ClinVar Miner

List of variants in gene SCN8A studied for not provided

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Gene type:
ClinVar version:
Total variants: 550
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.3372+203G>C rs303809 0.87303
NM_001330260.2(SCN8A):c.3820-202A>G rs2580807 0.86280
NM_001330260.2(SCN8A):c.4796-38C>A rs303828 0.86075
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=) rs4761829 0.81114
NM_001330260.2(SCN8A):c.1135-48C>T rs2291265 0.78368
NM_001330260.2(SCN8A):c.3490+20G>A rs303808 0.76481
NM_001330260.2(SCN8A):c.3372+129A>G rs303810 0.73478
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=) rs303815 0.62374
NM_001330260.2(SCN8A):c.4419+283C>T rs303816 0.62302
NM_001330260.2(SCN8A):c.4524+56A>G rs2241855 0.15635
NM_001330260.2(SCN8A):c.3820-132G>T rs2304698 0.15474
NM_001330260.2(SCN8A):c.4524+299G>A rs2241853 0.13925
NM_001330260.2(SCN8A):c.4228-27C>T rs9943714 0.12555
NM_001330260.2(SCN8A):c.3943-208G>A rs1439791 0.12497
NM_001330260.2(SCN8A):c.4524+254T>C rs2241854 0.10978
NM_001330260.2(SCN8A):c.3820-44G>T rs752277461 0.07469
NM_001330260.2(SCN8A):c.3820-43G>T rs758243136 0.06589
NM_001330260.2(SCN8A):c.395+262T>C rs56764080 0.05648
NM_001330260.2(SCN8A):c.1636-237G>A rs74091624 0.04589
NM_001330260.2(SCN8A):c.3819+225T>C rs11836472 0.03309
NM_001330260.2(SCN8A):c.993-58A>G rs74091614 0.03307
NM_001330260.2(SCN8A):c.4419+200A>G rs58113407 0.02960
NM_001330260.2(SCN8A):c.1635+251A>G rs116880453 0.02953
NM_001330260.2(SCN8A):c.4795+49T>A rs74093917 0.02939
NM_001330260.2(SCN8A):c.3645+265A>G rs34690825 0.02740
NM_001330260.2(SCN8A):c.2901+277T>C rs74091656 0.02364
NM_001330260.2(SCN8A):c.1341+208T>C rs75757324 0.01896
NM_001330260.2(SCN8A):c.395+25T>C rs2271086 0.01584
NM_001330260.2(SCN8A):c.2901+166A>G rs148816266 0.01551
NM_001330260.2(SCN8A):c.928+164T>C rs111372870 0.01417
NM_001330260.2(SCN8A):c.4420-119A>G rs12317139 0.01372
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073 0.01112
NM_001330260.2(SCN8A):c.3645+112G>A rs188166845 0.01095
NM_001330260.2(SCN8A):c.4227+225G>A rs117329304 0.01047
NM_001330260.2(SCN8A):c.4796-129A>T rs139005661 0.01023
NM_001330260.2(SCN8A):c.4282-233C>T rs79849129 0.00860
NM_001330260.2(SCN8A):c.3819+34C>G rs112808329 0.00768
NM_001330260.2(SCN8A):c.3820-39C>T rs1254736818 0.00717
NM_001330260.2(SCN8A):c.395+121C>T rs115722036 0.00631
NM_001330260.2(SCN8A):c.485+307T>C rs558956233 0.00602
NM_001330260.2(SCN8A):c.615-436C>T rs184168638 0.00583
NM_001330260.2(SCN8A):c.2131+26A>C rs138151588 0.00571
NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=) rs115623439 0.00531
NM_001330260.2(SCN8A):c.3372+62C>G rs76304221 0.00480
NM_001330260.2(SCN8A):c.929-236G>A rs140566493 0.00465
NM_001330260.2(SCN8A):c.2544+184T>C rs114131167 0.00422
NM_001330260.2(SCN8A):c.3943-39T>C rs139720549 0.00407
NM_001330260.2(SCN8A):c.614+313C>T rs139226002 0.00386
NM_001330260.2(SCN8A):c.614+261A>T rs142060454 0.00337
NM_001330260.2(SCN8A):c.1635+102G>A rs143117582 0.00300
NM_001330260.2(SCN8A):c.277-47A>G rs201794111 0.00204
NM_001330260.2(SCN8A):c.-55+12C>T rs534924909 0.00202
NM_001330260.2(SCN8A):c.2632C>T (p.Leu878=) rs372582842 0.00185
NM_001330260.2(SCN8A):c.2370+22C>T rs191442852 0.00171
NM_001330260.2(SCN8A):c.2901+67A>G rs536658413 0.00151
NM_001330260.2(SCN8A):c.2098A>T (p.Ile700Leu) rs187153231 0.00138
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=) rs187327463 0.00132
NM_001330260.2(SCN8A):c.2544+49A>G rs372757015 0.00130
NM_001330260.2(SCN8A):c.2132-50T>G rs200389862 0.00124
NM_001330260.2(SCN8A):c.1999-42A>C rs189088148 0.00117
NM_001330260.2(SCN8A):c.395+44G>A rs181052973 0.00106
NM_001330260.2(SCN8A):c.706+36A>G rs189697621 0.00098
NM_001330260.2(SCN8A):c.4281+18G>A rs368432695 0.00087
NM_001330260.2(SCN8A):c.993-36T>C rs199743173 0.00085
NM_001330260.2(SCN8A):c.3491-37T>C rs201983215 0.00073
NM_001330260.2(SCN8A):c.4796-35C>A rs149882447 0.00073
NM_001330260.2(SCN8A):c.1819G>A (p.Ala607Thr) rs367949317 0.00061
NM_001330260.2(SCN8A):c.3204C>T (p.Ser1068=) rs201045619 0.00058
NM_001330260.2(SCN8A):c.4419+22C>T rs148202722 0.00057
NM_001330260.2(SCN8A):c.1470A>G (p.Glu490=) rs187115247 0.00051
NM_001330260.2(SCN8A):c.1677C>T (p.His559=) rs202212399 0.00051
NM_001330260.2(SCN8A):c.3321C>T (p.Asn1107=) rs374213514 0.00050
NM_001330260.2(SCN8A):c.4155A>C (p.Thr1385=) rs144424662 0.00049
NM_001330260.2(SCN8A):c.706+41C>G rs540984006 0.00044
NM_001330260.2(SCN8A):c.2670C>T (p.Ala890=) rs374452942 0.00035
NM_001330260.2(SCN8A):c.2109T>C (p.Val703=) rs369029348 0.00033
NM_001330260.2(SCN8A):c.4764C>T (p.Phe1588=) rs200728478 0.00032
NM_001330260.2(SCN8A):c.1424G>A (p.Arg475Gln) rs201018451 0.00029
NM_001330260.2(SCN8A):c.4748T>C (p.Ile1583Thr) rs201458257 0.00027
NM_001330260.2(SCN8A):c.5577C>T (p.Ser1859=) rs185667241 0.00026
NM_001330260.2(SCN8A):c.3491-30G>A rs544392430 0.00024
NM_001330260.2(SCN8A):c.4969C>T (p.Leu1657=) rs374755275 0.00023
NM_001330260.2(SCN8A):c.3820-7T>C rs375785915 0.00022
NM_001330260.2(SCN8A):c.5601G>A (p.Gln1867=) rs368449473 0.00022
NM_001330260.2(SCN8A):c.1135-43C>A rs181290446 0.00017
NM_001330260.2(SCN8A):c.3148G>A (p.Gly1050Ser) rs202006479 0.00017
NM_001330260.2(SCN8A):c.5619C>T (p.Phe1873=) rs372752853 0.00016
NM_001330260.2(SCN8A):c.5795G>C (p.Arg1932Pro) rs371766742 0.00016
NM_001330260.2(SCN8A):c.615-34C>T rs576172040 0.00016
NM_001330260.2(SCN8A):c.804C>T (p.Ile268=) rs375241678 0.00015
NM_001330260.2(SCN8A):c.2394G>A (p.Ala798=) rs201392695 0.00014
NM_001330260.2(SCN8A):c.2586C>T (p.Asn862=) rs377396450 0.00014
NM_001330260.2(SCN8A):c.3582C>T (p.Ile1194=) rs756909923 0.00013
NM_001330260.2(SCN8A):c.3373-9C>T rs770747359 0.00012
NM_001330260.2(SCN8A):c.5046C>T (p.Ile1682=) rs376759643 0.00011
NM_001330260.2(SCN8A):c.5761A>C (p.Thr1921Pro) rs368796221 0.00011
NM_001330260.2(SCN8A):c.3373-49G>A rs752462655 0.00009
NM_001330260.2(SCN8A):c.3491-12C>T rs369532655 0.00009
NM_001330260.2(SCN8A):c.5229C>A (p.Ile1743=) rs370268493 0.00009
NM_001330260.2(SCN8A):c.3423A>G (p.Pro1141=) rs376102810 0.00008
NM_001330260.2(SCN8A):c.855C>T (p.Pro285=) rs200784857 0.00007
NM_001330260.2(SCN8A):c.1149C>T (p.Ala383=) rs201402959 0.00006
NM_001330260.2(SCN8A):c.3135C>T (p.Ile1045=) rs550579591 0.00006
NM_001330260.2(SCN8A):c.3158T>G (p.Ile1053Ser) rs587780453 0.00006
NM_001330260.2(SCN8A):c.3710A>G (p.Lys1237Arg) rs377197765 0.00006
NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln) rs369346315 0.00006
NM_001330260.2(SCN8A):c.615-144C>T rs192982781 0.00006
NM_001330260.2(SCN8A):c.858A>T (p.Ile286=) rs370911858 0.00006
NM_001330260.2(SCN8A):c.1779G>C (p.Glu593Asp) rs760717246 0.00005
NM_001330260.2(SCN8A):c.2370+35G>A rs142420390 0.00005
NM_001330260.2(SCN8A):c.4350C>T (p.Phe1450=) rs753234714 0.00005
NM_001330260.2(SCN8A):c.5490C>T (p.Ile1830=) rs200546525 0.00005
NM_001330260.2(SCN8A):c.1215G>A (p.Leu405=) rs751093826 0.00004
NM_001330260.2(SCN8A):c.1230G>A (p.Val410=) rs1905244 0.00004
NM_001330260.2(SCN8A):c.1999-4A>T rs765240974 0.00004
NM_001330260.2(SCN8A):c.3147C>T (p.Thr1049=) rs567527548 0.00004
NM_001330260.2(SCN8A):c.402T>C (p.Phe134=) rs559668426 0.00004
NM_001330260.2(SCN8A):c.4962C>T (p.Ile1654=) rs766702527 0.00004
NM_001330260.2(SCN8A):c.5558A>G (p.Lys1853Arg) rs1410900258 0.00004
NM_001330260.2(SCN8A):c.707-19G>A rs2306553 0.00004
NM_001330260.2(SCN8A):c.1545G>T (p.Val515=) rs779561924 0.00003
NM_001330260.2(SCN8A):c.2056G>A (p.Asp686Asn) rs373073046 0.00003
NM_001330260.2(SCN8A):c.2951A>G (p.Asn984Ser) rs373040746 0.00003
NM_001330260.2(SCN8A):c.3272A>G (p.Asn1091Ser) rs558738676 0.00003
NM_001330260.2(SCN8A):c.3373-13C>T rs750470187 0.00003
NM_001330260.2(SCN8A):c.3503G>A (p.Arg1168Gln) rs763817893 0.00003
NM_001330260.2(SCN8A):c.3769G>A (p.Val1257Ile) rs750829844 0.00003
NM_001330260.2(SCN8A):c.3957C>T (p.Ala1319=) rs764790057 0.00003
NM_001330260.2(SCN8A):c.4590G>A (p.Met1530Ile) rs771231471 0.00003
NM_001330260.2(SCN8A):c.4678G>A (p.Val1560Met) rs764328953 0.00003
NM_001330260.2(SCN8A):c.4725G>A (p.Ala1575=) rs756326813 0.00003
NM_001330260.2(SCN8A):c.4770C>T (p.Phe1590=) rs368421269 0.00003
NM_001330260.2(SCN8A):c.491C>T (p.Thr164Met) rs775272996 0.00003
NM_001330260.2(SCN8A):c.5271C>T (p.Val1757=) rs752174650 0.00003
NM_001330260.2(SCN8A):c.5506A>G (p.Met1836Val) rs202187894 0.00003
NM_001330260.2(SCN8A):c.5580G>A (p.Gly1860=) rs201484402 0.00003
NM_001330260.2(SCN8A):c.5719C>T (p.Arg1907Trp) rs760444517 0.00003
NM_014191.4(SCN8A):c.619A>G (p.Ile207Val) rs767123396 0.00003
NM_001330260.2(SCN8A):c.*8C>T rs1057520364 0.00002
NM_001330260.2(SCN8A):c.1349C>T (p.Ala450Val) rs755154133 0.00002
NM_001330260.2(SCN8A):c.1350G>A (p.Ala450=) rs779130227 0.00002
NM_001330260.2(SCN8A):c.1519G>C (p.Glu507Gln) rs777851383 0.00002
NM_001330260.2(SCN8A):c.1588C>T (p.Arg530Trp) rs761336234 0.00002
NM_001330260.2(SCN8A):c.1707G>C (p.Arg569Ser) rs267603508 0.00002
NM_001330260.2(SCN8A):c.1876T>C (p.Ser626Pro) rs753009673 0.00002
NM_001330260.2(SCN8A):c.2002A>G (p.Thr668Ala) rs556325115 0.00002
NM_001330260.2(SCN8A):c.2073C>T (p.Tyr691=) rs146982102 0.00002
NM_001330260.2(SCN8A):c.2616G>T (p.Val872=) rs778358285 0.00002
NM_001330260.2(SCN8A):c.2691T>C (p.Phe897=) rs1057519119 0.00002
NM_001330260.2(SCN8A):c.3267C>A (p.Asn1089Lys) rs761386688 0.00002
NM_001330260.2(SCN8A):c.340A>G (p.Ile114Val) rs527246057 0.00002
NM_001330260.2(SCN8A):c.3643C>T (p.Leu1215=) rs532528307 0.00002
NM_001330260.2(SCN8A):c.4005C>T (p.Leu1335=) rs1030141528 0.00002
NM_001330260.2(SCN8A):c.4359C>T (p.Phe1453=) rs746544103 0.00002
NM_001330260.2(SCN8A):c.4413G>A (p.Lys1471=) rs776485215 0.00002
NM_001330260.2(SCN8A):c.4719G>A (p.Met1573Ile) rs780940263 0.00002
NM_001330260.2(SCN8A):c.5458C>A (p.Arg1820=) rs747526439 0.00002
NM_001330260.2(SCN8A):c.810G>A (p.Leu270=) rs377606066 0.00002
NM_001330260.2(SCN8A):c.1131A>G (p.Gln377=) rs750815202 0.00001
NM_001330260.2(SCN8A):c.1204C>T (p.Leu402=) rs1057522082 0.00001
NM_001330260.2(SCN8A):c.1351A>G (p.Met451Val) rs961308028 0.00001
NM_001330260.2(SCN8A):c.1396G>A (p.Glu466Lys) rs557559740 0.00001
NM_001330260.2(SCN8A):c.1423C>T (p.Arg475Trp) rs771577480 0.00001
NM_001330260.2(SCN8A):c.1439T>C (p.Ile480Thr) rs1159903256 0.00001
NM_001330260.2(SCN8A):c.1445A>G (p.Lys482Arg) rs769520392 0.00001
NM_001330260.2(SCN8A):c.1507C>G (p.Leu503Val) rs1022856027 0.00001
NM_001330260.2(SCN8A):c.1566T>C (p.Asp522=) rs768201816 0.00001
NM_001330260.2(SCN8A):c.1644C>T (p.Leu548=) rs1289888622 0.00001
NM_001330260.2(SCN8A):c.1686G>A (p.Lys562=) rs764350935 0.00001
NM_001330260.2(SCN8A):c.1737C>T (p.Ser579=) rs770853019 0.00001
NM_001330260.2(SCN8A):c.1792C>T (p.Arg598Trp) rs1064796357 0.00001
NM_001330260.2(SCN8A):c.1880C>T (p.Ser627Leu) rs1198276041 0.00001
NM_001330260.2(SCN8A):c.1908C>T (p.Ser636=) rs1053543226 0.00001
NM_001330260.2(SCN8A):c.2074G>A (p.Gly692Arg) rs1037521613 0.00001
NM_001330260.2(SCN8A):c.2131+25A>C rs571996473 0.00001
NM_001330260.2(SCN8A):c.2139A>C (p.Glu713Asp) rs1218269439 0.00001
NM_001330260.2(SCN8A):c.2403C>G (p.Phe801Leu) rs748828215 0.00001
NM_001330260.2(SCN8A):c.2415A>G (p.Ile805Met) rs1280217170 0.00001
NM_001330260.2(SCN8A):c.2733C>T (p.Asp911=) rs763201344 0.00001
NM_001330260.2(SCN8A):c.302A>G (p.Lys101Arg) rs773765456 0.00001
NM_001330260.2(SCN8A):c.3040A>G (p.Lys1014Glu) rs1019969857 0.00001
NM_001330260.2(SCN8A):c.3044T>C (p.Val1015Ala) rs1423546979 0.00001
NM_001330260.2(SCN8A):c.3048C>T (p.His1016=) rs777076650 0.00001
NM_001330260.2(SCN8A):c.3164G>A (p.Arg1055Gln) rs756127631 0.00001
NM_001330260.2(SCN8A):c.3327C>T (p.Asn1109=) rs1349215930 0.00001
NM_001330260.2(SCN8A):c.3345C>T (p.Ser1115=) rs745966369 0.00001
NM_001330260.2(SCN8A):c.3350C>T (p.Ser1117Leu) rs770263378 0.00001
NM_001330260.2(SCN8A):c.3356C>T (p.Pro1119Leu) rs372096102 0.00001
NM_001330260.2(SCN8A):c.3373-7T>G rs1942896252 0.00001
NM_001330260.2(SCN8A):c.363A>G (p.Ile121Met) rs752190543 0.00001
NM_001330260.2(SCN8A):c.3640G>A (p.Ala1214Thr) rs769243993 0.00001
NM_001330260.2(SCN8A):c.3722A>G (p.Tyr1241Cys) rs796053213 0.00001
NM_001330260.2(SCN8A):c.3761A>G (p.Tyr1254Cys) rs1199744177 0.00001
NM_001330260.2(SCN8A):c.3948G>C (p.Val1316=) rs1592162425 0.00001
NM_001330260.2(SCN8A):c.4281+8T>C rs1196004930 0.00001
NM_001330260.2(SCN8A):c.457A>C (p.Asn153His) rs796053232 0.00001
NM_001330260.2(SCN8A):c.4687A>G (p.Ile1563Val) rs751979396 0.00001
NM_001330260.2(SCN8A):c.4780A>C (p.Ile1594Leu) rs752829853 0.00001
NM_001330260.2(SCN8A):c.5034C>T (p.His1678=) rs533725421 0.00001
NM_001330260.2(SCN8A):c.5035G>A (p.Glu1679Lys) rs796053225 0.00001
NM_001330260.2(SCN8A):c.5385C>T (p.Phe1795=) rs748215769 0.00001
NM_001330260.2(SCN8A):c.5391C>T (p.Pro1797=) rs372155701 0.00001
NM_001330260.2(SCN8A):c.5583G>C (p.Glu1861Asp) rs1352614116 0.00001
NM_001330260.2(SCN8A):c.5675G>A (p.Arg1892His) rs1565934531 0.00001
NM_001330260.2(SCN8A):c.5809A>C (p.Ser1937Arg) rs796053230 0.00001
NM_001330260.2(SCN8A):c.5835G>A (p.Pro1945=) rs776428412 0.00001
NM_001330260.2(SCN8A):c.5847T>C (p.Ser1949=) rs751637843 0.00001
NM_001330260.2(SCN8A):c.615-291G>A rs553857771 0.00001
NM_001330260.2(SCN8A):c.888C>G (p.Gly296=) rs565852557 0.00001
NM_001330260.2(SCN8A):c.903T>C (p.Asp301=) rs759557451 0.00001
NM_001330260.2(SCN8A):c.929-4C>G rs771227940 0.00001
NM_014191.4(SCN8A):c.1831C>T (p.Arg611Trp) rs745847594 0.00001
NM_001330260.2(SCN8A):c.1043A>G (p.Tyr348Cys)
NM_001330260.2(SCN8A):c.1052C>T (p.Thr351Ile)
NM_001330260.2(SCN8A):c.1064C>T (p.Thr355Ile) rs2138742443
NM_001330260.2(SCN8A):c.1094G>A (p.Arg365His) rs1592390511
NM_001330260.2(SCN8A):c.1099A>G (p.Met367Val) rs796053209
NM_001330260.2(SCN8A):c.1118A>G (p.Glu373Gly) rs1555219158
NM_001330260.2(SCN8A):c.1134+324TTTTG[6] rs5798183
NM_001330260.2(SCN8A):c.1141C>T (p.Arg381Ter) rs1057519210
NM_001330260.2(SCN8A):c.1168T>A (p.Phe390Ile) rs2138748076
NM_001330260.2(SCN8A):c.1197T>C (p.Ser399=) rs1592392783
NM_001330260.2(SCN8A):c.1214T>G (p.Leu405Trp)
NM_001330260.2(SCN8A):c.1217T>A (p.Ile406Asn) rs1565893686
NM_001330260.2(SCN8A):c.1219T>A (p.Leu407Met) rs1555219495
NM_001330260.2(SCN8A):c.1239T>C (p.Ala413=) rs2138748288
NM_001330260.2(SCN8A):c.1241A>T (p.Tyr414Phe) rs794727000
NM_001330260.2(SCN8A):c.1337C>T (p.Ala446Val)
NM_001330260.2(SCN8A):c.1342-3T>G rs1131691459
NM_001330260.2(SCN8A):c.1400G>T (p.Gly467Val) rs1398266993
NM_001330260.2(SCN8A):c.1402G>A (p.Glu468Lys) rs1555219703
NM_001330260.2(SCN8A):c.1406A>G (p.Glu469Gly)
NM_001330260.2(SCN8A):c.1437A>T (p.Glu479Asp)
NM_001330260.2(SCN8A):c.1474C>A (p.Arg492Ser)
NM_001330260.2(SCN8A):c.1511_1512del (p.Leu503_Ser504insTer) rs2138750473
NM_001330260.2(SCN8A):c.1537G>A (p.Glu513Lys)
NM_001330260.2(SCN8A):c.1541A>G (p.Lys514Arg) rs1592393860
NM_001330260.2(SCN8A):c.1570A>G (p.Met524Val) rs886042925
NM_001330260.2(SCN8A):c.1599C>A (p.Asp533Glu) rs2138750756
NM_001330260.2(SCN8A):c.1603A>T (p.Arg535Ter) rs1555219864
NM_001330260.2(SCN8A):c.1613G>A (p.Arg538Lys) rs1057518528
NM_001330260.2(SCN8A):c.1635+67G>A rs10783474
NM_001330260.2(SCN8A):c.1636-16del rs754973942
NM_001330260.2(SCN8A):c.1661C>T (p.Pro554Leu)
NM_001330260.2(SCN8A):c.1672C>T (p.Arg558Cys)
NM_001330260.2(SCN8A):c.1676A>G (p.His559Arg)
NM_001330260.2(SCN8A):c.1715G>A (p.Gly572Glu) rs1085307867
NM_001330260.2(SCN8A):c.1717C>A (p.Arg573=) rs370074236
NM_001330260.2(SCN8A):c.1759G>T (p.Glu587Ter) rs1131691327
NM_001330260.2(SCN8A):c.1816C>T (p.Arg606Trp)
NM_001330260.2(SCN8A):c.1829G>T (p.Arg610Leu) rs1438139623
NM_001330260.2(SCN8A):c.1846GGCTACAGC[1] (p.616GYS[1]) rs758276968
NM_001330260.2(SCN8A):c.1846GGCTACAGC[3] (p.616GYS[3]) rs758276968
NM_001330260.2(SCN8A):c.1883G>T (p.Arg628Leu)
NM_001330260.2(SCN8A):c.1884C>T (p.Arg628=) rs1387548452
NM_001330260.2(SCN8A):c.1893C>T (p.Pro631=)
NM_001330260.2(SCN8A):c.1912_1944dup (p.Val648_Val649insLysArgAsnSerThrValAspCysAsnGlyVal)
NM_001330260.2(SCN8A):c.1916G>C (p.Arg639Pro)
NM_001330260.2(SCN8A):c.1919A>C (p.Asn640Thr) rs1332024650
NM_001330260.2(SCN8A):c.1941C>T (p.Gly647=)
NM_001330260.2(SCN8A):c.1960G>A (p.Gly654Ser) rs905574009
NM_001330260.2(SCN8A):c.1969T>G (p.Ser657Ala) rs1429377869
NM_001330260.2(SCN8A):c.1984C>T (p.Arg662Cys) rs76222829
NM_001330260.2(SCN8A):c.1995A>G (p.Pro665=) rs1231370273
NM_001330260.2(SCN8A):c.1999-5del rs769940455
NM_001330260.2(SCN8A):c.1999-5dup rs769940455
NM_001330260.2(SCN8A):c.2048T>C (p.Val683Ala) rs2138828731
NM_001330260.2(SCN8A):c.2067C>T (p.Ala689=) rs773463881
NM_001330260.2(SCN8A):c.2078G>A (p.Arg693Gln)
NM_001330260.2(SCN8A):c.2092A>G (p.Asn698Asp) rs2138828904
NM_001330260.2(SCN8A):c.2105G>C (p.Ser702Thr) rs2138828935
NM_001330260.2(SCN8A):c.2188T>C (p.Phe730Leu) rs923938885
NM_001330260.2(SCN8A):c.2252T>C (p.Met751Thr)
NM_001330260.2(SCN8A):c.2287A>G (p.Ile763Val) rs794727128
NM_001330260.2(SCN8A):c.2301A>G (p.Thr767=)
NM_001330260.2(SCN8A):c.2314A>G (p.Met772Val)
NM_001330260.2(SCN8A):c.2359G>A (p.Val787Ile) rs1178470597
NM_001330260.2(SCN8A):c.2363G>A (p.Gly788Glu)
NM_001330260.2(SCN8A):c.2371-32A>C rs303767
NM_001330260.2(SCN8A):c.2387T>C (p.Phe796Ser) rs1555225481
NM_001330260.2(SCN8A):c.2441A>G (p.Gln814Arg)
NM_001330260.2(SCN8A):c.2447G>A (p.Gly816Asp) rs2138857757
NM_001330260.2(SCN8A):c.2509G>A (p.Val837Met) rs2138857855
NM_001330260.2(SCN8A):c.2525T>A (p.Val842Glu) rs1085307940
NM_001330260.2(SCN8A):c.2530C>T (p.Arg844Ter) rs1555225521
NM_001330260.2(SCN8A):c.2533T>C (p.Ser845Pro) rs1057518356
NM_001330260.2(SCN8A):c.2534C>T (p.Ser845Phe) rs796053210
NM_001330260.2(SCN8A):c.2537T>C (p.Phe846Ser) rs879255700
NM_001330260.2(SCN8A):c.2539C>T (p.Arg847Ter) rs1555225532
NM_001330260.2(SCN8A):c.2540G>A (p.Arg847Gln)
NM_001330260.2(SCN8A):c.2543T>G (p.Leu848Trp) rs886043686
NM_001330260.2(SCN8A):c.2544+85del rs11327450
NM_001330260.2(SCN8A):c.2545-7dup rs56879517
NM_001330260.2(SCN8A):c.2545-8_2545-7dup rs56879517
NM_001330260.2(SCN8A):c.2548C>T (p.Arg850Ter) rs1555225782
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.2572T>G (p.Trp858Gly)
NM_001330260.2(SCN8A):c.2603T>C (p.Ile868Thr) rs1555225794
NM_001330260.2(SCN8A):c.2609A>G (p.Asn870Ser) rs2138862664
NM_001330260.2(SCN8A):c.2620G>T (p.Ala874Ser) rs1057524820
NM_001330260.2(SCN8A):c.2654T>C (p.Ile885Thr) rs1942829127
NM_001330260.2(SCN8A):c.2675T>C (p.Val892Ala)
NM_001330260.2(SCN8A):c.2685A>G (p.Gln895=) rs528126331
NM_001330260.2(SCN8A):c.2726A>G (p.Asn909Ser)
NM_001330260.2(SCN8A):c.2746C>T (p.Arg916Cys)
NM_001330260.2(SCN8A):c.2753A>G (p.His918Arg)
NM_001330260.2(SCN8A):c.2792G>A (p.Arg931Gln) rs2138862977
NM_001330260.2(SCN8A):c.2827dup (p.Asp943fs) rs1592149876
NM_001330260.2(SCN8A):c.2890G>C (p.Gly964Arg) rs1057521662
NM_001330260.2(SCN8A):c.2901+35C>A
NM_001330260.2(SCN8A):c.2916del (p.Leu973fs) rs2138868015
NM_001330260.2(SCN8A):c.291A>T (p.Leu97Phe) rs2138707920
NM_001330260.2(SCN8A):c.2926C>T (p.Leu976Phe) rs1942877999
NM_001330260.2(SCN8A):c.2930T>C (p.Leu977Pro) rs1555226079
NM_001330260.2(SCN8A):c.2966A>T (p.Asp989Val) rs1942878597
NM_001330260.2(SCN8A):c.2967T>A (p.Asp989Glu)
NM_001330260.2(SCN8A):c.3035A>C (p.Lys1012Thr)
NM_001330260.2(SCN8A):c.3060G>A (p.Gln1020=) rs528718802
NM_001330260.2(SCN8A):c.307C>A (p.Leu103Ile) rs1941382009
NM_001330260.2(SCN8A):c.3092T>C (p.Val1031Ala) rs1057524300
NM_001330260.2(SCN8A):c.3137C>A (p.Ala1046Asp) rs1344073985
NM_001330260.2(SCN8A):c.3149G>C (p.Gly1050Ala) rs2138868637
NM_001330260.2(SCN8A):c.3151G>C (p.Ala1051Pro)
NM_001330260.2(SCN8A):c.3205G>A (p.Gly1069Ser) rs1064796374
NM_001330260.2(SCN8A):c.3229T>C (p.Tyr1077His)
NM_001330260.2(SCN8A):c.3239A>G (p.Asp1080Gly)
NM_001330260.2(SCN8A):c.3244G>T (p.Asp1082Tyr)
NM_001330260.2(SCN8A):c.3307T>A (p.Ser1103Thr)
NM_001330260.2(SCN8A):c.3317A>C (p.Glu1106Ala) rs2138869049
NM_001330260.2(SCN8A):c.331G>A (p.Ala111Thr) rs796053231
NM_001330260.2(SCN8A):c.3364A>G (p.Ser1122Gly) rs554826191
NM_001330260.2(SCN8A):c.3377T>A (p.Leu1126Gln) rs977168749
NM_001330260.2(SCN8A):c.3377T>G (p.Leu1126Arg)
NM_001330260.2(SCN8A):c.3379G>A (p.Asp1127Asn)
NM_001330260.2(SCN8A):c.3382G>A (p.Asp1128Asn)
NM_001330260.2(SCN8A):c.3395C>T (p.Ser1132Phe)
NM_001330260.2(SCN8A):c.3416T>C (p.Ile1139Thr)
NM_001330260.2(SCN8A):c.3440del (p.Pro1147fs) rs2138870280
NM_001330260.2(SCN8A):c.3487G>A (p.Glu1163Lys) rs1555226298
NM_001330260.2(SCN8A):c.3490+258G>A rs303807
NM_001330260.2(SCN8A):c.3490+3G>A rs1592152117
NM_001330260.2(SCN8A):c.350C>T (p.Pro117Leu)
NM_001330260.2(SCN8A):c.3510G>A (p.Lys1170=)
NM_001330260.2(SCN8A):c.3512G>A (p.Cys1171Tyr) rs2138871534
NM_001330260.2(SCN8A):c.3563G>A (p.Arg1188Gln) rs1555226375
NM_001330260.2(SCN8A):c.3647C>T (p.Ala1216Val)
NM_001330260.2(SCN8A):c.3651C>T (p.Phe1217=)
NM_001330260.2(SCN8A):c.3669G>A (p.Glu1223=) rs1318771897
NM_001330260.2(SCN8A):c.3682A>G (p.Ile1228Val)
NM_001330260.2(SCN8A):c.3706G>A (p.Asp1236Asn)
NM_001330260.2(SCN8A):c.3724A>G (p.Ile1242Val)
NM_001330260.2(SCN8A):c.3739A>T (p.Met1247Leu)
NM_001330260.2(SCN8A):c.3806T>C (p.Phe1269Ser)
NM_001330260.2(SCN8A):c.3820-242_3820-240del rs551179604
NM_001330260.2(SCN8A):c.3830T>A (p.Val1277Asp) rs1057524050
NM_001330260.2(SCN8A):c.3860C>T (p.Ser1287Leu)
NM_001330260.2(SCN8A):c.3895A>T (p.Arg1299Ter) rs1064796430
NM_001330260.2(SCN8A):c.3914G>C (p.Arg1305Thr) rs61618583
NM_001330260.2(SCN8A):c.3922T>C (p.Ser1308Pro) rs2138892868
NM_001330260.2(SCN8A):c.3926G>A (p.Arg1309Gln) rs201255617
NM_001330260.2(SCN8A):c.3939G>A (p.Met1313Ile) rs1085307546
NM_001330260.2(SCN8A):c.3939G>T (p.Met1313Ile)
NM_001330260.2(SCN8A):c.3943G>T (p.Val1315Leu) rs1555228303
NM_001330260.2(SCN8A):c.3945G>A (p.Val1315=) rs1555228304
NM_001330260.2(SCN8A):c.395+243del rs59513447
NM_001330260.2(SCN8A):c.395+327G>A rs186365625
NM_001330260.2(SCN8A):c.3953A>G (p.Asn1318Ser) rs1592162430
NM_001330260.2(SCN8A):c.3955G>T (p.Ala1319Ser) rs796053214
NM_001330260.2(SCN8A):c.396-1C>T
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr) rs794727361
NM_001330260.2(SCN8A):c.396A>G (p.Ser132=)
NM_001330260.2(SCN8A):c.3979A>G (p.Ile1327Val) rs879255704
NM_001330260.2(SCN8A):c.3985A>G (p.Asn1329Asp) rs794727362
NM_001330260.2(SCN8A):c.4115A>G (p.Asn1372Ser) rs2138904379
NM_001330260.2(SCN8A):c.4146_4147dup (p.Asn1383fs) rs1555228380
NM_001330260.2(SCN8A):c.4182C>A (p.Ile1394=) rs1938099830
NM_001330260.2(SCN8A):c.424A>G (p.Ile142Val) rs2138711868
NM_001330260.2(SCN8A):c.4275C>T (p.Ser1425=) rs1592163763
NM_001330260.2(SCN8A):c.4277G>A (p.Arg1426Gln) rs1057524240
NM_001330260.2(SCN8A):c.4282-10C>G rs369145855
NM_001330260.2(SCN8A):c.4320G>T (p.Met1440Ile)
NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser) rs863223345
NM_001330260.2(SCN8A):c.4357TTC[1] (p.Phe1454del) rs2138909604
NM_001330260.2(SCN8A):c.435C>G (p.Asn145Lys) rs1057522588
NM_001330260.2(SCN8A):c.4371C>A (p.Asn1457Lys) rs2138909619
NM_001330260.2(SCN8A):c.4378A>G (p.Ile1460Val) rs2138909633
NM_001330260.2(SCN8A):c.4391T>C (p.Ile1464Thr) rs2138909658
NM_001330260.2(SCN8A):c.439G>A (p.Val147Ile)
NM_001330260.2(SCN8A):c.4408C>G (p.Gln1470Glu)
NM_001330260.2(SCN8A):c.4411A>C (p.Lys1471Gln) rs1057521767
NM_001330260.2(SCN8A):c.4412A>T (p.Lys1471Met) rs1057519120
NM_001330260.2(SCN8A):c.4419+1A>G rs1064793722
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_001330260.2(SCN8A):c.4426G>A (p.Gly1476Ser) rs1064793263
NM_001330260.2(SCN8A):c.4438T>A (p.Phe1480Ile) rs796053218
NM_001330260.2(SCN8A):c.4438T>C (p.Phe1480Leu) rs796053218
NM_001330260.2(SCN8A):c.4441A>G (p.Met1481Val) rs886041670
NM_001330260.2(SCN8A):c.4447G>A (p.Glu1483Lys) rs879255652
NM_001330260.2(SCN8A):c.4465T>C (p.Tyr1489His)
NM_001330260.2(SCN8A):c.4471G>A (p.Ala1491Thr) rs1592164705
NM_001330260.2(SCN8A):c.4472C>T (p.Ala1491Val) rs796053220
NM_001330260.2(SCN8A):c.4492A>G (p.Lys1498Glu) rs1555228931
NM_001330260.2(SCN8A):c.4496A>G (p.Lys1499Arg) rs1938216429
NM_001330260.2(SCN8A):c.4501C>A (p.Gln1501Lys) rs1057520149
NM_001330260.2(SCN8A):c.4540A>G (p.Ile1514Val) rs2138918984
NM_001330260.2(SCN8A):c.4575C>G (p.Asp1525Glu)
NM_001330260.2(SCN8A):c.4584C>A (p.Ile1528=)
NM_001330260.2(SCN8A):c.4585A>G (p.Met1529Val) rs2138919124
NM_001330260.2(SCN8A):c.4594A>G (p.Ile1532Val) rs1555229496
NM_001330260.2(SCN8A):c.4629A>G (p.Thr1543=)
NM_001330260.2(SCN8A):c.4664A>T (p.Tyr1555Phe)
NM_001330260.2(SCN8A):c.4683_4686del (p.Phe1561fs)
NM_001330260.2(SCN8A):c.4693T>C (p.Phe1565Leu)
NM_001330260.2(SCN8A):c.4715A>G (p.Lys1572Arg) rs756839708
NM_001330260.2(SCN8A):c.4771G>A (p.Val1591Met) rs1565929209
NM_001330260.2(SCN8A):c.4787C>G (p.Ser1596Cys) rs879255705
NM_001330260.2(SCN8A):c.4798A>G (p.Met1600Val) rs796053221
NM_001330260.2(SCN8A):c.4800G>A (p.Met1600Ile) rs1565933795
NM_001330260.2(SCN8A):c.4814T>C (p.Ile1605Thr) rs2138942209
NM_001330260.2(SCN8A):c.4819G>A (p.Glu1607Lys) rs1555230905
NM_001330260.2(SCN8A):c.4840A>G (p.Thr1614Ala) rs1555230909
NM_001330260.2(SCN8A):c.4849C>T (p.Arg1617Ter) rs770166890
NM_001330260.2(SCN8A):c.485+311del rs142597756
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_001330260.2(SCN8A):c.4861T>C (p.Leu1621=) rs2138942326
NM_001330260.2(SCN8A):c.4862T>G (p.Leu1621Trp) rs879255707
NM_001330260.2(SCN8A):c.4867C>T (p.Arg1623Cys) rs867420193
NM_001330260.2(SCN8A):c.4870A>G (p.Ile1624Val) rs2138942352
NM_001330260.2(SCN8A):c.4873G>T (p.Gly1625Trp) rs879255708
NM_001330260.2(SCN8A):c.4876C>T (p.Arg1626Cys) rs2138942373
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)
NM_001330260.2(SCN8A):c.4877G>T (p.Arg1626Leu) rs886044328
NM_001330260.2(SCN8A):c.4879A>C (p.Ile1627Leu) rs1131691414
NM_001330260.2(SCN8A):c.4880T>A (p.Ile1627Asn) rs1938702028
NM_001330260.2(SCN8A):c.4883T>G (p.Leu1628Trp) rs1555230928
NM_001330260.2(SCN8A):c.4892T>A (p.Ile1631Asn) rs1085307999
NM_001330260.2(SCN8A):c.4912C>T (p.Arg1638Cys) rs1938703307
NM_001330260.2(SCN8A):c.4913G>A (p.Arg1638His) rs1064794873
NM_001330260.2(SCN8A):c.4916C>T (p.Thr1639Ile) rs2138942509
NM_001330260.2(SCN8A):c.4933A>G (p.Met1645Val) rs1938703803
NM_001330260.2(SCN8A):c.4936A>T (p.Met1646Leu) rs796053223
NM_001330260.2(SCN8A):c.4948G>A (p.Ala1650Thr) rs879255709
NM_001330260.2(SCN8A):c.4949C>T (p.Ala1650Val) rs796053224
NM_001330260.2(SCN8A):c.4958A>G (p.Asn1653Ser) rs2138942613
NM_001330260.2(SCN8A):c.497C>T (p.Thr166Ile) rs1057520361
NM_001330260.2(SCN8A):c.4983C>T (p.Val1661=) rs1938705533
NM_001330260.2(SCN8A):c.5047G>A (p.Asp1683Asn) rs1023188648
NM_001330260.2(SCN8A):c.5108C>A (p.Thr1703Asn) rs2138942878
NM_001330260.2(SCN8A):c.5110T>A (p.Ser1704Thr) rs2138942888
NM_001330260.2(SCN8A):c.5149C>T (p.Arg1717Cys)
NM_001330260.2(SCN8A):c.5152C>T (p.Pro1718Ser) rs794727442
NM_001330260.2(SCN8A):c.5156dup (p.Pro1719_Asp1720insTer) rs2138942971
NM_001330260.2(SCN8A):c.5157del (p.Asp1720fs) rs2138943001
NM_001330260.2(SCN8A):c.5163C>T (p.Cys1721=) rs1555230976
NM_001330260.2(SCN8A):c.5167C>T (p.Leu1723=) rs1031935135
NM_001330260.2(SCN8A):c.5170G>T (p.Asp1724Tyr) rs1176149836
NM_001330260.2(SCN8A):c.5179C>A (p.His1727Asn)
NM_001330260.2(SCN8A):c.5181C>A (p.His1727Gln) rs1057519190
NM_001330260.2(SCN8A):c.5229CTT[2] (p.Phe1746del) rs1565934130
NM_001330260.2(SCN8A):c.5256C>G (p.Ile1752Met)
NM_001330260.2(SCN8A):c.5267T>G (p.Ile1756Ser)
NM_001330260.2(SCN8A):c.5272G>A (p.Val1758Met)
NM_001330260.2(SCN8A):c.5280G>A (p.Met1760Ile) rs1555231013
NM_001330260.2(SCN8A):c.5311G>A (p.Val1771Ile)
NM_001330260.2(SCN8A):c.5360C>A (p.Thr1787Asn) rs1131691830
NM_001330260.2(SCN8A):c.5362T>G (p.Phe1788Val)
NM_001330260.2(SCN8A):c.5366A>G (p.Tyr1789Cys) rs961205540
NM_001330260.2(SCN8A):c.5382G>A (p.Lys1794=) rs779027899
NM_001330260.2(SCN8A):c.5386G>A (p.Asp1796Asn)
NM_001330260.2(SCN8A):c.5412G>C (p.Glu1804Asp) rs765354280
NM_001330260.2(SCN8A):c.5417G>A (p.Cys1806Tyr) rs796053226
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_001330260.2(SCN8A):c.5480T>C (p.Ile1827Thr) rs1938719619
NM_001330260.2(SCN8A):c.5506A>T (p.Met1836Leu) rs202187894
NM_001330260.2(SCN8A):c.550A>G (p.Ile184Val) rs1029149299
NM_001330260.2(SCN8A):c.5531G>C (p.Cys1844Ser)
NM_001330260.2(SCN8A):c.5547T>G (p.Phe1849Leu) rs2138943950
NM_001330260.2(SCN8A):c.5555C>T (p.Thr1852Ile) rs796053227
NM_001330260.2(SCN8A):c.5561G>A (p.Arg1854Gln)
NM_001330260.2(SCN8A):c.5564T>A (p.Val1855Asp) rs2138943984
NM_001330260.2(SCN8A):c.5575A>G (p.Ser1859Gly) rs1938722293
NM_001330260.2(SCN8A):c.5584T>G (p.Leu1862Val)
NM_001330260.2(SCN8A):c.5593C>G (p.Leu1865Val) rs1288157626
NM_001330260.2(SCN8A):c.5596C>T (p.Arg1866Trp) rs1938723469
NM_001330260.2(SCN8A):c.5597G>A (p.Arg1866Gln) rs1555231108
NM_001330260.2(SCN8A):c.5598del (p.Gln1867fs) rs2138944107
NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr) rs1064794727
NM_001330260.2(SCN8A):c.5614C>G (p.Arg1872Gly) rs796053228
NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp) rs796053228
NM_001330260.2(SCN8A):c.5615G>A (p.Arg1872Gln) rs796053229
NM_001330260.2(SCN8A):c.5615G>T (p.Arg1872Leu) rs796053229
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001330260.2(SCN8A):c.5636C>A (p.Ser1879Tyr)
NM_001330260.2(SCN8A):c.5636C>T (p.Ser1879Phe)
NM_001330260.2(SCN8A):c.5638A>G (p.Lys1880Glu) rs1555231128
NM_001330260.2(SCN8A):c.5672G>A (p.Arg1891His) rs1555231135
NM_001330260.2(SCN8A):c.5694T>A (p.Ser1898=)
NM_001330260.2(SCN8A):c.5699T>C (p.Val1900Ala) rs1064796694
NM_001330260.2(SCN8A):c.5744T>C (p.Phe1915Ser) rs2138944589
NM_001330260.2(SCN8A):c.5769T>C (p.Asn1923=)
NM_001330260.2(SCN8A):c.5835G>T (p.Pro1945=) rs776428412
NM_001330260.2(SCN8A):c.5840A>G (p.Tyr1947Cys)
NM_001330260.2(SCN8A):c.5841T>C (p.Tyr1947=) rs1592175176
NM_001330260.2(SCN8A):c.5852C>G (p.Thr1951Ser) rs2138944903
NM_001330260.2(SCN8A):c.5879G>T (p.Arg1960Leu)
NM_001330260.2(SCN8A):c.5891_5894del (p.Gly1964fs) rs1555231202
NM_001330260.2(SCN8A):c.5904_5905del (p.Arg1968fs) rs1938738246
NM_001330260.2(SCN8A):c.5911A>G (p.Arg1971Gly)
NM_001330260.2(SCN8A):c.5936A>C (p.Lys1979Thr) rs1938739577
NM_001330260.2(SCN8A):c.5943GAG[1] (p.Ter1981=) rs555793953
NM_001330260.2(SCN8A):c.605T>A (p.Ile202Asn) rs886042939
NM_001330260.2(SCN8A):c.614C>A (p.Ala205Glu) rs796053233
NM_001330260.2(SCN8A):c.614C>T (p.Ala205Val) rs796053233
NM_001330260.2(SCN8A):c.615-148G>A rs1592380710
NM_001330260.2(SCN8A):c.615-247dup
NM_001330260.2(SCN8A):c.653C>A (p.Ala218Glu)
NM_001330260.2(SCN8A):c.658A>T (p.Arg220Ter)
NM_001330260.2(SCN8A):c.668G>C (p.Arg223Thr) rs1592380859
NM_001330260.2(SCN8A):c.669G>C (p.Arg223Ser) rs2138716709
NM_001330260.2(SCN8A):c.707-318A>T rs73297665
NM_001330260.2(SCN8A):c.718A>C (p.Ile240Leu) rs1064793923
NM_001330260.2(SCN8A):c.718A>G (p.Ile240Val) rs1064793923
NM_001330260.2(SCN8A):c.735T>A (p.Ile245=) rs1592387863
NM_001330260.2(SCN8A):c.752T>G (p.Leu251Arg) rs1941649906
NM_001330260.2(SCN8A):c.769C>G (p.Leu257Val) rs1064794782
NM_001330260.2(SCN8A):c.802A>C (p.Ile268Leu) rs1085308013
NM_001330260.2(SCN8A):c.802A>T (p.Ile268Phe) rs1085308013
NM_001330260.2(SCN8A):c.805G>A (p.Gly269Arg) rs1555218644
NM_001330260.2(SCN8A):c.811C>T (p.Gln271Ter)
NM_001330260.2(SCN8A):c.813G>C (p.Gln271His)
NM_001330260.2(SCN8A):c.817T>C (p.Phe273Leu) rs796053234
NM_001330260.2(SCN8A):c.859A>C (p.Asn287His) rs2138735873
NM_001330260.2(SCN8A):c.887G>A (p.Gly296Asp) rs1941653003
NM_001330260.2(SCN8A):c.892_894dup (p.Lys298_Gly299insLys)
NM_001330260.2(SCN8A):c.896G>A (p.Gly299Asp)
NM_001330260.2(SCN8A):c.914A>G (p.Tyr305Cys)
NM_001330260.2(SCN8A):c.920A>G (p.Asn307Ser) rs1057519557
NM_001330260.2(SCN8A):c.928+5G>A rs2138736067
NM_001330260.2(SCN8A):c.979A>C (p.Ser327Arg) rs776048628
NM_001330260.2(SCN8A):c.980G>C (p.Ser327Thr)
NM_001330260.2(SCN8A):c.993-90_993-50del rs56947442
NM_014191.3:c.-54-?_*5435+?dup
NM_014191.4(SCN8A):c.615-1G>A rs1555217342
NM_014191.4(SCN8A):c.630T>C (p.Phe210=) rs2138716083
NM_014191.4(SCN8A):c.632T>C (p.Val211Ala) rs1057518487
NM_014191.4(SCN8A):c.641G>A (p.Gly214Asp) rs879255694
NM_014191.4(SCN8A):c.649T>C (p.Ser217Pro) rs1064794715
NM_014191.4(SCN8A):c.655C>G (p.Leu219Val)
NM_014191.4(SCN8A):c.669G>T (p.Arg223Ser) rs1592380672
NM_014191.4(SCN8A):c.706+1G>A rs2138716241

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