NC_000002.11:g.(?_166210682)_(166211201_?)del
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NC_000002.11:g.(?_166237239)_(166239066_?)del
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NC_000002.12:g.(?_165342276)_(165389844_?)del
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NM_001040142.2(SCN2A):c.1035-7A>G
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rs558800241
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NM_001040142.2(SCN2A):c.1058G>C (p.Cys353Ser)
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rs1697566111
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NM_001040142.2(SCN2A):c.1120T>C (p.Phe374Leu)
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rs1697569337
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NM_001040142.2(SCN2A):c.1135C>T (p.Arg379Cys)
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NM_001040142.2(SCN2A):c.1136G>A (p.Arg379His)
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rs2105255398
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NM_001040142.2(SCN2A):c.1148A>T (p.Gln383Leu)
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rs2105255430
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NM_001040142.2(SCN2A):c.1199C>G (p.Thr400Arg)
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NM_001040142.2(SCN2A):c.1255T>A (p.Leu419Met)
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rs1697584614
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NM_001040142.2(SCN2A):c.1271T>C (p.Val424Ala)
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rs796053181
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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.1283A>T (p.Tyr428Phe)
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rs796053182
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NM_001040142.2(SCN2A):c.1289A>G (p.Glu430Gly)
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rs796053183
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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.1563_1564del (p.Asp521fs)
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rs1553569739
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NM_001040142.2(SCN2A):c.1570C>T (p.Arg524Ter)
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rs1553569754
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NM_001040142.2(SCN2A):c.1635del (p.Arg545fs)
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NM_001040142.2(SCN2A):c.1672-2A>G
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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.1871dup (p.Asn624fs)
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NM_001040142.2(SCN2A):c.1912del (p.Leu638fs)
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NM_001040142.2(SCN2A):c.1A>T (p.Met1Leu)
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rs1553564139
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NM_001040142.2(SCN2A):c.2187G>A (p.Trp729Ter)
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NM_001040142.2(SCN2A):c.2287del (p.Leu763fs)
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NM_001040142.2(SCN2A):c.2305A>G (p.Ile769Val)
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rs1698670041
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NM_001040142.2(SCN2A):c.2380G>A (p.Gly794Arg)
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NM_001040142.2(SCN2A):c.2501G>A (p.Ser834Asn)
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rs1699364791
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NM_001040142.2(SCN2A):c.2528T>A (p.Val843Glu)
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rs1574636716
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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.2620A>G (p.Ile874Val)
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rs1699475919
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NM_001040142.2(SCN2A):c.2638G>A (p.Ala880Thr)
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rs1574641522
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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.2674G>A (p.Val892Ile)
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rs121917751
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NM_001040142.2(SCN2A):c.2674G>T (p.Val892Phe)
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NM_001040142.2(SCN2A):c.2680_2686delinsCTTTTTT (p.Ile894_Ala896delinsLeuPheSer)
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rs2105318837
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NM_001040142.2(SCN2A):c.2696G>A (p.Gly899Asp)
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rs796053121
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NM_001040142.2(SCN2A):c.2715G>T (p.Lys905Asn)
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NM_001040142.2(SCN2A):c.2765G>A (p.Arg922His)
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rs1057518048
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NM_001040142.2(SCN2A):c.2774T>C (p.Met925Thr)
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rs1057518373
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NM_001040142.2(SCN2A):c.2810G>A (p.Arg937His)
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rs1553579488
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NM_001040142.2(SCN2A):c.2872A>G (p.Met958Val)
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rs2105319172
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NM_001040142.2(SCN2A):c.2893_2901del (p.Met965_Met967del)
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rs2105319200
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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.2916_2917delinsTT (p.Val973Leu)
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rs2105319230
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NM_001040142.2(SCN2A):c.2926A>C (p.Asn976His)
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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.2934C>A (p.Phe978Leu)
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NM_001040142.2(SCN2A):c.2936T>G (p.Leu979Trp)
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rs1553583544
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NM_001040142.2(SCN2A):c.2950A>G (p.Ser984Gly)
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rs1700069881
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NM_001040142.2(SCN2A):c.2959A>T (p.Ser987Cys)
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rs2105336842
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NM_001040142.2(SCN2A):c.2960G>T (p.Ser987Ile)
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rs796053124
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NM_001040142.2(SCN2A):c.2983GAT[2] (p.Asp997del)
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rs1700070748
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NM_001040142.2(SCN2A):c.2986G>A (p.Asp996Asn)
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rs2105336868
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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.3217G>T (p.Gly1073Ter)
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rs1553584053
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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.3423_3424delinsCT (p.Glu1142Ter)
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NM_001040142.2(SCN2A):c.3520+1G>T
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NM_001040142.2(SCN2A):c.3626G>A (p.Trp1209Ter)
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NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys)
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rs387906684
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NM_001040142.2(SCN2A):c.3634A>C (p.Thr1212Pro)
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rs1700783234
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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.3823T>C (p.Cys1275Arg)
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rs2105365343
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NM_001040142.2(SCN2A):c.3839T>C (p.Leu1280Pro)
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NM_001040142.2(SCN2A):c.3928G>C (p.Ala1310Pro)
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rs1701139863
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NM_001040142.2(SCN2A):c.3935G>C (p.Arg1312Thr)
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NM_001040142.2(SCN2A):c.3955C>T (p.Arg1319Trp)
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rs190111194
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NM_001040142.2(SCN2A):c.3956G>C (p.Arg1319Pro)
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NM_001040142.2(SCN2A):c.3961G>C (p.Glu1321Gln)
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NM_001040142.2(SCN2A):c.3973-2A>G
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rs1701219319
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NM_001040142.2(SCN2A):c.3986C>G (p.Ala1329Gly)
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rs1553593578
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NM_001040142.2(SCN2A):c.3988C>T (p.Leu1330Phe)
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rs121917749
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NM_001040142.2(SCN2A):c.4012A>G (p.Met1338Val)
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NM_001040142.2(SCN2A):c.4037T>A (p.Ile1346Asn)
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rs1483179196
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NM_001040142.2(SCN2A):c.4069A>T (p.Asn1357Tyr)
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rs2105373101
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NM_001040142.2(SCN2A):c.4096T>C (p.Cys1366Arg)
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NM_001040142.2(SCN2A):c.4123T>G (p.Phe1375Val)
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rs1308555812
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NM_001040142.2(SCN2A):c.4192T>A (p.Trp1398Arg)
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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.4255-6T>A
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rs1701381827
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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.4295_4297del (p.Val1432del)
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NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter)
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rs796053138
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NM_001040142.2(SCN2A):c.4309-2A>G
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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.4391C>T (p.Thr1464Ile)
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rs1701553334
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NM_001040142.2(SCN2A):c.4418T>C (p.Ile1473Thr)
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rs1085307898
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NM_001040142.2(SCN2A):c.4426T>A (p.Phe1476Ile)
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NM_001040142.2(SCN2A):c.4434A>C (p.Gln1478His)
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NM_001040142.2(SCN2A):c.4435C>A (p.Gln1479Lys)
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rs1553462134
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NM_001040142.2(SCN2A):c.4437G>C (p.Gln1479His)
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rs2105384764
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NM_001040142.2(SCN2A):c.4439A>G (p.Lys1480Arg)
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rs1574731380
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NM_001040142.2(SCN2A):c.4451G>A (p.Gly1484Glu)
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rs2105385669
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NM_001040142.2(SCN2A):c.4462A>G (p.Ile1488Val)
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rs2105385694
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NM_001040142.2(SCN2A):c.4466T>G (p.Phe1489Cys)
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rs1701579531
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NM_001040142.2(SCN2A):c.4470G>C (p.Met1490Ile)
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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.4493A>C (p.Tyr1498Ser)
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rs1558879863
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NM_001040142.2(SCN2A):c.4494C>G (p.Tyr1498Ter)
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NM_001040142.2(SCN2A):c.4499C>T (p.Ala1500Val)
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NM_001040142.2(SCN2A):c.4501A>G (p.Met1501Val)
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rs2105385817
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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.4503G>A (p.Met1501Ile)
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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.4514del (p.Gly1505fs)
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rs1701581960
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NM_001040142.2(SCN2A):c.4551+5G>A
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NM_001040142.2(SCN2A):c.4552-2A>G
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NM_001040142.2(SCN2A):c.4579_4602del (p.Phe1527_Asp1534del)
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rs2105398203
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NM_001040142.2(SCN2A):c.4596del (p.Phe1533fs)
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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.4614G>T (p.Met1538Ile)
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rs1553463042
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NM_001040142.2(SCN2A):c.4622T>A (p.Ile1541Asn)
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NM_001040142.2(SCN2A):c.4643T>C (p.Met1548Thr)
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rs1057519524
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NM_001040142.2(SCN2A):c.4644G>C (p.Met1548Ile)
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rs1574746759
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NM_001040142.2(SCN2A):c.4652A>C (p.Glu1551Ala)
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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.4822+1G>A
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NM_001040142.2(SCN2A):c.4841T>C (p.Leu1614Pro)
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rs797045943
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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)
|
rs796053155
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NM_001040142.2(SCN2A):c.4880T>C (p.Val1627Ala)
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rs1702003246
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NM_001040142.2(SCN2A):c.4885C>T (p.Arg1629Cys)
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rs1702003567
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NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
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NM_001040142.2(SCN2A):c.4895G>T (p.Arg1632Met)
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rs796053158
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NM_001040142.2(SCN2A):c.4896_4897insT (p.Ile1633fs)
|
rs1702004667
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NM_001040142.2(SCN2A):c.4904G>A (p.Arg1635Gln)
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rs1057520844
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NM_001040142.2(SCN2A):c.4907T>A (p.Ile1636Asn)
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NM_001040142.2(SCN2A):c.4908C>G (p.Ile1636Met)
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rs796053160
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NM_001040142.2(SCN2A):c.4918A>C (p.Ile1640Leu)
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NM_001040142.2(SCN2A):c.4918A>T (p.Ile1640Phe)
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rs1702006673
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NM_001040142.2(SCN2A):c.4949T>C (p.Leu1650Pro)
|
rs1702008435
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NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val)
|
rs1060503101
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NM_001040142.2(SCN2A):c.4984A>G (p.Asn1662Asp)
|
rs1702009644
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NM_001040142.2(SCN2A):c.4988T>C (p.Ile1663Thr)
|
rs2105402379
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NM_001040142.2(SCN2A):c.4989del (p.Ile1663fs)
|
rs1702009872
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NM_001040142.2(SCN2A):c.5017A>T (p.Ile1673Phe)
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NM_001040142.2(SCN2A):c.5231G>A (p.Gly1744Glu)
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NM_001040142.2(SCN2A):c.5306A>G (p.Asn1769Ser)
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NM_001040142.2(SCN2A):c.5311T>A (p.Tyr1771Asn)
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NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr)
|
rs796053162
|
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NM_001040142.2(SCN2A):c.5318C>T (p.Ala1773Val)
|
rs1553463602
|
|
NM_001040142.2(SCN2A):c.5333A>T (p.Asn1778Ile)
|
rs1574752700
|
|
NM_001040142.2(SCN2A):c.5339G>T (p.Ser1780Ile)
|
rs796053163
|
|
NM_001040142.2(SCN2A):c.5408A>G (p.Glu1803Gly)
|
|
|
NM_001040142.2(SCN2A):c.5408A>T (p.Glu1803Val)
|
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|
NM_001040142.2(SCN2A):c.5433G>C (p.Gln1811His)
|
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NM_001040142.2(SCN2A):c.5616G>C (p.Met1872Ile)
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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.5660A>C (p.Asn1887Thr)
|
rs2105403619
|
|
NM_001040142.2(SCN2A):c.5670A>C (p.Lys1890Asn)
|
rs1702039582
|
|
NM_001040142.2(SCN2A):c.586T>G (p.Phe196Val)
|
rs2105243497
|
|
NM_001040142.2(SCN2A):c.593T>A (p.Val198Asp)
|
rs1697272829
|
|
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
|
|
|
NM_001040142.2(SCN2A):c.629T>A (p.Leu210Gln)
|
rs1559352517
|
|
NM_001040142.2(SCN2A):c.632G>A (p.Gly211Asp)
|
rs1697311700
|
|
NM_001040142.2(SCN2A):c.635A>G (p.Asn212Ser)
|
rs2105244912
|
|
NM_001040142.2(SCN2A):c.647T>C (p.Leu216Ser)
|
|
|
NM_001040142.2(SCN2A):c.664C>A (p.Leu222Ile)
|
rs2105245017
|
|
NM_001040142.2(SCN2A):c.668G>A (p.Arg223Gln)
|
rs121917752
|
|
NM_001040142.2(SCN2A):c.685T>G (p.Ser229Ala)
|
rs1553567561
|
|
NM_001040142.2(SCN2A):c.710T>A (p.Ile237Asn)
|
rs1697360061
|
|
NM_001040142.2(SCN2A):c.710T>C (p.Ile237Thr)
|
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|
NM_001040142.2(SCN2A):c.718G>A (p.Ala240Thr)
|
rs1064795014
|
|
NM_001040142.2(SCN2A):c.722T>G (p.Leu241Arg)
|
|
|
NM_001040142.2(SCN2A):c.751G>A (p.Val251Ile)
|
rs1057519528
|
|
NM_001040142.2(SCN2A):c.751G>T (p.Val251Phe)
|
|
|
NM_001040142.2(SCN2A):c.785T>C (p.Phe262Ser)
|
rs1697364805
|
|
NM_001040142.2(SCN2A):c.788C>A (p.Ala263Glu)
|
rs387906686
|
|
NM_001040142.2(SCN2A):c.788C>G (p.Ala263Gly)
|
|
|
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)
|
rs387906686
|
|
NM_001040142.2(SCN2A):c.819C>A (p.Asn273Lys)
|
|
|
NM_001040142.2(SCN2A):c.83G>A (p.Arg28His)
|
|
|
NM_001040142.2(SCN2A):c.843G>A (p.Trp281Ter)
|
|
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NM_001040142.2(SCN2A):c.971-1G>A
|
rs2105251415
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NM_001371246.1(SCN2A):c.634A>G (p.Asn212Asp)
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rs1553567473
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