ClinVar Miner

List of variants studied for Dravet syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 754
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HGVS dbSNP
GRCh37/hg19 2q24.3(chr2:166767837-167334206)
NC_000001.10:g.(?_151122490)_(151585008_?)dup
NC_000002.11:g.(?_166847704)_(166930181_?)dup
NC_000002.11:g.(?_167055131)_(167168316_?)dup
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.1007G>A (p.Cys336Tyr) rs794726798
NM_001165963.4(SCN1A):c.1024G>T (p.Ala342Ser) rs794726843
NM_001165963.4(SCN1A):c.1025C>A (p.Ala342Glu) rs794726797
NM_001165963.4(SCN1A):c.1025C>T (p.Ala342Val) rs794726797
NM_001165963.4(SCN1A):c.1028G>A (p.Gly343Asp) rs121918753
NM_001165963.4(SCN1A):c.1033T>C (p.Cys345Arg) rs794726782
NM_001165963.4(SCN1A):c.1037C>T (p.Pro346Leu)
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)
NM_001165963.4(SCN1A):c.1066A>G (p.Arg356Gly) rs121917920
NM_001165963.4(SCN1A):c.1072C>A (p.Pro358Thr) rs121917923
NM_001165963.4(SCN1A):c.1072C>G (p.Pro358Ala)
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.1098T>A (p.Asp366Glu) rs121917958
NM_001165963.4(SCN1A):c.1111G>C (p.Ala371Pro)
NM_001165963.4(SCN1A):c.1118T>C (p.Leu373Ser)
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)
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.1149C>G (p.Phe383Leu) rs121917939
NM_001165963.4(SCN1A):c.1164delinsGG (p.Tyr388Ter)
NM_001165963.4(SCN1A):c.1177C>A (p.Arg393Ser) rs121917929
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.1182_1183insA (p.Ala395fs) rs794726777
NM_001165963.4(SCN1A):c.1183_1184del (p.Ala395fs) rs794726776
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.1207T>C (p.Phe403Leu) rs121917966
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482
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.1261G>A (p.Val421Met) rs781507889
NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_001165963.4(SCN1A):c.1265T>C (p.Val422Ala) rs121917989
NM_001165963.4(SCN1A):c.126del (p.Asp43fs) rs1553560831
NM_001165963.4(SCN1A):c.1276T>A (p.Tyr426Asn) rs121917940
NM_001165963.4(SCN1A):c.1301del (p.Leu434fs) rs794726810
NM_001165963.4(SCN1A):c.1343T>C (p.Ile448Thr) rs755962326
NM_001165963.4(SCN1A):c.1345G>T (p.Glu449Ter) rs794726807
NM_001165963.4(SCN1A):c.136G>A (p.Glu46Lys) rs769582667
NM_001165963.4(SCN1A):c.1423_1424delinsCT (p.Ala475Leu)
NM_001165963.4(SCN1A):c.1442_1445del (p.Asp481fs) rs794726829
NM_001165963.4(SCN1A):c.1489del (p.Arg497fs)
NM_001165963.4(SCN1A):c.1516C>T (p.Gln506Ter) rs794726790
NM_001165963.4(SCN1A):c.1604G>A (p.Arg535His) rs184524479
NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter)
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817
NM_001165963.4(SCN1A):c.1660dup (p.Gln554fs) rs794726717
NM_001165963.4(SCN1A):c.1662+1G>C
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.1709G>A (p.Ser570Asn) rs1057518703
NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter) rs794726736
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln) rs544692790
NM_001165963.4(SCN1A):c.1803C>T (p.Asn601=) rs139403702
NM_001165963.4(SCN1A):c.1804G>T (p.Glu602Ter) rs794726834
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) rs121918769
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.187T>C (p.Phe63Leu) rs121917907
NM_001165963.4(SCN1A):c.1970C>T (p.Pro657Leu) rs794726838
NM_001165963.4(SCN1A):c.2044G>A (p.Gly682Arg)
NM_001165963.4(SCN1A):c.2044_6030del
NM_001165963.4(SCN1A):c.2071A>T (p.Lys691Ter) rs794726747
NM_001165963.4(SCN1A):c.2100del (p.Met701fs) rs794726806
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter)
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.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.2348T>C (p.Leu783Pro) rs121917968
NM_001165963.4(SCN1A):c.234G>T (p.Glu78Asp) rs121917933
NM_001165963.4(SCN1A):c.2350_2351del (p.Phe784fs) rs1553543215
NM_001165963.4(SCN1A):c.2353A>G (p.Met785Val) rs767045134
NM_001165963.4(SCN1A):c.235G>C (p.Asp79His) rs121917982
NM_001165963.4(SCN1A):c.2393_2404del (p.Asn798_Val802delinsIle)
NM_001165963.4(SCN1A):c.2415+2T>C rs1574201555
NM_001165963.4(SCN1A):c.2422A>T (p.Thr808Ser) rs121918758
NM_001165963.4(SCN1A):c.242A>G (p.Asp81Gly)
NM_001165963.4(SCN1A):c.2435C>G (p.Thr812Arg) rs121917941
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.251A>G (p.Tyr84Cys) rs121917964
NM_001165963.4(SCN1A):c.2523_2524del (p.Thr841_Leu842insTer) rs794726738
NM_001165963.4(SCN1A):c.2528del (p.Ser843fs)
NM_001165963.4(SCN1A):c.2536G>A (p.Glu846Lys) rs121917942
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.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.2624C>A (p.Thr875Lys) rs121918623
NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met) rs121918623
NM_001165963.4(SCN1A):c.2665G>A (p.Ala889Thr) rs1266877537
NM_001165963.4(SCN1A):c.2678T>A (p.Leu893Ter) rs794726815
NM_001165963.4(SCN1A):c.2680dup (p.Thr894fs)
NM_001165963.4(SCN1A):c.2690T>C (p.Leu897Ser) rs794726761
NM_001165963.4(SCN1A):c.269T>C (p.Phe90Ser) rs121918733
NM_001165963.4(SCN1A):c.2705T>G (p.Phe902Cys) rs121918787
NM_001165963.4(SCN1A):c.2710T>G (p.Phe904Val)
NM_001165963.4(SCN1A):c.2728C>A (p.Gln910Lys) rs794726721
NM_001165963.4(SCN1A):c.2728C>T (p.Gln910Ter) 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.2792G>T (p.Arg931Leu)
NM_001165963.4(SCN1A):c.2802G>C (p.Met934Ile) rs121918774
NM_001165963.4(SCN1A):c.2815C>T (p.His939Tyr) rs121918736
NM_001165963.4(SCN1A):c.2817C>G (p.His939Gln) rs121918795
NM_001165963.4(SCN1A):c.2825T>C (p.Leu942Pro) rs121917943
NM_001165963.4(SCN1A):c.2831T>C (p.Val944Ala) rs121917969
NM_001165963.4(SCN1A):c.2833T>C (p.Phe945Leu) rs121917970
NM_001165963.4(SCN1A):c.2836C>A (p.Arg946Ser) rs121918775
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.2849G>A (p.Gly950Glu) rs121917972
NM_001165963.4(SCN1A):c.2854T>G (p.Trp952Gly) rs121918737
NM_001165963.4(SCN1A):c.2860G>A (p.Glu954Lys) rs121918786
NM_001165963.4(SCN1A):c.2870G>T (p.Trp957Leu) rs121917917
NM_001165963.4(SCN1A):c.2872_2881del (p.Asp958fs) rs794726808
NM_001165963.4(SCN1A):c.2875T>C (p.Cys959Arg) rs121918796
NM_001165963.4(SCN1A):c.2876G>A (p.Cys959Tyr) rs794726716
NM_001165963.4(SCN1A):c.2878A>G (p.Met960Val) rs121918750
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.2935G>A (p.Gly979Arg) rs121918754
NM_001165963.4(SCN1A):c.2936G>A (p.Gly979Glu) rs794726842
NM_001165963.4(SCN1A):c.2947del rs794726715
NM_001165963.4(SCN1A):c.2948T>C (p.Val983Ala) rs121918756
NM_001165963.4(SCN1A):c.2954A>T (p.Asn985Ile) rs121918747
NM_001165963.4(SCN1A):c.2956C>T (p.Leu986Phe) rs121918625
NM_001165963.4(SCN1A):c.2958_2959del (p.Phe987fs) rs794729207
NM_001165963.4(SCN1A):c.2963T>G (p.Leu988Arg)
NM_001165963.4(SCN1A):c.2975T>C (p.Leu992Pro)
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.2994C>A (p.Asp998Glu) rs796052991
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.3032A>T (p.Asn1011Ile) rs121918759
NM_001165963.4(SCN1A):c.3062_3066del (p.Lys1021fs) rs794726756
NM_001165963.4(SCN1A):c.307A>G (p.Ser103Gly) rs121918743
NM_001165963.4(SCN1A):c.308G>T (p.Ser103Ile) rs760361423
NM_001165963.4(SCN1A):c.3098T>C (p.Phe1033Ser) rs796052992
NM_001165963.4(SCN1A):c.3106C>T (p.Gln1036Ter) rs542420576
NM_001165963.4(SCN1A):c.323T>C (p.Leu108Pro) rs794726793
NM_001165963.4(SCN1A):c.3306C>A (p.Tyr1102Ter) rs863225032
NM_001165963.4(SCN1A):c.335C>T (p.Thr112Ile) rs121918745
NM_001165963.4(SCN1A):c.337C>A (p.Pro113Thr) rs794726711
NM_001165963.4(SCN1A):c.338C>G (p.Pro113Arg) rs1553553462
NM_001165963.4(SCN1A):c.3439G>T (p.Glu1147Ter) rs794726733
NM_001165963.4(SCN1A):c.3451T>C (p.Ser1151Pro)
NM_001165963.4(SCN1A):c.3455C>A (p.Ser1152Ter) rs794726728
NM_001165963.4(SCN1A):c.345T>A (p.Asn115Lys)
NM_001165963.4(SCN1A):c.345T>C (p.Asn115=) rs61741123
NM_001165963.4(SCN1A):c.3477del (p.Ile1159fs) rs794726729
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) rs201079458
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.3512C>T (p.Pro1171Leu) rs1559152754
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799
NM_001165963.4(SCN1A):c.354G>C (p.Arg118Ser) rs121917959
NM_001165963.4(SCN1A):c.354G>T (p.Arg118Ser) rs121917959
NM_001165963.4(SCN1A):c.3609del (p.Gln1203fs) rs1574061044
NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter) rs1559149128
NM_001165963.4(SCN1A):c.3612G>A (p.Trp1204Ter)
NM_001165963.4(SCN1A):c.3615G>A (p.Trp1205Ter) rs794726720
NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro) rs121917963
NM_001165963.4(SCN1A):c.3629C>A (p.Thr1210Lys) rs121918738
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) rs794726710
NM_001165963.4(SCN1A):c.3657G>A (p.Trp1219Ter) rs863225033
NM_001165963.4(SCN1A):c.3661G>C (p.Glu1221Gln) rs794726854
NM_001165963.4(SCN1A):c.3690dup (p.Ser1231Ter) rs1057519534
NM_001165963.4(SCN1A):c.3692G>C (p.Ser1231Thr) rs121918800
NM_001165963.4(SCN1A):c.3693T>A (p.Ser1231Arg) rs121918746
NM_001165963.4(SCN1A):c.3697G>C (p.Gly1233Arg) rs121917911
NM_001165963.4(SCN1A):c.36del (p.Asp12fs)
NM_001165963.4(SCN1A):c.3704del (p.Leu1235fs) rs869312670
NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro) rs794726770
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp) rs121917973
NM_001165963.4(SCN1A):c.371T>A (p.Ile124Asn) rs121918761
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496
NM_001165963.4(SCN1A):c.3726_3727insAT (p.Asp1243fs) rs794726706
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.3734G>A (p.Arg1245Gln) rs121917912
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met) rs140731963
NM_001165963.4(SCN1A):c.3757G>T (p.Glu1253Ter) rs794726817
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.3789C>G (p.Phe1263Leu) rs121918752
NM_001165963.4(SCN1A):c.3794T>C (p.Leu1265Pro) rs121918794
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp) rs148442069
NM_001165963.4(SCN1A):c.3802_3812del (p.Leu1268fs) rs794726709
NM_001165963.4(SCN1A):c.380A>T (p.His127Leu) rs794726831
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.3828T>A (p.Tyr1276Ter) rs794726731
NM_001165963.4(SCN1A):c.3844A>G (p.Asn1282Asp)
NM_001165963.4(SCN1A):c.384_1662dup
NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg) rs796053001
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.3899C>G (p.Thr1300Arg) rs146878122
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910
NM_001165963.4(SCN1A):c.3944_3945del (p.Leu1315fs)
NM_001165963.4(SCN1A):c.3953T>C (p.Leu1318Pro)
NM_001165963.4(SCN1A):c.3970_3971dup (p.Leu1324_Arg1325insTer) rs794726723
NM_001165963.4(SCN1A):c.3976G>C (p.Ala1326Pro) rs121918803
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter) rs796053004
NM_001165963.4(SCN1A):c.4002+1G>T
NM_001165963.4(SCN1A):c.4002+2451G>C rs869312684
NM_001165963.4(SCN1A):c.4003G>A (p.Val1335Met) rs121917960
NM_001165963.4(SCN1A):c.4007T>G (p.Val1336Gly)
NM_001165963.4(SCN1A):c.4016C>T (p.Ala1339Val) rs794726789
NM_001165963.4(SCN1A):c.4040T>A (p.Ile1347Asn) rs1553525325
NM_001165963.4(SCN1A):c.4044G>A (p.Met1348Ile) rs794726822
NM_001165963.4(SCN1A):c.4055T>C (p.Leu1352Pro) rs794726821
NM_001165963.4(SCN1A):c.4064T>C (p.Leu1355Pro) rs121918776
NM_001165963.4(SCN1A):c.4073G>C (p.Trp1358Ser) rs121917961
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)
NM_001165963.4(SCN1A):c.4101T>A (p.Asn1367Lys) rs121918760
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.4186T>G (p.Cys1396Gly) rs121917987
NM_001165963.4(SCN1A):c.4188C>A (p.Cys1396Ter) rs794726745
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.4240A>T (p.Asn1414Tyr) rs121917925
NM_001165963.4(SCN1A):c.4244_4245del (p.Asn1414_Phe1415insTer) rs794726705
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.4277T>G (p.Leu1426Arg) rs121917944
NM_001165963.4(SCN1A):c.4297G>A (p.Gly1433Arg) rs121917908
NM_001165963.4(SCN1A):c.4298G>A (p.Gly1433Glu) rs121918741
NM_001165963.4(SCN1A):c.429_430del (p.Phe144fs)
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.4319C>T (p.Ala1440Val) rs1559122124
NM_001165963.4(SCN1A):c.4321G>C (p.Ala1441Pro) rs121917974
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe)
NM_001165963.4(SCN1A):c.4338_6030del (p.Asn1446_Gly2008del)
NM_001165963.4(SCN1A):c.4339-21C>G
NM_001165963.4(SCN1A):c.433A>G (p.Met145Val) rs794726849
NM_001165963.4(SCN1A):c.4348C>A (p.Gln1450Lys) rs121918806
NM_001165963.4(SCN1A):c.4349A>G (p.Gln1450Arg) rs121918790
NM_001165963.4(SCN1A):c.434T>G (p.Met145Arg)
NM_001165963.4(SCN1A):c.4351C>A (p.Pro1451Thr) rs794726696
NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu) rs121917945
NM_001165963.4(SCN1A):c.4381C>A (p.Leu1461Ile) rs121918772
NM_001165963.4(SCN1A):c.4385A>G (p.Tyr1462Cys) rs121917962
NM_001165963.4(SCN1A):c.4388T>C (p.Phe1463Ser) rs121917946
NM_001165963.4(SCN1A):c.4408G>T (p.Gly1470Trp) rs121917924
NM_001165963.4(SCN1A):c.4409G>A (p.Gly1470Glu) rs1573984236
NM_001165963.4(SCN1A):c.4412C>T (p.Ser1471Phe) rs794726809
NM_001165963.4(SCN1A):c.4424T>C (p.Leu1475Ser) rs121917947
NM_001165963.4(SCN1A):c.4428C>G (p.Asn1476Lys)
NM_001165963.4(SCN1A):c.4444A>C (p.Ile1482Leu) rs794729200
NM_001165963.4(SCN1A):c.4525A>C (p.Asn1509His)
NM_001165963.4(SCN1A):c.4541T>C (p.Leu1514Ser) rs121918764
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.4547C>T (p.Ser1516Leu) 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.4556C>T (p.Pro1519Leu) rs372425457
NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter) rs794726752
NM_001165963.4(SCN1A):c.4581+18A>G
NM_001165963.4(SCN1A):c.4601T>A (p.Val1534Asp)
NM_001165963.4(SCN1A):c.4611_4645dup (p.Ile1549delinsThrTer) rs794726757
NM_001165963.4(SCN1A):c.4612G>A (p.Val1538Ile) rs780360360
NM_001165963.4(SCN1A):c.4628T>C (p.Phe1543Ser) rs121917992
NM_001165963.4(SCN1A):c.4633A>G (p.Ile1545Val) rs121917975
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys) rs121918807
NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln) rs796053090
NM_001165963.4(SCN1A):c.474_602del (p.Thr160_Tyr202del) rs1553551314
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.4766T>G (p.Val1589Gly) rs764037830
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys) rs121917993
NM_001165963.4(SCN1A):c.4789_4792del (p.His1597fs)
NM_001165963.4(SCN1A):c.4811G>A (p.Trp1604Ter) rs794726800
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.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.4834G>A (p.Val1612Ile) rs121918808
NM_001165963.4(SCN1A):c.484A>C (p.Thr162Pro) rs121917934
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val) rs373967247
NM_001165963.4(SCN1A):c.485C>T (p.Thr162Ile)
NM_001165963.4(SCN1A):c.4879_4883dup (p.Tyr1628Ter) rs794726701
NM_001165963.4(SCN1A):c.4888G>A (p.Val1630Met) rs121917914
NM_001165963.4(SCN1A):c.4894C>T (p.Pro1632Ser) rs121918755
NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter) rs199727342
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.493T>C (p.Tyr165His) rs1553551493
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.4973C>G (p.Thr1658Arg) rs121917922
NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met) rs121917922
NM_001165963.4(SCN1A):c.4982T>C (p.Phe1661Ser) rs121918797
NM_001165963.4(SCN1A):c.4985C>T (p.Ala1662Val) rs794726839
NM_001165963.4(SCN1A):c.4991T>A (p.Met1664Lys) rs121918765
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.5002C>G (p.Pro1668Ala) rs121917948
NM_001165963.4(SCN1A):c.5003C>G (p.Pro1668Arg) rs794726698
NM_001165963.4(SCN1A):c.5003del (p.Pro1668fs) rs794726758
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.5014A>C (p.Asn1672His) rs794726740
NM_001165963.4(SCN1A):c.5020G>C (p.Gly1674Arg) rs121918792
NM_001165963.4(SCN1A):c.5054C>A (p.Ala1685Asp) rs121918744
NM_001165963.4(SCN1A):c.505T>C (p.Ser169Pro) rs796052957
NM_001165963.4(SCN1A):c.5063G>T (p.Gly1688Val) rs794726851
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser) rs121918778
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)
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.5119T>G (p.Phe1707Val) rs121917977
NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile) rs121918629
NM_001165963.4(SCN1A):c.512T>A (p.Ile171Lys) rs121918766
NM_001165963.4(SCN1A):c.5138G>A (p.Ser1713Asn) rs121918816
NM_001165963.4(SCN1A):c.5141T>G (p.Met1714Arg) rs121917949
NM_001165963.4(SCN1A):c.5146T>C (p.Cys1716Arg) rs121917926
NM_001165963.4(SCN1A):c.5162C>G (p.Thr1721Arg) rs121917978
NM_001165963.4(SCN1A):c.5173G>A (p.Gly1725Ser)
NM_001165963.4(SCN1A):c.5176T>C (p.Trp1726Arg) rs121917979
NM_001165963.4(SCN1A):c.5180A>G (p.Asp1727Gly)
NM_001165963.4(SCN1A):c.5217C>T (p.Pro1739=) rs149315236
NM_001165963.4(SCN1A):c.5222G>A (p.Cys1741Tyr) rs794726763
NM_001165963.4(SCN1A):c.523G>A (p.Ala175Thr) rs121918767
NM_001165963.4(SCN1A):c.5246G>A (p.Gly1749Glu) rs121918798
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.5264A>G (p.Asp1755Gly) rs794726722
NM_001165963.4(SCN1A):c.5266T>G (p.Cys1756Gly) rs121918809
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.5297_5298del (p.Phe1766fs) rs794726832
NM_001165963.4(SCN1A):c.5308A>T (p.Ile1770Phe)
NM_001165963.4(SCN1A):c.530G>A (p.Gly177Glu) rs121918770
NM_001165963.4(SCN1A):c.530G>T (p.Gly177Val) rs121918770
NM_001165963.4(SCN1A):c.5318C>T (p.Ser1773Phe) rs121917951
NM_001165963.4(SCN1A):c.5334del (p.Asn1779fs) rs794726783
NM_001165963.4(SCN1A):c.5339T>C (p.Met1780Thr) rs121917952
NM_001165963.4(SCN1A):c.5342A>G (p.Tyr1781Cys) rs121918779
NM_001165963.4(SCN1A):c.5343del (p.Met1780_Tyr1781insTer)
NM_001165963.4(SCN1A):c.5346C>G (p.Ile1782Met) rs121918763
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr)
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.5351T>A (p.Val1784Asp) rs1057518671
NM_001165963.4(SCN1A):c.5351T>C (p.Val1784Ala) rs1057518671
NM_001165963.4(SCN1A):c.5359G>A (p.Glu1787Lys) rs121917916
NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys) rs121918813
NM_001165963.4(SCN1A):c.539T>A (p.Leu180Ter)
NM_001165963.4(SCN1A):c.5404G>T (p.Glu1802Ter) rs794726780
NM_001165963.4(SCN1A):c.5422T>C (p.Phe1808Leu) rs121918757
NM_001165963.4(SCN1A):c.5434T>G (p.Trp1812Gly) rs121918751
NM_001165963.4(SCN1A):c.5436G>A (p.Trp1812Ter) rs863225037
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.5492T>C (p.Phe1831Ser) rs121918748
NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val) rs780809852
NM_001165963.4(SCN1A):c.5515C>G (p.Leu1839Val) rs794726801
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.5546T>C (p.Leu1849Pro)
NM_001165963.4(SCN1A):c.5555T>C (p.Met1852Thr) rs121918783
NM_001165963.4(SCN1A):c.5643G>C (p.Glu1881Asp) rs121918804
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.5674C>T (p.Arg1892Ter) rs794726739
NM_001165963.4(SCN1A):c.5681T>C (p.Met1894Thr) rs562208324
NM_001165963.4(SCN1A):c.568T>C (p.Trp190Arg) rs121918773
NM_001165963.4(SCN1A):c.571A>T (p.Asn191Tyr) rs121918762
NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile) rs121918793
NM_001165963.4(SCN1A):c.5765T>C (p.Ile1922Thr) rs121917981
NM_001165963.4(SCN1A):c.5768A>C (p.Gln1923Pro)
NM_001165963.4(SCN1A):c.5780G>C (p.Arg1927Thr) rs794726737
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly) rs121917956
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn) rs121917935
NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val) rs915676341
NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly) rs121918802
NM_001165963.4(SCN1A):c.5912A>G (p.Glu1971Gly) rs771936735
NM_001165963.4(SCN1A):c.591del (p.Ile198fs)
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His) rs146733308
NM_001165963.4(SCN1A):c.596C>G (p.Thr199Arg) rs121917983
NM_001165963.4(SCN1A):c.5988A>C (p.Lys1996Asn) rs371243629
NM_001165963.4(SCN1A):c.606C>A (p.Tyr202Ter)
NM_001165963.4(SCN1A):c.650C>A (p.Thr217Lys) rs121917936
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.661C>G (p.Leu221Val) rs886039456
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.682T>C (p.Ser228Pro) rs1057519530
NM_001165963.4(SCN1A):c.689_690insG (p.Ile230fs)
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.755T>A (p.Ile252Asn) rs121918780
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.793G>T (p.Gly265Trp) rs121918749
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.838T>C (p.Trp280Arg) rs121917938
NM_001165963.4(SCN1A):c.890C>T (p.Thr297Ile) rs121918771
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.965G>T (p.Arg322Ile) rs121917928
NM_001165963.4(SCN1A):c.985G>T (p.Gly329Cys) rs781746113
NM_001165963.4(SCN1A):c.986G>C (p.Gly329Ala)
NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val) rs779184118
NM_001165963.4(SCN1A):c.992dup (p.Leu331fs) rs863225038
NM_001330723.2(SNX27):c.1017C>T (p.His339=)
NM_001330723.2(SNX27):c.1024T>G (p.Tyr342Asp)
NM_001330723.2(SNX27):c.1025A>G (p.Tyr342Cys)
NM_001330723.2(SNX27):c.1046C>A (p.Ala349Asp) rs771457853
NM_001330723.2(SNX27):c.1067C>A (p.Thr356Asn)
NM_001330723.2(SNX27):c.106_120del (p.Gly36_Gly40del)
NM_001330723.2(SNX27):c.1092A>G (p.Thr364=)
NM_001330723.2(SNX27):c.1107C>T (p.Leu369=)
NM_001330723.2(SNX27):c.110G>A (p.Gly37Glu)
NM_001330723.2(SNX27):c.1118A>G (p.Asn373Ser) rs149636067
NM_001330723.2(SNX27):c.1122C>T (p.Asp374=) rs1158496817
NM_001330723.2(SNX27):c.1124T>G (p.Leu375Arg)
NM_001330723.2(SNX27):c.1128T>C (p.Ala376=)
NM_001330723.2(SNX27):c.1147C>G (p.Gln383Glu) rs758891209
NM_001330723.2(SNX27):c.1149+10T>C rs368706118
NM_001330723.2(SNX27):c.1150-3T>C
NM_001330723.2(SNX27):c.1150-4A>C
NM_001330723.2(SNX27):c.1155C>T (p.Val385=) rs115166911
NM_001330723.2(SNX27):c.1156G>C (p.Asp386His) rs138859961
NM_001330723.2(SNX27):c.1170A>G (p.Lys390=) rs916854524
NM_001330723.2(SNX27):c.1181A>C (p.Lys394Thr) rs1558073082
NM_001330723.2(SNX27):c.1185A>C (p.Ala395=) rs1571868477
NM_001330723.2(SNX27):c.118G>A (p.Gly40Ser) rs1354158738
NM_001330723.2(SNX27):c.120C>T (p.Gly40=)
NM_001330723.2(SNX27):c.1214T>C (p.Leu405Pro)
NM_001330723.2(SNX27):c.1218C>G (p.Tyr406Ter) rs201966711
NM_001330723.2(SNX27):c.1221A>G (p.Glu407=) rs1553264889
NM_001330723.2(SNX27):c.1235T>A (p.Val412Asp)
NM_001330723.2(SNX27):c.1237A>G (p.Met413Val) rs144336311
NM_001330723.2(SNX27):c.1237A>T (p.Met413Leu) rs144336311
NM_001330723.2(SNX27):c.1240-3T>A
NM_001330723.2(SNX27):c.1240-3T>C
NM_001330723.2(SNX27):c.1240-4_1240-3insCTT
NM_001330723.2(SNX27):c.1240-5_1240-4insCT
NM_001330723.2(SNX27):c.1240-6T>C rs1033947503
NM_001330723.2(SNX27):c.1246A>G (p.Asn416Asp) rs1388451146
NM_001330723.2(SNX27):c.1258A>T (p.Thr420Ser) rs1399483139
NM_001330723.2(SNX27):c.1274A>G (p.Asn425Ser) rs768030688
NM_001330723.2(SNX27):c.1278A>T (p.Glu426Asp)
NM_001330723.2(SNX27):c.1283T>A (p.Ile428Asn)
NM_001330723.2(SNX27):c.1287T>C (p.Phe429=) rs1230597000
NM_001330723.2(SNX27):c.1289C>T (p.Pro430Leu)
NM_001330723.2(SNX27):c.1299C>G (p.Ala433=) rs1571880748
NM_001330723.2(SNX27):c.130G>C (p.Val44Leu)
NM_001330723.2(SNX27):c.1310G>C (p.Arg437Thr) rs1558078260
NM_001330723.2(SNX27):c.1320G>A (p.Gly440=)
NM_001330723.2(SNX27):c.1323C>T (p.His441=) rs758182367
NM_001330723.2(SNX27):c.1324G>A (p.Val442Ile) rs149937418
NM_001330723.2(SNX27):c.1329C>T (p.Ile443=) rs193058770
NM_001330723.2(SNX27):c.1346C>T (p.Thr449Met) rs754928412
NM_001330723.2(SNX27):c.1347G>A (p.Thr449=)
NM_001330723.2(SNX27):c.1348C>T (p.His450Tyr)
NM_001330723.2(SNX27):c.1350C>T (p.His450=)
NM_001330723.2(SNX27):c.1356dup (p.Leu453fs) rs1553266166
NM_001330723.2(SNX27):c.1365C>T (p.Ala455=) rs555284794
NM_001330723.2(SNX27):c.138C>T (p.Ile46=)
NM_001330723.2(SNX27):c.1390-4C>T
NM_001330723.2(SNX27):c.141C>T (p.Val47=)
NM_001330723.2(SNX27):c.1427G>T (p.Arg476Leu) rs200106732
NM_001330723.2(SNX27):c.1438G>C (p.Asp480His)
NM_001330723.2(SNX27):c.1457T>C (p.Phe486Ser)
NM_001330723.2(SNX27):c.1464C>T (p.Phe488=) rs767464354
NM_001330723.2(SNX27):c.1465G>A (p.Glu489Lys) rs1400115897
NM_001330723.2(SNX27):c.1475G>A (p.Arg492Gln)
NM_001330723.2(SNX27):c.147C>T (p.Ser49=) rs1571741449
NM_001330723.2(SNX27):c.1493G>A (p.Arg498Gln) rs1558078709
NM_001330723.2(SNX27):c.1495T>C (p.Trp499Arg)
NM_001330723.2(SNX27):c.1517A>G (p.Tyr506Cys) rs1553266278
NM_001330723.2(SNX27):c.1518+10A>G rs745587168
NM_001330723.2(SNX27):c.1519-8T>C
NM_001330723.2(SNX27):c.1523A>G (p.Asn508Ser)
NM_001330723.2(SNX27):c.1571G>A (p.Arg524Lys)
NM_001330723.2(SNX27):c.1578+118G>A
NM_001330723.2(SNX27):c.1578+119_1578+122del
NM_001330723.2(SNX27):c.15C>G (p.Asp5Glu)
NM_001330723.2(SNX27):c.15C>T (p.Asp5=) rs1375319601
NM_001330723.2(SNX27):c.160G>A (p.Gly54Ser)
NM_001330723.2(SNX27):c.17G>A (p.Gly6Glu)
NM_001330723.2(SNX27):c.17G>T (p.Gly6Val)
NM_001330723.2(SNX27):c.189G>A (p.Glu63=)
NM_001330723.2(SNX27):c.18G>A (p.Gly6=) rs551180149
NM_001330723.2(SNX27):c.199C>T (p.Leu67=)
NM_001330723.2(SNX27):c.19G>A (p.Glu7Lys)
NM_001330723.2(SNX27):c.211A>G (p.Asn71Asp)
NM_001330723.2(SNX27):c.213C>G (p.Asn71Lys)
NM_001330723.2(SNX27):c.231G>A (p.Pro77=)
NM_001330723.2(SNX27):c.234G>A (p.Leu78=) rs763585979
NM_001330723.2(SNX27):c.238C>G (p.His80Asp) rs1571741601
NM_001330723.2(SNX27):c.240T>C (p.His80=)
NM_001330723.2(SNX27):c.249C>T (p.Ala83=) rs779378055
NM_001330723.2(SNX27):c.259G>T (p.Gly87Trp) rs750944911
NM_001330723.2(SNX27):c.260G>C (p.Gly87Ala)
NM_001330723.2(SNX27):c.261G>T (p.Gly87=)
NM_001330723.2(SNX27):c.263G>C (p.Gly88Ala)
NM_001330723.2(SNX27):c.264G>T (p.Gly88=)
NM_001330723.2(SNX27):c.265dup (p.Ala89fs) rs781657502
NM_001330723.2(SNX27):c.275G>T (p.Arg92Leu)
NM_001330723.2(SNX27):c.279C>A (p.Ala93=)
NM_001330723.2(SNX27):c.292G>A (p.Gly98Arg)
NM_001330723.2(SNX27):c.306G>C (p.Leu102=)
NM_001330723.2(SNX27):c.311+9C>T
NM_001330723.2(SNX27):c.317A>C (p.His106Pro)
NM_001330723.2(SNX27):c.318C>T (p.His106=) rs574875506
NM_001330723.2(SNX27):c.323A>G (p.Asn108Ser)
NM_001330723.2(SNX27):c.336G>C (p.Ala112=)
NM_001330723.2(SNX27):c.342C>T (p.His114=) rs777998061
NM_001330723.2(SNX27):c.345G>A (p.Lys115=)
NM_001330723.2(SNX27):c.364C>A (p.Arg122=)
NM_001330723.2(SNX27):c.388T>A (p.Leu130Met) rs767929616
NM_001330723.2(SNX27):c.396G>C (p.Val132=)
NM_001330723.2(SNX27):c.399A>G (p.Leu133=)
NM_001330723.2(SNX27):c.40C>A (p.Pro14Thr)
NM_001330723.2(SNX27):c.40C>T (p.Pro14Ser)
NM_001330723.2(SNX27):c.41C>T (p.Pro14Leu) rs965328686
NM_001330723.2(SNX27):c.422A>T (p.Asp141Val) rs1300183081
NM_001330723.2(SNX27):c.423T>C (p.Asp141=)
NM_001330723.2(SNX27):c.447G>A (p.Ser149=)
NM_001330723.2(SNX27):c.456A>G (p.Gln152=) rs774725804
NM_001330723.2(SNX27):c.493A>C (p.Ile165Leu)
NM_001330723.2(SNX27):c.49A>C (p.Asn17His)
NM_001330723.2(SNX27):c.527A>G (p.Asn176Ser)
NM_001330723.2(SNX27):c.528T>C (p.Asn176=)
NM_001330723.2(SNX27):c.53G>C (p.Gly18Ala)
NM_001330723.2(SNX27):c.543+6T>C rs1571793465
NM_001330723.2(SNX27):c.543+6_543+7insA rs778540185
NM_001330723.2(SNX27):c.546A>G (p.Val182=)
NM_001330723.2(SNX27):c.575T>A (p.Leu192Gln) rs1208840156
NM_001330723.2(SNX27):c.595G>C (p.Glu199Gln) rs1176950317
NM_001330723.2(SNX27):c.603T>C (p.Ala201=)
NM_001330723.2(SNX27):c.60CGG[5] (p.Gly25dup) rs567208173
NM_001330723.2(SNX27):c.60CGG[6] (p.Gly24_Gly25dup) rs567208173
NM_001330723.2(SNX27):c.621G>A (p.Leu207=) rs754801297
NM_001330723.2(SNX27):c.629_630del (p.Glu210fs)
NM_001330723.2(SNX27):c.632T>A (p.Phe211Tyr)
NM_001330723.2(SNX27):c.656T>C (p.Leu219Pro)
NM_001330723.2(SNX27):c.660A>G (p.Pro220=)
NM_001330723.2(SNX27):c.676T>A (p.Ser226Thr) rs748735835
NM_001330723.2(SNX27):c.69C>T (p.Gly23=) rs752312603
NM_001330723.2(SNX27):c.6G>T (p.Ala2=)
NM_001330723.2(SNX27):c.707G>A (p.Arg236His)
NM_001330723.2(SNX27):c.70G>T (p.Gly24Trp)
NM_001330723.2(SNX27):c.72G>A (p.Gly24=) rs1293704681
NM_001330723.2(SNX27):c.731A>G (p.Glu244Gly)
NM_001330723.2(SNX27):c.737-6C>T
NM_001330723.2(SNX27):c.73G>T (p.Gly25Trp) rs1558028277
NM_001330723.2(SNX27):c.752T>G (p.Val251Gly)
NM_001330723.2(SNX27):c.755T>C (p.Ile252Thr)
NM_001330723.2(SNX27):c.75G>A (p.Gly25=)
NM_001330723.2(SNX27):c.772A>G (p.Met258Val) rs146222009
NM_001330723.2(SNX27):c.786A>G (p.Leu262=) rs745510590
NM_001330723.2(SNX27):c.795C>A (p.Ser265=) rs772609394
NM_001330723.2(SNX27):c.796G>A (p.Asp266Asn) rs779687444
NM_001330723.2(SNX27):c.802-4C>T
NM_001330723.2(SNX27):c.812G>A (p.Gly271Asp)
NM_001330723.2(SNX27):c.816G>A (p.Val272=) rs552371418
NM_001330723.2(SNX27):c.819C>T (p.Ser273=)
NM_001330723.2(SNX27):c.820G>A (p.Asp274Asn)
NM_001330723.2(SNX27):c.822C>T (p.Asp274=) rs771189015
NM_001330723.2(SNX27):c.823G>A (p.Val275Ile)
NM_001330723.2(SNX27):c.828G>C (p.Glu276Asp)
NM_001330723.2(SNX27):c.848A>G (p.Asp283Gly) rs776237861
NM_001330723.2(SNX27):c.857C>A (p.Thr286Lys)
NM_001330723.2(SNX27):c.857C>T (p.Thr286Met) rs540042464
NM_001330723.2(SNX27):c.862A>G (p.Thr288Ala) rs1198073102
NM_001330723.2(SNX27):c.873del (p.Lys293fs)
NM_001330723.2(SNX27):c.883A>G (p.Ser295Gly) rs754578785
NM_001330723.2(SNX27):c.908C>T (p.Ala303Val) rs751034029
NM_001330723.2(SNX27):c.912C>T (p.Ile304=)
NM_001330723.2(SNX27):c.913G>A (p.Ala305Thr) rs778236794
NM_001330723.2(SNX27):c.913G>T (p.Ala305Ser)
NM_001330723.2(SNX27):c.914C>T (p.Ala305Val)
NM_001330723.2(SNX27):c.921G>C (p.Lys307Asn)
NM_001330723.2(SNX27):c.92C>T (p.Ala31Val)
NM_001330723.2(SNX27):c.938C>T (p.Thr313Met) rs140922236
NM_001330723.2(SNX27):c.942A>G (p.Thr314=) rs1553261783
NM_001330723.2(SNX27):c.948T>C (p.Asn316=)
NM_001330723.2(SNX27):c.967G>A (p.Val323Met) rs61762678
NM_001330723.2(SNX27):c.980C>T (p.Ser327Phe)
NM_001330723.2(SNX27):c.984T>C (p.Phe328=) rs150091333
NM_001330723.2(SNX27):c.99C>T (p.Asn33=)
NM_001365536.1(SCN9A):c.*1605_*1606del rs200091138
NM_001365536.1(SCN9A):c.*165_*167dup rs886055049
NM_001365536.1(SCN9A):c.*1960_*1962dup rs202073550
NM_001365536.1(SCN9A):c.*2616_*2626del rs145255931
NM_001365536.1(SCN9A):c.*2744del rs763459885
NM_001365536.1(SCN9A):c.*491del rs886055047
NM_001365536.1(SCN9A):c.*798dup rs564394161
NM_001365536.1(SCN9A):c.1079A>G (p.Gln360Arg)
NM_001365536.1(SCN9A):c.1114C>T (p.Arg372Cys)
NM_001365536.1(SCN9A):c.1238T>C (p.Ile413Thr) rs200689195
NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys) rs200415928
NM_001365536.1(SCN9A):c.1280T>C (p.Leu427Ser) rs192406412
NM_001365536.1(SCN9A):c.1604C>T (p.Ser535Leu) rs201354321
NM_001365536.1(SCN9A):c.184A>G (p.Ile62Val) rs121908920
NM_001365536.1(SCN9A):c.1975-12dup rs35888674
NM_001365536.1(SCN9A):c.1975-3del rs35888674
NM_001365536.1(SCN9A):c.2006G>A (p.Arg669His) rs200374987
NM_001365536.1(SCN9A):c.2351C>G (p.Thr784Ser) rs200624920
NM_001365536.1(SCN9A):c.2875-5del rs774840081
NM_001365536.1(SCN9A):c.3464T>A (p.Phe1155Tyr) rs750839038
NM_001365536.1(SCN9A):c.3497G>A (p.Cys1166Tyr) rs370455223
NM_001365536.1(SCN9A):c.3538A>G (p.Asn1180Asp) rs750269576
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327
NM_001365536.1(SCN9A):c.4368C>G (p.Ile1456Met) rs1362318488
NM_001365536.1(SCN9A):c.4434GAA[1] (p.Lys1480del) rs886055050
NM_001365536.1(SCN9A):c.4482A>G (p.Gln1494=) rs1558945594
NM_001365536.1(SCN9A):c.4503+8_4503+9insT rs767624579
NM_001365536.1(SCN9A):c.4820C>T (p.Thr1607Ile) rs200470541
NM_001365536.1(SCN9A):c.553C>T (p.Arg185Cys) rs202083986
NM_001365536.1(SCN9A):c.5820C>G (p.Asn1940Lys) rs371454107
NM_001365536.1(SCN9A):c.5948G>T (p.Ser1983Ile) rs770802841
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) rs71428908
NM_006920.4(SCN1A):c.384_473del (p.Leu129_Glu158del)
NM_006920.6(SCN1A):c.1028+1G>A rs863225030
NM_006920.6(SCN1A):c.1028+1G>T rs863225030
NM_006920.6(SCN1A):c.1077T>A (p.Asn359Lys) rs1574240716
NM_006920.6(SCN1A):c.1170+1G>T rs794726765
NM_006920.6(SCN1A):c.1204T>A (p.Phe402Ile) rs796053094
NM_006920.6(SCN1A):c.126dup (p.Asp43fs) rs1553560831
NM_006920.6(SCN1A):c.1543A>T (p.Lys515Ter) rs1553545567
NM_006920.6(SCN1A):c.1662+1G>T rs794726749
NM_006920.6(SCN1A):c.1662+3A>G rs794726773
NM_006920.6(SCN1A):c.1810dup (p.Arg604fs) rs1574217232
NM_006920.6(SCN1A):c.1898C>T (p.Ala633Val) rs1574215846
NM_006920.6(SCN1A):c.2010+10_2010+13del rs1553544470
NM_006920.6(SCN1A):c.2010+2T>C rs1574214843
NM_006920.6(SCN1A):c.207del (p.Pro70fs) rs1574371902
NM_006920.6(SCN1A):c.2098C>T (p.Gln700Ter) rs1574209023
NM_006920.6(SCN1A):c.2114_2117del (p.Ile705fs) rs1574208760
NM_006920.6(SCN1A):c.2143+3T>A rs794726795
NM_006920.6(SCN1A):c.2144-2A>T rs1436792531
NM_006920.6(SCN1A):c.2382+1G>A rs886041292
NM_006920.6(SCN1A):c.2556+3A>T rs794726775
NM_006920.6(SCN1A):c.262_264+1del rs1574371141
NM_006920.6(SCN1A):c.264+5G>A rs794726762
NM_006920.6(SCN1A):c.264+5G>C rs794726762
NM_006920.6(SCN1A):c.265-2143G>A rs1574312497
NM_006920.6(SCN1A):c.2653G>A (p.Val885Ile) rs745378416
NM_006920.6(SCN1A):c.2658G>T (p.Leu886Phe) rs1574183148
NM_006920.6(SCN1A):c.2913+1G>T rs794726772
NM_006920.6(SCN1A):c.2913+1_2913+2del rs794726714
NM_006920.6(SCN1A):c.2914-41C>T rs7601520
NM_006920.6(SCN1A):c.3278C>G (p.Ser1093Ter) rs1574168611
NM_006920.6(SCN1A):c.3396+1G>T rs1574166948
NM_006920.6(SCN1A):c.3498_3501dup (p.Ala1168fs) rs1574069132
NM_006920.6(SCN1A):c.3517+1G>A rs794726836
NM_006920.6(SCN1A):c.3672+1G>A rs794726744
NM_006920.6(SCN1A):c.3672+2T>A rs794726735
NM_006920.6(SCN1A):c.3672+5G>A rs1060502189
NM_006920.6(SCN1A):c.3724_3730dup (p.Ala1244fs) rs1574052179
NM_006920.6(SCN1A):c.383+1A>G rs794726803
NM_006920.6(SCN1A):c.384-12A>C rs1574291210
NM_006920.6(SCN1A):c.384-1C>G rs794726764
NM_006920.6(SCN1A):c.3846+1G>T rs794726700
NM_006920.6(SCN1A):c.3847-2A>G rs794726816
NM_006920.6(SCN1A):c.3970-14C>T rs1241008825
NM_006920.6(SCN1A):c.3970-1G>A rs1574007140
NM_006920.6(SCN1A):c.404T>C (p.Met135Thr) rs1574290850
NM_006920.6(SCN1A):c.4100A>T (p.Asn1367Ile) rs1131691775
NM_006920.6(SCN1A):c.4113del (p.Asp1372fs) rs1574005699
NM_006920.6(SCN1A):c.4294G>A (p.Asp1432Asn) rs1573991676
NM_006920.6(SCN1A):c.4305+4A>C rs794726734
NM_006920.6(SCN1A):c.4305+616G>A rs1366966423
NM_006920.6(SCN1A):c.4395C>A (p.Asn1465Lys) rs1573984110
NM_006920.6(SCN1A):c.4443+1A>G rs796053014
NM_006920.6(SCN1A):c.4444-2A>G rs863225036
NM_006920.6(SCN1A):c.4506dup (p.Leu1503fs) rs1573973548
NM_006920.6(SCN1A):c.4671T>A (p.Tyr1557Ter) rs1573963975
NM_006920.6(SCN1A):c.473+1G>C rs794726840
NM_006920.6(SCN1A):c.4829T>C (p.Leu1610Pro) rs1573953706
NM_006920.6(SCN1A):c.4882C>G (p.Arg1628Gly) rs1573953030
NM_006920.6(SCN1A):c.5184del (p.Asp1729fs) rs1573949198
NM_006920.6(SCN1A):c.5228G>A (p.Gly1743Glu) rs796053036
NM_006920.6(SCN1A):c.602+1G>A
NM_006920.6(SCN1A):c.602+1G>T rs794726827
NM_006920.6(SCN1A):c.602+3A>C rs794726833
NM_006920.6(SCN1A):c.603-2A>G rs1057519531
NM_006920.6(SCN1A):c.635T>C (p.Val212Ala) rs551068385
NM_006920.6(SCN1A):c.683C>T (p.Ser228Leu) rs1574271644
NM_006920.6(SCN1A):c.684del (p.Val229fs) rs1574271602
NM_006920.6(SCN1A):c.694+5G>C rs727504142
NM_006920.6(SCN1A):c.830G>A (p.Cys277Tyr) rs1574264920
NM_006920.6(SCN1A):c.942G>T (p.Trp314Cys) rs1553549471
NM_006920.6(SCN1A):c.964+14T>G rs794726837
NM_006920.6(SCN1A):c.965-1G>A rs794726824
NM_198903.2(GABRG2):c.-4del rs771282908
NM_198903.2(GABRG2):c.-4dup rs771282908
SCN1A, 6.5-KB DEL
SCN1A, EX21-26DEL

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