2-166847761-C-T
|
p.Gly2008Gly |
synonymous |
SCN1A |
3 |
80604 |
3.7219E-5 |
40302 |
0 |
3.08439E-5 |
2-166847766-T-C
|
p.Lys2007Glu |
missense |
SCN1A |
1 |
80626 |
1.24029E-5 |
40313 |
0 |
4.01146E-6 |
2-166847790-G-A
|
p.Gln1999* |
stop_gained |
SCN1A |
1 |
80730 |
1.2387E-5 |
40365 |
0 |
7.98416E-6 |
2-166847797-T-G
|
p.Lys1996Asn |
missense |
SCN1A |
4 |
80770 |
4.95233E-5 |
40385 |
0 |
1.19655E-5 |
2-166847802-C-G
|
p.Glu1995Gln |
missense |
SCN1A |
1 |
80792 |
1.23775E-5 |
40396 |
0 |
3.98877E-6 |
2-166847807-A-G
|
p.Ile1993Thr |
missense |
SCN1A |
1 |
80822 |
1.23729E-5 |
40411 |
0 |
3.18837E-5 |
2-166847822-C-T
|
p.Arg1988Gln |
missense |
SCN1A |
1 |
80848 |
1.23689E-5 |
40424 |
0 |
5.03525E-4 |
2-166847823-G-A
|
p.Arg1988Trp |
missense |
SCN1A |
1 |
80850 |
1.23686E-5 |
40425 |
0 |
8.27801E-6 |
2-166847834-G-T
|
p.Pro1984His |
missense |
SCN1A |
13 |
80858 |
1.60776E-4 |
40429 |
0 |
6.69216E-4 |
2-166847843-G-T
|
p.Ala1981Asp |
missense |
SCN1A |
1 |
80846 |
1.23692E-5 |
40423 |
0 |
6.3743E-5 |
2-166847874-C-T
|
p.Glu1971Lys |
missense |
SCN1A |
1 |
80786 |
1.23784E-5 |
40393 |
0 |
NA |
2-166847897-C-G
|
p.Arg1963Thr |
missense |
SCN1A |
1 |
80656 |
1.23983E-5 |
40328 |
0 |
3.98851E-6 |
2-166847908-C-A
|
p.Met1959Ile |
missense |
SCN1A |
3 |
80602 |
3.72199E-5 |
40301 |
0 |
3.30682E-5 |
2-166847915-T-C
|
p.Glu1957Gly |
missense |
SCN1A |
22 |
80558 |
2.73095E-4 |
40279 |
0 |
1.39585E-4 |
2-166847921-A-G
|
p.Ile1955Thr |
missense |
SCN1A |
281 |
80512 |
0.00349016 |
40256 |
4 |
0.00812775 |
2-166847922-T-C
|
p.Ile1955Val |
missense |
SCN1A |
1 |
80510 |
1.24208E-5 |
40255 |
0 |
8.2661E-6 |
2-166847927-A-G
|
p.Leu1953Pro |
missense |
SCN1A |
2 |
80476 |
2.48521E-5 |
40238 |
0 |
3.9887E-6 |
2-166847934-C-A
|
p.Ala1951Ser |
missense |
SCN1A |
2 |
80386 |
2.488E-5 |
40193 |
0 |
3.18735E-5 |
2-166847937-C-T
|
p.Gly1950Arg |
missense |
SCN1A |
1 |
80380 |
1.24409E-5 |
40190 |
0 |
NA |
2-166847962-C-T
|
p.Thr1941Thr |
synonymous |
SCN1A |
2 |
80062 |
2.49806E-5 |
40031 |
0 |
1.19743E-5 |
2-166847963-G-A
|
p.Thr1941Met |
missense |
SCN1A |
5 |
80046 |
6.24641E-5 |
40023 |
0 |
2.47754E-5 |
2-166847972-G-A
|
p.Ala1938Val |
missense |
SCN1A |
2 |
79978 |
2.50069E-5 |
39989 |
0 |
7.98059E-6 |
2-166847976-G-C
|
p.Gln1937Glu |
missense |
SCN1A |
2 |
79974 |
2.50081E-5 |
39987 |
0 |
NA |
2-166847979-T-C
|
p.Lys1936Glu |
missense |
SCN1A |
2 |
79976 |
2.50075E-5 |
39988 |
0 |
NA |
2-166847984-G-A
|
p.Thr1934Ile |
missense |
SCN1A |
1 |
79932 |
1.25106E-5 |
39966 |
0 |
3.18634E-5 |
2-166848003-G-C
|
p.Arg1928Gly |
missense |
SCN1A |
121 |
79932 |
0.00151379 |
39966 |
0 |
0.00142728 |
2-166848003-G-A
|
p.Arg1928Cys |
missense |
SCN1A |
10 |
79932 |
1.25106E-4 |
39966 |
0 |
2.47504E-5 |
2-166848006-T-C
|
p.Arg1927Gly |
missense |
SCN1A |
1 |
79970 |
1.25047E-5 |
39985 |
0 |
NA |
2-166848008-T-C
|
p.Tyr1926Cys |
missense |
SCN1A |
2 |
79966 |
2.50106E-5 |
39983 |
0 |
8.2496E-6 |
2-166848019-A-G
|
p.Ile1922Ile |
synonymous |
SCN1A |
2 |
80028 |
2.49913E-5 |
40014 |
0 |
1.99397E-5 |
2-166848022-A-G
|
p.Ile1921Ile |
synonymous |
SCN1A |
2 |
80038 |
2.49881E-5 |
40019 |
0 |
3.18552E-5 |
2-166848034-T-C
|
p.Val1917Val |
synonymous |
SCN1A |
1 |
80102 |
1.24841E-5 |
40051 |
0 |
3.98715E-6 |
2-166848046-T-C
|
p.Lys1913Lys |
synonymous |
SCN1A |
1 |
80170 |
1.24735E-5 |
40085 |
0 |
1.64908E-4 |
2-166848050-C-T
|
p.Arg1912Gln |
missense |
SCN1A |
2 |
80180 |
2.49439E-5 |
40090 |
0 |
7.97302E-6 |
2-166848057-AAGT-A
|
p.Thr1909del |
conservative_inframe_deletion |
SCN1A |
1 |
80176 |
1.24726E-5 |
40088 |
0 |
NA |
2-166848084-C-T
|
p.Val1901Ile |
missense |
SCN1A |
1 |
80118 |
1.24816E-5 |
40059 |
0 |
NA |
2-166848086-T-C
|
p.Lys1900Arg |
missense |
SCN1A |
1 |
80128 |
1.248E-5 |
40064 |
0 |
3.98769E-6 |
2-166848097-G-A
|
p.Ser1896Ser |
synonymous |
SCN1A |
1 |
80010 |
1.24984E-5 |
40005 |
0 |
NA |
2-166848104-A-G
|
p.Met1894Thr |
missense |
SCN1A |
3 |
79930 |
3.75328E-5 |
39965 |
0 |
6.25E-4 |
2-166848107-A-G
|
p.Phe1893Ser |
missense |
SCN1A |
1 |
79878 |
1.25191E-5 |
39939 |
0 |
NA |
2-166848126-T-C
|
p.Ile1887Val |
missense |
SCN1A |
1 |
79736 |
1.25414E-5 |
39868 |
0 |
NA |
2-166848129-G-A
|
p.Arg1886* |
stop_gained |
SCN1A |
1 |
79714 |
1.25448E-5 |
39857 |
0 |
NA |
2-166848134-G-A
|
p.Ala1884Val |
missense |
SCN1A |
4 |
79658 |
5.02147E-5 |
39829 |
0 |
7.98263E-6 |
2-166848146-C-T
|
p.Gly1880Glu |
missense |
SCN1A |
5 |
79526 |
6.28725E-5 |
39763 |
0 |
1.59337E-4 |
2-166848151-C-T
|
p.Glu1878Glu |
synonymous |
SCN1A |
1 |
79516 |
1.25761E-5 |
39758 |
0 |
8.24457E-6 |
2-166848151-C-G
|
p.Glu1878Asp |
missense |
SCN1A |
3 |
79516 |
3.77283E-5 |
39758 |
0 |
7.9839E-6 |
2-166848151-CTC-ATT
|
p.Glu1878Asn |
missense |
SCN1A |
1 |
79516 |
1.25761E-5 |
39758 |
0 |
NA |
2-166848153-C-G
|
p.Glu1878Gln |
missense |
SCN1A |
2 |
79482 |
2.51629E-5 |
39741 |
0 |
1.64886E-5 |
2-166848203-C-T
|
p.Arg1861Gln |
missense |
SCN1A |
1 |
79000 |
1.26582E-5 |
39500 |
0 |
3.9894E-6 |
2-166848212-C-T
|
p.Ser1858Asn |
missense |
SCN1A |
2 |
79058 |
2.52979E-5 |
39529 |
0 |
NA |
2-166848212-C-G
|
p.Ser1858Thr |
missense |
SCN1A |
1 |
79058 |
1.26489E-5 |
39529 |
0 |
NA |
2-166848214-C-T
|
p.Val1857Val |
synonymous |
SCN1A |
9 |
79110 |
1.13766E-4 |
39555 |
0 |
0.00172051 |
2-166848217-C-T
|
p.Met1856Ile |
missense |
SCN1A |
12 |
79166 |
1.5158E-4 |
39583 |
0 |
4.14171E-4 |
2-166848222-G-A
|
p.Pro1855Ser |
missense |
SCN1A |
1 |
79274 |
1.26145E-5 |
39637 |
0 |
3.98848E-6 |
2-166848223-C-A
|
p.Leu1854Phe |
missense |
SCN1A |
1 |
79304 |
1.26097E-5 |
39652 |
0 |
8.24226E-6 |
2-166848238-G-C
|
p.Leu1849Leu |
synonymous |
SCN1A |
5 |
79836 |
6.26284E-5 |
39918 |
0 |
6.37308E-5 |
2-166848241-C-T
|
p.Gln1848Gln |
synonymous |
SCN1A |
1 |
79884 |
1.25182E-5 |
39942 |
0 |
NA |
2-166848249-T-C
|
p.Lys1846Glu |
missense |
SCN1A |
1 |
79988 |
1.25019E-5 |
39994 |
0 |
8.24117E-6 |
2-166848283-C-T
|
p.Ala1834Ala |
synonymous |
SCN1A |
2 |
80196 |
2.49389E-5 |
40098 |
0 |
8.24158E-6 |
2-166848296-T-G
|
p.Gln1830Pro |
missense |
SCN1A |
1 |
80400 |
1.24378E-5 |
40200 |
0 |
3.18837E-5 |
2-166848296-T-A
|
p.Gln1830Leu |
missense |
SCN1A |
2 |
80400 |
2.48756E-5 |
40200 |
0 |
NA |
2-166848315-C-G
|
p.Glu1824Gln |
missense |
SCN1A |
1 |
80620 |
1.24039E-5 |
40310 |
0 |
NA |
2-166848318-T-A
|
p.Met1823Leu |
missense |
SCN1A |
1 |
80668 |
1.23965E-5 |
40334 |
0 |
NA |
2-166848334-G-A
|
p.Pro1817Pro |
synonymous |
SCN1A |
1 |
80754 |
1.23833E-5 |
40377 |
0 |
8.24117E-6 |
2-166848343-C-T
|
p.Lys1814Lys |
synonymous |
SCN1A |
1 |
80790 |
1.23778E-5 |
40395 |
0 |
3.18898E-5 |
2-166848343-C-G
|
p.Lys1814Asn |
missense |
SCN1A |
1 |
80790 |
1.23778E-5 |
40395 |
0 |
3.98032E-6 |
2-166848351-A-C
|
p.Trp1812Gly |
missense |
SCN1A |
1 |
80812 |
1.23744E-5 |
40406 |
0 |
NA |
2-166848352-A-G
|
p.Val1811Val |
synonymous |
SCN1A |
2 |
80810 |
2.47494E-5 |
40405 |
0 |
8.24144E-6 |
2-166848355-C-T
|
p.Glu1810Glu |
synonymous |
SCN1A |
2 |
80810 |
2.47494E-5 |
40405 |
0 |
1.64837E-5 |
2-166848363-A-G
|
p.Phe1808Leu |
missense |
SCN1A |
1 |
80806 |
1.23753E-5 |
40403 |
0 |
NA |
2-166848364-C-T
|
p.Met1807Ile |
missense |
SCN1A |
1 |
80804 |
1.23756E-5 |
40402 |
0 |
NA |
2-166848367-C-T
|
p.Glu1806Glu |
synonymous |
SCN1A |
1365 |
80742 |
0.0169057 |
40371 |
16 |
0.0398185 |
2-166848439-G-A
|
p.Ile1782Ile |
synonymous |
SCN1A |
2 |
80654 |
2.47973E-5 |
40327 |
0 |
2.78731E-5 |
2-166848451-C-T
|
p.Val1778Val |
synonymous |
SCN1A |
1 |
80720 |
1.23885E-5 |
40360 |
0 |
NA |
2-166848464-A-G
|
p.Phe1774Ser |
missense |
SCN1A |
1 |
80778 |
1.23796E-5 |
40389 |
0 |
NA |
2-166848499-T-C
|
p.Gly1762Gly |
synonymous |
SCN1A |
62 |
80894 |
7.66435E-4 |
40447 |
0 |
0.00105708 |
2-166848508-T-G
|
p.Pro1759Pro |
synonymous |
SCN1A |
2 |
80902 |
2.47213E-5 |
40451 |
0 |
NA |
2-166848542-GGGT-G
|
p.Asn1747_Pro1748delinsThr |
disruptive_inframe_deletion |
SCN1A |
1 |
80910 |
1.23594E-5 |
40455 |
0 |
NA |
2-166848547-A-G
|
p.Val1746Val |
synonymous |
SCN1A |
1 |
80900 |
1.23609E-5 |
40450 |
0 |
NA |
2-166848561-C-T
|
p.Asp1742Asn |
missense |
SCN1A |
1 |
80880 |
1.2364E-5 |
40440 |
0 |
1.19399E-5 |
2-166848563-C-G
|
p.Cys1741Ser |
missense |
SCN1A |
2 |
80884 |
2.47268E-5 |
40442 |
0 |
NA |
2-166848567-C-T
|
p.Asp1740Asn |
missense |
SCN1A |
3 |
80868 |
3.70975E-5 |
40434 |
0 |
NA |
2-166848568-G-A
|
p.Pro1739Pro |
synonymous |
SCN1A |
8 |
80880 |
9.8912E-5 |
40440 |
0 |
3.9801E-5 |
2-166848583-G-A
|
p.Leu1734Leu |
synonymous |
SCN1A |
1 |
80884 |
1.23634E-5 |
40442 |
0 |
3.98026E-6 |
2-166848591-G-T
|
p.Pro1732Thr |
missense |
SCN1A |
1 |
80866 |
1.23661E-5 |
40433 |
0 |
NA |
2-166848634-T-C
|
p.Leu1717Leu |
synonymous |
SCN1A |
2 |
80924 |
2.47145E-5 |
40462 |
0 |
3.18776E-5 |
2-166848640-G-C
|
p.Ile1715Met |
missense |
SCN1A |
1 |
80918 |
1.23582E-5 |
40459 |
0 |
NA |
2-166848643-C-A
|
p.Met1714Ile |
missense |
SCN1A |
1 |
80910 |
1.23594E-5 |
40455 |
0 |
3.97959E-6 |
2-166848681-C-T
|
p.Asp1702Asn |
missense |
SCN1A |
1 |
80918 |
1.23582E-5 |
40459 |
0 |
1.19372E-5 |
2-166848722-C-G
|
p.Gly1688Ala |
missense |
SCN1A |
2 |
81012 |
2.46877E-5 |
40506 |
0 |
NA |
2-166848732-C-A
|
p.Ala1685Ser |
missense |
SCN1A |
2 |
81008 |
2.46889E-5 |
40504 |
0 |
8.24103E-6 |
2-166848733-G-A
|
p.Tyr1684Tyr |
synonymous |
SCN1A |
1 |
81014 |
1.23435E-5 |
40507 |
0 |
6.37308E-5 |
2-166848739-GA-G
|
p.Phe1682fs |
frameshift |
SCN1A |
1 |
81032 |
1.23408E-5 |
40516 |
0 |
NA |
2-166848746-A-T
|
p.Val1680Asp |
missense |
SCN1A |
1 |
81034 |
1.23405E-5 |
40517 |
0 |
NA |
2-166848767-A-G
|
p.Ile1673Thr |
missense |
SCN1A |
1 |
81036 |
1.23402E-5 |
40518 |
0 |
NA |
2-166848785-A-G
|
p.Leu1667Pro |
missense |
SCN1A |
1 |
81026 |
1.23417E-5 |
40513 |
0 |
NA |
2-166848815-C-T
|
p.Arg1657His |
missense |
SCN1A |
1 |
81006 |
1.23448E-5 |
40503 |
0 |
NA |
2-166848840-G-A
|
p.Leu1649Leu |
synonymous |
SCN1A |
61 |
80992 |
7.53161E-4 |
40496 |
0 |
0.005625 |
2-166848842-C-T
|
p.Arg1648His |
missense |
SCN1A |
1 |
81006 |
1.23448E-5 |
40503 |
0 |
3.97842E-6 |
2-166848844-T-C
|
p.Leu1647Leu |
synonymous |
SCN1A |
1 |
81006 |
1.23448E-5 |
40503 |
0 |
1.64859E-5 |
2-166848847-G-A
|
p.Ile1646Ile |
synonymous |
SCN1A |
1 |
81008 |
1.23445E-5 |
40504 |
0 |
2.47268E-5 |
2-166848879-G-T
|
p.Arg1636Arg |
synonymous |
SCN1A |
2 |
80972 |
2.46999E-5 |
40486 |
0 |
2.233E-4 |
2-166848879-G-A
|
p.Arg1636* |
stop_gained |
SCN1A |
1 |
80972 |
1.23499E-5 |
40486 |
0 |
NA |
2-166848880-G-A
|
p.Phe1635Phe |
synonymous |
SCN1A |
7 |
80964 |
8.64582E-5 |
40482 |
0 |
1.31883E-4 |
2-166848898-G-A
|
p.Phe1629Phe |
synonymous |
SCN1A |
15 |
80890 |
1.85437E-4 |
40445 |
0 |
5.04032E-4 |
2-166848913-C-T
|
p.Leu1624Leu |
synonymous |
SCN1A |
58 |
80780 |
7.18E-4 |
40390 |
0 |
5.03525E-4 |
2-166848930-T-C
|
p.Met1619Val |
missense+splice_region |
SCN1A |
7 |
80396 |
8.7069E-5 |
40198 |
1 |
0.00252016 |
2-166848937-G-GTT
|
c.4853-6_4853-5insAA |
splice_region |
SCN1A |
2 |
80140 |
2.49563E-5 |
40070 |
0 |
3.99131E-6 |
2-166848938-A-G
|
c.4853-6T>C |
splice_region |
SCN1A |
2 |
80032 |
2.499E-5 |
40016 |
0 |
NA |
2-166848939-A-AGAGGGAAG
|
c.4853-8_4853-7insCTTCCCTC |
splice_region |
SCN1A |
1 |
80006 |
1.24991E-5 |
40003 |
0 |
NA |
2-166850660-A-G
|
p.Ile1616Ile |
synonymous |
SCN1A |
4 |
79880 |
5.00751E-5 |
39940 |
2 |
6.25E-4 |
2-166850674-C-T
|
p.Val1612Ile |
missense |
SCN1A |
2 |
80106 |
2.49669E-5 |
40053 |
0 |
2.1023E-4 |
2-166850704-T-C
|
p.Ile1602Val |
missense |
SCN1A |
1 |
80360 |
1.2444E-5 |
40180 |
0 |
NA |
2-166850715-T-A
|
p.Tyr1598Phe |
missense |
SCN1A |
4 |
80366 |
4.97723E-5 |
40183 |
0 |
8.68734E-6 |
2-166850717-A-G
|
p.His1597His |
synonymous |
SCN1A |
1 |
80380 |
1.24409E-5 |
40190 |
0 |
9.5584E-5 |
2-166850765-A-G
|
p.Ile1581Ile |
synonymous |
SCN1A |
1 |
80324 |
1.24496E-5 |
40162 |
0 |
3.18695E-5 |
2-166850766-A-G
|
p.Ile1581Thr |
missense |
SCN1A |
1 |
80318 |
1.24505E-5 |
40159 |
0 |
NA |
2-166850777-A-G
|
p.Asn1577Asn |
synonymous |
SCN1A |
77 |
80286 |
9.59071E-4 |
40143 |
0 |
0.00136127 |
2-166850785-G-A
|
p.Arg1575Cys |
missense |
SCN1A |
6 |
80262 |
7.47552E-5 |
40131 |
0 |
7.46752E-5 |
2-166850838-G-A
|
p.Thr1557Ile |
missense |
SCN1A |
1 |
80098 |
1.24847E-5 |
40049 |
0 |
NA |
2-166850840-G-T
|
p.Val1556Val |
synonymous |
SCN1A |
4 |
80090 |
4.99438E-5 |
40045 |
0 |
1.99668E-5 |
2-166850860-G-A
|
p.Leu1550Phe |
missense |
SCN1A |
4 |
79964 |
5.00225E-5 |
39982 |
0 |
NA |
2-166850897-G-A
|
p.Phe1537Phe |
synonymous |
SCN1A |
1 |
79450 |
1.25865E-5 |
39725 |
0 |
8.30068E-6 |
2-166850925-T-C
|
p.Asn1528Ser |
missense+splice_region |
SCN1A |
1 |
78764 |
1.26962E-5 |
39382 |
0 |
NA |
2-166852523-T-C
|
p.Gly1527Gly |
splice_region+synonymous |
SCN1A |
2 |
79314 |
2.52162E-5 |
39657 |
0 |
NA |
2-166852530-C-T
|
p.Arg1525Gln |
missense |
SCN1A |
1 |
79500 |
1.25786E-5 |
39750 |
0 |
3.991E-6 |
2-166852534-G-T
|
p.Pro1524Thr |
missense |
SCN1A |
2 |
79692 |
2.50966E-5 |
39846 |
0 |
9.59754E-5 |
2-166852547-C-T
|
p.Pro1519Pro |
synonymous |
SCN1A |
8 |
79910 |
1.00113E-4 |
39955 |
0 |
0.00101729 |
2-166852548-G-T
|
p.Pro1519Gln |
missense |
SCN1A |
1 |
79924 |
1.25119E-5 |
39962 |
0 |
NA |
2-166852553-T-C
|
p.Lys1517Lys |
synonymous |
SCN1A |
5 |
80024 |
6.24813E-5 |
40012 |
0 |
0.00101729 |
2-166852556-C-T
|
p.Ser1516Ser |
synonymous |
SCN1A |
59 |
80034 |
7.37187E-4 |
40017 |
0 |
0.00152594 |
2-166852557-G-A
|
p.Ser1516Leu |
missense |
SCN1A |
1 |
80040 |
1.24938E-5 |
40020 |
0 |
2.48694E-5 |
2-166852557-G-T
|
p.Ser1516* |
stop_gained |
SCN1A |
1 |
80040 |
1.24938E-5 |
40020 |
0 |
NA |
2-166852575-G-T
|
p.Ala1510Glu |
missense |
SCN1A |
1 |
80142 |
1.24779E-5 |
40071 |
0 |
NA |
2-166852580-A-G
|
p.Tyr1508Tyr |
synonymous |
SCN1A |
1 |
80114 |
1.24822E-5 |
40057 |
0 |
8.29807E-6 |
2-166852583-G-A
|
p.Tyr1507Tyr |
synonymous |
SCN1A |
1 |
80090 |
1.2486E-5 |
40045 |
0 |
NA |
2-166852625-A-G
|
p.Phe1493Phe |
splice_region+synonymous |
SCN1A |
1 |
79234 |
1.26208E-5 |
39617 |
0 |
4.00959E-6 |
2-166854572-A-G
|
p.Asp1484Asp |
synonymous |
SCN1A |
15 |
80284 |
1.86837E-4 |
40142 |
0 |
3.20041E-5 |
2-166854631-T-C
|
p.Ile1465Val |
missense |
SCN1A |
40 |
80220 |
4.98629E-4 |
40110 |
0 |
0.00128296 |
2-166854634-C-A
|
p.Val1464Phe |
missense |
SCN1A |
1 |
80196 |
1.24694E-5 |
40098 |
0 |
NA |
2-166854638-G-A
|
p.Tyr1462Tyr |
synonymous |
SCN1A |
1 |
80162 |
1.24747E-5 |
40081 |
0 |
1.6655E-5 |
2-166854639-T-TA
|
p.Tyr1462fs |
frameshift |
SCN1A |
1 |
80140 |
1.24782E-5 |
40070 |
0 |
NA |
2-166854672-G-A
|
p.Pro1451Leu |
missense |
SCN1A |
1 |
79994 |
1.25009E-5 |
39997 |
0 |
NA |
2-166854679-G-A
|
p.Leu1449Phe |
missense |
SCN1A |
2 |
79968 |
2.501E-5 |
39984 |
0 |
3.20554E-5 |
2-166854682-C-G
|
p.Glu1448Gln |
missense |
SCN1A |
1 |
79970 |
1.25047E-5 |
39985 |
0 |
3.20533E-5 |
2-166854689-C-T
|
c.4339-4G>A |
splice_region |
SCN1A |
1 |
79926 |
1.25116E-5 |
39963 |
0 |
NA |
2-166856254-A-G
|
p.Tyr1439Tyr |
synonymous |
SCN1A |
1 |
79762 |
1.25373E-5 |
39881 |
0 |
1.03891E-4 |
2-166856263-A-G
|
p.Asp1436Asp |
synonymous |
SCN1A |
2 |
79706 |
2.50922E-5 |
39853 |
0 |
NA |
2-166856278-G-A
|
p.Phe1431Phe |
synonymous |
SCN1A |
2 |
79744 |
2.50803E-5 |
39872 |
0 |
NA |
2-166856289-A-G
|
c.4285-3T>C |
splice_region |
SCN1A |
2 |
79646 |
2.51111E-5 |
39823 |
0 |
NA |
2-166858975-C-T
|
c.4284+7G>A |
splice_region |
SCN1A |
1 |
79850 |
1.25235E-5 |
39925 |
0 |
3.19244E-5 |
2-166859000-A-T
|
p.Tyr1422* |
stop_gained |
SCN1A |
1 |
80218 |
1.2466E-5 |
40109 |
0 |
NA |
2-166859001-T-C
|
p.Tyr1422Cys |
missense |
SCN1A |
1 |
80218 |
1.2466E-5 |
40109 |
0 |
4.00577E-6 |
2-166859003-C-A
|
p.Gly1421Gly |
synonymous |
SCN1A |
2 |
80226 |
2.49296E-5 |
40113 |
0 |
NA |
2-166859005-C-CA
|
p.Gly1421fs |
frameshift |
SCN1A |
1 |
80228 |
1.24645E-5 |
40114 |
0 |
NA |
2-166859036-A-G
|
p.Asn1410Asn |
synonymous |
SCN1A |
1 |
80398 |
1.24381E-5 |
40199 |
0 |
NA |
2-166859084-A-G
|
p.Thr1394Thr |
synonymous |
SCN1A |
1 |
80404 |
1.24372E-5 |
40202 |
0 |
NA |
2-166859093-A-C
|
p.Asn1391Lys |
missense |
SCN1A |
1 |
80408 |
1.24366E-5 |
40204 |
0 |
NA |
2-166859099-G-A
|
p.Asp1389Asp |
synonymous |
SCN1A |
2 |
80400 |
2.48756E-5 |
40200 |
0 |
1.99601E-5 |
2-166859104-C-T
|
p.Glu1388Lys |
missense |
SCN1A |
1 |
80388 |
1.24397E-5 |
40194 |
0 |
1.65516E-5 |
2-166859114-C-T
|
p.Arg1384Arg |
synonymous |
SCN1A |
3 |
80386 |
3.73199E-5 |
40193 |
0 |
NA |
2-166859137-T-C
|
p.Ile1377Val |
missense |
SCN1A |
3 |
80372 |
3.73264E-5 |
40186 |
0 |
1.5951E-4 |
2-166859141-G-A
|
p.His1375His |
synonymous |
SCN1A |
3 |
80370 |
3.73274E-5 |
40185 |
0 |
1.65486E-5 |
2-166859153-G-A
|
p.Gly1371Gly |
synonymous |
SCN1A |
2 |
80336 |
2.48954E-5 |
40168 |
0 |
NA |
2-166859157-G-GT
|
p.Ala1370fs |
frameshift |
SCN1A |
1 |
80332 |
1.24483E-5 |
40166 |
0 |
NA |
2-166859158-C-G
|
p.Ala1370Pro |
missense |
SCN1A |
1 |
80332 |
1.24483E-5 |
40166 |
0 |
NA |
2-166859159-A-C
|
p.Phe1369Leu |
missense |
SCN1A |
2 |
80336 |
2.48954E-5 |
40168 |
0 |
NA |
2-166859170-C-T
|
p.Val1366Ile |
missense |
SCN1A |
3 |
80280 |
3.73692E-5 |
40140 |
0 |
1.99808E-5 |
2-166859171-G-A
|
p.Gly1365Gly |
synonymous |
SCN1A |
6 |
80268 |
7.47496E-5 |
40134 |
0 |
3.19122E-5 |
2-166859175-A-G
|
p.Met1364Thr |
missense |
SCN1A |
1 |
80260 |
1.24595E-5 |
40130 |
0 |
NA |
2-166859187-A-G
|
p.Ile1360Thr |
missense |
SCN1A |
1 |
80234 |
1.24635E-5 |
40117 |
0 |
NA |
2-166859216-C-T
|
p.Val1350Val |
synonymous |
SCN1A |
1 |
80126 |
1.24803E-5 |
40063 |
0 |
NA |
2-166859219-A-G
|
p.Asn1349Asn |
synonymous |
SCN1A |
1 |
80124 |
1.24807E-5 |
40062 |
0 |
NA |
2-166859254-T-C
|
p.Asn1338Asp |
missense |
SCN1A |
3 |
79946 |
3.75253E-5 |
39973 |
0 |
4.02752E-6 |
2-166866221-T-C
|
c.4002+8A>G |
splice_region |
SCN1A |
1 |
79916 |
1.25131E-5 |
39958 |
0 |
3.19673E-5 |
2-166866229-C-T
|
p.Arg1334Arg |
splice_region+synonymous |
SCN1A |
1 |
79962 |
1.25059E-5 |
39981 |
0 |
1.68223E-5 |
2-166866230-C-T
|
p.Arg1334Lys |
missense+splice_region |
SCN1A |
1 |
79994 |
1.25009E-5 |
39997 |
0 |
3.20369E-5 |
2-166866252-A-G
|
p.Leu1327Leu |
synonymous |
SCN1A |
1 |
80058 |
1.24909E-5 |
40029 |
0 |
4.00497E-6 |
2-166866253-G-A
|
p.Ala1326Ala |
synonymous |
SCN1A |
2 |
80062 |
2.49806E-5 |
40031 |
0 |
4.16799E-5 |
2-166866256-T-C
|
p.Arg1325Arg |
synonymous |
SCN1A |
1 |
80076 |
1.24881E-5 |
40038 |
0 |
NA |
2-166866283-C-T
|
p.Arg1316Arg |
synonymous |
SCN1A |
30 |
80162 |
3.74242E-4 |
40081 |
0 |
5.12066E-4 |
2-166866306-G-A
|
p.Leu1309Phe |
missense |
SCN1A |
3 |
80142 |
3.74336E-5 |
40071 |
0 |
3.99648E-6 |
2-166866307-T-A
|
p.Glu1308Asp |
missense |
SCN1A |
56 |
80144 |
6.98742E-4 |
40072 |
0 |
7.54861E-4 |
2-166866325-A-AT
|
p.Asn1302fs |
frameshift |
SCN1A |
1 |
80108 |
1.24831E-5 |
40054 |
0 |
NA |
2-166866332-G-A
|
p.Thr1300Ile |
missense |
SCN1A |
22 |
80096 |
2.7467E-4 |
40048 |
0 |
0.0040282 |
2-166866342-C-T
|
p.Val1297Ile |
missense |
SCN1A |
3 |
80070 |
3.74672E-5 |
40035 |
0 |
3.20246E-5 |
2-166866345-A-G
|
p.Leu1296Leu |
synonymous |
SCN1A |
5 |
80074 |
6.24422E-5 |
40037 |
0 |
0.00100705 |
2-166866345-A-T
|
p.Leu1296Met |
missense |
SCN1A |
1 |
80074 |
1.24884E-5 |
40037 |
0 |
3.99767E-6 |
2-166868617-A-G
|
c.3879+2T>C |
splice_donor |
SCN1A |
1 |
79908 |
1.25144E-5 |
39954 |
0 |
NA |
2-166868652-A-G
|
p.Asn1282Asn |
synonymous |
SCN1A |
1 |
80054 |
1.24916E-5 |
40027 |
0 |
NA |
2-166868660-A-C
|
p.Phe1280Val |
missense |
SCN1A |
1 |
80052 |
1.24919E-5 |
40026 |
0 |
NA |
2-166868673-G-A
|
p.Gly1275Gly |
synonymous |
SCN1A |
1 |
80030 |
1.24953E-5 |
40015 |
0 |
NA |
2-166868689-T-G
|
p.Lys1270Thr |
missense |
SCN1A |
1 |
80012 |
1.24981E-5 |
40006 |
0 |
NA |
2-166868694-A-G
|
p.Leu1268Leu |
synonymous |
SCN1A |
32 |
79998 |
4.0001E-4 |
39999 |
0 |
0.00166251 |
2-166868706-A-G
|
p.Ile1264Ile |
synonymous |
SCN1A |
4 |
79974 |
5.00163E-5 |
39987 |
0 |
8.30855E-6 |
2-166868714-T-TGTAA
|
p.Ile1262fs |
frameshift |
SCN1A |
1 |
79928 |
1.25113E-5 |
39964 |
0 |
NA |
2-166868720-T-G
|
p.Thr1260Pro |
missense |
SCN1A |
1 |
79922 |
1.25122E-5 |
39961 |
0 |
NA |
2-166868722-A-G
|
p.Phe1259Ser |
missense |
SCN1A |
3 |
79930 |
3.75328E-5 |
39965 |
0 |
8.00147E-6 |
2-166868735-C-T
|
p.Ala1255Thr |
missense |
SCN1A |
1 |
79870 |
1.25203E-5 |
39935 |
0 |
1.68062E-5 |
2-166868736-A-G
|
p.Tyr1254Tyr |
synonymous |
SCN1A |
1 |
79892 |
1.25169E-5 |
39946 |
0 |
4.00532E-6 |
2-166868744-A-G
|
p.Leu1252Leu |
synonymous |
SCN1A |
1 |
79826 |
1.25272E-5 |
39913 |
0 |
NA |
2-166868746-A-G
|
p.Met1251Thr |
missense |
SCN1A |
1 |
79806 |
1.25304E-5 |
39903 |
0 |
3.42472E-5 |
2-166868749-G-A
|
p.Thr1250Met |
missense |
SCN1A |
12 |
79822 |
1.50334E-4 |
39911 |
0 |
6.25E-4 |
2-166868757-C-T
|
p.Thr1247Thr |
synonymous |
SCN1A |
3 |
79764 |
3.7611E-5 |
39882 |
0 |
2.00676E-5 |
2-166868766-C-T
|
p.Gln1244Gln |
synonymous |
SCN1A |
2 |
79618 |
2.51199E-5 |
39809 |
0 |
3.19754E-5 |
2-166868772-A-G
|
p.Ile1242Ile |
synonymous |
SCN1A |
4 |
79592 |
5.02563E-5 |
39796 |
0 |
1.59765E-4 |
2-166868775-A-G
|
p.Tyr1241Tyr |
synonymous |
SCN1A |
1354 |
79502 |
0.017031 |
39751 |
58 |
0.0359197 |
2-166868779-A-G
|
p.Ile1240Thr |
missense |
SCN1A |
5 |
79490 |
6.2901E-5 |
39745 |
0 |
1.89487E-5 |
2-166868781-A-G
|
p.Asp1239Asp |
synonymous |
SCN1A |
3 |
79480 |
3.77453E-5 |
39740 |
0 |
2.23599E-4 |
2-166868781-AT-A
|
p.Asp1239fs |
frameshift |
SCN1A |
1 |
79480 |
1.25818E-5 |
39740 |
0 |
NA |
2-166868784-T-G
|
p.Glu1238Asp |
missense |
SCN1A |
22 |
79460 |
2.76869E-4 |
39730 |
0 |
0.0010101 |
2-166868787-A-G
|
p.Phe1237Phe |
synonymous |
SCN1A |
1 |
79430 |
1.25897E-5 |
39715 |
0 |
NA |
2-166868790-T-TTCTACAATA
|
p.Ala1236_Phe1237insIleValGlu |
disruptive_inframe_insertion |
SCN1A |
1 |
79400 |
1.25945E-5 |
39700 |
0 |
NA |
2-166868791-G-T
|
p.Ala1236Glu |
missense+splice_region |
SCN1A |
2 |
79380 |
2.51953E-5 |
39690 |
0 |
NA |
2-166868792-C-CTA
|
c.3706-1_3706insTA |
splice_acceptor |
SCN1A |
2 |
79338 |
2.52086E-5 |
39669 |
0 |
NA |
2-166868794-T-A
|
c.3706-2A>T |
splice_acceptor |
SCN1A |
1 |
79328 |
1.26059E-5 |
39664 |
0 |
NA |
2-166870266-A-G
|
p.Ser1231Ser |
synonymous |
SCN1A |
1 |
80370 |
1.24425E-5 |
40185 |
0 |
9.57732E-5 |
2-166870278-C-T
|
p.Met1227Ile |
missense |
SCN1A |
1 |
80438 |
1.24319E-5 |
40219 |
0 |
NA |
2-166870309-T-C
|
p.His1217Arg |
missense |
SCN1A |
1 |
80546 |
1.24153E-5 |
40273 |
0 |
NA |
2-166870319-T-C
|
p.Ile1214Val |
missense |
SCN1A |
1 |
80554 |
1.2414E-5 |
40277 |
0 |
NA |
2-166870320-T-G
|
p.Arg1213Arg |
synonymous |
SCN1A |
1 |
80558 |
1.24134E-5 |
40279 |
0 |
NA |
2-166870322-G-A
|
p.Arg1213* |
stop_gained |
SCN1A |
2 |
80570 |
2.48231E-5 |
40285 |
0 |
NA |
2-166870330-G-A
|
p.Thr1210Met |
missense |
SCN1A |
4 |
80566 |
4.96487E-5 |
40283 |
0 |
2.47721E-5 |
2-166870348-C-G
|
p.Trp1204Ser |
missense |
SCN1A |
1 |
80518 |
1.24196E-5 |
40259 |
0 |
NA |
2-166870362-G-A
|
p.Gly1199Gly |
synonymous |
SCN1A |
1 |
80512 |
1.24205E-5 |
40256 |
0 |
3.19101E-5 |
2-166870374-A-G
|
p.Asn1195Asn |
synonymous |
SCN1A |
5 |
80518 |
6.20979E-5 |
40259 |
0 |
3.19E-5 |
2-166870375-T-C
|
p.Asn1195Ser |
missense |
SCN1A |
2 |
80504 |
2.48435E-5 |
40252 |
0 |
3.29853E-5 |
2-166870380-T-G
|
p.Gln1193His |
missense |
SCN1A |
4 |
80486 |
4.96981E-5 |
40243 |
0 |
NA |
2-166870383-A-G
|
p.Cys1192Cys |
synonymous |
SCN1A |
1 |
80494 |
1.24233E-5 |
40247 |
0 |
8.2462E-6 |
2-166870386-A-G
|
p.Cys1191Cys |
synonymous |
SCN1A |
2 |
80500 |
2.48447E-5 |
40250 |
0 |
7.17789E-5 |
2-166870394-A-G
|
p.Phe1189Leu |
missense |
SCN1A |
1 |
80466 |
1.24276E-5 |
40233 |
0 |
NA |
2-166870398-T-G
|
p.Gln1187His |
missense |
SCN1A |
1 |
80456 |
1.24292E-5 |
40228 |
0 |
3.99093E-6 |
2-166870403-C-A
|
p.Val1186Leu |
missense |
SCN1A |
4 |
80438 |
4.97277E-5 |
40219 |
0 |
3.99466E-5 |
2-166870403-C-T
|
p.Val1186Ile |
missense |
SCN1A |
3 |
80438 |
3.72958E-5 |
40219 |
0 |
NA |
2-166870411-G-A
|
c.3551-3C>T |
splice_region |
SCN1A |
2 |
80386 |
2.488E-5 |
40193 |
0 |
4.00026E-6 |
2-166870412-C-T
|
c.3551-4G>A |
splice_region |
SCN1A |
2 |
80380 |
2.48818E-5 |
40190 |
0 |
8.2496E-6 |
2-166872109-T-C
|
c.3550+8A>G |
splice_region |
SCN1A |
1 |
80624 |
1.24033E-5 |
40312 |
0 |
NA |
2-166872140-T-C
|
p.Glu1176Gly |
missense |
SCN1A |
1 |
80642 |
1.24005E-5 |
40321 |
0 |
NA |
2-166872146-G-C
|
p.Thr1174Ser |
missense |
SCN1A |
183 |
80650 |
0.00226906 |
40325 |
0 |
0.00213607 |
2-166872155-G-A
|
p.Pro1171Leu |
missense |
SCN1A |
1 |
80664 |
1.23971E-5 |
40332 |
0 |
NA |
2-166872166-G-A
|
p.Pro1167Pro |
synonymous |
SCN1A |
3 |
80658 |
3.71941E-5 |
40329 |
0 |
1.64823E-5 |
2-166872169-C-T
|
p.Gln1166Gln |
synonymous |
SCN1A |
6 |
80660 |
7.43863E-5 |
40330 |
0 |
6.37592E-5 |
2-166872171-G-T
|
p.Gln1166Lys |
missense |
SCN1A |
2 |
80660 |
2.47954E-5 |
40330 |
0 |
3.2962E-5 |
2-166872186-C-T
|
p.Ala1161Thr |
missense |
SCN1A |
32 |
80598 |
3.97032E-4 |
40299 |
0 |
0.001875 |
2-166872187-G-A
|
p.Gly1160Gly |
synonymous |
SCN1A |
6 |
80590 |
7.44509E-5 |
40295 |
0 |
9.56877E-5 |
2-166872187-G-T
|
p.Gly1160Gly |
synonymous |
SCN1A |
1 |
80590 |
1.24085E-5 |
40295 |
0 |
6.37918E-5 |
2-166872189-C-T
|
p.Gly1160Ser |
missense |
SCN1A |
7 |
80586 |
8.68637E-5 |
40293 |
0 |
3.58449E-5 |
2-166872190-G-A
|
p.Ile1159Ile |
synonymous |
SCN1A |
2 |
80588 |
2.48176E-5 |
40294 |
0 |
3.29685E-5 |
2-166872192-T-C
|
p.Ile1159Val |
missense |
SCN1A |
2 |
80574 |
2.48219E-5 |
40287 |
0 |
1.64834E-5 |
2-166872215-G-T
|
p.Ser1151* |
stop_gained |
SCN1A |
1 |
80534 |
1.24171E-5 |
40267 |
0 |
NA |
2-166872244-G-T
|
c.3430-7C>A |
splice_region |
SCN1A |
2 |
80510 |
2.48416E-5 |
40255 |
0 |
NA |
2-166892571-T-C
|
p.Glu1139Gly |
missense |
SCN1A |
1 |
80866 |
1.23661E-5 |
40433 |
0 |
NA |
2-166892579-C-T
|
p.Ser1136Ser |
synonymous |
SCN1A |
1 |
80890 |
1.23625E-5 |
40445 |
0 |
1.19381E-5 |
2-166892580-G-A
|
p.Ser1136Leu |
missense |
SCN1A |
1 |
80898 |
1.23612E-5 |
40449 |
0 |
7.95824E-6 |
2-166892596-C-T
|
p.Asp1131Asn |
missense |
SCN1A |
2 |
80946 |
2.47078E-5 |
40473 |
0 |
1.64867E-5 |
2-166892597-T-C
|
p.Glu1130Glu |
synonymous |
SCN1A |
1 |
80948 |
1.23536E-5 |
40474 |
0 |
NA |
2-166892600-C-T
|
p.Thr1129Thr |
synonymous |
SCN1A |
4 |
80946 |
4.94157E-5 |
40473 |
0 |
6.25E-4 |
2-166892601-G-A
|
p.Thr1129Met |
missense |
SCN1A |
3 |
80950 |
3.70599E-5 |
40475 |
0 |
6.59533E-5 |
2-166892615-A-C
|
p.Phe1124Leu |
missense |
SCN1A |
2 |
80946 |
2.47078E-5 |
40473 |
0 |
3.97871E-6 |
2-166892657-A-G
|
p.Ser1110Ser |
synonymous |
SCN1A |
3 |
80906 |
3.70801E-5 |
40453 |
0 |
6.25E-4 |
2-166892660-G-A
|
p.Pro1109Pro |
synonymous |
SCN1A |
1 |
80898 |
1.23612E-5 |
40449 |
0 |
NA |
2-166892662-G-T
|
p.Pro1109Thr |
missense |
SCN1A |
4 |
80896 |
4.94462E-5 |
40448 |
0 |
1.59151E-5 |
2-166892680-T-C
|
p.Met1103Val |
missense |
SCN1A |
2 |
80896 |
2.47231E-5 |
40448 |
0 |
NA |
2-166892692-C-A
|
p.Glu1099* |
stop_gained |
SCN1A |
1 |
80866 |
1.23661E-5 |
40433 |
0 |
NA |
2-166892695-C-T
|
p.Asp1098Asn |
missense |
SCN1A |
1 |
80864 |
1.23664E-5 |
40432 |
0 |
NA |
2-166892698-T-C
|
p.Ile1097Val |
missense |
SCN1A |
1 |
80858 |
1.23674E-5 |
40429 |
0 |
NA |
2-166892704-A-G
|
p.Tyr1095His |
missense |
SCN1A |
1 |
80862 |
1.23667E-5 |
40431 |
0 |
3.18532E-5 |
2-166892711-A-C
|
p.Val1092Val |
synonymous |
SCN1A |
1 |
80850 |
1.23686E-5 |
40425 |
0 |
1.59166E-5 |
2-166892727-C-T
|
p.Gly1087Glu |
missense |
SCN1A |
2 |
80792 |
2.47549E-5 |
40396 |
0 |
NA |
2-166892729-T-A
|
p.Ile1086Ile |
synonymous |
SCN1A |
2 |
80780 |
2.47586E-5 |
40390 |
0 |
3.18492E-5 |
2-166892753-A-T
|
p.Asp1078Glu |
missense |
SCN1A |
1 |
80720 |
1.23885E-5 |
40360 |
0 |
NA |
2-166892762-A-G
|
p.Tyr1075Tyr |
synonymous |
SCN1A |
1 |
80682 |
1.23943E-5 |
40341 |
0 |
7.96445E-6 |
2-166892767-C-T
|
p.Asp1074Asn |
missense |
SCN1A |
4 |
80652 |
4.95958E-5 |
40326 |
0 |
8.24987E-6 |
2-166892781-A-G
|
p.Ile1069Thr |
missense |
SCN1A |
1 |
80568 |
1.24119E-5 |
40284 |
0 |
NA |
2-166892788-C-T
|
p.Ala1067Thr |
missense |
SCN1A |
55176 |
80336 |
0.686815 |
40168 |
19158 |
0.748278 |
2-166892796-T-C
|
p.Asn1064Ser |
missense |
SCN1A |
2 |
80502 |
2.48441E-5 |
40251 |
0 |
1.66061E-5 |
2-166892811-T-A
|
p.Asp1059Val |
missense |
SCN1A |
2 |
80464 |
2.48558E-5 |
40232 |
0 |
5.59007E-5 |
2-166892820-T-C
|
p.Asn1056Ser |
missense |
SCN1A |
1 |
80420 |
1.24347E-5 |
40210 |
0 |
NA |
2-166892821-T-C
|
p.Asn1056Asp |
missense |
SCN1A |
5 |
80418 |
6.21751E-5 |
40209 |
0 |
4.79716E-5 |
2-166892822-G-A
|
p.Asn1055Asn |
synonymous |
SCN1A |
1 |
80414 |
1.24356E-5 |
40207 |
0 |
NA |
2-166892826-A-C
|
p.Leu1054Arg |
missense |
SCN1A |
1 |
80398 |
1.24381E-5 |
40199 |
0 |
4.00147E-6 |
2-166892838-G-C
|
p.Pro1050Arg |
missense |
SCN1A |
1 |
80326 |
1.24493E-5 |
40163 |
0 |
NA |
2-166892867-C-A
|
p.Arg1040Ser |
missense |
SCN1A |
1 |
80102 |
1.24841E-5 |
40051 |
0 |
2.84562E-5 |
2-166892880-T-G
|
p.Gln1036Pro |
missense |
SCN1A |
1 |
80036 |
1.24944E-5 |
40018 |
0 |
4.1213E-6 |
2-166892886-A-G
|
p.Ile1034Thr |
missense |
SCN1A |
28 |
79976 |
3.50105E-4 |
39988 |
0 |
8.59982E-4 |
2-166892927-G-T
|
p.His1020Gln |
missense |
SCN1A |
3 |
79974 |
3.75122E-5 |
39987 |
0 |
3.18593E-5 |
2-166892929-G-C
|
p.His1020Asp |
missense |
SCN1A |
3 |
79976 |
3.75113E-5 |
39988 |
0 |
NA |
2-166892948-T-C
|
p.Gln1013Gln |
synonymous |
SCN1A |
1 |
80170 |
1.24735E-5 |
40085 |
0 |
3.18492E-5 |
2-166892963-T-G
|
p.Glu1008Asp |
missense |
SCN1A |
1 |
80292 |
1.24545E-5 |
40146 |
0 |
NA |
2-166892971-C-A
|
p.Asp1006Tyr |
missense |
SCN1A |
1 |
80318 |
1.24505E-5 |
40159 |
0 |
NA |
2-166892990-G-T
|
p.Asn999Lys |
missense |
SCN1A |
1 |
80338 |
1.24474E-5 |
40169 |
0 |
NA |
2-166892998-C-T
|
p.Ala997Thr |
missense |
SCN1A |
2 |
80326 |
2.48985E-5 |
40163 |
0 |
4.01365E-6 |
2-166893029-G-C
|
p.Leu986Leu |
synonymous |
SCN1A |
1 |
80142 |
1.24779E-5 |
40071 |
0 |
8.01468E-6 |
2-166893040-C-T
|
p.Val983Ile |
missense+splice_region |
SCN1A |
1 |
79944 |
1.25088E-5 |
39972 |
0 |
NA |
2-166893047-A-C
|
c.2947-7T>G |
splice_region |
SCN1A |
4 |
79840 |
5.01002E-5 |
39920 |
0 |
4.03584E-6 |
2-166894304-C-CT
|
p.Met976fs |
frameshift |
SCN1A |
1 |
81054 |
1.23375E-5 |
40527 |
0 |
NA |
2-166894305-A-G
|
p.Met976Thr |
missense |
SCN1A |
1 |
81058 |
1.23368E-5 |
40529 |
0 |
NA |
2-166894306-T-G
|
p.Met976Leu |
missense |
SCN1A |
8 |
81060 |
9.86923E-5 |
40530 |
0 |
3.97668E-5 |
2-166894321-C-T
|
p.Val971Ile |
missense |
SCN1A |
3 |
81080 |
3.70005E-5 |
40540 |
0 |
8.23669E-6 |
2-166894343-A-G
|
p.Ala963Ala |
synonymous |
SCN1A |
329 |
81070 |
0.00405822 |
40535 |
0 |
0.00956697 |
2-166894344-G-A
|
p.Ala963Val |
missense |
SCN1A |
1 |
81082 |
1.23332E-5 |
40541 |
0 |
NA |
2-166894355-A-G
|
p.Cys959Cys |
synonymous |
SCN1A |
3 |
81086 |
3.69978E-5 |
40543 |
0 |
6.25E-4 |
2-166894356-C-T
|
p.Cys959Tyr |
missense |
SCN1A |
1 |
81086 |
1.23326E-5 |
40543 |
0 |
NA |
2-166894356-CA-C
|
p.Cys959fs |
frameshift |
SCN1A |
1 |
81086 |
1.23326E-5 |
40543 |
0 |
NA |
2-166894391-C-T
|
p.Val947Val |
synonymous |
SCN1A |
3 |
81098 |
3.69923E-5 |
40549 |
0 |
6.37105E-5 |
2-166894394-G-A
|
p.Arg946Arg |
synonymous |
SCN1A |
6 |
81096 |
7.39864E-5 |
40548 |
0 |
3.18593E-5 |
2-166894396-G-A
|
p.Arg946Cys |
missense |
SCN1A |
1 |
81098 |
1.23308E-5 |
40549 |
0 |
NA |
2-166894397-G-A
|
p.Phe945Phe |
synonymous |
SCN1A |
1 |
81096 |
1.23311E-5 |
40548 |
0 |
NA |
2-166894408-G-A
|
p.Leu942Leu |
synonymous |
SCN1A |
1 |
81096 |
1.23311E-5 |
40548 |
0 |
NA |
2-166894417-G-A
|
p.His939Tyr |
missense |
SCN1A |
1 |
81086 |
1.23326E-5 |
40543 |
0 |
NA |
2-166894421-G-A
|
p.Phe937Phe |
synonymous |
SCN1A |
5 |
81090 |
6.16599E-5 |
40545 |
0 |
1.27397E-4 |
2-166894439-G-C
|
p.Arg931Arg |
synonymous |
SCN1A |
1 |
81082 |
1.23332E-5 |
40541 |
0 |
NA |
2-166894462-C-T
|
p.Ala924Thr |
missense |
SCN1A |
9 |
81088 |
1.10991E-4 |
40544 |
0 |
1.07375E-4 |
2-166894463-G-A
|
p.Ile923Ile |
synonymous |
SCN1A |
2 |
81088 |
2.46646E-5 |
40544 |
0 |
8.23655E-6 |
2-166894495-C-T
|
p.Gly913Ser |
missense |
SCN1A |
1 |
81084 |
1.23329E-5 |
40542 |
0 |
NA |
2-166894498-A-T
|
p.Phe912Ile |
missense |
SCN1A |
1 |
81080 |
1.23335E-5 |
40540 |
0 |
NA |
2-166894502-C-G
|
p.Gln910His |
missense |
SCN1A |
1 |
81082 |
1.23332E-5 |
40541 |
0 |
NA |
2-166894511-G-A
|
p.Val907Val |
synonymous |
SCN1A |
4 |
81080 |
4.9334E-5 |
40540 |
0 |
8.23669E-6 |
2-166894514-C-A
|
p.Val906Val |
synonymous |
SCN1A |
1 |
81084 |
1.23329E-5 |
40542 |
0 |
NA |
2-166894516-C-T
|
p.Val906Met |
missense |
SCN1A |
3 |
81078 |
3.70014E-5 |
40539 |
0 |
3.18573E-5 |
2-166894517-G-A
|
p.Ala905Ala |
synonymous |
SCN1A |
8 |
81078 |
9.86704E-5 |
40539 |
0 |
5.76568E-5 |
2-166894531-C-T
|
p.Val901Ile |
missense |
SCN1A |
2 |
81074 |
2.46688E-5 |
40537 |
0 |
1.64739E-5 |
2-166894544-G-T
|
p.Val896Val |
synonymous |
SCN1A |
1 |
81056 |
1.23371E-5 |
40528 |
0 |
7.95425E-6 |
2-166894562-C-T
|
p.Leu890Leu |
synonymous |
SCN1A |
1 |
81042 |
1.23393E-5 |
40521 |
0 |
2.47321E-5 |
2-166894565-A-C
|
p.Ala889Ala |
synonymous |
SCN1A |
2 |
81032 |
2.46816E-5 |
40516 |
0 |
3.1837E-5 |
2-166894577-A-G
|
p.Asn885Asn |
synonymous |
SCN1A |
6 |
81010 |
7.40649E-5 |
40505 |
0 |
0.00125 |
2-166894581-C-T
|
p.Gly884Asp |
missense |
SCN1A |
1 |
81002 |
1.23454E-5 |
40501 |
0 |
NA |
2-166894582-C-T
|
p.Gly884Ser |
missense |
SCN1A |
1 |
81000 |
1.23457E-5 |
40500 |
0 |
7.95919E-6 |
2-166894583-G-A
|
p.Ile883Ile |
synonymous |
SCN1A |
2 |
80994 |
2.46932E-5 |
40497 |
0 |
6.36983E-5 |
2-166894631-G-T
|
p.Phe867Leu |
missense |
SCN1A |
1 |
80854 |
1.2368E-5 |
40427 |
0 |
NA |
2-166894637-T-A
|
p.Arg865Arg |
synonymous |
SCN1A |
1 |
80834 |
1.2371E-5 |
40417 |
0 |
NA |
2-166894642-G-A
|
p.Leu864Leu |
splice_region+synonymous |
SCN1A |
1 |
80828 |
1.2372E-5 |
40414 |
0 |
2.67991E-5 |
2-166894645-G-A
|
c.2590-3C>T |
splice_region |
SCN1A |
2 |
80814 |
2.47482E-5 |
40407 |
0 |
4.05785E-6 |
2-166895929-TTA-T
|
c.2589+2_2589+3delTA |
splice_donor |
SCN1A |
1 |
80134 |
1.24791E-5 |
40067 |
0 |
1.98855E-4 |
2-166895942-TGAAC-T
|
p.Arg859fs |
frameshift |
SCN1A |
1 |
80340 |
1.24471E-5 |
40170 |
0 |
NA |
2-166895945-A-G
|
p.Arg859Arg |
synonymous |
SCN1A |
8 |
80422 |
9.94753E-5 |
40211 |
0 |
0.00151057 |
2-166895946-C-T
|
p.Arg859His |
missense |
SCN1A |
1 |
80410 |
1.24363E-5 |
40205 |
0 |
7.98818E-6 |
2-166895963-T-G
|
p.Glu853Asp |
missense |
SCN1A |
1 |
80708 |
1.23903E-5 |
40354 |
0 |
1.19458E-5 |
2-166895970-T-C
|
p.Asn851Ser |
missense |
SCN1A |
1 |
80802 |
1.23759E-5 |
40401 |
0 |
1.65188E-5 |
2-166895971-T-C
|
p.Asn851Asp |
missense |
SCN1A |
2 |
80808 |
2.475E-5 |
40404 |
0 |
6.4222E-5 |
2-166895974-C-T
|
p.Ala850Thr |
missense |
SCN1A |
1 |
80804 |
1.23756E-5 |
40402 |
0 |
8.25968E-6 |
2-166895992-G-A
|
p.Leu844Leu |
synonymous |
SCN1A |
1 |
80878 |
1.23643E-5 |
40439 |
0 |
NA |
2-166895999-C-G
|
p.Thr841Thr |
synonymous |
SCN1A |
1 |
80892 |
1.23622E-5 |
40446 |
0 |
NA |
2-166896001-T-C
|
p.Thr841Ala |
missense |
SCN1A |
2 |
80888 |
2.47255E-5 |
40444 |
0 |
NA |
2-166896002-C-A
|
p.Val840Val |
synonymous |
SCN1A |
2 |
80888 |
2.47255E-5 |
40444 |
0 |
1.59188E-5 |
2-166896013-C-T
|
p.Gly837Ser |
missense |
SCN1A |
2 |
80910 |
2.47188E-5 |
40455 |
0 |
2.47566E-5 |
2-166896014-G-A
|
p.Asp836Asp |
synonymous |
SCN1A |
1 |
80904 |
1.23603E-5 |
40452 |
0 |
3.30158E-5 |
2-166896036-T-A
|
p.Gln829Leu |
missense |
SCN1A |
2 |
80858 |
2.47347E-5 |
40429 |
0 |
NA |
2-166896054-T-C
|
p.Asp823Gly |
missense |
SCN1A |
5 |
80686 |
6.19686E-5 |
40343 |
0 |
NA |
2-166896062-A-AATGTC
|
p.Ile820fs |
frameshift |
SCN1A |
1 |
80560 |
1.24131E-5 |
40280 |
0 |
NA |
2-166896063-A-ATG
|
p.Ile820fs |
frameshift |
SCN1A |
1 |
80546 |
1.24153E-5 |
40273 |
0 |
NA |
2-166896065-A-C
|
p.Ile819Met |
missense |
SCN1A |
1 |
80522 |
1.2419E-5 |
40261 |
0 |
NA |
2-166896071-C-G
|
p.Leu817Leu |
synonymous |
SCN1A |
1 |
80444 |
1.2431E-5 |
40222 |
0 |
3.19142E-5 |
2-166896085-C-T
|
p.Ala813Thr |
missense |
SCN1A |
1 |
80280 |
1.24564E-5 |
40140 |
0 |
8.3011E-6 |
2-166896092-G-A
|
p.Ile810Ile |
synonymous |
SCN1A |
1 |
80254 |
1.24604E-5 |
40127 |
0 |
NA |
2-166896098-A-C
|
p.Thr808Thr |
synonymous |
SCN1A |
1 |
80180 |
1.24719E-5 |
40090 |
0 |
NA |
2-166896101-G-A
|
p.Phe807Phe |
synonymous |
SCN1A |
127 |
80112 |
0.00158528 |
40056 |
1 |
0.00625782 |
2-166897752-C-T
|
p.Val802Ile |
missense |
SCN1A |
2 |
80580 |
2.48201E-5 |
40290 |
0 |
3.98153E-6 |
2-166897774-G-A
|
p.Asp794Asp |
synonymous |
SCN1A |
1 |
80668 |
1.23965E-5 |
40334 |
0 |
NA |
2-166897777-C-T
|
p.Thr793Thr |
synonymous |
SCN1A |
1 |
80668 |
1.23965E-5 |
40334 |
0 |
3.18898E-5 |
2-166897782-T-C
|
p.Met792Val |
missense |
SCN1A |
2 |
80696 |
2.47844E-5 |
40348 |
0 |
3.18593E-5 |
2-166897787-T-A
|
p.Tyr790Phe |
missense |
SCN1A |
2 |
80718 |
2.47776E-5 |
40359 |
0 |
3.18715E-5 |
2-166897792-C-T
|
p.Glu788Glu |
synonymous |
SCN1A |
2 |
80730 |
2.47739E-5 |
40365 |
0 |
NA |
2-166897810-A-G
|
p.Thr782Thr |
synonymous |
SCN1A |
1 |
80786 |
1.23784E-5 |
40393 |
0 |
3.97985E-6 |
2-166897850-A-T
|
p.Phe769Tyr |
missense |
SCN1A |
1 |
80816 |
1.23738E-5 |
40408 |
0 |
NA |
2-166897861-C-T
|
p.Val765Val |
synonymous |
SCN1A |
1 |
80802 |
1.23759E-5 |
40401 |
0 |
NA |
2-166897863-C-T
|
p.Val765Met |
missense |
SCN1A |
1 |
80800 |
1.23762E-5 |
40400 |
0 |
8.2375E-6 |
2-166897864-A-G
|
p.Val764Val |
synonymous |
SCN1A |
55281 |
80510 |
0.686635 |
40255 |
19193 |
0.748431 |
2-166897864-A-T
|
p.Val764Val |
synonymous |
SCN1A |
2 |
80798 |
2.47531E-5 |
40399 |
0 |
8.23805E-6 |
2-166897872-T-G
|
p.Asn762His |
missense |
SCN1A |
2 |
80810 |
2.47494E-5 |
40405 |
0 |
NA |
2-166897878-C-A
|
p.Val760Phe |
missense |
SCN1A |
1 |
80814 |
1.23741E-5 |
40407 |
0 |
NA |
2-166897884-T-G
|
p.Lys758Gln |
missense |
SCN1A |
2 |
80834 |
2.47421E-5 |
40417 |
0 |
NA |
2-166897916-A-G
|
p.Ile747Thr |
missense |
SCN1A |
1 |
80872 |
1.23652E-5 |
40436 |
0 |
7.95824E-6 |
2-166897918-T-A
|
p.Leu746Phe |
missense |
SCN1A |
1 |
80874 |
1.23649E-5 |
40437 |
0 |
3.21812E-5 |
2-166897922-A-C
|
p.Phe745Cys |
missense |
SCN1A |
1 |
80884 |
1.23634E-5 |
40442 |
0 |
2.47235E-5 |
2-166897955-C-T
|
p.Cys734Tyr |
missense |
SCN1A |
1 |
80770 |
1.23808E-5 |
40385 |
0 |
NA |
2-166897971-C-T
|
p.Glu729Lys |
missense |
SCN1A |
1 |
80504 |
1.24217E-5 |
40252 |
0 |
4.97282E-5 |
2-166897983-G-A
|
c.2177-4C>T |
splice_region |
SCN1A |
7 |
79628 |
8.79088E-5 |
39814 |
0 |
4.98311E-4 |
2-166897984-ATT-A
|
c.2177-7_2177-6delAA |
splice_region |
SCN1A |
1 |
79994 |
1.25009E-5 |
39997 |
0 |
4.85432E-6 |
2-166897985-T-TA
|
c.2177-7_2177-6insT |
splice_region |
SCN1A |
12 |
79818 |
1.50342E-4 |
39909 |
0 |
1.21907E-4 |
2-166897985-T-TAA
|
c.2177-7_2177-6insTT |
splice_region |
SCN1A |
1 |
79846 |
1.25241E-5 |
39923 |
0 |
NA |
2-166897985-T-A
|
c.2177-6A>T |
splice_region |
SCN1A |
1 |
79842 |
1.25247E-5 |
39921 |
0 |
NA |
2-166897986-T-TA
|
c.2177-8_2177-7insT |
splice_region |
SCN1A |
152 |
76548 |
0.00198568 |
38274 |
0 |
0.0858998 |
2-166897986-T-TAA
|
c.2177-8_2177-7insTT |
splice_region |
SCN1A |
39 |
79032 |
4.93471E-4 |
39516 |
0 |
0.0110927 |
2-166897986-T-TAAA
|
c.2177-8_2177-7insTTT |
splice_region |
SCN1A |
11 |
79448 |
1.38455E-4 |
39724 |
0 |
0.0010741 |
2-166897986-T-TAAAA
|
c.2177-8_2177-7insTTTT |
splice_region |
SCN1A |
2 |
79508 |
2.51547E-5 |
39754 |
0 |
1.04559E-4 |
2-166897986-T-A
|
c.2177-7A>T |
splice_region |
SCN1A |
5 |
79360 |
6.3004E-5 |
39680 |
0 |
3.91114E-4 |
2-166898808-C-T
|
p.Val724Ile |
missense |
SCN1A |
2 |
80762 |
2.47641E-5 |
40381 |
0 |
3.98235E-6 |
2-166898821-A-G
|
p.Ile719Ile |
synonymous |
SCN1A |
1 |
80790 |
1.23778E-5 |
40395 |
0 |
NA |
2-166898823-T-A
|
p.Ile719Phe |
missense |
SCN1A |
1 |
80788 |
1.23781E-5 |
40394 |
0 |
NA |
2-166898842-T-C
|
p.Arg712Arg |
synonymous |
SCN1A |
1 |
80796 |
1.23769E-5 |
40398 |
0 |
NA |
2-166898853-G-C
|
p.Gln709Glu |
missense |
SCN1A |
1 |
80778 |
1.23796E-5 |
40389 |
0 |
3.18593E-5 |
2-166898884-G-A
|
p.His698His |
synonymous |
SCN1A |
1 |
80788 |
1.23781E-5 |
40394 |
0 |
3.18532E-5 |
2-166898891-G-T
|
p.Ser696Tyr |
missense |
SCN1A |
1 |
80770 |
1.23808E-5 |
40385 |
0 |
3.98032E-6 |
2-166898900-C-A
|
p.Arg693Met |
missense |
SCN1A |
2 |
80766 |
2.47629E-5 |
40383 |
0 |
6.37064E-5 |
2-166898906-T-C
|
p.Lys691Arg |
missense |
SCN1A |
2 |
80740 |
2.47709E-5 |
40370 |
0 |
NA |
2-166898921-T-G
|
p.Glu686Ala |
missense |
SCN1A |
2 |
80716 |
2.47782E-5 |
40358 |
0 |
9.55231E-5 |
2-166898930-G-T
|
p.Thr683Lys |
missense |
SCN1A |
1 |
80668 |
1.23965E-5 |
40334 |
0 |
NA |
2-166898938-T-TA
|
c.2044-5_2044-4insT |
splice_region |
SCN1A |
30 |
80630 |
3.7207E-4 |
40315 |
0 |
0.00147472 |
2-166898938-TA-T
|
c.2044-5delT |
splice_region |
SCN1A |
9 |
80612 |
1.11646E-4 |
40306 |
0 |
0.00495147 |
2-166900179-A-G
|
p.Asn681Asn |
splice_region+synonymous |
SCN1A |
2 |
80336 |
2.48954E-5 |
40168 |
0 |
8.79616E-6 |
2-166900203-T-C
|
p.Ile673Met |
missense |
SCN1A |
1 |
80768 |
1.23811E-5 |
40384 |
0 |
NA |
2-166900204-A-G
|
p.Ile673Thr |
missense |
SCN1A |
1 |
80778 |
1.23796E-5 |
40389 |
0 |
NA |
2-166900230-A-T
|
p.Val664Val |
synonymous |
SCN1A |
1 |
80906 |
1.236E-5 |
40453 |
0 |
NA |
2-166900242-A-C
|
p.Pro660Pro |
synonymous |
SCN1A |
1 |
80940 |
1.23548E-5 |
40470 |
0 |
NA |
2-166900278-A-C
|
p.Asn648Lys |
missense |
SCN1A |
3 |
80926 |
3.70709E-5 |
40463 |
0 |
NA |
2-166900290-A-G
|
p.Thr644Thr |
synonymous |
SCN1A |
1 |
80922 |
1.23576E-5 |
40461 |
0 |
1.98937E-5 |
2-166900293-G-A
|
p.Ser643Ser |
synonymous |
SCN1A |
1 |
80922 |
1.23576E-5 |
40461 |
0 |
3.9788E-6 |
2-166900312-G-A
|
p.Ala637Val |
missense |
SCN1A |
1 |
80908 |
1.23597E-5 |
40454 |
0 |
3.97934E-6 |
2-166900333-C-T
|
p.Arg630Gln |
missense |
SCN1A |
2 |
80940 |
2.47097E-5 |
40470 |
0 |
1.59256E-4 |
2-166900334-G-A
|
p.Arg630Trp |
missense |
SCN1A |
1 |
80950 |
1.23533E-5 |
40475 |
0 |
2.78518E-5 |
2-166900351-T-C
|
p.Gln624Arg |
missense |
SCN1A |
1 |
80972 |
1.23499E-5 |
40486 |
0 |
NA |
2-166900373-T-C
|
p.Arg617Gly |
missense |
SCN1A |
2 |
80962 |
2.47029E-5 |
40481 |
0 |
NA |
2-166900378-C-T
|
p.Gly615Glu |
missense |
SCN1A |
1 |
80962 |
1.23515E-5 |
40481 |
0 |
NA |
2-166900380-G-A
|
p.His614His |
synonymous |
SCN1A |
4 |
80960 |
4.94071E-5 |
40480 |
0 |
1.64775E-5 |
2-166900395-A-G
|
p.Phe609Phe |
synonymous |
SCN1A |
1 |
80956 |
1.23524E-5 |
40478 |
0 |
8.23818E-6 |
2-166900404-A-G
|
p.Asp606Asp |
synonymous |
SCN1A |
1 |
80962 |
1.23515E-5 |
40481 |
0 |
NA |
2-166900408-C-G
|
p.Arg605Thr |
missense |
SCN1A |
2 |
80954 |
2.47054E-5 |
40477 |
0 |
1.59205E-4 |
2-166900411-C-T
|
p.Arg604His |
missense |
SCN1A |
128 |
80942 |
0.00158138 |
40471 |
0 |
0.0075 |
2-166900412-G-A
|
p.Arg604Cys |
missense |
SCN1A |
3 |
80936 |
3.70663E-5 |
40468 |
1 |
6.37146E-5 |
2-166900419-G-A
|
p.Asn601Asn |
synonymous |
SCN1A |
6 |
80918 |
7.41491E-5 |
40459 |
0 |
2.78507E-5 |
2-166900421-T-A
|
p.Asn601Tyr |
missense |
SCN1A |
2 |
80918 |
2.47164E-5 |
40459 |
0 |
NA |
2-166900425-C-T
|
p.Glu599Glu |
synonymous |
SCN1A |
8 |
80912 |
9.88728E-5 |
40456 |
0 |
9.55901E-5 |
2-166900431-G-T
|
p.Thr597Thr |
synonymous |
SCN1A |
1 |
80904 |
1.23603E-5 |
40452 |
0 |
NA |
2-166900432-G-T
|
p.Thr597Asn |
missense |
SCN1A |
14 |
80894 |
1.73066E-4 |
40447 |
0 |
9.55718E-5 |
2-166900452-G-A
|
p.Phe590Phe |
synonymous |
SCN1A |
3 |
80798 |
3.71296E-5 |
40399 |
0 |
2.47133E-5 |
2-166900455-G-A
|
p.Asp589Asp |
synonymous |
SCN1A |
1 |
80798 |
1.23765E-5 |
40399 |
0 |
NA |
2-166900469-C-G
|
p.Gly585Arg |
missense |
SCN1A |
1 |
80762 |
1.23821E-5 |
40381 |
0 |
3.97969E-6 |
2-166900483-C-T
|
p.Arg580Gln |
missense |
SCN1A |
5 |
80710 |
6.19502E-5 |
40355 |
0 |
1.27405E-4 |
2-166900484-G-T
|
p.Arg580Arg |
synonymous |
SCN1A |
1 |
80702 |
1.23913E-5 |
40351 |
0 |
3.98048E-6 |
2-166900503-G-C
|
p.Ser573Arg |
missense |
SCN1A |
1 |
80614 |
1.24048E-5 |
40307 |
0 |
NA |
2-166900512-G-A
|
p.Ser570Ser |
synonymous |
SCN1A |
3 |
80548 |
3.72449E-5 |
40274 |
0 |
5.97248E-5 |
2-166900515-A-G
|
p.Asn569Asn |
synonymous |
SCN1A |
2 |
80528 |
2.48361E-5 |
40264 |
0 |
8.25055E-6 |
2-166900522-C-T
|
p.Arg567Lys |
missense |
SCN1A |
2 |
80416 |
2.48707E-5 |
40208 |
0 |
3.98232E-6 |
2-166900542-A-G
|
p.Arg560Arg |
synonymous |
SCN1A |
5 |
80082 |
6.2436E-5 |
40041 |
0 |
9.55171E-5 |
2-166900544-G-A
|
p.Arg560Cys |
missense |
SCN1A |
1 |
80006 |
1.24991E-5 |
40003 |
0 |
1.19632E-5 |
2-166900554-C-A
|
p.Leu556Phe |
missense |
SCN1A |
2 |
79768 |
2.50727E-5 |
39884 |
0 |
8.39828E-6 |
2-166900558-G-C
|
p.Ser555Cys |
missense+splice_region |
SCN1A |
1 |
79634 |
1.25575E-5 |
39817 |
0 |
NA |
2-166900562-A-G
|
c.1663-3T>C |
splice_region |
SCN1A |
1 |
79510 |
1.2577E-5 |
39755 |
0 |
5.09987E-5 |
2-166901556-GTGTGGGGAGGAGTACCTCTTTTCATA-G
|
p.Tyr545fs |
frameshift |
SCN1A |
1 |
80600 |
1.24069E-5 |
40300 |
0 |
NA |
2-166901588-A-G
|
p.Leu543Leu |
synonymous |
SCN1A |
2 |
80792 |
2.47549E-5 |
40396 |
0 |
NA |
2-166901590-C-T
|
p.Arg542Gln |
missense |
SCN1A |
224 |
80794 |
0.00277248 |
40397 |
1 |
0.00503525 |
2-166901591-G-T
|
p.Arg542Arg |
synonymous |
SCN1A |
5 |
80804 |
6.18781E-5 |
40402 |
0 |
2.54874E-4 |
2-166901611-C-T
|
p.Arg535His |
missense |
SCN1A |
7 |
80918 |
8.65073E-5 |
40459 |
0 |
1.19363E-5 |
2-166901612-G-A
|
p.Arg535Cys |
missense |
SCN1A |
1 |
80926 |
1.2357E-5 |
40463 |
0 |
3.29522E-5 |
2-166901633-T-A
|
p.Ser528Cys |
missense |
SCN1A |
4 |
80962 |
4.94059E-5 |
40481 |
0 |
3.1841E-5 |
2-166901636-C-T
|
p.Asp527Asn |
missense |
SCN1A |
1 |
80966 |
1.23509E-5 |
40483 |
0 |
NA |
2-166901663-C-T
|
p.Asp518Asn |
missense |
SCN1A |
2 |
80976 |
2.46987E-5 |
40488 |
0 |
NA |
2-166901676-T-C
|
p.Glu513Glu |
synonymous |
SCN1A |
6 |
80988 |
7.40851E-5 |
40494 |
0 |
0.001875 |
2-166901683-C-T
|
p.Gly511Asp |
missense |
SCN1A |
1 |
80982 |
1.23484E-5 |
40491 |
0 |
NA |
2-166901688-C-T
|
p.Gln509Gln |
synonymous |
SCN1A |
2 |
80976 |
2.46987E-5 |
40488 |
0 |
1.6475E-5 |
2-166901689-T-A
|
p.Gln509Leu |
missense |
SCN1A |
1 |
80974 |
1.23496E-5 |
40487 |
0 |
NA |
2-166901716-C-T
|
p.Arg500Gln |
missense |
SCN1A |
1 |
80916 |
1.23585E-5 |
40458 |
0 |
1.4829E-4 |
2-166901736-A-T
|
p.Ser493Arg |
missense |
SCN1A |
1 |
80830 |
1.23716E-5 |
40415 |
0 |
3.98245E-6 |
2-166901775-T-G
|
p.Ser480Ser |
synonymous |
SCN1A |
2 |
80558 |
2.48268E-5 |
40279 |
0 |
1.27372E-4 |
2-166901790-T-G
|
p.Ala475Ala |
synonymous |
SCN1A |
3 |
80482 |
3.72754E-5 |
40241 |
0 |
NA |
2-166901794-C-T
|
p.Ser474Asn |
missense |
SCN1A |
2 |
80446 |
2.48614E-5 |
40223 |
0 |
NA |
2-166901804-T-C
|
p.Arg471Gly |
missense |
SCN1A |
1 |
80398 |
1.24381E-5 |
40199 |
0 |
NA |
2-166901805-G-A
|
p.Ser470Ser |
synonymous |
SCN1A |
13 |
80374 |
1.61744E-4 |
40187 |
0 |
0.0020141 |
2-166901810-G-T
|
p.His469Asn |
missense |
SCN1A |
1 |
80348 |
1.24459E-5 |
40174 |
0 |
NA |
2-166901819-C-T
|
p.Ala466Thr |
missense |
SCN1A |
1 |
80286 |
1.24555E-5 |
40143 |
0 |
NA |
2-166901826-C-T
|
p.Thr463Thr |
synonymous |
SCN1A |
2 |
80164 |
2.49489E-5 |
40082 |
0 |
5.04032E-4 |
2-166901830-G-A
|
p.Ala462Val |
missense |
SCN1A |
1 |
80066 |
1.24897E-5 |
40033 |
0 |
NA |
2-166901840-A-G
|
c.1378-3T>C |
splice_region |
SCN1A |
38 |
79884 |
4.7569E-4 |
39942 |
0 |
3.41127E-4 |
2-166901843-T-C
|
c.1378-6A>G |
splice_region |
SCN1A |
1 |
79716 |
1.25445E-5 |
39858 |
0 |
NA |
2-166903291-C-G
|
p.Glu456Gln |
missense |
SCN1A |
1 |
79758 |
1.25379E-5 |
39879 |
0 |
7.97486E-6 |
2-166903297-G-T
|
p.Gln454Lys |
missense |
SCN1A |
2 |
79910 |
2.50282E-5 |
39955 |
0 |
7.97289E-6 |
2-166903300-T-A
|
p.Lys453* |
stop_gained |
SCN1A |
1 |
79988 |
1.25019E-5 |
39994 |
0 |
NA |
2-166903333-C-T
|
p.Ala442Thr |
missense |
SCN1A |
2 |
80538 |
2.4833E-5 |
40269 |
0 |
NA |
2-166903379-G-A
|
p.Tyr426Tyr |
synonymous |
SCN1A |
1 |
80692 |
1.23928E-5 |
40346 |
0 |
2.47296E-5 |
2-166903404-A-T
|
p.Ile418Asn |
missense |
SCN1A |
1 |
80776 |
1.23799E-5 |
40388 |
0 |
NA |
2-166903409-A-G
|
p.Asn416Asn |
synonymous |
SCN1A |
1 |
80784 |
1.23787E-5 |
40392 |
0 |
8.24022E-6 |
2-166903417-G-A
|
p.Leu414Leu |
synonymous |
SCN1A |
2 |
80780 |
2.47586E-5 |
40390 |
0 |
3.98035E-6 |
2-166903437-A-G
|
p.Ile407Thr |
missense |
SCN1A |
1 |
80786 |
1.23784E-5 |
40393 |
0 |
3.1839E-5 |
2-166903445-T-C
|
p.Val404Val |
synonymous |
SCN1A |
52048 |
80002 |
0.650584 |
40001 |
17062 |
0.707805 |
2-166903447-C-CA
|
p.Val404fs |
frameshift |
SCN1A |
1 |
80748 |
1.23842E-5 |
40374 |
0 |
NA |
2-166903456-T-C
|
p.Ile401Val |
missense |
SCN1A |
3 |
80698 |
3.71756E-5 |
40349 |
0 |
NA |
2-166903458-A-G
|
p.Met400Thr |
missense |
SCN1A |
2 |
80686 |
2.47874E-5 |
40343 |
0 |
NA |
2-166903463-C-T
|
p.Thr398Thr |
synonymous |
SCN1A |
3 |
80622 |
3.72107E-5 |
40311 |
0 |
6.36943E-5 |
2-166903473-G-C
|
p.Ala395Gly |
missense |
SCN1A |
1 |
80582 |
1.24097E-5 |
40291 |
0 |
NA |
2-166903479-C-T
|
p.Arg393His |
missense |
SCN1A |
2 |
80520 |
2.48385E-5 |
40260 |
0 |
NA |
2-166903480-G-A
|
p.Arg393Cys |
missense |
SCN1A |
2 |
80506 |
2.48429E-5 |
40253 |
0 |
NA |
2-166903484-T-C
|
p.Thr391Thr |
splice_region+synonymous |
SCN1A |
3 |
80478 |
3.72773E-5 |
40239 |
0 |
3.18837E-5 |
2-166904134-C-T
|
c.1170+3G>A |
splice_region |
SCN1A |
1 |
80662 |
1.23974E-5 |
40331 |
0 |
NA |
2-166904140-T-C
|
p.Gln389Gln |
synonymous |
SCN1A |
2 |
80668 |
2.4793E-5 |
40334 |
0 |
3.18451E-5 |
2-166904176-T-G
|
p.Arg377Arg |
synonymous |
SCN1A |
154 |
80604 |
0.00191058 |
40302 |
0 |
0.00321718 |
2-166904184-A-G
|
p.Leu375Leu |
synonymous |
SCN1A |
1 |
80608 |
1.24057E-5 |
40304 |
0 |
NA |
2-166904200-A-G
|
p.Ser369Ser |
synonymous |
SCN1A |
1 |
80630 |
1.24023E-5 |
40315 |
0 |
8.24239E-6 |
2-166904216-C-T
|
p.Ser364Asn |
missense |
SCN1A |
1 |
80694 |
1.23925E-5 |
40347 |
0 |
6.76757E-4 |
2-166904216-C-G
|
p.Ser364Thr |
missense |
SCN1A |
3 |
80694 |
3.71775E-5 |
40347 |
0 |
NA |
2-166904242-A-G
|
p.Gly355Gly |
synonymous |
SCN1A |
2 |
80732 |
2.47733E-5 |
40366 |
0 |
1.99041E-5 |
2-166904249-T-G
|
p.Lys353Thr |
missense |
SCN1A |
1 |
80754 |
1.23833E-5 |
40377 |
0 |
NA |
2-166904258-A-G
|
p.Met350Thr |
missense |
SCN1A |
2 |
80736 |
2.47721E-5 |
40368 |
0 |
7.96102E-6 |
2-166904267-T-C
|
p.Glu347Gly |
missense |
SCN1A |
2 |
80702 |
2.47825E-5 |
40351 |
0 |
NA |
2-166905390-A-G
|
c.1028+6T>C |
splice_region |
SCN1A |
1 |
79492 |
1.25799E-5 |
39746 |
0 |
3.9976E-6 |
2-166905397-C-T
|
p.Gly343Ser |
missense+splice_region |
SCN1A |
2 |
79618 |
2.51199E-5 |
39809 |
0 |
NA |
2-166905416-A-G
|
p.Cys336Cys |
synonymous |
SCN1A |
1 |
79802 |
1.2531E-5 |
39901 |
0 |
NA |
2-166905419-T-C
|
p.Leu335Leu |
synonymous |
SCN1A |
2 |
79772 |
2.50715E-5 |
39886 |
0 |
8.30592E-6 |
2-166905424-G-C
|
p.Leu334Val |
missense |
SCN1A |
63 |
79806 |
7.89414E-4 |
39903 |
0 |
3.39481E-4 |
2-166905440-C-T
|
p.Glu328Glu |
synonymous |
SCN1A |
2 |
79862 |
2.50432E-5 |
39931 |
0 |
NA |
2-166905441-T-A
|
p.Glu328Val |
missense |
SCN1A |
4 |
79858 |
5.00889E-5 |
39929 |
0 |
3.18939E-5 |
2-166905466-G-T
|
c.965-7C>A |
splice_region |
SCN1A |
1 |
79738 |
1.25411E-5 |
39869 |
0 |
NA |
2-166908233-A-G
|
p.Asp320Asp |
synonymous |
SCN1A |
1 |
79772 |
1.25357E-5 |
39886 |
0 |
NA |
2-166908240-A-T
|
p.Ile318Asn |
missense |
SCN1A |
1 |
79864 |
1.25213E-5 |
39932 |
0 |
NA |
2-166908253-A-G
|
p.Trp314Arg |
missense |
SCN1A |
1 |
79952 |
1.25075E-5 |
39976 |
0 |
NA |
2-166908254-G-A
|
p.Asp313Asp |
synonymous |
SCN1A |
1 |
79938 |
1.25097E-5 |
39969 |
0 |
NA |
2-166908274-C-T
|
p.Glu307Lys |
missense |
SCN1A |
1 |
80030 |
1.24953E-5 |
40015 |
0 |
3.18492E-5 |
2-166908279-A-G
|
p.Ile305Thr |
missense |
SCN1A |
2 |
80068 |
2.49788E-5 |
40034 |
0 |
8.58236E-6 |
2-166908298-T-C
|
p.Asn299Asp |
missense |
SCN1A |
1 |
80232 |
1.24639E-5 |
40116 |
0 |
3.99795E-6 |
2-166908303-G-A
|
p.Thr297Ile |
missense |
SCN1A |
6 |
80230 |
7.4785E-5 |
40115 |
0 |
1.67639E-5 |
2-166908307-T-C
|
p.Ile296Val |
missense |
SCN1A |
1 |
80250 |
1.24611E-5 |
40125 |
0 |
1.67328E-5 |
2-166908313-T-C
|
p.Lys294Glu |
missense |
SCN1A |
1 |
80268 |
1.24583E-5 |
40134 |
0 |
NA |
2-166908320-A-G
|
p.Ser291Ser |
synonymous |
SCN1A |
1 |
80358 |
1.24443E-5 |
40179 |
0 |
3.18532E-5 |
2-166908323-A-G
|
p.His290His |
synonymous |
SCN1A |
4 |
80360 |
4.9776E-5 |
40180 |
0 |
3.18492E-5 |
2-166908326-T-C
|
p.Glu289Glu |
synonymous |
SCN1A |
1 |
80392 |
1.2439E-5 |
40196 |
0 |
NA |
2-166908332-C-T
|
p.Leu287Leu |
synonymous |
SCN1A |
2 |
80390 |
2.48787E-5 |
40195 |
0 |
5.80691E-5 |
2-166908334-A-C
|
p.Leu287Val |
missense |
SCN1A |
1 |
80414 |
1.24356E-5 |
40207 |
0 |
8.29105E-6 |
2-166908351-G-A
|
p.Pro281Leu |
missense |
SCN1A |
3 |
80432 |
3.72986E-5 |
40216 |
0 |
NA |
2-166908377-G-A
|
p.Asn272Asn |
synonymous |
SCN1A |
1 |
80478 |
1.24258E-5 |
40239 |
0 |
NA |
2-166908398-C-A
|
p.Gly265Gly |
synonymous |
SCN1A |
1 |
80372 |
1.24421E-5 |
40186 |
0 |
3.98944E-6 |
2-166908402-A-G
|
p.Ile264Thr |
missense |
SCN1A |
5 |
80368 |
6.22138E-5 |
40184 |
0 |
5.03525E-4 |
2-166908415-C-T
|
p.Val260Ile |
missense |
SCN1A |
1 |
80328 |
1.2449E-5 |
40164 |
0 |
4.13394E-5 |
2-166908417-C-T
|
p.Ser259Asn |
missense |
SCN1A |
1 |
80298 |
1.24536E-5 |
40149 |
0 |
NA |
2-166908431-A-G
|
p.Thr254Thr |
synonymous |
SCN1A |
1 |
80232 |
1.24639E-5 |
40116 |
0 |
3.99313E-6 |
2-166908437-G-A
|
p.Ile252Ile |
synonymous |
SCN1A |
2 |
80198 |
2.49383E-5 |
40099 |
0 |
NA |
2-166908446-A-G
|
p.Asp249Asp |
synonymous |
SCN1A |
3 |
80212 |
3.74009E-5 |
40106 |
0 |
8.26966E-6 |
2-166908459-T-C
|
p.Lys245Arg |
missense |
SCN1A |
1 |
80160 |
1.2475E-5 |
40080 |
0 |
1.99736E-5 |
2-166908473-C-G
|
p.Leu240Leu |
synonymous |
SCN1A |
3 |
80106 |
3.74504E-5 |
40053 |
0 |
7.45218E-5 |
2-166908476-G-C
|
p.Ala239Ala |
synonymous |
SCN1A |
2 |
80068 |
2.49788E-5 |
40034 |
0 |
3.18654E-5 |
2-166908484-C-T
|
p.Val237Met |
missense |
SCN1A |
1 |
80006 |
1.24991E-5 |
40003 |
0 |
NA |
2-166908500-T-TGAAAGAAA
|
c.695-3_695-2insTTTCTTTC |
splice_region |
SCN1A |
1 |
79898 |
1.2516E-5 |
39949 |
0 |
NA |
2-166909362-C-T
|
p.Gly232Ser |
missense+splice_region |
SCN1A |
1 |
80602 |
1.24066E-5 |
40301 |
0 |
NA |
2-166909381-C-T
|
p.Lys225Lys |
synonymous |
SCN1A |
1 |
80714 |
1.23894E-5 |
40357 |
0 |
NA |
2-166909386-A-G
|
p.Leu224Leu |
synonymous |
SCN1A |
1 |
80754 |
1.23833E-5 |
40377 |
0 |
0.0010101 |
2-166909394-A-G
|
p.Leu221Pro |
missense |
SCN1A |
2 |
80800 |
2.47525E-5 |
40400 |
0 |
NA |
2-166909413-A-G
|
p.Leu215Leu |
synonymous |
SCN1A |
3 |
80868 |
3.70975E-5 |
40434 |
1 |
3.18837E-5 |
2-166909417-C-T
|
p.Ser213Ser |
synonymous |
SCN1A |
2 |
80860 |
2.47341E-5 |
40430 |
0 |
2.55846E-5 |
2-166909424-T-C
|
p.Asn211Ser |
missense |
SCN1A |
1 |
80860 |
1.23671E-5 |
40430 |
0 |
NA |
2-166909450-G-A
|
p.Tyr202Tyr |
synonymous |
SCN1A |
3 |
80828 |
3.71158E-5 |
40414 |
0 |
3.44768E-5 |
2-166909456-G-A
|
c.603-3C>T |
splice_region |
SCN1A |
1 |
80822 |
1.23729E-5 |
40411 |
0 |
8.67137E-6 |
2-166911140-G-GCA
|
c.602+7_602+8insTG |
splice_region |
SCN1A |
19 |
80810 |
2.35119E-4 |
40405 |
1 |
0.00139672 |
2-166911142-A-G
|
c.602+6T>C |
splice_region |
SCN1A |
2 |
80822 |
2.47457E-5 |
40411 |
0 |
NA |
2-166911147-C-T
|
c.602+1G>A |
splice_donor |
SCN1A |
4 |
80794 |
4.95086E-5 |
40397 |
0 |
NA |
2-166911153-T-C
|
p.Thr199Thr |
synonymous |
SCN1A |
1 |
80804 |
1.23756E-5 |
40402 |
0 |
9.57465E-5 |
2-166911156-A-G
|
p.Ile198Ile |
synonymous |
SCN1A |
1 |
80802 |
1.23759E-5 |
40401 |
0 |
NA |
2-166911171-G-A
|
p.Leu193Leu |
synonymous |
SCN1A |
7 |
80762 |
8.66744E-5 |
40381 |
0 |
7.47881E-5 |
2-166911182-A-G
|
p.Trp190Arg |
missense |
SCN1A |
1 |
80758 |
1.23827E-5 |
40379 |
0 |
NA |
2-166911191-G-A
|
p.Arg187Trp |
missense |
SCN1A |
1 |
80744 |
1.23848E-5 |
40372 |
0 |
3.99125E-6 |
2-166911192-A-G
|
p.Leu186Leu |
synonymous |
SCN1A |
2 |
80744 |
2.47696E-5 |
40372 |
0 |
1.16688E-4 |
2-166911198-A-G
|
p.Thr184Thr |
synonymous |
SCN1A |
1 |
80744 |
1.23848E-5 |
40372 |
0 |
7.98148E-6 |
2-166911222-C-T
|
p.Arg176Arg |
synonymous |
SCN1A |
1 |
80706 |
1.23907E-5 |
40353 |
0 |
3.99795E-6 |
2-166911238-A-G
|
p.Ile171Thr |
missense |
SCN1A |
1 |
80576 |
1.24106E-5 |
40288 |
0 |
NA |
2-166911239-T-C
|
p.Ile171Val |
missense |
SCN1A |
2 |
80570 |
2.48231E-5 |
40285 |
0 |
8.52806E-6 |
2-166911241-A-G
|
p.Leu170Pro |
missense |
SCN1A |
1 |
80556 |
1.24137E-5 |
40278 |
0 |
NA |
2-166911250-A-G
|
p.Phe167Ser |
missense |
SCN1A |
1 |
80442 |
1.24313E-5 |
40221 |
0 |
NA |
2-166911262-C-CAAA
|
p.Gly163delinsValTer |
stop_gained |
SCN1A |
1 |
80216 |
1.24663E-5 |
40108 |
0 |
NA |
2-166911265-G-C
|
p.Thr162Arg |
missense |
SCN1A |
1 |
80150 |
1.24766E-5 |
40075 |
0 |
NA |
2-166912965-C-T
|
p.Val143Val |
synonymous |
SCN1A |
1 |
80284 |
1.24558E-5 |
40142 |
0 |
5.03525E-4 |
2-166912971-G-C
|
p.Asn141Lys |
missense |
SCN1A |
1 |
80268 |
1.24583E-5 |
40134 |
0 |
NA |
2-166912981-A-C
|
p.Ile138Ser |
missense |
SCN1A |
1 |
80280 |
1.24564E-5 |
40140 |
0 |
NA |
2-166912989-C-T
|
p.Met135Ile |
missense |
SCN1A |
2 |
80204 |
2.49364E-5 |
40102 |
0 |
NA |
2-166913013-A-G
|
c.384-3T>C |
splice_region |
SCN1A |
2 |
79840 |
2.50501E-5 |
39920 |
0 |
7.98665E-6 |
2-166915084-G-C
|
p.His127Asp |
missense |
SCN1A |
13 |
80430 |
1.61631E-4 |
40215 |
0 |
9.5706E-5 |
2-166915085-T-C
|
p.Val126Val |
synonymous |
SCN1A |
1 |
80430 |
1.24332E-5 |
40215 |
0 |
NA |
2-166915118-A-G
|
p.Asn115Asn |
synonymous |
SCN1A |
992 |
80590 |
0.0123092 |
40295 |
31 |
0.0269348 |
2-166915130-T-C
|
p.Leu111Leu |
synonymous |
SCN1A |
15 |
80654 |
1.8598E-4 |
40327 |
0 |
1.47403E-4 |
2-166915142-G-A
|
p.Ala107Ala |
synonymous |
SCN1A |
1 |
80626 |
1.24029E-5 |
40313 |
0 |
NA |
2-166915145-A-G
|
p.Ser106Ser |
synonymous |
SCN1A |
1 |
80632 |
1.2402E-5 |
40316 |
0 |
NA |
2-166915149-G-T
|
p.Thr105Asn |
missense |
SCN1A |
1 |
80636 |
1.24014E-5 |
40318 |
0 |
3.98349E-6 |
2-166915160-C-T
|
p.Arg101Arg |
synonymous |
SCN1A |
1 |
80632 |
1.2402E-5 |
40316 |
0 |
NA |
2-166915170-G-A
|
p.Ala98Val |
missense |
SCN1A |
3 |
80614 |
3.72144E-5 |
40307 |
0 |
NA |
2-166915193-A-G
|
p.Phe90Phe |
synonymous |
SCN1A |
1 |
80528 |
1.2418E-5 |
40264 |
0 |
4.78061E-5 |
2-166929865-C-T
|
c.264+3G>A |
splice_region |
SCN1A |
1 |
80558 |
1.24134E-5 |
40279 |
0 |
8.24212E-6 |
2-166929895-G-A
|
p.Asp79Asp |
synonymous |
SCN1A |
1 |
80952 |
1.2353E-5 |
40476 |
0 |
5.03525E-4 |
2-166929898-C-T
|
p.Glu78Glu |
synonymous |
SCN1A |
1 |
80962 |
1.23515E-5 |
40481 |
0 |
7.95577E-6 |
2-166929904-G-C
|
p.Pro76Pro |
synonymous |
SCN1A |
5 |
80962 |
6.17574E-5 |
40481 |
0 |
7.9552E-6 |
2-166929915-C-G
|
p.Val73Leu |
missense |
SCN1A |
2 |
80998 |
2.4692E-5 |
40499 |
0 |
NA |
2-166929920-T-C
|
p.Glu71Gly |
missense |
SCN1A |
1 |
81006 |
1.23448E-5 |
40503 |
0 |
NA |
2-166929929-A-G
|
p.Ile68Thr |
missense |
SCN1A |
1 |
81014 |
1.23435E-5 |
40507 |
0 |
1.64734E-5 |
2-166929945-A-G
|
p.Phe63Leu |
missense |
SCN1A |
1 |
81044 |
1.2339E-5 |
40522 |
0 |
NA |
2-166929947-G-A
|
p.Pro62Leu |
missense |
SCN1A |
2 |
81042 |
2.46786E-5 |
40521 |
0 |
NA |
2-166929970-G-A
|
p.Asp54Asp |
synonymous |
SCN1A |
1 |
81046 |
1.23387E-5 |
40523 |
0 |
NA |
2-166929988-G-A
|
p.Gly48Gly |
synonymous |
SCN1A |
4 |
81046 |
4.93547E-5 |
40523 |
0 |
0.00151057 |
2-166929996-C-T
|
p.Glu46Lys |
missense |
SCN1A |
1 |
81048 |
1.23384E-5 |
40524 |
0 |
0.00125 |
2-166929997-G-A
|
p.Asp45Asp |
synonymous |
SCN1A |
2 |
81048 |
2.46767E-5 |
40524 |
0 |
4.11834E-5 |
2-166929999-C-T
|
p.Asp45Asn |
missense |
SCN1A |
1 |
81048 |
1.23384E-5 |
40524 |
0 |
8.23655E-6 |
2-166930000-G-A
|
p.Asp44Asp |
synonymous |
SCN1A |
1 |
81048 |
1.23384E-5 |
40524 |
0 |
9.06021E-5 |
2-166930011-T-C
|
p.Lys41Glu |
missense |
SCN1A |
1 |
81048 |
1.23384E-5 |
40524 |
0 |
8.23655E-6 |
2-166930026-T-C
|
p.Asn36Asp |
missense |
SCN1A |
1 |
81044 |
1.2339E-5 |
40522 |
0 |
NA |
2-166930030-T-C
|
p.Ala34Ala |
synonymous |
SCN1A |
3 |
81044 |
3.70169E-5 |
40522 |
0 |
8.23655E-6 |
2-166930035-T-C
|
p.Lys33Glu |
missense |
SCN1A |
1 |
81048 |
1.23384E-5 |
40524 |
0 |
7.9552E-6 |
2-166930045-A-C
|
p.Ile29Met |
missense |
SCN1A |
2 |
81042 |
2.46786E-5 |
40521 |
0 |
NA |
2-166930045-A-G
|
p.Ile29Ile |
synonymous |
SCN1A |
1 |
81042 |
1.23393E-5 |
40521 |
0 |
3.18532E-5 |
2-166930049-C-T
|
p.Arg28His |
missense |
SCN1A |
1 |
81044 |
1.2339E-5 |
40522 |
0 |
8.23696E-6 |
2-166930050-G-A
|
p.Arg28Cys |
missense |
SCN1A |
1 |
81040 |
1.23396E-5 |
40520 |
0 |
3.58069E-5 |
2-166930052-C-G
|
p.Arg27Thr |
missense |
SCN1A |
16 |
81038 |
1.97438E-4 |
40519 |
0 |
1.15317E-4 |
2-166930063-C-T
|
p.Ala23Ala |
synonymous |
SCN1A |
1 |
81026 |
1.23417E-5 |
40513 |
0 |
1.59256E-4 |
2-166930064-G-A
|
p.Ala23Val |
missense |
SCN1A |
56 |
81028 |
6.91119E-4 |
40514 |
0 |
0.0011465 |
2-166930064-G-T
|
p.Ala23Glu |
missense |
SCN1A |
4 |
81030 |
4.93644E-5 |
40515 |
0 |
8.23723E-6 |
2-166930090-G-A
|
p.Phe14Phe |
synonymous |
SCN1A |
1 |
81016 |
1.23432E-5 |
40508 |
0 |
NA |
2-166930094-C-A
|
p.Ser13Ile |
missense |
SCN1A |
2 |
81020 |
2.46853E-5 |
40510 |
0 |
NA |
2-166930100-G-T
|
p.Pro11His |
missense |
SCN1A |
1 |
81004 |
1.23451E-5 |
40502 |
0 |
7.95551E-6 |
2-166930107-G-C
|
p.Pro9Ala |
missense |
SCN1A |
1 |
80998 |
1.2346E-5 |
40499 |
0 |
7.9557E-6 |