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.345T>C (p.Asn115=)
|
rs61741123
|
0.03029
|
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.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.2177-10C>T
|
rs199507113
|
0.00579
|
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.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.1000C>G (p.Leu334Val)
|
rs201870762
|
0.00030
|
NM_001165963.4(SCN1A):c.694+10A>G
|
rs373417440
|
0.00019
|
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.2946+19T>C
|
rs180873219
|
0.00008
|
NM_001165963.4(SCN1A):c.2177-29G>C
|
rs763828472
|
0.00006
|
NM_001165963.4(SCN1A):c.1029-12C>T
|
rs772513720
|
0.00001
|
NM_001165963.4(SCN1A):c.2236T>C (p.Leu746=)
|
rs753714341
|
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(chr2:166905375-166909104)x4
|
|
|
GRCh37/hg19 2q24.3(chr2:166905572-166911685)x3
|
|
|
GRCh37/hg19 2q24.3(chr2:166999968-167000966)x1
|
|
|
NM_001165963.4(SCN1A):c.1028+112C>A
|
rs77450394
|
|
NM_001165963.4(SCN1A):c.1377+92T>G
|
rs538921
|
|
NM_001165963.4(SCN1A):c.1378-152del
|
rs5836074
|
|
NM_001165963.4(SCN1A):c.1539A>G (p.Glu513=)
|
rs587781144
|
|
NM_001165963.4(SCN1A):c.2177-11dup
|
rs11394960
|
|
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+221_2589+224del
|
rs6147014
|
|
NM_001165963.4(SCN1A):c.265-2137C>T
|
|
|
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.602+269CA[3]
|
rs66512822
|
|
NM_001165963.4(SCN1A):c.602+6_602+7dup
|
rs577627288
|
|
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.964+104_964+110del
|
rs200369264
|
|