ClinVar Miner

List of variants in gene SCN8A

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1950
Download table as spreadsheet
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.4795+1141G>A rs671255 0.62236
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.4281+13A>G rs9943809 0.08096
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.1833G>T (p.Arg611=) rs35242963 0.01438
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.4779C>T (p.Val1593=) rs12301486 0.01369
NM_001330260.2(SCN8A):c.4795+11T>C rs143139673 0.01136
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.928+9C>T rs148027656 0.00397
NM_001330260.2(SCN8A):c.614+313C>T rs139226002 0.00386
NM_001330260.2(SCN8A):c.*3706del rs560775301 0.00338
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.4278G>A (p.Arg1426=) rs143867796 0.00183
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.*2235_*2236del rs556349961 0.00093
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.2371-6A>G rs187002252 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.1998+15G>T rs375797844 0.00048
NM_001330260.2(SCN8A):c.4543G>A (p.Val1515Ile) rs184568764 0.00048
NM_001330260.2(SCN8A):c.5514C>T (p.Ser1838=) rs372388512 0.00045
NM_001330260.2(SCN8A):c.706+41C>G rs540984006 0.00044
NM_001330260.2(SCN8A):c.992+10T>A rs367746278 0.00038
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.707-15A>T rs149586118 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.2370+14_2370+15del rs768088808 0.00023
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.751C>T (p.Leu251=) rs200307006 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.369A>G (p.Arg123=) rs201765273 0.00015
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.1998+8T>C rs749881958 0.00012
NM_001330260.2(SCN8A):c.3373-9C>T rs770747359 0.00012
NM_001330260.2(SCN8A):c.1341+9T>C rs373377688 0.00011
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.1954A>G (p.Ile652Val) rs1048609401 0.00010
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.615-17G>C rs772641973 0.00009
NM_001330260.2(SCN8A):c.3423A>G (p.Pro1141=) rs376102810 0.00008
NM_001330260.2(SCN8A):c.2970C>T (p.Asp990=) rs74798508 0.00007
NM_001330260.2(SCN8A):c.3942+7T>C rs757990460 0.00007
NM_001330260.2(SCN8A):c.855C>T (p.Pro285=) rs200784857 0.00007
NM_001330260.2(SCN8A):c.-67C>T rs374729451 0.00006
NM_001330260.2(SCN8A):c.1149C>T (p.Ala383=) rs201402959 0.00006
NM_001330260.2(SCN8A):c.1509C>A (p.Leu503=) rs376749872 0.00006
NM_001330260.2(SCN8A):c.1536C>T (p.Pro512=) rs770320050 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.3490+11A>T rs770510526 0.00006
NM_001330260.2(SCN8A):c.360G>C (p.Leu120=) rs368307928 0.00006
NM_001330260.2(SCN8A):c.3710A>G (p.Lys1237Arg) rs377197765 0.00006
NM_001330260.2(SCN8A):c.3966C>T (p.Gly1322=) rs775267842 0.00006
NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln) rs369346315 0.00006
NM_001330260.2(SCN8A):c.615-143G>A rs376385273 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.*5G>A rs747815156 0.00005
NM_001330260.2(SCN8A):c.1611G>A (p.Gly537=) rs774383541 0.00005
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.3351G>A (p.Ser1117=) rs776017244 0.00005
NM_001330260.2(SCN8A):c.3442G>A (p.Val1148Met) rs536452913 0.00005
NM_001330260.2(SCN8A):c.3942+15G>A rs757263803 0.00005
NM_001330260.2(SCN8A):c.4350C>T (p.Phe1450=) rs753234714 0.00005
NM_001330260.2(SCN8A):c.474G>A (p.Ser158=) rs374989727 0.00005
NM_001330260.2(SCN8A):c.5490C>T (p.Ile1830=) rs200546525 0.00005
NM_014191.4(SCN8A):c.657A>G (p.Leu219=) rs773009820 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.1335G>A (p.Glu445=) rs576113589 0.00004
NM_001330260.2(SCN8A):c.1431T>A (p.Ser477=) rs746262411 0.00004
NM_001330260.2(SCN8A):c.1692C>T (p.Ser564=) rs368959256 0.00004
NM_001330260.2(SCN8A):c.1999-4A>T rs765240974 0.00004
NM_001330260.2(SCN8A):c.2281A>G (p.Ile761Val) rs544063018 0.00004
NM_001330260.2(SCN8A):c.2463C>T (p.Asp821=) rs773865400 0.00004
NM_001330260.2(SCN8A):c.2802C>T (p.Cys934=) rs762791287 0.00004
NM_001330260.2(SCN8A):c.3061G>C (p.Ala1021Pro) rs781237471 0.00004
NM_001330260.2(SCN8A):c.3090G>A (p.Glu1030=) rs1057523246 0.00004
NM_001330260.2(SCN8A):c.3147C>T (p.Thr1049=) rs567527548 0.00004
NM_001330260.2(SCN8A):c.3373-8G>A rs1275858718 0.00004
NM_001330260.2(SCN8A):c.3490+8G>A rs1469519963 0.00004
NM_001330260.2(SCN8A):c.3491-10C>T rs373221046 0.00004
NM_001330260.2(SCN8A):c.3530A>G (p.Glu1177Gly) rs560509683 0.00004
NM_001330260.2(SCN8A):c.3819+13C>G rs754542157 0.00004
NM_001330260.2(SCN8A):c.402T>C (p.Phe134=) rs559668426 0.00004
NM_001330260.2(SCN8A):c.4524+20T>C rs145702447 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.5735G>A (p.Arg1912Lys) rs764108136 0.00004
NM_001330260.2(SCN8A):c.707-19G>A rs2306553 0.00004
NM_001330260.2(SCN8A):c.744G>A (p.Val248=) rs201298141 0.00004
NM_001330260.2(SCN8A):c.867C>T (p.Asn289=) rs375801783 0.00004
NM_001330260.2(SCN8A):c.1173C>T (p.Phe391=) rs886049582 0.00003
NM_001330260.2(SCN8A):c.1475G>A (p.Arg492His) rs750170064 0.00003
NM_001330260.2(SCN8A):c.1545G>T (p.Val515=) rs779561924 0.00003
NM_001330260.2(SCN8A):c.1737C>G (p.Ser579=) rs770853019 0.00003
NM_001330260.2(SCN8A):c.1770G>A (p.Thr590=) rs773379793 0.00003
NM_001330260.2(SCN8A):c.1897C>G (p.Leu633Val) rs751275472 0.00003
NM_001330260.2(SCN8A):c.1998+10G>C rs755729617 0.00003
NM_001330260.2(SCN8A):c.2056G>A (p.Asp686Asn) rs373073046 0.00003
NM_001330260.2(SCN8A):c.2628C>G (p.Gly876=) rs1466016560 0.00003
NM_001330260.2(SCN8A):c.2951A>G (p.Asn984Ser) rs373040746 0.00003
NM_001330260.2(SCN8A):c.3060G>C (p.Gln1020His) rs528718802 0.00003
NM_001330260.2(SCN8A):c.3163C>T (p.Arg1055Trp) rs370141803 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.3645+14G>C rs202031360 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.4134G>T (p.Lys1378Asn) rs752899010 0.00003
NM_001330260.2(SCN8A):c.4446C>T (p.Thr1482=) rs374059983 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.485+18G>A rs369368623 0.00003
NM_001330260.2(SCN8A):c.491C>T (p.Thr164Met) rs775272996 0.00003
NM_001330260.2(SCN8A):c.5007G>C (p.Gly1669=) rs371439977 0.00003
NM_001330260.2(SCN8A):c.5156_5157del (p.Pro1719fs) rs587776703 0.00003
NM_001330260.2(SCN8A):c.5271C>T (p.Val1757=) rs752174650 0.00003
NM_001330260.2(SCN8A):c.549C>T (p.Cys183=) rs767336706 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.1136C>T (p.Thr379Ile) rs761124273 0.00002
NM_001330260.2(SCN8A):c.1329G>A (p.Gln443=) rs1394886694 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.1818G>C (p.Arg606=) rs777424314 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.2067C>G (p.Ala689=) rs773463881 0.00002
NM_001330260.2(SCN8A):c.2073C>T (p.Tyr691=) rs146982102 0.00002
NM_001330260.2(SCN8A):c.2118T>C (p.Asn706=) rs555404940 0.00002
NM_001330260.2(SCN8A):c.2159C>T (p.Pro720Leu) rs373603736 0.00002
NM_001330260.2(SCN8A):c.2448T>C (p.Gly816=) rs545621709 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.288A>G (p.Val96=) rs761884033 0.00002
NM_001330260.2(SCN8A):c.2902-19T>C rs1424387561 0.00002
NM_001330260.2(SCN8A):c.2902-9C>T rs773347806 0.00002
NM_001330260.2(SCN8A):c.2979A>G (p.Glu993=) rs1454483862 0.00002
NM_001330260.2(SCN8A):c.3102G>A (p.Leu1034=) rs912679379 0.00002
NM_001330260.2(SCN8A):c.3219C>T (p.Ser1073=) rs771098374 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.3480C>T (p.Cys1160=) rs760251864 0.00002
NM_001330260.2(SCN8A):c.3528C>T (p.Ile1176=) rs369453843 0.00002
NM_001330260.2(SCN8A):c.3639C>T (p.Gly1213=) rs113227803 0.00002
NM_001330260.2(SCN8A):c.3643C>T (p.Leu1215=) rs532528307 0.00002
NM_001330260.2(SCN8A):c.3808C>T (p.Leu1270Phe) rs1375638748 0.00002
NM_001330260.2(SCN8A):c.3839T>C (p.Ile1280Thr) rs766666711 0.00002
NM_001330260.2(SCN8A):c.4005C>T (p.Leu1335=) rs1030141528 0.00002
NM_001330260.2(SCN8A):c.4206A>T (p.Gly1402=) rs762625933 0.00002
NM_001330260.2(SCN8A):c.420C>T (p.Cys140=) rs763742447 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.4524+12G>T rs370931597 0.00002
NM_001330260.2(SCN8A):c.4719G>A (p.Met1573Ile) rs780940263 0.00002
NM_001330260.2(SCN8A):c.4953G>T (p.Leu1651=) rs1169917584 0.00002
NM_001330260.2(SCN8A):c.5151C>T (p.Arg1717=) rs368067079 0.00002
NM_001330260.2(SCN8A):c.5458C>A (p.Arg1820=) rs747526439 0.00002
NM_001330260.2(SCN8A):c.5649C>T (p.Tyr1883=) rs769484993 0.00002
NM_001330260.2(SCN8A):c.5662A>T (p.Thr1888Ser) rs748964384 0.00002
NM_001330260.2(SCN8A):c.5794C>T (p.Arg1932Trp) rs773966403 0.00002
NM_001330260.2(SCN8A):c.624A>G (p.Thr208=) rs776597416 0.00002
NM_001330260.2(SCN8A):c.654G>A (p.Ala218=) rs762033775 0.00002
NM_001330260.2(SCN8A):c.706+9A>T rs1428314992 0.00002
NM_001330260.2(SCN8A):c.810G>A (p.Leu270=) rs377606066 0.00002
NM_001330260.2(SCN8A):c.814C>T (p.Leu272=) rs769727012 0.00002
NM_001330260.2(SCN8A):c.*6A>T rs771414635 0.00001
NM_001330260.2(SCN8A):c.-61C>T rs1032376116 0.00001
NM_001330260.2(SCN8A):c.1041C>T (p.Asn347=) rs763049043 0.00001
NM_001330260.2(SCN8A):c.1084G>T (p.Ala362Ser) rs1592390497 0.00001
NM_001330260.2(SCN8A):c.1086A>G (p.Ala362=) rs774882730 0.00001
NM_001330260.2(SCN8A):c.1104C>A (p.Thr368=) rs371872378 0.00001
NM_001330260.2(SCN8A):c.1131A>G (p.Gln377=) rs750815202 0.00001
NM_001330260.2(SCN8A):c.1134+7A>G rs1941715420 0.00001
NM_001330260.2(SCN8A):c.1135-13T>C rs1057520363 0.00001
NM_001330260.2(SCN8A):c.1152G>C (p.Gly384=) rs759112194 0.00001
NM_001330260.2(SCN8A):c.1155A>G (p.Lys385=) rs764896192 0.00001
NM_001330260.2(SCN8A):c.1165A>T (p.Ile389Phe) rs1334454056 0.00001
NM_001330260.2(SCN8A):c.1204C>T (p.Leu402=) rs1057522082 0.00001
NM_001330260.2(SCN8A):c.1278A>G (p.Glu426=) rs749572965 0.00001
NM_001330260.2(SCN8A):c.1339C>T (p.Gln447Ter) rs1060501012 0.00001
NM_001330260.2(SCN8A):c.1342-18C>T rs763911558 0.00001
NM_001330260.2(SCN8A):c.1342-8T>C rs371035550 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.1411G>A (p.Gly471Arg) rs748156622 0.00001
NM_001330260.2(SCN8A):c.1419C>T (p.Ser473=) rs747607755 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.1474C>T (p.Arg492Cys) rs576362165 0.00001
NM_001330260.2(SCN8A):c.1504G>A (p.Glu502Lys) rs201487381 0.00001
NM_001330260.2(SCN8A):c.1507C>G (p.Leu503Val) rs1022856027 0.00001
NM_001330260.2(SCN8A):c.1516G>A (p.Gly506Arg) rs758393038 0.00001
NM_001330260.2(SCN8A):c.1566T>C (p.Asp522=) rs768201816 0.00001
NM_001330260.2(SCN8A):c.1577G>A (p.Arg526Lys) rs773875275 0.00001
NM_001330260.2(SCN8A):c.1621T>G (p.Ser541Ala) rs753587420 0.00001
NM_001330260.2(SCN8A):c.1644C>T (p.Leu548=) rs1289888622 0.00001
NM_001330260.2(SCN8A):c.1666C>G (p.Leu556Val) rs773118948 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.1740G>A (p.Glu580=) rs776479136 0.00001
NM_001330260.2(SCN8A):c.1752G>A (p.Ala584=) rs775442359 0.00001
NM_001330260.2(SCN8A):c.1758C>T (p.Asp586=) rs553897060 0.00001
NM_001330260.2(SCN8A):c.1790G>A (p.Arg597His) rs755358223 0.00001
NM_001330260.2(SCN8A):c.1792C>T (p.Arg598Trp) rs1064796357 0.00001
NM_001330260.2(SCN8A):c.1801C>T (p.Leu601Phe) rs1374989397 0.00001
NM_001330260.2(SCN8A):c.1810C>T (p.Pro604Ser) rs1285097368 0.00001
NM_001330260.2(SCN8A):c.1814T>C (p.Ile605Thr) rs960926390 0.00001
NM_001330260.2(SCN8A):c.1817G>A (p.Arg606Gln) rs1359860813 0.00001
NM_001330260.2(SCN8A):c.1821C>G (p.Ala607=) rs1329004407 0.00001
NM_001330260.2(SCN8A):c.1828C>A (p.Arg610Ser) rs917515945 0.00001
NM_001330260.2(SCN8A):c.1830C>G (p.Arg610=) rs1178224820 0.00001
NM_001330260.2(SCN8A):c.1832G>A (p.Arg611Gln) rs866054004 0.00001
NM_001330260.2(SCN8A):c.1837A>G (p.Ser613Gly) rs749121003 0.00001
NM_001330260.2(SCN8A):c.1851C>T (p.Tyr617=) rs201848186 0.00001
NM_001330260.2(SCN8A):c.1874G>A (p.Arg625His) rs765763546 0.00001
NM_001330260.2(SCN8A):c.1880C>T (p.Ser627Leu) rs1198276041 0.00001
NM_001330260.2(SCN8A):c.1883G>C (p.Arg628Pro) rs763701191 0.00001
NM_001330260.2(SCN8A):c.1908C>T (p.Ser636=) rs1053543226 0.00001
NM_001330260.2(SCN8A):c.1915C>T (p.Arg639Cys) rs368345284 0.00001
NM_001330260.2(SCN8A):c.1926G>A (p.Thr642=) rs768639779 0.00001
NM_001330260.2(SCN8A):c.1998+7A>C rs1420786793 0.00001
NM_001330260.2(SCN8A):c.2003C>T (p.Thr668Ile) rs758253791 0.00001
NM_001330260.2(SCN8A):c.2042T>A (p.Leu681His) rs769132740 0.00001
NM_001330260.2(SCN8A):c.2058C>G (p.Asp686Glu) rs1208300274 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.2160G>A (p.Pro720=) rs967922373 0.00001
NM_001330260.2(SCN8A):c.2188T>G (p.Phe730Val) rs923938885 0.00001
NM_001330260.2(SCN8A):c.2290G>A (p.Val764Ile) rs1229931495 0.00001
NM_001330260.2(SCN8A):c.2371-18C>T rs1034484677 0.00001
NM_001330260.2(SCN8A):c.2389A>G (p.Thr797Ala) rs1482268495 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.2508C>T (p.Asp836=) rs772945312 0.00001
NM_001330260.2(SCN8A):c.2545-4T>G rs1175986621 0.00001
NM_001330260.2(SCN8A):c.2545-8_2545-7insC rs754698110 0.00001
NM_001330260.2(SCN8A):c.2565C>G (p.Ala855=) rs1267438332 0.00001
NM_001330260.2(SCN8A):c.2721G>C (p.Lys907Asn) rs1038198905 0.00001
NM_001330260.2(SCN8A):c.2733C>T (p.Asp911=) rs763201344 0.00001
NM_001330260.2(SCN8A):c.2928C>T (p.Leu976=) rs766935372 0.00001
NM_001330260.2(SCN8A):c.296G>C (p.Arg99Thr) rs370578497 0.00001
NM_001330260.2(SCN8A):c.3008G>A (p.Arg1003His) rs752402332 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.3045G>A (p.Val1015=) rs1357752989 0.00001
NM_001330260.2(SCN8A):c.3048C>T (p.His1016=) rs777076650 0.00001
NM_001330260.2(SCN8A):c.3084T>C (p.Ala1028=) rs772371811 0.00001
NM_001330260.2(SCN8A):c.3129C>G (p.Asn1043Lys) rs199680789 0.00001
NM_001330260.2(SCN8A):c.3136G>A (p.Ala1046Thr) rs775833241 0.00001
NM_001330260.2(SCN8A):c.3140A>G (p.Asn1047Ser) rs762469719 0.00001
NM_001330260.2(SCN8A):c.3150T>G (p.Gly1050=) rs552307188 0.00001
NM_001330260.2(SCN8A):c.3152C>T (p.Ala1051Val) rs376547086 0.00001
NM_001330260.2(SCN8A):c.3161A>C (p.His1054Pro) rs1060501009 0.00001
NM_001330260.2(SCN8A):c.3164G>A (p.Arg1055Gln) rs756127631 0.00001
NM_001330260.2(SCN8A):c.3183G>A (p.Lys1061=) rs749118803 0.00001
NM_001330260.2(SCN8A):c.3230A>G (p.Tyr1077Cys) rs746302474 0.00001
NM_001330260.2(SCN8A):c.324C>T (p.Ala108=) rs146485624 0.00001
NM_001330260.2(SCN8A):c.3256T>C (p.Phe1086Leu) rs1395703313 0.00001
NM_001330260.2(SCN8A):c.3264C>T (p.Asn1088=) rs763620762 0.00001
NM_001330260.2(SCN8A):c.3266A>G (p.Asn1089Ser) rs774119406 0.00001
NM_001330260.2(SCN8A):c.3269C>T (p.Pro1090Leu) rs767071719 0.00001
NM_001330260.2(SCN8A):c.327G>A (p.Thr109=) rs766693813 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.3364A>T (p.Ser1122Cys) rs554826191 0.00001
NM_001330260.2(SCN8A):c.3372T>G (p.Asp1124Glu) rs574382050 0.00001
NM_001330260.2(SCN8A):c.3373-7T>G rs1942896252 0.00001
NM_001330260.2(SCN8A):c.3435G>A (p.Glu1145=) rs771822630 0.00001
NM_001330260.2(SCN8A):c.3449A>C (p.Gln1150Pro) rs1050488287 0.00001
NM_001330260.2(SCN8A):c.3491-17T>C rs1463801833 0.00001
NM_001330260.2(SCN8A):c.3496G>A (p.Val1166Ile) rs376406345 0.00001
NM_001330260.2(SCN8A):c.3529G>A (p.Glu1177Lys) rs148742419 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.3645+19T>G rs1057521948 0.00001
NM_001330260.2(SCN8A):c.3646-15C>T rs1942972612 0.00001
NM_001330260.2(SCN8A):c.3681C>T (p.Thr1227=) rs771709180 0.00001
NM_001330260.2(SCN8A):c.3686G>A (p.Arg1229His) rs1020998191 0.00001
NM_001330260.2(SCN8A):c.3708C>T (p.Asp1236=) rs1353166540 0.00001
NM_001330260.2(SCN8A):c.3722A>G (p.Tyr1241Cys) rs796053213 0.00001
NM_001330260.2(SCN8A):c.372A>G (p.Ile124Met) rs574226931 0.00001
NM_001330260.2(SCN8A):c.3738G>A (p.Glu1246=) rs376953145 0.00001
NM_001330260.2(SCN8A):c.3761A>G (p.Tyr1254Cys) rs1199744177 0.00001
NM_001330260.2(SCN8A):c.3765C>T (p.Gly1255=) rs1478794416 0.00001
NM_001330260.2(SCN8A):c.3768C>T (p.Phe1256=) rs767706770 0.00001
NM_001330260.2(SCN8A):c.3948G>C (p.Val1316=) rs1592162425 0.00001
NM_001330260.2(SCN8A):c.395+12G>A rs777843626 0.00001
NM_001330260.2(SCN8A):c.396-3T>C rs752458453 0.00001
NM_001330260.2(SCN8A):c.396-5T>C rs764928471 0.00001
NM_001330260.2(SCN8A):c.3999G>A (p.Val1333=) rs796053208 0.00001
NM_001330260.2(SCN8A):c.4056G>A (p.Lys1352=) rs1254764629 0.00001
NM_001330260.2(SCN8A):c.4203A>G (p.Ala1401=) rs1395201809 0.00001
NM_001330260.2(SCN8A):c.4218T>C (p.Leu1406=) rs768214178 0.00001
NM_001330260.2(SCN8A):c.4281+8T>C rs1196004930 0.00001
NM_001330260.2(SCN8A):c.4517G>A (p.Arg1506His) rs760096460 0.00001
NM_001330260.2(SCN8A):c.4524+9A>G rs1938217961 0.00001
NM_001330260.2(SCN8A):c.4542C>T (p.Ile1514=) rs370105734 0.00001
NM_001330260.2(SCN8A):c.4548T>C (p.Phe1516=) rs367943033 0.00001
NM_001330260.2(SCN8A):c.4563G>A (p.Gln1521=) rs1234397024 0.00001
NM_001330260.2(SCN8A):c.457A>C (p.Asn153His) rs796053232 0.00001
NM_001330260.2(SCN8A):c.4593C>T (p.Leu1531=) rs371638930 0.00001
NM_001330260.2(SCN8A):c.4634C>T (p.Thr1545Ile) rs759753811 0.00001
NM_001330260.2(SCN8A):c.4644G>A (p.Lys1548=) rs753193934 0.00001
NM_001330260.2(SCN8A):c.4656C>T (p.Asn1552=) rs1343879999 0.00001
NM_001330260.2(SCN8A):c.4687A>G (p.Ile1563Val) rs751979396 0.00001
NM_001330260.2(SCN8A):c.4722T>G (p.Phe1574Leu) rs1377093609 0.00001
NM_001330260.2(SCN8A):c.4724C>T (p.Ala1575Val) rs182326351 0.00001
NM_001330260.2(SCN8A):c.4739A>G (p.Tyr1580Cys) rs1326992524 0.00001
NM_001330260.2(SCN8A):c.4743C>T (p.Phe1581=) rs919899554 0.00001
NM_001330260.2(SCN8A):c.4780A>C (p.Ile1594Leu) rs752829853 0.00001
NM_001330260.2(SCN8A):c.4796-8C>T rs758151653 0.00001
NM_001330260.2(SCN8A):c.4806G>A (p.Leu1602=) rs777710912 0.00001
NM_001330260.2(SCN8A):c.485+17T>C rs748436294 0.00001
NM_001330260.2(SCN8A):c.4884G>A (p.Leu1628=) rs749428493 0.00001
NM_001330260.2(SCN8A):c.4899C>T (p.Gly1633=) rs762240754 0.00001
NM_001330260.2(SCN8A):c.492G>A (p.Thr164=) rs762641381 0.00001
NM_001330260.2(SCN8A):c.4968T>C (p.Leu1656=) rs371478132 0.00001
NM_001330260.2(SCN8A):c.4978C>T (p.Leu1660=) rs1938705333 0.00001
NM_001330260.2(SCN8A):c.5025T>C (p.Tyr1675=) rs1395464489 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.508A>T (p.Thr170Ser) rs763847342 0.00001
NM_001330260.2(SCN8A):c.510A>G (p.Thr170=) rs773697137 0.00001
NM_001330260.2(SCN8A):c.5118T>C (p.Gly1706=) rs776753024 0.00001
NM_001330260.2(SCN8A):c.520C>G (p.Leu174Val) rs1941432036 0.00001
NM_001330260.2(SCN8A):c.5220A>G (p.Ser1740=) rs770554062 0.00001
NM_001330260.2(SCN8A):c.5304C>T (p.Asn1768=) rs201212878 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.5479A>G (p.Ile1827Val) rs764115258 0.00001
NM_001330260.2(SCN8A):c.5491G>A (p.Ala1831Thr) rs767305170 0.00001
NM_001330260.2(SCN8A):c.5583G>C (p.Glu1861Asp) rs1352614116 0.00001
NM_001330260.2(SCN8A):c.5613G>C (p.Glu1871Asp) rs1230372504 0.00001
NM_001330260.2(SCN8A):c.5628C>T (p.Ser1876=) rs200910225 0.00001
NM_001330260.2(SCN8A):c.564C>G (p.Thr188=) rs886049581 0.00001
NM_001330260.2(SCN8A):c.5675G>A (p.Arg1892His) rs1565934531 0.00001
NM_001330260.2(SCN8A):c.5687A>G (p.Glu1896Gly) rs761793809 0.00001
NM_001330260.2(SCN8A):c.5710C>T (p.Arg1904Cys) rs367984544 0.00001
NM_001330260.2(SCN8A):c.5711G>A (p.Arg1904His) rs142069713 0.00001
NM_001330260.2(SCN8A):c.5720G>A (p.Arg1907Gln) rs1442612004 0.00001
NM_001330260.2(SCN8A):c.5760A>C (p.Thr1920=) rs781617696 0.00001
NM_001330260.2(SCN8A):c.5760A>G (p.Thr1920=) rs781617696 0.00001
NM_001330260.2(SCN8A):c.5786G>C (p.Gly1929Ala) rs748909364 0.00001
NM_001330260.2(SCN8A):c.579A>G (p.Pro193=) rs755900174 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.5836T>A (p.Ser1946Thr) rs376076659 0.00001
NM_001330260.2(SCN8A):c.5847T>C (p.Ser1949=) rs751637843 0.00001
NM_001330260.2(SCN8A):c.5878C>T (p.Arg1960Trp) rs1021136260 0.00001
NM_001330260.2(SCN8A):c.5883A>G (p.Ala1961=) rs750830277 0.00001
NM_001330260.2(SCN8A):c.5890G>A (p.Gly1964Arg) rs756678417 0.00001
NM_001330260.2(SCN8A):c.5938T>A (p.Cys1980Ser) rs1322359113 0.00001
NM_001330260.2(SCN8A):c.615-151G>T rs1941461790 0.00001
NM_001330260.2(SCN8A):c.615-251G>A rs1356416543 0.00001
NM_001330260.2(SCN8A):c.615-291G>A rs553857771 0.00001
NM_001330260.2(SCN8A):c.639G>C (p.Leu213=) rs759294229 0.00001
NM_001330260.2(SCN8A):c.666C>T (p.Phe222=) rs1941465183 0.00001
NM_001330260.2(SCN8A):c.693C>T (p.Ile231=) rs1190792467 0.00001
NM_001330260.2(SCN8A):c.706+1G>A rs1259864188 0.00001
NM_001330260.2(SCN8A):c.707-20C>T rs541348760 0.00001
NM_001330260.2(SCN8A):c.726T>A (p.Gly242=) rs779319824 0.00001
NM_001330260.2(SCN8A):c.768C>A (p.Ile256=) rs1231477580 0.00001
NM_001330260.2(SCN8A):c.888C>G (p.Gly296=) rs565852557 0.00001
NM_001330260.2(SCN8A):c.902A>G (p.Asp301Gly) rs368726668 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_001330260.2(SCN8A):c.975G>A (p.Gly325=) rs765299562 0.00001
NM_001330260.2(SCN8A):c.992+8G>A rs764584884 0.00001
NM_001330260.2(SCN8A):c.996A>G (p.Gln332=) rs1057522020 0.00001
NM_014191.4(SCN8A):c.1831C>T (p.Arg611Trp) rs745847594 0.00001
NM_014191.4(SCN8A):c.618T>A (p.Tyr206Ter) rs1490133991 0.00001
GRCh37/hg19 12q13.13(chr12:51946335-52024220)x1
NC_000012.12:g.(?_51684154)_(51701227_?)del
NC_000012.12:g.(?_51780629)_(51780791_?)del
NM_001330260.2(SCN8A):c.*3914_*3917dup rs370929972
NM_001330260.2(SCN8A):c.*4785TG[10] rs371717199
NM_001330260.2(SCN8A):c.*4785TG[11] rs371717199
NM_001330260.2(SCN8A):c.*4785TG[7] rs371717199
NM_001330260.2(SCN8A):c.*4785TG[8] rs371717199
NM_001330260.2(SCN8A):c.-55+13A>G rs1555205506
NM_001330260.2(SCN8A):c.-55+20C>G rs926099486
NM_001330260.2(SCN8A):c.-70CGC[3]
NM_001330260.2(SCN8A):c.1002A>G (p.Pro334=) rs1057520362
NM_001330260.2(SCN8A):c.1008A>G (p.Gly336=) rs1320831122
NM_001330260.2(SCN8A):c.1014G>A (p.Gln338=) rs746131591
NM_001330260.2(SCN8A):c.1014G>T (p.Gln338His)
NM_001330260.2(SCN8A):c.1020G>A (p.Met340Ile)
NM_001330260.2(SCN8A):c.1026A>G (p.Ala342=) rs2138742369
NM_001330260.2(SCN8A):c.1043A>G (p.Tyr348Cys)
NM_001330260.2(SCN8A):c.1044T>C (p.Tyr348=)
NM_001330260.2(SCN8A):c.1045G>A (p.Gly349Ser) rs2138742433
NM_001330260.2(SCN8A):c.1052C>T (p.Thr351Ile)
NM_001330260.2(SCN8A):c.1064C>T (p.Thr355Ile) rs2138742443
NM_001330260.2(SCN8A):c.1080C>G (p.Phe360Leu) rs1941714033
NM_001330260.2(SCN8A):c.1087T>G (p.Leu363Val) rs2138742488
NM_001330260.2(SCN8A):c.1093C>T (p.Arg365Cys) rs867660463
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.1100T>C (p.Met367Thr) rs1941714399
NM_001330260.2(SCN8A):c.1101G>A (p.Met367Ile) rs1555219147
NM_001330260.2(SCN8A):c.1101G>C (p.Met367Ile)
NM_001330260.2(SCN8A):c.1106A>T (p.Gln369Leu) rs1941714576
NM_001330260.2(SCN8A):c.1118A>G (p.Glu373Gly) rs1555219158
NM_001330260.2(SCN8A):c.1119A>G (p.Glu373=) rs1592390546
NM_001330260.2(SCN8A):c.1125G>A (p.Leu375=) rs2138742562
NM_001330260.2(SCN8A):c.1125G>T (p.Leu375Phe)
NM_001330260.2(SCN8A):c.1134+11C>T
NM_001330260.2(SCN8A):c.1134+12C>G rs760180910
NM_001330260.2(SCN8A):c.1134+12C>T rs760180910
NM_001330260.2(SCN8A):c.1134+324TTTTG[6] rs5798183
NM_001330260.2(SCN8A):c.1135-11T>C
NM_001330260.2(SCN8A):c.1135-12T>C
NM_001330260.2(SCN8A):c.1135-8C>T rs998011038
NM_001330260.2(SCN8A):c.1141C>T (p.Arg381Ter) rs1057519210
NM_001330260.2(SCN8A):c.1150G>A (p.Gly384Arg) rs2138748007
NM_001330260.2(SCN8A):c.1162A>G (p.Met388Val) rs2138748054
NM_001330260.2(SCN8A):c.1168T>A (p.Phe390Ile) rs2138748076
NM_001330260.2(SCN8A):c.1174G>A (p.Val392Ile)
NM_001330260.2(SCN8A):c.1176C>G (p.Val392=) rs1941767463
NM_001330260.2(SCN8A):c.1179G>T (p.Leu393Phe)
NM_001330260.2(SCN8A):c.1182C>A (p.Val394=) rs758200381
NM_001330260.2(SCN8A):c.1188T>C (p.Phe396=) rs1565893656
NM_001330260.2(SCN8A):c.1193G>C (p.Gly398Ala) rs1941767862
NM_001330260.2(SCN8A):c.1197T>C (p.Ser399=) rs1592392783
NM_001330260.2(SCN8A):c.1200C>G (p.Phe400Leu) rs2138748176
NM_001330260.2(SCN8A):c.1201T>C (p.Tyr401His) rs2138748186
NM_001330260.2(SCN8A):c.1212C>T (p.Asn404=) rs1565893673
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.1221G>C (p.Leu407Phe) rs879255698
NM_001330260.2(SCN8A):c.1222G>T (p.Ala408Ser)
NM_001330260.2(SCN8A):c.1226T>C (p.Val409Ala) rs2138748239
NM_001330260.2(SCN8A):c.1228G>A (p.Val410Met)
NM_001330260.2(SCN8A):c.1228G>C (p.Val410Leu) rs879255699
NM_001330260.2(SCN8A):c.1228G>T (p.Val410Leu) rs879255699
NM_001330260.2(SCN8A):c.1229T>C (p.Val410Ala) rs2138748264
NM_001330260.2(SCN8A):c.1236_1251del (p.Met412fs) rs1941768692
NM_001330260.2(SCN8A):c.1238C>A (p.Ala413Asp)
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.1243G>A (p.Glu415Lys) rs1555219509
NM_001330260.2(SCN8A):c.1245A>G (p.Glu415=) rs2138748310
NM_001330260.2(SCN8A):c.1250A>C (p.Gln417Pro) rs878854973
NM_001330260.2(SCN8A):c.1252A>G (p.Asn418Asp) rs1941769135
NM_001330260.2(SCN8A):c.1258G>C (p.Ala420Pro) rs1592392873
NM_001330260.2(SCN8A):c.1263A>G (p.Thr421=) rs780254154
NM_001330260.2(SCN8A):c.1264C>A (p.Leu422Met) rs2138748384
NM_001330260.2(SCN8A):c.1265T>A (p.Leu422Gln)
NM_001330260.2(SCN8A):c.1319A>G (p.Lys440Arg) rs1003938127
NM_001330260.2(SCN8A):c.1337C>T (p.Ala446Val)
NM_001330260.2(SCN8A):c.1341+4G>A
NM_001330260.2(SCN8A):c.1342-15T>A
NM_001330260.2(SCN8A):c.1342-15T>C rs751585098
NM_001330260.2(SCN8A):c.1342-18C>G
NM_001330260.2(SCN8A):c.1342-3T>G rs1131691459
NM_001330260.2(SCN8A):c.1342-5C>T
NM_001330260.2(SCN8A):c.1365A>G (p.Ala455=)
NM_001330260.2(SCN8A):c.1367G>A (p.Gly456Glu) rs1592393570
NM_001330260.2(SCN8A):c.1371T>A (p.Thr457=) rs972703260
NM_001330260.2(SCN8A):c.1382A>T (p.Asp461Val)
NM_001330260.2(SCN8A):c.1387A>G (p.Ile463Val)
NM_001330260.2(SCN8A):c.1390G>A (p.Glu464Lys)
NM_001330260.2(SCN8A):c.1392G>A (p.Glu464=) rs1592393593
NM_001330260.2(SCN8A):c.1393G>A (p.Glu465Lys)
NM_001330260.2(SCN8A):c.1400G>C (p.Gly467Ala) rs1398266993
NM_001330260.2(SCN8A):c.1400G>T (p.Gly467Val) rs1398266993
NM_001330260.2(SCN8A):c.1401T>G (p.Gly467=)
NM_001330260.2(SCN8A):c.1401_1409del (p.465EEG[1])
NM_001330260.2(SCN8A):c.1402G>A (p.Glu468Lys) rs1555219703
NM_001330260.2(SCN8A):c.1403AAG[1] (p.Glu469del)
NM_001330260.2(SCN8A):c.1406A>G (p.Glu469Gly)
NM_001330260.2(SCN8A):c.1414G>A (p.Gly472Ser)
NM_001330260.2(SCN8A):c.1414G>T (p.Gly472Cys) rs1298177137
NM_001330260.2(SCN8A):c.1415G>A (p.Gly472Asp) rs758546871
NM_001330260.2(SCN8A):c.1420C>T (p.Pro474Ser) rs1160066733
NM_001330260.2(SCN8A):c.1421C>T (p.Pro474Leu)
NM_001330260.2(SCN8A):c.1425G>A (p.Arg475=) rs2138750179
NM_001330260.2(SCN8A):c.1426A>C (p.Ser476Arg) rs1060501008
NM_001330260.2(SCN8A):c.1437A>T (p.Glu479Asp)
NM_001330260.2(SCN8A):c.1447C>G (p.Leu483Val)
NM_001330260.2(SCN8A):c.1447C>T (p.Leu483Phe)
NM_001330260.2(SCN8A):c.1448T>C (p.Leu483Pro)
NM_001330260.2(SCN8A):c.1452C>T (p.Ser484=) rs1941787074
NM_001330260.2(SCN8A):c.1455A>G (p.Ser485=) rs763721137
NM_001330260.2(SCN8A):c.1460G>C (p.Ser487Thr)
NM_001330260.2(SCN8A):c.1468G>C (p.Glu490Gln) rs1555219752
NM_001330260.2(SCN8A):c.1474C>A (p.Arg492Ser)
NM_001330260.2(SCN8A):c.1479C>T (p.Asn493=) rs2138750366
NM_001330260.2(SCN8A):c.1483_1484insT (p.Arg495fs) rs2138750383
NM_001330260.2(SCN8A):c.1485A>G (p.Arg495=)
NM_001330260.2(SCN8A):c.1493G>C (p.Arg498Thr) rs1941788258
NM_001330260.2(SCN8A):c.1497G>A (p.Lys499=)
NM_001330260.2(SCN8A):c.1498C>T (p.Gln500Ter)
NM_001330260.2(SCN8A):c.1500A>G (p.Gln500=)
NM_001330260.2(SCN8A):c.1506A>G (p.Glu502=)
NM_001330260.2(SCN8A):c.1507C>T (p.Leu503Phe)
NM_001330260.2(SCN8A):c.1509C>T (p.Leu503=)
NM_001330260.2(SCN8A):c.1511_1512del (p.Leu503_Ser504insTer) rs2138750473
NM_001330260.2(SCN8A):c.1520A>C (p.Glu507Ala) rs371383623
NM_001330260.2(SCN8A):c.1537G>A (p.Glu513Lys)
NM_001330260.2(SCN8A):c.1541A>G (p.Lys514Arg) rs1592393860
NM_001330260.2(SCN8A):c.1542G>A (p.Lys514=)
NM_001330260.2(SCN8A):c.1570A>G (p.Met524Val) rs886042925
NM_001330260.2(SCN8A):c.1571T>C (p.Met524Thr) rs2138750677
NM_001330260.2(SCN8A):c.1572G>T (p.Met524Ile)
NM_001330260.2(SCN8A):c.1580A>G (p.Lys527Arg)
NM_001330260.2(SCN8A):c.1581G>T (p.Lys527Asn)
NM_001330260.2(SCN8A):c.1583C>A (p.Ala528Asp)
NM_001330260.2(SCN8A):c.1591C>T (p.Leu531=) rs773176178
NM_001330260.2(SCN8A):c.1598A>G (p.Asp533Gly)
NM_001330260.2(SCN8A):c.1599C>A (p.Asp533Glu) rs2138750756
NM_001330260.2(SCN8A):c.1601A>G (p.Asn534Ser) rs760459642
NM_001330260.2(SCN8A):c.1603A>T (p.Arg535Ter) rs1555219864
NM_001330260.2(SCN8A):c.1605A>G (p.Arg535=)
NM_001330260.2(SCN8A):c.1613G>A (p.Arg538Lys) rs1057518528
NM_001330260.2(SCN8A):c.1632T>C (p.Asn544=)
NM_001330260.2(SCN8A):c.1635+11_1635+15del
NM_001330260.2(SCN8A):c.1635+17dup rs756694666
NM_001330260.2(SCN8A):c.1635+3_1635+7del
NM_001330260.2(SCN8A):c.1635+5A>T
NM_001330260.2(SCN8A):c.1635+67G>A rs10783474
NM_001330260.2(SCN8A):c.1635+6_1635+15dup rs1197393846
NM_001330260.2(SCN8A):c.1635+7T>C rs998275281
NM_001330260.2(SCN8A):c.1636-14G>C
NM_001330260.2(SCN8A):c.1636-15T>C
NM_001330260.2(SCN8A):c.1636-16del rs754973942
NM_001330260.2(SCN8A):c.1636-17C>T
NM_001330260.2(SCN8A):c.1636-6dup rs1241750822
NM_001330260.2(SCN8A):c.1637C>T (p.Ser546Leu)
NM_001330260.2(SCN8A):c.1653A>G (p.Pro551=) rs1213382628
NM_001330260.2(SCN8A):c.1655G>C (p.Gly552Ala) rs957905474
NM_001330260.2(SCN8A):c.1657T>C (p.Ser553Pro) rs2138782066
NM_001330260.2(SCN8A):c.1661C>T (p.Pro554Leu)
NM_001330260.2(SCN8A):c.1662C>T (p.Pro554=) rs1555221470
NM_001330260.2(SCN8A):c.1666C>T (p.Leu556Phe)
NM_001330260.2(SCN8A):c.1668C>T (p.Leu556=) rs2138782135
NM_001330260.2(SCN8A):c.1670C>G (p.Ser557Cys)
NM_001330260.2(SCN8A):c.1672C>T (p.Arg558Cys)
NM_001330260.2(SCN8A):c.1676A>G (p.His559Arg)
NM_001330260.2(SCN8A):c.1680C>T (p.Asn560=) rs2138782181
NM_001330260.2(SCN8A):c.1687A>G (p.Ser563Gly) rs1565899709
NM_001330260.2(SCN8A):c.1691G>A (p.Ser564Asn) rs1592405696
NM_001330260.2(SCN8A):c.1695C>G (p.Ile565Met) rs1239406541
NM_001330260.2(SCN8A):c.1707G>A (p.Arg569=) rs267603508
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.1717C>T (p.Arg573Trp) rs370074236
NM_001330260.2(SCN8A):c.1721T>G (p.Phe574Cys)
NM_001330260.2(SCN8A):c.1722C>G (p.Phe574Leu)
NM_001330260.2(SCN8A):c.1730C>A (p.Pro577Gln) rs373820887
NM_001330260.2(SCN8A):c.1731G>A (p.Pro577=)
NM_001330260.2(SCN8A):c.1731G>C (p.Pro577=)
NM_001330260.2(SCN8A):c.1759G>T (p.Glu587Ter) rs1131691327
NM_001330260.2(SCN8A):c.1774GAG[1] (p.Glu593del) rs1942065333
NM_001330260.2(SCN8A):c.1787G>A (p.Gly596Asp) rs879267224
NM_001330260.2(SCN8A):c.1791C>G (p.Arg597=) rs1942065806
NM_001330260.2(SCN8A):c.1791C>T (p.Arg597=) rs1942065806
NM_001330260.2(SCN8A):c.1797C>T (p.Asp599=)
NM_001330260.2(SCN8A):c.1809C>T (p.Ile603=) rs1942066515
NM_001330260.2(SCN8A):c.1810C>A (p.Pro604Thr)
NM_001330260.2(SCN8A):c.1814T>A (p.Ile605Asn)
NM_001330260.2(SCN8A):c.1816C>T (p.Arg606Trp)
NM_001330260.2(SCN8A):c.1818G>A (p.Arg606=)
NM_001330260.2(SCN8A):c.1818G>T (p.Arg606=) rs777424314
NM_001330260.2(SCN8A):c.1822C>T (p.Arg608Cys)
NM_001330260.2(SCN8A):c.1823G>A (p.Arg608His) rs371644624
NM_001330260.2(SCN8A):c.1824C>A (p.Arg608=)
NM_001330260.2(SCN8A):c.1824C>T (p.Arg608=) rs756753738
NM_001330260.2(SCN8A):c.1825G>A (p.Glu609Lys)
NM_001330260.2(SCN8A):c.1829G>T (p.Arg610Leu) rs1438139623
NM_001330260.2(SCN8A):c.1832G>C (p.Arg611Pro) rs866054004
NM_001330260.2(SCN8A):c.1837_1845del (p.Ser613_Ser615del)
NM_001330260.2(SCN8A):c.1841A>G (p.Tyr614Cys)
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.1849T>C (p.Tyr617His) rs773608650
NM_001330260.2(SCN8A):c.1850A>G (p.Tyr617Cys) rs1308021407
NM_001330260.2(SCN8A):c.1860C>T (p.Tyr620=) rs180727641
NM_001330260.2(SCN8A):c.1873C>A (p.Arg625Ser) rs912580884
NM_001330260.2(SCN8A):c.1876T>A (p.Ser626Thr)
NM_001330260.2(SCN8A):c.1881G>T (p.Ser627=)
NM_001330260.2(SCN8A):c.1883G>A (p.Arg628His)
NM_001330260.2(SCN8A):c.1883G>T (p.Arg628Leu)
NM_001330260.2(SCN8A):c.1884C>T (p.Arg628=) rs1387548452
NM_001330260.2(SCN8A):c.1885A>G (p.Ile629Val)
NM_001330260.2(SCN8A):c.1886T>C (p.Ile629Thr) rs2138782988
NM_001330260.2(SCN8A):c.1890C>T (p.Phe630=)
NM_001330260.2(SCN8A):c.1893C>G (p.Pro631=)
NM_001330260.2(SCN8A):c.1893C>T (p.Pro631=)
NM_001330260.2(SCN8A):c.1896C>A (p.Ser632Arg)
NM_001330260.2(SCN8A):c.1901G>T (p.Arg634Leu)
NM_001330260.2(SCN8A):c.1903C>T (p.Arg635Cys)
NM_001330260.2(SCN8A):c.1906A>G (p.Ser636Gly)
NM_001330260.2(SCN8A):c.1908C>G (p.Ser636Arg)
NM_001330260.2(SCN8A):c.1912_1944dup (p.Val648_Val649insLysArgAsnSerThrValAspCysAsnGlyVal)
NM_001330260.2(SCN8A):c.1914G>A (p.Lys638=)
NM_001330260.2(SCN8A):c.1916G>A (p.Arg639His)
NM_001330260.2(SCN8A):c.1916G>C (p.Arg639Pro)
NM_001330260.2(SCN8A):c.1918A>G (p.Asn640Asp) rs2138783101
NM_001330260.2(SCN8A):c.1919A>C (p.Asn640Thr) rs1332024650
NM_001330260.2(SCN8A):c.1925C>T (p.Thr642Met)
NM_001330260.2(SCN8A):c.1928T>C (p.Val643Ala)
NM_001330260.2(SCN8A):c.1932C>T (p.Asp644=)
NM_001330260.2(SCN8A):c.1937A>G (p.Asn646Ser) rs1565900032
NM_001330260.2(SCN8A):c.1938C>A (p.Asn646Lys) rs186183096
NM_001330260.2(SCN8A):c.1938C>T (p.Asn646=)
NM_001330260.2(SCN8A):c.1939G>A (p.Gly647Ser)
NM_001330260.2(SCN8A):c.1940G>C (p.Gly647Ala)
NM_001330260.2(SCN8A):c.1941C>T (p.Gly647=)
NM_001330260.2(SCN8A):c.1942G>C (p.Val648Leu)
NM_001330260.2(SCN8A):c.1942G>T (p.Val648Leu)
NM_001330260.2(SCN8A):c.1952_1972dup (p.Leu651_Ser657dup) rs1942071890
NM_001330260.2(SCN8A):c.1954A>T (p.Ile652Phe)
NM_001330260.2(SCN8A):c.1954_1959dup (p.Gly653_Gly654insIleGly)
NM_001330260.2(SCN8A):c.1957G>A (p.Gly653Ser) rs1020814791
NM_001330260.2(SCN8A):c.1960G>A (p.Gly654Ser) rs905574009
NM_001330260.2(SCN8A):c.1962_1982del (p.Pro655_Gly661del) rs768554772
NM_001330260.2(SCN8A):c.1962_1982dup (p.Pro655_Gly661dup) rs768554772
NM_001330260.2(SCN8A):c.1963C>T (p.Pro655Ser) rs954650071
NM_001330260.2(SCN8A):c.1965C>T (p.Pro655=)
NM_001330260.2(SCN8A):c.1965del (p.Gly656fs) rs1352024223
NM_001330260.2(SCN8A):c.1966G>A (p.Gly656Ser)
NM_001330260.2(SCN8A):c.1969T>C (p.Ser657Pro) rs1429377869
NM_001330260.2(SCN8A):c.1969T>G (p.Ser657Ala) rs1429377869
NM_001330260.2(SCN8A):c.1970C>G (p.Ser657Cys)
NM_001330260.2(SCN8A):c.1973A>C (p.His658Pro)
NM_001330260.2(SCN8A):c.1973A>G (p.His658Arg)
NM_001330260.2(SCN8A):c.1975A>G (p.Ile659Val)
NM_001330260.2(SCN8A):c.1977C>T (p.Ile659=) rs886049583
NM_001330260.2(SCN8A):c.1979G>A (p.Gly660Asp) rs2138783318
NM_001330260.2(SCN8A):c.1984C>T (p.Arg662Cys) rs76222829
NM_001330260.2(SCN8A):c.1985G>A (p.Arg662His)
NM_001330260.2(SCN8A):c.1985G>T (p.Arg662Leu) rs776013286
NM_001330260.2(SCN8A):c.1989C>G (p.Leu663=)
NM_001330260.2(SCN8A):c.1995A>G (p.Pro665=) rs1231370273
NM_001330260.2(SCN8A):c.1998+11A>G
NM_001330260.2(SCN8A):c.1998+17C>T
NM_001330260.2(SCN8A):c.1999-12T>C
NM_001330260.2(SCN8A):c.1999-13T>G
NM_001330260.2(SCN8A):c.1999-15T>C
NM_001330260.2(SCN8A):c.1999-18C>T
NM_001330260.2(SCN8A):c.1999-4A>G rs765240974
NM_001330260.2(SCN8A):c.1999-5_1999-4del
NM_001330260.2(SCN8A):c.1999-5del rs769940455
NM_001330260.2(SCN8A):c.1999-5dup rs769940455
NM_001330260.2(SCN8A):c.1999-8T>C
NM_001330260.2(SCN8A):c.2000C>A (p.Ala667Asp) rs1942502992
NM_001330260.2(SCN8A):c.2005A>G (p.Thr669Ala)
NM_001330260.2(SCN8A):c.2010G>C (p.Glu670Asp)
NM_001330260.2(SCN8A):c.2016A>C (p.Glu672Asp)
NM_001330260.2(SCN8A):c.2023_2029dup (p.Gly677fs) rs1565908565
NM_001330260.2(SCN8A):c.2024A>G (p.Lys675Arg)
NM_001330260.2(SCN8A):c.2031C>T (p.Gly677=)
NM_001330260.2(SCN8A):c.2044T>G (p.Leu682Val)
NM_001330260.2(SCN8A):c.2048T>C (p.Val683Ala) rs2138828731
NM_001330260.2(SCN8A):c.2056G>T (p.Asp686Tyr) rs373073046
NM_001330260.2(SCN8A):c.2059C>G (p.Gln687Glu) rs2138828768
NM_001330260.2(SCN8A):c.2060A>G (p.Gln687Arg)
NM_001330260.2(SCN8A):c.2062T>A (p.Leu688Ile)
NM_001330260.2(SCN8A):c.2067C>T (p.Ala689=) rs773463881
NM_001330260.2(SCN8A):c.2069C>T (p.Ser690Phe)
NM_001330260.2(SCN8A):c.2072A>G (p.Tyr691Cys) rs2138828814
NM_001330260.2(SCN8A):c.2077C>T (p.Arg693Trp) rs2138828841
NM_001330260.2(SCN8A):c.2078G>A (p.Arg693Gln)
NM_001330260.2(SCN8A):c.2080A>G (p.Lys694Glu)
NM_001330260.2(SCN8A):c.2092A>G (p.Asn698Asp) rs2138828904
NM_001330260.2(SCN8A):c.2098A>G (p.Ile700Val) rs187153231
NM_001330260.2(SCN8A):c.2105G>C (p.Ser702Thr) rs2138828935
NM_001330260.2(SCN8A):c.2107G>A (p.Val703Ile) rs1592140302
NM_001330260.2(SCN8A):c.2110G>C (p.Val704Leu)
NM_001330260.2(SCN8A):c.2115A>G (p.Thr705=)
NM_001330260.2(SCN8A):c.2131+20A>T
NM_001330260.2(SCN8A):c.2131+3A>G rs1942506871
NM_001330260.2(SCN8A):c.2131+4T>A rs2138829043
NM_001330260.2(SCN8A):c.2131+7G>T rs756286753
NM_001330260.2(SCN8A):c.2132-11A>T rs1942591191
NM_001330260.2(SCN8A):c.2132-11dup
NM_001330260.2(SCN8A):c.2132-13T>C
NM_001330260.2(SCN8A):c.2132-5T>C
NM_001330260.2(SCN8A):c.2132-6C>A rs754118322
NM_001330260.2(SCN8A):c.2132-8_2132-5del rs587780452
NM_001330260.2(SCN8A):c.2153A>G (p.Lys718Arg) rs1355556670
NM_001330260.2(SCN8A):c.2163A>G (p.Pro721=)
NM_001330260.2(SCN8A):c.2166C>G (p.Cys722Trp) rs1555224370
NM_001330260.2(SCN8A):c.2167T>G (p.Trp723Gly)
NM_001330260.2(SCN8A):c.2169G>A (p.Trp723Ter)
NM_001330260.2(SCN8A):c.2171A>G (p.Tyr724Cys) rs1592142754
NM_001330260.2(SCN8A):c.2174A>G (p.Lys725Arg)
NM_001330260.2(SCN8A):c.2174A>T (p.Lys725Ile)
NM_001330260.2(SCN8A):c.2185A>C (p.Thr729Pro) rs1942592830
NM_001330260.2(SCN8A):c.2186C>G (p.Thr729Ser)
NM_001330260.2(SCN8A):c.2188T>C (p.Phe730Leu) rs923938885
NM_001330260.2(SCN8A):c.2190C>T (p.Phe730=) rs1592142779
NM_001330260.2(SCN8A):c.2194A>G (p.Ile732Val) rs1375877011
NM_001330260.2(SCN8A):c.2196C>G (p.Ile732Met)
NM_001330260.2(SCN8A):c.2211C>G (p.Pro737=)
NM_001330260.2(SCN8A):c.2225T>C (p.Leu742Pro)
NM_001330260.2(SCN8A):c.2234T>C (p.Ile745Thr) rs1942593819
NM_001330260.2(SCN8A):c.2242T>C (p.Leu748=) rs2138838573
NM_001330260.2(SCN8A):c.2245A>G (p.Ile749Val) rs1331549282
NM_001330260.2(SCN8A):c.2248G>A (p.Val750Ile) rs1942594128
NM_001330260.2(SCN8A):c.2251A>G (p.Met751Val) rs1565910814
NM_001330260.2(SCN8A):c.2252T>C (p.Met751Thr)
NM_001330260.2(SCN8A):c.2263G>C (p.Val755Leu) rs2138838632
NM_001330260.2(SCN8A):c.2265G>C (p.Val755=)
NM_001330260.2(SCN8A):c.2266G>A (p.Asp756Asn)
NM_001330260.2(SCN8A):c.2287A>G (p.Ile763Val) rs794727128
NM_001330260.2(SCN8A):c.2289C>T (p.Ile763=) rs1357051225
NM_001330260.2(SCN8A):c.2291T>C (p.Val764Ala)
NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile) rs797045013
NM_001330260.2(SCN8A):c.2301A>C (p.Thr767=) rs1420981704
NM_001330260.2(SCN8A):c.2301A>G (p.Thr767=)
NM_001330260.2(SCN8A):c.2302C>T (p.Leu768=)
NM_001330260.2(SCN8A):c.2314A>G (p.Met772Val)
NM_001330260.2(SCN8A):c.2320C>T (p.His774Tyr) rs1565910864
NM_001330260.2(SCN8A):c.2323C>T (p.His775Tyr)
NM_001330260.2(SCN8A):c.2325T>C (p.His775=) rs1060504138
NM_001330260.2(SCN8A):c.2337A>G (p.Pro779=) rs775023944
NM_001330260.2(SCN8A):c.2350G>A (p.Val784Ile) rs1942596077
NM_001330260.2(SCN8A):c.2352C>G (p.Val784=) rs2138838797
NM_001330260.2(SCN8A):c.2359G>A (p.Val787Ile) rs1178470597
NM_001330260.2(SCN8A):c.2363G>A (p.Gly788Glu)
NM_001330260.2(SCN8A):c.2364_2370+1del rs2138838820
NM_001330260.2(SCN8A):c.2370+13A>G
NM_001330260.2(SCN8A):c.2370+20C>A
NM_001330260.2(SCN8A):c.2370+6A>T rs2138838830
NM_001330260.2(SCN8A):c.2371-11C>A rs199751851
NM_001330260.2(SCN8A):c.2371-15C>A
NM_001330260.2(SCN8A):c.2371-17T>G rs1193837480
NM_001330260.2(SCN8A):c.2371-19C>A
NM_001330260.2(SCN8A):c.2371-32A>C rs303767
NM_001330260.2(SCN8A):c.2371-9C>A rs1942777034
NM_001330260.2(SCN8A):c.2387T>C (p.Phe796Ser) rs1555225481
NM_001330260.2(SCN8A):c.2393C>T (p.Ala798Val)
NM_001330260.2(SCN8A):c.2398A>G (p.Met800Val)
NM_001330260.2(SCN8A):c.2408A>G (p.Lys803Arg) rs2138857715
NM_001330260.2(SCN8A):c.2413A>G (p.Ile805Val) rs1942777853
NM_001330260.2(SCN8A):c.2417C>T (p.Ala806Val)
NM_001330260.2(SCN8A):c.2428T>C (p.Tyr810His)
NM_001330260.2(SCN8A):c.2432A>G (p.Tyr811Cys) rs886049584
NM_001330260.2(SCN8A):c.2441A>G (p.Gln814Arg)
NM_001330260.2(SCN8A):c.2447G>A (p.Gly816Asp) rs2138857757
NM_001330260.2(SCN8A):c.2448T>A (p.Gly816=)
NM_001330260.2(SCN8A):c.2460dup (p.Asp821Ter) rs1565915356
NM_001330260.2(SCN8A):c.2464G>A (p.Gly822Arg) rs1555225498
NM_001330260.2(SCN8A):c.2472T>A (p.Ile824=) rs1942778686
NM_001330260.2(SCN8A):c.2475C>A (p.Val825=) rs535061303
NM_001330260.2(SCN8A):c.2479C>T (p.Leu827Phe)
NM_001330260.2(SCN8A):c.2486_2489delinsCCATTA (p.Leu829fs) rs1592148206
NM_001330260.2(SCN8A):c.2489T>C (p.Met830Thr)
NM_001330260.2(SCN8A):c.2491G>A (p.Glu831Lys) rs1555225505
NM_001330260.2(SCN8A):c.2493A>T (p.Glu831Asp) rs1565915374
NM_001330260.2(SCN8A):c.2494C>T (p.Leu832=) rs1592148218
NM_001330260.2(SCN8A):c.2495T>G (p.Leu832Arg)
NM_001330260.2(SCN8A):c.2500C>T (p.Leu834=) rs2138857836
NM_001330260.2(SCN8A):c.2507A>T (p.Asp836Val)
NM_001330260.2(SCN8A):c.2509G>A (p.Val837Met) rs2138857855
NM_001330260.2(SCN8A):c.2511G>A (p.Val837=)
NM_001330260.2(SCN8A):c.2517G>T (p.Gly839=)
NM_001330260.2(SCN8A):c.2518C>T (p.Leu840Phe) rs1942779292
NM_001330260.2(SCN8A):c.2519T>G (p.Leu840Arg) rs878854974
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.2531G>A (p.Arg844Gln) rs1476532344
NM_001330260.2(SCN8A):c.2531G>C (p.Arg844Pro)
NM_001330260.2(SCN8A):c.2533T>C (p.Ser845Pro) rs1057518356
NM_001330260.2(SCN8A):c.2534C>G (p.Ser845Cys)
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.2542T>C (p.Leu848=) rs760438554
NM_001330260.2(SCN8A):c.2543T>G (p.Leu848Trp) rs886043686
NM_001330260.2(SCN8A):c.2544+10A>G
NM_001330260.2(SCN8A):c.2544+15T>C rs2138857968
NM_001330260.2(SCN8A):c.2544+30_2544+31insTTTGGTATTCCATATTTCTCCAATTTCTTTTAAC rs756887880
NM_001330260.2(SCN8A):c.2544+85del rs11327450
NM_001330260.2(SCN8A):c.2545-12_2545-11insA
NM_001330260.2(SCN8A):c.2545-17G>T rs1314952791
NM_001330260.2(SCN8A):c.2545-19_2545-18insC
NM_001330260.2(SCN8A):c.2545-5C>G rs1592149694
NM_001330260.2(SCN8A):c.2545-5dup rs1942827109
NM_001330260.2(SCN8A):c.2545-7dup rs56879517
NM_001330260.2(SCN8A):c.2545-8_2545-7dup rs56879517
NM_001330260.2(SCN8A):c.2546T>A (p.Leu849His) rs1592149711
NM_001330260.2(SCN8A):c.2547C>T (p.Leu849=) rs2138862532
NM_001330260.2(SCN8A):c.2548C>G (p.Arg850Gly) rs1555225782
NM_001330260.2(SCN8A):c.2548C>T (p.Arg850Ter) rs1555225782
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.2551G>C (p.Val851Leu)
NM_001330260.2(SCN8A):c.2558A>G (p.Lys853Arg) rs1942827683
NM_001330260.2(SCN8A):c.2560T>A (p.Leu854Met) rs1942827739
NM_001330260.2(SCN8A):c.2563G>A (p.Ala855Thr) rs1555225784
NM_001330260.2(SCN8A):c.2564C>G (p.Ala855Gly) rs2138862590
NM_001330260.2(SCN8A):c.2572T>G (p.Trp858Gly)
NM_001330260.2(SCN8A):c.2585A>G (p.Asn862Ser) rs2138862625
NM_001330260.2(SCN8A):c.2592A>C (p.Leu864=) rs1555225792
NM_001330260.2(SCN8A):c.2603T>C (p.Ile868Thr) rs1555225794
NM_001330260.2(SCN8A):c.2608A>C (p.Asn870His) rs1942828379
NM_001330260.2(SCN8A):c.2609A>G (p.Asn870Ser) rs2138862664
NM_001330260.2(SCN8A):c.2617G>A (p.Gly873Ser) rs1942828530
NM_001330260.2(SCN8A):c.2617G>C (p.Gly873Arg)
NM_001330260.2(SCN8A):c.2617G>T (p.Gly873Cys) rs1942828530
NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr) rs1057524820
NM_001330260.2(SCN8A):c.2620G>T (p.Ala874Ser) rs1057524820
NM_001330260.2(SCN8A):c.2621C>T (p.Ala874Val)
NM_001330260.2(SCN8A):c.2624T>A (p.Leu875Gln) rs879255701
NM_001330260.2(SCN8A):c.2627G>A (p.Gly876Asp)
NM_001330260.2(SCN8A):c.2627G>T (p.Gly876Val) rs1060501010
NM_001330260.2(SCN8A):c.2633T>C (p.Leu878Pro) rs1942828881
NM_001330260.2(SCN8A):c.2635A>G (p.Thr879Ala) rs2138862740
NM_001330260.2(SCN8A):c.2641G>C (p.Val881Leu) rs1592149771
NM_001330260.2(SCN8A):c.2642_2643insACCA (p.Leu882fs)
NM_001330260.2(SCN8A):c.2654T>C (p.Ile885Thr) rs1942829127
NM_001330260.2(SCN8A):c.2668G>A (p.Ala890Thr) rs879255702
NM_001330260.2(SCN8A):c.2668G>C (p.Ala890Pro) rs879255702
NM_001330260.2(SCN8A):c.2670C>G (p.Ala890=) rs374452942
NM_001330260.2(SCN8A):c.2671G>A (p.Val891Met) rs1592149793
NM_001330260.2(SCN8A):c.2672T>C (p.Val891Ala) rs2138862805
NM_001330260.2(SCN8A):c.2674G>A (p.Val892Met) rs1942829484
NM_001330260.2(SCN8A):c.2674G>T (p.Val892Leu)
NM_001330260.2(SCN8A):c.2675T>C (p.Val892Ala)
NM_001330260.2(SCN8A):c.2675T>G (p.Val892Gly) rs863225295
NM_001330260.2(SCN8A):c.2683C>G (p.Gln895Glu)
NM_001330260.2(SCN8A):c.2685A>C (p.Gln895His)
NM_001330260.2(SCN8A):c.2685A>G (p.Gln895=) rs528126331
NM_001330260.2(SCN8A):c.2693del (p.Gly898fs) rs2138862836
NM_001330260.2(SCN8A):c.2702A>G (p.Tyr901Cys) rs1942829767
NM_001330260.2(SCN8A):c.2706del (p.Glu903fs) rs2138862858
NM_001330260.2(SCN8A):c.2708A>C (p.Glu903Ala) rs2138862872
NM_001330260.2(SCN8A):c.2709G>A (p.Glu903=)
NM_001330260.2(SCN8A):c.2711G>A (p.Cys904Tyr)
NM_001330260.2(SCN8A):c.2712T>C (p.Cys904=) rs1555225819
NM_001330260.2(SCN8A):c.2715C>G (p.Val905=)
NM_001330260.2(SCN8A):c.2720A>G (p.Lys907Arg)
NM_001330260.2(SCN8A):c.2726A>G (p.Asn909Ser)
NM_001330260.2(SCN8A):c.2734T>G (p.Cys912Gly)
NM_001330260.2(SCN8A):c.2746C>T (p.Arg916Cys)
NM_001330260.2(SCN8A):c.2753A>G (p.His918Arg)
NM_001330260.2(SCN8A):c.277-10_277-7del
NM_001330260.2(SCN8A):c.277-18C>G
NM_001330260.2(SCN8A):c.277-23TC[2] rs765408317
NM_001330260.2(SCN8A):c.277-8C>T rs749517144
NM_001330260.2(SCN8A):c.2791C>T (p.Arg931Ter)
NM_001330260.2(SCN8A):c.2792G>A (p.Arg931Gln) rs2138862977
NM_001330260.2(SCN8A):c.2799G>T (p.Leu933Phe) rs774522197
NM_001330260.2(SCN8A):c.279C>T (p.Thr93=) rs2138707894
NM_001330260.2(SCN8A):c.2806G>A (p.Glu936Lys) rs1555225833
NM_001330260.2(SCN8A):c.2811G>T (p.Trp937Cys) rs1555225835
NM_001330260.2(SCN8A):c.2812A>T (p.Ile938Phe)
NM_001330260.2(SCN8A):c.2821A>G (p.Met941Val)
NM_001330260.2(SCN8A):c.2824_2825insA (p.Trp942Ter) rs2138863024
NM_001330260.2(SCN8A):c.2827dup (p.Asp943fs) rs1592149876
NM_001330260.2(SCN8A):c.2835G>C (p.Met945Ile) rs1942831510
NM_001330260.2(SCN8A):c.2856G>A (p.Met952Ile) rs2138863058
NM_001330260.2(SCN8A):c.285A>G (p.Val95=)
NM_001330260.2(SCN8A):c.2863A>T (p.Ile955Phe)
NM_001330260.2(SCN8A):c.2877G>A (p.Met959Ile) rs2138863091
NM_001330260.2(SCN8A):c.2879T>A (p.Val960Asp) rs879255703
NM_001330260.2(SCN8A):c.2880C>T (p.Val960=)
NM_001330260.2(SCN8A):c.2881A>G (p.Met961Val) rs1942832105
NM_001330260.2(SCN8A):c.2890G>C (p.Gly964Arg) rs1057521662
NM_001330260.2(SCN8A):c.2894A>G (p.Asn965Ser)
NM_001330260.2(SCN8A):c.2897T>G (p.Leu966Trp) rs1555225844
NM_001330260.2(SCN8A):c.289T>C (p.Leu97=) rs1565885975
NM_001330260.2(SCN8A):c.2900T>G (p.Val967Gly) rs1592149906
NM_001330260.2(SCN8A):c.2901+15G>A rs754580733
NM_001330260.2(SCN8A):c.2901+16T>G
NM_001330260.2(SCN8A):c.2901+1G>C rs1942832440
NM_001330260.2(SCN8A):c.2901+2T>C rs2138863154
NM_001330260.2(SCN8A):c.2901+35C>A
NM_001330260.2(SCN8A):c.2901+5G>T rs2138863160
NM_001330260.2(SCN8A):c.2902-10A>G
NM_001330260.2(SCN8A):c.2902-11dup
NM_001330260.2(SCN8A):c.2902-16_2902-15del
NM_001330260.2(SCN8A):c.2902-6G>T
NM_001330260.2(SCN8A):c.2904G>A (p.Val968=)
NM_001330260.2(SCN8A):c.2911C>T (p.Leu971=) rs1942877721
NM_001330260.2(SCN8A):c.2916del (p.Leu973fs) rs2138868015
NM_001330260.2(SCN8A):c.291A>G (p.Leu97=)
NM_001330260.2(SCN8A):c.291A>T (p.Leu97Phe) rs2138707920
NM_001330260.2(SCN8A):c.2921C>G (p.Ala974Gly) rs1942877839
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.2932A>G (p.Ser978Gly) rs1057519540
NM_001330260.2(SCN8A):c.2934C>A (p.Ser978Arg)
NM_001330260.2(SCN8A):c.2935_2936delinsAA (p.Ser979Asn)
NM_001330260.2(SCN8A):c.2936C>T (p.Ser979Phe) rs1555226081
NM_001330260.2(SCN8A):c.2942G>T (p.Ser981Ile)
NM_001330260.2(SCN8A):c.2945C>T (p.Ala982Val) rs1565917697
NM_001330260.2(SCN8A):c.2950_2970del (p.Asn984_Asp990del)
NM_001330260.2(SCN8A):c.2952C>G (p.Asn984Lys) rs876657399
NM_001330260.2(SCN8A):c.2953C>T (p.Leu985=)
NM_001330260.2(SCN8A):c.2960C>T (p.Ala987Val)
NM_001330260.2(SCN8A):c.2965G>T (p.Asp989Tyr) rs1942878547
NM_001330260.2(SCN8A):c.2966A>T (p.Asp989Val) rs1942878597
NM_001330260.2(SCN8A):c.2967T>A (p.Asp989Glu)
NM_001330260.2(SCN8A):c.2971G>A (p.Asp991Asn) rs80261247
NM_001330260.2(SCN8A):c.297A>C (p.Arg99Ser) rs1565885985
NM_001330260.2(SCN8A):c.2982G>C (p.Met994Ile)
NM_001330260.2(SCN8A):c.2983A>G (p.Asn995Asp) rs1565917769
NM_001330260.2(SCN8A):c.2985C>A (p.Asn995Lys) rs1942879102
NM_001330260.2(SCN8A):c.2986A>G (p.Asn996Asp)
NM_001330260.2(SCN8A):c.2988C>G (p.Asn996Lys)
NM_001330260.2(SCN8A):c.2991C>T (p.Leu997=) rs1195083435
NM_001330260.2(SCN8A):c.3007C>T (p.Arg1003Cys) rs1565917779
NM_001330260.2(SCN8A):c.3018G>C (p.Lys1006Asn) rs1057317154
NM_001330260.2(SCN8A):c.3023T>G (p.Val1008Gly)
NM_001330260.2(SCN8A):c.3024G>A (p.Val1008=) rs1057521309
NM_001330260.2(SCN8A):c.3035A>C (p.Lys1012Thr)
NM_001330260.2(SCN8A):c.3049G>A (p.Ala1017Thr)
NM_001330260.2(SCN8A):c.3049G>T (p.Ala1017Ser) rs751112057
NM_001330260.2(SCN8A):c.3054C>T (p.Phe1018=)
NM_001330260.2(SCN8A):c.3060G>A (p.Gln1020=) rs528718802
NM_001330260.2(SCN8A):c.3061G>T (p.Ala1021Ser) rs781237471
NM_001330260.2(SCN8A):c.3068T>G (p.Phe1023Cys)
NM_001330260.2(SCN8A):c.3077G>A (p.Arg1026His) rs780010793
NM_001330260.2(SCN8A):c.3077G>T (p.Arg1026Leu)
NM_001330260.2(SCN8A):c.307C>A (p.Leu103Ile) rs1941382009
NM_001330260.2(SCN8A):c.3083C>G (p.Ala1028Gly) rs1942881418
NM_001330260.2(SCN8A):c.3086A>T (p.Asp1029Val)
NM_001330260.2(SCN8A):c.3091G>T (p.Val1031Leu)
NM_001330260.2(SCN8A):c.3092T>C (p.Val1031Ala) rs1057524300
NM_001330260.2(SCN8A):c.3096G>T (p.Lys1032Asn)
NM_001330260.2(SCN8A):c.3103G>A (p.Asp1035Asn)
NM_001330260.2(SCN8A):c.3109T>C (p.Leu1037=)
NM_001330260.2(SCN8A):c.3111G>T (p.Leu1037Phe)
NM_001330260.2(SCN8A):c.3113A>G (p.Tyr1038Cys)
NM_001330260.2(SCN8A):c.3116A>G (p.Glu1039Gly) rs2138868512
NM_001330260.2(SCN8A):c.3124G>A (p.Ala1042Thr)
NM_001330260.2(SCN8A):c.3127A>G (p.Asn1043Asp)
NM_001330260.2(SCN8A):c.3128A>G (p.Asn1043Ser) rs2138868545
NM_001330260.2(SCN8A):c.3130T>C (p.Cys1044Arg) rs1942882733
NM_001330260.2(SCN8A):c.3133A>G (p.Ile1045Val)
NM_001330260.2(SCN8A):c.3137C>A (p.Ala1046Asp) rs1344073985
NM_001330260.2(SCN8A):c.3144C>T (p.His1048=) rs2138868606
NM_001330260.2(SCN8A):c.3149G>C (p.Gly1050Ala) rs2138868637
NM_001330260.2(SCN8A):c.3151G>C (p.Ala1051Pro)
NM_001330260.2(SCN8A):c.3154G>A (p.Asp1052Asn) rs1942883632
NM_001330260.2(SCN8A):c.3180G>A (p.Gln1060=)
NM_001330260.2(SCN8A):c.3185A>G (p.Asn1062Ser) rs1592151546
NM_001330260.2(SCN8A):c.3203G>A (p.Ser1068Asn) rs1592151555
NM_001330260.2(SCN8A):c.3205G>A (p.Gly1069Ser) rs1064796374
NM_001330260.2(SCN8A):c.3206G>A (p.Gly1069Asp) rs2138868784
NM_001330260.2(SCN8A):c.3206G>T (p.Gly1069Val)
NM_001330260.2(SCN8A):c.3220G>A (p.Val1074Met)
NM_001330260.2(SCN8A):c.3229T>C (p.Tyr1077His)
NM_001330260.2(SCN8A):c.322G>A (p.Ala108Thr)
NM_001330260.2(SCN8A):c.3239A>G (p.Asp1080Gly)
NM_001330260.2(SCN8A):c.3240T>A (p.Asp1080Glu)
NM_001330260.2(SCN8A):c.3244G>T (p.Asp1082Tyr)
NM_001330260.2(SCN8A):c.3245A>T (p.Asp1082Val) rs2138868846
NM_001330260.2(SCN8A):c.3246C>A (p.Asp1082Glu)
NM_001330260.2(SCN8A):c.3250A>G (p.Met1084Val) rs2138868851
NM_001330260.2(SCN8A):c.3259A>G (p.Ile1087Val) rs763424705
NM_001330260.2(SCN8A):c.3259A>T (p.Ile1087Phe)
NM_001330260.2(SCN8A):c.3261C>G (p.Ile1087Met) rs2138868887
NM_001330260.2(SCN8A):c.3267C>T (p.Asn1089=) rs761386688
NM_001330260.2(SCN8A):c.3268C>T (p.Pro1090Ser) rs1565918102
NM_001330260.2(SCN8A):c.326C>T (p.Thr109Met) rs375480171
NM_001330260.2(SCN8A):c.3272A>C (p.Asn1091Thr) rs558738676
NM_001330260.2(SCN8A):c.3274T>A (p.Leu1092Met) rs1942886229
NM_001330260.2(SCN8A):c.3275T>G (p.Leu1092Trp)
NM_001330260.2(SCN8A):c.3280G>A (p.Val1094Ile)
NM_001330260.2(SCN8A):c.3283C>T (p.Arg1095Trp)
NM_001330260.2(SCN8A):c.3284G>A (p.Arg1095Gln) rs2138868984
NM_001330260.2(SCN8A):c.3288A>G (p.Val1096=)
NM_001330260.2(SCN8A):c.3293T>A (p.Ile1098Asn) rs1238494045
NM_001330260.2(SCN8A):c.3295G>A (p.Ala1099Thr) rs1592151654
NM_001330260.2(SCN8A):c.3298G>A (p.Val1100Met)
NM_001330260.2(SCN8A):c.3300G>A (p.Val1100=)
NM_001330260.2(SCN8A):c.3303C>T (p.Gly1101=) rs1942886702
NM_001330260.2(SCN8A):c.3306G>A (p.Glu1102=)
NM_001330260.2(SCN8A):c.3307T>A (p.Ser1103Thr)
NM_001330260.2(SCN8A):c.3317A>C (p.Glu1106Ala) rs2138869049
NM_001330260.2(SCN8A):c.3319A>C (p.Asn1107His) rs1942886955
NM_001330260.2(SCN8A):c.331G>A (p.Ala111Thr) rs796053231
NM_001330260.2(SCN8A):c.3327C>G (p.Asn1109Lys)
NM_001330260.2(SCN8A):c.3330A>G (p.Thr1110=)
NM_001330260.2(SCN8A):c.3331G>C (p.Glu1111Gln)
NM_001330260.2(SCN8A):c.3336T>A (p.Asp1112Glu) rs1942887434
NM_001330260.2(SCN8A):c.3339T>C (p.Val1113=) rs2138869110
NM_001330260.2(SCN8A):c.3346G>A (p.Glu1116Lys) rs1555226176
NM_001330260.2(SCN8A):c.3364A>G (p.Ser1122Gly) rs554826191
NM_001330260.2(SCN8A):c.3367A>C (p.Lys1123Gln) rs1555226186
NM_001330260.2(SCN8A):c.3370G>A (p.Asp1124Asn) rs1942888203
NM_001330260.2(SCN8A):c.3372+13C>G
NM_001330260.2(SCN8A):c.3372+13C>T
NM_001330260.2(SCN8A):c.3372+16A>G
NM_001330260.2(SCN8A):c.3372+6G>T rs1942888320
NM_001330260.2(SCN8A):c.3373-14C>T
NM_001330260.2(SCN8A):c.3373-4C>T
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.3384C>A (p.Asp1128Glu) rs1444975127
NM_001330260.2(SCN8A):c.3387C>A (p.Thr1129=) rs1592152030
NM_001330260.2(SCN8A):c.3395C>T (p.Ser1132Phe)
NM_001330260.2(SCN8A):c.3404G>A (p.Ser1135Asn)
NM_001330260.2(SCN8A):c.3408C>T (p.Thr1136=) rs1555226263
NM_001330260.2(SCN8A):c.3409A>G (p.Ile1137Val)
NM_001330260.2(SCN8A):c.340A>C (p.Ile114Leu)
NM_001330260.2(SCN8A):c.3416T>C (p.Ile1139Thr)
NM_001330260.2(SCN8A):c.3421C>A (p.Pro1141Thr)
NM_001330260.2(SCN8A):c.3422C>T (p.Pro1141Leu)
NM_001330260.2(SCN8A):c.3432A>G (p.Glu1144=) rs769356208
NM_001330260.2(SCN8A):c.3433G>A (p.Glu1145Lys) rs1324401898
NM_001330260.2(SCN8A):c.3436G>A (p.Val1146Ile)
NM_001330260.2(SCN8A):c.3436G>T (p.Val1146Phe)
NM_001330260.2(SCN8A):c.3440C>T (p.Pro1147Leu)
NM_001330260.2(SCN8A):c.3440del (p.Pro1147fs) rs2138870280
NM_001330260.2(SCN8A):c.3441T>C (p.Pro1147=) rs2138870285
NM_001330260.2(SCN8A):c.3444G>T (p.Val1148=)
NM_001330260.2(SCN8A):c.3448C>T (p.Gln1150Ter) rs1555226280
NM_001330260.2(SCN8A):c.3457G>A (p.Glu1153Lys) rs2138870339
NM_001330260.2(SCN8A):c.3459A>G (p.Glu1153=) rs1057522632
NM_001330260.2(SCN8A):c.345A>C (p.Leu115Phe)
NM_001330260.2(SCN8A):c.3466G>A (p.Asp1156Asn) rs777129956
NM_001330260.2(SCN8A):c.3467A>C (p.Asp1156Ala) rs2138870366
NM_001330260.2(SCN8A):c.3471A>G (p.Pro1157=) rs368596553
NM_001330260.2(SCN8A):c.3475G>A (p.Ala1159Thr) rs2138870403
NM_001330260.2(SCN8A):c.3477C>T (p.Ala1159=) rs2138870413
NM_001330260.2(SCN8A):c.3479G>A (p.Cys1160Tyr) rs1942899278
NM_001330260.2(SCN8A):c.3487G>A (p.Glu1163Lys) rs1555226298
NM_001330260.2(SCN8A):c.3490+17A>G
NM_001330260.2(SCN8A):c.3490+19C>T
NM_001330260.2(SCN8A):c.3490+258G>A rs303807
NM_001330260.2(SCN8A):c.3490+3G>A rs1592152117
NM_001330260.2(SCN8A):c.3490+4_3490+8del
NM_001330260.2(SCN8A):c.3490+6dup rs1942899581
NM_001330260.2(SCN8A):c.3491-11G>A rs745414775
NM_001330260.2(SCN8A):c.3491-11G>T
NM_001330260.2(SCN8A):c.3491-20G>A
NM_001330260.2(SCN8A):c.3502C>T (p.Arg1168Trp)
NM_001330260.2(SCN8A):c.3509A>G (p.Lys1170Arg) rs774163610
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.3524A>G (p.Asn1175Ser) rs1592152427
NM_001330260.2(SCN8A):c.3538C>T (p.Leu1180=) rs2138871616
NM_001330260.2(SCN8A):c.3562C>T (p.Arg1188Trp) rs1430513260
NM_001330260.2(SCN8A):c.3563G>A (p.Arg1188Gln) rs1555226375
NM_001330260.2(SCN8A):c.3569C>T (p.Thr1190Ile)
NM_001330260.2(SCN8A):c.3577C>T (p.Leu1193Phe) rs2138871696
NM_001330260.2(SCN8A):c.3579C>T (p.Leu1193=)
NM_001330260.2(SCN8A):c.3583G>A (p.Val1195Met) rs1942911383
NM_001330260.2(SCN8A):c.3593A>G (p.Asn1198Ser) rs780745536
NM_001330260.2(SCN8A):c.3594C>T (p.Asn1198=)
NM_001330260.2(SCN8A):c.3606C>G (p.Thr1202=)
NM_001330260.2(SCN8A):c.3610A>G (p.Ile1204Val) rs2138871785
NM_001330260.2(SCN8A):c.361A>T (p.Ile121Leu)
NM_001330260.2(SCN8A):c.3621G>C (p.Met1207Ile)
NM_001330260.2(SCN8A):c.362T>A (p.Ile121Lys) rs1941383326
NM_001330260.2(SCN8A):c.3645+10A>G rs1942912454
NM_001330260.2(SCN8A):c.3645+10del rs1942912490
NM_001330260.2(SCN8A):c.3645+18G>A rs375807594
NM_001330260.2(SCN8A):c.3645+8C>G rs768603435
NM_001330260.2(SCN8A):c.3645+8C>T
NM_001330260.2(SCN8A):c.3646-10T>A rs1942972709
NM_001330260.2(SCN8A):c.3646-11C>T
NM_001330260.2(SCN8A):c.3647C>T (p.Ala1216Val)
NM_001330260.2(SCN8A):c.3651C>T (p.Phe1217=)
NM_001330260.2(SCN8A):c.3652G>A (p.Glu1218Lys) rs1555226823
NM_001330260.2(SCN8A):c.3654G>A (p.Glu1218=)
NM_001330260.2(SCN8A):c.365G>A (p.Arg122Lys)
NM_001330260.2(SCN8A):c.3664_3719dup (p.Tyr1241fs) rs2138878910
NM_001330260.2(SCN8A):c.3669G>A (p.Glu1223=) rs1318771897
NM_001330260.2(SCN8A):c.3681C>G (p.Thr1227=) rs771709180
NM_001330260.2(SCN8A):c.3682A>G (p.Ile1228Val)
NM_001330260.2(SCN8A):c.3685C>T (p.Arg1229Cys)
NM_001330260.2(SCN8A):c.3686G>T (p.Arg1229Leu) rs1020998191
NM_001330260.2(SCN8A):c.3687C>T (p.Arg1229=)
NM_001330260.2(SCN8A):c.368G>A (p.Arg123Lys)
NM_001330260.2(SCN8A):c.3702T>C (p.Tyr1234=) rs1555226833
NM_001330260.2(SCN8A):c.3703G>A (p.Ala1235Thr) rs1942973895
NM_001330260.2(SCN8A):c.3705T>C (p.Ala1235=) rs954831801
NM_001330260.2(SCN8A):c.3705T>G (p.Ala1235=)
NM_001330260.2(SCN8A):c.3706G>A (p.Asp1236Asn)
NM_001330260.2(SCN8A):c.3712G>A (p.Val1238Ile) rs1942974112
NM_001330260.2(SCN8A):c.3724A>G (p.Ile1242Val)
NM_001330260.2(SCN8A):c.3729C>T (p.Phe1243=) rs2138879070
NM_001330260.2(SCN8A):c.3739A>T (p.Met1247Leu)
NM_001330260.2(SCN8A):c.3783C>G (p.Thr1261=) rs1060504140
NM_001330260.2(SCN8A):c.3793T>C (p.Cys1265Arg) rs1942975434
NM_001330260.2(SCN8A):c.3799C>T (p.Leu1267=)
NM_001330260.2(SCN8A):c.3801G>A (p.Leu1267=) rs1592154970
NM_001330260.2(SCN8A):c.3804C>T (p.Asp1268=) rs2138879208
NM_001330260.2(SCN8A):c.3806T>C (p.Phe1269Ser)
NM_001330260.2(SCN8A):c.3811A>G (p.Ile1271Val) rs2138879236
NM_001330260.2(SCN8A):c.3813T>G (p.Ile1271Met)
NM_001330260.2(SCN8A):c.3819+7G>A
NM_001330260.2(SCN8A):c.3819T>C (p.Ala1273=)
NM_001330260.2(SCN8A):c.3820-12G>C
NM_001330260.2(SCN8A):c.3820-14_3820-13del
NM_001330260.2(SCN8A):c.3820-1G>T rs1373881732
NM_001330260.2(SCN8A):c.3820-242_3820-240del rs551179604
NM_001330260.2(SCN8A):c.3820-7TG[3] rs2138892590
NM_001330260.2(SCN8A):c.3830T>A (p.Val1277Asp) rs1057524050
NM_001330260.2(SCN8A):c.3831C>T (p.Val1277=)
NM_001330260.2(SCN8A):c.3832A>T (p.Ser1278Cys)
NM_001330260.2(SCN8A):c.3834C>T (p.Ser1278=) rs1937892046
NM_001330260.2(SCN8A):c.3838A>G (p.Ile1280Val)
NM_001330260.2(SCN8A):c.3849C>T (p.Ala1283=) rs2138892718
NM_001330260.2(SCN8A):c.3860C>T (p.Ser1287Leu)
NM_001330260.2(SCN8A):c.3888G>A (p.Arg1296=) rs1565923605
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.3917C>G (p.Ala1306Gly)
NM_001330260.2(SCN8A):c.3918C>T (p.Ala1306=)
NM_001330260.2(SCN8A):c.3921A>T (p.Leu1307Phe) rs1565923638
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.3932A>T (p.Glu1311Val)
NM_001330260.2(SCN8A):c.3933A>G (p.Glu1311=)
NM_001330260.2(SCN8A):c.3934G>C (p.Gly1312Arg) rs2138892889
NM_001330260.2(SCN8A):c.3939G>A (p.Met1313Ile) rs1085307546
NM_001330260.2(SCN8A):c.3939G>T (p.Met1313Ile)
NM_001330260.2(SCN8A):c.3942+11_3942+12delinsTG rs2138892933
NM_001330260.2(SCN8A):c.3942+1387_4135del
NM_001330260.2(SCN8A):c.3942+14del
NM_001330260.2(SCN8A):c.3942+1G>T rs2138892902
NM_001330260.2(SCN8A):c.3942+248C>G
NM_001330260.2(SCN8A):c.3942+2_3942+5dup rs764867016
NM_001330260.2(SCN8A):c.3942+3A>T
NM_001330260.2(SCN8A):c.3942+8A>G rs1555227596
NM_001330260.2(SCN8A):c.3942+9del rs750135266
NM_001330260.2(SCN8A):c.3943-17C>G rs1057523298
NM_001330260.2(SCN8A):c.3943G>A (p.Val1315Met) rs1555228303
NM_001330260.2(SCN8A):c.3943G>T (p.Val1315Leu) rs1555228303
NM_001330260.2(SCN8A):c.3944T>C (p.Val1315Ala) rs1592162415
NM_001330260.2(SCN8A):c.3945G>A (p.Val1315=) rs1555228304
NM_001330260.2(SCN8A):c.3946G>T (p.Val1316Leu) rs2138903944
NM_001330260.2(SCN8A):c.3948G>A (p.Val1316=)
NM_001330260.2(SCN8A):c.394T>C (p.Ser132Pro)
NM_001330260.2(SCN8A):c.395+11C>T
NM_001330260.2(SCN8A):c.395+16A>G
NM_001330260.2(SCN8A):c.395+17A>T
NM_001330260.2(SCN8A):c.395+19_395+37del
NM_001330260.2(SCN8A):c.395+243del rs59513447
NM_001330260.2(SCN8A):c.395+327G>A rs186365625
NM_001330260.2(SCN8A):c.395+4T>C
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.396-19C>T
NM_001330260.2(SCN8A):c.396-1C>T
NM_001330260.2(SCN8A):c.396-20G>A
NM_001330260.2(SCN8A):c.396-6C>T rs1592379052
NM_001330260.2(SCN8A):c.396-9C>A
NM_001330260.2(SCN8A):c.3964G>C (p.Gly1322Arg) rs2138904004
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr) rs794727361
NM_001330260.2(SCN8A):c.3967G>T (p.Ala1323Ser) rs794727361
NM_001330260.2(SCN8A):c.3969C>T (p.Ala1323=)
NM_001330260.2(SCN8A):c.396A>G (p.Ser132=)
NM_001330260.2(SCN8A):c.3979A>G (p.Ile1327Val) rs879255704
NM_001330260.2(SCN8A):c.397G>A (p.Val133Ile)
NM_001330260.2(SCN8A):c.3982A>G (p.Met1328Val) rs1938092498
NM_001330260.2(SCN8A):c.3985A>G (p.Asn1329Asp) rs794727362
NM_001330260.2(SCN8A):c.3988G>A (p.Val1330Met)
NM_001330260.2(SCN8A):c.3991C>G (p.Leu1331Val) rs397514738
NM_001330260.2(SCN8A):c.3995T>C (p.Leu1332Pro) rs2138904112
NM_001330260.2(SCN8A):c.3996G>C (p.Leu1332=) rs2138904116
NM_001330260.2(SCN8A):c.4000T>C (p.Cys1334Arg) rs2138904131
NM_001330260.2(SCN8A):c.4007T>C (p.Ile1336Thr) rs1938093232
NM_001330260.2(SCN8A):c.4017dup (p.Ile1340fs)
NM_001330260.2(SCN8A):c.4033G>T (p.Gly1345Ter) rs1555228329
NM_001330260.2(SCN8A):c.4044G>C (p.Leu1348Phe)
NM_001330260.2(SCN8A):c.4049C>T (p.Ala1350Val) rs1592162506
NM_001330260.2(SCN8A):c.4050G>C (p.Ala1350=) rs1197438038
NM_001330260.2(SCN8A):c.4053A>G (p.Gly1351=) rs2138904231
NM_001330260.2(SCN8A):c.4064A>G (p.Tyr1355Cys) rs1592162522
NM_001330260.2(SCN8A):c.4064del (p.Tyr1355fs) rs2138904272
NM_001330260.2(SCN8A):c.4068C>T (p.Cys1356=)
NM_001330260.2(SCN8A):c.4078A>T (p.Thr1360Ser) rs796053215
NM_001330260.2(SCN8A):c.4079C>A (p.Thr1360Asn) rs2138904306
NM_001330260.2(SCN8A):c.4082C>G (p.Ser1361Cys)
NM_001330260.2(SCN8A):c.4088T>C (p.Ile1363Thr) rs1229965891
NM_001330260.2(SCN8A):c.4090C>T (p.Arg1364Ter)
NM_001330260.2(SCN8A):c.410T>C (p.Ile137Thr) rs1941420576
NM_001330260.2(SCN8A):c.4115A>G (p.Asn1372Ser) rs2138904379
NM_001330260.2(SCN8A):c.4122_4123del (p.Glu1375fs) rs2138904397
NM_001330260.2(SCN8A):c.4125_4126del (p.Glu1375_Cys1376insTer)
NM_001330260.2(SCN8A):c.4146_4147dup (p.Asn1383fs) rs1555228380
NM_001330260.2(SCN8A):c.4159A>G (p.Ile1387Val)
NM_001330260.2(SCN8A):c.4161C>T (p.Ile1387=)
NM_001330260.2(SCN8A):c.4173C>T (p.Asn1391=)
NM_001330260.2(SCN8A):c.4174G>A (p.Val1392Met) rs770135840
NM_001330260.2(SCN8A):c.417G>A (p.Met139Ile) rs1565886685
NM_001330260.2(SCN8A):c.4182C>A (p.Ile1394=) rs1938099830
NM_001330260.2(SCN8A):c.4189_4208del (p.Asp1397fs) rs1565925940
NM_001330260.2(SCN8A):c.4196T>C (p.Val1399Ala) rs2138904540
NM_001330260.2(SCN8A):c.4215C>G (p.Ala1405=)
NM_001330260.2(SCN8A):c.4219C>T (p.Leu1407Phe) rs2138904598
NM_001330260.2(SCN8A):c.421A>G (p.Thr141Ala) rs1941420783
NM_001330260.2(SCN8A):c.4227+11T>C
NM_001330260.2(SCN8A):c.4227+8G>A
NM_001330260.2(SCN8A):c.4227+9TGTTTT[2] rs1938101173
NM_001330260.2(SCN8A):c.4228-19G>A rs1234868325
NM_001330260.2(SCN8A):c.4228-7T>C
NM_001330260.2(SCN8A):c.4228-9G>C rs2138908282
NM_001330260.2(SCN8A):c.4235T>C (p.Phe1412Ser) rs1555228665
NM_001330260.2(SCN8A):c.4237A>G (p.Lys1413Glu) rs1555228668
NM_001330260.2(SCN8A):c.4245G>A (p.Trp1415Ter) rs1555228669
NM_001330260.2(SCN8A):c.424A>G (p.Ile142Val) rs2138711868
NM_001330260.2(SCN8A):c.4264G>A (p.Ala1422Thr) rs2138908345
NM_001330260.2(SCN8A):c.4267G>A (p.Val1423Ile)
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.4281+11A>G
NM_001330260.2(SCN8A):c.4281+14T>C
NM_001330260.2(SCN8A):c.4281+17C>A
NM_001330260.2(SCN8A):c.4281+17C>T
NM_001330260.2(SCN8A):c.4281+6G>A
NM_001330260.2(SCN8A):c.4281+6G>T
NM_001330260.2(SCN8A):c.4281+9G>A
NM_001330260.2(SCN8A):c.4282-10C>G rs369145855
NM_001330260.2(SCN8A):c.4282-10C>T rs369145855
NM_001330260.2(SCN8A):c.4282-14C>A rs1156411784
NM_001330260.2(SCN8A):c.4282-14C>T
NM_001330260.2(SCN8A):c.4282-3C>T
NM_001330260.2(SCN8A):c.4282-9C>G
NM_001330260.2(SCN8A):c.4290G>A (p.Glu1430=)
NM_001330260.2(SCN8A):c.4304A>C (p.Glu1435Ala) rs1938177234
NM_001330260.2(SCN8A):c.4304_4305del (p.Glu1435fs)
NM_001330260.2(SCN8A):c.4305G>A (p.Glu1435=) rs1938177322
NM_001330260.2(SCN8A):c.4308C>T (p.Asp1436=)
NM_001330260.2(SCN8A):c.4311T>C (p.Asn1437=) rs1060504139
NM_001330260.2(SCN8A):c.4314C>T (p.Ile1438=)
NM_001330260.2(SCN8A):c.4320G>T (p.Met1440Ile)
NM_001330260.2(SCN8A):c.4325T>C (p.Ile1442Thr) rs1938177744
NM_001330260.2(SCN8A):c.4328A>G (p.Tyr1443Cys) rs2138909536
NM_001330260.2(SCN8A):c.432C>G (p.Thr144=) rs1450876249
NM_001330260.2(SCN8A):c.4338C>T (p.Ile1446=)
NM_001330260.2(SCN8A):c.4341C>T (p.Phe1447=)
NM_001330260.2(SCN8A):c.4342A>C (p.Ile1448Leu) rs1938178108
NM_001330260.2(SCN8A):c.4342A>G (p.Ile1448Val) rs1938178108
NM_001330260.2(SCN8A):c.4344C>T (p.Ile1448=) rs2138909579
NM_001330260.2(SCN8A):c.434A>G (p.Asn145Ser)
NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser) rs863223345
NM_001330260.2(SCN8A):c.4353C>T (p.Gly1451=)
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.435C>T (p.Asn145=) rs1057522588
NM_001330260.2(SCN8A):c.4371C>A (p.Asn1457Lys) rs2138909619
NM_001330260.2(SCN8A):c.4377C>G (p.Phe1459Leu)
NM_001330260.2(SCN8A):c.4378A>G (p.Ile1460Val) rs2138909633
NM_001330260.2(SCN8A):c.4382G>T (p.Gly1461Val)
NM_001330260.2(SCN8A):c.4383T>C (p.Gly1461=) rs2138909644
NM_001330260.2(SCN8A):c.4384G>A (p.Val1462Ile) rs2138909650
NM_001330260.2(SCN8A):c.4391T>C (p.Ile1464Thr) rs2138909658
NM_001330260.2(SCN8A):c.4393G>A (p.Asp1465Asn) rs1938178701
NM_001330260.2(SCN8A):c.4394A>T (p.Asp1465Val) rs1135401806
NM_001330260.2(SCN8A):c.4397A>C (p.Asn1466Thr) rs587777723
NM_001330260.2(SCN8A):c.4397A>G (p.Asn1466Ser) rs587777723
NM_001330260.2(SCN8A):c.4398C>A (p.Asn1466Lys) rs587777722
NM_001330260.2(SCN8A):c.4398C>G (p.Asn1466Lys)
NM_001330260.2(SCN8A):c.4398C>T (p.Asn1466=)
NM_001330260.2(SCN8A):c.4399T>G (p.Phe1467Val)
NM_001330260.2(SCN8A):c.439G>A (p.Val147Ile)
NM_001330260.2(SCN8A):c.4400T>G (p.Phe1467Cys) rs1938179062
NM_001330260.2(SCN8A):c.4403A>G (p.Asn1468Ser) rs1057518667
NM_001330260.2(SCN8A):c.4404T>C (p.Asn1468=)
NM_001330260.2(SCN8A):c.4408C>A (p.Gln1470Lys)
NM_001330260.2(SCN8A):c.4408C>G (p.Gln1470Glu)
NM_001330260.2(SCN8A):c.4409A>C (p.Gln1470Pro) rs1555228771
NM_001330260.2(SCN8A):c.4409A>G (p.Gln1470Arg) rs1555228771
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.4412del (p.Lys1471fs) rs1938179478
NM_001330260.2(SCN8A):c.4413G>T (p.Lys1471Asn) rs776485215
NM_001330260.2(SCN8A):c.4419+15C>T
NM_001330260.2(SCN8A):c.4419+15dup
NM_001330260.2(SCN8A):c.4419+1A>G rs1064793722
NM_001330260.2(SCN8A):c.4419G>A (p.Lys1473=)
NM_001330260.2(SCN8A):c.4420-1C>A
NM_001330260.2(SCN8A):c.4420-9C>T
NM_001330260.2(SCN8A):c.4422C>T (p.Phe1474=)
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_001330260.2(SCN8A):c.4423G>C (p.Gly1475Arg) rs796053216
NM_001330260.2(SCN8A):c.4426G>A (p.Gly1476Ser) rs1064793263
NM_001330260.2(SCN8A):c.4426G>T (p.Gly1476Cys)
NM_001330260.2(SCN8A):c.4427G>A (p.Gly1476Asp)
NM_001330260.2(SCN8A):c.4432G>A (p.Asp1478Asn) rs2138911518
NM_001330260.2(SCN8A):c.4435A>C (p.Ile1479Leu) rs796053217
NM_001330260.2(SCN8A):c.4435A>G (p.Ile1479Val) rs796053217
NM_001330260.2(SCN8A):c.4436T>C (p.Ile1479Thr) rs1938214529
NM_001330260.2(SCN8A):c.4437C>T (p.Ile1479=)
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.4438T>G (p.Phe1480Val)
NM_001330260.2(SCN8A):c.4441A>G (p.Met1481Val) rs886041670
NM_001330260.2(SCN8A):c.4443_4444delinsTG (p.Met1481_Thr1482delinsIleAla) rs1938214882
NM_001330260.2(SCN8A):c.4444A>G (p.Thr1482Ala)
NM_001330260.2(SCN8A):c.4445C>A (p.Thr1482Asn)
NM_001330260.2(SCN8A):c.4447G>A (p.Glu1483Lys) rs879255652
NM_001330260.2(SCN8A):c.4449A>C (p.Glu1483Asp)
NM_001330260.2(SCN8A):c.4460A>T (p.Lys1487Met)
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.4474A>G (p.Met1492Val) rs1938215673
NM_001330260.2(SCN8A):c.4475T>C (p.Met1492Thr)
NM_001330260.2(SCN8A):c.4477A>G (p.Lys1493Glu) rs1060501011
NM_001330260.2(SCN8A):c.4487G>A (p.Gly1496Asp) rs762777153
NM_001330260.2(SCN8A):c.4492A>G (p.Lys1498Glu) rs1555228931
NM_001330260.2(SCN8A):c.4494G>A (p.Lys1498=)
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.4501C>T (p.Gln1501Ter) rs1057520149
NM_001330260.2(SCN8A):c.4516C>T (p.Arg1506Cys)
NM_001330260.2(SCN8A):c.4518C>T (p.Arg1506=) rs765882259
NM_001330260.2(SCN8A):c.4524+13T>A
NM_001330260.2(SCN8A):c.4524+20T>G
NM_001330260.2(SCN8A):c.4524+3A>G rs1186875917
NM_001330260.2(SCN8A):c.4525-12C>T
NM_001330260.2(SCN8A):c.4525-14C>T
NM_001330260.2(SCN8A):c.4525-3del rs1592167053
NM_001330260.2(SCN8A):c.4525-8del
NM_001330260.2(SCN8A):c.4525-9C>T
NM_001330260.2(SCN8A):c.4533C>T (p.Ile1511=)
NM_001330260.2(SCN8A):c.4540A>G (p.Ile1514Val) rs2138918984
NM_001330260.2(SCN8A):c.4551T>C (p.Asp1517=) rs1565929057
NM_001330260.2(SCN8A):c.4553T>C (p.Phe1518Ser) rs2138919037
NM_001330260.2(SCN8A):c.4556T>C (p.Val1519Ala)
NM_001330260.2(SCN8A):c.4557C>T (p.Val1519=) rs1555229490
NM_001330260.2(SCN8A):c.4568C>A (p.Ala1523Asp) rs2138919071
NM_001330260.2(SCN8A):c.4569C>T (p.Ala1523=) rs2138919081
NM_001330260.2(SCN8A):c.456T>C (p.Ser152=)
NM_001330260.2(SCN8A):c.4575C>G (p.Asp1525Glu)
NM_001330260.2(SCN8A):c.4583T>A (p.Ile1528Asn) rs2138919119
NM_001330260.2(SCN8A):c.4584C>A (p.Ile1528=)
NM_001330260.2(SCN8A):c.4585A>G (p.Met1529Val) rs2138919124
NM_001330260.2(SCN8A):c.4586dup (p.Met1529fs) rs2138919129
NM_001330260.2(SCN8A):c.4587G>T (p.Met1529Ile)
NM_001330260.2(SCN8A):c.4591C>A (p.Leu1531Ile)
NM_001330260.2(SCN8A):c.4591C>T (p.Leu1531Phe) rs1592167109
NM_001330260.2(SCN8A):c.4594A>G (p.Ile1532Val) rs1555229496
NM_001330260.2(SCN8A):c.4594A>T (p.Ile1532Phe) rs1555229496
NM_001330260.2(SCN8A):c.459C>A (p.Asn153Lys) rs2138711905
NM_001330260.2(SCN8A):c.4605_4606del (p.Met1536fs) rs2138919187
NM_001330260.2(SCN8A):c.4606A>C (p.Met1536Leu) rs1938352194
NM_001330260.2(SCN8A):c.4606A>G (p.Met1536Val) rs1938352194
NM_001330260.2(SCN8A):c.4606A>T (p.Met1536Leu) rs1938352194
NM_001330260.2(SCN8A):c.4608G>A (p.Met1536Ile) rs1938352290
NM_001330260.2(SCN8A):c.4608G>C (p.Met1536Ile) rs1938352290
NM_001330260.2(SCN8A):c.4613C>A (p.Thr1538Lys) rs2138919240
NM_001330260.2(SCN8A):c.4621G>A (p.Val1541Met)
NM_001330260.2(SCN8A):c.4629A>G (p.Thr1543=)
NM_001330260.2(SCN8A):c.4636C>G (p.Gln1546Glu) rs1020370285
NM_001330260.2(SCN8A):c.4638A>T (p.Gln1546His)
NM_001330260.2(SCN8A):c.4651dup (p.Glu1551fs) rs2138919307
NM_001330260.2(SCN8A):c.4664A>T (p.Tyr1555Phe)
NM_001330260.2(SCN8A):c.4669A>G (p.Ile1557Val)
NM_001330260.2(SCN8A):c.4679T>C (p.Val1560Ala)
NM_001330260.2(SCN8A):c.4683T>C (p.Phe1561=)
NM_001330260.2(SCN8A):c.4683_4686del (p.Phe1561fs)
NM_001330260.2(SCN8A):c.4688T>C (p.Ile1563Thr) rs190254722
NM_001330260.2(SCN8A):c.4688T>G (p.Ile1563Ser) rs190254722
NM_001330260.2(SCN8A):c.4693T>C (p.Phe1565Leu)
NM_001330260.2(SCN8A):c.4695C>T (p.Phe1565=)
NM_001330260.2(SCN8A):c.4697C>T (p.Thr1566Ile) rs1938354052
NM_001330260.2(SCN8A):c.4704G>A (p.Glu1568=)
NM_001330260.2(SCN8A):c.4704G>T (p.Glu1568Asp) rs1207860967
NM_001330260.2(SCN8A):c.4713C>T (p.Leu1571=)
NM_001330260.2(SCN8A):c.4715A>G (p.Lys1572Arg) rs756839708
NM_001330260.2(SCN8A):c.4722T>C (p.Phe1574=) rs1377093609
NM_001330260.2(SCN8A):c.4725G>T (p.Ala1575=)
NM_001330260.2(SCN8A):c.4727T>C (p.Leu1576Ser) rs953377308
NM_001330260.2(SCN8A):c.4742T>A (p.Phe1581Tyr) rs1555229539
NM_001330260.2(SCN8A):c.4747A>G (p.Ile1583Val) rs1321044528
NM_001330260.2(SCN8A):c.4752C>T (p.Gly1584=)
NM_001330260.2(SCN8A):c.4754G>A (p.Trp1585Ter) rs1555229543
NM_001330260.2(SCN8A):c.4759A>T (p.Ile1587Phe)
NM_001330260.2(SCN8A):c.4767C>T (p.Asp1589=) rs1938356938
NM_001330260.2(SCN8A):c.4770C>G (p.Phe1590Leu)
NM_001330260.2(SCN8A):c.4771G>A (p.Val1591Met) rs1565929209
NM_001330260.2(SCN8A):c.4774G>A (p.Val1592Ile) rs587780454
NM_001330260.2(SCN8A):c.4774G>C (p.Val1592Leu) rs587780454
NM_001330260.2(SCN8A):c.477G>A (p.Lys159=)
NM_001330260.2(SCN8A):c.477G>T (p.Lys159Asn) rs781190497
NM_001330260.2(SCN8A):c.4780_4782del (p.Ile1594del)
NM_001330260.2(SCN8A):c.4781T>C (p.Ile1594Thr) rs2138919636
NM_001330260.2(SCN8A):c.4787C>G (p.Ser1596Cys) rs879255705
NM_001330260.2(SCN8A):c.4794_4795+20dup rs2138919676
NM_001330260.2(SCN8A):c.4796-10C>G
NM_001330260.2(SCN8A):c.4796-10C>T rs1299909863
NM_001330260.2(SCN8A):c.4796-14_4796-13dup
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.4813A>G (p.Ile1605Val) rs879255706
NM_001330260.2(SCN8A):c.4814T>C (p.Ile1605Thr) rs2138942209
NM_001330260.2(SCN8A):c.4817T>C (p.Ile1606Thr) rs2138942215
NM_001330260.2(SCN8A):c.4819G>A (p.Glu1607Lys) rs1555230905
NM_001330260.2(SCN8A):c.4825T>C (p.Tyr1609His) rs2138942236
NM_001330260.2(SCN8A):c.4826A>C (p.Tyr1609Ser)
NM_001330260.2(SCN8A):c.4836C>T (p.Ser1612=) rs2138942256
NM_001330260.2(SCN8A):c.4840A>G (p.Thr1614Ala) rs1555230909
NM_001330260.2(SCN8A):c.4841C>A (p.Thr1614Asn)
NM_001330260.2(SCN8A):c.4842C>T (p.Thr1614=) rs2138942278
NM_001330260.2(SCN8A):c.4849C>T (p.Arg1617Ter) rs770166890
NM_001330260.2(SCN8A):c.485+20G>A
NM_001330260.2(SCN8A):c.485+20G>C
NM_001330260.2(SCN8A):c.485+311del rs142597756
NM_001330260.2(SCN8A):c.485+8A>G rs750126338
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_001330260.2(SCN8A):c.4850G>T (p.Arg1617Leu) rs587777721
NM_001330260.2(SCN8A):c.4858C>T (p.Arg1620Ter)
NM_001330260.2(SCN8A):c.4859G>T (p.Arg1620Leu) rs869312966
NM_001330260.2(SCN8A):c.486-20G>A rs2138712880
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.4865C>A (p.Ala1622Asp) rs1555230924
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.4871T>G (p.Ile1624Ser)
NM_001330260.2(SCN8A):c.4873G>A (p.Gly1625Arg) rs879255708
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.4880T>C (p.Ile1627Thr)
NM_001330260.2(SCN8A):c.4883T>C (p.Leu1628Ser) rs1555230928
NM_001330260.2(SCN8A):c.4883T>G (p.Leu1628Trp) rs1555230928
NM_001330260.2(SCN8A):c.4885C>T (p.Arg1629Cys) rs1592174265
NM_001330260.2(SCN8A):c.4886G>A (p.Arg1629His)
NM_001330260.2(SCN8A):c.4886G>C (p.Arg1629Pro)
NM_001330260.2(SCN8A):c.4887T>G (p.Arg1629=) rs774981346
NM_001330260.2(SCN8A):c.4889T>C (p.Leu1630Pro) rs796053222
NM_001330260.2(SCN8A):c.4892T>A (p.Ile1631Asn) rs1085307999
NM_001330260.2(SCN8A):c.4892T>C (p.Ile1631Thr) rs1085307999
NM_001330260.2(SCN8A):c.4896A>T (p.Lys1632Asn)
NM_001330260.2(SCN8A):c.4900G>A (p.Ala1634Thr) rs996870199
NM_001330260.2(SCN8A):c.4911T>G (p.Ile1637Met) rs2138942487
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>G (p.Thr1639Ser)
NM_001330260.2(SCN8A):c.4916C>T (p.Thr1639Ile) rs2138942509
NM_001330260.2(SCN8A):c.4922T>G (p.Leu1641Arg) rs1592174304
NM_001330260.2(SCN8A):c.4924T>C (p.Phe1642Leu) rs1938703650
NM_001330260.2(SCN8A):c.4930T>C (p.Leu1644=)
NM_001330260.2(SCN8A):c.4933A>G (p.Met1645Val) rs1938703803
NM_001330260.2(SCN8A):c.4934T>G (p.Met1645Arg)
NM_001330260.2(SCN8A):c.4935G>T (p.Met1645Ile)
NM_001330260.2(SCN8A):c.4936A>T (p.Met1646Leu) rs796053223
NM_001330260.2(SCN8A):c.4937T>C (p.Met1646Thr) rs2138942542
NM_001330260.2(SCN8A):c.4944G>C (p.Leu1648Phe) rs773587801
NM_001330260.2(SCN8A):c.4946C>A (p.Pro1649His) rs1938704227
NM_001330260.2(SCN8A):c.4948G>A (p.Ala1650Thr) rs879255709
NM_001330260.2(SCN8A):c.4948G>C (p.Ala1650Pro)
NM_001330260.2(SCN8A):c.4948G>T (p.Ala1650Ser) rs879255709
NM_001330260.2(SCN8A):c.4949C>A (p.Ala1650Asp) rs796053224
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.4966C>T (p.Leu1656Phe) rs1938704933
NM_001330260.2(SCN8A):c.4971G>A (p.Leu1657=)
NM_001330260.2(SCN8A):c.4972C>T (p.Leu1658Phe) rs1938705231
NM_001330260.2(SCN8A):c.4979T>A (p.Leu1660Gln)
NM_001330260.2(SCN8A):c.497C>T (p.Thr166Ile) rs1057520361
NM_001330260.2(SCN8A):c.4981G>A (p.Val1661Ile)
NM_001330260.2(SCN8A):c.4983C>T (p.Val1661=) rs1938705533
NM_001330260.2(SCN8A):c.4989C>T (p.Phe1663=)
NM_001330260.2(SCN8A):c.4995C>T (p.Phe1665=) rs1938705785
NM_001330260.2(SCN8A):c.5013C>T (p.Ser1671=)
NM_001330260.2(SCN8A):c.5015A>G (p.Asn1672Ser) rs1592174367
NM_001330260.2(SCN8A):c.5025T>A (p.Tyr1675Ter)
NM_001330260.2(SCN8A):c.5047G>A (p.Asp1683Asn) rs1023188648
NM_001330260.2(SCN8A):c.5049T>C (p.Asp1683=) rs2138942744
NM_001330260.2(SCN8A):c.5052C>T (p.Asp1684=) rs2138942754
NM_001330260.2(SCN8A):c.5056T>G (p.Phe1686Val)
NM_001330260.2(SCN8A):c.5066A>C (p.Glu1689Ala)
NM_001330260.2(SCN8A):c.5075_5076delinsAA (p.Gly1692Glu)
NM_001330260.2(SCN8A):c.5077_5091del (p.Asn1693_Cys1697del) rs1064796263
NM_001330260.2(SCN8A):c.5084T>C (p.Met1695Thr) rs2138942837
NM_001330260.2(SCN8A):c.5087T>G (p.Ile1696Ser)
NM_001330260.2(SCN8A):c.5107A>G (p.Thr1703Ala)
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.5129TGC[2] (p.Leu1712del) rs2138942921
NM_001330260.2(SCN8A):c.5138C>A (p.Pro1713His)
NM_001330260.2(SCN8A):c.5149C>G (p.Arg1717Gly) rs1451912147
NM_001330260.2(SCN8A):c.5149C>T (p.Arg1717Cys)
NM_001330260.2(SCN8A):c.5150G>A (p.Arg1717His)
NM_001330260.2(SCN8A):c.5152C>T (p.Pro1718Ser) rs794727442
NM_001330260.2(SCN8A):c.5155C>G (p.Pro1719Ala) rs1938709746
NM_001330260.2(SCN8A):c.5156C>G (p.Pro1719Arg) rs1565934070
NM_001330260.2(SCN8A):c.5156dup (p.Pro1719_Asp1720insTer) rs2138942971
NM_001330260.2(SCN8A):c.5157del (p.Asp1720fs) rs2138943001
NM_001330260.2(SCN8A):c.5162G>A (p.Cys1721Tyr) rs2138943030
NM_001330260.2(SCN8A):c.5163C>T (p.Cys1721=) rs1555230976
NM_001330260.2(SCN8A):c.5165G>T (p.Ser1722Ile)
NM_001330260.2(SCN8A):c.5167C>A (p.Leu1723Ile)
NM_001330260.2(SCN8A):c.5167C>G (p.Leu1723Val)
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.5176G>T (p.Glu1726Ter) rs1555230980
NM_001330260.2(SCN8A):c.5178A>G (p.Glu1726=) rs2138943092
NM_001330260.2(SCN8A):c.5179C>A (p.His1727Asn)
NM_001330260.2(SCN8A):c.5181C>A (p.His1727Gln) rs1057519190
NM_001330260.2(SCN8A):c.5225G>C (p.Gly1742Ala) rs2138943188
NM_001330260.2(SCN8A):c.5229CTT[2] (p.Phe1746del) rs1565934130
NM_001330260.2(SCN8A):c.5232C>T (p.Phe1744=) rs1555231003
NM_001330260.2(SCN8A):c.5251A>G (p.Ile1751Val)
NM_001330260.2(SCN8A):c.5256C>G (p.Ile1752Met)
NM_001330260.2(SCN8A):c.5259T>C (p.Ser1753=)
NM_001330260.2(SCN8A):c.5265A>G (p.Leu1755=) rs1555231005
NM_001330260.2(SCN8A):c.5266A>G (p.Ile1756Val) rs1592174549
NM_001330260.2(SCN8A):c.5267T>G (p.Ile1756Ser)
NM_001330260.2(SCN8A):c.5269G>A (p.Val1757Ile) rs1555231008
NM_001330260.2(SCN8A):c.5270T>A (p.Val1757Asp) rs1555231010
NM_001330260.2(SCN8A):c.5272G>A (p.Val1758Met)
NM_001330260.2(SCN8A):c.5276A>G (p.Asn1759Ser) rs869312690
NM_001330260.2(SCN8A):c.5278A>G (p.Met1760Val) rs1938712937
NM_001330260.2(SCN8A):c.5279T>C (p.Met1760Thr) rs1555231012
NM_001330260.2(SCN8A):c.5280G>A (p.Met1760Ile) rs1555231013
NM_001330260.2(SCN8A):c.5284A>C (p.Ile1762Leu)
NM_001330260.2(SCN8A):c.5284A>G (p.Ile1762Val)
NM_001330260.2(SCN8A):c.5284A>T (p.Ile1762Phe) rs2138943320
NM_001330260.2(SCN8A):c.5291T>C (p.Ile1764Thr)
NM_001330260.2(SCN8A):c.5297T>G (p.Leu1766Arg) rs1938713472
NM_001330260.2(SCN8A):c.5298G>A (p.Leu1766=) rs201801330
NM_001330260.2(SCN8A):c.5302A>G (p.Asn1768Asp) rs202151337
NM_001330260.2(SCN8A):c.5305T>C (p.Phe1769Leu) rs2138943375
NM_001330260.2(SCN8A):c.5306T>G (p.Phe1769Cys)
NM_001330260.2(SCN8A):c.5307C>A (p.Phe1769Leu)
NM_001330260.2(SCN8A):c.5311G>A (p.Val1771Ile)
NM_001330260.2(SCN8A):c.5313A>C (p.Val1771=) rs1020683513
NM_001330260.2(SCN8A):c.5313A>G (p.Val1771=)
NM_001330260.2(SCN8A):c.5315C>A (p.Ala1772Asp)
NM_001330260.2(SCN8A):c.531C>A (p.Ile177=) rs2138712970
NM_001330260.2(SCN8A):c.5330_5344del (p.Ala1777_Ser1781del)
NM_001330260.2(SCN8A):c.5333A>G (p.Asp1778Gly) rs1938714598
NM_001330260.2(SCN8A):c.5348A>T (p.Asp1783Val) rs1938715021
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.536C>T (p.Ala179Val) rs2138712976
NM_001330260.2(SCN8A):c.536del (p.Ala179fs)
NM_001330260.2(SCN8A):c.5375G>A (p.Trp1792Ter) rs1938715548
NM_001330260.2(SCN8A):c.5382G>A (p.Lys1794=) rs779027899
NM_001330260.2(SCN8A):c.5385C>A (p.Phe1795Leu) rs748215769
NM_001330260.2(SCN8A):c.5386G>A (p.Asp1796Asn)
NM_001330260.2(SCN8A):c.5389C>T (p.Pro1797Ser)
NM_001330260.2(SCN8A):c.5392G>A (p.Asp1798Asn) rs2138943594
NM_001330260.2(SCN8A):c.5401C>G (p.Gln1801Glu) rs879255710
NM_001330260.2(SCN8A):c.5403G>A (p.Gln1801=) rs1555231039
NM_001330260.2(SCN8A):c.5412G>A (p.Glu1804=)
NM_001330260.2(SCN8A):c.5412G>C (p.Glu1804Asp) rs765354280
NM_001330260.2(SCN8A):c.5416T>C (p.Cys1806Arg)
NM_001330260.2(SCN8A):c.5417G>A (p.Cys1806Tyr) rs796053226
NM_001330260.2(SCN8A):c.5421G>A (p.Lys1807=) rs1938717343
NM_001330260.2(SCN8A):c.5428G>C (p.Asp1810His)
NM_001330260.2(SCN8A):c.5430C>A (p.Asp1810Glu) rs1295392795
NM_001330260.2(SCN8A):c.5441C>G (p.Ala1814Gly) rs1938717640
NM_001330260.2(SCN8A):c.5445G>A (p.Leu1815=) rs2138943697
NM_001330260.2(SCN8A):c.5458C>T (p.Arg1820Ter) rs747526439
NM_001330260.2(SCN8A):c.5459G>A (p.Arg1820Gln) rs919754724
NM_001330260.2(SCN8A):c.5463G>T (p.Val1821=)
NM_001330260.2(SCN8A):c.5466C>T (p.Pro1822=) rs771214217
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_001330260.2(SCN8A):c.5472C>G (p.Pro1824=) rs60637
NM_001330260.2(SCN8A):c.5480T>C (p.Ile1827Thr) rs1938719619
NM_001330260.2(SCN8A):c.548G>C (p.Cys183Ser) rs1941432230
NM_001330260.2(SCN8A):c.5498A>G (p.Asp1833Gly)
NM_001330260.2(SCN8A):c.5499T>A (p.Asp1833Glu) rs1198058104
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.5515G>A (p.Gly1839Arg) rs1938720718
NM_001330260.2(SCN8A):c.5522G>A (p.Arg1841His)
NM_001330260.2(SCN8A):c.5522G>C (p.Arg1841Pro) rs1938720909
NM_001330260.2(SCN8A):c.5528A>C (p.His1843Pro)
NM_001330260.2(SCN8A):c.5531G>C (p.Cys1844Ser)
NM_001330260.2(SCN8A):c.5534T>C (p.Leu1845Ser) rs1555231063
NM_001330260.2(SCN8A):c.5538C>A (p.Asp1846Glu) rs1938721157
NM_001330260.2(SCN8A):c.5547T>G (p.Phe1849Leu) rs2138943950
NM_001330260.2(SCN8A):c.5549C>T (p.Ala1850Val) rs1592174793
NM_001330260.2(SCN8A):c.5555C>T (p.Thr1852Ile) rs796053227
NM_001330260.2(SCN8A):c.5558A>C (p.Lys1853Thr) rs1410900258
NM_001330260.2(SCN8A):c.5559G>C (p.Lys1853Asn)
NM_001330260.2(SCN8A):c.555T>G (p.Asp185Glu)
NM_001330260.2(SCN8A):c.5561G>A (p.Arg1854Gln)
NM_001330260.2(SCN8A):c.5564T>A (p.Val1855Asp) rs2138943984
NM_001330260.2(SCN8A):c.5570del (p.Gly1857fs)
NM_001330260.2(SCN8A):c.5575A>G (p.Ser1859Gly) rs1938722293
NM_001330260.2(SCN8A):c.5579_5599dup (p.Arg1866_Gln1867insArgGluLeuAspIleLeuArg) rs2138944020
NM_001330260.2(SCN8A):c.5582A>G (p.Glu1861Gly) rs2138944042
NM_001330260.2(SCN8A):c.5584T>G (p.Leu1862Val)
NM_001330260.2(SCN8A):c.5588A>C (p.Asp1863Ala) rs2138944062
NM_001330260.2(SCN8A):c.5589C>T (p.Asp1863=)
NM_001330260.2(SCN8A):c.5590A>G (p.Ile1864Val) rs1938723095
NM_001330260.2(SCN8A):c.5593C>G (p.Leu1865Val) rs1288157626
NM_001330260.2(SCN8A):c.5594T>C (p.Leu1865Pro)
NM_001330260.2(SCN8A):c.5595G>A (p.Leu1865=)
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.5598G>A (p.Arg1866=) rs530351787
NM_001330260.2(SCN8A):c.5598del (p.Gln1867fs) rs2138944107
NM_001330260.2(SCN8A):c.5603A>C (p.Gln1868Pro)
NM_001330260.2(SCN8A):c.5605A>G (p.Met1869Val) rs2138944124
NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr) rs1064794727
NM_001330260.2(SCN8A):c.5607G>A (p.Met1869Ile) rs1565934425
NM_001330260.2(SCN8A):c.5608del (p.Glu1870fs)
NM_001330260.2(SCN8A):c.5610A>T (p.Glu1870Asp) rs879255711
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.5619_5621dup (p.Val1874_Ala1875insVal)
NM_001330260.2(SCN8A):c.5620G>C (p.Val1874Leu) rs781602116
NM_001330260.2(SCN8A):c.5621T>G (p.Val1874Gly) rs1938724998
NM_001330260.2(SCN8A):c.5624C>T (p.Ala1875Val)
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001330260.2(SCN8A):c.5633C>G (p.Pro1878Arg)
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.5639A>C (p.Lys1880Thr) rs1938725665
NM_001330260.2(SCN8A):c.5640A>C (p.Lys1880Asn) rs1938725748
NM_001330260.2(SCN8A):c.5642T>C (p.Val1881Ala)
NM_001330260.2(SCN8A):c.5644T>C (p.Ser1882Pro) rs2138944257
NM_001330260.2(SCN8A):c.5645C>A (p.Ser1882Tyr) rs1592174945
NM_001330260.2(SCN8A):c.5645C>T (p.Ser1882Phe)
NM_001330260.2(SCN8A):c.5648A>G (p.Tyr1883Cys) rs2138944280
NM_001330260.2(SCN8A):c.5650G>A (p.Glu1884Lys)
NM_001330260.2(SCN8A):c.5656A>G (p.Ile1886Val) rs1411587460
NM_001330260.2(SCN8A):c.5659A>G (p.Thr1887Ala) rs1592174975
NM_001330260.2(SCN8A):c.5667A>T (p.Thr1889=)
NM_001330260.2(SCN8A):c.5669T>C (p.Leu1890Pro) rs2138944374
NM_001330260.2(SCN8A):c.5671C>T (p.Arg1891Cys)
NM_001330260.2(SCN8A):c.5672G>A (p.Arg1891His) rs1555231135
NM_001330260.2(SCN8A):c.5675G>T (p.Arg1892Leu) rs1565934531
NM_001330260.2(SCN8A):c.567T>G (p.Phe189Leu)
NM_001330260.2(SCN8A):c.5682G>A (p.Gln1894=) rs2138944420
NM_001330260.2(SCN8A):c.5694T>A (p.Ser1898=)
NM_001330260.2(SCN8A):c.5696C>T (p.Ala1899Val) rs1938728013
NM_001330260.2(SCN8A):c.5699T>C (p.Val1900Ala) rs1064796694
NM_001330260.2(SCN8A):c.5713G>A (p.Ala1905Thr)
NM_001330260.2(SCN8A):c.5718C>T (p.Tyr1906=)
NM_001330260.2(SCN8A):c.571C>T (p.Arg191Trp)
NM_001330260.2(SCN8A):c.5721G>A (p.Arg1907=) rs766207565
NM_001330260.2(SCN8A):c.5722G>A (p.Gly1908Arg)
NM_001330260.2(SCN8A):c.572G>A (p.Arg191Gln) rs1345271275
NM_001330260.2(SCN8A):c.5738G>A (p.Arg1913Gln)
NM_001330260.2(SCN8A):c.5740G>A (p.Gly1914Ser)
NM_001330260.2(SCN8A):c.5740G>T (p.Gly1914Cys) rs2138944580
NM_001330260.2(SCN8A):c.5741G>A (p.Gly1914Asp)
NM_001330260.2(SCN8A):c.5744T>C (p.Phe1915Ser) rs2138944589
NM_001330260.2(SCN8A):c.5745C>T (p.Phe1915=)
NM_001330260.2(SCN8A):c.5748C>T (p.Ile1916=) rs1390613897
NM_001330260.2(SCN8A):c.5754A>G (p.Lys1918=) rs1938730493
NM_001330260.2(SCN8A):c.5758A>C (p.Thr1920Pro) rs2138944655
NM_001330260.2(SCN8A):c.5761A>G (p.Thr1921Ala) rs368796221
NM_001330260.2(SCN8A):c.5764T>A (p.Ser1922Thr) rs2138944691
NM_001330260.2(SCN8A):c.5769T>C (p.Asn1923=)
NM_001330260.2(SCN8A):c.5777A>T (p.Glu1926Val)
NM_001330260.2(SCN8A):c.5793C>G (p.His1931Gln) rs1938732126
NM_001330260.2(SCN8A):c.5795G>A (p.Arg1932Gln) rs371766742
NM_001330260.2(SCN8A):c.5796G>A (p.Arg1932=) rs2138944763
NM_001330260.2(SCN8A):c.5800A>G (p.Lys1934Glu) rs1555231174
NM_001330260.2(SCN8A):c.5808G>A (p.Glu1936=)
NM_001330260.2(SCN8A):c.5816C>T (p.Pro1939Leu)
NM_001330260.2(SCN8A):c.5823A>C (p.Thr1941=)
NM_001330260.2(SCN8A):c.5823del (p.Ala1942fs) rs2138944836
NM_001330260.2(SCN8A):c.5832C>T (p.Leu1944=) rs1209111806
NM_001330260.2(SCN8A):c.5834C>T (p.Pro1945Leu)
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.5848G>A (p.Val1950Ile)
NM_001330260.2(SCN8A):c.5852C>G (p.Thr1951Ser) rs2138944903
NM_001330260.2(SCN8A):c.5869_5870insC (p.Lys1957fs) rs867485612
NM_001330260.2(SCN8A):c.5872C>T (p.Gln1958Ter) rs1555231189
NM_001330260.2(SCN8A):c.5879G>T (p.Arg1960Leu)
NM_001330260.2(SCN8A):c.5887G>A (p.Glu1963Lys) rs1057518294
NM_001330260.2(SCN8A):c.5891_5894del (p.Gly1964fs) rs1555231202
NM_001330260.2(SCN8A):c.5896A>C (p.Arg1966=) rs2138945097
NM_001330260.2(SCN8A):c.5897G>A (p.Arg1966Lys)
NM_001330260.2(SCN8A):c.589T>C (p.Leu197=) rs2138713080
NM_001330260.2(SCN8A):c.5903G>C (p.Arg1968Thr)
NM_001330260.2(SCN8A):c.5904_5905del (p.Arg1968fs) rs1938738246
NM_001330260.2(SCN8A):c.5911A>G (p.Arg1971Gly)
NM_001330260.2(SCN8A):c.5924T>C (p.Val1975Ala) rs1565934813
NM_001330260.2(SCN8A):c.5936A>C (p.Lys1979Thr) rs1938739577
NM_001330260.2(SCN8A):c.5938_5941dup (p.Ter1981LeuextTer?) rs2138945210
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.614+12C>A
NM_001330260.2(SCN8A):c.614+13C>T
NM_001330260.2(SCN8A):c.614+1G>A rs1941433358
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.615-10C>T rs1381398989
NM_001330260.2(SCN8A):c.615-11C>A
NM_001330260.2(SCN8A):c.615-11C>G
NM_001330260.2(SCN8A):c.615-142G>T
NM_001330260.2(SCN8A):c.615-143G>T rs376385273
NM_001330260.2(SCN8A):c.615-148G>A rs1592380710
NM_001330260.2(SCN8A):c.615-151G>A
NM_001330260.2(SCN8A):c.615-20T>G rs1219551431
NM_001330260.2(SCN8A):c.615-247dup
NM_001330260.2(SCN8A):c.615-6C>A
NM_001330260.2(SCN8A):c.631G>A (p.Val211Met) rs2138716617
NM_001330260.2(SCN8A):c.631G>T (p.Val211Leu)
NM_001330260.2(SCN8A):c.632T>C (p.Val211Ala) rs1592380834
NM_001330260.2(SCN8A):c.632T>G (p.Val211Gly) rs1592380834
NM_001330260.2(SCN8A):c.635_640del (p.Asp212_Leu213del)
NM_001330260.2(SCN8A):c.638T>C (p.Leu213Pro)
NM_001330260.2(SCN8A):c.640G>A (p.Gly214Ser) rs1555217386
NM_001330260.2(SCN8A):c.641G>A (p.Gly214Asp) rs2138716643
NM_001330260.2(SCN8A):c.647T>C (p.Val216Ala) rs1555217390
NM_001330260.2(SCN8A):c.651A>G (p.Ser217=)
NM_001330260.2(SCN8A):c.652G>C (p.Ala218Pro) rs2138716670
NM_001330260.2(SCN8A):c.653C>A (p.Ala218Glu)
NM_001330260.2(SCN8A):c.653C>T (p.Ala218Val)
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.669G>T (p.Arg223Ser) rs2138716709
NM_001330260.2(SCN8A):c.672T>C (p.Val224=) rs1941465291
NM_001330260.2(SCN8A):c.676C>G (p.Arg226Gly) rs1323578421
NM_001330260.2(SCN8A):c.676C>T (p.Arg226Ter)
NM_001330260.2(SCN8A):c.683T>G (p.Leu228Trp) rs1592380865
NM_001330260.2(SCN8A):c.685A>G (p.Lys229Glu) rs2138716740
NM_001330260.2(SCN8A):c.687A>G (p.Lys229=)
NM_001330260.2(SCN8A):c.689C>T (p.Thr230Ile)
NM_001330260.2(SCN8A):c.690T>C (p.Thr230=)
NM_001330260.2(SCN8A):c.706+11T>G rs767667849
NM_001330260.2(SCN8A):c.706+13G>T
NM_001330260.2(SCN8A):c.706+17A>C rs756313977
NM_001330260.2(SCN8A):c.706+17A>G rs756313977
NM_001330260.2(SCN8A):c.706+5_706+6del
NM_001330260.2(SCN8A):c.707-10G>T rs2138735465
NM_001330260.2(SCN8A):c.707-15A>G rs149586118
NM_001330260.2(SCN8A):c.707-16G>A
NM_001330260.2(SCN8A):c.707-17G>A
NM_001330260.2(SCN8A):c.707-318A>T rs73297665
NM_001330260.2(SCN8A):c.707-6C>T
NM_001330260.2(SCN8A):c.707G>A (p.Gly236Asp) rs1555218603
NM_001330260.2(SCN8A):c.708C>A (p.Gly236=) rs373002273
NM_001330260.2(SCN8A):c.708C>T (p.Gly236=)
NM_001330260.2(SCN8A):c.715A>G (p.Thr239Ala)
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.718A>T (p.Ile240Phe) rs1064793923
NM_001330260.2(SCN8A):c.719T>C (p.Ile240Thr) rs1592387849
NM_001330260.2(SCN8A):c.727G>T (p.Ala243Ser) rs2138735536
NM_001330260.2(SCN8A):c.733A>C (p.Ile245Leu)
NM_001330260.2(SCN8A):c.735T>A (p.Ile245=) rs1592387863
NM_001330260.2(SCN8A):c.736C>T (p.Gln246Ter) rs1555218610
NM_001330260.2(SCN8A):c.737A>G (p.Gln246Arg)
NM_001330260.2(SCN8A):c.751C>G (p.Leu251Val)
NM_001330260.2(SCN8A):c.752T>G (p.Leu251Arg) rs1941649906
NM_001330260.2(SCN8A):c.753G>C (p.Leu251=)
NM_001330260.2(SCN8A):c.755C>G (p.Ser252Ter)
NM_001330260.2(SCN8A):c.760G>A (p.Val254Met) rs1057518293
NM_001330260.2(SCN8A):c.761T>G (p.Val254Gly) rs2138735599
NM_001330260.2(SCN8A):c.762G>A (p.Val254=) rs143307190
NM_001330260.2(SCN8A):c.765G>T (p.Met255Ile) rs1941650264
NM_001330260.2(SCN8A):c.769C>G (p.Leu257Val) rs1064794782
NM_001330260.2(SCN8A):c.772A>G (p.Thr258Ala)
NM_001330260.2(SCN8A):c.773C>T (p.Thr258Ile) rs1555218630
NM_001330260.2(SCN8A):c.778T>G (p.Phe260Val)
NM_001330260.2(SCN8A):c.779T>C (p.Phe260Ser) rs879255697
NM_001330260.2(SCN8A):c.786G>A (p.Leu262=) rs1592387904
NM_001330260.2(SCN8A):c.790G>T (p.Val264Phe) rs2138735683
NM_001330260.2(SCN8A):c.791T>C (p.Val264Ala) rs2138735689
NM_001330260.2(SCN8A):c.796G>A (p.Ala266Thr) rs1941650760
NM_001330260.2(SCN8A):c.800T>C (p.Leu267Ser) rs878853250
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.825del (p.Asn276fs) rs2138735784
NM_001330260.2(SCN8A):c.826A>G (p.Asn276Asp)
NM_001330260.2(SCN8A):c.828C>A (p.Asn276Lys) rs2138735794
NM_001330260.2(SCN8A):c.828C>G (p.Asn276Lys)
NM_001330260.2(SCN8A):c.832C>T (p.Arg278Ter) rs1555218657
NM_001330260.2(SCN8A):c.833G>A (p.Arg278Gln)
NM_001330260.2(SCN8A):c.840G>A (p.Lys280=)
NM_001330260.2(SCN8A):c.844_845del (p.Val282fs)
NM_001330260.2(SCN8A):c.847G>A (p.Val283Met) rs775342033
NM_001330260.2(SCN8A):c.849G>A (p.Val283=)
NM_001330260.2(SCN8A):c.859A>C (p.Asn287His) rs2138735873
NM_001330260.2(SCN8A):c.868G>A (p.Glu290Lys) rs1555218674
NM_001330260.2(SCN8A):c.875A>G (p.Tyr292Cys)
NM_001330260.2(SCN8A):c.885T>C (p.Asn295=) rs1386653667
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.898T>C (p.Phe300Leu)
NM_001330260.2(SCN8A):c.914A>G (p.Tyr305Cys)
NM_001330260.2(SCN8A):c.920A>G (p.Asn307Ser) rs1057519557
NM_001330260.2(SCN8A):c.923A>G (p.Asn308Ser)
NM_001330260.2(SCN8A):c.928+14T>A
NM_001330260.2(SCN8A):c.928+5G>A rs2138736067
NM_001330260.2(SCN8A):c.929-13C>G
NM_001330260.2(SCN8A):c.929-18C>G
NM_001330260.2(SCN8A):c.929-18C>T rs2138738887
NM_001330260.2(SCN8A):c.929-2A>G
NM_001330260.2(SCN8A):c.929-6T>C
NM_001330260.2(SCN8A):c.929-9C>T
NM_001330260.2(SCN8A):c.929-9del
NM_001330260.2(SCN8A):c.948T>C (p.Pro316=)
NM_001330260.2(SCN8A):c.949G>A (p.Gly317Ser)
NM_001330260.2(SCN8A):c.955C>A (p.Leu319Met) rs1380654654
NM_001330260.2(SCN8A):c.971G>A (p.Cys324Tyr) rs2138739035
NM_001330260.2(SCN8A):c.979A>C (p.Ser327Arg) rs776048628
NM_001330260.2(SCN8A):c.980G>C (p.Ser327Thr)
NM_001330260.2(SCN8A):c.981T>A (p.Ser327Arg) rs2138739076
NM_001330260.2(SCN8A):c.986A>C (p.Asp329Ala) rs1592389210
NM_001330260.2(SCN8A):c.986A>G (p.Asp329Gly) rs1592389210
NM_001330260.2(SCN8A):c.992+14C>T
NM_001330260.2(SCN8A):c.992+16A>G rs2138739131
NM_001330260.2(SCN8A):c.993-10del
NM_001330260.2(SCN8A):c.993-12T>C rs2138742262
NM_001330260.2(SCN8A):c.993-14CTTT[2] rs1565892528
NM_001330260.2(SCN8A):c.993-6C>T rs2138742271
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.615-2A>C rs1060504137
NM_014191.4(SCN8A):c.629T>C (p.Phe210Ser) rs879255693
NM_014191.4(SCN8A):c.630T>C (p.Phe210=) rs2138716083
NM_014191.4(SCN8A):c.630T>G (p.Phe210Leu)
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.643A>G (p.Asn215Asp) rs879255695
NM_014191.4(SCN8A):c.647T>A (p.Val216Asp) rs879255696
NM_014191.4(SCN8A):c.647T>G (p.Val216Gly) rs879255696
NM_014191.4(SCN8A):c.649T>C (p.Ser217Pro) rs1064794715
NM_014191.4(SCN8A):c.652G>T (p.Ala218Ser) rs2138716131
NM_014191.4(SCN8A):c.655C>G (p.Leu219Val)
NM_014191.4(SCN8A):c.658C>T (p.Arg220Cys)
NM_014191.4(SCN8A):c.660C>T (p.Arg220=) rs972774428
NM_014191.4(SCN8A):c.667A>G (p.Arg223Gly) rs672601319
NM_014191.4(SCN8A):c.668G>C (p.Arg223Thr)
NM_014191.4(SCN8A):c.669G>T (p.Arg223Ser) rs1592380672
NM_014191.4(SCN8A):c.672A>G (p.Val224=) rs1592380681
NM_014191.4(SCN8A):c.676A>G (p.Arg226Gly) rs1592380687
NM_014191.4(SCN8A):c.678G>A (p.Arg226=)
NM_014191.4(SCN8A):c.680C>T (p.Ala227Val)
NM_014191.4(SCN8A):c.695C>T (p.Ser232Leu)
NM_014191.4(SCN8A):c.697G>A (p.Val233Ile) rs1592380699
NM_014191.4(SCN8A):c.697G>T (p.Val233Leu) rs1592380699
NM_014191.4(SCN8A):c.700A>G (p.Ile234Val) rs2138716234
NM_014191.4(SCN8A):c.706+1G>A rs2138716241
NP_055006.1(SCN8A):p.Pro1428_Lys1473del

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.