NM_001330260.2(SCN8A):c.5795G>C (p.Arg1932Pro)
|
rs371766742
|
0.00016
|
NM_001330260.2(SCN8A):c.1954A>G (p.Ile652Val)
|
rs1048609401
|
0.00010
|
NM_001330260.2(SCN8A):c.1779G>C (p.Glu593Asp)
|
rs760717246
|
0.00005
|
NM_001330260.2(SCN8A):c.2281A>G (p.Ile761Val)
|
rs544063018
|
0.00004
|
NM_001330260.2(SCN8A):c.3061G>C (p.Ala1021Pro)
|
rs781237471
|
0.00004
|
NM_001330260.2(SCN8A):c.3373-8G>A
|
rs1275858718
|
0.00004
|
NM_001330260.2(SCN8A):c.3530A>G (p.Glu1177Gly)
|
rs560509683
|
0.00004
|
NM_001330260.2(SCN8A):c.5735G>A (p.Arg1912Lys)
|
rs764108136
|
0.00004
|
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.3503G>A (p.Arg1168Gln)
|
rs763817893
|
0.00003
|
NM_001330260.2(SCN8A):c.3769G>A (p.Val1257Ile)
|
rs750829844
|
0.00003
|
NM_001330260.2(SCN8A):c.4134G>T (p.Lys1378Asn)
|
rs752899010
|
0.00003
|
NM_001330260.2(SCN8A):c.4678G>A (p.Val1560Met)
|
rs764328953
|
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.1136C>T (p.Thr379Ile)
|
rs761124273
|
0.00002
|
NM_001330260.2(SCN8A):c.1349C>T (p.Ala450Val)
|
rs755154133
|
0.00002
|
NM_001330260.2(SCN8A):c.1519G>C (p.Glu507Gln)
|
rs777851383
|
0.00002
|
NM_001330260.2(SCN8A):c.1707G>C (p.Arg569Ser)
|
rs267603508
|
0.00002
|
NM_001330260.2(SCN8A):c.1876T>C (p.Ser626Pro)
|
rs753009673
|
0.00002
|
NM_001330260.2(SCN8A):c.2002A>G (p.Thr668Ala)
|
rs556325115
|
0.00002
|
NM_001330260.2(SCN8A):c.3267C>A (p.Asn1089Lys)
|
rs761386688
|
0.00002
|
NM_001330260.2(SCN8A):c.340A>G (p.Ile114Val)
|
rs527246057
|
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.4719G>A (p.Met1573Ile)
|
rs780940263
|
0.00002
|
NM_001330260.2(SCN8A):c.5458C>A (p.Arg1820=)
|
rs747526439
|
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.1084G>T (p.Ala362Ser)
|
rs1592390497
|
0.00001
|
NM_001330260.2(SCN8A):c.1165A>T (p.Ile389Phe)
|
rs1334454056
|
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.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.1792C>T (p.Arg598Trp)
|
rs1064796357
|
0.00001
|
NM_001330260.2(SCN8A):c.1801C>T (p.Leu601Phe)
|
rs1374989397
|
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.1828C>A (p.Arg610Ser)
|
rs917515945
|
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.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.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.2139A>C (p.Glu713Asp)
|
rs1218269439
|
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.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.2721G>C (p.Lys907Asn)
|
rs1038198905
|
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.3040A>G (p.Lys1014Glu)
|
rs1019969857
|
0.00001
|
NM_001330260.2(SCN8A):c.3044T>C (p.Val1015Ala)
|
rs1423546979
|
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.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.3230A>G (p.Tyr1077Cys)
|
rs746302474
|
0.00001
|
NM_001330260.2(SCN8A):c.3256T>C (p.Phe1086Leu)
|
rs1395703313
|
0.00001
|
NM_001330260.2(SCN8A):c.3269C>T (p.Pro1090Leu)
|
rs767071719
|
0.00001
|
NM_001330260.2(SCN8A):c.3345C>T (p.Ser1115=)
|
rs745966369
|
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.3496G>A (p.Val1166Ile)
|
rs376406345
|
0.00001
|
NM_001330260.2(SCN8A):c.363A>G (p.Ile121Met)
|
rs752190543
|
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.3761A>G (p.Tyr1254Cys)
|
rs1199744177
|
0.00001
|
NM_001330260.2(SCN8A):c.396-3T>C
|
rs752458453
|
0.00001
|
NM_001330260.2(SCN8A):c.457A>C (p.Asn153His)
|
rs796053232
|
0.00001
|
NM_001330260.2(SCN8A):c.4687A>G (p.Ile1563Val)
|
rs751979396
|
0.00001
|
NM_001330260.2(SCN8A):c.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.4780A>C (p.Ile1594Leu)
|
rs752829853
|
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.520C>G (p.Leu174Val)
|
rs1941432036
|
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.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.5786G>C (p.Gly1929Ala)
|
rs748909364
|
0.00001
|
NM_001330260.2(SCN8A):c.5809A>C (p.Ser1937Arg)
|
rs796053230
|
0.00001
|
NM_001330260.2(SCN8A):c.5836T>A (p.Ser1946Thr)
|
rs376076659
|
0.00001
|
NM_001330260.2(SCN8A):c.5878C>T (p.Arg1960Trp)
|
rs1021136260
|
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.706+1G>A
|
rs1259864188
|
0.00001
|
NM_001330260.2(SCN8A):c.902A>G (p.Asp301Gly)
|
rs368726668
|
0.00001
|
NM_001330260.2(SCN8A):c.996A>G (p.Gln332=)
|
rs1057522020
|
0.00001
|
NC_000012.12:g.(?_51780629)_(51780791_?)del
|
|
|
NM_001330260.2(SCN8A):c.1014G>T (p.Gln338His)
|
|
|
NM_001330260.2(SCN8A):c.1020G>A (p.Met340Ile)
|
|
|
NM_001330260.2(SCN8A):c.1080C>G (p.Phe360Leu)
|
rs1941714033
|
|
NM_001330260.2(SCN8A):c.1094G>A (p.Arg365His)
|
rs1592390511
|
|
NM_001330260.2(SCN8A):c.1101G>A (p.Met367Ile)
|
rs1555219147
|
|
NM_001330260.2(SCN8A):c.1125G>T (p.Leu375Phe)
|
|
|
NM_001330260.2(SCN8A):c.1174G>A (p.Val392Ile)
|
|
|
NM_001330260.2(SCN8A):c.1193G>C (p.Gly398Ala)
|
rs1941767862
|
|
NM_001330260.2(SCN8A):c.1200C>G (p.Phe400Leu)
|
rs2138748176
|
|
NM_001330260.2(SCN8A):c.1229T>C (p.Val410Ala)
|
rs2138748264
|
|
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.1252A>G (p.Asn418Asp)
|
rs1941769135
|
|
NM_001330260.2(SCN8A):c.1265T>A (p.Leu422Gln)
|
|
|
NM_001330260.2(SCN8A):c.1319A>G (p.Lys440Arg)
|
rs1003938127
|
|
NM_001330260.2(SCN8A):c.1341+4G>A
|
|
|
NM_001330260.2(SCN8A):c.1342-18C>G
|
|
|
NM_001330260.2(SCN8A):c.1367G>A (p.Gly456Glu)
|
rs1592393570
|
|
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.1393G>A (p.Glu465Lys)
|
|
|
NM_001330260.2(SCN8A):c.1400G>C (p.Gly467Ala)
|
rs1398266993
|
|
NM_001330260.2(SCN8A):c.1401_1409del (p.465EEG[1])
|
|
|
NM_001330260.2(SCN8A):c.1406A>G (p.Glu469Gly)
|
|
|
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.1426A>C (p.Ser476Arg)
|
rs1060501008
|
|
NM_001330260.2(SCN8A):c.1447C>G (p.Leu483Val)
|
|
|
NM_001330260.2(SCN8A):c.1447C>T (p.Leu483Phe)
|
|
|
NM_001330260.2(SCN8A):c.1468G>C (p.Glu490Gln)
|
rs1555219752
|
|
NM_001330260.2(SCN8A):c.1474C>A (p.Arg492Ser)
|
|
|
NM_001330260.2(SCN8A):c.1493G>C (p.Arg498Thr)
|
rs1941788258
|
|
NM_001330260.2(SCN8A):c.1507C>T (p.Leu503Phe)
|
|
|
NM_001330260.2(SCN8A):c.1520A>C (p.Glu507Ala)
|
rs371383623
|
|
NM_001330260.2(SCN8A):c.1541A>G (p.Lys514Arg)
|
rs1592393860
|
|
NM_001330260.2(SCN8A):c.1570A>G (p.Met524Val)
|
rs886042925
|
|
NM_001330260.2(SCN8A):c.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.1598A>G (p.Asp533Gly)
|
|
|
NM_001330260.2(SCN8A):c.1613G>A (p.Arg538Lys)
|
rs1057518528
|
|
NM_001330260.2(SCN8A):c.1635+3_1635+7del
|
|
|
NM_001330260.2(SCN8A):c.1635+5A>T
|
|
|
NM_001330260.2(SCN8A):c.1637C>T (p.Ser546Leu)
|
|
|
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.1666C>T (p.Leu556Phe)
|
|
|
NM_001330260.2(SCN8A):c.1670C>G (p.Ser557Cys)
|
|
|
NM_001330260.2(SCN8A):c.1672C>T (p.Arg558Cys)
|
|
|
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.1715G>A (p.Gly572Glu)
|
rs1085307867
|
|
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.1774GAG[1] (p.Glu593del)
|
rs1942065333
|
|
NM_001330260.2(SCN8A):c.1787G>A (p.Gly596Asp)
|
rs879267224
|
|
NM_001330260.2(SCN8A):c.1810C>A (p.Pro604Thr)
|
|
|
NM_001330260.2(SCN8A):c.1814T>A (p.Ile605Asn)
|
|
|
NM_001330260.2(SCN8A):c.1822C>T (p.Arg608Cys)
|
|
|
NM_001330260.2(SCN8A):c.1823G>A (p.Arg608His)
|
rs371644624
|
|
NM_001330260.2(SCN8A):c.1825G>A (p.Glu609Lys)
|
|
|
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[3] (p.616GYS[3])
|
rs758276968
|
|
NM_001330260.2(SCN8A):c.1849T>C (p.Tyr617His)
|
rs773608650
|
|
NM_001330260.2(SCN8A):c.1873C>A (p.Arg625Ser)
|
rs912580884
|
|
NM_001330260.2(SCN8A):c.1876T>A (p.Ser626Thr)
|
|
|
NM_001330260.2(SCN8A):c.1883G>T (p.Arg628Leu)
|
|
|
NM_001330260.2(SCN8A):c.1885A>G (p.Ile629Val)
|
|
|
NM_001330260.2(SCN8A):c.1886T>C (p.Ile629Thr)
|
rs2138782988
|
|
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.1916G>A (p.Arg639His)
|
|
|
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.1937A>G (p.Asn646Ser)
|
rs1565900032
|
|
NM_001330260.2(SCN8A):c.1938C>A (p.Asn646Lys)
|
rs186183096
|
|
NM_001330260.2(SCN8A):c.1939G>A (p.Gly647Ser)
|
|
|
NM_001330260.2(SCN8A):c.1940G>C (p.Gly647Ala)
|
|
|
NM_001330260.2(SCN8A):c.1942G>C (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.1962_1982dup (p.Pro655_Gly661dup)
|
rs768554772
|
|
NM_001330260.2(SCN8A):c.1963C>T (p.Pro655Ser)
|
rs954650071
|
|
NM_001330260.2(SCN8A):c.1966G>A (p.Gly656Ser)
|
|
|
NM_001330260.2(SCN8A):c.1969T>C (p.Ser657Pro)
|
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.1985G>A (p.Arg662His)
|
|
|
NM_001330260.2(SCN8A):c.1985G>T (p.Arg662Leu)
|
rs776013286
|
|
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.2005A>G (p.Thr669Ala)
|
|
|
NM_001330260.2(SCN8A):c.2010G>C (p.Glu670Asp)
|
|
|
NM_001330260.2(SCN8A):c.2024A>G (p.Lys675Arg)
|
|
|
NM_001330260.2(SCN8A):c.2044T>G (p.Leu682Val)
|
|
|
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.2069C>T (p.Ser690Phe)
|
|
|
NM_001330260.2(SCN8A):c.2072A>G (p.Tyr691Cys)
|
rs2138828814
|
|
NM_001330260.2(SCN8A):c.2078G>A (p.Arg693Gln)
|
|
|
NM_001330260.2(SCN8A):c.2080A>G (p.Lys694Glu)
|
|
|
NM_001330260.2(SCN8A):c.2098A>G (p.Ile700Val)
|
rs187153231
|
|
NM_001330260.2(SCN8A):c.2107G>A (p.Val703Ile)
|
rs1592140302
|
|
NM_001330260.2(SCN8A):c.2110G>C (p.Val704Leu)
|
|
|
NM_001330260.2(SCN8A):c.2131+3A>G
|
rs1942506871
|
|
NM_001330260.2(SCN8A):c.2131+4T>A
|
rs2138829043
|
|
NM_001330260.2(SCN8A):c.2132-13T>C
|
|
|
NM_001330260.2(SCN8A):c.2153A>G (p.Lys718Arg)
|
rs1355556670
|
|
NM_001330260.2(SCN8A):c.2166C>G (p.Cys722Trp)
|
rs1555224370
|
|
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.2194A>G (p.Ile732Val)
|
rs1375877011
|
|
NM_001330260.2(SCN8A):c.2245A>G (p.Ile749Val)
|
rs1331549282
|
|
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.2291T>C (p.Val764Ala)
|
|
|
NM_001330260.2(SCN8A):c.2320C>T (p.His774Tyr)
|
rs1565910864
|
|
NM_001330260.2(SCN8A):c.2323C>T (p.His775Tyr)
|
|
|
NM_001330260.2(SCN8A):c.2350G>A (p.Val784Ile)
|
rs1942596077
|
|
NM_001330260.2(SCN8A):c.2359G>A (p.Val787Ile)
|
rs1178470597
|
|
NM_001330260.2(SCN8A):c.2370+6A>T
|
rs2138838830
|
|
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.2448T>A (p.Gly816=)
|
|
|
NM_001330260.2(SCN8A):c.2472T>A (p.Ile824=)
|
rs1942778686
|
|
NM_001330260.2(SCN8A):c.2479C>T (p.Leu827Phe)
|
|
|
NM_001330260.2(SCN8A):c.2489T>C (p.Met830Thr)
|
|
|
NM_001330260.2(SCN8A):c.2495T>G (p.Leu832Arg)
|
|
|
NM_001330260.2(SCN8A):c.2509G>A (p.Val837Met)
|
rs2138857855
|
|
NM_001330260.2(SCN8A):c.2534C>T (p.Ser845Phe)
|
rs796053210
|
|
NM_001330260.2(SCN8A):c.2540G>A (p.Arg847Gln)
|
|
|
NM_001330260.2(SCN8A):c.2544+30_2544+31insTTTGGTATTCCATATTTCTCCAATTTCTTTTAAC
|
rs756887880
|
|
NM_001330260.2(SCN8A):c.2545-5C>G
|
rs1592149694
|
|
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.2608A>C (p.Asn870His)
|
rs1942828379
|
|
NM_001330260.2(SCN8A):c.2620G>T (p.Ala874Ser)
|
rs1057524820
|
|
NM_001330260.2(SCN8A):c.2635A>G (p.Thr879Ala)
|
rs2138862740
|
|
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.2675T>C (p.Val892Ala)
|
|
|
NM_001330260.2(SCN8A):c.2708A>C (p.Glu903Ala)
|
rs2138862872
|
|
NM_001330260.2(SCN8A):c.2711G>A (p.Cys904Tyr)
|
|
|
NM_001330260.2(SCN8A):c.2726A>G (p.Asn909Ser)
|
|
|
NM_001330260.2(SCN8A):c.2746C>T (p.Arg916Cys)
|
|
|
NM_001330260.2(SCN8A):c.277-10_277-7del
|
|
|
NM_001330260.2(SCN8A):c.2821A>G (p.Met941Val)
|
|
|
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.2863A>T (p.Ile955Phe)
|
|
|
NM_001330260.2(SCN8A):c.2877G>A (p.Met959Ile)
|
rs2138863091
|
|
NM_001330260.2(SCN8A):c.2881A>G (p.Met961Val)
|
rs1942832105
|
|
NM_001330260.2(SCN8A):c.2894A>G (p.Asn965Ser)
|
|
|
NM_001330260.2(SCN8A):c.2897T>G (p.Leu966Trp)
|
rs1555225844
|
|
NM_001330260.2(SCN8A):c.2901+5G>T
|
rs2138863160
|
|
NM_001330260.2(SCN8A):c.291A>G (p.Leu97=)
|
|
|
NM_001330260.2(SCN8A):c.291A>T (p.Leu97Phe)
|
rs2138707920
|
|
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.2960C>T (p.Ala987Val)
|
|
|
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.3018G>C (p.Lys1006Asn)
|
rs1057317154
|
|
NM_001330260.2(SCN8A):c.3023T>G (p.Val1008Gly)
|
|
|
NM_001330260.2(SCN8A):c.3049G>A (p.Ala1017Thr)
|
|
|
NM_001330260.2(SCN8A):c.3049G>T (p.Ala1017Ser)
|
rs751112057
|
|
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.3103G>A (p.Asp1035Asn)
|
|
|
NM_001330260.2(SCN8A):c.3111G>T (p.Leu1037Phe)
|
|
|
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.3133A>G (p.Ile1045Val)
|
|
|
NM_001330260.2(SCN8A):c.3149G>C (p.Gly1050Ala)
|
rs2138868637
|
|
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.322G>A (p.Ala108Thr)
|
|
|
NM_001330260.2(SCN8A):c.3240T>A (p.Asp1080Glu)
|
|
|
NM_001330260.2(SCN8A):c.3246C>A (p.Asp1082Glu)
|
|
|
NM_001330260.2(SCN8A):c.3259A>G (p.Ile1087Val)
|
rs763424705
|
|
NM_001330260.2(SCN8A):c.3259A>T (p.Ile1087Phe)
|
|
|
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.3293T>A (p.Ile1098Asn)
|
rs1238494045
|
|
NM_001330260.2(SCN8A):c.3298G>A (p.Val1100Met)
|
|
|
NM_001330260.2(SCN8A):c.3303C>T (p.Gly1101=)
|
rs1942886702
|
|
NM_001330260.2(SCN8A):c.3331G>C (p.Glu1111Gln)
|
|
|
NM_001330260.2(SCN8A):c.3346G>A (p.Glu1116Lys)
|
rs1555226176
|
|
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+6G>T
|
rs1942888320
|
|
NM_001330260.2(SCN8A):c.3377T>A (p.Leu1126Gln)
|
rs977168749
|
|
NM_001330260.2(SCN8A):c.3404G>A (p.Ser1135Asn)
|
|
|
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.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.3457G>A (p.Glu1153Lys)
|
rs2138870339
|
|
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.3475G>A (p.Ala1159Thr)
|
rs2138870403
|
|
NM_001330260.2(SCN8A):c.3479G>A (p.Cys1160Tyr)
|
rs1942899278
|
|
NM_001330260.2(SCN8A):c.3490+4_3490+8del
|
|
|
NM_001330260.2(SCN8A):c.3502C>T (p.Arg1168Trp)
|
|
|
NM_001330260.2(SCN8A):c.3509A>G (p.Lys1170Arg)
|
rs774163610
|
|
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.3569C>T (p.Thr1190Ile)
|
|
|
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.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.3646-10T>A
|
rs1942972709
|
|
NM_001330260.2(SCN8A):c.3652G>A (p.Glu1218Lys)
|
rs1555226823
|
|
NM_001330260.2(SCN8A):c.365G>A (p.Arg122Lys)
|
|
|
NM_001330260.2(SCN8A):c.3685C>T (p.Arg1229Cys)
|
|
|
NM_001330260.2(SCN8A):c.3686G>T (p.Arg1229Leu)
|
rs1020998191
|
|
NM_001330260.2(SCN8A):c.368G>A (p.Arg123Lys)
|
|
|
NM_001330260.2(SCN8A):c.3712G>A (p.Val1238Ile)
|
rs1942974112
|
|
NM_001330260.2(SCN8A):c.3724A>G (p.Ile1242Val)
|
|
|
NM_001330260.2(SCN8A):c.3811A>G (p.Ile1271Val)
|
rs2138879236
|
|
NM_001330260.2(SCN8A):c.3813T>G (p.Ile1271Met)
|
|
|
NM_001330260.2(SCN8A):c.3819T>C (p.Ala1273=)
|
|
|
NM_001330260.2(SCN8A):c.3832A>T (p.Ser1278Cys)
|
|
|
NM_001330260.2(SCN8A):c.3838A>G (p.Ile1280Val)
|
|
|
NM_001330260.2(SCN8A):c.3917C>G (p.Ala1306Gly)
|
|
|
NM_001330260.2(SCN8A):c.3921A>T (p.Leu1307Phe)
|
rs1565923638
|
|
NM_001330260.2(SCN8A):c.3926G>A (p.Arg1309Gln)
|
rs201255617
|
|
NM_001330260.2(SCN8A):c.3932A>T (p.Glu1311Val)
|
|
|
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.3942+2_3942+5dup
|
rs764867016
|
|
NM_001330260.2(SCN8A):c.3942+3A>T
|
|
|
NM_001330260.2(SCN8A):c.3946G>T (p.Val1316Leu)
|
rs2138903944
|
|
NM_001330260.2(SCN8A):c.394T>C (p.Ser132Pro)
|
|
|
NM_001330260.2(SCN8A):c.395+4T>C
|
|
|
NM_001330260.2(SCN8A):c.396-9C>A
|
|
|
NM_001330260.2(SCN8A):c.397G>A (p.Val133Ile)
|
|
|
NM_001330260.2(SCN8A):c.3982A>G (p.Met1328Val)
|
rs1938092498
|
|
NM_001330260.2(SCN8A):c.3988G>A (p.Val1330Met)
|
|
|
NM_001330260.2(SCN8A):c.4000T>C (p.Cys1334Arg)
|
rs2138904131
|
|
NM_001330260.2(SCN8A):c.4064A>G (p.Tyr1355Cys)
|
rs1592162522
|
|
NM_001330260.2(SCN8A):c.4078A>T (p.Thr1360Ser)
|
rs796053215
|
|
NM_001330260.2(SCN8A):c.4088T>C (p.Ile1363Thr)
|
rs1229965891
|
|
NM_001330260.2(SCN8A):c.4174G>A (p.Val1392Met)
|
rs770135840
|
|
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.4228-7T>C
|
|
|
NM_001330260.2(SCN8A):c.4235T>C (p.Phe1412Ser)
|
rs1555228665
|
|
NM_001330260.2(SCN8A):c.424A>G (p.Ile142Val)
|
rs2138711868
|
|
NM_001330260.2(SCN8A):c.4277G>A (p.Arg1426Gln)
|
rs1057524240
|
|
NM_001330260.2(SCN8A):c.4281+6G>A
|
|
|
NM_001330260.2(SCN8A):c.4281+6G>T
|
|
|
NM_001330260.2(SCN8A):c.4282-3C>T
|
|
|
NM_001330260.2(SCN8A):c.4325T>C (p.Ile1442Thr)
|
rs1938177744
|
|
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.434A>G (p.Asn145Ser)
|
|
|
NM_001330260.2(SCN8A):c.4382G>T (p.Gly1461Val)
|
|
|
NM_001330260.2(SCN8A):c.4400T>G (p.Phe1467Cys)
|
rs1938179062
|
|
NM_001330260.2(SCN8A):c.4411A>C (p.Lys1471Gln)
|
rs1057521767
|
|
NM_001330260.2(SCN8A):c.4413G>T (p.Lys1471Asn)
|
rs776485215
|
|
NM_001330260.2(SCN8A):c.4419G>A (p.Lys1473=)
|
|
|
NM_001330260.2(SCN8A):c.4420-1C>A
|
|
|
NM_001330260.2(SCN8A):c.4422C>T (p.Phe1474=)
|
|
|
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.4441A>G (p.Met1481Val)
|
rs886041670
|
|
NM_001330260.2(SCN8A):c.4444A>G (p.Thr1482Ala)
|
|
|
NM_001330260.2(SCN8A):c.4449A>C (p.Glu1483Asp)
|
|
|
NM_001330260.2(SCN8A):c.4471G>A (p.Ala1491Thr)
|
rs1592164705
|
|
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.4492A>G (p.Lys1498Glu)
|
rs1555228931
|
|
NM_001330260.2(SCN8A):c.4516C>T (p.Arg1506Cys)
|
|
|
NM_001330260.2(SCN8A):c.4524+3A>G
|
rs1186875917
|
|
NM_001330260.2(SCN8A):c.4553T>C (p.Phe1518Ser)
|
rs2138919037
|
|
NM_001330260.2(SCN8A):c.4556T>C (p.Val1519Ala)
|
|
|
NM_001330260.2(SCN8A):c.456T>C (p.Ser152=)
|
|
|
NM_001330260.2(SCN8A):c.4591C>A (p.Leu1531Ile)
|
|
|
NM_001330260.2(SCN8A):c.459C>A (p.Asn153Lys)
|
rs2138711905
|
|
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.4621G>A (p.Val1541Met)
|
|
|
NM_001330260.2(SCN8A):c.4636C>G (p.Gln1546Glu)
|
rs1020370285
|
|
NM_001330260.2(SCN8A):c.4638A>T (p.Gln1546His)
|
|
|
NM_001330260.2(SCN8A):c.4669A>G (p.Ile1557Val)
|
|
|
NM_001330260.2(SCN8A):c.4679T>C (p.Val1560Ala)
|
|
|
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.4697C>T (p.Thr1566Ile)
|
rs1938354052
|
|
NM_001330260.2(SCN8A):c.4704G>T (p.Glu1568Asp)
|
rs1207860967
|
|
NM_001330260.2(SCN8A):c.4727T>C (p.Leu1576Ser)
|
rs953377308
|
|
NM_001330260.2(SCN8A):c.4747A>G (p.Ile1583Val)
|
rs1321044528
|
|
NM_001330260.2(SCN8A):c.4759A>T (p.Ile1587Phe)
|
|
|
NM_001330260.2(SCN8A):c.4770C>G (p.Phe1590Leu)
|
|
|
NM_001330260.2(SCN8A):c.4771G>A (p.Val1591Met)
|
rs1565929209
|
|
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.4794_4795+20dup
|
rs2138919676
|
|
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.4825T>C (p.Tyr1609His)
|
rs2138942236
|
|
NM_001330260.2(SCN8A):c.4826A>C (p.Tyr1609Ser)
|
|
|
NM_001330260.2(SCN8A):c.4858C>T (p.Arg1620Ter)
|
|
|
NM_001330260.2(SCN8A):c.4877G>T (p.Arg1626Leu)
|
rs886044328
|
|
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.4889T>C (p.Leu1630Pro)
|
rs796053222
|
|
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.4912C>T (p.Arg1638Cys)
|
rs1938703307
|
|
NM_001330260.2(SCN8A):c.4916C>G (p.Thr1639Ser)
|
|
|
NM_001330260.2(SCN8A):c.4936A>T (p.Met1646Leu)
|
rs796053223
|
|
NM_001330260.2(SCN8A):c.4944G>C (p.Leu1648Phe)
|
rs773587801
|
|
NM_001330260.2(SCN8A):c.4966C>T (p.Leu1656Phe)
|
rs1938704933
|
|
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.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.5056T>G (p.Phe1686Val)
|
|
|
NM_001330260.2(SCN8A):c.5066A>C (p.Glu1689Ala)
|
|
|
NM_001330260.2(SCN8A):c.5107A>G (p.Thr1703Ala)
|
|
|
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.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.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.5176G>T (p.Glu1726Ter)
|
rs1555230980
|
|
NM_001330260.2(SCN8A):c.5225G>C (p.Gly1742Ala)
|
rs2138943188
|
|
NM_001330260.2(SCN8A):c.5251A>G (p.Ile1751Val)
|
|
|
NM_001330260.2(SCN8A):c.5266A>G (p.Ile1756Val)
|
rs1592174549
|
|
NM_001330260.2(SCN8A):c.5269G>A (p.Val1757Ile)
|
rs1555231008
|
|
NM_001330260.2(SCN8A):c.5284A>T (p.Ile1762Phe)
|
rs2138943320
|
|
NM_001330260.2(SCN8A):c.5291T>C (p.Ile1764Thr)
|
|
|
NM_001330260.2(SCN8A):c.5298G>A (p.Leu1766=)
|
rs201801330
|
|
NM_001330260.2(SCN8A):c.5305T>C (p.Phe1769Leu)
|
rs2138943375
|
|
NM_001330260.2(SCN8A):c.5307C>A (p.Phe1769Leu)
|
|
|
NM_001330260.2(SCN8A):c.5311G>A (p.Val1771Ile)
|
|
|
NM_001330260.2(SCN8A):c.5315C>A (p.Ala1772Asp)
|
|
|
NM_001330260.2(SCN8A):c.5330_5344del (p.Ala1777_Ser1781del)
|
|
|
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.5385C>A (p.Phe1795Leu)
|
rs748215769
|
|
NM_001330260.2(SCN8A):c.5389C>T (p.Pro1797Ser)
|
|
|
NM_001330260.2(SCN8A):c.5392G>A (p.Asp1798Asn)
|
rs2138943594
|
|
NM_001330260.2(SCN8A):c.5416T>C (p.Cys1806Arg)
|
|
|
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.5458C>T (p.Arg1820Ter)
|
rs747526439
|
|
NM_001330260.2(SCN8A):c.5459G>A (p.Arg1820Gln)
|
rs919754724
|
|
NM_001330260.2(SCN8A):c.5480T>C (p.Ile1827Thr)
|
rs1938719619
|
|
NM_001330260.2(SCN8A):c.5498A>G (p.Asp1833Gly)
|
|
|
NM_001330260.2(SCN8A):c.5506A>T (p.Met1836Leu)
|
rs202187894
|
|
NM_001330260.2(SCN8A):c.5515G>A (p.Gly1839Arg)
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rs1938720718
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NM_001330260.2(SCN8A):c.5522G>A (p.Arg1841His)
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NM_001330260.2(SCN8A):c.5522G>C (p.Arg1841Pro)
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rs1938720909
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NM_001330260.2(SCN8A):c.5528A>C (p.His1843Pro)
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NM_001330260.2(SCN8A):c.5534T>C (p.Leu1845Ser)
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rs1555231063
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NM_001330260.2(SCN8A):c.5549C>T (p.Ala1850Val)
|
rs1592174793
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NM_001330260.2(SCN8A):c.5555C>T (p.Thr1852Ile)
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rs796053227
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NM_001330260.2(SCN8A):c.5559G>C (p.Lys1853Asn)
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NM_001330260.2(SCN8A):c.5570del (p.Gly1857fs)
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NM_001330260.2(SCN8A):c.5582A>G (p.Glu1861Gly)
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rs2138944042
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NM_001330260.2(SCN8A):c.5588A>C (p.Asp1863Ala)
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rs2138944062
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NM_001330260.2(SCN8A):c.5590A>G (p.Ile1864Val)
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rs1938723095
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NM_001330260.2(SCN8A):c.5596C>T (p.Arg1866Trp)
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rs1938723469
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NM_001330260.2(SCN8A):c.5597G>A (p.Arg1866Gln)
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rs1555231108
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NM_001330260.2(SCN8A):c.5603A>C (p.Gln1868Pro)
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NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr)
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rs1064794727
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NM_001330260.2(SCN8A):c.5607G>A (p.Met1869Ile)
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rs1565934425
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NM_001330260.2(SCN8A):c.5608del (p.Glu1870fs)
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NM_001330260.2(SCN8A):c.5619_5621dup (p.Val1874_Ala1875insVal)
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NM_001330260.2(SCN8A):c.5624C>T (p.Ala1875Val)
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NM_001330260.2(SCN8A):c.5638A>G (p.Lys1880Glu)
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rs1555231128
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NM_001330260.2(SCN8A):c.5639A>C (p.Lys1880Thr)
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rs1938725665
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NM_001330260.2(SCN8A):c.5640A>C (p.Lys1880Asn)
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rs1938725748
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NM_001330260.2(SCN8A):c.5644T>C (p.Ser1882Pro)
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rs2138944257
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NM_001330260.2(SCN8A):c.5645C>A (p.Ser1882Tyr)
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rs1592174945
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NM_001330260.2(SCN8A):c.5645C>T (p.Ser1882Phe)
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NM_001330260.2(SCN8A):c.5648A>G (p.Tyr1883Cys)
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rs2138944280
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NM_001330260.2(SCN8A):c.5650G>A (p.Glu1884Lys)
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NM_001330260.2(SCN8A):c.5659A>G (p.Thr1887Ala)
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rs1592174975
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NM_001330260.2(SCN8A):c.5669T>C (p.Leu1890Pro)
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rs2138944374
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NM_001330260.2(SCN8A):c.5671C>T (p.Arg1891Cys)
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NM_001330260.2(SCN8A):c.5672G>A (p.Arg1891His)
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rs1555231135
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NM_001330260.2(SCN8A):c.5675G>T (p.Arg1892Leu)
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rs1565934531
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NM_001330260.2(SCN8A):c.567T>G (p.Phe189Leu)
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NM_001330260.2(SCN8A):c.5696C>T (p.Ala1899Val)
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rs1938728013
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NM_001330260.2(SCN8A):c.5713G>A (p.Ala1905Thr)
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NM_001330260.2(SCN8A):c.571C>T (p.Arg191Trp)
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NM_001330260.2(SCN8A):c.5722G>A (p.Gly1908Arg)
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NM_001330260.2(SCN8A):c.572G>A (p.Arg191Gln)
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rs1345271275
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NM_001330260.2(SCN8A):c.5738G>A (p.Arg1913Gln)
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NM_001330260.2(SCN8A):c.5740G>T (p.Gly1914Cys)
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rs2138944580
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NM_001330260.2(SCN8A):c.5741G>A (p.Gly1914Asp)
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NM_001330260.2(SCN8A):c.5758A>C (p.Thr1920Pro)
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rs2138944655
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NM_001330260.2(SCN8A):c.5761A>G (p.Thr1921Ala)
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rs368796221
|
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NM_001330260.2(SCN8A):c.5764T>A (p.Ser1922Thr)
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rs2138944691
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NM_001330260.2(SCN8A):c.5777A>T (p.Glu1926Val)
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NM_001330260.2(SCN8A):c.5793C>G (p.His1931Gln)
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rs1938732126
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NM_001330260.2(SCN8A):c.5795G>A (p.Arg1932Gln)
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rs371766742
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NM_001330260.2(SCN8A):c.5800A>G (p.Lys1934Glu)
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rs1555231174
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NM_001330260.2(SCN8A):c.5823del (p.Ala1942fs)
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rs2138944836
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NM_001330260.2(SCN8A):c.5834C>T (p.Pro1945Leu)
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NM_001330260.2(SCN8A):c.5848G>A (p.Val1950Ile)
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NM_001330260.2(SCN8A):c.5869_5870insC (p.Lys1957fs)
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rs867485612
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NM_001330260.2(SCN8A):c.5872C>T (p.Gln1958Ter)
|
rs1555231189
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NM_001330260.2(SCN8A):c.5879G>T (p.Arg1960Leu)
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NM_001330260.2(SCN8A):c.5903G>C (p.Arg1968Thr)
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NM_001330260.2(SCN8A):c.5904_5905del (p.Arg1968fs)
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rs1938738246
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NM_001330260.2(SCN8A):c.5924T>C (p.Val1975Ala)
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rs1565934813
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NM_001330260.2(SCN8A):c.5938_5941dup (p.Ter1981LeuextTer?)
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rs2138945210
|
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NM_001330260.2(SCN8A):c.615-151G>A
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NM_001330260.2(SCN8A):c.631G>A (p.Val211Met)
|
rs2138716617
|
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NM_001330260.2(SCN8A):c.635_640del (p.Asp212_Leu213del)
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NM_001330260.2(SCN8A):c.638T>C (p.Leu213Pro)
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NM_001330260.2(SCN8A):c.640G>A (p.Gly214Ser)
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rs1555217386
|
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NM_001330260.2(SCN8A):c.641G>A (p.Gly214Asp)
|
rs2138716643
|
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NM_001330260.2(SCN8A):c.647T>C (p.Val216Ala)
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rs1555217390
|
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NM_001330260.2(SCN8A):c.652G>C (p.Ala218Pro)
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rs2138716670
|
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NM_001330260.2(SCN8A):c.653C>T (p.Ala218Val)
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NM_001330260.2(SCN8A):c.668G>C (p.Arg223Thr)
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rs1592380859
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NM_001330260.2(SCN8A):c.685A>G (p.Lys229Glu)
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rs2138716740
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NM_001330260.2(SCN8A):c.689C>T (p.Thr230Ile)
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|
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NM_001330260.2(SCN8A):c.706+17A>G
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rs756313977
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NM_001330260.2(SCN8A):c.706+5_706+6del
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|
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NM_001330260.2(SCN8A):c.707G>A (p.Gly236Asp)
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rs1555218603
|
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NM_001330260.2(SCN8A):c.715A>G (p.Thr239Ala)
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|
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NM_001330260.2(SCN8A):c.733A>C (p.Ile245Leu)
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|
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NM_001330260.2(SCN8A):c.790G>T (p.Val264Phe)
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rs2138735683
|
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NM_001330260.2(SCN8A):c.791T>C (p.Val264Ala)
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rs2138735689
|
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NM_001330260.2(SCN8A):c.813G>C (p.Gln271His)
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NM_001330260.2(SCN8A):c.826A>G (p.Asn276Asp)
|
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NM_001330260.2(SCN8A):c.833G>A (p.Arg278Gln)
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|
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NM_001330260.2(SCN8A):c.847G>A (p.Val283Met)
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rs775342033
|
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NM_001330260.2(SCN8A):c.868G>A (p.Glu290Lys)
|
rs1555218674
|
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NM_001330260.2(SCN8A):c.898T>C (p.Phe300Leu)
|
|
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NM_001330260.2(SCN8A):c.923A>G (p.Asn308Ser)
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NM_001330260.2(SCN8A):c.949G>A (p.Gly317Ser)
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NM_001330260.2(SCN8A):c.955C>A (p.Leu319Met)
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rs1380654654
|
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NM_001330260.2(SCN8A):c.981T>A (p.Ser327Arg)
|
rs2138739076
|
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NM_001330260.2(SCN8A):c.986A>C (p.Asp329Ala)
|
rs1592389210
|
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NM_001330260.2(SCN8A):c.986A>G (p.Asp329Gly)
|
rs1592389210
|
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NM_001330260.2(SCN8A):c.993-14CTTT[2]
|
rs1565892528
|
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NM_014191.4(SCN8A):c.630T>G (p.Phe210Leu)
|
|
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NM_014191.4(SCN8A):c.658C>T (p.Arg220Cys)
|
|
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NM_014191.4(SCN8A):c.660C>T (p.Arg220=)
|
rs972774428
|
|
NM_014191.4(SCN8A):c.680C>T (p.Ala227Val)
|
|
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NM_014191.4(SCN8A):c.695C>T (p.Ser232Leu)
|
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NM_014191.4(SCN8A):c.700A>G (p.Ile234Val)
|
rs2138716234
|
|