NM_001165963.4(SCN1A):c.384-20G>C
|
rs192956852
|
0.00635
|
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.1811G>A (p.Arg604His)
|
rs121918769
|
0.00087
|
NM_001165963.4(SCN1A):c.2421C>T (p.Phe807=)
|
rs145101180
|
0.00062
|
NM_001165963.4(SCN1A):c.1378-3T>C
|
rs150964803
|
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.579C>T (p.Leu193=)
|
rs116478064
|
0.00014
|
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp)
|
rs148442069
|
0.00011
|
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.1440A>C (p.Ser480=)
|
rs201383347
|
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.2926A>C (p.Met976Leu)
|
rs773681556
|
0.00004
|
NM_001165963.4(SCN1A):c.429G>A (p.Val143=)
|
rs1050330603
|
0.00004
|
NM_001165963.4(SCN1A):c.136G>A (p.Glu46Lys)
|
rs769582667
|
0.00003
|
NM_001165963.4(SCN1A):c.144C>T (p.Gly48=)
|
rs886043534
|
0.00003
|
NM_001165963.4(SCN1A):c.3039A>G (p.Gln1013=)
|
rs780391343
|
0.00003
|
NM_001165963.4(SCN1A):c.890C>T (p.Thr297Ile)
|
rs121918771
|
0.00003
|
NM_001165963.4(SCN1A):c.1980T>G (p.Pro660=)
|
rs1379958414
|
0.00002
|
NM_001165963.4(SCN1A):c.2552A>G (p.Asn851Ser)
|
rs561912072
|
0.00002
|
NM_001165963.4(SCN1A):c.2715C>T (p.Ala905=)
|
rs778280690
|
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.1546G>A (p.Asp516Asn)
|
rs757923791
|
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.1910C>T (p.Ala637Val)
|
rs1266240114
|
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.2520G>T (p.Val840=)
|
rs757851017
|
0.00001
|
NM_001165963.4(SCN1A):c.2547C>T (p.Leu849=)
|
rs147360576
|
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.3074A>T (p.Tyr1025Phe)
|
rs752532497
|
0.00001
|
NM_001165963.4(SCN1A):c.559C>T (p.Arg187Trp)
|
rs1419611654
|
0.00001
|
NM_001165963.4(SCN1A):c.643T>C (p.Leu215=)
|
rs779837260
|
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
|
GRCh37/hg19 2q24.3(chr2:166915080-166915198)x1
|
|
|
NM_001165963.4(SCN1A):c.1028+5G>C
|
rs1553548057
|
|
NM_001165963.4(SCN1A):c.1072C>A (p.Pro358Thr)
|
rs121917923
|
|
NM_001165963.4(SCN1A):c.1091G>T (p.Ser364Ile)
|
rs752775574
|
|
NM_001165963.4(SCN1A):c.1096G>C (p.Asp366His)
|
rs750209664
|
|
NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter)
|
rs794726799
|
|
NM_001165963.4(SCN1A):c.1133T>A (p.Leu378Gln)
|
rs1698003832
|
|
NM_001165963.4(SCN1A):c.1141C>A (p.Gln381Lys)
|
rs1553547403
|
|
NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys)
|
rs121917929
|
|
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.1191A>C (p.Lys397Asn)
|
|
|
NM_001165963.4(SCN1A):c.1191A>G (p.Lys397=)
|
|
|
NM_001165963.4(SCN1A):c.1271T>C (p.Met424Thr)
|
rs1574234690
|
|
NM_001165963.4(SCN1A):c.1280A>C (p.Glu427Ala)
|
rs1697894901
|
|
NM_001165963.4(SCN1A):c.1303del (p.Glu435fs)
|
rs2105861548
|
|
NM_001165963.4(SCN1A):c.1312G>C (p.Glu438Gln)
|
|
|
NM_001165963.4(SCN1A):c.1323_1328del (p.Ala442_Glu443del)
|
rs1697886499
|
|
NM_001165963.4(SCN1A):c.1341G>A (p.Met447Ile)
|
rs2105861173
|
|
NM_001165963.4(SCN1A):c.1377G>A (p.Gln459=)
|
rs1697877323
|
|
NM_001165963.4(SCN1A):c.137_165del (p.Glu46fs)
|
rs1684678839
|
|
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.1539A>G (p.Glu513=)
|
rs587781144
|
|
NM_001165963.4(SCN1A):c.1548T>C (p.Asp516=)
|
rs1057524611
|
|
NM_001165963.4(SCN1A):c.1598del (p.Gly533fs)
|
rs1697640966
|
|
NM_001165963.4(SCN1A):c.1633T>G (p.Tyr545Asp)
|
rs1064794913
|
|
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter)
|
rs886039430
|
|
NM_001165963.4(SCN1A):c.1813_1822del (p.Arg605fs)
|
rs1697464108
|
|
NM_001165963.4(SCN1A):c.1850_1851del (p.Arg617fs)
|
|
|
NM_001165963.4(SCN1A):c.2011del (p.Glu670_Val671insTer)
|
|
|
NM_001165963.4(SCN1A):c.2044-5dup
|
rs549232924
|
|
NM_001165963.4(SCN1A):c.2095G>A (p.Val699Ile)
|
rs1260934774
|
|
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.2156T>A (p.Ile719Asn)
|
rs1553543839
|
|
NM_001165963.4(SCN1A):c.2177-6A>G
|
rs1559210650
|
|
NM_001165963.4(SCN1A):c.2208_2209del (p.Cys737fs)
|
rs1697164036
|
|
NM_001165963.4(SCN1A):c.2244G>A (p.Trp748Ter)
|
rs1553543340
|
|
NM_001165963.4(SCN1A):c.2336T>C (p.Val779Ala)
|
rs1261711145
|
|
NM_001165963.4(SCN1A):c.2345C>T (p.Thr782Ile)
|
rs2105827881
|
|
NM_001165963.4(SCN1A):c.2360T>C (p.Met787Thr)
|
rs773695263
|
|
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.2415+8T>C
|
rs1064797265
|
|
NM_001165963.4(SCN1A):c.2445G>A (p.Met815Ile)
|
|
|
NM_001165963.4(SCN1A):c.249C>T (p.Tyr83=)
|
|
|
NM_001165963.4(SCN1A):c.2510del (p.Gly837fs)
|
rs2105817078
|
|
NM_001165963.4(SCN1A):c.252T>A (p.Tyr84Ter)
|
rs2105982029
|
|
NM_001165963.4(SCN1A):c.2573T>C (p.Leu858Pro)
|
rs1696865258
|
|
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+3A>T
|
rs794726775
|
|
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.265-2137C>T
|
|
|
NM_001165963.4(SCN1A):c.2667T>C (p.Ala889=)
|
rs1206449277
|
|
NM_001165963.4(SCN1A):c.266del (p.Thr89fs)
|
rs1064797266
|
|
NM_001165963.4(SCN1A):c.2691G>C (p.Leu897Phe)
|
rs1574183148
|
|
NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys)
|
rs121918788
|
|
NM_001165963.4(SCN1A):c.2796G>C (p.Trp932Cys)
|
rs1553541303
|
|
NM_001165963.4(SCN1A):c.2816A>C (p.His939Pro)
|
rs398123589
|
|
NM_001165963.4(SCN1A):c.2836C>T (p.Arg946Cys)
|
rs121918775
|
|
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
|
|
|
NM_001165963.4(SCN1A):c.2846G>C (p.Cys949Ser)
|
rs1696624989
|
|
NM_001165963.4(SCN1A):c.2852A>G (p.Glu951Gly)
|
rs1574181209
|
|
NM_001165963.4(SCN1A):c.2885T>C (p.Val962Ala)
|
rs138858653
|
|
NM_001165963.4(SCN1A):c.2935G>A (p.Gly979Arg)
|
rs121918754
|
|
NM_001165963.4(SCN1A):c.2981C>T (p.Ser994Leu)
|
rs1574172286
|
|
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.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.382_383+4del
|
|
|
NM_001165963.4(SCN1A):c.416T>G (p.Leu139Trp)
|
rs1553552378
|
|
NM_001165963.4(SCN1A):c.442del (p.Ser148fs)
|
rs1699143102
|
|
NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln)
|
rs796053090
|
|
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.512del (p.Ile171fs)
|
rs2105902403
|
|
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.563A>G (p.Asp188Gly)
|
|
|
NM_001165963.4(SCN1A):c.566C>T (p.Pro189Leu)
|
rs2105901930
|
|
NM_001165963.4(SCN1A):c.594del (p.Thr199fs)
|
rs1698940903
|
|
NM_001165963.4(SCN1A):c.602+1G>A
|
|
|
NM_001165963.4(SCN1A):c.602+6_602+7dup
|
rs577627288
|
|
NM_001165963.4(SCN1A):c.626_694+31del
|
|
|
NM_001165963.4(SCN1A):c.633T>C (p.Asn211=)
|
|
|
NM_001165963.4(SCN1A):c.655A>G (p.Arg219Gly)
|
rs1553550574
|
|
NM_001165963.4(SCN1A):c.667G>C (p.Ala223Pro)
|
rs1553550552
|
|
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)
|
rs121917984
|
|
NM_001165963.4(SCN1A):c.700A>G (p.Lys234Glu)
|
rs1553549993
|
|
NM_001165963.4(SCN1A):c.717C>A (p.Ala239=)
|
rs759923734
|
|
NM_001165963.4(SCN1A):c.749T>A (p.Val250Glu)
|
rs1553549845
|
|
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.802C>T (p.Leu268=)
|
rs2105889931
|
|
NM_001165963.4(SCN1A):c.842C>T (p.Pro281Leu)
|
rs796052964
|
|
NM_001165963.4(SCN1A):c.919G>T (p.Glu307Ter)
|
rs1275890918
|
|
NM_001165963.4(SCN1A):c.949T>C (p.Tyr317His)
|
rs1553549461
|
|
NM_001165963.4(SCN1A):c.964+1G>C
|
rs1574263047
|
|
NM_001165963.4(SCN1A):c.964A>G (p.Arg322Gly)
|
|
|
NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val)
|
rs779184118
|
|
NM_001165963.4(SCN1A):c.995A>T (p.Asp332Val)
|
|
|