NC_000002.12:g.(?_165985812)_(166002754_166009718)del
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NM_001165963.4(SCN1A):c.3106C>T (p.Gln1036Ter)
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rs542420576
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NM_001165963.4(SCN1A):c.3124C>T (p.Gln1042Ter)
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rs1553540342
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NM_001165963.4(SCN1A):c.3173_3176del (p.Lys1058fs)
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rs1696358124
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NM_001165963.4(SCN1A):c.3182del (p.Cys1061fs)
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NM_001165963.4(SCN1A):c.3306C>A (p.Tyr1102Ter)
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rs863225032
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NM_001165963.4(SCN1A):c.3311C>G (p.Ser1104Ter)
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rs1574168611
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NM_001165963.4(SCN1A):c.3439G>T (p.Glu1147Ter)
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rs794726733
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NM_001165963.4(SCN1A):c.3455C>A (p.Ser1152Ter)
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rs794726728
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NM_001165963.4(SCN1A):c.3477del (p.Ile1159fs)
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rs794726729
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NM_001165963.4(SCN1A):c.3487del (p.Pro1162_Val1163insTer)
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rs794726774
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NM_001165963.4(SCN1A):c.3496C>T (p.Gln1166Ter)
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rs368609628
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NM_001165963.4(SCN1A):c.3531_3534dup (p.Ala1179fs)
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rs1574069132
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NM_001165963.4(SCN1A):c.3550+1G>A
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rs794726836
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NM_001165963.4(SCN1A):c.3609del (p.Gln1203fs)
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rs1574061044
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NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter)
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rs1559149128
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NM_001165963.4(SCN1A):c.3612G>A (p.Trp1204Ter)
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rs1553532671
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NM_001165963.4(SCN1A):c.3615G>A (p.Trp1205Ter)
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rs794726720
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NM_001165963.4(SCN1A):c.3629C>A (p.Thr1210Lys)
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rs121918738
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NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)
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rs794726710
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NM_001165963.4(SCN1A):c.3657G>A (p.Trp1219Ter)
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rs863225033
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NM_001165963.4(SCN1A):c.3661G>C (p.Glu1221Gln)
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rs794726854
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NM_001165963.4(SCN1A):c.3690dup (p.Ser1231Ter)
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rs1057519534
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NM_001165963.4(SCN1A):c.3704del (p.Leu1235fs)
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rs869312670
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NM_001165963.4(SCN1A):c.3705+1G>A
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rs794726744
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NM_001165963.4(SCN1A):c.3705+2T>A
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rs794726735
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NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro)
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rs794726770
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NM_001165963.4(SCN1A):c.3726_3727insAT (p.Asp1243fs)
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rs794726706
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NM_001165963.4(SCN1A):c.3730C>T (p.Gln1244Ter)
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rs794726727
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NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter)
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rs727504136
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NM_001165963.4(SCN1A):c.3757G>T (p.Glu1253Ter)
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rs794726817
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NM_001165963.4(SCN1A):c.3757_3763dup (p.Ala1255fs)
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rs1574052179
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NM_001165963.4(SCN1A):c.3763G>C (p.Ala1255Pro)
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rs777939538
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NM_001165963.4(SCN1A):c.3778A>C (p.Thr1260Pro)
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rs121918739
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NM_001165963.4(SCN1A):c.3802_3812del (p.Leu1268fs)
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rs794726709
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NM_001165963.4(SCN1A):c.3818C>T (p.Ala1273Val)
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rs794726841
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NM_001165963.4(SCN1A):c.3821A>C (p.Tyr1274Ser)
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rs794726852
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NM_001165963.4(SCN1A):c.3828T>A (p.Tyr1276Ter)
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rs794726731
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NM_001165963.4(SCN1A):c.3837T>G (p.Tyr1279Ter)
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NM_001165963.4(SCN1A):c.3852del (p.Trp1284fs)
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rs863225034
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NM_001165963.4(SCN1A):c.3858G>A (p.Trp1286Ter)
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rs794726853
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NM_001165963.4(SCN1A):c.3860T>C (p.Leu1287Pro)
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rs121918740
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NM_001165963.4(SCN1A):c.3879+1G>T
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rs794726700
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NM_001165963.4(SCN1A):c.3880-2A>G
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rs794726816
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NM_001165963.4(SCN1A):c.3880-2_3880-1del
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NM_001165963.4(SCN1A):c.3899C>G (p.Thr1300Arg)
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rs146878122
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NM_001165963.4(SCN1A):c.3944_3945del (p.Leu1315fs)
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rs1692166604
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NM_001165963.4(SCN1A):c.3970_3971dup (p.Leu1324_Arg1325insTer)
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rs794726723
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NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter)
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rs796053004
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NM_001165963.4(SCN1A):c.4002+1195_4284+346delinsTATT
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NM_001165963.4(SCN1A):c.4002+1G>T
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rs1692153643
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NM_001165963.4(SCN1A):c.4002+2451G>C
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rs869312684
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NM_001165963.4(SCN1A):c.4003-1G>A
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rs1574007140
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NM_001165963.4(SCN1A):c.4003G>A (p.Val1335Met)
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rs121917960
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NM_001165963.4(SCN1A):c.4016C>T (p.Ala1339Val)
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rs794726789
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NM_001165963.4(SCN1A):c.4044G>A (p.Met1348Ile)
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rs794726822
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NM_001165963.4(SCN1A):c.4055T>C (p.Leu1352Pro)
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rs794726821
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NM_001165963.4(SCN1A):c.4086C>G (p.Ser1362Arg)
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rs794726779
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NM_001165963.4(SCN1A):c.4088T>A (p.Ile1363Asn)
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rs794726707
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NM_001165963.4(SCN1A):c.4094G>A (p.Gly1365Asp)
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rs1691073965
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NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met)
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rs121917986
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NM_001165963.4(SCN1A):c.4168G>C (p.Val1390Leu)
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rs121917986
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NM_001165963.4(SCN1A):c.4178A>C (p.His1393Pro)
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NM_001165963.4(SCN1A):c.4188C>A (p.Cys1396Ter)
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rs794726745
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NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter)
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rs398123593
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NM_001165963.4(SCN1A):c.4223G>A (p.Trp1408Ter)
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rs794726784
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NM_001165963.4(SCN1A):c.4244_4245del (p.Asn1414_Phe1415insTer)
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rs794726705
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NM_001165963.4(SCN1A):c.4266T>A (p.Tyr1422Ter)
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rs863225035
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NM_001165963.4(SCN1A):c.4279C>T (p.Gln1427Ter)
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NM_001165963.4(SCN1A):c.4284+1G>A
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rs1553524865
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NM_001165963.4(SCN1A):c.4298G>A (p.Gly1433Glu)
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rs121918741
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NM_001165963.4(SCN1A):c.4302G>A (p.Trp1434Ter)
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rs794726699
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NM_001165963.4(SCN1A):c.4318G>A (p.Ala1440Thr)
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rs2105486716
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NM_001165963.4(SCN1A):c.4338+4A>C
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rs794726734
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NM_001165963.4(SCN1A):c.4351C>A (p.Pro1451Thr)
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rs794726696
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NM_001165963.4(SCN1A):c.4378del (p.Tyr1460fs)
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rs2105476550
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NM_001165963.4(SCN1A):c.4380T>A (p.Tyr1460Ter)
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NM_001165963.4(SCN1A):c.4412C>T (p.Ser1471Phe)
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rs794726809
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NM_001165963.4(SCN1A):c.4418T>C (p.Phe1473Ser)
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NM_001165963.4(SCN1A):c.4423T>G (p.Leu1475Val)
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rs2105476084
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NM_001165963.4(SCN1A):c.4428C>A (p.Asn1476Lys)
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rs1573984110
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NM_001165963.4(SCN1A):c.4476+1A>G
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rs796053014
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NM_001165963.4(SCN1A):c.4477-2A>G
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rs863225036
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NM_001165963.4(SCN1A):c.4511del (p.Gln1504fs)
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NM_001165963.4(SCN1A):c.4539dup (p.Leu1514fs)
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rs1573973548
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NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter)
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rs139300715
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NM_001165963.4(SCN1A):c.4547C>G (p.Ser1516Trp)
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rs139300715
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NM_001165963.4(SCN1A):c.4549A>T (p.Lys1517Ter)
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rs794726835
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NM_001165963.4(SCN1A):c.4554del (p.Lys1518fs)
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rs794726825
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NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter)
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rs794726752
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NM_001165963.4(SCN1A):c.4581+1G>A
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rs1689986058
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NM_001165963.4(SCN1A):c.4611_4645dup (p.Ile1549delinsThrTer)
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rs794726757
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NM_001165963.4(SCN1A):c.4704T>A (p.Tyr1568Ter)
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rs1573963975
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NM_001165963.4(SCN1A):c.4757G>A (p.Gly1586Glu)
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rs121918742
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NM_001165963.4(SCN1A):c.4766T>G (p.Val1589Gly)
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rs764037830
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NM_001165963.4(SCN1A):c.4769T>C (p.Leu1590Pro)
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NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys)
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rs121917993
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NM_001165963.4(SCN1A):c.4789_4792del (p.His1597fs)
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rs1689680658
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NM_001165963.4(SCN1A):c.4811G>A (p.Trp1604Ter)
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rs794726800
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NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr)
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rs121917915
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NM_001165963.4(SCN1A):c.4823del (p.Asp1608fs)
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rs794726785
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NM_001165963.4(SCN1A):c.4829_4830dup (p.Val1611fs)
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rs794726850
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NM_001165963.4(SCN1A):c.4831G>T (p.Val1611Phe)
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rs121918630
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NM_001165963.4(SCN1A):c.4853-1G>C
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rs1553520530
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NM_001165963.4(SCN1A):c.4879_4883dup (p.Tyr1628Ter)
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rs794726701
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NM_001165963.4(SCN1A):c.4884T>A (p.Tyr1628Ter)
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NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter)
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rs199727342
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NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln)
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rs121917995
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NM_001165963.4(SCN1A):c.4915C>G (p.Arg1639Gly)
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rs1573953030
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NM_001165963.4(SCN1A):c.4933C>T (p.Arg1645Ter)
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rs794726759
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NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln)
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rs121917976
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NM_001165963.4(SCN1A):c.4934G>C (p.Arg1645Pro)
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rs121917976
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NM_001165963.4(SCN1A):c.4942C>T (p.Arg1648Cys)
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rs121918791
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NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met)
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rs121917922
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NM_001165963.4(SCN1A):c.4985C>T (p.Ala1662Val)
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rs794726839
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NM_001165963.4(SCN1A):c.4993_4996dup (p.Ser1666fs)
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rs794726819
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NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe)
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rs794726760
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NM_001165963.4(SCN1A):c.5003C>G (p.Pro1668Arg)
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rs794726698
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NM_001165963.4(SCN1A):c.5003del (p.Pro1668fs)
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rs794726758
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NM_001165963.4(SCN1A):c.5006C>A (p.Ala1669Glu)
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rs397514458
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NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs)
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rs794726754
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NM_001165963.4(SCN1A):c.5014A>C (p.Asn1672His)
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rs794726740
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NM_001165963.4(SCN1A):c.5063G>T (p.Gly1688Val)
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rs794726851
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NM_001165963.4(SCN1A):c.5082T>G (p.Tyr1694Ter)
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rs794726748
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NM_001165963.4(SCN1A):c.5087del (p.Lys1696fs)
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rs1689309551
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NM_001165963.4(SCN1A):c.5106T>A (p.Asp1702Glu)
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rs794726804
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NM_001165963.4(SCN1A):c.5108A>T (p.Asp1703Val)
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rs794726802
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NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile)
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rs121918629
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NM_001165963.4(SCN1A):c.5217del (p.Asp1740fs)
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rs1573949198
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NM_001165963.4(SCN1A):c.5222G>A (p.Cys1741Tyr)
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rs794726763
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NM_001165963.4(SCN1A):c.5250_5251insGG (p.Ser1751fs)
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rs794726702
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NM_001165963.4(SCN1A):c.5250_5252del (p.Ser1750_Ser1751delinsArg)
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rs794726703
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NM_001165963.4(SCN1A):c.5264A>G (p.Asp1755Gly)
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rs794726722
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NM_001165963.4(SCN1A):c.5284_5291dup (p.Phe1764fs)
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rs794726814
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NM_001165963.4(SCN1A):c.5285G>A (p.Gly1762Glu)
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rs121917950
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NM_001165963.4(SCN1A):c.5294T>C (p.Phe1765Ser)
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NM_001165963.4(SCN1A):c.5297_5298del (p.Phe1766fs)
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rs794726832
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NM_001165963.4(SCN1A):c.5300T>A (p.Val1767Asp)
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rs2105429648
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NM_001165963.4(SCN1A):c.5334del (p.Asn1779fs)
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rs794726783
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NM_001165963.4(SCN1A):c.5343del (p.Met1780_Tyr1781insTer)
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rs1689241423
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NM_001165963.4(SCN1A):c.5346C>G (p.Ile1782Met)
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rs121918763
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NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr)
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rs121917980
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NM_001165963.4(SCN1A):c.5348C>T (p.Ala1783Val)
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rs121917921
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NM_001165963.4(SCN1A):c.5349_5352dup (p.Ile1785fs)
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rs794726741
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|
NM_001165963.4(SCN1A):c.5404G>T (p.Glu1802Ter)
|
rs794726780
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|
NM_001165963.4(SCN1A):c.5436G>A (p.Trp1812Ter)
|
rs863225037
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NM_001165963.4(SCN1A):c.5461C>T (p.Gln1821Ter)
|
rs794726781
|
|
NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr)
|
rs1559101839
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|
NM_001165963.4(SCN1A):c.5470G>T (p.Glu1824Ter)
|
rs794726769
|
|
NM_001165963.4(SCN1A):c.5488C>T (p.Gln1830Ter)
|
rs1553520103
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|
NM_001165963.4(SCN1A):c.5489dup (p.Phe1831fs)
|
rs1573945872
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|
NM_001165963.4(SCN1A):c.5515C>G (p.Leu1839Val)
|
rs794726801
|
|
NM_001165963.4(SCN1A):c.5536A>T (p.Lys1846Ter)
|
rs372098964
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NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs)
|
rs794726726
|
|
NM_001165963.4(SCN1A):c.5540_5543dup (p.Gln1848fs)
|
rs2105426446
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|
NM_001165963.4(SCN1A):c.5555T>C (p.Met1852Thr)
|
rs121918783
|
|
NM_001165963.4(SCN1A):c.5564C>A (p.Pro1855His)
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|
|
NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter)
|
rs779614747
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NM_001165963.4(SCN1A):c.5662C>T (p.Gln1888Ter)
|
rs794726845
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|
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter)
|
rs794726739
|
|
NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile)
|
rs121918793
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NM_001165963.4(SCN1A):c.5780G>C (p.Arg1927Thr)
|
rs794726737
|
|