|
NM_145239.3(PRRT2):c.751T>C (p.Leu251=)
|
rs11150573
|
0.99277
|
|
NM_001330260.2(SCN8A):c.4796-38C>A
|
rs303828
|
0.86075
|
|
NM_001040142.2(SCN2A):c.268-28A>G
|
rs7593568
|
0.82099
|
|
NM_001040142.2(SCN2A):c.1671+49A>G
|
rs1838846
|
0.82025
|
|
NM_001040142.2(SCN2A):c.1035-3T>C
|
rs2121371
|
0.82016
|
|
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.4509T>C (p.Pro1503=)
|
rs303815
|
0.62374
|
|
NM_001040142.2(SCN2A):c.1672-16C>T
|
rs1867864
|
0.56164
|
|
NM_001040142.2(SCN2A):c.*1713G>A
|
rs1007722
|
0.37578
|
|
NM_001040142.2(SCN2A):c.4914T>A (p.Arg1638=)
|
rs2060198
|
0.25169
|
|
NM_001040142.2(SCN2A):c.4255-31A>G
|
rs1864885
|
0.20300
|
|
NM_001040142.2(SCN2A):c.56G>A (p.Arg19Lys)
|
rs17183814
|
0.06063
|
|
NM_001040142.2(SCN2A):c.*1758C>T
|
rs75263553
|
0.03304
|
|
NM_001040142.2(SCN2A):c.*2364T>G
|
rs73969402
|
0.01942
|
|
NM_001040142.2(SCN2A):c.*2422G>T
|
rs73972503
|
0.01941
|
|
NM_001040142.2(SCN2A):c.*2440C>G
|
rs73972504
|
0.01941
|
|
NM_001330260.2(SCN8A):c.1833G>T (p.Arg611=)
|
rs35242963
|
0.01438
|
|
NM_001040142.2(SCN2A):c.1785T>C (p.Asp595=)
|
rs141815642
|
0.01027
|
|
NM_001040142.2(SCN2A):c.*2423A>G
|
rs77976453
|
0.00934
|
|
NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=)
|
rs73025979
|
0.00908
|
|
NM_001040142.2(SCN2A):c.1842G>T (p.Pro614=)
|
rs114315466
|
0.00790
|
|
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=)
|
rs139815570
|
0.00662
|
|
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=)
|
rs138123155
|
0.00559
|
|
NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=)
|
rs115623439
|
0.00531
|
|
NM_001040142.2(SCN2A):c.*417C>T
|
rs141754622
|
0.00527
|
|
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=)
|
rs147891446
|
0.00486
|
|
NM_001040142.2(SCN2A):c.3675+19A>G
|
rs142439830
|
0.00367
|
|
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg)
|
rs2228980
|
0.00365
|
|
NM_001040142.2(SCN2A):c.*1507T>G
|
rs149580267
|
0.00297
|
|
NM_001040142.2(SCN2A):c.387-10G>A
|
rs2304015
|
0.00277
|
|
NM_001040142.2(SCN2A):c.*1036T>C
|
rs562663760
|
0.00256
|
|
NM_001040142.2(SCN2A):c.2955C>T (p.Ser985=)
|
rs149859004
|
0.00252
|
|
NM_001040142.2(SCN2A):c.*853C>T
|
rs188104763
|
0.00251
|
|
NM_001040142.2(SCN2A):c.*557G>A
|
rs182846824
|
0.00235
|
|
NM_001330260.2(SCN8A):c.141C>T (p.Asp47=)
|
rs149013279
|
0.00196
|
|
NM_001040142.2(SCN2A):c.*1056T>C
|
rs184628337
|
0.00195
|
|
NM_001040142.2(SCN2A):c.5910G>A (p.Thr1970=)
|
rs75057869
|
0.00190
|
|
NM_001330260.2(SCN8A):c.4278G>A (p.Arg1426=)
|
rs143867796
|
0.00183
|
|
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=)
|
rs145662546
|
0.00166
|
|
NM_001040142.1(SCN2A):c.*2490G>A
|
rs189308010
|
0.00146
|
|
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=)
|
rs2227898
|
0.00144
|
|
NM_001330260.2(SCN8A):c.2098A>T (p.Ile700Leu)
|
rs187153231
|
0.00138
|
|
NM_001040142.2(SCN2A):c.*1474G>A
|
rs138232803
|
0.00124
|
|
NM_001040142.2(SCN2A):c.*2480A>G
|
rs184839439
|
0.00123
|
|
NM_001040142.2(SCN2A):c.*874A>G
|
rs572817494
|
0.00111
|
|
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys)
|
rs140383655
|
0.00110
|
|
NM_001040142.2(SCN2A):c.*2222G>A
|
rs187365022
|
0.00104
|
|
NM_001040142.2(SCN2A):c.3594G>A (p.Arg1198=)
|
rs140194137
|
0.00096
|
|
NM_001040142.2(SCN2A):c.5446G>T (p.Ala1816Ser)
|
rs147084515
|
0.00079
|
|
NM_001040142.2(SCN2A):c.897A>G (p.Ser299=)
|
rs143765389
|
0.00076
|
|
NM_001040142.2(SCN2A):c.*792A>G
|
rs539290679
|
0.00074
|
|
NM_001040142.2(SCN2A):c.5757C>T (p.Tyr1919=)
|
rs140417984
|
0.00069
|
|
NM_001040142.2(SCN2A):c.5505C>T (p.Asn1835=)
|
rs6706924
|
0.00068
|
|
NM_001040142.2(SCN2A):c.386+17C>T
|
rs201918346
|
0.00066
|
|
NM_001040142.2(SCN2A):c.-51-1734del
|
rs886054994
|
0.00064
|
|
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr)
|
rs144814658
|
0.00063
|
|
NM_001040142.2(SCN2A):c.2389-18A>C
|
rs376273827
|
0.00063
|
|
NM_001040142.2(SCN2A):c.2388+9C>A
|
rs191955969
|
0.00054
|
|
NM_001040142.2(SCN2A):c.5155T>C (p.Leu1719=)
|
rs199698414
|
0.00050
|
|
NM_145239.3(PRRT2):c.439G>C (p.Asp147His)
|
rs79568162
|
0.00044
|
|
NM_001040142.2(SCN2A):c.4257C>T (p.Ala1419=)
|
rs141153302
|
0.00043
|
|
NM_001040142.2(SCN2A):c.1416A>G (p.Arg472=)
|
rs200246820
|
0.00040
|
|
NM_001040142.2(SCN2A):c.*2374T>G
|
rs544322279
|
0.00039
|
|
NM_145239.3(PRRT2):c.644C>G (p.Pro215Arg)
|
rs200926711
|
0.00039
|
|
NM_001040142.2(SCN2A):c.*2039A>G
|
rs554913735
|
0.00038
|
|
NM_001040142.2(SCN2A):c.-51-1762A>T
|
rs1208312868
|
0.00035
|
|
NM_001040142.2(SCN2A):c.2149+8A>G
|
rs199897920
|
0.00033
|
|
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala)
|
rs184769423
|
0.00032
|
|
NM_001040142.2(SCN2A):c.4860G>A (p.Val1620=)
|
rs369939991
|
0.00031
|
|
NM_001040142.2(SCN2A):c.1402_1404del (p.Ser468del)
|
rs780584405
|
0.00027
|
|
NM_001040142.2(SCN2A):c.82C>T (p.Arg28Cys)
|
rs200884216
|
0.00027
|
|
NM_145239.3(PRRT2):c.635A>G (p.Asn212Ser)
|
rs779020826
|
0.00026
|
|
NM_001040142.2(SCN2A):c.2923C>T (p.Leu975=)
|
rs375858093
|
0.00025
|
|
NM_001040142.2(SCN2A):c.952G>A (p.Glu318Lys)
|
rs149987700
|
0.00024
|
|
NM_001040142.2(SCN2A):c.5397T>C (p.Tyr1799=)
|
rs200603552
|
0.00023
|
|
NM_001040142.2(SCN2A):c.879T>G (p.Thr293=)
|
rs201685102
|
0.00019
|
|
NM_001040142.2(SCN2A):c.1035-7A>C
|
rs558800241
|
0.00017
|
|
NM_001040142.2(SCN2A):c.5517C>T (p.Leu1839=)
|
rs148424455
|
0.00017
|
|
NM_001330260.2(SCN8A):c.3148G>A (p.Gly1050Ser)
|
rs202006479
|
0.00017
|
|
NM_001040142.2(SCN2A):c.*2358A>C
|
rs191911206
|
0.00016
|
|
NM_001040142.2(SCN2A):c.2389G>A (p.Val797Ile)
|
rs142128956
|
0.00016
|
|
NM_001040142.2(SCN2A):c.4287T>C (p.Tyr1429=)
|
rs150209984
|
0.00016
|
|
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala)
|
rs147522594
|
0.00016
|
|
NM_001040142.2(SCN2A):c.2149+19G>A
|
rs188453890
|
0.00015
|
|
NM_001040142.2(SCN2A):c.5468A>C (p.Asp1823Ala)
|
rs138497939
|
0.00015
|
|
NM_001040142.2(SCN2A):c.5753G>A (p.Arg1918His)
|
rs201718767
|
0.00015
|
|
NM_001040142.2(SCN2A):c.*88G>A
|
rs574867892
|
0.00014
|
|
NM_001040142.2(SCN2A):c.960T>C (p.Ile320=)
|
rs185590667
|
0.00014
|
|
NM_001040142.2(SCN2A):c.1712G>A (p.Arg571His)
|
rs138138150
|
0.00013
|
|
NM_001040142.2(SCN2A):c.3520+11C>T
|
rs187452739
|
0.00013
|
|
NM_001040142.2(SCN2A):c.3954C>A (p.Ser1318=)
|
rs139507841
|
0.00013
|
|
NM_001040142.2(SCN2A):c.2050C>T (p.Arg684Trp)
|
rs200783308
|
0.00012
|
|
NM_001040142.2(SCN2A):c.2919+8G>A
|
rs552318566
|
0.00012
|
|
NM_001040142.2(SCN2A):c.4823-15G>A
|
rs375524288
|
0.00012
|
|
NM_001040142.2(SCN2A):c.5364G>A (p.Glu1788=)
|
rs199925238
|
0.00012
|
|
NM_001040142.2(SCN2A):c.5121G>A (p.Leu1707=)
|
rs377063535
|
0.00011
|
|
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys)
|
rs139899756
|
0.00011
|
|
NM_001040142.2(SCN2A):c.5931T>C (p.Ser1977=)
|
rs187728892
|
0.00011
|
|
NM_001040142.2(SCN2A):c.1759A>C (p.Ile587Leu)
|
rs148275498
|
0.00010
|
|
NM_001040142.2(SCN2A):c.24G>A (p.Pro8=)
|
rs149534277
|
0.00010
|
|
NM_001040142.2(SCN2A):c.2562+5A>G
|
rs374738441
|
0.00010
|
|
NM_001040142.2(SCN2A):c.3123G>A (p.Pro1041=)
|
rs147576541
|
0.00010
|
|
NM_001040142.2(SCN2A):c.4989C>T (p.Ile1663=)
|
rs373347369
|
0.00010
|
|
NM_001040142.2(SCN2A):c.5850C>T (p.Leu1950=)
|
rs147055283
|
0.00010
|
|
NM_001040142.2(SCN2A):c.1306T>C (p.Leu436=)
|
rs376323449
|
0.00009
|
|
NM_001040142.2(SCN2A):c.3579C>A (p.Leu1193=)
|
rs367546924
|
0.00009
|
|
NM_001040142.2(SCN2A):c.4110C>T (p.Thr1370=)
|
rs148868382
|
0.00009
|
|
NM_001040142.2(SCN2A):c.4552-16A>T
|
rs555368941
|
0.00009
|
|
NM_001040142.2(SCN2A):c.5208T>G (p.Asp1736Glu)
|
rs200016923
|
0.00009
|
|
NM_001040142.2(SCN2A):c.5541G>A (p.Val1847=)
|
rs371704720
|
0.00009
|
|
NM_001040142.2(SCN2A):c.1384-10G>A
|
rs752259362
|
0.00008
|
|
NM_001040142.2(SCN2A):c.1384-4C>G
|
rs113191507
|
0.00008
|
|
NM_001040142.2(SCN2A):c.1725G>A (p.Ala575=)
|
rs543538780
|
0.00008
|
|
NM_001040142.2(SCN2A):c.2292C>T (p.Ala764=)
|
rs760963593
|
0.00008
|
|
NM_001040142.2(SCN2A):c.3372C>T (p.Ser1124=)
|
rs571408286
|
0.00008
|
|
NM_001040142.2(SCN2A):c.5568C>T (p.Asp1856=)
|
rs144058186
|
0.00008
|
|
NM_001040142.2(SCN2A):c.5574A>G (p.Leu1858=)
|
rs767592553
|
0.00008
|
|
NM_001040142.2(SCN2A):c.*1000G>T
|
rs886055003
|
0.00007
|
|
NM_001040142.2(SCN2A):c.3521-12C>T
|
rs370419172
|
0.00007
|
|
NM_001040142.2(SCN2A):c.5836_5838del (p.Lys1946del)
|
rs770838929
|
0.00007
|
|
NM_001040142.2(SCN2A):c.1959G>A (p.Val653=)
|
rs200546427
|
0.00006
|
|
NM_001040142.2(SCN2A):c.1976G>A (p.Gly659Asp)
|
rs368887417
|
0.00006
|
|
NM_001040142.2(SCN2A):c.3015T>C (p.Ile1005=)
|
rs758652224
|
0.00006
|
|
NM_001040142.2(SCN2A):c.3330A>C (p.Gly1110=)
|
rs138143967
|
0.00006
|
|
NM_001040142.2(SCN2A):c.3456C>T (p.Ala1152=)
|
rs144325450
|
0.00006
|
|
NM_001040142.2(SCN2A):c.3485A>T (p.Glu1162Val)
|
rs201124054
|
0.00006
|
|
NM_001040142.2(SCN2A):c.3529C>T (p.Arg1177Trp)
|
rs115231482
|
0.00006
|
|
NM_001040142.2(SCN2A):c.4221C>T (p.Asn1407=)
|
rs747792907
|
0.00006
|
|
NM_001040142.2(SCN2A):c.5817A>G (p.Glu1939=)
|
rs780514937
|
0.00006
|
|
NM_001040142.2(SCN2A):c.*1622T>C
|
rs554984144
|
0.00005
|
|
NM_001040142.2(SCN2A):c.1177-16C>G
|
rs553983883
|
0.00005
|
|
NM_001040142.2(SCN2A):c.2661A>G (p.Val887=)
|
rs749540280
|
0.00005
|
|
NM_001040142.2(SCN2A):c.5043T>C (p.Asn1681=)
|
rs770118417
|
0.00005
|
|
NM_001040142.2(SCN2A):c.5217A>C (p.Gly1739=)
|
rs2227899
|
0.00005
|
|
NM_001040142.2(SCN2A):c.5704C>T (p.Arg1902Cys)
|
rs367833365
|
0.00005
|
|
NM_001040142.2(SCN2A):c.789G>A (p.Ala263=)
|
rs775625143
|
0.00005
|
|
NM_001040142.2(SCN2A):c.915T>A (p.Thr305=)
|
rs1193774137
|
0.00005
|
|
NM_145239.3(PRRT2):c.773G>A (p.Gly258Glu)
|
rs560303559
|
0.00005
|
|
NM_001040142.2(SCN2A):c.*1264A>G
|
rs951534441
|
0.00004
|
|
NM_001040142.2(SCN2A):c.1386G>A (p.Ala462=)
|
rs145912536
|
0.00004
|
|
NM_001040142.2(SCN2A):c.1399G>A (p.Ala467Thr)
|
rs745774658
|
0.00004
|
|
NM_001040142.2(SCN2A):c.1527A>G (p.Lys509=)
|
rs150087890
|
0.00004
|
|
NM_001040142.2(SCN2A):c.1536A>G (p.Glu512=)
|
rs201680546
|
0.00004
|
|
NM_001040142.2(SCN2A):c.1571G>A (p.Arg524Gln)
|
rs186154973
|
0.00004
|
|
NM_001040142.2(SCN2A):c.1605A>G (p.Lys535=)
|
rs367647572
|
0.00004
|
|
NM_001040142.2(SCN2A):c.1621T>C (p.Leu541=)
|
rs763631456
|
0.00004
|
|
NM_001040142.2(SCN2A):c.1841C>T (p.Pro614Leu)
|
rs143734912
|
0.00004
|
|
NM_001040142.2(SCN2A):c.1939G>A (p.Ala647Thr)
|
rs548056312
|
0.00004
|
|
NM_001040142.2(SCN2A):c.1953T>C (p.Asn651=)
|
rs199722574
|
0.00004
|
|
NM_001040142.2(SCN2A):c.2016+3G>A
|
rs752881264
|
0.00004
|
|
NM_001040142.2(SCN2A):c.2019C>G (p.Gly673=)
|
rs587781156
|
0.00004
|
|
NM_001040142.2(SCN2A):c.3213A>C (p.Gly1071=)
|
rs199997352
|
0.00004
|
|
NM_001040142.2(SCN2A):c.3348T>C (p.Asn1116=)
|
rs781717883
|
0.00004
|
|
NM_001040142.2(SCN2A):c.3411A>G (p.Ala1137=)
|
rs112270017
|
0.00004
|
|
NM_001040142.2(SCN2A):c.3676-20T>C
|
rs1057522535
|
0.00004
|
|
NM_001040142.2(SCN2A):c.3753C>T (p.Tyr1251=)
|
rs770116598
|
0.00004
|
|
NM_001040142.2(SCN2A):c.4551+10A>G
|
rs767957352
|
0.00004
|
|
NM_001040142.2(SCN2A):c.4552-14A>G
|
rs775130301
|
0.00004
|
|
NM_001040142.2(SCN2A):c.4842G>T (p.Leu1614=)
|
rs148604854
|
0.00004
|
|
NM_001040142.2(SCN2A):c.5022C>T (p.Tyr1674=)
|
rs186157680
|
0.00004
|
|
NM_001040142.2(SCN2A):c.5097C>G (p.Thr1699=)
|
rs950010627
|
0.00004
|
|
NM_001040142.2(SCN2A):c.5367T>C (p.Pro1789=)
|
rs761507234
|
0.00004
|
|
NM_001040142.2(SCN2A):c.5620G>A (p.Ala1874Thr)
|
rs753977894
|
0.00004
|
|
NM_001040142.2(SCN2A):c.5672T>A (p.Val1891Asp)
|
rs758908934
|
0.00004
|
|
NM_001040142.2(SCN2A):c.5705G>A (p.Arg1902His)
|
rs747710683
|
0.00004
|
|
NM_001040142.2(SCN2A):c.605+19T>C
|
rs373120658
|
0.00004
|
|
NM_001040142.2(SCN2A):c.840A>G (p.Gln280=)
|
rs377200041
|
0.00004
|
|
NM_001040142.2(SCN2A):c.*1003G>C
|
rs886055004
|
0.00003
|
|
NM_001040142.2(SCN2A):c.*1433A>G
|
rs886055005
|
0.00003
|
|
NM_001040142.2(SCN2A):c.1095G>A (p.Thr365=)
|
rs2227900
|
0.00003
|
|
NM_001040142.2(SCN2A):c.1200G>A (p.Thr400=)
|
rs532681917
|
0.00003
|
|
NM_001040142.2(SCN2A):c.132G>A (p.Glu44=)
|
rs781272663
|
0.00003
|
|
NM_001040142.2(SCN2A):c.1526A>G (p.Lys509Arg)
|
rs796053201
|
0.00003
|
|
NM_001040142.2(SCN2A):c.1836C>T (p.Phe612=)
|
rs747402663
|
0.00003
|
|
NM_001040142.2(SCN2A):c.1858C>T (p.Arg620Trp)
|
rs762680220
|
0.00003
|
|
NM_001040142.2(SCN2A):c.1992A>G (p.Thr664=)
|
rs368988956
|
0.00003
|
|
NM_001040142.2(SCN2A):c.2017-9T>C
|
rs1451143110
|
0.00003
|
|
NM_001040142.2(SCN2A):c.2023A>G (p.Thr675Ala)
|
rs371601218
|
0.00003
|
|
NM_001040142.2(SCN2A):c.2304C>T (p.Cys768=)
|
rs764479273
|
0.00003
|
|
NM_001040142.2(SCN2A):c.2388+6C>A
|
rs747774131
|
0.00003
|
|
NM_001040142.2(SCN2A):c.2389-17C>T
|
rs1461082035
|
0.00003
|
|
NM_001040142.2(SCN2A):c.2563-4C>A
|
rs561375550
|
0.00003
|
|
NM_001040142.2(SCN2A):c.2673C>T (p.Ile891=)
|
rs529842407
|
0.00003
|
|
NM_001040142.2(SCN2A):c.2706C>G (p.Leu902=)
|
rs192461273
|
0.00003
|
|
NM_001040142.2(SCN2A):c.3065G>A (p.Arg1022His)
|
rs376774884
|
0.00003
|
|
NM_001040142.2(SCN2A):c.3196A>C (p.Asn1066His)
|
rs748876017
|
0.00003
|
|
NM_001040142.2(SCN2A):c.3258C>T (p.Val1086=)
|
rs760647603
|
0.00003
|
|
NM_001040142.2(SCN2A):c.3399+14A>C
|
rs376371059
|
0.00003
|
|
NM_001040142.2(SCN2A):c.3676-9G>T
|
rs767017457
|
0.00003
|
|
NM_001040142.2(SCN2A):c.4260G>T (p.Thr1420=)
|
rs138241682
|
0.00003
|
|
NM_001040142.2(SCN2A):c.5127A>G (p.Gln1709=)
|
rs938025387
|
0.00003
|
|
NM_001040142.2(SCN2A):c.5166T>C (p.Pro1722=)
|
rs760587370
|
0.00003
|
|
NM_001040142.2(SCN2A):c.5760C>T (p.Leu1920=)
|
rs1449263336
|
0.00003
|
|
NM_001040142.2(SCN2A):c.672A>T (p.Ala224=)
|
rs2228986
|
0.00003
|
|
NM_001040142.2(SCN2A):c.837G>A (p.Leu279=)
|
rs776892826
|
0.00003
|
|
NM_145239.3(PRRT2):c.434G>A (p.Arg145Gln)
|
rs200877676
|
0.00003
|
|
NM_145239.3(PRRT2):c.931C>T (p.Arg311Trp)
|
rs760521217
|
0.00003
|
|
NM_001040142.2(SCN2A):c.*690G>A
|
rs1322180654
|
0.00002
|
|
NM_001040142.2(SCN2A):c.-51-1729T>C
|
rs886054998
|
0.00002
|
|
NM_001040142.2(SCN2A):c.1131A>G (p.Leu377=)
|
rs928600496
|
0.00002
|
|
NM_001040142.2(SCN2A):c.1353A>G (p.Glu451=)
|
rs559725593
|
0.00002
|
|
NM_001040142.2(SCN2A):c.1398C>T (p.Ala466=)
|
rs373430899
|
0.00002
|
|
NM_001040142.2(SCN2A):c.1436G>T (p.Gly479Val)
|
rs763114190
|
0.00002
|
|
NM_001040142.2(SCN2A):c.1437G>C (p.Gly479=)
|
rs940572077
|
0.00002
|
|
NM_001040142.2(SCN2A):c.1479G>A (p.Leu493=)
|
rs182457234
|
0.00002
|
|
NM_001040142.2(SCN2A):c.1490G>A (p.Ser497Asn)
|
rs778749930
|
0.00002
|
|
NM_001040142.2(SCN2A):c.1889G>A (p.Arg630His)
|
rs150040573
|
0.00002
|
|
NM_001040142.2(SCN2A):c.2083T>C (p.Leu695=)
|
rs368043574
|
0.00002
|
|
NM_001040142.2(SCN2A):c.2150-9T>C
|
rs979249844
|
0.00002
|
|
NM_001040142.2(SCN2A):c.2175C>T (p.Cys725=)
|
rs768349308
|
0.00002
|
|
NM_001040142.2(SCN2A):c.2219A>G (p.Asp740Gly)
|
rs747869260
|
0.00002
|
|
NM_001040142.2(SCN2A):c.2386C>T (p.Leu796=)
|
rs943031760
|
0.00002
|
|
NM_001040142.2(SCN2A):c.252C>T (p.Tyr84=)
|
rs143065769
|
0.00002
|
|
NM_001040142.2(SCN2A):c.2631T>C (p.Ser877=)
|
rs1292645984
|
0.00002
|
|
NM_001040142.2(SCN2A):c.270G>A (p.Thr90=)
|
rs776081713
|
0.00002
|
|
NM_001040142.2(SCN2A):c.3102A>C (p.Lys1034Asn)
|
rs772956132
|
0.00002
|
|
NM_001040142.2(SCN2A):c.3195C>A (p.Leu1065=)
|
rs150369313
|
0.00002
|
|
NM_001040142.2(SCN2A):c.3259G>A (p.Val1087Met)
|
rs765278777
|
0.00002
|
|
NM_001040142.2(SCN2A):c.3260T>C (p.Val1087Ala)
|
rs1457881200
|
0.00002
|
|
NM_001040142.2(SCN2A):c.3261G>T (p.Val1087=)
|
rs932319701
|
0.00002
|
|
NM_001040142.2(SCN2A):c.3521-15T>C
|
rs886055000
|
0.00002
|
|
NM_001040142.2(SCN2A):c.3521-9A>G
|
rs748099173
|
0.00002
|
|
NM_001040142.2(SCN2A):c.3598A>G (p.Thr1200Ala)
|
rs765909421
|
0.00002
|
|
NM_001040142.2(SCN2A):c.3624T>C (p.Asn1208=)
|
rs552725434
|
0.00002
|
|
NM_001040142.2(SCN2A):c.3675+9T>C
|
rs372657571
|
0.00002
|
|
NM_001040142.2(SCN2A):c.3850-3T>C
|
rs1445707939
|
0.00002
|
|
NM_001040142.2(SCN2A):c.387-6T>C
|
rs1386314410
|
0.00002
|
|
NM_001040142.2(SCN2A):c.4094A>G (p.His1365Arg)
|
rs762800170
|
0.00002
|
|
NM_001040142.2(SCN2A):c.4135G>A (p.Val1379Met)
|
rs779140322
|
0.00002
|
|
NM_001040142.2(SCN2A):c.414G>A (p.Thr138=)
|
rs553026899
|
0.00002
|
|
NM_001040142.2(SCN2A):c.4552-9T>C
|
rs760228082
|
0.00002
|
|
NM_001040142.2(SCN2A):c.4671A>G (p.Gln1557=)
|
rs757986594
|
0.00002
|
|
NM_001040142.2(SCN2A):c.5119C>T (p.Leu1707=)
|
rs2227897
|
0.00002
|
|
NM_001040142.2(SCN2A):c.562C>T (p.Arg188Trp)
|
rs121917748
|
0.00002
|
|
NM_001040142.2(SCN2A):c.5709A>G (p.Lys1903=)
|
rs780697553
|
0.00002
|
|
NM_001040142.2(SCN2A):c.5994A>G (p.Lys1998=)
|
rs745810335
|
0.00002
|
|
NM_001040142.2(SCN2A):c.6004G>A (p.Glu2002Lys)
|
rs780027748
|
0.00002
|
|
NM_001040142.2(SCN2A):c.698-20C>T
|
rs748075978
|
0.00002
|
|
NM_001040142.2(SCN2A):c.901G>A (p.Asp301Asn)
|
rs1432098565
|
0.00002
|
|
NM_001040142.2(SCN2A):c.923A>G (p.Asn308Ser)
|
rs753821498
|
0.00002
|
|
NM_001040142.2(SCN2A):c.9G>A (p.Gln3=)
|
rs1435672829
|
0.00002
|
|
NM_001371246.1(SCN2A):c.687T>C (p.Ser229=)
|
rs746904068
|
0.00002
|
|
NM_001040142.2(SCN2A):c.*1753C>T
|
rs74881341
|
0.00001
|
|
NM_001040142.2(SCN2A):c.*1778A>C
|
rs886055006
|
0.00001
|
|
NM_001040142.2(SCN2A):c.*535A>G
|
rs770662807
|
0.00001
|
|
NM_001040142.2(SCN2A):c.-51-1758A>C
|
rs867379149
|
0.00001
|
|
NM_001040142.2(SCN2A):c.-51-1914C>T
|
rs886054989
|
0.00001
|
|
NM_001040142.2(SCN2A):c.-51-1925G>A
|
rs749326085
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1032A>G (p.Ala344=)
|
rs778228350
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1034+10G>A
|
rs749778303
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1035-15C>G
|
rs761906987
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1038G>A (p.Gln346=)
|
rs1057522529
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1137T>C (p.Arg379=)
|
rs587781154
|
0.00001
|
|
NM_001040142.2(SCN2A):c.115C>A (p.Gln39Lys)
|
rs757194863
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1177-15T>G
|
rs1398497493
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1177-8T>C
|
rs1060504831
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1194G>A (p.Gly398=)
|
rs1436893477
|
0.00001
|
|
NM_001040142.2(SCN2A):c.122G>A (p.Arg41His)
|
rs754993031
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1246C>T (p.Leu416=)
|
rs902180317
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1355A>G (p.Gln452Arg)
|
rs368212942
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1382A>G (p.Gln461Arg)
|
rs780709903
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1383+17T>C
|
rs1226775368
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1383+19C>T
|
rs199744298
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1383+20G>A
|
rs567354567
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1384-8C>T
|
rs755754936
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1441G>A (p.Gly481Arg)
|
rs369488860
|
0.00001
|
|
NM_001040142.2(SCN2A):c.145G>A (p.Gly49Ser)
|
rs773605666
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1473T>G (p.Ser491=)
|
rs1427996432
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1484C>A (p.Ser495Tyr)
|
rs140661535
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1542T>C (p.Ser514=)
|
rs780072216
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1558A>T (p.Asn520Tyr)
|
rs746957483
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1577C>T (p.Ser526Leu)
|
rs749504084
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1578G>A (p.Ser526=)
|
rs141269163
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1598G>A (p.Arg533Lys)
|
rs1057520163
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1612C>T (p.Arg538Cys)
|
rs775923587
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1613G>A (p.Arg538His)
|
rs761203730
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1623G>A (p.Leu541=)
|
rs753341735
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1661C>T (p.Ser554Phe)
|
rs764865753
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1672-3T>C
|
rs769105267
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1711C>T (p.Arg571Cys)
|
rs750049844
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1724C>T (p.Ala575Val)
|
rs986167267
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1747C>G (p.Arg583Gly)
|
rs1553571901
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1748G>A (p.Arg583Gln)
|
rs1158928024
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1755G>C (p.Lys585Asn)
|
rs370685828
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1837G>A (p.Val613Met)
|
rs769069833
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1846A>G (p.Arg616Gly)
|
rs772896106
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1866C>T (p.His622=)
|
rs377388875
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1901T>C (p.Val634Ala)
|
rs756119996
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1904T>C (p.Leu635Pro)
|
rs558887330
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1923T>C (p.Asn641=)
|
rs780183614
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1938C>T (p.Ser646=)
|
rs528391611
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1945G>A (p.Asp649Asn)
|
rs1698173114
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1965C>T (p.Ser655=)
|
rs914170392
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1969G>A (p.Val657Ile)
|
rs770573856
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1971C>T (p.Val657=)
|
rs149230197
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1986C>T (p.Thr662=)
|
rs530608927
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2001G>C (p.Gly667=)
|
rs1323805020
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2016+10A>G
|
rs886042771
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2016+5G>A
|
rs756399627
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2017-6T>C
|
rs761771724
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2021C>A (p.Thr674Lys)
|
rs1698384021
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2043A>G (p.Arg681=)
|
rs1384019842
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2046G>T (p.Lys682Asn)
|
rs756493732
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2051G>A (p.Arg684Gln)
|
rs146949852
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2074A>G (p.Met692Val)
|
rs771488290
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2143A>G (p.Met715Val)
|
rs1490648646
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2149+16T>C
|
rs767512295
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2149+18C>T
|
rs770481092
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2149+3A>C
|
rs1474808070
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2204T>A (p.Met735Lys)
|
rs924845392
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2258A>G (p.Asn753Ser)
|
rs772159401
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2278T>A (p.Phe760Ile)
|
rs775759603
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2367T>C (p.Ser789=)
|
rs1181917414
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2388+11C>G
|
rs866295388
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2388+12T>C
|
rs749226972
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2389-6A>G
|
rs1370290520
|
0.00001
|
|
NM_001040142.2(SCN2A):c.23C>T (p.Pro8Leu)
|
rs747139785
|
0.00001
|
|
NM_001040142.2(SCN2A):c.240T>C (p.Asp80=)
|
rs1327484226
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2499T>C (p.Leu833=)
|
rs1699364670
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2518T>C (p.Leu840=)
|
rs768817318
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2541A>T (p.Ser847=)
|
rs776618474
|
0.00001
|
|
NM_001040142.2(SCN2A):c.255T>C (p.Tyr85=)
|
rs199657941
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2598T>G (p.Thr866=)
|
rs1306050789
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2643A>G (p.Leu881=)
|
rs777805952
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2695G>A (p.Gly899Ser)
|
rs796053120
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2747A>G (p.Asn916Ser)
|
rs763684457
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2759T>A (p.Leu920His)
|
rs761599392
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2766C>T (p.Arg922=)
|
rs202006528
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2799G>A (p.Leu933=)
|
rs759837838
|
0.00001
|
|
NM_001040142.2(SCN2A):c.27A>T (p.Pro9=)
|
rs1191664110
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2802C>T (p.Ile934=)
|
rs758408742
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2811C>T (p.Arg937=)
|
rs779791354
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2859C>T (p.Val953=)
|
rs139967593
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2919+16A>G
|
rs1343240110
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2919+4T>C
|
rs182428124
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3048T>C (p.Phe1016=)
|
rs1231094286
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3049G>C (p.Val1017Leu)
|
rs769267899
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3084C>T (p.Ala1028=)
|
rs1700076171
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3107T>C (p.Leu1036Ser)
|
rs774256116
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3130G>T (p.Asp1044Tyr)
|
rs1197983141
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3133C>T (p.Leu1045=)
|
rs369128399
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3157A>G (p.Ile1053Val)
|
rs1054419020
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3176T>C (p.Ile1059Thr)
|
rs755305829
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3177A>G (p.Ile1059Met)
|
rs960821024
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3190G>T (p.Asp1064Tyr)
|
rs769395683
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3210C>T (p.Asp1070=)
|
rs187731029
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3306T>G (p.Thr1102=)
|
rs1246050360
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3318A>G (p.Pro1106=)
|
rs751746800
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3356C>T (p.Thr1119Ile)
|
rs756738916
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3389A>C (p.Glu1130Ala)
|
rs1160491617
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3400-7T>C
|
rs1469952990
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3434C>T (p.Thr1145Met)
|
rs796053128
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3435G>A (p.Thr1145=)
|
rs1345931602
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3454G>A (p.Ala1152Thr)
|
rs766523968
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3461G>A (p.Gly1154Glu)
|
rs995379212
|
0.00001
|
|
NM_001040142.2(SCN2A):c.347A>G (p.Asn116Ser)
|
rs1173773190
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3530G>A (p.Arg1177Gln)
|
rs773202451
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3549G>A (p.Gln1183=)
|
rs1402203523
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3556A>G (p.Ile1186Val)
|
rs1433862850
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3561A>G (p.Glu1187=)
|
rs1388551340
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3570A>G (p.Lys1190=)
|
rs765597357
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3586A>G (p.Asn1196Asp)
|
rs796053199
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3623A>G (p.Asn1208Ser)
|
rs781032326
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3630C>T (p.Phe1210=)
|
rs371422797
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3638T>G (p.Phe1213Cys)
|
rs1700783513
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3670G>T (p.Ala1224Ser)
|
rs780330020
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3675+7G>T
|
rs369008860
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3689T>C (p.Ile1230Thr)
|
rs777751518
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3693C>T (p.Tyr1231=)
|
rs1559395351
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3706A>G (p.Lys1236Glu)
|
rs1229209018
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3721A>G (p.Met1241Val)
|
rs1334797843
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3735T>C (p.Ala1245=)
|
rs527970192
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3789A>G (p.Ala1263=)
|
rs771357111
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3803T>A (p.Val1268Glu)
|
rs774849906
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3850-9T>C
|
rs1273545144
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3855A>C (p.Ser1285=)
|
rs746426337
|
0.00001
|
|
NM_001040142.2(SCN2A):c.386+3535C>A
|
rs891087983
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3870T>A (p.Thr1290=)
|
rs1225687118
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3971G>A (p.Arg1324Lys)
|
rs761654525
|
0.00001
|
|
NM_001040142.2(SCN2A):c.4056T>C (p.Ser1352=)
|
rs764921287
|
0.00001
|
|
NM_001040142.2(SCN2A):c.4121T>A (p.Met1374Lys)
|
rs555250264
|
0.00001
|
|
NM_001040142.2(SCN2A):c.4129G>T (p.Val1377Leu)
|
rs1407740477
|
0.00001
|
|
NM_001040142.2(SCN2A):c.4134C>T (p.Ser1378=)
|
rs145465905
|
0.00001
|
|
NM_001040142.2(SCN2A):c.4414A>G (p.Ile1472Val)
|
rs368657915
|
0.00001
|
|
NM_001040142.2(SCN2A):c.4551+11C>T
|
rs1292269804
|
0.00001
|
|
NM_001040142.2(SCN2A):c.4566A>C (p.Gly1522=)
|
rs1309014295
|
0.00001
|
|
NM_001040142.2(SCN2A):c.4656C>T (p.Thr1552=)
|
rs765041838
|
0.00001
|
|
NM_001040142.2(SCN2A):c.4715T>C (p.Val1572Ala)
|
rs1701903914
|
0.00001
|
|
NM_001040142.2(SCN2A):c.477-13T>C
|
rs973711914
|
0.00001
|
|
NM_001040142.2(SCN2A):c.4775T>C (p.Ile1592Thr)
|
rs199641159
|
0.00001
|
|
NM_001040142.2(SCN2A):c.4818T>C (p.Ile1606=)
|
rs771160474
|
0.00001
|
|
NM_001040142.2(SCN2A):c.4836T>G (p.Ala1612=)
|
rs144133411
|
0.00001
|
|
NM_001040142.2(SCN2A):c.4977G>A (p.Ala1659=)
|
rs1250394077
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5007G>A (p.Leu1669=)
|
rs1423260538
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5023G>A (p.Ala1675Thr)
|
rs1469322698
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5026A>G (p.Ile1676Val)
|
rs755159786
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5175T>C (p.Asn1725=)
|
rs1428775007
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5289C>T (p.Ser1763=)
|
rs1381791914
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5316C>T (p.Ile1772=)
|
rs946785343
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5319G>A (p.Ala1773=)
|
rs373913233
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5412G>T (p.Lys1804Asn)
|
rs759697991
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5421C>G (p.Pro1807=)
|
rs1457454456
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5427G>A (p.Ala1809=)
|
rs1177406324
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5487T>C (p.Leu1829=)
|
rs1188907234
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5520T>A (p.Ile1840=)
|
rs1279372118
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5544T>C (p.Ser1848=)
|
rs761713186
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5580T>G (p.Ala1860=)
|
rs752845880
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5589G>C (p.Lys1863Asn)
|
rs760733246
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5625T>G (p.Leu1875=)
|
rs374716270
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5658A>C (p.Ser1886=)
|
rs902710874
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5691G>A (p.Thr1897=)
|
rs780700291
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5697G>A (p.Thr1899=)
|
rs746574956
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5726C>T (p.Ala1909Val)
|
rs772819993
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5733T>C (p.Ile1911=)
|
rs376740497
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5736C>T (p.Ile1912=)
|
rs1324754723
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5761T>C (p.Leu1921=)
|
rs776934629
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5773G>A (p.Val1925Ile)
|
rs145727224
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5788A>G (p.Ser1930Gly)
|
rs886055001
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5791A>G (p.Ile1931Val)
|
rs758820824
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5839G>A (p.Glu1947Lys)
|
rs1464068986
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5889C>T (p.Thr1963=)
|
rs776509462
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5922G>A (p.Ser1974=)
|
rs1260616318
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5999T>C (p.Ile2000Thr)
|
rs1433941543
|
0.00001
|
|
NM_001040142.2(SCN2A):c.599C>G (p.Thr200Ser)
|
rs202234412
|
0.00001
|
|
NM_001040142.2(SCN2A):c.6007A>T (p.Ser2003Cys)
|
rs1389700505
|
0.00001
|
|
NM_001040142.2(SCN2A):c.628C>G (p.Leu210Val)
|
rs764647930
|
0.00001
|
|
NM_001040142.2(SCN2A):c.697+13T>G
|
rs770992144
|
0.00001
|
|
NM_001040142.2(SCN2A):c.697+3G>A
|
rs754960917
|
0.00001
|
|
NM_001040142.2(SCN2A):c.73A>G (p.Ile25Val)
|
rs767145207
|
0.00001
|
|
NM_001040142.2(SCN2A):c.745T>A (p.Ser249Thr)
|
rs1210217208
|
0.00001
|
|
NM_001040142.2(SCN2A):c.783G>C (p.Val261=)
|
rs1250340830
|
0.00001
|
|
NM_001040142.2(SCN2A):c.849A>G (p.Pro283=)
|
rs1697368581
|
0.00001
|
|
NM_001040142.2(SCN2A):c.864T>G (p.Phe288Leu)
|
rs1008008564
|
0.00001
|
|
NM_001040142.2(SCN2A):c.877A>G (p.Thr293Ala)
|
rs1305687130
|
0.00001
|
|
NM_001040142.2(SCN2A):c.892A>G (p.Asn298Asp)
|
rs754706708
|
0.00001
|
|
NM_001040142.2(SCN2A):c.970+6A>T
|
rs371629371
|
0.00001
|
|
NM_001040142.2(SCN2A):c.971-10C>T
|
rs1305298237
|
0.00001
|
|
NM_001040142.2(SCN2A):c.982T>G (p.Phe328Val)
|
rs781204054
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1396G>A (p.Glu466Lys)
|
rs557559740
|
0.00001
|
|
NM_001330260.2(SCN8A):c.2139A>C (p.Glu713Asp)
|
rs1218269439
|
0.00001
|
|
NM_001330260.2(SCN8A):c.235G>A (p.Val79Ile)
|
rs775593096
|
0.00001
|
|
NM_001330260.2(SCN8A):c.3136G>A (p.Ala1046Thr)
|
rs775833241
|
0.00001
|
|
NM_001330260.2(SCN8A):c.3164G>A (p.Arg1055Gln)
|
rs756127631
|
0.00001
|
|
NM_001330260.2(SCN8A):c.457A>C (p.Asn153His)
|
rs796053232
|
0.00001
|
|
NM_001330260.2(SCN8A):c.4634C>T (p.Thr1545Ile)
|
rs759753811
|
0.00001
|
|
NM_001330260.2(SCN8A):c.5479A>G (p.Ile1827Val)
|
rs764115258
|
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.71A>G (p.Asn24Ser)
|
rs769269501
|
0.00001
|
|
NM_145239.3(PRRT2):c.839T>C (p.Met280Thr)
|
rs1419914220
|
0.00001
|
|
NM_145239.3(PRRT2):c.880-34G>A
|
rs1239450803
|
0.00001
|
|
NM_145239.3(PRRT2):c.913G>A (p.Gly305Arg)
|
rs767799831
|
0.00001
|
|
NM_145239.3(PRRT2):c.955G>T (p.Val319Leu)
|
rs945627261
|
0.00001
|
|
NM_145239.3(PRRT2):c.959C>T (p.Ala320Val)
|
rs1301400509
|
0.00001
|
|
NC_000002.11:g.(?_165946640)_(166246354_?)dup
|
|
|
|
NC_000002.11:g.(?_165946660)_(166153665_?)del
|
|
|
|
NC_000002.11:g.(?_165946660)_(166246334_?)dup
|
|
|
|
NC_000002.11:g.(?_165946660)_(167168266_?)del
|
|
|
|
NC_000002.11:g.(?_165984121)_(166246354_?)dup
|
|
|
|
NC_000002.11:g.(?_166152283)_(166246384_?)dup
|
|
|
|
NC_000002.11:g.(?_166198786)_(166201441_?)del
|
|
|
|
NC_000002.11:g.(?_166210682)_(166211201_?)del
|
|
|
|
NC_000002.11:g.(?_166210682)_(167168266_?)del
|
|
|
|
NC_000002.11:g.(?_166210682)_(167168266_?)dup
|
|
|
|
NC_000002.11:g.(?_166210692)_(166226819_?)dup
|
|
|
|
NC_000002.11:g.(?_166226616)_(166226829_?)dup
|
|
|
|
NC_000002.11:g.(?_166229715)_(166237727_?)del
|
|
|
|
NC_000002.11:g.(?_166231283)_(166236819_?)del
|
|
|
|
NC_000002.11:g.(?_166237082)_(166237727_?)dup
|
|
|
|
NC_000002.11:g.(?_166237082)_(166246334_?)del
|
|
|
|
NC_000002.11:g.(?_166237239)_(166239066_?)del
|
|
|
|
NC_000002.11:g.(?_166237246)_(166237713_?)del
|
|
|
|
NC_000002.11:g.(?_166237583)_(166246334_?)del
|
|
|
|
NC_000002.11:g.(?_166237651)_(166240529_?)del
|
|
|
|
NC_000002.12:g.(?_165090130)_(165344931_?)del
|
|
|
|
NC_000002.12:g.(?_165090130)_(166311776_?)del
|
|
|
|
NC_000002.12:g.(?_165090130)_(166311776_?)dup
|
|
|
|
NC_000002.12:g.(?_165295804)_(165389844_?)dup
|
|
|
|
NC_000002.12:g.(?_165342276)_(165389844_?)del
|
|
|
|
NC_000002.12:g.(?_165365123)_(165389844_?)del
|
|
|
|
NC_000012.11:g.52199766_52388207del
|
|
|
|
NC_000016.10:g.(?_29813054)_(29813955_?)del
|
|
|
|
NM_000702.4(ATP1A2):c.2284+44G>A
|
rs1651914525
|
|
|
NM_000702.4(ATP1A2):c.2284+62T>A
|
rs1651915554
|
|
|
NM_001040142.2(SCN2A):c.*1209C>T
|
rs1702103045
|
|
|
NM_001040142.2(SCN2A):c.*1359G>T
|
rs1702107512
|
|
|
NM_001040142.2(SCN2A):c.*1592G>A
|
rs902494496
|
|
|
NM_001040142.2(SCN2A):c.*1825A>G
|
rs886055007
|
|
|
NM_001040142.2(SCN2A):c.*2454C>T
|
rs886055008
|
|
|
NM_001040142.2(SCN2A):c.*264C>T
|
rs1702070313
|
|
|
NM_001040142.2(SCN2A):c.*291G>T
|
rs886055002
|
|
|
NM_001040142.2(SCN2A):c.*437G>A
|
rs553239308
|
|
|
NM_001040142.2(SCN2A):c.*47G>A
|
rs377384458
|
|
|
NM_001040142.2(SCN2A):c.*47G>T
|
rs377384458
|
|
|
NM_001040142.2(SCN2A):c.*535A>T
|
rs770662807
|
|
|
NM_001040142.2(SCN2A):c.*987A>G
|
rs958016137
|
|
|
NM_001040142.2(SCN2A):c.-42A>C
|
rs755901960
|
|
|
NM_001040142.2(SCN2A):c.-51-1652A>G
|
rs886054999
|
|
|
NM_001040142.2(SCN2A):c.-51-1720dup
|
rs1553563950
|
|
|
NM_001040142.2(SCN2A):c.-51-1721_-51-1720dup
|
rs1553563950
|
|
|
NM_001040142.2(SCN2A):c.-51-1733A>T
|
rs76193610
|
|
|
NM_001040142.2(SCN2A):c.-51-1733_-51-1732dup
|
rs886054996
|
|
|
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAA
|
rs1553563951
|
|
|
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAAAT
|
rs780674346
|
|
|
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAAT
|
rs780674346
|
|
|
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAATT
|
rs780674346
|
|
|
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAATTT
|
rs780674346
|
|
|
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAGATT
|
rs780674346
|
|
|
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insGAT
|
rs780674346
|
|
|
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insGATT
|
rs780674346
|
|
|
NM_001040142.2(SCN2A):c.-51-1734G>A
|
rs886054990
|
|
|
NM_001040142.2(SCN2A):c.-51-1734_-51-1733del
|
rs1553563943
|
|
|
NM_001040142.2(SCN2A):c.-51-1735_-51-1733del
|
rs886054992
|
|
|
NM_001040142.2(SCN2A):c.-51-1735del
|
rs67417831
|
|
|
NM_001040142.2(SCN2A):c.-51-1736_-51-1735del
|
rs67417831
|
|
|
NM_001040142.2(SCN2A):c.-51-1736_-51-1735dup
|
rs67417831
|
|
|
NM_001040142.2(SCN2A):c.-51-1737_-51-1735dup
|
rs67417831
|
|
|
NM_001040142.2(SCN2A):c.1005T>C (p.Ala335=)
|
|
|
|
NM_001040142.2(SCN2A):c.1019dup (p.Asn340fs)
|
rs1697464755
|
|
|
NM_001040142.2(SCN2A):c.1028A>G (p.Asp343Gly)
|
rs1057524164
|
|
|
NM_001040142.2(SCN2A):c.1030del (p.Ala344fs)
|
|
|
|
NM_001040142.2(SCN2A):c.1034+15C>T
|
|
|
|
NM_001040142.2(SCN2A):c.1034+3A>G
|
|
|
|
NM_001040142.2(SCN2A):c.1034+4A>G
|
rs1697466247
|
|
|
NM_001040142.2(SCN2A):c.1034G>T (p.Gly345Val)
|
|
|
|
NM_001040142.2(SCN2A):c.1035-13A>G
|
|
|
|
NM_001040142.2(SCN2A):c.1039T>C (p.Cys347Arg)
|
|
|
|
NM_001040142.2(SCN2A):c.1046A>C (p.Glu349Ala)
|
rs1574566659
|
|
|
NM_001040142.2(SCN2A):c.1050A>T (p.Gly350=)
|
rs1284650444
|
|
|
NM_001040142.2(SCN2A):c.1053C>T (p.Tyr351=)
|
rs1574566686
|
|
|
NM_001040142.2(SCN2A):c.106A>G (p.Arg36Gly)
|
rs796053167
|
|
|
NM_001040142.2(SCN2A):c.1071T>G (p.Gly357=)
|
rs779499394
|
|
|
NM_001040142.2(SCN2A):c.1078C>T (p.Pro360Ser)
|
rs1574566768
|
|
|
NM_001040142.2(SCN2A):c.1086T>A (p.Tyr362Ter)
|
|
|
|
NM_001040142.2(SCN2A):c.108A>G (p.Arg36=)
|
rs2106149149
|
|
|
NM_001040142.2(SCN2A):c.1094C>G (p.Thr365Arg)
|
|
|
|
NM_001040142.2(SCN2A):c.109C>A (p.Pro37Thr)
|
rs763906285
|
|
|
NM_001040142.2(SCN2A):c.1106C>A (p.Thr369Asn)
|
rs1697568342
|
|
|
NM_001040142.2(SCN2A):c.110C>G (p.Pro37Arg)
|
|
|
|
NM_001040142.2(SCN2A):c.110C>T (p.Pro37Leu)
|
|
|
|
NM_001040142.2(SCN2A):c.1113T>C (p.Ser371=)
|
rs1438036303
|
|
|
NM_001040142.2(SCN2A):c.1120T>C (p.Phe374Leu)
|
rs1697569337
|
|
|
NM_001040142.2(SCN2A):c.1129T>A (p.Leu377Ile)
|
rs1697569806
|
|
|
NM_001040142.2(SCN2A):c.1135C>T (p.Arg379Cys)
|
|
|
|
NM_001040142.2(SCN2A):c.1147C>G (p.Gln383Glu)
|
rs796053178
|
|
|
NM_001040142.2(SCN2A):c.1147C>T (p.Gln383Ter)
|
rs796053178
|
|
|
NM_001040142.2(SCN2A):c.1148A>T (p.Gln383Leu)
|
rs2105255430
|
|
|
NM_001040142.2(SCN2A):c.1156T>C (p.Trp386Arg)
|
|
|
|
NM_001040142.2(SCN2A):c.1165C>G (p.Leu389Val)
|
|
|
|
NM_001040142.2(SCN2A):c.1166T>A (p.Leu389His)
|
|
|
|
NM_001040142.2(SCN2A):c.1167T>C (p.Leu389=)
|
rs1186490705
|
|
|
NM_001040142.2(SCN2A):c.1174C>T (p.Leu392=)
|
|
|
|
NM_001040142.2(SCN2A):c.1176+11A>T
|
|
|
|
NM_001040142.2(SCN2A):c.1176+12T>C
|
|
|
|
NM_001040142.2(SCN2A):c.1176+13A>T
|
|
|
|
NM_001040142.2(SCN2A):c.1177-16C>T
|
|
|
|
NM_001040142.2(SCN2A):c.1177-3C>G
|
|
|
|
NM_001040142.2(SCN2A):c.1177-6T>A
|
rs2105255749
|
|
|
NM_001040142.2(SCN2A):c.1180C>T (p.Leu394=)
|
|
|
|
NM_001040142.2(SCN2A):c.1183C>G (p.Arg395Gly)
|
|
|
|
NM_001040142.2(SCN2A):c.1184G>A (p.Arg395His)
|
|
|
|
NM_001040142.2(SCN2A):c.1186G>A (p.Ala396Thr)
|
|
|
|
NM_001040142.2(SCN2A):c.118G>A (p.Glu40Lys)
|
rs1553564192
|
|
|
NM_001040142.2(SCN2A):c.1198A>G (p.Thr400Ala)
|
|
|
|
NM_001040142.2(SCN2A):c.1198dup (p.Thr400fs)
|
rs1553568927
|
|
|
NM_001040142.2(SCN2A):c.1199C>G (p.Thr400Arg)
|
|
|
|
NM_001040142.2(SCN2A):c.1199C>T (p.Thr400Met)
|
|
|
|
NM_001040142.2(SCN2A):c.1200G>T (p.Thr400=)
|
rs532681917
|
|
|
NM_001040142.2(SCN2A):c.1206_1208del (p.Met402del)
|
|
|
|
NM_001040142.2(SCN2A):c.1208T>C (p.Ile403Thr)
|
|
|
|
NM_001040142.2(SCN2A):c.1218G>A (p.Val406=)
|
|
|
|
NM_001040142.2(SCN2A):c.1219C>A (p.Leu407Met)
|
|
|
|
NM_001040142.2(SCN2A):c.121C>T (p.Arg41Cys)
|
rs747086776
|
|
|
NM_001040142.2(SCN2A):c.1221G>A (p.Leu407=)
|
|
|
|
NM_001040142.2(SCN2A):c.1224C>A (p.Val408=)
|
|
|
|
NM_001040142.2(SCN2A):c.1224C>T (p.Val408=)
|
|
|
|
NM_001040142.2(SCN2A):c.1227T>C (p.Ile409=)
|
rs1559355886
|
|
|
NM_001040142.2(SCN2A):c.122G>T (p.Arg41Leu)
|
rs754993031
|
|
|
NM_001040142.2(SCN2A):c.122del (p.Arg41fs)
|
|
|
|
NM_001040142.2(SCN2A):c.1231T>C (p.Leu411=)
|
|
|
|
NM_001040142.2(SCN2A):c.1238C>T (p.Ser413Leu)
|
rs2105255865
|
|
|
NM_001040142.2(SCN2A):c.1242C>G (p.Phe414Leu)
|
rs2105255869
|
|
|
NM_001040142.2(SCN2A):c.1246C>G (p.Leu416Val)
|
|
|
|
NM_001040142.2(SCN2A):c.1249A>G (p.Ile417Val)
|
|
|
|
NM_001040142.2(SCN2A):c.1250T>C (p.Ile417Thr)
|
|
|
|
NM_001040142.2(SCN2A):c.1251A>C (p.Ile417=)
|
rs1290406159
|
|
|
NM_001040142.2(SCN2A):c.1253A>G (p.Asn418Ser)
|
rs1553568970
|
|
|
NM_001040142.2(SCN2A):c.1259T>A (p.Ile420Asn)
|
rs1697584791
|
|
|
NM_001040142.2(SCN2A):c.1263G>A (p.Leu421=)
|
|
|
|
NM_001040142.2(SCN2A):c.1264G>A (p.Ala422Thr)
|
|
|
|
NM_001040142.2(SCN2A):c.1267G>A (p.Val423Met)
|
|
|
|
NM_001040142.2(SCN2A):c.1267G>C (p.Val423Leu)
|
rs796053180
|
|
|
NM_001040142.2(SCN2A):c.1267G>T (p.Val423Leu)
|
rs796053180
|
|
|
NM_001040142.2(SCN2A):c.1270G>A (p.Val424Met)
|
rs1574567728
|
|
|
NM_001040142.2(SCN2A):c.1271T>C (p.Val424Ala)
|
rs796053181
|
|
|
NM_001040142.2(SCN2A):c.1271T>G (p.Val424Gly)
|
rs796053181
|
|
|
NM_001040142.2(SCN2A):c.1280C>T (p.Ala427Val)
|
|
|
|
NM_001040142.2(SCN2A):c.1281C>T (p.Ala427=)
|
rs2105255954
|
|
|
NM_001040142.2(SCN2A):c.1285G>A (p.Glu429Lys)
|
rs1553568987
|
|
|
NM_001040142.2(SCN2A):c.1289A>G (p.Glu430Gly)
|
rs796053183
|
|
|
NM_001040142.2(SCN2A):c.1291C>T (p.Gln431Ter)
|
|
|
|
NM_001040142.2(SCN2A):c.1292A>G (p.Gln431Arg)
|
rs1697588104
|
|
|
NM_001040142.2(SCN2A):c.12A>G (p.Ser4=)
|
|
|
|
NM_001040142.2(SCN2A):c.1300G>A (p.Ala434Thr)
|
rs1553568999
|
|
|
NM_001040142.2(SCN2A):c.1301C>A (p.Ala434Asp)
|
|
|
|
NM_001040142.2(SCN2A):c.1302C>T (p.Ala434=)
|
rs1488671443
|
|
|
NM_001040142.2(SCN2A):c.1305A>G (p.Thr435=)
|
rs1574567854
|
|
|
NM_001040142.2(SCN2A):c.1307T>C (p.Leu436Ser)
|
rs1553569010
|
|
|
NM_001040142.2(SCN2A):c.1312G>A (p.Glu438Lys)
|
rs796053184
|
|
|
NM_001040142.2(SCN2A):c.1312G>C (p.Glu438Gln)
|
rs796053184
|
|
|
NM_001040142.2(SCN2A):c.1314G>C (p.Glu438Asp)
|
rs1697590312
|
|
|
NM_001040142.2(SCN2A):c.1315G>C (p.Ala439Pro)
|
|
|
|
NM_001040142.2(SCN2A):c.1316C>T (p.Ala439Val)
|
|
|
|
NM_001040142.2(SCN2A):c.1326G>A (p.Lys442=)
|
|
|
|
NM_001040142.2(SCN2A):c.1330G>A (p.Ala444Thr)
|
rs765670012
|
|
|
NM_001040142.2(SCN2A):c.1342C>T (p.Gln448Ter)
|
rs1553569054
|
|
|
NM_001040142.2(SCN2A):c.1348C>T (p.Leu450Phe)
|
|
|
|
NM_001040142.2(SCN2A):c.134A>T (p.Asp45Val)
|
rs748331725
|
|
|
NM_001040142.2(SCN2A):c.1350C>T (p.Leu450=)
|
rs750850028
|
|
|
NM_001040142.2(SCN2A):c.1360A>G (p.Lys454Glu)
|
|
|
|
NM_001040142.2(SCN2A):c.1360A>T (p.Lys454Ter)
|
|
|
|
NM_001040142.2(SCN2A):c.1361A>T (p.Lys454Ile)
|
|
|
|
NM_001040142.2(SCN2A):c.1363A>T (p.Lys455Ter)
|
rs1553569087
|
|
|
NM_001040142.2(SCN2A):c.1368A>G (p.Gln456=)
|
|
|
|
NM_001040142.2(SCN2A):c.1370AAG[2] (p.Glu459del)
|
|
|
|
NM_001040142.2(SCN2A):c.1383+7T>C
|
rs2105256264
|
|
|
NM_001040142.2(SCN2A):c.1384-11C>T
|
rs780656967
|
|
|
NM_001040142.2(SCN2A):c.1384-12G>T
|
|
|
|
NM_001040142.2(SCN2A):c.1384-15T>C
|
|
|
|
NM_001040142.2(SCN2A):c.1384-19A>G
|
|
|
|
NM_001040142.2(SCN2A):c.1384-1G>A
|
|
|
|
NM_001040142.2(SCN2A):c.1384-2A>G
|
rs1574571769
|
|
|
NM_001040142.2(SCN2A):c.1384-7C>T
|
rs1283931859
|
|
|
NM_001040142.2(SCN2A):c.1385C>A (p.Ala462Glu)
|
|
|
|
NM_001040142.2(SCN2A):c.1385C>T (p.Ala462Val)
|
rs769825203
|
|
|
NM_001040142.2(SCN2A):c.1387G>A (p.Ala463Thr)
|
|
|
|
NM_001040142.2(SCN2A):c.1388C>T (p.Ala463Val)
|
|
|
|
NM_001040142.2(SCN2A):c.1393G>A (p.Ala465Thr)
|
|
|
|
NM_001040142.2(SCN2A):c.1395_1406dup (p.Ala466_Ala469dup)
|
rs1697689259
|
|
|
NM_001040142.2(SCN2A):c.1396_1401dup (p.Ala466_Ala467dup)
|
rs754615123
|
|
|
NM_001040142.2(SCN2A):c.1398_1400del (p.Ala467del)
|
|
|
|
NM_001040142.2(SCN2A):c.13G>A (p.Val5Met)
|
|
|
|
NM_001040142.2(SCN2A):c.1400C>T (p.Ala467Val)
|
rs2105259518
|
|
|
NM_001040142.2(SCN2A):c.1428T>A (p.Gly476=)
|
|
|
|
NM_001040142.2(SCN2A):c.1429G>A (p.Ala477Thr)
|
rs2105259608
|
|
|
NM_001040142.2(SCN2A):c.1436G>A (p.Gly479Glu)
|
rs763114190
|
|
|
NM_001040142.2(SCN2A):c.1437G>A (p.Gly479=)
|
rs940572077
|
|
|
NM_001040142.2(SCN2A):c.1445T>G (p.Val482Gly)
|
|
|
|
NM_001040142.2(SCN2A):c.1455G>C (p.Glu485Asp)
|
|
|
|
NM_001040142.2(SCN2A):c.1457G>T (p.Ser486Ile)
|
|
|
|
NM_001040142.2(SCN2A):c.1460C>A (p.Ser487Tyr)
|
rs1697697157
|
|
|
NM_001040142.2(SCN2A):c.1460C>T (p.Ser487Phe)
|
rs1697697157
|
|
|
NM_001040142.2(SCN2A):c.1472C>T (p.Ser491Phe)
|
rs1697697928
|
|
|
NM_001040142.2(SCN2A):c.147C>T (p.Gly49=)
|
|
|
|
NM_001040142.2(SCN2A):c.1484C>G (p.Ser495Cys)
|
rs140661535
|
|
|
NM_001040142.2(SCN2A):c.1485C>T (p.Ser495=)
|
rs756904745
|
|
|
NM_001040142.2(SCN2A):c.1486A>T (p.Lys496Ter)
|
|
|
|
NM_001040142.2(SCN2A):c.148C>T (p.Pro50Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.1497del (p.Glu500fs)
|
rs2105259788
|
|
|
NM_001040142.2(SCN2A):c.149C>A (p.Pro50Gln)
|
rs2106149256
|
|
|
NM_001040142.2(SCN2A):c.1508del (p.Asn503fs)
|
|
|
|
NM_001040142.2(SCN2A):c.1508dup (p.Asn503fs)
|
|
|
|
NM_001040142.2(SCN2A):c.1511G>A (p.Arg504Lys)
|
|
|
|
NM_001040142.2(SCN2A):c.1513A>G (p.Arg505Gly)
|
rs1378908186
|
|
|
NM_001040142.2(SCN2A):c.1517A>G (p.Lys506Arg)
|
|
|
|
NM_001040142.2(SCN2A):c.1519A>G (p.Lys507Glu)
|
rs1553569649
|
|
|
NM_001040142.2(SCN2A):c.1519A>T (p.Lys507Ter)
|
|
|
|
NM_001040142.2(SCN2A):c.1524G>A (p.Lys508=)
|
rs2105259852
|
|
|
NM_001040142.2(SCN2A):c.1524G>T (p.Lys508Asn)
|
rs2105259852
|
|
|
NM_001040142.2(SCN2A):c.1530_1531del (p.Lys511fs)
|
rs1697702086
|
|
|
NM_001040142.2(SCN2A):c.1533A>G (p.Lys511=)
|
rs2105259899
|
|
|
NM_001040142.2(SCN2A):c.1533A>T (p.Lys511Asn)
|
|
|
|
NM_001040142.2(SCN2A):c.1533_1536del (p.Lys511fs)
|
rs1553569662
|
|
|
NM_001040142.2(SCN2A):c.1538A>G (p.Gln513Arg)
|
rs905945919
|
|
|
NM_001040142.2(SCN2A):c.1541C>T (p.Ser514Phe)
|
|
|
|
NM_001040142.2(SCN2A):c.1545AGA[2] (p.Glu518del)
|
rs1457091720
|
|
|
NM_001040142.2(SCN2A):c.1561G>C (p.Asp521His)
|
rs1574572514
|
|
|
NM_001040142.2(SCN2A):c.1564A>G (p.Arg522Gly)
|
|
|
|
NM_001040142.2(SCN2A):c.1570C>T (p.Arg524Ter)
|
rs1553569754
|
|
|
NM_001040142.2(SCN2A):c.1589A>G (p.Asp530Gly)
|
|
|
|
NM_001040142.2(SCN2A):c.158A>G (p.Asn53Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.1591A>G (p.Ser531Gly)
|
|
|
|
NM_001040142.2(SCN2A):c.1592G>A (p.Ser531Asn)
|
rs1697706158
|
|
|
NM_001040142.2(SCN2A):c.1594A>G (p.Ile532Val)
|
|
|
|
NM_001040142.2(SCN2A):c.159C>T (p.Asn53=)
|
|
|
|
NM_001040142.2(SCN2A):c.1600A>T (p.Arg534Ter)
|
|
|
|
NM_001040142.2(SCN2A):c.1607G>A (p.Gly536Asp)
|
rs1697707398
|
|
|
NM_001040142.2(SCN2A):c.160A>T (p.Ser54Cys)
|
rs557687080
|
|
|
NM_001040142.2(SCN2A):c.1616T>C (p.Phe539Ser)
|
rs2105260084
|
|
|
NM_001040142.2(SCN2A):c.1629A>G (p.Gly543=)
|
|
|
|
NM_001040142.2(SCN2A):c.163G>A (p.Asp55Asn)
|
|
|
|
NM_001040142.2(SCN2A):c.163G>C (p.Asp55His)
|
|
|
|
NM_001040142.2(SCN2A):c.1641A>G (p.Thr547=)
|
|
|
|
NM_001040142.2(SCN2A):c.1644T>C (p.Tyr548=)
|
|
|
|
NM_001040142.2(SCN2A):c.1654T>C (p.Phe552Leu)
|
rs1186187591
|
|
|
NM_001040142.2(SCN2A):c.1655T>C (p.Phe552Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.1668C>T (p.His556=)
|
rs1574572897
|
|
|
NM_001040142.2(SCN2A):c.1671+14A>T
|
|
|
|
NM_001040142.2(SCN2A):c.1671+19A>G
|
|
|
|
NM_001040142.2(SCN2A):c.1671+5A>C
|
|
|
|
NM_001040142.2(SCN2A):c.1672-13T>C
|
|
|
|
NM_001040142.2(SCN2A):c.1672-13T>G
|
rs1168838956
|
|
|
NM_001040142.2(SCN2A):c.1672-2A>G
|
|
|
|
NM_001040142.2(SCN2A):c.1672-4A>G
|
|
|
|
NM_001040142.2(SCN2A):c.1672-6T>A
|
rs2105276596
|
|
|
NM_001040142.2(SCN2A):c.1672-7T>C
|
rs1553571855
|
|
|
NM_001040142.2(SCN2A):c.1672-8A>T
|
rs761226454
|
|
|
NM_001040142.2(SCN2A):c.1674C>T (p.Ser558=)
|
|
|
|
NM_001040142.2(SCN2A):c.1687C>T (p.Arg563Cys)
|
|
|
|
NM_001040142.2(SCN2A):c.1687del (p.Arg563fs)
|
|
|
|
NM_001040142.2(SCN2A):c.1691G>A (p.Gly564Asp)
|
|
|
|
NM_001040142.2(SCN2A):c.1695C>A (p.Ser565=)
|
rs267598960
|
|
|
NM_001040142.2(SCN2A):c.1708A>G (p.Arg570Gly)
|
|
|
|
NM_001040142.2(SCN2A):c.1721G>A (p.Arg574Lys)
|
|
|
|
NM_001040142.2(SCN2A):c.1725G>C (p.Ala575=)
|
rs543538780
|
|
|
NM_001040142.2(SCN2A):c.1729C>T (p.Leu577Phe)
|
|
|
|
NM_001040142.2(SCN2A):c.1729del (p.Leu577fs)
|
rs2105276746
|
|
|
NM_001040142.2(SCN2A):c.1737C>G (p.Ser579Arg)
|
rs2105276771
|
|
|
NM_001040142.2(SCN2A):c.1738T>C (p.Phe580Leu)
|
|
|
|
NM_001040142.2(SCN2A):c.1741A>G (p.Arg581Gly)
|
|
|
|
NM_001040142.2(SCN2A):c.1747C>T (p.Arg583Ter)
|
rs1553571901
|
|
|
NM_001040142.2(SCN2A):c.1751C>G (p.Ala584Gly)
|
rs1015465660
|
|
|
NM_001040142.2(SCN2A):c.1759A>G (p.Ile587Val)
|
rs148275498
|
|
|
NM_001040142.2(SCN2A):c.1761T>C (p.Ile587=)
|
|
|
|
NM_001040142.2(SCN2A):c.1764C>T (p.Gly588=)
|
rs2105276848
|
|
|
NM_001040142.2(SCN2A):c.1767T>C (p.Ser589=)
|
|
|
|
NM_001040142.2(SCN2A):c.1777T>C (p.Phe593Leu)
|
rs1698165274
|
|
|
NM_001040142.2(SCN2A):c.177A>C (p.Gly59=)
|
rs796053110
|
|
|
NM_001040142.2(SCN2A):c.1786G>C (p.Asp596His)
|
|
|
|
NM_001040142.2(SCN2A):c.179A>G (p.Lys60Arg)
|
rs1696487020
|
|
|
NM_001040142.2(SCN2A):c.1815C>T (p.Asp605=)
|
|
|
|
NM_001040142.2(SCN2A):c.1819C>T (p.Arg607Ter)
|
rs746060762
|
|
|
NM_001040142.2(SCN2A):c.1819_1831del (p.Arg607fs)
|
rs2105276912
|
|
|
NM_001040142.2(SCN2A):c.1820G>A (p.Arg607Gln)
|
rs755003900
|
|
|
NM_001040142.2(SCN2A):c.1827C>A (p.Asp609Glu)
|
|
|
|
NM_001040142.2(SCN2A):c.1831_1832del (p.Leu611fs)
|
rs1698166561
|
|
|
NM_001040142.2(SCN2A):c.1833G>A (p.Leu611=)
|
rs1057522258
|
|
|
NM_001040142.2(SCN2A):c.1838T>C (p.Val613Ala)
|
|
|
|
NM_001040142.2(SCN2A):c.1839G>A (p.Val613=)
|
|
|
|
NM_001040142.2(SCN2A):c.1840C>A (p.Pro614Thr)
|
|
|
|
NM_001040142.2(SCN2A):c.1842G>A (p.Pro614=)
|
rs114315466
|
|
|
NM_001040142.2(SCN2A):c.1861C>A (p.Arg621Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.1861C>T (p.Arg621Cys)
|
rs796053205
|
|
|
NM_001040142.2(SCN2A):c.1871A>G (p.Asn624Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.1879C>T (p.Gln627Ter)
|
|
|
|
NM_001040142.2(SCN2A):c.187C>T (p.Pro63Ser)
|
rs1064797259
|
|
|
NM_001040142.2(SCN2A):c.1881G>A (p.Gln627=)
|
rs1466478648
|
|
|
NM_001040142.2(SCN2A):c.1888C>G (p.Arg630Gly)
|
|
|
|
NM_001040142.2(SCN2A):c.188C>T (p.Pro63Leu)
|
|
|
|
NM_001040142.2(SCN2A):c.1893C>T (p.Ala631=)
|
|
|
|
NM_001040142.2(SCN2A):c.1898G>A (p.Arg633Lys)
|
|
|
|
NM_001040142.2(SCN2A):c.189A>G (p.Pro63=)
|
rs2106149322
|
|
|
NM_001040142.2(SCN2A):c.1901T>A (p.Val634Glu)
|
|
|
|
NM_001040142.2(SCN2A):c.1909A>G (p.Ile637Val)
|
|
|
|
NM_001040142.2(SCN2A):c.1909A>T (p.Ile637Phe)
|
rs758619758
|
|
|
NM_001040142.2(SCN2A):c.1912del (p.Leu638fs)
|
|
|
|
NM_001040142.2(SCN2A):c.1919T>C (p.Met640Thr)
|
rs1559362618
|
|
|
NM_001040142.2(SCN2A):c.1934A>G (p.His645Arg)
|
|
|
|
NM_001040142.2(SCN2A):c.1941T>C (p.Ala647=)
|
|
|
|
NM_001040142.2(SCN2A):c.1956T>C (p.Gly652=)
|
|
|
|
NM_001040142.2(SCN2A):c.1956T>G (p.Gly652=)
|
|
|
|
NM_001040142.2(SCN2A):c.1965C>A (p.Ser655=)
|
rs914170392
|
|
|
NM_001040142.2(SCN2A):c.1966C>T (p.Leu656=)
|
rs748739874
|
|
|
NM_001040142.2(SCN2A):c.1968G>C (p.Leu656=)
|
|
|
|
NM_001040142.2(SCN2A):c.1972G>A (p.Gly658Arg)
|
rs767183298
|
|
|
NM_001040142.2(SCN2A):c.1972G>C (p.Gly658Arg)
|
|
|
|
NM_001040142.2(SCN2A):c.1973G>A (p.Gly658Glu)
|
|
|
|
NM_001040142.2(SCN2A):c.1976G>T (p.Gly659Val)
|
rs368887417
|
|
|
NM_001040142.2(SCN2A):c.1976dup (p.Ser661fs)
|
|
|
|
NM_001040142.2(SCN2A):c.1978C>T (p.Pro660Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.1984A>G (p.Thr662Ala)
|
rs796053111
|
|
|
NM_001040142.2(SCN2A):c.1986C>A (p.Thr662=)
|
rs530608927
|
|
|
NM_001040142.2(SCN2A):c.1987C>G (p.Leu663Val)
|
rs1017711579
|
|
|
NM_001040142.2(SCN2A):c.198T>C (p.Tyr66=)
|
|
|
|
NM_001040142.2(SCN2A):c.1995T>G (p.Ser665=)
|
rs2105277323
|
|
|
NM_001040142.2(SCN2A):c.2005C>T (p.Leu669Phe)
|
rs766470088
|
|
|
NM_001040142.2(SCN2A):c.2009T>G (p.Leu670Arg)
|
rs1698177953
|
|
|
NM_001040142.2(SCN2A):c.2010A>G (p.Leu670=)
|
|
|
|
NM_001040142.2(SCN2A):c.2016+13A>G
|
|
|
|
NM_001040142.2(SCN2A):c.2016+17T>C
|
rs2105277430
|
|
|
NM_001040142.2(SCN2A):c.2016+18T>G
|
|
|
|
NM_001040142.2(SCN2A):c.2016+6G>A
|
|
|
|
NM_001040142.2(SCN2A):c.2016+6G>T
|
rs748611550
|
|
|
NM_001040142.2(SCN2A):c.2017G>C (p.Gly673Arg)
|
rs766339753
|
|
|
NM_001040142.2(SCN2A):c.2020A>G (p.Thr674Ala)
|
rs1360867886
|
|
|
NM_001040142.2(SCN2A):c.2025T>C (p.Thr675=)
|
rs1698384424
|
|
|
NM_001040142.2(SCN2A):c.2033C>G (p.Thr678Arg)
|
rs1446046264
|
|
|
NM_001040142.2(SCN2A):c.2033C>T (p.Thr678Ile)
|
rs1446046264
|
|
|
NM_001040142.2(SCN2A):c.2044A>G (p.Lys682Glu)
|
rs1057520113
|
|
|
NM_001040142.2(SCN2A):c.2049A>G (p.Arg683=)
|
|
|
|
NM_001040142.2(SCN2A):c.2052G>A (p.Arg684=)
|
|
|
|
NM_001040142.2(SCN2A):c.2057G>A (p.Ser686Asn)
|
|
|
|
NM_001040142.2(SCN2A):c.2057G>T (p.Ser686Ile)
|
rs796053190
|
|
|
NM_001040142.2(SCN2A):c.2058T>C (p.Ser686=)
|
rs1334530455
|
|
|
NM_001040142.2(SCN2A):c.2062T>C (p.Tyr688His)
|
|
|
|
NM_001040142.2(SCN2A):c.2066A>C (p.His689Pro)
|
rs778275125
|
|
|
NM_001040142.2(SCN2A):c.2066A>G (p.His689Arg)
|
|
|
|
NM_001040142.2(SCN2A):c.2070T>A (p.Val690=)
|
rs1574600370
|
|
|
NM_001040142.2(SCN2A):c.2072C>T (p.Ser691Phe)
|
|
|
|
NM_001040142.2(SCN2A):c.2075T>C (p.Met692Thr)
|
rs779698884
|
|
|
NM_001040142.2(SCN2A):c.2079T>C (p.Asp693=)
|
rs1553573107
|
|
|
NM_001040142.2(SCN2A):c.2087A>T (p.Glu696Val)
|
|
|
|
NM_001040142.2(SCN2A):c.208C>G (p.Pro70Ala)
|
|
|
|
NM_001040142.2(SCN2A):c.2096C>T (p.Thr699Ile)
|
rs1060503100
|
|
|
NM_001040142.2(SCN2A):c.2102G>A (p.Arg701Lys)
|
|
|
|
NM_001040142.2(SCN2A):c.2103G>A (p.Arg701=)
|
|
|
|
NM_001040142.2(SCN2A):c.2112A>G (p.Ala704=)
|
|
|
|
NM_001040142.2(SCN2A):c.2119A>T (p.Ile707Leu)
|
|
|
|
NM_001040142.2(SCN2A):c.211C>T (p.Pro71Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.2130T>G (p.Ile710Met)
|
rs2105284581
|
|
|
NM_001040142.2(SCN2A):c.2138A>G (p.Asn713Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.213A>T (p.Pro71=)
|
rs1574525422
|
|
|
NM_001040142.2(SCN2A):c.2149+11A>C
|
|
|
|
NM_001040142.2(SCN2A):c.2149+17G>C
|
|
|
|
NM_001040142.2(SCN2A):c.2149+5G>A
|
rs773024189
|
|
|
NM_001040142.2(SCN2A):c.2149+9A>G
|
|
|
|
NM_001040142.2(SCN2A):c.2150-10T>G
|
rs1057523367
|
|
|
NM_001040142.2(SCN2A):c.2150-17A>C
|
|
|
|
NM_001040142.2(SCN2A):c.2150-19C>T
|
|
|
|
NM_001040142.2(SCN2A):c.2150-2A>G
|
rs2105293230
|
|
|
NM_001040142.2(SCN2A):c.2150-8del
|
rs746100466
|
|
|
NM_001040142.2(SCN2A):c.2157A>G (p.Glu719=)
|
rs779574574
|
|
|
NM_001040142.2(SCN2A):c.2164del (p.Arg722fs)
|
|
|
|
NM_001040142.2(SCN2A):c.2167C>A (p.Gln723Lys)
|
rs1553574506
|
|
|
NM_001040142.2(SCN2A):c.2177C>T (p.Pro726Leu)
|
rs867268264
|
|
|
NM_001040142.2(SCN2A):c.2187G>A (p.Trp729Ter)
|
|
|
|
NM_001040142.2(SCN2A):c.218T>C (p.Met73Thr)
|
rs2106149377
|
|
|
NM_001040142.2(SCN2A):c.2190T>A (p.Tyr730Ter)
|
rs2105293298
|
|
|
NM_001040142.2(SCN2A):c.2192A>C (p.Lys731Thr)
|
|
|
|
NM_001040142.2(SCN2A):c.2197G>A (p.Ala733Thr)
|
|
|
|
NM_001040142.2(SCN2A):c.2198C>T (p.Ala733Val)
|
|
|
|
NM_001040142.2(SCN2A):c.2204T>C (p.Met735Thr)
|
rs924845392
|
|
|
NM_001040142.2(SCN2A):c.220G>A (p.Val74Met)
|
rs1553564231
|
|
|
NM_001040142.2(SCN2A):c.2211G>T (p.Leu737Phe)
|
|
|
|
NM_001040142.2(SCN2A):c.2219A>C (p.Asp740Ala)
|
rs747869260
|
|
|
NM_001040142.2(SCN2A):c.2242del (p.Lys747_Val748insTer)
|
|
|
|
NM_001040142.2(SCN2A):c.2266G>A (p.Val756Ile)
|
|
|
|
NM_001040142.2(SCN2A):c.2273A>G (p.Asp758Gly)
|
rs1698669001
|
|
|
NM_001040142.2(SCN2A):c.2277A>G (p.Pro759=)
|
|
|
|
NM_001040142.2(SCN2A):c.2281G>C (p.Val761Leu)
|
rs2105293473
|
|
|
NM_001040142.2(SCN2A):c.2293A>G (p.Ile765Val)
|
|
|
|
NM_001040142.2(SCN2A):c.2299A>G (p.Ile767Val)
|
|
|
|
NM_001040142.2(SCN2A):c.2300T>C (p.Ile767Thr)
|
rs2105293488
|
|
|
NM_001040142.2(SCN2A):c.2305A>G (p.Ile769Val)
|
rs1698670041
|
|
|
NM_001040142.2(SCN2A):c.2320C>T (p.Leu774Phe)
|
rs1458651318
|
|
|
NM_001040142.2(SCN2A):c.2343T>G (p.Tyr781Ter)
|
|
|
|
NM_001040142.2(SCN2A):c.2346C>T (p.Pro782=)
|
rs750905569
|
|
|
NM_001040142.2(SCN2A):c.2351C>T (p.Thr784Met)
|
rs758872788
|
|
|
NM_001040142.2(SCN2A):c.2352G>A (p.Thr784=)
|
rs369101059
|
|
|
NM_001040142.2(SCN2A):c.2357A>G (p.Gln786Arg)
|
rs1698672623
|
|
|
NM_001040142.2(SCN2A):c.235G>C (p.Glu79Gln)
|
rs1402926276
|
|
|
NM_001040142.2(SCN2A):c.2363G>A (p.Ser788Asn)
|
|
|
|
NM_001040142.2(SCN2A):c.2369T>G (p.Val790Gly)
|
|
|
|
NM_001040142.2(SCN2A):c.2377G>A (p.Val793Ile)
|
rs2105293604
|
|
|
NM_001040142.2(SCN2A):c.2385C>T (p.Asn795=)
|
|
|
|
NM_001040142.2(SCN2A):c.2388+12T>A
|
|
|
|
NM_001040142.2(SCN2A):c.2388+20T>G
|
|
|
|
NM_001040142.2(SCN2A):c.2388+5G>A
|
|
|
|
NM_001040142.2(SCN2A):c.2388+8T>C
|
|
|
|
NM_001040142.2(SCN2A):c.2388G>C (p.Leu796=)
|
rs2105293632
|
|
|
NM_001040142.2(SCN2A):c.2389-7C>A
|
|
|
|
NM_001040142.2(SCN2A):c.2389-9C>T
|
|
|
|
NM_001040142.2(SCN2A):c.2389G>T (p.Val797Phe)
|
|
|
|
NM_001040142.2(SCN2A):c.239A>T (p.Asp80Val)
|
|
|
|
NM_001040142.2(SCN2A):c.23C>A (p.Pro8Gln)
|
rs747139785
|
|
|
NM_001040142.2(SCN2A):c.2403C>A (p.Ile801=)
|
rs572550754
|
|
|
NM_001040142.2(SCN2A):c.2406C>T (p.Phe802=)
|
|
|
|
NM_001040142.2(SCN2A):c.2409A>T (p.Thr803=)
|
|
|
|
NM_001040142.2(SCN2A):c.2435C>T (p.Ala812Val)
|
rs1699362667
|
|
|
NM_001040142.2(SCN2A):c.2437A>G (p.Met813Val)
|
|
|
|
NM_001040142.2(SCN2A):c.2447A>T (p.Tyr816Phe)
|
rs2105314804
|
|
|
NM_001040142.2(SCN2A):c.2450A>G (p.Tyr817Cys)
|
|
|
|
NM_001040142.2(SCN2A):c.2451T>C (p.Tyr817=)
|
|
|
|
NM_001040142.2(SCN2A):c.2473_2474del (p.Ile825fs)
|
|
|
|
NM_001040142.2(SCN2A):c.247C>A (p.Pro83Thr)
|
rs1696490964
|
|
|
NM_001040142.2(SCN2A):c.2480A>G (p.Asp827Gly)
|
rs796053112
|
|
|
NM_001040142.2(SCN2A):c.2482G>A (p.Gly828Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.2495G>A (p.Ser832Asn)
|
rs2105314862
|
|
|
NM_001040142.2(SCN2A):c.24G>T (p.Pro8=)
|
|
|
|
NM_001040142.2(SCN2A):c.2506A>T (p.Met836Leu)
|
rs1553578445
|
|
|
NM_001040142.2(SCN2A):c.2508G>A (p.Met836Ile)
|
rs1559375240
|
|
|
NM_001040142.2(SCN2A):c.2512C>A (p.Leu838Ile)
|
|
|
|
NM_001040142.2(SCN2A):c.2513T>C (p.Leu838Pro)
|
|
|
|
NM_001040142.2(SCN2A):c.2517T>G (p.Gly839=)
|
rs745823892
|
|
|
NM_001040142.2(SCN2A):c.2528T>A (p.Val843Glu)
|
rs1574636716
|
|
|
NM_001040142.2(SCN2A):c.2535A>G (p.Gly845=)
|
|
|
|
NM_001040142.2(SCN2A):c.2538G>T (p.Leu846Phe)
|
rs1699366355
|
|
|
NM_001040142.2(SCN2A):c.2539T>C (p.Ser847Pro)
|
rs1699366480
|
|
|
NM_001040142.2(SCN2A):c.2542G>C (p.Val848Leu)
|
|
|
|
NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter)
|
rs1553578503
|
|
|
NM_001040142.2(SCN2A):c.254A>T (p.Tyr85Phe)
|
|
|
|
NM_001040142.2(SCN2A):c.2552C>A (p.Ser851Ter)
|
|
|
|
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln)
|
rs794727152
|
|
|
NM_001040142.2(SCN2A):c.2558G>C (p.Arg853Pro)
|
rs794727152
|
|
|
NM_001040142.2(SCN2A):c.2562+11T>G
|
|
|
|
NM_001040142.2(SCN2A):c.2563-13C>T
|
rs1699472180
|
|
|
NM_001040142.2(SCN2A):c.2563-20G>A
|
|
|
|
NM_001040142.2(SCN2A):c.2563-4C>T
|
|
|
|
NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter)
|
rs1553579225
|
|
|
NM_001040142.2(SCN2A):c.2567G>A (p.Arg856Gln)
|
rs797045942
|
|
|
NM_001040142.2(SCN2A):c.2568A>G (p.Arg856=)
|
|
|
|
NM_001040142.2(SCN2A):c.2574C>T (p.Phe858=)
|
rs748244795
|
|
|
NM_001040142.2(SCN2A):c.2588C>T (p.Ser863Phe)
|
rs1215326426
|
|
|
NM_001040142.2(SCN2A):c.2591G>A (p.Trp864Ter)
|
|
|
|
NM_001040142.2(SCN2A):c.2592G>A (p.Trp864Ter)
|
|
|
|
NM_001040142.2(SCN2A):c.2595A>T (p.Pro865=)
|
|
|
|
NM_001040142.2(SCN2A):c.2598T>C (p.Thr866=)
|
rs1306050789
|
|
|
NM_001040142.2(SCN2A):c.2604T>C (p.Asn868=)
|
|
|
|
NM_001040142.2(SCN2A):c.260A>G (p.Asn87Ser)
|
rs2106149436
|
|
|
NM_001040142.2(SCN2A):c.2616G>A (p.Lys872=)
|
rs1574641438
|
|
|
NM_001040142.2(SCN2A):c.2619C>A (p.Ile873=)
|
rs868404050
|
|
|
NM_001040142.2(SCN2A):c.261T>A (p.Asn87Lys)
|
|
|
|
NM_001040142.2(SCN2A):c.2620A>G (p.Ile874Val)
|
rs1699475919
|
|
|
NM_001040142.2(SCN2A):c.2627A>G (p.Asn876Ser)
|
rs1553579282
|
|
|
NM_001040142.2(SCN2A):c.2634_2635delinsTC (p.Gly879Arg)
|
|
|
|
NM_001040142.2(SCN2A):c.2636G>T (p.Gly879Val)
|
rs1559376694
|
|
|
NM_001040142.2(SCN2A):c.2637G>A (p.Gly879=)
|
|
|
|
NM_001040142.2(SCN2A):c.2637G>T (p.Gly879=)
|
|
|
|
NM_001040142.2(SCN2A):c.2638G>A (p.Ala880Thr)
|
rs1574641522
|
|
|
NM_001040142.2(SCN2A):c.2638G>T (p.Ala880Ser)
|
rs1574641522
|
|
|
NM_001040142.2(SCN2A):c.2638del (p.Ala880fs)
|
|
|
|
NM_001040142.2(SCN2A):c.2641C>T (p.Leu881=)
|
|
|
|
NM_001040142.2(SCN2A):c.2653A>C (p.Thr885Pro)
|
rs2105318789
|
|
|
NM_001040142.2(SCN2A):c.2654C>T (p.Thr885Ile)
|
rs1699477928
|
|
|
NM_001040142.2(SCN2A):c.2656T>A (p.Leu886Met)
|
|
|
|
NM_001040142.2(SCN2A):c.2656T>G (p.Leu886Val)
|
|
|
|
NM_001040142.2(SCN2A):c.2657T>C (p.Leu886Ser)
|
rs796053118
|
|
|
NM_001040142.2(SCN2A):c.2659G>C (p.Val887Leu)
|
rs1574641605
|
|
|
NM_001040142.2(SCN2A):c.2664G>A (p.Leu888=)
|
rs1699478461
|
|
|
NM_001040142.2(SCN2A):c.267+17G>A
|
rs1240522073
|
|
|
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile)
|
rs121917751
|
|
|
NM_001040142.2(SCN2A):c.2674G>T (p.Val892Phe)
|
|
|
|
NM_001040142.2(SCN2A):c.268-16G>A
|
|
|
|
NM_001040142.2(SCN2A):c.268-9C>G
|
|
|
|
NM_001040142.2(SCN2A):c.2680A>C (p.Ile894Leu)
|
rs2105318835
|
|
|
NM_001040142.2(SCN2A):c.2680_2686delinsCTTTTTT (p.Ile894_Ala896delinsLeuPheSer)
|
rs2105318837
|
|
|
NM_001040142.2(SCN2A):c.2681T>C (p.Ile894Thr)
|
rs1699479045
|
|
|
NM_001040142.2(SCN2A):c.2684T>A (p.Phe895Tyr)
|
rs1421192666
|
|
|
NM_001040142.2(SCN2A):c.2686G>T (p.Ala896Ser)
|
rs2105318845
|
|
|
NM_001040142.2(SCN2A):c.2694C>G (p.Val898=)
|
rs1051662437
|
|
|
NM_001040142.2(SCN2A):c.2696G>A (p.Gly899Asp)
|
rs796053121
|
|
|
NM_001040142.2(SCN2A):c.269C>T (p.Thr90Met)
|
|
|
|
NM_001040142.2(SCN2A):c.2711del (p.Gly904fs)
|
|
|
|
NM_001040142.2(SCN2A):c.2713A>G (p.Lys905Glu)
|
rs886043250
|
|
|
NM_001040142.2(SCN2A):c.2725G>A (p.Glu909Lys)
|
rs1553579374
|
|
|
NM_001040142.2(SCN2A):c.2734_2735insTTGTGTCT (p.Cys912fs)
|
rs1699481130
|
|
|
NM_001040142.2(SCN2A):c.2735G>A (p.Cys912Tyr)
|
|
|
|
NM_001040142.2(SCN2A):c.2738A>G (p.Lys913Arg)
|
|
|
|
NM_001040142.2(SCN2A):c.2746A>C (p.Asn916His)
|
|
|
|
NM_001040142.2(SCN2A):c.2749G>A (p.Asp917Asn)
|
|
|
|
NM_001040142.2(SCN2A):c.2751T>C (p.Asp917=)
|
|
|
|
NM_001040142.2(SCN2A):c.2757A>G (p.Glu919=)
|
rs1057520595
|
|
|
NM_001040142.2(SCN2A):c.2767T>C (p.Trp923Arg)
|
rs1057524573
|
|
|
NM_001040142.2(SCN2A):c.276A>G (p.Ile92Met)
|
rs761549438
|
|
|
NM_001040142.2(SCN2A):c.276A>T (p.Ile92=)
|
|
|
|
NM_001040142.2(SCN2A):c.2774T>C (p.Met925Thr)
|
rs1057518373
|
|
|
NM_001040142.2(SCN2A):c.2776C>A (p.His926Asn)
|
|
|
|
NM_001040142.2(SCN2A):c.2776C>G (p.His926Asp)
|
rs765106343
|
|
|
NM_001040142.2(SCN2A):c.277G>A (p.Val93Ile)
|
rs1696548073
|
|
|
NM_001040142.2(SCN2A):c.2783T>G (p.Phe928Cys)
|
|
|
|
NM_001040142.2(SCN2A):c.2786T>C (p.Phe929Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.2787C>T (p.Phe929=)
|
|
|
|
NM_001040142.2(SCN2A):c.2788C>T (p.His930Tyr)
|
rs1699484099
|
|
|
NM_001040142.2(SCN2A):c.2805G>A (p.Val935=)
|
|
|
|
NM_001040142.2(SCN2A):c.2809C>T (p.Arg937Cys)
|
rs796053197
|
|
|
NM_001040142.2(SCN2A):c.2810G>A (p.Arg937His)
|
rs1553579488
|
|
|
NM_001040142.2(SCN2A):c.2821G>A (p.Gly941Arg)
|
|
|
|
NM_001040142.2(SCN2A):c.2826G>A (p.Glu942=)
|
|
|
|
NM_001040142.2(SCN2A):c.2837C>A (p.Thr946Asn)
|
|
|
|
NM_001040142.2(SCN2A):c.2838C>A (p.Thr946=)
|
rs777944503
|
|
|
NM_001040142.2(SCN2A):c.2838C>T (p.Thr946=)
|
|
|
|
NM_001040142.2(SCN2A):c.2854G>T (p.Glu952Ter)
|
rs1553579543
|
|
|
NM_001040142.2(SCN2A):c.2856G>A (p.Glu952=)
|
|
|
|
NM_001040142.2(SCN2A):c.2858T>C (p.Val953Ala)
|
|
|
|
NM_001040142.2(SCN2A):c.2860G>A (p.Ala954Thr)
|
|
|
|
NM_001040142.2(SCN2A):c.2869del (p.Thr957fs)
|
|
|
|
NM_001040142.2(SCN2A):c.2870C>A (p.Thr957Asn)
|
rs2105319167
|
|
|
NM_001040142.2(SCN2A):c.2871del (p.Met958fs)
|
|
|
|
NM_001040142.2(SCN2A):c.2872A>G (p.Met958Val)
|
rs2105319172
|
|
|
NM_001040142.2(SCN2A):c.2874G>T (p.Met958Ile)
|
|
|
|
NM_001040142.2(SCN2A):c.2877C>A (p.Cys959Ter)
|
rs746163041
|
|
|
NM_001040142.2(SCN2A):c.2886C>T (p.Val962=)
|
|
|
|
NM_001040142.2(SCN2A):c.2888T>C (p.Phe963Ser)
|
rs1699488989
|
|
|
NM_001040142.2(SCN2A):c.2890A>T (p.Met964Leu)
|
|
|
|
NM_001040142.2(SCN2A):c.2893_2901del (p.Met965_Met967del)
|
rs2105319200
|
|
|
NM_001040142.2(SCN2A):c.2896G>A (p.Val966Ile)
|
|
|
|
NM_001040142.2(SCN2A):c.2899A>T (p.Met967Leu)
|
|
|
|
NM_001040142.2(SCN2A):c.2902G>T (p.Val968Leu)
|
|
|
|
NM_001040142.2(SCN2A):c.2912A>G (p.Asn971Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.2914C>A (p.Leu972Ile)
|
rs2105319221
|
|
|
NM_001040142.2(SCN2A):c.2916A>G (p.Leu972=)
|
rs1574642369
|
|
|
NM_001040142.2(SCN2A):c.2916_2917delinsTT (p.Val973Leu)
|
rs2105319230
|
|
|
NM_001040142.2(SCN2A):c.2919+10A>G
|
|
|
|
NM_001040142.2(SCN2A):c.2919+15C>T
|
|
|
|
NM_001040142.2(SCN2A):c.2919+16A>T
|
|
|
|
NM_001040142.2(SCN2A):c.2919+7A>G
|
|
|
|
NM_001040142.2(SCN2A):c.2920-1G>A
|
|
|
|
NM_001040142.2(SCN2A):c.2920-4T>G
|
|
|
|
NM_001040142.2(SCN2A):c.2920-7G>A
|
rs1574664160
|
|
|
NM_001040142.2(SCN2A):c.2926A>C (p.Asn976His)
|
|
|
|
NM_001040142.2(SCN2A):c.2928C>A (p.Asn976Lys)
|
rs2105336790
|
|
|
NM_001040142.2(SCN2A):c.2928C>T (p.Asn976=)
|
rs2105336790
|
|
|
NM_001040142.2(SCN2A):c.2934C>A (p.Phe978Leu)
|
|
|
|
NM_001040142.2(SCN2A):c.2936T>C (p.Leu979Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.2936T>G (p.Leu979Trp)
|
rs1553583544
|
|
|
NM_001040142.2(SCN2A):c.2940C>G (p.Ala980=)
|
rs1574664203
|
|
|
NM_001040142.2(SCN2A):c.2943G>A (p.Leu981=)
|
rs2105336814
|
|
|
NM_001040142.2(SCN2A):c.2945T>G (p.Leu982Arg)
|
rs1700069682
|
|
|
NM_001040142.2(SCN2A):c.2948T>G (p.Leu983Trp)
|
rs1553583560
|
|
|
NM_001040142.2(SCN2A):c.2950A>G (p.Ser984Gly)
|
rs1700069881
|
|
|
NM_001040142.2(SCN2A):c.2959A>T (p.Ser987Cys)
|
rs2105336842
|
|
|
NM_001040142.2(SCN2A):c.2969A>G (p.Asn990Ser)
|
rs753985224
|
|
|
NM_001040142.2(SCN2A):c.296C>T (p.Ala99Val)
|
|
|
|
NM_001040142.2(SCN2A):c.2970T>A (p.Asn990Lys)
|
|
|
|
NM_001040142.2(SCN2A):c.2977G>C (p.Ala993Pro)
|
|
|
|
NM_001040142.2(SCN2A):c.2978C>G (p.Ala993Gly)
|
rs2105336862
|
|
|
NM_001040142.2(SCN2A):c.2983G>A (p.Asp995Asn)
|
|
|
|
NM_001040142.2(SCN2A):c.2983GAT[2] (p.Asp997del)
|
rs1700070748
|
|
|
NM_001040142.2(SCN2A):c.2985T>A (p.Asp995Glu)
|
rs1336113495
|
|
|
NM_001040142.2(SCN2A):c.2985T>C (p.Asp995=)
|
rs1336113495
|
|
|
NM_001040142.2(SCN2A):c.2987A>G (p.Asp996Gly)
|
rs1574664322
|
|
|
NM_001040142.2(SCN2A):c.2989G>A (p.Asp997Asn)
|
|
|
|
NM_001040142.2(SCN2A):c.2990A>G (p.Asp997Gly)
|
rs1057523786
|
|
|
NM_001040142.2(SCN2A):c.2991T>C (p.Asp997=)
|
|
|
|
NM_001040142.2(SCN2A):c.2993A>G (p.Asn998Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.2994C>T (p.Asn998=)
|
|
|
|
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys)
|
rs796053126
|
|
|
NM_001040142.2(SCN2A):c.3007C>A (p.Leu1003Ile)
|
rs121917754
|
|
|
NM_001040142.2(SCN2A):c.3012G>T (p.Gln1004His)
|
|
|
|
NM_001040142.2(SCN2A):c.3023G>A (p.Gly1008Glu)
|
rs1131691300
|
|
|
NM_001040142.2(SCN2A):c.3027G>A (p.Arg1009=)
|
|
|
|
NM_001040142.2(SCN2A):c.3029T>C (p.Met1010Thr)
|
|
|
|
NM_001040142.2(SCN2A):c.3036del (p.Gly1013fs)
|
rs1553583659
|
|
|
NM_001040142.2(SCN2A):c.3037G>A (p.Gly1013Arg)
|
|
|
|
NM_001040142.2(SCN2A):c.3039A>G (p.Gly1013=)
|
|
|
|
NM_001040142.2(SCN2A):c.3042C>T (p.Ile1014=)
|
rs370200920
|
|
|
NM_001040142.2(SCN2A):c.3043G>A (p.Asp1015Asn)
|
rs747451714
|
|
|
NM_001040142.2(SCN2A):c.3043G>C (p.Asp1015His)
|
|
|
|
NM_001040142.2(SCN2A):c.3043G>T (p.Asp1015Tyr)
|
rs747451714
|
|
|
NM_001040142.2(SCN2A):c.3048del (p.Phe1016fs)
|
|
|
|
NM_001040142.2(SCN2A):c.304C>T (p.Arg102Ter)
|
rs387906683
|
|
|
NM_001040142.2(SCN2A):c.3052A>G (p.Lys1018Glu)
|
|
|
|
NM_001040142.2(SCN2A):c.3061A>T (p.Ile1021Leu)
|
rs1700074563
|
|
|
NM_001040142.2(SCN2A):c.3064C>T (p.Arg1022Cys)
|
rs980593981
|
|
|
NM_001040142.2(SCN2A):c.3065G>C (p.Arg1022Pro)
|
|
|
|
NM_001040142.2(SCN2A):c.3067G>T (p.Glu1023Ter)
|
rs1397215259
|
|
|
NM_001040142.2(SCN2A):c.3068A>T (p.Glu1023Val)
|
rs1411722259
|
|
|
NM_001040142.2(SCN2A):c.3091A>C (p.Arg1031=)
|
rs1700076343
|
|
|
NM_001040142.2(SCN2A):c.3103G>T (p.Ala1035Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.3104C>G (p.Ala1035Gly)
|
rs766061576
|
|
|
NM_001040142.2(SCN2A):c.3109G>A (p.Asp1037Asn)
|
rs926542477
|
|
|
NM_001040142.2(SCN2A):c.3116T>C (p.Ile1039Thr)
|
rs1700078175
|
|
|
NM_001040142.2(SCN2A):c.3123G>T (p.Pro1041=)
|
rs147576541
|
|
|
NM_001040142.2(SCN2A):c.3154T>C (p.Cys1052Arg)
|
rs2105337207
|
|
|
NM_001040142.2(SCN2A):c.3155G>A (p.Cys1052Tyr)
|
|
|
|
NM_001040142.2(SCN2A):c.315C>T (p.Ala105=)
|
|
|
|
NM_001040142.2(SCN2A):c.3165C>A (p.Asn1055Lys)
|
|
|
|
NM_001040142.2(SCN2A):c.3170C>T (p.Thr1057Ile)
|
|
|
|
NM_001040142.2(SCN2A):c.3179A>T (p.Glu1060Val)
|
|
|
|
NM_001040142.2(SCN2A):c.3182T>C (p.Ile1061Thr)
|
rs781742853
|
|
|
NM_001040142.2(SCN2A):c.3184G>A (p.Gly1062Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.3192C>T (p.Asp1064=)
|
|
|
|
NM_001040142.2(SCN2A):c.3209dup (p.Asp1070fs)
|
rs2105337298
|
|
|
NM_001040142.2(SCN2A):c.3210C>G (p.Asp1070Glu)
|
rs187731029
|
|
|
NM_001040142.2(SCN2A):c.3211G>A (p.Gly1071Arg)
|
rs1553584033
|
|
|
NM_001040142.2(SCN2A):c.3211G>T (p.Gly1071Ter)
|
|
|
|
NM_001040142.2(SCN2A):c.3216T>C (p.Asn1072=)
|
rs1700082579
|
|
|
NM_001040142.2(SCN2A):c.3229G>T (p.Gly1077Cys)
|
|
|
|
NM_001040142.2(SCN2A):c.3231C>A (p.Gly1077=)
|
rs775367520
|
|
|
NM_001040142.2(SCN2A):c.3231C>T (p.Gly1077=)
|
rs775367520
|
|
|
NM_001040142.2(SCN2A):c.3244_3245del (p.Val1082fs)
|
|
|
|
NM_001040142.2(SCN2A):c.3246A>G (p.Val1082=)
|
|
|
|
NM_001040142.2(SCN2A):c.3267A>C (p.Glu1089Asp)
|
|
|
|
NM_001040142.2(SCN2A):c.3274T>C (p.Tyr1092His)
|
|
|
|
NM_001040142.2(SCN2A):c.3275A>T (p.Tyr1092Phe)
|
rs2105337416
|
|
|
NM_001040142.2(SCN2A):c.3297T>C (p.Pro1099=)
|
|
|
|
NM_001040142.2(SCN2A):c.3303C>T (p.Leu1101=)
|
rs1364091068
|
|
|
NM_001040142.2(SCN2A):c.3320T>C (p.Ile1107Thr)
|
|
|
|
NM_001040142.2(SCN2A):c.3325G>C (p.Val1109Leu)
|
|
|
|
NM_001040142.2(SCN2A):c.3333A>T (p.Glu1111Asp)
|
rs2105337534
|
|
|
NM_001040142.2(SCN2A):c.3337G>A (p.Asp1113Asn)
|
|
|
|
NM_001040142.2(SCN2A):c.3340T>C (p.Phe1114Leu)
|
|
|
|
NM_001040142.2(SCN2A):c.3359A>G (p.Glu1120Gly)
|
rs1700088503
|
|
|
NM_001040142.2(SCN2A):c.3370A>T (p.Ser1124Cys)
|
rs777414804
|
|
|
NM_001040142.2(SCN2A):c.3371G>A (p.Ser1124Asn)
|
|
|
|
NM_001040142.2(SCN2A):c.3374del (p.Glu1125fs)
|
rs587780450
|
|
|
NM_001040142.2(SCN2A):c.3382A>G (p.Met1128Val)
|
|
|
|
NM_001040142.2(SCN2A):c.3383T>C (p.Met1128Thr)
|
rs373780066
|
|
|
NM_001040142.2(SCN2A):c.3386A>G (p.Glu1129Gly)
|
rs1423695098
|
|
|
NM_001040142.2(SCN2A):c.3395A>C (p.Lys1132Thr)
|
rs2105337628
|
|
|
NM_001040142.2(SCN2A):c.3399+15A>G
|
|
|
|
NM_001040142.2(SCN2A):c.3399+15_3399+18del
|
|
|
|
NM_001040142.2(SCN2A):c.3399+1del
|
rs2105337639
|
|
|
NM_001040142.2(SCN2A):c.3400-12A>G
|
|
|
|
NM_001040142.2(SCN2A):c.3400-13G>A
|
|
|
|
NM_001040142.2(SCN2A):c.3400-4T>C
|
rs1178159762
|
|
|
NM_001040142.2(SCN2A):c.3400-4dup
|
rs2105355679
|
|
|
NM_001040142.2(SCN2A):c.3403C>G (p.Leu1135Val)
|
|
|
|
NM_001040142.2(SCN2A):c.3408T>G (p.Asn1136Lys)
|
rs890803233
|
|
|
NM_001040142.2(SCN2A):c.3410C>A (p.Ala1137Glu)
|
rs1700657122
|
|
|
NM_001040142.2(SCN2A):c.3410C>G (p.Ala1137Gly)
|
|
|
|
NM_001040142.2(SCN2A):c.3411A>C (p.Ala1137=)
|
|
|
|
NM_001040142.2(SCN2A):c.3413C>G (p.Thr1138Ser)
|
rs2105355734
|
|
|
NM_001040142.2(SCN2A):c.3428G>T (p.Gly1143Val)
|
rs1287436433
|
|
|
NM_001040142.2(SCN2A):c.3432C>T (p.Ser1144=)
|
|
|
|
NM_001040142.2(SCN2A):c.3435G>T (p.Thr1145=)
|
rs1345931602
|
|
|
NM_001040142.2(SCN2A):c.3441T>C (p.Asp1147=)
|
|
|
|
NM_001040142.2(SCN2A):c.3445G>A (p.Gly1149Arg)
|
|
|
|
NM_001040142.2(SCN2A):c.3446G>C (p.Gly1149Ala)
|
|
|
|
NM_001040142.2(SCN2A):c.3447A>G (p.Gly1149=)
|
|
|
|
NM_001040142.2(SCN2A):c.3449C>G (p.Ala1150Gly)
|
rs2105355786
|
|
|
NM_001040142.2(SCN2A):c.3455C>T (p.Ala1152Val)
|
rs2105355801
|
|
|
NM_001040142.2(SCN2A):c.3456C>A (p.Ala1152=)
|
|
|
|
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys)
|
rs200138205
|
|
|
NM_001040142.2(SCN2A):c.3457G>C (p.Glu1153Gln)
|
rs200138205
|
|
|
NM_001040142.2(SCN2A):c.3458A>T (p.Glu1153Val)
|
|
|
|
NM_001040142.2(SCN2A):c.3463G>A (p.Glu1155Lys)
|
|
|
|
NM_001040142.2(SCN2A):c.3469C>G (p.Pro1157Ala)
|
rs2105355838
|
|
|
NM_001040142.2(SCN2A):c.3470C>G (p.Pro1157Arg)
|
rs1553589034
|
|
|
NM_001040142.2(SCN2A):c.3471T>A (p.Pro1157=)
|
|
|
|
NM_001040142.2(SCN2A):c.3474G>A (p.Glu1158=)
|
|
|
|
NM_001040142.2(SCN2A):c.3476T>C (p.Val1159Ala)
|
|
|
|
NM_001040142.2(SCN2A):c.3478G>C (p.Glu1160Gln)
|
rs1553589056
|
|
|
NM_001040142.2(SCN2A):c.3479A>G (p.Glu1160Gly)
|
rs1700660923
|
|
|
NM_001040142.2(SCN2A):c.3480A>G (p.Glu1160=)
|
|
|
|
NM_001040142.2(SCN2A):c.3486G>A (p.Glu1162=)
|
|
|
|
NM_001040142.2(SCN2A):c.3489A>G (p.Glu1163=)
|
|
|
|
NM_001040142.2(SCN2A):c.348C>T (p.Asn116=)
|
|
|
|
NM_001040142.2(SCN2A):c.3494T>A (p.Leu1165His)
|
|
|
|
NM_001040142.2(SCN2A):c.3516A>G (p.Thr1172=)
|
|
|
|
NM_001040142.2(SCN2A):c.3517G>A (p.Glu1173Lys)
|
|
|
|
NM_001040142.2(SCN2A):c.351T>C (p.Pro117=)
|
|
|
|
NM_001040142.2(SCN2A):c.3520+10del
|
rs955426239
|
|
|
NM_001040142.2(SCN2A):c.3520+12A>G
|
|
|
|
NM_001040142.2(SCN2A):c.3520+14T>C
|
|
|
|
NM_001040142.2(SCN2A):c.3520+18A>G
|
|
|
|
NM_001040142.2(SCN2A):c.3520+1G>T
|
|
|
|
NM_001040142.2(SCN2A):c.3520+20A>G
|
|
|
|
NM_001040142.2(SCN2A):c.3521-10C>T
|
|
|
|
NM_001040142.2(SCN2A):c.3521-13C>T
|
|
|
|
NM_001040142.2(SCN2A):c.3521-1G>A
|
|
|
|
NM_001040142.2(SCN2A):c.3527T>C (p.Val1176Ala)
|
|
|
|
NM_001040142.2(SCN2A):c.3530G>C (p.Arg1177Pro)
|
rs773202451
|
|
|
NM_001040142.2(SCN2A):c.3537C>G (p.Phe1179Leu)
|
rs2105359518
|
|
|
NM_001040142.2(SCN2A):c.3542G>T (p.Cys1181Phe)
|
|
|
|
NM_001040142.2(SCN2A):c.3544T>C (p.Cys1182Arg)
|
|
|
|
NM_001040142.2(SCN2A):c.3545G>T (p.Cys1182Phe)
|
rs2105359539
|
|
|
NM_001040142.2(SCN2A):c.3551_3558del (p.Ile1184fs)
|
|
|
|
NM_001040142.2(SCN2A):c.3553A>G (p.Ser1185Gly)
|
rs2105359571
|
|
|
NM_001040142.2(SCN2A):c.3554G>A (p.Ser1185Asn)
|
rs764498057
|
|
|
NM_001040142.2(SCN2A):c.3557T>C (p.Ile1186Thr)
|
|
|
|
NM_001040142.2(SCN2A):c.3558A>G (p.Ile1186Met)
|
rs2105359590
|
|
|
NM_001040142.2(SCN2A):c.3566G>A (p.Gly1189Asp)
|
rs540994733
|
|
|
NM_001040142.2(SCN2A):c.3568A>C (p.Lys1190Gln)
|
rs1553590166
|
|
|
NM_001040142.2(SCN2A):c.3579_3580del (p.Trp1194fs)
|
rs1553590192
|
|
|
NM_001040142.2(SCN2A):c.3582G>A (p.Trp1194Ter)
|
|
|
|
NM_001040142.2(SCN2A):c.3589T>A (p.Leu1197Met)
|
rs2105359679
|
|
|
NM_001040142.2(SCN2A):c.3590T>C (p.Leu1197Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.359A>T (p.Lys120Ile)
|
rs1696551190
|
|
|
NM_001040142.2(SCN2A):c.3600A>G (p.Thr1200=)
|
|
|
|
NM_001040142.2(SCN2A):c.3601T>G (p.Cys1201Gly)
|
|
|
|
NM_001040142.2(SCN2A):c.3615G>T (p.Val1205=)
|
rs1700782112
|
|
|
NM_001040142.2(SCN2A):c.3618G>A (p.Glu1206=)
|
|
|
|
NM_001040142.2(SCN2A):c.361T>G (p.Leu121Val)
|
rs374951365
|
|
|
NM_001040142.2(SCN2A):c.3621C>T (p.His1207=)
|
|
|
|
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys)
|
rs387906684
|
|
|
NM_001040142.2(SCN2A):c.3634A>C (p.Thr1212Pro)
|
rs1700783234
|
|
|
NM_001040142.2(SCN2A):c.3636C>A (p.Thr1212=)
|
|
|
|
NM_001040142.2(SCN2A):c.3637T>G (p.Phe1213Val)
|
rs797044946
|
|
|
NM_001040142.2(SCN2A):c.3649A>C (p.Met1217Leu)
|
|
|
|
NM_001040142.2(SCN2A):c.3657G>A (p.Leu1219=)
|
|
|
|
NM_001040142.2(SCN2A):c.3664A>C (p.Ser1222Arg)
|
rs1574697769
|
|
|
NM_001040142.2(SCN2A):c.3666_3668del (p.Ser1222_Gly1223delinsArg)
|
rs1574697784
|
|
|
NM_001040142.2(SCN2A):c.3670G>A (p.Ala1224Thr)
|
|
|
|
NM_001040142.2(SCN2A):c.3671C>T (p.Ala1224Val)
|
rs2105359828
|
|
|
NM_001040142.2(SCN2A):c.3671_3674dup (p.Ala1226fs)
|
|
|
|
NM_001040142.2(SCN2A):c.3675+13T>C
|
rs2105359866
|
|
|
NM_001040142.2(SCN2A):c.3675+19A>C
|
|
|
|
NM_001040142.2(SCN2A):c.3676-19A>G
|
|
|
|
NM_001040142.2(SCN2A):c.3676-4A>G
|
|
|
|
NM_001040142.2(SCN2A):c.3678C>G (p.Ala1226=)
|
|
|
|
NM_001040142.2(SCN2A):c.367A>G (p.Ile123Val)
|
rs1396703741
|
|
|
NM_001040142.2(SCN2A):c.3690A>T (p.Ile1230=)
|
|
|
|
NM_001040142.2(SCN2A):c.3691T>C (p.Tyr1231His)
|
rs1298081979
|
|
|
NM_001040142.2(SCN2A):c.3694A>G (p.Ile1232Val)
|
|
|
|
NM_001040142.2(SCN2A):c.3696T>C (p.Ile1232=)
|
|
|
|
NM_001040142.2(SCN2A):c.36C>G (p.Asp12Glu)
|
rs1334730213
|
|
|
NM_001040142.2(SCN2A):c.36C>T (p.Asp12=)
|
rs1334730213
|
|
|
NM_001040142.2(SCN2A):c.3702G>A (p.Gln1234=)
|
rs1198199936
|
|
|
NM_001040142.2(SCN2A):c.3707A>G (p.Lys1236Arg)
|
rs2105365136
|
|
|
NM_001040142.2(SCN2A):c.3712A>G (p.Ile1238Val)
|
rs1700951980
|
|
|
NM_001040142.2(SCN2A):c.3719C>T (p.Thr1240Ile)
|
rs2105365169
|
|
|
NM_001040142.2(SCN2A):c.3722T>C (p.Met1241Thr)
|
rs1700952405
|
|
|
NM_001040142.2(SCN2A):c.3732T>C (p.Tyr1244=)
|
|
|
|
NM_001040142.2(SCN2A):c.3733G>A (p.Ala1245Thr)
|
|
|
|
NM_001040142.2(SCN2A):c.3734C>T (p.Ala1245Val)
|
rs768796023
|
|
|
NM_001040142.2(SCN2A):c.3738C>G (p.Asp1246Glu)
|
rs1359219743
|
|
|
NM_001040142.2(SCN2A):c.3754A>G (p.Ile1252Val)
|
|
|
|
NM_001040142.2(SCN2A):c.3760A>T (p.Ile1254Phe)
|
|
|
|
NM_001040142.2(SCN2A):c.3767A>G (p.Glu1256Gly)
|
|
|
|
NM_001040142.2(SCN2A):c.376T>C (p.Leu126=)
|
rs2106151267
|
|
|
NM_001040142.2(SCN2A):c.3775C>T (p.Leu1259=)
|
|
|
|
NM_001040142.2(SCN2A):c.3780G>C (p.Lys1260Asn)
|
rs763442348
|
|
|
NM_001040142.2(SCN2A):c.3780G>T (p.Lys1260Asn)
|
|
|
|
NM_001040142.2(SCN2A):c.3782G>A (p.Trp1261Ter)
|
rs1553591818
|
|
|
NM_001040142.2(SCN2A):c.3793_3795del (p.Gly1265del)
|
rs1700956276
|
|
|
NM_001040142.2(SCN2A):c.3798T>C (p.Phe1266=)
|
|
|
|
NM_001040142.2(SCN2A):c.3802G>C (p.Val1268Leu)
|
rs1700956689
|
|
|
NM_001040142.2(SCN2A):c.3802dup (p.Val1268fs)
|
rs2105365318
|
|
|
NM_001040142.2(SCN2A):c.3810T>C (p.Phe1270=)
|
rs1230638602
|
|
|
NM_001040142.2(SCN2A):c.3811A>G (p.Thr1271Ala)
|
rs1559395577
|
|
|
NM_001040142.2(SCN2A):c.3819C>T (p.Ala1273=)
|
rs2105365337
|
|
|
NM_001040142.2(SCN2A):c.381A>G (p.Val127=)
|
rs2106151272
|
|
|
NM_001040142.2(SCN2A):c.3820T>C (p.Trp1274Arg)
|
rs1700957249
|
|
|
NM_001040142.2(SCN2A):c.3823T>C (p.Cys1275Arg)
|
rs2105365343
|
|
|
NM_001040142.2(SCN2A):c.3831A>G (p.Leu1277=)
|
|
|
|
NM_001040142.2(SCN2A):c.3840G>C (p.Leu1280=)
|
|
|
|
NM_001040142.2(SCN2A):c.3843T>G (p.Ile1281Met)
|
|
|
|
NM_001040142.2(SCN2A):c.3844G>T (p.Val1282Phe)
|
rs1184922927
|
|
|
NM_001040142.2(SCN2A):c.3846T>A (p.Val1282=)
|
|
|
|
NM_001040142.2(SCN2A):c.3849+13del
|
|
|
|
NM_001040142.2(SCN2A):c.3849+15del
|
|
|
|
NM_001040142.2(SCN2A):c.3849+19G>A
|
|
|
|
NM_001040142.2(SCN2A):c.3849+19G>C
|
|
|
|
NM_001040142.2(SCN2A):c.3849+3G>A
|
|
|
|
NM_001040142.2(SCN2A):c.3849+4A>G
|
rs1700958754
|
|
|
NM_001040142.2(SCN2A):c.3849+5G>C
|
|
|
|
NM_001040142.2(SCN2A):c.3849T>A (p.Asp1283Glu)
|
rs752258602
|
|
|
NM_001040142.2(SCN2A):c.3849T>C (p.Asp1283=)
|
|
|
|
NM_001040142.2(SCN2A):c.3850-6G>T
|
|
|
|
NM_001040142.2(SCN2A):c.3859G>A (p.Val1287Ile)
|
|
|
|
NM_001040142.2(SCN2A):c.386+18G>A
|
|
|
|
NM_001040142.2(SCN2A):c.386+1A>C
|
|
|
|
NM_001040142.2(SCN2A):c.3861T>A (p.Val1287=)
|
|
|
|
NM_001040142.2(SCN2A):c.3861T>C (p.Val1287=)
|
|
|
|
NM_001040142.2(SCN2A):c.3861T>G (p.Val1287=)
|
rs1701137260
|
|
|
NM_001040142.2(SCN2A):c.3869C>T (p.Thr1290Ile)
|
rs1701137468
|
|
|
NM_001040142.2(SCN2A):c.387-11C>T
|
|
|
|
NM_001040142.2(SCN2A):c.3870T>C (p.Thr1290=)
|
rs1225687118
|
|
|
NM_001040142.2(SCN2A):c.3874A>G (p.Asn1292Asp)
|
rs2105370639
|
|
|
NM_001040142.2(SCN2A):c.3875A>C (p.Asn1292Thr)
|
rs1701137702
|
|
|
NM_001040142.2(SCN2A):c.3884G>A (p.Gly1295Asp)
|
rs2105370652
|
|
|
NM_001040142.2(SCN2A):c.3900T>A (p.Gly1300=)
|
|
|
|
NM_001040142.2(SCN2A):c.3913dup (p.Leu1305fs)
|
rs1701138696
|
|
|
NM_001040142.2(SCN2A):c.3915del (p.Arg1306fs)
|
|
|
|
NM_001040142.2(SCN2A):c.3922C>A (p.Leu1308Ile)
|
rs2105370702
|
|
|
NM_001040142.2(SCN2A):c.3922C>G (p.Leu1308Val)
|
|
|
|
NM_001040142.2(SCN2A):c.3923T>G (p.Leu1308Arg)
|
|
|
|
NM_001040142.2(SCN2A):c.3926G>T (p.Arg1309Ile)
|
rs1701139719
|
|
|
NM_001040142.2(SCN2A):c.3928G>C (p.Ala1310Pro)
|
rs1701139863
|
|
|
NM_001040142.2(SCN2A):c.3935G>C (p.Arg1312Thr)
|
|
|
|
NM_001040142.2(SCN2A):c.3939A>G (p.Pro1313=)
|
rs1553593075
|
|
|
NM_001040142.2(SCN2A):c.3940C>T (p.Leu1314=)
|
rs1574712123
|
|
|
NM_001040142.2(SCN2A):c.3943A>G (p.Arg1315Gly)
|
rs1553593080
|
|
|
NM_001040142.2(SCN2A):c.3944G>T (p.Arg1315Ile)
|
rs796053129
|
|
|
NM_001040142.2(SCN2A):c.3951G>T (p.Leu1317Phe)
|
rs1574712189
|
|
|
NM_001040142.2(SCN2A):c.3954C>T (p.Ser1318=)
|
rs139507841
|
|
|
NM_001040142.2(SCN2A):c.3955C>T (p.Arg1319Trp)
|
rs190111194
|
|
|
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
|
|
|
|
NM_001040142.2(SCN2A):c.3956G>C (p.Arg1319Pro)
|
|
|
|
NM_001040142.2(SCN2A):c.395A>G (p.Asn132Ser)
|
rs1309536386
|
|
|
NM_001040142.2(SCN2A):c.3961G>C (p.Glu1321Gln)
|
|
|
|
NM_001040142.2(SCN2A):c.3972+9G>A
|
rs1261133567
|
|
|
NM_001040142.2(SCN2A):c.3972+9G>T
|
rs1261133567
|
|
|
NM_001040142.2(SCN2A):c.3973-14T>A
|
|
|
|
NM_001040142.2(SCN2A):c.3973-2A>G
|
rs1701219319
|
|
|
NM_001040142.2(SCN2A):c.3973-7G>T
|
|
|
|
NM_001040142.2(SCN2A):c.3973G>A (p.Val1325Ile)
|
|
|
|
NM_001040142.2(SCN2A):c.3975T>G (p.Val1325=)
|
rs1553593569
|
|
|
NM_001040142.2(SCN2A):c.3977T>C (p.Val1326Ala)
|
|
|
|
NM_001040142.2(SCN2A):c.397A>G (p.Met133Val)
|
|
|
|
NM_001040142.2(SCN2A):c.3981A>G (p.Val1327=)
|
|
|
|
NM_001040142.2(SCN2A):c.3986C>G (p.Ala1329Gly)
|
rs1553593578
|
|
|
NM_001040142.2(SCN2A):c.3988C>T (p.Leu1330Phe)
|
rs121917749
|
|
|
NM_001040142.2(SCN2A):c.398T>G (p.Met133Arg)
|
rs2105241293
|
|
|
NM_001040142.2(SCN2A):c.3997G>A (p.Ala1333Thr)
|
rs796053132
|
|
|
NM_001040142.2(SCN2A):c.3997G>T (p.Ala1333Ser)
|
rs796053132
|
|
|
NM_001040142.2(SCN2A):c.399G>A (p.Met133Ile)
|
|
|
|
NM_001040142.2(SCN2A):c.399G>T (p.Met133Ile)
|
rs2105241303
|
|
|
NM_001040142.2(SCN2A):c.399_400dup (p.Leu134fs)
|
|
|
|
NM_001040142.2(SCN2A):c.3G>A (p.Met1Ile)
|
|
|
|
NM_001040142.2(SCN2A):c.4011C>T (p.Ile1337=)
|
|
|
|
NM_001040142.2(SCN2A):c.4012A>G (p.Met1338Val)
|
|
|
|
NM_001040142.2(SCN2A):c.4021C>G (p.Leu1341Val)
|
|
|
|
NM_001040142.2(SCN2A):c.402C>A (p.Leu134=)
|
|
|
|
NM_001040142.2(SCN2A):c.402C>T (p.Leu134=)
|
|
|
|
NM_001040142.2(SCN2A):c.4036A>G (p.Ile1346Val)
|
rs796053135
|
|
|
NM_001040142.2(SCN2A):c.4037T>A (p.Ile1346Asn)
|
rs1483179196
|
|
|
NM_001040142.2(SCN2A):c.4045C>T (p.Leu1349=)
|
rs946393942
|
|
|
NM_001040142.2(SCN2A):c.405T>C (p.Ile135=)
|
rs1225501159
|
|
|
NM_001040142.2(SCN2A):c.4060A>G (p.Met1354Val)
|
rs1701224136
|
|
|
NM_001040142.2(SCN2A):c.4061T>C (p.Met1354Thr)
|
rs1553593676
|
|
|
NM_001040142.2(SCN2A):c.4069A>T (p.Asn1357Tyr)
|
rs2105373101
|
|
|
NM_001040142.2(SCN2A):c.407T>A (p.Met136Lys)
|
|
|
|
NM_001040142.2(SCN2A):c.407T>G (p.Met136Arg)
|
|
|
|
NM_001040142.2(SCN2A):c.408G>A (p.Met136Ile)
|
rs1697221269
|
|
|
NM_001040142.2(SCN2A):c.4118A>G (p.Glu1373Gly)
|
rs918734456
|
|
|
NM_001040142.2(SCN2A):c.411C>T (p.Cys137=)
|
rs1253966876
|
|
|
NM_001040142.2(SCN2A):c.4121T>C (p.Met1374Thr)
|
|
|
|
NM_001040142.2(SCN2A):c.4123T>G (p.Phe1375Val)
|
rs1308555812
|
|
|
NM_001040142.2(SCN2A):c.4136T>C (p.Val1379Ala)
|
|
|
|
NM_001040142.2(SCN2A):c.4138G>C (p.Val1380Leu)
|
|
|
|
NM_001040142.2(SCN2A):c.4139T>C (p.Val1380Ala)
|
|
|
|
NM_001040142.2(SCN2A):c.4139T>G (p.Val1380Gly)
|
|
|
|
NM_001040142.2(SCN2A):c.4140C>G (p.Val1380=)
|
|
|
|
NM_001040142.2(SCN2A):c.4141A>G (p.Asn1381Asp)
|
|
|
|
NM_001040142.2(SCN2A):c.4141A>T (p.Asn1381Tyr)
|
|
|
|
NM_001040142.2(SCN2A):c.4141_4142insGTGCACGCTT (p.Asn1381fs)
|
|
|
|
NM_001040142.2(SCN2A):c.4142A>G (p.Asn1381Ser)
|
rs2105373170
|
|
|
NM_001040142.2(SCN2A):c.4151G>A (p.Ser1384Asn)
|
|
|
|
NM_001040142.2(SCN2A):c.4156T>G (p.Cys1386Gly)
|
rs794727364
|
|
|
NM_001040142.2(SCN2A):c.4168A>G (p.Ile1390Val)
|
|
|
|
NM_001040142.2(SCN2A):c.4175G>A (p.Ser1392Asn)
|
|
|
|
NM_001040142.2(SCN2A):c.4176C>A (p.Ser1392Arg)
|
|
|
|
NM_001040142.2(SCN2A):c.4187C>T (p.Ala1396Val)
|
rs914316483
|
|
|
NM_001040142.2(SCN2A):c.4191G>C (p.Arg1397Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.4194G>C (p.Trp1398Cys)
|
|
|
|
NM_001040142.2(SCN2A):c.4201G>A (p.Val1401Met)
|
rs1264909971
|
|
|
NM_001040142.2(SCN2A):c.4201G>C (p.Val1401Leu)
|
rs1264909971
|
|
|
NM_001040142.2(SCN2A):c.4216G>T (p.Asp1406Tyr)
|
|
|
|
NM_001040142.2(SCN2A):c.4222G>A (p.Val1408Ile)
|
|
|
|
NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala)
|
rs1574716488
|
|
|
NM_001040142.2(SCN2A):c.4224A>G (p.Val1408=)
|
rs1060504830
|
|
|
NM_001040142.2(SCN2A):c.422C>G (p.Thr141Ser)
|
rs1553567082
|
|
|
NM_001040142.2(SCN2A):c.4232G>A (p.Gly1411Glu)
|
rs1701232096
|
|
|
NM_001040142.2(SCN2A):c.4243C>A (p.Leu1415Ile)
|
rs1574716524
|
|
|
NM_001040142.2(SCN2A):c.4245A>C (p.Leu1415=)
|
|
|
|
NM_001040142.2(SCN2A):c.4246C>T (p.Leu1416Phe)
|
rs1559399522
|
|
|
NM_001040142.2(SCN2A):c.424A>G (p.Asn142Asp)
|
rs1574552921
|
|
|
NM_001040142.2(SCN2A):c.4254+13T>C
|
|
|
|
NM_001040142.2(SCN2A):c.4254+15T>C
|
|
|
|
NM_001040142.2(SCN2A):c.4255-12C>G
|
|
|
|
NM_001040142.2(SCN2A):c.4255-3C>T
|
rs1553461654
|
|
|
NM_001040142.2(SCN2A):c.4255-4A>G
|
|
|
|
NM_001040142.2(SCN2A):c.4255-6T>A
|
rs1701381827
|
|
|
NM_001040142.2(SCN2A):c.4255G>T (p.Ala1419Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.4256C>G (p.Ala1419Gly)
|
|
|
|
NM_001040142.2(SCN2A):c.4258A>G (p.Thr1420Ala)
|
|
|
|
NM_001040142.2(SCN2A):c.4260G>A (p.Thr1420=)
|
rs138241682
|
|
|
NM_001040142.2(SCN2A):c.4264A>G (p.Lys1422Glu)
|
rs796053137
|
|
|
NM_001040142.2(SCN2A):c.4268G>A (p.Gly1423Glu)
|
|
|
|
NM_001040142.2(SCN2A):c.4270dup (p.Trp1424fs)
|
rs1553461662
|
|
|
NM_001040142.2(SCN2A):c.4272G>A (p.Trp1424Ter)
|
|
|
|
NM_001040142.2(SCN2A):c.4276G>C (p.Asp1426His)
|
|
|
|
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter)
|
rs796053138
|
|
|
NM_001040142.2(SCN2A):c.4304G>A (p.Arg1435Gln)
|
rs1574723722
|
|
|
NM_001040142.2(SCN2A):c.4305A>G (p.Arg1435=)
|
|
|
|
NM_001040142.2(SCN2A):c.4308+10G>T
|
rs2105378539
|
|
|
NM_001040142.2(SCN2A):c.4308+15A>C
|
|
|
|
NM_001040142.2(SCN2A):c.4309-11A>G
|
|
|
|
NM_001040142.2(SCN2A):c.4309-2A>G
|
|
|
|
NM_001040142.2(SCN2A):c.4311A>G (p.Val1437=)
|
|
|
|
NM_001040142.2(SCN2A):c.4316T>G (p.Leu1439Ter)
|
rs2105384553
|
|
|
NM_001040142.2(SCN2A):c.4320A>G (p.Gln1440=)
|
|
|
|
NM_001040142.2(SCN2A):c.4327T>C (p.Tyr1443His)
|
|
|
|
NM_001040142.2(SCN2A):c.4329T>C (p.Tyr1443=)
|
rs2105384580
|
|
|
NM_001040142.2(SCN2A):c.432A>G (p.Val144=)
|
rs757533588
|
|
|
NM_001040142.2(SCN2A):c.4337A>G (p.Asn1446Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.4341G>T (p.Leu1447=)
|
rs2105384602
|
|
|
NM_001040142.2(SCN2A):c.4350T>G (p.Tyr1450Ter)
|
rs1574731232
|
|
|
NM_001040142.2(SCN2A):c.4353T>G (p.Leu1451=)
|
rs2105384625
|
|
|
NM_001040142.2(SCN2A):c.4363A>G (p.Ile1455Val)
|
|
|
|
NM_001040142.2(SCN2A):c.4363A>T (p.Ile1455Phe)
|
rs2105384627
|
|
|
NM_001040142.2(SCN2A):c.4366T>G (p.Phe1456Val)
|
|
|
|
NM_001040142.2(SCN2A):c.4369A>G (p.Ile1457Val)
|
rs796053142
|
|
|
NM_001040142.2(SCN2A):c.4370T>A (p.Ile1457Asn)
|
|
|
|
NM_001040142.2(SCN2A):c.4377T>G (p.Phe1459Leu)
|
|
|
|
NM_001040142.2(SCN2A):c.4379G>A (p.Gly1460Asp)
|
|
|
|
NM_001040142.2(SCN2A):c.4383A>T (p.Ser1461=)
|
|
|
|
NM_001040142.2(SCN2A):c.4385del (p.Phe1462fs)
|
|
|
|
NM_001040142.2(SCN2A):c.4389dup (p.Thr1464fs)
|
rs1701553164
|
|
|
NM_001040142.2(SCN2A):c.4391C>T (p.Thr1464Ile)
|
rs1701553334
|
|
|
NM_001040142.2(SCN2A):c.43C>T (p.Arg15Cys)
|
|
|
|
NM_001040142.2(SCN2A):c.4403T>C (p.Phe1468Ser)
|
rs1701554113
|
|
|
NM_001040142.2(SCN2A):c.4404C>T (p.Phe1468=)
|
rs2105384719
|
|
|
NM_001040142.2(SCN2A):c.4406T>C (p.Ile1469Thr)
|
|
|
|
NM_001040142.2(SCN2A):c.4418T>C (p.Ile1473Thr)
|
rs1085307898
|
|
|
NM_001040142.2(SCN2A):c.4425C>G (p.Asn1475Lys)
|
|
|
|
NM_001040142.2(SCN2A):c.4426T>C (p.Phe1476Leu)
|
|
|
|
NM_001040142.2(SCN2A):c.4428C>T (p.Phe1476=)
|
|
|
|
NM_001040142.2(SCN2A):c.4432C>A (p.Gln1478Lys)
|
rs1553462132
|
|
|
NM_001040142.2(SCN2A):c.4432C>G (p.Gln1478Glu)
|
rs1553462132
|
|
|
NM_001040142.2(SCN2A):c.4433A>C (p.Gln1478Pro)
|
|
|
|
NM_001040142.2(SCN2A):c.4434A>C (p.Gln1478His)
|
|
|
|
NM_001040142.2(SCN2A):c.4435C>A (p.Gln1479Lys)
|
rs1553462134
|
|
|
NM_001040142.2(SCN2A):c.4435C>G (p.Gln1479Glu)
|
rs1553462134
|
|
|
NM_001040142.2(SCN2A):c.4437del (p.Lys1481fs)
|
|
|
|
NM_001040142.2(SCN2A):c.4443G>A (p.Lys1481=)
|
|
|
|
NM_001040142.2(SCN2A):c.4446+11T>C
|
|
|
|
NM_001040142.2(SCN2A):c.4446+15A>G
|
|
|
|
NM_001040142.2(SCN2A):c.4446+16C>T
|
|
|
|
NM_001040142.2(SCN2A):c.4446+18T>A
|
|
|
|
NM_001040142.2(SCN2A):c.4446+5G>C
|
|
|
|
NM_001040142.2(SCN2A):c.4446+9A>G
|
rs796053140
|
|
|
NM_001040142.2(SCN2A):c.4447-20T>G
|
rs2105385618
|
|
|
NM_001040142.2(SCN2A):c.4447-2_4449del
|
|
|
|
NM_001040142.2(SCN2A):c.4447-6C>T
|
rs1173151782
|
|
|
NM_001040142.2(SCN2A):c.4447-7_4447-3del
|
rs1701578547
|
|
|
NM_001040142.2(SCN2A):c.4447T>C (p.Phe1483Leu)
|
|
|
|
NM_001040142.2(SCN2A):c.444G>A (p.Met148Ile)
|
|
|
|
NM_001040142.2(SCN2A):c.4451G>A (p.Gly1484Glu)
|
rs2105385669
|
|
|
NM_001040142.2(SCN2A):c.4451G>C (p.Gly1484Ala)
|
rs2105385669
|
|
|
NM_001040142.2(SCN2A):c.4451_4454del (p.Gly1484fs)
|
|
|
|
NM_001040142.2(SCN2A):c.4453G>A (p.Gly1485Ser)
|
rs1701578958
|
|
|
NM_001040142.2(SCN2A):c.4453G>C (p.Gly1485Arg)
|
|
|
|
NM_001040142.2(SCN2A):c.4460A>T (p.Asp1487Val)
|
|
|
|
NM_001040142.2(SCN2A):c.4461C>G (p.Asp1487Glu)
|
rs1553462203
|
|
|
NM_001040142.2(SCN2A):c.4462A>G (p.Ile1488Val)
|
rs2105385694
|
|
|
NM_001040142.2(SCN2A):c.4468A>G (p.Met1490Val)
|
rs869312663
|
|
|
NM_001040142.2(SCN2A):c.4470G>C (p.Met1490Ile)
|
|
|
|
NM_001040142.2(SCN2A):c.4478A>C (p.Glu1493Ala)
|
|
|
|
NM_001040142.2(SCN2A):c.448A>G (p.Asn150Asp)
|
|
|
|
NM_001040142.2(SCN2A):c.4491C>T (p.Tyr1497=)
|
rs1372606065
|
|
|
NM_001040142.2(SCN2A):c.4492T>C (p.Tyr1498His)
|
rs2105385797
|
|
|
NM_001040142.2(SCN2A):c.44G>A (p.Arg15His)
|
|
|
|
NM_001040142.2(SCN2A):c.4501A>G (p.Met1501Val)
|
rs2105385817
|
|
|
NM_001040142.2(SCN2A):c.4502T>C (p.Met1501Thr)
|
rs1553462227
|
|
|
NM_001040142.2(SCN2A):c.4503G>A (p.Met1501Ile)
|
|
|
|
NM_001040142.2(SCN2A):c.4515T>C (p.Gly1505=)
|
|
|
|
NM_001040142.2(SCN2A):c.4517C>G (p.Ser1506Ter)
|
rs1287017958
|
|
|
NM_001040142.2(SCN2A):c.4533dup (p.Pro1512fs)
|
rs2105385903
|
|
|
NM_001040142.2(SCN2A):c.4535C>A (p.Pro1512His)
|
rs2105385911
|
|
|
NM_001040142.2(SCN2A):c.4535C>G (p.Pro1512Arg)
|
|
|
|
NM_001040142.2(SCN2A):c.4536C>A (p.Pro1512=)
|
|
|
|
NM_001040142.2(SCN2A):c.4537A>G (p.Ile1513Val)
|
|
|
|
NM_001040142.2(SCN2A):c.4538T>C (p.Ile1513Thr)
|
|
|
|
NM_001040142.2(SCN2A):c.4539A>T (p.Ile1513=)
|
rs200553623
|
|
|
NM_001040142.2(SCN2A):c.4543C>T (p.Arg1515Ter)
|
rs1365774406
|
|
|
NM_001040142.2(SCN2A):c.4544G>A (p.Arg1515Gln)
|
|
|
|
NM_001040142.2(SCN2A):c.4545A>T (p.Arg1515=)
|
|
|
|
NM_001040142.2(SCN2A):c.4549G>A (p.Ala1517Thr)
|
rs1701583848
|
|
|
NM_001040142.2(SCN2A):c.4549G>T (p.Ala1517Ser)
|
rs1701583848
|
|
|
NM_001040142.2(SCN2A):c.4551+12A>G
|
|
|
|
NM_001040142.2(SCN2A):c.4551+19C>A
|
rs753272771
|
|
|
NM_001040142.2(SCN2A):c.4551+1G>A
|
rs527688117
|
|
|
NM_001040142.2(SCN2A):c.4551+20A>G
|
|
|
|
NM_001040142.2(SCN2A):c.4551+8T>C
|
|
|
|
NM_001040142.2(SCN2A):c.4551+8T>G
|
rs1064797263
|
|
|
NM_001040142.2(SCN2A):c.4552-10T>C
|
|
|
|
NM_001040142.2(SCN2A):c.4552-12T>C
|
|
|
|
NM_001040142.2(SCN2A):c.4552-14del
|
|
|
|
NM_001040142.2(SCN2A):c.4552-15T>C
|
|
|
|
NM_001040142.2(SCN2A):c.4552-16A>G
|
|
|
|
NM_001040142.2(SCN2A):c.4552-2A>G
|
|
|
|
NM_001040142.2(SCN2A):c.4552-4C>A
|
|
|
|
NM_001040142.2(SCN2A):c.4552-5T>C
|
|
|
|
NM_001040142.2(SCN2A):c.4557A>G (p.Lys1519=)
|
rs1574746483
|
|
|
NM_001040142.2(SCN2A):c.455C>T (p.Pro152Leu)
|
|
|
|
NM_001040142.2(SCN2A):c.4568T>A (p.Met1523Lys)
|
|
|
|
NM_001040142.2(SCN2A):c.4572C>A (p.Val1524=)
|
|
|
|
NM_001040142.2(SCN2A):c.4572C>T (p.Val1524=)
|
rs776254144
|
|
|
NM_001040142.2(SCN2A):c.4575T>C (p.Phe1525=)
|
|
|
|
NM_001040142.2(SCN2A):c.4575del (p.Phe1525fs)
|
|
|
|
NM_001040142.2(SCN2A):c.4576G>C (p.Asp1526His)
|
|
|
|
NM_001040142.2(SCN2A):c.4579T>G (p.Phe1527Val)
|
|
|
|
NM_001040142.2(SCN2A):c.4593A>T (p.Gln1531His)
|
rs2105398231
|
|
|
NM_001040142.2(SCN2A):c.4596C>A (p.Val1532=)
|
|
|
|
NM_001040142.2(SCN2A):c.4596C>G (p.Val1532=)
|
rs371690453
|
|
|
NM_001040142.2(SCN2A):c.4603A>G (p.Ile1535Val)
|
rs1701897899
|
|
|
NM_001040142.2(SCN2A):c.4607G>A (p.Ser1536Asn)
|
rs1044510361
|
|
|
NM_001040142.2(SCN2A):c.4610T>C (p.Ile1537Thr)
|
rs1553463038
|
|
|
NM_001040142.2(SCN2A):c.4614G>A (p.Met1538Ile)
|
rs1553463042
|
|
|
NM_001040142.2(SCN2A):c.4614G>C (p.Met1538Ile)
|
rs1553463042
|
|
|
NM_001040142.2(SCN2A):c.4614G>T (p.Met1538Ile)
|
rs1553463042
|
|
|
NM_001040142.2(SCN2A):c.4618C>T (p.Leu1540Phe)
|
|
|
|
NM_001040142.2(SCN2A):c.4623C>G (p.Ile1541Met)
|
|
|
|
NM_001040142.2(SCN2A):c.4627C>T (p.Leu1543Phe)
|
|
|
|
NM_001040142.2(SCN2A):c.4633A>G (p.Met1545Val)
|
rs796053150
|
|
|
NM_001040142.2(SCN2A):c.4635G>C (p.Met1545Ile)
|
rs1574746733
|
|
|
NM_001040142.2(SCN2A):c.4635G>T (p.Met1545Ile)
|
rs1574746733
|
|
|
NM_001040142.2(SCN2A):c.463A>G (p.Thr155Ala)
|
|
|
|
NM_001040142.2(SCN2A):c.4640C>G (p.Thr1547Ser)
|
rs2105398315
|
|
|
NM_001040142.2(SCN2A):c.4643T>C (p.Met1548Thr)
|
rs1057519524
|
|
|
NM_001040142.2(SCN2A):c.4652A>C (p.Glu1551Ala)
|
|
|
|
NM_001040142.2(SCN2A):c.4654A>G (p.Thr1552Ala)
|
|
|
|
NM_001040142.2(SCN2A):c.4655C>T (p.Thr1552Ile)
|
|
|
|
NM_001040142.2(SCN2A):c.4656C>G (p.Thr1552=)
|
rs765041838
|
|
|
NM_001040142.2(SCN2A):c.4659T>C (p.Asp1553=)
|
|
|
|
NM_001040142.2(SCN2A):c.465A>G (p.Thr155=)
|
|
|
|
NM_001040142.2(SCN2A):c.4660G>T (p.Asp1554Tyr)
|
|
|
|
NM_001040142.2(SCN2A):c.4665G>C (p.Gln1555His)
|
|
|
|
NM_001040142.2(SCN2A):c.466A>C (p.Lys156Gln)
|
rs1553567130
|
|
|
NM_001040142.2(SCN2A):c.4672G>C (p.Glu1558Gln)
|
|
|
|
NM_001040142.2(SCN2A):c.4684A>G (p.Ile1562Val)
|
rs779900992
|
|
|
NM_001040142.2(SCN2A):c.4686T>A (p.Ile1562=)
|
|
|
|
NM_001040142.2(SCN2A):c.4687C>G (p.Leu1563Val)
|
rs121917750
|
|
|
NM_001040142.2(SCN2A):c.4688T>G (p.Leu1563Arg)
|
rs1574746935
|
|
|
NM_001040142.2(SCN2A):c.4693T>A (p.Trp1565Arg)
|
rs1701902994
|
|
|
NM_001040142.2(SCN2A):c.4712T>C (p.Ile1571Thr)
|
rs2105398463
|
|
|
NM_001040142.2(SCN2A):c.4713T>G (p.Ile1571Met)
|
|
|
|
NM_001040142.2(SCN2A):c.4719G>C (p.Leu1573=)
|
|
|
|
NM_001040142.2(SCN2A):c.4720T>C (p.Phe1574Leu)
|
|
|
|
NM_001040142.2(SCN2A):c.4722C>A (p.Phe1574Leu)
|
rs1558884200
|
|
|
NM_001040142.2(SCN2A):c.4736T>C (p.Val1579Ala)
|
rs1384116109
|
|
|
NM_001040142.2(SCN2A):c.4738C>T (p.Leu1580=)
|
|
|
|
NM_001040142.2(SCN2A):c.4745T>C (p.Leu1582Pro)
|
rs1701905156
|
|
|
NM_001040142.2(SCN2A):c.4748T>C (p.Ile1583Thr)
|
rs367566833
|
|
|
NM_001040142.2(SCN2A):c.474G>A (p.Val158=)
|
|
|
|
NM_001040142.2(SCN2A):c.4757G>A (p.Arg1586His)
|
|
|
|
NM_001040142.2(SCN2A):c.476+17T>A
|
|
|
|
NM_001040142.2(SCN2A):c.476+6T>C
|
|
|
|
NM_001040142.2(SCN2A):c.4766A>G (p.Tyr1589Cys)
|
rs1553463119
|
|
|
NM_001040142.2(SCN2A):c.4769T>C (p.Phe1590Ser)
|
rs544310562
|
|
|
NM_001040142.2(SCN2A):c.477-15G>A
|
|
|
|
NM_001040142.2(SCN2A):c.477-15G>T
|
rs1475312967
|
|
|
NM_001040142.2(SCN2A):c.477-20G>A
|
|
|
|
NM_001040142.2(SCN2A):c.477-5C>T
|
rs2105243234
|
|
|
NM_001040142.2(SCN2A):c.4779A>T (p.Gly1593=)
|
|
|
|
NM_001040142.2(SCN2A):c.4787T>G (p.Ile1596Ser)
|
rs2105398613
|
|
|
NM_001040142.2(SCN2A):c.4792G>T (p.Asp1598Tyr)
|
rs2105398617
|
|
|
NM_001040142.2(SCN2A):c.4795T>G (p.Phe1599Val)
|
|
|
|
NM_001040142.2(SCN2A):c.4797T>C (p.Phe1599=)
|
|
|
|
NM_001040142.2(SCN2A):c.4798G>T (p.Val1600Leu)
|
|
|
|
NM_001040142.2(SCN2A):c.4801G>A (p.Val1601Met)
|
rs1553463140
|
|
|
NM_001040142.2(SCN2A):c.4801G>T (p.Val1601Leu)
|
rs1553463140
|
|
|
NM_001040142.2(SCN2A):c.4802T>C (p.Val1601Ala)
|
rs1701908419
|
|
|
NM_001040142.2(SCN2A):c.4822+1G>A
|
|
|
|
NM_001040142.2(SCN2A):c.4822+1G>T
|
|
|
|
NM_001040142.2(SCN2A):c.4822+5G>A
|
|
|
|
NM_001040142.2(SCN2A):c.4822+8G>A
|
rs2105398667
|
|
|
NM_001040142.2(SCN2A):c.4823-15G>T
|
rs375524288
|
|
|
NM_001040142.2(SCN2A):c.4823-19A>G
|
|
|
|
NM_001040142.2(SCN2A):c.4823-6C>A
|
|
|
|
NM_001040142.2(SCN2A):c.4827G>A (p.Met1609Ile)
|
rs2105402003
|
|
|
NM_001040142.2(SCN2A):c.482C>A (p.Thr161Asn)
|
rs2105243271
|
|
|
NM_001040142.2(SCN2A):c.4832T>A (p.Leu1611Gln)
|
rs1701999328
|
|
|
NM_001040142.2(SCN2A):c.4832del (p.Leu1611fs)
|
|
|
|
NM_001040142.2(SCN2A):c.4835C>G (p.Ala1612Gly)
|
rs2105402019
|
|
|
NM_001040142.2(SCN2A):c.4836T>A (p.Ala1612=)
|
rs144133411
|
|
|
NM_001040142.2(SCN2A):c.483C>G (p.Thr161=)
|
|
|
|
NM_001040142.2(SCN2A):c.4840C>A (p.Leu1614Met)
|
|
|
|
NM_001040142.2(SCN2A):c.4842G>A (p.Leu1614=)
|
|
|
|
NM_001040142.2(SCN2A):c.4842G>C (p.Leu1614=)
|
|
|
|
NM_001040142.2(SCN2A):c.4844_4845del (p.Ile1615fs)
|
rs1574751309
|
|
|
NM_001040142.2(SCN2A):c.4849A>G (p.Lys1617Glu)
|
|
|
|
NM_001040142.2(SCN2A):c.4864C>T (p.Pro1622Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.4868C>A (p.Thr1623Asn)
|
rs1702001950
|
|
|
NM_001040142.2(SCN2A):c.486T>A (p.Phe162Leu)
|
rs1346837998
|
|
|
NM_001040142.2(SCN2A):c.4871T>C (p.Leu1624Pro)
|
|
|
|
NM_001040142.2(SCN2A):c.4872G>C (p.Leu1624=)
|
rs1702002389
|
|
|
NM_001040142.2(SCN2A):c.4876C>T (p.Arg1626Ter)
|
rs1060503102
|
|
|
NM_001040142.2(SCN2A):c.4877G>A (p.Arg1626Gln)
|
rs796053155
|
|
|
NM_001040142.2(SCN2A):c.4879G>A (p.Val1627Met)
|
rs796053156
|
|
|
NM_001040142.2(SCN2A):c.4879G>C (p.Val1627Leu)
|
|
|
|
NM_001040142.2(SCN2A):c.4880T>C (p.Val1627Ala)
|
rs1702003246
|
|
|
NM_001040142.2(SCN2A):c.4883T>C (p.Ile1628Thr)
|
rs1553463420
|
|
|
NM_001040142.2(SCN2A):c.4885C>G (p.Arg1629Gly)
|
rs1702003567
|
|
|
NM_001040142.2(SCN2A):c.4885C>T (p.Arg1629Cys)
|
rs1702003567
|
|
|
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
|
|
|
|
NM_001040142.2(SCN2A):c.4886G>C (p.Arg1629Pro)
|
|
|
|
NM_001040142.2(SCN2A):c.4886G>T (p.Arg1629Leu)
|
rs796053157
|
|
|
NM_001040142.2(SCN2A):c.4892C>G (p.Ala1631Gly)
|
rs1574751493
|
|
|
NM_001040142.2(SCN2A):c.4901G>T (p.Gly1634Val)
|
rs1553463427
|
|
|
NM_001040142.2(SCN2A):c.4903C>T (p.Arg1635Ter)
|
rs1064794730
|
|
|
NM_001040142.2(SCN2A):c.4904G>A (p.Arg1635Gln)
|
rs1057520844
|
|
|
NM_001040142.2(SCN2A):c.4905A>C (p.Arg1635=)
|
|
|
|
NM_001040142.2(SCN2A):c.4907T>A (p.Ile1636Asn)
|
|
|
|
NM_001040142.2(SCN2A):c.4908C>G (p.Ile1636Met)
|
rs796053160
|
|
|
NM_001040142.2(SCN2A):c.4912C>A (p.Arg1638Ser)
|
rs1702006147
|
|
|
NM_001040142.2(SCN2A):c.4912C>T (p.Arg1638Cys)
|
rs1702006147
|
|
|
NM_001040142.2(SCN2A):c.4913G>C (p.Arg1638Pro)
|
rs1702006258
|
|
|
NM_001040142.2(SCN2A):c.4913_4914delinsCA (p.Arg1638Pro)
|
|
|
|
NM_001040142.2(SCN2A):c.4918A>C (p.Ile1640Leu)
|
|
|
|
NM_001040142.2(SCN2A):c.4918A>T (p.Ile1640Phe)
|
rs1702006673
|
|
|
NM_001040142.2(SCN2A):c.4928C>A (p.Ala1643Glu)
|
|
|
|
NM_001040142.2(SCN2A):c.4932G>C (p.Lys1644Asn)
|
|
|
|
NM_001040142.2(SCN2A):c.4935G>A (p.Gly1645=)
|
|
|
|
NM_001040142.2(SCN2A):c.4938C>T (p.Ile1646=)
|
|
|
|
NM_001040142.2(SCN2A):c.4940G>A (p.Arg1647His)
|
rs797044927
|
|
|
NM_001040142.2(SCN2A):c.4940G>C (p.Arg1647Pro)
|
|
|
|
NM_001040142.2(SCN2A):c.4944G>A (p.Thr1648=)
|
rs565309819
|
|
|
NM_001040142.2(SCN2A):c.4946T>C (p.Leu1649Pro)
|
rs1702008208
|
|
|
NM_001040142.2(SCN2A):c.4956T>A (p.Ala1652=)
|
|
|
|
NM_001040142.2(SCN2A):c.4960A>G (p.Met1654Val)
|
|
|
|
NM_001040142.2(SCN2A):c.4972C>T (p.Pro1658Ser)
|
rs1702009188
|
|
|
NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val)
|
rs1060503101
|
|
|
NM_001040142.2(SCN2A):c.4993C>G (p.Leu1665Val)
|
|
|
|
NM_001040142.2(SCN2A):c.4995C>T (p.Leu1665=)
|
|
|
|
NM_001040142.2(SCN2A):c.5005C>G (p.Leu1669Val)
|
rs2105402420
|
|
|
NM_001040142.2(SCN2A):c.5007G>T (p.Leu1669=)
|
rs1423260538
|
|
|
NM_001040142.2(SCN2A):c.5016C>T (p.Phe1672=)
|
|
|
|
NM_001040142.2(SCN2A):c.5017A>T (p.Ile1673Phe)
|
|
|
|
NM_001040142.2(SCN2A):c.5018T>C (p.Ile1673Thr)
|
|
|
|
NM_001040142.2(SCN2A):c.5027T>A (p.Ile1676Asn)
|
|
|
|
NM_001040142.2(SCN2A):c.5035A>G (p.Met1679Val)
|
|
|
|
NM_001040142.2(SCN2A):c.5042A>G (p.Asn1681Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.5060G>A (p.Arg1687Lys)
|
rs2105402498
|
|
|
NM_001040142.2(SCN2A):c.5066T>C (p.Val1689Ala)
|
rs766554576
|
|
|
NM_001040142.2(SCN2A):c.5070G>A (p.Gly1690=)
|
|
|
|
NM_001040142.2(SCN2A):c.5073C>T (p.Ile1691=)
|
rs1702013086
|
|
|
NM_001040142.2(SCN2A):c.5074G>A (p.Asp1692Asn)
|
rs2105402518
|
|
|
NM_001040142.2(SCN2A):c.5076T>C (p.Asp1692=)
|
|
|
|
NM_001040142.2(SCN2A):c.507del (p.Glu169fs)
|
rs1574554892
|
|
|
NM_001040142.2(SCN2A):c.5080A>G (p.Met1694Val)
|
|
|
|
NM_001040142.2(SCN2A):c.5097C>T (p.Thr1699=)
|
|
|
|
NM_001040142.2(SCN2A):c.5112G>C (p.Met1704Ile)
|
|
|
|
NM_001040142.2(SCN2A):c.5113A>C (p.Ile1705Leu)
|
rs1574752113
|
|
|
NM_001040142.2(SCN2A):c.5114T>C (p.Ile1705Thr)
|
rs2105402552
|
|
|
NM_001040142.2(SCN2A):c.5117G>C (p.Cys1706Ser)
|
rs1553463513
|
|
|
NM_001040142.2(SCN2A):c.5125del (p.Gln1709fs)
|
rs1553463516
|
|
|
NM_001040142.2(SCN2A):c.5131A>G (p.Thr1711Ala)
|
|
|
|
NM_001040142.2(SCN2A):c.5132C>G (p.Thr1711Arg)
|
|
|
|
NM_001040142.2(SCN2A):c.5136C>A (p.Thr1712=)
|
|
|
|
NM_001040142.2(SCN2A):c.5143G>A (p.Gly1715Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.5144_5153del (p.Gly1715fs)
|
rs2105402593
|
|
|
NM_001040142.2(SCN2A):c.514A>G (p.Ile172Val)
|
|
|
|
NM_001040142.2(SCN2A):c.5163A>T (p.Ala1721=)
|
|
|
|
NM_001040142.2(SCN2A):c.5167A>G (p.Ile1723Val)
|
|
|
|
NM_001040142.2(SCN2A):c.5169T>C (p.Ile1723=)
|
|
|
|
NM_001040142.2(SCN2A):c.5175T>G (p.Asn1725Lys)
|
rs1428775007
|
|
|
NM_001040142.2(SCN2A):c.5180G>C (p.Gly1727Ala)
|
|
|
|
NM_001040142.2(SCN2A):c.5180G>T (p.Gly1727Val)
|
rs1702017827
|
|
|
NM_001040142.2(SCN2A):c.5182C>T (p.Pro1728Ser)
|
rs2105402669
|
|
|
NM_001040142.2(SCN2A):c.5183C>T (p.Pro1728Leu)
|
rs2105402674
|
|
|
NM_001040142.2(SCN2A):c.5184T>A (p.Pro1728=)
|
|
|
|
NM_001040142.2(SCN2A):c.5187A>C (p.Pro1729=)
|
|
|
|
NM_001040142.2(SCN2A):c.5187A>T (p.Pro1729=)
|
|
|
|
NM_001040142.2(SCN2A):c.5190C>T (p.Asp1730=)
|
rs757159972
|
|
|
NM_001040142.2(SCN2A):c.5196C>A (p.Asp1732Glu)
|
rs766372407
|
|
|
NM_001040142.2(SCN2A):c.5196C>T (p.Asp1732=)
|
|
|
|
NM_001040142.2(SCN2A):c.519A>G (p.Lys173=)
|
rs200941759
|
|
|
NM_001040142.2(SCN2A):c.51T>C (p.Phe17=)
|
|
|
|
NM_001040142.2(SCN2A):c.5219G>A (p.Ser1740Asn)
|
|
|
|
NM_001040142.2(SCN2A):c.5230G>A (p.Gly1744Arg)
|
rs1553463570
|
|
|
NM_001040142.2(SCN2A):c.5231G>A (p.Gly1744Glu)
|
|
|
|
NM_001040142.2(SCN2A):c.5236T>C (p.Cys1746Arg)
|
|
|
|
NM_001040142.2(SCN2A):c.5268T>A (p.Phe1756Leu)
|
rs1702021533
|
|
|
NM_001040142.2(SCN2A):c.5268dup (p.Val1757fs)
|
|
|
|
NM_001040142.2(SCN2A):c.526G>T (p.Ala176Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.5271C>G (p.Val1757=)
|
rs2105402892
|
|
|
NM_001040142.2(SCN2A):c.5272A>C (p.Ser1758Arg)
|
rs1064794005
|
|
|
NM_001040142.2(SCN2A):c.5278A>G (p.Ile1760Val)
|
rs1702022330
|
|
|
NM_001040142.2(SCN2A):c.5281A>G (p.Ile1761Val)
|
rs1574752573
|
|
|
NM_001040142.2(SCN2A):c.5292C>T (p.Phe1764=)
|
|
|
|
NM_001040142.2(SCN2A):c.5304G>A (p.Val1768=)
|
|
|
|
NM_001040142.2(SCN2A):c.5306A>G (p.Asn1769Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.5316del (p.Ile1772fs)
|
rs1558886168
|
|
|
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr)
|
rs796053162
|
|
|
NM_001040142.2(SCN2A):c.5318C>T (p.Ala1773Val)
|
rs1553463602
|
|
|
NM_001040142.2(SCN2A):c.531G>A (p.Arg177=)
|
|
|
|
NM_001040142.2(SCN2A):c.5322C>T (p.Val1774=)
|
|
|
|
NM_001040142.2(SCN2A):c.5325C>G (p.Ile1775Met)
|
|
|
|
NM_001040142.2(SCN2A):c.5333A>T (p.Asn1778Ile)
|
rs1574752700
|
|
|
NM_001040142.2(SCN2A):c.5341G>A (p.Val1781Ile)
|
rs2105403003
|
|
|
NM_001040142.2(SCN2A):c.5342T>A (p.Val1781Asp)
|
rs1702025029
|
|
|
NM_001040142.2(SCN2A):c.5346T>C (p.Ala1782=)
|
|
|
|
NM_001040142.2(SCN2A):c.534C>T (p.Gly178=)
|
rs1559351963
|
|
|
NM_001040142.2(SCN2A):c.5359G>A (p.Ala1787Thr)
|
|
|
|
NM_001040142.2(SCN2A):c.5359G>T (p.Ala1787Ser)
|
rs760354266
|
|
|
NM_001040142.2(SCN2A):c.5364G>T (p.Glu1788Asp)
|
rs199925238
|
|
|
NM_001040142.2(SCN2A):c.539G>A (p.Cys180Tyr)
|
rs1064796281
|
|
|
NM_001040142.2(SCN2A):c.5407G>T (p.Glu1803Ter)
|
|
|
|
NM_001040142.2(SCN2A):c.5408A>T (p.Glu1803Val)
|
|
|
|
NM_001040142.2(SCN2A):c.5419C>T (p.Pro1807Ser)
|
rs1702027530
|
|
|
NM_001040142.2(SCN2A):c.5421C>T (p.Pro1807=)
|
|
|
|
NM_001040142.2(SCN2A):c.5422G>A (p.Asp1808Asn)
|
|
|
|
NM_001040142.2(SCN2A):c.5423A>G (p.Asp1808Gly)
|
rs1702028026
|
|
|
NM_001040142.2(SCN2A):c.5426C>T (p.Ala1809Val)
|
rs1553463646
|
|
|
NM_001040142.2(SCN2A):c.542T>C (p.Leu181Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.5431C>G (p.Gln1811Glu)
|
rs1553463649
|
|
|
NM_001040142.2(SCN2A):c.5433G>C (p.Gln1811His)
|
|
|
|
NM_001040142.2(SCN2A):c.5437A>G (p.Ile1813Val)
|
|
|
|
NM_001040142.2(SCN2A):c.543A>C (p.Leu181Phe)
|
rs796053170
|
|
|
NM_001040142.2(SCN2A):c.544G>A (p.Glu182Lys)
|
|
|
|
NM_001040142.2(SCN2A):c.5452C>G (p.Leu1818Val)
|
|
|
|
NM_001040142.2(SCN2A):c.5465C>T (p.Ala1822Val)
|
rs757542048
|
|
|
NM_001040142.2(SCN2A):c.5466A>G (p.Ala1822=)
|
|
|
|
NM_001040142.2(SCN2A):c.5468A>G (p.Asp1823Gly)
|
|
|
|
NM_001040142.2(SCN2A):c.546A>G (p.Glu182=)
|
|
|
|
NM_001040142.2(SCN2A):c.5471C>T (p.Ala1824Val)
|
|
|
|
NM_001040142.2(SCN2A):c.5481T>G (p.Pro1827=)
|
|
|
|
NM_001040142.2(SCN2A):c.5482C>G (p.Pro1828Ala)
|
rs2105403223
|
|
|
NM_001040142.2(SCN2A):c.5488C>T (p.Leu1830Phe)
|
rs1350014793
|
|
|
NM_001040142.2(SCN2A):c.549T>C (p.Asp183=)
|
rs1237372557
|
|
|
NM_001040142.2(SCN2A):c.5504A>G (p.Asn1835Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.5506A>C (p.Lys1836Gln)
|
|
|
|
NM_001040142.2(SCN2A):c.5506A>G (p.Lys1836Glu)
|
rs779432244
|
|
|
NM_001040142.2(SCN2A):c.550T>A (p.Phe184Ile)
|
|
|
|
NM_001040142.2(SCN2A):c.5513_5515del (p.Gln1838del)
|
|
|
|
NM_001040142.2(SCN2A):c.5514G>A (p.Gln1838=)
|
rs547095921
|
|
|
NM_001040142.2(SCN2A):c.5514G>C (p.Gln1838His)
|
rs547095921
|
|
|
NM_001040142.2(SCN2A):c.5517C>A (p.Leu1839=)
|
rs148424455
|
|
|
NM_001040142.2(SCN2A):c.5541G>C (p.Val1847=)
|
|
|
|
NM_001040142.2(SCN2A):c.554C>A (p.Thr185Lys)
|
|
|
|
NM_001040142.2(SCN2A):c.5551C>T (p.Arg1851Trp)
|
rs1553463718
|
|
|
NM_001040142.2(SCN2A):c.555A>G (p.Thr185=)
|
rs1485827292
|
|
|
NM_001040142.2(SCN2A):c.555A>T (p.Thr185=)
|
|
|
|
NM_001040142.2(SCN2A):c.5563C>A (p.Leu1855Ile)
|
rs2105403397
|
|
|
NM_001040142.2(SCN2A):c.5578G>C (p.Ala1860Pro)
|
|
|
|
NM_001040142.2(SCN2A):c.5588A>G (p.Lys1863Arg)
|
|
|
|
NM_001040142.2(SCN2A):c.5591G>A (p.Arg1864His)
|
rs1558886589
|
|
|
NM_001040142.2(SCN2A):c.5592T>C (p.Arg1864=)
|
|
|
|
NM_001040142.2(SCN2A):c.5597T>C (p.Leu1866Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.5603A>G (p.Glu1868Gly)
|
rs1553463750
|
|
|
NM_001040142.2(SCN2A):c.5604G>C (p.Glu1868Asp)
|
rs1166366442
|
|
|
NM_001040142.2(SCN2A):c.560T>C (p.Leu187Ser)
|
rs2105243435
|
|
|
NM_001040142.2(SCN2A):c.5616G>A (p.Met1872Ile)
|
|
|
|
NM_001040142.2(SCN2A):c.5619T>C (p.Asp1873=)
|
|
|
|
NM_001040142.2(SCN2A):c.5623C>T (p.Leu1875Phe)
|
rs1553463764
|
|
|
NM_001040142.2(SCN2A):c.5629A>T (p.Ile1877Leu)
|
rs1271110064
|
|
|
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr)
|
rs2105403536
|
|
|
NM_001040142.2(SCN2A):c.5637G>A (p.Met1879Ile)
|
|
|
|
NM_001040142.2(SCN2A):c.5638G>A (p.Glu1880Lys)
|
rs1553463772
|
|
|
NM_001040142.2(SCN2A):c.563G>A (p.Arg188Gln)
|
|
|
|
NM_001040142.2(SCN2A):c.5644C>A (p.Arg1882=)
|
|
|
|
NM_001040142.2(SCN2A):c.5644C>G (p.Arg1882Gly)
|
rs796053166
|
|
|
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln)
|
rs794727444
|
|
|
NM_001040142.2(SCN2A):c.5654C>T (p.Ala1885Val)
|
rs1553463800
|
|
|
NM_001040142.2(SCN2A):c.5660A>C (p.Asn1887Thr)
|
rs2105403619
|
|
|
NM_001040142.2(SCN2A):c.5662C>A (p.Pro1888Thr)
|
rs1553463814
|
|
|
NM_001040142.2(SCN2A):c.5668A>G (p.Lys1890Glu)
|
rs1553463817
|
|
|
NM_001040142.2(SCN2A):c.5670A>C (p.Lys1890Asn)
|
rs1702039582
|
|
|
NM_001040142.2(SCN2A):c.5671G>T (p.Val1891Phe)
|
|
|
|
NM_001040142.2(SCN2A):c.5675C>T (p.Ser1892Phe)
|
rs1558886841
|
|
|
NM_001040142.2(SCN2A):c.5677T>A (p.Tyr1893Asn)
|
rs1702040004
|
|
|
NM_001040142.2(SCN2A):c.5680G>A (p.Glu1894Lys)
|
|
|
|
NM_001040142.2(SCN2A):c.5681A>G (p.Glu1894Gly)
|
|
|
|
NM_001040142.2(SCN2A):c.5682G>A (p.Glu1894=)
|
|
|
|
NM_001040142.2(SCN2A):c.5683C>A (p.Pro1895Thr)
|
|
|
|
NM_001040142.2(SCN2A):c.5690C>G (p.Thr1897Arg)
|
|
|
|
NM_001040142.2(SCN2A):c.5690C>T (p.Thr1897Met)
|
rs1310973051
|
|
|
NM_001040142.2(SCN2A):c.5696C>T (p.Thr1899Met)
|
|
|
|
NM_001040142.2(SCN2A):c.5697G>T (p.Thr1899=)
|
rs746574956
|
|
|
NM_001040142.2(SCN2A):c.569C>T (p.Pro190Leu)
|
|
|
|
NM_001040142.2(SCN2A):c.570A>G (p.Pro190=)
|
|
|
|
NM_001040142.2(SCN2A):c.5720T>C (p.Val1907Ala)
|
|
|
|
NM_001040142.2(SCN2A):c.5721G>T (p.Val1907=)
|
rs1060504829
|
|
|
NM_001040142.2(SCN2A):c.5728A>G (p.Ile1910Val)
|
rs52803844
|
|
|
NM_001040142.2(SCN2A):c.5729T>C (p.Ile1910Thr)
|
|
|
|
NM_001040142.2(SCN2A):c.5731A>G (p.Ile1911Val)
|
rs372294906
|
|
|
NM_001040142.2(SCN2A):c.5732T>C (p.Ile1911Thr)
|
rs2105403778
|
|
|
NM_001040142.2(SCN2A):c.573G>T (p.Trp191Cys)
|
rs1553567381
|
|
|
NM_001040142.2(SCN2A):c.5742G>A (p.Arg1914=)
|
|
|
|
NM_001040142.2(SCN2A):c.5743G>A (p.Ala1915Thr)
|
|
|
|
NM_001040142.2(SCN2A):c.5744C>G (p.Ala1915Gly)
|
|
|
|
NM_001040142.2(SCN2A):c.5744C>T (p.Ala1915Val)
|
|
|
|
NM_001040142.2(SCN2A):c.5745T>C (p.Ala1915=)
|
rs1020615406
|
|
|
NM_001040142.2(SCN2A):c.5751A>T (p.Arg1917Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.5769A>G (p.Gln1923=)
|
|
|
|
NM_001040142.2(SCN2A):c.5772A>G (p.Lys1924=)
|
|
|
|
NM_001040142.2(SCN2A):c.5778A>G (p.Lys1926=)
|
|
|
|
NM_001040142.2(SCN2A):c.5783T>C (p.Val1928Ala)
|
|
|
|
NM_001040142.2(SCN2A):c.5792T>C (p.Ile1931Thr)
|
|
|
|
NM_001040142.2(SCN2A):c.5793A>G (p.Ile1931Met)
|
|
|
|
NM_001040142.2(SCN2A):c.5794T>C (p.Tyr1932His)
|
rs2105403922
|
|
|
NM_001040142.2(SCN2A):c.579G>A (p.Trp193Ter)
|
rs748656792
|
|
|
NM_001040142.2(SCN2A):c.5805C>T (p.Asp1935=)
|
|
|
|
NM_001040142.2(SCN2A):c.580T>C (p.Leu194=)
|
rs1015952309
|
|
|
NM_001040142.2(SCN2A):c.5819G>A (p.Cys1940Tyr)
|
|
|
|
NM_001040142.2(SCN2A):c.5819G>T (p.Cys1940Phe)
|
rs755792692
|
|
|
NM_001040142.2(SCN2A):c.5832C>G (p.Pro1944=)
|
rs1268874177
|
|
|
NM_001040142.2(SCN2A):c.5833A>G (p.Ile1945Val)
|
|
|
|
NM_001040142.2(SCN2A):c.5835C>T (p.Ile1945=)
|
rs972057381
|
|
|
NM_001040142.2(SCN2A):c.5840A>C (p.Glu1947Ala)
|
rs1702049382
|
|
|
NM_001040142.2(SCN2A):c.5844T>C (p.Asp1948=)
|
|
|
|
NM_001040142.2(SCN2A):c.584A>C (p.Asp195Ala)
|
|
|
|
NM_001040142.2(SCN2A):c.5852T>C (p.Ile1951Thr)
|
|
|
|
NM_001040142.2(SCN2A):c.5854G>A (p.Asp1952Asn)
|
rs1163504197
|
|
|
NM_001040142.2(SCN2A):c.5855A>G (p.Asp1952Gly)
|
|
|
|
NM_001040142.2(SCN2A):c.5862G>A (p.Leu1954=)
|
|
|
|
NM_001040142.2(SCN2A):c.5866G>A (p.Glu1956Lys)
|
|
|
|
NM_001040142.2(SCN2A):c.5866_5871del (p.Glu1956_Asn1957del)
|
|
|
|
NM_001040142.2(SCN2A):c.5868G>A (p.Glu1956=)
|
|
|
|
NM_001040142.2(SCN2A):c.586T>G (p.Phe196Val)
|
rs2105243497
|
|
|
NM_001040142.2(SCN2A):c.5873C>G (p.Ser1958Ter)
|
rs1558887309
|
|
|
NM_001040142.2(SCN2A):c.5878C>T (p.Pro1960Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.5892T>A (p.Asp1964Glu)
|
rs2105404198
|
|
|
NM_001040142.2(SCN2A):c.5897C>T (p.Thr1966Met)
|
rs112098080
|
|
|
NM_001040142.2(SCN2A):c.5898G>A (p.Thr1966=)
|
rs761947985
|
|
|
NM_001040142.2(SCN2A):c.589A>C (p.Thr197Pro)
|
rs1311569054
|
|
|
NM_001040142.2(SCN2A):c.5901T>G (p.Pro1967=)
|
|
|
|
NM_001040142.2(SCN2A):c.5903C>G (p.Ser1968Cys)
|
rs773545024
|
|
|
NM_001040142.2(SCN2A):c.5908A>G (p.Thr1970Ala)
|
|
|
|
NM_001040142.2(SCN2A):c.5914C>G (p.Pro1972Ala)
|
|
|
|
NM_001040142.2(SCN2A):c.5918C>G (p.Pro1973Arg)
|
rs1574754680
|
|
|
NM_001040142.2(SCN2A):c.591A>G (p.Thr197=)
|
|
|
|
NM_001040142.2(SCN2A):c.5924A>G (p.Tyr1975Cys)
|
rs1574754722
|
|
|
NM_001040142.2(SCN2A):c.5928T>C (p.Asp1976=)
|
rs755379418
|
|
|
NM_001040142.2(SCN2A):c.593T>A (p.Val198Asp)
|
rs1697272829
|
|
|
NM_001040142.2(SCN2A):c.5942C>G (p.Pro1981Arg)
|
rs752211376
|
|
|
NM_001040142.2(SCN2A):c.5955A>G (p.Lys1985=)
|
rs572474239
|
|
|
NM_001040142.2(SCN2A):c.5958T>A (p.Phe1986Leu)
|
rs1702056050
|
|
|
NM_001040142.2(SCN2A):c.5962A>G (p.Lys1988Glu)
|
rs1553463946
|
|
|
NM_001040142.2(SCN2A):c.5970A>G (p.Lys1990=)
|
|
|
|
NM_001040142.2(SCN2A):c.5984A>G (p.Asp1995Gly)
|
rs1574754954
|
|
|
NM_001040142.2(SCN2A):c.5986A>G (p.Lys1996Glu)
|
|
|
|
NM_001040142.2(SCN2A):c.5992_5999dup (p.Arg2001fs)
|
|
|
|
NM_001040142.2(SCN2A):c.5995G>T (p.Asp1999Tyr)
|
rs1702058510
|
|
|
NM_001040142.2(SCN2A):c.6007A>G (p.Ser2003Gly)
|
rs1389700505
|
|
|
NM_001040142.2(SCN2A):c.6009T>C (p.Ser2003=)
|
rs748224005
|
|
|
NM_001040142.2(SCN2A):c.6015G>A (p.Lys2005=)
|
rs1301968587
|
|
|
NM_001040142.2(SCN2A):c.6016_*4del (p.Ter2006LysextTer?)
|
rs1574755053
|
|
|
NM_001040142.2(SCN2A):c.602T>C (p.Phe201Ser)
|
rs1553567406
|
|
|
NM_001040142.2(SCN2A):c.605+11T>C
|
|
|
|
NM_001040142.2(SCN2A):c.605+14_605+15insTA
|
|
|
|
NM_001040142.2(SCN2A):c.605+15A>T
|
|
|
|
NM_001040142.2(SCN2A):c.605+16C>T
|
|
|
|
NM_001040142.2(SCN2A):c.605+1G>A
|
|
|
|
NM_001040142.2(SCN2A):c.605+1G>C
|
|
|
|
NM_001040142.2(SCN2A):c.605+3A>G
|
|
|
|
NM_001040142.2(SCN2A):c.605+4_605+7del
|
rs1697274160
|
|
|
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
|
|
|
|
NM_001040142.2(SCN2A):c.606-13C>A
|
|
|
|
NM_001040142.2(SCN2A):c.606-13_606-12insT
|
rs2105244802
|
|
|
NM_001040142.2(SCN2A):c.606-16_606-3del
|
|
|
|
NM_001040142.2(SCN2A):c.606-18G>A
|
|
|
|
NM_001040142.2(SCN2A):c.606-6_606-4del
|
rs2105244825
|
|
|
NM_001040142.2(SCN2A):c.606-7A>T
|
|
|
|
NM_001040142.2(SCN2A):c.606-8del
|
rs1697308967
|
|
|
NM_001040142.2(SCN2A):c.608A>T (p.Tyr203Phe)
|
|
|
|
NM_001040142.2(SCN2A):c.609T>C (p.Tyr203=)
|
rs1697310016
|
|
|
NM_001040142.2(SCN2A):c.620T>C (p.Phe207Ser)
|
rs1064796691
|
|
|
NM_001040142.2(SCN2A):c.626A>G (p.Asp209Gly)
|
|
|
|
NM_001040142.2(SCN2A):c.629T>A (p.Leu210Gln)
|
rs1559352517
|
|
|
NM_001040142.2(SCN2A):c.631G>A (p.Gly211Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.632G>A (p.Gly211Asp)
|
rs1697311700
|
|
|
NM_001040142.2(SCN2A):c.634A>G (p.Asn212Asp)
|
rs2105244906
|
|
|
NM_001040142.2(SCN2A):c.635A>G (p.Asn212Ser)
|
rs2105244912
|
|
|
NM_001040142.2(SCN2A):c.636T>C (p.Asn212=)
|
rs2105244918
|
|
|
NM_001040142.2(SCN2A):c.638T>C (p.Val213Ala)
|
rs1574556643
|
|
|
NM_001040142.2(SCN2A):c.643G>A (p.Ala215Thr)
|
rs1131691927
|
|
|
NM_001040142.2(SCN2A):c.644C>T (p.Ala215Val)
|
|
|
|
NM_001040142.2(SCN2A):c.645G>A (p.Ala215=)
|
rs370724112
|
|
|
NM_001040142.2(SCN2A):c.646T>C (p.Leu216=)
|
|
|
|
NM_001040142.2(SCN2A):c.647T>G (p.Leu216Trp)
|
rs796053203
|
|
|
NM_001040142.2(SCN2A):c.654A>G (p.Thr218=)
|
rs2105244995
|
|
|
NM_001040142.2(SCN2A):c.658A>G (p.Arg220Gly)
|
rs1559352550
|
|
|
NM_001040142.2(SCN2A):c.664C>A (p.Leu222Ile)
|
rs2105245017
|
|
|
NM_001040142.2(SCN2A):c.666C>T (p.Leu222=)
|
rs2105245029
|
|
|
NM_001040142.2(SCN2A):c.668G>A (p.Arg223Gln)
|
rs121917752
|
|
|
NM_001040142.2(SCN2A):c.679A>C (p.Thr227Pro)
|
rs1559352572
|
|
|
NM_001040142.2(SCN2A):c.679A>G (p.Thr227Ala)
|
rs1559352572
|
|
|
NM_001040142.2(SCN2A):c.681A>C (p.Thr227=)
|
rs2228987
|
|
|
NM_001040142.2(SCN2A):c.681A>G (p.Thr227=)
|
rs2228987
|
|
|
NM_001040142.2(SCN2A):c.684T>A (p.Ile228=)
|
rs2105245070
|
|
|
NM_001040142.2(SCN2A):c.685T>G (p.Ser229Ala)
|
rs1553567561
|
|
|
NM_001040142.2(SCN2A):c.687A>G (p.Ser229=)
|
rs779972161
|
|
|
NM_001040142.2(SCN2A):c.688G>A (p.Val230Ile)
|
rs1697315910
|
|
|
NM_001040142.2(SCN2A):c.697+11G>T
|
|
|
|
NM_001040142.2(SCN2A):c.698-14G>T
|
rs1697359238
|
|
|
NM_001040142.2(SCN2A):c.709_711delinsTTG (p.Ile237Leu)
|
rs1559353139
|
|
|
NM_001040142.2(SCN2A):c.70G>A (p.Ala24Thr)
|
rs527452801
|
|
|
NM_001040142.2(SCN2A):c.718G>A (p.Ala240Thr)
|
rs1064795014
|
|
|
NM_001040142.2(SCN2A):c.718G>T (p.Ala240Ser)
|
rs1064795014
|
|
|
NM_001040142.2(SCN2A):c.718del (p.Ala240fs)
|
rs2105247156
|
|
|
NM_001040142.2(SCN2A):c.722T>G (p.Leu241Arg)
|
|
|
|
NM_001040142.2(SCN2A):c.729G>C (p.Gln243His)
|
rs1697361678
|
|
|
NM_001040142.2(SCN2A):c.737A>G (p.Lys246Arg)
|
rs746181150
|
|
|
NM_001040142.2(SCN2A):c.742C>A (p.Leu248Ile)
|
rs1697362478
|
|
|
NM_001040142.2(SCN2A):c.746C>T (p.Ser249Phe)
|
rs1559353186
|
|
|
NM_001040142.2(SCN2A):c.74T>C (p.Ile25Thr)
|
rs1366486532
|
|
|
NM_001040142.2(SCN2A):c.751G>T (p.Val251Phe)
|
|
|
|
NM_001040142.2(SCN2A):c.752T>C (p.Val251Ala)
|
rs2105247262
|
|
|
NM_001040142.2(SCN2A):c.754A>G (p.Met252Val)
|
rs387906687
|
|
|
NM_001040142.2(SCN2A):c.754A>T (p.Met252Leu)
|
rs387906687
|
|
|
NM_001040142.2(SCN2A):c.755T>C (p.Met252Thr)
|
rs1697363337
|
|
|
NM_001040142.2(SCN2A):c.761T>G (p.Leu254Trp)
|
|
|
|
NM_001040142.2(SCN2A):c.769T>A (p.Phe257Ile)
|
|
|
|
NM_001040142.2(SCN2A):c.773_776del (p.Phe257_Cys258insTer)
|
rs2105247288
|
|
|
NM_001040142.2(SCN2A):c.780C>T (p.Ser260=)
|
|
|
|
NM_001040142.2(SCN2A):c.781G>A (p.Val261Met)
|
rs1057520413
|
|
|
NM_001040142.2(SCN2A):c.787G>A (p.Ala263Thr)
|
rs1697364931
|
|
|
NM_001040142.2(SCN2A):c.787G>C (p.Ala263Pro)
|
rs1697364931
|
|
|
NM_001040142.2(SCN2A):c.788C>G (p.Ala263Gly)
|
|
|
|
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)
|
rs387906686
|
|
|
NM_001040142.2(SCN2A):c.792A>G (p.Leu264=)
|
|
|
|
NM_001040142.2(SCN2A):c.794T>C (p.Ile265Thr)
|
rs1697365527
|
|
|
NM_001040142.2(SCN2A):c.795A>C (p.Ile265=)
|
|
|
|
NM_001040142.2(SCN2A):c.7C>T (p.Gln3Ter)
|
rs1553564141
|
|
|
NM_001040142.2(SCN2A):c.802C>A (p.Gln268Lys)
|
|
|
|
NM_001040142.2(SCN2A):c.811A>G (p.Met271Val)
|
rs1553567946
|
|
|
NM_001040142.2(SCN2A):c.813G>C (p.Met271Ile)
|
rs1553567950
|
|
|
NM_001040142.2(SCN2A):c.816C>A (p.Gly272=)
|
rs2105247434
|
|
|
NM_001040142.2(SCN2A):c.81A>G (p.Gln27=)
|
rs1162322343
|
|
|
NM_001040142.2(SCN2A):c.823C>T (p.Arg275Ter)
|
rs181327458
|
|
|
NM_001040142.2(SCN2A):c.824G>A (p.Arg275Gln)
|
rs1697366992
|
|
|
NM_001040142.2(SCN2A):c.83G>A (p.Arg28His)
|
|
|
|
NM_001040142.2(SCN2A):c.841T>A (p.Trp281Arg)
|
|
|
|
NM_001040142.2(SCN2A):c.843G>A (p.Trp281Ter)
|
|
|
|
NM_001040142.2(SCN2A):c.847C>G (p.Pro283Ala)
|
rs765714006
|
|
|
NM_001040142.2(SCN2A):c.851A>G (p.Asp284Gly)
|
rs796053173
|
|
|
NM_001040142.2(SCN2A):c.854A>G (p.Asn285Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.854A>T (p.Asn285Ile)
|
|
|
|
NM_001040142.2(SCN2A):c.860_863dup (p.Glu289fs)
|
|
|
|
NM_001040142.2(SCN2A):c.874A>G (p.Ile292Val)
|
|
|
|
NM_001040142.2(SCN2A):c.876C>A (p.Ile292=)
|
|
|
|
NM_001040142.2(SCN2A):c.88G>A (p.Ala30Thr)
|
rs1337092354
|
|
|
NM_001040142.2(SCN2A):c.890A>G (p.Asn297Ser)
|
rs796053174
|
|
|
NM_001040142.2(SCN2A):c.893A>G (p.Asn298Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.8A>G (p.Gln3Arg)
|
|
|
|
NM_001040142.2(SCN2A):c.906G>T (p.Gly302=)
|
rs1697371206
|
|
|
NM_001040142.2(SCN2A):c.909T>C (p.Asn303=)
|
rs756068683
|
|
|
NM_001040142.2(SCN2A):c.911G>T (p.Gly304Val)
|
|
|
|
NM_001040142.2(SCN2A):c.913ACT[3] (p.Thr306dup)
|
rs1469280756
|
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|
NM_001040142.2(SCN2A):c.916A>T (p.Thr306Ser)
|
rs370114048
|
|
|
NM_001040142.2(SCN2A):c.921C>G (p.Phe307Leu)
|
rs1553568092
|
|
|
NM_001040142.2(SCN2A):c.924T>C (p.Asn308=)
|
|
|
|
NM_001040142.2(SCN2A):c.94G>A (p.Glu32Lys)
|
|
|
|
NM_001040142.2(SCN2A):c.962_970+1del
|
rs1559353540
|
|
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NM_001040142.2(SCN2A):c.966T>C (p.Asp322=)
|
|
|
|
NM_001040142.2(SCN2A):c.970+11C>G
|
|
|
|
NM_001040142.2(SCN2A):c.970+12T>C
|
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|
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NM_001040142.2(SCN2A):c.970+15A>G
|
|
|
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NM_001040142.2(SCN2A):c.970+20C>A
|
|
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NM_001040142.2(SCN2A):c.970+20C>G
|
rs190639791
|
|
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NM_001040142.2(SCN2A):c.970+8A>C
|
|
|
|
NM_001040142.2(SCN2A):c.970+8A>G
|
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NM_001040142.2(SCN2A):c.971-10C>G
|
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NM_001040142.2(SCN2A):c.971-20A>G
|
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|
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NM_001040142.2(SCN2A):c.971-6A>C
|
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NM_001040142.2(SCN2A):c.972T>C (p.Ser324=)
|
|
|
|
NM_001040142.2(SCN2A):c.974A>G (p.His325Arg)
|
rs2105251421
|
|
|
NM_001040142.2(SCN2A):c.985T>C (p.Leu329=)
|
|
|
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NM_001040142.2(SCN2A):c.986dup (p.Leu329fs)
|
rs2105251438
|
|
|
NM_001330260.2(SCN8A):c.1264C>A (p.Leu422Met)
|
rs2138748384
|
|
|
NM_001330260.2(SCN8A):c.1420C>T (p.Pro474Ser)
|
rs1160066733
|
|
|
NM_001330260.2(SCN8A):c.1676A>G (p.His559Arg)
|
|
|
|
NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile)
|
rs797045013
|
|
|
NM_001330260.2(SCN8A):c.2371-32A>C
|
rs303767
|
|
|
NM_001330260.2(SCN8A):c.2545-7dup
|
rs56879517
|
|
|
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
|
|
|
|
NM_001330260.2(SCN8A):c.2702A>G (p.Tyr901Cys)
|
rs1942829767
|
|
|
NM_001330260.2(SCN8A):c.2824_2825insA (p.Trp942Ter)
|
rs2138863024
|
|
|
NM_001330260.2(SCN8A):c.2901+2T>C
|
rs2138863154
|
|
|
NM_001330260.2(SCN8A):c.2935_2936delinsAA (p.Ser979Asn)
|
|
|
|
NM_001330260.2(SCN8A):c.2945C>T (p.Ala982Val)
|
rs1565917697
|
|
|
NM_001330260.2(SCN8A):c.2985C>A (p.Asn995Lys)
|
rs1942879102
|
|
|
NM_001330260.2(SCN8A):c.3245A>T (p.Asp1082Val)
|
rs2138868846
|
|
|
NM_001330260.2(SCN8A):c.3367A>C (p.Lys1123Gln)
|
rs1555226186
|
|
|
NM_001330260.2(SCN8A):c.3433G>A (p.Glu1145Lys)
|
rs1324401898
|
|
|
NM_001330260.2(SCN8A):c.3583G>A (p.Val1195Met)
|
rs1942911383
|
|
|
NM_001330260.2(SCN8A):c.3942+2_3942+5dup
|
rs764867016
|
|
|
NM_001330260.2(SCN8A):c.3944T>C (p.Val1315Ala)
|
rs1592162415
|
|
|
NM_001330260.2(SCN8A):c.4082C>G (p.Ser1361Cys)
|
|
|
|
NM_001330260.2(SCN8A):c.424A>G (p.Ile142Val)
|
rs2138711868
|
|
|
NM_001330260.2(SCN8A):c.4282-10C>G
|
rs369145855
|
|
|
NM_001330260.2(SCN8A):c.4441A>G (p.Met1481Val)
|
rs886041670
|
|
|
NM_001330260.2(SCN8A):c.4442T>A (p.Met1481Lys)
|
rs796053219
|
|
|
NM_001330260.2(SCN8A):c.4447G>A (p.Glu1483Lys)
|
rs879255652
|
|
|
NM_001330260.2(SCN8A):c.445A>G (p.Met149Val)
|
|
|
|
NM_001330260.2(SCN8A):c.4472C>T (p.Ala1491Val)
|
rs796053220
|
|
|
NM_001330260.2(SCN8A):c.4774G>T (p.Val1592Leu)
|
|
|
|
NM_001330260.2(SCN8A):c.4784T>C (p.Leu1595Pro)
|
|
|
|
NM_001330260.2(SCN8A):c.4841C>A (p.Thr1614Asn)
|
|
|
|
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)
|
|
|
|
NM_001330260.2(SCN8A):c.5307C>A (p.Phe1769Leu)
|
|
|
|
NM_001330260.2(SCN8A):c.5360C>A (p.Thr1787Asn)
|
rs1131691830
|
|
|
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=)
|
rs60637
|
|
|
NM_001330260.2(SCN8A):c.548G>C (p.Cys183Ser)
|
rs1941432230
|
|
|
NM_001330260.2(SCN8A):c.5499T>A (p.Asp1833Glu)
|
rs1198058104
|
|
|
NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr)
|
rs1064794727
|
|
|
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.5630A>G (p.Asn1877Ser)
|
rs587780455
|
|
|
NM_001330260.2(SCN8A):c.5740G>A (p.Gly1914Ser)
|
|
|
|
NM_001330260.2(SCN8A):c.5872C>T (p.Gln1958Ter)
|
rs1555231189
|
|
|
NM_001330260.2(SCN8A):c.5924T>C (p.Val1975Ala)
|
rs1565934813
|
|
|
NM_001330260.2(SCN8A):c.632T>G (p.Val211Gly)
|
rs1592380834
|
|
|
NM_001330260.2(SCN8A):c.677G>C (p.Arg226Pro)
|
|
|
|
NM_001330260.2(SCN8A):c.986A>G (p.Asp329Gly)
|
rs1592389210
|
|
|
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)
|
rs796052676
|
|
|
NM_014191.4(SCN8A):c.652G>T (p.Ala218Ser)
|
rs2138716131
|
|
|
NM_014191.4(SCN8A):c.676A>G (p.Arg226Gly)
|
rs1592380687
|
|
|
NM_014191.4(SCN8A):c.697G>A (p.Val233Ile)
|
rs1592380699
|
|
|
NM_032776.3(JMJD1C):c.1516C>G (p.Pro506Ala)
|
rs1847769670
|
|
|
NM_145239.3(PRRT2):c.-65-1G>A
|
rs1900052727
|
|
|
NM_145239.3(PRRT2):c.1001T>A (p.Ile334Asn)
|
|
|
|
NM_145239.3(PRRT2):c.107_110del (p.Gln36fs)
|
|
|
|
NM_145239.3(PRRT2):c.250del (p.Ala84fs)
|
rs2142423353
|
|
|
NM_145239.3(PRRT2):c.284C>A (p.Ser95Ter)
|
|
|
|
NM_145239.3(PRRT2):c.291del (p.Asn98fs)
|
rs730882073
|
|
|
NM_145239.3(PRRT2):c.304del (p.Glu102fs)
|
rs1567379016
|
|
|
NM_145239.3(PRRT2):c.341_342del (p.Val114fs)
|
rs1900077598
|
|
|
NM_145239.3(PRRT2):c.397del (p.Glu133fs)
|
|
|
|
NM_145239.3(PRRT2):c.436C>A (p.Pro146Thr)
|
rs1900084663
|
|
|
NM_145239.3(PRRT2):c.46G>T (p.Glu16Ter)
|
|
|
|
NM_145239.3(PRRT2):c.515_516del (p.Leu171_Ser172insTer)
|
|
|
|
NM_145239.3(PRRT2):c.565G>C (p.Ala189Pro)
|
|
|
|
NM_145239.3(PRRT2):c.629del (p.Pro210fs)
|
rs730882067
|
|
|
NM_145239.3(PRRT2):c.640delinsCC (p.Ala214fs)
|
|
|
|
NM_145239.3(PRRT2):c.647C>A (p.Pro216His)
|
rs76335820
|
|
|
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu)
|
rs76335820
|
|
|
NM_145239.3(PRRT2):c.649C>T (p.Arg217Ter)
|
rs77838305
|
|
|
NM_145239.3(PRRT2):c.649del (p.Arg217fs)
|
rs587778771
|
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
|
NM_145239.3(PRRT2):c.650del (p.Arg217fs)
|
rs730882124
|
|
|
NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter)
|
rs387907126
|
|
|
NM_145239.3(PRRT2):c.748C>T (p.Gln250Ter)
|
rs397514579
|
|
|
NM_145239.3(PRRT2):c.835C>G (p.Pro279Ala)
|
|
|
|
NM_145239.3(PRRT2):c.879+5G>A
|
rs1596893185
|
|
|
NM_145239.3(PRRT2):c.914G>A (p.Gly305Glu)
|
|
|
|
NM_145239.3(PRRT2):c.971del (p.Gly324fs)
|
rs796052941
|
|
|
NM_145239.3(PRRT2):c.971dup (p.Val325fs)
|
rs796052941
|
|
|
NM_145239.3(PRRT2):c.988G>A (p.Ala330Thr)
|
rs757132796
|
|