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