NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=)
|
rs114137271
|
0.00322
|
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln)
|
rs121918817
|
0.00154
|
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.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.579C>T (p.Leu193=)
|
rs116478064
|
0.00014
|
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.597A>G (p.Thr199=)
|
rs398123600
|
0.00010
|
NM_001165963.4(SCN1A):c.1814G>C (p.Arg605Thr)
|
rs374501252
|
0.00009
|
NM_001165963.4(SCN1A):c.2649C>T (p.Ile883=)
|
rs543436497
|
0.00008
|
NM_001165963.4(SCN1A):c.1810C>T (p.Arg604Cys)
|
rs148371904
|
0.00007
|
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.2176+11A>C
|
rs201604887
|
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.1457C>G (p.Ala486Gly)
|
rs777120925
|
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.2125C>G (p.Gln709Glu)
|
rs370037455
|
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.2590C>T (p.Leu864=)
|
rs140035595
|
0.00004
|
NM_001165963.4(SCN1A):c.2926A>C (p.Met976Leu)
|
rs773681556
|
0.00004
|
NM_001165963.4(SCN1A):c.875T>C (p.Ile292Thr)
|
rs766503699
|
0.00004
|
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.144C>T (p.Gly48=)
|
rs886043534
|
0.00003
|
NM_001165963.4(SCN1A):c.2143A>C (p.Ser715Arg)
|
rs1349978357
|
0.00003
|
NM_001165963.4(SCN1A):c.2201G>A (p.Cys734Tyr)
|
rs1247949520
|
0.00003
|
NM_001165963.4(SCN1A):c.2559A>C (p.Glu853Asp)
|
rs764292628
|
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.778G>A (p.Val260Ile)
|
rs775591652
|
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.115C>A (p.Pro39Thr)
|
rs968754992
|
0.00002
|
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.1988C>T (p.Pro663Leu)
|
rs370481828
|
0.00002
|
NM_001165963.4(SCN1A):c.2007A>G (p.Pro669=)
|
rs993370830
|
0.00002
|
NM_001165963.4(SCN1A):c.2085T>G (p.Ser695Arg)
|
rs764865083
|
0.00002
|
NM_001165963.4(SCN1A):c.2234T>G (p.Phe745Cys)
|
rs778852888
|
0.00002
|
NM_001165963.4(SCN1A):c.2552A>G (p.Asn851Ser)
|
rs561912072
|
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.3012T>C (p.Asp1004=)
|
rs748537030
|
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.886A>G (p.Ile296Val)
|
rs373772491
|
0.00002
|
NM_001165963.4(SCN1A):c.972T>C (p.His324=)
|
rs886042203
|
0.00002
|
NM_001165963.4(SCN1A):c.1040A>G (p.Glu347Gly)
|
rs904247739
|
0.00001
|
NM_001165963.4(SCN1A):c.1049T>C (p.Met350Thr)
|
rs1283627130
|
0.00001
|
NM_001165963.4(SCN1A):c.1054G>A (p.Val352Met)
|
rs779188944
|
0.00001
|
NM_001165963.4(SCN1A):c.1170+3G>A
|
rs1289808926
|
0.00001
|
NM_001165963.4(SCN1A):c.1171-19C>A
|
rs929127955
|
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.1195T>C (p.Tyr399His)
|
rs796052974
|
0.00001
|
NM_001165963.4(SCN1A):c.125A>C (p.Lys42Thr)
|
rs760777182
|
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.1366G>C (p.Glu456Gln)
|
rs1375242070
|
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.1579G>A (p.Asp527Asn)
|
rs1191091069
|
0.00001
|
NM_001165963.4(SCN1A):c.1603C>T (p.Arg535Cys)
|
rs761062389
|
0.00001
|
NM_001165963.4(SCN1A):c.1663-3T>C
|
rs766418091
|
0.00001
|
NM_001165963.4(SCN1A):c.1668G>T (p.Leu556Phe)
|
rs762975379
|
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.1757C>T (p.Ser586Phe)
|
rs1697487602
|
0.00001
|
NM_001165963.4(SCN1A):c.1779T>G (p.Asp593Glu)
|
rs1201949487
|
0.00001
|
NM_001165963.4(SCN1A):c.1818T>C (p.Asp606=)
|
rs727504141
|
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.1905T>G (p.Phe635Leu)
|
rs1489623233
|
0.00001
|
NM_001165963.4(SCN1A):c.1910C>T (p.Ala637Val)
|
rs1266240114
|
0.00001
|
NM_001165963.4(SCN1A):c.1933G>T (p.Val645Leu)
|
rs747681959
|
0.00001
|
NM_001165963.4(SCN1A):c.1982C>T (p.Thr661Ile)
|
rs780340848
|
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.203T>C (p.Ile68Thr)
|
rs758871507
|
0.00001
|
NM_001165963.4(SCN1A):c.2043T>C (p.Asn681=)
|
rs754934003
|
0.00001
|
NM_001165963.4(SCN1A):c.2102T>G (p.Met701Arg)
|
rs763445773
|
0.00001
|
NM_001165963.4(SCN1A):c.2135G>A (p.Arg712Gln)
|
rs138799232
|
0.00001
|
NM_001165963.4(SCN1A):c.2215T>C (p.Tyr739His)
|
rs768736409
|
0.00001
|
NM_001165963.4(SCN1A):c.2229C>G (p.Asn743Lys)
|
rs745738437
|
0.00001
|
NM_001165963.4(SCN1A):c.2240T>C (p.Ile747Thr)
|
rs980156920
|
0.00001
|
NM_001165963.4(SCN1A):c.2294T>C (p.Val765Ala)
|
rs1302724105
|
0.00001
|
NM_001165963.4(SCN1A):c.2353A>T (p.Met785Leu)
|
rs767045134
|
0.00001
|
NM_001165963.4(SCN1A):c.2416-10T>G
|
rs1696892038
|
0.00001
|
NM_001165963.4(SCN1A):c.2468A>G (p.Asp823Gly)
|
rs1035633632
|
0.00001
|
NM_001165963.4(SCN1A):c.2474A>C (p.Tyr825Ser)
|
rs780963881
|
0.00001
|
NM_001165963.4(SCN1A):c.2477A>G (p.Tyr826Cys)
|
rs1422284356
|
0.00001
|
NM_001165963.4(SCN1A):c.2486A>T (p.Gln829Leu)
|
rs1299251889
|
0.00001
|
NM_001165963.4(SCN1A):c.2508C>T (p.Asp836=)
|
rs575554223
|
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.2522C>T (p.Thr841Met)
|
rs750901301
|
0.00001
|
NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His)
|
rs398123588
|
0.00001
|
NM_001165963.4(SCN1A):c.257A>G (p.Asn86Ser)
|
rs1004366186
|
0.00001
|
NM_001165963.4(SCN1A):c.2584C>A (p.Arg862=)
|
rs397514459
|
0.00001
|
NM_001165963.4(SCN1A):c.25C>G (p.Pro9Ala)
|
rs757688309
|
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.2784A>C (p.Gln928His)
|
rs138376436
|
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.418A>G (p.Thr140Ala)
|
rs796052956
|
0.00001
|
NM_001165963.4(SCN1A):c.452C>T (p.Pro151Leu)
|
rs1699141193
|
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.661C>G (p.Leu221Val)
|
rs886039456
|
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.853G>T (p.Ala285Ser)
|
rs777386001
|
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
|
NM_001165963.4(SCN1A):c.97A>G (p.Lys33Glu)
|
rs375913842
|
0.00001
|
NC_000002.11:g.(?_166856213)_(166868812_?)dup
|
|
|
NC_000002.12:g.(?_166036028)_(166039616_?)dup
|
|
|
NM_001165963.4(SCN1A):c.-142G>A
|
rs2106003538
|
|
NM_001165963.4(SCN1A):c.1006T>G (p.Cys336Gly)
|
rs398123578
|
|
NM_001165963.4(SCN1A):c.1012A>T (p.Asn338Tyr)
|
|
|
NM_001165963.4(SCN1A):c.1027G>A (p.Gly343Ser)
|
rs1553548063
|
|
NM_001165963.4(SCN1A):c.1028+5G>C
|
rs1553548057
|
|
NM_001165963.4(SCN1A):c.1028+6T>C
|
rs1277925945
|
|
NM_001165963.4(SCN1A):c.1029-3C>T
|
|
|
NM_001165963.4(SCN1A):c.1029-5T>G
|
rs2105868433
|
|
NM_001165963.4(SCN1A):c.1029-7C>G
|
|
|
NM_001165963.4(SCN1A):c.1029C>G (p.Gly343=)
|
rs1698032277
|
|
NM_001165963.4(SCN1A):c.1033T>A (p.Cys345Ser)
|
|
|
NM_001165963.4(SCN1A):c.1039G>A (p.Glu347Lys)
|
|
|
NM_001165963.4(SCN1A):c.1043G>T (p.Gly348Val)
|
rs2105868181
|
|
NM_001165963.4(SCN1A):c.1049T>A (p.Met350Lys)
|
rs1283627130
|
|
NM_001165963.4(SCN1A):c.1051T>A (p.Cys351Ser)
|
rs2105868016
|
|
NM_001165963.4(SCN1A):c.1060G>C (p.Ala354Pro)
|
rs1698022280
|
|
NM_001165963.4(SCN1A):c.1064G>T (p.Gly355Val)
|
rs1698021918
|
|
NM_001165963.4(SCN1A):c.1066A>G (p.Arg356Gly)
|
rs121917920
|
|
NM_001165963.4(SCN1A):c.1076A>G (p.Asn359Ser)
|
rs794726713
|
|
NM_001165963.4(SCN1A):c.1081G>A (p.Gly361Ser)
|
|
|
NM_001165963.4(SCN1A):c.1082G>A (p.Gly361Asp)
|
rs1553547528
|
|
NM_001165963.4(SCN1A):c.1085A>G (p.Tyr362Cys)
|
|
|
NM_001165963.4(SCN1A):c.1088C>A (p.Thr363Lys)
|
|
|
NM_001165963.4(SCN1A):c.1091G>A (p.Ser364Asn)
|
|
|
NM_001165963.4(SCN1A):c.1091G>C (p.Ser364Thr)
|
rs752775574
|
|
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.1094T>C (p.Phe365Ser)
|
rs1553547493
|
|
NM_001165963.4(SCN1A):c.1095T>C (p.Phe365=)
|
|
|
NM_001165963.4(SCN1A):c.1100C>T (p.Thr367Ile)
|
rs1698011519
|
|
NM_001165963.4(SCN1A):c.1101C>T (p.Thr367=)
|
|
|
NM_001165963.4(SCN1A):c.1110G>T (p.Trp370Cys)
|
|
|
NM_001165963.4(SCN1A):c.1117T>G (p.Leu373Val)
|
rs1698008539
|
|
NM_001165963.4(SCN1A):c.1132C>T (p.Leu378=)
|
|
|
NM_001165963.4(SCN1A):c.1139C>T (p.Thr380Ile)
|
|
|
NM_001165963.4(SCN1A):c.1141C>A (p.Gln381Lys)
|
rs1553547403
|
|
NM_001165963.4(SCN1A):c.1166A>C (p.Gln389Pro)
|
rs2105866610
|
|
NM_001165963.4(SCN1A):c.1167A>G (p.Gln389=)
|
|
|
NM_001165963.4(SCN1A):c.1170+3_1170+4delinsTT
|
rs2105866527
|
|
NM_001165963.4(SCN1A):c.1170+5G>C
|
rs1057524737
|
|
NM_001165963.4(SCN1A):c.1170+5G>T
|
rs1057524737
|
|
NM_001165963.4(SCN1A):c.1171-3C>T
|
|
|
NM_001165963.4(SCN1A):c.1171-6T>C
|
|
|
NM_001165963.4(SCN1A):c.1171A>T (p.Thr391Ser)
|
rs1697917375
|
|
NM_001165963.4(SCN1A):c.1175T>C (p.Leu392Ser)
|
rs2105862926
|
|
NM_001165963.4(SCN1A):c.1181_1182delinsGA (p.Ala394Gly)
|
rs1559226096
|
|
NM_001165963.4(SCN1A):c.1191A>C (p.Lys397Asn)
|
|
|
NM_001165963.4(SCN1A):c.11C>T (p.Thr4Ile)
|
|
|
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.1205T>G (p.Phe402Cys)
|
|
|
NM_001165963.4(SCN1A):c.1206T>A (p.Phe402Leu)
|
|
|
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.1228G>C (p.Gly410Arg)
|
rs1574235136
|
|
NM_001165963.4(SCN1A):c.1253T>C (p.Ile418Thr)
|
rs1697902111
|
|
NM_001165963.4(SCN1A):c.1258G>C (p.Ala420Pro)
|
rs2105862170
|
|
NM_001165963.4(SCN1A):c.1259C>A (p.Ala420Asp)
|
rs794726826
|
|
NM_001165963.4(SCN1A):c.1259C>T (p.Ala420Val)
|
rs794726826
|
|
NM_001165963.4(SCN1A):c.1262T>C (p.Val421Ala)
|
rs796052975
|
|
NM_001165963.4(SCN1A):c.1271T>C (p.Met424Thr)
|
rs1574234690
|
|
NM_001165963.4(SCN1A):c.1272G>A (p.Met424Ile)
|
rs1697897988
|
|
NM_001165963.4(SCN1A):c.1274C>T (p.Ala425Val)
|
rs1697897304
|
|
NM_001165963.4(SCN1A):c.127G>C (p.Asp43His)
|
|
|
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.1327G>C (p.Glu443Gln)
|
rs1300925640
|
|
NM_001165963.4(SCN1A):c.1329A>G (p.Glu443=)
|
rs1553546728
|
|
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.134A>G (p.Asp45Gly)
|
rs1559284606
|
|
NM_001165963.4(SCN1A):c.1351C>T (p.Leu451Phe)
|
|
|
NM_001165963.4(SCN1A):c.135C>T (p.Asp45=)
|
rs201985242
|
|
NM_001165963.4(SCN1A):c.1376A>G (p.Gln459Arg)
|
rs2105860766
|
|
NM_001165963.4(SCN1A):c.1377+20_1377+21delinsAT
|
|
|
NM_001165963.4(SCN1A):c.1377+3A>C
|
rs1060502191
|
|
NM_001165963.4(SCN1A):c.1377+3A>G
|
|
|
NM_001165963.4(SCN1A):c.1377+6G>T
|
rs1574233195
|
|
NM_001165963.4(SCN1A):c.1377G>A (p.Gln459=)
|
rs1697877323
|
|
NM_001165963.4(SCN1A):c.1378-12_1378-8del
|
|
|
NM_001165963.4(SCN1A):c.1378-3T>G
|
|
|
NM_001165963.4(SCN1A):c.1378-4dup
|
|
|
NM_001165963.4(SCN1A):c.1393A>G (p.Thr465Ala)
|
rs2105852658
|
|
NM_001165963.4(SCN1A):c.1396G>C (p.Ala466Pro)
|
rs762652516
|
|
NM_001165963.4(SCN1A):c.1404A>C (p.Glu468Asp)
|
rs747528512
|
|
NM_001165963.4(SCN1A):c.140A>G (p.Asn47Ser)
|
|
|
NM_001165963.4(SCN1A):c.1411A>G (p.Arg471Gly)
|
rs1553545793
|
|
NM_001165963.4(SCN1A):c.1423_1424delinsCT (p.Ala475Leu)
|
rs2105852411
|
|
NM_001165963.4(SCN1A):c.1429G>C (p.Gly477Arg)
|
rs1553545777
|
|
NM_001165963.4(SCN1A):c.1436T>C (p.Leu479Pro)
|
rs1697679015
|
|
NM_001165963.4(SCN1A):c.1468A>C (p.Ser490Arg)
|
rs2105852041
|
|
NM_001165963.4(SCN1A):c.1477A>C (p.Ser493Arg)
|
rs1574225131
|
|
NM_001165963.4(SCN1A):c.1478G>C (p.Ser493Thr)
|
rs1697671710
|
|
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.1493G>C (p.Arg498Thr)
|
rs1448731908
|
|
NM_001165963.4(SCN1A):c.1508A>G (p.Lys503Arg)
|
|
|
NM_001165963.4(SCN1A):c.1511G>C (p.Arg504Thr)
|
|
|
NM_001165963.4(SCN1A):c.1511G>T (p.Arg504Ile)
|
rs2105851522
|
|
NM_001165963.4(SCN1A):c.1512A>C (p.Arg504Ser)
|
rs1233541206
|
|
NM_001165963.4(SCN1A):c.1522G>C (p.Glu508Gln)
|
rs781087488
|
|
NM_001165963.4(SCN1A):c.1531G>C (p.Gly511Arg)
|
rs1559220753
|
|
NM_001165963.4(SCN1A):c.1538A>G (p.Glu513Gly)
|
rs1553545586
|
|
NM_001165963.4(SCN1A):c.1548T>G (p.Asp516Glu)
|
rs1057524611
|
|
NM_001165963.4(SCN1A):c.154A>G (p.Asn52Asp)
|
|
|
NM_001165963.4(SCN1A):c.1556A>G (p.Glu519Gly)
|
|
|
NM_001165963.4(SCN1A):c.1567T>C (p.Ser523Pro)
|
|
|
NM_001165963.4(SCN1A):c.1571A>T (p.Glu524Val)
|
rs1406176906
|
|
NM_001165963.4(SCN1A):c.1572A>T (p.Glu524Asp)
|
|
|
NM_001165963.4(SCN1A):c.1573T>A (p.Ser525Thr)
|
rs2105850864
|
|
NM_001165963.4(SCN1A):c.1573T>C (p.Ser525Pro)
|
|
|
NM_001165963.4(SCN1A):c.1586T>C (p.Ile529Thr)
|
rs1166000241
|
|
NM_001165963.4(SCN1A):c.1588A>G (p.Arg530Gly)
|
|
|
NM_001165963.4(SCN1A):c.1594A>G (p.Lys532Glu)
|
|
|
NM_001165963.4(SCN1A):c.1604G>C (p.Arg535Pro)
|
rs184524479
|
|
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.1633T>G (p.Tyr545Asp)
|
rs1064794913
|
|
NM_001165963.4(SCN1A):c.1648TCC[1] (p.Ser551del)
|
rs1391693620
|
|
NM_001165963.4(SCN1A):c.1657C>T (p.His553Tyr)
|
rs1697628486
|
|
NM_001165963.4(SCN1A):c.1659C>A (p.His553Gln)
|
|
|
NM_001165963.4(SCN1A):c.1662+7C>G
|
rs398123583
|
|
NM_001165963.4(SCN1A):c.1678C>G (p.Arg560Gly)
|
|
|
NM_001165963.4(SCN1A):c.1694C>T (p.Ser565Leu)
|
|
|
NM_001165963.4(SCN1A):c.1700G>A (p.Arg567Lys)
|
rs1176739172
|
|
NM_001165963.4(SCN1A):c.1700G>C (p.Arg567Thr)
|
rs1176739172
|
|
NM_001165963.4(SCN1A):c.1707T>G (p.Asn569Lys)
|
rs778432457
|
|
NM_001165963.4(SCN1A):c.1708A>T (p.Ser570Cys)
|
rs2105844454
|
|
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.1719C>A (p.Ser573Arg)
|
|
|
NM_001165963.4(SCN1A):c.1719C>G (p.Ser573Arg)
|
rs748767737
|
|
NM_001165963.4(SCN1A):c.1727G>A (p.Ser576Asn)
|
rs1697492585
|
|
NM_001165963.4(SCN1A):c.1739G>T (p.Arg580Leu)
|
|
|
NM_001165963.4(SCN1A):c.1750G>A (p.Val584Met)
|
|
|
NM_001165963.4(SCN1A):c.1759G>A (p.Glu587Lys)
|
rs1057524494
|
|
NM_001165963.4(SCN1A):c.1765G>A (p.Asp589Asn)
|
rs781481818
|
|
NM_001165963.4(SCN1A):c.1770C>A (p.Phe590Leu)
|
|
|
NM_001165963.4(SCN1A):c.1771G>A (p.Ala591Thr)
|
rs1437209028
|
|
NM_001165963.4(SCN1A):c.1780G>A (p.Glu594Lys)
|
|
|
NM_001165963.4(SCN1A):c.1787_1789del (p.Ser596del)
|
rs796053061
|
|
NM_001165963.4(SCN1A):c.1797G>T (p.Glu599Asp)
|
rs145035963
|
|
NM_001165963.4(SCN1A):c.1801A>G (p.Asn601Asp)
|
rs1697474227
|
|
NM_001165963.4(SCN1A):c.1805A>G (p.Glu602Gly)
|
rs2105843593
|
|
NM_001165963.4(SCN1A):c.1808G>A (p.Ser603Asn)
|
rs1697471204
|
|
NM_001165963.4(SCN1A):c.1809C>A (p.Ser603Arg)
|
|
|
NM_001165963.4(SCN1A):c.1817A>G (p.Asp606Gly)
|
|
|
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.1822T>A (p.Leu608Met)
|
|
|
NM_001165963.4(SCN1A):c.1825T>C (p.Phe609Leu)
|
rs2105843262
|
|
NM_001165963.4(SCN1A):c.1828G>A (p.Val610Met)
|
|
|
NM_001165963.4(SCN1A):c.1838G>A (p.Arg613Gln)
|
rs755323236
|
|
NM_001165963.4(SCN1A):c.1840C>T (p.His614Tyr)
|
|
|
NM_001165963.4(SCN1A):c.1842C>G (p.His614Gln)
|
|
|
NM_001165963.4(SCN1A):c.1843G>A (p.Gly615Arg)
|
|
|
NM_001165963.4(SCN1A):c.1849A>G (p.Arg617Gly)
|
rs1553544701
|
|
NM_001165963.4(SCN1A):c.1850G>A (p.Arg617Lys)
|
|
|
NM_001165963.4(SCN1A):c.1850_1851delinsAT (p.Arg617Asn)
|
rs796053063
|
|
NM_001165963.4(SCN1A):c.1852C>A (p.Arg618Ser)
|
|
|
NM_001165963.4(SCN1A):c.1858A>T (p.Ser620Cys)
|
|
|
NM_001165963.4(SCN1A):c.1865T>G (p.Leu622Arg)
|
|
|
NM_001165963.4(SCN1A):c.1867A>C (p.Ser623Arg)
|
|
|
NM_001165963.4(SCN1A):c.1873A>G (p.Thr625Ala)
|
rs2105842681
|
|
NM_001165963.4(SCN1A):c.1876A>T (p.Ser626Cys)
|
rs121917990
|
|
NM_001165963.4(SCN1A):c.1889G>C (p.Arg630Pro)
|
rs145670933
|
|
NM_001165963.4(SCN1A):c.1892T>C (p.Met631Thr)
|
|
|
NM_001165963.4(SCN1A):c.1898C>T (p.Ala633Val)
|
rs1574215846
|
|
NM_001165963.4(SCN1A):c.1903T>C (p.Phe635Leu)
|
|
|
NM_001165963.4(SCN1A):c.1906C>T (p.Pro636Ser)
|
|
|
NM_001165963.4(SCN1A):c.1915G>A (p.Gly639Arg)
|
|
|
NM_001165963.4(SCN1A):c.1920G>T (p.Lys640Asn)
|
rs1697434336
|
|
NM_001165963.4(SCN1A):c.1923G>A (p.Met641Ile)
|
rs2105842235
|
|
NM_001165963.4(SCN1A):c.1936G>A (p.Asp646Asn)
|
rs1553544581
|
|
NM_001165963.4(SCN1A):c.1940G>C (p.Cys647Ser)
|
|
|
NM_001165963.4(SCN1A):c.1948G>A (p.Val650Met)
|
rs398123586
|
|
NM_001165963.4(SCN1A):c.1959G>C (p.Leu653Phe)
|
rs1697427696
|
|
NM_001165963.4(SCN1A):c.1961T>C (p.Val654Ala)
|
rs1697427369
|
|
NM_001165963.4(SCN1A):c.1967G>T (p.Gly656Val)
|
|
|
NM_001165963.4(SCN1A):c.1975G>A (p.Val659Ile)
|
rs1559215483
|
|
NM_001165963.4(SCN1A):c.1976T>C (p.Val659Ala)
|
|
|
NM_001165963.4(SCN1A):c.1978C>A (p.Pro660Thr)
|
|
|
NM_001165963.4(SCN1A):c.1997A>G (p.Gln666Arg)
|
|
|
NM_001165963.4(SCN1A):c.200A>T (p.Asp67Val)
|
rs2105982601
|
|
NM_001165963.4(SCN1A):c.2011G>T (p.Val671Leu)
|
|
|
NM_001165963.4(SCN1A):c.2012T>C (p.Val671Ala)
|
rs1574214843
|
|
NM_001165963.4(SCN1A):c.2015T>C (p.Ile672Thr)
|
|
|
NM_001165963.4(SCN1A):c.2020G>C (p.Asp674His)
|
rs1574214734
|
|
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+6_2043+9del
|
rs794727024
|
|
NM_001165963.4(SCN1A):c.2043T>G (p.Asn681Lys)
|
rs754934003
|
|
NM_001165963.4(SCN1A):c.2044-14A>T
|
rs537722606
|
|
NM_001165963.4(SCN1A):c.2044-20_2051dup
|
rs1288412817
|
|
NM_001165963.4(SCN1A):c.2044-5dup
|
rs549232924
|
|
NM_001165963.4(SCN1A):c.2044G>A (p.Gly682Arg)
|
rs1398374184
|
|
NM_001165963.4(SCN1A):c.2045G>T (p.Gly682Val)
|
rs1697296215
|
|
NM_001165963.4(SCN1A):c.2048C>A (p.Thr683Lys)
|
|
|
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.2062G>A (p.Glu688Lys)
|
|
|
NM_001165963.4(SCN1A):c.2066T>C (p.Met689Thr)
|
rs1559213016
|
|
NM_001165963.4(SCN1A):c.2066T>G (p.Met689Arg)
|
|
|
NM_001165963.4(SCN1A):c.2068A>G (p.Arg690Gly)
|
rs939867202
|
|
NM_001165963.4(SCN1A):c.2078G>A (p.Arg693Lys)
|
|
|
NM_001165963.4(SCN1A):c.208C>A (p.Pro70Thr)
|
rs2105982466
|
|
NM_001165963.4(SCN1A):c.2110C>G (p.Leu704Val)
|
rs2105835263
|
|
NM_001165963.4(SCN1A):c.2111T>C (p.Leu704Pro)
|
rs1131691747
|
|
NM_001165963.4(SCN1A):c.2117A>T (p.Asp706Val)
|
rs1574209133
|
|
NM_001165963.4(SCN1A):c.2120C>T (p.Pro707Leu)
|
|
|
NM_001165963.4(SCN1A):c.2122T>C (p.Ser708Pro)
|
rs1271652586
|
|
NM_001165963.4(SCN1A):c.2123C>T (p.Ser708Phe)
|
|
|
NM_001165963.4(SCN1A):c.2137G>A (p.Ala713Thr)
|
|
|
NM_001165963.4(SCN1A):c.2140A>G (p.Met714Val)
|
rs1697282256
|
|
NM_001165963.4(SCN1A):c.2141T>C (p.Met714Thr)
|
|
|
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.215T>C (p.Met72Thr)
|
|
|
NM_001165963.4(SCN1A):c.2164A>C (p.Asn722His)
|
rs1341631584
|
|
NM_001165963.4(SCN1A):c.2164A>G (p.Asn722Asp)
|
rs1341631584
|
|
NM_001165963.4(SCN1A):c.2167_2176+13dup
|
|
|
NM_001165963.4(SCN1A):c.2168C>T (p.Thr723Ile)
|
|
|
NM_001165963.4(SCN1A):c.2170G>A (p.Val724Ile)
|
rs771260698
|
|
NM_001165963.4(SCN1A):c.2175A>C (p.Glu725Asp)
|
|
|
NM_001165963.4(SCN1A):c.2177-10_2177-9insA
|
rs1553543440
|
|
NM_001165963.4(SCN1A):c.2177-2A>T
|
rs1436792531
|
|
NM_001165963.4(SCN1A):c.2177-4C>A
|
|
|
NM_001165963.4(SCN1A):c.2177-6A>G
|
rs1559210650
|
|
NM_001165963.4(SCN1A):c.2178A>T (p.Glu726Asp)
|
rs1697170377
|
|
NM_001165963.4(SCN1A):c.2183A>G (p.Glu728Gly)
|
|
|
NM_001165963.4(SCN1A):c.2191A>G (p.Arg731Gly)
|
rs2105829492
|
|
NM_001165963.4(SCN1A):c.2192G>T (p.Arg731Met)
|
|
|
NM_001165963.4(SCN1A):c.2203C>G (p.Pro735Ala)
|
|
|
NM_001165963.4(SCN1A):c.2219A>T (p.Lys740Ile)
|
|
|
NM_001165963.4(SCN1A):c.2230A>G (p.Ile744Val)
|
rs2105829122
|
|
NM_001165963.4(SCN1A):c.2245G>T (p.Asp749Tyr)
|
rs1697156587
|
|
NM_001165963.4(SCN1A):c.2247C>G (p.Asp749Glu)
|
rs1697155906
|
|
NM_001165963.4(SCN1A):c.2248T>A (p.Cys750Ser)
|
|
|
NM_001165963.4(SCN1A):c.2248T>G (p.Cys750Gly)
|
|
|
NM_001165963.4(SCN1A):c.2252C>T (p.Ser751Phe)
|
rs2105828879
|
|
NM_001165963.4(SCN1A):c.2255C>T (p.Pro752Leu)
|
rs1553543331
|
|
NM_001165963.4(SCN1A):c.2257T>C (p.Tyr753His)
|
|
|
NM_001165963.4(SCN1A):c.2262G>C (p.Trp754Cys)
|
rs1553543323
|
|
NM_001165963.4(SCN1A):c.2266A>G (p.Lys756Glu)
|
rs1426666349
|
|
NM_001165963.4(SCN1A):c.2269G>A (p.Val757Met)
|
rs1697152393
|
|
NM_001165963.4(SCN1A):c.226C>T (p.Pro76Ser)
|
rs1574371737
|
|
NM_001165963.4(SCN1A):c.2278G>T (p.Val760Phe)
|
rs1574203036
|
|
NM_001165963.4(SCN1A):c.2284A>G (p.Asn762Asp)
|
rs2105828579
|
|
NM_001165963.4(SCN1A):c.2285A>T (p.Asn762Ile)
|
|
|
NM_001165963.4(SCN1A):c.2287C>A (p.Leu763Met)
|
|
|
NM_001165963.4(SCN1A):c.2289G>A (p.Leu763=)
|
rs1697149654
|
|
NM_001165963.4(SCN1A):c.2292T>A (p.Val764=)
|
rs6432860
|
|
NM_001165963.4(SCN1A):c.2292_2293inv (p.Val765Met)
|
|
|
NM_001165963.4(SCN1A):c.2293G>A (p.Val765Met)
|
|
|
NM_001165963.4(SCN1A):c.2297T>G (p.Met766Arg)
|
rs2105828429
|
|
NM_001165963.4(SCN1A):c.2300A>G (p.Asp767Gly)
|
|
|
NM_001165963.4(SCN1A):c.2303C>T (p.Pro768Leu)
|
rs794726766
|
|
NM_001165963.4(SCN1A):c.2310T>A (p.Val770=)
|
rs1697144683
|
|
NM_001165963.4(SCN1A):c.2311G>A (p.Asp771Asn)
|
|
|
NM_001165963.4(SCN1A):c.2330G>A (p.Cys777Tyr)
|
rs2105828112
|
|
NM_001165963.4(SCN1A):c.2332A>G (p.Ile778Val)
|
rs2105828062
|
|
NM_001165963.4(SCN1A):c.2336T>C (p.Val779Ala)
|
rs1261711145
|
|
NM_001165963.4(SCN1A):c.2344A>T (p.Thr782Ser)
|
rs1574202324
|
|
NM_001165963.4(SCN1A):c.2360T>C (p.Met787Thr)
|
rs773695263
|
|
NM_001165963.4(SCN1A):c.2366A>T (p.His789Leu)
|
|
|
NM_001165963.4(SCN1A):c.2371C>G (p.Pro791Ala)
|
rs1697132427
|
|
NM_001165963.4(SCN1A):c.2372C>A (p.Pro791Gln)
|
|
|
NM_001165963.4(SCN1A):c.2372C>T (p.Pro791Leu)
|
rs1697132063
|
|
NM_001165963.4(SCN1A):c.2374A>G (p.Met792Val)
|
|
|
NM_001165963.4(SCN1A):c.2378C>A (p.Thr793Lys)
|
rs762038032
|
|
NM_001165963.4(SCN1A):c.2380G>A (p.Asp794Asn)
|
rs1360811002
|
|
NM_001165963.4(SCN1A):c.2380G>C (p.Asp794His)
|
|
|
NM_001165963.4(SCN1A):c.2385T>G (p.His795Gln)
|
rs1334303970
|
|
NM_001165963.4(SCN1A):c.2389A>G (p.Asn797Asp)
|
|
|
NM_001165963.4(SCN1A):c.238C>G (p.Leu80Val)
|
rs2105982158
|
|
NM_001165963.4(SCN1A):c.2390A>G (p.Asn797Ser)
|
|
|
NM_001165963.4(SCN1A):c.2392A>G (p.Asn798Asp)
|
rs2105827436
|
|
NM_001165963.4(SCN1A):c.2395G>A (p.Val799Met)
|
|
|
NM_001165963.4(SCN1A):c.2399T>C (p.Leu800Pro)
|
rs2105827389
|
|
NM_001165963.4(SCN1A):c.23C>T (p.Pro8Leu)
|
|
|
NM_001165963.4(SCN1A):c.2402C>T (p.Thr801Ile)
|
rs2105827373
|
|
NM_001165963.4(SCN1A):c.2403A>G (p.Thr801=)
|
|
|
NM_001165963.4(SCN1A):c.2404G>A (p.Val802Ile)
|
rs1057518467
|
|
NM_001165963.4(SCN1A):c.2413T>G (p.Leu805Val)
|
|
|
NM_001165963.4(SCN1A):c.2415+16G>A
|
|
|
NM_001165963.4(SCN1A):c.2415+3_2415+24del
|
rs1553543127
|
|
NM_001165963.4(SCN1A):c.2415+4A>G
|
rs1553543148
|
|
NM_001165963.4(SCN1A):c.2415+8T>C
|
rs1064797265
|
|
NM_001165963.4(SCN1A):c.2415G>T (p.Leu805Phe)
|
rs1697125571
|
|
NM_001165963.4(SCN1A):c.2416-35_2419dup
|
rs1696890186
|
|
NM_001165963.4(SCN1A):c.2416-6T>G
|
rs2105817829
|
|
NM_001165963.4(SCN1A):c.2420T>A (p.Phe807Tyr)
|
|
|
NM_001165963.4(SCN1A):c.2422A>C (p.Thr808Pro)
|
|
|
NM_001165963.4(SCN1A):c.242A>G (p.Asp81Gly)
|
rs1684663181
|
|
NM_001165963.4(SCN1A):c.2431T>G (p.Phe811Val)
|
|
|
NM_001165963.4(SCN1A):c.2437G>A (p.Ala813Thr)
|
|
|
NM_001165963.4(SCN1A):c.2443_2445del (p.Met815del)
|
rs1696886277
|
|
NM_001165963.4(SCN1A):c.2445G>A (p.Met815Ile)
|
|
|
NM_001165963.4(SCN1A):c.244C>T (p.Pro82Ser)
|
|
|
NM_001165963.4(SCN1A):c.2459T>C (p.Ile820Thr)
|
rs886055045
|
|
NM_001165963.4(SCN1A):c.245C>T (p.Pro82Leu)
|
rs2105982111
|
|
NM_001165963.4(SCN1A):c.2462C>T (p.Ala821Val)
|
rs2105817446
|
|
NM_001165963.4(SCN1A):c.2470C>A (p.Pro824Thr)
|
|
|
NM_001165963.4(SCN1A):c.2474A>G (p.Tyr825Cys)
|
|
|
NM_001165963.4(SCN1A):c.2486A>G (p.Gln829Arg)
|
|
|
NM_001165963.4(SCN1A):c.2496G>T (p.Trp832Cys)
|
rs1553542309
|
|
NM_001165963.4(SCN1A):c.2504T>C (p.Phe835Ser)
|
rs796052981
|
|
NM_001165963.4(SCN1A):c.2508C>A (p.Asp836Glu)
|
|
|
NM_001165963.4(SCN1A):c.2510G>A (p.Gly837Asp)
|
|
|
NM_001165963.4(SCN1A):c.2515_2517del (p.Ile839del)
|
rs2105817035
|
|
NM_001165963.4(SCN1A):c.2516T>C (p.Ile839Thr)
|
rs2105817051
|
|
NM_001165963.4(SCN1A):c.2518G>A (p.Val840Met)
|
rs1574192730
|
|
NM_001165963.4(SCN1A):c.2531T>G (p.Leu844Arg)
|
|
|
NM_001165963.4(SCN1A):c.253A>G (p.Ile85Val)
|
rs1574371287
|
|
NM_001165963.4(SCN1A):c.2548G>A (p.Ala850Thr)
|
|
|
NM_001165963.4(SCN1A):c.2552A>T (p.Asn851Ile)
|
rs561912072
|
|
NM_001165963.4(SCN1A):c.2554G>A (p.Val852Met)
|
rs1057524206
|
|
NM_001165963.4(SCN1A):c.2557G>A (p.Glu853Lys)
|
|
|
NM_001165963.4(SCN1A):c.256A>C (p.Asn86His)
|
|
|
NM_001165963.4(SCN1A):c.2570T>C (p.Val857Ala)
|
|
|
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln)
|
rs121918785
|
|
NM_001165963.4(SCN1A):c.2589+7A>G
|
|
|
NM_001165963.4(SCN1A):c.2590C>A (p.Leu864Met)
|
rs140035595
|
|
NM_001165963.4(SCN1A):c.2591T>A (p.Leu864Gln)
|
|
|
NM_001165963.4(SCN1A):c.2594G>A (p.Arg865Gln)
|
rs1057517862
|
|
NM_001165963.4(SCN1A):c.25C>A (p.Pro9Thr)
|
|
|
NM_001165963.4(SCN1A):c.2601C>A (p.Phe867Leu)
|
rs2105808775
|
|
NM_001165963.4(SCN1A):c.2608G>A (p.Ala870Thr)
|
|
|
NM_001165963.4(SCN1A):c.2609C>A (p.Ala870Glu)
|
|
|
NM_001165963.4(SCN1A):c.2611A>G (p.Lys871Glu)
|
rs1553541525
|
|
NM_001165963.4(SCN1A):c.2624C>G (p.Thr875Arg)
|
rs121918623
|
|
NM_001165963.4(SCN1A):c.2630A>G (p.Asn877Ser)
|
|
|
NM_001165963.4(SCN1A):c.2636T>C (p.Leu879Pro)
|
rs1559200901
|
|
NM_001165963.4(SCN1A):c.264+3G>A
|
|
|
NM_001165963.4(SCN1A):c.264+4A>T
|
rs1574371074
|
|
NM_001165963.4(SCN1A):c.2641A>G (p.Lys881Glu)
|
rs1553541502
|
|
NM_001165963.4(SCN1A):c.2645T>C (p.Ile882Thr)
|
rs1696670375
|
|
NM_001165963.4(SCN1A):c.2648T>C (p.Ile883Thr)
|
rs2105808409
|
|
NM_001165963.4(SCN1A):c.265-3C>T
|
rs1553553614
|
|
NM_001165963.4(SCN1A):c.2650G>C (p.Gly884Arg)
|
rs1253956567
|
|
NM_001165963.4(SCN1A):c.2651_2656del (p.Gly884_Ser886delinsAla)
|
rs1553541493
|
|
NM_001165963.4(SCN1A):c.266C>T (p.Thr89Ile)
|
rs1574302474
|
|
NM_001165963.4(SCN1A):c.2675A>G (p.Asn892Ser)
|
rs1553541455
|
|
NM_001165963.4(SCN1A):c.2681C>A (p.Thr894Asn)
|
rs796052983
|
|
NM_001165963.4(SCN1A):c.2691G>A (p.Leu897=)
|
rs1574183148
|
|
NM_001165963.4(SCN1A):c.2695A>G (p.Ile899Val)
|
|
|
NM_001165963.4(SCN1A):c.2698A>G (p.Ile900Val)
|
rs1696655187
|
|
NM_001165963.4(SCN1A):c.2701_2706dup (p.Phe902_Ile903insValPhe)
|
|
|
NM_001165963.4(SCN1A):c.2710T>G (p.Phe904Val)
|
rs1696653174
|
|
NM_001165963.4(SCN1A):c.2716G>C (p.Val906Leu)
|
rs185760342
|
|
NM_001165963.4(SCN1A):c.2722G>A (p.Gly908Ser)
|
rs796052984
|
|
NM_001165963.4(SCN1A):c.2725A>G (p.Met909Val)
|
|
|
NM_001165963.4(SCN1A):c.2726T>G (p.Met909Arg)
|
rs1559200116
|
|
NM_001165963.4(SCN1A):c.2732T>C (p.Leu911Pro)
|
|
|
NM_001165963.4(SCN1A):c.2737G>C (p.Gly913Arg)
|
rs1696648191
|
|
NM_001165963.4(SCN1A):c.2738G>T (p.Gly913Val)
|
|
|
NM_001165963.4(SCN1A):c.2739T>C (p.Gly913=)
|
|
|
NM_001165963.4(SCN1A):c.2744G>A (p.Ser915Asn)
|
|
|
NM_001165963.4(SCN1A):c.2747A>G (p.Tyr916Cys)
|
rs1559200027
|
|
NM_001165963.4(SCN1A):c.2767A>G (p.Ile923Val)
|
rs2105807305
|
|
NM_001165963.4(SCN1A):c.2771C>T (p.Ala924Val)
|
rs1696642330
|
|
NM_001165963.4(SCN1A):c.2780G>T (p.Cys927Phe)
|
rs794726811
|
|
NM_001165963.4(SCN1A):c.2783A>C (p.Gln928Pro)
|
rs1060502192
|
|
NM_001165963.4(SCN1A):c.2798A>T (p.His933Leu)
|
rs1696637467
|
|
NM_001165963.4(SCN1A):c.2803A>T (p.Asn935Tyr)
|
rs2105806890
|
|
NM_001165963.4(SCN1A):c.2806G>A (p.Asp936Asn)
|
rs796052988
|
|
NM_001165963.4(SCN1A):c.2812T>A (p.Phe938Ile)
|
|
|
NM_001165963.4(SCN1A):c.2816A>G (p.His939Arg)
|
rs398123589
|
|
NM_001165963.4(SCN1A):c.2824C>T (p.Leu942=)
|
|
|
NM_001165963.4(SCN1A):c.2839G>A (p.Val947Met)
|
rs796052986
|
|
NM_001165963.4(SCN1A):c.2839G>C (p.Val947Leu)
|
rs796052986
|
|
NM_001165963.4(SCN1A):c.2852A>G (p.Glu951Gly)
|
rs1574181209
|
|
NM_001165963.4(SCN1A):c.2858T>C (p.Ile953Thr)
|
rs1696621654
|
|
NM_001165963.4(SCN1A):c.2871G>C (p.Trp957Cys)
|
rs1553541157
|
|
NM_001165963.4(SCN1A):c.2878A>G (p.Met960Val)
|
rs121918750
|
|
NM_001165963.4(SCN1A):c.2885T>C (p.Val962Ala)
|
rs138858653
|
|
NM_001165963.4(SCN1A):c.2891G>C (p.Gly964Ala)
|
|
|
NM_001165963.4(SCN1A):c.2891G>T (p.Gly964Val)
|
|
|
NM_001165963.4(SCN1A):c.2899A>G (p.Met967Val)
|
|
|
NM_001165963.4(SCN1A):c.2915T>G (p.Phe972Cys)
|
rs2105805621
|
|
NM_001165963.4(SCN1A):c.2917A>G (p.Met973Val)
|
rs121917991
|
|
NM_001165963.4(SCN1A):c.2923G>C (p.Val975Leu)
|
rs727504139
|
|
NM_001165963.4(SCN1A):c.2933T>C (p.Ile978Thr)
|
rs1553541028
|
|
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.2944G>A (p.Val982Met)
|
|
|
NM_001165963.4(SCN1A):c.2946+4T>C
|
rs1390205269
|
|
NM_001165963.4(SCN1A):c.2946+4T>G
|
|
|
NM_001165963.4(SCN1A):c.2947-10T>A
|
rs1696409431
|
|
NM_001165963.4(SCN1A):c.2966C>T (p.Ala989Val)
|
rs796052990
|
|
NM_001165963.4(SCN1A):c.2977A>G (p.Ser993Gly)
|
|
|
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.29G>C (p.Gly10Ala)
|
|
|
NM_001165963.4(SCN1A):c.3008C>G (p.Thr1003Ser)
|
rs1343188948
|
|
NM_001165963.4(SCN1A):c.3008C>T (p.Thr1003Ile)
|
|
|
NM_001165963.4(SCN1A):c.3019A>G (p.Asn1007Asp)
|
rs1696389624
|
|
NM_001165963.4(SCN1A):c.3030T>A (p.Asn1010Lys)
|
|
|
NM_001165963.4(SCN1A):c.3043G>A (p.Ala1015Thr)
|
|
|
NM_001165963.4(SCN1A):c.3046G>A (p.Val1016Met)
|
rs370857858
|
|
NM_001165963.4(SCN1A):c.3055A>G (p.Met1019Val)
|
|
|
NM_001165963.4(SCN1A):c.3058C>G (p.His1020Asp)
|
|
|
NM_001165963.4(SCN1A):c.3064_3065delinsAA (p.Gly1022Lys)
|
rs2105796551
|
|
NM_001165963.4(SCN1A):c.310_312del (p.Ala104del)
|
rs1699362921
|
|
NM_001165963.4(SCN1A):c.314C>A (p.Thr105Asn)
|
|
|
NM_001165963.4(SCN1A):c.319G>T (p.Ala107Ser)
|
rs745404213
|
|
NM_001165963.4(SCN1A):c.31C>T (p.Pro11Ser)
|
rs1684706255
|
|
NM_001165963.4(SCN1A):c.320C>T (p.Ala107Val)
|
rs1559254819
|
|
NM_001165963.4(SCN1A):c.322C>G (p.Leu108Val)
|
|
|
NM_001165963.4(SCN1A):c.329T>A (p.Ile110Asn)
|
|
|
NM_001165963.4(SCN1A):c.340T>G (p.Phe114Val)
|
|
|
NM_001165963.4(SCN1A):c.344A>G (p.Asn115Ser)
|
rs1699357096
|
|
NM_001165963.4(SCN1A):c.344A>T (p.Asn115Ile)
|
|
|
NM_001165963.4(SCN1A):c.346C>T (p.Pro116Ser)
|
|
|
NM_001165963.4(SCN1A):c.353G>A (p.Arg118Lys)
|
|
|
NM_001165963.4(SCN1A):c.364A>G (p.Ile122Val)
|
rs1405137253
|
|
NM_001165963.4(SCN1A):c.371T>G (p.Ile124Ser)
|
rs121918761
|
|
NM_001165963.4(SCN1A):c.373T>G (p.Leu125Val)
|
|
|
NM_001165963.4(SCN1A):c.376G>A (p.Val126Ile)
|
rs1699350822
|
|
NM_001165963.4(SCN1A):c.377T>A (p.Val126Glu)
|
|
|
NM_001165963.4(SCN1A):c.377T>C (p.Val126Ala)
|
rs1699350522
|
|
NM_001165963.4(SCN1A):c.377T>G (p.Val126Gly)
|
|
|
NM_001165963.4(SCN1A):c.382T>G (p.Ser128Ala)
|
|
|
NM_001165963.4(SCN1A):c.383+5C>A
|
rs1060502185
|
|
NM_001165963.4(SCN1A):c.384-1C>T
|
rs794726764
|
|
NM_001165963.4(SCN1A):c.384-3T>G
|
|
|
NM_001165963.4(SCN1A):c.384-5C>T
|
rs781505393
|
|
NM_001165963.4(SCN1A):c.38G>T (p.Ser13Ile)
|
rs1684704155
|
|
NM_001165963.4(SCN1A):c.392G>A (p.Ser131Asn)
|
rs1699154477
|
|
NM_001165963.4(SCN1A):c.393C>G (p.Ser131Arg)
|
rs1574290971
|
|
NM_001165963.4(SCN1A):c.397C>A (p.Leu133Ile)
|
|
|
NM_001165963.4(SCN1A):c.398T>A (p.Leu133Gln)
|
rs1131691440
|
|
NM_001165963.4(SCN1A):c.398T>C (p.Leu133Pro)
|
|
|
NM_001165963.4(SCN1A):c.398T>G (p.Leu133Arg)
|
rs1131691440
|
|
NM_001165963.4(SCN1A):c.404T>A (p.Met135Lys)
|
|
|
NM_001165963.4(SCN1A):c.404T>C (p.Met135Thr)
|
rs1574290850
|
|
NM_001165963.4(SCN1A):c.407G>C (p.Cys136Ser)
|
|
|
NM_001165963.4(SCN1A):c.408C>G (p.Cys136Trp)
|
|
|
NM_001165963.4(SCN1A):c.416T>G (p.Leu139Trp)
|
rs1553552378
|
|
NM_001165963.4(SCN1A):c.424T>C (p.Cys142Arg)
|
|
|
NM_001165963.4(SCN1A):c.441G>A (p.Met147Ile)
|
|
|
NM_001165963.4(SCN1A):c.447C>A (p.Asn149Lys)
|
rs1484003948
|
|
NM_001165963.4(SCN1A):c.452C>A (p.Pro151His)
|
|
|
NM_001165963.4(SCN1A):c.458G>T (p.Trp153Leu)
|
rs2105909582
|
|
NM_001165963.4(SCN1A):c.460A>G (p.Thr154Ala)
|
rs1317965295
|
|
NM_001165963.4(SCN1A):c.468T>A (p.Asn156Lys)
|
|
|
NM_001165963.4(SCN1A):c.468T>G (p.Asn156Lys)
|
rs1250844959
|
|
NM_001165963.4(SCN1A):c.46TTC[1] (p.Phe17del)
|
rs2105984083
|
|
NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln)
|
rs796053090
|
|
NM_001165963.4(SCN1A):c.475T>C (p.Tyr159His)
|
rs2105902773
|
|
NM_001165963.4(SCN1A):c.502G>A (p.Glu168Lys)
|
rs1553551483
|
|
NM_001165963.4(SCN1A):c.509T>A (p.Leu170His)
|
|
|
NM_001165963.4(SCN1A):c.519T>G (p.Ile173Met)
|
rs1283681963
|
|
NM_001165963.4(SCN1A):c.532T>C (p.Phe178Leu)
|
|
|
NM_001165963.4(SCN1A):c.533T>C (p.Phe178Ser)
|
rs1698951764
|
|
NM_001165963.4(SCN1A):c.53C>T (p.Thr18Ile)
|
|
|
NM_001165963.4(SCN1A):c.541G>A (p.Glu181Lys)
|
|
|
NM_001165963.4(SCN1A):c.542A>G (p.Glu181Gly)
|
rs1559245947
|
|
NM_001165963.4(SCN1A):c.544G>T (p.Asp182Tyr)
|
|
|
NM_001165963.4(SCN1A):c.550A>G (p.Thr184Ala)
|
|
|
NM_001165963.4(SCN1A):c.550A>T (p.Thr184Ser)
|
rs368798811
|
|
NM_001165963.4(SCN1A):c.551C>T (p.Thr184Ile)
|
rs1698949011
|
|
NM_001165963.4(SCN1A):c.554T>C (p.Phe185Ser)
|
rs1358421236
|
|
NM_001165963.4(SCN1A):c.55A>G (p.Arg19Gly)
|
rs796053096
|
|
NM_001165963.4(SCN1A):c.565C>G (p.Pro189Ala)
|
rs886055046
|
|
NM_001165963.4(SCN1A):c.566C>T (p.Pro189Leu)
|
rs2105901930
|
|
NM_001165963.4(SCN1A):c.56G>A (p.Arg19Lys)
|
rs1479913332
|
|
NM_001165963.4(SCN1A):c.574T>C (p.Trp192Arg)
|
|
|
NM_001165963.4(SCN1A):c.592A>G (p.Ile198Val)
|
|
|
NM_001165963.4(SCN1A):c.596C>T (p.Thr199Ile)
|
rs121917983
|
|
NM_001165963.4(SCN1A):c.602+1G>A
|
|
|
NM_001165963.4(SCN1A):c.602+3_602+6del
|
rs1698937795
|
|
NM_001165963.4(SCN1A):c.602+5G>A
|
|
|
NM_001165963.4(SCN1A):c.603-17_603-12delinsACGTA
|
|
|
NM_001165963.4(SCN1A):c.603-3C>G
|
|
|
NM_001165963.4(SCN1A):c.603G>A (p.Ala201=)
|
|
|
NM_001165963.4(SCN1A):c.605A>G (p.Tyr202Cys)
|
|
|
NM_001165963.4(SCN1A):c.621G>A (p.Val207=)
|
|
|
NM_001165963.4(SCN1A):c.622G>A (p.Asp208Asn)
|
rs1698748633
|
|
NM_001165963.4(SCN1A):c.632A>C (p.Asn211Thr)
|
rs1553550618
|
|
NM_001165963.4(SCN1A):c.632A>G (p.Asn211Ser)
|
rs1553550618
|
|
NM_001165963.4(SCN1A):c.635T>C (p.Val212Ala)
|
rs551068385
|
|
NM_001165963.4(SCN1A):c.638C>G (p.Ser213Trp)
|
rs754661378
|
|
NM_001165963.4(SCN1A):c.640G>A (p.Ala214Thr)
|
rs1574272597
|
|
NM_001165963.4(SCN1A):c.657A>C (p.Arg219Ser)
|
rs727504143
|
|
NM_001165963.4(SCN1A):c.662_663delinsAT (p.Leu221His)
|
|
|
NM_001165963.4(SCN1A):c.664C>G (p.Arg222Gly)
|
|
|
NM_001165963.4(SCN1A):c.672G>C (p.Leu224Phe)
|
|
|
NM_001165963.4(SCN1A):c.685G>C (p.Val229Leu)
|
rs1698732758
|
|
NM_001165963.4(SCN1A):c.68C>A (p.Ala23Glu)
|
rs139397227
|
|
NM_001165963.4(SCN1A):c.692C>T (p.Pro231Leu)
|
rs1574271532
|
|
NM_001165963.4(SCN1A):c.694+3G>A
|
|
|
NM_001165963.4(SCN1A):c.694+5G>C
|
rs727504142
|
|
NM_001165963.4(SCN1A):c.695G>A (p.Gly232Asp)
|
|
|
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.707T>C (p.Ile236Thr)
|
rs886039464
|
|
NM_001165963.4(SCN1A):c.709G>A (p.Val237Met)
|
|
|
NM_001165963.4(SCN1A):c.713G>T (p.Gly238Val)
|
rs1574266490
|
|
NM_001165963.4(SCN1A):c.71C>G (p.Ala24Gly)
|
rs1489662325
|
|
NM_001165963.4(SCN1A):c.725A>T (p.Gln242Leu)
|
rs1574266328
|
|
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>C (p.Val250Ala)
|
|
|
NM_001165963.4(SCN1A):c.751A>G (p.Met251Val)
|
rs2105890375
|
|
NM_001165963.4(SCN1A):c.756C>T (p.Ile252=)
|
rs587780447
|
|
NM_001165963.4(SCN1A):c.761C>T (p.Thr254Ile)
|
|
|
NM_001165963.4(SCN1A):c.773T>G (p.Leu258Arg)
|
|
|
NM_001165963.4(SCN1A):c.793G>C (p.Gly265Arg)
|
|
|
NM_001165963.4(SCN1A):c.7C>A (p.Gln3Lys)
|
rs924198007
|
|
NM_001165963.4(SCN1A):c.802C>T (p.Leu268=)
|
rs2105889931
|
|
NM_001165963.4(SCN1A):c.807C>A (p.Phe269Leu)
|
rs2105889917
|
|
NM_001165963.4(SCN1A):c.808A>G (p.Met270Val)
|
|
|
NM_001165963.4(SCN1A):c.809T>C (p.Met270Thr)
|
rs1444023925
|
|
NM_001165963.4(SCN1A):c.810G>A (p.Met270Ile)
|
rs2105889888
|
|
NM_001165963.4(SCN1A):c.825T>A (p.Asn275Lys)
|
rs2105889740
|
|
NM_001165963.4(SCN1A):c.833T>C (p.Ile278Thr)
|
rs1559238215
|
|
NM_001165963.4(SCN1A):c.834A>G (p.Ile278Met)
|
|
|
NM_001165963.4(SCN1A):c.836A>G (p.Gln279Arg)
|
|
|
NM_001165963.4(SCN1A):c.841C>T (p.Pro281Ser)
|
rs1553549660
|
|
NM_001165963.4(SCN1A):c.845C>A (p.Pro282His)
|
rs1698591690
|
|
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>C (p.Leu287Phe)
|
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.871A>G (p.Ser291Gly)
|
rs2105889285
|
|
NM_001165963.4(SCN1A):c.87T>G (p.Ile29Met)
|
|
|
NM_001165963.4(SCN1A):c.882G>T (p.Lys294Asn)
|
rs2105889139
|
|
NM_001165963.4(SCN1A):c.89C>G (p.Ala30Gly)
|
|
|
NM_001165963.4(SCN1A):c.901A>G (p.Asn301Asp)
|
|
|
NM_001165963.4(SCN1A):c.905G>T (p.Gly302Val)
|
|
|
NM_001165963.4(SCN1A):c.907A>G (p.Thr303Ala)
|
rs774358847
|
|
NM_001165963.4(SCN1A):c.909A>G (p.Thr303=)
|
rs1559237625
|
|
NM_001165963.4(SCN1A):c.916A>C (p.Asn306His)
|
rs2105888896
|
|
NM_001165963.4(SCN1A):c.918T>G (p.Asn306Lys)
|
|
|
NM_001165963.4(SCN1A):c.926_931del (p.Val309_Phe310del)
|
rs2105888808
|
|
NM_001165963.4(SCN1A):c.935T>G (p.Phe312Cys)
|
rs886044441
|
|
NM_001165963.4(SCN1A):c.947_952dup (p.Tyr317_Ile318insThrTyr)
|
|
|
NM_001165963.4(SCN1A):c.94G>A (p.Glu32Lys)
|
|
|
NM_001165963.4(SCN1A):c.956A>G (p.Gln319Arg)
|
rs2105888544
|
|
NM_001165963.4(SCN1A):c.958G>T (p.Asp320Tyr)
|
rs777317949
|
|
NM_001165963.4(SCN1A):c.959A>T (p.Asp320Val)
|
rs796052967
|
|
NM_001165963.4(SCN1A):c.964+12_964+15del
|
|
|
NM_001165963.4(SCN1A):c.964+4A>T
|
|
|
NM_001165963.4(SCN1A):c.964+4_964+5insAAGATTCAAGTAAAAAAANNNNNGGCCGGGCGCGGTGGCTCACGCCTGTAA
|
|
|
NM_001165963.4(SCN1A):c.964A>G (p.Arg322Gly)
|
|
|
NM_001165963.4(SCN1A):c.965-14_965-11del
|
|
|
NM_001165963.4(SCN1A):c.965-3C>A
|
rs1698197579
|
|
NM_001165963.4(SCN1A):c.965-480T>C
|
|
|
NM_001165963.4(SCN1A):c.967T>A (p.Tyr323Asn)
|
rs2105874638
|
|
NM_001165963.4(SCN1A):c.971A>G (p.His324Arg)
|
rs796053093
|
|
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>A (p.Gly329Ser)
|
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
|
|