1 |
SCN1A, LOC102724058 |
NM_001165963.4(SCN1A):c.4282G>T (p.Val1428Phe) |
SNV |
Pathogenic
|
238603 |
rs878854263 |
GRCh37: 2:166858984-166858984 GRCh38: 2:166002474-166002474 |
2 |
SCN1A, LOC102724058 |
NM_001165963.4(SCN1A):c.3705+5G>A |
SNV |
Pathogenic
|
408931 |
rs1060502189 |
GRCh37: 2:166870249-166870249 GRCh38: 2:166013739-166013739 |
3 |
KCNQ2 |
NM_172107.4(KCNQ2):c.1388_1389del (p.Val463fs) |
MICROSAT |
Pathogenic
|
242008 |
rs878855236 |
GRCh37: 20:62046392-62046393 GRCh38: 20:63415039-63415040 |
4 |
CACNA2D2 |
NM_006030.4(CACNA2D2):c.485_486del (p.Tyr161_Tyr162insTer) |
DEL |
Pathogenic
|
411003 |
rs1060503108 |
GRCh37: 3:50425023-50425024 GRCh38: 3:50387592-50387593 |
5 |
SCN1A |
NM_001165963.4(SCN1A):c.312del (p.Thr105fs) |
DEL |
Pathogenic
|
408929 |
rs1060502187 |
GRCh37: 2:166915151-166915151 GRCh38: 2:166058641-166058641 |
6 |
SCN1A, LOC102724058 |
NM_001165963.4(SCN1A):c.3822T>G (p.Tyr1274Ter) |
SNV |
Pathogenic
|
408930 |
rs1060502188 |
GRCh37: 2:166868676-166868676 GRCh38: 2:166012166-166012166 |
7 |
SCN1A |
NM_001165963.4(SCN1A):c.938_941del (p.Asp313fs) |
DEL |
Pathogenic
|
461285 |
rs1553549483 |
GRCh37: 2:166908252-166908255 GRCh38: 2:166051742-166051745 |
8 |
SCN1A |
NM_001165963.4(SCN1A):c.454dup (p.Asp152fs) |
DUP |
Pathogenic
|
461273 |
rs1553552319 |
GRCh37: 2:166912939-166912940 GRCh38: 2:166056429-166056430 |
9 |
SCN1A, LOC102724058 |
NM_001165963.4(SCN1A):c.3082del (p.Arg1028fs) |
DEL |
Pathogenic
|
461260 |
rs1553540389 |
GRCh37: 2:166892905-166892905 GRCh38: 2:166036395-166036395 |
10 |
SCN1A, LOC102724058 |
NM_001165963.4(SCN1A):c.4061G>T (p.Cys1354Phe) |
SNV |
Pathogenic
|
408922 |
rs1057521537 |
GRCh37: 2:166859205-166859205 GRCh38: 2:166002695-166002695 |
11 |
SCN1A |
NM_001165963.4(SCN1A):c.2350_2351del (p.Phe784fs) |
DEL |
Pathogenic
|
461250 |
rs1553543215 |
GRCh37: 2:166897805-166897806 GRCh38: 2:166041295-166041296 |
12 |
SCN1A, LOC102724058 |
NM_001165963.4(SCN1A):c.3431_3432del (p.Lys1144fs) |
DEL |
Pathogenic
|
461263 |
rs1553534296 |
GRCh37: 2:166872235-166872236 GRCh38: 2:166015725-166015726 |
13 |
overlap with 6 genes |
NC_000002.12:g.(?_165874735)_(166311776_?)del |
DEL |
Pathogenic
|
471073 |
|
GRCh37: 2:166731245-167168286 GRCh38: 2:165874735-166311776 |
14 |
SCN1A |
NM_001165963.4(SCN1A):c.2522C>G (p.Thr841Arg) |
SNV |
Pathogenic
|
461252 |
rs750901301 |
GRCh37: 2:166896000-166896000 GRCh38: 2:166039490-166039490 |
15 |
SCN1A |
NM_001165963.4(SCN1A):c.1511_1515del (p.Arg504fs) |
MICROSAT |
Pathogenic
|
461242 |
rs1553545660 |
GRCh37: 2:166901700-166901704 GRCh38: 2:166045190-166045194 |
16 |
SCN1A |
NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter) |
SNV |
Pathogenic
|
189892 |
rs794726736 |
GRCh37: 2:166900484-166900484 GRCh38: 2:166043974-166043974 |
17 |
SCN1A |
NM_001165963.4(SCN1A):c.1931_1939delinsA (p.Thr644fs) |
INDEL |
Pathogenic
|
461246 |
rs1553544579 |
GRCh37: 2:166900283-166900291 GRCh38: 2:166043773-166043781 |
18 |
SCN1A |
NM_001165963.4(SCN1A):c.2565_2568dup (p.Val857fs) |
DUP |
Pathogenic
|
461253 |
rs1553542199 |
GRCh37: 2:166895953-166895954 GRCh38: 2:166039443-166039444 |
19 |
SCN1A |
NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter) |
SNV |
Pathogenic
|
93635 |
rs398123585 |
GRCh37: 2:166900385-166900385 GRCh38: 2:166043875-166043875 |
20 |
SCN1A, LOC102724058 |
NM_001165963.4(SCN1A):c.4109C>T (p.Ala1370Val) |
SNV |
Pathogenic
|
461269 |
rs1553525210 |
GRCh37: 2:166859157-166859157 GRCh38: 2:166002647-166002647 |
21 |
SCN1A, LOC102724058 |
NM_001165963.4(SCN1A):c.4462del (p.Gln1488fs) |
DEL |
Pathogenic
|
461272 |
rs1553522321 |
GRCh37: 2:166854562-166854562 GRCh38: 2:165998052-165998052 |
22 |
KCNQ2 |
NC_000020.11:g.(?_63406624)_(63439728_?)del |
DEL |
Pathogenic
|
461211 |
|
GRCh37: GRCh38: 20:63406624-63439728 |
23 |
CDKL5 |
NM_001323289.2(CDKL5):c.751delinsTC (p.Ala251fs) |
INDEL |
Pathogenic
|
523629 |
rs1555951141 |
GRCh37: X:18613474-18613474 GRCh38: X:18595354-18595354 |
24 |
SCN1A |
NM_001165963.4(SCN1A):c.1958T>A (p.Leu653Ter) |
SNV |
Pathogenic
|
530404 |
rs1553544559 |
GRCh37: 2:166900264-166900264 GRCh38: 2:166043754-166043754 |
25 |
KCNQ2 |
NM_172107.4(KCNQ2):c.439del (p.Ala147fs) |
DEL |
Pathogenic
|
530406 |
rs1555873981 |
GRCh37: 20:62076666-62076666 GRCh38: 20:63445313-63445313 |
26 |
KCNQ2 |
NM_172107.4(KCNQ2):c.687del (p.Ser229fs) |
DEL |
Pathogenic
|
530407 |
rs1555873656 |
GRCh37: 20:62076015-62076015 GRCh38: 20:63444662-63444662 |
27 |
overlap with 12 genes |
NC_000002.12:g.(?_165090130)_(166228992_?)del |
DEL |
Pathogenic
|
530654 |
|
GRCh37: 2:165946640-167085502 GRCh38: 2:165090130-166228992 |
28 |
KCNQ2 |
NC_000020.11:g.(?_63431320)_(63433923_?)del |
DEL |
Pathogenic
|
530656 |
|
GRCh37: 20:62062673-62065276 GRCh38: 20:63431320-63433923 |
29 |
SCN1A |
NM_001165963.4(SCN1A):c.1518_1519del (p.Lys507fs) |
DEL |
Pathogenic
|
569861 |
rs1559220874 |
GRCh37: 2:166901696-166901697 GRCh38: 2:166045186-166045187 |
30 |
CACNA2D2 |
NM_006030.4(CACNA2D2):c.1956_1960del (p.Asn652fs) |
DEL |
Pathogenic
|
570589 |
rs1559884460 |
GRCh37: 3:50412192-50412196 GRCh38: 3:50374761-50374765 |
31 |
KCNQ2 |
NM_172107.4(KCNQ2):c.1057C>T (p.Arg353Cys) |
SNV |
Pathogenic
|
205898 |
rs118192218 |
GRCh37: 20:62065223-62065223 GRCh38: 20:63433870-63433870 |
32 |
SCN1A |
NM_001165963.4(SCN1A):c.251A>G (p.Tyr84Cys) |
SNV |
Pathogenic
|
68520 |
rs121917964 |
GRCh37: 2:166929881-166929881 GRCh38: 2:166073371-166073371 |
33 |
SCN1A |
NM_001165963.4(SCN1A):c.1834C>T (p.Arg612Ter) |
SNV |
Pathogenic
|
189941 |
rs794726778 |
GRCh37: 2:166900388-166900388 GRCh38: 2:166043878-166043878 |
34 |
SCN1A |
NM_001165963.4(SCN1A):c.1850_1851dup (p.Arg618fs) |
MICROSAT |
Pathogenic
|
577287 |
rs1559216338 |
GRCh37: 2:166900370-166900371 GRCh38: 2:166043860-166043861 |
35 |
GNAO1 |
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg) |
SNV |
Pathogenic
|
287466 |
rs886041715 |
GRCh37: 16:56226265-56226265 GRCh38: 16:56192353-56192353 |
36 |
SCN1A |
NM_001165963.4(SCN1A):c.655_964+402del |
DEL |
Pathogenic
|
579103 |
|
GRCh37: 2:166907827-166909401 GRCh38: 2:166051317-166052891 |
37 |
KCNQ2 |
NM_172107.4(KCNQ2):c.780_781dup (p.Phe261fs) |
DUP |
Pathogenic
|
580204 |
rs1568932480 |
GRCh37: 20:62073793-62073794 GRCh38: 20:63442440-63442441 |
38 |
SCN1A, LOC102724058 |
NM_001165963.4(SCN1A):c.3880-1G>T |
SNV |
Pathogenic
|
580764 |
rs1559140855 |
GRCh37: 2:166866352-166866352 GRCh38: 2:166009842-166009842 |
39 |
SCN1A, LOC102724058 |
NM_001165963.4(SCN1A):c.3880-2A>G |
SNV |
Pathogenic
|
189985 |
rs794726816 |
GRCh37: 2:166866353-166866353 GRCh38: 2:166009843-166009843 |
40 |
SCN1A, LOC102724058 |
NM_001165963.4(SCN1A):c.4541T>G (p.Leu1514Ter) |
SNV |
Pathogenic
|
582048 |
rs121918764 |
GRCh37: 2:166852563-166852563 GRCh38: 2:165996053-165996053 |
41 |
SCN1A |
NM_001165963.4(SCN1A):c.1306G>T (p.Glu436Ter) |
SNV |
Pathogenic
|
582155 |
rs1553546763 |
GRCh37: 2:166903351-166903351 GRCh38: 2:166046841-166046841 |
42 |
SCN1A, LOC102724058 |
NM_001165963.4(SCN1A):c.3997del (p.Gly1332_Met1333insTer) |
DEL |
Pathogenic
|
530413 |
rs1553529426 |
GRCh37: 2:166866234-166866234 GRCh38: 2:166009724-166009724 |
43 |
SCN1A, LOC102724058 |
NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys) |
SNV |
Pathogenic
|
68660 |
rs121918813 |
GRCh37: 2:166848402-166848402 GRCh38: 2:165991892-165991892 |
44 |
SCN1A |
NM_001165963.4(SCN1A):c.295_301del (p.Ile99fs) |
DEL |
Pathogenic
|
641010 |
rs1574302195 |
GRCh37: 2:166915162-166915168 GRCh38: 2:166058652-166058658 |
45 |
SCN1A |
NM_001165963.4(SCN1A):c.2956C>T (p.Leu986Phe) |
SNV |
Pathogenic
|
12890 |
rs121918625 |
GRCh37: 2:166893031-166893031 GRCh38: 2:166036521-166036521 |
46 |
KCNQ2 and overlap with 1 gene(s) |
NC_000020.11:g.(?_63406624)_(63472483_?)del |
DEL |
Pathogenic
|
641559 |
|
GRCh37: 20:62037977-62103836 GRCh38: 20:63406624-63472483 |
47 |
overlap with 4 genes |
NC_000020.11:g.(?_63472148)_(63528152_?)del |
DEL |
Pathogenic
|
642634 |
|
GRCh37: 20:62103501-62159505 GRCh38: 20:63472148-63528152 |
48 |
SCN1A, LOC102724058 |
NM_001165963.4(SCN1A):c.3229_3262dup (p.Thr1088fs) |
DUP |
Pathogenic
|
642669 |
rs1574169179 |
GRCh37: 2:166892724-166892725 GRCh38: 2:166036214-166036215 |
49 |
SCN1A, LOC102724058 |
NM_001165963.4(SCN1A):c.4177_4180delinsTG (p.His1393fs) |
INDEL |
Pathogenic
|
643756 |
rs1574005235 |
GRCh37: 2:166859086-166859089 GRCh38: 2:166002576-166002579 |
50 |
SCN1A |
NM_001165963.4(SCN1A):c.811_815dup (p.Asn272fs) |
DUP |
Pathogenic
|
643783 |
rs1574265144 |
GRCh37: 2:166908377-166908378 GRCh38: 2:166051867-166051868 |