NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala)
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rs184769423
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0.00032
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NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys)
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rs139899756
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0.00011
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NM_001040142.2(SCN2A):c.1027G>C (p.Asp343His)
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rs796053175
|
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NM_001040142.2(SCN2A):c.106A>G (p.Arg36Gly)
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rs796053167
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NM_001040142.2(SCN2A):c.1199C>G (p.Thr400Arg)
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NM_001040142.2(SCN2A):c.1283A>G (p.Tyr428Cys)
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rs796053182
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NM_001040142.2(SCN2A):c.1289A>C (p.Glu430Ala)
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rs796053183
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NM_001040142.2(SCN2A):c.1456_1457del (p.Ser486fs)
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rs1697695664
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NM_001040142.2(SCN2A):c.1528C>T (p.Gln510Ter)
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rs1553569659
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NM_001040142.2(SCN2A):c.167T>A (p.Leu56Ter)
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rs1553564213
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NM_001040142.2(SCN2A):c.1819C>T (p.Arg607Ter)
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rs746060762
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NM_001040142.2(SCN2A):c.2134A>T (p.Thr712Ser)
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rs1698389721
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NM_001040142.2(SCN2A):c.2388+1G>A
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rs1698674881
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NM_001040142.2(SCN2A):c.252C>A (p.Tyr84Ter)
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rs143065769
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NM_001040142.2(SCN2A):c.2538G>T (p.Leu846Phe)
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rs1699366355
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NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln)
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rs794727152
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NM_001040142.2(SCN2A):c.2567G>A (p.Arg856Gln)
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rs797045942
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NM_001040142.2(SCN2A):c.2622_2631del (p.Ile874fs)
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rs1064793850
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NM_001040142.2(SCN2A):c.2635G>A (p.Gly879Arg)
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rs796053115
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NM_001040142.2(SCN2A):c.2638G>T (p.Ala880Ser)
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rs1574641522
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NM_001040142.2(SCN2A):c.2642T>C (p.Leu881Pro)
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rs796053116
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NM_001040142.2(SCN2A):c.2645G>A (p.Gly882Glu)
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rs1553579305
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NM_001040142.2(SCN2A):c.2809C>T (p.Arg937Cys)
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rs796053197
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NM_001040142.2(SCN2A):c.2852T>G (p.Met951Arg)
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rs1218362168
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NM_001040142.2(SCN2A):c.2877C>A (p.Cys959Ter)
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rs746163041
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NM_001040142.2(SCN2A):c.2894T>G (p.Met965Arg)
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rs1699489239
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NM_001040142.2(SCN2A):c.2932T>C (p.Phe978Leu)
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rs1700068946
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NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys)
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rs796053126
|
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NM_001040142.2(SCN2A):c.304C>T (p.Arg102Ter)
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rs387906683
|
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NM_001040142.2(SCN2A):c.3107_3108delinsG (p.Leu1036fs)
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rs1700077715
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NM_001040142.2(SCN2A):c.3149A>T (p.Asp1050Val)
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rs1700079624
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NM_001040142.2(SCN2A):c.3217G>T (p.Gly1073Ter)
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rs1553584053
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NM_001040142.2(SCN2A):c.3374del (p.Glu1125fs)
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rs587780450
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NM_001040142.2(SCN2A):c.3391del (p.Ser1131fs)
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rs1064796203
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NM_001040142.2(SCN2A):c.3399G>C (p.Glu1133Asp)
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rs1700091023
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NM_001040142.2(SCN2A):c.3464_3468del (p.Glu1155fs)
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rs1574691534
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NM_001040142.2(SCN2A):c.3734C>T (p.Ala1245Val)
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rs768796023
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NM_001040142.2(SCN2A):c.3778A>C (p.Lys1260Gln)
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rs1553591813
|
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NM_001040142.2(SCN2A):c.3778A>G (p.Lys1260Glu)
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rs1553591813
|
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NM_001040142.2(SCN2A):c.386+2T>C
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rs1553564400
|
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NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
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|
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NM_001040142.2(SCN2A):c.3956G>T (p.Arg1319Leu)
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rs121917753
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NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala)
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rs1574716488
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NM_001040142.2(SCN2A):c.4264A>G (p.Lys1422Glu)
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rs796053137
|
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NM_001040142.2(SCN2A):c.4308+1G>A
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rs886039648
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NM_001040142.2(SCN2A):c.4308+2T>C
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rs1553461672
|
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NM_001040142.2(SCN2A):c.4369ATT[1] (p.Ile1458del)
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rs796053193
|
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NM_001040142.2(SCN2A):c.4406_4409delinsATGT (p.Ile1469_Gly1470delinsAsnVal)
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rs1701554261
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NM_001040142.2(SCN2A):c.4489TAC[1] (p.Tyr1498del)
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rs1701580892
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NM_001040142.2(SCN2A):c.4494del (p.Tyr1497_Tyr1498insTer)
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rs1553462224
|
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NM_001040142.2(SCN2A):c.4502T>C (p.Met1501Thr)
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rs1553462227
|
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NM_001040142.2(SCN2A):c.4506A>T (p.Lys1502Asn)
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rs1701581615
|
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NM_001040142.2(SCN2A):c.4591C>T (p.Gln1531Ter)
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rs1553463032
|
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NM_001040142.2(SCN2A):c.4610_4614delinsGCATC (p.Ile1537_Met1538delinsSerIle)
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rs796053195
|
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NM_001040142.2(SCN2A):c.4726G>A (p.Gly1576Arg)
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rs869312664
|
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NM_001040142.2(SCN2A):c.4727del (p.Gly1576fs)
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rs1553463096
|
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NM_001040142.2(SCN2A):c.4777G>A (p.Gly1593Arg)
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rs886041259
|
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NM_001040142.2(SCN2A):c.4801G>T (p.Val1601Leu)
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rs1553463140
|
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NM_001040142.2(SCN2A):c.4844_4845del (p.Ile1615fs)
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rs1574751309
|
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NM_001040142.2(SCN2A):c.4877G>A (p.Arg1626Gln)
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rs796053155
|
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NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
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|
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NM_001040142.2(SCN2A):c.4896_4897insT (p.Ile1633fs)
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rs1702004667
|
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NM_001040142.2(SCN2A):c.4904G>A (p.Arg1635Gln)
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rs1057520844
|
|
NM_001040142.2(SCN2A):c.4949T>C (p.Leu1650Pro)
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rs1702008435
|
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NM_001040142.2(SCN2A):c.4972C>T (p.Pro1658Ser)
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rs1702009188
|
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NM_001040142.2(SCN2A):c.4984A>G (p.Asn1662Asp)
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rs1702009644
|
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NM_001040142.2(SCN2A):c.4996C>T (p.Leu1666Phe)
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rs1553463466
|
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NM_001040142.2(SCN2A):c.5272A>C (p.Ser1758Arg)
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rs1064794005
|
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NM_001040142.2(SCN2A):c.5318C>A (p.Ala1773Glu)
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rs1553463602
|
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NM_001040142.2(SCN2A):c.5318C>T (p.Ala1773Val)
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rs1553463602
|
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NM_001040142.2(SCN2A):c.5333A>T (p.Asn1778Ile)
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rs1574752700
|
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NM_001040142.2(SCN2A):c.5339G>T (p.Ser1780Ile)
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rs796053163
|
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NM_001040142.2(SCN2A):c.5551C>T (p.Arg1851Trp)
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rs1553463718
|
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NM_001040142.2(SCN2A):c.5623C>T (p.Leu1875Phe)
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rs1553463764
|
|
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln)
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rs794727444
|
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NM_001040142.2(SCN2A):c.593T>A (p.Val198Asp)
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rs1697272829
|
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NM_001040142.2(SCN2A):c.605+1G>A
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|
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NM_001040142.2(SCN2A):c.605+1G>T
|
rs796053171
|
|
NM_001040142.2(SCN2A):c.632G>A (p.Gly211Asp)
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rs1697311700
|
|
NM_001040142.2(SCN2A):c.710T>A (p.Ile237Asn)
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rs1697360061
|
|
NM_001040142.2(SCN2A):c.716G>T (p.Gly239Val)
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rs1697360374
|
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NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)
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rs387906686
|
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NM_001040142.2(SCN2A):c.823C>T (p.Arg275Ter)
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rs181327458
|
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NM_001371246.1(SCN2A):c.647T>A (p.Leu216His)
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rs1697299021
|
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