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
|
|
|