NM_000726.5(CACNB4):c.*5385C>T
|
rs1568673
|
0.93666
|
NM_018100.4(EFHC1):c.*881A>T
|
rs6926242
|
0.90714
|
NM_018100.4(EFHC1):c.*121C>A
|
rs7757370
|
0.87583
|
NM_018100.4(EFHC1):c.*1180G>A
|
rs4455668
|
0.87433
|
NM_018100.4(EFHC1):c.*3144T>A
|
rs3789772
|
0.70161
|
NM_001127644.2(GABRA1):c.1059+15G>A
|
rs2279020
|
0.62825
|
NM_001127644.2(GABRA1):c.*1506A>C
|
rs998754
|
0.60031
|
NM_001127644.2(GABRA1):c.*470A>G
|
rs2290732
|
0.59993
|
NM_000726.5(CACNB4):c.*442G>A
|
rs7597215
|
0.39502
|
NM_018100.4(EFHC1):c.*3406T>C
|
rs6919266
|
0.36710
|
NM_000726.5(CACNB4):c.*3804G>C
|
rs2344734
|
0.33115
|
NM_000806.5(GABRA1):c.-441A>G
|
rs11576001
|
0.29650
|
NM_001127644.2(GABRA1):c.156T>C (p.Gly52=)
|
rs1129647
|
0.23538
|
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_001127644.2(GABRA1):c.-142A>G
|
rs12658835
|
0.18269
|
NM_018100.4(EFHC1):c.*2419A>G
|
rs9474228
|
0.17191
|
NM_001127644.2(GABRA1):c.-31C>T
|
rs4608967
|
0.13210
|
NM_000726.5(CACNB4):c.*1185T>C
|
rs13410490
|
0.11625
|
NM_000726.5(CACNB4):c.*1186G>T
|
rs72868010
|
0.09750
|
NM_018100.4(EFHC1):c.*871C>G
|
rs78956562
|
0.09084
|
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_000726.5(CACNB4):c.1239G>A (p.Leu413=)
|
rs1805028
|
0.05818
|
NM_001127644.2(GABRA1):c.857-18T>C
|
rs78782356
|
0.05705
|
NM_000726.5(CACNB4):c.762T>A (p.Ile254=)
|
rs61736804
|
0.05586
|
NM_018100.4(EFHC1):c.545G>A (p.Arg182His)
|
rs3804505
|
0.05453
|
NM_000726.5(CACNB4):c.*5029T>C
|
rs16830412
|
0.05230
|
NM_000726.5(CACNB4):c.*890G>C
|
rs78697588
|
0.04885
|
NM_018100.3(EFHC1):c.-195A>G
|
rs2296196
|
0.04417
|
NM_018100.4(EFHC1):c.*1024C>T
|
rs372975445
|
0.03953
|
NM_000726.5(CACNB4):c.*4771G>A
|
rs80248494
|
0.03690
|
NM_001127644.2(GABRA1):c.*937C>A
|
rs41315924
|
0.03642
|
NM_018100.4(EFHC1):c.*2164G>A
|
rs59722297
|
0.02831
|
NM_000726.5(CACNB4):c.*1656T>C
|
rs62174451
|
0.02784
|
NM_000726.5(CACNB4):c.*3157T>A
|
rs10497086
|
0.02768
|
NM_001127644.2(GABRA1):c.-53C>A
|
rs75583203
|
0.01969
|
NM_000726.5(CACNB4):c.*2885T>C
|
rs116457978
|
0.01717
|
NM_000726.5(CACNB4):c.*2163G>A
|
rs80306085
|
0.01698
|
NM_004366.6(CLCN2):c.2063G>A (p.Arg688Gln)
|
rs111656822
|
0.01603
|
NM_001127644.2(GABRA1):c.*1929T>C
|
rs2290733
|
0.01265
|
NM_001127644.2(GABRA1):c.*1697A>G
|
rs75337618
|
0.01133
|
NM_000726.5(CACNB4):c.*2778A>C
|
rs114659375
|
0.01105
|
NM_000726.5(CACNB4):c.*1459T>C
|
rs114958916
|
0.01102
|
NM_001127644.2(GABRA1):c.96A>G (p.Gln32=)
|
rs76224028
|
0.01067
|
NM_004366.6(CLCN2):c.2271+8T>G
|
rs114350071
|
0.01055
|
NM_000726.5(CACNB4):c.*865G>A
|
rs75365487
|
0.00988
|
NM_018100.4(EFHC1):c.881G>A (p.Arg294His)
|
rs1570624
|
0.00969
|
NM_001127644.2(GABRA1):c.*2035G>A
|
rs73317010
|
0.00933
|
NM_000726.5(CACNB4):c.*2837A>G
|
rs138327808
|
0.00888
|
NM_000726.5(CACNB4):c.*528A>T
|
rs111999910
|
0.00814
|
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_000726.5(CACNB4):c.*4773A>G
|
rs113408437
|
0.00714
|
NM_000726.5(CACNB4):c.*1284T>G
|
rs112989362
|
0.00674
|
NM_000726.5(CACNB4):c.1303-3T>C
|
rs143442080
|
0.00617
|
NM_001127644.2(GABRA1):c.-16+8C>A
|
rs138671319
|
0.00544
|
NM_000726.5(CACNB4):c.-25G>T
|
rs143675846
|
0.00516
|
NM_018100.3(EFHC1):c.-162C>T
|
rs41273738
|
0.00472
|
NM_001127644.2(GABRA1):c.*1381T>C
|
rs187522588
|
0.00463
|
NM_000726.5(CACNB4):c.*2391T>G
|
rs143821304
|
0.00454
|
NM_001127644.2(GABRA1):c.*2098C>T
|
rs147837301
|
0.00428
|
NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=)
|
rs138259457
|
0.00428
|
NM_001127644.2(GABRA1):c.*1821T>G
|
rs10059108
|
0.00427
|
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val)
|
rs73740379
|
0.00408
|
NM_018100.4(EFHC1):c.*896C>T
|
rs112311115
|
0.00399
|
NM_000726.5(CACNB4):c.*2729G>A
|
rs144329745
|
0.00357
|
NM_000806.5(GABRA1):c.-449G>C
|
rs190043578
|
0.00355
|
NM_004366.6(CLCN2):c.2415+9A>G
|
rs192449317
|
0.00351
|
NM_000726.5(CACNB4):c.*624A>T
|
rs755272601
|
0.00332
|
NM_000726.5(CACNB4):c.*6140G>T
|
rs74944346
|
0.00321
|
NM_000726.5(CACNB4):c.599-15G>A
|
rs41270209
|
0.00314
|
NM_000726.5(CACNB4):c.*5855A>C
|
rs118093432
|
0.00312
|
NM_000726.5(CACNB4):c.*1942T>C
|
rs139629003
|
0.00300
|
NM_000726.5(CACNB4):c.*5022A>G
|
rs548177540
|
0.00298
|
NM_018100.4(EFHC1):c.25T>C (p.Leu9=)
|
rs149315015
|
0.00264
|
NM_018100.4(EFHC1):c.887G>A (p.Arg296His)
|
rs115205076
|
0.00261
|
NM_000726.5(CACNB4):c.*1909C>T
|
rs113319414
|
0.00256
|
NM_001127644.2(GABRA1):c.*2523A>C
|
rs567624810
|
0.00224
|
NM_000806.5(GABRA1):c.-446G>C
|
rs28364635
|
0.00203
|
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg)
|
rs200662010
|
0.00201
|
NM_018100.4(EFHC1):c.*1876T>G
|
rs148070071
|
0.00194
|
NM_018100.4(EFHC1):c.*233T>A
|
rs538486876
|
0.00193
|
NM_000726.5(CACNB4):c.*5622C>T
|
rs187012852
|
0.00191
|
NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln)
|
rs115961753
|
0.00156
|
NM_000726.5(CACNB4):c.1413G>A (p.Arg471=)
|
rs1805029
|
0.00148
|
NM_001127644.2(GABRA1):c.*988A>G
|
rs182930988
|
0.00140
|
NM_000726.5(CACNB4):c.*1093T>C
|
rs142139235
|
0.00122
|
NM_000726.5(CACNB4):c.*2188T>G
|
rs548234328
|
0.00122
|
NM_001127644.2(GABRA1):c.-162G>A
|
rs547029877
|
0.00121
|
NM_004366.6(CLCN2):c.1930C>T (p.Arg644Cys)
|
rs148545588
|
0.00119
|
NM_004366.6(CLCN2):c.616-19C>T
|
rs189868847
|
0.00112
|
NM_004366.6(CLCN2):c.1086-17G>A
|
rs200509841
|
0.00111
|
NM_018100.4(EFHC1):c.*99T>A
|
rs151292895
|
0.00110
|
NM_004366.6(CLCN2):c.1128G>A (p.Thr376=)
|
rs149773402
|
0.00109
|
NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln)
|
rs71318369
|
0.00108
|
NM_000726.5(CACNB4):c.*1814G>A
|
rs181447432
|
0.00103
|
NM_000726.5(CACNB4):c.*737C>T
|
rs558590558
|
0.00096
|
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe)
|
rs200092211
|
0.00091
|
NM_001127644.2(GABRA1):c.27C>A (p.Asp9Glu)
|
rs113886269
|
0.00087
|
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_001127644.2(GABRA1):c.*1752G>T
|
rs41303356
|
0.00066
|
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=)
|
rs41308303
|
0.00066
|
NM_001127644.2(GABRA1):c.255+12C>T
|
rs144727170
|
0.00066
|
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=)
|
rs200750234
|
0.00066
|
NM_018100.4(EFHC1):c.64-5T>C
|
rs201860746
|
0.00063
|
NM_000806.5(GABRA1):c.-405T>C
|
rs181962869
|
0.00059
|
NM_018100.4(EFHC1):c.90G>A (p.Thr30=)
|
rs140429638
|
0.00059
|
NM_018100.4(EFHC1):c.*527C>T
|
rs540732861
|
0.00050
|
NM_004366.6(CLCN2):c.1730G>A (p.Arg577Gln)
|
rs137852682
|
0.00047
|
NM_001127644.2(GABRA1):c.*630T>C
|
rs578077816
|
0.00046
|
NM_000726.5(CACNB4):c.*4976T>C
|
rs191424720
|
0.00042
|
NM_000726.5(CACNB4):c.*5562A>G
|
rs192309143
|
0.00042
|
NM_001127644.2(GABRA1):c.*401G>A
|
rs541504060
|
0.00041
|
NM_000726.5(CACNB4):c.*592T>C
|
rs779110885
|
0.00039
|
NM_001127644.2(GABRA1):c.*433G>C
|
rs140183311
|
0.00038
|
NM_000726.5(CACNB4):c.*4131A>G
|
rs373381936
|
0.00036
|
NM_018100.4(EFHC1):c.*1576C>A
|
rs547537212
|
0.00029
|
NM_001127644.2(GABRA1):c.441G>T (p.Arg147=)
|
rs190024862
|
0.00028
|
NM_004366.6(CLCN2):c.1633G>A (p.Ala545Thr)
|
rs137978189
|
0.00027
|
NM_000726.5(CACNB4):c.*1952C>A
|
rs764877003
|
0.00026
|
NM_001127644.2(GABRA1):c.*1781T>C
|
rs952357734
|
0.00022
|
NM_001127644.2(GABRA1):c.1350A>G (p.Lys450=)
|
rs142385746
|
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_001127644.2(GABRA1):c.886T>C (p.Leu296=)
|
rs149677108
|
0.00021
|
NM_018100.4(EFHC1):c.1587G>A (p.Ala529=)
|
rs377227885
|
0.00021
|
NM_001127644.2(GABRA1):c.74+19A>G
|
rs370522819
|
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_001127644.2(GABRA1):c.*1601T>G
|
rs886060369
|
0.00019
|
NM_018100.4(EFHC1):c.911A>G (p.Asn304Ser)
|
rs142107827
|
0.00019
|
NM_004366.6(CLCN2):c.879A>G (p.Ala293=)
|
rs138937943
|
0.00018
|
NM_004366.6(CLCN2):c.1491G>A (p.Gly497=)
|
rs138627624
|
0.00017
|
NM_004366.6(CLCN2):c.936C>G (p.Leu312=)
|
rs41266267
|
0.00016
|
NM_001127644.2(GABRA1):c.*398A>C
|
rs374845401
|
0.00015
|
NM_001127644.2(GABRA1):c.1086T>C (p.Ile362=)
|
rs187648029
|
0.00015
|
NM_001127644.2(GABRA1):c.231C>T (p.Phe77=)
|
rs566224462
|
0.00015
|
NM_001127644.2(GABRA1):c.704-17T>G
|
rs115043829
|
0.00015
|
NM_000726.5(CACNB4):c.*1009C>T
|
rs367723727
|
0.00014
|
NM_001127644.2(GABRA1):c.-4C>T
|
rs375475234
|
0.00014
|
NM_004366.6(CLCN2):c.1548C>A (p.Ser516=)
|
rs370266713
|
0.00014
|
NM_000726.5(CACNB4):c.1355G>A (p.Arg452Lys)
|
rs762394421
|
0.00013
|
NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser)
|
rs143815396
|
0.00013
|
NM_004366.6(CLCN2):c.719T>C (p.Leu240Pro)
|
rs143751880
|
0.00013
|
NM_000726.5(CACNB4):c.*3475A>T
|
rs567549082
|
0.00012
|
NM_001127644.2(GABRA1):c.*1324T>C
|
rs866632459
|
0.00012
|
NM_001127644.2(GABRA1):c.*1426A>G
|
rs952390349
|
0.00012
|
NM_001127644.2(GABRA1):c.1079C>A (p.Pro360His)
|
rs80337021
|
0.00012
|
NM_004366.6(CLCN2):c.1600G>C (p.Val534Leu)
|
rs200337116
|
0.00012
|
NM_004366.6(CLCN2):c.221-8G>A
|
rs769713180
|
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_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_001127644.2(GABRA1):c.*1984T>C
|
rs1015675139
|
0.00011
|
NM_001127644.2(GABRA1):c.-252T>C
|
rs766490931
|
0.00011
|
NM_001127644.2(GABRA1):c.612C>T (p.Arg204=)
|
rs374616425
|
0.00011
|
NM_004366.6(CLCN2):c.726C>T (p.Ala242=)
|
rs768569603
|
0.00011
|
NM_001127644.2(GABRA1):c.-220T>C
|
rs186477194
|
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.731G>A (p.Arg244Gln)
|
rs140476054
|
0.00010
|
NM_000726.5(CACNB4):c.*4919G>A
|
rs763593694
|
0.00009
|
NM_000726.5(CACNB4):c.*5487T>C
|
rs111700454
|
0.00009
|
NM_000726.5(CACNB4):c.91A>C (p.Ser31Arg)
|
rs773391545
|
0.00009
|
NM_004366.6(CLCN2):c.898+1G>A
|
rs141074059
|
0.00009
|
NM_018100.4(EFHC1):c.1385T>C (p.Ile462Thr)
|
rs200116252
|
0.00009
|
NM_001127644.2(GABRA1):c.*2009G>C
|
rs139565984
|
0.00008
|
NM_001127644.2(GABRA1):c.*2279G>A
|
rs575186628
|
0.00008
|
NM_001127644.2(GABRA1):c.*456C>T
|
rs945683052
|
0.00008
|
NM_004366.6(CLCN2):c.1141C>G (p.Pro381Ala)
|
rs141605519
|
0.00008
|
NM_018100.4(EFHC1):c.1892A>G (p.Tyr631Cys)
|
rs574948354
|
0.00008
|
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln)
|
rs145754721
|
0.00008
|
NM_001127644.2(GABRA1):c.1070T>C (p.Val357Ala)
|
rs749707253
|
0.00007
|
NM_001127644.2(GABRA1):c.846A>G (p.Arg282=)
|
rs139467768
|
0.00007
|
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_001127644.2(GABRA1):c.*213C>T
|
rs886060362
|
0.00006
|
NM_001127644.2(GABRA1):c.704-10T>C
|
rs188133840
|
0.00006
|
NM_004366.6(CLCN2):c.1214C>T (p.Thr405Met)
|
rs376497260
|
0.00006
|
NM_004366.6(CLCN2):c.2156C>T (p.Ser719Leu)
|
rs138573287
|
0.00006
|
NM_018100.4(EFHC1):c.*681G>A
|
rs560182875
|
0.00006
|
NM_018100.4(EFHC1):c.*957C>T
|
rs761411516
|
0.00006
|
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp)
|
rs369503191
|
0.00006
|
NM_001127644.2(GABRA1):c.*1512G>A
|
rs886060368
|
0.00005
|
NM_001127644.2(GABRA1):c.*413G>A
|
rs886060365
|
0.00005
|
NM_001127644.2(GABRA1):c.*771C>T
|
rs886060366
|
0.00005
|
NM_001127644.2(GABRA1):c.954C>T (p.Ala318=)
|
rs551045474
|
0.00005
|
NM_004366.6(CLCN2):c.1517C>T (p.Ala506Val)
|
rs769768770
|
0.00005
|
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_000806.5(GABRA1):c.-439A>G
|
rs886060357
|
0.00004
|
NM_001127644.2(GABRA1):c.*438A>C
|
rs1041886081
|
0.00004
|
NM_001127644.2(GABRA1):c.1218A>G (p.Pro406=)
|
rs371392768
|
0.00004
|
NM_001127644.2(GABRA1):c.1229A>G (p.Lys410Arg)
|
rs376031361
|
0.00004
|
NM_001127644.2(GABRA1):c.1284G>A (p.Pro428=)
|
rs74873701
|
0.00004
|
NM_001127644.2(GABRA1):c.216C>T (p.Ile72=)
|
rs200716712
|
0.00004
|
NM_001127644.2(GABRA1):c.476+16C>T
|
rs780581747
|
0.00004
|
NM_001127644.2(GABRA1):c.59C>T (p.Thr20Ile)
|
rs756553428
|
0.00004
|
NM_001127644.2(GABRA1):c.840A>G (p.Pro280=)
|
rs150497014
|
0.00004
|
NM_001127644.2(GABRA1):c.873C>T (p.Leu291=)
|
rs777911034
|
0.00004
|
NM_001127644.2(GABRA1):c.966C>T (p.Ala322=)
|
rs201133616
|
0.00004
|
NM_004366.6(CLCN2):c.1793G>A (p.Arg598Gln)
|
rs780348130
|
0.00004
|
NM_004366.6(CLCN2):c.1958G>C (p.Arg653Thr)
|
rs568335048
|
0.00004
|
NM_004366.6(CLCN2):c.2143+8C>T
|
rs752854427
|
0.00004
|
NM_004366.6(CLCN2):c.2642G>A (p.Arg881His)
|
rs199616806
|
0.00004
|
NM_018100.4(EFHC1):c.1265A>T (p.Tyr422Phe)
|
rs750259384
|
0.00004
|
NM_018100.4(EFHC1):c.151C>T (p.Arg51Trp)
|
rs374661645
|
0.00004
|
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_001127644.2(GABRA1):c.*1685C>T
|
rs1442411830
|
0.00003
|
NM_001127644.2(GABRA1):c.*325T>A
|
rs76047934
|
0.00003
|
NM_001127644.2(GABRA1):c.*993C>T
|
rs1013417216
|
0.00003
|
NM_001127644.2(GABRA1):c.384C>T (p.Phe128=)
|
rs1219475284
|
0.00003
|
NM_001127644.2(GABRA1):c.390T>C (p.Asn130=)
|
rs778019249
|
0.00003
|
NM_001127644.2(GABRA1):c.756C>T (p.Tyr252=)
|
rs775895535
|
0.00003
|
NM_001127644.2(GABRA1):c.834T>C (p.Ser278=)
|
rs749956729
|
0.00003
|
NM_001127644.2(GABRA1):c.86C>T (p.Pro29Leu)
|
rs200218956
|
0.00003
|
NM_001127644.2(GABRA1):c.93A>C (p.Leu31Phe)
|
rs747927213
|
0.00003
|
NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp)
|
rs371151471
|
0.00003
|
NM_018100.4(EFHC1):c.1765G>A (p.Glu589Lys)
|
rs201197637
|
0.00003
|
NM_018100.4(EFHC1):c.880C>T (p.Arg294Cys)
|
rs201543041
|
0.00003
|
NM_000726.5(CACNB4):c.*3387C>G
|
rs886054955
|
0.00002
|
NM_000806.5(GABRA1):c.-455G>A
|
rs531705924
|
0.00002
|
NM_001127644.2(GABRA1):c.*1061T>C
|
rs374002978
|
0.00002
|
NM_001127644.2(GABRA1):c.*1425T>C
|
rs919551233
|
0.00002
|
NM_001127644.2(GABRA1):c.*1609A>C
|
rs1231156247
|
0.00002
|
NM_001127644.2(GABRA1):c.1130C>T (p.Pro377Leu)
|
rs751571034
|
0.00002
|
NM_001127644.2(GABRA1):c.1146C>T (p.Gly382=)
|
rs79593368
|
0.00002
|
NM_001127644.2(GABRA1):c.1151C>T (p.Pro384Leu)
|
rs755336024
|
0.00002
|
NM_001127644.2(GABRA1):c.1234A>T (p.Thr412Ser)
|
rs1229633395
|
0.00002
|
NM_001127644.2(GABRA1):c.1261C>A (p.Arg421=)
|
rs756295089
|
0.00002
|
NM_001127644.2(GABRA1):c.198C>T (p.Thr66=)
|
rs770208588
|
0.00002
|
NM_001127644.2(GABRA1):c.237C>T (p.Pro79=)
|
rs536603724
|
0.00002
|
NM_001127644.2(GABRA1):c.297T>C (p.Asp99=)
|
rs750394365
|
0.00002
|
NM_001127644.2(GABRA1):c.33T>C (p.Leu11=)
|
rs766418049
|
0.00002
|
NM_001127644.2(GABRA1):c.477-14A>G
|
rs757378039
|
0.00002
|
NM_001127644.2(GABRA1):c.633T>C (p.Asp211=)
|
rs587780947
|
0.00002
|
NM_001127644.2(GABRA1):c.699T>C (p.Ser233=)
|
rs756876744
|
0.00002
|
NM_001127644.2(GABRA1):c.75C>T (p.Ser25=)
|
rs75423500
|
0.00002
|
NM_004366.6(CLCN2):c.154C>T (p.Pro52Ser)
|
rs184790106
|
0.00002
|
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter)
|
rs201330912
|
0.00002
|
NM_004366.6(CLCN2):c.2279C>T (p.Ala760Val)
|
rs781034991
|
0.00002
|
NM_004366.6(CLCN2):c.2499G>A (p.Lys833=)
|
rs368782176
|
0.00002
|
NM_018100.4(EFHC1):c.1451A>G (p.Tyr484Cys)
|
rs201261630
|
0.00002
|
NM_018100.4(EFHC1):c.1557C>T (p.Asn519=)
|
rs773385237
|
0.00002
|
NM_018100.4(EFHC1):c.43A>G (p.Thr15Ala)
|
rs750899949
|
0.00002
|
NM_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.1199G>A (p.Arg400His)
|
rs376491652
|
0.00001
|
NM_000726.5(CACNB4):c.147+14751T>C
|
rs915286423
|
0.00001
|
NM_000726.5(CACNB4):c.1470A>T (p.Glu490Asp)
|
rs768385119
|
0.00001
|
NM_000726.5(CACNB4):c.156G>A (p.Ala52=)
|
rs764332480
|
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_001127644.2(GABRA1):c.*1359T>C
|
rs1164629079
|
0.00001
|
NM_001127644.2(GABRA1):c.*1686G>A
|
rs1561590547
|
0.00001
|
NM_001127644.2(GABRA1):c.*1971T>C
|
rs886060372
|
0.00001
|
NM_001127644.2(GABRA1):c.*2334C>T
|
rs886060373
|
0.00001
|
NM_001127644.2(GABRA1):c.*838G>A
|
rs940074128
|
0.00001
|
NM_001127644.2(GABRA1):c.1026T>C (p.Tyr342=)
|
rs750925935
|
0.00001
|
NM_001127644.2(GABRA1):c.1045G>A (p.Val349Met)
|
rs1755340949
|
0.00001
|
NM_001127644.2(GABRA1):c.1104C>T (p.Tyr368=)
|
rs771832995
|
0.00001
|
NM_001127644.2(GABRA1):c.1108C>A (p.Pro370Thr)
|
rs1424508480
|
0.00001
|
NM_001127644.2(GABRA1):c.1127C>A (p.Thr376Asn)
|
rs761617651
|
0.00001
|
NM_001127644.2(GABRA1):c.1147G>A (p.Asp383Asn)
|
rs375377575
|
0.00001
|
NM_001127644.2(GABRA1):c.1156T>G (p.Leu386Val)
|
rs771316858
|
0.00001
|
NM_001127644.2(GABRA1):c.1179A>C (p.Ala393=)
|
rs779528536
|
0.00001
|
NM_001127644.2(GABRA1):c.1206C>T (p.Pro402=)
|
rs541335259
|
0.00001
|
NM_001127644.2(GABRA1):c.1228A>G (p.Lys410Glu)
|
rs1424659316
|
0.00001
|
NM_001127644.2(GABRA1):c.1297A>G (p.Ile433Val)
|
rs1057518405
|
0.00001
|
NM_001127644.2(GABRA1):c.1337A>G (p.Glu446Gly)
|
rs1755418006
|
0.00001
|
NM_001127644.2(GABRA1):c.1357A>G (p.Thr453Ala)
|
rs747892371
|
0.00001
|
NM_001127644.2(GABRA1):c.1358C>T (p.Thr453Ile)
|
rs1755420544
|
0.00001
|
NM_001127644.2(GABRA1):c.188A>C (p.Glu63Ala)
|
rs1429109541
|
0.00001
|
NM_001127644.2(GABRA1):c.219C>T (p.Phe73=)
|
rs1436904885
|
0.00001
|
NM_001127644.2(GABRA1):c.256-9A>T
|
rs1325544924
|
0.00001
|
NM_001127644.2(GABRA1):c.32T>C (p.Leu11Pro)
|
rs762939760
|
0.00001
|
NM_001127644.2(GABRA1):c.372G>A (p.Pro124=)
|
rs1378731581
|
0.00001
|
NM_001127644.2(GABRA1):c.378A>G (p.Thr126=)
|
rs756299135
|
0.00001
|
NM_001127644.2(GABRA1):c.385C>T (p.His129Tyr)
|
rs146134200
|
0.00001
|
NM_001127644.2(GABRA1):c.408C>T (p.Ala136=)
|
rs771269673
|
0.00001
|
NM_001127644.2(GABRA1):c.422T>G (p.Met141Arg)
|
rs1235304350
|
0.00001
|
NM_001127644.2(GABRA1):c.459C>T (p.Thr153=)
|
rs761693717
|
0.00001
|
NM_001127644.2(GABRA1):c.476+13G>A
|
rs758229064
|
0.00001
|
NM_001127644.2(GABRA1):c.476+17T>C
|
rs752753999
|
0.00001
|
NM_001127644.2(GABRA1):c.476+6G>A
|
rs764873956
|
0.00001
|
NM_001127644.2(GABRA1):c.477-5T>C
|
rs779231183
|
0.00001
|
NM_001127644.2(GABRA1):c.478C>T (p.Leu160=)
|
rs1269683161
|
0.00001
|
NM_001127644.2(GABRA1):c.531C>T (p.Ala177=)
|
rs747452052
|
0.00001
|
NM_001127644.2(GABRA1):c.602A>G (p.Glu201Gly)
|
rs765292293
|
0.00001
|
NM_001127644.2(GABRA1):c.611G>A (p.Arg204His)
|
rs777320447
|
0.00001
|
NM_001127644.2(GABRA1):c.672A>G (p.Thr224=)
|
rs372742479
|
0.00001
|
NM_001127644.2(GABRA1):c.677A>G (p.Asp226Gly)
|
rs748783999
|
0.00001
|
NM_001127644.2(GABRA1):c.691C>G (p.Gln231Glu)
|
rs1173993011
|
0.00001
|
NM_001127644.2(GABRA1):c.704-18G>A
|
rs758058259
|
0.00001
|
NM_001127644.2(GABRA1):c.74+10C>G
|
rs557887445
|
0.00001
|
NM_001127644.2(GABRA1):c.78T>C (p.Tyr26=)
|
rs779666888
|
0.00001
|
NM_001127644.2(GABRA1):c.831G>A (p.Glu277=)
|
rs764666718
|
0.00001
|
NM_001127644.2(GABRA1):c.856+11A>G
|
rs564871157
|
0.00001
|
NM_001127644.2(GABRA1):c.857-3C>T
|
rs1323709924
|
0.00001
|
NM_001127644.2(GABRA1):c.857-5T>C
|
rs543710675
|
0.00001
|
NM_001127644.2(GABRA1):c.87G>A (p.Pro29=)
|
rs374399356
|
0.00001
|
NM_001127644.2(GABRA1):c.8A>G (p.Lys3Arg)
|
rs111452646
|
0.00001
|
NM_001127644.2(GABRA1):c.94C>A (p.Gln32Lys)
|
rs769743354
|
0.00001
|
NM_001127644.2(GABRA1):c.972G>T (p.Val324=)
|
rs145617915
|
0.00001
|
NM_004366.6(CLCN2):c.1715G>A (p.Arg572His)
|
rs1303886490
|
0.00001
|
NM_004366.6(CLCN2):c.221-4C>A
|
rs748018356
|
0.00001
|
NM_004366.6(CLCN2):c.2623C>G (p.Leu875Val)
|
rs755134167
|
0.00001
|
NM_004366.6(CLCN2):c.481+18G>A
|
rs759220889
|
0.00001
|
NM_004366.6(CLCN2):c.515G>A (p.Arg172Gln)
|
rs1293789661
|
0.00001
|
NM_004366.6(CLCN2):c.672C>T (p.Ser224=)
|
rs755629585
|
0.00001
|
NM_018100.4(EFHC1):c.*2023T>C
|
rs886061638
|
0.00001
|
NM_018100.4(EFHC1):c.*226A>G
|
rs562067977
|
0.00001
|
NM_018100.4(EFHC1):c.1194T>C (p.Phe398=)
|
rs201946033
|
0.00001
|
NM_018100.4(EFHC1):c.144C>T (p.Gly48=)
|
rs372240827
|
0.00001
|
NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter)
|
rs149998588
|
0.00001
|
NM_018100.4(EFHC1):c.1895A>G (p.Tyr632Cys)
|
rs770182350
|
0.00001
|
NM_018100.4(EFHC1):c.346A>G (p.Arg116Gly)
|
rs886061627
|
0.00001
|
NM_018100.4(EFHC1):c.559G>A (p.Asp187Asn)
|
rs148615781
|
0.00001
|
NC_000005.10:g.162537506_162537507insTGTTTACTAAACAAAAAGAAAGAGC
|
rs587777363
|
|
NC_000005.9:g.(?_160721068)_(161528343_?)del
|
|
|
NC_000005.9:g.(?_161112996)_(161324428_?)dup
|
|
|
NC_000005.9:g.(?_161128494)_(161580374_?)del
|
|
|
NC_000005.9:g.(?_161292707)_(161495132_?)del
|
|
|
NC_000005.9:g.(?_161309544)_(161309727_?)del
|
|
|
NC_000006.12:g.(?_52423789)_(52492432_?)del
|
|
|
NC_000006.12:g.(?_52479017)_(52492432_?)del
|
|
|
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.610del (p.Gln204fs)
|
rs1057518688
|
|
NM_000726.5(CACNB4):c.642T>C (p.Asp214=)
|
rs886054967
|
|
NM_000726.5(CACNB4):c.669G>A (p.Val223=)
|
rs2151408188
|
|
NM_000726.5(CACNB4):c.959C>T (p.Ala320Val)
|
rs2151358415
|
|
NM_000746.6(CHRNA7):c.241-1G>A
|
rs1566846736
|
|
NM_000806.5(GABRA1):c.-248+5C>T
|
rs932077882
|
|
NM_000806.5(GABRA1):c.-248+8C>A
|
rs886060358
|
|
NM_000806.5(GABRA1):c.-399C>T
|
rs1581171032
|
|
NM_000806.5(GABRA1):c.-438del
|
rs112361424
|
|
NM_000806.5(GABRA1):c.-442dup
|
rs201310567
|
|
NM_000806.5(GABRA1):c.-447G>C
|
rs184629690
|
|
NM_000806.5(GABRA1):c.-447G>T
|
rs184629690
|
|
NM_000806.5(GABRA1):c.-448G>A
|
rs11576000
|
|
NM_000806.5(GABRA1):c.-448G>C
|
rs11576000
|
|
NM_001127644.2(GABRA1):c.*1319A>G
|
rs886060367
|
|
NM_001127644.2(GABRA1):c.*1443A>G
|
rs575959204
|
|
NM_001127644.2(GABRA1):c.*1526A>G
|
rs540638714
|
|
NM_001127644.2(GABRA1):c.*1611G>A
|
rs903295997
|
|
NM_001127644.2(GABRA1):c.*1659A>G
|
rs886060370
|
|
NM_001127644.2(GABRA1):c.*1749T>C
|
rs1755506626
|
|
NM_001127644.2(GABRA1):c.*1837C>G
|
rs886060371
|
|
NM_001127644.2(GABRA1):c.*1938A>G
|
rs1755514760
|
|
NM_001127644.2(GABRA1):c.*242C>G
|
rs1755432560
|
|
NM_001127644.2(GABRA1):c.*302A>G
|
rs886060364
|
|
NM_001127644.2(GABRA1):c.*304del
|
rs547262225
|
|
NM_001127644.2(GABRA1):c.*580G>A
|
rs534982201
|
|
NM_001127644.2(GABRA1):c.*580G>T
|
rs534982201
|
|
NM_001127644.2(GABRA1):c.*826G>A
|
rs957754896
|
|
NM_001127644.2(GABRA1):c.-10C>G
|
rs376699435
|
|
NM_001127644.2(GABRA1):c.-117GACTCG[3]
|
rs527890421
|
|
NM_001127644.2(GABRA1):c.-15-5T>G
|
rs1757413235
|
|
NM_001127644.2(GABRA1):c.-195A>G
|
rs886060359
|
|
NM_001127644.2(GABRA1):c.1001T>G (p.Val334Gly)
|
|
|
NM_001127644.2(GABRA1):c.1004A>T (p.Asn335Ile)
|
rs1581220295
|
|
NM_001127644.2(GABRA1):c.1008T>C (p.Tyr336=)
|
|
|
NM_001127644.2(GABRA1):c.1020A>C (p.Arg340Ser)
|
rs1561587910
|
|
NM_001127644.2(GABRA1):c.1020A>G (p.Arg340=)
|
|
|
NM_001127644.2(GABRA1):c.1029A>G (p.Ala343=)
|
rs1304537393
|
|
NM_001127644.2(GABRA1):c.1033G>A (p.Asp345Asn)
|
rs2113465051
|
|
NM_001127644.2(GABRA1):c.103C>A (p.Leu35Ile)
|
|
|
NM_001127644.2(GABRA1):c.1043G>C (p.Ser348Thr)
|
|
|
NM_001127644.2(GABRA1):c.1059+14T>C
|
|
|
NM_001127644.2(GABRA1):c.1059+2T>C
|
rs1755341108
|
|
NM_001127644.2(GABRA1):c.1059+7G>A
|
|
|
NM_001127644.2(GABRA1):c.1059+8C>A
|
rs758699164
|
|
NM_001127644.2(GABRA1):c.1060-10del
|
rs1581221506
|
|
NM_001127644.2(GABRA1):c.1060-14C>T
|
rs1755401207
|
|
NM_001127644.2(GABRA1):c.1065G>A (p.Lys355=)
|
rs1554087785
|
|
NM_001127644.2(GABRA1):c.1068A>G (p.Lys356=)
|
|
|
NM_001127644.2(GABRA1):c.1069G>A (p.Val357Ile)
|
|
|
NM_001127644.2(GABRA1):c.1070T>A (p.Val357Glu)
|
rs749707253
|
|
NM_001127644.2(GABRA1):c.1070_1074del (p.Val357fs)
|
|
|
NM_001127644.2(GABRA1):c.1078C>A (p.Pro360Thr)
|
|
|
NM_001127644.2(GABRA1):c.1078C>G (p.Pro360Ala)
|
|
|
NM_001127644.2(GABRA1):c.1078C>T (p.Pro360Ser)
|
|
|
NM_001127644.2(GABRA1):c.1079C>T (p.Pro360Leu)
|
rs80337021
|
|
NM_001127644.2(GABRA1):c.1081C>T (p.Leu361Phe)
|
|
|
NM_001127644.2(GABRA1):c.1099A>T (p.Thr367Ser)
|
rs2113469507
|
|
NM_001127644.2(GABRA1):c.1105G>A (p.Ala369Thr)
|
rs775344663
|
|
NM_001127644.2(GABRA1):c.1108C>T (p.Pro370Ser)
|
rs1424508480
|
|
NM_001127644.2(GABRA1):c.1138G>C (p.Ala380Pro)
|
rs2113469735
|
|
NM_001127644.2(GABRA1):c.1145G>A (p.Gly382Asp)
|
|
|
NM_001127644.2(GABRA1):c.1146C>A (p.Gly382=)
|
|
|
NM_001127644.2(GABRA1):c.1151C>G (p.Pro384Arg)
|
|
|
NM_001127644.2(GABRA1):c.1152G>A (p.Pro384=)
|
rs777957860
|
|
NM_001127644.2(GABRA1):c.1158A>T (p.Leu386Phe)
|
|
|
NM_001127644.2(GABRA1):c.1159G>T (p.Ala387Ser)
|
rs1561588765
|
|
NM_001127644.2(GABRA1):c.1160C>T (p.Ala387Val)
|
rs1755408701
|
|
NM_001127644.2(GABRA1):c.1162A>C (p.Thr388Pro)
|
rs2113469919
|
|
NM_001127644.2(GABRA1):c.1184T>C (p.Ile395Thr)
|
|
|
NM_001127644.2(GABRA1):c.1192A>G (p.Lys398Glu)
|
rs1755409878
|
|
NM_001127644.2(GABRA1):c.1199T>C (p.Val400Ala)
|
|
|
NM_001127644.2(GABRA1):c.11G>A (p.Ser4Asn)
|
rs796052487
|
|
NM_001127644.2(GABRA1):c.1202A>G (p.Lys401Arg)
|
rs745362654
|
|
NM_001127644.2(GABRA1):c.1206C>A (p.Pro402=)
|
|
|
NM_001127644.2(GABRA1):c.1207G>A (p.Glu403Lys)
|
rs775157869
|
|
NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln)
|
rs775157869
|
|
NM_001127644.2(GABRA1):c.1211C>G (p.Thr404Arg)
|
rs768389200
|
|
NM_001127644.2(GABRA1):c.1212A>G (p.Thr404=)
|
|
|
NM_001127644.2(GABRA1):c.1225C>T (p.Pro409Ser)
|
rs139793542
|
|
NM_001127644.2(GABRA1):c.1239T>C (p.Phe413=)
|
rs2113470244
|
|
NM_001127644.2(GABRA1):c.1244G>C (p.Ser415Thr)
|
rs752803296
|
|
NM_001127644.2(GABRA1):c.124T>C (p.Phe42Leu)
|
rs2113307162
|
|
NM_001127644.2(GABRA1):c.1251C>T (p.Ser417=)
|
|
|
NM_001127644.2(GABRA1):c.1253A>G (p.Lys418Arg)
|
rs1490107518
|
|
NM_001127644.2(GABRA1):c.1257T>C (p.Ile419=)
|
rs1755413332
|
|
NM_001127644.2(GABRA1):c.1259A>G (p.Asp420Gly)
|
|
|
NM_001127644.2(GABRA1):c.1260C>T (p.Asp420=)
|
|
|
NM_001127644.2(GABRA1):c.1261C>T (p.Arg421Ter)
|
|
|
NM_001127644.2(GABRA1):c.1263A>T (p.Arg421=)
|
rs1581221881
|
|
NM_001127644.2(GABRA1):c.1264C>T (p.Leu422=)
|
rs754135872
|
|
NM_001127644.2(GABRA1):c.1274T>C (p.Ile425Thr)
|
rs1755414752
|
|
NM_001127644.2(GABRA1):c.1288C>T (p.Leu430=)
|
|
|
NM_001127644.2(GABRA1):c.1290A>G (p.Leu430=)
|
rs886060361
|
|
NM_001127644.2(GABRA1):c.1321_1324delinsC (p.Thr441_Tyr442delinsHis)
|
rs1755416915
|
|
NM_001127644.2(GABRA1):c.1322C>T (p.Thr441Met)
|
rs145217327
|
|
NM_001127644.2(GABRA1):c.1329A>G (p.Leu443=)
|
rs2113470613
|
|
NM_001127644.2(GABRA1):c.1332C>G (p.Asn444Lys)
|
rs1554087843
|
|
NM_001127644.2(GABRA1):c.1347A>G (p.Leu449=)
|
|
|
NM_001127644.2(GABRA1):c.134T>C (p.Ile45Thr)
|
|
|
NM_001127644.2(GABRA1):c.1350dup (p.Ala451fs)
|
|
|
NM_001127644.2(GABRA1):c.1351G>A (p.Ala451Thr)
|
rs1312439667
|
|
NM_001127644.2(GABRA1):c.1354_1356dup (p.Pro452dup)
|
rs1755419468
|
|
NM_001127644.2(GABRA1):c.1357A>C (p.Thr453Pro)
|
rs747892371
|
|
NM_001127644.2(GABRA1):c.1358_1359delinsTC (p.Thr453Ile)
|
|
|
NM_001127644.2(GABRA1):c.1360C>T (p.Pro454Ser)
|
|
|
NM_001127644.2(GABRA1):c.1365T>C (p.His455=)
|
|
|
NM_001127644.2(GABRA1):c.1366C>T (p.Gln456Ter)
|
rs1755420995
|
|
NM_001127644.2(GABRA1):c.138G>T (p.Leu46Phe)
|
|
|
NM_001127644.2(GABRA1):c.13C>T (p.Pro5Ser)
|
rs866369940
|
|
NM_001127644.2(GABRA1):c.147C>A (p.Leu49=)
|
rs2113307246
|
|
NM_001127644.2(GABRA1):c.148C>T (p.Leu50=)
|
rs2113307265
|
|
NM_001127644.2(GABRA1):c.150A>G (p.Leu50=)
|
rs1006797468
|
|
NM_001127644.2(GABRA1):c.153T>C (p.Asp51=)
|
|
|
NM_001127644.2(GABRA1):c.167G>A (p.Arg56His)
|
|
|
NM_001127644.2(GABRA1):c.176C>T (p.Pro59Leu)
|
rs1064796448
|
|
NM_001127644.2(GABRA1):c.187+16G>T
|
|
|
NM_001127644.2(GABRA1):c.187+5G>T
|
rs368360804
|
|
NM_001127644.2(GABRA1):c.188-12C>G
|
|
|
NM_001127644.2(GABRA1):c.188-14T>C
|
|
|
NM_001127644.2(GABRA1):c.188-15T>A
|
|
|
NM_001127644.2(GABRA1):c.188-19C>T
|
|
|
NM_001127644.2(GABRA1):c.188-9C>A
|
|
|
NM_001127644.2(GABRA1):c.190C>T (p.Arg64Cys)
|
rs1753807484
|
|
NM_001127644.2(GABRA1):c.191G>A (p.Arg64His)
|
rs1753807587
|
|
NM_001127644.2(GABRA1):c.197C>A (p.Thr66Asn)
|
rs2113354062
|
|
NM_001127644.2(GABRA1):c.200A>T (p.Glu67Val)
|
|
|
NM_001127644.2(GABRA1):c.201A>G (p.Glu67=)
|
rs766903604
|
|
NM_001127644.2(GABRA1):c.20T>G (p.Leu7Arg)
|
|
|
NM_001127644.2(GABRA1):c.214A>C (p.Ile72Leu)
|
|
|
NM_001127644.2(GABRA1):c.216C>A (p.Ile72=)
|
|
|
NM_001127644.2(GABRA1):c.216C>G (p.Ile72Met)
|
|
|
NM_001127644.2(GABRA1):c.217T>A (p.Phe73Ile)
|
rs1753808798
|
|
NM_001127644.2(GABRA1):c.226A>G (p.Ser76Gly)
|
rs1402107983
|
|
NM_001127644.2(GABRA1):c.227G>A (p.Ser76Asn)
|
|
|
NM_001127644.2(GABRA1):c.232G>A (p.Gly78Arg)
|
rs1561571575
|
|
NM_001127644.2(GABRA1):c.234A>C (p.Gly78=)
|
rs1753809692
|
|
NM_001127644.2(GABRA1):c.235C>A (p.Pro79Thr)
|
rs2113354212
|
|
NM_001127644.2(GABRA1):c.243A>C (p.Ser81=)
|
rs1362339390
|
|
NM_001127644.2(GABRA1):c.250G>C (p.Asp84His)
|
|
|
NM_001127644.2(GABRA1):c.253A>G (p.Met85Val)
|
|
|
NM_001127644.2(GABRA1):c.255+10C>A
|
|
|
NM_001127644.2(GABRA1):c.255+8G>A
|
|
|
NM_001127644.2(GABRA1):c.255+9A>T
|
|
|
NM_001127644.2(GABRA1):c.256-2A>G
|
rs1064795805
|
|
NM_001127644.2(GABRA1):c.256-4C>T
|
|
|
NM_001127644.2(GABRA1):c.258A>G (p.Glu86=)
|
|
|
NM_001127644.2(GABRA1):c.261T>C (p.Tyr87=)
|
rs1057523723
|
|
NM_001127644.2(GABRA1):c.268G>A (p.Asp90Asn)
|
rs796052488
|
|
NM_001127644.2(GABRA1):c.268G>T (p.Asp90Tyr)
|
rs796052488
|
|
NM_001127644.2(GABRA1):c.269A>G (p.Asp90Gly)
|
|
|
NM_001127644.2(GABRA1):c.275T>C (p.Phe92Ser)
|
rs2113380903
|
|
NM_001127644.2(GABRA1):c.281G>A (p.Arg94His)
|
|
|
NM_001127644.2(GABRA1):c.287G>T (p.Ser96Ile)
|
|
|
NM_001127644.2(GABRA1):c.288C>T (p.Ser96=)
|
|
|
NM_001127644.2(GABRA1):c.28T>C (p.Cys10Arg)
|
rs1217531305
|
|
NM_001127644.2(GABRA1):c.296A>G (p.Asp99Gly)
|
rs1754197638
|
|
NM_001127644.2(GABRA1):c.303G>A (p.Arg101=)
|
rs758360317
|
|
NM_001127644.2(GABRA1):c.312T>G (p.Phe104Leu)
|
rs2113381036
|
|
NM_001127644.2(GABRA1):c.320C>A (p.Pro107His)
|
|
|
NM_001127644.2(GABRA1):c.320C>T (p.Pro107Leu)
|
|
|
NM_001127644.2(GABRA1):c.321T>A (p.Pro107=)
|
rs932397983
|
|
NM_001127644.2(GABRA1):c.322A>G (p.Met108Val)
|
rs2113381084
|
|
NM_001127644.2(GABRA1):c.326C>T (p.Thr109Ile)
|
rs2113381099
|
|
NM_001127644.2(GABRA1):c.332T>C (p.Leu111Pro)
|
|
|
NM_001127644.2(GABRA1):c.333C>A (p.Leu111=)
|
|
|
NM_001127644.2(GABRA1):c.334C>T (p.Arg112Trp)
|
rs1754199170
|
|
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln)
|
rs587777308
|
|
NM_001127644.2(GABRA1):c.335G>T (p.Arg112Leu)
|
|
|
NM_001127644.2(GABRA1):c.346C>T (p.Leu116=)
|
rs1048661957
|
|
NM_001127644.2(GABRA1):c.348A>G (p.Leu116=)
|
rs1233872919
|
|
NM_001127644.2(GABRA1):c.35G>T (p.Trp12Leu)
|
|
|
NM_001127644.2(GABRA1):c.365G>A (p.Trp122Ter)
|
|
|
NM_001127644.2(GABRA1):c.371C>T (p.Pro124Leu)
|
|
|
NM_001127644.2(GABRA1):c.374A>G (p.Asp125Gly)
|
rs2113381253
|
|
NM_001127644.2(GABRA1):c.379T>G (p.Phe127Val)
|
|
|
NM_001127644.2(GABRA1):c.37G>A (p.Ala13Thr)
|
|
|
NM_001127644.2(GABRA1):c.396G>A (p.Lys132=)
|
|
|
NM_001127644.2(GABRA1):c.39C>G (p.Ala13=)
|
rs1581175017
|
|
NM_001127644.2(GABRA1):c.413A>G (p.Asn138Ser)
|
|
|
NM_001127644.2(GABRA1):c.419C>A (p.Thr140Asn)
|
|
|
NM_001127644.2(GABRA1):c.429C>A (p.Asn143Lys)
|
|
|
NM_001127644.2(GABRA1):c.429C>T (p.Asn143=)
|
|
|
NM_001127644.2(GABRA1):c.42G>T (p.Trp14Cys)
|
|
|
NM_001127644.2(GABRA1):c.430A>G (p.Lys144Glu)
|
rs2113381483
|
|
NM_001127644.2(GABRA1):c.435C>G (p.Leu145=)
|
|
|
NM_001127644.2(GABRA1):c.439C>A (p.Arg147=)
|
|
|
NM_001127644.2(GABRA1):c.439C>G (p.Arg147Gly)
|
|
|
NM_001127644.2(GABRA1):c.439C>T (p.Arg147Trp)
|
rs139163545
|
|
NM_001127644.2(GABRA1):c.440G>A (p.Arg147Gln)
|
rs1376907797
|
|
NM_001127644.2(GABRA1):c.453T>C (p.Asp151=)
|
rs1308271547
|
|
NM_001127644.2(GABRA1):c.463C>T (p.Leu155=)
|
|
|
NM_001127644.2(GABRA1):c.474G>A (p.Met158Ile)
|
rs1754206052
|
|
NM_001127644.2(GABRA1):c.476+14C>T
|
rs1180737693
|
|
NM_001127644.2(GABRA1):c.476+19C>T
|
rs1057522828
|
|
NM_001127644.2(GABRA1):c.476+2T>A
|
rs2113381723
|
|
NM_001127644.2(GABRA1):c.477-14_477-13del
|
|
|
NM_001127644.2(GABRA1):c.477-7C>T
|
|
|
NM_001127644.2(GABRA1):c.481A>G (p.Thr161Ala)
|
|
|
NM_001127644.2(GABRA1):c.485T>G (p.Val162Gly)
|
rs1554085822
|
|
NM_001127644.2(GABRA1):c.48C>T (p.Leu16=)
|
rs1554083720
|
|
NM_001127644.2(GABRA1):c.498T>G (p.Cys166Trp)
|
rs1437350481
|
|
NM_001127644.2(GABRA1):c.513G>A (p.Glu171=)
|
|
|
NM_001127644.2(GABRA1):c.522T>A (p.Pro174=)
|
|
|
NM_001127644.2(GABRA1):c.534T>G (p.His178Gln)
|
rs1754314083
|
|
NM_001127644.2(GABRA1):c.537T>C (p.Ala179=)
|
rs945438671
|
|
NM_001127644.2(GABRA1):c.554G>T (p.Gly185Val)
|
rs2113389243
|
|
NM_001127644.2(GABRA1):c.559+15A>G
|
|
|
NM_001127644.2(GABRA1):c.559+16T>C
|
|
|
NM_001127644.2(GABRA1):c.559+18G>A
|
|
|
NM_001127644.2(GABRA1):c.559+19A>G
|
rs1554085838
|
|
NM_001127644.2(GABRA1):c.559+20C>T
|
rs2113389380
|
|
NM_001127644.2(GABRA1):c.559T>G (p.Tyr187Asp)
|
rs2113389254
|
|
NM_001127644.2(GABRA1):c.560-12G>C
|
|
|
NM_001127644.2(GABRA1):c.560-13T>C
|
rs2113414291
|
|
NM_001127644.2(GABRA1):c.560-95_598del
|
|
|
NM_001127644.2(GABRA1):c.560-9T>C
|
rs1581207011
|
|
NM_001127644.2(GABRA1):c.560-9del
|
rs1230461981
|
|
NM_001127644.2(GABRA1):c.560A>G (p.Tyr187Cys)
|
|
|
NM_001127644.2(GABRA1):c.560A>T (p.Tyr187Phe)
|
rs1388847957
|
|
NM_001127644.2(GABRA1):c.563C>A (p.Ala188Asp)
|
|
|
NM_001127644.2(GABRA1):c.565T>C (p.Tyr189His)
|
|
|
NM_001127644.2(GABRA1):c.576A>G (p.Ala192=)
|
rs1319609279
|
|
NM_001127644.2(GABRA1):c.576A>T (p.Ala192=)
|
|
|
NM_001127644.2(GABRA1):c.596C>G (p.Thr199Ser)
|
|
|
NM_001127644.2(GABRA1):c.5G>A (p.Arg2Lys)
|
rs2113293570
|
|
NM_001127644.2(GABRA1):c.610C>T (p.Arg204Cys)
|
|
|
NM_001127644.2(GABRA1):c.611G>T (p.Arg204Leu)
|
|
|
NM_001127644.2(GABRA1):c.612C>G (p.Arg204=)
|
|
|
NM_001127644.2(GABRA1):c.619G>T (p.Val207Phe)
|
rs2113414552
|
|
NM_001127644.2(GABRA1):c.624A>G (p.Val208=)
|
|
|
NM_001127644.2(GABRA1):c.627A>G (p.Ala209=)
|
|
|
NM_001127644.2(GABRA1):c.634G>C (p.Gly212Arg)
|
rs1754664241
|
|
NM_001127644.2(GABRA1):c.637T>A (p.Ser213Thr)
|
rs1581207094
|
|
NM_001127644.2(GABRA1):c.638C>T (p.Ser213Leu)
|
rs1754664529
|
|
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys)
|
rs727503940
|
|
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His)
|
rs886039373
|
|
NM_001127644.2(GABRA1):c.649C>A (p.Gln217Lys)
|
rs1554086437
|
|
NM_001127644.2(GABRA1):c.651G>A (p.Gln217=)
|
|
|
NM_001127644.2(GABRA1):c.653A>C (p.Tyr218Ser)
|
rs1754665353
|
|
NM_001127644.2(GABRA1):c.655G>A (p.Asp219Asn)
|
rs587777364
|
|
NM_001127644.2(GABRA1):c.67G>A (p.Gly23Arg)
|
|
|
NM_001127644.2(GABRA1):c.702A>G (p.Thr234=)
|
rs1392262946
|
|
NM_001127644.2(GABRA1):c.703+18A>G
|
|
|
NM_001127644.2(GABRA1):c.703+5G>A
|
rs1754668246
|
|
NM_001127644.2(GABRA1):c.703+8C>A
|
rs376693195
|
|
NM_001127644.2(GABRA1):c.703+8C>T
|
rs376693195
|
|
NM_001127644.2(GABRA1):c.703+9G>A
|
|
|
NM_001127644.2(GABRA1):c.708A>G (p.Glu236=)
|
|
|
NM_001127644.2(GABRA1):c.723C>A (p.Thr241=)
|
rs2113446356
|
|
NM_001127644.2(GABRA1):c.725C>T (p.Thr242Ile)
|
rs759786297
|
|
NM_001127644.2(GABRA1):c.729T>C (p.His243=)
|
rs772218052
|
|
NM_001127644.2(GABRA1):c.732C>T (p.Phe244=)
|
rs1581215256
|
|
NM_001127644.2(GABRA1):c.74+10C>T
|
rs557887445
|
|
NM_001127644.2(GABRA1):c.74+13T>A
|
|
|
NM_001127644.2(GABRA1):c.74+16T>A
|
|
|
NM_001127644.2(GABRA1):c.74+16del
|
|
|
NM_001127644.2(GABRA1):c.74+3_74+4delinsAT
|
rs1757418856
|
|
NM_001127644.2(GABRA1):c.74+5G>A
|
|
|
NM_001127644.2(GABRA1):c.74+6G>A
|
rs754431874
|
|
NM_001127644.2(GABRA1):c.74+9A>C
|
|
|
NM_001127644.2(GABRA1):c.74+9A>T
|
rs41275339
|
|
NM_001127644.2(GABRA1):c.75-11T>C
|
|
|
NM_001127644.2(GABRA1):c.75-13T>C
|
|
|
NM_001127644.2(GABRA1):c.75-14_75-13del
|
|
|
NM_001127644.2(GABRA1):c.75-17T>G
|
|
|
NM_001127644.2(GABRA1):c.75-18C>G
|
|
|
NM_001127644.2(GABRA1):c.75-4dup
|
rs563768487
|
|
NM_001127644.2(GABRA1):c.75-7T>C
|
|
|
NM_001127644.2(GABRA1):c.75-8T>G
|
|
|
NM_001127644.2(GABRA1):c.751G>A (p.Gly251Ser)
|
rs587777307
|
|
NM_001127644.2(GABRA1):c.753C>T (p.Gly251=)
|
rs2113446431
|
|
NM_001127644.2(GABRA1):c.755A>G (p.Tyr252Cys)
|
rs2113446442
|
|
NM_001127644.2(GABRA1):c.768A>G (p.Gln256=)
|
|
|
NM_001127644.2(GABRA1):c.770C>T (p.Thr257Ile)
|
rs1755061866
|
|
NM_001127644.2(GABRA1):c.775C>T (p.Leu259=)
|
|
|
NM_001127644.2(GABRA1):c.785_786dup (p.Met263Ter)
|
|
|
NM_001127644.2(GABRA1):c.787A>T (p.Met263Leu)
|
rs1561584736
|
|
NM_001127644.2(GABRA1):c.788T>C (p.Met263Thr)
|
rs796052491
|
|
NM_001127644.2(GABRA1):c.790A>G (p.Thr264Ala)
|
|
|
NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile)
|
rs796052492
|
|
NM_001127644.2(GABRA1):c.799C>T (p.Leu267Phe)
|
rs796052492
|
|
NM_001127644.2(GABRA1):c.79G>A (p.Gly27Arg)
|
|
|
NM_001127644.2(GABRA1):c.809T>G (p.Val270Gly)
|
rs1755063375
|
|
NM_001127644.2(GABRA1):c.80G>A (p.Gly27Glu)
|
rs866861998
|
|
NM_001127644.2(GABRA1):c.813del (p.Phe272fs)
|
rs2113446665
|
|
NM_001127644.2(GABRA1):c.817T>C (p.Trp273Arg)
|
|
|
NM_001127644.2(GABRA1):c.824A>G (p.Asn275Ser)
|
rs1755063824
|
|
NM_001127644.2(GABRA1):c.825C>A (p.Asn275Lys)
|
rs1755063970
|
|
NM_001127644.2(GABRA1):c.828A>C (p.Arg276Ser)
|
|
|
NM_001127644.2(GABRA1):c.830A>G (p.Glu277Gly)
|
|
|
NM_001127644.2(GABRA1):c.831G>T (p.Glu277Asp)
|
rs764666718
|
|
NM_001127644.2(GABRA1):c.833C>A (p.Ser278Tyr)
|
|
|
NM_001127644.2(GABRA1):c.833C>T (p.Ser278Phe)
|
|
|
NM_001127644.2(GABRA1):c.834T>G (p.Ser278=)
|
rs749956729
|
|
NM_001127644.2(GABRA1):c.839C>A (p.Pro280Gln)
|
|
|
NM_001127644.2(GABRA1):c.84G>T (p.Gln28His)
|
|
|
NM_001127644.2(GABRA1):c.850G>C (p.Val284Leu)
|
rs1755065243
|
|
NM_001127644.2(GABRA1):c.856+8C>T
|
rs1554087151
|
|
NM_001127644.2(GABRA1):c.857-10T>A
|
rs2113464132
|
|
NM_001127644.2(GABRA1):c.857-18T>A
|
rs78782356
|
|
NM_001127644.2(GABRA1):c.857-19_857-18delinsCC
|
|
|
NM_001127644.2(GABRA1):c.857-20del
|
|
|
NM_001127644.2(GABRA1):c.857-2A>G
|
rs1313965409
|
|
NM_001127644.2(GABRA1):c.857-8C>T
|
rs752572964
|
|
NM_001127644.2(GABRA1):c.857-9del
|
rs3214859
|
|
NM_001127644.2(GABRA1):c.857-9dup
|
rs3214859
|
|
NM_001127644.2(GABRA1):c.859G>A (p.Val287Ile)
|
rs796052493
|
|
NM_001127644.2(GABRA1):c.85C>A (p.Pro29Thr)
|
|
|
NM_001127644.2(GABRA1):c.863C>T (p.Thr288Ile)
|
rs1755330256
|
|
NM_001127644.2(GABRA1):c.865A>G (p.Thr289Ala)
|
rs189199636
|
|
NM_001127644.2(GABRA1):c.867T>A (p.Thr289=)
|
|
|
NM_001127644.2(GABRA1):c.869_888del (p.Val290fs)
|
rs1561587715
|
|
NM_001127644.2(GABRA1):c.875C>T (p.Thr292Ile)
|
|
|
NM_001127644.2(GABRA1):c.881C>G (p.Thr294Arg)
|
rs796052495
|
|
NM_001127644.2(GABRA1):c.884C>T (p.Thr295Ile)
|
rs796052496
|
|
NM_001127644.2(GABRA1):c.897T>G (p.Ser299Arg)
|
rs1581220163
|
|
NM_001127644.2(GABRA1):c.906C>T (p.Asn302=)
|
|
|
NM_001127644.2(GABRA1):c.914C>T (p.Pro305Leu)
|
rs1755333582
|
|
NM_001127644.2(GABRA1):c.920T>C (p.Val307Ala)
|
rs1581220195
|
|
NM_001127644.2(GABRA1):c.923C>A (p.Ala308Asp)
|
rs1554087620
|
|
NM_001127644.2(GABRA1):c.927T>C (p.Tyr309=)
|
|
|
NM_001127644.2(GABRA1):c.932C>T (p.Thr311Ile)
|
rs1581220210
|
|
NM_001127644.2(GABRA1):c.94C>T (p.Gln32Ter)
|
rs769743354
|
|
NM_001127644.2(GABRA1):c.950T>C (p.Ile317Thr)
|
rs1755335825
|
|
NM_001127644.2(GABRA1):c.955G>A (p.Val319Met)
|
rs2113464702
|
|
NM_001127644.2(GABRA1):c.962A>G (p.Tyr321Cys)
|
rs1755336507
|
|
NM_001127644.2(GABRA1):c.965C>A (p.Ala322Asp)
|
rs121434579
|
|
NM_001127644.2(GABRA1):c.975C>A (p.Phe325Leu)
|
rs2113464798
|
|
NM_001127644.2(GABRA1):c.975del (p.Ser326fs)
|
rs1581220270
|
|
NM_001127644.2(GABRA1):c.978A>G (p.Ser326=)
|
|
|
NM_001127644.2(GABRA1):c.978_982del (p.Ala327fs)
|
|
|
NM_001127644.2(GABRA1):c.97G>A (p.Asp33Asn)
|
|
|
NM_001127644.2(GABRA1):c.983T>C (p.Leu328Pro)
|
|
|
NM_001127644.2(GABRA1):c.998C>T (p.Thr333Ile)
|
rs2113464870
|
|
NM_001127644.2(GABRA1):c.999A>T (p.Thr333=)
|
|
|
NM_004366.6(CLCN2):c.1550C>T (p.Thr517Met)
|
rs1458831101
|
|
NM_004366.6(CLCN2):c.1690T>C (p.Tyr564His)
|
rs1728346222
|
|
NM_004366.6(CLCN2):c.1721+5G>A
|
|
|
NM_004366.6(CLCN2):c.1856-11G>C
|
rs200595019
|
|
NM_004366.6(CLCN2):c.221-14_221-4del
|
rs515726132
|
|
NM_004366.6(CLCN2):c.2415+4_2415+5dup
|
rs146494980
|
|
NM_004366.6(CLCN2):c.335T>C (p.Ile112Thr)
|
|
|
NM_004366.6(CLCN2):c.415A>C (p.Thr139Pro)
|
rs770392085
|
|
NM_004366.6(CLCN2):c.668_672del (p.Leu223fs)
|
rs756385625
|
|
NM_004366.6(CLCN2):c.964C>T (p.Pro322Ser)
|
rs2108571082
|
|
NM_005898.5(CAPRIN1):c.891_894del (p.Arg297fs)
|
|
|
NM_006922.4(SCN3A):c.1485T>G (p.Ser495Arg)
|
rs2105834282
|
|
NM_018100.3(EFHC1):c.-148_-147GC[1]
|
rs796720054
|
|
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.1197T>C (p.Ala399=)
|
rs886061630
|
|
NM_018100.4(EFHC1):c.1286C>T (p.Pro429Leu)
|
rs1765607722
|
|
NM_018100.4(EFHC1):c.1365T>C (p.Pro455=)
|
rs1581846971
|
|
NM_018100.4(EFHC1):c.165C>G (p.Asn55Lys)
|
rs928396576
|
|
NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp)
|
rs3804506
|
|
NM_018100.4(EFHC1):c.598G>C (p.Glu200Gln)
|
rs767704811
|
|
NM_018100.4(EFHC1):c.666_671del (p.Lys222_Val224delinsAsn)
|
rs886061628
|
|
NM_018100.4(EFHC1):c.723+18_723+19insG
|
rs1581829739
|
|
NM_018100.4(EFHC1):c.800A>G (p.Tyr267Cys)
|
rs886061629
|
|
NM_018896.5(CACNA1G):c.3315C>A (p.Ser1105Arg)
|
rs1216562585
|
|
NM_018896.5(CACNA1G):c.6508T>A (p.Trp2170Arg)
|
|
|