NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe)
|
rs121918801
|
0.00001
|
NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val)
|
rs915676341
|
0.00001
|
NC_000002.11:g.(?_166847704)_(166930181_?)dup
|
|
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NM_001165963.4(SCN1A):c.3429+1G>T
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rs1574166948
|
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NM_001165963.4(SCN1A):c.3498del (p.Gln1166fs)
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|
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NM_001165963.4(SCN1A):c.3705+5G>A
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rs1060502189
|
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NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg)
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rs796053001
|
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NM_001165963.4(SCN1A):c.3862G>T (p.Asp1288Tyr)
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rs1553531134
|
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NM_001165963.4(SCN1A):c.3889dup (p.Val1297fs)
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rs2105571418
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NM_001165963.4(SCN1A):c.3961_3962del (p.Leu1321fs)
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|
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NM_001165963.4(SCN1A):c.4003-4T>G
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|
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NM_001165963.4(SCN1A):c.4040T>A (p.Ile1347Asn)
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rs1553525325
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NM_001165963.4(SCN1A):c.4048G>A (p.Val1350Met)
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rs1574006637
|
|
NM_001165963.4(SCN1A):c.4124A>C (p.His1375Pro)
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|
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NM_001165963.4(SCN1A):c.4133A>T (p.Asn1378Ile)
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rs1131691775
|
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NM_001165963.4(SCN1A):c.4146del (p.Asp1383fs)
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rs1574005699
|
|
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe)
|
rs1690574155
|
|
NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn)
|
rs1573991676
|
|
NM_001165963.4(SCN1A):c.4338+616G>A
|
rs1366966423
|
|
NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu)
|
rs121917945
|
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NM_001165963.4(SCN1A):c.4379A>G (p.Tyr1460Cys)
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|
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NM_001165963.4(SCN1A):c.4412C>G (p.Ser1471Cys)
|
|
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NM_001165963.4(SCN1A):c.4428C>G (p.Asn1476Lys)
|
rs1573984110
|
|
NM_001165963.4(SCN1A):c.4444A>C (p.Ile1482Leu)
|
rs794729200
|
|
NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=)
|
rs1085307730
|
|
NM_001165963.4(SCN1A):c.4477-3T>A
|
rs1690013843
|
|
NM_001165963.4(SCN1A):c.4525A>C (p.Asn1509His)
|
rs1690003122
|
|
NM_001165963.4(SCN1A):c.4581+18A>G
|
rs1689981394
|
|
NM_001165963.4(SCN1A):c.4581+5G>C
|
rs1559114303
|
|
NM_001165963.4(SCN1A):c.4582-2A>G
|
rs2105449932
|
|
NM_001165963.4(SCN1A):c.4585A>T (p.Lys1529Ter)
|
|
|
NM_001165963.4(SCN1A):c.4601T>A (p.Val1534Asp)
|
rs2105449751
|
|
NM_001165963.4(SCN1A):c.4752_4753del (p.Thr1585fs)
|
rs2105448260
|
|
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His)
|
rs575368466
|
|
NM_001165963.4(SCN1A):c.4814A>T (p.Asn1605Ile)
|
rs1057519533
|
|
NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr)
|
rs121917915
|
|
NM_001165963.4(SCN1A):c.4852G>A (p.Gly1618Ser)
|
rs2105447216
|
|
NM_001165963.4(SCN1A):c.4862T>C (p.Leu1621Pro)
|
rs1573953706
|
|
NM_001165963.4(SCN1A):c.4907G>C (p.Arg1636Pro)
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|
|
NM_001165963.4(SCN1A):c.4972A>C (p.Thr1658Pro)
|
rs1064794766
|
|
NM_001165963.4(SCN1A):c.4972_4973delinsTA (p.Thr1658Ter)
|
|
|
NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met)
|
rs121917922
|
|
NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe)
|
rs794726760
|
|
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
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|
|
NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser)
|
rs121918778
|
|
NM_001165963.4(SCN1A):c.5173G>A (p.Gly1725Ser)
|
rs1689280236
|
|
NM_001165963.4(SCN1A):c.5177G>A (p.Trp1726Ter)
|
|
|
NM_001165963.4(SCN1A):c.5180A>G (p.Asp1727Gly)
|
rs1689278062
|
|
NM_001165963.4(SCN1A):c.5249del (p.Ser1750fs)
|
rs2105430494
|
|
NM_001165963.4(SCN1A):c.5261G>A (p.Gly1754Glu)
|
rs796053036
|
|
NM_001165963.4(SCN1A):c.5308A>T (p.Ile1770Phe)
|
rs1573947939
|
|
NM_001165963.4(SCN1A):c.5351T>C (p.Val1784Ala)
|
rs1057518671
|
|
NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val)
|
rs780809852
|
|
NM_001165963.4(SCN1A):c.5546T>C (p.Leu1849Pro)
|
rs1689186812
|
|
NM_001165963.4(SCN1A):c.5768A>C (p.Gln1923Pro)
|
rs1689139851
|
|