NM_005045.4(RELN):c.337+4A>T
|
rs1326392159
|
|
|
NM_005045.4(RELN):c.3378G>A (p.Trp1126Ter)
|
rs2117255208
|
|
|
NM_005045.4(RELN):c.3379G>A (p.Val1127Met)
|
rs1160249328
|
|
|
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.338G>A (p.Gly113Glu)
|
|
|
|
NM_005045.4(RELN):c.3402C>A (p.Ile1134=)
|
|
|
|
NM_005045.4(RELN):c.3403C>G (p.Gln1135Glu)
|
rs1831542452
|
|
|
NM_005045.4(RELN):c.3405_3406delinsTT (p.Gln1135_Ile1136delinsHisLeu)
|
rs2117255146
|
|
|
NM_005045.4(RELN):c.3429C>T (p.Cys1143=)
|
|
|
|
NM_005045.4(RELN):c.343A>C (p.Met115Leu)
|
rs1793329222
|
|
|
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.3451G>C (p.Glu1151Gln)
|
|
|
|
NM_005045.4(RELN):c.3455G>A (p.Gly1152Asp)
|
rs1831541293
|
|
|
NM_005045.4(RELN):c.3457G>A (p.Val1153Ile)
|
|
|
|
NM_005045.4(RELN):c.3463dup (p.Leu1155fs)
|
rs1831540987
|
|
|
NM_005045.4(RELN):c.346T>A (p.Ser116Thr)
|
rs1793329078
|
|
|
NM_005045.4(RELN):c.346T>C (p.Ser116Pro)
|
rs1793329078
|
|
|
NM_005045.4(RELN):c.3479A>G (p.Asn1160Ser)
|
|
|
|
NM_005045.4(RELN):c.3483G>A (p.Gly1161=)
|
rs1254504314
|
|
|
NM_005045.4(RELN):c.3485dup (p.Ile1163fs)
|
rs1831540545
|
|
|
NM_005045.4(RELN):c.3496C>T (p.His1166Tyr)
|
rs1166173010
|
|
|
NM_005045.4(RELN):c.3515A>G (p.Tyr1172Cys)
|
|
|
|
NM_005045.4(RELN):c.352C>T (p.His118Tyr)
|
rs1793328921
|
|
|
NM_005045.4(RELN):c.3539+15G>C
|
|
|
|
NM_005045.4(RELN):c.3540-16A>T
|
|
|
|
NM_005045.4(RELN):c.3541T>G (p.Phe1181Val)
|
rs773320636
|
|
|
NM_005045.4(RELN):c.3548A>G (p.Tyr1183Cys)
|
|
|
|
NM_005045.4(RELN):c.3552_3553delinsTA (p.Glu1185Lys)
|
rs1831492761
|
|
|
NM_005045.4(RELN):c.3562G>A (p.Ala1188Thr)
|
rs2117250423
|
|
|
NM_005045.4(RELN):c.3576C>T (p.Thr1192=)
|
rs768983701
|
|
|
NM_005045.4(RELN):c.3598T>G (p.Trp1200Gly)
|
rs1831491786
|
|
|
NM_005045.4(RELN):c.35T>G (p.Leu12Arg)
|
|
|
|
NM_005045.4(RELN):c.3606C>A (p.Pro1202=)
|
|
|
|
NM_005045.4(RELN):c.3606C>T (p.Pro1202=)
|
rs747919198
|
|
|
NM_005045.4(RELN):c.3615_3616del (p.Glu1207fs)
|
|
|
|
NM_005045.4(RELN):c.3618G>A (p.Gly1206=)
|
|
|
|
NM_005045.4(RELN):c.3619_3620inv (p.Glu1207Ser)
|
|
|
|
NM_005045.4(RELN):c.3620A>G (p.Glu1207Gly)
|
|
|
|
NM_005045.4(RELN):c.3630C>T (p.Asp1210=)
|
|
|
|
NM_005045.4(RELN):c.3643G>A (p.Asp1215Asn)
|
rs1252404801
|
|
|
NM_005045.4(RELN):c.3648C>T (p.Asp1216=)
|
rs2117250164
|
|
|
NM_005045.4(RELN):c.3655A>G (p.Ile1219Val)
|
rs1057524179
|
|
|
NM_005045.4(RELN):c.3660G>A (p.Leu1220=)
|
|
|
|
NM_005045.4(RELN):c.3665A>T (p.Glu1222Val)
|
rs2117250095
|
|
|
NM_005045.4(RELN):c.3670C>G (p.Gln1224Glu)
|
rs549360134
|
|
|
NM_005045.4(RELN):c.3680T>C (p.Ile1227Thr)
|
rs1584326923
|
|
|
NM_005045.4(RELN):c.3691A>G (p.Ile1231Val)
|
|
|
|
NM_005045.4(RELN):c.3708T>G (p.Pro1236=)
|
|
|
|
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.3745A>G (p.Met1249Val)
|
rs148751867
|
|
|
NM_005045.4(RELN):c.374T>C (p.Met125Thr)
|
rs1793328118
|
|
|
NM_005045.4(RELN):c.3755T>C (p.Met1252Thr)
|
|
|
|
NM_005045.4(RELN):c.3772T>G (p.Leu1258Val)
|
|
|
|
NM_005045.4(RELN):c.3785G>A (p.Gly1262Glu)
|
|
|
|
NM_005045.4(RELN):c.3786A>G (p.Gly1262=)
|
rs577453361
|
|
|
NM_005045.4(RELN):c.3803C>A (p.Thr1268Asn)
|
rs2117248784
|
|
|
NM_005045.4(RELN):c.3808T>C (p.Cys1270Arg)
|
rs2117248747
|
|
|
NM_005045.4(RELN):c.3815C>T (p.Ala1272Val)
|
rs375784624
|
|
|
NM_005045.4(RELN):c.3816C>A (p.Ala1272=)
|
rs1355782479
|
|
|
NM_005045.4(RELN):c.3817A>G (p.Thr1273Ala)
|
rs1831475227
|
|
|
NM_005045.4(RELN):c.381T>C (p.Ser127=)
|
|
|
|
NM_005045.4(RELN):c.3828A>G (p.Ala1276=)
|
|
|
|
NM_005045.4(RELN):c.3829A>G (p.Met1277Val)
|
rs555946635
|
|
|
NM_005045.4(RELN):c.3833T>C (p.Ile1278Thr)
|
|
|
|
NM_005045.4(RELN):c.3842A>T (p.Lys1281Ile)
|
|
|
|
NM_005045.4(RELN):c.3845C>T (p.Ser1282Leu)
|
|
|
|
NM_005045.4(RELN):c.3848A>T (p.Asp1283Val)
|
rs2117248656
|
|
|
NM_005045.4(RELN):c.384G>A (p.Val128=)
|
rs1793327868
|
|
|
NM_005045.4(RELN):c.3856C>T (p.Arg1286Ter)
|
|
|
|
NM_005045.4(RELN):c.3865G>A (p.Val1289Ile)
|
rs1190582008
|
|
|
NM_005045.4(RELN):c.3868A>G (p.Thr1290Ala)
|
|
|
|
NM_005045.4(RELN):c.3871C>T (p.Arg1291Ter)
|
rs2117248586
|
|
|
NM_005045.4(RELN):c.3874G>A (p.Asp1292Asn)
|
|
|
|
NM_005045.4(RELN):c.3888A>T (p.Lys1296Asn)
|
rs745587949
|
|
|
NM_005045.4(RELN):c.3895T>C (p.Tyr1299His)
|
|
|
|
NM_005045.4(RELN):c.3896A>G (p.Tyr1299Cys)
|
|
|
|
NM_005045.4(RELN):c.3900G>A (p.Val1300=)
|
|
|
|
NM_005045.4(RELN):c.3905A>T (p.Gln1302Leu)
|
|
|
|
NM_005045.4(RELN):c.3906G>C (p.Gln1302His)
|
rs1554386837
|
|
|
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.3919A>G (p.Ile1307Val)
|
|
|
|
NM_005045.4(RELN):c.3924T>A (p.Gly1308=)
|
rs1584322870
|
|
|
NM_005045.4(RELN):c.3936A>G (p.Gln1312=)
|
|
|
|
NM_005045.4(RELN):c.3946A>C (p.Thr1316Pro)
|
|
|
|
NM_005045.4(RELN):c.3947C>T (p.Thr1316Ile)
|
rs1402063651
|
|
|
NM_005045.4(RELN):c.3955_3957dup (p.Val1319dup)
|
rs1831367827
|
|
|
NM_005045.4(RELN):c.3971C>G (p.Ser1324Cys)
|
|
|
|
NM_005045.4(RELN):c.3973C>T (p.His1325Tyr)
|
|
|
|
NM_005045.4(RELN):c.3987G>A (p.Met1329Ile)
|
|
|
|
NM_005045.4(RELN):c.39A>G (p.Leu13=)
|
|
|
|
NM_005045.4(RELN):c.4002G>A (p.Val1334=)
|
rs2117239802
|
|
|
NM_005045.4(RELN):c.4003A>G (p.Lys1335Glu)
|
|
|
|
NM_005045.4(RELN):c.4005A>G (p.Lys1335=)
|
rs1242460681
|
|
|
NM_005045.4(RELN):c.4008A>C (p.Glu1336Asp)
|
rs2117239786
|
|
|
NM_005045.4(RELN):c.4010G>C (p.Gly1337Ala)
|
rs1289449043
|
|
|
NM_005045.4(RELN):c.4011C>T (p.Gly1337=)
|
|
|
|
NM_005045.4(RELN):c.4013G>A (p.Cys1338Tyr)
|
|
|
|
NM_005045.4(RELN):c.4031G>A (p.Gly1344Asp)
|
rs1831365750
|
|
|
NM_005045.4(RELN):c.4032C>G (p.Gly1344=)
|
rs751196307
|
|
|
NM_005045.4(RELN):c.4032C>T (p.Gly1344=)
|
|
|
|
NM_005045.4(RELN):c.404A>G (p.His135Arg)
|
|
|
|
NM_005045.4(RELN):c.4063A>G (p.Ser1355Gly)
|
rs1831364343
|
|
|
NM_005045.4(RELN):c.4063A>T (p.Ser1355Cys)
|
rs1831364343
|
|
|
NM_005045.4(RELN):c.4088G>A (p.Gly1363Glu)
|
|
|
|
NM_005045.4(RELN):c.4092C>T (p.Asp1364=)
|
|
|
|
NM_005045.4(RELN):c.4097A>G (p.Glu1366Gly)
|
|
|
|
NM_005045.4(RELN):c.40G>T (p.Ala14Ser)
|
rs147551940
|
|
|
NM_005045.4(RELN):c.4105A>G (p.Thr1369Ala)
|
|
|
|
NM_005045.4(RELN):c.410C>T (p.Pro137Leu)
|
|
|
|
NM_005045.4(RELN):c.4110A>C (p.Arg1370Ser)
|
rs1584322632
|
|
|
NM_005045.4(RELN):c.4110A>G (p.Arg1370=)
|
rs1584322632
|
|
|
NM_005045.4(RELN):c.4118T>A (p.Ile1373Asn)
|
rs529801155
|
|
|
NM_005045.4(RELN):c.4140A>C (p.Ala1380=)
|
rs368469945
|
|
|
NM_005045.4(RELN):c.4145+11C>G
|
rs761694952
|
|
|
NM_005045.4(RELN):c.4145+5A>G
|
|
|
|
NM_005045.4(RELN):c.4146-13T>C
|
|
|
|
NM_005045.4(RELN):c.4146-4A>G
|
rs2117208520
|
|
|
NM_005045.4(RELN):c.4146-7C>T
|
|
|
|
NM_005045.4(RELN):c.4146C>G (p.Ser1382Arg)
|
|
|
|
NM_005045.4(RELN):c.4150A>T (p.Thr1384Ser)
|
|
|
|
NM_005045.4(RELN):c.4160G>A (p.Arg1387Gln)
|
rs1259371944
|
|
|
NM_005045.4(RELN):c.4166T>C (p.Ile1389Thr)
|
rs758093276
|
|
|
NM_005045.4(RELN):c.416C>T (p.Thr139Ile)
|
|
|
|
NM_005045.4(RELN):c.4174AGC[3] (p.Ser1394dup)
|
rs1478314996
|
|
|
NM_005045.4(RELN):c.4176C>G (p.Ser1392Arg)
|
rs765007573
|
|
|
NM_005045.4(RELN):c.4190del (p.Asn1397fs)
|
rs2117208388
|
|
|
NM_005045.4(RELN):c.4192G>A (p.Val1398Met)
|
|
|
|
NM_005045.4(RELN):c.4192G>T (p.Val1398Leu)
|
|
|
|
NM_005045.4(RELN):c.4195C>T (p.Pro1399Ser)
|
|
|
|
NM_005045.4(RELN):c.4196C>T (p.Pro1399Leu)
|
|
|
|
NM_005045.4(RELN):c.4214G>T (p.Gly1405Val)
|
rs1562900485
|
|
|
NM_005045.4(RELN):c.4218G>A (p.Val1406=)
|
rs2117208313
|
|
|
NM_005045.4(RELN):c.4222A>C (p.Ile1408Leu)
|
rs1381220339
|
|
|
NM_005045.4(RELN):c.4222A>G (p.Ile1408Val)
|
|
|
|
NM_005045.4(RELN):c.4226C>G (p.Ser1409Cys)
|
|
|
|
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.424A>C (p.Ser142Arg)
|
|
|
|
NM_005045.4(RELN):c.4255C>T (p.His1419Tyr)
|
rs2117208208
|
|
|
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.425G>T (p.Ser142Ile)
|
|
|
|
NM_005045.4(RELN):c.4263C>A (p.Asp1421Glu)
|
rs1235295586
|
|
|
NM_005045.4(RELN):c.4266C>T (p.Cys1422=)
|
|
|
|
NM_005045.4(RELN):c.4269T>G (p.Ile1423Met)
|
rs1830979263
|
|
|
NM_005045.4(RELN):c.4303+20T>A
|
|
|
|
NM_005045.4(RELN):c.4303+5G>A
|
rs1374880951
|
|
|
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.4311A>T (p.Gln1437His)
|
rs770565114
|
|
|
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.4321G>A (p.Val1441Met)
|
rs752744198
|
|
|
NM_005045.4(RELN):c.4327A>C (p.Asn1443His)
|
|
|
|
NM_005045.4(RELN):c.4336A>T (p.Asn1446Tyr)
|
rs1319983959
|
|
|
NM_005045.4(RELN):c.4339C>G (p.His1447Asp)
|
|
|
|
NM_005045.4(RELN):c.4346A>C (p.Glu1449Ala)
|
rs2117205481
|
|
|
NM_005045.4(RELN):c.4347G>A (p.Glu1449=)
|
|
|
|
NM_005045.4(RELN):c.4348A>G (p.Met1450Val)
|
|
|
|
NM_005045.4(RELN):c.4349T>C (p.Met1450Thr)
|
|
|
|
NM_005045.4(RELN):c.4353C>G (p.Phe1451Leu)
|
rs370743731
|
|
|
NM_005045.4(RELN):c.4356T>C (p.Asp1452=)
|
|
|
|
NM_005045.4(RELN):c.4366G>A (p.Gly1456Arg)
|
rs1830946543
|
|
|
NM_005045.4(RELN):c.4368G>A (p.Gly1456=)
|
|
|
|
NM_005045.4(RELN):c.4372C>T (p.Leu1458Phe)
|
|
|
|
NM_005045.4(RELN):c.4374C>T (p.Leu1458=)
|
rs1584308677
|
|
|
NM_005045.4(RELN):c.4383G>A (p.Leu1461=)
|
|
|
|
NM_005045.4(RELN):c.4388A>C (p.Tyr1463Ser)
|
rs1468303240
|
|
|
NM_005045.4(RELN):c.4402G>A (p.Ala1468Thr)
|
rs1451901900
|
|
|
NM_005045.4(RELN):c.4403C>G (p.Ala1468Gly)
|
rs1442056564
|
|
|
NM_005045.4(RELN):c.4415C>G (p.Thr1472Ser)
|
rs1830944848
|
|
|
NM_005045.4(RELN):c.4427C>T (p.Thr1476Ile)
|
|
|
|
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.4435G>A (p.Asp1479Asn)
|
rs781311212
|
|
|
NM_005045.4(RELN):c.4437T>A (p.Asp1479Glu)
|
rs200920818
|
|
|
NM_005045.4(RELN):c.4440C>T (p.Gly1480=)
|
rs758393207
|
|
|
NM_005045.4(RELN):c.4449_4450del (p.Tyr1484fs)
|
rs2117205170
|
|
|
NM_005045.4(RELN):c.445C>T (p.Pro149Ser)
|
rs374263472
|
|
|
NM_005045.4(RELN):c.446C>G (p.Pro149Arg)
|
|
|
|
NM_005045.4(RELN):c.4472G>A (p.Arg1491Lys)
|
rs764417211
|
|
|
NM_005045.4(RELN):c.4477G>A (p.Ala1493Thr)
|
rs1307056370
|
|
|
NM_005045.4(RELN):c.4478C>T (p.Ala1493Val)
|
rs1248208606
|
|
|
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.4489C>T (p.Pro1497Ser)
|
rs2117205011
|
|
|
NM_005045.4(RELN):c.4496A>G (p.Asp1499Gly)
|
|
|
|
NM_005045.4(RELN):c.4507A>G (p.Ile1503Val)
|
rs779797168
|
|
|
NM_005045.4(RELN):c.4507A>T (p.Ile1503Phe)
|
rs779797168
|
|
|
NM_005045.4(RELN):c.4510A>T (p.Arg1504Ter)
|
rs2117204949
|
|
|
NM_005045.4(RELN):c.4511+5C>T
|
|
|
|
NM_005045.4(RELN):c.4512-18A>G
|
rs2117201107
|
|
|
NM_005045.4(RELN):c.4517T>A (p.Val1506Asp)
|
rs1554381609
|
|
|
NM_005045.4(RELN):c.4520A>T (p.Gln1507Leu)
|
|
|
|
NM_005045.4(RELN):c.4534A>G (p.Ile1512Val)
|
|
|
|
NM_005045.4(RELN):c.4541G>A (p.Ser1514Asn)
|
|
|
|
NM_005045.4(RELN):c.4543A>G (p.Lys1515Glu)
|
rs946390770
|
|
|
NM_005045.4(RELN):c.4547C>G (p.Thr1516Ser)
|
|
|
|
NM_005045.4(RELN):c.454A>G (p.Thr152Ala)
|
|
|
|
NM_005045.4(RELN):c.4556T>C (p.Ile1519Thr)
|
|
|
|
NM_005045.4(RELN):c.4560C>G (p.Thr1520=)
|
|
|
|
NM_005045.4(RELN):c.4568A>T (p.Lys1523Ile)
|
rs749573055
|
|
|
NM_005045.4(RELN):c.4576A>G (p.Thr1526Ala)
|
rs1393256777
|
|
|
NM_005045.4(RELN):c.4577C>G (p.Thr1526Ser)
|
rs2117200905
|
|
|
NM_005045.4(RELN):c.4582A>G (p.Asn1528Asp)
|
|
|
|
NM_005045.4(RELN):c.4589-15T>C
|
|
|
|
NM_005045.4(RELN):c.4589-4T>A
|
|
|
|
NM_005045.4(RELN):c.4589-4T>G
|
|
|
|
NM_005045.4(RELN):c.4589-8dup
|
rs751121994
|
|
|
NM_005045.4(RELN):c.459C>T (p.Gly153=)
|
rs766219103
|
|
|
NM_005045.4(RELN):c.4601A>G (p.Gln1534Arg)
|
|
|
|
NM_005045.4(RELN):c.4602G>A (p.Gln1534=)
|
rs2117189494
|
|
|
NM_005045.4(RELN):c.4609A>T (p.Asn1537Tyr)
|
rs753346658
|
|
|
NM_005045.4(RELN):c.4612G>A (p.Asp1538Asn)
|
rs1210883875
|
|
|
NM_005045.4(RELN):c.4613A>G (p.Asp1538Gly)
|
|
|
|
NM_005045.4(RELN):c.4621A>G (p.Ile1541Val)
|
|
|
|
NM_005045.4(RELN):c.4630C>G (p.His1544Asp)
|
|
|
|
NM_005045.4(RELN):c.4630C>T (p.His1544Tyr)
|
rs373010833
|
|
|
NM_005045.4(RELN):c.4639C>T (p.Arg1547Ter)
|
rs2117189408
|
|
|
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.4718C>T (p.Thr1573Met)
|
rs762922371
|
|
|
NM_005045.4(RELN):c.4726C>T (p.Arg1576Ter)
|
|
|
|
NM_005045.4(RELN):c.473+13del
|
|
|
|
NM_005045.4(RELN):c.473+1G>A
|
|
|
|
NM_005045.4(RELN):c.473+6T>C
|
rs770023998
|
|
|
NM_005045.4(RELN):c.473+8C>T
|
rs2116408520
|
|
|
NM_005045.4(RELN):c.4737A>T (p.Gln1579His)
|
rs768948021
|
|
|
NM_005045.4(RELN):c.4739C>G (p.Pro1580Arg)
|
rs1488556290
|
|
|
NM_005045.4(RELN):c.474-12A>G
|
|
|
|
NM_005045.4(RELN):c.474-3C>T
|
rs2116212304
|
|
|
NM_005045.4(RELN):c.4743A>G (p.Gln1581=)
|
|
|
|
NM_005045.4(RELN):c.4745A>G (p.His1582Arg)
|
rs932665576
|
|
|
NM_005045.4(RELN):c.4746T>G (p.His1582Gln)
|
|
|
|
NM_005045.4(RELN):c.4747+12C>G
|
|
|
|
NM_005045.4(RELN):c.4747+18C>T
|
|
|
|
NM_005045.4(RELN):c.4747+5G>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.4751A>G (p.Lys1584Arg)
|
|
|
|
NM_005045.4(RELN):c.4760C>T (p.Ala1587Val)
|
rs2117188595
|
|
|
NM_005045.4(RELN):c.4775A>G (p.Asp1592Gly)
|
rs961895163
|
|
|
NM_005045.4(RELN):c.4777G>A (p.Asp1593Asn)
|
|
|
|
NM_005045.4(RELN):c.4793T>A (p.Met1598Lys)
|
|
|
|
NM_005045.4(RELN):c.479C>T (p.Thr160Ile)
|
rs2116212281
|
|
|
NM_005045.4(RELN):c.4808A>C (p.Gln1603Pro)
|
rs552290322
|
|
|
NM_005045.4(RELN):c.480A>G (p.Thr160=)
|
rs2116212274
|
|
|
NM_005045.4(RELN):c.482C>A (p.Ala161Glu)
|
rs2116212265
|
|
|
NM_005045.4(RELN):c.4832A>G (p.Asp1611Gly)
|
|
|
|
NM_005045.4(RELN):c.4833T>C (p.Asp1611=)
|
|
|
|
NM_005045.4(RELN):c.4838C>G (p.Ser1613Cys)
|
|
|
|
NM_005045.4(RELN):c.4838C>T (p.Ser1613Phe)
|
rs201945386
|
|
|
NM_005045.4(RELN):c.4842A>G (p.Ile1614Met)
|
|
|
|
NM_005045.4(RELN):c.4846T>C (p.Leu1616=)
|
|
|
|
NM_005045.4(RELN):c.4848G>A (p.Leu1616=)
|
rs200733882
|
|
|
NM_005045.4(RELN):c.4854C>T (p.Ala1618=)
|
|
|
|
NM_005045.4(RELN):c.4855A>G (p.Asn1619Asp)
|
rs1830750187
|
|
|
NM_005045.4(RELN):c.4868T>C (p.Ile1623Thr)
|
|
|
|
NM_005045.4(RELN):c.4871A>G (p.Gln1624Arg)
|
|
|
|
NM_005045.4(RELN):c.4880A>G (p.Gln1627Arg)
|
rs1273427587
|
|
|
NM_005045.4(RELN):c.4881A>C (p.Gln1627His)
|
|
|
|
NM_005045.4(RELN):c.4882G>C (p.Val1628Leu)
|
rs1436133395
|
|
|
NM_005045.4(RELN):c.4888A>G (p.Ile1630Val)
|
|
|
|
NM_005045.4(RELN):c.488A>G (p.His163Arg)
|
rs2116212240
|
|
|
NM_005045.4(RELN):c.4891G>A (p.Asp1631Asn)
|
|
|
|
NM_005045.4(RELN):c.4904T>C (p.Met1635Thr)
|
|
|
|
NM_005045.4(RELN):c.4904_4905insA (p.Met1635fs)
|
rs2117188195
|
|
|
NM_005045.4(RELN):c.4905G>A (p.Met1635Ile)
|
rs1423049871
|
|
|
NM_005045.4(RELN):c.4912G>T (p.Ala1638Ser)
|
|
|
|
NM_005045.4(RELN):c.4913C>A (p.Ala1638Asp)
|
rs1217207298
|
|
|
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.4934T>A (p.Ile1645Lys)
|
rs537366000
|
|
|
NM_005045.4(RELN):c.4936+1G>T
|
|
|
|
NM_005045.4(RELN):c.4936+5A>G
|
rs1554380236
|
|
|
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.4937-4del
|
rs35268159
|
|
|
NM_005045.4(RELN):c.4937-4dup
|
rs35268159
|
|
|
NM_005045.4(RELN):c.4937-5_4937-4dup
|
rs35268159
|
|
|
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.4943C>T (p.Pro1648Leu)
|
rs749050390
|
|
|
NM_005045.4(RELN):c.4949A>C (p.Tyr1650Ser)
|
|
|
|
NM_005045.4(RELN):c.4955A>C (p.Glu1652Ala)
|
|
|
|
NM_005045.4(RELN):c.4969C>T (p.His1657Tyr)
|
|
|
|
NM_005045.4(RELN):c.4972G>A (p.Val1658Met)
|
|
|
|
NM_005045.4(RELN):c.497A>G (p.Gln166Arg)
|
rs2116212190
|
|
|
NM_005045.4(RELN):c.498G>A (p.Gln166=)
|
|
|
|
NM_005045.4(RELN):c.4990T>C (p.Leu1664=)
|
rs1830730714
|
|
|
NM_005045.4(RELN):c.4996T>C (p.Phe1666Leu)
|
|
|
|
NM_005045.4(RELN):c.5006G>A (p.Ser1669Asn)
|
|
|
|
NM_005045.4(RELN):c.5006G>C (p.Ser1669Thr)
|
|
|
|
NM_005045.4(RELN):c.5009_5020del (p.Met1670_Ser1673del)
|
|
|
|
NM_005045.4(RELN):c.500T>A (p.Val167Asp)
|
|
|
|
NM_005045.4(RELN):c.5011G>C (p.Gly1671Arg)
|
rs939943472
|
|
|
NM_005045.4(RELN):c.5030G>A (p.Ser1677Asn)
|
rs1830729426
|
|
|
NM_005045.4(RELN):c.5034C>T (p.Asn1678=)
|
|
|
|
NM_005045.4(RELN):c.5043T>C (p.Ser1681=)
|
rs1830728823
|
|
|
NM_005045.4(RELN):c.5044G>A (p.Val1682Ile)
|
rs727504125
|
|
|
NM_005045.4(RELN):c.5069A>G (p.Asn1690Ser)
|
|
|
|
NM_005045.4(RELN):c.5069A>T (p.Asn1690Ile)
|
rs1830728121
|
|
|
NM_005045.4(RELN):c.5077G>A (p.Asp1693Asn)
|
rs1487716758
|
|
|
NM_005045.4(RELN):c.5094C>T (p.Thr1698=)
|
|
|
|
NM_005045.4(RELN):c.5102G>A (p.Cys1701Tyr)
|
rs746597375
|
|
|
NM_005045.4(RELN):c.5115C>G (p.Thr1705=)
|
rs139945641
|
|
|
NM_005045.4(RELN):c.5115del (p.Ile1706fs)
|
|
|
|
NM_005045.4(RELN):c.5128C>A (p.His1710Asn)
|
rs1830725754
|
|
|
NM_005045.4(RELN):c.5151C>T (p.Tyr1717=)
|
|
|
|
NM_005045.4(RELN):c.5168A>T (p.Gln1723Leu)
|
|
|
|
NM_005045.4(RELN):c.5197C>T (p.Pro1733Ser)
|
|
|
|
NM_005045.4(RELN):c.5198C>T (p.Pro1733Leu)
|
|
|
|
NM_005045.4(RELN):c.5199A>G (p.Pro1733=)
|
|
|
|
NM_005045.4(RELN):c.5204C>T (p.Ser1735Phe)
|
|
|
|
NM_005045.4(RELN):c.5207C>T (p.Thr1736Ile)
|
|
|
|
NM_005045.4(RELN):c.5210+16T>C
|
|
|
|
NM_005045.4(RELN):c.5210+6A>T
|
rs2117185798
|
|
|
NM_005045.4(RELN):c.5210+9T>C
|
|
|
|
NM_005045.4(RELN):c.5210T>A (p.Ile1737Asn)
|
|
|
|
NM_005045.4(RELN):c.5210T>C (p.Ile1737Thr)
|
rs202116849
|
|
|
NM_005045.4(RELN):c.5211-10_5211-7del
|
rs34125550
|
|
|
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.5211-7T>G
|
rs760447914
|
|
|
NM_005045.4(RELN):c.5211-7del
|
rs34125550
|
|
|
NM_005045.4(RELN):c.5211-8T>A
|
rs763806459
|
|
|
NM_005045.4(RELN):c.5211-8T>G
|
|
|
|
NM_005045.4(RELN):c.521C>A (p.Ala174Asp)
|
rs1791748632
|
|
|
NM_005045.4(RELN):c.5224C>A (p.Arg1742=)
|
rs771039313
|
|
|
NM_005045.4(RELN):c.5224C>T (p.Arg1742Trp)
|
|
|
|
NM_005045.4(RELN):c.523C>G (p.Gln175Glu)
|
|
|
|
NM_005045.4(RELN):c.5247C>A (p.Asn1749Lys)
|
|
|
|
NM_005045.4(RELN):c.5248_5249delinsCT (p.Tyr1750Leu)
|
rs2117178648
|
|
|
NM_005045.4(RELN):c.524A>G (p.Gln175Arg)
|
|
|
|
NM_005045.4(RELN):c.5255T>C (p.Val1752Ala)
|
rs1165004470
|
|
|
NM_005045.4(RELN):c.5258G>A (p.Gly1753Glu)
|
rs1554379129
|
|
|
NM_005045.4(RELN):c.5260G>A (p.Ala1754Thr)
|
rs1830650545
|
|
|
NM_005045.4(RELN):c.5274G>A (p.Ala1758=)
|
rs139102992
|
|
|
NM_005045.4(RELN):c.527A>C (p.Gln176Pro)
|
|
|
|
NM_005045.4(RELN):c.5287G>T (p.Val1763Leu)
|
|
|
|
NM_005045.4(RELN):c.528G>A (p.Gln176=)
|
|
|
|
NM_005045.4(RELN):c.528G>T (p.Gln176His)
|
|
|
|
NM_005045.4(RELN):c.5295C>T (p.Ala1765=)
|
|
|
|
NM_005045.4(RELN):c.52_63dup (p.Gly18_Leu21dup)
|
rs758519950
|
|
|
NM_005045.4(RELN):c.5303G>A (p.Cys1768Tyr)
|
|
|
|
NM_005045.4(RELN):c.5305C>T (p.Pro1769Ser)
|
|
|
|
NM_005045.4(RELN):c.531G>C (p.Leu177Phe)
|
rs746290551
|
|
|
NM_005045.4(RELN):c.5323C>T (p.Arg1775Ter)
|
|
|
|
NM_005045.4(RELN):c.5329A>G (p.Ile1777Val)
|
|
|
|
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.5380T>C (p.Cys1794Arg)
|
|
|
|
NM_005045.4(RELN):c.5389G>T (p.Val1797Phe)
|
|
|
|
NM_005045.4(RELN):c.539A>G (p.Gln180Arg)
|
|
|
|
NM_005045.4(RELN):c.53G>T (p.Gly18Val)
|
|
|
|
NM_005045.4(RELN):c.5408T>C (p.Ile1803Thr)
|
rs1584296775
|
|
|
NM_005045.4(RELN):c.5418_5420del (p.Asp1807del)
|
rs1830643936
|
|
|
NM_005045.4(RELN):c.5426A>G (p.Asn1809Ser)
|
|
|
|
NM_005045.4(RELN):c.544+16G>A
|
|
|
|
NM_005045.4(RELN):c.544+5G>A
|
|
|
|
NM_005045.4(RELN):c.545-14C>T
|
|
|
|
NM_005045.4(RELN):c.545-16T>C
|
rs2116085030
|
|
|
NM_005045.4(RELN):c.5455del (p.Glu1819fs)
|
|
|
|
NM_005045.4(RELN):c.5460G>T (p.Val1820=)
|
|
|
|
NM_005045.4(RELN):c.5464G>A (p.Gly1822Ser)
|
|
|
|
NM_005045.4(RELN):c.5465G>A (p.Gly1822Asp)
|
rs141734678
|
|
|
NM_005045.4(RELN):c.5465G>C (p.Gly1822Ala)
|
rs141734678
|
|
|
NM_005045.4(RELN):c.5466T>G (p.Gly1822=)
|
|
|
|
NM_005045.4(RELN):c.5468C>A (p.Ala1823Glu)
|
rs1244373166
|
|
|
NM_005045.4(RELN):c.5474G>C (p.Arg1825Thr)
|
rs368478306
|
|
|
NM_005045.4(RELN):c.5475G>A (p.Arg1825=)
|
|
|
|
NM_005045.4(RELN):c.5476G>A (p.Gly1826Arg)
|
rs1830642360
|
|
|
NM_005045.4(RELN):c.5477G>A (p.Gly1826Glu)
|
|
|
|
NM_005045.4(RELN):c.5487T>C (p.Asn1829=)
|
|
|
|
NM_005045.4(RELN):c.5489del (p.Gly1830fs)
|
|
|
|
NM_005045.4(RELN):c.5499C>G (p.Ile1833Met)
|
|
|
|
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.5513C>G (p.Ser1838Cys)
|
|
|
|
NM_005045.4(RELN):c.5526A>G (p.Lys1842=)
|
|
|
|
NM_005045.4(RELN):c.5528G>A (p.Gly1843Glu)
|
rs114313194
|
|
|
NM_005045.4(RELN):c.5528G>T (p.Gly1843Val)
|
|
|
|
NM_005045.4(RELN):c.5529+10A>C
|
|
|
|
NM_005045.4(RELN):c.5529+18T>C
|
|
|
|
NM_005045.4(RELN):c.5529+6del
|
|
|
|
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.553G>T (p.Asp185Tyr)
|
rs1480297004
|
|
|
NM_005045.4(RELN):c.5540G>A (p.Arg1847Lys)
|
|
|
|
NM_005045.4(RELN):c.5541G>T (p.Arg1847Ser)
|
|
|
|
NM_005045.4(RELN):c.5545C>T (p.Leu1849Phe)
|
|
|
|
NM_005045.4(RELN):c.5549T>C (p.Ile1850Thr)
|
rs1830563554
|
|
|
NM_005045.4(RELN):c.5553A>C (p.Ser1851=)
|
|
|
|
NM_005045.4(RELN):c.5558A>T (p.Asp1853Val)
|
|
|
|
NM_005045.4(RELN):c.5576C>T (p.Thr1859Ile)
|
|
|
|
NM_005045.4(RELN):c.5578A>T (p.Met1860Leu)
|
rs771668501
|
|
|
NM_005045.4(RELN):c.5579T>C (p.Met1860Thr)
|
|
|
|
NM_005045.4(RELN):c.5584G>A (p.Val1862Ile)
|
|
|
|
NM_005045.4(RELN):c.5594C>T (p.Ser1865Leu)
|
|
|
|
NM_005045.4(RELN):c.55G>T (p.Ala19Ser)
|
|
|
|
NM_005045.4(RELN):c.5600G>C (p.Arg1867Thr)
|
rs1830562342
|
|
|
NM_005045.4(RELN):c.5606T>G (p.Ile1869Arg)
|
|
|
|
NM_005045.4(RELN):c.5613A>C (p.Lys1871Asn)
|
|
|
|
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.5615-2A>G
|
rs2117168257
|
|
|
NM_005045.4(RELN):c.5615-5C>T
|
rs1185133754
|
|
|
NM_005045.4(RELN):c.5629T>A (p.Ser1877Thr)
|
|
|
|
NM_005045.4(RELN):c.5633A>G (p.His1878Arg)
|
|
|
|
NM_005045.4(RELN):c.5636C>T (p.Ser1879Phe)
|
|
|
|
NM_005045.4(RELN):c.563T>C (p.Val188Ala)
|
|
|
|
NM_005045.4(RELN):c.5652C>A (p.Phe1884Leu)
|
|
|
|
NM_005045.4(RELN):c.5655C>T (p.Ser1885=)
|
rs558373106
|
|
|
NM_005045.4(RELN):c.5662G>A (p.Gly1888Arg)
|
rs1830541169
|
|
|
NM_005045.4(RELN):c.566A>G (p.His189Arg)
|
rs2116084828
|
|
|
NM_005045.4(RELN):c.5672C>G (p.Thr1891Ser)
|
rs750831468
|
|
|
NM_005045.4(RELN):c.5677C>T (p.His1893Tyr)
|
rs1468373493
|
|
|
NM_005045.4(RELN):c.5682G>A (p.Leu1894=)
|
rs2117168013
|
|
|
NM_005045.4(RELN):c.5684T>C (p.Met1895Thr)
|
rs1584292884
|
|
|
NM_005045.4(RELN):c.5711C>A (p.Thr1904Lys)
|
rs114190729
|
|
|
NM_005045.4(RELN):c.5712G>A (p.Thr1904=)
|
rs1293070633
|
|
|
NM_005045.4(RELN):c.5718A>G (p.Ile1906Met)
|
rs1830539198
|
|
|
NM_005045.4(RELN):c.5729A>G (p.Asn1910Ser)
|
|
|
|
NM_005045.4(RELN):c.572A>T (p.His191Leu)
|
rs918350971
|
|
|
NM_005045.4(RELN):c.5731G>A (p.Val1911Ile)
|
rs1830538855
|
|
|
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.5746A>G (p.Thr1916Ala)
|
rs768731886
|
|
|
NM_005045.4(RELN):c.5753A>G (p.Gln1918Arg)
|
rs1830538254
|
|
|
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.5774G>C (p.Arg1925Thr)
|
rs779201520
|
|
|
NM_005045.4(RELN):c.578-12_578-11insC
|
|
|
|
NM_005045.4(RELN):c.578-17C>T
|
|
|
|
NM_005045.4(RELN):c.578-3T>G
|
|
|
|
NM_005045.4(RELN):c.578-3del
|
rs1047136329
|
|
|
NM_005045.4(RELN):c.5782C>A (p.Gln1928Lys)
|
|
|
|
NM_005045.4(RELN):c.5784A>T (p.Gln1928His)
|
|
|
|
NM_005045.4(RELN):c.5786C>G (p.Pro1929Arg)
|
|
|
|
NM_005045.4(RELN):c.5788T>C (p.Tyr1930His)
|
rs956716779
|
|
|
NM_005045.4(RELN):c.5791A>G (p.Asn1931Asp)
|
rs369993428
|
|
|
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.5798-10A>G
|
|
|
|
NM_005045.4(RELN):c.5798G>T (p.Gly1933Val)
|
rs1830467765
|
|
|
NM_005045.4(RELN):c.5802G>C (p.Lys1934Asn)
|
|
|
|
NM_005045.4(RELN):c.5804A>C (p.Lys1935Thr)
|
rs1830467705
|
|
|
NM_005045.4(RELN):c.5826T>C (p.Asp1942=)
|
rs2117160092
|
|
|
NM_005045.4(RELN):c.5827G>C (p.Asp1943His)
|
|
|
|
NM_005045.4(RELN):c.582A>G (p.Glu194=)
|
|
|
|
NM_005045.4(RELN):c.5838C>G (p.Ile1946Met)
|
|
|
|
NM_005045.4(RELN):c.5839G>T (p.Asp1947Tyr)
|
|
|
|
NM_005045.4(RELN):c.5856C>T (p.Asn1952=)
|
rs375228702
|
|
|
NM_005045.4(RELN):c.5866A>T (p.Met1956Leu)
|
rs1410345577
|
|
|
NM_005045.4(RELN):c.5876A>G (p.Asp1959Gly)
|
rs1830465679
|
|
|
NM_005045.4(RELN):c.5879C>A (p.Thr1960Lys)
|
|
|
|
NM_005045.4(RELN):c.587A>G (p.His196Arg)
|
|
|
|
NM_005045.4(RELN):c.5886T>A (p.Asp1962Glu)
|
rs2117159839
|
|
|
NM_005045.4(RELN):c.5901A>G (p.Glu1967=)
|
rs943982931
|
|
|
NM_005045.4(RELN):c.5903A>T (p.Asp1968Val)
|
rs1284690672
|
|
|
NM_005045.4(RELN):c.5907T>C (p.Asn1969=)
|
|
|
|
NM_005045.4(RELN):c.5909G>T (p.Trp1970Leu)
|
|
|
|
NM_005045.4(RELN):c.5918A>C (p.Tyr1973Ser)
|
|
|
|
NM_005045.4(RELN):c.5920C>G (p.Pro1974Ala)
|
|
|
|
NM_005045.4(RELN):c.5924G>A (p.Gly1975Asp)
|
|
|
|
NM_005045.4(RELN):c.5926G>A (p.Gly1976Ser)
|
|
|
|
NM_005045.4(RELN):c.592G>C (p.Asp198His)
|
|
|
|
NM_005045.4(RELN):c.5937T>A (p.Gly1979=)
|
|
|
|
NM_005045.4(RELN):c.5947C>G (p.Pro1983Ala)
|
rs2117159651
|
|
|
NM_005045.4(RELN):c.5953T>G (p.Ser1985Ala)
|
rs2117159627
|
|
|
NM_005045.4(RELN):c.5965G>T (p.Ala1989Ser)
|
rs1233107226
|
|
|
NM_005045.4(RELN):c.5969+18A>G
|
|
|
|
NM_005045.4(RELN):c.5969+3A>G
|
rs1290900424
|
|
|
NM_005045.4(RELN):c.596G>A (p.Ser199Asn)
|
|
|
|
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.5987T>C (p.Met1996Thr)
|
|
|
|
NM_005045.4(RELN):c.5995G>A (p.Val1999Ile)
|
rs1830457350
|
|
|
NM_005045.4(RELN):c.5A>G (p.Glu2Gly)
|
|
|
|
NM_005045.4(RELN):c.6015G>A (p.Glu2005=)
|
rs1287656164
|
|
|
NM_005045.4(RELN):c.6017A>T (p.His2006Leu)
|
|
|
|
NM_005045.4(RELN):c.601A>G (p.Ile201Val)
|
|
|
|
NM_005045.4(RELN):c.6020C>A (p.Ser2007Tyr)
|
rs1830456753
|
|
|
NM_005045.4(RELN):c.602T>C (p.Ile201Thr)
|
|
|
|
NM_005045.4(RELN):c.6042T>C (p.Asn2014=)
|
|
|
|
NM_005045.4(RELN):c.6048T>G (p.Asn2016Lys)
|
|
|
|
NM_005045.4(RELN):c.6068_6072+20del
|
|
|
|
NM_005045.4(RELN):c.6072+9C>G
|
|
|
|
NM_005045.4(RELN):c.6073-14del
|
|
|
|
NM_005045.4(RELN):c.6073-19T>G
|
|
|
|
NM_005045.4(RELN):c.6077A>G (p.Asn2026Ser)
|
rs1830405923
|
|
|
NM_005045.4(RELN):c.6081T>C (p.Val2027=)
|
rs2117153642
|
|
|
NM_005045.4(RELN):c.6083G>A (p.Gly2028Asp)
|
rs1584287058
|
|
|
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.6127T>C (p.Phe2043Leu)
|
rs2117153454
|
|
|
NM_005045.4(RELN):c.6134G>C (p.Arg2045Thr)
|
|
|
|
NM_005045.4(RELN):c.6142G>A (p.Gly2048Arg)
|
rs1359142697
|
|
|
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.6148A>G (p.Thr2050Ala)
|
rs2117153371
|
|
|
NM_005045.4(RELN):c.6156C>T (p.His2052=)
|
rs2117153360
|
|
|
NM_005045.4(RELN):c.6166C>A (p.Pro2056Thr)
|
|
|
|
NM_005045.4(RELN):c.6169C>T (p.Leu2057Phe)
|
|
|
|
NM_005045.4(RELN):c.6173G>A (p.Cys2058Tyr)
|
|
|
|
NM_005045.4(RELN):c.6179A>G (p.His2060Arg)
|
rs1830402483
|
|
|
NM_005045.4(RELN):c.6180C>T (p.His2060=)
|
rs753051747
|
|
|
NM_005045.4(RELN):c.6185G>A (p.Ser2062Asn)
|
|
|
|
NM_005045.4(RELN):c.6190C>G (p.His2064Asp)
|
rs767258528
|
|
|
NM_005045.4(RELN):c.61C>T (p.Leu21=)
|
rs1797172669
|
|
|
NM_005045.4(RELN):c.6202_6203del (p.Leu2068fs)
|
rs1830401647
|
|
|
NM_005045.4(RELN):c.6225C>T (p.Pro2075=)
|
|
|
|
NM_005045.4(RELN):c.6233C>T (p.Thr2078Ile)
|
|
|
|
NM_005045.4(RELN):c.6244G>A (p.Gly2082Arg)
|
|
|
|
NM_005045.4(RELN):c.6245G>T (p.Gly2082Val)
|
rs2117153080
|
|
|
NM_005045.4(RELN):c.6254A>C (p.Gln2085Pro)
|
|
|
|
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.6271G>T (p.Val2091Phe)
|
|
|
|
NM_005045.4(RELN):c.6274G>C (p.Val2092Leu)
|
rs752081680
|
|
|
NM_005045.4(RELN):c.6276G>A (p.Val2092=)
|
rs2117152985
|
|
|
NM_005045.4(RELN):c.6279C>A (p.His2093Gln)
|
rs1830399411
|
|
|
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.6296T>C (p.Leu2099Pro)
|
|
|
|
NM_005045.4(RELN):c.62T>C (p.Leu21Pro)
|
|
|
|
NM_005045.4(RELN):c.6301G>A (p.Gly2101Arg)
|
|
|
|
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.6314del (p.Phe2105fs)
|
rs1830269249
|
|
|
NM_005045.4(RELN):c.6338_6342dup (p.Gly2115fs)
|
|
|
|
NM_005045.4(RELN):c.6352C>G (p.Pro2118Ala)
|
rs2117140020
|
|
|
NM_005045.4(RELN):c.6356T>C (p.Val2119Ala)
|
|
|
|
NM_005045.4(RELN):c.6366C>T (p.Ala2122=)
|
rs2117139992
|
|
|
NM_005045.4(RELN):c.6367A>G (p.Ile2123Val)
|
|
|
|
NM_005045.4(RELN):c.6368T>C (p.Ile2123Thr)
|
rs2117139982
|
|
|
NM_005045.4(RELN):c.6385G>A (p.Gly2129Ser)
|
rs1228682428
|
|
|
NM_005045.4(RELN):c.6386G>A (p.Gly2129Asp)
|
|
|
|
NM_005045.4(RELN):c.6393G>A (p.Gln2131=)
|
|
|
|
NM_005045.4(RELN):c.6397GAG[1] (p.Glu2134del)
|
rs1420723549
|
|
|
NM_005045.4(RELN):c.641T>C (p.Leu214Ser)
|
rs2116064367
|
|
|
NM_005045.4(RELN):c.6420G>A (p.Gly2140=)
|
rs1830265807
|
|
|
NM_005045.4(RELN):c.6425G>A (p.Cys2142Tyr)
|
|
|
|
NM_005045.4(RELN):c.6429C>T (p.Ile2143=)
|
rs1554374836
|
|
|
NM_005045.4(RELN):c.642A>C (p.Leu214Phe)
|
|
|
|
NM_005045.4(RELN):c.6431A>T (p.Asn2144Ile)
|
rs776658515
|
|
|
NM_005045.4(RELN):c.6445A>G (p.Ile2149Val)
|
rs2117139774
|
|
|
NM_005045.4(RELN):c.6447A>T (p.Ile2149=)
|
rs2117139766
|
|
|
NM_005045.4(RELN):c.6450T>C (p.Cys2150=)
|
|
|
|
NM_005045.4(RELN):c.6454C>T (p.Pro2152Ser)
|
rs1830265054
|
|
|
NM_005045.4(RELN):c.6459C>T (p.Gly2153=)
|
rs1221972784
|
|
|
NM_005045.4(RELN):c.6474del (p.Cys2159fs)
|
rs2117139699
|
|
|
NM_005045.4(RELN):c.6506T>C (p.Leu2169Pro)
|
rs1830259342
|
|
|
NM_005045.4(RELN):c.6523+11C>G
|
rs556879542
|
|
|
NM_005045.4(RELN):c.6526C>T (p.Gln2176Ter)
|
|
|
|
NM_005045.4(RELN):c.6528G>T (p.Gln2176His)
|
rs1830203883
|
|
|
NM_005045.4(RELN):c.652A>G (p.Ile218Val)
|
|
|
|
NM_005045.4(RELN):c.653T>C (p.Ile218Thr)
|
|
|
|
NM_005045.4(RELN):c.6541A>C (p.Arg2181=)
|
|
|
|
NM_005045.4(RELN):c.654A>G (p.Ile218Met)
|
|
|
|
NM_005045.4(RELN):c.6552A>C (p.Leu2184Phe)
|
|
|
|
NM_005045.4(RELN):c.6554T>A (p.Met2185Lys)
|
rs2117134647
|
|
|
NM_005045.4(RELN):c.6558T>G (p.Ser2186Arg)
|
rs2117134632
|
|
|
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.6563G>C (p.Gly2188Ala)
|
|
|
|
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.657-3C>T
|
|
|
|
NM_005045.4(RELN):c.6574C>T (p.Arg2192Ter)
|
|
|
|
NM_005045.4(RELN):c.6575G>A (p.Arg2192Gln)
|
|
|
|
NM_005045.4(RELN):c.6575G>C (p.Arg2192Pro)
|
rs1309424440
|
|
|
NM_005045.4(RELN):c.6576A>T (p.Arg2192=)
|
rs1228407959
|
|
|
NM_005045.4(RELN):c.6580T>C (p.Cys2194Arg)
|
|
|
|
NM_005045.4(RELN):c.65G>A (p.Arg22Lys)
|
rs139532757
|
|
|
NM_005045.4(RELN):c.6603C>A (p.Asn2201Lys)
|
rs1830202355
|
|
|
NM_005045.4(RELN):c.6606C>T (p.Asn2202=)
|
|
|
|
NM_005045.4(RELN):c.6607C>T (p.Leu2203Phe)
|
rs1296074586
|
|
|
NM_005045.4(RELN):c.6609C>T (p.Leu2203=)
|
|
|
|
NM_005045.4(RELN):c.6616A>G (p.Asn2206Asp)
|
rs1200171328
|
|
|
NM_005045.4(RELN):c.6617A>G (p.Asn2206Ser)
|
rs1830201721
|
|
|
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.663A>T (p.Glu221Asp)
|
rs1355761301
|
|
|
NM_005045.4(RELN):c.6642G>A (p.Met2214Ile)
|
|
|
|
NM_005045.4(RELN):c.6644C>T (p.Thr2215Ile)
|
rs2117134357
|
|
|
NM_005045.4(RELN):c.6651C>T (p.Asp2217=)
|
|
|
|
NM_005045.4(RELN):c.665G>A (p.Cys222Tyr)
|
|
|
|
NM_005045.4(RELN):c.6671+18C>A
|
rs2117134234
|
|
|
NM_005045.4(RELN):c.6671+20_6671+21del
|
rs2117134222
|
|
|
NM_005045.4(RELN):c.6671+4A>T
|
rs1830200491
|
|
|
NM_005045.4(RELN):c.6672-14T>C
|
rs2117129927
|
|
|
NM_005045.4(RELN):c.6672-16C>A
|
rs79610318
|
|
|
NM_005045.4(RELN):c.668A>G (p.Asn223Ser)
|
|
|
|
NM_005045.4(RELN):c.669C>G (p.Asn223Lys)
|
rs773006128
|
|
|
NM_005045.4(RELN):c.6712G>A (p.Val2238Ile)
|
|
|
|
NM_005045.4(RELN):c.6721C>T (p.Pro2241Ser)
|
rs1830152580
|
|
|
NM_005045.4(RELN):c.6722C>T (p.Pro2241Leu)
|
rs1830152521
|
|
|
NM_005045.4(RELN):c.6723C>T (p.Pro2241=)
|
rs2117129751
|
|
|
NM_005045.4(RELN):c.6727A>G (p.Ser2243Gly)
|
|
|
|
NM_005045.4(RELN):c.6735C>G (p.Pro2245=)
|
rs1158442529
|
|
|
NM_005045.4(RELN):c.6736G>T (p.Val2246Leu)
|
|
|
|
NM_005045.4(RELN):c.6747G>A (p.Gln2249=)
|
|
|
|
NM_005045.4(RELN):c.6747G>T (p.Gln2249His)
|
rs1197417084
|
|
|
NM_005045.4(RELN):c.6752C>G (p.Ser2251Cys)
|
rs2117129658
|
|
|
NM_005045.4(RELN):c.6756C>A (p.Leu2252=)
|
|
|
|
NM_005045.4(RELN):c.6756C>T (p.Leu2252=)
|
rs773766190
|
|
|
NM_005045.4(RELN):c.6759C>A (p.Asn2253Lys)
|
rs548135273
|
|
|
NM_005045.4(RELN):c.675T>G (p.Cys225Trp)
|
|
|
|
NM_005045.4(RELN):c.675_676del (p.Cys225_Glu226delinsTer)
|
|
|
|
NM_005045.4(RELN):c.6760G>A (p.Gly2254Ser)
|
|
|
|
NM_005045.4(RELN):c.6760G>T (p.Gly2254Cys)
|
|
|
|
NM_005045.4(RELN):c.6766C>T (p.Leu2256Phe)
|
|
|
|
NM_005045.4(RELN):c.6767T>C (p.Leu2256Pro)
|
|
|
|
NM_005045.4(RELN):c.6769T>C (p.Ser2257Pro)
|
|
|
|
NM_005045.4(RELN):c.6787G>T (p.Glu2263Ter)
|
|
|
|
NM_005045.4(RELN):c.678G>A (p.Glu226=)
|
rs1790261623
|
|
|
NM_005045.4(RELN):c.67G>A (p.Ala23Thr)
|
|
|
|
NM_005045.4(RELN):c.6814G>A (p.Val2272Met)
|
rs2117129475
|
|
|
NM_005045.4(RELN):c.6814G>C (p.Val2272Leu)
|
|
|
|
NM_005045.4(RELN):c.6818G>A (p.Gly2273Asp)
|
rs1830149876
|
|
|
NM_005045.4(RELN):c.6819C>A (p.Gly2273=)
|
|
|
|
NM_005045.4(RELN):c.6826A>G (p.Ile2276Val)
|
|
|
|
NM_005045.4(RELN):c.6839T>A (p.Ile2280Lys)
|
rs1584276518
|
|
|
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.6850G>A (p.Ala2284Thr)
|
|
|
|
NM_005045.4(RELN):c.6854G>A (p.Arg2285His)
|
rs116394157
|
|
|
NM_005045.4(RELN):c.6855T>C (p.Arg2285=)
|
rs2117129357
|
|
|
NM_005045.4(RELN):c.6871C>T (p.Leu2291Phe)
|
rs1830148402
|
|
|
NM_005045.4(RELN):c.6875G>T (p.Arg2292Leu)
|
|
|
|
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.6908A>G (p.Tyr2303Cys)
|
|
|
|
NM_005045.4(RELN):c.690G>C (p.Gln230His)
|
rs1302068842
|
|
|
NM_005045.4(RELN):c.6912C>T (p.Ser2304=)
|
rs2117129177
|
|
|
NM_005045.4(RELN):c.6927T>G (p.Asp2309Glu)
|
rs779047538
|
|
|
NM_005045.4(RELN):c.6929A>G (p.Gln2310Arg)
|
rs2117129132
|
|
|
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>G
|
|
|
|
NM_005045.4(RELN):c.6931-8C>T
|
rs2117127131
|
|
|
NM_005045.4(RELN):c.6933T>C (p.Ile2311=)
|
|
|
|
NM_005045.4(RELN):c.6962C>A (p.Thr2321Lys)
|
|
|
|
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.6977A>G (p.Asp2326Gly)
|
rs1830124301
|
|
|
NM_005045.4(RELN):c.6989T>C (p.Leu2330Pro)
|
rs2117126990
|
|
|
NM_005045.4(RELN):c.6999G>A (p.Arg2333=)
|
|
|
|
NM_005045.4(RELN):c.7012C>T (p.His2338Tyr)
|
rs2117126938
|
|
|
NM_005045.4(RELN):c.7013A>T (p.His2338Leu)
|
|
|
|
NM_005045.4(RELN):c.7015C>T (p.Pro2339Ser)
|
|
|
|
NM_005045.4(RELN):c.7016C>A (p.Pro2339Gln)
|
|
|
|
NM_005045.4(RELN):c.7020A>T (p.Gly2340=)
|
rs776285507
|
|
|
NM_005045.4(RELN):c.7022G>A (p.Gly2341Asp)
|
rs1830123310
|
|
|
NM_005045.4(RELN):c.7043G>A (p.Gly2348Asp)
|
rs1226611405
|
|
|
NM_005045.4(RELN):c.7054G>A (p.Asp2352Asn)
|
|
|
|
NM_005045.4(RELN):c.7054G>T (p.Asp2352Tyr)
|
rs375751630
|
|
|
NM_005045.4(RELN):c.7059C>T (p.Ala2353=)
|
|
|
|
NM_005045.4(RELN):c.7063G>T (p.Val2355Phe)
|
rs1442114983
|
|
|
NM_005045.4(RELN):c.7085C>T (p.Thr2362Ile)
|
rs749494726
|
|
|
NM_005045.4(RELN):c.7088G>A (p.Arg2363His)
|
|
|
|
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.7093G>C (p.Val2365Leu)
|
|
|
|
NM_005045.4(RELN):c.7097T>A (p.Val2366Asp)
|
rs1830121221
|
|
|
NM_005045.4(RELN):c.7102A>G (p.Thr2368Ala)
|
|
|
|
NM_005045.4(RELN):c.7109T>C (p.Val2370Ala)
|
|
|
|
NM_005045.4(RELN):c.7110_7111inv (p.Ala2371Thr)
|
|
|
|
NM_005045.4(RELN):c.7113C>T (p.Ala2371=)
|
rs756738550
|
|
|
NM_005045.4(RELN):c.7117A>C (p.Asn2373His)
|
|
|
|
NM_005045.4(RELN):c.7119T>G (p.Asn2373Lys)
|
rs1830120492
|
|
|
NM_005045.4(RELN):c.714T>C (p.Asn238=)
|
|
|
|
NM_005045.4(RELN):c.7164C>T (p.Val2388=)
|
|
|
|
NM_005045.4(RELN):c.7172C>G (p.Ser2391Cys)
|
rs2117126476
|
|
|
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+1G>T
|
rs2117126444
|
|
|
NM_005045.4(RELN):c.7180+7A>G
|
rs1830119075
|
|
|
NM_005045.4(RELN):c.7180G>A (p.Ala2394Thr)
|
|
|
|
NM_005045.4(RELN):c.7181-13T>C
|
|
|
|
NM_005045.4(RELN):c.7188A>G (p.Glu2396=)
|
rs776781331
|
|
|
NM_005045.4(RELN):c.7189T>C (p.Leu2397=)
|
|
|
|
NM_005045.4(RELN):c.7224C>T (p.His2408=)
|
|
|
|
NM_005045.4(RELN):c.7231G>A (p.Val2411Ile)
|
rs375160285
|
|
|
NM_005045.4(RELN):c.7243C>G (p.Leu2415Val)
|
|
|
|
NM_005045.4(RELN):c.7256T>C (p.Val2419Ala)
|
rs777442978
|
|
|
NM_005045.4(RELN):c.7266T>A (p.Ser2422Arg)
|
|
|
|
NM_005045.4(RELN):c.7267C>A (p.Arg2423Ser)
|
|
|
|
NM_005045.4(RELN):c.7270T>C (p.Tyr2424His)
|
|
|
|
NM_005045.4(RELN):c.7276C>T (p.Leu2426=)
|
|
|
|
NM_005045.4(RELN):c.7281A>G (p.Gln2427=)
|
rs1830026530
|
|
|
NM_005045.4(RELN):c.7283G>A (p.Arg2428Gln)
|
rs948422815
|
|
|
NM_005045.4(RELN):c.7287C>A (p.Ile2429=)
|
rs915583909
|
|
|
NM_005045.4(RELN):c.7290G>A (p.Leu2430=)
|
|
|
|
NM_005045.4(RELN):c.7305C>G (p.Phe2435Leu)
|
|
|
|
NM_005045.4(RELN):c.7305CAA[1] (p.Asn2436del)
|
rs1830026038
|
|
|
NM_005045.4(RELN):c.7316C>T (p.Thr2439Ile)
|
|
|
|
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.7350-10T>A
|
rs751104633
|
|
|
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.7370G>A (p.Arg2457His)
|
rs371157614
|
|
|
NM_005045.4(RELN):c.7376A>G (p.His2459Arg)
|
|
|
|
NM_005045.4(RELN):c.7383A>G (p.Pro2461=)
|
|
|
|
NM_005045.4(RELN):c.7384G>C (p.Ala2462Pro)
|
|
|
|
NM_005045.4(RELN):c.7386_7387delinsAA (p.Pro2463Thr)
|
|
|
|
NM_005045.4(RELN):c.7414A>G (p.Ile2472Val)
|
|
|
|
NM_005045.4(RELN):c.7431C>A (p.Ile2477=)
|
rs775529885
|
|
|
NM_005045.4(RELN):c.7432G>A (p.Gly2478Arg)
|
|
|
|
NM_005045.4(RELN):c.7436A>G (p.Asp2479Gly)
|
|
|
|
NM_005045.4(RELN):c.7445T>C (p.Ile2482Thr)
|
rs1193227613
|
|
|
NM_005045.4(RELN):c.7460G>C (p.Gly2487Ala)
|
|
|
|
NM_005045.4(RELN):c.7475T>C (p.Ile2492Thr)
|
|
|
|
NM_005045.4(RELN):c.7484A>T (p.Asn2495Ile)
|
|
|
|
NM_005045.4(RELN):c.748G>A (p.Glu250Lys)
|
rs199961531
|
|
|
NM_005045.4(RELN):c.7490+13T>C
|
|
|
|
NM_005045.4(RELN):c.7490+16dup
|
rs761790873
|
|
|
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.7498G>A (p.Glu2500Lys)
|
rs1554369707
|
|
|
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.7540C>T (p.Leu2514Phe)
|
rs1829722994
|
|
|
NM_005045.4(RELN):c.7577C>T (p.Pro2526Leu)
|
rs1829721999
|
|
|
NM_005045.4(RELN):c.7587G>A (p.Gln2529=)
|
|
|
|
NM_005045.4(RELN):c.7590C>T (p.Asn2530=)
|
|
|
|
NM_005045.4(RELN):c.7599T>G (p.Thr2533=)
|
|
|
|
NM_005045.4(RELN):c.7601T>C (p.Val2534Ala)
|
|
|
|
NM_005045.4(RELN):c.7602G>A (p.Val2534=)
|
rs2117092146
|
|
|
NM_005045.4(RELN):c.7605C>A (p.Asn2535Lys)
|
rs750764421
|
|
|
NM_005045.4(RELN):c.7605C>T (p.Asn2535=)
|
rs750764421
|
|
|
NM_005045.4(RELN):c.7615T>C (p.Leu2539=)
|
|
|
|
NM_005045.4(RELN):c.7624G>C (p.Val2542Leu)
|
rs1829720851
|
|
|
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.7636G>A (p.Val2546Met)
|
|
|
|
NM_005045.4(RELN):c.7643C>T (p.Ser2548Leu)
|
|
|
|
NM_005045.4(RELN):c.7644G>C (p.Ser2548=)
|
|
|
|
NM_005045.4(RELN):c.7648A>G (p.Met2550Val)
|
rs1829719853
|
|
|
NM_005045.4(RELN):c.765C>T (p.Gly255=)
|
|
|
|
NM_005045.4(RELN):c.7660T>C (p.Phe2554Leu)
|
rs2117091992
|
|
|
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.7668G>A (p.Gly2556=)
|
|
|
|
NM_005045.4(RELN):c.7668G>C (p.Gly2556=)
|
rs1554369642
|
|
|
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.7696G>A (p.Asp2566Asn)
|
|
|
|
NM_005045.4(RELN):c.7700T>G (p.Leu2567Arg)
|
rs2117085948
|
|
|
NM_005045.4(RELN):c.7703A>G (p.Asn2568Ser)
|
rs1227007493
|
|
|
NM_005045.4(RELN):c.7722C>A (p.Phe2574Leu)
|
rs2117085900
|
|
|
NM_005045.4(RELN):c.7725C>T (p.Ile2575=)
|
rs2117085893
|
|
|
NM_005045.4(RELN):c.7739T>A (p.Met2580Lys)
|
|
|
|
NM_005045.4(RELN):c.773C>T (p.Thr258Ile)
|
rs1790120421
|
|
|
NM_005045.4(RELN):c.7742A>G (p.Tyr2581Cys)
|
|
|
|
NM_005045.4(RELN):c.7752G>A (p.Leu2584=)
|
rs2117085861
|
|
|
NM_005045.4(RELN):c.7799T>C (p.Val2600Ala)
|
|
|
|
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.7821C>A (p.Asn2607Lys)
|
|
|
|
NM_005045.4(RELN):c.7821C>G (p.Asn2607Lys)
|
|
|
|
NM_005045.4(RELN):c.7821C>T (p.Asn2607=)
|
|
|
|
NM_005045.4(RELN):c.7828A>C (p.Met2610Leu)
|
rs200076453
|
|
|
NM_005045.4(RELN):c.782C>T (p.Ala261Val)
|
|
|
|
NM_005045.4(RELN):c.7834A>C (p.Ile2612Leu)
|
|
|
|
NM_005045.4(RELN):c.7834A>G (p.Ile2612Val)
|
rs768772335
|
|
|
NM_005045.4(RELN):c.7839C>G (p.Phe2613Leu)
|
|
|
|
NM_005045.4(RELN):c.7843G>A (p.Asp2615Asn)
|
rs772130779
|
|
|
NM_005045.4(RELN):c.7851C>T (p.Tyr2617=)
|
|
|
|
NM_005045.4(RELN):c.7852A>G (p.Ser2618Gly)
|
|
|
|
NM_005045.4(RELN):c.7858C>A (p.Pro2620Thr)
|
|
|
|
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.7882C>A (p.Pro2628Thr)
|
|
|
|
NM_005045.4(RELN):c.7886C>G (p.Pro2629Arg)
|
|
|
|
NM_005045.4(RELN):c.7886C>T (p.Pro2629Leu)
|
|
|
|
NM_005045.4(RELN):c.7887_7888inv (p.Asp2630Asn)
|
|
|
|
NM_005045.4(RELN):c.789C>T (p.Val263=)
|
|
|
|
NM_005045.4(RELN):c.78G>C (p.Ala26=)
|
rs1196068638
|
|
|
NM_005045.4(RELN):c.7903G>T (p.Ala2635Ser)
|
rs143751470
|
|
|
NM_005045.4(RELN):c.7909C>A (p.Arg2637Ser)
|
|
|
|
NM_005045.4(RELN):c.7909C>T (p.Arg2637Cys)
|
rs587780438
|
|
|
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.7934A>C (p.His2645Pro)
|
|
|
|
NM_005045.4(RELN):c.7949A>G (p.Gln2650Arg)
|
|
|
|
NM_005045.4(RELN):c.794A>G (p.Gln265Arg)
|
rs2115907767
|
|
|
NM_005045.4(RELN):c.7959G>C (p.Trp2653Cys)
|
|
|
|
NM_005045.4(RELN):c.7960G>A (p.Ala2654Thr)
|
rs200915887
|
|
|
NM_005045.4(RELN):c.7966G>A (p.Asp2656Asn)
|
|
|
|
NM_005045.4(RELN):c.7968C>T (p.Asp2656=)
|
rs2117076324
|
|
|
NM_005045.4(RELN):c.7970A>G (p.Asn2657Ser)
|
|
|
|
NM_005045.4(RELN):c.7983A>G (p.Ser2661=)
|
rs2117076292
|
|
|
NM_005045.4(RELN):c.7993G>A (p.Asp2665Asn)
|
|
|
|
NM_005045.4(RELN):c.79G>A (p.Ala27Thr)
|
rs2116860341
|
|
|
NM_005045.4(RELN):c.8002A>G (p.Thr2668Ala)
|
rs1829535471
|
|
|
NM_005045.4(RELN):c.8009T>C (p.Met2670Thr)
|
rs550287694
|
|
|
NM_005045.4(RELN):c.8011C>T (p.Leu2671=)
|
|
|
|
NM_005045.4(RELN):c.8025C>T (p.Ser2675=)
|
|
|
|
NM_005045.4(RELN):c.8027G>A (p.Ser2676Asn)
|
|
|
|
NM_005045.4(RELN):c.8027G>C (p.Ser2676Thr)
|
rs1829534533
|
|
|
NM_005045.4(RELN):c.8031C>G (p.Ala2677=)
|
rs775819927
|
|
|
NM_005045.4(RELN):c.8031C>T (p.Ala2677=)
|
|
|
|
NM_005045.4(RELN):c.8035G>C (p.Val2679Leu)
|
|
|
|
NM_005045.4(RELN):c.8041C>T (p.Gln2681Ter)
|
|
|
|
NM_005045.4(RELN):c.8047G>T (p.Glu2683Ter)
|
rs1829533362
|
|
|
NM_005045.4(RELN):c.805+13dup
|
|
|
|
NM_005045.4(RELN):c.805+18G>A
|
|
|
|
NM_005045.4(RELN):c.805+1G>T
|
|
|
|
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.8061A>G (p.Ala2687=)
|
|
|
|
NM_005045.4(RELN):c.8063A>T (p.Asp2688Val)
|
rs1829532646
|
|
|
NM_005045.4(RELN):c.8066C>T (p.Ala2689Val)
|
rs762107181
|
|
|
NM_005045.4(RELN):c.8067C>T (p.Ala2689=)
|
|
|
|
NM_005045.4(RELN):c.8068G>C (p.Gly2690Arg)
|
|
|
|
NM_005045.4(RELN):c.8073T>C (p.Pro2691=)
|
rs775986044
|
|
|
NM_005045.4(RELN):c.8074G>T (p.Val2692Phe)
|
|
|
|
NM_005045.4(RELN):c.8077G>A (p.Gly2693Arg)
|
|
|
|
NM_005045.4(RELN):c.8082G>C (p.Arg2694Ser)
|
rs746311326
|
|
|
NM_005045.4(RELN):c.8083A>C (p.Ile2695Leu)
|
rs1829531529
|
|
|
NM_005045.4(RELN):c.8094C>T (p.Asp2698=)
|
|
|
|
NM_005045.4(RELN):c.8097G>A (p.Met2699Ile)
|
rs1829531012
|
|
|
NM_005045.4(RELN):c.8114C>T (p.Thr2705Ile)
|
rs1554368281
|
|
|
NM_005045.4(RELN):c.8118A>G (p.Ser2706=)
|
|
|
|
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+6T>G
|
rs767551473
|
|
|
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.8120-9dup
|
|
|
|
NM_005045.4(RELN):c.8121G>A (p.Val2707=)
|
rs1345247825
|
|
|
NM_005045.4(RELN):c.8121G>C (p.Val2707=)
|
|
|
|
NM_005045.4(RELN):c.8123A>C (p.Asn2708Thr)
|
rs1829391748
|
|
|
NM_005045.4(RELN):c.8130C>A (p.His2710Gln)
|
|
|
|
NM_005045.4(RELN):c.8154A>T (p.Thr2718=)
|
rs1554367205
|
|
|
NM_005045.4(RELN):c.8155G>A (p.Val2719Ile)
|
|
|
|
NM_005045.4(RELN):c.8159A>G (p.Glu2720Gly)
|
rs1829390259
|
|
|
NM_005045.4(RELN):c.8171A>T (p.Asp2724Val)
|
|
|
|
NM_005045.4(RELN):c.8181T>A (p.Asp2727Glu)
|
|
|
|
NM_005045.4(RELN):c.8181T>C (p.Asp2727=)
|
|
|
|
NM_005045.4(RELN):c.8183G>A (p.Gly2728Asp)
|
|
|
|
NM_005045.4(RELN):c.8195G>T (p.Cys2732Phe)
|
rs777843062
|
|
|
NM_005045.4(RELN):c.8198G>A (p.Gly2733Asp)
|
rs1296648504
|
|
|
NM_005045.4(RELN):c.8203C>T (p.His2735Tyr)
|
rs1219212571
|
|
|
NM_005045.4(RELN):c.8205T>C (p.His2735=)
|
|
|
|
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.8225C>T (p.Ala2742Val)
|
|
|
|
NM_005045.4(RELN):c.8241G>A (p.Leu2747=)
|
rs1829385355
|
|
|
NM_005045.4(RELN):c.8247C>A (p.Pro2749=)
|
|
|
|
NM_005045.4(RELN):c.8249C>T (p.Thr2750Ile)
|
|
|
|
NM_005045.4(RELN):c.8254G>A (p.Gly2752Ser)
|
rs968146584
|
|
|
NM_005045.4(RELN):c.8259G>C (p.Trp2753Cys)
|
|
|
|
NM_005045.4(RELN):c.8260del (p.Ile2754fs)
|
rs2117061849
|
|
|
NM_005045.4(RELN):c.8263A>G (p.Met2755Val)
|
|
|
|
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.827G>C (p.Ser276Thr)
|
|
|
|
NM_005045.4(RELN):c.8281G>T (p.Val2761Phe)
|
rs1829094065
|
|
|
NM_005045.4(RELN):c.8306T>C (p.Ile2769Thr)
|
rs997515801
|
|
|
NM_005045.4(RELN):c.8314A>C (p.Asn2772His)
|
|
|
|
NM_005045.4(RELN):c.8315A>T (p.Asn2772Ile)
|
|
|
|
NM_005045.4(RELN):c.831T>C (p.Tyr277=)
|
rs398124192
|
|
|
NM_005045.4(RELN):c.8325T>C (p.His2775=)
|
|
|
|
NM_005045.4(RELN):c.8327T>G (p.Val2776Gly)
|
|
|
|
NM_005045.4(RELN):c.832T>C (p.Ser278Pro)
|
rs2115796319
|
|
|
NM_005045.4(RELN):c.8335T>A (p.Ser2779Thr)
|
rs1829091955
|
|
|
NM_005045.4(RELN):c.8346C>T (p.Phe2782=)
|
|
|
|
NM_005045.4(RELN):c.8347G>T (p.Gly2783Cys)
|
rs794727997
|
|
|
NM_005045.4(RELN):c.8371C>T (p.Pro2791Ser)
|
rs2117039679
|
|
|
NM_005045.4(RELN):c.837C>A (p.Asp279Glu)
|
rs1295965524
|
|
|
NM_005045.4(RELN):c.8386G>A (p.Ala2796Thr)
|
|
|
|
NM_005045.4(RELN):c.838C>G (p.Pro280Ala)
|
rs2115796279
|
|
|
NM_005045.4(RELN):c.8390A>G (p.Asp2797Gly)
|
rs1829089680
|
|
|
NM_005045.4(RELN):c.8391C>G (p.Asp2797Glu)
|
rs1829089585
|
|
|
NM_005045.4(RELN):c.8392C>T (p.Pro2798Ser)
|
|
|
|
NM_005045.4(RELN):c.8398T>C (p.Cys2800Arg)
|
|
|
|
NM_005045.4(RELN):c.8404G>C (p.Gly2802Arg)
|
|
|
|
NM_005045.4(RELN):c.8411T>C (p.Val2804Ala)
|
rs192835206
|
|
|
NM_005045.4(RELN):c.8414C>T (p.Ser2805Phe)
|
|
|
|
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.8430C>A (p.Phe2810Leu)
|
|
|
|
NM_005045.4(RELN):c.8433del (p.Pro2812fs)
|
|
|
|
NM_005045.4(RELN):c.8438C>A (p.Thr2813Asn)
|
|
|
|
NM_005045.4(RELN):c.843C>A (p.Ser281Arg)
|
|
|
|
NM_005045.4(RELN):c.843C>T (p.Ser281=)
|
rs1277811940
|
|
|
NM_005045.4(RELN):c.8440A>G (p.Lys2814Glu)
|
rs2117039456
|
|
|
NM_005045.4(RELN):c.8445G>A (p.Gly2815=)
|
rs1156230944
|
|
|
NM_005045.4(RELN):c.8445G>T (p.Gly2815=)
|
|
|
|
NM_005045.4(RELN):c.844A>G (p.Ile282Val)
|
rs753624426
|
|
|
NM_005045.4(RELN):c.8453G>T (p.Arg2818Met)
|
|
|
|
NM_005045.4(RELN):c.8470C>T (p.Pro2824Ser)
|
rs1224908089
|
|
|
NM_005045.4(RELN):c.8486G>A (p.Gly2829Glu)
|
|
|
|
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.8492C>T (p.Pro2831Leu)
|
|
|
|
NM_005045.4(RELN):c.8494G>C (p.Val2832Leu)
|
|
|
|
NM_005045.4(RELN):c.8495T>C (p.Val2832Ala)
|
rs1257978206
|
|
|
NM_005045.4(RELN):c.8500T>C (p.Phe2834Leu)
|
|
|
|
NM_005045.4(RELN):c.8516A>G (p.Lys2839Arg)
|
|
|
|
NM_005045.4(RELN):c.8534G>T (p.Trp2845Leu)
|
|
|
|
NM_005045.4(RELN):c.8537C>T (p.Ala2846Val)
|
|
|
|
NM_005045.4(RELN):c.8539A>G (p.Ile2847Val)
|
|
|
|
NM_005045.4(RELN):c.8544T>C (p.Asp2848=)
|
rs1829003681
|
|
|
NM_005045.4(RELN):c.854T>C (p.Leu285Ser)
|
|
|
|
NM_005045.4(RELN):c.8551T>C (p.Tyr2851His)
|
|
|
|
NM_005045.4(RELN):c.8575A>G (p.Asn2859Asp)
|
rs1829002656
|
|
|
NM_005045.4(RELN):c.8577C>T (p.Asn2859=)
|
rs1162398803
|
|
|
NM_005045.4(RELN):c.8578T>G (p.Cys2860Gly)
|
rs1829002405
|
|
|
NM_005045.4(RELN):c.857A>G (p.Tyr286Cys)
|
|
|
|
NM_005045.4(RELN):c.8583G>A (p.Arg2861=)
|
|
|
|
NM_005045.4(RELN):c.8590G>A (p.Gly2864Arg)
|
rs1456617471
|
|
|
NM_005045.4(RELN):c.859G>A (p.Ala287Thr)
|
|
|
|
NM_005045.4(RELN):c.859G>T (p.Ala287Ser)
|
|
|
|
NM_005045.4(RELN):c.8604G>C (p.Arg2868Ser)
|
|
|
|
NM_005045.4(RELN):c.8605G>C (p.Glu2869Gln)
|
|
|
|
NM_005045.4(RELN):c.8614A>G (p.Ile2872Val)
|
rs765151646
|
|
|
NM_005045.4(RELN):c.8616C>T (p.Ile2872=)
|
|
|
|
NM_005045.4(RELN):c.8624C>G (p.Pro2875Arg)
|
rs761738403
|
|
|
NM_005045.4(RELN):c.862A>G (p.Lys288Glu)
|
rs1834077767
|
|
|
NM_005045.4(RELN):c.8640A>C (p.Pro2880=)
|
rs369307806
|
|
|
NM_005045.4(RELN):c.8651T>C (p.Leu2884Ser)
|
rs1829000128
|
|
|
NM_005045.4(RELN):c.8653A>T (p.Thr2885Ser)
|
|
|
|
NM_005045.4(RELN):c.8656C>T (p.His2886Tyr)
|
rs749712401
|
|
|
NM_005045.4(RELN):c.8657A>G (p.His2886Arg)
|
rs778109079
|
|
|
NM_005045.4(RELN):c.865A>G (p.Asn289Asp)
|
rs1562962642
|
|
|
NM_005045.4(RELN):c.8663T>C (p.Leu2888Pro)
|
|
|
|
NM_005045.4(RELN):c.8664G>C (p.Leu2888=)
|
|
|
|
NM_005045.4(RELN):c.8667+17G>C
|
rs749919235
|
|
|
NM_005045.4(RELN):c.8667+6G>A
|
|
|
|
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.8668A>G (p.Thr2890Ala)
|
|
|
|
NM_005045.4(RELN):c.8672T>A (p.Phe2891Tyr)
|
rs752516448
|
|
|
NM_005045.4(RELN):c.8673C>A (p.Phe2891Leu)
|
rs200157006
|
|
|
NM_005045.4(RELN):c.8673C>T (p.Phe2891=)
|
rs200157006
|
|
|
NM_005045.4(RELN):c.8683C>A (p.Arg2895Ser)
|
|
|
|
NM_005045.4(RELN):c.8683C>T (p.Arg2895Cys)
|
|
|
|
NM_005045.4(RELN):c.8684G>A (p.Arg2895His)
|
|
|
|
NM_005045.4(RELN):c.8691C>T (p.Asp2897=)
|
rs763188823
|
|
|
NM_005045.4(RELN):c.8698G>T (p.Glu2900Ter)
|
|
|
|
NM_005045.4(RELN):c.8710G>T (p.Asp2904Tyr)
|
rs1828900147
|
|
|
NM_005045.4(RELN):c.8716T>C (p.Trp2906Arg)
|
|
|
|
NM_005045.4(RELN):c.8723C>T (p.Ser2908Phe)
|
|
|
|
NM_005045.4(RELN):c.8732G>T (p.Gly2911Val)
|
|
|
|
NM_005045.4(RELN):c.8737A>G (p.Ser2913Gly)
|
rs2117025482
|
|
|
NM_005045.4(RELN):c.874G>C (p.Ala292Pro)
|
rs1478514178
|
|
|
NM_005045.4(RELN):c.875C>G (p.Ala292Gly)
|
rs138975479
|
|
|
NM_005045.4(RELN):c.8792G>A (p.Gly2931Glu)
|
rs1465519249
|
|
|
NM_005045.4(RELN):c.8799T>C (p.Thr2933=)
|
|
|
|
NM_005045.4(RELN):c.8809G>A (p.Ala2937Thr)
|
rs750491016
|
|
|
NM_005045.4(RELN):c.8810C>T (p.Ala2937Val)
|
rs765433534
|
|
|
NM_005045.4(RELN):c.8812G>A (p.Val2938Ile)
|
|
|
|
NM_005045.4(RELN):c.8827G>C (p.Asp2943His)
|
rs1828895929
|
|
|
NM_005045.4(RELN):c.883A>G (p.Ile295Val)
|
rs1834076706
|
|
|
NM_005045.4(RELN):c.8843+16del
|
rs2117025123
|
|
|
NM_005045.4(RELN):c.8843+2T>C
|
|
|
|
NM_005045.4(RELN):c.8844-11C>T
|
rs1015958070
|
|
|
NM_005045.4(RELN):c.8844-11del
|
|
|
|
NM_005045.4(RELN):c.8861G>A (p.Gly2954Glu)
|
|
|
|
NM_005045.4(RELN):c.8864G>A (p.Arg2955His)
|
|
|
|
NM_005045.4(RELN):c.8879ACA[1] (p.Asn2961del)
|
|
|
|
NM_005045.4(RELN):c.8882A>C (p.Asn2961Thr)
|
|
|
|
NM_005045.4(RELN):c.8888C>T (p.Thr2963Ile)
|
|
|
|
NM_005045.4(RELN):c.8912G>A (p.Arg2971Gln)
|
rs1562852978
|
|
|
NM_005045.4(RELN):c.8920G>A (p.Gly2974Ser)
|
|
|
|
NM_005045.4(RELN):c.8922C>T (p.Gly2974=)
|
rs544687307
|
|
|
NM_005045.4(RELN):c.892G>A (p.Glu298Lys)
|
rs563525929
|
|
|
NM_005045.4(RELN):c.8930T>C (p.Leu2977Ser)
|
|
|
|
NM_005045.4(RELN):c.8943C>A (p.Thr2981=)
|
rs199505446
|
|
|
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+12G>A
|
|
|
|
NM_005045.4(RELN):c.8950+4T>A
|
|
|
|
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.8953A>G (p.Ile2985Val)
|
|
|
|
NM_005045.4(RELN):c.8957C>T (p.Thr2986Ile)
|
|
|
|
NM_005045.4(RELN):c.8962A>T (p.Thr2988Ser)
|
|
|
|
NM_005045.4(RELN):c.8966T>C (p.Leu2989Ser)
|
rs2117021480
|
|
|
NM_005045.4(RELN):c.8967G>T (p.Leu2989Phe)
|
rs1828853834
|
|
|
NM_005045.4(RELN):c.8973T>C (p.His2991=)
|
|
|
|
NM_005045.4(RELN):c.89A>G (p.Tyr30Cys)
|
|
|
|
NM_005045.4(RELN):c.8G>T (p.Arg3Leu)
|
rs2116860662
|
|
|
NM_005045.4(RELN):c.9005G>C (p.Arg3002Thr)
|
rs758922383
|
|
|
NM_005045.4(RELN):c.9009C>G (p.His3003Gln)
|
rs750882329
|
|
|
NM_005045.4(RELN):c.9018A>G (p.Ile3006Met)
|
|
|
|
NM_005045.4(RELN):c.902+7T>A
|
|
|
|
NM_005045.4(RELN):c.902+7del
|
|
|
|
NM_005045.4(RELN):c.9022C>T (p.Leu3008Phe)
|
rs2117021193
|
|
|
NM_005045.4(RELN):c.9027T>G (p.Pro3009=)
|
|
|
|
NM_005045.4(RELN):c.9030_9032del (p.Glu3010del)
|
rs1828851549
|
|
|
NM_005045.4(RELN):c.9032A>G (p.Asp3011Gly)
|
|
|
|
NM_005045.4(RELN):c.9052C>T (p.Arg3018Ter)
|
rs2117021067
|
|
|
NM_005045.4(RELN):c.9053G>A (p.Arg3018Gln)
|
rs1828850685
|
|
|
NM_005045.4(RELN):c.9053G>T (p.Arg3018Leu)
|
rs1828850685
|
|
|
NM_005045.4(RELN):c.9081C>T (p.Ile3027=)
|
|
|
|
NM_005045.4(RELN):c.9095T>A (p.Val3032Glu)
|
|
|
|
NM_005045.4(RELN):c.9095T>C (p.Val3032Ala)
|
rs1828849563
|
|
|
NM_005045.4(RELN):c.90C>T (p.Tyr30=)
|
|
|
|
NM_005045.4(RELN):c.9108G>A (p.Val3036=)
|
|
|
|
NM_005045.4(RELN):c.911C>T (p.Ser304Phe)
|
|
|
|
NM_005045.4(RELN):c.913A>G (p.Asn305Asp)
|
|
|
|
NM_005045.4(RELN):c.915T>A (p.Asn305Lys)
|
|
|
|
NM_005045.4(RELN):c.9172T>A (p.Leu3058Met)
|
rs2286261
|
|
|
NM_005045.4(RELN):c.917T>C (p.Val306Ala)
|
|
|
|
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.9194-10T>A
|
rs1242391167
|
|
|
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.9205C>A (p.His3069Asn)
|
rs1828826425
|
|
|
NM_005045.4(RELN):c.921C>T (p.Ser307=)
|
|
|
|
NM_005045.4(RELN):c.9222T>C (p.Ser3074=)
|
rs771439100
|
|
|
NM_005045.4(RELN):c.9230C>T (p.Pro3077Leu)
|
rs2117018752
|
|
|
NM_005045.4(RELN):c.9233A>G (p.Asn3078Ser)
|
|
|
|
NM_005045.4(RELN):c.9235G>T (p.Ala3079Ser)
|
|
|
|
NM_005045.4(RELN):c.9237_9248del (p.Val3080_Ala3083del)
|
rs2117018688
|
|
|
NM_005045.4(RELN):c.9248C>A (p.Ala3083Glu)
|
|
|
|
NM_005045.4(RELN):c.9248C>G (p.Ala3083Gly)
|
rs1828825003
|
|
|
NM_005045.4(RELN):c.9263A>G (p.Asn3088Ser)
|
|
|
|
NM_005045.4(RELN):c.9276C>T (p.His3092=)
|
rs794727768
|
|
|
NM_005045.4(RELN):c.9289A>G (p.Asn3097Asp)
|
rs2117018592
|
|
|
NM_005045.4(RELN):c.9291T>C (p.Asn3097=)
|
|
|
|
NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del)
|
rs762015967
|
|
|
NM_005045.4(RELN):c.929T>A (p.Ile310Asn)
|
rs1351187654
|
|
|
NM_005045.4(RELN):c.92C>T (p.Pro31Leu)
|
rs759623259
|
|
|
NM_005045.4(RELN):c.930C>G (p.Ile310Met)
|
|
|
|
NM_005045.4(RELN):c.9318T>C (p.Ala3106=)
|
|
|
|
NM_005045.4(RELN):c.9319C>G (p.Leu3107Val)
|
rs764063544
|
|
|
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.932A>G (p.His311Arg)
|
rs766323203
|
|
|
NM_005045.4(RELN):c.9347C>T (p.Pro3116Leu)
|
rs1166597421
|
|
|
NM_005045.4(RELN):c.9357G>A (p.Met3119Ile)
|
|
|
|
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.9369+6G>A
|
|
|
|
NM_005045.4(RELN):c.9370-13_9370-12del
|
rs1828690313
|
|
|
NM_005045.4(RELN):c.9370-13_9370-8del
|
rs141397961
|
|
|
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.9379G>T (p.Gly3127Cys)
|
|
|
|
NM_005045.4(RELN):c.9384T>C (p.Cys3128=)
|
rs2117007355
|
|
|
NM_005045.4(RELN):c.9394T>G (p.Ser3132Ala)
|
rs2117007337
|
|
|
NM_005045.4(RELN):c.9398GTG[1] (p.Gly3134del)
|
|
|
|
NM_005045.4(RELN):c.9406C>G (p.Leu3136Val)
|
rs767535167
|
|
|
NM_005045.4(RELN):c.9419T>G (p.Met3140Arg)
|
|
|
|
NM_005045.4(RELN):c.941A>G (p.Tyr314Cys)
|
rs770001337
|
|
|
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.9439G>T (p.Ala3147Ser)
|
rs150485168
|
|
|
NM_005045.4(RELN):c.9442A>C (p.Arg3148=)
|
|
|
|
NM_005045.4(RELN):c.9443+13A>C
|
|
|
|
NM_005045.4(RELN):c.9443+3T>G
|
|
|
|
NM_005045.4(RELN):c.9443+4T>C
|
rs1828687122
|
|
|
NM_005045.4(RELN):c.9444-10G>T
|
rs575743816
|
|
|
NM_005045.4(RELN):c.9444-11G>T
|
|
|
|
NM_005045.4(RELN):c.9444-12dup
|
|
|
|
NM_005045.4(RELN):c.9444-17C>G
|
|
|
|
NM_005045.4(RELN):c.9444-1G>A
|
rs1828624396
|
|
|
NM_005045.4(RELN):c.9444A>G (p.Arg3148=)
|
rs1277733317
|
|
|
NM_005045.4(RELN):c.9447G>C (p.Ser3149=)
|
rs770503009
|
|
|
NM_005045.4(RELN):c.9447G>T (p.Ser3149=)
|
|
|
|
NM_005045.4(RELN):c.9448G>T (p.Asp3150Tyr)
|
|
|
|
NM_005045.4(RELN):c.9459G>C (p.Gln3153His)
|
rs1554362509
|
|
|
NM_005045.4(RELN):c.9460C>T (p.Leu3154Phe)
|
|
|
|
NM_005045.4(RELN):c.9466C>G (p.Gln3156Glu)
|
|
|
|
NM_005045.4(RELN):c.9468G>A (p.Gln3156=)
|
rs1340943020
|
|
|
NM_005045.4(RELN):c.9474dup (p.Cys3159fs)
|
|
|
|
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.9497G>A (p.Ser3166Asn)
|
rs1828622359
|
|
|
NM_005045.4(RELN):c.9499A>T (p.Ile3167Phe)
|
rs2117002216
|
|
|
NM_005045.4(RELN):c.9505T>G (p.Cys3169Gly)
|
rs1394617861
|
|
|
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.9520T>C (p.Phe3174Leu)
|
|
|
|
NM_005045.4(RELN):c.9525T>C (p.His3175=)
|
rs1241219063
|
|
|
NM_005045.4(RELN):c.9526G>A (p.Glu3176Lys)
|
rs794727999
|
|
|
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+4G>C
|
rs1338699707
|
|
|
NM_005045.4(RELN):c.9605+6T>C
|
rs376881823
|
|
|
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.9606-3C>T
|
rs376550183
|
|
|
NM_005045.4(RELN):c.9606-6_9606-3dup
|
|
|
|
NM_005045.4(RELN):c.9611C>T (p.Thr3204Ile)
|
|
|
|
NM_005045.4(RELN):c.9615G>T (p.Gln3205His)
|
rs2116999262
|
|
|
NM_005045.4(RELN):c.9620G>A (p.Arg3207His)
|
rs992226248
|
|
|
NM_005045.4(RELN):c.9627C>A (p.Ile3209=)
|
|
|
|
NM_005045.4(RELN):c.9628C>G (p.Gln3210Glu)
|
|
|
|
NM_005045.4(RELN):c.9629A>G (p.Gln3210Arg)
|
|
|
|
NM_005045.4(RELN):c.9634G>A (p.Gly3212Arg)
|
rs1828588593
|
|
|
NM_005045.4(RELN):c.9635G>A (p.Gly3212Glu)
|
|
|
|
NM_005045.4(RELN):c.9651G>T (p.Lys3217Asn)
|
|
|
|
NM_005045.4(RELN):c.9657C>G (p.Ser3219Arg)
|
rs1828587974
|
|
|
NM_005045.4(RELN):c.9659G>T (p.Trp3220Leu)
|
|
|
|
NM_005045.4(RELN):c.9665T>C (p.Ile3222Thr)
|
rs1828587696
|
|
|
NM_005045.4(RELN):c.9670C>T (p.His3224Tyr)
|
|
|
|
NM_005045.4(RELN):c.9678C>T (p.Tyr3226=)
|
|
|
|
NM_005045.4(RELN):c.9688G>A (p.Ala3230Thr)
|
|
|
|
NM_005045.4(RELN):c.9689C>T (p.Ala3230Val)
|
rs1828586673
|
|
|
NM_005045.4(RELN):c.96C>G (p.Arg32=)
|
rs2116860269
|
|
|
NM_005045.4(RELN):c.9709G>A (p.Gly3237Arg)
|
rs1584222460
|
|
|
NM_005045.4(RELN):c.9715G>A (p.Gly3239Arg)
|
rs1220775268
|
|
|
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>A (p.Gly3244Ser)
|
rs73714410
|
|
|
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.9763+3C>G
|
rs398124195
|
|
|
NM_005045.4(RELN):c.9764-10T>C
|
|
|
|
NM_005045.4(RELN):c.9764-10del
|
rs777831069
|
|
|
NM_005045.4(RELN):c.9764-5T>G
|
|
|
|
NM_005045.4(RELN):c.976T>C (p.Phe326Leu)
|
rs1009178108
|
|
|
NM_005045.4(RELN):c.9783C>T (p.Phe3261=)
|
|
|
|
NM_005045.4(RELN):c.9793C>A (p.Leu3265Ile)
|
|
|
|
NM_005045.4(RELN):c.9794T>C (p.Leu3265Pro)
|
|
|
|
NM_005045.4(RELN):c.9796C>T (p.Pro3266Ser)
|
rs544906913
|
|
|
NM_005045.4(RELN):c.9802T>C (p.Tyr3268His)
|
|
|
|
NM_005045.4(RELN):c.9816T>C (p.Asn3272=)
|
|
|
|
NM_005045.4(RELN):c.9818T>C (p.Phe3273Ser)
|
rs1828440525
|
|
|
NM_005045.4(RELN):c.9826G>T (p.Ala3276Ser)
|
|
|
|
NM_005045.4(RELN):c.982T>C (p.Trp328Arg)
|
rs2115780980
|
|
|
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.9840G>T (p.Glu3280Asp)
|
|
|
|
NM_005045.4(RELN):c.9855C>T (p.Thr3285=)
|
|
|
|
NM_005045.4(RELN):c.9857T>A (p.Ile3286Asn)
|
rs1828439294
|
|
|
NM_005045.4(RELN):c.986A>T (p.Lys329Met)
|
rs1834014175
|
|
|
NM_005045.4(RELN):c.9879T>C (p.Ser3293=)
|
|
|
|
NM_005045.4(RELN):c.9880G>A (p.Gly3294Ser)
|
|
|
|
NM_005045.4(RELN):c.9887G>A (p.Gly3296Glu)
|
|
|
|
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.994A>G (p.Asn332Asp)
|
|
|
|
NM_005045.4(RELN):c.9951A>G (p.Ala3317=)
|
rs1586472713
|
|
|
NM_005045.4(RELN):c.9958A>C (p.Lys3320Gln)
|
|
|
|
NM_005045.4(RELN):c.9962C>G (p.Pro3321Arg)
|
rs1828434848
|
|
|
NM_005045.4(RELN):c.9973A>G (p.Thr3325Ala)
|
|
|
|
NM_005045.4(RELN):c.9975T>G (p.Thr3325=)
|
rs1586472688
|
|
|
NM_005045.4(RELN):c.9976C>T (p.Arg3326Ter)
|
rs751409835
|
|
|
NM_005045.4(RELN):c.9979G>A (p.Ala3327Thr)
|
|
|
|
NM_005045.4(RELN):c.997C>G (p.Leu333Val)
|
rs1219491053
|
|
|
NM_005045.4(RELN):c.9983+15A>G
|
|
|
|
NM_005045.4(RELN):c.9983+16T>C
|
|
|
|
NM_005045.4(RELN):c.9983+5C>A
|
rs1210513203
|
|
|
NM_005045.4(RELN):c.9983+5C>T
|
|
|
|
NM_005045.4(RELN):c.9984-15C>G
|
|
|
|
NM_005045.4(RELN):c.9990C>T (p.Ile3330=)
|
|
|
|
NM_005045.4(RELN):c.9991A>G (p.Met3331Val)
|
rs1554360669
|
|
|
NM_005076.5(CNTN2):c.1001C>T (p.Ser334Leu)
|
|
|
|
NM_005076.5(CNTN2):c.1007C>T (p.Thr336Ile)
|
rs2151192330
|
|
|
NM_005076.5(CNTN2):c.1018A>G (p.Ile340Val)
|
rs2151192340
|
|
|
NM_005076.5(CNTN2):c.102C>T (p.Thr34=)
|
|
|
|
NM_005076.5(CNTN2):c.1063C>T (p.Arg355Trp)
|
|
|
|
NM_005076.5(CNTN2):c.1064G>A (p.Arg355Gln)
|
|
|
|
NM_005076.5(CNTN2):c.1065G>A (p.Arg355=)
|
|
|
|
NM_005076.5(CNTN2):c.1071A>G (p.Thr357=)
|
rs1340324829
|
|
|
NM_005076.5(CNTN2):c.1072G>T (p.Val358Leu)
|
|
|
|
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.1129G>T (p.Ala377Ser)
|
rs2151192775
|
|
|
NM_005076.5(CNTN2):c.1137C>T (p.Asp379=)
|
rs1054922120
|
|
|
NM_005076.5(CNTN2):c.1138C>G (p.Leu380Val)
|
rs2151192794
|
|
|
NM_005076.5(CNTN2):c.1170G>A (p.Ser390=)
|
|
|
|
NM_005076.5(CNTN2):c.1171G>A (p.Gly391Ser)
|
rs1574648714
|
|
|
NM_005076.5(CNTN2):c.1180C>T (p.Gln394Ter)
|
rs2151192841
|
|
|
NM_005076.5(CNTN2):c.1197T>C (p.Asn399=)
|
|
|
|
NM_005076.5(CNTN2):c.1203C>T (p.His401=)
|
|
|
|
NM_005076.5(CNTN2):c.1222G>A (p.Ala408Thr)
|
rs1654048341
|
|
|
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.1240+1G>A
|
rs113709347
|
|
|
NM_005076.5(CNTN2):c.1241-14C>T
|
|
|
|
NM_005076.5(CNTN2):c.1241C>T (p.Ala414Val)
|
rs1654151236
|
|
|
NM_005076.5(CNTN2):c.124C>T (p.Gln42Ter)
|
|
|
|
NM_005076.5(CNTN2):c.1268C>T (p.Pro423Leu)
|
|
|
|
NM_005076.5(CNTN2):c.1269C>T (p.Pro423=)
|
|
|
|
NM_005076.5(CNTN2):c.1286C>T (p.Pro429Leu)
|
|
|
|
NM_005076.5(CNTN2):c.1288G>A (p.Ala430Thr)
|
rs1444735689
|
|
|
NM_005076.5(CNTN2):c.1291G>A (p.Ala431Thr)
|
|
|
|
NM_005076.5(CNTN2):c.1292C>G (p.Ala431Gly)
|
rs2151194175
|
|
|
NM_005076.5(CNTN2):c.1294C>A (p.Arg432Ser)
|
|
|
|
NM_005076.5(CNTN2):c.1297G>A (p.Gly433Arg)
|
rs571201763
|
|
|
NM_005076.5(CNTN2):c.1299G>C (p.Gly433=)
|
|
|
|
NM_005076.5(CNTN2):c.1308C>A (p.Ile436=)
|
|
|
|
NM_005076.5(CNTN2):c.1327dup (p.Arg443fs)
|
|
|
|
NM_005076.5(CNTN2):c.1331C>T (p.Ala444Val)
|
rs2151194250
|
|
|
NM_005076.5(CNTN2):c.1353C>T (p.Leu451=)
|
|
|
|
NM_005076.5(CNTN2):c.1359C>G (p.Ser453Arg)
|
|
|
|
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.1391+5C>T
|
|
|
|
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.1405C>T (p.Pro469Ser)
|
rs147693556
|
|
|
NM_005076.5(CNTN2):c.1414A>T (p.Thr472Ser)
|
rs1654180576
|
|
|
NM_005076.5(CNTN2):c.1415C>A (p.Thr472Asn)
|
rs201092596
|
|
|
NM_005076.5(CNTN2):c.141A>C (p.Leu47=)
|
|
|
|
NM_005076.5(CNTN2):c.1420A>G (p.Ile474Val)
|
|
|
|
NM_005076.5(CNTN2):c.1458C>T (p.Tyr486=)
|
|
|
|
NM_005076.5(CNTN2):c.1461C>G (p.Thr487=)
|
|
|
|
NM_005076.5(CNTN2):c.1494C>G (p.Asn498Lys)
|
|
|
|
NM_005076.5(CNTN2):c.1507C>G (p.Leu503Val)
|
rs766723952
|
|
|
NM_005076.5(CNTN2):c.1507C>T (p.Leu503=)
|
rs766723952
|
|
|
NM_005076.5(CNTN2):c.1516C>G (p.Arg506Gly)
|
|
|
|
NM_005076.5(CNTN2):c.1516C>T (p.Arg506Ter)
|
rs114903768
|
|
|
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+3G>C
|
|
|
|
NM_005076.5(CNTN2):c.1519+5G>A
|
|
|
|
NM_005076.5(CNTN2):c.1519+7G>A
|
rs1346328506
|
|
|
NM_005076.5(CNTN2):c.1519G>A (p.Asp507Asn)
|
rs2151194531
|
|
|
NM_005076.5(CNTN2):c.1520-14G>T
|
rs756912706
|
|
|
NM_005076.5(CNTN2):c.1520-17C>T
|
rs1302100288
|
|
|
NM_005076.5(CNTN2):c.1523C>G (p.Ala508Gly)
|
rs2151194777
|
|
|
NM_005076.5(CNTN2):c.1526C>T (p.Thr509Ile)
|
|
|
|
NM_005076.5(CNTN2):c.1542C>T (p.Ala514=)
|
rs1222050124
|
|
|
NM_005076.5(CNTN2):c.1545C>A (p.Pro515=)
|
|
|
|
NM_005076.5(CNTN2):c.1575C>T (p.Asn525=)
|
|
|
|
NM_005076.5(CNTN2):c.1596C>T (p.Ala532=)
|
rs1003669995
|
|
|
NM_005076.5(CNTN2):c.159_160delinsTT (p.Glu54Ter)
|
|
|
|
NM_005076.5(CNTN2):c.1609A>G (p.Thr537Ala)
|
|
|
|
NM_005076.5(CNTN2):c.1613T>C (p.Met538Thr)
|
|
|
|
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.1642G>A (p.Asp548Asn)
|
rs763451598
|
|
|
NM_005076.5(CNTN2):c.1647C>A (p.Phe549Leu)
|
rs2151194902
|
|
|
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.1682G>A (p.Arg561Gln)
|
|
|
|
NM_005076.5(CNTN2):c.1693G>A (p.Val565Met)
|
|
|
|
NM_005076.5(CNTN2):c.1695+20C>G
|
|
|
|
NM_005076.5(CNTN2):c.1695+2T>C
|
rs763392794
|
|
|
NM_005076.5(CNTN2):c.1695+3G>A
|
|
|
|
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.1696-2A>G
|
|
|
|
NM_005076.5(CNTN2):c.1696-9C>T
|
|
|
|
NM_005076.5(CNTN2):c.1699G>T (p.Glu567Ter)
|
rs867618155
|
|
|
NM_005076.5(CNTN2):c.1708G>T (p.Gly570Trp)
|
rs1654255048
|
|
|
NM_005076.5(CNTN2):c.1724T>A (p.Leu575Gln)
|
|
|
|
NM_005076.5(CNTN2):c.172T>C (p.Leu58=)
|
|
|
|
NM_005076.5(CNTN2):c.1735C>G (p.Leu579Val)
|
|
|
|
NM_005076.5(CNTN2):c.1739G>T (p.Arg580Leu)
|
rs200242849
|
|
|
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.1790C>T (p.Ser597Phe)
|
rs1654262980
|
|
|
NM_005076.5(CNTN2):c.1798G>A (p.Ala600Thr)
|
|
|
|
NM_005076.5(CNTN2):c.179C>T (p.Ala60Val)
|
|
|
|
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.1829C>T (p.Pro610Leu)
|
|
|
|
NM_005076.5(CNTN2):c.1837G>A (p.Gly613Ser)
|
rs1654294617
|
|
|
NM_005076.5(CNTN2):c.1840G>T (p.Val614Leu)
|
rs2151195932
|
|
|
NM_005076.5(CNTN2):c.1848G>A (p.Val616=)
|
|
|
|
NM_005076.5(CNTN2):c.1861G>A (p.Asp621Asn)
|
rs140285037
|
|
|
NM_005076.5(CNTN2):c.1870A>G (p.Ile624Val)
|
|
|
|
NM_005076.5(CNTN2):c.1872C>G (p.Ile624Met)
|
rs202153875
|
|
|
NM_005076.5(CNTN2):c.187G>A (p.Ala63Thr)
|
|
|
|
NM_005076.5(CNTN2):c.1888C>A (p.Arg630Ser)
|
rs574231253
|
|
|
NM_005076.5(CNTN2):c.1888C>T (p.Arg630Cys)
|
rs574231253
|
|
|
NM_005076.5(CNTN2):c.188C>A (p.Ala63Asp)
|
|
|
|
NM_005076.5(CNTN2):c.1907G>A (p.Ser636Asn)
|
|
|
|
NM_005076.5(CNTN2):c.190C>T (p.Arg64Trp)
|
|
|
|
NM_005076.5(CNTN2):c.1913T>C (p.Ile638Thr)
|
rs2151196049
|
|
|
NM_005076.5(CNTN2):c.1919A>C (p.Lys640Thr)
|
|
|
|
NM_005076.5(CNTN2):c.1921T>A (p.Tyr641Asn)
|
rs2151196059
|
|
|
NM_005076.5(CNTN2):c.1926C>T (p.Thr642=)
|
rs747563076
|
|
|
NM_005076.5(CNTN2):c.1937G>A (p.Arg646His)
|
rs780787184
|
|
|
NM_005076.5(CNTN2):c.1942C>G (p.Pro648Ala)
|
|
|
|
NM_005076.5(CNTN2):c.1949C>T (p.Ala650Val)
|
rs1398781322
|
|
|
NM_005076.5(CNTN2):c.1962G>A (p.Lys654=)
|
|
|
|
NM_005076.5(CNTN2):c.1963C>G (p.Gln655Glu)
|
rs1262628184
|
|
|
NM_005076.5(CNTN2):c.1964A>G (p.Gln655Arg)
|
|
|
|
NM_005076.5(CNTN2):c.1965G>A (p.Gln655=)
|
rs768447366
|
|
|
NM_005076.5(CNTN2):c.1969C>T (p.Arg657Trp)
|
rs2305276
|
|
|
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.1976-7C>G
|
rs773089407
|
|
|
NM_005076.5(CNTN2):c.1976A>T (p.Asn659Ile)
|
|
|
|
NM_005076.5(CNTN2):c.1987A>G (p.Ile663Val)
|
|
|
|
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.2026A>G (p.Thr676Ala)
|
rs1574655799
|
|
|
NM_005076.5(CNTN2):c.2032T>A (p.Trp678Arg)
|
rs1553347245
|
|
|
NM_005076.5(CNTN2):c.2040C>G (p.Asp680Glu)
|
|
|
|
NM_005076.5(CNTN2):c.2044G>C (p.Glu682Gln)
|
rs2151196614
|
|
|
NM_005076.5(CNTN2):c.2051G>A (p.Arg684Gln)
|
|
|
|
NM_005076.5(CNTN2):c.2052G>A (p.Arg684=)
|
|
|
|
NM_005076.5(CNTN2):c.2064C>T (p.Ser688=)
|
|
|
|
NM_005076.5(CNTN2):c.2067_2068del (p.Ile690fs)
|
|
|
|
NM_005076.5(CNTN2):c.2079T>C (p.Thr693=)
|
rs2151196632
|
|
|
NM_005076.5(CNTN2):c.2081_2099del (p.Gly694fs)
|
|
|
|
NM_005076.5(CNTN2):c.2108T>A (p.Ile703Asn)
|
rs2151196671
|
|
|
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.2126-1G>C
|
rs2151198133
|
|
|
NM_005076.5(CNTN2):c.2126C>G (p.Ala709Gly)
|
rs2151198136
|
|
|
NM_005076.5(CNTN2):c.2130C>T (p.Pro710=)
|
rs1009461344
|
|
|
NM_005076.5(CNTN2):c.2131T>G (p.Ser711Ala)
|
|
|
|
NM_005076.5(CNTN2):c.2136G>A (p.Val712=)
|
|
|
|
NM_005076.5(CNTN2):c.2149C>T (p.Leu717Phe)
|
rs970659488
|
|
|
NM_005076.5(CNTN2):c.215+11T>G
|
|
|
|
NM_005076.5(CNTN2):c.215+20T>G
|
|
|
|
NM_005076.5(CNTN2):c.215+6G>A
|
rs370377460
|
|
|
NM_005076.5(CNTN2):c.215+6G>T
|
|
|
|
NM_005076.5(CNTN2):c.215G>C (p.Arg72Pro)
|
|
|
|
NM_005076.5(CNTN2):c.216-18C>T
|
|
|
|
NM_005076.5(CNTN2):c.216-19C>T
|
|
|
|
NM_005076.5(CNTN2):c.2173G>A (p.Gly725Arg)
|
|
|
|
NM_005076.5(CNTN2):c.2184C>T (p.Ile728=)
|
|
|
|
NM_005076.5(CNTN2):c.2185G>A (p.Val729Ile)
|
|
|
|
NM_005076.5(CNTN2):c.2193G>A (p.Trp731Ter)
|
|
|
|
NM_005076.5(CNTN2):c.2193G>C (p.Trp731Cys)
|
rs1553347743
|
|
|
NM_005076.5(CNTN2):c.2196+42C>T
|
rs2305275
|
|
|
NM_005076.5(CNTN2):c.2196+7T>G
|
rs1654476200
|
|
|
NM_005076.5(CNTN2):c.2197-2A>G
|
|
|
|
NM_005076.5(CNTN2):c.2197-7C>T
|
|
|
|
NM_005076.5(CNTN2):c.2197-9G>C
|
|
|
|
NM_005076.5(CNTN2):c.2207G>A (p.Arg736Gln)
|
|
|
|
NM_005076.5(CNTN2):c.222G>A (p.Lys74=)
|
|
|
|
NM_005076.5(CNTN2):c.2241G>A (p.Leu747=)
|
|
|
|
NM_005076.5(CNTN2):c.2273_2274delinsAT (p.Trp758Tyr)
|
rs1064796187
|
|
|
NM_005076.5(CNTN2):c.2281G>A (p.Ala761Thr)
|
|
|
|
NM_005076.5(CNTN2):c.2285G>A (p.Arg762Gln)
|
|
|
|
NM_005076.5(CNTN2):c.2299G>A (p.Asp767Asn)
|
rs1654500986
|
|
|
NM_005076.5(CNTN2):c.2302G>C (p.Ala768Pro)
|
|
|
|
NM_005076.5(CNTN2):c.2304C>T (p.Ala768=)
|
|
|
|
NM_005076.5(CNTN2):c.2336G>A (p.Arg779Gln)
|
rs2151198576
|
|
|
NM_005076.5(CNTN2):c.2349C>T (p.Pro783=)
|
|
|
|
NM_005076.5(CNTN2):c.234C>T (p.Thr78=)
|
|
|
|
NM_005076.5(CNTN2):c.2356G>T (p.Val786Phe)
|
rs780226583
|
|
|
NM_005076.5(CNTN2):c.2394C>T (p.Pro798=)
|
|
|
|
NM_005076.5(CNTN2):c.240G>A (p.Met80Ile)
|
|
|
|
NM_005076.5(CNTN2):c.2412C>T (p.Leu804=)
|
rs753589096
|
|
|
NM_005076.5(CNTN2):c.2431+18_2431+19insA
|
|
|
|
NM_005076.5(CNTN2):c.2431+4G>A
|
rs2151198657
|
|
|
NM_005076.5(CNTN2):c.2431+5G>A
|
rs1380526589
|
|
|
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.2483A>G (p.Glu828Gly)
|
rs1574660291
|
|
|
NM_005076.5(CNTN2):c.2491G>A (p.Val831Met)
|
|
|
|
NM_005076.5(CNTN2):c.2496C>T (p.Thr832=)
|
|
|
|
NM_005076.5(CNTN2):c.2506G>A (p.Val836Met)
|
rs775217770
|
|
|
NM_005076.5(CNTN2):c.2509C>A (p.Gln837Lys)
|
|
|
|
NM_005076.5(CNTN2):c.2513A>C (p.Gln838Pro)
|
rs1654537849
|
|
|
NM_005076.5(CNTN2):c.2514G>C (p.Gln838His)
|
rs144293383
|
|
|
NM_005076.5(CNTN2):c.2515G>A (p.Asp839Asn)
|
|
|
|
NM_005076.5(CNTN2):c.2517C>T (p.Asp839=)
|
rs1654538290
|
|
|
NM_005076.5(CNTN2):c.2540A>G (p.Tyr847Cys)
|
|
|
|
NM_005076.5(CNTN2):c.2544+14T>G
|
|
|
|
NM_005076.5(CNTN2):c.2544+1G>T
|
|
|
|
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.2587C>T (p.Arg863Ter)
|
rs531184069
|
|
|
NM_005076.5(CNTN2):c.2589A>G (p.Arg863=)
|
rs1452001260
|
|
|
NM_005076.5(CNTN2):c.260G>A (p.Arg87His)
|
|
|
|
NM_005076.5(CNTN2):c.2645C>T (p.Thr882Ile)
|
|
|
|
NM_005076.5(CNTN2):c.2655T>G (p.His885Gln)
|
rs759745695
|
|
|
NM_005076.5(CNTN2):c.2660C>T (p.Thr887Ile)
|
|
|
|
NM_005076.5(CNTN2):c.2668G>A (p.Ala890Thr)
|
rs2151200043
|
|
|
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.2685C>T (p.Gly895=)
|
rs750919252
|
|
|
NM_005076.5(CNTN2):c.2688T>A (p.Thr896=)
|
rs375780610
|
|
|
NM_005076.5(CNTN2):c.2696C>A (p.Ala899Asp)
|
|
|
|
NM_005076.5(CNTN2):c.2697dup (p.Ser900fs)
|
rs2151200083
|
|
|
NM_005076.5(CNTN2):c.2701C>T (p.Pro901Ser)
|
rs2151200097
|
|
|
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.2731+19G>T
|
rs2151200154
|
|
|
NM_005076.5(CNTN2):c.2731+1G>A
|
rs1202358073
|
|
|
NM_005076.5(CNTN2):c.2732-12C>T
|
|
|
|
NM_005076.5(CNTN2):c.2735C>T (p.Pro912Leu)
|
rs777653447
|
|
|
NM_005076.5(CNTN2):c.273G>C (p.Val91=)
|
|
|
|
NM_005076.5(CNTN2):c.273G>T (p.Val91=)
|
|
|
|
NM_005076.5(CNTN2):c.2740C>T (p.Arg914Ter)
|
rs768608238
|
|
|
NM_005076.5(CNTN2):c.274G>C (p.Gly92Arg)
|
|
|
|
NM_005076.5(CNTN2):c.2750G>C (p.Gly917Ala)
|
|
|
|
NM_005076.5(CNTN2):c.2773del (p.Ser925fs)
|
rs2151200415
|
|
|
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.2834C>A (p.Thr945Asn)
|
|
|
|
NM_005076.5(CNTN2):c.2835C>A (p.Thr945=)
|
|
|
|
NM_005076.5(CNTN2):c.283C>T (p.Leu95=)
|
rs2151189280
|
|
|
NM_005076.5(CNTN2):c.2845-3C>T
|
|
|
|
NM_005076.5(CNTN2):c.2861A>G (p.Asp954Gly)
|
rs767209651
|
|
|
NM_005076.5(CNTN2):c.2886C>G (p.His962Gln)
|
rs56111335
|
|
|
NM_005076.5(CNTN2):c.2886C>T (p.His962=)
|
rs56111335
|
|
|
NM_005076.5(CNTN2):c.2892C>T (p.Thr964=)
|
|
|
|
NM_005076.5(CNTN2):c.2905A>G (p.Ile969Val)
|
|
|
|
NM_005076.5(CNTN2):c.2923G>A (p.Glu975Lys)
|
rs1654681238
|
|
|
NM_005076.5(CNTN2):c.2926G>A (p.Asp976Asn)
|
|
|
|
NM_005076.5(CNTN2):c.2933G>C (p.Gly978Ala)
|
rs1654682070
|
|
|
NM_005076.5(CNTN2):c.2944G>A (p.Val982Ile)
|
rs761355817
|
|
|
NM_005076.5(CNTN2):c.2954G>A (p.Arg985Gln)
|
rs1348228431
|
|
|
NM_005076.5(CNTN2):c.2966C>T (p.Pro989Leu)
|
rs1193731341
|
|
|
NM_005076.5(CNTN2):c.2967C>T (p.Pro989=)
|
|
|
|
NM_005076.5(CNTN2):c.2979G>A (p.Gly993=)
|
|
|
|
NM_005076.5(CNTN2):c.2983C>T (p.Pro995Ser)
|
rs1654685363
|
|
|
NM_005076.5(CNTN2):c.2988A>G (p.Ala996=)
|
|
|
|
NM_005076.5(CNTN2):c.298C>T (p.Pro100Ser)
|
rs1350606305
|
|
|
NM_005076.5(CNTN2):c.3000C>A (p.Ile1000=)
|
rs947096199
|
|
|
NM_005076.5(CNTN2):c.3000C>T (p.Ile1000=)
|
|
|
|
NM_005076.5(CNTN2):c.3011G>A (p.Gly1004Glu)
|
rs1364145938
|
|
|
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.3013+1G>A
|
|
|
|
NM_005076.5(CNTN2):c.3013+4C>G
|
rs1654687741
|
|
|
NM_005076.5(CNTN2):c.3013+6_3013+8del
|
rs752153648
|
|
|
NM_005076.5(CNTN2):c.3014-13G>C
|
|
|
|
NM_005076.5(CNTN2):c.3014-17G>A
|
|
|
|
NM_005076.5(CNTN2):c.3039G>A (p.Met1013Ile)
|
|
|
|
NM_005076.5(CNTN2):c.3042A>T (p.Ala1014=)
|
|
|
|
NM_005076.5(CNTN2):c.3046C>T (p.Arg1016Cys)
|
|
|
|
NM_005076.5(CNTN2):c.3050C>T (p.Pro1017Leu)
|
rs757311639
|
|
|
NM_005076.5(CNTN2):c.305A>C (p.Lys102Thr)
|
rs1359784884
|
|
|
NM_005076.5(CNTN2):c.3066C>T (p.Gly1022=)
|
rs975151766
|
|
|
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.308C>T (p.Ala103Val)
|
|
|
|
NM_005076.5(CNTN2):c.3094C>G (p.Leu1032Val)
|
|
|
|
NM_005076.5(CNTN2):c.3099C>T (p.Ile1033=)
|
rs368955126
|
|
|
NM_005076.5(CNTN2):c.3108C>T (p.Gly1036=)
|
|
|
|
NM_005076.5(CNTN2):c.3117G>C (p.Glu1039Asp)
|
rs1232718150
|
|
|
NM_005076.5(CNTN2):c.3123A>G (p.Ter1041Trp)
|
rs2151201303
|
|
|
NM_005076.5(CNTN2):c.317C>G (p.Ala106Gly)
|
|
|
|
NM_005076.5(CNTN2):c.318C>G (p.Ala106=)
|
rs372422500
|
|
|
NM_005076.5(CNTN2):c.31C>G (p.Leu11Val)
|
rs2096455937
|
|
|
NM_005076.5(CNTN2):c.325T>G (p.Tyr109Asp)
|
rs1653771144
|
|
|
NM_005076.5(CNTN2):c.337G>C (p.Ala113Pro)
|
rs1032446046
|
|
|
NM_005076.5(CNTN2):c.342C>T (p.Ser114=)
|
|
|
|
NM_005076.5(CNTN2):c.351G>A (p.Val117=)
|
rs2151189366
|
|
|
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.418C>T (p.Arg140Ter)
|
|
|
|
NM_005076.5(CNTN2):c.427G>T (p.Val143Leu)
|
rs2151189641
|
|
|
NM_005076.5(CNTN2):c.476C>T (p.Ala159Val)
|
rs1653796008
|
|
|
NM_005076.5(CNTN2):c.478C>A (p.His160Asn)
|
rs2151189694
|
|
|
NM_005076.5(CNTN2):c.479A>T (p.His160Leu)
|
rs1327945426
|
|
|
NM_005076.5(CNTN2):c.487+12C>G
|
|
|
|
NM_005076.5(CNTN2):c.487+18del
|
|
|
|
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.49G>A (p.Val17Met)
|
rs1290934625
|
|
|
NM_005076.5(CNTN2):c.504del (p.Trp168fs)
|
rs398122387
|
|
|
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.533C>T (p.Pro178Leu)
|
|
|
|
NM_005076.5(CNTN2):c.534G>C (p.Pro178=)
|
rs151020999
|
|
|
NM_005076.5(CNTN2):c.537G>A (p.Thr179=)
|
|
|
|
NM_005076.5(CNTN2):c.540C>T (p.Asp180=)
|
|
|
|
NM_005076.5(CNTN2):c.543G>C (p.Gly181=)
|
rs145237574
|
|
|
NM_005076.5(CNTN2):c.553G>A (p.Val185Met)
|
rs866000513
|
|
|
NM_005076.5(CNTN2):c.555G>C (p.Val185=)
|
rs2151190097
|
|
|
NM_005076.5(CNTN2):c.57T>C (p.Leu19=)
|
|
|
|
NM_005076.5(CNTN2):c.584C>T (p.Ala195Val)
|
rs2151190134
|
|
|
NM_005076.5(CNTN2):c.586C>T (p.Arg196Ter)
|
rs537026414
|
|
|
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.619T>C (p.Cys207Arg)
|
rs2151190177
|
|
|
NM_005076.5(CNTN2):c.635A>T (p.His212Leu)
|
rs1558542528
|
|
|
NM_005076.5(CNTN2):c.636C>T (p.His212=)
|
|
|
|
NM_005076.5(CNTN2):c.654G>C (p.Lys218Asn)
|
rs1653835996
|
|
|
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.697+18G>T
|
rs872379
|
|
|
NM_005076.5(CNTN2):c.698-13C>A
|
|
|
|
NM_005076.5(CNTN2):c.698-14C>T
|
|
|
|
NM_005076.5(CNTN2):c.69A>G (p.Ser23=)
|
|
|
|
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.723C>G (p.Ile241Met)
|
rs1653860952
|
|
|
NM_005076.5(CNTN2):c.736C>A (p.Pro246Thr)
|
rs2151190542
|
|
|
NM_005076.5(CNTN2):c.744G>A (p.Glu248=)
|
|
|
|
NM_005076.5(CNTN2):c.745A>G (p.Thr249Ala)
|
rs1191773782
|
|
|
NM_005076.5(CNTN2):c.756G>A (p.Leu252=)
|
|
|
|
NM_005076.5(CNTN2):c.762G>C (p.Gly254=)
|
rs1653864841
|
|
|
NM_005076.5(CNTN2):c.766C>T (p.Gln256Ter)
|
|
|
|
NM_005076.5(CNTN2):c.777G>A (p.Leu259=)
|
|
|
|
NM_005076.5(CNTN2):c.787G>A (p.Ala263Thr)
|
|
|
|
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+16dup
|
rs5780262
|
|
|
NM_005076.5(CNTN2):c.797+18G>A
|
|
|
|
NM_005076.5(CNTN2):c.798-6T>C
|
|
|
|
NM_005076.5(CNTN2):c.798C>T (p.Asn266=)
|
|
|
|
NM_005076.5(CNTN2):c.809G>A (p.Arg270Gln)
|
|
|
|
NM_005076.5(CNTN2):c.816G>A (p.Lys272=)
|
|
|
|
NM_005076.5(CNTN2):c.820C>T (p.Arg274Cys)
|
rs1473353987
|
|
|
NM_005076.5(CNTN2):c.832G>A (p.Gly278Ser)
|
|
|
|
NM_005076.5(CNTN2):c.835T>A (p.Ser279Thr)
|
rs2151191847
|
|
|
NM_005076.5(CNTN2):c.849G>C (p.Gln283His)
|
|
|
|
NM_005076.5(CNTN2):c.851G>A (p.Trp284Ter)
|
|
|
|
NM_005076.5(CNTN2):c.855C>A (p.Thr285=)
|
|
|
|
NM_005076.5(CNTN2):c.859G>A (p.Ala287Thr)
|
rs1653966883
|
|
|
NM_005076.5(CNTN2):c.85C>G (p.Leu29Val)
|
|
|
|
NM_005076.5(CNTN2):c.862G>A (p.Glu288Lys)
|
|
|
|
NM_005076.5(CNTN2):c.885C>A (p.Ser295Arg)
|
|
|
|
NM_005076.5(CNTN2):c.886G>C (p.Val296Leu)
|
|
|
|
NM_005076.5(CNTN2):c.8C>A (p.Thr3Lys)
|
|
|
|
NM_005076.5(CNTN2):c.900T>C (p.Asp300=)
|
|
|
|
NM_005076.5(CNTN2):c.910T>C (p.Tyr304His)
|
|
|
|
NM_005076.5(CNTN2):c.913G>C (p.Glu305Gln)
|
rs143449488
|
|
|
NM_005076.5(CNTN2):c.931T>C (p.Ser311Pro)
|
rs1064794428
|
|
|
NM_005076.5(CNTN2):c.934A>G (p.Lys312Glu)
|
|
|
|
NM_005076.5(CNTN2):c.948C>A (p.Thr316=)
|
rs542983417
|
|
|
NM_005076.5(CNTN2):c.948C>T (p.Thr316=)
|
|
|
|
NM_005076.5(CNTN2):c.954G>C (p.Gln318His)
|
|
|
|
NM_005076.5(CNTN2):c.967G>C (p.Val323Leu)
|
|
|
|
NM_005076.5(CNTN2):c.973+13G>C
|
rs2151192001
|
|
|
NM_005076.5(CNTN2):c.974-12G>A
|
rs201080048
|
|
|
NM_005076.5(CNTN2):c.974-13C>T
|
|
|
|
NM_005076.5(CNTN2):c.992A>T (p.Lys331Ile)
|
rs1175397570
|
|
|
NM_005076.5(CNTN2):c.99C>T (p.Thr33=)
|
|
|
|
NM_005097.3(LGI1):c.-280G>C
|
rs74150339
|
|
|
NM_005097.4(LGI1):c.*338G>C
|
rs182654305
|
|
|
NM_005097.4(LGI1):c.-66G>C
|
rs886047485
|
|
|
NM_005097.4(LGI1):c.1003A>G (p.Ile335Val)
|
rs2134026335
|
|
|
NM_005097.4(LGI1):c.1011A>C (p.Thr337=)
|
|
|
|
NM_005097.4(LGI1):c.1013T>C (p.Phe338Ser)
|
rs869025201
|
|
|
NM_005097.4(LGI1):c.1026C>G (p.Asn342Lys)
|
rs1554907730
|
|
|
NM_005097.4(LGI1):c.1052G>T (p.Ser351Ile)
|
rs2134026390
|
|
|
NM_005097.4(LGI1):c.1057A>C (p.Lys353Gln)
|
rs2059987771
|
|
|
NM_005097.4(LGI1):c.1064G>C (p.Gly355Ala)
|
|
|
|
NM_005097.4(LGI1):c.1066T>C (p.Phe356Leu)
|
|
|
|
NM_005097.4(LGI1):c.1081A>C (p.Lys361Gln)
|
rs141334842
|
|
|
NM_005097.4(LGI1):c.1083A>G (p.Lys361=)
|
rs1337328821
|
|
|
NM_005097.4(LGI1):c.1089C>T (p.Asn363=)
|
|
|
|
NM_005097.4(LGI1):c.108del (p.Lys36fs)
|
rs2133975489
|
|
|
NM_005097.4(LGI1):c.1095del (p.Asn365fs)
|
rs2134026453
|
|
|
NM_005097.4(LGI1):c.1097G>C (p.Gly366Ala)
|
rs2059988287
|
|
|
NM_005097.4(LGI1):c.1104C>A (p.Tyr368Ter)
|
|
|
|
NM_005097.4(LGI1):c.1112A>G (p.Gln371Arg)
|
rs2059988505
|
|
|
NM_005097.4(LGI1):c.1118T>A (p.Leu373Ter)
|
rs2134026513
|
|
|
NM_005097.4(LGI1):c.1125G>A (p.Ala375=)
|
|
|
|
NM_005097.4(LGI1):c.1125G>C (p.Ala375=)
|
rs886047487
|
|
|
NM_005097.4(LGI1):c.1128G>A (p.Trp376Ter)
|
rs1060502053
|
|
|
NM_005097.4(LGI1):c.1148A>C (p.Glu383Ala)
|
rs28937874
|
|
|
NM_005097.4(LGI1):c.1158_1168dup (p.Thr390delinsLysTer)
|
rs1554907767
|
|
|
NM_005097.4(LGI1):c.1171C>T (p.Pro391Ser)
|
|
|
|
NM_005097.4(LGI1):c.1172C>T (p.Pro391Leu)
|
|
|
|
NM_005097.4(LGI1):c.1176G>C (p.Gln392His)
|
|
|
|
NM_005097.4(LGI1):c.1185A>G (p.Arg395=)
|
|
|
|
NM_005097.4(LGI1):c.1187C>T (p.Thr396Met)
|
rs905576558
|
|
|
NM_005097.4(LGI1):c.1188G>A (p.Thr396=)
|
|
|
|
NM_005097.4(LGI1):c.1188G>T (p.Thr396=)
|
rs545650972
|
|
|
NM_005097.4(LGI1):c.1190C>T (p.Pro397Leu)
|
rs2134026607
|
|
|
NM_005097.4(LGI1):c.1206T>C (p.Ser402=)
|
|
|
|
NM_005097.4(LGI1):c.1219C>G (p.Arg407Gly)
|
rs759897282
|
|
|
NM_005097.4(LGI1):c.1219C>T (p.Arg407Cys)
|
|
|
|
NM_005097.4(LGI1):c.122A>G (p.Lys41Arg)
|
rs2059585290
|
|
|
NM_005097.4(LGI1):c.1242C>T (p.Asn414=)
|
|
|
|
NM_005097.4(LGI1):c.1245A>G (p.Lys415=)
|
|
|
|
NM_005097.4(LGI1):c.124T>C (p.Cys42Arg)
|
rs797044996
|
|
|
NM_005097.4(LGI1):c.124T>G (p.Cys42Gly)
|
rs797044996
|
|
|
NM_005097.4(LGI1):c.1252C>T (p.Gln418Ter)
|
rs2134026684
|
|
|
NM_005097.4(LGI1):c.1256T>G (p.Leu419Ter)
|
rs1554907787
|
|
|
NM_005097.4(LGI1):c.126C>T (p.Cys42=)
|
|
|
|
NM_005097.4(LGI1):c.1279C>A (p.Pro427Thr)
|
rs2134026723
|
|
|
NM_005097.4(LGI1):c.1283A>G (p.Asn428Ser)
|
rs1589775967
|
|
|
NM_005097.4(LGI1):c.1296G>A (p.Val432=)
|
|
|
|
NM_005097.4(LGI1):c.1300G>A (p.Ala434Thr)
|
rs758287710
|
|
|
NM_005097.4(LGI1):c.1302A>G (p.Ala434=)
|
|
|
|
NM_005097.4(LGI1):c.1306A>G (p.Lys436Glu)
|
rs2134026771
|
|
|
NM_005097.4(LGI1):c.1319T>C (p.Val440Ala)
|
|
|
|
NM_005097.4(LGI1):c.1325G>A (p.Gly442Glu)
|
|
|
|
NM_005097.4(LGI1):c.1336A>G (p.Ile446Val)
|
|
|
|
NM_005097.4(LGI1):c.1347A>G (p.Thr449=)
|
|
|
|
NM_005097.4(LGI1):c.1365C>T (p.Ser455=)
|
rs762002155
|
|
|
NM_005097.4(LGI1):c.1369G>A (p.Val457Ile)
|
rs2134026868
|
|
|
NM_005097.4(LGI1):c.136T>C (p.Cys46Arg)
|
rs104894166
|
|
|
NM_005097.4(LGI1):c.1370T>C (p.Val457Ala)
|
rs1554907821
|
|
|
NM_005097.4(LGI1):c.1373T>C (p.Met458Thr)
|
|
|
|
NM_005097.4(LGI1):c.1381G>A (p.Gly461Arg)
|
|
|
|
NM_005097.4(LGI1):c.1388C>T (p.Ser463Phe)
|
|
|
|
NM_005097.4(LGI1):c.1396C>A (p.Gln466Lys)
|
|
|
|
NM_005097.4(LGI1):c.1396C>T (p.Gln466Ter)
|
|
|
|
NM_005097.4(LGI1):c.1403T>C (p.Ile468Thr)
|
|
|
|
NM_005097.4(LGI1):c.1418C>T (p.Ser473Leu)
|
rs797044999
|
|
|
NM_005097.4(LGI1):c.1419G>A (p.Ser473=)
|
rs1040194336
|
|
|
NM_005097.4(LGI1):c.1419G>T (p.Ser473=)
|
|
|
|
NM_005097.4(LGI1):c.1420C>T (p.Arg474Ter)
|
rs797044998
|
|
|
NM_005097.4(LGI1):c.1421G>A (p.Arg474Gln)
|
rs1064794249
|
|
|
NM_005097.4(LGI1):c.1428C>A (p.Ser476=)
|
|
|
|
NM_005097.4(LGI1):c.1432G>A (p.Val478Met)
|
|
|
|
NM_005097.4(LGI1):c.1433T>C (p.Val478Ala)
|
|
|
|
NM_005097.4(LGI1):c.1434G>A (p.Val478=)
|
|
|
|
NM_005097.4(LGI1):c.1434G>T (p.Val478=)
|
rs993421984
|
|
|
NM_005097.4(LGI1):c.1439_1442del (p.Gln480fs)
|
rs1554907835
|
|
|
NM_005097.4(LGI1):c.143G>A (p.Cys48Tyr)
|
rs1554901937
|
|
|
NM_005097.4(LGI1):c.1442del (p.Pro481fs)
|
rs2134026964
|
|
|
NM_005097.4(LGI1):c.1465del (p.Tyr489fs)
|
rs1589776148
|
|
|
NM_005097.4(LGI1):c.1467T>C (p.Tyr489=)
|
|
|
|
NM_005097.4(LGI1):c.1474C>T (p.Leu492Phe)
|
|
|
|
NM_005097.4(LGI1):c.1487A>T (p.Tyr496Phe)
|
rs2134027009
|
|
|
NM_005097.4(LGI1):c.1503G>A (p.Val501=)
|
rs1431473977
|
|
|
NM_005097.4(LGI1):c.1515T>C (p.Asp505=)
|
|
|
|
NM_005097.4(LGI1):c.1517C>A (p.Ala506Glu)
|
rs1458989376
|
|
|
NM_005097.4(LGI1):c.1525G>A (p.Ala509Thr)
|
|
|
|
NM_005097.4(LGI1):c.153T>C (p.Asp51=)
|
|
|
|
NM_005097.4(LGI1):c.1549T>A (p.Leu517Ile)
|
rs2059992788
|
|
|
NM_005097.4(LGI1):c.154A>G (p.Asn52Asp)
|
rs1216831495
|
|
|
NM_005097.4(LGI1):c.1552A>G (p.Asn518Asp)
|
rs887433567
|
|
|
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.1580A>G (p.His527Arg)
|
rs2059993019
|
|
|
NM_005097.4(LGI1):c.1580_1581del (p.His527fs)
|
rs1364913665
|
|
|
NM_005097.4(LGI1):c.1581T>C (p.His527=)
|
|
|
|
NM_005097.4(LGI1):c.1586C>T (p.Ser529Phe)
|
|
|
|
NM_005097.4(LGI1):c.1597C>T (p.Arg533Cys)
|
rs771178397
|
|
|
NM_005097.4(LGI1):c.1599T>C (p.Arg533=)
|
rs2134027164
|
|
|
NM_005097.4(LGI1):c.1599dup (p.Asn534Ter)
|
rs2134027169
|
|
|
NM_005097.4(LGI1):c.1611T>G (p.Phe537Leu)
|
rs934608672
|
|
|
NM_005097.4(LGI1):c.1614T>C (p.Ala538=)
|
rs2134027174
|
|
|
NM_005097.4(LGI1):c.1630A>G (p.Asn544Asp)
|
|
|
|
NM_005097.4(LGI1):c.163T>C (p.Cys55Arg)
|
|
|
|
NM_005097.4(LGI1):c.1650T>C (p.His550=)
|
rs563455611
|
|
|
NM_005097.4(LGI1):c.1652T>C (p.Val551Ala)
|
rs752672428
|
|
|
NM_005097.4(LGI1):c.1667G>A (p.Ser556Asn)
|
|
|
|
NM_005097.4(LGI1):c.187del (p.Arg63fs)
|
|
|
|
NM_005097.4(LGI1):c.191C>G (p.Thr64Ser)
|
rs373616721
|
|
|
NM_005097.4(LGI1):c.196C>G (p.Pro66Ala)
|
|
|
|
NM_005097.4(LGI1):c.198T>A (p.Pro66=)
|
rs2133975621
|
|
|
NM_005097.4(LGI1):c.206T>C (p.Val69Ala)
|
|
|
|
NM_005097.4(LGI1):c.215+2T>A
|
rs2059586444
|
|
|
NM_005097.4(LGI1):c.215+7C>T
|
rs1589747145
|
|
|
NM_005097.4(LGI1):c.216-12G>A
|
|
|
|
NM_005097.4(LGI1):c.216-3C>T
|
rs1461103422
|
|
|
NM_005097.4(LGI1):c.219C>G (p.Ser73=)
|
|
|
|
NM_005097.4(LGI1):c.221T>C (p.Phe74Ser)
|
|
|
|
NM_005097.4(LGI1):c.246C>A (p.Ile82=)
|
|
|
|
NM_005097.4(LGI1):c.248C>T (p.Ser83Leu)
|
rs1279436195
|
|
|
NM_005097.4(LGI1):c.253G>A (p.Gly85Arg)
|
rs2133976199
|
|
|
NM_005097.4(LGI1):c.254G>A (p.Gly85Glu)
|
rs2059592627
|
|
|
NM_005097.4(LGI1):c.272C>T (p.Pro91Leu)
|
rs796052693
|
|
|
NM_005097.4(LGI1):c.277C>T (p.Leu93=)
|
rs1320446814
|
|
|
NM_005097.4(LGI1):c.287+19A>G
|
|
|
|
NM_005097.4(LGI1):c.287+1G>A
|
rs2059593242
|
|
|
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.308T>C (p.Phe103Ser)
|
rs2059804388
|
|
|
NM_005097.4(LGI1):c.309T>C (p.Phe103=)
|
rs878934761
|
|
|
NM_005097.4(LGI1):c.313G>A (p.Val105Met)
|
|
|
|
NM_005097.4(LGI1):c.329C>T (p.Ala110Val)
|
|
|
|
NM_005097.4(LGI1):c.342T>G (p.Leu114=)
|
|
|
|
NM_005097.4(LGI1):c.358T>G (p.Leu120Val)
|
rs796052697
|
|
|
NM_005097.4(LGI1):c.359+14del
|
|
|
|
NM_005097.4(LGI1):c.359+15T>A
|
|
|
|
NM_005097.4(LGI1):c.359+7A>C
|
|
|
|
NM_005097.4(LGI1):c.360-13T>C
|
rs2134001315
|
|
|
NM_005097.4(LGI1):c.360-19A>G
|
|
|
|
NM_005097.4(LGI1):c.360-3C>A
|
rs1589762127
|
|
|
NM_005097.4(LGI1):c.361T>A (p.Phe121Ile)
|
|
|
|
NM_005097.4(LGI1):c.365T>A (p.Ile122Lys)
|
rs119488100
|
|
|
NM_005097.4(LGI1):c.374A>G (p.Asn125Ser)
|
|
|
|
NM_005097.4(LGI1):c.386C>G (p.Ser129Ter)
|
rs1564845068
|
|
|
NM_005097.4(LGI1):c.397C>T (p.His133Tyr)
|
|
|
|
NM_005097.4(LGI1):c.401C>T (p.Thr134Ile)
|
rs2059806034
|
|
|
NM_005097.4(LGI1):c.414A>G (p.Leu138=)
|
|
|
|
NM_005097.4(LGI1):c.416del (p.Lys139fs)
|
|
|
|
NM_005097.4(LGI1):c.431+1G>A
|
rs2134001459
|
|
|
NM_005097.4(LGI1):c.431+5G>A
|
rs2134001469
|
|
|
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.432-3dup
|
rs1554906720
|
|
|
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.432-5dup
|
rs61662431
|
|
|
NM_005097.4(LGI1):c.432-6_432-5dup
|
rs61662431
|
|
|
NM_005097.4(LGI1):c.432-6_432-5insAT
|
rs761154452
|
|
|
NM_005097.4(LGI1):c.432G>T (p.Leu144Phe)
|
rs920223409
|
|
|
NM_005097.4(LGI1):c.438T>G (p.Leu146=)
|
|
|
|
NM_005097.4(LGI1):c.443dup (p.Asn148fs)
|
rs2134017940
|
|
|
NM_005097.4(LGI1):c.446_449del (p.Asn149fs)
|
rs2134017952
|
|
|
NM_005097.4(LGI1):c.44C>G (p.Pro15Arg)
|
|
|
|
NM_005097.4(LGI1):c.460C>A (p.Leu154Ile)
|
rs2059923858
|
|
|
NM_005097.4(LGI1):c.464C>T (p.Pro155Leu)
|
rs1589771117
|
|
|
NM_005097.4(LGI1):c.47T>G (p.Leu16Arg)
|
rs1234339369
|
|
|
NM_005097.4(LGI1):c.483C>A (p.Gly161=)
|
rs1014154783
|
|
|
NM_005097.4(LGI1):c.484C>T (p.Leu162=)
|
|
|
|
NM_005097.4(LGI1):c.496A>C (p.Thr166Pro)
|
|
|
|
NM_005097.4(LGI1):c.498A>C (p.Thr166=)
|
rs1057523247
|
|
|
NM_005097.4(LGI1):c.4G>T (p.Glu2Ter)
|
rs2059583625
|
|
|
NM_005097.4(LGI1):c.503+15G>T
|
|
|
|
NM_005097.4(LGI1):c.504-1G>T
|
rs1564851314
|
|
|
NM_005097.4(LGI1):c.504-9G>A
|
rs2059947219
|
|
|
NM_005097.4(LGI1):c.504-9_505del
|
rs2134020777
|
|
|
NM_005097.4(LGI1):c.510G>A (p.Leu170=)
|
|
|
|
NM_005097.4(LGI1):c.512G>C (p.Arg171Thr)
|
rs2134020795
|
|
|
NM_005097.4(LGI1):c.525T>C (p.Phe175=)
|
|
|
|
NM_005097.4(LGI1):c.553G>A (p.Val185Met)
|
rs1235699165
|
|
|
NM_005097.4(LGI1):c.55A>G (p.Ile19Val)
|
rs2059584229
|
|
|
NM_005097.4(LGI1):c.568C>T (p.His190Tyr)
|
rs1345126535
|
|
|
NM_005097.4(LGI1):c.572C>A (p.Thr191Asn)
|
|
|
|
NM_005097.4(LGI1):c.58G>A (p.Ala20Thr)
|
rs2059584327
|
|
|
NM_005097.4(LGI1):c.593T>C (p.Ile198Thr)
|
rs2134020872
|
|
|
NM_005097.4(LGI1):c.598del (p.Cys200fs)
|
|
|
|
NM_005097.4(LGI1):c.600C>A (p.Cys200Ter)
|
|
|
|
NM_005097.4(LGI1):c.601G>A (p.Glu201Lys)
|
rs2134020895
|
|
|
NM_005097.4(LGI1):c.611del (p.Pro204fs)
|
|
|
|
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.624G>T (p.Lys208Asn)
|
rs2059948178
|
|
|
NM_005097.4(LGI1):c.634A>G (p.Asn212Asp)
|
rs757629755
|
|
|
NM_005097.4(LGI1):c.639T>A (p.Ser213Arg)
|
|
|
|
NM_005097.4(LGI1):c.64T>A (p.Phe22Ile)
|
rs2133975421
|
|
|
NM_005097.4(LGI1):c.657_658delinsCC (p.Asp220His)
|
rs2134021029
|
|
|
NM_005097.4(LGI1):c.657_658inv (p.Asp220Asn)
|
|
|
|
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.674-16T>G
|
|
|
|
NM_005097.4(LGI1):c.674-18T>G
|
|
|
|
NM_005097.4(LGI1):c.674-5dup
|
rs1467827240
|
|
|
NM_005097.4(LGI1):c.682_683del (p.Lys228fs)
|
|
|
|
NM_005097.4(LGI1):c.687T>G (p.Ser229=)
|
|
|
|
NM_005097.4(LGI1):c.688C>G (p.Gln230Glu)
|
|
|
|
NM_005097.4(LGI1):c.688C>T (p.Gln230Ter)
|
rs1060502054
|
|
|
NM_005097.4(LGI1):c.691G>T (p.Asp231Tyr)
|
|
|
|
NM_005097.4(LGI1):c.695T>C (p.Leu232Pro)
|
rs104894167
|
|
|
NM_005097.4(LGI1):c.701_702dup (p.Gln235fs)
|
|
|
|
NM_005097.4(LGI1):c.705A>G (p.Gln235=)
|
rs2059951017
|
|
|
NM_005097.4(LGI1):c.716T>C (p.Ile239Thr)
|
|
|
|
NM_005097.4(LGI1):c.720C>A (p.Asp240Glu)
|
rs2059951179
|
|
|
NM_005097.4(LGI1):c.726T>G (p.Phe242Leu)
|
rs2059951247
|
|
|
NM_005097.4(LGI1):c.73C>T (p.Leu25Phe)
|
|
|
|
NM_005097.4(LGI1):c.741T>C (p.Asp247=)
|
|
|
|
NM_005097.4(LGI1):c.742_743delinsAT (p.Glu248Met)
|
|
|
|
NM_005097.4(LGI1):c.747T>C (p.Tyr249=)
|
|
|
|
NM_005097.4(LGI1):c.749T>G (p.Val250Gly)
|
|
|
|
NM_005097.4(LGI1):c.757G>T (p.Ala253Ser)
|
|
|
|
NM_005097.4(LGI1):c.758C>T (p.Ala253Val)
|
|
|
|
NM_005097.4(LGI1):c.758del (p.Ala253fs)
|
rs797044997
|
|
|
NM_005097.4(LGI1):c.75C>G (p.Leu25=)
|
|
|
|
NM_005097.4(LGI1):c.771T>C (p.Thr257=)
|
|
|
|
NM_005097.4(LGI1):c.790G>C (p.Glu264Gln)
|
|
|
|
NM_005097.4(LGI1):c.795G>A (p.Trp265Ter)
|
rs2134021516
|
|
|
NM_005097.4(LGI1):c.817C>T (p.Arg273Trp)
|
rs760376686
|
|
|
NM_005097.4(LGI1):c.818G>A (p.Arg273Gln)
|
rs750249658
|
|
|
NM_005097.4(LGI1):c.821A>G (p.Asn274Ser)
|
|
|
|
NM_005097.4(LGI1):c.827ACA[1] (p.Asn277del)
|
|
|
|
NM_005097.4(LGI1):c.828C>G (p.Asp276Glu)
|
|
|
|
NM_005097.4(LGI1):c.835A>G (p.Thr279Ala)
|
rs752003436
|
|
|
NM_005097.4(LGI1):c.838+11C>T
|
rs886047486
|
|
|
NM_005097.4(LGI1):c.838+18A>C
|
rs1435969066
|
|
|
NM_005097.4(LGI1):c.838+3A>G
|
rs781205119
|
|
|
NM_005097.4(LGI1):c.839-17C>G
|
|
|
|
NM_005097.4(LGI1):c.83C>T (p.Ala28Val)
|
|
|
|
NM_005097.4(LGI1):c.84G>T (p.Ala28=)
|
rs2133975468
|
|
|
NM_005097.4(LGI1):c.853G>A (p.Val285Ile)
|
rs944813713
|
|
|
NM_005097.4(LGI1):c.853G>C (p.Val285Leu)
|
rs944813713
|
|
|
NM_005097.4(LGI1):c.862C>T (p.Pro288Ser)
|
rs2059985791
|
|
|
NM_005097.4(LGI1):c.865A>G (p.Ile289Val)
|
|
|
|
NM_005097.4(LGI1):c.882G>A (p.Gln294=)
|
rs1554907709
|
|
|
NM_005097.4(LGI1):c.882G>C (p.Gln294His)
|
|
|
|
NM_005097.4(LGI1):c.907T>C (p.Phe303Leu)
|
|
|
|
NM_005097.4(LGI1):c.90G>C (p.Leu30Phe)
|
rs1178032111
|
|
|
NM_005097.4(LGI1):c.913G>A (p.Gly305Ser)
|
|
|
|
NM_005097.4(LGI1):c.924C>T (p.Ile308=)
|
rs2134026230
|
|
|
NM_005097.4(LGI1):c.932G>A (p.Arg311Gln)
|
|
|
|
NM_005097.4(LGI1):c.941T>A (p.Phe314Tyr)
|
rs2134026264
|
|
|
NM_005097.4(LGI1):c.942T>C (p.Phe314=)
|
rs2134026268
|
|
|
NM_005097.4(LGI1):c.953T>G (p.Phe318Cys)
|
rs28939075
|
|
|
NM_005097.4(LGI1):c.962T>C (p.Ile321Thr)
|
|
|
|
NM_005097.4(LGI1):c.990A>G (p.Arg330=)
|
rs2134026312
|
|
|
NM_005097.4(LGI1):c.992A>C (p.Lys331Thr)
|
rs2059987155
|
|
|
NM_005506.4(SCARB2):c.1002dup (p.Ile335fs)
|
rs780638384
|
|
|
NM_005506.4(SCARB2):c.1005C>T (p.Ile335=)
|
|
|
|
NM_005506.4(SCARB2):c.1014T>G (p.Ser338=)
|
rs1732095676
|
|
|
NM_005506.4(SCARB2):c.1016dup (p.His341fs)
|
rs886041077
|
|
|
NM_005506.4(SCARB2):c.1026T>C (p.Phe342=)
|
|
|
|
NM_005506.4(SCARB2):c.1030C>T (p.Gln344Ter)
|
|
|
|
NM_005506.4(SCARB2):c.1034C>A (p.Ala345Glu)
|
|
|
|
NM_005506.4(SCARB2):c.1043G>A (p.Arg348Lys)
|
rs1435706864
|
|
|
NM_005506.4(SCARB2):c.1056C>A (p.Ala352=)
|
|
|
|
NM_005506.4(SCARB2):c.105G>T (p.Gln35His)
|
|
|
|
NM_005506.4(SCARB2):c.1066A>C (p.Met356Leu)
|
|
|
|
NM_005506.4(SCARB2):c.1086C>T (p.Asp362=)
|
rs1238674003
|
|
|
NM_005506.4(SCARB2):c.1087C>A (p.His363Asn)
|
rs758857853
|
|
|
NM_005506.4(SCARB2):c.108dup (p.Ile37fs)
|
rs1733108376
|
|
|
NM_005506.4(SCARB2):c.1097T>C (p.Phe366Ser)
|
rs1374602411
|
|
|
NM_005506.4(SCARB2):c.1107T>A (p.Ile369=)
|
rs2109937710
|
|
|
NM_005506.4(SCARB2):c.1113+16C>T
|
|
|
|
NM_005506.4(SCARB2):c.1113+1G>T
|
rs2109937707
|
|
|
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.1114-2A>C
|
rs727502781
|
|
|
NM_005506.4(SCARB2):c.1114-2A>G
|
|
|
|
NM_005506.4(SCARB2):c.1114-3C>T
|
rs1560705500
|
|
|
NM_005506.4(SCARB2):c.1118C>T (p.Thr373Ile)
|
rs1732061373
|
|
|
NM_005506.4(SCARB2):c.1119T>G (p.Thr373=)
|
|
|
|
NM_005506.4(SCARB2):c.111del (p.Ile37fs)
|
rs886041072
|
|
|
NM_005506.4(SCARB2):c.1142A>G (p.Lys381Arg)
|
|
|
|
NM_005506.4(SCARB2):c.1161T>C (p.Ile387=)
|
|
|
|
NM_005506.4(SCARB2):c.1164T>C (p.Tyr388=)
|
rs777550966
|
|
|
NM_005506.4(SCARB2):c.117+3G>A
|
rs1733107604
|
|
|
NM_005506.4(SCARB2):c.117+6G>C
|
rs2109974158
|
|
|
NM_005506.4(SCARB2):c.1172A>C (p.Lys391Thr)
|
rs1732060256
|
|
|
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.1188-3T>C
|
rs1251392642
|
|
|
NM_005506.4(SCARB2):c.11G>A (p.Cys4Tyr)
|
rs1196467385
|
|
|
NM_005506.4(SCARB2):c.1201A>G (p.Ile401Val)
|
rs1405139421
|
|
|
NM_005506.4(SCARB2):c.1224G>A (p.Val408=)
|
rs1803391
|
|
|
NM_005506.4(SCARB2):c.1229A>T (p.Tyr410Phe)
|
rs777270813
|
|
|
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.1239+1G>T
|
rs727502772
|
|
|
NM_005506.4(SCARB2):c.1240-15T>G
|
rs2109931990
|
|
|
NM_005506.4(SCARB2):c.1240-2A>G
|
|
|
|
NM_005506.4(SCARB2):c.1240-4C>T
|
|
|
|
NM_005506.4(SCARB2):c.1240-6C>G
|
|
|
|
NM_005506.4(SCARB2):c.1240_1241delAG (p.Ser414fs)
|
rs1178344132
|
|
|
NM_005506.4(SCARB2):c.1242T>C (p.Ser414=)
|
|
|
|
NM_005506.4(SCARB2):c.1245T>G (p.Val415=)
|
rs1262722686
|
|
|
NM_005506.4(SCARB2):c.1249A>T (p.Ile417Phe)
|
|
|
|
NM_005506.4(SCARB2):c.1258del (p.Glu420fs)
|
rs727502782
|
|
|
NM_005506.4(SCARB2):c.1260_1261dup (p.Thr421fs)
|
|
|
|
NM_005506.4(SCARB2):c.1275G>A (p.Leu425=)
|
|
|
|
NM_005506.4(SCARB2):c.127T>C (p.Leu43=)
|
|
|
|
NM_005506.4(SCARB2):c.1283T>C (p.Met428Thr)
|
rs2109931937
|
|
|
NM_005506.4(SCARB2):c.12C>T (p.Cys4=)
|
|
|
|
NM_005506.4(SCARB2):c.1305C>T (p.Ile435=)
|
|
|
|
NM_005506.4(SCARB2):c.1307C>T (p.Thr436Ile)
|
rs1731937544
|
|
|
NM_005506.4(SCARB2):c.1312A>G (p.Ile438Val)
|
|
|
|
NM_005506.4(SCARB2):c.1313T>C (p.Ile438Thr)
|
|
|
|
NM_005506.4(SCARB2):c.1317C>G (p.Pro439=)
|
rs1731937017
|
|
|
NM_005506.4(SCARB2):c.1319A>G (p.Tyr440Cys)
|
|
|
|
NM_005506.4(SCARB2):c.134del (p.Asn45fs)
|
rs1578733075
|
|
|
NM_005506.4(SCARB2):c.1365G>C (p.Trp455Cys)
|
rs995674389
|
|
|
NM_005506.4(SCARB2):c.1369G>A (p.Ala457Thr)
|
|
|
|
NM_005506.4(SCARB2):c.1371A>C (p.Ala457=)
|
|
|
|
NM_005506.4(SCARB2):c.1373G>T (p.Cys458Phe)
|
rs1578712032
|
|
|
NM_005506.4(SCARB2):c.1378G>A (p.Gly460Arg)
|
|
|
|
NM_005506.4(SCARB2):c.1385_1390delinsATGCATGCACC (p.Gly462fs)
|
rs886041079
|
|
|
NM_005506.4(SCARB2):c.1386A>T (p.Gly462=)
|
rs1315496558
|
|
|
NM_005506.4(SCARB2):c.1393G>A (p.Asp465Asn)
|
rs1238888097
|
|
|
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.1399-11C>G
|
rs1392686046
|
|
|
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.140C>T (p.Thr47Ile)
|
rs1732700794
|
|
|
NM_005506.4(SCARB2):c.1412A>G (p.Glu471Gly)
|
rs755903502
|
|
|
NM_005506.4(SCARB2):c.1412A>T (p.Glu471Val)
|
rs755903502
|
|
|
NM_005506.4(SCARB2):c.141T>C (p.Thr47=)
|
rs2109960926
|
|
|
NM_005506.4(SCARB2):c.1430G>A (p.Arg477Gln)
|
rs1480481844
|
|
|
NM_005506.4(SCARB2):c.1432del (p.Thr478fs)
|
rs756112626
|
|
|
NM_005506.4(SCARB2):c.1433C>A (p.Thr478Asn)
|
rs2109930564
|
|
|
NM_005506.4(SCARB2):c.147A>G (p.Ala49=)
|
rs764449103
|
|
|
NM_005506.4(SCARB2):c.160G>A (p.Glu54Lys)
|
|
|
|
NM_005506.4(SCARB2):c.166C>T (p.Pro56Ser)
|
rs2109960897
|
|
|
NM_005506.4(SCARB2):c.172C>G (p.Leu58Val)
|
|
|
|
NM_005506.4(SCARB2):c.178G>T (p.Val60Leu)
|
rs1287892295
|
|
|
NM_005506.4(SCARB2):c.201C>T (p.Phe67=)
|
rs749098073
|
|
|
NM_005506.4(SCARB2):c.204T>C (p.Asn68=)
|
|
|
|
NM_005506.4(SCARB2):c.212A>G (p.Asn71Ser)
|
|
|
|
NM_005506.4(SCARB2):c.21C>T (p.Tyr7=)
|
rs1259404552
|
|
|
NM_005506.4(SCARB2):c.223A>T (p.Ile75Phe)
|
rs1560716099
|
|
|
NM_005506.4(SCARB2):c.226del (p.Leu76fs)
|
|
|
|
NM_005506.4(SCARB2):c.228C>G (p.Leu76=)
|
rs35069772
|
|
|
NM_005506.4(SCARB2):c.231A>T (p.Arg77Ser)
|
|
|
|
NM_005506.4(SCARB2):c.232G>A (p.Gly78Arg)
|
|
|
|
NM_005506.4(SCARB2):c.234G>C (p.Gly78=)
|
|
|
|
NM_005506.4(SCARB2):c.235del (p.Glu79fs)
|
rs1732698125
|
|
|
NM_005506.4(SCARB2):c.237G>C (p.Glu79Asp)
|
rs1348033527
|
|
|
NM_005506.4(SCARB2):c.245G>T (p.Arg82Leu)
|
rs1422181706
|
|
|
NM_005506.4(SCARB2):c.249G>A (p.Val83=)
|
|
|
|
NM_005506.4(SCARB2):c.251A>G (p.Glu84Gly)
|
|
|
|
NM_005506.4(SCARB2):c.256G>A (p.Val86Met)
|
rs1732697033
|
|
|
NM_005506.4(SCARB2):c.268A>C (p.Thr90Pro)
|
rs1732696609
|
|
|
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.296del (p.Asn99fs)
|
rs886041073
|
|
|
NM_005506.4(SCARB2):c.299T>C (p.Ile100Thr)
|
rs2109948743
|
|
|
NM_005506.4(SCARB2):c.303A>G (p.Gln101=)
|
rs1242165140
|
|
|
NM_005506.4(SCARB2):c.314A>T (p.Asn105Ile)
|
rs1732373905
|
|
|
NM_005506.4(SCARB2):c.315T>C (p.Asn105=)
|
rs2109948728
|
|
|
NM_005506.4(SCARB2):c.328T>C (p.Ser110Pro)
|
|
|
|
NM_005506.4(SCARB2):c.343A>C (p.Lys115Gln)
|
rs1732373432
|
|
|
NM_005506.4(SCARB2):c.345G>A (p.Lys115=)
|
|
|
|
NM_005506.4(SCARB2):c.346G>A (p.Ala116Thr)
|
|
|
|
NM_005506.4(SCARB2):c.346G>T (p.Ala116Ser)
|
rs1732373270
|
|
|
NM_005506.4(SCARB2):c.353T>G (p.Val118Gly)
|
|
|
|
NM_005506.4(SCARB2):c.365A>T (p.Asp122Val)
|
|
|
|
NM_005506.4(SCARB2):c.366C>G (p.Asp122Glu)
|
rs2109948680
|
|
|
NM_005506.4(SCARB2):c.367dup (p.Gln123fs)
|
rs1553948516
|
|
|
NM_005506.4(SCARB2):c.372T>G (p.Ser124=)
|
rs2109948665
|
|
|
NM_005506.4(SCARB2):c.381C>G (p.Asp127Glu)
|
rs1553948511
|
|
|
NM_005506.4(SCARB2):c.382C>T (p.Pro128Ser)
|
rs143558324
|
|
|
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.424-19A>G
|
|
|
|
NM_005506.4(SCARB2):c.424-1G>A
|
rs1732338984
|
|
|
NM_005506.4(SCARB2):c.424-2A>C
|
rs886041074
|
|
|
NM_005506.4(SCARB2):c.434_435dup (p.Trp146fs)
|
rs727502773
|
|
|
NM_005506.4(SCARB2):c.440C>T (p.Ser147Phe)
|
|
|
|
NM_005506.4(SCARB2):c.443A>G (p.Gln148Arg)
|
rs1560710284
|
|
|
NM_005506.4(SCARB2):c.444G>A (p.Gln148=)
|
|
|
|
NM_005506.4(SCARB2):c.451T>A (p.Phe151Ile)
|
rs1732338247
|
|
|
NM_005506.4(SCARB2):c.451T>C (p.Phe151Leu)
|
rs1732338247
|
|
|
NM_005506.4(SCARB2):c.459G>A (p.Arg153=)
|
rs2109947357
|
|
|
NM_005506.4(SCARB2):c.465C>G (p.Ile155Met)
|
|
|
|
NM_005506.4(SCARB2):c.488A>G (p.Tyr163Cys)
|
rs1326652823
|
|
|
NM_005506.4(SCARB2):c.495G>A (p.Gln165=)
|
rs748957598
|
|
|
NM_005506.4(SCARB2):c.508A>T (p.Thr170Ser)
|
rs2109947296
|
|
|
NM_005506.4(SCARB2):c.511C>T (p.His171Tyr)
|
rs756489019
|
|
|
NM_005506.4(SCARB2):c.523G>C (p.Glu175Gln)
|
rs751711805
|
|
|
NM_005506.4(SCARB2):c.526T>C (p.Leu176=)
|
rs2109947255
|
|
|
NM_005506.4(SCARB2):c.527T>C (p.Leu176Ser)
|
|
|
|
NM_005506.4(SCARB2):c.533G>A (p.Trp178Ter)
|
rs121909119
|
|
|
NM_005506.4(SCARB2):c.541A>C (p.Lys181Gln)
|
|
|
|
NM_005506.4(SCARB2):c.549A>G (p.Glu183=)
|
rs2109947229
|
|
|
NM_005506.4(SCARB2):c.55_75del (p.Thr19_Val25del)
|
rs1401788267
|
|
|
NM_005506.4(SCARB2):c.57C>T (p.Thr19=)
|
|
|
|
NM_005506.4(SCARB2):c.584T>G (p.Ile195Ser)
|
rs2109947161
|
|
|
NM_005506.4(SCARB2):c.585C>A (p.Ile195=)
|
|
|
|
NM_005506.4(SCARB2):c.594T>C (p.Tyr198=)
|
|
|
|
NM_005506.4(SCARB2):c.605T>C (p.Phe202Ser)
|
rs768181886
|
|
|
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.638A>C (p.Tyr213Ser)
|
rs751953388
|
|
|
NM_005506.4(SCARB2):c.638_639del (p.Tyr213fs)
|
rs2109944333
|
|
|
NM_005506.4(SCARB2):c.65C>T (p.Thr22Met)
|
rs1733110733
|
|
|
NM_005506.4(SCARB2):c.666_670del (p.Tyr222_Asn224delinsTer)
|
rs886041075
|
|
|
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.704+1G>C
|
rs886041076
|
|
|
NM_005506.4(SCARB2):c.705-16T>G
|
|
|
|
NM_005506.4(SCARB2):c.705-19T>C
|
|
|
|
NM_005506.4(SCARB2):c.705-3T>C
|
|
|
|
NM_005506.4(SCARB2):c.705G>A (p.Thr235=)
|
rs2109943699
|
|
|
NM_005506.4(SCARB2):c.713A>G (p.Asp238Gly)
|
rs1732242578
|
|
|
NM_005506.4(SCARB2):c.727G>A (p.Asp243Asn)
|
rs751498101
|
|
|
NM_005506.4(SCARB2):c.72G>A (p.Leu24=)
|
rs2109974267
|
|
|
NM_005506.4(SCARB2):c.72G>T (p.Leu24=)
|
rs2109974267
|
|
|
NM_005506.4(SCARB2):c.741_743del (p.Met247del)
|
rs1732241629
|
|
|
NM_005506.4(SCARB2):c.752C>T (p.Thr251Ile)
|
rs1553948166
|
|
|
NM_005506.4(SCARB2):c.764C>T (p.Ser255Phe)
|
rs1211983888
|
|
|
NM_005506.4(SCARB2):c.781A>G (p.Thr261Ala)
|
rs1732241039
|
|
|
NM_005506.4(SCARB2):c.78C>A (p.Ala26=)
|
|
|
|
NM_005506.4(SCARB2):c.78C>G (p.Ala26=)
|
rs756157659
|
|
|
NM_005506.4(SCARB2):c.802G>A (p.Val268Ile)
|
|
|
|
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.833A>G (p.Tyr278Cys)
|
rs774730087
|
|
|
NM_005506.4(SCARB2):c.839C>G (p.Thr280Ser)
|
rs768765087
|
|
|
NM_005506.4(SCARB2):c.84C>T (p.Val28=)
|
rs781459404
|
|
|
NM_005506.4(SCARB2):c.850del (p.Tyr284fs)
|
rs2109942038
|
|
|
NM_005506.4(SCARB2):c.854A>G (p.Glu285Gly)
|
|
|
|
NM_005506.4(SCARB2):c.858T>C (p.Ser286=)
|
|
|
|
NM_005506.4(SCARB2):c.869T>A (p.Leu290Gln)
|
rs1553948019
|
|
|
NM_005506.4(SCARB2):c.879T>C (p.Phe293=)
|
rs2109941982
|
|
|
NM_005506.4(SCARB2):c.881G>A (p.Arg294Gln)
|
rs752667549
|
|
|
NM_005506.4(SCARB2):c.889G>C (p.Val297Leu)
|
|
|
|
NM_005506.4(SCARB2):c.88C>T (p.Gln30Ter)
|
|
|
|
NM_005506.4(SCARB2):c.8G>A (p.Arg3Gln)
|
rs937537878
|
|
|
NM_005506.4(SCARB2):c.901A>G (p.Ile301Val)
|
rs2109941946
|
|
|
NM_005506.4(SCARB2):c.903A>G (p.Ile301Met)
|
rs1485497925
|
|
|
NM_005506.4(SCARB2):c.910A>G (p.Asn304Asp)
|
rs1732197179
|
|
|
NM_005506.4(SCARB2):c.927C>T (p.Ala309=)
|
rs775395230
|
|
|
NM_005506.4(SCARB2):c.951C>G (p.Asn317Lys)
|
rs1732195814
|
|
|
NM_005506.4(SCARB2):c.956del (p.Leu319fs)
|
rs1732195544
|
|
|
NM_005506.4(SCARB2):c.962C>T (p.Ser321Leu)
|
rs1553947990
|
|
|
NM_005506.4(SCARB2):c.967G>A (p.Val323Ile)
|
rs2109941801
|
|
|
NM_005506.4(SCARB2):c.970C>G (p.Leu324Val)
|
rs1732195035
|
|
|
NM_005506.4(SCARB2):c.986G>A (p.Cys329Tyr)
|
|
|
|
NM_005506.4(SCARB2):c.994+19G>T
|
rs2109941762
|
|
|
NM_005506.4(SCARB2):c.995-16_1062delinsG
|
|
|
|
NM_005506.4(SCARB2):c.998C>T (p.Ala333Val)
|
rs2109937871
|
|
|
NM_005506.4(SCARB2):c.9A>T (p.Arg3=)
|
rs148558907
|
|
|
NM_005670.4(EPM2A):c.101C>A (p.Pro34Gln)
|
rs1776814515
|
|
|
NM_005670.4(EPM2A):c.101C>T (p.Pro34Leu)
|
|
|
|
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.108_139del (p.Ala37fs)
|
rs1204045237
|
|
|
NM_005670.4(EPM2A):c.111C>T (p.Ala37=)
|
rs1425061464
|
|
|
NM_005670.4(EPM2A):c.112_153dup (p.Val38_Ala51dup)
|
rs1339413651
|
|
|
NM_005670.4(EPM2A):c.117C>T (p.Arg39=)
|
|
|
|
NM_005670.4(EPM2A):c.118C>A (p.Leu40Met)
|
|
|
|
NM_005670.4(EPM2A):c.118C>T (p.Leu40=)
|
rs1583156932
|
|
|
NM_005670.4(EPM2A):c.118del (p.Arg39_Leu40insTer)
|
rs1170939620
|
|
|
NM_005670.4(EPM2A):c.11G>A (p.Arg4His)
|
|
|
|
NM_005670.4(EPM2A):c.125C>T (p.Pro42Leu)
|
|
|
|
NM_005670.4(EPM2A):c.126G>T (p.Pro42=)
|
|
|
|
NM_005670.4(EPM2A):c.130G>A (p.Gly44Ser)
|
|
|
|
NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr)
|
rs374338349
|
|
|
NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro)
|
rs374338349
|
|
|
NM_005670.4(EPM2A):c.141G>A (p.Ala47=)
|
rs1363081086
|
|
|
NM_005670.4(EPM2A):c.148G>T (p.Gly50Trp)
|
|
|
|
NM_005670.4(EPM2A):c.149G>A (p.Gly50Glu)
|
rs796052422
|
|
|
NM_005670.4(EPM2A):c.14T>G (p.Phe5Cys)
|
rs2128650105
|
|
|
NM_005670.4(EPM2A):c.155T>G (p.Leu52Arg)
|
|
|
|
NM_005670.4(EPM2A):c.158C>T (p.Ala53Val)
|
rs1776804791
|
|
|
NM_005670.4(EPM2A):c.158_159inv (p.Ala53Gly)
|
|
|
|
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.163C>T (p.Gln55Ter)
|
rs187930476
|
|
|
NM_005670.4(EPM2A):c.164A>C (p.Gln55Pro)
|
rs1776803315
|
|
|
NM_005670.4(EPM2A):c.166G>C (p.Glu56Gln)
|
rs796052424
|
|
|
NM_005670.4(EPM2A):c.166G>T (p.Glu56Ter)
|
rs796052424
|
|
|
NM_005670.4(EPM2A):c.168G>A (p.Glu56=)
|
|
|
|
NM_005670.4(EPM2A):c.169C>A (p.Pro57Thr)
|
rs1308438113
|
|
|
NM_005670.4(EPM2A):c.16G>C (p.Gly6Arg)
|
rs1776824378
|
|
|
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.179G>A (p.Trp60Ter)
|
|
|
|
NM_005670.4(EPM2A):c.194_214dup (p.Ala71_Ala72insGluLeuAlaAlaGluGluAla)
|
|
|
|
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.206_207delinsGC (p.Glu69Gly)
|
rs1583156284
|
|
|
NM_005670.4(EPM2A):c.211_231dup (p.Ala71_Glu77dup)
|
rs2128649485
|
|
|
NM_005670.4(EPM2A):c.212C>T (p.Ala71Val)
|
rs1263035227
|
|
|
NM_005670.4(EPM2A):c.217C>G (p.Gln73Glu)
|
rs1165179833
|
|
|
NM_005670.4(EPM2A):c.226G>C (p.Ala76Pro)
|
rs1333556119
|
|
|
NM_005670.4(EPM2A):c.22G>A (p.Val8Met)
|
rs1326700627
|
|
|
NM_005670.4(EPM2A):c.234G>A (p.Pro78=)
|
rs2128649479
|
|
|
NM_005670.4(EPM2A):c.235G>T (p.Gly79Cys)
|
rs374826256
|
|
|
NM_005670.4(EPM2A):c.243G>C (p.Val81=)
|
|
|
|
NM_005670.4(EPM2A):c.246C>T (p.Asp82=)
|
rs1776792686
|
|
|
NM_005670.4(EPM2A):c.248C>T (p.Thr83Met)
|
rs780634800
|
|
|
NM_005670.4(EPM2A):c.252C>G (p.Phe84Leu)
|
rs1362231306
|
|
|
NM_005670.4(EPM2A):c.256T>G (p.Tyr86Asp)
|
|
|
|
NM_005670.4(EPM2A):c.258C>G (p.Tyr86Ter)
|
rs750988816
|
|
|
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.275A>G (p.Glu92Gly)
|
rs1776788119
|
|
|
NM_005670.4(EPM2A):c.276G>A (p.Glu92=)
|
rs766208204
|
|
|
NM_005670.4(EPM2A):c.281G>A (p.Gly94Glu)
|
rs2128649334
|
|
|
NM_005670.4(EPM2A):c.291C>T (p.Leu97=)
|
|
|
|
NM_005670.4(EPM2A):c.298G>T (p.Glu100Ter)
|
|
|
|
NM_005670.4(EPM2A):c.298_299delinsTT (p.Glu100Leu)
|
|
|
|
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.301+2T>C
|
|
|
|
NM_005670.4(EPM2A):c.301+5T>G
|
rs776655093
|
|
|
NM_005670.4(EPM2A):c.302-17A>G
|
rs1286332017
|
|
|
NM_005670.4(EPM2A):c.302-20A>T
|
rs779211684
|
|
|
NM_005670.4(EPM2A):c.302-2A>G
|
rs780648601
|
|
|
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.314A>G (p.His105Arg)
|
rs1554263366
|
|
|
NM_005670.4(EPM2A):c.31C>T (p.Pro11Ser)
|
rs1583157330
|
|
|
NM_005670.4(EPM2A):c.322del (p.Arg108fs)
|
rs2128614455
|
|
|
NM_005670.4(EPM2A):c.333T>C (p.Thr111=)
|
rs1780905564
|
|
|
NM_005670.4(EPM2A):c.335dup (p.Tyr112Ter)
|
rs587776553
|
|
|
NM_005670.4(EPM2A):c.347A>G (p.Asn116Ser)
|
|
|
|
NM_005670.4(EPM2A):c.34G>A (p.Ala12Thr)
|
rs1776822048
|
|
|
NM_005670.4(EPM2A):c.360T>C (p.Gly120=)
|
rs2128614372
|
|
|
NM_005670.4(EPM2A):c.363_364dup (p.Tyr122fs)
|
rs1780901751
|
|
|
NM_005670.4(EPM2A):c.37G>A (p.Val13Met)
|
rs567454946
|
|
|
NM_005670.4(EPM2A):c.37G>C (p.Val13Leu)
|
rs567454946
|
|
|
NM_005670.4(EPM2A):c.394G>T (p.Ala132Ser)
|
rs1054138980
|
|
|
NM_005670.4(EPM2A):c.39G>T (p.Val13=)
|
|
|
|
NM_005670.4(EPM2A):c.406A>G (p.Thr136Ala)
|
rs746523076
|
|
|
NM_005670.4(EPM2A):c.411T>C (p.Asn137=)
|
|
|
|
NM_005670.4(EPM2A):c.424A>G (p.Thr142Ala)
|
|
|
|
NM_005670.4(EPM2A):c.42C>G (p.Ala14=)
|
rs2128650003
|
|
|
NM_005670.4(EPM2A):c.447T>G (p.Ile149Met)
|
rs2128614175
|
|
|
NM_005670.4(EPM2A):c.452G>A (p.Gly151Asp)
|
rs1173939028
|
|
|
NM_005670.4(EPM2A):c.45C>A (p.Gly15=)
|
rs2128649993
|
|
|
NM_005670.4(EPM2A):c.464T>C (p.Met155Thr)
|
rs1199898061
|
|
|
NM_005670.4(EPM2A):c.466_469dup (p.Tyr157fs)
|
rs1554263320
|
|
|
NM_005670.4(EPM2A):c.476+19T>G
|
|
|
|
NM_005670.4(EPM2A):c.476+5A>G
|
rs1780888090
|
|
|
NM_005670.4(EPM2A):c.476G>A (p.Arg159Lys)
|
|
|
|
NM_005670.4(EPM2A):c.477-19C>T
|
|
|
|
NM_005670.4(EPM2A):c.48C>A (p.Ala16=)
|
rs1776820090
|
|
|
NM_005670.4(EPM2A):c.495G>A (p.Trp165Ter)
|
rs781291421
|
|
|
NM_005670.4(EPM2A):c.499G>C (p.Gly167Arg)
|
rs1776588836
|
|
|
NM_005670.4(EPM2A):c.4C>A (p.Arg2Ser)
|
|
|
|
NM_005670.4(EPM2A):c.4C>T (p.Arg2Cys)
|
rs796052431
|
|
|
NM_005670.4(EPM2A):c.4_39del (p.Arg2_Val13del)
|
rs1583157261
|
|
|
NM_005670.4(EPM2A):c.501T>C (p.Gly167=)
|
|
|
|
NM_005670.4(EPM2A):c.505T>C (p.Cys169Arg)
|
rs1776588357
|
|
|
NM_005670.4(EPM2A):c.513T>C (p.Arg171=)
|
|
|
|
NM_005670.4(EPM2A):c.525T>C (p.His175=)
|
rs2128562729
|
|
|
NM_005670.4(EPM2A):c.539T>C (p.Leu180Pro)
|
rs1490039469
|
|
|
NM_005670.4(EPM2A):c.53C>A (p.Pro18Gln)
|
rs1422428137
|
|
|
NM_005670.4(EPM2A):c.546T>C (p.His182=)
|
rs1776583674
|
|
|
NM_005670.4(EPM2A):c.558T>C (p.Ile186=)
|
|
|
|
NM_005670.4(EPM2A):c.55G>A (p.Glu19Lys)
|
rs2128649959
|
|
|
NM_005670.4(EPM2A):c.560C>G (p.Thr187Arg)
|
rs1582935082
|
|
|
NM_005670.4(EPM2A):c.560C>T (p.Thr187Ile)
|
rs1582935082
|
|
|
NM_005670.4(EPM2A):c.564T>G (p.Ala188=)
|
rs1342189516
|
|
|
NM_005670.4(EPM2A):c.568A>G (p.Met190Val)
|
|
|
|
NM_005670.4(EPM2A):c.575T>C (p.Phe192Ser)
|
rs2128562619
|
|
|
NM_005670.4(EPM2A):c.58C>G (p.Leu20Val)
|
|
|
|
NM_005670.4(EPM2A):c.58C>T (p.Leu20=)
|
rs2128649954
|
|
|
NM_005670.4(EPM2A):c.59T>A (p.Leu20Gln)
|
rs2128649947
|
|
|
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.634A>G (p.Met212Val)
|
rs1562424241
|
|
|
NM_005670.4(EPM2A):c.636G>A (p.Met212Ile)
|
rs1776570738
|
|
|
NM_005670.4(EPM2A):c.639T>C (p.Thr213=)
|
|
|
|
NM_005670.4(EPM2A):c.639_640delinsAA (p.Pro214Thr)
|
rs1554256996
|
|
|
NM_005670.4(EPM2A):c.640C>G (p.Pro214Ala)
|
rs1278542056
|
|
|
NM_005670.4(EPM2A):c.64G>C (p.Val22Leu)
|
rs1776818861
|
|
|
NM_005670.4(EPM2A):c.651G>A (p.Met217Ile)
|
rs2128562483
|
|
|
NM_005670.4(EPM2A):c.65T>A (p.Val22Glu)
|
rs1776818676
|
|
|
NM_005670.4(EPM2A):c.67G>C (p.Val23Leu)
|
rs1060503233
|
|
|
NM_005670.4(EPM2A):c.698C>T (p.Thr233Ile)
|
|
|
|
NM_005670.4(EPM2A):c.69G>A (p.Val23=)
|
|
|
|
NM_005670.4(EPM2A):c.701C>A (p.Pro234Gln)
|
rs1554256976
|
|
|
NM_005670.4(EPM2A):c.706A>G (p.Met236Val)
|
rs906096146
|
|
|
NM_005670.4(EPM2A):c.707T>C (p.Met236Thr)
|
rs1776560298
|
|
|
NM_005670.4(EPM2A):c.70G>C (p.Gly24Arg)
|
rs1554269710
|
|
|
NM_005670.4(EPM2A):c.714C>G (p.Thr238=)
|
rs762653955
|
|
|
NM_005670.4(EPM2A):c.716A>T (p.Glu239Val)
|
|
|
|
NM_005670.4(EPM2A):c.719-15C>T
|
|
|
|
NM_005670.4(EPM2A):c.719-8del
|
|
|
|
NM_005670.4(EPM2A):c.721C>G (p.Arg241Gly)
|
rs104893950
|
|
|
NM_005670.4(EPM2A):c.731T>G (p.Met244Arg)
|
rs749563452
|
|
|
NM_005670.4(EPM2A):c.745G>A (p.Val249Met)
|
rs1387516050
|
|
|
NM_005670.4(EPM2A):c.745G>T (p.Val249Leu)
|
rs1387516050
|
|
|
NM_005670.4(EPM2A):c.74C>A (p.Ser25Ter)
|
rs1776817138
|
|
|
NM_005670.4(EPM2A):c.758A>G (p.His253Arg)
|
rs749937487
|
|
|
NM_005670.4(EPM2A):c.758A>T (p.His253Leu)
|
rs749937487
|
|
|
NM_005670.4(EPM2A):c.759T>C (p.His253=)
|
rs1775923559
|
|
|
NM_005670.4(EPM2A):c.759_760insATGCA (p.Ala254fs)
|
rs1775923311
|
|
|
NM_005670.4(EPM2A):c.759delinsCATGCA (p.Ala254fs)
|
rs1131691331
|
|
|
NM_005670.4(EPM2A):c.767T>C (p.Leu256Pro)
|
rs2128556216
|
|
|
NM_005670.4(EPM2A):c.770A>G (p.Glu257Gly)
|
rs1351520468
|
|
|
NM_005670.4(EPM2A):c.777A>G (p.Gly259=)
|
|
|
|
NM_005670.4(EPM2A):c.77G>T (p.Arg26Leu)
|
rs796052433
|
|
|
NM_005670.4(EPM2A):c.783C>T (p.Ile261=)
|
|
|
|
NM_005670.4(EPM2A):c.784G>A (p.Val262Met)
|
rs1582913143
|
|
|
NM_005670.4(EPM2A):c.789C>G (p.Tyr263Ter)
|
|
|
|
NM_005670.4(EPM2A):c.789C>T (p.Tyr263=)
|
|
|
|
NM_005670.4(EPM2A):c.790G>A (p.Val264Met)
|
|
|
|
NM_005670.4(EPM2A):c.792G>A (p.Val264=)
|
|
|
|
NM_005670.4(EPM2A):c.794A>G (p.His265Arg)
|
rs201053542
|
|
|
NM_005670.4(EPM2A):c.797G>C (p.Cys266Ser)
|
rs778069029
|
|
|
NM_005670.4(EPM2A):c.800A>G (p.Asn267Ser)
|
rs1220880720
|
|
|
NM_005670.4(EPM2A):c.81C>G (p.Pro27=)
|
|
|
|
NM_005670.4(EPM2A):c.81C>T (p.Pro27=)
|
|
|
|
NM_005670.4(EPM2A):c.82G>A (p.Glu28Lys)
|
rs1776816199
|
|
|
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser)
|
rs137852917
|
|
|
NM_005670.4(EPM2A):c.835G>T (p.Gly279Cys)
|
rs137852917
|
|
|
NM_005670.4(EPM2A):c.841C>T (p.Leu281Phe)
|
rs367551823
|
|
|
NM_005670.4(EPM2A):c.848A>G (p.Tyr283Cys)
|
rs897601301
|
|
|
NM_005670.4(EPM2A):c.85C>G (p.Leu29Val)
|
rs2128649886
|
|
|
NM_005670.4(EPM2A):c.861G>A (p.Trp287Ter)
|
|
|
|
NM_005670.4(EPM2A):c.86T>C (p.Leu29Pro)
|
rs2128649883
|
|
|
NM_005670.4(EPM2A):c.874G>T (p.Val292Leu)
|
|
|
|
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.901C>A (p.Pro301Thr)
|
rs1050606699
|
|
|
NM_005670.4(EPM2A):c.902C>T (p.Pro301Leu)
|
rs796052428
|
|
|
NM_005670.4(EPM2A):c.903G>A (p.Pro301=)
|
rs141361861
|
|
|
NM_005670.4(EPM2A):c.903G>C (p.Pro301=)
|
rs141361861
|
|
|
NM_005670.4(EPM2A):c.911A>G (p.Tyr304Cys)
|
|
|
|
NM_005670.4(EPM2A):c.92G>A (p.Arg31His)
|
rs1562535536
|
|
|
NM_005670.4(EPM2A):c.92_124del (p.Arg31_Arg41del)
|
rs2128649765
|
|
|
NM_005670.4(EPM2A):c.934dup (p.Arg312fs)
|
rs2128555980
|
|
|
NM_005670.4(EPM2A):c.942A>G (p.Gln314=)
|
|
|
|
NM_005670.4(EPM2A):c.94T>A (p.Trp32Arg)
|
rs104893955
|
|
|
NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly)
|
rs104893955
|
|
|
NM_005670.4(EPM2A):c.953dup (p.Gln319fs)
|
rs587776554
|
|
|
NM_005670.4(EPM2A):c.957G>C (p.Gln319His)
|
|
|
|
NM_005670.4(EPM2A):c.962T>G (p.Phe321Cys)
|
rs772620616
|
|
|
NM_005670.4(EPM2A):c.96G>A (p.Trp32Ter)
|
|
|
|
NM_005670.4(EPM2A):c.975T>C (p.Arg325=)
|
rs370469632
|
|
|
NM_005670.4(EPM2A):c.977C>T (p.Ser326Phe)
|
rs1404589826
|
|
|
NM_005670.4(EPM2A):c.979T>C (p.Ser327Pro)
|
rs768781694
|
|
|
NM_005670.4(EPM2A):c.981T>G (p.Ser327=)
|
rs2128555915
|
|
|
NM_005670.4(EPM2A):c.994_*12del (p.Ter332del)
|
|
|
|
NM_005670.4(EPM2A):c.9C>T (p.Phe3=)
|
rs2128650111
|
|
|
NM_005885.4(MARCHF6):c.19+2427TTTAT[641]
|
|
|
|
NM_005885.4(MARCHF6):c.914-8C>G
|
rs2126759091
|
|
|
NM_005898.5(CAPRIN1):c.891_894del (p.Arg297fs)
|
|
|
|
NM_006277.3(ITSN2):c.4208A>G (p.Asp1403Gly)
|
rs1553340826
|
|
|
NM_006516.4(SLC2A1):c.1010A>T (p.His337Leu)
|
rs1553155982
|
|
|
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter)
|
rs886037963
|
|
|
NM_006545.5(NPRL2):c.158A>G (p.Lys53Arg)
|
|
|
|
NM_006545.5(NPRL2):c.213C>G (p.Ile71Met)
|
rs752423985
|
|
|
NM_006545.5(NPRL2):c.232C>T (p.Arg78Cys)
|
|
|
|
NM_006545.5(NPRL2):c.233G>T (p.Arg78Leu)
|
rs1559857717
|
|
|
NM_006545.5(NPRL2):c.260T>C (p.Phe87Ser)
|
|
|
|
NM_006545.5(NPRL2):c.314T>C (p.Leu105Pro)
|
rs886037965
|
|
|
NM_006545.5(NPRL2):c.416T>G (p.Leu139Arg)
|
|
|
|
NM_006545.5(NPRL2):c.445_448+3del
|
rs1575562076
|
|
|
NM_006545.5(NPRL2):c.472A>G (p.Lys158Glu)
|
rs1703653579
|
|
|
NM_006545.5(NPRL2):c.491dup (p.Asp165fs)
|
rs1703652698
|
|
|
NM_006545.5(NPRL2):c.562C>T (p.Gln188Ter)
|
rs2109365845
|
|
|
NM_006545.5(NPRL2):c.586-3C>A
|
rs775206926
|
|
|
NM_006545.5(NPRL2):c.602A>C (p.Asp201Ala)
|
rs202157450
|
|
|
NM_006545.5(NPRL2):c.683T>C (p.Leu228Pro)
|
rs1559856358
|
|
|
NM_006545.5(NPRL2):c.684-12TC[3]
|
|
|
|
NM_006545.5(NPRL2):c.68_69del (p.Ile23fs)
|
rs886037966
|
|
|
NM_006545.5(NPRL2):c.697G>A (p.Val233Met)
|
|
|
|
NM_006545.5(NPRL2):c.728A>G (p.Asn243Ser)
|
|
|
|
NM_006545.5(NPRL2):c.743C>T (p.Thr248Met)
|
|
|
|
NM_006545.5(NPRL2):c.865_871del (p.Ser289fs)
|
rs2109364484
|
|
|
NM_006545.5(NPRL2):c.883C>T (p.Arg295Ter)
|
rs886037964
|
|
|
NM_006545.5(NPRL2):c.907del (p.Gln303fs)
|
|
|
|
NM_006545.5(NPRL2):c.911A>C (p.Gln304Pro)
|
|
|
|
NM_006545.5(NPRL2):c.932+1G>A
|
rs1703621639
|
|
|
NM_006545.5(NPRL2):c.932G>A (p.Arg311Gln)
|
|
|
|
NM_006922.3(SCN3A):c.742T>C (p.Ser248Pro)
|
rs2105890565
|
|
|
NM_006922.4(SCN3A):c.-50-2312T>C
|
rs1690638367
|
|
|
NM_006922.4(SCN3A):c.127_129del (p.Asn43del)
|
rs72471101
|
|
|
NM_006922.4(SCN3A):c.137A>C (p.Glu46Ala)
|
rs1159568725
|
|
|
NM_006922.4(SCN3A):c.1580A>C (p.Glu527Ala)
|
rs1688370923
|
|
|
NM_006922.4(SCN3A):c.1663C>A (p.Pro555Thr)
|
rs2105833109
|
|
|
NM_006922.4(SCN3A):c.1970T>C (p.Val657Ala)
|
rs922985729
|
|
|
NM_006922.4(SCN3A):c.2017G>T (p.Glu673Ter)
|
|
|
|
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr)
|
rs1057518801
|
|
|
NM_006922.4(SCN3A):c.3092T>A (p.Phe1031Tyr)
|
rs1687091780
|
|
|
NM_006922.4(SCN3A):c.3133A>G (p.Ile1045Val)
|
rs894700711
|
|
|
NM_006922.4(SCN3A):c.3232A>G (p.Ser1078Gly)
|
rs1060500006
|
|
|
NM_006922.4(SCN3A):c.3265G>C (p.Asp1089His)
|
rs1574158109
|
|
|
NM_006922.4(SCN3A):c.3499G>A (p.Ala1167Thr)
|
rs1259561654
|
|
|
NM_006922.4(SCN3A):c.3629C>T (p.Thr1210Ile)
|
rs2105710443
|
|
|
NM_006922.4(SCN3A):c.3683T>C (p.Ile1228Thr)
|
|
|
|
NM_006922.4(SCN3A):c.3989G>A (p.Gly1330Glu)
|
rs1060500003
|
|
|
NM_006922.4(SCN3A):c.5047G>T (p.Glu1683Ter)
|
|
|
|
NM_006922.4(SCN3A):c.5295G>A (p.Met1765Ile)
|
rs2105619771
|
|
|
NM_006922.4(SCN3A):c.5734A>C (p.Arg1912=)
|
rs1553517046
|
|
|
NM_006922.4(SCN3A):c.5947A>C (p.Lys1983Gln)
|
rs774354894
|
|
|
NM_006922.4(SCN3A):c.595G>A (p.Val199Met)
|
|
|
|
NM_006922.4(SCN3A):c.603-119C>T
|
|
|
|
NM_006922.4(SCN3A):c.603-3_603-2del
|
rs770371377
|
|
|
NM_007327.4(GRIN1):c.2504T>C (p.Ile835Thr)
|
rs1554770659
|
|
|
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs)
|
rs199470477
|
|
|
NM_015192.4(PLCB1):c.3382C>T (p.His1128Tyr)
|
rs1555790846
|
|
|
NM_015973.3(GAL):c.82del
|
rs1594273885
|
|
|
NM_015973.5(GAL):c.106C>T (p.Leu36=)
|
rs528520052
|
|
|
NM_015973.5(GAL):c.116C>A (p.Ala39Glu)
|
rs1057517661
|
|
|
NM_015973.5(GAL):c.16G>A (p.Ala6Thr)
|
rs760551954
|
|
|
NM_015973.5(GAL):c.177C>G (p.Gly59=)
|
rs533111349
|
|
|
NM_015973.5(GAL):c.202C>T (p.Pro68Ser)
|
rs1945870960
|
|
|
NM_015973.5(GAL):c.223+3G>C
|
rs202155593
|
|
|
NM_015973.5(GAL):c.263G>T (p.Arg88Leu)
|
rs778530092
|
|
|
NM_015973.5(GAL):c.311C>T (p.Ala104Val)
|
rs1186237607
|
|
|
NM_015973.5(GAL):c.316G>A (p.Asp106Asn)
|
rs375918368
|
|
|
NM_015973.5(GAL):c.335C>G (p.Pro112Arg)
|
rs1945899167
|
|
|
NM_015973.5(GAL):c.37C>T (p.Leu13Phe)
|
rs956379887
|
|
|
NM_015973.5(GAL):c.42C>T (p.Leu14=)
|
rs1457970164
|
|
|
NM_015973.5(GAL):c.55T>C (p.Ser19Pro)
|
rs746008445
|
|
|
NM_015973.5(GAL):c.73_81+37del
|
rs1297993483
|
|
|
NM_015973.5(GAL):c.7C>T (p.Arg3Ter)
|
rs578193461
|
|
|
NM_015973.5(GAL):c.81+8C>T
|
rs1945837611
|
|
|
NM_015973.5(GAL):c.91A>G (p.Lys31Glu)
|
rs1945844204
|
|
|
NM_015973.5(GAL):c.9A>C (p.Arg3=)
|
rs539085763
|
|
|
NM_017570.5(OPLAH):c.82G>A (p.Gly28Arg)
|
rs1564295049
|
|
|
NM_018023.5(YEATS2):c.1671G>C (p.Leu557Phe)
|
|
|
|
NM_018023.5(YEATS2):c.1947+46_1947+48del
|
rs3830564
|
|
|
NM_018023.5(YEATS2):c.2412AGG[8] (p.Gly814del)
|
rs146705467
|
|
|
NM_018023.5(YEATS2):c.292-27T>C
|
rs116502703
|
|
|
NM_018023.5(YEATS2):c.4087G>A (p.Ala1363Thr)
|
rs2108544825
|
|
|
NM_018023.5(YEATS2):c.444C>G (p.Asp148Glu)
|
rs1716550954
|
|
|
NM_018100.3(EFHC1):c.-148_-147GC[1]
|
rs796720054
|
|
|
NM_018100.3(EFHC1):c.[229C>A;662G>A]
|
|
|
|
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.*1025AT[9]
|
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.*1325dup
|
rs35994917
|
|
|
NM_018100.4(EFHC1):c.*140C>T
|
rs78906153
|
|
|
NM_018100.4(EFHC1):c.*1481TC[1]
|
rs886061636
|
|
|
NM_018100.4(EFHC1):c.*1749_*1750insAC
|
rs58779695
|
|
|
NM_018100.4(EFHC1):c.*1813dup
|
rs201262358
|
|
|
NM_018100.4(EFHC1):c.*2913G>C
|
rs886061639
|
|
|
NM_018100.4(EFHC1):c.*392A>C
|
rs9463792
|
|
|
NM_018100.4(EFHC1):c.*549TA[3]
|
rs886061631
|
|
|
NM_018100.4(EFHC1):c.*66C>G
|
rs574373324
|
|
|
NM_018100.4(EFHC1):c.1004T>G (p.Leu335Arg)
|
rs1231287887
|
|
|
NM_018100.4(EFHC1):c.1061A>G (p.Tyr354Cys)
|
rs533695444
|
|
|
NM_018100.4(EFHC1):c.1088A>G (p.Asp363Gly)
|
rs1765271296
|
|
|
NM_018100.4(EFHC1):c.1091_1092insGGTATTACCTGATTTGGTAATTTGGTAATTACTGATTTGGTAATTTGGAATT (p.Leu364_Pro365insValLeuProAspLeuValIleTrpTer)
|
rs1765271672
|
|
|
NM_018100.4(EFHC1):c.1117G>T (p.Glu373Ter)
|
rs1765273374
|
|
|
NM_018100.4(EFHC1):c.1138-4C>G
|
rs777292013
|
|
|
NM_018100.4(EFHC1):c.1138-6C>T
|
rs932580766
|
|
|
NM_018100.4(EFHC1):c.1144C>T (p.Pro382Ser)
|
rs566874147
|
|
|
NM_018100.4(EFHC1):c.1171del (p.Glu391fs)
|
rs1218368055
|
|
|
NM_018100.4(EFHC1):c.1180G>A (p.Ala394Thr)
|
rs1562458726
|
|
|
NM_018100.4(EFHC1):c.1197T>C (p.Ala399=)
|
rs886061630
|
|
|
NM_018100.4(EFHC1):c.1221dup (p.Asp408fs)
|
rs754483740
|
|
|
NM_018100.4(EFHC1):c.1228A>G (p.Ile410Val)
|
rs1765386430
|
|
|
NM_018100.4(EFHC1):c.1270G>A (p.Ala424Thr)
|
rs796052418
|
|
|
NM_018100.4(EFHC1):c.1286C>T (p.Pro429Leu)
|
rs1765607722
|
|
|
NM_018100.4(EFHC1):c.1293A>C (p.Pro431=)
|
rs1554261597
|
|
|
NM_018100.4(EFHC1):c.1300A>G (p.Lys434Glu)
|
rs771316611
|
|
|
NM_018100.4(EFHC1):c.1309A>G (p.Arg437Gly)
|
rs776277918
|
|
|
NM_018100.4(EFHC1):c.134T>C (p.Val45Ala)
|
rs1764249661
|
|
|
NM_018100.4(EFHC1):c.1355T>C (p.Phe452Ser)
|
rs1765610593
|
|
|
NM_018100.4(EFHC1):c.1363C>T (p.Pro455Ser)
|
rs1765610823
|
|
|
NM_018100.4(EFHC1):c.1365T>C (p.Pro455=)
|
rs1581846971
|
|
|
NM_018100.4(EFHC1):c.1370G>A (p.Arg457His)
|
rs369468811
|
|
|
NM_018100.4(EFHC1):c.1391G>C (p.Gly464Ala)
|
rs2114023582
|
|
|
NM_018100.4(EFHC1):c.145G>A (p.Gly49Arg)
|
rs760025678
|
|
|
NM_018100.4(EFHC1):c.1527C>T (p.Asp509=)
|
rs368238981
|
|
|
NM_018100.4(EFHC1):c.1546A>C (p.Met516Leu)
|
rs768684304
|
|
|
NM_018100.4(EFHC1):c.1548G>A (p.Met516Ile)
|
rs973650043
|
|
|
NM_018100.4(EFHC1):c.1549G>T (p.Glu517Ter)
|
rs1765630267
|
|
|
NM_018100.4(EFHC1):c.1549_1559delinsTTTTGAAATACA (p.Glu517_Ala520delinsPheTer)
|
rs1554261668
|
|
|
NM_018100.4(EFHC1):c.1560T>C (p.Ala520=)
|
rs1199507059
|
|
|
NM_018100.4(EFHC1):c.1562C>G (p.Ala521Gly)
|
rs766675010
|
|
|
NM_018100.4(EFHC1):c.1563C>G (p.Ala521=)
|
rs2114024468
|
|
|
NM_018100.4(EFHC1):c.1574C>T (p.Pro525Leu)
|
rs1433410236
|
|
|
NM_018100.4(EFHC1):c.1606C>T (p.Arg536Ter)
|
rs779990464
|
|
|
NM_018100.4(EFHC1):c.1607G>A (p.Arg536Gln)
|
rs867304706
|
|
|
NM_018100.4(EFHC1):c.1607G>C (p.Arg536Pro)
|
rs867304706
|
|
|
NM_018100.4(EFHC1):c.1618G>A (p.Ala540Thr)
|
rs1765633745
|
|
|
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.1640+3G>T
|
rs1581847690
|
|
|
NM_018100.4(EFHC1):c.1641-6C>G
|
rs1554262183
|
|
|
NM_018100.4(EFHC1):c.165C>G (p.Asn55Lys)
|
rs928396576
|
|
|
NM_018100.4(EFHC1):c.1663G>A (p.Gly555Ser)
|
rs1581854254
|
|
|
NM_018100.4(EFHC1):c.1666G>A (p.Val556Met)
|
rs772265107
|
|
|
NM_018100.4(EFHC1):c.1699C>T (p.Gln567Ter)
|
rs1765867667
|
|
|
NM_018100.4(EFHC1):c.1739G>C (p.Arg580Pro)
|
rs752701116
|
|
|
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.1776A>G (p.Gly592=)
|
rs1581854375
|
|
|
NM_018100.4(EFHC1):c.1786A>G (p.Arg596Gly)
|
rs1765870228
|
|
|
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.1863G>A (p.Met621Ile)
|
rs2114039449
|
|
|
NM_018100.4(EFHC1):c.1866C>T (p.Cys622=)
|
rs1554262324
|
|
|
NM_018100.4(EFHC1):c.1879G>A (p.Gly627Ser)
|
rs758464930
|
|
|
NM_018100.4(EFHC1):c.1886T>G (p.Ile629Ser)
|
rs199604518
|
|
|
NM_018100.4(EFHC1):c.194T>C (p.Leu65Ser)
|
rs757990962
|
|
|
NM_018100.4(EFHC1):c.206C>T (p.Ala69Val)
|
rs1764251712
|
|
|
NM_018100.4(EFHC1):c.21T>A (p.His7Gln)
|
rs775530837
|
|
|
NM_018100.4(EFHC1):c.21T>G (p.His7Gln)
|
rs775530837
|
|
|
NM_018100.4(EFHC1):c.226C>T (p.Gln76Ter)
|
rs11552772
|
|
|
NM_018100.4(EFHC1):c.227A>G (p.Gln76Arg)
|
rs1764252445
|
|
|
NM_018100.4(EFHC1):c.237A>T (p.Gln79His)
|
rs2113966975
|
|
|
NM_018100.4(EFHC1):c.241C>T (p.Pro81Ser)
|
rs1562442253
|
|
|
NM_018100.4(EFHC1):c.277G>C (p.Asp93His)
|
rs1764254615
|
|
|
NM_018100.4(EFHC1):c.28C>G (p.Pro10Ala)
|
rs1764162488
|
|
|
NM_018100.4(EFHC1):c.336G>A (p.Glu112=)
|
rs1764580689
|
|
|
NM_018100.4(EFHC1):c.364_369del (p.Ile122_Tyr123del)
|
rs1764582038
|
|
|
NM_018100.4(EFHC1):c.371A>G (p.Tyr124Cys)
|
rs757440981
|
|
|
NM_018100.4(EFHC1):c.378A>G (p.Leu126=)
|
rs2113979351
|
|
|
NM_018100.4(EFHC1):c.379G>C (p.Glu127Gln)
|
rs1554258778
|
|
|
NM_018100.4(EFHC1):c.388A>G (p.Ser130Gly)
|
rs1481620865
|
|
|
NM_018100.4(EFHC1):c.40G>A (p.Gly14Ser)
|
rs1554257650
|
|
|
NM_018100.4(EFHC1):c.452G>T (p.Arg151Leu)
|
rs191656603
|
|
|
NM_018100.4(EFHC1):c.475C>G (p.Arg159Gly)
|
rs3804506
|
|
|
NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp)
|
rs3804506
|
|
|
NM_018100.4(EFHC1):c.490C>T (p.His164Tyr)
|
rs995402027
|
|
|
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.530A>T (p.Tyr177Phe)
|
rs1764588785
|
|
|
NM_018100.4(EFHC1):c.558_559del (p.Cys186_Asp187delinsTer)
|
rs1562447137
|
|
|
NM_018100.4(EFHC1):c.583G>C (p.Glu195Gln)
|
|
|
|
NM_018100.4(EFHC1):c.595A>G (p.Ile199Val)
|
rs759793242
|
|
|
NM_018100.4(EFHC1):c.598G>C (p.Glu200Gln)
|
rs767704811
|
|
|
NM_018100.4(EFHC1):c.602T>G (p.Leu201Ter)
|
rs1764941998
|
|
|
NM_018100.4(EFHC1):c.637A>G (p.Thr213Ala)
|
rs201379297
|
|
|
NM_018100.4(EFHC1):c.666_671del (p.Lys222_Val224delinsAsn)
|
rs886061628
|
|
|
NM_018100.4(EFHC1):c.666_674delinsAAG (p.Tyr223_Thr225delinsSer)
|
rs1554259746
|
|
|
NM_018100.4(EFHC1):c.672C>A (p.Val224=)
|
|
|
|
NM_018100.4(EFHC1):c.678A>T (p.Pro226=)
|
rs1060504898
|
|
|
NM_018100.4(EFHC1):c.682_692del (p.Asp228fs)
|
rs775980459
|
|
|
NM_018100.4(EFHC1):c.710C>A (p.Thr237Asn)
|
rs765821468
|
|
|
NM_018100.4(EFHC1):c.723+106C>T
|
rs190021570
|
|
|
NM_018100.4(EFHC1):c.723+18_723+19insG
|
rs1581829739
|
|
|
NM_018100.4(EFHC1):c.723+66del
|
rs142210037
|
|
|
NM_018100.4(EFHC1):c.749A>T (p.Asp250Val)
|
rs1562453181
|
|
|
NM_018100.4(EFHC1):c.755C>G (p.Thr252Arg)
|
rs747450415
|
|
|
NM_018100.4(EFHC1):c.757G>A (p.Asp253Asn)
|
rs137852778
|
|
|
NM_018100.4(EFHC1):c.800A>G (p.Tyr267Cys)
|
rs886061629
|
|
|
NM_018100.4(EFHC1):c.810T>G (p.Asp270Glu)
|
rs796052413
|
|
|
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.847G>A (p.Asp283Asn)
|
rs1284999394
|
|
|
NM_018100.4(EFHC1):c.879C>G (p.Asn293Lys)
|
rs1562453330
|
|
|
NM_018100.4(EFHC1):c.883C>T (p.Gln295Ter)
|
rs137852781
|
|
|
NM_018100.4(EFHC1):c.915A>G (p.Ala305=)
|
rs1060503381
|
|
|
NM_018100.4(EFHC1):c.917-6T>C
|
|
|
|
NM_018100.4(EFHC1):c.917-7A>G
|
rs1266698847
|
|
|
NM_018723.4(RBFOX1):c.979_984del (p.Ala327_Ala328del)
|
rs974157467
|
|
|
NM_018896.5(CACNA1G):c.3315C>A (p.Ser1105Arg)
|
rs1216562585
|
|
|
NM_018896.5(CACNA1G):c.6508T>A (p.Trp2170Arg)
|
|
|
|
NM_018941.4(CLN8):c.374A>T (p.Asn125Ile)
|
rs142269885
|
|
|
NM_018941.4(CLN8):c.46C>A (p.Leu16Met)
|
rs386834129
|
|
|
NM_018941.4(CLN8):c.70C>G (p.Arg24Gly)
|
rs104894064
|
|
|
NM_018941.4(CLN8):c.782T>C (p.Val261Ala)
|
|
|
|
NM_018941.4(CLN8):c.94T>G (p.Phe32Val)
|
rs758068226
|
|
|
NM_018941.4(CLN8):c.98T>C (p.Val33Ala)
|
rs1301388199
|
|
|
NM_020151.3(STARD7):c.291-1572_291-1518ATTTT[376]ATTTC[274]
|
|
|
|
NM_020151.4(STARD7):c.175G>T (p.Gly59Cys)
|
rs1436909374
|
|
|
NM_020151.4(STARD7):c.542A>G (p.Asn181Ser)
|
|
|
|
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.1007A>G (p.Tyr336Cys)
|
|
|
|
NM_020361.5(CPA6):c.1096T>C (p.Tyr366His)
|
rs1809934047
|
|
|
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.117-25562dup
|
rs996734526
|
|
|
NM_020361.5(CPA6):c.1294C>A (p.Leu432Met)
|
rs569889471
|
|
|
NM_020361.5(CPA6):c.192+29464G>T
|
rs2128981874
|
|
|
NM_020361.5(CPA6):c.20G>A (p.Arg7His)
|
rs373565150
|
|
|
NM_020361.5(CPA6):c.20G>T (p.Arg7Leu)
|
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.619C>T (p.Gln207Ter)
|
rs35993949
|
|
|
NM_020361.5(CPA6):c.715A>G (p.Asn239Asp)
|
rs886063079
|
|
|
NM_020361.5(CPA6):c.757T>G (p.Trp253Gly)
|
rs781369203
|
|
|
NM_020361.5(CPA6):c.797G>T (p.Arg266Leu)
|
rs140612122
|
|
|
NM_020361.5(CPA6):c.994T>C (p.Tyr332His)
|
rs1554662194
|
|
|
NM_020822.3(KCNT1):c.1003A>T (p.Ile335Phe)
|
|
|
|
NM_020822.3(KCNT1):c.1009G>A (p.Val337Met)
|
|
|
|
NM_020822.3(KCNT1):c.1011G>A (p.Val337=)
|
rs1831789283
|
|
|
NM_020822.3(KCNT1):c.1017C>T (p.Leu339=)
|
|
|
|
NM_020822.3(KCNT1):c.1018G>A (p.Val340Met)
|
rs558837964
|
|
|
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+1G>A
|
rs778538243
|
|
|
NM_020822.3(KCNT1):c.1035+20G>A
|
|
|
|
NM_020822.3(KCNT1):c.1035+22_1035+37dup
|
|
|
|
NM_020822.3(KCNT1):c.1036-3C>T
|
|
|
|
NM_020822.3(KCNT1):c.1036-8del
|
rs766451840
|
|
|
NM_020822.3(KCNT1):c.1036-9C>T
|
|
|
|
NM_020822.3(KCNT1):c.1038C>A (p.Phe346Leu)
|
rs767434859
|
|
|
NM_020822.3(KCNT1):c.1038C>G (p.Phe346Leu)
|
rs767434859
|
|
|
NM_020822.3(KCNT1):c.1039G>A (p.Glu347Lys)
|
|
|
|
NM_020822.3(KCNT1):c.103G>A (p.Ala35Thr)
|
|
|
|
NM_020822.3(KCNT1):c.1048G>A (p.Val350Ile)
|
|
|
|
NM_020822.3(KCNT1):c.1049T>C (p.Val350Ala)
|
rs1329791962
|
|
|
NM_020822.3(KCNT1):c.104C>A (p.Ala35Asp)
|
|
|
|
NM_020822.3(KCNT1):c.1054C>G (p.Leu352Val)
|
|
|
|
NM_020822.3(KCNT1):c.1059G>C (p.Trp353Cys)
|
|
|
|
NM_020822.3(KCNT1):c.1060A>G (p.Met354Val)
|
rs2131473380
|
|
|
NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp)
|
rs752514808
|
|
|
NM_020822.3(KCNT1):c.1069C>G (p.Gln357Glu)
|
|
|
|
NM_020822.3(KCNT1):c.107C>T (p.Pro36Leu)
|
|
|
|
NM_020822.3(KCNT1):c.1081G>A (p.Gly361Ser)
|
|
|
|
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.1093C>A (p.Arg365Ser)
|
|
|
|
NM_020822.3(KCNT1):c.1094G>A (p.Arg365His)
|
|
|
|
NM_020822.3(KCNT1):c.1094G>T (p.Arg365Leu)
|
|
|
|
NM_020822.3(KCNT1):c.1099C>T (p.Arg367Cys)
|
|
|
|
NM_020822.3(KCNT1):c.110+16C>A
|
|
|
|
NM_020822.3(KCNT1):c.110+3dup
|
|
|
|
NM_020822.3(KCNT1):c.110+7T>A
|
|
|
|
NM_020822.3(KCNT1):c.110+9T>G
|
|
|
|
NM_020822.3(KCNT1):c.1100G>A (p.Arg367His)
|
|
|
|
NM_020822.3(KCNT1):c.1102G>T (p.Ala368Ser)
|
|
|
|
NM_020822.3(KCNT1):c.110_110+24delinsTTGACGACGGCCCCATTGACGACGGCCAATG
|
|
|
|
NM_020822.3(KCNT1):c.111-11dup
|
|
|
|
NM_020822.3(KCNT1):c.111-12G>C
|
rs768967168
|
|
|
NM_020822.3(KCNT1):c.111-15G>A
|
|
|
|
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.1115A>G (p.Lys372Arg)
|
rs2131473824
|
|
|
NM_020822.3(KCNT1):c.1128G>A (p.Leu376=)
|
|
|
|
NM_020822.3(KCNT1):c.112C>G (p.Arg38Gly)
|
rs1588255201
|
|
|
NM_020822.3(KCNT1):c.1132_1133del (p.Val378fs)
|
rs2131473970
|
|
|
NM_020822.3(KCNT1):c.1136G>A (p.Ser379Asn)
|
rs1481122214
|
|
|
NM_020822.3(KCNT1):c.113G>T (p.Arg38Leu)
|
|
|
|
NM_020822.3(KCNT1):c.1150G>T (p.Asp384Tyr)
|
|
|
|
NM_020822.3(KCNT1):c.1155T>C (p.Leu385=)
|
rs756900818
|
|
|
NM_020822.3(KCNT1):c.1161G>A (p.Met387Ile)
|
rs1832172453
|
|
|
NM_020822.3(KCNT1):c.1174G>A (p.Glu392Lys)
|
rs780708628
|
|
|
NM_020822.3(KCNT1):c.1179C>A (p.Phe393Leu)
|
rs1832174053
|
|
|
NM_020822.3(KCNT1):c.1186C>T (p.His396Tyr)
|
rs1588343193
|
|
|
NM_020822.3(KCNT1):c.1189C>T (p.Pro397Ser)
|
rs2131474528
|
|
|
NM_020822.3(KCNT1):c.118T>C (p.Cys40Arg)
|
|
|
|
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln)
|
rs397515407
|
|
|
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+12_1200+13delinsGC
|
|
|
|
NM_020822.3(KCNT1):c.1200+5G>A
|
|
|
|
NM_020822.3(KCNT1):c.1200+8C>G
|
|
|
|
NM_020822.3(KCNT1):c.1200G>T (p.Gln400His)
|
|
|
|
NM_020822.3(KCNT1):c.1201-17C>G
|
|
|
|
NM_020822.3(KCNT1):c.1201-4G>A
|
rs2131477231
|
|
|
NM_020822.3(KCNT1):c.1208A>G (p.Tyr403Cys)
|
rs2131477259
|
|
|
NM_020822.3(KCNT1):c.1215C>A (p.Val405=)
|
|
|
|
NM_020822.3(KCNT1):c.1224C>A (p.Cys408Ter)
|
|
|
|
NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser)
|
rs1588344733
|
|
|
NM_020822.3(KCNT1):c.1226C>T (p.Pro409Leu)
|
rs1064794752
|
|
|
NM_020822.3(KCNT1):c.1233G>C (p.Glu411Asp)
|
|
|
|
NM_020822.3(KCNT1):c.1234A>G (p.Met412Val)
|
rs988871689
|
|
|
NM_020822.3(KCNT1):c.1234A>T (p.Met412Leu)
|
|
|
|
NM_020822.3(KCNT1):c.1236G>A (p.Met412Ile)
|
rs2131477505
|
|
|
NM_020822.3(KCNT1):c.1237G>A (p.Asp413Asn)
|
rs2131477515
|
|
|
NM_020822.3(KCNT1):c.123G>A (p.Ala41=)
|
rs1352859989
|
|
|
NM_020822.3(KCNT1):c.1245G>C (p.Gln415His)
|
|
|
|
NM_020822.3(KCNT1):c.1249C>G (p.Arg417Gly)
|
|
|
|
NM_020822.3(KCNT1):c.1250G>A (p.Arg417His)
|
rs745965148
|
|
|
NM_020822.3(KCNT1):c.1251C>G (p.Arg417=)
|
|
|
|
NM_020822.3(KCNT1):c.1254A>C (p.Arg418Ser)
|
rs1440098446
|
|
|
NM_020822.3(KCNT1):c.1260_1269dup (p.Leu424fs)
|
|
|
|
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.1275G>A (p.Trp425Ter)
|
|
|
|
NM_020822.3(KCNT1):c.1281G>T (p.Gln427His)
|
|
|
|
NM_020822.3(KCNT1):c.1282C>T (p.Arg428Trp)
|
rs373755663
|
|
|
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
|
|
|
|
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.1300G>A (p.Gly434Ser)
|
|
|
|
NM_020822.3(KCNT1):c.1306G>A (p.Ala436Thr)
|
rs1832220041
|
|
|
NM_020822.3(KCNT1):c.1309C>A (p.Leu437Ile)
|
rs1057518066
|
|
|
NM_020822.3(KCNT1):c.1309C>T (p.Leu437Phe)
|
rs1057518066
|
|
|
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.1323C>A (p.Asp441Glu)
|
|
|
|
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.1330C>T (p.Arg444Ter)
|
|
|
|
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.1338-2A>C
|
|
|
|
NM_020822.3(KCNT1):c.1342G>C (p.Asp448His)
|
|
|
|
NM_020822.3(KCNT1):c.1347T>A (p.Asn449Lys)
|
|
|
|
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.136C>T (p.Leu46Phe)
|
rs869312682
|
|
|
NM_020822.3(KCNT1):c.1373G>A (p.Ser458Asn)
|
|
|
|
NM_020822.3(KCNT1):c.1390C>T (p.Arg464Cys)
|
rs1564367281
|
|
|
NM_020822.3(KCNT1):c.1394C>A (p.Thr465Lys)
|
rs539139475
|
|
|
NM_020822.3(KCNT1):c.1396G>A (p.Ala466Thr)
|
rs1832501333
|
|
|
NM_020822.3(KCNT1):c.1399G>A (p.Ala467Thr)
|
|
|
|
NM_020822.3(KCNT1):c.139C>T (p.Leu47=)
|
rs2131329270
|
|
|
NM_020822.3(KCNT1):c.1401+17C>T
|
|
|
|
NM_020822.3(KCNT1):c.1401+6_1401+9del
|
|
|
|
NM_020822.3(KCNT1):c.1401+7G>A
|
rs2131496908
|
|
|
NM_020822.3(KCNT1):c.1401A>G (p.Ala467=)
|
|
|
|
NM_020822.3(KCNT1):c.1402-13C>T
|
|
|
|
NM_020822.3(KCNT1):c.1402-6C>G
|
|
|
|
NM_020822.3(KCNT1):c.1402-7C>G
|
|
|
|
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.1420C>T (p.Arg474Cys)
|
rs866242631
|
|
|
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
|
|
|
|
NM_020822.3(KCNT1):c.1429G>A (p.Ala477Thr)
|
rs1564367605
|
|
|
NM_020822.3(KCNT1):c.1432G>A (p.Val478Met)
|
|
|
|
NM_020822.3(KCNT1):c.1440C>T (p.Asp480=)
|
rs2131497788
|
|
|
NM_020822.3(KCNT1):c.1448C>G (p.Pro483Arg)
|
|
|
|
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.1490A>G (p.Lys497Arg)
|
rs1245114972
|
|
|
NM_020822.3(KCNT1):c.1505T>C (p.Phe502Ser)
|
|
|
|
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+3G>A
|
rs1832520059
|
|
|
NM_020822.3(KCNT1):c.1510+5G>A
|
|
|
|
NM_020822.3(KCNT1):c.1510+8T>C
|
|
|
|
NM_020822.3(KCNT1):c.1510+8T>G
|
|
|
|
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>G
|
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.151G>A (p.Gly51Ser)
|
|
|
|
NM_020822.3(KCNT1):c.1525GAG[2] (p.Glu511del)
|
|
|
|
NM_020822.3(KCNT1):c.152G>C (p.Gly51Ala)
|
rs1554763393
|
|
|
NM_020822.3(KCNT1):c.1534T>C (p.Cys512Arg)
|
rs1832635534
|
|
|
NM_020822.3(KCNT1):c.1540_1543dup (p.Ala515fs)
|
|
|
|
NM_020822.3(KCNT1):c.1546A>G (p.Met516Val)
|
rs886041691
|
|
|
NM_020822.3(KCNT1):c.1568_1585dup (p.Thr528_Leu529insArgProAlaThrSerThr)
|
|
|
|
NM_020822.3(KCNT1):c.1571C>T (p.Pro524Leu)
|
|
|
|
NM_020822.3(KCNT1):c.1585C>G (p.Leu529Val)
|
|
|
|
NM_020822.3(KCNT1):c.1596G>A (p.Leu532=)
|
|
|
|
NM_020822.3(KCNT1):c.15C>G (p.Asp5Glu)
|
|
|
|
NM_020822.3(KCNT1):c.1602G>A (p.Val534=)
|
rs2131505379
|
|
|
NM_020822.3(KCNT1):c.1609T>A (p.Ser537Thr)
|
|
|
|
NM_020822.3(KCNT1):c.1610C>A (p.Ser537Tyr)
|
|
|
|
NM_020822.3(KCNT1):c.1611C>G (p.Ser537=)
|
rs2131505461
|
|
|
NM_020822.3(KCNT1):c.1612C>A (p.Arg538Ser)
|
|
|
|
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+5G>A
|
|
|
|
NM_020822.3(KCNT1):c.1619+5GTGCCCC[3]
|
rs573524284
|
|
|
NM_020822.3(KCNT1):c.1619+6T>A
|
rs1328836350
|
|
|
NM_020822.3(KCNT1):c.1620-10_1620-5dup
|
rs754045989
|
|
|
NM_020822.3(KCNT1):c.1620-12C>T
|
|
|
|
NM_020822.3(KCNT1):c.1620-14_1620-4dup
|
|
|
|
NM_020822.3(KCNT1):c.1620-15C>G
|
|
|
|
NM_020822.3(KCNT1):c.1620-15_1620-5del
|
rs761464076
|
|
|
NM_020822.3(KCNT1):c.1620-3C>T
|
|
|
|
NM_020822.3(KCNT1):c.1620-9G>C
|
|
|
|
NM_020822.3(KCNT1):c.1621G>A (p.Glu541Lys)
|
rs753040489
|
|
|
NM_020822.3(KCNT1):c.162G>T (p.Met54Ile)
|
rs2131329345
|
|
|
NM_020822.3(KCNT1):c.1636C>G (p.Pro546Ala)
|
rs894604084
|
|
|
NM_020822.3(KCNT1):c.1645T>G (p.Trp549Gly)
|
rs1564370162
|
|
|
NM_020822.3(KCNT1):c.1651C>T (p.Arg551Cys)
|
rs749316999
|
|
|
NM_020822.3(KCNT1):c.1652G>A (p.Arg551His)
|
rs567764094
|
|
|
NM_020822.3(KCNT1):c.1653C>T (p.Arg551=)
|
rs1832666302
|
|
|
NM_020822.3(KCNT1):c.1654A>G (p.Met552Val)
|
rs2131507644
|
|
|
NM_020822.3(KCNT1):c.165C>T (p.Ser55=)
|
|
|
|
NM_020822.3(KCNT1):c.1672G>T (p.Gly558Cys)
|
rs1564370223
|
|
|
NM_020822.3(KCNT1):c.1675A>C (p.Asn559His)
|
|
|
|
NM_020822.3(KCNT1):c.1678G>A (p.Glu560Lys)
|
rs765969410
|
|
|
NM_020822.3(KCNT1):c.1683G>A (p.Val561=)
|
rs1253303573
|
|
|
NM_020822.3(KCNT1):c.1684T>C (p.Tyr562His)
|
|
|
|
NM_020822.3(KCNT1):c.1685A>G (p.Tyr562Cys)
|
rs1832668143
|
|
|
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.1693C>T (p.Arg565Cys)
|
|
|
|
NM_020822.3(KCNT1):c.1695C>A (p.Arg565=)
|
rs553208215
|
|
|
NM_020822.3(KCNT1):c.1695C>T (p.Arg565=)
|
|
|
|
NM_020822.3(KCNT1):c.1696A>G (p.Met566Val)
|
rs1832669452
|
|
|
NM_020822.3(KCNT1):c.1697T>C (p.Met566Thr)
|
rs1832669667
|
|
|
NM_020822.3(KCNT1):c.1698_1699delinsTA (p.Met566_Gly567delinsIleSer)
|
rs1554774874
|
|
|
NM_020822.3(KCNT1):c.16G>C (p.Gly6Arg)
|
rs773874266
|
|
|
NM_020822.3(KCNT1):c.1703A>G (p.Asp568Gly)
|
|
|
|
NM_020822.3(KCNT1):c.1704C>T (p.Asp568=)
|
|
|
|
NM_020822.3(KCNT1):c.1713C>T (p.Phe571=)
|
|
|
|
NM_020822.3(KCNT1):c.1719C>T (p.Arg573=)
|
|
|
|
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.1742C>T (p.Thr581Ile)
|
|
|
|
NM_020822.3(KCNT1):c.1745A>G (p.Tyr582Cys)
|
rs1832673206
|
|
|
NM_020822.3(KCNT1):c.1748C>G (p.Ala583Gly)
|
rs1554774904
|
|
|
NM_020822.3(KCNT1):c.1748C>T (p.Ala583Val)
|
rs1554774904
|
|
|
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.1758C>A (p.His586Gln)
|
rs142760483
|
|
|
NM_020822.3(KCNT1):c.1760C>T (p.Ala587Val)
|
rs2131508404
|
|
|
NM_020822.3(KCNT1):c.1762C>T (p.His588Tyr)
|
|
|
|
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+6G>A
|
rs927454585
|
|
|
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.1770-3C>T
|
|
|
|
NM_020822.3(KCNT1):c.1770-7T>C
|
|
|
|
NM_020822.3(KCNT1):c.1770-7_1785dup
|
|
|
|
NM_020822.3(KCNT1):c.1777G>C (p.Val593Leu)
|
|
|
|
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.1788C>G (p.Ile596Met)
|
|
|
|
NM_020822.3(KCNT1):c.1789G>A (p.Gly597Arg)
|
|
|
|
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.1806CAA[1] (p.Asn603del)
|
rs752708934
|
|
|
NM_020822.3(KCNT1):c.1809C>A (p.Asn603Lys)
|
|
|
|
NM_020822.3(KCNT1):c.1811A>C (p.Lys604Thr)
|
|
|
|
NM_020822.3(KCNT1):c.1815C>A (p.Ser605Arg)
|
rs113201678
|
|
|
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.1828C>A (p.Pro610Thr)
|
|
|
|
NM_020822.3(KCNT1):c.1830G>A (p.Pro610=)
|
rs780892917
|
|
|
NM_020822.3(KCNT1):c.1830G>C (p.Pro610=)
|
rs780892917
|
|
|
NM_020822.3(KCNT1):c.1831G>C (p.Gly611Arg)
|
|
|
|
NM_020822.3(KCNT1):c.1833del (p.Arg613fs)
|
rs1832711486
|
|
|
NM_020822.3(KCNT1):c.1839G>T (p.Arg613=)
|
|
|
|
NM_020822.3(KCNT1):c.183G>A (p.Val61=)
|
|
|
|
NM_020822.3(KCNT1):c.1852G>C (p.Ala618Pro)
|
|
|
|
NM_020822.3(KCNT1):c.1853C>T (p.Ala618Val)
|
rs1832713510
|
|
|
NM_020822.3(KCNT1):c.1860C>T (p.Asp620=)
|
|
|
|
NM_020822.3(KCNT1):c.1862C>A (p.Thr621Asn)
|
rs151006970
|
|
|
NM_020822.3(KCNT1):c.1862C>T (p.Thr621Ile)
|
rs151006970
|
|
|
NM_020822.3(KCNT1):c.1870T>C (p.Tyr624His)
|
rs1832714833
|
|
|
NM_020822.3(KCNT1):c.1873A>G (p.Ile625Val)
|
|
|
|
NM_020822.3(KCNT1):c.1874T>A (p.Ile625Asn)
|
|
|
|
NM_020822.3(KCNT1):c.1881C>T (p.Ile627=)
|
rs1554775088
|
|
|
NM_020822.3(KCNT1):c.1885A>G (p.Lys629Glu)
|
rs1057522978
|
|
|
NM_020822.3(KCNT1):c.188C>T (p.Pro63Leu)
|
|
|
|
NM_020822.3(KCNT1):c.1891del (p.Glu631fs)
|
rs1171823087
|
|
|
NM_020822.3(KCNT1):c.1892_1900del (p.Glu631_Ser633del)
|
rs2131511280
|
|
|
NM_020822.3(KCNT1):c.1893G>A (p.Glu631=)
|
rs2131511290
|
|
|
NM_020822.3(KCNT1):c.1898C>T (p.Ser633Leu)
|
rs377750450
|
|
|
NM_020822.3(KCNT1):c.1912A>G (p.Lys638Glu)
|
rs1832717620
|
|
|
NM_020822.3(KCNT1):c.1935G>A (p.Lys645=)
|
|
|
|
NM_020822.3(KCNT1):c.1940C>A (p.Ala647Asp)
|
rs550751778
|
|
|
NM_020822.3(KCNT1):c.1946C>G (p.Ser649Trp)
|
rs747671066
|
|
|
NM_020822.3(KCNT1):c.1950G>T (p.Gly650=)
|
|
|
|
NM_020822.3(KCNT1):c.1953G>A (p.Gln651=)
|
|
|
|
NM_020822.3(KCNT1):c.1954G>A (p.Gly652Arg)
|
rs1832720528
|
|
|
NM_020822.3(KCNT1):c.1955G>A (p.Gly652Glu)
|
rs536588045
|
|
|
NM_020822.3(KCNT1):c.1956G>T (p.Gly652=)
|
|
|
|
NM_020822.3(KCNT1):c.1957_1958insACGGGC (p.Gly652_Leu653insHisGly)
|
|
|
|
NM_020822.3(KCNT1):c.195_254+851del
|
rs1835645943
|
|
|
NM_020822.3(KCNT1):c.1963G>C (p.Glu655Gln)
|
rs770039542
|
|
|
NM_020822.3(KCNT1):c.1966G>A (p.Gly656Ser)
|
rs1832721615
|
|
|
NM_020822.3(KCNT1):c.196C>G (p.Pro66Ala)
|
|
|
|
NM_020822.3(KCNT1):c.1970C>G (p.Pro657Arg)
|
|
|
|
NM_020822.3(KCNT1):c.1975del (p.Arg659fs)
|
rs1832722657
|
|
|
NM_020822.3(KCNT1):c.1979T>C (p.Leu660Pro)
|
|
|
|
NM_020822.3(KCNT1):c.197C>T (p.Pro66Leu)
|
|
|
|
NM_020822.3(KCNT1):c.1982C>T (p.Pro661Leu)
|
rs2131511927
|
|
|
NM_020822.3(KCNT1):c.1984G>A (p.Val662Met)
|
rs757867931
|
|
|
NM_020822.3(KCNT1):c.1984G>C (p.Val662Leu)
|
|
|
|
NM_020822.3(KCNT1):c.1984G>T (p.Val662Leu)
|
rs757867931
|
|
|
NM_020822.3(KCNT1):c.198G>A (p.Pro66=)
|
|
|
|
NM_020822.3(KCNT1):c.1991G>A (p.Ser664Asn)
|
rs1832724038
|
|
|
NM_020822.3(KCNT1):c.1998C>A (p.Ile666=)
|
rs368777569
|
|
|
NM_020822.3(KCNT1):c.1999G>A (p.Ala667Thr)
|
|
|
|
NM_020822.3(KCNT1):c.1999G>T (p.Ala667Ser)
|
|
|
|
NM_020822.3(KCNT1):c.199C>T (p.Arg67Cys)
|
rs1060503698
|
|
|
NM_020822.3(KCNT1):c.2001C>T (p.Ala667=)
|
|
|
|
NM_020822.3(KCNT1):c.2008+15del
|
rs2131512215
|
|
|
NM_020822.3(KCNT1):c.2008+16C>T
|
|
|
|
NM_020822.3(KCNT1):c.2008+17G>A
|
|
|
|
NM_020822.3(KCNT1):c.2008+6C>A
|
|
|
|
NM_020822.3(KCNT1):c.2009-12G>A
|
|
|
|
NM_020822.3(KCNT1):c.2009-13G>T
|
rs1391208726
|
|
|
NM_020822.3(KCNT1):c.2009-2A>G
|
rs1318491844
|
|
|
NM_020822.3(KCNT1):c.2009-3C>T
|
rs2131520063
|
|
|
NM_020822.3(KCNT1):c.2009-7C>T
|
rs935840917
|
|
|
NM_020822.3(KCNT1):c.2011A>G (p.Thr671Ala)
|
rs1364315508
|
|
|
NM_020822.3(KCNT1):c.2013A>C (p.Thr671=)
|
|
|
|
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.2061_2066del (p.Gly691_Gly692del)
|
rs754629346
|
|
|
NM_020822.3(KCNT1):c.2064T>C (p.Gly688=)
|
|
|
|
NM_020822.3(KCNT1):c.2064_2069dup (p.Gly692_Ser693insGlyGly)
|
|
|
|
NM_020822.3(KCNT1):c.2071G>T (p.Gly691Trp)
|
|
|
|
NM_020822.3(KCNT1):c.2072G>A (p.Gly691Glu)
|
|
|
|
NM_020822.3(KCNT1):c.2084T>C (p.Leu695Pro)
|
|
|
|
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.2095A>G (p.Thr699Ala)
|
rs1832847354
|
|
|
NM_020822.3(KCNT1):c.2098G>C (p.Glu700Gln)
|
rs1554775570
|
|
|
NM_020822.3(KCNT1):c.2099_2103dup (p.Gly702fs)
|
|
|
|
NM_020822.3(KCNT1):c.20C>T (p.Ala7Val)
|
rs1044336128
|
|
|
NM_020822.3(KCNT1):c.2102A>G (p.Asn701Ser)
|
rs1588367542
|
|
|
NM_020822.3(KCNT1):c.2108C>T (p.Ser703Leu)
|
|
|
|
NM_020822.3(KCNT1):c.2109G>A (p.Ser703=)
|
rs767200583
|
|
|
NM_020822.3(KCNT1):c.2120G>A (p.Arg707Gln)
|
rs1407599692
|
|
|
NM_020822.3(KCNT1):c.2121G>A (p.Arg707=)
|
rs2131521147
|
|
|
NM_020822.3(KCNT1):c.2122C>A (p.Pro708Thr)
|
rs892635002
|
|
|
NM_020822.3(KCNT1):c.2126G>A (p.Ser709Asn)
|
|
|
|
NM_020822.3(KCNT1):c.2130C>T (p.Ile710=)
|
rs1832851605
|
|
|
NM_020822.3(KCNT1):c.2131G>A (p.Ala711Thr)
|
rs1277141686
|
|
|
NM_020822.3(KCNT1):c.2132C>T (p.Ala711Val)
|
rs1312096992
|
|
|
NM_020822.3(KCNT1):c.2137G>T (p.Val713Phe)
|
|
|
|
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.2152G>T (p.Asp718Tyr)
|
|
|
|
NM_020822.3(KCNT1):c.2166_2170del (p.Pro724fs)
|
rs1832854272
|
|
|
NM_020822.3(KCNT1):c.2168_2175dup (p.Asp726fs)
|
|
|
|
NM_020822.3(KCNT1):c.2170_2184dup (p.Pro724_Leu728dup)
|
rs757605635
|
|
|
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.2188G>A (p.Asp730Asn)
|
rs752598622
|
|
|
NM_020822.3(KCNT1):c.2190C>T (p.Asp730=)
|
rs2131521695
|
|
|
NM_020822.3(KCNT1):c.2195C>T (p.Ser732Leu)
|
rs774281111
|
|
|
NM_020822.3(KCNT1):c.2198A>G (p.Glu733Gly)
|
rs2131521801
|
|
|
NM_020822.3(KCNT1):c.2198A>T (p.Glu733Val)
|
|
|
|
NM_020822.3(KCNT1):c.2204_2206del (p.Glu735del)
|
rs1832857720
|
|
|
NM_020822.3(KCNT1):c.2206_2211del (p.Val736_Thr737del)
|
rs781600347
|
|
|
NM_020822.3(KCNT1):c.220C>T (p.Leu74=)
|
rs943048769
|
|
|
NM_020822.3(KCNT1):c.2211G>T (p.Thr737=)
|
|
|
|
NM_020822.3(KCNT1):c.2212C>T (p.Pro738Ser)
|
|
|
|
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>C (p.Asp741Ala)
|
rs756359375
|
|
|
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.2239G>A (p.Val747Ile)
|
|
|
|
NM_020822.3(KCNT1):c.2242G>T (p.Glu748Ter)
|
|
|
|
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.2243+6T>C
|
|
|
|
NM_020822.3(KCNT1):c.2244-14G>A
|
|
|
|
NM_020822.3(KCNT1):c.2244-1G>A
|
|
|
|
NM_020822.3(KCNT1):c.2244-20G>A
|
|
|
|
NM_020822.3(KCNT1):c.2248G>A (p.Val750Met)
|
rs2131534801
|
|
|
NM_020822.3(KCNT1):c.2268C>A (p.Asn756Lys)
|
|
|
|
NM_020822.3(KCNT1):c.2280C>T (p.Ile760=)
|
rs370521183
|
|
|
NM_020822.3(KCNT1):c.2291C>T (p.Pro764Leu)
|
rs1833087099
|
|
|
NM_020822.3(KCNT1):c.2296C>T (p.Leu766=)
|
rs2131535193
|
|
|
NM_020822.3(KCNT1):c.2305C>T (p.Leu769Phe)
|
|
|
|
NM_020822.3(KCNT1):c.2323C>G (p.Pro775Ala)
|
rs751320619
|
|
|
NM_020822.3(KCNT1):c.2328C>T (p.Phe776=)
|
rs1588376018
|
|
|
NM_020822.3(KCNT1):c.2329TGC[1] (p.Cys778del)
|
rs1390654782
|
|
|
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+7C>T
|
rs190849453
|
|
|
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.2378C>T (p.Ala793Val)
|
rs1833240649
|
|
|
NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His)
|
rs397515406
|
|
|
NM_020822.3(KCNT1):c.2389G>A (p.Gly797Arg)
|
rs1233102018
|
|
|
NM_020822.3(KCNT1):c.238T>C (p.Phe80Leu)
|
rs1454449324
|
|
|
NM_020822.3(KCNT1):c.2391G>A (p.Gly797=)
|
rs2131543508
|
|
|
NM_020822.3(KCNT1):c.2397G>A (p.Lys799=)
|
|
|
|
NM_020822.3(KCNT1):c.2407A>G (p.Ile803Val)
|
|
|
|
NM_020822.3(KCNT1):c.240C>G (p.Phe80Leu)
|
rs1554763398
|
|
|
NM_020822.3(KCNT1):c.240C>T (p.Phe80=)
|
rs1554763398
|
|
|
NM_020822.3(KCNT1):c.2411T>C (p.Ile804Thr)
|
rs2131543567
|
|
|
NM_020822.3(KCNT1):c.2418G>T (p.Ser806=)
|
rs142726010
|
|
|
NM_020822.3(KCNT1):c.241_246del (p.Gln81_Asn82del)
|
|
|
|
NM_020822.3(KCNT1):c.2426C>T (p.Thr809Met)
|
rs753288865
|
|
|
NM_020822.3(KCNT1):c.2433C>T (p.Gly811=)
|
|
|
|
NM_020822.3(KCNT1):c.2435A>G (p.Asn812Ser)
|
rs1564380461
|
|
|
NM_020822.3(KCNT1):c.2436T>C (p.Asn812=)
|
|
|
|
NM_020822.3(KCNT1):c.2446A>G (p.Asn816Asp)
|
rs2131543767
|
|
|
NM_020822.3(KCNT1):c.2449T>C (p.Phe817Leu)
|
rs1833245627
|
|
|
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.2464C>T (p.Arg822Trp)
|
rs746067661
|
|
|
NM_020822.3(KCNT1):c.2465G>A (p.Arg822Gln)
|
rs1833247008
|
|
|
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.2479T>A (p.Ser827Thr)
|
|
|
|
NM_020822.3(KCNT1):c.2480C>A (p.Ser827Tyr)
|
|
|
|
NM_020822.3(KCNT1):c.248A>G (p.Asp83Gly)
|
|
|
|
NM_020822.3(KCNT1):c.2493G>A (p.Leu831=)
|
|
|
|
NM_020822.3(KCNT1):c.2503G>A (p.Val835Met)
|
rs753584318
|
|
|
NM_020822.3(KCNT1):c.2505G>A (p.Val835=)
|
|
|
|
NM_020822.3(KCNT1):c.2509C>T (p.Leu837=)
|
rs2131544108
|
|
|
NM_020822.3(KCNT1):c.250G>A (p.Asp84Asn)
|
|
|
|
NM_020822.3(KCNT1):c.2517CAA[1] (p.Asn840del)
|
rs1833249937
|
|
|
NM_020822.3(KCNT1):c.251A>G (p.Asp84Gly)
|
|
|
|
NM_020822.3(KCNT1):c.2522+12G>A
|
|
|
|
NM_020822.3(KCNT1):c.2522+15G>A
|
rs1313134564
|
|
|
NM_020822.3(KCNT1):c.2522+15dup
|
|
|
|
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.2522+3G>A
|
rs1588381370
|
|
|
NM_020822.3(KCNT1):c.2522+3G>T
|
|
|
|
NM_020822.3(KCNT1):c.2523-12C>T
|
rs1007419018
|
|
|
NM_020822.3(KCNT1):c.2523-14C>T
|
|
|
|
NM_020822.3(KCNT1):c.2523-5del
|
|
|
|
NM_020822.3(KCNT1):c.2525C>T (p.Pro842Leu)
|
|
|
|
NM_020822.3(KCNT1):c.2527G>C (p.Asp843His)
|
rs376758763
|
|
|
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.254+18_254+19dup
|
rs141291153
|
|
|
NM_020822.3(KCNT1):c.254+3A>G
|
|
|
|
NM_020822.3(KCNT1):c.2543_2544insCCA (p.Glu848delinsAspGln)
|
|
|
|
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.2555G>T (p.Cys852Phe)
|
rs1474100198
|
|
|
NM_020822.3(KCNT1):c.2561C>T (p.Pro854Leu)
|
|
|
|
NM_020822.3(KCNT1):c.256G>A (p.Val86Ile)
|
rs1172819191
|
|
|
NM_020822.3(KCNT1):c.2575A>G (p.Met859Val)
|
|
|
|
NM_020822.3(KCNT1):c.2585C>G (p.Ser862Cys)
|
rs1564381972
|
|
|
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.2599G>A (p.Asp867Asn)
|
rs1424894748
|
|
|
NM_020822.3(KCNT1):c.2600A>G (p.Asp867Gly)
|
rs757223440
|
|
|
NM_020822.3(KCNT1):c.2601C>T (p.Asp867=)
|
rs1833360129
|
|
|
NM_020822.3(KCNT1):c.2610G>A (p.Leu870=)
|
|
|
|
NM_020822.3(KCNT1):c.2615G>A (p.Cys872Tyr)
|
|
|
|
NM_020822.3(KCNT1):c.2620A>G (p.Ile874Val)
|
|
|
|
NM_020822.3(KCNT1):c.2621T>C (p.Ile874Thr)
|
|
|
|
NM_020822.3(KCNT1):c.2622C>T (p.Ile874=)
|
|
|
|
NM_020822.3(KCNT1):c.2628T>C (p.Tyr876=)
|
rs2131549484
|
|
|
NM_020822.3(KCNT1):c.2631G>A (p.Ala877=)
|
|
|
|
NM_020822.3(KCNT1):c.2634C>A (p.Asp878Glu)
|
|
|
|
NM_020822.3(KCNT1):c.2638C>T (p.Leu880=)
|
rs1588384964
|
|
|
NM_020822.3(KCNT1):c.2639TGG[3] (p.Val883del)
|
rs2131549532
|
|
|
NM_020822.3(KCNT1):c.2643G>C (p.Val881=)
|
|
|
|
NM_020822.3(KCNT1):c.2646G>A (p.Val882=)
|
|
|
|
NM_020822.3(KCNT1):c.2647G>A (p.Val883Met)
|
|
|
|
NM_020822.3(KCNT1):c.2653A>G (p.Lys885Glu)
|
rs974652934
|
|
|
NM_020822.3(KCNT1):c.267G>A (p.Glu89=)
|
rs917179079
|
|
|
NM_020822.3(KCNT1):c.2680G>T (p.Asp894Tyr)
|
|
|
|
NM_020822.3(KCNT1):c.2685C>T (p.Tyr895=)
|
|
|
|
NM_020822.3(KCNT1):c.2686A>G (p.Met896Val)
|
|
|
|
NM_020822.3(KCNT1):c.2687T>A (p.Met896Lys)
|
rs1060503696
|
|
|
NM_020822.3(KCNT1):c.2687T>G (p.Met896Arg)
|
rs1060503696
|
|
|
NM_020822.3(KCNT1):c.2688G>A (p.Met896Ile)
|
rs797044544
|
|
|
NM_020822.3(KCNT1):c.2690C>T (p.Ala897Val)
|
|
|
|
NM_020822.3(KCNT1):c.2695G>A (p.Ala899Thr)
|
rs778647834
|
|
|
NM_020822.3(KCNT1):c.2695G>T (p.Ala899Ser)
|
|
|
|
NM_020822.3(KCNT1):c.26C>A (p.Thr9Asn)
|
|
|
|
NM_020822.3(KCNT1):c.26C>T (p.Thr9Ile)
|
rs771423997
|
|
|
NM_020822.3(KCNT1):c.2708T>A (p.Val903Asp)
|
|
|
|
NM_020822.3(KCNT1):c.2717A>G (p.Gln906Arg)
|
rs1588385233
|
|
|
NM_020822.3(KCNT1):c.2721C>T (p.Thr907=)
|
rs1588385244
|
|
|
NM_020822.3(KCNT1):c.2727C>A (p.Phe909Leu)
|
|
|
|
NM_020822.3(KCNT1):c.2729+10G>A
|
|
|
|
NM_020822.3(KCNT1):c.2729+20C>T
|
|
|
|
NM_020822.3(KCNT1):c.2729G>T (p.Arg910Leu)
|
|
|
|
NM_020822.3(KCNT1):c.2730-15_2730-9dup
|
|
|
|
NM_020822.3(KCNT1):c.2730-18G>C
|
|
|
|
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.2734_2745dup (p.Leu915_Ser916insPheProSerLeu)
|
|
|
|
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.2746A>G (p.Ser916Gly)
|
|
|
|
NM_020822.3(KCNT1):c.2749A>G (p.Ile917Val)
|
rs2131552837
|
|
|
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.2767C>T (p.His923Tyr)
|
|
|
|
NM_020822.3(KCNT1):c.2771C>T (p.Pro924Leu)
|
|
|
|
NM_020822.3(KCNT1):c.2778C>T (p.Asn926=)
|
rs1833435836
|
|
|
NM_020822.3(KCNT1):c.2779A>T (p.Met927Leu)
|
rs1486195544
|
|
|
NM_020822.3(KCNT1):c.2780T>C (p.Met927Thr)
|
|
|
|
NM_020822.3(KCNT1):c.2787C>T (p.Phe929=)
|
|
|
|
NM_020822.3(KCNT1):c.278A>G (p.Asn93Ser)
|
|
|
|
NM_020822.3(KCNT1):c.2794T>A (p.Phe932Ile)
|
rs886044717
|
|
|
NM_020822.3(KCNT1):c.2797C>G (p.Arg933Gly)
|
rs150395210
|
|
|
NM_020822.3(KCNT1):c.2798G>A (p.Arg933His)
|
rs1023136319
|
|
|
NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr)
|
rs397515403
|
|
|
NM_020822.3(KCNT1):c.2800G>T (p.Ala934Ser)
|
rs397515403
|
|
|
NM_020822.3(KCNT1):c.2801C>T (p.Ala934Val)
|
|
|
|
NM_020822.3(KCNT1):c.2804A>G (p.Lys935Arg)
|
rs1414528567
|
|
|
NM_020822.3(KCNT1):c.2809A>G (p.Ser937Gly)
|
rs1554778379
|
|
|
NM_020822.3(KCNT1):c.2812T>A (p.Tyr938Asn)
|
rs1833441002
|
|
|
NM_020822.3(KCNT1):c.2819T>C (p.Leu940Pro)
|
|
|
|
NM_020822.3(KCNT1):c.2824C>G (p.Leu942Val)
|
rs1833442352
|
|
|
NM_020822.3(KCNT1):c.2824C>T (p.Leu942Phe)
|
|
|
|
NM_020822.3(KCNT1):c.2828C>T (p.Ser943Phe)
|
rs1833442719
|
|
|
NM_020822.3(KCNT1):c.2830A>C (p.Lys944Gln)
|
|
|
|
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+5G>A
|
|
|
|
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.2843G>C (p.Arg948Thr)
|
rs755704046
|
|
|
NM_020822.3(KCNT1):c.2847G>A (p.Glu949=)
|
rs779429071
|
|
|
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
|
|
|
|
NM_020822.3(KCNT1):c.2849G>T (p.Arg950Leu)
|
rs886043455
|
|
|
NM_020822.3(KCNT1):c.2862C>T (p.Ser954=)
|
rs2131570981
|
|
|
NM_020822.3(KCNT1):c.2866C>T (p.Leu956=)
|
|
|
|
NM_020822.3(KCNT1):c.2869G>T (p.Ala957Ser)
|
rs1277322108
|
|
|
NM_020822.3(KCNT1):c.2876T>C (p.Met959Thr)
|
rs1318262895
|
|
|
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His)
|
rs200694691
|
|
|
NM_020822.3(KCNT1):c.2887C>G (p.Pro963Ala)
|
rs2131571194
|
|
|
NM_020822.3(KCNT1):c.2888C>T (p.Pro963Leu)
|
rs997774104
|
|
|
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.2893G>A (p.Ala965Thr)
|
|
|
|
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
|
|
|
|
NM_020822.3(KCNT1):c.28C>G (p.Pro10Ala)
|
|
|
|
NM_020822.3(KCNT1):c.2903G>T (p.Arg968Leu)
|
rs1325608473
|
|
|
NM_020822.3(KCNT1):c.2910C>T (p.Phe970=)
|
|
|
|
NM_020822.3(KCNT1):c.2910CAGCAT[3] (p.Ser973_Met974insIleSer)
|
|
|
|
NM_020822.3(KCNT1):c.2912G>C (p.Ser971Thr)
|
rs1279003717
|
|
|
NM_020822.3(KCNT1):c.2916C>T (p.Ile972=)
|
rs878855056
|
|
|
NM_020822.3(KCNT1):c.2919C>T (p.Ser973=)
|
|
|
|
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.2943+1G>C
|
rs1833833144
|
|
|
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.2944-21_2944-6del
|
|
|
|
NM_020822.3(KCNT1):c.2944-3C>T
|
rs1554779944
|
|
|
NM_020822.3(KCNT1):c.2944-52CTCC[4]
|
rs55843930
|
|
|
NM_020822.3(KCNT1):c.2944-52CTCC[6]
|
rs55843930
|
|
|
NM_020822.3(KCNT1):c.2944-52CTCC[7]
|
rs55843930
|
|
|
NM_020822.3(KCNT1):c.2944-52CTCC[8]
|
rs55843930
|
|
|
NM_020822.3(KCNT1):c.2944-52CTCC[9]
|
rs55843930
|
|
|
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.2950G>C (p.Val984Leu)
|
|
|
|
NM_020822.3(KCNT1):c.2955G>C (p.Lys985Asn)
|
rs1833883179
|
|
|
NM_020822.3(KCNT1):c.2958C>T (p.Asp986=)
|
|
|
|
NM_020822.3(KCNT1):c.2960A>G (p.Tyr987Cys)
|
|
|
|
NM_020822.3(KCNT1):c.2968A>G (p.Thr990Ala)
|
rs1833884066
|
|
|
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.2978G>A (p.Arg993Gln)
|
rs1833885872
|
|
|
NM_020822.3(KCNT1):c.298C>A (p.Arg100=)
|
|
|
|
NM_020822.3(KCNT1):c.298C>T (p.Arg100Trp)
|
rs1831067002
|
|
|
NM_020822.3(KCNT1):c.2992C>T (p.Leu998=)
|
|
|
|
NM_020822.3(KCNT1):c.3003G>A (p.Thr1001=)
|
rs560435329
|
|
|
NM_020822.3(KCNT1):c.3011C>G (p.Ser1004Trp)
|
|
|
|
NM_020822.3(KCNT1):c.3017A>C (p.Tyr1006Ser)
|
rs1833891089
|
|
|
NM_020822.3(KCNT1):c.3023G>A (p.Cys1008Tyr)
|
|
|
|
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.3028-2A>T
|
rs2131575343
|
|
|
NM_020822.3(KCNT1):c.3028-5T>G
|
rs755073132
|
|
|
NM_020822.3(KCNT1):c.3028-8C>T
|
rs2131575328
|
|
|
NM_020822.3(KCNT1):c.3040G>A (p.Glu1014Lys)
|
|
|
|
NM_020822.3(KCNT1):c.3046G>T (p.Asp1016Tyr)
|
rs779908455
|
|
|
NM_020822.3(KCNT1):c.304A>G (p.Lys102Glu)
|
|
|
|
NM_020822.3(KCNT1):c.3050T>C (p.Leu1017Pro)
|
rs1450164108
|
|
|
NM_020822.3(KCNT1):c.3060C>T (p.Arg1020=)
|
|
|
|
NM_020822.3(KCNT1):c.3072C>G (p.Arg1024=)
|
|
|
|
NM_020822.3(KCNT1):c.3078C>G (p.Phe1026Leu)
|
rs1588401995
|
|
|
NM_020822.3(KCNT1):c.3092C>T (p.Ser1031Phe)
|
rs750371003
|
|
|
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.3112A>G (p.Ile1038Val)
|
|
|
|
NM_020822.3(KCNT1):c.3119T>C (p.Ile1040Thr)
|
|
|
|
NM_020822.3(KCNT1):c.3124C>T (p.Arg1042Trp)
|
rs772472766
|
|
|
NM_020822.3(KCNT1):c.3128C>G (p.Thr1043Arg)
|
|
|
|
NM_020822.3(KCNT1):c.3128C>T (p.Thr1043Ile)
|
|
|
|
NM_020822.3(KCNT1):c.3129A>G (p.Thr1043=)
|
|
|
|
NM_020822.3(KCNT1):c.3132G>C (p.Glu1044Asp)
|
rs771326200
|
|
|
NM_020822.3(KCNT1):c.3134G>A (p.Ser1045Asn)
|
|
|
|
NM_020822.3(KCNT1):c.3139G>A (p.Val1047Ile)
|
rs760000324
|
|
|
NM_020822.3(KCNT1):c.3145T>G (p.Ser1049Ala)
|
|
|
|
NM_020822.3(KCNT1):c.3145_3147del (p.Ser1049del)
|
rs758292147
|
|
|
NM_020822.3(KCNT1):c.3152C>A (p.Ser1051Ter)
|
rs375749415
|
|
|
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+3T>C
|
rs2131575984
|
|
|
NM_020822.3(KCNT1):c.3156+5T>C
|
rs2131575991
|
|
|
NM_020822.3(KCNT1):c.3156+6G>C
|
rs1474671973
|
|
|
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.3157C>T (p.Pro1053Ser)
|
rs1833952592
|
|
|
NM_020822.3(KCNT1):c.3163G>T (p.Asp1055Tyr)
|
|
|
|
NM_020822.3(KCNT1):c.3165C>T (p.Asp1055=)
|
|
|
|
NM_020822.3(KCNT1):c.3172G>A (p.Ala1058Thr)
|
rs1564392375
|
|
|
NM_020822.3(KCNT1):c.3173C>T (p.Ala1058Val)
|
rs757774262
|
|
|
NM_020822.3(KCNT1):c.3174C>T (p.Ala1058=)
|
rs2131577612
|
|
|
NM_020822.3(KCNT1):c.3176A>G (p.Gln1059Arg)
|
|
|
|
NM_020822.3(KCNT1):c.3177+12del
|
rs749581375
|
|
|
NM_020822.3(KCNT1):c.3177+15C>T
|
|
|
|
NM_020822.3(KCNT1):c.3177+16G>T
|
|
|
|
NM_020822.3(KCNT1):c.3177+6C>T
|
|
|
|
NM_020822.3(KCNT1):c.3177+9C>A
|
rs781750496
|
|
|
NM_020822.3(KCNT1):c.3177_3177+22dup
|
rs1833953810
|
|
|
NM_020822.3(KCNT1):c.3178-12_3180dup
|
|
|
|
NM_020822.3(KCNT1):c.3178-14C>T
|
|
|
|
NM_020822.3(KCNT1):c.3178-19C>T
|
|
|
|
NM_020822.3(KCNT1):c.3178-1G>A
|
|
|
|
NM_020822.3(KCNT1):c.3178-26GCCCT[2]
|
rs757968008
|
|
|
NM_020822.3(KCNT1):c.3178-26GCCCT[3]
|
rs757968008
|
|
|
NM_020822.3(KCNT1):c.3178-26GCCCT[5]
|
rs757968008
|
|
|
NM_020822.3(KCNT1):c.3178-26GCCCT[6]
|
rs757968008
|
|
|
NM_020822.3(KCNT1):c.3178-5_3178-1dup
|
rs772240955
|
|
|
NM_020822.3(KCNT1):c.3178-6_3178-5insT
|
|
|
|
NM_020822.3(KCNT1):c.3178-7T>A
|
|
|
|
NM_020822.3(KCNT1):c.3178-7_3180dup
|
|
|
|
NM_020822.3(KCNT1):c.3178T>C (p.Ser1060Pro)
|
|
|
|
NM_020822.3(KCNT1):c.3179C>T (p.Ser1060Phe)
|
rs758653391
|
|
|
NM_020822.3(KCNT1):c.3183G>A (p.Gln1061=)
|
|
|
|
NM_020822.3(KCNT1):c.3184_3210dup (p.Glu1070_Asp1071insIleSerValAsnValGluAspCysGlu)
|
|
|
|
NM_020822.3(KCNT1):c.3185T>C (p.Ile1062Thr)
|
rs1588407407
|
|
|
NM_020822.3(KCNT1):c.3188C>T (p.Ser1063Leu)
|
rs1161728281
|
|
|
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.3202G>A (p.Asp1068Asn)
|
rs1834036491
|
|
|
NM_020822.3(KCNT1):c.3205T>A (p.Cys1069Ser)
|
rs781225639
|
|
|
NM_020822.3(KCNT1):c.3206G>A (p.Cys1069Tyr)
|
|
|
|
NM_020822.3(KCNT1):c.3217C>T (p.Arg1073Trp)
|
rs768536067
|
|
|
NM_020822.3(KCNT1):c.3218G>A (p.Arg1073Gln)
|
|
|
|
NM_020822.3(KCNT1):c.3218G>C (p.Arg1073Pro)
|
rs747837141
|
|
|
NM_020822.3(KCNT1):c.3219G>A (p.Arg1073=)
|
|
|
|
NM_020822.3(KCNT1):c.3225G>A (p.Val1075=)
|
|
|
|
NM_020822.3(KCNT1):c.3232C>T (p.Pro1078Ser)
|
rs1834038347
|
|
|
NM_020822.3(KCNT1):c.3244C>G (p.Arg1082Gly)
|
rs776232246
|
|
|
NM_020822.3(KCNT1):c.3247G>C (p.Ala1083Pro)
|
rs917893164
|
|
|
NM_020822.3(KCNT1):c.324C>A (p.Asn108Lys)
|
|
|
|
NM_020822.3(KCNT1):c.3254C>T (p.Thr1085Ile)
|
|
|
|
NM_020822.3(KCNT1):c.3260G>A (p.Gly1087Asp)
|
rs1834040486
|
|
|
NM_020822.3(KCNT1):c.3281C>G (p.Thr1094Arg)
|
|
|
|
NM_020822.3(KCNT1):c.3290G>T (p.Gly1097Val)
|
|
|
|
NM_020822.3(KCNT1):c.3294C>T (p.Asp1098=)
|
|
|
|
NM_020822.3(KCNT1):c.3297C>G (p.Pro1099=)
|
rs759060691
|
|
|
NM_020822.3(KCNT1):c.3299C>T (p.Ala1100Val)
|
|
|
|
NM_020822.3(KCNT1):c.3306C>A (p.His1102Gln)
|
|
|
|
NM_020822.3(KCNT1):c.3307C>A (p.Pro1103Thr)
|
rs1347095932
|
|
|
NM_020822.3(KCNT1):c.3316C>A (p.Arg1106=)
|
rs542409033
|
|
|
NM_020822.3(KCNT1):c.3316C>T (p.Arg1106Trp)
|
rs542409033
|
|
|
NM_020822.3(KCNT1):c.3318G>A (p.Arg1106=)
|
rs2131582189
|
|
|
NM_020822.3(KCNT1):c.3318_3320dup (p.Arg1107_Lys1108insArg)
|
|
|
|
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.3338C>A (p.Ala1113Asp)
|
rs1193627908
|
|
|
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+8G>A
|
|
|
|
NM_020822.3(KCNT1):c.334+8_334+12del
|
|
|
|
NM_020822.3(KCNT1):c.3340C>G (p.Arg1114Gly)
|
rs370085077
|
|
|
NM_020822.3(KCNT1):c.3346C>A (p.Leu1116Met)
|
|
|
|
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.335-5C>A
|
rs745658927
|
|
|
NM_020822.3(KCNT1):c.3352C>T (p.Arg1118Cys)
|
|
|
|
NM_020822.3(KCNT1):c.3354C>T (p.Arg1118=)
|
|
|
|
NM_020822.3(KCNT1):c.3356A>C (p.Lys1119Thr)
|
|
|
|
NM_020822.3(KCNT1):c.3361C>T (p.Pro1121Ser)
|
|
|
|
NM_020822.3(KCNT1):c.3369G>A (p.Gln1123=)
|
rs2131582485
|
|
|
NM_020822.3(KCNT1):c.3374G>A (p.Gly1125Asp)
|
rs1316682933
|
|
|
NM_020822.3(KCNT1):c.3374G>C (p.Gly1125Ala)
|
|
|
|
NM_020822.3(KCNT1):c.3385G>A (p.Ala1129Thr)
|
rs1834052820
|
|
|
NM_020822.3(KCNT1):c.3385G>T (p.Ala1129Ser)
|
|
|
|
NM_020822.3(KCNT1):c.3387C>G (p.Ala1129=)
|
rs372410150
|
|
|
NM_020822.3(KCNT1):c.3388G>T (p.Ala1130Ser)
|
rs138421850
|
|
|
NM_020822.3(KCNT1):c.3389C>T (p.Ala1130Val)
|
|
|
|
NM_020822.3(KCNT1):c.338T>A (p.Leu113Gln)
|
rs1588309597
|
|
|
NM_020822.3(KCNT1):c.3391G>A (p.Glu1131Lys)
|
rs2131582676
|
|
|
NM_020822.3(KCNT1):c.3396G>T (p.Trp1132Cys)
|
|
|
|
NM_020822.3(KCNT1):c.3397A>T (p.Ile1133Phe)
|
rs1408375707
|
|
|
NM_020822.3(KCNT1):c.3409C>A (p.Arg1137Ser)
|
|
|
|
NM_020822.3(KCNT1):c.3412C>A (p.Leu1138Ile)
|
|
|
|
NM_020822.3(KCNT1):c.3417C>T (p.Ser1139=)
|
|
|
|
NM_020822.3(KCNT1):c.3418C>A (p.Leu1140Met)
|
rs1237797436
|
|
|
NM_020822.3(KCNT1):c.3418C>T (p.Leu1140=)
|
|
|
|
NM_020822.3(KCNT1):c.3419T>A (p.Leu1140Gln)
|
rs774987263
|
|
|
NM_020822.3(KCNT1):c.3420G>A (p.Leu1140=)
|
|
|
|
NM_020822.3(KCNT1):c.3426G>A (p.Arg1142=)
|
|
|
|
NM_020822.3(KCNT1):c.3427C>A (p.Arg1143Ser)
|
rs760923308
|
|
|
NM_020822.3(KCNT1):c.3427C>T (p.Arg1143Cys)
|
|
|
|
NM_020822.3(KCNT1):c.3428G>A (p.Arg1143His)
|
rs1182743416
|
|
|
NM_020822.3(KCNT1):c.3430T>C (p.Ser1144Pro)
|
rs2131582898
|
|
|
NM_020822.3(KCNT1):c.3433G>A (p.Glu1145Lys)
|
|
|
|
NM_020822.3(KCNT1):c.3441G>C (p.Gln1147His)
|
|
|
|
NM_020822.3(KCNT1):c.3451G>C (p.Glu1151Gln)
|
|
|
|
NM_020822.3(KCNT1):c.3460_3461delinsGT (p.Lys1154Val)
|
rs1834060931
|
|
|
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.3464A>G (p.Asn1155Ser)
|
|
|
|
NM_020822.3(KCNT1):c.3466C>T (p.Arg1156Cys)
|
|
|
|
NM_020822.3(KCNT1):c.3478C>T (p.Leu1160=)
|
|
|
|
NM_020822.3(KCNT1):c.3493A>G (p.Thr1165Ala)
|
rs549276113
|
|
|
NM_020822.3(KCNT1):c.3494C>T (p.Thr1165Ile)
|
rs748679465
|
|
|
NM_020822.3(KCNT1):c.34G>A (p.Gly12Ser)
|
rs1445337149
|
|
|
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.3514G>A (p.Asp1172Asn)
|
|
|
|
NM_020822.3(KCNT1):c.3516CCA[3] (p.His1173dup)
|
rs1290067674
|
|
|
NM_020822.3(KCNT1):c.3525C>G (p.Asn1175Lys)
|
rs139454881
|
|
|
NM_020822.3(KCNT1):c.3526A>G (p.Thr1176Ala)
|
|
|
|
NM_020822.3(KCNT1):c.3529C>G (p.Leu1177Val)
|
rs1474508355
|
|
|
NM_020822.3(KCNT1):c.3529C>T (p.Leu1177Phe)
|
|
|
|
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.3559G>A (p.Asp1187Asn)
|
|
|
|
NM_020822.3(KCNT1):c.3559G>C (p.Asp1187His)
|
rs142875411
|
|
|
NM_020822.3(KCNT1):c.3561C>A (p.Asp1187Glu)
|
rs773695396
|
|
|
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.3574C>T (p.Pro1192Ser)
|
rs1445788992
|
|
|
NM_020822.3(KCNT1):c.3579T>G (p.Ser1193Arg)
|
|
|
|
NM_020822.3(KCNT1):c.357C>A (p.Asn119Lys)
|
rs1831125430
|
|
|
NM_020822.3(KCNT1):c.3581A>G (p.Asp1194Gly)
|
rs2131604934
|
|
|
NM_020822.3(KCNT1):c.3583A>C (p.Ile1195Leu)
|
|
|
|
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.35dup (p.Val13fs)
|
rs1835063072
|
|
|
NM_020822.3(KCNT1):c.3600C>G (p.Arg1200=)
|
|
|
|
NM_020822.3(KCNT1):c.3600C>T (p.Arg1200=)
|
rs144658404
|
|
|
NM_020822.3(KCNT1):c.3601T>A (p.Ser1201Thr)
|
|
|
|
NM_020822.3(KCNT1):c.3601T>C (p.Ser1201Pro)
|
|
|
|
NM_020822.3(KCNT1):c.3603C>A (p.Ser1201=)
|
rs769180686
|
|
|
NM_020822.3(KCNT1):c.3603C>T (p.Ser1201=)
|
rs769180686
|
|
|
NM_020822.3(KCNT1):c.3606C>A (p.Asp1202Glu)
|
rs140628824
|
|
|
NM_020822.3(KCNT1):c.3608C>A (p.Pro1203His)
|
rs762025166
|
|
|
NM_020822.3(KCNT1):c.360C>G (p.Phe120Leu)
|
|
|
|
NM_020822.3(KCNT1):c.3614C>G (p.Ala1205Gly)
|
|
|
|
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.3630C>A (p.Ser1210Arg)
|
|
|
|
NM_020822.3(KCNT1):c.3634C>A (p.Gln1212Lys)
|
rs1554782444
|
|
|
NM_020822.3(KCNT1):c.3634C>T (p.Gln1212Ter)
|
|
|
|
NM_020822.3(KCNT1):c.3646A>C (p.Ser1216Arg)
|
rs1834583130
|
|
|
NM_020822.3(KCNT1):c.3648C>T (p.Ser1216=)
|
rs1834583279
|
|
|
NM_020822.3(KCNT1):c.3649A>G (p.Ser1217Gly)
|
rs2131606216
|
|
|
NM_020822.3(KCNT1):c.364C>T (p.Leu122=)
|
rs2131411142
|
|
|
NM_020822.3(KCNT1):c.3650G>T (p.Ser1217Ile)
|
|
|
|
NM_020822.3(KCNT1):c.3653G>A (p.Cys1218Tyr)
|
rs758465935
|
|
|
NM_020822.3(KCNT1):c.3661A>G (p.Lys1221Glu)
|
|
|
|
NM_020822.3(KCNT1):c.3662A>G (p.Lys1221Arg)
|
rs1834585051
|
|
|
NM_020822.3(KCNT1):c.3666GTC[1] (p.Ser1224del)
|
|
|
|
NM_020822.3(KCNT1):c.3669G>A (p.Ser1223=)
|
rs556454353
|
|
|
NM_020822.3(KCNT1):c.3679C>G (p.Pro1227Ala)
|
|
|
|
NM_020822.3(KCNT1):c.3679_3690del (p.Pro1227_Arg1230del)
|
|
|
|
NM_020822.3(KCNT1):c.3688C>G (p.Arg1230Gly)
|
|
|
|
NM_020822.3(KCNT1):c.3696G>C (p.Glu1232Asp)
|
|
|
|
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.3700_3701del (p.Gln1234fs)
|
rs1834589533
|
|
|
NM_020822.3(KCNT1):c.372G>A (p.Leu124=)
|
rs1398608504
|
|
|
NM_020822.3(KCNT1):c.385C>A (p.Leu129Ile)
|
rs1402206752
|
|
|
NM_020822.3(KCNT1):c.385C>G (p.Leu129Val)
|
rs1402206752
|
|
|
NM_020822.3(KCNT1):c.38T>C (p.Val13Ala)
|
rs764111643
|
|
|
NM_020822.3(KCNT1):c.394G>A (p.Val132Met)
|
|
|
|
NM_020822.3(KCNT1):c.397C>T (p.Arg133Cys)
|
|
|
|
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.400G>T (p.Val134Phe)
|
rs766663683
|
|
|
NM_020822.3(KCNT1):c.402C>G (p.Val134=)
|
|
|
|
NM_020822.3(KCNT1):c.406C>T (p.Leu136Phe)
|
|
|
|
NM_020822.3(KCNT1):c.416C>T (p.Pro139Leu)
|
|
|
|
NM_020822.3(KCNT1):c.417G>A (p.Pro139=)
|
rs542441332
|
|
|
NM_020822.3(KCNT1):c.417G>C (p.Pro139=)
|
|
|
|
NM_020822.3(KCNT1):c.419C>T (p.Ala140Val)
|
rs2131411420
|
|
|
NM_020822.3(KCNT1):c.426C>T (p.Gly142=)
|
|
|
|
NM_020822.3(KCNT1):c.427A>G (p.Ile143Val)
|
|
|
|
NM_020822.3(KCNT1):c.429C>A (p.Ile143=)
|
rs767429133
|
|
|
NM_020822.3(KCNT1):c.433T>C (p.Cys145Arg)
|
|
|
|
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.434G>A (p.Cys145Tyr)
|
rs1831132002
|
|
|
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.44G>A (p.Arg15Gln)
|
rs373446490
|
|
|
NM_020822.3(KCNT1):c.451C>G (p.Gln151Glu)
|
|
|
|
NM_020822.3(KCNT1):c.457T>C (p.Tyr153His)
|
rs757995472
|
|
|
NM_020822.3(KCNT1):c.464T>C (p.Phe155Ser)
|
|
|
|
NM_020822.3(KCNT1):c.46G>A (p.Glu16Lys)
|
|
|
|
NM_020822.3(KCNT1):c.46G>C (p.Glu16Gln)
|
rs1835063926
|
|
|
NM_020822.3(KCNT1):c.476C>T (p.Ser159Phe)
|
rs2131422984
|
|
|
NM_020822.3(KCNT1):c.488A>G (p.Asn163Ser)
|
|
|
|
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.492-3C>A
|
rs1831398385
|
|
|
NM_020822.3(KCNT1):c.493G>A (p.Ala165Thr)
|
rs149908455
|
|
|
NM_020822.3(KCNT1):c.497C>T (p.Pro166Leu)
|
|
|
|
NM_020822.3(KCNT1):c.498T>C (p.Pro166=)
|
rs1402179280
|
|
|
NM_020822.3(KCNT1):c.4C>T (p.Pro2Ser)
|
rs748898708
|
|
|
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.513_516del (p.Arg172_Lys173insTer)
|
rs1831399744
|
|
|
NM_020822.3(KCNT1):c.518A>G (p.Lys173Arg)
|
rs1028292080
|
|
|
NM_020822.3(KCNT1):c.51G>A (p.Ala17=)
|
|
|
|
NM_020822.3(KCNT1):c.524C>T (p.Thr175Ile)
|
|
|
|
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.534G>C (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.540+23del
|
rs759524379
|
|
|
NM_020822.3(KCNT1):c.540G>A (p.Gln180=)
|
|
|
|
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.553A>G (p.Ile185Val)
|
rs2131434707
|
|
|
NM_020822.3(KCNT1):c.555A>G (p.Ile185Met)
|
rs1588321846
|
|
|
NM_020822.3(KCNT1):c.556A>G (p.Ile186Val)
|
rs1831515095
|
|
|
NM_020822.3(KCNT1):c.558A>G (p.Ile186Met)
|
|
|
|
NM_020822.3(KCNT1):c.55G>C (p.Gly19Arg)
|
|
|
|
NM_020822.3(KCNT1):c.56_75dup (p.Thr26fs)
|
|
|
|
NM_020822.3(KCNT1):c.572C>T (p.Thr191Met)
|
rs1429039180
|
|
|
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.589C>T (p.Leu197Phe)
|
|
|
|
NM_020822.3(KCNT1):c.58G>C (p.Gly20Arg)
|
rs2131304181
|
|
|
NM_020822.3(KCNT1):c.593G>C (p.Ser198Thr)
|
|
|
|
NM_020822.3(KCNT1):c.600+11G>A
|
rs375220600
|
|
|
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+3G>A
|
|
|
|
NM_020822.3(KCNT1):c.600+71dup
|
rs879903723
|
|
|
NM_020822.3(KCNT1):c.600+8C>T
|
rs1588321982
|
|
|
NM_020822.3(KCNT1):c.601-13C>T
|
rs202113794
|
|
|
NM_020822.3(KCNT1):c.601-13del
|
|
|
|
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.60_75del (p.Gly21fs)
|
rs2131304179
|
|
|
NM_020822.3(KCNT1):c.612G>T (p.Trp204Cys)
|
|
|
|
NM_020822.3(KCNT1):c.615G>A (p.Glu205=)
|
|
|
|
NM_020822.3(KCNT1):c.616C>T (p.Gln206Ter)
|
rs1192150242
|
|
|
NM_020822.3(KCNT1):c.616_618del (p.Gln206del)
|
|
|
|
NM_020822.3(KCNT1):c.619A>G (p.Ile207Val)
|
|
|
|
NM_020822.3(KCNT1):c.621C>A (p.Ile207=)
|
rs1185207674
|
|
|
NM_020822.3(KCNT1):c.626G>T (p.Arg209Leu)
|
|
|
|
NM_020822.3(KCNT1):c.627C>T (p.Arg209=)
|
rs1417508265
|
|
|
NM_020822.3(KCNT1):c.62G>A (p.Gly21Asp)
|
rs368870705
|
|
|
NM_020822.3(KCNT1):c.62del (p.Gly21fs)
|
|
|
|
NM_020822.3(KCNT1):c.648G>A (p.Met216Ile)
|
|
|
|
NM_020822.3(KCNT1):c.651C>G (p.Ile217Met)
|
rs1217512521
|
|
|
NM_020822.3(KCNT1):c.654C>T (p.Asn218=)
|
|
|
|
NM_020822.3(KCNT1):c.658C>G (p.Leu220Val)
|
|
|
|
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.675+17_676-22del
|
|
|
|
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.67A>C (p.Thr23Pro)
|
|
|
|
NM_020822.3(KCNT1):c.686C>T (p.Pro229Leu)
|
|
|
|
NM_020822.3(KCNT1):c.694C>T (p.Arg232Trp)
|
|
|
|
NM_020822.3(KCNT1):c.695G>A (p.Arg232Gln)
|
|
|
|
NM_020822.3(KCNT1):c.700C>T (p.Leu234=)
|
rs1831563332
|
|
|
NM_020822.3(KCNT1):c.701T>A (p.Leu234Gln)
|
rs201583448
|
|
|
NM_020822.3(KCNT1):c.702G>A (p.Leu234=)
|
rs2131438438
|
|
|
NM_020822.3(KCNT1):c.704del (p.Phe235fs)
|
rs1187172120
|
|
|
NM_020822.3(KCNT1):c.70A>C (p.Asn24His)
|
|
|
|
NM_020822.3(KCNT1):c.711C>G (p.Pro237=)
|
rs117286274
|
|
|
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.742G>A (p.Ala248Thr)
|
|
|
|
NM_020822.3(KCNT1):c.744G>T (p.Ala248=)
|
|
|
|
NM_020822.3(KCNT1):c.747G>A (p.Leu249=)
|
|
|
|
NM_020822.3(KCNT1):c.748G>C (p.Glu250Gln)
|
|
|
|
NM_020822.3(KCNT1):c.74G>C (p.Arg25Pro)
|
rs764163914
|
|
|
NM_020822.3(KCNT1):c.752del (p.Asn251fs)
|
|
|
|
NM_020822.3(KCNT1):c.754A>T (p.Met252Leu)
|
rs755782470
|
|
|
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.759+18del
|
|
|
|
NM_020822.3(KCNT1):c.759+18dup
|
|
|
|
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.763G>A (p.Asp255Asn)
|
|
|
|
NM_020822.3(KCNT1):c.763del (p.Asp255fs)
|
rs755630818
|
|
|
NM_020822.3(KCNT1):c.768C>T (p.Phe256=)
|
rs1422265516
|
|
|
NM_020822.3(KCNT1):c.772C>T (p.Arg258Cys)
|
|
|
|
NM_020822.3(KCNT1):c.773G>A (p.Arg258His)
|
|
|
|
NM_020822.3(KCNT1):c.775G>A (p.Ala259Thr)
|
rs1831666357
|
|
|
NM_020822.3(KCNT1):c.775G>T (p.Ala259Ser)
|
|
|
|
NM_020822.3(KCNT1):c.779T>C (p.Ile260Thr)
|
|
|
|
NM_020822.3(KCNT1):c.781C>T (p.Leu261=)
|
rs1588327182
|
|
|
NM_020822.3(KCNT1):c.784C>A (p.Arg262=)
|
|
|
|
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln)
|
rs1554771469
|
|
|
NM_020822.3(KCNT1):c.790C>A (p.Gln264Lys)
|
|
|
|
NM_020822.3(KCNT1):c.790C>T (p.Gln264Ter)
|
|
|
|
NM_020822.3(KCNT1):c.793_796del (p.Ser265fs)
|
rs764041770
|
|
|
NM_020822.3(KCNT1):c.797C>T (p.Ala266Val)
|
rs1341175923
|
|
|
NM_020822.3(KCNT1):c.7C>T (p.Leu3Phe)
|
|
|
|
NM_020822.3(KCNT1):c.808C>A (p.Gln270Lys)
|
|
|
|
NM_020822.3(KCNT1):c.814C>A (p.Leu272Ile)
|
rs757884130
|
|
|
NM_020822.3(KCNT1):c.814C>T (p.Leu272Phe)
|
|
|
|
NM_020822.3(KCNT1):c.816C>T (p.Leu272=)
|
rs764531029
|
|
|
NM_020822.3(KCNT1):c.817A>G (p.Ile273Val)
|
|
|
|
NM_020822.3(KCNT1):c.819C>G (p.Ile273Met)
|
|
|
|
NM_020822.3(KCNT1):c.81C>A (p.Phe27Leu)
|
|
|
|
NM_020822.3(KCNT1):c.825C>G (p.Phe275Leu)
|
|
|
|
NM_020822.3(KCNT1):c.825C>T (p.Phe275=)
|
|
|
|
NM_020822.3(KCNT1):c.82_84del (p.Glu28del)
|
|
|
|
NM_020822.3(KCNT1):c.839G>A (p.Cys280Tyr)
|
rs1160972448
|
|
|
NM_020822.3(KCNT1):c.844G>A (p.Val282Ile)
|
|
|
|
NM_020822.3(KCNT1):c.852G>T (p.Thr284=)
|
|
|
|
NM_020822.3(KCNT1):c.854+13C>T
|
|
|
|
NM_020822.3(KCNT1):c.855-10G>A
|
rs1057521940
|
|
|
NM_020822.3(KCNT1):c.855-4G>T
|
|
|
|
NM_020822.3(KCNT1):c.855-7G>A
|
rs768046676
|
|
|
NM_020822.3(KCNT1):c.855-9G>A
|
|
|
|
NM_020822.3(KCNT1):c.855G>C (p.Gly285=)
|
|
|
|
NM_020822.3(KCNT1):c.85T>C (p.Phe29Leu)
|
rs1406826181
|
|
|
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser)
|
rs587777264
|
|
|
NM_020822.3(KCNT1):c.862G>T (p.Gly288Cys)
|
rs587777264
|
|
|
NM_020822.3(KCNT1):c.864C>T (p.Gly288=)
|
|
|
|
NM_020822.3(KCNT1):c.880C>A (p.Arg294=)
|
|
|
|
NM_020822.3(KCNT1):c.881G>A (p.Arg294Gln)
|
|
|
|
NM_020822.3(KCNT1):c.886G>A (p.Gly296Ser)
|
rs1831777941
|
|
|
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.898T>C (p.Ser300Pro)
|
rs1564356207
|
|
|
NM_020822.3(KCNT1):c.899C>T (p.Ser300Phe)
|
|
|
|
NM_020822.3(KCNT1):c.908C>T (p.Thr303Ile)
|
|
|
|
NM_020822.3(KCNT1):c.909_910delinsGA (p.Ser304Thr)
|
rs1060503697
|
|
|
NM_020822.3(KCNT1):c.914T>C (p.Phe305Ser)
|
|
|
|
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.943G>A (p.Val315Met)
|
|
|
|
NM_020822.3(KCNT1):c.94G>T (p.Gly32Cys)
|
rs754823810
|
|
|
NM_020822.3(KCNT1):c.952G>A (p.Gly318Ser)
|
rs1831783786
|
|
|
NM_020822.3(KCNT1):c.962C>T (p.Thr321Met)
|
rs1588330851
|
|
|
NM_020822.3(KCNT1):c.963G>C (p.Thr321=)
|
rs760300415
|
|
|
NM_020822.3(KCNT1):c.968A>G (p.Lys323Arg)
|
rs978227077
|
|
|
NM_020822.3(KCNT1):c.971T>A (p.Ile324Asn)
|
rs2131451388
|
|
|
NM_020822.3(KCNT1):c.972C>G (p.Ile324Met)
|
rs1831785244
|
|
|
NM_020822.3(KCNT1):c.973T>G (p.Trp325Gly)
|
|
|
|
NM_020822.3(KCNT1):c.977C>T (p.Pro326Leu)
|
rs777106178
|
|
|
NM_020822.3(KCNT1):c.980C>T (p.Ser327Leu)
|
rs1340962392
|
|
|
NM_020822.3(KCNT1):c.997A>T (p.Ile333Phe)
|
|
|
|
NM_020822.3(KCNT1):c.999C>G (p.Ile333Met)
|
rs764327750
|
|
|
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.1009G>C (p.Glu337Gln)
|
rs761766419
|
|
|
NM_021267.5(CERS1):c.1011-16C>T
|
rs2145990522
|
|
|
NM_021267.5(CERS1):c.1011-2A>G
|
rs771873576
|
|
|
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.102_103insTCG (p.Ala34_Arg35insSer)
|
rs1210737907
|
|
|
NM_021267.5(CERS1):c.1035G>A (p.Val345=)
|
rs749025315
|
|
|
NM_021267.5(CERS1):c.113C>A (p.Thr38Lys)
|
|
|
|
NM_021267.5(CERS1):c.118T>G (p.Cys40Gly)
|
|
|
|
NM_021267.5(CERS1):c.123C>G (p.Gly41=)
|
rs2146084585
|
|
|
NM_021267.5(CERS1):c.133G>C (p.Ala45Pro)
|
rs2146084497
|
|
|
NM_021267.5(CERS1):c.148G>C (p.Ala50Pro)
|
|
|
|
NM_021267.5(CERS1):c.148G>T (p.Ala50Ser)
|
|
|
|
NM_021267.5(CERS1):c.156C>T (p.His52=)
|
rs2146084390
|
|
|
NM_021267.5(CERS1):c.158C>G (p.Ala53Gly)
|
rs2056615240
|
|
|
NM_021267.5(CERS1):c.15G>T (p.Gly5=)
|
|
|
|
NM_021267.5(CERS1):c.171G>T (p.Pro57=)
|
rs1165273715
|
|
|
NM_021267.5(CERS1):c.173C>T (p.Pro58Leu)
|
rs2056614649
|
|
|
NM_021267.5(CERS1):c.177G>C (p.Glu59Asp)
|
rs2056614444
|
|
|
NM_021267.5(CERS1):c.178C>G (p.Leu60Val)
|
rs760185006
|
|
|
NM_021267.5(CERS1):c.17C>G (p.Pro6Arg)
|
|
|
|
NM_021267.5(CERS1):c.181C>A (p.Leu61Met)
|
rs1330389032
|
|
|
NM_021267.5(CERS1):c.182T>C (p.Leu61Pro)
|
rs2146084156
|
|
|
NM_021267.5(CERS1):c.18_29del (p.3AAGP[1])
|
rs1026938291
|
|
|
NM_021267.5(CERS1):c.18_29dup (p.3AAGP[3])
|
rs1026938291
|
|
|
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.211A>G (p.Thr71Ala)
|
rs1427120932
|
|
|
NM_021267.5(CERS1):c.219_220insGGCTGGACCGCGCTG (p.Gly69_Leu73dup)
|
rs2056612675
|
|
|
NM_021267.5(CERS1):c.222C>G (p.Arg74=)
|
rs1601197228
|
|
|
NM_021267.5(CERS1):c.234T>A (p.Thr78=)
|
|
|
|
NM_021267.5(CERS1):c.248G>A (p.Arg83Gln)
|
rs1601197103
|
|
|
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.274C>T (p.Gln92Ter)
|
rs561672108
|
|
|
NM_021267.5(CERS1):c.288C>T (p.Ala96=)
|
|
|
|
NM_021267.5(CERS1):c.307G>A (p.Ala103Thr)
|
|
|
|
NM_021267.5(CERS1):c.307G>T (p.Ala103Ser)
|
rs755528875
|
|
|
NM_021267.5(CERS1):c.30_38del (p.Thr11_Pro13del)
|
rs2056619121
|
|
|
NM_021267.5(CERS1):c.312del (p.Ala103_Trp104insTer)
|
rs2146074561
|
|
|
NM_021267.5(CERS1):c.319C>G (p.Leu107Val)
|
rs1039358825
|
|
|
NM_021267.5(CERS1):c.350C>T (p.Ala117Val)
|
rs2146074403
|
|
|
NM_021267.5(CERS1):c.375C>T (p.Tyr125=)
|
|
|
|
NM_021267.5(CERS1):c.37C>A (p.Pro13Thr)
|
|
|
|
NM_021267.5(CERS1):c.387T>C (p.His129=)
|
rs2146074202
|
|
|
NM_021267.5(CERS1):c.398C>T (p.Ser133Phe)
|
rs1555707050
|
|
|
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.425T>A (p.Met142Lys)
|
rs1601173083
|
|
|
NM_021267.5(CERS1):c.429A>C (p.Ala143=)
|
rs200107216
|
|
|
NM_021267.5(CERS1):c.440A>G (p.Asp147Gly)
|
rs2056291546
|
|
|
NM_021267.5(CERS1):c.45C>T (p.Pro15=)
|
rs2146085011
|
|
|
NM_021267.5(CERS1):c.46A>G (p.Met16Val)
|
rs2146085001
|
|
|
NM_021267.5(CERS1):c.470G>A (p.Ser157Asn)
|
rs2146033428
|
|
|
NM_021267.5(CERS1):c.506T>C (p.Met169Thr)
|
|
|
|
NM_021267.5(CERS1):c.50C>T (p.Pro17Leu)
|
rs2056618624
|
|
|
NM_021267.5(CERS1):c.511A>G (p.Thr171Ala)
|
rs1295251261
|
|
|
NM_021267.5(CERS1):c.518G>A (p.Arg173His)
|
|
|
|
NM_021267.5(CERS1):c.527C>G (p.Ser176Trp)
|
rs555889038
|
|
|
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.549C>G (p.His183Gln)
|
rs200024180
|
|
|
NM_021267.5(CERS1):c.550G>A (p.Val184Met)
|
rs374308521
|
|
|
NM_021267.5(CERS1):c.550G>T (p.Val184Leu)
|
rs374308521
|
|
|
NM_021267.5(CERS1):c.557C>T (p.Thr186Ile)
|
rs1601172583
|
|
|
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.586T>A (p.Phe196Ile)
|
|
|
|
NM_021267.5(CERS1):c.590+11G>C
|
|
|
|
NM_021267.5(CERS1):c.590+14C>G
|
|
|
|
NM_021267.5(CERS1):c.590G>A (p.Arg197Gln)
|
rs758556990
|
|
|
NM_021267.5(CERS1):c.591-10G>T
|
|
|
|
NM_021267.5(CERS1):c.591-15C>T
|
rs780029381
|
|
|
NM_021267.5(CERS1):c.591-3del
|
|
|
|
NM_021267.5(CERS1):c.591-8T>A
|
|
|
|
NM_021267.5(CERS1):c.594C>T (p.Tyr198=)
|
|
|
|
NM_021267.5(CERS1):c.5CGG[4] (p.Ala4dup)
|
rs996708246
|
|
|
NM_021267.5(CERS1):c.608T>C (p.Ile203Thr)
|
rs1314252199
|
|
|
NM_021267.5(CERS1):c.610C>G (p.Leu204Val)
|
rs866186539
|
|
|
NM_021267.5(CERS1):c.630T>C (p.Asp210=)
|
|
|
|
NM_021267.5(CERS1):c.634A>G (p.Ser212Gly)
|
|
|
|
NM_021267.5(CERS1):c.637G>A (p.Asp213Asn)
|
rs2146018809
|
|
|
NM_021267.5(CERS1):c.667A>G (p.Ile223Val)
|
|
|
|
NM_021267.5(CERS1):c.66A>C (p.Leu22=)
|
rs1185015299
|
|
|
NM_021267.5(CERS1):c.683G>A (p.Arg228His)
|
rs777656031
|
|
|
NM_021267.5(CERS1):c.688G>A (p.Gly230Ser)
|
rs935097145
|
|
|
NM_021267.5(CERS1):c.700C>G (p.Arg234Gly)
|
rs767727206
|
|
|
NM_021267.5(CERS1):c.701G>A (p.Arg234Gln)
|
rs369297915
|
|
|
NM_021267.5(CERS1):c.701G>T (p.Arg234Leu)
|
rs369297915
|
|
|
NM_021267.5(CERS1):c.702G>A (p.Arg234=)
|
rs2146018471
|
|
|
NM_021267.5(CERS1):c.709G>A (p.Ala237Thr)
|
rs368637790
|
|
|
NM_021267.5(CERS1):c.709G>T (p.Ala237Ser)
|
rs368637790
|
|
|
NM_021267.5(CERS1):c.715_716delinsTT (p.Ala239Leu)
|
rs2146018425
|
|
|
NM_021267.5(CERS1):c.717A>G (p.Ala239=)
|
rs2056171735
|
|
|
NM_021267.5(CERS1):c.71_72delinsCC (p.Gln24Pro)
|
rs2146084865
|
|
|
NM_021267.5(CERS1):c.725T>C (p.Leu242Ser)
|
rs1601165243
|
|
|
NM_021267.5(CERS1):c.738C>G (p.Ser246Arg)
|
rs2056170861
|
|
|
NM_021267.5(CERS1):c.742G>A (p.Gly248Ser)
|
rs925482243
|
|
|
NM_021267.5(CERS1):c.74G>A (p.Arg25His)
|
rs2056617983
|
|
|
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.753-3C>A
|
|
|
|
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.805C>T (p.His269Tyr)
|
|
|
|
NM_021267.5(CERS1):c.816G>A (p.Leu272=)
|
rs2146013036
|
|
|
NM_021267.5(CERS1):c.81G>C (p.Trp27Cys)
|
|
|
|
NM_021267.5(CERS1):c.834C>T (p.Ile278=)
|
rs781327266
|
|
|
NM_021267.5(CERS1):c.835C>A (p.Pro279Thr)
|
rs368072339
|
|
|
NM_021267.5(CERS1):c.835C>G (p.Pro279Ala)
|
rs368072339
|
|
|
NM_021267.5(CERS1):c.840C>T (p.Phe280=)
|
|
|
|
NM_021267.5(CERS1):c.846C>T (p.Phe282=)
|
|
|
|
NM_021267.5(CERS1):c.851T>C (p.Phe284Ser)
|
rs1568297877
|
|
|
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.87C>G (p.Ser29Arg)
|
rs1275370347
|
|
|
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.903C>A (p.Tyr301Ter)
|
rs1601162007
|
|
|
NM_021267.5(CERS1):c.940G>T (p.Val314Leu)
|
|
|
|
NM_021267.5(CERS1):c.945C>G (p.His315Gln)
|
rs767643146
|
|
|
NM_021267.5(CERS1):c.951G>A (p.Leu317=)
|
|
|
|
NM_021267.5(CERS1):c.955G>A (p.Asp319Asn)
|
rs369933386
|
|
|
NM_021267.5(CERS1):c.958C>T (p.Leu320=)
|
rs1260273077
|
|
|
NM_021267.5(CERS1):c.961C>T (p.Arg321Trp)
|
rs770285954
|
|
|
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_022765.4(MICAL1):c.-43-1G>A
|
rs2115340270
|
|
|
NM_022765.4(MICAL1):c.1021G>A (p.Ala341Thr)
|
rs1775493179
|
|
|
NM_022765.4(MICAL1):c.2044del (p.Pro681_Leu682insTer)
|
rs553320791
|
|
|
NM_022765.4(MICAL1):c.2348C>G (p.Ser783Ter)
|
|
|
|
NM_022765.4(MICAL1):c.2462T>C (p.Leu821Pro)
|
rs755137933
|
|
|
NM_022765.4(MICAL1):c.763G>T (p.Val255Leu)
|
|
|
|
NM_032108.4(SEMA6B):c.1074C>A (p.Pro358=)
|
rs10422855
|
|
|
NM_032108.4(SEMA6B):c.1271+4G>T
|
|
|
|
NM_032108.4(SEMA6B):c.1534_1537del (p.Ala512fs)
|
rs2145347825
|
|
|
NM_032108.4(SEMA6B):c.1739-2A>G
|
|
|
|
NM_032108.4(SEMA6B):c.1873del (p.Arg625fs)
|
rs2145342843
|
|
|
NM_032108.4(SEMA6B):c.1950_1969dup (p.Arg657fs)
|
rs1977106116
|
|
|
NM_032108.4(SEMA6B):c.1976_1982del (p.Ala659fs)
|
rs1977105425
|
|
|
NM_032108.4(SEMA6B):c.1991del (p.Gly664fs)
|
rs1443687532
|
|
|
NM_032108.4(SEMA6B):c.2066G>A (p.Trp689Ter)
|
rs2145342438
|
|
|
NM_032108.4(SEMA6B):c.2086C>T (p.Gln696Ter)
|
|
|
|
NM_032108.4(SEMA6B):c.2372C>G (p.Pro791Arg)
|
|
|
|
NM_032178.3(SLC7A6OS):c.709T>C (p.Tyr237His)
|
rs2151239071
|
|
|
NM_032737.4(LMNB2):c.1016A>C (p.Glu339Ala)
|
rs778624588
|
|
|
NM_032737.4(LMNB2):c.1016A>T (p.Glu339Val)
|
|
|
|
NM_032737.4(LMNB2):c.1017G>A (p.Glu339=)
|
|
|
|
NM_032737.4(LMNB2):c.101C>T (p.Thr34Met)
|
rs1599345010
|
|
|
NM_032737.4(LMNB2):c.1026G>A (p.Met342Ile)
|
rs2145448355
|
|
|
NM_032737.4(LMNB2):c.1037G>A (p.Arg346Gln)
|
|
|
|
NM_032737.4(LMNB2):c.1041C>A (p.Asp347Glu)
|
rs1366067577
|
|
|
NM_032737.4(LMNB2):c.1041C>T (p.Asp347=)
|
rs1366067577
|
|
|
NM_032737.4(LMNB2):c.1047C>G (p.Phe349Leu)
|
rs1044762718
|
|
|
NM_032737.4(LMNB2):c.1055T>A (p.Met352Lys)
|
|
|
|
NM_032737.4(LMNB2):c.1090C>T (p.Arg364Trp)
|
rs1482825530
|
|
|
NM_032737.4(LMNB2):c.10C>T (p.Pro4Ser)
|
rs1345951078
|
|
|
NM_032737.4(LMNB2):c.1116C>T (p.Ala372=)
|
|
|
|
NM_032737.4(LMNB2):c.1126G>C (p.Glu376Gln)
|
rs370443310
|
|
|
NM_032737.4(LMNB2):c.1141A>C (p.Lys381Gln)
|
|
|
|
NM_032737.4(LMNB2):c.1198G>T (p.Glu400Ter)
|
rs1555683015
|
|
|
NM_032737.4(LMNB2):c.1202+10G>T
|
rs2145448177
|
|
|
NM_032737.4(LMNB2):c.1202+4C>G
|
rs756666958
|
|
|
NM_032737.4(LMNB2):c.1203-13G>A
|
|
|
|
NM_032737.4(LMNB2):c.1203-14T>A
|
rs1362758350
|
|
|
NM_032737.4(LMNB2):c.1203-17_1203-14del
|
rs764080802
|
|
|
NM_032737.4(LMNB2):c.1214C>T (p.Ser405Phe)
|
|
|
|
NM_032737.4(LMNB2):c.1216C>A (p.Pro406Thr)
|
rs1232802483
|
|
|
NM_032737.4(LMNB2):c.1220G>C (p.Ser407Thr)
|
rs755373660
|
|
|
NM_032737.4(LMNB2):c.1221C>A (p.Ser407Arg)
|
rs766553520
|
|
|
NM_032737.4(LMNB2):c.1229C>T (p.Ser410Leu)
|
|
|
|
NM_032737.4(LMNB2):c.1231C>T (p.Arg411Cys)
|
rs563283912
|
|
|
NM_032737.4(LMNB2):c.1232G>A (p.Arg411His)
|
rs138467082
|
|
|
NM_032737.4(LMNB2):c.1233C>A (p.Arg411=)
|
rs910442854
|
|
|
NM_032737.4(LMNB2):c.1244C>T (p.Ser415Leu)
|
rs201335788
|
|
|
NM_032737.4(LMNB2):c.1247G>A (p.Arg416Gln)
|
rs200293412
|
|
|
NM_032737.4(LMNB2):c.1250C>A (p.Ala417Asp)
|
rs2145447793
|
|
|
NM_032737.4(LMNB2):c.1251C>T (p.Ala417=)
|
rs2145447790
|
|
|
NM_032737.4(LMNB2):c.1252A>C (p.Thr418Pro)
|
|
|
|
NM_032737.4(LMNB2):c.1256C>G (p.Ser419Trp)
|
rs368949581
|
|
|
NM_032737.4(LMNB2):c.1266C>T (p.Ser422=)
|
|
|
|
NM_032737.4(LMNB2):c.1279G>T (p.Ala427Ser)
|
rs57521499
|
|
|
NM_032737.4(LMNB2):c.1285G>C (p.Gly429Arg)
|
|
|
|
NM_032737.4(LMNB2):c.1313G>A (p.Arg438Gln)
|
rs758913468
|
|
|
NM_032737.4(LMNB2):c.1326G>T (p.Glu442Asp)
|
|
|
|
NM_032737.4(LMNB2):c.1336G>A (p.Gly446Ser)
|
|
|
|
NM_032737.4(LMNB2):c.1337G>A (p.Gly446Asp)
|
|
|
|
NM_032737.4(LMNB2):c.1350C>A (p.Ser450Arg)
|
rs765785713
|
|
|
NM_032737.4(LMNB2):c.1354C>T (p.Leu452=)
|
|
|
|
NM_032737.4(LMNB2):c.1356G>A (p.Leu452=)
|
|
|
|
NM_032737.4(LMNB2):c.1361C>G (p.Thr454Arg)
|
|
|
|
NM_032737.4(LMNB2):c.1365C>G (p.Gly455=)
|
|
|
|
NM_032737.4(LMNB2):c.1369G>A (p.Gly457Ser)
|
|
|
|
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.1402G>A (p.Ala468Thr)
|
rs751465568
|
|
|
NM_032737.4(LMNB2):c.1404C>G (p.Ala468=)
|
|
|
|
NM_032737.4(LMNB2):c.1408G>A (p.Ala470Thr)
|
rs1971782310
|
|
|
NM_032737.4(LMNB2):c.1409C>T (p.Ala470Val)
|
|
|
|
NM_032737.4(LMNB2):c.1428C>T (p.Ile476=)
|
|
|
|
NM_032737.4(LMNB2):c.1429G>A (p.Glu477Lys)
|
|
|
|
NM_032737.4(LMNB2):c.1431G>A (p.Glu477=)
|
rs2145447443
|
|
|
NM_032737.4(LMNB2):c.1437C>T (p.Ile479=)
|
|
|
|
NM_032737.4(LMNB2):c.1444G>A (p.Glu482Lys)
|
|
|
|
NM_032737.4(LMNB2):c.1446G>A (p.Glu482=)
|
|
|
|
NM_032737.4(LMNB2):c.1467G>C (p.Lys489Asn)
|
rs1599331228
|
|
|
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.1496G>T (p.Gly499Val)
|
|
|
|
NM_032737.4(LMNB2):c.14G>A (p.Ser5Asn)
|
|
|
|
NM_032737.4(LMNB2):c.14G>T (p.Ser5Ile)
|
rs933753487
|
|
|
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.1528G>T (p.Gly510Trp)
|
rs779010033
|
|
|
NM_032737.4(LMNB2):c.1540G>A (p.Ala514Thr)
|
|
|
|
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.1554G>C (p.Thr518=)
|
rs11882908
|
|
|
NM_032737.4(LMNB2):c.1564A>G (p.Ile522Val)
|
|
|
|
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.157C>T (p.Leu53Phe)
|
rs1555684976
|
|
|
NM_032737.4(LMNB2):c.1581G>A (p.Gln527=)
|
|
|
|
NM_032737.4(LMNB2):c.1582A>C (p.Met528Leu)
|
|
|
|
NM_032737.4(LMNB2):c.1585G>A (p.Val529Ile)
|
|
|
|
NM_032737.4(LMNB2):c.1589C>T (p.Thr530Met)
|
|
|
|
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.1603G>A (p.Gly535Ser)
|
|
|
|
NM_032737.4(LMNB2):c.1606G>A (p.Ala536Thr)
|
|
|
|
NM_032737.4(LMNB2):c.1612G>C (p.Val538Leu)
|
rs2145444752
|
|
|
NM_032737.4(LMNB2):c.1618del (p.His540fs)
|
rs1971745538
|
|
|
NM_032737.4(LMNB2):c.1623C>A (p.Ser541Arg)
|
|
|
|
NM_032737.4(LMNB2):c.1624C>A (p.Pro542Thr)
|
rs759878071
|
|
|
NM_032737.4(LMNB2):c.1624C>T (p.Pro542Ser)
|
|
|
|
NM_032737.4(LMNB2):c.1629C>G (p.Pro543=)
|
rs149126950
|
|
|
NM_032737.4(LMNB2):c.1629C>T (p.Pro543=)
|
rs149126950
|
|
|
NM_032737.4(LMNB2):c.1658G>T (p.Ser553Ile)
|
|
|
|
NM_032737.4(LMNB2):c.1677C>G (p.Ser559Arg)
|
|
|
|
NM_032737.4(LMNB2):c.1682G>A (p.Arg561His)
|
rs145444042
|
|
|
NM_032737.4(LMNB2):c.1682G>T (p.Arg561Leu)
|
rs145444042
|
|
|
NM_032737.4(LMNB2):c.1693G>C (p.Val565Leu)
|
|
|
|
NM_032737.4(LMNB2):c.1699G>A (p.Ala567Thr)
|
rs760189690
|
|
|
NM_032737.4(LMNB2):c.16C>T (p.Pro6Ser)
|
rs900966872
|
|
|
NM_032737.4(LMNB2):c.1706G>A (p.Gly569Asp)
|
rs745499299
|
|
|
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.1720A>G (p.Met574Val)
|
rs1209932416
|
|
|
NM_032737.4(LMNB2):c.1729G>A (p.Val577Met)
|
|
|
|
NM_032737.4(LMNB2):c.1740C>T (p.Ser580=)
|
rs2145444255
|
|
|
NM_032737.4(LMNB2):c.1743G>A (p.Ser581=)
|
|
|
|
NM_032737.4(LMNB2):c.1744G>A (p.Val582Met)
|
|
|
|
NM_032737.4(LMNB2):c.1749G>A (p.Met583Ile)
|
rs139812127
|
|
|
NM_032737.4(LMNB2):c.1749G>T (p.Met583Ile)
|
rs139812127
|
|
|
NM_032737.4(LMNB2):c.1755G>C (p.Glu585Asp)
|
|
|
|
NM_032737.4(LMNB2):c.1776G>A (p.Glu592=)
|
rs1555682686
|
|
|
NM_032737.4(LMNB2):c.1776GGA[2] (p.Glu595del)
|
rs777407254
|
|
|
NM_032737.4(LMNB2):c.177C>A (p.His59Gln)
|
rs1437745175
|
|
|
NM_032737.4(LMNB2):c.1787C>G (p.Ala596Gly)
|
|
|
|
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.1822G>A (p.Gly608Arg)
|
rs1971731802
|
|
|
NM_032737.4(LMNB2):c.1830G>T (p.Pro610=)
|
rs748782215
|
|
|
NM_032737.4(LMNB2):c.1835C>T (p.Thr612Ile)
|
|
|
|
NM_032737.4(LMNB2):c.1847G>T (p.Gly616Val)
|
|
|
|
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.260G>A (p.Arg87His)
|
|
|
|
NM_032737.4(LMNB2):c.264+5G>T
|
|
|
|
NM_032737.4(LMNB2):c.264+9del
|
rs2145479184
|
|
|
NM_032737.4(LMNB2):c.272G>A (p.Gly91Asp)
|
|
|
|
NM_032737.4(LMNB2):c.27T>C (p.Arg9=)
|
|
|
|
NM_032737.4(LMNB2):c.281C>G (p.Ala94Gly)
|
|
|
|
NM_032737.4(LMNB2):c.282G>A (p.Ala94=)
|
rs756740513
|
|
|
NM_032737.4(LMNB2):c.284T>G (p.Leu95Arg)
|
rs2145462859
|
|
|
NM_032737.4(LMNB2):c.293C>T (p.Ser98Leu)
|
|
|
|
NM_032737.4(LMNB2):c.29G>T (p.Arg10Leu)
|
rs984068789
|
|
|
NM_032737.4(LMNB2):c.302C>T (p.Ala101Val)
|
rs2145462818
|
|
|
NM_032737.4(LMNB2):c.309C>T (p.Ala103=)
|
rs2145462802
|
|
|
NM_032737.4(LMNB2):c.310C>G (p.Arg104Gly)
|
|
|
|
NM_032737.4(LMNB2):c.310C>T (p.Arg104Trp)
|
rs150333146
|
|
|
NM_032737.4(LMNB2):c.311G>A (p.Arg104Gln)
|
rs1004998035
|
|
|
NM_032737.4(LMNB2):c.311G>T (p.Arg104Leu)
|
rs1004998035
|
|
|
NM_032737.4(LMNB2):c.331G>T (p.Ala111Ser)
|
rs1599338116
|
|
|
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.35A>C (p.Gln12Pro)
|
rs1972098113
|
|
|
NM_032737.4(LMNB2):c.37C>T (p.Arg13Cys)
|
rs1296402064
|
|
|
NM_032737.4(LMNB2):c.391G>A (p.Val131Ile)
|
|
|
|
NM_032737.4(LMNB2):c.395_396delinsTA (p.Asn132Ile)
|
|
|
|
NM_032737.4(LMNB2):c.402-18_402-3del
|
rs1971855692
|
|
|
NM_032737.4(LMNB2):c.402C>A (p.Ser134Arg)
|
rs148213507
|
|
|
NM_032737.4(LMNB2):c.402C>T (p.Ser134=)
|
rs148213507
|
|
|
NM_032737.4(LMNB2):c.404C>T (p.Ala135Val)
|
|
|
|
NM_032737.4(LMNB2):c.40A>G (p.Arg14Gly)
|
|
|
|
NM_032737.4(LMNB2):c.417G>A (p.Glu139=)
|
|
|
|
NM_032737.4(LMNB2):c.418G>A (p.Gly140Ser)
|
rs1279810346
|
|
|
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.437A>G (p.Gln146Arg)
|
|
|
|
NM_032737.4(LMNB2):c.43C>T (p.Pro15Ser)
|
rs2145479547
|
|
|
NM_032737.4(LMNB2):c.457G>A (p.Glu153Lys)
|
rs1568204139
|
|
|
NM_032737.4(LMNB2):c.469C>T (p.His157Tyr)
|
rs797045143
|
|
|
NM_032737.4(LMNB2):c.477C>A (p.Ser159Arg)
|
rs923000484
|
|
|
NM_032737.4(LMNB2):c.477C>G (p.Ser159Arg)
|
|
|
|
NM_032737.4(LMNB2):c.481G>A (p.Val161Met)
|
|
|
|
NM_032737.4(LMNB2):c.481G>C (p.Val161Leu)
|
rs752878483
|
|
|
NM_032737.4(LMNB2):c.489G>A (p.Leu163=)
|
|
|
|
NM_032737.4(LMNB2):c.492A>T (p.Ala164=)
|
rs1216335145
|
|
|
NM_032737.4(LMNB2):c.493G>T (p.Ala165Ser)
|
rs751675653
|
|
|
NM_032737.4(LMNB2):c.49G>T (p.Ala17Ser)
|
rs1374097743
|
|
|
NM_032737.4(LMNB2):c.503G>A (p.Ser168Asn)
|
|
|
|
NM_032737.4(LMNB2):c.512G>T (p.Arg171Leu)
|
rs776205964
|
|
|
NM_032737.4(LMNB2):c.517C>A (p.Leu173Met)
|
rs771818418
|
|
|
NM_032737.4(LMNB2):c.53C>T (p.Ala18Val)
|
|
|
|
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.559-2A>G
|
rs1971851890
|
|
|
NM_032737.4(LMNB2):c.559-5C>G
|
rs748713561
|
|
|
NM_032737.4(LMNB2):c.559-7C>T
|
rs2145454276
|
|
|
NM_032737.4(LMNB2):c.568G>A (p.Gly190Ser)
|
|
|
|
NM_032737.4(LMNB2):c.568G>C (p.Gly190Arg)
|
|
|
|
NM_032737.4(LMNB2):c.572A>G (p.His191Arg)
|
rs1971851658
|
|
|
NM_032737.4(LMNB2):c.580G>C (p.Ala194Pro)
|
rs746027881
|
|
|
NM_032737.4(LMNB2):c.592C>A (p.Leu198Met)
|
rs1971851307
|
|
|
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.605C>T (p.Thr202Met)
|
rs763985079
|
|
|
NM_032737.4(LMNB2):c.609G>A (p.Leu203=)
|
|
|
|
NM_032737.4(LMNB2):c.617T>C (p.Val206Ala)
|
rs1971850872
|
|
|
NM_032737.4(LMNB2):c.631C>T (p.Arg211Cys)
|
|
|
|
NM_032737.4(LMNB2):c.645G>T (p.Leu215=)
|
|
|
|
NM_032737.4(LMNB2):c.658G>C (p.Asp220His)
|
rs1568203965
|
|
|
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+1G>A
|
rs2145454060
|
|
|
NM_032737.4(LMNB2):c.684+20T>C
|
|
|
|
NM_032737.4(LMNB2):c.684+3G>A
|
rs2145454055
|
|
|
NM_032737.4(LMNB2):c.685-18C>T
|
|
|
|
NM_032737.4(LMNB2):c.685-8G>A
|
rs1284688903
|
|
|
NM_032737.4(LMNB2):c.687G>T (p.Glu229Asp)
|
|
|
|
NM_032737.4(LMNB2):c.694G>A (p.Glu232Lys)
|
rs1971807508
|
|
|
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.701G>A (p.Arg234Gln)
|
|
|
|
NM_032737.4(LMNB2):c.705_719del (p.Arg236_Arg240del)
|
rs2145449457
|
|
|
NM_032737.4(LMNB2):c.707G>A (p.Arg236Gln)
|
|
|
|
NM_032737.4(LMNB2):c.713A>T (p.Glu238Val)
|
rs2145449474
|
|
|
NM_032737.4(LMNB2):c.716G>A (p.Arg239Gln)
|
|
|
|
NM_032737.4(LMNB2):c.719G>A (p.Arg240His)
|
|
|
|
NM_032737.4(LMNB2):c.726G>A (p.Val242=)
|
rs2145449438
|
|
|
NM_032737.4(LMNB2):c.733G>A (p.Asp245Asn)
|
rs2145449419
|
|
|
NM_032737.4(LMNB2):c.738C>T (p.Ser246=)
|
rs1971806243
|
|
|
NM_032737.4(LMNB2):c.739A>C (p.Ser247Arg)
|
|
|
|
NM_032737.4(LMNB2):c.73C>G (p.Leu25Val)
|
|
|
|
NM_032737.4(LMNB2):c.757_759del (p.Asp253del)
|
rs780771322
|
|
|
NM_032737.4(LMNB2):c.772C>T (p.Gln258Ter)
|
rs2145449340
|
|
|
NM_032737.4(LMNB2):c.798G>A (p.Gln266=)
|
|
|
|
NM_032737.4(LMNB2):c.801C>T (p.His267=)
|
|
|
|
NM_032737.4(LMNB2):c.814C>T (p.Arg272Trp)
|
|
|
|
NM_032737.4(LMNB2):c.819C>T (p.Leu273=)
|
rs1971804535
|
|
|
NM_032737.4(LMNB2):c.836A>T (p.Glu279Val)
|
|
|
|
NM_032737.4(LMNB2):c.843C>G (p.Thr281=)
|
rs1043055908
|
|
|
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.863G>A (p.Ser288Asn)
|
rs1971801033
|
|
|
NM_032737.4(LMNB2):c.886A>C (p.Asn296His)
|
rs1568202409
|
|
|
NM_032737.4(LMNB2):c.8C>G (p.Pro3Arg)
|
rs1972098760
|
|
|
NM_032737.4(LMNB2):c.912C>A (p.Arg304=)
|
rs202001996
|
|
|
NM_032737.4(LMNB2):c.912C>T (p.Arg304=)
|
|
|
|
NM_032737.4(LMNB2):c.931C>T (p.Arg311Cys)
|
|
|
|
NM_032737.4(LMNB2):c.942G>A (p.Leu314=)
|
rs2145448846
|
|
|
NM_032737.4(LMNB2):c.949C>T (p.Leu317Phe)
|
|
|
|
NM_032737.4(LMNB2):c.955T>C (p.Tyr319His)
|
rs1971799552
|
|
|
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_032737.4(LMNB2):c.991G>A (p.Ala331Thr)
|
rs1437865965
|
|
|
NM_144633.3(KCNH8):c.298T>C (p.Tyr100His)
|
|
|
|
NM_153026.3(PRICKLE1):c.*142G>A
|
rs886049374
|
|
|
NM_153026.3(PRICKLE1):c.*552del
|
rs68074167
|
|
|
NM_153026.3(PRICKLE1):c.-122CGCAGCCC[3]
|
rs561368128
|
|
|
NM_153026.3(PRICKLE1):c.101C>T (p.Ala34Val)
|
rs139176541
|
|
|
NM_153026.3(PRICKLE1):c.1029A>C (p.Ala343=)
|
|
|
|
NM_153026.3(PRICKLE1):c.1032T>G (p.Asp344Glu)
|
|
|
|
NM_153026.3(PRICKLE1):c.1035G>A (p.Gln345=)
|
|
|
|
NM_153026.3(PRICKLE1):c.1036T>C (p.Cys346Arg)
|
|
|
|
NM_153026.3(PRICKLE1):c.1050C>T (p.Leu350=)
|
|
|
|
NM_153026.3(PRICKLE1):c.1060C>T (p.Pro354Ser)
|
rs1938033219
|
|
|
NM_153026.3(PRICKLE1):c.1088_1089delinsAT (p.Leu363His)
|
rs1938031733
|
|
|
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.10G>A (p.Glu4Lys)
|
|
|
|
NM_153026.3(PRICKLE1):c.1109C>A (p.Thr370Asn)
|
|
|
|
NM_153026.3(PRICKLE1):c.1124T>C (p.Leu375Ser)
|
rs1239638305
|
|
|
NM_153026.3(PRICKLE1):c.1137T>A (p.Ser379Arg)
|
rs1938026797
|
|
|
NM_153026.3(PRICKLE1):c.1154C>T (p.Thr385Ile)
|
rs2140101481
|
|
|
NM_153026.3(PRICKLE1):c.1173A>C (p.Glu391Asp)
|
rs1938025035
|
|
|
NM_153026.3(PRICKLE1):c.1192G>C (p.Glu398Gln)
|
rs2140101412
|
|
|
NM_153026.3(PRICKLE1):c.1213C>G (p.Pro405Ala)
|
|
|
|
NM_153026.3(PRICKLE1):c.1219G>A (p.Glu407Lys)
|
rs2140101302
|
|
|
NM_153026.3(PRICKLE1):c.1230T>A (p.Asp410Glu)
|
|
|
|
NM_153026.3(PRICKLE1):c.1230T>C (p.Asp410=)
|
rs2140101257
|
|
|
NM_153026.3(PRICKLE1):c.1240T>C (p.Tyr414His)
|
rs1938022245
|
|
|
NM_153026.3(PRICKLE1):c.1242T>C (p.Tyr414=)
|
rs2140101201
|
|
|
NM_153026.3(PRICKLE1):c.1255C>T (p.Leu419Phe)
|
rs1261183051
|
|
|
NM_153026.3(PRICKLE1):c.1258C>T (p.Leu420Phe)
|
rs2140101132
|
|
|
NM_153026.3(PRICKLE1):c.1260C>T (p.Leu420=)
|
|
|
|
NM_153026.3(PRICKLE1):c.1271A>G (p.Asp424Gly)
|
rs1938019653
|
|
|
NM_153026.3(PRICKLE1):c.1276A>G (p.Ser426Gly)
|
|
|
|
NM_153026.3(PRICKLE1):c.1281C>T (p.Leu427=)
|
|
|
|
NM_153026.3(PRICKLE1):c.1288C>T (p.Pro430Ser)
|
rs1311851345
|
|
|
NM_153026.3(PRICKLE1):c.128A>G (p.Glu43Gly)
|
rs1938359399
|
|
|
NM_153026.3(PRICKLE1):c.1299T>A (p.Asn433Lys)
|
|
|
|
NM_153026.3(PRICKLE1):c.1302G>T (p.Glu434Asp)
|
|
|
|
NM_153026.3(PRICKLE1):c.1304T>C (p.Met435Thr)
|
|
|
|
NM_153026.3(PRICKLE1):c.1311T>C (p.Ile437=)
|
rs1938016409
|
|
|
NM_153026.3(PRICKLE1):c.1313G>C (p.Arg438Pro)
|
rs1306531699
|
|
|
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.132+3dup
|
|
|
|
NM_153026.3(PRICKLE1):c.1323G>A (p.Glu441=)
|
|
|
|
NM_153026.3(PRICKLE1):c.1327T>C (p.Trp443Arg)
|
rs767486612
|
|
|
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.1330A>G (p.Ile444Val)
|
rs146199468
|
|
|
NM_153026.3(PRICKLE1):c.1345G>T (p.Val449Phe)
|
|
|
|
NM_153026.3(PRICKLE1):c.1346T>C (p.Val449Ala)
|
|
|
|
NM_153026.3(PRICKLE1):c.1362G>A (p.Glu454=)
|
|
|
|
NM_153026.3(PRICKLE1):c.139del (p.Leu47fs)
|
rs1555230922
|
|
|
NM_153026.3(PRICKLE1):c.1404G>A (p.Gln468=)
|
|
|
|
NM_153026.3(PRICKLE1):c.1413_1414delinsTC (p.Met471_Tyr472delinsIleHis)
|
rs1060502985
|
|
|
NM_153026.3(PRICKLE1):c.1414T>C (p.Tyr472His)
|
rs281865564
|
|
|
NM_153026.3(PRICKLE1):c.1424A>G (p.Gln475Arg)
|
|
|
|
NM_153026.3(PRICKLE1):c.1425G>T (p.Gln475His)
|
rs1938007089
|
|
|
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.1474G>A (p.Ala492Thr)
|
rs2140100316
|
|
|
NM_153026.3(PRICKLE1):c.14T>C (p.Met5Thr)
|
|
|
|
NM_153026.3(PRICKLE1):c.1522G>C (p.Gly508Arg)
|
rs1937999932
|
|
|
NM_153026.3(PRICKLE1):c.1533T>C (p.His511=)
|
rs1937999651
|
|
|
NM_153026.3(PRICKLE1):c.1543C>T (p.Gln515Ter)
|
rs1937999343
|
|
|
NM_153026.3(PRICKLE1):c.154T>G (p.Leu52Val)
|
|
|
|
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.1571_1573dup (p.Leu524dup)
|
rs1937998007
|
|
|
NM_153026.3(PRICKLE1):c.1595G>A (p.Ser532Asn)
|
rs778765052
|
|
|
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.1600C>T (p.Arg534Trp)
|
rs936545109
|
|
|
NM_153026.3(PRICKLE1):c.1608G>T (p.Ser536=)
|
|
|
|
NM_153026.3(PRICKLE1):c.1613A>G (p.Asp538Gly)
|
|
|
|
NM_153026.3(PRICKLE1):c.1621G>T (p.Ala541Ser)
|
rs763169354
|
|
|
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.162G>A (p.Glu54=)
|
rs1593113981
|
|
|
NM_153026.3(PRICKLE1):c.162G>T (p.Glu54Asp)
|
rs1593113981
|
|
|
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.1640-14G>A
|
rs2140088689
|
|
|
NM_153026.3(PRICKLE1):c.1640-20T>A
|
rs2140088702
|
|
|
NM_153026.3(PRICKLE1):c.1640-9C>G
|
|
|
|
NM_153026.3(PRICKLE1):c.1640G>A (p.Gly547Glu)
|
|
|
|
NM_153026.3(PRICKLE1):c.1653T>C (p.Asp551=)
|
|
|
|
NM_153026.3(PRICKLE1):c.1655G>A (p.Gly552Glu)
|
rs1055556905
|
|
|
NM_153026.3(PRICKLE1):c.1660A>C (p.Asn554His)
|
|
|
|
NM_153026.3(PRICKLE1):c.1678T>C (p.Leu560=)
|
|
|
|
NM_153026.3(PRICKLE1):c.1686T>G (p.Ser562=)
|
rs955717976
|
|
|
NM_153026.3(PRICKLE1):c.1688T>C (p.Leu563Pro)
|
rs1002543932
|
|
|
NM_153026.3(PRICKLE1):c.1714_1715del (p.Glu572fs)
|
rs2140088272
|
|
|
NM_153026.3(PRICKLE1):c.1736A>G (p.Asn579Ser)
|
|
|
|
NM_153026.3(PRICKLE1):c.174T>G (p.Pro58=)
|
|
|
|
NM_153026.3(PRICKLE1):c.1767C>G (p.His589Gln)
|
|
|
|
NM_153026.3(PRICKLE1):c.1771A>G (p.Ser591Gly)
|
rs1593100814
|
|
|
NM_153026.3(PRICKLE1):c.1788G>T (p.Lys596Asn)
|
rs1937785933
|
|
|
NM_153026.3(PRICKLE1):c.1799C>T (p.Ser600Leu)
|
|
|
|
NM_153026.3(PRICKLE1):c.1800A>G (p.Ser600=)
|
|
|
|
NM_153026.3(PRICKLE1):c.1807T>C (p.Cys603Arg)
|
rs1937784313
|
|
|
NM_153026.3(PRICKLE1):c.1824G>T (p.Leu608=)
|
|
|
|
NM_153026.3(PRICKLE1):c.1826C>T (p.Pro609Leu)
|
rs1937783195
|
|
|
NM_153026.3(PRICKLE1):c.1851A>T (p.Pro617=)
|
rs2140087611
|
|
|
NM_153026.3(PRICKLE1):c.1858A>G (p.Arg620Gly)
|
|
|
|
NM_153026.3(PRICKLE1):c.1866C>G (p.Ser622=)
|
|
|
|
NM_153026.3(PRICKLE1):c.1868A>G (p.Lys623Arg)
|
rs1937780289
|
|
|
NM_153026.3(PRICKLE1):c.1869G>C (p.Lys623Asn)
|
rs150809651
|
|
|
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.1899T>G (p.Phe633Leu)
|
rs3747563
|
|
|
NM_153026.3(PRICKLE1):c.1901_1902delinsGC (p.Ser634Cys)
|
|
|
|
NM_153026.3(PRICKLE1):c.1908T>C (p.Asp636=)
|
rs2140087363
|
|
|
NM_153026.3(PRICKLE1):c.191G>A (p.Gly64Glu)
|
|
|
|
NM_153026.3(PRICKLE1):c.1942C>T (p.Arg648Trp)
|
rs370129051
|
|
|
NM_153026.3(PRICKLE1):c.1943G>A (p.Arg648Gln)
|
rs1937776331
|
|
|
NM_153026.3(PRICKLE1):c.1944G>A (p.Arg648=)
|
rs2140087181
|
|
|
NM_153026.3(PRICKLE1):c.1952C>T (p.Pro651Leu)
|
rs750913400
|
|
|
NM_153026.3(PRICKLE1):c.1956G>T (p.Met652Ile)
|
rs2140087105
|
|
|
NM_153026.3(PRICKLE1):c.1970G>A (p.Arg657Gln)
|
|
|
|
NM_153026.3(PRICKLE1):c.1971G>A (p.Arg657=)
|
rs2140086977
|
|
|
NM_153026.3(PRICKLE1):c.1985_1996delinsG (p.Asn662fs)
|
rs1937772079
|
|
|
NM_153026.3(PRICKLE1):c.1989T>C (p.Phe663=)
|
rs1555229340
|
|
|
NM_153026.3(PRICKLE1):c.199C>A (p.His67Asn)
|
rs2140119023
|
|
|
NM_153026.3(PRICKLE1):c.2012A>T (p.His671Leu)
|
rs1555229335
|
|
|
NM_153026.3(PRICKLE1):c.2020C>T (p.Arg674Cys)
|
|
|
|
NM_153026.3(PRICKLE1):c.2021G>A (p.Arg674His)
|
rs748173327
|
|
|
NM_153026.3(PRICKLE1):c.2026C>T (p.Arg676Trp)
|
rs779314205
|
|
|
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.202C>T (p.Arg68Trp)
|
|
|
|
NM_153026.3(PRICKLE1):c.2031A>T (p.Arg677Ser)
|
|
|
|
NM_153026.3(PRICKLE1):c.2050G>A (p.Asp684Asn)
|
|
|
|
NM_153026.3(PRICKLE1):c.2053A>G (p.Asn685Asp)
|
|
|
|
NM_153026.3(PRICKLE1):c.2054A>G (p.Asn685Ser)
|
|
|
|
NM_153026.3(PRICKLE1):c.205A>G (p.Ile69Val)
|
rs1938264291
|
|
|
NM_153026.3(PRICKLE1):c.2089C>T (p.Pro697Ser)
|
rs781672373
|
|
|
NM_153026.3(PRICKLE1):c.2091C>G (p.Pro697=)
|
|
|
|
NM_153026.3(PRICKLE1):c.2097C>A (p.Asp699Glu)
|
rs1555229289
|
|
|
NM_153026.3(PRICKLE1):c.2107C>G (p.Leu703Val)
|
rs1937760935
|
|
|
NM_153026.3(PRICKLE1):c.2109G>C (p.Leu703=)
|
rs955109457
|
|
|
NM_153026.3(PRICKLE1):c.2111A>T (p.Tyr704Phe)
|
|
|
|
NM_153026.3(PRICKLE1):c.2115C>T (p.Thr705=)
|
|
|
|
NM_153026.3(PRICKLE1):c.2116C>T (p.Pro706Ser)
|
|
|
|
NM_153026.3(PRICKLE1):c.2118C>T (p.Pro706=)
|
|
|
|
NM_153026.3(PRICKLE1):c.2122A>G (p.Asn708Asp)
|
rs371991440
|
|
|
NM_153026.3(PRICKLE1):c.2141_2142delinsTT (p.Gln714Leu)
|
rs1937756868
|
|
|
NM_153026.3(PRICKLE1):c.2145T>A (p.Asn715Lys)
|
|
|
|
NM_153026.3(PRICKLE1):c.214C>G (p.Leu72Val)
|
rs925234164
|
|
|
NM_153026.3(PRICKLE1):c.2156G>T (p.Arg719Leu)
|
rs779059953
|
|
|
NM_153026.3(PRICKLE1):c.2160G>A (p.Glu720=)
|
rs1593099876
|
|
|
NM_153026.3(PRICKLE1):c.2163C>G (p.Ile721Met)
|
rs1273178828
|
|
|
NM_153026.3(PRICKLE1):c.2195_2203del (p.Gly732_Tyr734del)
|
rs1333451337
|
|
|
NM_153026.3(PRICKLE1):c.220T>A (p.Tyr74Asn)
|
|
|
|
NM_153026.3(PRICKLE1):c.2218G>A (p.Asp740Asn)
|
|
|
|
NM_153026.3(PRICKLE1):c.2218G>T (p.Asp740Tyr)
|
rs760738396
|
|
|
NM_153026.3(PRICKLE1):c.2225G>T (p.Gly742Val)
|
rs1180000042
|
|
|
NM_153026.3(PRICKLE1):c.2229G>A (p.Leu743=)
|
rs2140085472
|
|
|
NM_153026.3(PRICKLE1):c.2245A>C (p.Asn749His)
|
rs1937748497
|
|
|
NM_153026.3(PRICKLE1):c.2255T>C (p.Leu752Pro)
|
rs2140085364
|
|
|
NM_153026.3(PRICKLE1):c.2266G>C (p.Gly756Arg)
|
rs777019107
|
|
|
NM_153026.3(PRICKLE1):c.2272GAT[2] (p.Asp760del)
|
rs557205452
|
|
|
NM_153026.3(PRICKLE1):c.2297C>T (p.Ser766Phe)
|
rs1937743406
|
|
|
NM_153026.3(PRICKLE1):c.2324A>G (p.Glu775Gly)
|
rs1239945627
|
|
|
NM_153026.3(PRICKLE1):c.234A>C (p.Pro78=)
|
|
|
|
NM_153026.3(PRICKLE1):c.2360G>A (p.Arg787Gln)
|
rs776819993
|
|
|
NM_153026.3(PRICKLE1):c.237T>G (p.His79Gln)
|
rs2140118839
|
|
|
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.2401C>T (p.Pro801Ser)
|
|
|
|
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.2413C>G (p.Leu805Val)
|
rs2140084269
|
|
|
NM_153026.3(PRICKLE1):c.2420C>T (p.Thr807Ile)
|
|
|
|
NM_153026.3(PRICKLE1):c.2423C>T (p.Pro808Leu)
|
rs2140084244
|
|
|
NM_153026.3(PRICKLE1):c.2458A>C (p.Lys820Gln)
|
rs1342604313
|
|
|
NM_153026.3(PRICKLE1):c.2459A>G (p.Lys820Arg)
|
rs1798772229
|
|
|
NM_153026.3(PRICKLE1):c.246+20G>T
|
|
|
|
NM_153026.3(PRICKLE1):c.2473G>A (p.Gly825Ser)
|
rs1555229171
|
|
|
NM_153026.3(PRICKLE1):c.2475C>G (p.Gly825=)
|
rs1593099130
|
|
|
NM_153026.3(PRICKLE1):c.250C>T (p.Arg84Trp)
|
rs775472022
|
|
|
NM_153026.3(PRICKLE1):c.266T>A (p.Leu89Ter)
|
rs868235074
|
|
|
NM_153026.3(PRICKLE1):c.274G>A (p.Glu92Lys)
|
|
|
|
NM_153026.3(PRICKLE1):c.27G>A (p.Met9Ile)
|
rs1938365238
|
|
|
NM_153026.3(PRICKLE1):c.287_288del (p.Glu96fs)
|
rs1938233902
|
|
|
NM_153026.3(PRICKLE1):c.319G>C (p.Glu107Gln)
|
rs1938232548
|
|
|
NM_153026.3(PRICKLE1):c.327G>A (p.Leu109=)
|
|
|
|
NM_153026.3(PRICKLE1):c.341T>C (p.Ile114Thr)
|
|
|
|
NM_153026.3(PRICKLE1):c.364A>G (p.Met122Val)
|
rs1343849513
|
|
|
NM_153026.3(PRICKLE1):c.372T>C (p.Ala124=)
|
rs2140116274
|
|
|
NM_153026.3(PRICKLE1):c.373G>A (p.Val125Met)
|
|
|
|
NM_153026.3(PRICKLE1):c.379_380insT (p.Glu127fs)
|
rs1938228955
|
|
|
NM_153026.3(PRICKLE1):c.384+11C>T
|
|
|
|
NM_153026.3(PRICKLE1):c.384+3G>A
|
rs2140116219
|
|
|
NM_153026.3(PRICKLE1):c.384+6C>A
|
rs764025084
|
|
|
NM_153026.3(PRICKLE1):c.385-7T>C
|
rs2140114516
|
|
|
NM_153026.3(PRICKLE1):c.391T>C (p.Leu131=)
|
|
|
|
NM_153026.3(PRICKLE1):c.399A>G (p.Ile133Met)
|
|
|
|
NM_153026.3(PRICKLE1):c.3G>A (p.Met1Ile)
|
rs1593116403
|
|
|
NM_153026.3(PRICKLE1):c.406G>A (p.Gly136Ser)
|
rs773739764
|
|
|
NM_153026.3(PRICKLE1):c.415G>A (p.Ala139Thr)
|
rs1938205447
|
|
|
NM_153026.3(PRICKLE1):c.430C>T (p.Arg144Cys)
|
rs1284958285
|
|
|
NM_153026.3(PRICKLE1):c.431G>T (p.Arg144Leu)
|
rs281865563
|
|
|
NM_153026.3(PRICKLE1):c.433G>A (p.Ala145Thr)
|
rs1938203596
|
|
|
NM_153026.3(PRICKLE1):c.439C>T (p.Pro147Ser)
|
rs1938202392
|
|
|
NM_153026.3(PRICKLE1):c.444T>G (p.Gly148=)
|
rs1060504780
|
|
|
NM_153026.3(PRICKLE1):c.448T>C (p.Cys150Arg)
|
rs1566084587
|
|
|
NM_153026.3(PRICKLE1):c.458del (p.Pro153fs)
|
|
|
|
NM_153026.3(PRICKLE1):c.461C>T (p.Ser154Phe)
|
rs1938200477
|
|
|
NM_153026.3(PRICKLE1):c.473del (p.Cys158fs)
|
rs1938199369
|
|
|
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.499G>A (p.Asp167Asn)
|
rs2140113781
|
|
|
NM_153026.3(PRICKLE1):c.509A>G (p.Tyr170Cys)
|
rs771717707
|
|
|
NM_153026.3(PRICKLE1):c.51G>A (p.Gln17=)
|
|
|
|
NM_153026.3(PRICKLE1):c.522T>C (p.Asp174=)
|
rs2140113680
|
|
|
NM_153026.3(PRICKLE1):c.540C>T (p.Gly180=)
|
rs1938195548
|
|
|
NM_153026.3(PRICKLE1):c.55A>G (p.Ser19Gly)
|
|
|
|
NM_153026.3(PRICKLE1):c.568C>T (p.Arg190Trp)
|
rs2140113478
|
|
|
NM_153026.3(PRICKLE1):c.586G>A (p.Glu196Lys)
|
rs759969939
|
|
|
NM_153026.3(PRICKLE1):c.588+10del
|
rs766626651
|
|
|
NM_153026.3(PRICKLE1):c.588+10dup
|
rs766626651
|
|
|
NM_153026.3(PRICKLE1):c.588+11G>C
|
rs1566084330
|
|
|
NM_153026.3(PRICKLE1):c.588+17C>T
|
|
|
|
NM_153026.3(PRICKLE1):c.588+5A>C
|
rs1593111486
|
|
|
NM_153026.3(PRICKLE1):c.588+6A>C
|
|
|
|
NM_153026.3(PRICKLE1):c.588+8A>G
|
rs1413160382
|
|
|
NM_153026.3(PRICKLE1):c.589-9T>G
|
rs2140106433
|
|
|
NM_153026.3(PRICKLE1):c.590T>C (p.Ile197Thr)
|
rs542029566
|
|
|
NM_153026.3(PRICKLE1):c.611C>T (p.Thr204Ile)
|
|
|
|
NM_153026.3(PRICKLE1):c.673C>T (p.Leu225=)
|
|
|
|
NM_153026.3(PRICKLE1):c.689A>G (p.Tyr230Cys)
|
rs773561952
|
|
|
NM_153026.3(PRICKLE1):c.707G>T (p.Arg236Leu)
|
rs1457774536
|
|
|
NM_153026.3(PRICKLE1):c.713T>C (p.Phe238Ser)
|
rs796052930
|
|
|
NM_153026.3(PRICKLE1):c.718T>A (p.Cys240Ser)
|
|
|
|
NM_153026.3(PRICKLE1):c.72T>G (p.Asp24Glu)
|
rs1566087431
|
|
|
NM_153026.3(PRICKLE1):c.740A>G (p.Tyr247Cys)
|
|
|
|
NM_153026.3(PRICKLE1):c.743C>T (p.Ala248Val)
|
rs1566082169
|
|
|
NM_153026.3(PRICKLE1):c.746A>C (p.Glu249Ala)
|
|
|
|
NM_153026.3(PRICKLE1):c.758_759delinsAA (p.Thr253Lys)
|
|
|
|
NM_153026.3(PRICKLE1):c.764G>A (p.Gly255Glu)
|
|
|
|
NM_153026.3(PRICKLE1):c.772A>G (p.Ile258Val)
|
|
|
|
NM_153026.3(PRICKLE1):c.773T>C (p.Ile258Thr)
|
rs1938088327
|
|
|
NM_153026.3(PRICKLE1):c.774T>C (p.Ile258=)
|
|
|
|
NM_153026.3(PRICKLE1):c.775+3A>G
|
|
|
|
NM_153026.3(PRICKLE1):c.775+9_775+18del
|
rs769446547
|
|
|
NM_153026.3(PRICKLE1):c.776-14C>T
|
rs527292011
|
|
|
NM_153026.3(PRICKLE1):c.776G>A (p.Gly259Asp)
|
rs1555230194
|
|
|
NM_153026.3(PRICKLE1):c.817C>T (p.His273Tyr)
|
|
|
|
NM_153026.3(PRICKLE1):c.820G>C (p.Ala274Pro)
|
rs762434475
|
|
|
NM_153026.3(PRICKLE1):c.838T>G (p.Ser280Ala)
|
|
|
|
NM_153026.3(PRICKLE1):c.853A>C (p.Lys285Gln)
|
rs1555230175
|
|
|
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.898A>C (p.Ile300Leu)
|
rs1938042825
|
|
|
NM_153026.3(PRICKLE1):c.8del (p.Leu3fs)
|
rs754532709
|
|
|
NM_153026.3(PRICKLE1):c.910A>C (p.Lys304Gln)
|
rs202205425
|
|
|
NM_153026.3(PRICKLE1):c.936C>T (p.Val312=)
|
rs2140102485
|
|
|
NM_153026.3(PRICKLE1):c.949dup (p.Ser317fs)
|
rs1938040051
|
|
|
NM_153026.3(PRICKLE1):c.954C>G (p.Ser318=)
|
rs139421676
|
|
|
NM_153026.3(PRICKLE1):c.954C>T (p.Ser318=)
|
rs139421676
|
|
|
NM_153026.3(PRICKLE1):c.986A>G (p.Asp329Gly)
|
rs1046367995
|
|
|
NM_153026.3(PRICKLE1):c.987C>G (p.Asp329Glu)
|
rs1938037593
|
|
|
NM_153026.3(PRICKLE1):c.991C>A (p.Arg331=)
|
|
|
|
NM_153026.3(PRICKLE1):c.997A>G (p.Ser333Gly)
|
rs1938037090
|
|
|
NM_153033.4(KCTD7):c.*3935_*3937CAA[1]
|
rs35961913
|
|
|
NM_153033.4:c.315-?_*3997+?dup
|
|
|
|
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.*690G>C
|
rs4718382
|
|
|
NM_153033.5(KCTD7):c.*860CCT[1]
|
rs886062416
|
|
|
NM_153033.5(KCTD7):c.-116C>T
|
rs551906037
|
|
|
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.102G>A (p.Thr34=)
|
|
|
|
NM_153033.5(KCTD7):c.104_115del (p.Ala35_Ala38del)
|
rs778647590
|
|
|
NM_153033.5(KCTD7):c.109C>G (p.Gln37Glu)
|
|
|
|
NM_153033.5(KCTD7):c.111G>A (p.Gln37=)
|
rs1786383344
|
|
|
NM_153033.5(KCTD7):c.113C>T (p.Ala38Val)
|
rs373655601
|
|
|
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.128C>T (p.Pro43Leu)
|
|
|
|
NM_153033.5(KCTD7):c.129C>T (p.Pro43=)
|
|
|
|
NM_153033.5(KCTD7):c.12C>G (p.Val4=)
|
|
|
|
NM_153033.5(KCTD7):c.130dup (p.Leu44fs)
|
|
|
|
NM_153033.5(KCTD7):c.139C>T (p.Gln47Ter)
|
rs2116755694
|
|
|
NM_153033.5(KCTD7):c.143A>G (p.Glu48Gly)
|
|
|
|
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+3A>G
|
rs1584392905
|
|
|
NM_153033.5(KCTD7):c.144+4C>A
|
rs757018925
|
|
|
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.144G>A (p.Glu48=)
|
rs2116755708
|
|
|
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.145-2A>G
|
rs1554397774
|
|
|
NM_153033.5(KCTD7):c.145-5del
|
|
|
|
NM_153033.5(KCTD7):c.145-6T>C
|
|
|
|
NM_153033.5(KCTD7):c.147T>G (p.Phe49Leu)
|
rs2116763687
|
|
|
NM_153033.5(KCTD7):c.148C>G (p.Pro50Ala)
|
rs1476493354
|
|
|
NM_153033.5(KCTD7):c.14C>G (p.Thr5Arg)
|
rs1346070646
|
|
|
NM_153033.5(KCTD7):c.152A>T (p.Glu51Val)
|
rs2116763702
|
|
|
NM_153033.5(KCTD7):c.153G>T (p.Glu51Asp)
|
rs2116763706
|
|
|
NM_153033.5(KCTD7):c.154G>T (p.Val52Phe)
|
rs2116763711
|
|
|
NM_153033.5(KCTD7):c.158T>C (p.Val53Ala)
|
rs2116763713
|
|
|
NM_153033.5(KCTD7):c.169A>G (p.Ile57Val)
|
|
|
|
NM_153033.5(KCTD7):c.177G>T (p.Gly59=)
|
|
|
|
NM_153033.5(KCTD7):c.181C>G (p.His61Asp)
|
rs368018261
|
|
|
NM_153033.5(KCTD7):c.188C>T (p.Thr63Ile)
|
rs1258782993
|
|
|
NM_153033.5(KCTD7):c.18G>C (p.Gly6=)
|
rs886062413
|
|
|
NM_153033.5(KCTD7):c.204A>C (p.Thr68=)
|
rs777859099
|
|
|
NM_153033.5(KCTD7):c.205C>G (p.Leu69Val)
|
rs2116763829
|
|
|
NM_153033.5(KCTD7):c.205C>T (p.Leu69=)
|
|
|
|
NM_153033.5(KCTD7):c.207_214del (p.Cys71fs)
|
|
|
|
NM_153033.5(KCTD7):c.208C>T (p.Arg70Trp)
|
rs867319899
|
|
|
NM_153033.5(KCTD7):c.224C>T (p.Thr75Ile)
|
|
|
|
NM_153033.5(KCTD7):c.231G>T (p.Leu77Phe)
|
rs1786499355
|
|
|
NM_153033.5(KCTD7):c.235G>A (p.Ala79Thr)
|
|
|
|
NM_153033.5(KCTD7):c.238A>G (p.Met80Val)
|
rs1554397798
|
|
|
NM_153033.5(KCTD7):c.252G>A (p.Arg84=)
|
|
|
|
NM_153033.5(KCTD7):c.270C>T (p.Asp90=)
|
rs746002015
|
|
|
NM_153033.5(KCTD7):c.278G>A (p.Gly93Asp)
|
rs373509859
|
|
|
NM_153033.5(KCTD7):c.278G>C (p.Gly93Ala)
|
rs373509859
|
|
|
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.294C>T (p.Asp98=)
|
|
|
|
NM_153033.5(KCTD7):c.295C>A (p.Arg99=)
|
|
|
|
NM_153033.5(KCTD7):c.295C>T (p.Arg99Ter)
|
rs267607199
|
|
|
NM_153033.5(KCTD7):c.296G>T (p.Arg99Leu)
|
rs1275877072
|
|
|
NM_153033.5(KCTD7):c.302G>A (p.Gly101Asp)
|
rs1554397831
|
|
|
NM_153033.5(KCTD7):c.308A>G (p.His103Arg)
|
rs2116764091
|
|
|
NM_153033.5(KCTD7):c.314+13C>T
|
rs1786503027
|
|
|
NM_153033.5(KCTD7):c.314+19A>C
|
|
|
|
NM_153033.5(KCTD7):c.314+1G>A
|
rs1554397834
|
|
|
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.322C>A (p.Leu108Met)
|
rs387907263
|
|
|
NM_153033.5(KCTD7):c.330C>T (p.Phe110=)
|
|
|
|
NM_153033.5(KCTD7):c.331del (p.Leu111fs)
|
rs1786631768
|
|
|
NM_153033.5(KCTD7):c.335G>A (p.Arg112His)
|
rs774026720
|
|
|
NM_153033.5(KCTD7):c.339A>G (p.Ser113=)
|
|
|
|
NM_153033.5(KCTD7):c.339_340del (p.Asp115fs)
|
rs2116773782
|
|
|
NM_153033.5(KCTD7):c.343G>T (p.Asp115Tyr)
|
rs387907262
|
|
|
NM_153033.5(KCTD7):c.345C>T (p.Asp115=)
|
|
|
|
NM_153033.5(KCTD7):c.346C>T (p.Leu116Phe)
|
rs2116773826
|
|
|
NM_153033.5(KCTD7):c.351A>G (p.Pro117=)
|
|
|
|
NM_153033.5(KCTD7):c.35G>T (p.Arg12Leu)
|
rs763423181
|
|
|
NM_153033.5(KCTD7):c.362G>A (p.Arg121His)
|
rs199624315
|
|
|
NM_153033.5(KCTD7):c.363T>C (p.Arg121=)
|
|
|
|
NM_153033.5(KCTD7):c.367C>T (p.Arg123Ter)
|
|
|
|
NM_153033.5(KCTD7):c.371C>G (p.Ala124Gly)
|
rs1786632902
|
|
|
NM_153033.5(KCTD7):c.385G>A (p.Ala129Thr)
|
|
|
|
NM_153033.5(KCTD7):c.388C>T (p.Gln130Ter)
|
rs1207922864
|
|
|
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.419A>G (p.Gln140Arg)
|
|
|
|
NM_153033.5(KCTD7):c.428A>G (p.Asn143Ser)
|
rs1786634540
|
|
|
NM_153033.5(KCTD7):c.431T>A (p.Met144Lys)
|
|
|
|
NM_153033.5(KCTD7):c.440T>C (p.Leu147Pro)
|
rs775109352
|
|
|
NM_153033.5(KCTD7):c.448G>A (p.Glu150Lys)
|
|
|
|
NM_153033.5(KCTD7):c.457C>T (p.Arg153Cys)
|
rs761707159
|
|
|
NM_153033.5(KCTD7):c.458G>C (p.Arg153Pro)
|
rs765235486
|
|
|
NM_153033.5(KCTD7):c.45C>A (p.Asp15Glu)
|
rs751937729
|
|
|
NM_153033.5(KCTD7):c.463G>A (p.Ala155Thr)
|
rs2116774076
|
|
|
NM_153033.5(KCTD7):c.465G>A (p.Ala155=)
|
rs773209661
|
|
|
NM_153033.5(KCTD7):c.46G>A (p.Gly16Ser)
|
rs1450028260
|
|
|
NM_153033.5(KCTD7):c.46G>T (p.Gly16Cys)
|
rs1450028260
|
|
|
NM_153033.5(KCTD7):c.472G>A (p.Gly158Arg)
|
|
|
|
NM_153033.5(KCTD7):c.481C>T (p.Pro161Ser)
|
|
|
|
NM_153033.5(KCTD7):c.485A>T (p.Tyr162Phe)
|
rs2116774109
|
|
|
NM_153033.5(KCTD7):c.489C>T (p.Tyr163=)
|
rs1057521582
|
|
|
NM_153033.5(KCTD7):c.493+16C>T
|
|
|
|
NM_153033.5(KCTD7):c.493+2_493+6del
|
rs2116774137
|
|
|
NM_153033.5(KCTD7):c.493+3G>C
|
|
|
|
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.494A>G (p.Asp165Gly)
|
|
|
|
NM_153033.5(KCTD7):c.501G>C (p.Leu167Phe)
|
|
|
|
NM_153033.5(KCTD7):c.505C>T (p.Arg169Trp)
|
|
|
|
NM_153033.5(KCTD7):c.517A>C (p.Ile173Leu)
|
|
|
|
NM_153033.5(KCTD7):c.518T>A (p.Ile173Asn)
|
|
|
|
NM_153033.5(KCTD7):c.51C>T (p.Ala17=)
|
rs1584392789
|
|
|
NM_153033.5(KCTD7):c.520G>A (p.Ala174Thr)
|
|
|
|
NM_153033.5(KCTD7):c.523C>G (p.Arg175Gly)
|
rs568539835
|
|
|
NM_153033.5(KCTD7):c.528G>C (p.Leu176=)
|
|
|
|
NM_153033.5(KCTD7):c.529C>T (p.Arg177Cys)
|
rs1273966098
|
|
|
NM_153033.5(KCTD7):c.536T>C (p.Val179Ala)
|
rs1362176294
|
|
|
NM_153033.5(KCTD7):c.53T>A (p.Met18Lys)
|
rs777578179
|
|
|
NM_153033.5(KCTD7):c.549C>G (p.Ala183=)
|
rs1786648622
|
|
|
NM_153033.5(KCTD7):c.564C>G (p.Leu188=)
|
|
|
|
NM_153033.5(KCTD7):c.569T>C (p.Val190Ala)
|
|
|
|
NM_153033.5(KCTD7):c.594C>G (p.Pro198=)
|
rs749192199
|
|
|
NM_153033.5(KCTD7):c.594del (p.Ile199fs)
|
rs727502785
|
|
|
NM_153033.5(KCTD7):c.601C>A (p.Pro201Thr)
|
rs2116775195
|
|
|
NM_153033.5(KCTD7):c.605A>G (p.Tyr202Cys)
|
rs1786649598
|
|
|
NM_153033.5(KCTD7):c.611G>A (p.Cys204Tyr)
|
rs1786649821
|
|
|
NM_153033.5(KCTD7):c.612T>C (p.Cys204=)
|
|
|
|
NM_153033.5(KCTD7):c.616C>A (p.Leu206Ile)
|
|
|
|
NM_153033.5(KCTD7):c.618C>G (p.Leu206=)
|
|
|
|
NM_153033.5(KCTD7):c.628C>G (p.Leu210Val)
|
|
|
|
NM_153033.5(KCTD7):c.631C>T (p.Arg211Ter)
|
rs750811871
|
|
|
NM_153033.5(KCTD7):c.636T>A (p.Phe212Leu)
|
rs752360120
|
|
|
NM_153033.5(KCTD7):c.636T>G (p.Phe212Leu)
|
rs752360120
|
|
|
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.64G>A (p.Asp22Asn)
|
rs1390049689
|
|
|
NM_153033.5(KCTD7):c.650G>A (p.Ser217Asn)
|
rs1786651523
|
|
|
NM_153033.5(KCTD7):c.677G>C (p.Cys226Ser)
|
rs1554300943
|
|
|
NM_153033.5(KCTD7):c.681A>T (p.Glu227Asp)
|
|
|
|
NM_153033.5(KCTD7):c.685G>T (p.Asp229Tyr)
|
rs2116775490
|
|
|
NM_153033.5(KCTD7):c.696del (p.Phe232fs)
|
rs2116775509
|
|
|
NM_153033.5(KCTD7):c.698G>A (p.Gly233Glu)
|
rs2116775521
|
|
|
NM_153033.5(KCTD7):c.699G>A (p.Gly233=)
|
|
|
|
NM_153033.5(KCTD7):c.69C>G (p.Ala23=)
|
rs1584392832
|
|
|
NM_153033.5(KCTD7):c.704G>C (p.Trp235Ser)
|
rs796052689
|
|
|
NM_153033.5(KCTD7):c.710C>G (p.Ala237Gly)
|
rs1584399776
|
|
|
NM_153033.5(KCTD7):c.714G>A (p.Val238=)
|
|
|
|
NM_153033.5(KCTD7):c.71A>G (p.Glu24Gly)
|
rs2116755505
|
|
|
NM_153033.5(KCTD7):c.727G>A (p.Asp243Asn)
|
rs2116775565
|
|
|
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.758C>T (p.Ser253Leu)
|
rs761940050
|
|
|
NM_153033.5(KCTD7):c.759G>A (p.Ser253=)
|
rs146540578
|
|
|
NM_153033.5(KCTD7):c.759G>T (p.Ser253=)
|
|
|
|
NM_153033.5(KCTD7):c.769C>G (p.Leu257Val)
|
rs1554300955
|
|
|
NM_153033.5(KCTD7):c.773C>A (p.Thr258Asn)
|
rs1786653994
|
|
|
NM_153033.5(KCTD7):c.77A>G (p.Asp26Gly)
|
|
|
|
NM_153033.5(KCTD7):c.784C>G (p.Gln262Glu)
|
rs886043127
|
|
|
NM_153033.5(KCTD7):c.786G>A (p.Gln262=)
|
rs1584399843
|
|
|
NM_153033.5(KCTD7):c.790A>C (p.Ile264Leu)
|
rs763830869
|
|
|
NM_153033.5(KCTD7):c.793G>A (p.Gly265Arg)
|
rs200415747
|
|
|
NM_153033.5(KCTD7):c.796G>T (p.Val266Leu)
|
rs1297799073
|
|
|
NM_153033.5(KCTD7):c.807G>T (p.Lys269Asn)
|
|
|
|
NM_153033.5(KCTD7):c.810C>T (p.His270=)
|
rs2116775769
|
|
|
NM_153033.5(KCTD7):c.811C>G (p.Leu271Val)
|
rs2116775776
|
|
|
NM_153033.5(KCTD7):c.818A>T (p.Asn273Ile)
|
rs387907261
|
|
|
NM_153033.5(KCTD7):c.821A>G (p.His274Arg)
|
rs2116775801
|
|
|
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.845A>G (p.Tyr282Cys)
|
rs1264632322
|
|
|
NM_153033.5(KCTD7):c.857T>A (p.Ile286Asn)
|
rs2116775902
|
|
|
NM_153033.5(KCTD7):c.861_863del (p.Trp289del)
|
rs2116775918
|
|
|
NM_153033.5(KCTD7):c.98_109del (p.Pro33_Thr36del)
|
rs753399965
|
|
|
NM_153033.5(KCTD7):c.9A>G (p.Val3=)
|
|
|
|
NM_172107.4(KCNQ2):c.1776C>G (p.Ile592Met)
|
rs201868078
|
|
|
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del)
|
rs118192212
|
|
|
NM_178013.4(PRIMA1):c.102_103inv (p.Gly35Ser)
|
|
|
|
NM_178013.4(PRIMA1):c.116A>C (p.Lys39Thr)
|
rs1595225943
|
|
|
NM_178013.4(PRIMA1):c.120C>T (p.Ser40=)
|
rs1331581624
|
|
|
NM_178013.4(PRIMA1):c.149A>T (p.His50Leu)
|
rs1885313756
|
|
|
NM_178013.4(PRIMA1):c.151G>A (p.Val51Ile)
|
rs757100676
|
|
|
NM_178013.4(PRIMA1):c.164G>A (p.Arg55Gln)
|
rs1221627092
|
|
|
NM_178013.4(PRIMA1):c.16T>C (p.Leu6=)
|
|
|
|
NM_178013.4(PRIMA1):c.170C>A (p.Pro57His)
|
|
|
|
NM_178013.4(PRIMA1):c.171T>A (p.Pro57=)
|
rs766425104
|
|
|
NM_178013.4(PRIMA1):c.177G>A (p.Pro59=)
|
|
|
|
NM_178013.4(PRIMA1):c.186_194dup (p.Pro68_Pro70dup)
|
rs1885310371
|
|
|
NM_178013.4(PRIMA1):c.188C>T (p.Pro63Leu)
|
|
|
|
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.223G>A (p.Ala75Thr)
|
rs777420844
|
|
|
NM_178013.4(PRIMA1):c.226C>T (p.Pro76Ser)
|
|
|
|
NM_178013.4(PRIMA1):c.229+11G>A
|
|
|
|
NM_178013.4(PRIMA1):c.22C>G (p.Leu8Val)
|
rs2141200976
|
|
|
NM_178013.4(PRIMA1):c.230-14_230-12del
|
|
|
|
NM_178013.4(PRIMA1):c.239C>G (p.Ser80Cys)
|
|
|
|
NM_178013.4(PRIMA1):c.24G>A (p.Leu8=)
|
|
|
|
NM_178013.4(PRIMA1):c.250C>G (p.Pro84Ala)
|
rs376511394
|
|
|
NM_178013.4(PRIMA1):c.26G>T (p.Arg9Leu)
|
rs1356463267
|
|
|
NM_178013.4(PRIMA1):c.270G>A (p.Trp90Ter)
|
rs2141161066
|
|
|
NM_178013.4(PRIMA1):c.272C>T (p.Ser91Leu)
|
rs1461678706
|
|
|
NM_178013.4(PRIMA1):c.279G>A (p.Leu93=)
|
|
|
|
NM_178013.4(PRIMA1):c.285C>T (p.Ile95=)
|
|
|
|
NM_178013.4(PRIMA1):c.28C>T (p.Arg10Cys)
|
rs1236227808
|
|
|
NM_178013.4(PRIMA1):c.29G>T (p.Arg10Leu)
|
rs971650267
|
|
|
NM_178013.4(PRIMA1):c.300C>T (p.Cys100=)
|
rs776257256
|
|
|
NM_178013.4(PRIMA1):c.308C>T (p.Ser103Phe)
|
|
|
|
NM_178013.4(PRIMA1):c.313G>A (p.Val105Met)
|
rs933720150
|
|
|
NM_178013.4(PRIMA1):c.315G>A (p.Val105=)
|
rs369364290
|
|
|
NM_178013.4(PRIMA1):c.316T>A (p.Phe106Ile)
|
|
|
|
NM_178013.4(PRIMA1):c.33_34inv (p.Cys12Gly)
|
|
|
|
NM_178013.4(PRIMA1):c.351C>T (p.Ala117=)
|
|
|
|
NM_178013.4(PRIMA1):c.352A>G (p.Ile118Val)
|
rs2076155343
|
|
|
NM_178013.4(PRIMA1):c.353T>C (p.Ile118Thr)
|
rs2076155309
|
|
|
NM_178013.4(PRIMA1):c.359+12C>G
|
|
|
|
NM_178013.4(PRIMA1):c.359+6T>A
|
rs371216163
|
|
|
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.365C>T (p.Pro122Leu)
|
rs748353542
|
|
|
NM_178013.4(PRIMA1):c.366A>G (p.Pro122=)
|
rs566982848
|
|
|
NM_178013.4(PRIMA1):c.383A>G (p.Asn128Ser)
|
|
|
|
NM_178013.4(PRIMA1):c.387C>T (p.Gly129=)
|
|
|
|
NM_178013.4(PRIMA1):c.398C>T (p.Ala133Val)
|
rs548656636
|
|
|
NM_178013.4(PRIMA1):c.408C>G (p.Pro136=)
|
|
|
|
NM_178013.4(PRIMA1):c.441C>A (p.Asp147Glu)
|
rs966498472
|
|
|
NM_178013.4(PRIMA1):c.441C>T (p.Asp147=)
|
|
|
|
NM_178013.4(PRIMA1):c.444G>A (p.Val148=)
|
rs2141146936
|
|
|
NM_178013.4(PRIMA1):c.44C>A (p.Ser15Tyr)
|
rs1472639661
|
|
|
NM_178013.4(PRIMA1):c.451G>C (p.Ala151Pro)
|
rs200782279
|
|
|
NM_178013.4(PRIMA1):c.47C>T (p.Ser16Leu)
|
rs1366936289
|
|
|
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.80G>A (p.Trp27Ter)
|
|
|
|
NM_178013.4(PRIMA1):c.82G>C (p.Gly28Arg)
|
rs750307297
|
|
|
NM_178013.4(PRIMA1):c.87C>A (p.Phe29Leu)
|
rs1474313538
|
|
|
NM_178013.4(PRIMA1):c.88G>A (p.Val30Met)
|
rs1885561822
|
|
|
NM_178013.4(PRIMA1):c.90G>T (p.Val30=)
|
|
|
|
NM_178013.4(PRIMA1):c.91C>G (p.Gln31Glu)
|
rs1449284468
|
|
|
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.98_99delinsTA (p.Thr33Ile)
|
rs2141193915
|
|
|
NM_178013.4(PRIMA1):c.99G>A (p.Thr33=)
|
rs4900195
|
|
|
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.*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.*482C>G
|
rs114713758
|
|
|
NM_198586.3(NHLRC1):c.*55G>C
|
rs11966789
|
|
|
NM_198586.3(NHLRC1):c.*662C>G
|
rs150615281
|
|
|
NM_198586.3(NHLRC1):c.*875T>A
|
rs72839174
|
|
|
NM_198586.3(NHLRC1):c.1008A>G (p.Ala336=)
|
|
|
|
NM_198586.3(NHLRC1):c.1034G>A (p.Cys345Tyr)
|
rs781739043
|
|
|
NM_198586.3(NHLRC1):c.1036T>C (p.Leu346=)
|
rs2150702721
|
|
|
NM_198586.3(NHLRC1):c.1039G>A (p.Gly347Arg)
|
rs1783733675
|
|
|
NM_198586.3(NHLRC1):c.1063C>T (p.Pro355Ser)
|
rs1783733228
|
|
|
NM_198586.3(NHLRC1):c.1065G>C (p.Pro355=)
|
rs752799460
|
|
|
NM_198586.3(NHLRC1):c.1076T>G (p.Val359Gly)
|
|
|
|
NM_198586.3(NHLRC1):c.107G>A (p.Arg36Gln)
|
rs764691077
|
|
|
NM_198586.3(NHLRC1):c.107G>C (p.Arg36Pro)
|
rs764691077
|
|
|
NM_198586.3(NHLRC1):c.108G>A (p.Arg36=)
|
rs903344687
|
|
|
NM_198586.3(NHLRC1):c.1091C>A (p.Ser364Ter)
|
rs78324544
|
|
|
NM_198586.3(NHLRC1):c.10G>A (p.Glu4Lys)
|
|
|
|
NM_198586.3(NHLRC1):c.1109C>A (p.Thr370Asn)
|
rs1422730903
|
|
|
NM_198586.3(NHLRC1):c.1120G>A (p.Glu374Lys)
|
rs771702699
|
|
|
NM_198586.3(NHLRC1):c.1120G>T (p.Glu374Ter)
|
|
|
|
NM_198586.3(NHLRC1):c.1163_1164del (p.Lys388fs)
|
rs1783731105
|
|
|
NM_198586.3(NHLRC1):c.1183G>A (p.Gly395Arg)
|
rs753959228
|
|
|
NM_198586.3(NHLRC1):c.1185G>A (p.Gly395=)
|
rs760726977
|
|
|
NM_198586.3(NHLRC1):c.1185del (p.Ter396AspextTer?)
|
|
|
|
NM_198586.3(NHLRC1):c.121C>T (p.Pro41Ser)
|
|
|
|
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.137G>A (p.Cys46Tyr)
|
|
|
|
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.154C>G (p.Leu52Val)
|
|
|
|
NM_198586.3(NHLRC1):c.171C>T (p.Ala57=)
|
rs2150703320
|
|
|
NM_198586.3(NHLRC1):c.180C>A (p.His60Gln)
|
|
|
|
NM_198586.3(NHLRC1):c.182C>A (p.Pro61Gln)
|
rs1783757283
|
|
|
NM_198586.3(NHLRC1):c.182C>T (p.Pro61Leu)
|
rs1783757283
|
|
|
NM_198586.3(NHLRC1):c.184C>T (p.Arg62Cys)
|
rs761458140
|
|
|
NM_198586.3(NHLRC1):c.185G>A (p.Arg62His)
|
rs796052754
|
|
|
NM_198586.3(NHLRC1):c.185G>C (p.Arg62Pro)
|
|
|
|
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.199G>A (p.Glu67Lys)
|
rs779507031
|
|
|
NM_198586.3(NHLRC1):c.203G>C (p.Cys68Ser)
|
rs1783756475
|
|
|
NM_198586.3(NHLRC1):c.215G>A (p.Arg72Lys)
|
rs1582030466
|
|
|
NM_198586.3(NHLRC1):c.218G>T (p.Arg73Leu)
|
rs1280991443
|
|
|
NM_198586.3(NHLRC1):c.226C>T (p.Arg76Trp)
|
|
|
|
NM_198586.3(NHLRC1):c.227G>A (p.Arg76Gln)
|
|
|
|
NM_198586.3(NHLRC1):c.228G>T (p.Arg76=)
|
rs1409114977
|
|
|
NM_198586.3(NHLRC1):c.230del (p.Gly77fs)
|
|
|
|
NM_198586.3(NHLRC1):c.234C>T (p.Cys78=)
|
rs755232826
|
|
|
NM_198586.3(NHLRC1):c.23G>A (p.Ser8Asn)
|
rs2150703425
|
|
|
NM_198586.3(NHLRC1):c.243C>T (p.Ser81=)
|
rs1174745955
|
|
|
NM_198586.3(NHLRC1):c.269T>C (p.Ile90Thr)
|
rs1582030401
|
|
|
NM_198586.3(NHLRC1):c.26G>A (p.Gly9Glu)
|
|
|
|
NM_198586.3(NHLRC1):c.26G>T (p.Gly9Val)
|
|
|
|
NM_198586.3(NHLRC1):c.272A>G (p.Glu91Gly)
|
|
|
|
NM_198586.3(NHLRC1):c.276C>G (p.Leu92=)
|
rs1203128687
|
|
|
NM_198586.3(NHLRC1):c.293G>T (p.Arg98Leu)
|
rs1340355518
|
|
|
NM_198586.3(NHLRC1):c.301C>T (p.Pro101Ser)
|
rs1484414595
|
|
|
NM_198586.3(NHLRC1):c.303G>A (p.Pro101=)
|
rs187783545
|
|
|
NM_198586.3(NHLRC1):c.307G>A (p.Ala103Thr)
|
rs568131096
|
|
|
NM_198586.3(NHLRC1):c.314G>T (p.Arg105Leu)
|
rs1166657109
|
|
|
NM_198586.3(NHLRC1):c.317C>G (p.Ala106Gly)
|
rs1255416149
|
|
|
NM_198586.3(NHLRC1):c.318C>T (p.Ala106=)
|
rs2150703205
|
|
|
NM_198586.3(NHLRC1):c.319G>C (p.Ala107Pro)
|
rs796052755
|
|
|
NM_198586.3(NHLRC1):c.321C>T (p.Ala107=)
|
rs772440533
|
|
|
NM_198586.3(NHLRC1):c.323C>G (p.Pro108Arg)
|
rs1783752059
|
|
|
NM_198586.3(NHLRC1):c.336A>G (p.Gly112=)
|
|
|
|
NM_198586.3(NHLRC1):c.34_35delinsGG (p.Leu12Gly)
|
rs2150703412
|
|
|
NM_198586.3(NHLRC1):c.354C>T (p.His118=)
|
rs2150703182
|
|
|
NM_198586.3(NHLRC1):c.356C>T (p.Thr119Ile)
|
rs1783751214
|
|
|
NM_198586.3(NHLRC1):c.360C>T (p.Phe120=)
|
rs754279385
|
|
|
NM_198586.3(NHLRC1):c.368G>A (p.Trp123Ter)
|
rs1783750860
|
|
|
NM_198586.3(NHLRC1):c.372G>A (p.Gly124=)
|
|
|
|
NM_198586.3(NHLRC1):c.372G>C (p.Gly124=)
|
|
|
|
NM_198586.3(NHLRC1):c.377T>C (p.Leu126Pro)
|
|
|
|
NM_198586.3(NHLRC1):c.378G>C (p.Leu126=)
|
|
|
|
NM_198586.3(NHLRC1):c.37_38insTC (p.His13fs)
|
rs1217276014
|
|
|
NM_198586.3(NHLRC1):c.391G>A (p.Gly131Arg)
|
rs967125703
|
|
|
NM_198586.3(NHLRC1):c.392G>T (p.Gly131Val)
|
rs1783749949
|
|
|
NM_198586.3(NHLRC1):c.394C>A (p.Leu132Met)
|
rs1367848969
|
|
|
NM_198586.3(NHLRC1):c.397G>A (p.Ala133Thr)
|
rs886061254
|
|
|
NM_198586.3(NHLRC1):c.399G>T (p.Ala133=)
|
rs1382326927
|
|
|
NM_198586.3(NHLRC1):c.39T>G (p.His13Gln)
|
rs2150703410
|
|
|
NM_198586.3(NHLRC1):c.406C>T (p.Pro136Ser)
|
rs1561882043
|
|
|
NM_198586.3(NHLRC1):c.407C>T (p.Pro136Leu)
|
rs1783749565
|
|
|
NM_198586.3(NHLRC1):c.414G>C (p.Thr138=)
|
|
|
|
NM_198586.3(NHLRC1):c.423C>G (p.Val141=)
|
|
|
|
NM_198586.3(NHLRC1):c.423_425del (p.Val144del)
|
rs1783748374
|
|
|
NM_198586.3(NHLRC1):c.434A>C (p.His145Pro)
|
rs1783748075
|
|
|
NM_198586.3(NHLRC1):c.438C>A (p.Asp146Glu)
|
rs200559475
|
|
|
NM_198586.3(NHLRC1):c.449G>A (p.Arg150His)
|
rs749599233
|
|
|
NM_198586.3(NHLRC1):c.452T>A (p.Val151Asp)
|
|
|
|
NM_198586.3(NHLRC1):c.454A>G (p.Lys152Glu)
|
|
|
|
NM_198586.3(NHLRC1):c.456G>C (p.Lys152Asn)
|
rs2150703098
|
|
|
NM_198586.3(NHLRC1):c.45C>A (p.Leu15=)
|
rs770992577
|
|
|
NM_198586.3(NHLRC1):c.462dup (p.Asp155Ter)
|
rs1157872508
|
|
|
NM_198586.3(NHLRC1):c.469G>A (p.Gly157Arg)
|
|
|
|
NM_198586.3(NHLRC1):c.470G>A (p.Gly157Glu)
|
rs781300542
|
|
|
NM_198586.3(NHLRC1):c.483G>A (p.Ala161=)
|
rs1783746446
|
|
|
NM_198586.3(NHLRC1):c.485A>C (p.His162Pro)
|
rs1217974765
|
|
|
NM_198586.3(NHLRC1):c.494G>A (p.Gly165Glu)
|
rs1554136449
|
|
|
NM_198586.3(NHLRC1):c.4_5delinsAA (p.Ala2Lys)
|
rs796052757
|
|
|
NM_198586.3(NHLRC1):c.507C>T (p.Asp169=)
|
|
|
|
NM_198586.3(NHLRC1):c.515A>G (p.Gln172Arg)
|
rs1783745635
|
|
|
NM_198586.3(NHLRC1):c.519C>T (p.Asp173=)
|
|
|
|
NM_198586.3(NHLRC1):c.519del (p.Asp173fs)
|
|
|
|
NM_198586.3(NHLRC1):c.525G>A (p.Arg175=)
|
rs1414840416
|
|
|
NM_198586.3(NHLRC1):c.528C>G (p.Tyr176Ter)
|
rs1403101337
|
|
|
NM_198586.3(NHLRC1):c.52G>A (p.Glu18Lys)
|
rs771805307
|
|
|
NM_198586.3(NHLRC1):c.541A>G (p.Thr181Ala)
|
rs886061253
|
|
|
NM_198586.3(NHLRC1):c.551A>C (p.Asn184Thr)
|
|
|
|
NM_198586.3(NHLRC1):c.553G>C (p.Asp185His)
|
|
|
|
NM_198586.3(NHLRC1):c.558_562del (p.His187fs)
|
|
|
|
NM_198586.3(NHLRC1):c.560A>C (p.His187Pro)
|
|
|
|
NM_198586.3(NHLRC1):c.565G>T (p.Val189Phe)
|
|
|
|
NM_198586.3(NHLRC1):c.575A>T (p.Asp192Val)
|
rs1194084403
|
|
|
NM_198586.3(NHLRC1):c.583del (p.Asp195fs)
|
rs2150703022
|
|
|
NM_198586.3(NHLRC1):c.593T>A (p.Ile198Asn)
|
rs121917876
|
|
|
NM_198586.3(NHLRC1):c.612del (p.Phe204fs)
|
rs1171412241
|
|
|
NM_198586.3(NHLRC1):c.618G>A (p.Gln206=)
|
rs747084695
|
|
|
NM_198586.3(NHLRC1):c.621C>T (p.Ile207=)
|
|
|
|
NM_198586.3(NHLRC1):c.630C>A (p.Val210=)
|
rs2150702986
|
|
|
NM_198586.3(NHLRC1):c.637G>A (p.Gly213Ser)
|
rs1783743169
|
|
|
NM_198586.3(NHLRC1):c.642A>T (p.Gln214His)
|
rs754756237
|
|
|
NM_198586.3(NHLRC1):c.646T>G (p.Ser216Ala)
|
|
|
|
NM_198586.3(NHLRC1):c.647_649del (p.Ser216del)
|
|
|
|
NM_198586.3(NHLRC1):c.659G>T (p.Gly220Val)
|
rs1449381352
|
|
|
NM_198586.3(NHLRC1):c.670_673del (p.Thr224fs)
|
rs2150702964
|
|
|
NM_198586.3(NHLRC1):c.677A>T (p.Gln226Leu)
|
rs1783742476
|
|
|
NM_198586.3(NHLRC1):c.691G>A (p.Val231Ile)
|
rs1060503098
|
|
|
NM_198586.3(NHLRC1):c.695C>A (p.Thr232Asn)
|
rs371640803
|
|
|
NM_198586.3(NHLRC1):c.695C>T (p.Thr232Ile)
|
|
|
|
NM_198586.3(NHLRC1):c.69G>A (p.Leu23=)
|
rs1170288661
|
|
|
NM_198586.3(NHLRC1):c.702G>A (p.Ala234=)
|
|
|
|
NM_198586.3(NHLRC1):c.704A>G (p.Glu235Gly)
|
rs1173727000
|
|
|
NM_198586.3(NHLRC1):c.705G>A (p.Glu235=)
|
rs1783741826
|
|
|
NM_198586.3(NHLRC1):c.711G>T (p.Gly237=)
|
|
|
|
NM_198586.3(NHLRC1):c.713C>A (p.Ser238Tyr)
|
rs747276703
|
|
|
NM_198586.3(NHLRC1):c.716T>C (p.Leu239Pro)
|
|
|
|
NM_198586.3(NHLRC1):c.729C>G (p.Asp243Glu)
|
rs146420615
|
|
|
NM_198586.3(NHLRC1):c.733G>A (p.Asp245Asn)
|
rs2150702925
|
|
|
NM_198586.3(NHLRC1):c.738C>T (p.Phe246=)
|
rs1561881781
|
|
|
NM_198586.3(NHLRC1):c.742G>T (p.Glu248Ter)
|
rs750055958
|
|
|
NM_198586.3(NHLRC1):c.742del (p.Glu248fs)
|
|
|
|
NM_198586.3(NHLRC1):c.746G>C (p.Gly249Ala)
|
|
|
|
NM_198586.3(NHLRC1):c.747G>A (p.Gly249=)
|
rs1582029822
|
|
|
NM_198586.3(NHLRC1):c.754C>T (p.Arg252Trp)
|
rs1244886517
|
|
|
NM_198586.3(NHLRC1):c.755G>C (p.Arg252Pro)
|
|
|
|
NM_198586.3(NHLRC1):c.756G>A (p.Arg252=)
|
rs2150702898
|
|
|
NM_198586.3(NHLRC1):c.757A>C (p.Arg253=)
|
|
|
|
NM_198586.3(NHLRC1):c.759A>G (p.Arg253=)
|
|
|
|
NM_198586.3(NHLRC1):c.76T>G (p.Cys26Gly)
|
|
|
|
NM_198586.3(NHLRC1):c.775G>T (p.Ala259Ser)
|
rs1783740022
|
|
|
NM_198586.3(NHLRC1):c.793C>T (p.Arg265Ter)
|
rs121917875
|
|
|
NM_198586.3(NHLRC1):c.797G>A (p.Gly266Glu)
|
|
|
|
NM_198586.3(NHLRC1):c.799del (p.Val267fs)
|
rs1362520746
|
|
|
NM_198586.3(NHLRC1):c.799dup (p.Val267fs)
|
rs1362520746
|
|
|
NM_198586.3(NHLRC1):c.807G>A (p.Val269=)
|
|
|
|
NM_198586.3(NHLRC1):c.809C>A (p.Ser270Tyr)
|
rs2150702863
|
|
|
NM_198586.3(NHLRC1):c.820G>A (p.Gly274Arg)
|
rs568213488
|
|
|
NM_198586.3(NHLRC1):c.820G>C (p.Gly274Arg)
|
rs568213488
|
|
|
NM_198586.3(NHLRC1):c.827T>C (p.Ile276Thr)
|
|
|
|
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.845C>G (p.Pro282Arg)
|
rs2150702844
|
|
|
NM_198586.3(NHLRC1):c.845C>T (p.Pro282Leu)
|
rs2150702844
|
|
|
NM_198586.3(NHLRC1):c.865_880del (p.Gly288_Val289insTer)
|
rs1193841505
|
|
|
NM_198586.3(NHLRC1):c.880G>A (p.Val294Met)
|
|
|
|
NM_198586.3(NHLRC1):c.893G>T (p.Ser298Ile)
|
rs1783736655
|
|
|
NM_198586.3(NHLRC1):c.896C>T (p.Ser299Leu)
|
|
|
|
NM_198586.3(NHLRC1):c.923A>C (p.Asp308Ala)
|
rs137852859
|
|
|
NM_198586.3(NHLRC1):c.930T>C (p.Phe310=)
|
|
|
|
NM_198586.3(NHLRC1):c.935T>C (p.Leu312Pro)
|
rs2150702790
|
|
|
NM_198586.3(NHLRC1):c.943T>A (p.Tyr315Asn)
|
|
|
|
NM_198586.3(NHLRC1):c.969C>A (p.Ser323=)
|
|
|
|
NM_198586.3(NHLRC1):c.970G>T (p.Ala324Ser)
|
|
|
|
NM_198586.3(NHLRC1):c.98T>G (p.Phe33Cys)
|
rs757759398
|
|
|
NM_198586.3(NHLRC1):c.992del (p.Gly331fs)
|
rs587776543
|
|
|
NM_198586.3(NHLRC1):c.9C>G (p.Ala3=)
|
|
|
|
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.*4238C>T
|
rs14056
|
|
|
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.*579del
|
rs35195442
|
|
|
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.269C>T (p.Thr90Met)
|
rs1057520498
|
|
|
NM_198904.4(GABRG2):c.769G>A (p.Gly257Arg)
|
rs1554098235
|
|
|
NM_198904.4(GABRG2):c.950C>A (p.Thr317Asn)
|
rs1765173859
|
|
|
NM_198904.4(GABRG2):c.968G>A (p.Arg323Gln)
|
rs397514737
|
|
|
NM_207506.3(SAMD12):c.13+16544C>A
|
rs1827958407
|
|
|
SAMD12, 5-BP INS, TTTCA(n) REPEAT EXPANSION, IVS4
|
|
|
|
Single allele
|
|
|