NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)
|
rs121918799
|
0.00159
|
NM_001165963.4(SCN1A):c.4612G>A (p.Val1538Ile)
|
rs780360360
|
0.00004
|
NM_001165963.4(SCN1A):c.4096G>A (p.Val1366Ile)
|
rs121918805
|
0.00002
|
NM_001165963.4(SCN1A):c.3734G>A (p.Arg1245Gln)
|
rs121917912
|
0.00001
|
NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser)
|
rs398123591
|
0.00001
|
NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe)
|
rs121918801
|
0.00001
|
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.5291T>A (p.Phe1764Tyr)
|
rs796053037
|
0.00001
|
NC_000002.12:g.(?_165985812)_(166002754_166009718)del
|
|
|
NM_001165963.4(SCN1A):c.2616_3206delinsAAGTTGGCAAAA (p.Trp873_Ile1069delinsSerTrpGlnAsn)
|
|
|
NM_001165963.4(SCN1A):c.3082del (p.Arg1028fs)
|
rs1553540389
|
|
NM_001165963.4(SCN1A):c.3104_3110del (p.Gln1035fs)
|
rs1574170908
|
|
NM_001165963.4(SCN1A):c.3106C>T (p.Gln1036Ter)
|
rs542420576
|
|
NM_001165963.4(SCN1A):c.3106_3107del (p.Gln1036fs)
|
rs1696373154
|
|
NM_001165963.4(SCN1A):c.3109_3119del (p.Ser1037fs)
|
rs2105795955
|
|
NM_001165963.4(SCN1A):c.3124C>T (p.Gln1042Ter)
|
rs1553540342
|
|
NM_001165963.4(SCN1A):c.3124del (p.Gln1042fs)
|
|
|
NM_001165963.4(SCN1A):c.3139G>T (p.Glu1047Ter)
|
rs776984527
|
|
NM_001165963.4(SCN1A):c.3173_3176del (p.Lys1058fs)
|
rs1696358124
|
|
NM_001165963.4(SCN1A):c.3180_3181insA (p.Cys1061fs)
|
rs1696356978
|
|
NM_001165963.4(SCN1A):c.3182del (p.Cys1061fs)
|
|
|
NM_001165963.4(SCN1A):c.3183T>A (p.Cys1061Ter)
|
rs1553540294
|
|
NM_001165963.4(SCN1A):c.3229_3262dup (p.Thr1088fs)
|
rs1574169179
|
|
NM_001165963.4(SCN1A):c.3241G>T (p.Gly1081Ter)
|
rs1248613652
|
|
NM_001165963.4(SCN1A):c.3260del (p.Gly1087fs)
|
rs2105794716
|
|
NM_001165963.4(SCN1A):c.3282del (p.Lys1094fs)
|
rs1696338792
|
|
NM_001165963.4(SCN1A):c.3305del (p.Tyr1102fs)
|
rs1696333581
|
|
NM_001165963.4(SCN1A):c.3306C>A (p.Tyr1102Ter)
|
rs863225032
|
|
NM_001165963.4(SCN1A):c.3311C>G (p.Ser1104Ter)
|
rs1574168611
|
|
NM_001165963.4(SCN1A):c.3311dup (p.Phe1105fs)
|
rs2105794174
|
|
NM_001165963.4(SCN1A):c.3327_3328del (p.Leu1111fs)
|
|
|
NM_001165963.4(SCN1A):c.3327dup (p.Ser1110fs)
|
rs1559193213
|
|
NM_001165963.4(SCN1A):c.3343_3344del (p.Val1115fs)
|
rs1559193050
|
|
NM_001165963.4(SCN1A):c.3352G>T (p.Ala1118Ser)
|
|
|
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.3380T>G (p.Leu1127Ter)
|
rs2105793395
|
|
NM_001165963.4(SCN1A):c.3383_3390del (p.Asn1128fs)
|
rs2105793286
|
|
NM_001165963.4(SCN1A):c.3395_3396del (p.Asp1131_Phe1132insTer)
|
rs2105793178
|
|
NM_001165963.4(SCN1A):c.3403G>T (p.Glu1135Ter)
|
rs2105793066
|
|
NM_001165963.4(SCN1A):c.3407C>A (p.Ser1136Ter)
|
rs746718015
|
|
NM_001165963.4(SCN1A):c.3429+1G>A
|
rs1574166948
|
|
NM_001165963.4(SCN1A):c.3429+1G>T
|
rs1574166948
|
|
NM_001165963.4(SCN1A):c.3429+2T>C
|
|
|
NM_001165963.4(SCN1A):c.3429+5G>A
|
|
|
NM_001165963.4(SCN1A):c.3430-1G>A
|
|
|
NM_001165963.4(SCN1A):c.3430-2A>G
|
rs1693198997
|
|
NM_001165963.4(SCN1A):c.3431_3432del (p.Lys1144fs)
|
rs1553534296
|
|
NM_001165963.4(SCN1A):c.3438_3442del (p.Asn1146fs)
|
rs2105630442
|
|
NM_001165963.4(SCN1A):c.3439G>T (p.Glu1147Ter)
|
rs794726733
|
|
NM_001165963.4(SCN1A):c.3455C>A (p.Ser1152Ter)
|
rs794726728
|
|
NM_001165963.4(SCN1A):c.3477del (p.Ile1159fs)
|
rs794726729
|
|
NM_001165963.4(SCN1A):c.3487del (p.Pro1162_Val1163insTer)
|
rs794726774
|
|
NM_001165963.4(SCN1A):c.3496C>T (p.Gln1166Ter)
|
rs368609628
|
|
NM_001165963.4(SCN1A):c.3510dup (p.Pro1171fs)
|
|
|
NM_001165963.4(SCN1A):c.3517dup (p.Glu1173fs)
|
rs1693176153
|
|
NM_001165963.4(SCN1A):c.3525_3526insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGAACCTGAAGAAACTCTT (p.Glu1176delinsPhePhePhePhePhePheXaaXaaXaaXaaTyrGluIleSerSerHisThrSerTer)
|
|
|
NM_001165963.4(SCN1A):c.3525dup (p.Glu1176Ter)
|
rs2105628869
|
|
NM_001165963.4(SCN1A):c.3530C>G (p.Pro1177Arg)
|
rs752060724
|
|
NM_001165963.4(SCN1A):c.3531_3534dup (p.Ala1179fs)
|
rs1574069132
|
|
NM_001165963.4(SCN1A):c.3550+1G>A
|
rs794726836
|
|
NM_001165963.4(SCN1A):c.3550+2T>C
|
rs1574068971
|
|
NM_001165963.4(SCN1A):c.3550+2T>G
|
rs1574068971
|
|
NM_001165963.4(SCN1A):c.3607C>T (p.Gln1203Ter)
|
rs796052995
|
|
NM_001165963.4(SCN1A):c.3609del (p.Gln1203fs)
|
rs1574061044
|
|
NM_001165963.4(SCN1A):c.3610T>C (p.Trp1204Arg)
|
rs121917930
|
|
NM_001165963.4(SCN1A):c.3610del (p.Trp1204fs)
|
|
|
NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter)
|
rs1559149128
|
|
NM_001165963.4(SCN1A):c.3612G>A (p.Trp1204Ter)
|
rs1553532671
|
|
NM_001165963.4(SCN1A):c.3614G>A (p.Trp1205Ter)
|
rs2105610895
|
|
NM_001165963.4(SCN1A):c.3615G>A (p.Trp1205Ter)
|
rs794726720
|
|
NM_001165963.4(SCN1A):c.3629C>A (p.Thr1210Lys)
|
rs121918738
|
|
NM_001165963.4(SCN1A):c.3631dup (p.Cys1211fs)
|
rs1060502182
|
|
NM_001165963.4(SCN1A):c.3633T>A (p.Cys1211Ter)
|
|
|
NM_001165963.4(SCN1A):c.3635_3636delinsA (p.Phe1212fs)
|
rs1574060717
|
|
NM_001165963.4(SCN1A):c.3635del (p.Phe1212fs)
|
rs2105610528
|
|
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)
|
rs794726710
|
|
NM_001165963.4(SCN1A):c.3641T>A (p.Ile1214Lys)
|
|
|
NM_001165963.4(SCN1A):c.3646G>C (p.Glu1216Gln)
|
|
|
NM_001165963.4(SCN1A):c.3649_3650insTT (p.His1217fs)
|
rs2105610260
|
|
NM_001165963.4(SCN1A):c.3656G>A (p.Trp1219Ter)
|
rs1692870117
|
|
NM_001165963.4(SCN1A):c.3657G>A (p.Trp1219Ter)
|
rs863225033
|
|
NM_001165963.4(SCN1A):c.3660T>G (p.Phe1220Leu)
|
rs2105610047
|
|
NM_001165963.4(SCN1A):c.3661G>C (p.Glu1221Gln)
|
rs794726854
|
|
NM_001165963.4(SCN1A):c.3689T>C (p.Leu1230Pro)
|
rs1574060250
|
|
NM_001165963.4(SCN1A):c.3690dup (p.Ser1231Ter)
|
rs1057519534
|
|
NM_001165963.4(SCN1A):c.3696T>G (p.Ser1232Arg)
|
|
|
NM_001165963.4(SCN1A):c.3697G>C (p.Gly1233Arg)
|
rs121917911
|
|
NM_001165963.4(SCN1A):c.3698G>A (p.Gly1233Asp)
|
rs1553532470
|
|
NM_001165963.4(SCN1A):c.3704del (p.Leu1235fs)
|
rs869312670
|
|
NM_001165963.4(SCN1A):c.3705+1G>A
|
rs794726744
|
|
NM_001165963.4(SCN1A):c.3705+1G>C
|
|
|
NM_001165963.4(SCN1A):c.3705+1G>T
|
rs794726744
|
|
NM_001165963.4(SCN1A):c.3705+2T>A
|
rs794726735
|
|
NM_001165963.4(SCN1A):c.3705+5G>A
|
rs1060502189
|
|
NM_001165963.4(SCN1A):c.3706-1G>C
|
rs1692586014
|
|
NM_001165963.4(SCN1A):c.3706-2A>G
|
|
|
NM_001165963.4(SCN1A):c.3706-2A>T
|
rs1692586274
|
|
NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro)
|
rs794726770
|
|
NM_001165963.4(SCN1A):c.3712G>T (p.Glu1238Ter)
|
rs750364705
|
|
NM_001165963.4(SCN1A):c.3715_3721dup (p.Tyr1241Ter)
|
rs2105593982
|
|
NM_001165963.4(SCN1A):c.3718_3729del (p.Ile1240_Asp1243del)
|
rs1574052546
|
|
NM_001165963.4(SCN1A):c.3724_3725dup (p.Asp1243fs)
|
rs796053072
|
|
NM_001165963.4(SCN1A):c.3726_3727insAT (p.Asp1243fs)
|
rs794726706
|
|
NM_001165963.4(SCN1A):c.3726del (p.Ile1242fs)
|
rs1692577292
|
|
NM_001165963.4(SCN1A):c.3730C>T (p.Gln1244Ter)
|
rs794726727
|
|
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter)
|
rs727504136
|
|
NM_001165963.4(SCN1A):c.3757G>T (p.Glu1253Ter)
|
rs794726817
|
|
NM_001165963.4(SCN1A):c.3757_3763dup (p.Ala1255fs)
|
rs1574052179
|
|
NM_001165963.4(SCN1A):c.3762T>A (p.Tyr1254Ter)
|
rs1240187329
|
|
NM_001165963.4(SCN1A):c.3763G>C (p.Ala1255Pro)
|
rs777939538
|
|
NM_001165963.4(SCN1A):c.3778A>C (p.Thr1260Pro)
|
rs121918739
|
|
NM_001165963.4(SCN1A):c.3783C>A (p.Tyr1261Ter)
|
rs1043031572
|
|
NM_001165963.4(SCN1A):c.3783C>G (p.Tyr1261Ter)
|
rs1043031572
|
|
NM_001165963.4(SCN1A):c.3785_3797del (p.Ile1262fs)
|
rs1574051665
|
|
NM_001165963.4(SCN1A):c.3802_3812del (p.Leu1268fs)
|
rs794726709
|
|
NM_001165963.4(SCN1A):c.3803T>G (p.Leu1268Arg)
|
rs2105592653
|
|
NM_001165963.4(SCN1A):c.3809A>C (p.Lys1270Thr)
|
rs121918626
|
|
NM_001165963.4(SCN1A):c.3812G>A (p.Trp1271Ter)
|
rs1574051496
|
|
NM_001165963.4(SCN1A):c.3818C>T (p.Ala1273Val)
|
rs794726841
|
|
NM_001165963.4(SCN1A):c.3821A>C (p.Tyr1274Ser)
|
rs794726852
|
|
NM_001165963.4(SCN1A):c.3822T>G (p.Tyr1274Ter)
|
rs1060502188
|
|
NM_001165963.4(SCN1A):c.3824G>A (p.Gly1275Asp)
|
rs796053000
|
|
NM_001165963.4(SCN1A):c.3828T>A (p.Tyr1276Ter)
|
rs794726731
|
|
NM_001165963.4(SCN1A):c.3829C>T (p.Gln1277Ter)
|
rs1553531217
|
|
NM_001165963.4(SCN1A):c.3836_3837del (p.Tyr1279fs)
|
|
|
NM_001165963.4(SCN1A):c.3837T>G (p.Tyr1279Ter)
|
|
|
NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg)
|
rs796053001
|
|
NM_001165963.4(SCN1A):c.3851G>A (p.Trp1284Ter)
|
rs1559144583
|
|
NM_001165963.4(SCN1A):c.3852del (p.Trp1284fs)
|
rs863225034
|
|
NM_001165963.4(SCN1A):c.3858G>A (p.Trp1286Ter)
|
rs794726853
|
|
NM_001165963.4(SCN1A):c.3860T>C (p.Leu1287Pro)
|
rs121918740
|
|
NM_001165963.4(SCN1A):c.3862G>A (p.Asp1288Asn)
|
rs1553531134
|
|
NM_001165963.4(SCN1A):c.3864CTT[1] (p.Phe1289del)
|
rs2105591602
|
|
NM_001165963.4(SCN1A):c.3867del (p.Phe1289_Leu1290insTer)
|
|
|
NM_001165963.4(SCN1A):c.3869T>A (p.Leu1290Ter)
|
rs2105591567
|
|
NM_001165963.4(SCN1A):c.3874G>C (p.Val1292Leu)
|
rs2105591537
|
|
NM_001165963.4(SCN1A):c.3879+1G>A
|
|
|
NM_001165963.4(SCN1A):c.3879+1G>T
|
rs794726700
|
|
NM_001165963.4(SCN1A):c.3879+5G>C
|
|
|
NM_001165963.4(SCN1A):c.3880-1G>A
|
|
|
NM_001165963.4(SCN1A):c.3880-1G>T
|
rs1559140855
|
|
NM_001165963.4(SCN1A):c.3880-2A>G
|
rs794726816
|
|
NM_001165963.4(SCN1A):c.3880-2_3880-1del
|
|
|
NM_001165963.4(SCN1A):c.3884C>G (p.Ser1295Ter)
|
rs2105571577
|
|
NM_001165963.4(SCN1A):c.3899C>G (p.Thr1300Arg)
|
rs146878122
|
|
NM_001165963.4(SCN1A):c.3905dup (p.Asn1302fs)
|
rs2105571117
|
|
NM_001165963.4(SCN1A):c.3920C>G (p.Ser1307Ter)
|
|
|
NM_001165963.4(SCN1A):c.3926T>A (p.Leu1309His)
|
rs1553529527
|
|
NM_001165963.4(SCN1A):c.3929G>A (p.Gly1310Glu)
|
rs1574039742
|
|
NM_001165963.4(SCN1A):c.3929_3970del (p.Gly1310_Leu1324delinsVal)
|
rs1064795733
|
|
NM_001165963.4(SCN1A):c.3937A>T (p.Lys1313Ter)
|
|
|
NM_001165963.4(SCN1A):c.3942del (p.Leu1315fs)
|
rs2105570349
|
|
NM_001165963.4(SCN1A):c.3944_3945del (p.Leu1315fs)
|
rs1692166604
|
|
NM_001165963.4(SCN1A):c.3950C>G (p.Thr1317Arg)
|
rs2105570237
|
|
NM_001165963.4(SCN1A):c.3952_3975del (p.Leu1318_Arg1325del)
|
rs1553529461
|
|
NM_001165963.4(SCN1A):c.3965G>C (p.Arg1322Thr)
|
rs2105569996
|
|
NM_001165963.4(SCN1A):c.3968C>A (p.Pro1323His)
|
rs1057521746
|
|
NM_001165963.4(SCN1A):c.3970_3971dup (p.Leu1324_Arg1325insTer)
|
rs794726723
|
|
NM_001165963.4(SCN1A):c.3971T>C (p.Leu1324Pro)
|
|
|
NM_001165963.4(SCN1A):c.3971dup (p.Arg1325fs)
|
rs1559140306
|
|
NM_001165963.4(SCN1A):c.3973A>T (p.Arg1325Ter)
|
|
|
NM_001165963.4(SCN1A):c.3977C>A (p.Ala1326Asp)
|
rs2105569724
|
|
NM_001165963.4(SCN1A):c.3982T>C (p.Ser1328Pro)
|
|
|
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter)
|
rs796053004
|
|
NM_001165963.4(SCN1A):c.3986G>C (p.Arg1329Pro)
|
|
|
NM_001165963.4(SCN1A):c.3986G>T (p.Arg1329Leu)
|
|
|
NM_001165963.4(SCN1A):c.3996del (p.Gly1332_Met1333insTer)
|
rs2105569513
|
|
NM_001165963.4(SCN1A):c.3997del (p.Gly1332_Met1333insTer)
|
rs1553529426
|
|
NM_001165963.4(SCN1A):c.4002+1195_4284+346delinsTATT
|
|
|
NM_001165963.4(SCN1A):c.4002+1953_4221del
|
|
|
NM_001165963.4(SCN1A):c.4002+1G>T
|
rs1692153643
|
|
NM_001165963.4(SCN1A):c.4002+2361C>G
|
|
|
NM_001165963.4(SCN1A):c.4002+2451G>C
|
rs869312684
|
|
NM_001165963.4(SCN1A):c.4002+2T>C
|
rs1559140110
|
|
NM_001165963.4(SCN1A):c.4003-11_4036del
|
rs1559128532
|
|
NM_001165963.4(SCN1A):c.4003-1G>A
|
rs1574007140
|
|
NM_001165963.4(SCN1A):c.4003-1G>C
|
rs1574007140
|
|
NM_001165963.4(SCN1A):c.4003G>A (p.Val1335Met)
|
rs121917960
|
|
NM_001165963.4(SCN1A):c.4013_4015dup (p.Asn1338_Ala1339insAsp)
|
rs1691093633
|
|
NM_001165963.4(SCN1A):c.4016C>A (p.Ala1339Asp)
|
rs794726789
|
|
NM_001165963.4(SCN1A):c.4016C>T (p.Ala1339Val)
|
rs794726789
|
|
NM_001165963.4(SCN1A):c.4017_4018dup (p.Leu1340fs)
|
rs2105510576
|
|
NM_001165963.4(SCN1A):c.4024G>T (p.Gly1342Ter)
|
rs1553525358
|
|
NM_001165963.4(SCN1A):c.4028del (p.Ala1343fs)
|
rs1691088488
|
|
NM_001165963.4(SCN1A):c.4033C>T (p.Pro1345Ser)
|
rs1574006857
|
|
NM_001165963.4(SCN1A):c.4044G>A (p.Met1348Ile)
|
rs794726822
|
|
NM_001165963.4(SCN1A):c.4046A>C (p.Asn1349Thr)
|
|
|
NM_001165963.4(SCN1A):c.4048G>A (p.Val1350Met)
|
rs1574006637
|
|
NM_001165963.4(SCN1A):c.4048G>C (p.Val1350Leu)
|
rs1574006637
|
|
NM_001165963.4(SCN1A):c.4055T>A (p.Leu1352Gln)
|
rs794726821
|
|
NM_001165963.4(SCN1A):c.4055T>C (p.Leu1352Pro)
|
rs794726821
|
|
NM_001165963.4(SCN1A):c.4057G>C (p.Val1353Leu)
|
rs121917954
|
|
NM_001165963.4(SCN1A):c.4057G>T (p.Val1353Phe)
|
rs121917954
|
|
NM_001165963.4(SCN1A):c.4061G>T (p.Cys1354Phe)
|
rs1057521537
|
|
NM_001165963.4(SCN1A):c.4072T>C (p.Trp1358Arg)
|
|
|
NM_001165963.4(SCN1A):c.4073G>A (p.Trp1358Ter)
|
rs121917961
|
|
NM_001165963.4(SCN1A):c.4073G>T (p.Trp1358Leu)
|
rs121917961
|
|
NM_001165963.4(SCN1A):c.4083C>A (p.Phe1361Leu)
|
rs2105509873
|
|
NM_001165963.4(SCN1A):c.4086C>G (p.Ser1362Arg)
|
rs794726779
|
|
NM_001165963.4(SCN1A):c.4088T>A (p.Ile1363Asn)
|
rs794726707
|
|
NM_001165963.4(SCN1A):c.4094G>A (p.Gly1365Asp)
|
rs1691073965
|
|
NM_001165963.4(SCN1A):c.4109C>T (p.Ala1370Val)
|
rs1553525210
|
|
NM_001165963.4(SCN1A):c.4112G>A (p.Gly1371Asp)
|
rs865867764
|
|
NM_001165963.4(SCN1A):c.4127G>A (p.Cys1376Tyr)
|
rs2105509347
|
|
NM_001165963.4(SCN1A):c.4133A>C (p.Asn1378Thr)
|
rs1131691775
|
|
NM_001165963.4(SCN1A):c.4133_4134insATAA (p.Asn1378delinsLysTer)
|
|
|
NM_001165963.4(SCN1A):c.4144_4153del (p.Gly1382fs)
|
|
|
NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met)
|
rs121917986
|
|
NM_001165963.4(SCN1A):c.4168G>C (p.Val1390Leu)
|
rs121917986
|
|
NM_001165963.4(SCN1A):c.4168G>T (p.Val1390Leu)
|
|
|
NM_001165963.4(SCN1A):c.4174_4186del (p.Asn1392fs)
|
rs1553525036
|
|
NM_001165963.4(SCN1A):c.4177_4180delinsTG (p.His1393fs)
|
rs1574005235
|
|
NM_001165963.4(SCN1A):c.4178A>C (p.His1393Pro)
|
|
|
NM_001165963.4(SCN1A):c.4181C>T (p.Thr1394Ile)
|
|
|
NM_001165963.4(SCN1A):c.4181_4182del (p.Thr1394fs)
|
rs1691052813
|
|
NM_001165963.4(SCN1A):c.4184_4187dup (p.Cys1396Ter)
|
rs2105508605
|
|
NM_001165963.4(SCN1A):c.4186T>G (p.Cys1396Gly)
|
rs121917987
|
|
NM_001165963.4(SCN1A):c.4188C>A (p.Cys1396Ter)
|
rs794726745
|
|
NM_001165963.4(SCN1A):c.4196T>C (p.Leu1399Pro)
|
|
|
NM_001165963.4(SCN1A):c.4204del (p.Arg1402fs)
|
rs2105508454
|
|
NM_001165963.4(SCN1A):c.4205_4208del (p.Arg1402fs)
|
rs1691048388
|
|
NM_001165963.4(SCN1A):c.4216G>A (p.Ala1406Thr)
|
rs1559127505
|
|
NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter)
|
rs398123593
|
|
NM_001165963.4(SCN1A):c.4223G>A (p.Trp1408Ter)
|
rs794726784
|
|
NM_001165963.4(SCN1A):c.4224G>A (p.Trp1408Ter)
|
rs794727337
|
|
NM_001165963.4(SCN1A):c.4234A>T (p.Lys1412Ter)
|
rs1553524977
|
|
NM_001165963.4(SCN1A):c.4236del (p.Lys1412_Val1413insTer)
|
rs1060502183
|
|
NM_001165963.4(SCN1A):c.4244T>C (p.Phe1415Ser)
|
rs1691039670
|
|
NM_001165963.4(SCN1A):c.4244_4245del (p.Asn1414_Phe1415insTer)
|
rs794726705
|
|
NM_001165963.4(SCN1A):c.4247A>G (p.Asp1416Gly)
|
rs2105507958
|
|
NM_001165963.4(SCN1A):c.4260del (p.Phe1420fs)
|
|
|
NM_001165963.4(SCN1A):c.4265A>G (p.Tyr1422Cys)
|
rs121917913
|
|
NM_001165963.4(SCN1A):c.4266T>A (p.Tyr1422Ter)
|
rs863225035
|
|
NM_001165963.4(SCN1A):c.4267C>G (p.Leu1423Val)
|
rs1060502190
|
|
NM_001165963.4(SCN1A):c.4269_4272del (p.Ser1424fs)
|
rs1574004452
|
|
NM_001165963.4(SCN1A):c.4279C>T (p.Gln1427Ter)
|
|
|
NM_001165963.4(SCN1A):c.4282G>T (p.Val1428Phe)
|
rs878854263
|
|
NM_001165963.4(SCN1A):c.4283T>A (p.Val1428Asp)
|
rs121918627
|
|
NM_001165963.4(SCN1A):c.4283T>C (p.Val1428Ala)
|
rs121918627
|
|
NM_001165963.4(SCN1A):c.4284+1G>A
|
rs1553524865
|
|
NM_001165963.4(SCN1A):c.4284+1G>T
|
rs1553524865
|
|
NM_001165963.4(SCN1A):c.4284+2del
|
rs2105507548
|
|
NM_001165963.4(SCN1A):c.4285G>A (p.Ala1429Thr)
|
rs796053008
|
|
NM_001165963.4(SCN1A):c.4294A>G (p.Lys1432Glu)
|
rs1553523204
|
|
NM_001165963.4(SCN1A):c.4295A>T (p.Lys1432Ile)
|
rs1690583220
|
|
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.4302G>A (p.Trp1434Ter)
|
rs794726699
|
|
NM_001165963.4(SCN1A):c.4313T>C (p.Met1438Thr)
|
rs796053010
|
|
NM_001165963.4(SCN1A):c.4318G>A (p.Ala1440Thr)
|
rs2105486716
|
|
NM_001165963.4(SCN1A):c.4319C>T (p.Ala1440Val)
|
rs1559122124
|
|
NM_001165963.4(SCN1A):c.4321G>A (p.Ala1441Thr)
|
rs121917974
|
|
NM_001165963.4(SCN1A):c.4322C>T (p.Ala1441Val)
|
rs2105486615
|
|
NM_001165963.4(SCN1A):c.4331C>A (p.Ser1444Tyr)
|
rs1690572580
|
|
NM_001165963.4(SCN1A):c.4333A>T (p.Arg1445Ter)
|
rs1553523142
|
|
NM_001165963.4(SCN1A):c.4338+1G>A
|
|
|
NM_001165963.4(SCN1A):c.4338+4A>C
|
rs794726734
|
|
NM_001165963.4(SCN1A):c.4338+5G>A
|
rs796053011
|
|
NM_001165963.4(SCN1A):c.4338+5G>T
|
|
|
NM_001165963.4(SCN1A):c.4339-1G>A
|
rs1553522517
|
|
NM_001165963.4(SCN1A):c.4351C>A (p.Pro1451Thr)
|
rs794726696
|
|
NM_001165963.4(SCN1A):c.4351C>G (p.Pro1451Ala)
|
rs794726696
|
|
NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu)
|
rs121917945
|
|
NM_001165963.4(SCN1A):c.4358A>G (p.Tyr1453Cys)
|
rs1690345764
|
|
NM_001165963.4(SCN1A):c.4359T>G (p.Tyr1453Ter)
|
rs1573984787
|
|
NM_001165963.4(SCN1A):c.4360G>A (p.Glu1454Lys)
|
rs1553522472
|
|
NM_001165963.4(SCN1A):c.4363G>A (p.Glu1455Lys)
|
rs1131691600
|
|
NM_001165963.4(SCN1A):c.4371_4372insGAGGAAAATCGCTTCAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCACCCAGACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAGTCTG (p.Leu1457_Tyr1458insGluGluAsnArgPheAsnLeuGlyGlyArgGlyCysSerGluProArgLeuHisHisCysThrProProArgXaaXaaXaaXaaLysLysLysLysLysLysLysGluSerLeu)
|
rs2105476619
|
|
NM_001165963.4(SCN1A):c.4372del (p.Tyr1458fs)
|
rs1690342079
|
|
NM_001165963.4(SCN1A):c.4374C>A (p.Tyr1458Ter)
|
|
|
NM_001165963.4(SCN1A):c.4378del (p.Tyr1460fs)
|
rs2105476550
|
|
NM_001165963.4(SCN1A):c.4380T>A (p.Tyr1460Ter)
|
|
|
NM_001165963.4(SCN1A):c.4384T>C (p.Tyr1462His)
|
rs1559119345
|
|
NM_001165963.4(SCN1A):c.4393dup (p.Ile1465fs)
|
|
|
NM_001165963.4(SCN1A):c.4396T>G (p.Phe1466Val)
|
|
|
NM_001165963.4(SCN1A):c.4412C>T (p.Ser1471Phe)
|
rs794726809
|
|
NM_001165963.4(SCN1A):c.4418T>C (p.Phe1473Ser)
|
|
|
NM_001165963.4(SCN1A):c.4423T>G (p.Leu1475Val)
|
rs2105476084
|
|
NM_001165963.4(SCN1A):c.4427A>G (p.Asn1476Ser)
|
rs2105476040
|
|
NM_001165963.4(SCN1A):c.4428C>A (p.Asn1476Lys)
|
rs1573984110
|
|
NM_001165963.4(SCN1A):c.4429del (p.Leu1477fs)
|
rs2105475986
|
|
NM_001165963.4(SCN1A):c.4439G>T (p.Gly1480Val)
|
rs121917996
|
|
NM_001165963.4(SCN1A):c.4441G>A (p.Val1481Ile)
|
rs1085307484
|
|
NM_001165963.4(SCN1A):c.4441_4442del (p.Val1481fs)
|
rs2105475874
|
|
NM_001165963.4(SCN1A):c.4444dup (p.Ile1482fs)
|
rs1573984004
|
|
NM_001165963.4(SCN1A):c.4453A>G (p.Asn1485Asp)
|
rs1553522331
|
|
NM_001165963.4(SCN1A):c.4462del (p.Gln1488fs)
|
rs1553522321
|
|
NM_001165963.4(SCN1A):c.4465C>A (p.Gln1489Lys)
|
rs121918628
|
|
NM_001165963.4(SCN1A):c.4467G>C (p.Gln1489His)
|
rs121918633
|
|
NM_001165963.4(SCN1A):c.4473del (p.Lys1492fs)
|
rs2105475598
|
|
NM_001165963.4(SCN1A):c.4474A>T (p.Lys1492Ter)
|
|
|
NM_001165963.4(SCN1A):c.4476+1A>C
|
|
|
NM_001165963.4(SCN1A):c.4476+1A>G
|
rs796053014
|
|
NM_001165963.4(SCN1A):c.4476+2T>C
|
|
|
NM_001165963.4(SCN1A):c.4476+5G>A
|
rs1553522266
|
|
NM_001165963.4(SCN1A):c.4476_4476+2del
|
|
|
NM_001165963.4(SCN1A):c.4477-1C>T
|
rs1553521567
|
|
NM_001165963.4(SCN1A):c.4477-2A>G
|
rs863225036
|
|
NM_001165963.4(SCN1A):c.4477-3T>C
|
rs1690013843
|
|
NM_001165963.4(SCN1A):c.4490del (p.Asp1497fs)
|
rs1690011364
|
|
NM_001165963.4(SCN1A):c.4501_4502insGAGAAGAA (p.Thr1501fs)
|
|
|
NM_001165963.4(SCN1A):c.4507G>A (p.Glu1503Lys)
|
|
|
NM_001165963.4(SCN1A):c.4510C>A (p.Gln1504Lys)
|
rs1553521530
|
|
NM_001165963.4(SCN1A):c.4511del (p.Gln1504fs)
|
|
|
NM_001165963.4(SCN1A):c.4512G>C (p.Gln1504His)
|
rs1559114837
|
|
NM_001165963.4(SCN1A):c.4515_4516del (p.Lys1506fs)
|
rs2105462303
|
|
NM_001165963.4(SCN1A):c.4521C>A (p.Tyr1507Ter)
|
rs750997506
|
|
NM_001165963.4(SCN1A):c.4529C>T (p.Ala1510Val)
|
rs796053019
|
|
NM_001165963.4(SCN1A):c.4531del (p.Ala1510_Met1511insTer)
|
rs1690001575
|
|
NM_001165963.4(SCN1A):c.4537A>T (p.Lys1513Ter)
|
|
|
NM_001165963.4(SCN1A):c.4539dup (p.Leu1514fs)
|
rs1573973548
|
|
NM_001165963.4(SCN1A):c.4541T>G (p.Leu1514Ter)
|
rs121918764
|
|
NM_001165963.4(SCN1A):c.4543G>A (p.Gly1515Arg)
|
rs796053020
|
|
NM_001165963.4(SCN1A):c.4543G>C (p.Gly1515Arg)
|
rs796053020
|
|
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter)
|
rs139300715
|
|
NM_001165963.4(SCN1A):c.4547C>G (p.Ser1516Trp)
|
rs139300715
|
|
NM_001165963.4(SCN1A):c.4549A>T (p.Lys1517Ter)
|
rs794726835
|
|
NM_001165963.4(SCN1A):c.4554del (p.Lys1518fs)
|
rs794726825
|
|
NM_001165963.4(SCN1A):c.4554dup (p.Pro1519fs)
|
rs794726825
|
|
NM_001165963.4(SCN1A):c.4555C>A (p.Pro1519Thr)
|
rs796053021
|
|
NM_001165963.4(SCN1A):c.4555C>T (p.Pro1519Ser)
|
rs796053021
|
|
NM_001165963.4(SCN1A):c.4557del (p.Gln1520fs)
|
|
|
NM_001165963.4(SCN1A):c.4565del (p.Pro1522fs)
|
rs1689992185
|
|
NM_001165963.4(SCN1A):c.4571del (p.Pro1524fs)
|
rs1689990205
|
|
NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter)
|
rs794726752
|
|
NM_001165963.4(SCN1A):c.4573_4581del (p.Arg1525_Gly1527del)
|
|
|
NM_001165963.4(SCN1A):c.4577C>G (p.Pro1526Arg)
|
rs796053022
|
|
NM_001165963.4(SCN1A):c.4581+1G>A
|
rs1689986058
|
|
NM_001165963.4(SCN1A):c.4581+2del
|
rs1689985819
|
|
NM_001165963.4(SCN1A):c.4581+5G>C
|
rs1559114303
|
|
NM_001165963.4(SCN1A):c.4582-1G>C
|
rs2105449923
|
|
NM_001165963.4(SCN1A):c.4582-2A>G
|
rs2105449932
|
|
NM_001165963.4(SCN1A):c.4584C>A (p.Asn1528Lys)
|
rs398123597
|
|
NM_001165963.4(SCN1A):c.4594G>T (p.Gly1532Ter)
|
|
|
NM_001165963.4(SCN1A):c.4601T>A (p.Val1534Asp)
|
rs2105449751
|
|
NM_001165963.4(SCN1A):c.4611_4645dup (p.Ile1549delinsThrTer)
|
rs794726757
|
|
NM_001165963.4(SCN1A):c.4620_4627del (p.Arg1540fs)
|
|
|
NM_001165963.4(SCN1A):c.4631A>G (p.Asp1544Gly)
|
rs1573964628
|
|
NM_001165963.4(SCN1A):c.4633A>G (p.Ile1545Val)
|
rs121917975
|
|
NM_001165963.4(SCN1A):c.4656T>A (p.Cys1552Ter)
|
rs1553521051
|
|
NM_001165963.4(SCN1A):c.4676T>G (p.Met1559Arg)
|
rs1689707865
|
|
NM_001165963.4(SCN1A):c.4688_4692del (p.Asp1563fs)
|
rs1559110846
|
|
NM_001165963.4(SCN1A):c.4693C>T (p.Gln1565Ter)
|
rs1386425283
|
|
NM_001165963.4(SCN1A):c.4704T>A (p.Tyr1568Ter)
|
rs1573963975
|
|
NM_001165963.4(SCN1A):c.4757G>A (p.Gly1586Glu)
|
rs121918742
|
|
NM_001165963.4(SCN1A):c.4762T>C (p.Cys1588Arg)
|
rs121917919
|
|
NM_001165963.4(SCN1A):c.4763G>A (p.Cys1588Tyr)
|
rs1553520982
|
|
NM_001165963.4(SCN1A):c.4766T>G (p.Val1589Gly)
|
rs764037830
|
|
NM_001165963.4(SCN1A):c.4769T>C (p.Leu1590Pro)
|
|
|
NM_001165963.4(SCN1A):c.4772A>T (p.Lys1591Ile)
|
rs1689685377
|
|
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.4789_4792del (p.His1597fs)
|
rs1689680658
|
|
NM_001165963.4(SCN1A):c.4795T>G (p.Tyr1599Asp)
|
rs1689679432
|
|
NM_001165963.4(SCN1A):c.4807G>T (p.Gly1603Ter)
|
rs761333438
|
|
NM_001165963.4(SCN1A):c.4811G>A (p.Trp1604Ter)
|
rs794726800
|
|
NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr)
|
rs121917915
|
|
NM_001165963.4(SCN1A):c.4823del (p.Asp1608fs)
|
rs794726785
|
|
NM_001165963.4(SCN1A):c.4829_4830dup (p.Val1611fs)
|
rs794726850
|
|
NM_001165963.4(SCN1A):c.4831G>T (p.Val1611Phe)
|
rs121918630
|
|
NM_001165963.4(SCN1A):c.4833dup (p.Val1612fs)
|
|
|
NM_001165963.4(SCN1A):c.4847T>C (p.Ile1616Thr)
|
rs2105447247
|
|
NM_001165963.4(SCN1A):c.4852+1G>A
|
rs1573962555
|
|
NM_001165963.4(SCN1A):c.4852+1G>T
|
rs1573962555
|
|
NM_001165963.4(SCN1A):c.4852+2T>C
|
|
|
NM_001165963.4(SCN1A):c.4852+5G>C
|
|
|
NM_001165963.4(SCN1A):c.4853-1G>C
|
rs1553520530
|
|
NM_001165963.4(SCN1A):c.4854_4855insTA (p.Met1619Ter)
|
|
|
NM_001165963.4(SCN1A):c.4855_4858dup (p.Phe1620fs)
|
|
|
NM_001165963.4(SCN1A):c.4862T>C (p.Leu1621Pro)
|
rs1573953706
|
|
NM_001165963.4(SCN1A):c.4875_4918dup (p.Leu1640delinsGlnLysSerIleSerCysProLeuProCysSerGluTer)
|
rs2105434895
|
|
NM_001165963.4(SCN1A):c.4879_4883dup (p.Tyr1628Ter)
|
rs794726701
|
|
NM_001165963.4(SCN1A):c.4884T>A (p.Tyr1628Ter)
|
|
|
NM_001165963.4(SCN1A):c.4888G>A (p.Val1630Met)
|
rs121917914
|
|
NM_001165963.4(SCN1A):c.4888G>C (p.Val1630Leu)
|
|
|
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.4913T>A (p.Ile1638Asn)
|
|
|
NM_001165963.4(SCN1A):c.4915C>G (p.Arg1639Gly)
|
rs1573953030
|
|
NM_001165963.4(SCN1A):c.4915del (p.Arg1639fs)
|
|
|
NM_001165963.4(SCN1A):c.4921G>A (p.Ala1641Thr)
|
rs2105434822
|
|
NM_001165963.4(SCN1A):c.4925G>T (p.Arg1642Met)
|
rs1573952908
|
|
NM_001165963.4(SCN1A):c.4926G>C (p.Arg1642Ser)
|
rs1131691581
|
|
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.4934G>C (p.Arg1645Pro)
|
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.4952A>C (p.Lys1651Thr)
|
rs1553520446
|
|
NM_001165963.4(SCN1A):c.4958C>T (p.Ala1653Val)
|
|
|
NM_001165963.4(SCN1A):c.4964_4965del (p.Gly1655fs)
|
rs1573952473
|
|
NM_001165963.4(SCN1A):c.4966_4969dup (p.Arg1657fs)
|
rs2105434276
|
|
NM_001165963.4(SCN1A):c.4968C>G (p.Ile1656Met)
|
rs121917955
|
|
NM_001165963.4(SCN1A):c.4969del (p.Arg1657fs)
|
rs1689347935
|
|
NM_001165963.4(SCN1A):c.4970G>A (p.Arg1657His)
|
rs121917994
|
|
NM_001165963.4(SCN1A):c.4973C>A (p.Thr1658Lys)
|
rs121917922
|
|
NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met)
|
rs121917922
|
|
NM_001165963.4(SCN1A):c.4976T>C (p.Leu1659Pro)
|
rs1559105368
|
|
NM_001165963.4(SCN1A):c.4979T>C (p.Leu1660Pro)
|
rs1131691675
|
|
NM_001165963.4(SCN1A):c.4980_4981del (p.Phe1661fs)
|
rs1559105301
|
|
NM_001165963.4(SCN1A):c.4985C>T (p.Ala1662Val)
|
rs794726839
|
|
NM_001165963.4(SCN1A):c.4993_4996dup (p.Ser1666fs)
|
rs794726819
|
|
NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe)
|
rs794726760
|
|
NM_001165963.4(SCN1A):c.4999del (p.Leu1667fs)
|
rs2105433855
|
|
NM_001165963.4(SCN1A):c.5000T>C (p.Leu1667Pro)
|
rs1131691774
|
|
NM_001165963.4(SCN1A):c.5003C>G (p.Pro1668Arg)
|
rs794726698
|
|
NM_001165963.4(SCN1A):c.5003del (p.Pro1668fs)
|
rs794726758
|
|
NM_001165963.4(SCN1A):c.5005G>A (p.Ala1669Thr)
|
rs2105433731
|
|
NM_001165963.4(SCN1A):c.5006C>A (p.Ala1669Glu)
|
rs397514458
|
|
NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs)
|
rs794726754
|
|
NM_001165963.4(SCN1A):c.5013dup (p.Asn1672Ter)
|
|
|
NM_001165963.4(SCN1A):c.5014A>C (p.Asn1672His)
|
rs794726740
|
|
NM_001165963.4(SCN1A):c.5016del (p.Asn1672fs)
|
rs2105433569
|
|
NM_001165963.4(SCN1A):c.5020G>A (p.Gly1674Ser)
|
rs121918792
|
|
NM_001165963.4(SCN1A):c.5029C>T (p.Leu1677Phe)
|
rs2105433326
|
|
NM_001165963.4(SCN1A):c.5035del (p.Phe1678_Leu1679insTer)
|
|
|
NM_001165963.4(SCN1A):c.5039T>A (p.Val1680Asp)
|
rs1553520380
|
|
NM_001165963.4(SCN1A):c.5045del (p.Phe1682fs)
|
rs2105433161
|
|
NM_001165963.4(SCN1A):c.5048T>C (p.Ile1683Thr)
|
rs2105433108
|
|
NM_001165963.4(SCN1A):c.5051A>G (p.Tyr1684Cys)
|
rs1689321394
|
|
NM_001165963.4(SCN1A):c.5052C>A (p.Tyr1684Ter)
|
rs1433806086
|
|
NM_001165963.4(SCN1A):c.5054C>T (p.Ala1685Val)
|
rs121918744
|
|
NM_001165963.4(SCN1A):c.5062G>A (p.Gly1688Arg)
|
rs2105432939
|
|
NM_001165963.4(SCN1A):c.5063G>T (p.Gly1688Val)
|
rs794726851
|
|
NM_001165963.4(SCN1A):c.5081A>G (p.Tyr1694Cys)
|
rs121918777
|
|
NM_001165963.4(SCN1A):c.5082T>G (p.Tyr1694Ter)
|
rs794726748
|
|
NM_001165963.4(SCN1A):c.5087del (p.Lys1696fs)
|
rs1689309551
|
|
NM_001165963.4(SCN1A):c.5106T>A (p.Asp1702Glu)
|
rs794726804
|
|
NM_001165963.4(SCN1A):c.5108A>T (p.Asp1703Val)
|
rs794726802
|
|
NM_001165963.4(SCN1A):c.5108del (p.Asp1703fs)
|
rs1689300152
|
|
NM_001165963.4(SCN1A):c.5120T>C (p.Phe1707Ser)
|
rs2105432236
|
|
NM_001165963.4(SCN1A):c.5122G>A (p.Glu1708Lys)
|
|
|
NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile)
|
rs121918629
|
|
NM_001165963.4(SCN1A):c.5138G>T (p.Ser1713Ile)
|
rs121918816
|
|
NM_001165963.4(SCN1A):c.5150T>G (p.Leu1717Arg)
|
|
|
NM_001165963.4(SCN1A):c.5157A>C (p.Gln1719His)
|
rs1689285717
|
|
NM_001165963.4(SCN1A):c.5167T>C (p.Ser1723Pro)
|
rs1553520320
|
|
NM_001165963.4(SCN1A):c.5170G>A (p.Ala1724Thr)
|
|
|
NM_001165963.4(SCN1A):c.5171C>T (p.Ala1724Val)
|
rs1553520319
|
|
NM_001165963.4(SCN1A):c.5177G>A (p.Trp1726Ter)
|
|
|
NM_001165963.4(SCN1A):c.5177G>C (p.Trp1726Ser)
|
rs2105431458
|
|
NM_001165963.4(SCN1A):c.5179G>C (p.Asp1727His)
|
rs1689278461
|
|
NM_001165963.4(SCN1A):c.5182G>C (p.Gly1728Arg)
|
|
|
NM_001165963.4(SCN1A):c.5182_5198del (p.Gly1728fs)
|
rs1553520298
|
|
NM_001165963.4(SCN1A):c.5183G>A (p.Gly1728Glu)
|
rs2105431330
|
|
NM_001165963.4(SCN1A):c.5195C>T (p.Pro1732Leu)
|
rs2105431242
|
|
NM_001165963.4(SCN1A):c.5198_5201dup (p.Asn1735fs)
|
rs2105431162
|
|
NM_001165963.4(SCN1A):c.5209_5210del (p.Lys1737fs)
|
rs2105431024
|
|
NM_001165963.4(SCN1A):c.5212_5213del (p.Pro1738fs)
|
rs1689272728
|
|
NM_001165963.4(SCN1A):c.5217del (p.Asp1740fs)
|
rs1573949198
|
|
NM_001165963.4(SCN1A):c.5218G>A (p.Asp1740Asn)
|
rs796053035
|
|
NM_001165963.4(SCN1A):c.5222G>A (p.Cys1741Tyr)
|
rs794726763
|
|
NM_001165963.4(SCN1A):c.5222G>C (p.Cys1741Ser)
|
rs794726763
|
|
NM_001165963.4(SCN1A):c.5245G>A (p.Gly1749Arg)
|
rs1057518258
|
|
NM_001165963.4(SCN1A):c.5250_5251insGG (p.Ser1751fs)
|
rs794726702
|
|
NM_001165963.4(SCN1A):c.5250_5252del (p.Ser1750_Ser1751delinsArg)
|
rs794726703
|
|
NM_001165963.4(SCN1A):c.5261G>A (p.Gly1754Glu)
|
rs796053036
|
|
NM_001165963.4(SCN1A):c.5261G>C (p.Gly1754Ala)
|
|
|
NM_001165963.4(SCN1A):c.5263G>T (p.Asp1755Tyr)
|
rs927722314
|
|
NM_001165963.4(SCN1A):c.5264A>G (p.Asp1755Gly)
|
rs794726722
|
|
NM_001165963.4(SCN1A):c.5267G>A (p.Cys1756Tyr)
|
rs1559103294
|
|
NM_001165963.4(SCN1A):c.5269G>A (p.Gly1757Arg)
|
rs1553520227
|
|
NM_001165963.4(SCN1A):c.5269G>C (p.Gly1757Arg)
|
rs1553520227
|
|
NM_001165963.4(SCN1A):c.5270G>A (p.Gly1757Glu)
|
rs1085307930
|
|
NM_001165963.4(SCN1A):c.5273_5277del (p.Asn1758fs)
|
rs796053085
|
|
NM_001165963.4(SCN1A):c.5281_5282del (p.Val1761fs)
|
|
|
NM_001165963.4(SCN1A):c.5284_5291dup (p.Phe1764fs)
|
rs794726814
|
|
NM_001165963.4(SCN1A):c.5285G>A (p.Gly1762Glu)
|
rs121917950
|
|
NM_001165963.4(SCN1A):c.5293T>C (p.Phe1765Leu)
|
rs1689251604
|
|
NM_001165963.4(SCN1A):c.5294T>C (p.Phe1765Ser)
|
|
|
NM_001165963.4(SCN1A):c.5296_5298del (p.Phe1766del)
|
rs794726832
|
|
NM_001165963.4(SCN1A):c.5297_5298del (p.Phe1766fs)
|
rs794726832
|
|
NM_001165963.4(SCN1A):c.5300T>A (p.Val1767Asp)
|
rs2105429648
|
|
NM_001165963.4(SCN1A):c.5302A>G (p.Ser1768Gly)
|
rs2105429627
|
|
NM_001165963.4(SCN1A):c.5309T>A (p.Ile1770Asn)
|
|
|
NM_001165963.4(SCN1A):c.5312T>G (p.Ile1771Ser)
|
rs1253117981
|
|
NM_001165963.4(SCN1A):c.5315_5316insC (p.Ser1773fs)
|
rs2105429444
|
|
NM_001165963.4(SCN1A):c.5317T>C (p.Ser1773Pro)
|
|
|
NM_001165963.4(SCN1A):c.5318C>A (p.Ser1773Tyr)
|
rs121917951
|
|
NM_001165963.4(SCN1A):c.5318C>T (p.Ser1773Phe)
|
rs121917951
|
|
NM_001165963.4(SCN1A):c.5318_5324del (p.Ser1773fs)
|
rs2105429397
|
|
NM_001165963.4(SCN1A):c.5321T>C (p.Phe1774Ser)
|
|
|
NM_001165963.4(SCN1A):c.5322C>A (p.Phe1774Leu)
|
|
|
NM_001165963.4(SCN1A):c.5323del (p.Leu1775fs)
|
|
|
NM_001165963.4(SCN1A):c.5334del (p.Asn1779fs)
|
rs794726783
|
|
NM_001165963.4(SCN1A):c.5339T>C (p.Met1780Thr)
|
rs121917952
|
|
NM_001165963.4(SCN1A):c.5341T>C (p.Tyr1781His)
|
rs1689242255
|
|
NM_001165963.4(SCN1A):c.5343del (p.Met1780_Tyr1781insTer)
|
rs1689241423
|
|
NM_001165963.4(SCN1A):c.5346C>G (p.Ile1782Met)
|
rs121918763
|
|
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.5349_5352dup (p.Ile1785fs)
|
rs794726741
|
|
NM_001165963.4(SCN1A):c.5371_5372del (p.Val1791fs)
|
rs2105428710
|
|
NM_001165963.4(SCN1A):c.5374G>A (p.Ala1792Thr)
|
rs2105428686
|
|
NM_001165963.4(SCN1A):c.5379del (p.Glu1794fs)
|
rs2105428629
|
|
NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys)
|
rs121918813
|
|
NM_001165963.4(SCN1A):c.5383G>T (p.Glu1795Ter)
|
rs121918813
|
|
NM_001165963.4(SCN1A):c.5388T>A (p.Ser1796Arg)
|
rs1689228485
|
|
NM_001165963.4(SCN1A):c.5399T>G (p.Leu1800Arg)
|
rs2105428344
|
|
NM_001165963.4(SCN1A):c.5399del (p.Leu1800fs)
|
rs1573946994
|
|
NM_001165963.4(SCN1A):c.5404G>T (p.Glu1802Ter)
|
rs794726780
|
|
NM_001165963.4(SCN1A):c.5426del (p.Tyr1809fs)
|
rs1689218857
|
|
NM_001165963.4(SCN1A):c.5436G>A (p.Trp1812Ter)
|
rs863225037
|
|
NM_001165963.4(SCN1A):c.5444T>C (p.Phe1815Ser)
|
rs1689211569
|
|
NM_001165963.4(SCN1A):c.5461C>T (p.Gln1821Ter)
|
rs794726781
|
|
NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr)
|
rs1559101839
|
|
NM_001165963.4(SCN1A):c.5470G>T (p.Glu1824Ter)
|
rs794726769
|
|
NM_001165963.4(SCN1A):c.5476G>T (p.Glu1826Ter)
|
rs1553520107
|
|
NM_001165963.4(SCN1A):c.5479A>T (p.Lys1827Ter)
|
rs1553520105
|
|
NM_001165963.4(SCN1A):c.5481del (p.Lys1827fs)
|
|
|
NM_001165963.4(SCN1A):c.5485_5489del (p.Ser1829fs)
|
|
|
NM_001165963.4(SCN1A):c.5488C>T (p.Gln1830Ter)
|
rs1553520103
|
|
NM_001165963.4(SCN1A):c.5488_5489del (p.Gln1830fs)
|
rs1689200375
|
|
NM_001165963.4(SCN1A):c.5489dup (p.Phe1831fs)
|
rs1573945872
|
|
NM_001165963.4(SCN1A):c.5492T>A (p.Phe1831Tyr)
|
rs121918748
|
|
NM_001165963.4(SCN1A):c.5495_5496insT (p.Ala1833fs)
|
rs1559101585
|
|
NM_001165963.4(SCN1A):c.5503C>T (p.Leu1835Phe)
|
|
|
NM_001165963.4(SCN1A):c.5506G>T (p.Glu1836Ter)
|
rs1064795579
|
|
NM_001165963.4(SCN1A):c.5513C>T (p.Pro1838Leu)
|
|
|
NM_001165963.4(SCN1A):c.5515C>G (p.Leu1839Val)
|
rs794726801
|
|
NM_001165963.4(SCN1A):c.5527C>T (p.Gln1843Ter)
|
rs1553520078
|
|
NM_001165963.4(SCN1A):c.5536A>T (p.Lys1846Ter)
|
rs372098964
|
|
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs)
|
rs794726726
|
|
NM_001165963.4(SCN1A):c.5540_5543dup (p.Gln1848fs)
|
rs2105426446
|
|
NM_001165963.4(SCN1A):c.5542C>T (p.Gln1848Ter)
|
rs2105426467
|
|
NM_001165963.4(SCN1A):c.5555T>C (p.Met1852Thr)
|
rs121918783
|
|
NM_001165963.4(SCN1A):c.5561dup (p.Leu1854fs)
|
rs2105426198
|
|
NM_001165963.4(SCN1A):c.5564C>A (p.Pro1855His)
|
|
|
NM_001165963.4(SCN1A):c.5567T>G (p.Met1856Arg)
|
|
|
NM_001165963.4(SCN1A):c.5569del (p.Met1856_Val1857insTer)
|
|
|
NM_001165963.4(SCN1A):c.5576del (p.Gly1859fs)
|
rs2105425898
|
|
NM_001165963.4(SCN1A):c.5594_5595dup (p.Asp1866fs)
|
rs2105425687
|
|
NM_001165963.4(SCN1A):c.5600T>C (p.Ile1867Thr)
|
rs1131691773
|
|
NM_001165963.4(SCN1A):c.5613del (p.Phe1871fs)
|
|
|
NM_001165963.4(SCN1A):c.5636del (p.Ser1879fs)
|
rs2105425094
|
|
NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter)
|
rs779614747
|
|
NM_001165963.4(SCN1A):c.5662C>T (p.Gln1888Ter)
|
rs794726845
|
|
NM_001165963.4(SCN1A):c.5662_5663del (p.Gln1888fs)
|
rs2105424748
|
|
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter)
|
rs794726739
|
|
NM_001165963.4(SCN1A):c.5697del (p.Lys1900fs)
|
rs1689156608
|
|
NM_001165963.4(SCN1A):c.5708_5711dup (p.Pro1905fs)
|
rs796053086
|
|
NM_001165963.4(SCN1A):c.5709T>A (p.Tyr1903Ter)
|
|
|
NM_001165963.4(SCN1A):c.5710C>T (p.Gln1904Ter)
|
rs796053103
|
|
NM_001165963.4(SCN1A):c.5711del (p.Gln1904fs)
|
rs2105424093
|
|
NM_001165963.4(SCN1A):c.5719ACT[2] (p.Thr1909del)
|
rs1553519902
|
|
NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile)
|
rs121918793
|
|
NM_001165963.4(SCN1A):c.5734C>G (p.Arg1912Gly)
|
|
|
NM_001165963.4(SCN1A):c.5734C>T (p.Arg1912Ter)
|
rs77216276
|
|
NM_001165963.4(SCN1A):c.5753C>T (p.Ser1918Phe)
|
rs796053048
|
|
NM_001165963.4(SCN1A):c.5754del (p.Ala1919fs)
|
rs1553519872
|
|
NM_001165963.4(SCN1A):c.5757_5770del (p.Val1920fs)
|
|
|
NM_001165963.4(SCN1A):c.5765T>C (p.Ile1922Thr)
|
rs121917981
|
|
NM_001165963.4(SCN1A):c.5765T>G (p.Ile1922Ser)
|
rs121917981
|
|
NM_001165963.4(SCN1A):c.5767C>T (p.Gln1923Ter)
|
|
|
NM_001165963.4(SCN1A):c.5769G>C (p.Gln1923His)
|
rs2105423415
|
|
NM_001165963.4(SCN1A):c.5769G>T (p.Gln1923His)
|
rs2105423415
|
|
NM_001165963.4(SCN1A):c.5780G>C (p.Arg1927Thr)
|
rs794726737
|
|
NM_001165963.4(SCN1A):c.5797del (p.Arg1933fs)
|
rs587780446
|
|