NM_001165963.4(SCN1A):c.4495T>C (p.Phe1499Leu)
|
rs121918632
|
0.00001
|
NM_001165963.4(SCN1A):c.4969C>T (p.Arg1657Cys)
|
rs121918811
|
0.00001
|
NM_001165963.4(SCN1A):c.3089_3091delinsAA (p.Ile1030fs)
|
rs2105796316
|
|
NM_001165963.4(SCN1A):c.3093T>A (p.Tyr1031Ter)
|
rs1553540382
|
|
NM_001165963.4(SCN1A):c.3106C>T (p.Gln1036Ter)
|
rs542420576
|
|
NM_001165963.4(SCN1A):c.3195_3196del (p.Thr1066fs)
|
rs1553540282
|
|
NM_001165963.4(SCN1A):c.3268dup (p.Ser1090fs)
|
rs796053070
|
|
NM_001165963.4(SCN1A):c.3282del (p.Lys1094fs)
|
rs1696338792
|
|
NM_001165963.4(SCN1A):c.3295G>T (p.Glu1099Ter)
|
rs1553540207
|
|
NM_001165963.4(SCN1A):c.3351del (p.Ile1117fs)
|
rs1696322307
|
|
NM_001165963.4(SCN1A):c.3361G>T (p.Glu1121Ter)
|
rs796052993
|
|
NM_001165963.4(SCN1A):c.3371_3372del (p.Asp1123_Phe1124insTer)
|
rs1131691693
|
|
NM_001165963.4(SCN1A):c.3377dup (p.Asn1126fs)
|
rs1064796177
|
|
NM_001165963.4(SCN1A):c.3409del (p.Asp1137fs)
|
rs796053071
|
|
NM_001165963.4(SCN1A):c.3425_3426del (p.Lys1142fs)
|
rs886039529
|
|
NM_001165963.4(SCN1A):c.3429+1G>T
|
rs1574166948
|
|
NM_001165963.4(SCN1A):c.3429G>A (p.Glu1143=)
|
rs796052994
|
|
NM_001165963.4(SCN1A):c.3496C>T (p.Gln1166Ter)
|
rs368609628
|
|
NM_001165963.4(SCN1A):c.3553del (p.Cys1185fs)
|
rs796053068
|
|
NM_001165963.4(SCN1A):c.3569dup (p.Cys1191fs)
|
rs1692895957
|
|
NM_001165963.4(SCN1A):c.3607C>T (p.Gln1203Ter)
|
rs796052995
|
|
NM_001165963.4(SCN1A):c.3610T>C (p.Trp1204Arg)
|
rs121917930
|
|
NM_001165963.4(SCN1A):c.3627_3630del (p.Arg1209fs)
|
rs1692878257
|
|
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)
|
rs794726710
|
|
NM_001165963.4(SCN1A):c.3646_3659del (p.Val1215_Glu1216insTer)
|
rs2105610084
|
|
NM_001165963.4(SCN1A):c.3656G>A (p.Trp1219Ter)
|
rs1692870117
|
|
NM_001165963.4(SCN1A):c.3717dup (p.Ile1240fs)
|
rs1692581621
|
|
NM_001165963.4(SCN1A):c.3724_3725dup (p.Asp1243fs)
|
rs796053072
|
|
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter)
|
rs727504136
|
|
NM_001165963.4(SCN1A):c.3776dup (p.Thr1260fs)
|
rs796053073
|
|
NM_001165963.4(SCN1A):c.3783C>A (p.Tyr1261Ter)
|
rs1043031572
|
|
NM_001165963.4(SCN1A):c.3835del (p.Tyr1279fs)
|
rs1574051206
|
|
NM_001165963.4(SCN1A):c.3852G>A (p.Trp1284Ter)
|
rs1553531178
|
|
NM_001165963.4(SCN1A):c.3853dup (p.Cys1285fs)
|
rs796053074
|
|
NM_001165963.4(SCN1A):c.3857G>A (p.Trp1286Ter)
|
rs886039705
|
|
NM_001165963.4(SCN1A):c.3877del (p.Asp1293fs)
|
rs886041562
|
|
NM_001165963.4(SCN1A):c.3898del (p.Thr1300fs)
|
rs1057518229
|
|
NM_001165963.4(SCN1A):c.3952_3975del (p.Leu1318_Arg1325del)
|
rs1553529461
|
|
NM_001165963.4(SCN1A):c.3957_3958del (p.Arg1319fs)
|
rs1692162437
|
|
NM_001165963.4(SCN1A):c.3965G>C (p.Arg1322Thr)
|
rs2105569996
|
|
NM_001165963.4(SCN1A):c.3966_3976del (p.Arg1322fs)
|
rs796053107
|
|
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter)
|
rs796053004
|
|
NM_001165963.4(SCN1A):c.4006G>A (p.Val1336Ile)
|
rs796053005
|
|
NM_001165963.4(SCN1A):c.4016C>A (p.Ala1339Asp)
|
rs794726789
|
|
NM_001165963.4(SCN1A):c.4027G>C (p.Ala1343Pro)
|
rs796053006
|
|
NM_001165963.4(SCN1A):c.4040T>C (p.Ile1347Thr)
|
rs1553525325
|
|
NM_001165963.4(SCN1A):c.4141del (p.Thr1381fs)
|
rs1553525146
|
|
NM_001165963.4(SCN1A):c.4158_4163delinsATAATCATACTGATTGCCTAAAACTAAT (p.Asp1386_Glu1388delinsGluTer)
|
rs886039712
|
|
NM_001165963.4(SCN1A):c.4160del (p.Ile1387fs)
|
rs1064796714
|
|
NM_001165963.4(SCN1A):c.4166del (p.Asp1389fs)
|
rs796053077
|
|
NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met)
|
rs121917986
|
|
NM_001165963.4(SCN1A):c.4205_4208del (p.Arg1402fs)
|
rs1691048388
|
|
NM_001165963.4(SCN1A):c.4216dup (p.Ala1406fs)
|
rs796053078
|
|
NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter)
|
rs398123593
|
|
NM_001165963.4(SCN1A):c.4224G>A (p.Trp1408Ter)
|
rs794727337
|
|
NM_001165963.4(SCN1A):c.4284+2T>C
|
rs398123595
|
|
NM_001165963.4(SCN1A):c.4285G>A (p.Ala1429Thr)
|
rs796053008
|
|
NM_001165963.4(SCN1A):c.4297G>C (p.Gly1433Arg)
|
rs121917908
|
|
NM_001165963.4(SCN1A):c.4298G>A (p.Gly1433Glu)
|
rs121918741
|
|
NM_001165963.4(SCN1A):c.4300T>C (p.Trp1434Arg)
|
rs121918789
|
|
NM_001165963.4(SCN1A):c.4318del (p.Ala1440fs)
|
rs796053079
|
|
NM_001165963.4(SCN1A):c.4338+1G>T
|
rs1553523138
|
|
NM_001165963.4(SCN1A):c.4348C>T (p.Gln1450Ter)
|
rs121918806
|
|
NM_001165963.4(SCN1A):c.4386C>G (p.Tyr1462Ter)
|
rs587781146
|
|
NM_001165963.4(SCN1A):c.4476+1A>G
|
rs796053014
|
|
NM_001165963.4(SCN1A):c.4476+1A>T
|
rs796053014
|
|
NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=)
|
rs1085307730
|
|
NM_001165963.4(SCN1A):c.4504G>T (p.Glu1502Ter)
|
rs1553521538
|
|
NM_001165963.4(SCN1A):c.4512G>T (p.Gln1504His)
|
rs1559114837
|
|
NM_001165963.4(SCN1A):c.4521C>A (p.Tyr1507Ter)
|
rs750997506
|
|
NM_001165963.4(SCN1A):c.4521C>G (p.Tyr1507Ter)
|
rs750997506
|
|
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter)
|
rs139300715
|
|
NM_001165963.4(SCN1A):c.4548del (p.Lys1518fs)
|
rs796053081
|
|
NM_001165963.4(SCN1A):c.4549A>T (p.Lys1517Ter)
|
rs794726835
|
|
NM_001165963.4(SCN1A):c.4554dup (p.Pro1519fs)
|
rs794726825
|
|
NM_001165963.4(SCN1A):c.4562del (p.Lys1521fs)
|
rs1064796343
|
|
NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter)
|
rs794726752
|
|
NM_001165963.4(SCN1A):c.4610dup (p.Val1538fs)
|
rs886041982
|
|
NM_001165963.4(SCN1A):c.4681G>T (p.Glu1561Ter)
|
rs796053024
|
|
NM_001165963.4(SCN1A):c.4764T>A (p.Cys1588Ter)
|
rs1553520980
|
|
NM_001165963.4(SCN1A):c.4777_4778del (p.Ile1593fs)
|
rs796053080
|
|
NM_001165963.4(SCN1A):c.4783_4784del (p.Leu1595fs)
|
rs1689682880
|
|
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys)
|
rs121917993
|
|
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His)
|
rs575368466
|
|
NM_001165963.4(SCN1A):c.4794T>G (p.Tyr1598Ter)
|
rs796053026
|
|
NM_001165963.4(SCN1A):c.4812del (p.Gly1603_Trp1604insTer)
|
rs886043532
|
|
NM_001165963.4(SCN1A):c.4821del (p.Phe1607fs)
|
rs796053083
|
|
NM_001165963.4(SCN1A):c.4838_4843delinsCAAAATGGTAGGTTGTCTTACCTA (p.Ile1613_Ser1615delinsThrLysTrpTer)
|
|
|
NM_001165963.4(SCN1A):c.4853-1G>A
|
rs1553520530
|
|
NM_001165963.4(SCN1A):c.4853-1G>C
|
rs1553520530
|
|
NM_001165963.4(SCN1A):c.4896dup (p.Thr1633fs)
|
rs796053084
|
|
NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter)
|
rs199727342
|
|
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln)
|
rs121917995
|
|
NM_001165963.4(SCN1A):c.4931G>A (p.Gly1644Asp)
|
rs796053030
|
|
NM_001165963.4(SCN1A):c.4933C>T (p.Arg1645Ter)
|
rs794726759
|
|
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln)
|
rs121917976
|
|
NM_001165963.4(SCN1A):c.4942C>T (p.Arg1648Cys)
|
rs121918791
|
|
NM_001165963.4(SCN1A):c.4943G>A (p.Arg1648His)
|
rs121918622
|
|
NM_001165963.4(SCN1A):c.4943G>C (p.Arg1648Pro)
|
|
|
NM_001165963.4(SCN1A):c.4943G>T (p.Arg1648Leu)
|
rs121918622
|
|
NM_001165963.4(SCN1A):c.4979T>C (p.Leu1660Pro)
|
rs1131691675
|
|
NM_001165963.4(SCN1A):c.4990A>C (p.Met1664Leu)
|
rs1689339718
|
|
NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs)
|
rs794726754
|
|
NM_001165963.4(SCN1A):c.5020_5025del (p.Gly1674_Leu1675del)
|
rs797044982
|
|
NM_001165963.4(SCN1A):c.5053G>C (p.Ala1685Pro)
|
rs760249153
|
|
NM_001165963.4(SCN1A):c.5115del (p.Phe1705fs)
|
|
|
NM_001165963.4(SCN1A):c.5146T>C (p.Cys1716Arg)
|
rs121917926
|
|
NM_001165963.4(SCN1A):c.5153T>C (p.Phe1718Ser)
|
rs1131691793
|
|
NM_001165963.4(SCN1A):c.5162C>A (p.Thr1721Lys)
|
rs121917978
|
|
NM_001165963.4(SCN1A):c.5182_5198del (p.Gly1728fs)
|
rs1553520298
|
|
NM_001165963.4(SCN1A):c.5222G>A (p.Cys1741Tyr)
|
rs794726763
|
|
NM_001165963.4(SCN1A):c.5273_5277del (p.Asn1758fs)
|
rs796053085
|
|
NM_001165963.4(SCN1A):c.5294_5298del (p.Phe1765fs)
|
rs794726832
|
|
NM_001165963.4(SCN1A):c.5303G>A (p.Ser1768Asn)
|
|
|
NM_001165963.4(SCN1A):c.5330T>C (p.Val1777Ala)
|
rs1689245014
|
|
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr)
|
rs121917980
|
|
NM_001165963.4(SCN1A):c.5348C>T (p.Ala1783Val)
|
rs121917921
|
|
NM_001165963.4(SCN1A):c.5386del (p.Ser1796fs)
|
rs1553520151
|
|
NM_001165963.4(SCN1A):c.5403_5406del (p.Ser1801fs)
|
rs1085307901
|
|
NM_001165963.4(SCN1A):c.5416G>T (p.Glu1806Ter)
|
rs796053039
|
|
NM_001165963.4(SCN1A):c.5422T>C (p.Phe1808Leu)
|
rs121918757
|
|
NM_001165963.4(SCN1A):c.5435G>A (p.Trp1812Ter)
|
rs796053040
|
|
NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr)
|
rs1559101839
|
|
NM_001165963.4(SCN1A):c.5492T>G (p.Phe1831Cys)
|
rs121918748
|
|
NM_001165963.4(SCN1A):c.5504_5512del (p.Leu1835_Pro1837del)
|
rs797044983
|
|
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs)
|
rs794726726
|
|
NM_001165963.4(SCN1A):c.5539del (p.Leu1847fs)
|
rs398123599
|
|
NM_001165963.4(SCN1A):c.5567T>A (p.Met1856Lys)
|
rs796053041
|
|
NM_001165963.4(SCN1A):c.5567T>C (p.Met1856Thr)
|
rs796053041
|
|
NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter)
|
rs779614747
|
|
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter)
|
rs794726739
|
|
NM_001165963.4(SCN1A):c.5708_5711dup (p.Pro1905fs)
|
rs796053086
|
|
NM_001165963.4(SCN1A):c.5710C>T (p.Gln1904Ter)
|
rs796053103
|
|
NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile)
|
rs121918793
|
|
NM_001165963.4(SCN1A):c.5734C>T (p.Arg1912Ter)
|
rs77216276
|
|
NM_001165963.4(SCN1A):c.5741_5742del (p.Gln1914fs)
|
rs1689146216
|
|
NM_001165963.4(SCN1A):c.5744_5748del (p.Glu1915fs)
|
rs797044984
|
|
NM_001165963.4(SCN1A):c.5746G>T (p.Glu1916Ter)
|
rs796053046
|
|
NM_001165963.4(SCN1A):c.5746del (p.Glu1916fs)
|
rs796053087
|
|
NM_001165963.4(SCN1A):c.5778C>G (p.Tyr1926Ter)
|
rs1064794251
|
|
NM_001165963.4(SCN1A):c.5788del (p.Leu1930fs)
|
rs2105423091
|
|