NM_018100.4(EFHC1):c.*881A>T
|
rs6926242
|
0.90714
|
NM_018100.4(EFHC1):c.*3144T>A
|
rs3789772
|
0.70161
|
NM_020361.4(CPA6):c.-269G>A
|
rs2553663
|
0.65179
|
NM_018100.4(EFHC1):c.*3406T>C
|
rs6919266
|
0.36710
|
NM_018100.4(EFHC1):c.*2972C>G
|
rs9367485
|
0.18894
|
NM_018100.4(EFHC1):c.573+10A>G
|
rs9349626
|
0.18650
|
NM_018100.4(EFHC1):c.*1490C>A
|
rs2397092
|
0.18321
|
NM_018100.4(EFHC1):c.*2419A>G
|
rs9474228
|
0.17191
|
NM_004287.5(GOSR2):c.*2292C>T
|
rs79673308
|
0.10999
|
NM_018100.4(EFHC1):c.*871C>G
|
rs78956562
|
0.09084
|
NM_004287.5(GOSR2):c.*1067G>A
|
rs11874
|
0.08663
|
NM_018100.4(EFHC1):c.*3192G>A
|
rs3789771
|
0.08613
|
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr)
|
rs1266787
|
0.07947
|
NM_018100.4(EFHC1):c.1855A>C (p.Ile619Leu)
|
rs17851770
|
0.06310
|
NM_018100.3(EFHC1):c.-195A>G
|
rs2296196
|
0.04417
|
NM_000726.5(CACNB4):c.*4771G>A
|
rs80248494
|
0.03690
|
NM_004287.5(GOSR2):c.*1062A>T
|
rs16941324
|
0.03601
|
NM_004287.5(GOSR2):c.*1655A>G
|
rs116123534
|
0.03006
|
NM_020361.5(CPA6):c.*328A>G
|
rs3395
|
0.02890
|
NM_018100.4(EFHC1):c.*2164G>A
|
rs59722297
|
0.02831
|
NM_000726.5(CACNB4):c.*1656T>C
|
rs62174451
|
0.02784
|
NM_004287.5(GOSR2):c.*2342A>G
|
rs61745471
|
0.01873
|
NM_000726.5(CACNB4):c.*2885T>C
|
rs116457978
|
0.01717
|
NM_198904.4(GABRG2):c.354G>A (p.Ala118=)
|
rs61735412
|
0.01699
|
NM_000726.5(CACNB4):c.*2163G>A
|
rs80306085
|
0.01698
|
NM_001134407.3(GRIN2A):c.*8536_*8537insC
|
rs59371229
|
0.01284
|
NM_001161352.2(KCNMA1):c.*321C>T
|
rs7078702
|
0.01265
|
NM_000100.4(CSTB):c.*93A>G
|
rs9446
|
0.01254
|
NM_198859.4(PRICKLE2):c.-252G>C
|
rs142388795
|
0.01230
|
NM_004287.5(GOSR2):c.*2293G>A
|
rs77706742
|
0.01200
|
NM_000726.5(CACNB4):c.*2778A>C
|
rs114659375
|
0.01105
|
NM_000726.5(CACNB4):c.*1459T>C
|
rs114958916
|
0.01102
|
NM_000726.5(CACNB4):c.*865G>A
|
rs75365487
|
0.00988
|
NM_001161352.2(KCNMA1):c.2526C>T (p.Val842=)
|
rs41274568
|
0.00917
|
NM_000726.5(CACNB4):c.*2837A>G
|
rs138327808
|
0.00888
|
NM_001161352.2(KCNMA1):c.*932G>T
|
rs76644618
|
0.00873
|
NM_198904.4(GABRG2):c.*794A>G
|
rs73316347
|
0.00873
|
NM_000726.5(CACNB4):c.*528A>T
|
rs111999910
|
0.00814
|
NM_198859.4(PRICKLE2):c.*3489G>A
|
rs143062140
|
0.00811
|
NM_000100.4(CSTB):c.*69A>G
|
rs142767585
|
0.00798
|
NM_000726.5(CACNB4):c.*5372T>C
|
rs150406641
|
0.00778
|
NM_000726.5(CACNB4):c.*2210A>G
|
rs114341631
|
0.00772
|
NM_000726.5(CACNB4):c.*2695G>T
|
rs74894311
|
0.00768
|
NM_001161352.2(KCNMA1):c.*634C>G
|
rs74139846
|
0.00747
|
NM_198859.4(PRICKLE2):c.*3852C>A
|
rs153731
|
0.00717
|
NM_000726.5(CACNB4):c.*4773A>G
|
rs113408437
|
0.00714
|
NM_001161352.2(KCNMA1):c.1749+11G>A
|
rs116546993
|
0.00682
|
NM_000726.5(CACNB4):c.*1284T>G
|
rs112989362
|
0.00674
|
NM_000726.5(CACNB4):c.1303-3T>C
|
rs143442080
|
0.00617
|
NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly)
|
rs77602559
|
0.00605
|
NM_005097.4(LGI1):c.*215T>C
|
rs17502662
|
0.00589
|
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=)
|
rs45527834
|
0.00578
|
NM_198904.4(GABRG2):c.360G>A (p.Thr120=)
|
rs77298346
|
0.00541
|
NM_001161352.2(KCNMA1):c.*1765T>C
|
rs80189498
|
0.00532
|
NM_198904.4(GABRG2):c.717A>G (p.Gln239=)
|
rs78261481
|
0.00489
|
NM_020361.5(CPA6):c.*242T>C
|
rs527673781
|
0.00486
|
NM_000100.4(CSTB):c.67-3T>C
|
rs6383
|
0.00473
|
NM_000726.5(CACNB4):c.*2391T>G
|
rs143821304
|
0.00454
|
NM_198904.4(GABRG2):c.*343A>G
|
rs41275341
|
0.00432
|
NM_000742.4(CHRNA2):c.*1873A>G
|
rs146191907
|
0.00387
|
NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=)
|
rs45586138
|
0.00372
|
NM_198904.4(GABRG2):c.*385G>A
|
rs185169107
|
0.00360
|
NM_000726.5(CACNB4):c.*2729G>A
|
rs144329745
|
0.00357
|
NM_198586.3(NHLRC1):c.*320G>A
|
rs79197160
|
0.00352
|
NM_000726.5(CACNB4):c.*6140G>T
|
rs74944346
|
0.00321
|
NM_000726.5(CACNB4):c.599-15G>A
|
rs41270209
|
0.00314
|
NM_001161352.2(KCNMA1):c.945C>T (p.Ala315=)
|
rs79713097
|
0.00314
|
NM_000726.5(CACNB4):c.*5855A>C
|
rs118093432
|
0.00312
|
NM_001161352.2(KCNMA1):c.*690C>A
|
rs145289064
|
0.00312
|
NM_153033.5(KCTD7):c.*3612G>A
|
rs35633983
|
0.00306
|
NM_000726.5(CACNB4):c.*1942T>C
|
rs139629003
|
0.00300
|
NM_020361.5(CPA6):c.809C>T (p.Ala270Val)
|
rs114402678
|
0.00300
|
NM_020361.5(CPA6):c.975A>G (p.Ala325=)
|
rs138313759
|
0.00299
|
NM_198586.3(NHLRC1):c.*875T>C
|
rs72839174
|
0.00296
|
NM_000726.5(CACNB4):c.*1909C>T
|
rs113319414
|
0.00256
|
NM_198859.4(PRICKLE2):c.1527G>A (p.Glu509=)
|
rs144455095
|
0.00228
|
NM_153033.5(KCTD7):c.*1619A>G
|
rs115778754
|
0.00220
|
NM_198859.4(PRICKLE2):c.*4057G>A
|
rs140931283
|
0.00204
|
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg)
|
rs200662010
|
0.00201
|
NM_018100.4(EFHC1):c.*233T>A
|
rs538486876
|
0.00193
|
NM_000726.5(CACNB4):c.*5622C>T
|
rs187012852
|
0.00191
|
NM_198859.4(PRICKLE2):c.444C>T (p.Arg148=)
|
rs146538069
|
0.00190
|
NM_001161352.2(KCNMA1):c.*2183C>T
|
rs201067003
|
0.00188
|
NM_153033.4(KCTD7):c.*3991G>C
|
rs147205609
|
0.00168
|
NM_198904.4(GABRG2):c.*261G>A
|
rs148001179
|
0.00153
|
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=)
|
rs45617636
|
0.00151
|
NM_000726.5(CACNB4):c.1413G>A (p.Arg471=)
|
rs1805029
|
0.00148
|
NM_198859.4(PRICKLE2):c.788-6T>C
|
rs180903875
|
0.00143
|
NM_020361.5(CPA6):c.1077G>A (p.Gln359=)
|
rs143536122
|
0.00132
|
NM_000726.5(CACNB4):c.*1093T>C
|
rs142139235
|
0.00122
|
NM_000726.5(CACNB4):c.*2188T>G
|
rs548234328
|
0.00122
|
NM_000742.3(CHRNA2):c.*1882C>A
|
rs570954015
|
0.00121
|
NM_198904.4(GABRG2):c.*1636T>C
|
rs551794496
|
0.00113
|
NM_198904.4(GABRG2):c.*2095C>G
|
rs138297122
|
0.00105
|
NM_000726.5(CACNB4):c.*1814G>A
|
rs181447432
|
0.00103
|
NM_001134407.3(GRIN2A):c.*2586C>T
|
rs181616477
|
0.00102
|
NM_001161352.2(KCNMA1):c.2015+7G>A
|
rs78670694
|
0.00097
|
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe)
|
rs200092211
|
0.00091
|
NM_000726.5(CACNB4):c.*4969G>A
|
rs537140595
|
0.00076
|
NM_000726.5(CACNB4):c.*1110C>A
|
rs147608603
|
0.00074
|
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe)
|
rs1805031
|
0.00074
|
NM_198586.3(NHLRC1):c.*720T>C
|
rs141863990
|
0.00071
|
NM_153033.5(KCTD7):c.*1839T>C
|
rs137946765
|
0.00052
|
NM_001122752.2(SERPINI1):c.-19+117A>G
|
rs145045884
|
0.00043
|
NM_000726.5(CACNB4):c.*4976T>C
|
rs191424720
|
0.00042
|
NM_000726.5(CACNB4):c.*5562A>G
|
rs192309143
|
0.00042
|
NM_153033.5(KCTD7):c.*221G>T
|
rs151151235
|
0.00037
|
NM_000726.5(CACNB4):c.*4131A>G
|
rs373381936
|
0.00036
|
NM_198904.4(GABRG2):c.*1518A>G
|
rs567153845
|
0.00035
|
NM_001161352.2(KCNMA1):c.*2138C>T
|
rs77051509
|
0.00030
|
NM_001134407.3(GRIN2A):c.83A>C (p.Glu28Ala)
|
rs146839931
|
0.00026
|
NM_001161352.2(KCNMA1):c.*1100C>T
|
rs199706896
|
0.00024
|
NM_000726.5(CACNB4):c.8C>T (p.Ser3Phe)
|
rs542973906
|
0.00021
|
NM_198859.4(PRICKLE2):c.*133G>A
|
rs370569305
|
0.00021
|
NM_000726.5(CACNB4):c.*4570T>C
|
rs549017506
|
0.00019
|
NM_000726.5(CACNB4):c.*4T>C
|
rs556761275
|
0.00019
|
NM_001161352.2(KCNMA1):c.*1315C>T
|
rs147816527
|
0.00018
|
NM_001161352.2(KCNMA1):c.2548G>A (p.Val850Ile)
|
rs142770262
|
0.00017
|
NM_153033.5(KCTD7):c.*2137T>C
|
rs138958447
|
0.00017
|
NM_198859.4(PRICKLE2):c.*4354C>G
|
rs186186236
|
0.00017
|
NM_198904.4(GABRG2):c.768C>T (p.Ser256=)
|
rs201672465
|
0.00015
|
NM_000726.5(CACNB4):c.*1009C>T
|
rs367723727
|
0.00014
|
NM_001134407.3(GRIN2A):c.963C>T (p.Tyr321=)
|
rs368200727
|
0.00014
|
NM_153033.5(KCTD7):c.-49C>T
|
rs374505432
|
0.00013
|
NM_000726.5(CACNB4):c.*3475A>T
|
rs567549082
|
0.00012
|
NM_000726.5(CACNB4):c.*1910_*1911del
|
rs372743707
|
0.00011
|
NM_001134407.3(GRIN2A):c.1007+13T>G
|
rs199862009
|
0.00009
|
NM_001134407.3(GRIN2A):c.419C>T (p.Pro140Leu)
|
rs142566406
|
0.00007
|
NM_001134407.3(GRIN2A):c.1141C>T (p.His381Tyr)
|
rs757464009
|
0.00006
|
NM_001134407.3(GRIN2A):c.2760A>G (p.Arg920=)
|
rs80138441
|
0.00006
|
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.1123C>G (p.Pro375Ala)
|
rs746613509
|
0.00004
|
NM_001134407.3(GRIN2A):c.3138A>G (p.Leu1046=)
|
rs773244936
|
0.00004
|
NM_001134407.3(GRIN2A):c.3884T>C (p.Ile1295Thr)
|
rs757351084
|
0.00004
|
NM_001161352.2(KCNMA1):c.3267G>A (p.Pro1089=)
|
rs189703190
|
0.00004
|
NM_198859.4(PRICKLE2):c.*2633G>A
|
rs140420417
|
0.00003
|
NM_001122752.2(SERPINI1):c.281C>T (p.Ser94Leu)
|
rs781486255
|
0.00002
|
NM_001161352.2(KCNMA1):c.*1243T>C
|
rs141466507
|
0.00002
|
NM_198859.4(PRICKLE2):c.*2269T>C
|
rs550841859
|
0.00002
|
NM_198859.4(PRICKLE2):c.*3178G>C
|
rs528929996
|
0.00002
|
NM_000726.5(CACNB4):c.177G>A (p.Pro59=)
|
rs552093496
|
0.00001
|
NM_000726.5(CACNB4):c.521+9C>T
|
rs747291810
|
0.00001
|
NM_198904.4(GABRG2):c.*797G>T
|
rs118064447
|
0.00001
|
NM_000726.4(CACNB4):c.-70G>A
|
rs183873853
|
|
NM_000726.5(CACNB4):c.*3668T>C
|
rs543493236
|
|
NM_000726.5(CACNB4):c.*443A>G
|
rs538829019
|
|
NM_000726.5(CACNB4):c.*787del
|
rs560958457
|
|
NM_000742.4(CHRNA2):c.*1286del
|
rs199764226
|
|
NM_001134407.3(GRIN2A):c.*7650_*7654del
|
rs537062402
|
|
NM_001161352.2(KCNMA1):c.*113dup
|
rs144100057
|
|
NM_001161352.2(KCNMA1):c.*1288A>T
|
rs78082918
|
|
NM_001161352.2(KCNMA1):c.-101_-96dup
|
rs545094311
|
|
NM_001161352.2(KCNMA1):c.117CTC[8] (p.Ser60dup)
|
rs572827902
|
|
NM_001161352.2(KCNMA1):c.15_16insAGC (p.Gly5_Gly6insSer)
|
rs780558929
|
|
NM_004287.5(GOSR2):c.*288_*296dup
|
rs376212419
|
|
NM_004287.5(GOSR2):c.7C>A (p.Pro3Thr)
|
rs12944167
|
|
NM_005025.4(SERPINI1):c.*256dupT
|
rs547381979
|
|
NM_005097.3(LGI1):c.-280G>C
|
rs74150339
|
|
NM_018100.3(EFHC1):c.-148_-147GC[1]
|
rs796720054
|
|
NM_018100.4(EFHC1):c.*1025AT[12]
|
rs59794069
|
|
NM_018100.4(EFHC1):c.*1025AT[9]
|
rs59794069
|
|
NM_018100.4(EFHC1):c.*1325dup
|
rs35994917
|
|
NM_018100.4(EFHC1):c.*392A>C
|
rs9463792
|
|
NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp)
|
rs3804506
|
|
NM_153026.3(PRICKLE1):c.-122CGCAGCCC[3]
|
rs561368128
|
|
NM_198904.4(GABRG2):c.*441T>C
|
rs188825588
|
|