NM_001165963.4(SCN1A):c.-49-34A>T
|
rs566839
|
0.98809
|
NM_001165963.4(SCN1A):c.2589+208A>G
|
rs1019724
|
0.74828
|
NM_001165963.4(SCN1A):c.2416-256C>T
|
rs1019722
|
0.74053
|
NM_001165963.4(SCN1A):c.1171-270G>T
|
rs13421166
|
0.73932
|
NM_001165963.4(SCN1A):c.1029-68C>T
|
rs1461193
|
0.73918
|
NM_001165963.4(SCN1A):c.2416-181A>C
|
rs6432859
|
0.73910
|
NM_001165963.4(SCN1A):c.2043+301C>T
|
rs7574618
|
0.73909
|
NM_001165963.4(SCN1A):c.2044-168A>T
|
rs10167228
|
0.73906
|
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=)
|
rs6432860
|
0.73885
|
NM_001165963.4(SCN1A):c.1663-47T>G
|
rs6753355
|
0.73880
|
NM_001165963.4(SCN1A):c.2947-41C>T
|
rs7601520
|
0.73875
|
NM_001165963.4(SCN1A):c.2946+56A>G
|
rs2020318
|
0.73869
|
NM_001165963.4(SCN1A):c.2590-239A>G
|
rs6719077
|
0.73687
|
NM_001165963.4(SCN1A):c.603-106G>T
|
rs3812719
|
0.67746
|
NM_001165963.4(SCN1A):c.964+258G>A
|
rs6735104
|
0.66191
|
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=)
|
rs7580482
|
0.66162
|
NM_001165963.4(SCN1A):c.1378-266T>A
|
rs992894
|
0.66153
|
NM_001165963.4(SCN1A):c.265-137G>T
|
rs10930201
|
0.66082
|
NM_001165963.4(SCN1A):c.694+258G>A
|
rs1841546
|
0.49844
|
NM_001165963.4(SCN1A):c.694+232_694+233insA
|
rs367905968
|
0.49114
|
NM_001165963.4(SCN1A):c.2589+172T>C
|
rs1019723
|
0.48517
|
NM_001165963.4(SCN1A):c.1377+52G>A
|
rs6432861
|
0.48236
|
NM_001165963.4(SCN1A):c.965-113A>T
|
rs1542483
|
0.48229
|
NM_001165963.4(SCN1A):c.1171-174A>G
|
rs13383628
|
0.48214
|
NM_001165963.4(SCN1A):c.1028+21T>C
|
rs1542484
|
0.48206
|
NM_001165963.4(SCN1A):c.1170+112C>T
|
rs11690959
|
0.48005
|
NM_001165963.4(SCN1A):c.603-242T>C
|
rs2217199
|
0.47972
|
NM_001165963.4(SCN1A):c.473+164G>A
|
rs1461203
|
0.46950
|
NM_001165963.4(SCN1A):c.383+185T>C
|
rs7564306
|
0.46949
|
NM_001165963.4(SCN1A):c.474-310A>G
|
rs1541783
|
0.25870
|
NM_001165963.4(SCN1A):c.1170+75C>A
|
rs11690962
|
0.25866
|
NM_001165963.4(SCN1A):c.2589+114T>C
|
rs10168027
|
0.25833
|
NM_001165963.4(SCN1A):c.2177-38C>A
|
rs10198801
|
0.25381
|
NM_001165963.4(SCN1A):c.965-215T>C
|
rs6432863
|
0.24269
|
NM_001165963.4(SCN1A):c.383+66T>C
|
rs8191987
|
0.18995
|
NM_001165963.4(SCN1A):c.2177-270A>G
|
rs6731591
|
0.18963
|
NM_001165963.4(SCN1A):c.964+116A>T
|
rs6750294
|
0.18177
|
NM_001165963.4(SCN1A):c.964+199T>G
|
rs6706163
|
0.18121
|
NM_001165963.4(SCN1A):c.2590-285A>G
|
rs79990586
|
0.18055
|
NM_001165963.4(SCN1A):c.965-310G>C
|
rs994398
|
0.12911
|
NM_001165963.4(SCN1A):c.694+184G>A
|
rs10497277
|
0.03940
|
NM_001165963.4(SCN1A):c.2176+17A>G
|
rs59251406
|
0.03846
|
NM_001165963.4(SCN1A):c.345T>C (p.Asn115=)
|
rs61741123
|
0.03029
|
NM_001165963.4(SCN1A):c.1663-278C>T
|
rs115015575
|
0.02948
|
NM_001165963.4(SCN1A):c.2043+107G>A
|
rs111489104
|
0.02925
|
NM_001165963.4(SCN1A):c.1029-177C>T
|
rs77256975
|
0.02834
|
NM_001165963.4(SCN1A):c.2946+77A>G
|
rs116647099
|
0.02481
|
NM_001165963.4(SCN1A):c.474-333T>G
|
rs76716692
|
0.02318
|
NM_001165963.4(SCN1A):c.383+335G>A
|
rs79554951
|
0.02047
|
NM_001165963.4(SCN1A):c.474-113T>C
|
rs10930200
|
0.02027
|
NM_001165963.4(SCN1A):c.964+41T>A
|
rs74655577
|
0.01978
|
NM_001165963.4(SCN1A):c.2947-125G>T
|
rs41265139
|
0.00989
|
NM_001165963.4(SCN1A):c.964+185T>A
|
rs73022800
|
0.00872
|
NM_001165963.4(SCN1A):c.384-20G>C
|
rs192956852
|
0.00635
|
NM_001165963.4(SCN1A):c.2590-227A>G
|
rs142984238
|
0.00619
|
NM_001165963.4(SCN1A):c.2177-10C>T
|
rs199507113
|
0.00579
|
NM_001165963.4(SCN1A):c.265-226T>C
|
rs141977446
|
0.00447
|
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=)
|
rs114137271
|
0.00322
|
NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=)
|
rs144679294
|
0.00321
|
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln)
|
rs121918817
|
0.00154
|
NM_001165963.4(SCN1A):c.68C>T (p.Ala23Val)
|
rs139397227
|
0.00138
|
NM_001165963.4(SCN1A):c.2176+44C>T
|
rs75022359
|
0.00113
|
NM_001165963.4(SCN1A):c.1029-47A>G
|
rs201418120
|
0.00096
|
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His)
|
rs121918769
|
0.00087
|
NM_001165963.4(SCN1A):c.2421C>T (p.Phe807=)
|
rs145101180
|
0.00062
|
NM_001165963.4(SCN1A):c.1171-25A>G
|
rs199556404
|
0.00053
|
NM_001165963.4(SCN1A):c.2415+38A>G
|
rs367846035
|
0.00032
|
NM_001165963.4(SCN1A):c.1000C>G (p.Leu334Val)
|
rs201870762
|
0.00030
|
NM_001165963.4(SCN1A):c.384-21T>A
|
rs373168416
|
0.00026
|
NM_001165963.4(SCN1A):c.694+10A>G
|
rs373417440
|
0.00019
|
NM_001165963.4(SCN1A):c.1710C>T (p.Ser570=)
|
rs770432127
|
0.00018
|
NM_001165963.4(SCN1A):c.2177-43G>A
|
rs767120609
|
0.00018
|
NM_001165963.4(SCN1A):c.1378-3T>C
|
rs150964803
|
0.00016
|
NM_001165963.4(SCN1A):c.1797G>A (p.Glu599=)
|
rs145035963
|
0.00016
|
NM_001165963.4(SCN1A):c.1889G>A (p.Arg630Gln)
|
rs145670933
|
0.00016
|
NM_001165963.4(SCN1A):c.1410C>T (p.Ser470=)
|
rs142571794
|
0.00015
|
NM_001165963.4(SCN1A):c.1790C>A (p.Thr597Asn)
|
rs149715258
|
0.00014
|
NM_001165963.4(SCN1A):c.2770G>A (p.Ala924Thr)
|
rs141950573
|
0.00014
|
NM_001165963.4(SCN1A):c.579C>T (p.Leu193=)
|
rs116478064
|
0.00014
|
NM_001165963.4(SCN1A):c.1080T>C (p.Tyr360=)
|
rs371270088
|
0.00013
|
NM_001165963.4(SCN1A):c.1680T>C (p.Arg560=)
|
rs145662732
|
0.00011
|
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln)
|
rs544692790
|
0.00011
|
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp)
|
rs148442069
|
0.00011
|
NM_001165963.4(SCN1A):c.2811C>T (p.Phe937=)
|
rs558678383
|
0.00010
|
NM_001165963.4(SCN1A):c.597A>G (p.Thr199=)
|
rs398123600
|
0.00010
|
NM_001165963.4(SCN1A):c.1814G>C (p.Arg605Thr)
|
rs374501252
|
0.00009
|
NM_001165963.4(SCN1A):c.1624C>A (p.Arg542=)
|
rs138877187
|
0.00008
|
NM_001165963.4(SCN1A):c.2946+19T>C
|
rs180873219
|
0.00008
|
NM_001165963.4(SCN1A):c.1810C>T (p.Arg604Cys)
|
rs148371904
|
0.00007
|
NM_001165963.4(SCN1A):c.1028+35T>C
|
rs148126815
|
0.00006
|
NM_001165963.4(SCN1A):c.1582A>T (p.Ser528Cys)
|
rs372372558
|
0.00006
|
NM_001165963.4(SCN1A):c.1803C>T (p.Asn601=)
|
rs139403702
|
0.00006
|
NM_001165963.4(SCN1A):c.2177-29G>C
|
rs763828472
|
0.00006
|
NM_001165963.4(SCN1A):c.333A>G (p.Leu111=)
|
rs201592683
|
0.00006
|
NM_001165963.4(SCN1A):c.80G>C (p.Arg27Thr)
|
rs121917906
|
0.00006
|
NM_001165963.4(SCN1A):c.1343T>C (p.Ile448Thr)
|
rs755962326
|
0.00005
|
NM_001165963.4(SCN1A):c.1440A>C (p.Ser480=)
|
rs201383347
|
0.00005
|
NM_001165963.4(SCN1A):c.1499G>A (p.Arg500Gln)
|
rs200176684
|
0.00005
|
NM_001165963.4(SCN1A):c.2057A>C (p.Glu686Ala)
|
rs374767754
|
0.00005
|
NM_001165963.4(SCN1A):c.2094C>T (p.His698=)
|
rs372260058
|
0.00005
|
NM_001165963.4(SCN1A):c.3060C>A (p.His1020Gln)
|
rs150154265
|
0.00005
|
NM_001165963.4(SCN1A):c.1604G>A (p.Arg535His)
|
rs184524479
|
0.00004
|
NM_001165963.4(SCN1A):c.2926A>C (p.Met976Leu)
|
rs773681556
|
0.00004
|
NM_001165963.4(SCN1A):c.2947-12G>A
|
rs371041932
|
0.00004
|
NM_001165963.4(SCN1A):c.429G>A (p.Val143=)
|
rs1050330603
|
0.00004
|
NM_001165963.4(SCN1A):c.875T>C (p.Ile292Thr)
|
rs766503699
|
0.00004
|
NM_001165963.4(SCN1A):c.1029-11C>G
|
rs561758475
|
0.00003
|
NM_001165963.4(SCN1A):c.1220T>C (p.Ile407Thr)
|
rs398123581
|
0.00003
|
NM_001165963.4(SCN1A):c.136G>A (p.Glu46Lys)
|
rs769582667
|
0.00003
|
NM_001165963.4(SCN1A):c.1388C>T (p.Thr463Met)
|
rs752591998
|
0.00003
|
NM_001165963.4(SCN1A):c.144C>T (p.Gly48=)
|
rs886043534
|
0.00003
|
NM_001165963.4(SCN1A):c.2201G>A (p.Cys734Tyr)
|
rs1247949520
|
0.00003
|
NM_001165963.4(SCN1A):c.3039A>G (p.Gln1013=)
|
rs780391343
|
0.00003
|
NM_001165963.4(SCN1A):c.638C>T (p.Ser213Leu)
|
rs754661378
|
0.00003
|
NM_001165963.4(SCN1A):c.791T>C (p.Ile264Thr)
|
rs745664511
|
0.00003
|
NM_001165963.4(SCN1A):c.854C>T (p.Ala285Val)
|
rs755598644
|
0.00003
|
NM_001165963.4(SCN1A):c.859T>G (p.Leu287Val)
|
rs138357595
|
0.00003
|
NM_001165963.4(SCN1A):c.890C>T (p.Thr297Ile)
|
rs121918771
|
0.00003
|
NM_001165963.4(SCN1A):c.1641G>T (p.Lys547Asn)
|
rs550770894
|
0.00002
|
NM_001165963.4(SCN1A):c.1652C>T (p.Ser551Phe)
|
rs1396476288
|
0.00002
|
NM_001165963.4(SCN1A):c.1882T>A (p.Ser628Thr)
|
rs752639991
|
0.00002
|
NM_001165963.4(SCN1A):c.1980T>G (p.Pro660=)
|
rs1379958414
|
0.00002
|
NM_001165963.4(SCN1A):c.1988C>T (p.Pro663Leu)
|
rs370481828
|
0.00002
|
NM_001165963.4(SCN1A):c.2007A>G (p.Pro669=)
|
rs993370830
|
0.00002
|
NM_001165963.4(SCN1A):c.2078G>T (p.Arg693Met)
|
rs750260160
|
0.00002
|
NM_001165963.4(SCN1A):c.2085T>G (p.Ser695Arg)
|
rs764865083
|
0.00002
|
NM_001165963.4(SCN1A):c.2378C>T (p.Thr793Met)
|
rs762038032
|
0.00002
|
NM_001165963.4(SCN1A):c.2552A>G (p.Asn851Ser)
|
rs561912072
|
0.00002
|
NM_001165963.4(SCN1A):c.2577T>C (p.Arg859=)
|
rs569598595
|
0.00002
|
NM_001165963.4(SCN1A):c.2715C>T (p.Ala905=)
|
rs778280690
|
0.00002
|
NM_001165963.4(SCN1A):c.2716G>A (p.Val906Met)
|
rs185760342
|
0.00002
|
NM_001165963.4(SCN1A):c.2838C>T (p.Arg946=)
|
rs764174474
|
0.00002
|
NM_001165963.4(SCN1A):c.2947-7T>G
|
rs913084871
|
0.00002
|
NM_001165963.4(SCN1A):c.3044C>T (p.Ala1015Val)
|
rs772487501
|
0.00002
|
NM_001165963.4(SCN1A):c.384-9A>G
|
rs371926865
|
0.00002
|
NM_001165963.4(SCN1A):c.670T>C (p.Leu224=)
|
rs764891727
|
0.00002
|
NM_001165963.4(SCN1A):c.765G>A (p.Val255=)
|
rs377331238
|
0.00002
|
NM_001165963.4(SCN1A):c.777C>T (p.Ser259=)
|
rs121918735
|
0.00002
|
NM_001165963.4(SCN1A):c.972T>C (p.His324=)
|
rs886042203
|
0.00002
|
NM_001165963.4(SCN1A):c.1029-12C>T
|
rs772513720
|
0.00001
|
NM_001165963.4(SCN1A):c.1193C>T (p.Thr398Met)
|
rs774937055
|
0.00001
|
NM_001165963.4(SCN1A):c.1194G>A (p.Thr398=)
|
rs753890879
|
0.00001
|
NM_001165963.4(SCN1A):c.1225T>C (p.Leu409=)
|
rs770033555
|
0.00001
|
NM_001165963.4(SCN1A):c.1327G>A (p.Glu443Lys)
|
rs1300925640
|
0.00001
|
NM_001165963.4(SCN1A):c.1360C>A (p.Gln454Lys)
|
rs1465196014
|
0.00001
|
NM_001165963.4(SCN1A):c.1396G>A (p.Ala466Thr)
|
rs762652516
|
0.00001
|
NM_001165963.4(SCN1A):c.1485G>T (p.Lys495Asn)
|
rs201362569
|
0.00001
|
NM_001165963.4(SCN1A):c.1498C>T (p.Arg500Trp)
|
rs141188608
|
0.00001
|
NM_001165963.4(SCN1A):c.1546G>A (p.Asp516Asn)
|
rs757923791
|
0.00001
|
NM_001165963.4(SCN1A):c.1603C>T (p.Arg535Cys)
|
rs761062389
|
0.00001
|
NM_001165963.4(SCN1A):c.1678C>T (p.Arg560Cys)
|
rs768764142
|
0.00001
|
NM_001165963.4(SCN1A):c.1679G>A (p.Arg560His)
|
rs746769373
|
0.00001
|
NM_001165963.4(SCN1A):c.1696C>T (p.Pro566Ser)
|
rs886044645
|
0.00001
|
NM_001165963.4(SCN1A):c.1703G>A (p.Arg568Gln)
|
rs794727025
|
0.00001
|
NM_001165963.4(SCN1A):c.1706A>G (p.Asn569Ser)
|
rs796052978
|
0.00001
|
NM_001165963.4(SCN1A):c.1753G>C (p.Gly585Arg)
|
rs753050564
|
0.00001
|
NM_001165963.4(SCN1A):c.1818T>C (p.Asp606=)
|
rs727504141
|
0.00001
|
NM_001165963.4(SCN1A):c.1842C>T (p.His614=)
|
rs370463183
|
0.00001
|
NM_001165963.4(SCN1A):c.1852C>T (p.Arg618Cys)
|
rs750516202
|
0.00001
|
NM_001165963.4(SCN1A):c.1891A>G (p.Met631Val)
|
rs1336507340
|
0.00001
|
NM_001165963.4(SCN1A):c.1895T>A (p.Leu632Gln)
|
rs201987598
|
0.00001
|
NM_001165963.4(SCN1A):c.1905T>G (p.Phe635Leu)
|
rs1489623233
|
0.00001
|
NM_001165963.4(SCN1A):c.1910C>T (p.Ala637Val)
|
rs1266240114
|
0.00001
|
NM_001165963.4(SCN1A):c.1928G>A (p.Ser643Asn)
|
rs369178649
|
0.00001
|
NM_001165963.4(SCN1A):c.2006C>T (p.Pro669Leu)
|
rs570326929
|
0.00001
|
NM_001165963.4(SCN1A):c.2018T>C (p.Ile673Thr)
|
rs1315723631
|
0.00001
|
NM_001165963.4(SCN1A):c.201C>T (p.Asp67=)
|
rs1331936581
|
0.00001
|
NM_001165963.4(SCN1A):c.203T>C (p.Ile68Thr)
|
rs758871507
|
0.00001
|
NM_001165963.4(SCN1A):c.2135G>A (p.Arg712Gln)
|
rs138799232
|
0.00001
|
NM_001165963.4(SCN1A):c.2229C>G (p.Asn743Lys)
|
rs745738437
|
0.00001
|
NM_001165963.4(SCN1A):c.2236T>C (p.Leu746=)
|
rs753714341
|
0.00001
|
NM_001165963.4(SCN1A):c.2240T>C (p.Ile747Thr)
|
rs980156920
|
0.00001
|
NM_001165963.4(SCN1A):c.228C>G (p.Pro76=)
|
rs1173774565
|
0.00001
|
NM_001165963.4(SCN1A):c.2294T>C (p.Val765Ala)
|
rs1302724105
|
0.00001
|
NM_001165963.4(SCN1A):c.2474A>C (p.Tyr825Ser)
|
rs780963881
|
0.00001
|
NM_001165963.4(SCN1A):c.2486A>T (p.Gln829Leu)
|
rs1299251889
|
0.00001
|
NM_001165963.4(SCN1A):c.2509G>A (p.Gly837Ser)
|
rs779561135
|
0.00001
|
NM_001165963.4(SCN1A):c.2520G>T (p.Val840=)
|
rs757851017
|
0.00001
|
NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His)
|
rs398123588
|
0.00001
|
NM_001165963.4(SCN1A):c.2584C>A (p.Arg862=)
|
rs397514459
|
0.00001
|
NM_001165963.4(SCN1A):c.264A>C (p.Lys88Asn)
|
rs1025532519
|
0.00001
|
NM_001165963.4(SCN1A):c.2659G>A (p.Val887Met)
|
rs368663649
|
0.00001
|
NM_001165963.4(SCN1A):c.2686G>A (p.Val896Ile)
|
rs745378416
|
0.00001
|
NM_001165963.4(SCN1A):c.2701G>A (p.Val901Ile)
|
rs12617205
|
0.00001
|
NM_001165963.4(SCN1A):c.2721C>T (p.Val907=)
|
rs748504238
|
0.00001
|
NM_001165963.4(SCN1A):c.2898C>T (p.Ala966=)
|
rs774054004
|
0.00001
|
NM_001165963.4(SCN1A):c.2911G>A (p.Val971Ile)
|
rs748816300
|
0.00001
|
NM_001165963.4(SCN1A):c.3018T>G (p.Asp1006Glu)
|
rs375909896
|
0.00001
|
NM_001165963.4(SCN1A):c.3053G>A (p.Arg1018Lys)
|
rs745930061
|
0.00001
|
NM_001165963.4(SCN1A):c.3074A>T (p.Tyr1025Phe)
|
rs752532497
|
0.00001
|
NM_001165963.4(SCN1A):c.32C>A (p.Pro11His)
|
rs1350460260
|
0.00001
|
NM_001165963.4(SCN1A):c.413T>G (p.Ile138Ser)
|
rs1553552390
|
0.00001
|
NM_001165963.4(SCN1A):c.418A>G (p.Thr140Ala)
|
rs796052956
|
0.00001
|
NM_001165963.4(SCN1A):c.558T>C (p.Leu186=)
|
rs539168834
|
0.00001
|
NM_001165963.4(SCN1A):c.559C>T (p.Arg187Trp)
|
rs1419611654
|
0.00001
|
NM_001165963.4(SCN1A):c.560G>A (p.Arg187Gln)
|
rs777631884
|
0.00001
|
NM_001165963.4(SCN1A):c.606C>T (p.Tyr202=)
|
rs374555589
|
0.00001
|
NM_001165963.4(SCN1A):c.607G>A (p.Val203Ile)
|
rs569880910
|
0.00001
|
NM_001165963.4(SCN1A):c.643T>C (p.Leu215=)
|
rs779837260
|
0.00001
|
NM_001165963.4(SCN1A):c.652T>C (p.Phe218Leu)
|
rs970867558
|
0.00001
|
NM_001165963.4(SCN1A):c.661C>G (p.Leu221Val)
|
rs886039456
|
0.00001
|
NM_001165963.4(SCN1A):c.678G>A (p.Thr226=)
|
rs571355844
|
0.00001
|
NM_001165963.4(SCN1A):c.694+9A>G
|
rs754260524
|
0.00001
|
NM_001165963.4(SCN1A):c.821G>A (p.Arg274Lys)
|
rs1285055471
|
0.00001
|
NM_001165963.4(SCN1A):c.82C>T (p.Arg28Cys)
|
rs754032480
|
0.00001
|
NM_001165963.4(SCN1A):c.83G>A (p.Arg28His)
|
rs398123601
|
0.00001
|
NM_001165963.4(SCN1A):c.846C>A (p.Pro282=)
|
rs1352832546
|
0.00001
|
NM_001165963.4(SCN1A):c.879A>C (p.Glu293Asp)
|
rs1457806589
|
0.00001
|
NM_001165963.4(SCN1A):c.90A>G (p.Ala30=)
|
rs750748658
|
0.00001
|
GRCh37/hg19 2q24.3(chr2:166821406-166911866)x3
|
|
|
GRCh37/hg19 2q24.3(chr2:166821406-166939893)x3
|
|
|
GRCh37/hg19 2q24.3(chr2:166844240-166879265)x3
|
|
|
GRCh37/hg19 2q24.3(chr2:166844240-166914593)x3
|
|
|
GRCh37/hg19 2q24.3(chr2:166844240-166939277)x3
|
|
|
GRCh37/hg19 2q24.3(chr2:166845794-166917408)x3
|
|
|
GRCh37/hg19 2q24.3(chr2:166845794-166940301)x3
|
|
|
GRCh37/hg19 2q24.3(chr2:166849203-166924472)x3
|
|
|
GRCh37/hg19 2q24.3(chr2:166849955-166866307)x1
|
|
|
GRCh37/hg19 2q24.3(chr2:166851429-166869198)x3
|
|
|
GRCh37/hg19 2q24.3(chr2:166851429-166869446)x3
|
|
|
GRCh37/hg19 2q24.3(chr2:166851429-166882828)x3
|
|
|
GRCh37/hg19 2q24.3(chr2:166851429-166939893)x3
|
|
|
GRCh37/hg19 2q24.3(chr2:166851429-166940301)x3
|
|
|
GRCh37/hg19 2q24.3(chr2:166854158-166866307)x1
|
|
|
GRCh37/hg19 2q24.3(chr2:166854158-166869198)x3
|
|
|
GRCh37/hg19 2q24.3(chr2:166854158-166879265)x1
|
|
|
GRCh37/hg19 2q24.3(chr2:166899878-166920402)x1
|
|
|
GRCh37/hg19 2q24.3(chr2:166905375-166909104)x4
|
|
|
GRCh37/hg19 2q24.3(chr2:166905572-166911685)x3
|
|
|
GRCh37/hg19 2q24.3(chr2:166915080-166915198)x1
|
|
|
GRCh37/hg19 2q24.3(chr2:166999968-167000966)x1
|
|
|
NM_001165963.4(SCN1A):c.1006T>G (p.Cys336Gly)
|
rs398123578
|
|
NM_001165963.4(SCN1A):c.1024G>T (p.Ala342Ser)
|
rs794726843
|
|
NM_001165963.4(SCN1A):c.1027G>A (p.Gly343Ser)
|
rs1553548063
|
|
NM_001165963.4(SCN1A):c.1028+112C>A
|
rs77450394
|
|
NM_001165963.4(SCN1A):c.1028+1del
|
rs886041980
|
|
NM_001165963.4(SCN1A):c.1028+5G>C
|
rs1553548057
|
|
NM_001165963.4(SCN1A):c.1029-1G>C
|
rs398123579
|
|
NM_001165963.4(SCN1A):c.1034G>A (p.Cys345Tyr)
|
rs1057518243
|
|
NM_001165963.4(SCN1A):c.1034G>T (p.Cys345Phe)
|
rs1057518243
|
|
NM_001165963.4(SCN1A):c.1053dup (p.Val352fs)
|
rs796053106
|
|
NM_001165963.4(SCN1A):c.1066A>G (p.Arg356Gly)
|
rs121917920
|
|
NM_001165963.4(SCN1A):c.1069A>T (p.Asn357Tyr)
|
rs1057524752
|
|
NM_001165963.4(SCN1A):c.1072C>A (p.Pro358Thr)
|
rs121917923
|
|
NM_001165963.4(SCN1A):c.1076A>G (p.Asn359Ser)
|
rs794726713
|
|
NM_001165963.4(SCN1A):c.1076A>T (p.Asn359Ile)
|
rs794726713
|
|
NM_001165963.4(SCN1A):c.1087A>C (p.Thr363Pro)
|
rs1131691465
|
|
NM_001165963.4(SCN1A):c.1090A>C (p.Ser364Arg)
|
rs1057518094
|
|
NM_001165963.4(SCN1A):c.1091G>T (p.Ser364Ile)
|
rs752775574
|
|
NM_001165963.4(SCN1A):c.1092C>A (p.Ser364Arg)
|
rs766332635
|
|
NM_001165963.4(SCN1A):c.1096G>C (p.Asp366His)
|
rs750209664
|
|
NM_001165963.4(SCN1A):c.1098T>C (p.Asp366=)
|
rs121917958
|
|
NM_001165963.4(SCN1A):c.1112C>T (p.Ala371Val)
|
rs796052971
|
|
NM_001165963.4(SCN1A):c.1119del (p.Leu373fs)
|
rs886041939
|
|
NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter)
|
rs794726799
|
|
NM_001165963.4(SCN1A):c.1130G>A (p.Arg377Gln)
|
rs121917957
|
|
NM_001165963.4(SCN1A):c.1130G>T (p.Arg377Leu)
|
|
|
NM_001165963.4(SCN1A):c.1133T>A (p.Leu378Gln)
|
rs1698003832
|
|
NM_001165963.4(SCN1A):c.1139del (p.Thr380fs)
|
rs796053047
|
|
NM_001165963.4(SCN1A):c.1141C>A (p.Gln381Lys)
|
rs1553547403
|
|
NM_001165963.4(SCN1A):c.1141C>G (p.Gln381Glu)
|
rs1553547403
|
|
NM_001165963.4(SCN1A):c.1150T>A (p.Trp384Arg)
|
rs1057523858
|
|
NM_001165963.4(SCN1A):c.1151G>A (p.Trp384Ter)
|
rs1553547380
|
|
NM_001165963.4(SCN1A):c.1162T>C (p.Tyr388His)
|
rs121918781
|
|
NM_001165963.4(SCN1A):c.1162del (p.Tyr388fs)
|
rs398123580
|
|
NM_001165963.4(SCN1A):c.1170+1G>A
|
rs794726765
|
|
NM_001165963.4(SCN1A):c.1170+1G>T
|
rs794726765
|
|
NM_001165963.4(SCN1A):c.1170+4A>G
|
rs1697995660
|
|
NM_001165963.4(SCN1A):c.1170+5G>C
|
rs1057524737
|
|
NM_001165963.4(SCN1A):c.1171-132del
|
rs202157655
|
|
NM_001165963.4(SCN1A):c.1171-2A>G
|
rs2105862987
|
|
NM_001165963.4(SCN1A):c.1171-6T>C
|
|
|
NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys)
|
rs121917929
|
|
NM_001165963.4(SCN1A):c.1177del (p.Arg393fs)
|
rs1553546981
|
|
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His)
|
rs121917927
|
|
NM_001165963.4(SCN1A):c.1181C>T (p.Ala394Val)
|
rs2105862847
|
|
NM_001165963.4(SCN1A):c.1182T>C (p.Ala394=)
|
|
|
NM_001165963.4(SCN1A):c.1184C>G (p.Ala395Gly)
|
|
|
NM_001165963.4(SCN1A):c.1191A>G (p.Lys397=)
|
|
|
NM_001165963.4(SCN1A):c.1192del (p.Thr398fs)
|
rs796053055
|
|
NM_001165963.4(SCN1A):c.1195T>G (p.Tyr399Asp)
|
rs796052974
|
|
NM_001165963.4(SCN1A):c.1201A>G (p.Ile401Val)
|
rs1697908394
|
|
NM_001165963.4(SCN1A):c.1204T>C (p.Phe402Leu)
|
rs796053094
|
|
NM_001165963.4(SCN1A):c.1216G>T (p.Val406Phe)
|
rs121918768
|
|
NM_001165963.4(SCN1A):c.121A>G (p.Lys41Glu)
|
rs764444350
|
|
NM_001165963.4(SCN1A):c.1230del (p.Ser411fs)
|
rs1064796087
|
|
NM_001165963.4(SCN1A):c.1232C>A (p.Ser411Ter)
|
rs2105862310
|
|
NM_001165963.4(SCN1A):c.1247_1248insGTAGA (p.Asn416delinsLysTer)
|
rs796053056
|
|
NM_001165963.4(SCN1A):c.1253T>C (p.Ile418Thr)
|
rs1697902111
|
|
NM_001165963.4(SCN1A):c.1259C>A (p.Ala420Asp)
|
rs794726826
|
|
NM_001165963.4(SCN1A):c.1261G>A (p.Val421Met)
|
rs781507889
|
|
NM_001165963.4(SCN1A):c.1262T>C (p.Val421Ala)
|
rs796052975
|
|
NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met)
|
rs886042528
|
|
NM_001165963.4(SCN1A):c.1271T>C (p.Met424Thr)
|
rs1574234690
|
|
NM_001165963.4(SCN1A):c.1277A>G (p.Tyr426Cys)
|
rs796052973
|
|
NM_001165963.4(SCN1A):c.1280A>C (p.Glu427Ala)
|
rs1697894901
|
|
NM_001165963.4(SCN1A):c.1294G>C (p.Ala432Pro)
|
rs1697892980
|
|
NM_001165963.4(SCN1A):c.1312G>C (p.Glu438Gln)
|
|
|
NM_001165963.4(SCN1A):c.1313A>G (p.Glu438Gly)
|
rs2105861457
|
|
NM_001165963.4(SCN1A):c.1323_1328del (p.Ala442_Glu443del)
|
rs1697886499
|
|
NM_001165963.4(SCN1A):c.1325C>G (p.Ala442Gly)
|
rs2105861318
|
|
NM_001165963.4(SCN1A):c.1339A>G (p.Met447Val)
|
rs777596738
|
|
NM_001165963.4(SCN1A):c.1341G>A (p.Met447Ile)
|
rs2105861173
|
|
NM_001165963.4(SCN1A):c.1344dup (p.Glu449Ter)
|
rs1064793803
|
|
NM_001165963.4(SCN1A):c.1347del (p.Glu449fs)
|
rs1064794147
|
|
NM_001165963.4(SCN1A):c.1348C>T (p.Gln450Ter)
|
rs796052976
|
|
NM_001165963.4(SCN1A):c.134A>G (p.Asp45Gly)
|
rs1559284606
|
|
NM_001165963.4(SCN1A):c.1354A>T (p.Lys452Ter)
|
rs1553546668
|
|
NM_001165963.4(SCN1A):c.135C>T (p.Asp45=)
|
rs201985242
|
|
NM_001165963.4(SCN1A):c.1363C>T (p.Gln455Ter)
|
rs1064796824
|
|
NM_001165963.4(SCN1A):c.1377+1G>C
|
rs886043864
|
|
NM_001165963.4(SCN1A):c.1377+1del
|
rs1057518129
|
|
NM_001165963.4(SCN1A):c.1377+92T>G
|
rs538921
|
|
NM_001165963.4(SCN1A):c.1377G>A (p.Gln459=)
|
rs1697877323
|
|
NM_001165963.4(SCN1A):c.1378-152del
|
rs5836074
|
|
NM_001165963.4(SCN1A):c.1378-153_1378-152del
|
rs5836074
|
|
NM_001165963.4(SCN1A):c.1378C>T (p.Gln460Ter)
|
rs1559221910
|
|
NM_001165963.4(SCN1A):c.137_165del (p.Glu46fs)
|
rs1684678839
|
|
NM_001165963.4(SCN1A):c.1396G>C (p.Ala466Pro)
|
rs762652516
|
|
NM_001165963.4(SCN1A):c.140del (p.Asn47fs)
|
rs796053075
|
|
NM_001165963.4(SCN1A):c.141del (p.Asn47fs)
|
rs796053076
|
|
NM_001165963.4(SCN1A):c.1423_1424delinsCT (p.Ala475Leu)
|
rs2105852411
|
|
NM_001165963.4(SCN1A):c.1430del (p.Gly477fs)
|
rs796053057
|
|
NM_001165963.4(SCN1A):c.1462_1466del (p.Lys488fs)
|
rs1553545742
|
|
NM_001165963.4(SCN1A):c.1477A>C (p.Ser493Arg)
|
rs1574225131
|
|
NM_001165963.4(SCN1A):c.1479T>A (p.Ser493Arg)
|
rs200545739
|
|
NM_001165963.4(SCN1A):c.1484A>G (p.Lys495Arg)
|
rs398123582
|
|
NM_001165963.4(SCN1A):c.1487A>G (p.Glu496Gly)
|
|
|
NM_001165963.4(SCN1A):c.1511G>C (p.Arg504Thr)
|
|
|
NM_001165963.4(SCN1A):c.1511_1515del (p.Arg504fs)
|
rs1553545660
|
|
NM_001165963.4(SCN1A):c.1518_1522del (p.Lys507fs)
|
rs796053058
|
|
NM_001165963.4(SCN1A):c.1537dup (p.Glu513fs)
|
rs796053059
|
|
NM_001165963.4(SCN1A):c.1539A>G (p.Glu513=)
|
rs587781144
|
|
NM_001165963.4(SCN1A):c.1548T>C (p.Asp516=)
|
rs1057524611
|
|
NM_001165963.4(SCN1A):c.1548T>G (p.Asp516Glu)
|
rs1057524611
|
|
NM_001165963.4(SCN1A):c.1571A>T (p.Glu524Val)
|
rs1406176906
|
|
NM_001165963.4(SCN1A):c.1586T>C (p.Ile529Thr)
|
rs1166000241
|
|
NM_001165963.4(SCN1A):c.1588A>G (p.Arg530Gly)
|
|
|
NM_001165963.4(SCN1A):c.1598del (p.Gly533fs)
|
rs1697640966
|
|
NM_001165963.4(SCN1A):c.1606T>G (p.Phe536Val)
|
rs1254340060
|
|
NM_001165963.4(SCN1A):c.1622A>G (p.Asn541Ser)
|
rs1697635871
|
|
NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter)
|
|
|
NM_001165963.4(SCN1A):c.1633T>C (p.Tyr545His)
|
rs1064794913
|
|
NM_001165963.4(SCN1A):c.1633T>G (p.Tyr545Asp)
|
rs1064794913
|
|
NM_001165963.4(SCN1A):c.1660C>T (p.Gln554Ter)
|
rs1064795620
|
|
NM_001165963.4(SCN1A):c.1662+1G>A
|
rs794726749
|
|
NM_001165963.4(SCN1A):c.1662+2T>C
|
rs1131691545
|
|
NM_001165963.4(SCN1A):c.1662+7C>G
|
rs398123583
|
|
NM_001165963.4(SCN1A):c.1662G>A (p.Gln554=)
|
rs796052977
|
|
NM_001165963.4(SCN1A):c.1662G>C (p.Gln554His)
|
rs796052977
|
|
NM_001165963.4(SCN1A):c.1663-2A>C
|
rs1085307520
|
|
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter)
|
rs886039430
|
|
NM_001165963.4(SCN1A):c.1707T>G (p.Asn569Lys)
|
rs778432457
|
|
NM_001165963.4(SCN1A):c.1709G>A (p.Ser570Asn)
|
rs1057518703
|
|
NM_001165963.4(SCN1A):c.1712G>A (p.Arg571Lys)
|
rs1697493699
|
|
NM_001165963.4(SCN1A):c.1714A>G (p.Thr572Ala)
|
|
|
NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter)
|
rs794726736
|
|
NM_001165963.4(SCN1A):c.1739_1742dup (p.Lys582fs)
|
rs796053060
|
|
NM_001165963.4(SCN1A):c.1759G>A (p.Glu587Lys)
|
rs1057524494
|
|
NM_001165963.4(SCN1A):c.1766A>T (p.Asp589Val)
|
rs398123584
|
|
NM_001165963.4(SCN1A):c.1797G>T (p.Glu599Asp)
|
rs145035963
|
|
NM_001165963.4(SCN1A):c.1813_1822del (p.Arg605fs)
|
rs1697464108
|
|
NM_001165963.4(SCN1A):c.1817A>T (p.Asp606Val)
|
rs748797259
|
|
NM_001165963.4(SCN1A):c.1819T>A (p.Ser607Thr)
|
rs967989950
|
|
NM_001165963.4(SCN1A):c.1819del (p.Ser607fs)
|
rs796053062
|
|
NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter)
|
rs398123585
|
|
NM_001165963.4(SCN1A):c.1838G>A (p.Arg613Gln)
|
rs755323236
|
|
NM_001165963.4(SCN1A):c.1849A>G (p.Arg617Gly)
|
rs1553544701
|
|
NM_001165963.4(SCN1A):c.1850_1851del (p.Arg617fs)
|
|
|
NM_001165963.4(SCN1A):c.1852del (p.Arg618fs)
|
rs796053064
|
|
NM_001165963.4(SCN1A):c.1853_1854del (p.Arg618fs)
|
rs886041644
|
|
NM_001165963.4(SCN1A):c.185_189dup (p.Ile64fs)
|
rs1064795078
|
|
NM_001165963.4(SCN1A):c.1867A>C (p.Ser623Arg)
|
|
|
NM_001165963.4(SCN1A):c.1873A>G (p.Thr625Ala)
|
rs2105842681
|
|
NM_001165963.4(SCN1A):c.1948G>A (p.Val650Met)
|
rs398123586
|
|
NM_001165963.4(SCN1A):c.1997A>G (p.Gln666Arg)
|
|
|
NM_001165963.4(SCN1A):c.200A>T (p.Asp67Val)
|
rs2105982601
|
|
NM_001165963.4(SCN1A):c.2011del (p.Glu670_Val671insTer)
|
|
|
NM_001165963.4(SCN1A):c.2035G>A (p.Asp679Asn)
|
rs796052979
|
|
NM_001165963.4(SCN1A):c.203T>G (p.Ile68Ser)
|
rs758871507
|
|
NM_001165963.4(SCN1A):c.2043+1G>A
|
rs751533302
|
|
NM_001165963.4(SCN1A):c.2043+6_2043+9del
|
rs794727024
|
|
NM_001165963.4(SCN1A):c.2044-5del
|
rs549232924
|
|
NM_001165963.4(SCN1A):c.2044-5dup
|
rs549232924
|
|
NM_001165963.4(SCN1A):c.2051C>T (p.Thr684Ile)
|
rs1574209746
|
|
NM_001165963.4(SCN1A):c.2057A>G (p.Glu686Gly)
|
rs374767754
|
|
NM_001165963.4(SCN1A):c.2066T>G (p.Met689Arg)
|
|
|
NM_001165963.4(SCN1A):c.2078G>A (p.Arg693Lys)
|
|
|
NM_001165963.4(SCN1A):c.2095G>A (p.Val699Ile)
|
rs1260934774
|
|
NM_001165963.4(SCN1A):c.2111T>C (p.Leu704Pro)
|
rs1131691747
|
|
NM_001165963.4(SCN1A):c.2111dup (p.Glu705fs)
|
rs1064795227
|
|
NM_001165963.4(SCN1A):c.2117A>T (p.Asp706Val)
|
rs1574209133
|
|
NM_001165963.4(SCN1A):c.2122T>C (p.Ser708Pro)
|
rs1271652586
|
|
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter)
|
rs794726730
|
|
NM_001165963.4(SCN1A):c.2145T>G (p.Ser715Arg)
|
|
|
NM_001165963.4(SCN1A):c.2150C>A (p.Ala717Asp)
|
rs201021176
|
|
NM_001165963.4(SCN1A):c.2156T>A (p.Ile719Asn)
|
rs1553543839
|
|
NM_001165963.4(SCN1A):c.2173G>T (p.Glu725Ter)
|
rs1553543828
|
|
NM_001165963.4(SCN1A):c.2175A>C (p.Glu725Asp)
|
|
|
NM_001165963.4(SCN1A):c.2177-11dup
|
rs11394960
|
|
NM_001165963.4(SCN1A):c.2177-1G>C
|
rs763400390
|
|
NM_001165963.4(SCN1A):c.2177-1G>T
|
rs763400390
|
|
NM_001165963.4(SCN1A):c.2177-6A>G
|
rs1559210650
|
|
NM_001165963.4(SCN1A):c.2177-7A>T
|
rs768129301
|
|
NM_001165963.4(SCN1A):c.2177-8dup
|
rs747086735
|
|
NM_001165963.4(SCN1A):c.2178A>T (p.Glu726Asp)
|
rs1697170377
|
|
NM_001165963.4(SCN1A):c.2208_2209del (p.Cys737fs)
|
rs1697164036
|
|
NM_001165963.4(SCN1A):c.2213G>A (p.Trp738Ter)
|
rs794726742
|
|
NM_001165963.4(SCN1A):c.2214G>A (p.Trp738Ter)
|
rs786205214
|
|
NM_001165963.4(SCN1A):c.2219A>T (p.Lys740Ile)
|
|
|
NM_001165963.4(SCN1A):c.2244G>A (p.Trp748Ter)
|
rs1553543340
|
|
NM_001165963.4(SCN1A):c.2255C>T (p.Pro752Leu)
|
rs1553543331
|
|
NM_001165963.4(SCN1A):c.2257T>C (p.Tyr753His)
|
|
|
NM_001165963.4(SCN1A):c.2266A>G (p.Lys756Glu)
|
rs1426666349
|
|
NM_001165963.4(SCN1A):c.2293G>A (p.Val765Met)
|
|
|
NM_001165963.4(SCN1A):c.2297T>G (p.Met766Arg)
|
rs2105828429
|
|
NM_001165963.4(SCN1A):c.2303C>T (p.Pro768Leu)
|
rs794726766
|
|
NM_001165963.4(SCN1A):c.2314del (p.Leu772fs)
|
rs1064794508
|
|
NM_001165963.4(SCN1A):c.2330G>A (p.Cys777Tyr)
|
rs2105828112
|
|
NM_001165963.4(SCN1A):c.2331del (p.Ile776_Cys777insTer)
|
rs886041969
|
|
NM_001165963.4(SCN1A):c.2334_2335insTTCCCCTTGTATT (p.Val779fs)
|
rs1064794503
|
|
NM_001165963.4(SCN1A):c.2336T>C (p.Val779Ala)
|
rs1261711145
|
|
NM_001165963.4(SCN1A):c.2339_2340insTAT (p.Leu780delinsPheIle)
|
rs796053066
|
|
NM_001165963.4(SCN1A):c.2343T>C (p.Asn781=)
|
rs1574202373
|
|
NM_001165963.4(SCN1A):c.2345C>T (p.Thr782Ile)
|
rs2105827881
|
|
NM_001165963.4(SCN1A):c.2354T>C (p.Met785Thr)
|
rs796053095
|
|
NM_001165963.4(SCN1A):c.235G>A (p.Asp79Asn)
|
rs121917982
|
|
NM_001165963.4(SCN1A):c.2360T>C (p.Met787Thr)
|
rs773695263
|
|
NM_001165963.4(SCN1A):c.2362G>A (p.Glu788Lys)
|
rs1057517959
|
|
NM_001165963.4(SCN1A):c.2369del (p.Tyr790fs)
|
|
|
NM_001165963.4(SCN1A):c.2378C>A (p.Thr793Lys)
|
rs762038032
|
|
NM_001165963.4(SCN1A):c.237C>T (p.Asp79=)
|
rs1276982403
|
|
NM_001165963.4(SCN1A):c.2380G>A (p.Asp794Asn)
|
rs1360811002
|
|
NM_001165963.4(SCN1A):c.2390A>G (p.Asn797Ser)
|
|
|
NM_001165963.4(SCN1A):c.2395G>A (p.Val799Met)
|
|
|
NM_001165963.4(SCN1A):c.23C>T (p.Pro8Leu)
|
|
|
NM_001165963.4(SCN1A):c.2402C>T (p.Thr801Ile)
|
rs2105827373
|
|
NM_001165963.4(SCN1A):c.2415+1G>C
|
rs886041292
|
|
NM_001165963.4(SCN1A):c.2415+4A>G
|
rs1553543148
|
|
NM_001165963.4(SCN1A):c.2415+8T>C
|
rs1064797265
|
|
NM_001165963.4(SCN1A):c.2416-1G>T
|
rs1553542421
|
|
NM_001165963.4(SCN1A):c.2420T>A (p.Phe807Tyr)
|
|
|
NM_001165963.4(SCN1A):c.2420dup (p.Thr808fs)
|
rs786200989
|
|
NM_001165963.4(SCN1A):c.243C>G (p.Asp81Glu)
|
rs796053016
|
|
NM_001165963.4(SCN1A):c.2445G>A (p.Met815Ile)
|
|
|
NM_001165963.4(SCN1A):c.2459T>C (p.Ile820Thr)
|
rs886055045
|
|
NM_001165963.4(SCN1A):c.2462C>T (p.Ala821Val)
|
rs2105817446
|
|
NM_001165963.4(SCN1A):c.2486A>G (p.Gln829Arg)
|
|
|
NM_001165963.4(SCN1A):c.2496G>T (p.Trp832Cys)
|
rs1553542309
|
|
NM_001165963.4(SCN1A):c.2498dup (p.Asn833fs)
|
rs886041937
|
|
NM_001165963.4(SCN1A):c.249C>T (p.Tyr83=)
|
|
|
NM_001165963.4(SCN1A):c.2504T>C (p.Phe835Ser)
|
rs796052981
|
|
NM_001165963.4(SCN1A):c.2510G>A (p.Gly837Asp)
|
|
|
NM_001165963.4(SCN1A):c.2510del (p.Gly837fs)
|
rs2105817078
|
|
NM_001165963.4(SCN1A):c.251A>G (p.Tyr84Cys)
|
rs121917964
|
|
NM_001165963.4(SCN1A):c.252T>A (p.Tyr84Ter)
|
rs2105982029
|
|
NM_001165963.4(SCN1A):c.2554G>A (p.Val852Met)
|
rs1057524206
|
|
NM_001165963.4(SCN1A):c.2569G>A (p.Val857Ile)
|
rs796052982
|
|
NM_001165963.4(SCN1A):c.2569del (p.Val857fs)
|
rs796053065
|
|
NM_001165963.4(SCN1A):c.2573T>C (p.Leu858Pro)
|
rs1696865258
|
|
NM_001165963.4(SCN1A):c.2575C>T (p.Arg859Cys)
|
rs121918784
|
|
NM_001165963.4(SCN1A):c.2584C>T (p.Arg862Ter)
|
rs397514459
|
|
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln)
|
rs121918785
|
|
NM_001165963.4(SCN1A):c.2585G>T (p.Arg862Leu)
|
rs121918785
|
|
NM_001165963.4(SCN1A):c.2589+16_2589+19del
|
rs3032638
|
|
NM_001165963.4(SCN1A):c.2589+17_2589+19del
|
rs3032638
|
|
NM_001165963.4(SCN1A):c.2589+18_2589+19del
|
rs3032638
|
|
NM_001165963.4(SCN1A):c.2589+19del
|
rs3032638
|
|
NM_001165963.4(SCN1A):c.2589+1G>T
|
rs1057517849
|
|
NM_001165963.4(SCN1A):c.2589+221_2589+224del
|
rs6147014
|
|
NM_001165963.4(SCN1A):c.2589+3A>T
|
rs794726775
|
|
NM_001165963.4(SCN1A):c.2590-2A>G
|
rs727504140
|
|
NM_001165963.4(SCN1A):c.2590C>A (p.Leu864Met)
|
rs140035595
|
|
NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter)
|
rs794726697
|
|
NM_001165963.4(SCN1A):c.2594G>A (p.Arg865Gln)
|
rs1057517862
|
|
NM_001165963.4(SCN1A):c.25C>A (p.Pro9Thr)
|
|
|
NM_001165963.4(SCN1A):c.2606T>C (p.Leu869Ser)
|
rs1057518110
|
|
NM_001165963.4(SCN1A):c.2615C>A (p.Ser872Tyr)
|
rs794726786
|
|
NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met)
|
rs121918623
|
|
NM_001165963.4(SCN1A):c.264+4A>T
|
rs1574371074
|
|
NM_001165963.4(SCN1A):c.264+4_264+7del
|
rs1574370981
|
|
NM_001165963.4(SCN1A):c.2644A>T (p.Ile882Phe)
|
rs1064797019
|
|
NM_001165963.4(SCN1A):c.2648T>C (p.Ile883Thr)
|
rs2105808409
|
|
NM_001165963.4(SCN1A):c.265-1G>A
|
rs796052953
|
|
NM_001165963.4(SCN1A):c.265-2137C>T
|
|
|
NM_001165963.4(SCN1A):c.265-3C>T
|
rs1553553614
|
|
NM_001165963.4(SCN1A):c.2665G>A (p.Ala889Thr)
|
rs1266877537
|
|
NM_001165963.4(SCN1A):c.2667T>C (p.Ala889=)
|
rs1206449277
|
|
NM_001165963.4(SCN1A):c.266del (p.Thr89fs)
|
rs1064797266
|
|
NM_001165963.4(SCN1A):c.2681C>G (p.Thr894Ser)
|
rs796052983
|
|
NM_001165963.4(SCN1A):c.2686_2694del (p.Val896_Ala898del)
|
rs797044981
|
|
NM_001165963.4(SCN1A):c.2691G>C (p.Leu897Phe)
|
rs1574183148
|
|
NM_001165963.4(SCN1A):c.269T>C (p.Phe90Ser)
|
rs121918733
|
|
NM_001165963.4(SCN1A):c.2713G>A (p.Ala905Thr)
|
|
|
NM_001165963.4(SCN1A):c.2722G>A (p.Gly908Ser)
|
rs796052984
|
|
NM_001165963.4(SCN1A):c.2722G>C (p.Gly908Arg)
|
rs796052984
|
|
NM_001165963.4(SCN1A):c.2729A>G (p.Gln910Arg)
|
rs1064795735
|
|
NM_001165963.4(SCN1A):c.2744G>A (p.Ser915Asn)
|
|
|
NM_001165963.4(SCN1A):c.2767A>G (p.Ile923Val)
|
rs2105807305
|
|
NM_001165963.4(SCN1A):c.2782C>T (p.Gln928Ter)
|
rs796052985
|
|
NM_001165963.4(SCN1A):c.278_279dup (p.Asn94Ter)
|
rs1064796213
|
|
NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys)
|
rs121918788
|
|
NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His)
|
rs794726718
|
|
NM_001165963.4(SCN1A):c.2796G>C (p.Trp932Cys)
|
rs1553541303
|
|
NM_001165963.4(SCN1A):c.2797C>T (p.His933Tyr)
|
rs886041716
|
|
NM_001165963.4(SCN1A):c.2799C>A (p.His933Gln)
|
rs1064795736
|
|
NM_001165963.4(SCN1A):c.2800A>G (p.Met934Val)
|
rs1559199628
|
|
NM_001165963.4(SCN1A):c.2806G>T (p.Asp936Tyr)
|
rs796052988
|
|
NM_001165963.4(SCN1A):c.2815C>T (p.His939Tyr)
|
rs121918736
|
|
NM_001165963.4(SCN1A):c.2816A>C (p.His939Pro)
|
rs398123589
|
|
NM_001165963.4(SCN1A):c.2816A>G (p.His939Arg)
|
rs398123589
|
|
NM_001165963.4(SCN1A):c.2817C>A (p.His939Gln)
|
rs121918795
|
|
NM_001165963.4(SCN1A):c.2819C>T (p.Ser940Phe)
|
rs1057521080
|
|
NM_001165963.4(SCN1A):c.2824C>T (p.Leu942=)
|
|
|
NM_001165963.4(SCN1A):c.2836C>T (p.Arg946Cys)
|
rs121918775
|
|
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
|
|
|
NM_001165963.4(SCN1A):c.2839G>A (p.Val947Met)
|
rs796052986
|
|
NM_001165963.4(SCN1A):c.2843T>C (p.Leu948Pro)
|
rs2105806501
|
|
NM_001165963.4(SCN1A):c.2846G>A (p.Cys949Tyr)
|
rs1696624989
|
|
NM_001165963.4(SCN1A):c.2846G>C (p.Cys949Ser)
|
rs1696624989
|
|
NM_001165963.4(SCN1A):c.2849G>A (p.Gly950Glu)
|
rs121917972
|
|
NM_001165963.4(SCN1A):c.2851del (p.Glu951fs)
|
rs886042004
|
|
NM_001165963.4(SCN1A):c.2852A>G (p.Glu951Gly)
|
rs1574181209
|
|
NM_001165963.4(SCN1A):c.2876G>A (p.Cys959Tyr)
|
rs794726716
|
|
NM_001165963.4(SCN1A):c.2877T>A (p.Cys959Ter)
|
rs775214722
|
|
NM_001165963.4(SCN1A):c.2885T>C (p.Val962Ala)
|
rs138858653
|
|
NM_001165963.4(SCN1A):c.2897_2910del (p.Ala966fs)
|
rs1553541066
|
|
NM_001165963.4(SCN1A):c.2923G>C (p.Val975Leu)
|
rs727504139
|
|
NM_001165963.4(SCN1A):c.2927T>C (p.Met976Thr)
|
rs1057518325
|
|
NM_001165963.4(SCN1A):c.292del (p.Ala98fs)
|
rs796053050
|
|
NM_001165963.4(SCN1A):c.2935G>A (p.Gly979Arg)
|
rs121918754
|
|
NM_001165963.4(SCN1A):c.2939A>G (p.Asn980Ser)
|
rs796052989
|
|
NM_001165963.4(SCN1A):c.293C>T (p.Ala98Val)
|
rs2105918454
|
|
NM_001165963.4(SCN1A):c.2941C>A (p.Leu981Ile)
|
rs1057518112
|
|
NM_001165963.4(SCN1A):c.2946+10C>T
|
rs1574179707
|
|
NM_001165963.4(SCN1A):c.2946+112dup
|
rs67819222
|
|
NM_001165963.4(SCN1A):c.2946+120del
|
rs67819222
|
|
NM_001165963.4(SCN1A):c.2946+162_2946+165del
|
rs66463257
|
|
NM_001165963.4(SCN1A):c.2946+1G>T
|
rs794726772
|
|
NM_001165963.4(SCN1A):c.2946+1_2946+2dup
|
rs1064793341
|
|
NM_001165963.4(SCN1A):c.2946+2T>G
|
rs797044985
|
|
NM_001165963.4(SCN1A):c.2946+4T>C
|
rs1390205269
|
|
NM_001165963.4(SCN1A):c.2946+5G>A
|
rs1057520486
|
|
NM_001165963.4(SCN1A):c.2947-1G>A
|
rs1553540508
|
|
NM_001165963.4(SCN1A):c.2947del
|
rs1696406839
|
|
NM_001165963.4(SCN1A):c.2955T>G (p.Asn985Lys)
|
rs2105797652
|
|
NM_001165963.4(SCN1A):c.2966C>T (p.Ala989Val)
|
rs796052990
|
|
NM_001165963.4(SCN1A):c.2970G>T (p.Leu990Phe)
|
|
|
NM_001165963.4(SCN1A):c.2975dup (p.Ser993fs)
|
rs886041852
|
|
NM_001165963.4(SCN1A):c.2979_2992del (p.Ser993fs)
|
rs1553540464
|
|
NM_001165963.4(SCN1A):c.2981C>T (p.Ser994Leu)
|
rs1574172286
|
|
NM_001165963.4(SCN1A):c.2984T>G (p.Phe995Cys)
|
rs727504138
|
|
NM_001165963.4(SCN1A):c.2985T>G (p.Phe995Leu)
|
rs794726746
|
|
NM_001165963.4(SCN1A):c.2993A>G (p.Asp998Gly)
|
rs1484321812
|
|
NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu)
|
rs796052991
|
|
NM_001165963.4(SCN1A):c.2994del (p.Asp998fs)
|
rs796053067
|
|
NM_001165963.4(SCN1A):c.2T>C (p.Met1Thr)
|
rs1553561023
|
|
NM_001165963.4(SCN1A):c.3008C>G (p.Thr1003Ser)
|
rs1343188948
|
|
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp)
|
rs121917965
|
|
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln)
|
rs121917918
|
|
NM_001165963.4(SCN1A):c.302G>T (p.Arg101Leu)
|
rs121917918
|
|
NM_001165963.4(SCN1A):c.3046G>A (p.Val1016Met)
|
rs370857858
|
|
NM_001165963.4(SCN1A):c.305dup (p.Ser103fs)
|
rs796053051
|
|
NM_001165963.4(SCN1A):c.3064_3065delinsAA (p.Gly1022Lys)
|
rs2105796551
|
|
NM_001165963.4(SCN1A):c.3067_3071del (p.Val1023fs)
|
rs2105796501
|
|
NM_001165963.4(SCN1A):c.3068del (p.Val1023fs)
|
|
|
NM_001165963.4(SCN1A):c.3070_3074del (p.Ala1024fs)
|
rs2105796481
|
|
NM_001165963.4(SCN1A):c.310_312del (p.Ala104del)
|
rs1699362921
|
|
NM_001165963.4(SCN1A):c.314C>T (p.Thr105Ile)
|
rs796053089
|
|
NM_001165963.4(SCN1A):c.320C>T (p.Ala107Val)
|
rs1559254819
|
|
NM_001165963.4(SCN1A):c.323dup (p.Tyr109fs)
|
rs886041926
|
|
NM_001165963.4(SCN1A):c.335C>T (p.Thr112Ile)
|
rs121918745
|
|
NM_001165963.4(SCN1A):c.337C>A (p.Pro113Thr)
|
rs794726711
|
|
NM_001165963.4(SCN1A):c.344A>G (p.Asn115Ser)
|
rs1699357096
|
|
NM_001165963.4(SCN1A):c.350T>C (p.Leu117Pro)
|
rs1064796384
|
|
NM_001165963.4(SCN1A):c.354G>T (p.Arg118Ser)
|
rs121917959
|
|
NM_001165963.4(SCN1A):c.364A>G (p.Ile122Val)
|
rs1405137253
|
|
NM_001165963.4(SCN1A):c.366T>G (p.Ile122Met)
|
rs752918105
|
|
NM_001165963.4(SCN1A):c.368del (p.Lys123fs)
|
rs796053052
|
|
NM_001165963.4(SCN1A):c.376G>A (p.Val126Ile)
|
rs1699350822
|
|
NM_001165963.4(SCN1A):c.382T>G (p.Ser128Ala)
|
|
|
NM_001165963.4(SCN1A):c.382_383+4del
|
|
|
NM_001165963.4(SCN1A):c.383+5C>A
|
rs1060502185
|
|
NM_001165963.4(SCN1A):c.384dup (p.Leu129fs)
|
rs886041501
|
|
NM_001165963.4(SCN1A):c.386T>G (p.Leu129Ter)
|
rs2105909995
|
|
NM_001165963.4(SCN1A):c.416T>G (p.Leu139Trp)
|
rs1553552378
|
|
NM_001165963.4(SCN1A):c.417G>C (p.Leu139Phe)
|
rs1699149959
|
|
NM_001165963.4(SCN1A):c.427_430del (p.Val143fs)
|
rs1699147493
|
|
NM_001165963.4(SCN1A):c.434T>A (p.Met145Lys)
|
rs121918631
|
|
NM_001165963.4(SCN1A):c.434T>C (p.Met145Thr)
|
rs121918631
|
|
NM_001165963.4(SCN1A):c.442del (p.Ser148fs)
|
rs1699143102
|
|
NM_001165963.4(SCN1A):c.458G>T (p.Trp153Leu)
|
rs2105909582
|
|
NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln)
|
rs796053090
|
|
NM_001165963.4(SCN1A):c.473+5G>C
|
rs1064794634
|
|
NM_001165963.4(SCN1A):c.475T>C (p.Tyr159His)
|
rs2105902773
|
|
NM_001165963.4(SCN1A):c.476del (p.Tyr159fs)
|
rs796053053
|
|
NM_001165963.4(SCN1A):c.485C>T (p.Thr162Ile)
|
rs1698960532
|
|
NM_001165963.4(SCN1A):c.487G>T (p.Gly163Ter)
|
rs1553551498
|
|
NM_001165963.4(SCN1A):c.491T>A (p.Ile164Lys)
|
rs1574282312
|
|
NM_001165963.4(SCN1A):c.495T>C (p.Tyr165=)
|
rs547496777
|
|
NM_001165963.4(SCN1A):c.502G>C (p.Glu168Gln)
|
|
|
NM_001165963.4(SCN1A):c.505T>C (p.Ser169Pro)
|
rs796052957
|
|
NM_001165963.4(SCN1A):c.509T>C (p.Leu170Pro)
|
rs1064793315
|
|
NM_001165963.4(SCN1A):c.512del (p.Ile171fs)
|
rs2105902403
|
|
NM_001165963.4(SCN1A):c.514A>T (p.Lys172Ter)
|
rs1553551463
|
|
NM_001165963.4(SCN1A):c.519T>G (p.Ile173Met)
|
rs1283681963
|
|
NM_001165963.4(SCN1A):c.539T>G (p.Leu180Ter)
|
rs1574281711
|
|
NM_001165963.4(SCN1A):c.53C>T (p.Thr18Ile)
|
|
|
NM_001165963.4(SCN1A):c.53_55del (p.Thr18del)
|
|
|
NM_001165963.4(SCN1A):c.544G>T (p.Asp182Tyr)
|
|
|
NM_001165963.4(SCN1A):c.549dup (p.Thr184fs)
|
rs1553551425
|
|
NM_001165963.4(SCN1A):c.550A>T (p.Thr184Ser)
|
rs368798811
|
|
NM_001165963.4(SCN1A):c.554T>C (p.Phe185Ser)
|
rs1358421236
|
|
NM_001165963.4(SCN1A):c.559_602+6del
|
rs1553551304
|
|
NM_001165963.4(SCN1A):c.55A>G (p.Arg19Gly)
|
rs796053096
|
|
NM_001165963.4(SCN1A):c.563A>G (p.Asp188Gly)
|
|
|
NM_001165963.4(SCN1A):c.566C>T (p.Pro189Leu)
|
rs2105901930
|
|
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn)
|
rs121917935
|
|
NM_001165963.4(SCN1A):c.594del (p.Thr199fs)
|
rs1698940903
|
|
NM_001165963.4(SCN1A):c.596C>T (p.Thr199Ile)
|
rs121917983
|
|
NM_001165963.4(SCN1A):c.600dup (p.Ala201fs)
|
rs886041733
|
|
NM_001165963.4(SCN1A):c.602+1G>A
|
|
|
NM_001165963.4(SCN1A):c.602+1G>C
|
rs794726827
|
|
NM_001165963.4(SCN1A):c.602+269CA[3]
|
rs66512822
|
|
NM_001165963.4(SCN1A):c.602+2dup
|
rs796053054
|
|
NM_001165963.4(SCN1A):c.602+6_602+7dup
|
rs577627288
|
|
NM_001165963.4(SCN1A):c.603-1G>A
|
rs796052959
|
|
NM_001165963.4(SCN1A):c.607_611del (p.Val203fs)
|
rs1553550625
|
|
NM_001165963.4(SCN1A):c.621G>A (p.Val207=)
|
|
|
NM_001165963.4(SCN1A):c.626_694+31del
|
|
|
NM_001165963.4(SCN1A):c.632A>G (p.Asn211Ser)
|
rs1553550618
|
|
NM_001165963.4(SCN1A):c.633T>C (p.Asn211=)
|
|
|
NM_001165963.4(SCN1A):c.637_650delinsCACA (p.Ser213fs)
|
rs1064793678
|
|
NM_001165963.4(SCN1A):c.638C>G (p.Ser213Trp)
|
rs754661378
|
|
NM_001165963.4(SCN1A):c.644T>A (p.Leu215Ter)
|
rs886041604
|
|
NM_001165963.4(SCN1A):c.655A>G (p.Arg219Gly)
|
rs1553550574
|
|
NM_001165963.4(SCN1A):c.656G>C (p.Arg219Thr)
|
rs796052960
|
|
NM_001165963.4(SCN1A):c.657A>C (p.Arg219Ser)
|
rs727504143
|
|
NM_001165963.4(SCN1A):c.657A>T (p.Arg219Ser)
|
rs727504143
|
|
NM_001165963.4(SCN1A):c.662T>C (p.Leu221Pro)
|
rs796052961
|
|
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)
|
rs121918624
|
|
NM_001165963.4(SCN1A):c.667G>C (p.Ala223Pro)
|
rs1553550552
|
|
NM_001165963.4(SCN1A):c.671T>C (p.Leu224Ser)
|
rs796053091
|
|
NM_001165963.4(SCN1A):c.672G>C (p.Leu224Phe)
|
|
|
NM_001165963.4(SCN1A):c.675G>C (p.Lys225Asn)
|
rs794726719
|
|
NM_001165963.4(SCN1A):c.677C>G (p.Thr226Arg)
|
rs121917984
|
|
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)
|
rs121917984
|
|
NM_001165963.4(SCN1A):c.680T>C (p.Ile227Thr)
|
rs121917937
|
|
NM_001165963.4(SCN1A):c.680T>G (p.Ile227Ser)
|
rs121917937
|
|
NM_001165963.4(SCN1A):c.68C>A (p.Ala23Glu)
|
rs139397227
|
|
NM_001165963.4(SCN1A):c.694+224dup
|
rs1553550372
|
|
NM_001165963.4(SCN1A):c.694+227_694+228dup
|
rs34747425
|
|
NM_001165963.4(SCN1A):c.694+227dup
|
rs34747425
|
|
NM_001165963.4(SCN1A):c.694+5G>C
|
rs727504142
|
|
NM_001165963.4(SCN1A):c.695-1G>A
|
|
|
NM_001165963.4(SCN1A):c.695-2_697delinsCCACAA
|
rs1553549997
|
|
NM_001165963.4(SCN1A):c.6G>C (p.Glu2Asp)
|
rs771003075
|
|
NM_001165963.4(SCN1A):c.6G>T (p.Glu2Asp)
|
rs771003075
|
|
NM_001165963.4(SCN1A):c.700A>G (p.Lys234Glu)
|
rs1553549993
|
|
NM_001165963.4(SCN1A):c.705del (p.Ile236fs)
|
rs886041442
|
|
NM_001165963.4(SCN1A):c.707T>C (p.Ile236Thr)
|
rs886039464
|
|
NM_001165963.4(SCN1A):c.717C>A (p.Ala239=)
|
rs759923734
|
|
NM_001165963.4(SCN1A):c.731T>C (p.Val244Ala)
|
rs1553549902
|
|
NM_001165963.4(SCN1A):c.739C>G (p.Leu247Val)
|
rs796053092
|
|
NM_001165963.4(SCN1A):c.73A>T (p.Ile25Phe)
|
rs2105983873
|
|
NM_001165963.4(SCN1A):c.746A>T (p.Asp249Val)
|
rs762927460
|
|
NM_001165963.4(SCN1A):c.748G>A (p.Val250Ile)
|
rs796052962
|
|
NM_001165963.4(SCN1A):c.749T>A (p.Val250Glu)
|
rs1553549845
|
|
NM_001165963.4(SCN1A):c.755T>A (p.Ile252Asn)
|
rs121918780
|
|
NM_001165963.4(SCN1A):c.756C>T (p.Ile252=)
|
rs587780447
|
|
NM_001165963.4(SCN1A):c.765_766del (p.Phe256fs)
|
rs886041961
|
|
NM_001165963.4(SCN1A):c.769T>C (p.Cys257Arg)
|
rs794726771
|
|
NM_001165963.4(SCN1A):c.779dup (p.Phe261fs)
|
rs1574265485
|
|
NM_001165963.4(SCN1A):c.782_788del (p.Val260_Phe261insTer)
|
rs1698602478
|
|
NM_001165963.4(SCN1A):c.797T>C (p.Leu266Pro)
|
rs1559238432
|
|
NM_001165963.4(SCN1A):c.800A>C (p.Gln267Pro)
|
rs200034964
|
|
NM_001165963.4(SCN1A):c.802C>T (p.Leu268=)
|
rs2105889931
|
|
NM_001165963.4(SCN1A):c.808A>G (p.Met270Val)
|
|
|
NM_001165963.4(SCN1A):c.810G>A (p.Met270Ile)
|
rs2105889888
|
|
NM_001165963.4(SCN1A):c.811_815dup (p.Asn272fs)
|
rs1574265144
|
|
NM_001165963.4(SCN1A):c.818T>C (p.Leu273Pro)
|
rs1085307892
|
|
NM_001165963.4(SCN1A):c.827A>T (p.Lys276Ile)
|
rs796052963
|
|
NM_001165963.4(SCN1A):c.830del (p.Cys277fs)
|
rs794727786
|
|
NM_001165963.4(SCN1A):c.840G>A (p.Trp280Ter)
|
rs1553549667
|
|
NM_001165963.4(SCN1A):c.842C>T (p.Pro281Leu)
|
rs796052964
|
|
NM_001165963.4(SCN1A):c.852T>C (p.Asn284=)
|
rs748747434
|
|
NM_001165963.4(SCN1A):c.85A>G (p.Ile29Val)
|
|
|
NM_001165963.4(SCN1A):c.861G>A (p.Leu287=)
|
rs568461410
|
|
NM_001165963.4(SCN1A):c.862G>C (p.Glu288Gln)
|
rs796052966
|
|
NM_001165963.4(SCN1A):c.86T>C (p.Ile29Thr)
|
rs773935383
|
|
NM_001165963.4(SCN1A):c.873T>C (p.Ser291=)
|
rs1007259779
|
|
NM_001165963.4(SCN1A):c.893_894del (p.Val298fs)
|
rs1064794252
|
|
NM_001165963.4(SCN1A):c.907A>G (p.Thr303Ala)
|
rs774358847
|
|
NM_001165963.4(SCN1A):c.916A>C (p.Asn306His)
|
rs2105888896
|
|
NM_001165963.4(SCN1A):c.918T>G (p.Asn306Lys)
|
|
|
NM_001165963.4(SCN1A):c.919G>T (p.Glu307Ter)
|
rs1275890918
|
|
NM_001165963.4(SCN1A):c.935T>G (p.Phe312Cys)
|
rs886044441
|
|
NM_001165963.4(SCN1A):c.942del (p.Asp313_Trp314insTer)
|
rs796053105
|
|
NM_001165963.4(SCN1A):c.949T>C (p.Tyr317His)
|
rs1553549461
|
|
NM_001165963.4(SCN1A):c.959A>T (p.Asp320Val)
|
rs796052967
|
|
NM_001165963.4(SCN1A):c.962C>G (p.Ser321Ter)
|
rs2105888495
|
|
NM_001165963.4(SCN1A):c.964+104_964+110del
|
rs200369264
|
|
NM_001165963.4(SCN1A):c.964+1G>C
|
rs1574263047
|
|
NM_001165963.4(SCN1A):c.964+5G>A
|
rs796052965
|
|
NM_001165963.4(SCN1A):c.964A>G (p.Arg322Gly)
|
|
|
NM_001165963.4(SCN1A):c.965-14_965-11del
|
|
|
NM_001165963.4(SCN1A):c.965-1G>A
|
rs794726824
|
|
NM_001165963.4(SCN1A):c.965-480T>C
|
|
|
NM_001165963.4(SCN1A):c.971A>G (p.His324Arg)
|
rs796053093
|
|
NM_001165963.4(SCN1A):c.971ATT[1] (p.Tyr325del)
|
rs1553548194
|
|
NM_001165963.4(SCN1A):c.982G>A (p.Glu328Lys)
|
|
|
NM_001165963.4(SCN1A):c.984G>C (p.Glu328Asp)
|
rs796052968
|
|
NM_001165963.4(SCN1A):c.985G>T (p.Gly329Cys)
|
rs781746113
|
|
NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val)
|
rs779184118
|
|
NM_001165963.4(SCN1A):c.993A>C (p.Leu331Phe)
|
rs1057524518
|
|
NM_001165963.4(SCN1A):c.995A>G (p.Asp332Gly)
|
rs796052969
|
|
NM_001165963.4(SCN1A):c.995A>T (p.Asp332Val)
|
|
|
NM_006920.6(SCN1A):c.4795G>T (p.Val1599Leu)
|
rs2105447473
|
|