NC_000002.12:g.166051989del
|
rs1574266816
|
|
NM_001165963.1(SCN1A):c.384_964del
|
|
|
NM_001165963.1(SCN1A):c.4285_4476del
|
|
|
NM_001165963.4(SCN1A):c.1005del (p.Cys336fs)
|
|
|
NM_001165963.4(SCN1A):c.1007G>A (p.Cys336Tyr)
|
rs794726798
|
|
NM_001165963.4(SCN1A):c.1024G>T (p.Ala342Ser)
|
rs794726843
|
|
NM_001165963.4(SCN1A):c.1025C>T (p.Ala342Val)
|
rs794726797
|
|
NM_001165963.4(SCN1A):c.1028+1G>A
|
rs863225030
|
|
NM_001165963.4(SCN1A):c.1028+1G>T
|
rs863225030
|
|
NM_001165963.4(SCN1A):c.1033T>C (p.Cys345Arg)
|
rs794726782
|
|
NM_001165963.4(SCN1A):c.1046A>G (p.Tyr349Cys)
|
rs794726844
|
|
NM_001165963.4(SCN1A):c.1048A>G (p.Met350Val)
|
rs794726768
|
|
NM_001165963.4(SCN1A):c.1055_1056del (p.Val352fs)
|
rs794726767
|
|
NM_001165963.4(SCN1A):c.1060G>C (p.Ala354Pro)
|
rs1698022280
|
|
NM_001165963.4(SCN1A):c.1072C>T (p.Pro358Ser)
|
rs121917923
|
|
NM_001165963.4(SCN1A):c.1076A>G (p.Asn359Ser)
|
rs794726713
|
|
NM_001165963.4(SCN1A):c.1096_1115del (p.Asp366fs)
|
rs794726792
|
|
NM_001165963.4(SCN1A):c.1118del (p.Leu373fs)
|
rs794726695
|
|
NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter)
|
rs794726799
|
|
NM_001165963.4(SCN1A):c.1130G>A (p.Arg377Gln)
|
rs121917957
|
|
NM_001165963.4(SCN1A):c.1133del (p.Leu378fs)
|
rs1698004184
|
|
NM_001165963.4(SCN1A):c.1134_1136del (p.Met379del)
|
rs2105867004
|
|
NM_001165963.4(SCN1A):c.1136T>A (p.Met379Lys)
|
rs794726732
|
|
NM_001165963.4(SCN1A):c.1146C>A (p.Asp382Glu)
|
rs794726753
|
|
NM_001165963.4(SCN1A):c.1164delinsGG (p.Tyr388Ter)
|
rs1697997770
|
|
NM_001165963.4(SCN1A):c.1170+1G>T
|
rs794726765
|
|
NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys)
|
rs121917929
|
|
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His)
|
rs121917927
|
|
NM_001165963.4(SCN1A):c.1178delinsTTAC (p.Arg393delinsLeuThr)
|
|
|
NM_001165963.4(SCN1A):c.1182_1183insA (p.Ala395fs)
|
rs794726777
|
|
NM_001165963.4(SCN1A):c.1183_1184del (p.Ala395fs)
|
rs794726776
|
|
NM_001165963.4(SCN1A):c.1186G>A (p.Gly396Arg)
|
|
|
NM_001165963.4(SCN1A):c.1197_1198del (p.Met400fs)
|
rs794726818
|
|
NM_001165963.4(SCN1A):c.1199T>A (p.Met400Lys)
|
rs794726725
|
|
NM_001165963.4(SCN1A):c.1216G>T (p.Val406Phe)
|
rs121918768
|
|
NM_001165963.4(SCN1A):c.121A>T (p.Lys41Ter)
|
rs764444350
|
|
NM_001165963.4(SCN1A):c.1237T>A (p.Tyr413Asn)
|
rs121917967
|
|
NM_001165963.4(SCN1A):c.1259C>T (p.Ala420Val)
|
rs794726826
|
|
NM_001165963.4(SCN1A):c.1265T>C (p.Val422Ala)
|
rs121917989
|
|
NM_001165963.4(SCN1A):c.126del (p.Asp43fs)
|
rs1553560831
|
|
NM_001165963.4(SCN1A):c.126dup (p.Asp43fs)
|
rs1553560831
|
|
NM_001165963.4(SCN1A):c.1285C>A (p.Gln429Lys)
|
|
|
NM_001165963.4(SCN1A):c.1301del (p.Leu434fs)
|
rs794726810
|
|
NM_001165963.4(SCN1A):c.1345G>T (p.Glu449Ter)
|
rs794726807
|
|
NM_001165963.4(SCN1A):c.1354A>T (p.Lys452Ter)
|
rs1553546668
|
|
NM_001165963.4(SCN1A):c.1377+1G>A
|
|
|
NM_001165963.4(SCN1A):c.141del (p.Asn47fs)
|
rs796053076
|
|
NM_001165963.4(SCN1A):c.1442_1445del (p.Asp481fs)
|
rs794726829
|
|
NM_001165963.4(SCN1A):c.1489del (p.Arg497fs)
|
rs1697667767
|
|
NM_001165963.4(SCN1A):c.1516C>T (p.Gln506Ter)
|
rs794726790
|
|
NM_001165963.4(SCN1A):c.1543A>T (p.Lys515Ter)
|
rs1553545567
|
|
NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter)
|
|
|
NM_001165963.4(SCN1A):c.1639_1640del (p.Lys547fs)
|
rs2105850165
|
|
NM_001165963.4(SCN1A):c.1660dup (p.Gln554fs)
|
rs794726717
|
|
NM_001165963.4(SCN1A):c.1662+1G>C
|
rs794726749
|
|
NM_001165963.4(SCN1A):c.1662+1G>T
|
rs794726749
|
|
NM_001165963.4(SCN1A):c.1662+3A>G
|
rs794726773
|
|
NM_001165963.4(SCN1A):c.1663_2176del (p.Ser555Asnfs*21)
|
|
|
NM_001165963.4(SCN1A):c.1667del (p.Leu556fs)
|
rs794726704
|
|
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter)
|
rs886039430
|
|
NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter)
|
rs794726736
|
|
NM_001165963.4(SCN1A):c.1804G>T (p.Glu602Ter)
|
rs794726834
|
|
NM_001165963.4(SCN1A):c.181del (p.Leu61fs)
|
rs2105982815
|
|
NM_001165963.4(SCN1A):c.1834C>T (p.Arg612Ter)
|
rs794726778
|
|
NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter)
|
rs398123585
|
|
NM_001165963.4(SCN1A):c.185del (p.Pro62fs)
|
rs35595680
|
|
NM_001165963.4(SCN1A):c.1876A>G (p.Ser626Gly)
|
rs121917990
|
|
NM_001165963.4(SCN1A):c.1970C>T (p.Pro657Leu)
|
rs794726838
|
|
NM_001165963.4(SCN1A):c.2044_6030del
|
|
|
NM_001165963.4(SCN1A):c.2071A>T (p.Lys691Ter)
|
rs794726747
|
|
NM_001165963.4(SCN1A):c.207del (p.Pro70fs)
|
rs1574371902
|
|
NM_001165963.4(SCN1A):c.2100del (p.Met701fs)
|
rs794726806
|
|
NM_001165963.4(SCN1A):c.2131C>T (p.Gln711Ter)
|
rs1574209023
|
|
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter)
|
rs794726730
|
|
NM_001165963.4(SCN1A):c.2147_2150del (p.Ile716fs)
|
rs1574208760
|
|
NM_001165963.4(SCN1A):c.2176+3T>A
|
rs794726795
|
|
NM_001165963.4(SCN1A):c.2213G>A (p.Trp738Ter)
|
rs794726742
|
|
NM_001165963.4(SCN1A):c.2213G>T (p.Trp738Leu)
|
rs794726742
|
|
NM_001165963.4(SCN1A):c.2214G>A (p.Trp738Ter)
|
rs786205214
|
|
NM_001165963.4(SCN1A):c.2261G>T (p.Trp754Leu)
|
rs794726743
|
|
NM_001165963.4(SCN1A):c.2299_2302dup (p.Pro768fs)
|
rs794726750
|
|
NM_001165963.4(SCN1A):c.2303C>T (p.Pro768Leu)
|
rs794726766
|
|
NM_001165963.4(SCN1A):c.2318_2319insT (p.Ile774fs)
|
rs794726820
|
|
NM_001165963.4(SCN1A):c.2344A>C (p.Thr782Pro)
|
|
|
NM_001165963.4(SCN1A):c.2353A>G (p.Met785Val)
|
rs767045134
|
|
NM_001165963.4(SCN1A):c.2415+1G>A
|
rs886041292
|
|
NM_001165963.4(SCN1A):c.241G>A (p.Asp81Asn)
|
|
|
NM_001165963.4(SCN1A):c.2479T>G (p.Tyr827Asp)
|
rs794726805
|
|
NM_001165963.4(SCN1A):c.249C>A (p.Tyr83Ter)
|
rs863225031
|
|
NM_001165963.4(SCN1A):c.2523_2524del (p.Thr841_Leu842insTer)
|
rs794726738
|
|
NM_001165963.4(SCN1A):c.2537A>G (p.Glu846Gly)
|
rs794726794
|
|
NM_001165963.4(SCN1A):c.2584C>G (p.Arg862Gly)
|
rs397514459
|
|
NM_001165963.4(SCN1A):c.2584C>T (p.Arg862Ter)
|
rs397514459
|
|
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln)
|
rs121918785
|
|
NM_001165963.4(SCN1A):c.2588T>G (p.Leu863Trp)
|
rs794726712
|
|
NM_001165963.4(SCN1A):c.2589+3A>T
|
rs794726775
|
|
NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter)
|
rs794726697
|
|
NM_001165963.4(SCN1A):c.2603del (p.Lys868fs)
|
rs794726787
|
|
NM_001165963.4(SCN1A):c.2615C>A (p.Ser872Tyr)
|
rs794726786
|
|
NM_001165963.4(SCN1A):c.2618G>A (p.Trp873Ter)
|
rs2105808640
|
|
NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met)
|
rs121918623
|
|
NM_001165963.4(SCN1A):c.262_264+1del
|
rs1574371141
|
|
NM_001165963.4(SCN1A):c.264+5G>A
|
rs794726762
|
|
NM_001165963.4(SCN1A):c.264+5G>C
|
rs794726762
|
|
NM_001165963.4(SCN1A):c.2678T>A (p.Leu893Ter)
|
rs794726815
|
|
NM_001165963.4(SCN1A):c.2680dup (p.Thr894fs)
|
rs1696660743
|
|
NM_001165963.4(SCN1A):c.2690T>C (p.Leu897Ser)
|
rs794726761
|
|
NM_001165963.4(SCN1A):c.2691G>T (p.Leu897Phe)
|
rs1574183148
|
|
NM_001165963.4(SCN1A):c.269T>C (p.Phe90Ser)
|
rs121918733
|
|
NM_001165963.4(SCN1A):c.2728C>A (p.Gln910Lys)
|
rs794726721
|
|
NM_001165963.4(SCN1A):c.272T>C (p.Ile91Thr)
|
rs121918734
|
|
NM_001165963.4(SCN1A):c.2758_2759del (p.Val920fs)
|
rs1574182550
|
|
NM_001165963.4(SCN1A):c.2780G>T (p.Cys927Phe)
|
rs794726811
|
|
NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys)
|
rs121918788
|
|
NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His)
|
rs794726718
|
|
NM_001165963.4(SCN1A):c.2792G>C (p.Arg931Pro)
|
rs794726718
|
|
NM_001165963.4(SCN1A):c.2815C>T (p.His939Tyr)
|
rs121918736
|
|
NM_001165963.4(SCN1A):c.2836C>T (p.Arg946Cys)
|
rs121918775
|
|
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
|
|
|
NM_001165963.4(SCN1A):c.2837G>C (p.Arg946Pro)
|
rs121917971
|
|
NM_001165963.4(SCN1A):c.2846G>A (p.Cys949Tyr)
|
rs1696624989
|
|
NM_001165963.4(SCN1A):c.2846G>T (p.Cys949Phe)
|
|
|
NM_001165963.4(SCN1A):c.2854T>G (p.Trp952Gly)
|
rs121918737
|
|
NM_001165963.4(SCN1A):c.2862_2863dup (p.Thr955fs)
|
|
|
NM_001165963.4(SCN1A):c.2872_2881del (p.Asp958fs)
|
rs794726808
|
|
NM_001165963.4(SCN1A):c.2876G>A (p.Cys959Tyr)
|
rs794726716
|
|
NM_001165963.4(SCN1A):c.2879T>G (p.Met960Arg)
|
rs794726708
|
|
NM_001165963.4(SCN1A):c.289_292del (p.Lys97fs)
|
rs794726796
|
|
NM_001165963.4(SCN1A):c.2903G>T (p.Cys968Phe)
|
rs794726823
|
|
NM_001165963.4(SCN1A):c.2929G>A (p.Val977Met)
|
rs794726828
|
|
NM_001165963.4(SCN1A):c.2936G>A (p.Gly979Glu)
|
rs794726842
|
|
NM_001165963.4(SCN1A):c.2946+1G>T
|
rs794726772
|
|
NM_001165963.4(SCN1A):c.2946+1_2946+2del
|
rs794726714
|
|
NM_001165963.4(SCN1A):c.2947del
|
rs1696406839
|
|
NM_001165963.4(SCN1A):c.2956C>T (p.Leu986Phe)
|
rs121918625
|
|
NM_001165963.4(SCN1A):c.2980_2981del (p.Ser994fs)
|
rs794726830
|
|
NM_001165963.4(SCN1A):c.2985T>G (p.Phe995Leu)
|
rs794726746
|
|
NM_001165963.4(SCN1A):c.3017del (p.Asp1006fs)
|
rs794726813
|
|
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp)
|
rs121917965
|
|
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln)
|
rs121917918
|
|
NM_001165963.4(SCN1A):c.3062_3066del (p.Lys1021fs)
|
rs794726756
|
|
NM_001165963.4(SCN1A):c.308G>T (p.Ser103Ile)
|
rs760361423
|
|
NM_001165963.4(SCN1A):c.311C>A (p.Ala104Asp)
|
rs1553553527
|
|
NM_001165963.4(SCN1A):c.323T>C (p.Leu108Pro)
|
rs794726793
|
|
NM_001165963.4(SCN1A):c.337C>A (p.Pro113Thr)
|
rs794726711
|
|
NM_001165963.4(SCN1A):c.345T>A (p.Asn115Lys)
|
rs61741123
|
|
NM_001165963.4(SCN1A):c.36del (p.Asp12fs)
|
rs1684704927
|
|
NM_001165963.4(SCN1A):c.380A>T (p.His127Leu)
|
rs794726831
|
|
NM_001165963.4(SCN1A):c.383+1A>G
|
rs794726803
|
|
NM_001165963.4(SCN1A):c.384-1C>G
|
rs794726764
|
|
NM_001165963.4(SCN1A):c.384_1662dup
|
|
|
NM_001165963.4(SCN1A):c.429_430del (p.Phe144fs)
|
rs1699147493
|
|
NM_001165963.4(SCN1A):c.4338_6030del (p.Asn1446_Gly2008del)
|
|
|
NM_001165963.4(SCN1A):c.433A>G (p.Met145Val)
|
rs794726849
|
|
NM_001165963.4(SCN1A):c.434T>C (p.Met145Thr)
|
rs121918631
|
|
NM_001165963.4(SCN1A):c.473+1G>C
|
rs794726840
|
|
NM_001165963.4(SCN1A):c.474-1G>A
|
rs1698962501
|
|
NM_001165963.4(SCN1A):c.474_602del (p.Thr160_Tyr202del)
|
rs1553551314
|
|
NM_001165963.4(SCN1A):c.530G>T (p.Gly177Val)
|
rs121918770
|
|
NM_001165963.4(SCN1A):c.539T>A (p.Leu180Ter)
|
rs1574281711
|
|
NM_001165963.4(SCN1A):c.568T>C (p.Trp190Arg)
|
rs121918773
|
|
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn)
|
rs121917935
|
|
NM_001165963.4(SCN1A):c.591del (p.Ile198fs)
|
rs1698941202
|
|
NM_001165963.4(SCN1A):c.602+1G>A
|
|
|
NM_001165963.4(SCN1A):c.602+1G>T
|
rs794726827
|
|
NM_001165963.4(SCN1A):c.602+3A>C
|
rs794726833
|
|
NM_001165963.4(SCN1A):c.603-2A>G
|
rs1057519531
|
|
NM_001165963.4(SCN1A):c.657_658del (p.Arg219fs)
|
rs1574272192
|
|
NM_001165963.4(SCN1A):c.659_662del (p.Val220fs)
|
rs794726724
|
|
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)
|
rs121918624
|
|
NM_001165963.4(SCN1A):c.675G>C (p.Lys225Asn)
|
rs794726719
|
|
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)
|
rs121917984
|
|
NM_001165963.4(SCN1A):c.680T>G (p.Ile227Ser)
|
rs121917937
|
|
NM_001165963.4(SCN1A):c.684del (p.Val229fs)
|
rs1574271602
|
|
NM_001165963.4(SCN1A):c.689_690insG (p.Ile230fs)
|
rs1698732089
|
|
NM_001165963.4(SCN1A):c.694+5G>C
|
rs727504142
|
|
NM_001165963.4(SCN1A):c.70G>A (p.Ala24Thr)
|
rs794726848
|
|
NM_001165963.4(SCN1A):c.715G>A (p.Ala239Thr)
|
rs121917985
|
|
NM_001165963.4(SCN1A):c.716C>T (p.Ala239Val)
|
rs121917909
|
|
NM_001165963.4(SCN1A):c.728C>A (p.Ser243Tyr)
|
rs794726755
|
|
NM_001165963.4(SCN1A):c.747T>G (p.Asp249Glu)
|
rs773407463
|
|
NM_001165963.4(SCN1A):c.751del (p.Val250_Met251insTer)
|
rs794726751
|
|
NM_001165963.4(SCN1A):c.769T>C (p.Cys257Arg)
|
rs794726771
|
|
NM_001165963.4(SCN1A):c.777C>A (p.Ser259Arg)
|
rs121918735
|
|
NM_001165963.4(SCN1A):c.825_826insGTATA (p.Lys276delinsValTer)
|
rs794726812
|
|
NM_001165963.4(SCN1A):c.826A>C (p.Lys276Gln)
|
rs794726847
|
|
NM_001165963.4(SCN1A):c.835C>T (p.Gln279Ter)
|
|
|
NM_001165963.4(SCN1A):c.838T>C (p.Trp280Arg)
|
rs121917938
|
|
NM_001165963.4(SCN1A):c.839G>A (p.Trp280Ter)
|
rs1698593264
|
|
NM_001165963.4(SCN1A):c.896_905del (p.Asn299fs)
|
rs794726788
|
|
NM_001165963.4(SCN1A):c.930_931dup (p.Glu311fs)
|
rs794726846
|
|
NM_001165963.4(SCN1A):c.939del (p.Trp314fs)
|
|
|
NM_001165963.4(SCN1A):c.947C>A (p.Ser316Ter)
|
|
|
NM_001165963.4(SCN1A):c.964+14T>G
|
rs794726837
|
|
NM_001165963.4(SCN1A):c.965-1G>A
|
rs794726824
|
|
NM_001165963.4(SCN1A):c.965-2A>G
|
|
|
NM_001165963.4(SCN1A):c.985G>T (p.Gly329Cys)
|
rs781746113
|
|
NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val)
|
rs779184118
|
|
NM_001165963.4(SCN1A):c.992dup (p.Leu331fs)
|
rs863225038
|
|
NM_006920.4(SCN1A):c.384_473del (p.Leu129_Glu158del)
|
|
|