Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-166847761-C-T p.Gly2008Gly synonymous SCN1A 3 82912 3.61829E-5 41456 0 3.08439E-5
2-166847766-T-C p.Lys2007Glu missense SCN1A 1 82934 1.20578E-5 41467 0 4.01146E-6
2-166847771-T-TTTTCA p.Lys2005fs frameshift SCN1A 1 82986 1.20502E-5 41493 0 NA
2-166847790-G-A p.Gln1999* stop_gained SCN1A 1 83040 1.20424E-5 41520 0 7.98416E-6
2-166847797-T-G p.Lys1996Asn missense SCN1A 4 83082 4.81452E-5 41541 0 1.19655E-5
2-166847802-C-G p.Glu1995Gln missense SCN1A 1 83104 1.20331E-5 41552 0 3.98877E-6
2-166847807-A-G p.Ile1993Thr missense SCN1A 1 83132 1.20291E-5 41566 0 3.18837E-5
2-166847822-C-T p.Arg1988Gln missense SCN1A 1 83160 1.2025E-5 41580 0 5.03525E-4
2-166847823-G-A p.Arg1988Trp missense SCN1A 1 83162 1.20247E-5 41581 0 8.27801E-6
2-166847834-G-T p.Pro1984His missense SCN1A 13 83170 1.56306E-4 41585 0 6.69216E-4
2-166847843-G-T p.Ala1981Asp missense SCN1A 1 83160 1.2025E-5 41580 0 6.3743E-5
2-166847874-C-T p.Glu1971Lys missense SCN1A 1 83100 1.20337E-5 41550 0 NA
2-166847897-C-G p.Arg1963Thr missense SCN1A 1 82968 1.20528E-5 41484 0 3.98851E-6
2-166847908-C-A p.Met1959Ile missense SCN1A 3 82916 3.61812E-5 41458 0 3.30682E-5
2-166847915-T-C p.Glu1957Gly missense SCN1A 22 82872 2.6547E-4 41436 0 1.39585E-4
2-166847921-A-G p.Ile1955Thr missense SCN1A 279 82826 0.00336851 41413 4 0.00812775
2-166847922-T-C p.Ile1955Val missense SCN1A 1 82824 1.20738E-5 41412 0 8.2661E-6
2-166847927-A-G p.Leu1953Pro missense SCN1A 2 82790 2.41575E-5 41395 0 3.9887E-6
2-166847934-C-A p.Ala1951Ser missense SCN1A 2 82700 2.41838E-5 41350 0 3.18735E-5
2-166847937-C-T p.Gly1950Arg missense SCN1A 1 82694 1.20928E-5 41347 0 NA
2-166847961-A-C p.Tyr1942Asp missense SCN1A 1 82404 1.21353E-5 41202 0 3.99103E-6
2-166847962-C-T p.Thr1941Thr synonymous SCN1A 2 82374 2.42795E-5 41187 0 1.19743E-5
2-166847963-G-A p.Thr1941Met missense SCN1A 5 82360 6.07091E-5 41180 0 2.47754E-5
2-166847972-G-A p.Ala1938Val missense SCN1A 2 82294 2.43031E-5 41147 0 7.98059E-6
2-166847976-G-C p.Gln1937Glu missense SCN1A 2 82290 2.43043E-5 41145 0 NA
2-166847979-T-C p.Lys1936Glu missense SCN1A 2 82292 2.43037E-5 41146 0 NA
2-166847984-G-A p.Thr1934Ile missense SCN1A 1 82248 1.21584E-5 41124 0 3.18634E-5
2-166848003-G-C p.Arg1928Gly missense SCN1A 122 82250 0.00148328 41125 0 0.00142728
2-166848003-G-A p.Arg1928Cys missense SCN1A 10 82250 1.21581E-4 41125 0 2.47504E-5
2-166848006-T-C p.Arg1927Gly missense SCN1A 1 82288 1.21524E-5 41144 0 NA
2-166848008-T-C p.Tyr1926Cys missense SCN1A 2 82280 2.43072E-5 41140 0 8.2496E-6
2-166848019-A-G p.Ile1922Ile synonymous SCN1A 2 82340 2.42895E-5 41170 0 1.99397E-5
2-166848022-A-G p.Ile1921Ile synonymous SCN1A 2 82352 2.4286E-5 41176 0 3.18552E-5
2-166848034-T-C p.Val1917Val synonymous SCN1A 1 82418 1.21333E-5 41209 0 3.98715E-6
2-166848046-T-C p.Lys1913Lys synonymous SCN1A 3 82486 3.63698E-5 41243 0 1.64908E-4
2-166848050-C-T p.Arg1912Gln missense SCN1A 2 82496 2.42436E-5 41248 0 7.97302E-6
2-166848057-AAGT-A p.Thr1909del conservative_inframe_deletion SCN1A 1 82492 1.21224E-5 41246 0 NA
2-166848084-C-T p.Val1901Ile missense SCN1A 1 82434 1.21309E-5 41217 0 NA
2-166848086-T-C p.Lys1900Arg missense SCN1A 1 82444 1.21294E-5 41222 0 3.98769E-6
2-166848097-G-A p.Ser1896Ser synonymous SCN1A 1 82326 1.21468E-5 41163 0 NA
2-166848104-A-G p.Met1894Thr missense SCN1A 3 82246 3.64759E-5 41123 0 6.25E-4
2-166848107-A-G p.Phe1893Ser missense SCN1A 1 82192 1.21666E-5 41096 0 NA
2-166848126-T-C p.Ile1887Val missense SCN1A 1 82052 1.21874E-5 41026 0 NA
2-166848129-G-A p.Arg1886* stop_gained SCN1A 1 82030 1.21907E-5 41015 0 NA
2-166848134-G-A p.Ala1884Val missense SCN1A 4 81976 4.87948E-5 40988 0 7.98263E-6
2-166848146-C-T p.Gly1880Glu missense SCN1A 5 81844 6.10918E-5 40922 0 1.59337E-4
2-166848151-C-T p.Glu1878Glu synonymous SCN1A 1 81834 1.22199E-5 40917 0 8.24457E-6
2-166848151-C-G p.Glu1878Asp missense SCN1A 3 81834 3.66596E-5 40917 0 7.9839E-6
2-166848151-CTC-ATT p.Glu1878Asn missense SCN1A 1 81834 1.22199E-5 40917 0 NA
2-166848153-C-G p.Glu1878Gln missense SCN1A 2 81800 2.44499E-5 40900 0 1.64886E-5
2-166848203-C-T p.Arg1861Gln missense SCN1A 1 81314 1.2298E-5 40657 0 3.9894E-6
2-166848212-C-T p.Ser1858Asn missense SCN1A 2 81372 2.45785E-5 40686 0 NA
2-166848212-C-G p.Ser1858Thr missense SCN1A 1 81372 1.22892E-5 40686 0 NA
2-166848214-C-T p.Val1857Val synonymous SCN1A 9 81424 1.10533E-4 40712 0 0.00172051
2-166848217-C-T p.Met1856Ile missense SCN1A 12 81480 1.47275E-4 40740 0 4.14171E-4
2-166848222-G-A p.Pro1855Ser missense SCN1A 1 81586 1.2257E-5 40793 0 3.98848E-6
2-166848223-C-A p.Leu1854Phe missense SCN1A 1 81616 1.22525E-5 40808 0 8.24226E-6
2-166848238-G-C p.Leu1849Leu synonymous SCN1A 5 82150 6.08643E-5 41075 0 6.37308E-5
2-166848241-C-T p.Gln1848Gln synonymous SCN1A 1 82198 1.21657E-5 41099 0 NA
2-166848249-T-C p.Lys1846Glu missense SCN1A 1 82304 1.21501E-5 41152 0 8.24117E-6
2-166848283-C-T p.Ala1834Ala synonymous SCN1A 2 82512 2.42389E-5 41256 0 8.24158E-6
2-166848296-T-G p.Gln1830Pro missense SCN1A 1 82716 1.20896E-5 41358 0 3.18837E-5
2-166848296-T-A p.Gln1830Leu missense SCN1A 1 82716 1.20896E-5 41358 0 NA
2-166848315-C-G p.Glu1824Gln missense SCN1A 1 82936 1.20575E-5 41468 0 NA
2-166848318-T-A p.Met1823Leu missense SCN1A 1 82984 1.20505E-5 41492 0 NA
2-166848334-G-A p.Pro1817Pro synonymous SCN1A 1 83070 1.2038E-5 41535 0 8.24117E-6
2-166848343-C-T p.Lys1814Lys synonymous SCN1A 1 83108 1.20325E-5 41554 0 3.18898E-5
2-166848343-C-G p.Lys1814Asn missense SCN1A 1 83108 1.20325E-5 41554 0 3.98032E-6
2-166848351-A-C p.Trp1812Gly missense SCN1A 1 83130 1.20294E-5 41565 0 NA
2-166848352-A-G p.Val1811Val synonymous SCN1A 2 83128 2.40593E-5 41564 0 8.24144E-6
2-166848355-C-T p.Glu1810Glu synonymous SCN1A 2 83128 2.40593E-5 41564 0 1.64837E-5
2-166848363-A-G p.Phe1808Leu missense SCN1A 1 83124 1.20302E-5 41562 0 NA
2-166848364-C-T p.Met1807Ile missense SCN1A 1 83122 1.20305E-5 41561 0 NA
2-166848367-C-T p.Glu1806Glu synonymous SCN1A 1460 83056 0.0175785 41528 23 0.0398185
2-166848402-C-G p.Glu1795Gln missense SCN1A 1 83008 1.2047E-5 41504 0 NA
2-166848436-C-T p.Ala1783Ala synonymous SCN1A 1 82938 1.20572E-5 41469 0 4.12174E-5
2-166848439-G-A p.Ile1782Ile synonymous SCN1A 2 82972 2.41045E-5 41486 0 2.78731E-5
2-166848451-C-T p.Val1778Val synonymous SCN1A 1 83038 1.20427E-5 41519 0 NA
2-166848464-A-G p.Phe1774Ser missense SCN1A 1 83096 1.20343E-5 41548 0 NA
2-166848499-T-C p.Gly1762Gly synonymous SCN1A 70 83212 8.41225E-4 41606 0 0.00105708
2-166848508-T-G p.Pro1759Pro synonymous SCN1A 2 83222 2.40321E-5 41611 0 NA
2-166848542-GGGT-G p.Asn1747_Pro1748delinsThr disruptive_inframe_deletion SCN1A 1 83230 1.20149E-5 41615 0 NA
2-166848547-A-G p.Val1746Val synonymous SCN1A 1 83220 1.20163E-5 41610 0 NA
2-166848561-C-T p.Asp1742Asn missense SCN1A 1 83200 1.20192E-5 41600 0 1.19399E-5
2-166848563-C-G p.Cys1741Ser missense SCN1A 2 83204 2.40373E-5 41602 0 NA
2-166848567-C-T p.Asp1740Asn missense SCN1A 3 83188 3.60629E-5 41594 0 NA
2-166848568-G-A p.Pro1739Pro synonymous SCN1A 9 83200 1.08173E-4 41600 0 3.9801E-5
2-166848583-G-A p.Leu1734Leu synonymous SCN1A 1 83204 1.20187E-5 41602 0 3.98026E-6
2-166848591-G-T p.Pro1732Thr missense SCN1A 1 83186 1.20213E-5 41593 0 NA
2-166848634-T-C p.Leu1717Leu synonymous SCN1A 2 83242 2.40263E-5 41621 0 3.18776E-5
2-166848640-G-C p.Ile1715Met missense SCN1A 1 83236 1.2014E-5 41618 0 NA
2-166848643-C-A p.Met1714Ile missense SCN1A 1 83228 1.20152E-5 41614 0 3.97959E-6
2-166848681-C-T p.Asp1702Asn missense SCN1A 1 83236 1.2014E-5 41618 0 1.19372E-5
2-166848722-C-G p.Gly1688Ala missense SCN1A 2 83330 2.4001E-5 41665 0 NA
2-166848732-C-A p.Ala1685Ser missense SCN1A 2 83326 2.40021E-5 41663 0 8.24103E-6
2-166848733-G-A p.Tyr1684Tyr synonymous SCN1A 1 83332 1.20002E-5 41666 0 6.37308E-5
2-166848739-GA-G p.Phe1682fs frameshift SCN1A 1 83350 1.19976E-5 41675 0 NA
2-166848746-A-T p.Val1680Asp missense SCN1A 1 83352 1.19973E-5 41676 0 NA
2-166848767-A-G p.Ile1673Thr missense SCN1A 1 83352 1.19973E-5 41676 0 NA
2-166848785-A-G p.Leu1667Pro missense SCN1A 1 83342 1.19988E-5 41671 0 NA
2-166848811-C-T p.Thr1658Thr synonymous SCN1A 1 83330 1.20005E-5 41665 0 NA
2-166848815-C-T p.Arg1657His missense SCN1A 1 83322 1.20016E-5 41661 0 NA
2-166848840-G-A p.Leu1649Leu synonymous SCN1A 69 83306 8.28272E-4 41653 1 0.005625
2-166848842-C-T p.Arg1648His missense SCN1A 1 83322 1.20016E-5 41661 0 3.97842E-6
2-166848844-T-C p.Leu1647Leu synonymous SCN1A 1 83322 1.20016E-5 41661 0 1.64859E-5
2-166848847-G-A p.Ile1646Ile synonymous SCN1A 1 83324 1.20013E-5 41662 0 2.47268E-5
2-166848879-G-T p.Arg1636Arg synonymous SCN1A 2 83288 2.40131E-5 41644 0 2.233E-4
2-166848879-G-A p.Arg1636* stop_gained SCN1A 1 83288 1.20065E-5 41644 0 NA
2-166848880-G-A p.Phe1635Phe synonymous SCN1A 7 83280 8.40538E-5 41640 0 1.31883E-4
2-166848898-G-A p.Phe1629Phe synonymous SCN1A 15 83206 1.80275E-4 41603 0 5.04032E-4
2-166848913-C-T p.Leu1624Leu synonymous SCN1A 60 83094 7.22074E-4 41547 0 5.03525E-4
2-166848930-T-C p.Met1619Val missense+splice_region SCN1A 12 82708 1.45089E-4 41354 2 0.00252016
2-166848937-G-GTT c.4853-6_4853-5insAA splice_region SCN1A 2 82452 2.42565E-5 41226 0 3.99131E-6
2-166848938-A-G c.4853-6T>C splice_region SCN1A 2 82342 2.42889E-5 41171 0 NA
2-166848939-A-AGAGGGAAG c.4853-8_4853-7insCTTCCCTC splice_region SCN1A 1 82316 1.21483E-5 41158 0 NA
2-166850660-A-G p.Ile1616Ile synonymous SCN1A 4 82194 4.86654E-5 41097 2 6.25E-4
2-166850674-C-T p.Val1612Ile missense SCN1A 2 82424 2.42648E-5 41212 0 2.1023E-4
2-166850704-T-C p.Ile1602Val missense SCN1A 1 82676 1.20954E-5 41338 0 NA
2-166850715-T-A p.Tyr1598Phe missense SCN1A 4 82682 4.83781E-5 41341 0 8.68734E-6
2-166850717-A-G p.His1597His synonymous SCN1A 1 82696 1.20925E-5 41348 0 9.5584E-5
2-166850765-A-G p.Ile1581Ile synonymous SCN1A 1 82640 1.21007E-5 41320 0 3.18695E-5
2-166850766-A-G p.Ile1581Thr missense SCN1A 1 82634 1.21016E-5 41317 0 NA
2-166850777-A-G p.Asn1577Asn synonymous SCN1A 82 82602 9.92712E-4 41301 0 0.00136127
2-166850785-G-A p.Arg1575Cys missense SCN1A 6 82578 7.26586E-5 41289 0 7.46752E-5
2-166850838-G-A p.Thr1557Ile missense SCN1A 1 82418 1.21333E-5 41209 0 NA
2-166850840-G-T p.Val1556Val synonymous SCN1A 4 82410 4.85378E-5 41205 0 1.99668E-5
2-166850860-G-A p.Leu1550Phe missense SCN1A 4 82284 4.86121E-5 41142 0 NA
2-166850897-G-A p.Phe1537Phe synonymous SCN1A 1 81772 1.22291E-5 40886 0 8.30068E-6
2-166850925-T-C p.Asn1528Ser missense+splice_region SCN1A 1 81082 1.23332E-5 40541 0 NA
2-166852523-T-C p.Gly1527Gly splice_region+synonymous SCN1A 2 81528 2.45314E-5 40764 0 NA
2-166852530-C-T p.Arg1525Gln missense SCN1A 1 81734 1.22348E-5 40867 0 3.991E-6
2-166852534-G-T p.Pro1524Thr missense SCN1A 2 81934 2.44099E-5 40967 0 9.59754E-5
2-166852547-C-T p.Pro1519Pro synonymous SCN1A 8 82164 9.73662E-5 41082 0 0.00101729
2-166852548-G-T p.Pro1519Gln missense SCN1A 1 82176 1.2169E-5 41088 0 NA
2-166852548-G-A p.Pro1519Leu missense SCN1A 1 82176 1.2169E-5 41088 0 1.43664E-4
2-166852553-T-C p.Lys1517Lys synonymous SCN1A 7 82284 8.50712E-5 41142 0 0.00101729
2-166852556-C-T p.Ser1516Ser synonymous SCN1A 59 82292 7.16959E-4 41146 0 0.00152594
2-166852557-G-A p.Ser1516Leu missense SCN1A 1 82298 1.2151E-5 41149 0 2.48694E-5
2-166852557-G-T p.Ser1516* stop_gained SCN1A 1 82298 1.2151E-5 41149 0 NA
2-166852575-G-T p.Ala1510Glu missense SCN1A 1 82406 1.2135E-5 41203 0 NA
2-166852580-A-G p.Tyr1508Tyr synonymous SCN1A 1 82374 1.21398E-5 41187 0 8.29807E-6
2-166852583-G-A p.Tyr1507Tyr synonymous SCN1A 2 82346 2.42878E-5 41173 0 NA
2-166852625-A-G p.Phe1493Phe splice_region+synonymous SCN1A 1 81384 1.22874E-5 40692 0 4.00959E-6
2-166854572-A-G p.Asp1484Asp synonymous SCN1A 15 82598 1.81602E-4 41299 0 3.20041E-5
2-166854617-A-G p.Phe1469Phe synonymous SCN1A 1 82594 1.21074E-5 41297 0 NA
2-166854631-T-C p.Ile1465Val missense SCN1A 40 82534 4.84649E-4 41267 0 0.00128296
2-166854634-C-A p.Val1464Phe missense SCN1A 1 82508 1.212E-5 41254 0 NA
2-166854638-G-A p.Tyr1462Tyr synonymous SCN1A 1 82472 1.21253E-5 41236 0 1.6655E-5
2-166854639-T-TA p.Tyr1462fs frameshift SCN1A 1 82448 1.21289E-5 41224 0 NA
2-166854672-G-A p.Pro1451Leu missense SCN1A 1 82306 1.21498E-5 41153 0 NA
2-166854679-G-A p.Leu1449Phe missense SCN1A 2 82272 2.43096E-5 41136 0 3.20554E-5
2-166854682-C-G p.Glu1448Gln missense SCN1A 1 82278 1.21539E-5 41139 0 3.20533E-5
2-166854689-C-T c.4339-4G>A splice_region SCN1A 1 82230 1.2161E-5 41115 0 NA
2-166856254-A-G p.Tyr1439Tyr synonymous SCN1A 1 82054 1.21871E-5 41027 0 1.03891E-4
2-166856263-A-G p.Asp1436Asp synonymous SCN1A 2 81992 2.43926E-5 40996 0 NA
2-166856278-G-A p.Phe1431Phe synonymous SCN1A 2 82030 2.43813E-5 41015 0 NA
2-166856289-A-G c.4285-3T>C splice_region SCN1A 2 81930 2.44111E-5 40965 0 NA
2-166858975-C-T c.4284+7G>A splice_region SCN1A 1 82166 1.21705E-5 41083 0 3.19244E-5
2-166859000-A-T p.Tyr1422* stop_gained SCN1A 1 82532 1.21165E-5 41266 0 NA
2-166859001-T-C p.Tyr1422Cys missense SCN1A 1 82532 1.21165E-5 41266 0 4.00577E-6
2-166859003-C-A p.Gly1421Gly synonymous SCN1A 2 82540 2.42307E-5 41270 0 NA
2-166859005-C-CA p.Gly1421fs frameshift SCN1A 1 82542 1.2115E-5 41271 0 NA
2-166859036-A-G p.Asn1410Asn synonymous SCN1A 1 82710 1.20904E-5 41355 0 NA
2-166859084-A-G p.Thr1394Thr synonymous SCN1A 1 82712 1.20901E-5 41356 0 NA
2-166859093-A-C p.Asn1391Lys missense SCN1A 1 82718 1.20893E-5 41359 0 NA
2-166859099-G-A p.Asp1389Asp synonymous SCN1A 2 82706 2.4182E-5 41353 0 1.99601E-5
2-166859104-C-T p.Glu1388Lys missense SCN1A 1 82696 1.20925E-5 41348 0 1.65516E-5
2-166859114-C-T p.Arg1384Arg synonymous SCN1A 3 82696 3.62775E-5 41348 0 NA
2-166859137-T-C p.Ile1377Val missense SCN1A 3 82682 3.62836E-5 41341 0 1.5951E-4
2-166859141-G-A p.His1375His synonymous SCN1A 3 82682 3.62836E-5 41341 0 1.65486E-5
2-166859153-G-A p.Gly1371Gly synonymous SCN1A 2 82648 2.4199E-5 41324 0 NA
2-166859157-G-GT p.Ala1370fs frameshift SCN1A 1 82644 1.21001E-5 41322 0 NA
2-166859158-C-G p.Ala1370Pro missense SCN1A 1 82644 1.21001E-5 41322 0 NA
2-166859159-A-C p.Phe1369Leu missense SCN1A 2 82648 2.4199E-5 41324 0 NA
2-166859170-C-T p.Val1366Ile missense SCN1A 3 82592 3.63231E-5 41296 0 1.99808E-5
2-166859171-G-A p.Gly1365Gly synonymous SCN1A 6 82580 7.26568E-5 41290 0 3.19122E-5
2-166859175-A-G p.Met1364Thr missense SCN1A 1 82572 1.21106E-5 41286 0 NA
2-166859187-A-G p.Ile1360Thr missense SCN1A 1 82542 1.2115E-5 41271 0 NA
2-166859216-C-T p.Val1350Val synonymous SCN1A 1 82436 1.21306E-5 41218 0 NA
2-166859219-A-G p.Asn1349Asn synonymous SCN1A 1 82436 1.21306E-5 41218 0 NA
2-166859254-T-C p.Asn1338Asp missense SCN1A 3 82254 3.64724E-5 41127 0 4.02752E-6
2-166866221-T-C c.4002+8A>G splice_region SCN1A 1 82226 1.21616E-5 41113 0 3.19673E-5
2-166866230-C-T p.Arg1334Lys missense+splice_region SCN1A 1 82304 1.21501E-5 41152 0 3.20369E-5
2-166866252-A-G p.Leu1327Leu synonymous SCN1A 1 82368 1.21406E-5 41184 0 4.00497E-6
2-166866253-G-A p.Ala1326Ala synonymous SCN1A 2 82372 2.42801E-5 41186 0 4.16799E-5
2-166866256-T-C p.Arg1325Arg synonymous SCN1A 1 82386 1.2138E-5 41193 0 NA
2-166866283-C-T p.Arg1316Arg synonymous SCN1A 28 82474 3.39501E-4 41237 0 5.12066E-4
2-166866306-G-A p.Leu1309Phe missense SCN1A 3 82456 3.6383E-5 41228 0 3.99648E-6
2-166866307-T-A p.Glu1308Asp missense SCN1A 56 82456 6.7915E-4 41228 0 7.54861E-4
2-166866325-A-AT p.Asn1302fs frameshift SCN1A 1 82422 1.21327E-5 41211 0 NA
2-166866332-G-A p.Thr1300Ile missense SCN1A 22 82412 2.66951E-4 41206 0 0.0040282
2-166866342-C-T p.Val1297Ile missense SCN1A 3 82384 3.64148E-5 41192 0 3.20246E-5
2-166866345-A-G p.Leu1296Leu synonymous SCN1A 6 82384 7.28297E-5 41192 0 0.00100705
2-166866345-A-T p.Leu1296Met missense SCN1A 1 82384 1.21383E-5 41192 0 3.99767E-6
2-166868617-A-G c.3879+2T>C splice_donor SCN1A 1 82220 1.21625E-5 41110 0 NA
2-166868652-A-G p.Asn1282Asn synonymous SCN1A 1 82366 1.21409E-5 41183 0 NA
2-166868660-A-C p.Phe1280Val missense SCN1A 1 82364 1.21412E-5 41182 0 NA
2-166868673-G-A p.Gly1275Gly synonymous SCN1A 1 82344 1.21442E-5 41172 0 NA
2-166868689-T-G p.Lys1270Thr missense SCN1A 1 82326 1.21468E-5 41163 0 NA
2-166868694-A-G p.Leu1268Leu synonymous SCN1A 32 82310 3.88774E-4 41155 0 0.00166251
2-166868706-A-G p.Ile1264Ile synonymous SCN1A 5 82288 6.07622E-5 41144 0 8.30855E-6
2-166868714-T-TGTAA p.Ile1262fs frameshift SCN1A 1 82242 1.21592E-5 41121 0 NA
2-166868720-T-G p.Thr1260Pro missense SCN1A 1 82236 1.21601E-5 41118 0 NA
2-166868722-A-G p.Phe1259Ser missense SCN1A 3 82244 3.64768E-5 41122 0 8.00147E-6
2-166868735-C-T p.Ala1255Thr missense SCN1A 1 82184 1.21678E-5 41092 0 1.68062E-5
2-166868736-A-G p.Tyr1254Tyr synonymous SCN1A 1 82206 1.21646E-5 41103 0 4.00532E-6
2-166868744-A-G p.Leu1252Leu synonymous SCN1A 1 82140 1.21743E-5 41070 0 NA
2-166868746-A-G p.Met1251Thr missense SCN1A 2 82120 2.43546E-5 41060 0 3.42472E-5
2-166868748-C-T p.Thr1250Thr synonymous SCN1A 2 82128 2.43522E-5 41064 0 8.56502E-6
2-166868749-G-A p.Thr1250Met missense SCN1A 13 82136 1.58274E-4 41068 0 6.25E-4
2-166868757-C-T p.Thr1247Thr synonymous SCN1A 3 82078 3.65506E-5 41039 0 2.00676E-5
2-166868766-C-T p.Gln1244Gln synonymous SCN1A 2 81932 2.44105E-5 40966 0 3.19754E-5
2-166868772-A-G p.Ile1242Ile synonymous SCN1A 4 81906 4.88365E-5 40953 0 1.59765E-4
2-166868775-A-G p.Tyr1241Tyr synonymous SCN1A 1381 81810 0.0168806 40905 61 0.0359197
2-166868779-A-G p.Ile1240Thr missense SCN1A 5 81804 6.11217E-5 40902 0 1.89487E-5
2-166868781-A-G p.Asp1239Asp synonymous SCN1A 3 81794 3.66775E-5 40897 0 2.23599E-4
2-166868781-AT-A p.Asp1239fs frameshift SCN1A 1 81794 1.22258E-5 40897 0 NA
2-166868784-T-G p.Glu1238Asp missense SCN1A 22 81772 2.69041E-4 40886 0 0.0010101
2-166868787-A-G p.Phe1237Phe synonymous SCN1A 1 81742 1.22336E-5 40871 0 NA
2-166868790-T-TTCTACAATA p.Ala1236_Phe1237insIleValGlu disruptive_inframe_insertion SCN1A 1 81710 1.22384E-5 40855 0 NA
2-166868791-G-T p.Ala1236Glu missense+splice_region SCN1A 2 81692 2.44822E-5 40846 0 NA
2-166868792-C-CTA c.3706-1_3706insTA splice_acceptor SCN1A 2 81650 2.44948E-5 40825 0 NA
2-166868794-T-A c.3706-2A>T splice_acceptor SCN1A 1 81640 1.22489E-5 40820 0 NA
2-166870266-A-G p.Ser1231Ser synonymous SCN1A 1 82688 1.20937E-5 41344 0 9.57732E-5
2-166870278-C-T p.Met1227Ile missense SCN1A 1 82758 1.20834E-5 41379 0 NA
2-166870309-T-C p.His1217Arg missense SCN1A 1 82864 1.2068E-5 41432 0 NA
2-166870319-T-C p.Ile1214Val missense SCN1A 1 82872 1.20668E-5 41436 0 NA
2-166870320-T-G p.Arg1213Arg synonymous SCN1A 1 82876 1.20662E-5 41438 0 NA
2-166870322-G-A p.Arg1213* stop_gained SCN1A 2 82888 2.41289E-5 41444 0 NA
2-166870330-G-A p.Thr1210Met missense SCN1A 4 82884 4.82602E-5 41442 0 2.47721E-5
2-166870341-G-T p.Asn1206Lys missense SCN1A 1 82860 1.20685E-5 41430 0 NA
2-166870348-C-G p.Trp1204Ser missense SCN1A 1 82838 1.20718E-5 41419 0 NA
2-166870354-T-C p.Lys1202Arg missense SCN1A 1 82832 1.20726E-5 41416 0 5.03525E-4
2-166870362-G-A p.Gly1199Gly synonymous SCN1A 1 82828 1.20732E-5 41414 0 3.19101E-5
2-166870374-A-G p.Asn1195Asn synonymous SCN1A 5 82834 6.03617E-5 41417 0 3.19E-5
2-166870375-T-C p.Asn1195Ser missense SCN1A 2 82820 2.41488E-5 41410 0 3.29853E-5
2-166870380-T-G p.Gln1193His missense SCN1A 4 82802 4.8308E-5 41401 0 NA
2-166870383-A-G p.Cys1192Cys synonymous SCN1A 1 82810 1.20758E-5 41405 0 8.2462E-6
2-166870386-A-G p.Cys1191Cys synonymous SCN1A 2 82816 2.41499E-5 41408 0 7.17789E-5
2-166870394-A-G p.Phe1189Leu missense SCN1A 1 82782 1.20799E-5 41391 0 NA
2-166870398-T-G p.Gln1187His missense SCN1A 1 82772 1.20814E-5 41386 0 3.99093E-6
2-166870403-C-A p.Val1186Leu missense SCN1A 4 82752 4.83372E-5 41376 0 3.99466E-5
2-166870403-C-T p.Val1186Ile missense SCN1A 3 82752 3.62529E-5 41376 0 NA
2-166870411-G-A c.3551-3C>T splice_region SCN1A 2 82700 2.41838E-5 41350 0 4.00026E-6
2-166870412-C-T c.3551-4G>A splice_region SCN1A 2 82694 2.41856E-5 41347 0 8.2496E-6
2-166872109-T-C c.3550+8A>G splice_region SCN1A 1 82934 1.20578E-5 41467 0 NA
2-166872111-C-A c.3550+6G>T splice_region SCN1A 1 82944 1.20563E-5 41472 0 3.98146E-6
2-166872140-T-C p.Glu1176Gly missense SCN1A 1 82954 1.20549E-5 41477 0 NA
2-166872146-G-C p.Thr1174Ser missense SCN1A 184 82962 0.00221788 41481 0 0.00213607
2-166872155-G-A p.Pro1171Leu missense SCN1A 1 82976 1.20517E-5 41488 0 NA
2-166872166-G-A p.Pro1167Pro synonymous SCN1A 3 82966 3.61594E-5 41483 0 1.64823E-5
2-166872169-C-T p.Gln1166Gln synonymous SCN1A 6 82970 7.23153E-5 41485 0 6.37592E-5
2-166872171-G-T p.Gln1166Lys missense SCN1A 2 82970 2.41051E-5 41485 0 3.2962E-5
2-166872180-C-G p.Val1163Leu missense SCN1A 1 82962 1.20537E-5 41481 0 2.38897E-5
2-166872186-C-T p.Ala1161Thr missense SCN1A 32 82908 3.8597E-4 41454 0 0.001875
2-166872187-G-A p.Gly1160Gly synonymous SCN1A 6 82900 7.23764E-5 41450 0 9.56877E-5
2-166872187-G-T p.Gly1160Gly synonymous SCN1A 1 82900 1.20627E-5 41450 0 6.37918E-5
2-166872189-C-T p.Gly1160Ser missense SCN1A 7 82896 8.44432E-5 41448 0 3.58449E-5
2-166872189-C-A p.Gly1160Cys missense SCN1A 1 82896 1.20633E-5 41448 0 7.96553E-6
2-166872190-G-A p.Ile1159Ile synonymous SCN1A 2 82898 2.4126E-5 41449 0 3.29685E-5
2-166872192-T-C p.Ile1159Val missense SCN1A 2 82884 2.41301E-5 41442 0 1.64834E-5
2-166872215-G-T p.Ser1151* stop_gained SCN1A 1 82842 1.20712E-5 41421 0 NA
2-166872244-G-T c.3430-7C>A splice_region SCN1A 2 82822 2.41482E-5 41411 0 NA
2-166892571-T-C p.Glu1139Gly missense SCN1A 1 83176 1.20227E-5 41588 0 NA
2-166892579-C-T p.Ser1136Ser synonymous SCN1A 1 83200 1.20192E-5 41600 0 1.19381E-5
2-166892580-G-A p.Ser1136Leu missense SCN1A 1 83208 1.20181E-5 41604 0 7.95824E-6
2-166892596-C-T p.Asp1131Asn missense SCN1A 2 83252 2.40234E-5 41626 0 1.64867E-5
2-166892597-T-C p.Glu1130Glu synonymous SCN1A 1 83254 1.20114E-5 41627 0 NA
2-166892600-C-T p.Thr1129Thr synonymous SCN1A 4 83252 4.80469E-5 41626 0 6.25E-4
2-166892601-G-A p.Thr1129Met missense SCN1A 3 83256 3.60334E-5 41628 0 6.59533E-5
2-166892615-A-C p.Phe1124Leu missense SCN1A 2 83254 2.40229E-5 41627 0 3.97871E-6
2-166892657-A-G p.Ser1110Ser synonymous SCN1A 3 83212 3.60525E-5 41606 0 6.25E-4
2-166892660-G-A p.Pro1109Pro synonymous SCN1A 1 83204 1.20187E-5 41602 0 NA
2-166892662-G-T p.Pro1109Thr missense SCN1A 4 83202 4.80758E-5 41601 0 1.59151E-5
2-166892680-T-C p.Met1103Val missense SCN1A 2 83202 2.40379E-5 41601 0 NA
2-166892692-C-A p.Glu1099* stop_gained SCN1A 1 83176 1.20227E-5 41588 0 NA
2-166892695-C-T p.Asp1098Asn missense SCN1A 1 83174 1.2023E-5 41587 0 NA
2-166892698-T-C p.Ile1097Val missense SCN1A 1 83168 1.20239E-5 41584 0 NA
2-166892704-A-G p.Tyr1095His missense SCN1A 1 83172 1.20233E-5 41586 0 3.18532E-5
2-166892711-A-C p.Val1092Val synonymous SCN1A 1 83158 1.20253E-5 41579 0 1.59166E-5
2-166892727-C-T p.Gly1087Glu missense SCN1A 2 83102 2.40668E-5 41551 0 NA
2-166892729-T-A p.Ile1086Ile synonymous SCN1A 2 83090 2.40703E-5 41545 0 3.18492E-5
2-166892753-A-T p.Asp1078Glu missense SCN1A 1 83036 1.2043E-5 41518 0 NA
2-166892762-A-G p.Tyr1075Tyr synonymous SCN1A 1 82996 1.20488E-5 41498 0 7.96445E-6
2-166892767-C-T p.Asp1074Asn missense SCN1A 4 82966 4.82125E-5 41483 0 8.24987E-6
2-166892781-A-G p.Ile1069Thr missense SCN1A 1 82882 1.20653E-5 41441 0 NA
2-166892788-C-T p.Ala1067Thr missense SCN1A 55973 82030 0.682348 41015 19324 0.748278
2-166892796-T-C p.Asn1064Ser missense SCN1A 2 82816 2.41499E-5 41408 0 1.66061E-5
2-166892811-T-A p.Asp1059Val missense SCN1A 2 82776 2.41616E-5 41388 0 5.59007E-5
2-166892820-T-C p.Asn1056Ser missense SCN1A 1 82732 1.20872E-5 41366 0 NA
2-166892821-T-C p.Asn1056Asp missense SCN1A 5 82730 6.04376E-5 41365 0 4.79716E-5
2-166892822-G-A p.Asn1055Asn synonymous SCN1A 1 82726 1.20881E-5 41363 0 NA
2-166892826-A-C p.Leu1054Arg missense SCN1A 1 82710 1.20904E-5 41355 0 4.00147E-6
2-166892838-G-C p.Pro1050Arg missense SCN1A 1 82638 1.2101E-5 41319 0 NA
2-166892867-C-A p.Arg1040Ser missense SCN1A 1 82410 1.21345E-5 41205 0 2.84562E-5
2-166892880-T-G p.Gln1036Pro missense SCN1A 1 82342 1.21445E-5 41171 0 4.1213E-6
2-166892886-A-G p.Ile1034Thr missense SCN1A 28 82282 3.40293E-4 41141 0 8.59982E-4
2-166892927-G-T p.His1020Gln missense SCN1A 3 82278 3.64618E-5 41139 0 3.18593E-5
2-166892927-G-C p.His1020Gln missense SCN1A 1 82278 1.21539E-5 41139 0 NA
2-166892929-G-C p.His1020Asp missense SCN1A 3 82280 3.64609E-5 41140 0 NA
2-166892948-T-C p.Gln1013Gln synonymous SCN1A 1 82472 1.21253E-5 41236 0 3.18492E-5
2-166892963-T-G p.Glu1008Asp missense SCN1A 1 82594 1.21074E-5 41297 0 NA
2-166892971-C-A p.Asp1006Tyr missense SCN1A 1 82614 1.21045E-5 41307 0 NA
2-166892990-G-T p.Asn999Lys missense SCN1A 1 82610 1.21051E-5 41305 0 NA
2-166892998-C-T p.Ala997Thr missense SCN1A 2 82600 2.42131E-5 41300 0 4.01365E-6
2-166893029-G-C p.Leu986Leu synonymous SCN1A 1 82376 1.21395E-5 41188 0 8.01468E-6
2-166893040-C-T p.Val983Ile missense+splice_region SCN1A 1 82076 1.21838E-5 41038 0 NA
2-166893047-A-C c.2947-7T>G splice_region SCN1A 4 81920 4.88281E-5 40960 0 4.03584E-6
2-166894304-C-CT p.Met976fs frameshift SCN1A 1 83366 1.19953E-5 41683 0 NA
2-166894305-A-G p.Met976Thr missense SCN1A 1 83370 1.19947E-5 41685 0 NA
2-166894306-T-G p.Met976Leu missense SCN1A 8 83372 9.59555E-5 41686 0 3.97668E-5
2-166894321-C-T p.Val971Ile missense SCN1A 3 83392 3.59747E-5 41696 0 8.23669E-6
2-166894343-A-G p.Ala963Ala synonymous SCN1A 344 83376 0.00412589 41688 0 0.00956697
2-166894344-G-A p.Ala963Val missense SCN1A 1 83388 1.19921E-5 41694 0 NA
2-166894355-A-G p.Cys959Cys synonymous SCN1A 3 83392 3.59747E-5 41696 0 6.25E-4
2-166894356-C-T p.Cys959Tyr missense SCN1A 1 83392 1.19916E-5 41696 0 NA
2-166894356-CA-C p.Cys959fs frameshift SCN1A 1 83392 1.19916E-5 41696 0 NA
2-166894382-C-T p.Gly950Gly synonymous SCN1A 1 83408 1.19893E-5 41704 0 NA
2-166894391-C-T p.Val947Val synonymous SCN1A 3 83408 3.59678E-5 41704 0 6.37105E-5
2-166894394-G-A p.Arg946Arg synonymous SCN1A 6 83406 7.19373E-5 41703 0 3.18593E-5
2-166894396-G-A p.Arg946Cys missense SCN1A 1 83408 1.19893E-5 41704 0 NA
2-166894397-G-A p.Phe945Phe synonymous SCN1A 1 83406 1.19895E-5 41703 0 NA
2-166894408-G-A p.Leu942Leu synonymous SCN1A 1 83408 1.19893E-5 41704 0 NA
2-166894417-G-A p.His939Tyr missense SCN1A 1 83396 1.1991E-5 41698 0 NA
2-166894421-G-A p.Phe937Phe synonymous SCN1A 5 83400 5.9952E-5 41700 0 1.27397E-4
2-166894439-G-C p.Arg931Arg synonymous SCN1A 1 83390 1.19918E-5 41695 0 NA
2-166894462-C-T p.Ala924Thr missense SCN1A 9 83398 1.07916E-4 41699 0 1.07375E-4
2-166894463-G-A p.Ile923Ile synonymous SCN1A 2 83398 2.39814E-5 41699 0 8.23655E-6
2-166894495-C-T p.Gly913Ser missense SCN1A 1 83394 1.19913E-5 41697 0 NA
2-166894498-A-T p.Phe912Ile missense SCN1A 1 83390 1.19918E-5 41695 0 NA
2-166894502-C-G p.Gln910His missense SCN1A 1 83390 1.19918E-5 41695 0 NA
2-166894511-G-A p.Val907Val synonymous SCN1A 4 83390 4.79674E-5 41695 0 8.23669E-6
2-166894514-C-A p.Val906Val synonymous SCN1A 1 83394 1.19913E-5 41697 0 NA
2-166894516-C-T p.Val906Met missense SCN1A 3 83388 3.59764E-5 41694 0 3.18573E-5
2-166894517-G-A p.Ala905Ala synonymous SCN1A 8 83388 9.59371E-5 41694 0 5.76568E-5
2-166894531-C-T p.Val901Ile missense SCN1A 2 83386 2.39848E-5 41693 0 1.64739E-5
2-166894544-G-T p.Val896Val synonymous SCN1A 1 83368 1.1995E-5 41684 0 7.95425E-6
2-166894562-C-T p.Leu890Leu synonymous SCN1A 1 83354 1.1997E-5 41677 0 2.47321E-5
2-166894565-A-C p.Ala889Ala synonymous SCN1A 2 83344 2.39969E-5 41672 0 3.1837E-5
2-166894577-A-G p.Asn885Asn synonymous SCN1A 6 83320 7.20115E-5 41660 0 0.00125
2-166894581-C-T p.Gly884Asp missense SCN1A 1 83312 1.20031E-5 41656 0 NA
2-166894582-C-T p.Gly884Ser missense SCN1A 1 83312 1.20031E-5 41656 0 7.95919E-6
2-166894583-G-A p.Ile883Ile synonymous SCN1A 2 83306 2.40079E-5 41653 0 6.36983E-5
2-166894631-G-T p.Phe867Leu missense SCN1A 1 83162 1.20247E-5 41581 0 NA
2-166894637-T-A p.Arg865Arg synonymous SCN1A 1 83140 1.20279E-5 41570 0 NA
2-166894642-G-A p.Leu864Leu splice_region+synonymous SCN1A 1 83132 1.20291E-5 41566 0 2.67991E-5
2-166894645-G-A c.2590-3C>T splice_region SCN1A 2 83118 2.40622E-5 41559 0 4.05785E-6
2-166895929-TTA-T c.2589+2_2589+3delTA splice_donor SCN1A 1 82422 1.21327E-5 41211 0 1.98855E-4
2-166895942-TGAAC-T p.Arg859fs frameshift SCN1A 1 82658 1.2098E-5 41329 0 NA
2-166895945-A-G p.Arg859Arg synonymous SCN1A 8 82740 9.66884E-5 41370 0 0.00151057
2-166895946-C-T p.Arg859His missense SCN1A 1 82728 1.20878E-5 41364 0 7.98818E-6
2-166895963-T-G p.Glu853Asp missense SCN1A 1 83028 1.20441E-5 41514 0 1.19458E-5
2-166895970-T-C p.Asn851Ser missense SCN1A 1 83122 1.20305E-5 41561 0 1.65188E-5
2-166895971-T-C p.Asn851Asp missense SCN1A 2 83128 2.40593E-5 41564 0 6.4222E-5
2-166895974-C-T p.Ala850Thr missense SCN1A 1 83124 1.20302E-5 41562 0 8.25968E-6
2-166895992-G-A p.Leu844Leu synonymous SCN1A 1 83198 1.20195E-5 41599 0 NA
2-166895999-C-G p.Thr841Thr synonymous SCN1A 1 83212 1.20175E-5 41606 0 NA
2-166896001-T-C p.Thr841Ala missense SCN1A 2 83206 2.40367E-5 41603 0 NA
2-166896002-C-A p.Val840Val synonymous SCN1A 2 83206 2.40367E-5 41603 0 1.59188E-5
2-166896013-C-T p.Gly837Ser missense SCN1A 2 83228 2.40304E-5 41614 0 2.47566E-5
2-166896014-G-A p.Asp836Asp synonymous SCN1A 6 83222 7.20963E-5 41611 0 3.30158E-5
2-166896036-T-A p.Gln829Leu missense SCN1A 2 83174 2.4046E-5 41587 0 NA
2-166896054-T-C p.Asp823Gly missense SCN1A 5 83002 6.02395E-5 41501 0 NA
2-166896062-A-AATGTC p.Ile820fs frameshift SCN1A 1 82878 1.20659E-5 41439 0 NA
2-166896063-A-ATG p.Ile820fs frameshift SCN1A 1 82864 1.2068E-5 41432 0 NA
2-166896065-A-C p.Ile819Met missense SCN1A 1 82840 1.20715E-5 41420 0 NA
2-166896071-C-G p.Leu817Leu synonymous SCN1A 1 82762 1.20828E-5 41381 0 3.19142E-5
2-166896085-C-T p.Ala813Thr missense SCN1A 1 82598 1.21068E-5 41299 0 8.3011E-6
2-166896092-G-A p.Ile810Ile synonymous SCN1A 1 82572 1.21106E-5 41286 0 NA
2-166896098-A-C p.Thr808Thr synonymous SCN1A 1 82498 1.21215E-5 41249 0 NA
2-166896101-G-A p.Phe807Phe synonymous SCN1A 130 82430 0.0015771 41215 1 0.00625782
2-166896110-A-C c.2416-4T>G splice_region SCN1A 1 82288 1.21524E-5 41144 0 5.19331E-5
2-166897752-C-T p.Val802Ile missense SCN1A 2 82902 2.41249E-5 41451 0 3.98153E-6
2-166897774-G-A p.Asp794Asp synonymous SCN1A 1 82990 1.20496E-5 41495 0 NA
2-166897777-C-T p.Thr793Thr synonymous SCN1A 1 82990 1.20496E-5 41495 0 3.18898E-5
2-166897782-T-C p.Met792Val missense SCN1A 2 83016 2.40917E-5 41508 0 3.18593E-5
2-166897787-T-A p.Tyr790Phe missense SCN1A 1 83038 1.20427E-5 41519 0 3.18715E-5
2-166897792-C-T p.Glu788Glu synonymous SCN1A 2 83050 2.40819E-5 41525 0 NA
2-166897810-A-G p.Thr782Thr synonymous SCN1A 1 83106 1.20328E-5 41553 0 3.97985E-6
2-166897850-A-T p.Phe769Tyr missense SCN1A 1 83136 1.20285E-5 41568 0 NA
2-166897861-C-T p.Val765Val synonymous SCN1A 1 83122 1.20305E-5 41561 0 NA
2-166897863-C-T p.Val765Met missense SCN1A 1 83120 1.20308E-5 41560 0 8.2375E-6
2-166897864-A-G p.Val764Val synonymous SCN1A 56639 82806 0.683996 41403 19618 0.748431
2-166897864-A-T p.Val764Val synonymous SCN1A 2 83118 2.40622E-5 41559 0 8.23805E-6
2-166897872-T-G p.Asn762His missense SCN1A 2 83130 2.40587E-5 41565 0 NA
2-166897878-C-A p.Val760Phe missense SCN1A 1 83134 1.20288E-5 41567 0 NA
2-166897878-C-G p.Val760Leu missense SCN1A 1 83134 1.20288E-5 41567 0 NA
2-166897884-T-G p.Lys758Gln missense SCN1A 2 83154 2.40518E-5 41577 0 NA
2-166897916-A-G p.Ile747Thr missense SCN1A 1 83192 1.20204E-5 41596 0 7.95824E-6
2-166897918-T-A p.Leu746Phe missense SCN1A 1 83194 1.20201E-5 41597 0 3.21812E-5
2-166897922-A-C p.Phe745Cys missense SCN1A 1 83204 1.20187E-5 41602 0 2.47235E-5
2-166897955-C-T p.Cys734Tyr missense SCN1A 1 83082 1.20363E-5 41541 0 NA
2-166897971-C-T p.Glu729Lys missense SCN1A 1 82804 1.20767E-5 41402 0 4.97282E-5
2-166897983-G-A c.2177-4C>T splice_region SCN1A 8 81832 9.77613E-5 40916 0 4.98311E-4
2-166897984-ATT-A c.2177-7_2177-6delAA splice_region SCN1A 2 82228 2.43226E-5 41114 0 4.85432E-6
2-166897985-T-TA c.2177-7_2177-6insT splice_region SCN1A 13 82020 1.58498E-4 41010 0 1.21907E-4
2-166897985-T-TAA c.2177-7_2177-6insTT splice_region SCN1A 1 82052 1.21874E-5 41026 0 NA
2-166897985-T-A c.2177-6A>T splice_region SCN1A 1 82046 1.21883E-5 41023 0 NA
2-166897986-T-TA c.2177-8_2177-7insT splice_region SCN1A 366 79116 0.00462612 39558 0 0.0858998
2-166897986-T-TAA c.2177-8_2177-7insTT splice_region SCN1A 60 81220 7.38734E-4 40610 0 0.0110927
2-166897986-T-TAAA c.2177-8_2177-7insTTT splice_region SCN1A 12 81604 1.47052E-4 40802 0 0.0010741
2-166897986-T-TAAAA c.2177-8_2177-7insTTTT splice_region SCN1A 2 81664 2.44906E-5 40832 0 1.04559E-4
2-166897986-T-A c.2177-7A>T splice_region SCN1A 8 81510 9.81475E-5 40755 0 3.91114E-4
2-166898808-C-T p.Val724Ile missense SCN1A 2 83078 2.40738E-5 41539 0 3.98235E-6
2-166898821-A-G p.Ile719Ile synonymous SCN1A 1 83108 1.20325E-5 41554 0 NA
2-166898823-T-A p.Ile719Phe missense SCN1A 1 83106 1.20328E-5 41553 0 NA
2-166898842-T-C p.Arg712Arg synonymous SCN1A 1 83114 1.20317E-5 41557 0 NA
2-166898853-G-C p.Gln709Glu missense SCN1A 1 83098 1.2034E-5 41549 0 3.18593E-5
2-166898884-G-A p.His698His synonymous SCN1A 1 83108 1.20325E-5 41554 0 3.18532E-5
2-166898891-G-T p.Ser696Tyr missense SCN1A 1 83090 1.20351E-5 41545 0 3.98032E-6
2-166898900-C-A p.Arg693Met missense SCN1A 2 83086 2.40714E-5 41543 0 6.37064E-5
2-166898906-T-C p.Lys691Arg missense SCN1A 2 83058 2.40796E-5 41529 0 NA
2-166898921-T-G p.Glu686Ala missense SCN1A 2 83034 2.40865E-5 41517 0 9.55231E-5
2-166898922-C-T p.Glu686Lys missense SCN1A 1 83032 1.20435E-5 41516 0 NA
2-166898930-G-T p.Thr683Lys missense SCN1A 1 82986 1.20502E-5 41493 0 NA
2-166898938-T-TA c.2044-5_2044-4insT splice_region SCN1A 32 82944 3.85802E-4 41472 0 0.00147472
2-166898938-TA-T c.2044-5delT splice_region SCN1A 9 82922 1.08536E-4 41461 0 0.00495147
2-166900179-A-G p.Asn681Asn splice_region+synonymous SCN1A 2 82642 2.42008E-5 41321 0 8.79616E-6
2-166900203-T-C p.Ile673Met missense SCN1A 1 83078 1.20369E-5 41539 0 NA
2-166900204-A-G p.Ile673Thr missense SCN1A 1 83088 1.20354E-5 41544 0 NA
2-166900230-A-T p.Val664Val synonymous SCN1A 1 83222 1.20161E-5 41611 0 NA
2-166900242-A-C p.Pro660Pro synonymous SCN1A 1 83256 1.20111E-5 41628 0 NA
2-166900278-A-C p.Asn648Lys missense SCN1A 3 83240 3.60404E-5 41620 0 NA
2-166900290-A-G p.Thr644Thr synonymous SCN1A 1 83236 1.2014E-5 41618 0 1.98937E-5
2-166900293-G-A p.Ser643Ser synonymous SCN1A 1 83236 1.2014E-5 41618 0 3.9788E-6
2-166900312-G-A p.Ala637Val missense SCN1A 1 83222 1.20161E-5 41611 0 3.97934E-6
2-166900333-C-T p.Arg630Gln missense SCN1A 2 83254 2.40229E-5 41627 0 1.59256E-4
2-166900334-G-A p.Arg630Trp missense SCN1A 1 83262 1.20103E-5 41631 0 2.78518E-5
2-166900351-T-C p.Gln624Arg missense SCN1A 1 83284 1.20071E-5 41642 0 NA
2-166900373-T-C p.Arg617Gly missense SCN1A 2 83276 2.40165E-5 41638 0 NA
2-166900378-C-T p.Gly615Glu missense SCN1A 1 83276 1.20083E-5 41638 0 NA
2-166900380-G-A p.His614His synonymous SCN1A 4 83274 4.80342E-5 41637 0 1.64775E-5
2-166900395-A-G p.Phe609Phe synonymous SCN1A 1 83270 1.20091E-5 41635 0 8.23818E-6
2-166900404-A-G p.Asp606Asp synonymous SCN1A 1 83274 1.20085E-5 41637 0 NA
2-166900408-C-G p.Arg605Thr missense SCN1A 2 83266 2.40194E-5 41633 0 1.59205E-4
2-166900411-C-T p.Arg604His missense SCN1A 134 83254 0.00160953 41627 0 0.0075
2-166900412-G-A p.Arg604Cys missense SCN1A 3 83248 3.60369E-5 41624 1 6.37146E-5
2-166900419-G-A p.Asn601Asn synonymous SCN1A 6 83230 7.20894E-5 41615 0 2.78507E-5
2-166900421-T-A p.Asn601Tyr missense SCN1A 2 83230 2.40298E-5 41615 0 NA
2-166900425-C-T p.Glu599Glu synonymous SCN1A 8 83224 9.61261E-5 41612 0 9.55901E-5
2-166900431-G-T p.Thr597Thr synonymous SCN1A 1 83216 1.20169E-5 41608 0 NA
2-166900432-G-T p.Thr597Asn missense SCN1A 12 83206 1.4422E-4 41603 0 9.55718E-5
2-166900452-G-A p.Phe590Phe synonymous SCN1A 3 83110 3.60967E-5 41555 0 2.47133E-5
2-166900455-G-A p.Asp589Asp synonymous SCN1A 1 83110 1.20322E-5 41555 0 NA
2-166900465-G-A p.Ser586Phe missense SCN1A 1 83080 1.20366E-5 41540 0 NA
2-166900469-C-G p.Gly585Arg missense SCN1A 1 83072 1.20378E-5 41536 0 3.97969E-6
2-166900483-C-T p.Arg580Gln missense SCN1A 5 83022 6.0225E-5 41511 0 1.27405E-4
2-166900484-G-T p.Arg580Arg synonymous SCN1A 1 83014 1.20462E-5 41507 0 3.98048E-6
2-166900503-G-C p.Ser573Arg missense SCN1A 1 82928 1.20587E-5 41464 0 NA
2-166900512-G-A p.Ser570Ser synonymous SCN1A 3 82858 3.62065E-5 41429 0 5.97248E-5
2-166900515-A-G p.Asn569Asn synonymous SCN1A 2 82838 2.41435E-5 41419 0 8.25055E-6
2-166900522-C-T p.Arg567Lys missense SCN1A 2 82722 2.41774E-5 41361 0 3.98232E-6
2-166900542-A-G p.Arg560Arg synonymous SCN1A 5 82362 6.07076E-5 41181 0 9.55171E-5
2-166900544-G-A p.Arg560Cys missense SCN1A 1 82282 1.21533E-5 41141 0 1.19632E-5
2-166900554-C-A p.Leu556Phe missense SCN1A 2 82004 2.43891E-5 41002 0 8.39828E-6
2-166900558-G-C p.Ser555Cys missense+splice_region SCN1A 1 81854 1.22169E-5 40927 0 NA
2-166900562-A-G c.1663-3T>C splice_region SCN1A 1 81700 1.22399E-5 40850 0 5.09987E-5
2-166901556-GTGTGGGGAGGAGTACCTCTTTTCATA-G p.Tyr545fs frameshift SCN1A 1 82904 1.20621E-5 41452 0 NA
2-166901588-A-G p.Leu543Leu synonymous SCN1A 2 83100 2.40674E-5 41550 0 NA
2-166901590-C-T p.Arg542Gln missense SCN1A 227 83102 0.00273158 41551 1 0.00503525
2-166901591-G-T p.Arg542Arg synonymous SCN1A 5 83112 6.01598E-5 41556 0 2.54874E-4
2-166901611-C-T p.Arg535His missense SCN1A 7 83232 8.41023E-5 41616 0 1.19363E-5
2-166901612-G-A p.Arg535Cys missense SCN1A 1 83240 1.20135E-5 41620 0 3.29522E-5
2-166901633-T-A p.Ser528Cys missense SCN1A 4 83274 4.80342E-5 41637 0 3.1841E-5
2-166901636-C-T p.Asp527Asn missense SCN1A 1 83278 1.2008E-5 41639 0 NA
2-166901663-C-T p.Asp518Asn missense SCN1A 2 83288 2.40131E-5 41644 0 NA
2-166901667-A-G p.Asp516Asp synonymous SCN1A 1 83294 1.20057E-5 41647 0 NA
2-166901676-T-C p.Glu513Glu synonymous SCN1A 6 83302 7.20271E-5 41651 0 0.001875
2-166901683-C-T p.Gly511Asp missense SCN1A 1 83296 1.20054E-5 41648 0 NA
2-166901688-C-T p.Gln509Gln synonymous SCN1A 2 83290 2.40125E-5 41645 0 1.6475E-5
2-166901689-T-A p.Gln509Leu missense SCN1A 1 83288 1.20065E-5 41644 0 NA
2-166901716-C-T p.Arg500Gln missense SCN1A 1 83228 1.20152E-5 41614 0 1.4829E-4
2-166901717-G-A p.Arg500Trp missense SCN1A 4 83218 4.80665E-5 41609 0 1.64772E-5
2-166901736-A-T p.Ser493Arg missense SCN1A 1 83138 1.20282E-5 41569 0 3.98245E-6
2-166901747-T-G p.Ser490Arg missense SCN1A 1 83058 1.20398E-5 41529 0 NA
2-166901775-T-G p.Ser480Ser synonymous SCN1A 2 82862 2.41365E-5 41431 0 1.27372E-4
2-166901790-T-G p.Ala475Ala synonymous SCN1A 3 82778 3.62415E-5 41389 0 NA
2-166901794-C-T p.Ser474Asn missense SCN1A 2 82742 2.41715E-5 41371 0 NA
2-166901804-T-C p.Arg471Gly missense SCN1A 1 82696 1.20925E-5 41348 0 NA
2-166901805-G-A p.Ser470Ser synonymous SCN1A 14 82672 1.69344E-4 41336 0 0.0020141
2-166901810-G-T p.His469Asn missense SCN1A 1 82640 1.21007E-5 41320 0 NA
2-166901819-C-T p.Ala466Thr missense SCN1A 1 82564 1.21118E-5 41282 0 NA
2-166901826-C-T p.Thr463Thr synonymous SCN1A 2 82422 2.42654E-5 41211 0 5.04032E-4
2-166901830-G-A p.Ala462Val missense SCN1A 1 82314 1.21486E-5 41157 0 NA
2-166901840-A-G c.1378-3T>C splice_region SCN1A 38 82082 4.62952E-4 41041 0 3.41127E-4
2-166901843-T-C c.1378-6A>G splice_region SCN1A 1 81882 1.22127E-5 40941 0 NA
2-166903291-C-G p.Glu456Gln missense SCN1A 1 82066 1.21853E-5 41033 0 7.97486E-6
2-166903297-G-T p.Gln454Lys missense SCN1A 2 82220 2.4325E-5 41110 0 7.97289E-6
2-166903300-T-A p.Lys453* stop_gained SCN1A 1 82298 1.2151E-5 41149 0 NA
2-166903333-C-T p.Ala442Thr missense SCN1A 2 82848 2.41406E-5 41424 0 NA
2-166903379-G-A p.Tyr426Tyr synonymous SCN1A 1 83000 1.20482E-5 41500 0 2.47296E-5
2-166903404-A-T p.Ile418Asn missense SCN1A 1 83086 1.20357E-5 41543 0 NA
2-166903409-A-G p.Asn416Asn synonymous SCN1A 1 83094 1.20346E-5 41547 0 8.24022E-6
2-166903417-G-A p.Leu414Leu synonymous SCN1A 2 83094 2.40691E-5 41547 0 3.98035E-6
2-166903437-A-G p.Ile407Thr missense SCN1A 1 83098 1.2034E-5 41549 0 3.1839E-5
2-166903445-T-C p.Val404Val synonymous SCN1A 53365 82306 0.648373 41153 17465 0.707805
2-166903447-C-CA p.Val404fs frameshift SCN1A 1 83062 1.20392E-5 41531 0 NA
2-166903456-T-C p.Ile401Val missense SCN1A 3 83012 3.61394E-5 41506 0 NA
2-166903458-A-G p.Met400Thr missense SCN1A 2 83000 2.40964E-5 41500 0 NA
2-166903463-C-T p.Thr398Thr synonymous SCN1A 3 82936 3.61725E-5 41468 0 6.36943E-5
2-166903473-G-C p.Ala395Gly missense SCN1A 1 82896 1.20633E-5 41448 0 NA
2-166903479-C-T p.Arg393His missense SCN1A 2 82832 2.41453E-5 41416 0 NA
2-166903480-G-A p.Arg393Cys missense SCN1A 2 82818 2.41493E-5 41409 0 NA
2-166903484-T-C p.Thr391Thr splice_region+synonymous SCN1A 3 82790 3.62363E-5 41395 0 3.18837E-5
2-166903492-A-G c.1171-6T>C splice_region SCN1A 1 82654 1.20986E-5 41327 0 NA
2-166904134-C-T c.1170+3G>A splice_region SCN1A 1 82982 1.20508E-5 41491 0 NA
2-166904140-T-C p.Gln389Gln synonymous SCN1A 2 82988 2.40999E-5 41494 0 3.18451E-5
2-166904176-T-G p.Arg377Arg synonymous SCN1A 153 82924 0.00184506 41462 0 0.00321718
2-166904184-A-G p.Leu375Leu synonymous SCN1A 1 82928 1.20587E-5 41464 0 NA
2-166904200-A-G p.Ser369Ser synonymous SCN1A 1 82950 1.20555E-5 41475 0 8.24239E-6
2-166904216-C-T p.Ser364Asn missense SCN1A 1 83016 1.20459E-5 41508 0 6.76757E-4
2-166904216-C-G p.Ser364Thr missense SCN1A 3 83016 3.61376E-5 41508 0 NA
2-166904242-A-G p.Gly355Gly synonymous SCN1A 3 83054 3.61211E-5 41527 0 1.99041E-5
2-166904249-T-G p.Lys353Thr missense SCN1A 1 83076 1.20372E-5 41538 0 NA
2-166904258-A-G p.Met350Thr missense SCN1A 2 83058 2.40796E-5 41529 0 7.96102E-6
2-166904267-T-C p.Glu347Gly missense SCN1A 2 83024 2.40894E-5 41512 0 NA
2-166905390-A-G c.1028+6T>C splice_region SCN1A 1 81780 1.22279E-5 40890 0 3.9976E-6
2-166905397-C-T p.Gly343Ser missense+splice_region SCN1A 2 81912 2.44164E-5 40956 0 NA
2-166905416-A-G p.Cys336Cys synonymous SCN1A 1 82092 1.21815E-5 41046 0 NA
2-166905419-T-C p.Leu335Leu synonymous SCN1A 2 82060 2.43724E-5 41030 0 8.30592E-6
2-166905424-G-C p.Leu334Val missense SCN1A 64 82096 7.79575E-4 41048 0 3.39481E-4
2-166905440-C-T p.Glu328Glu synonymous SCN1A 2 82146 2.43469E-5 41073 0 NA
2-166905441-T-A p.Glu328Val missense SCN1A 4 82142 4.86962E-5 41071 0 3.18939E-5
2-166905466-G-T c.965-7C>A splice_region SCN1A 1 81996 1.21957E-5 40998 0 NA
2-166908233-A-G p.Asp320Asp synonymous SCN1A 1 82074 1.21841E-5 41037 0 NA
2-166908240-A-T p.Ile318Asn missense SCN1A 1 82170 1.21699E-5 41085 0 NA
2-166908253-A-G p.Trp314Arg missense SCN1A 1 82260 1.21566E-5 41130 0 NA
2-166908254-G-A p.Asp313Asp synonymous SCN1A 1 82246 1.21586E-5 41123 0 NA
2-166908274-C-T p.Glu307Lys missense SCN1A 1 82340 1.21448E-5 41170 0 3.18492E-5
2-166908279-A-G p.Ile305Thr missense SCN1A 2 82378 2.42783E-5 41189 0 8.58236E-6
2-166908298-T-C p.Asn299Asp missense SCN1A 1 82548 1.21142E-5 41274 0 3.99795E-6
2-166908303-G-A p.Thr297Ile missense SCN1A 8 82546 9.69157E-5 41273 0 1.67639E-5
2-166908313-T-C p.Lys294Glu missense SCN1A 1 82586 1.21086E-5 41293 0 NA
2-166908320-A-G p.Ser291Ser synonymous SCN1A 1 82674 1.20957E-5 41337 0 3.18532E-5
2-166908323-A-G p.His290His synonymous SCN1A 4 82676 4.83816E-5 41338 0 3.18492E-5
2-166908326-T-C p.Glu289Glu synonymous SCN1A 1 82708 1.20907E-5 41354 0 NA
2-166908332-C-T p.Leu287Leu synonymous SCN1A 2 82706 2.4182E-5 41353 0 5.80691E-5
2-166908334-A-C p.Leu287Val missense SCN1A 1 82730 1.20875E-5 41365 0 8.29105E-6
2-166908351-G-A p.Pro281Leu missense SCN1A 3 82744 3.62564E-5 41372 0 NA
2-166908377-G-A p.Asn272Asn synonymous SCN1A 1 82790 1.20788E-5 41395 0 NA
2-166908398-C-A p.Gly265Gly synonymous SCN1A 1 82684 1.20942E-5 41342 0 3.98944E-6
2-166908402-A-G p.Ile264Thr missense SCN1A 3 82682 3.62836E-5 41341 0 5.03525E-4
2-166908415-C-T p.Val260Ile missense SCN1A 1 82642 1.21004E-5 41321 0 4.13394E-5
2-166908416-G-A p.Ser259Ser synonymous SCN1A 1 82634 1.21016E-5 41317 0 5.03525E-4
2-166908417-C-T p.Ser259Asn missense SCN1A 1 82612 1.21048E-5 41306 0 NA
2-166908431-A-G p.Thr254Thr synonymous SCN1A 1 82542 1.2115E-5 41271 0 3.99313E-6
2-166908437-G-A p.Ile252Ile synonymous SCN1A 2 82506 2.42407E-5 41253 0 NA
2-166908446-A-G p.Asp249Asp synonymous SCN1A 3 82520 3.63548E-5 41260 0 8.26966E-6
2-166908459-T-C p.Lys245Arg missense SCN1A 1 82466 1.21262E-5 41233 0 1.99736E-5
2-166908473-C-G p.Leu240Leu synonymous SCN1A 3 82412 3.64025E-5 41206 0 7.45218E-5
2-166908476-G-C p.Ala239Ala synonymous SCN1A 2 82374 2.42795E-5 41187 0 3.18654E-5
2-166908484-C-T p.Val237Met missense SCN1A 1 82312 1.21489E-5 41156 0 NA
2-166908500-T-TGAAAGAAA c.695-3_695-2insTTTCTTTC splice_region SCN1A 1 82204 1.21649E-5 41102 0 NA
2-166909354-G-T c.694+8C>A splice_region SCN1A 2 82824 2.41476E-5 41412 0 8.9548E-6
2-166909362-C-T p.Gly232Ser missense+splice_region SCN1A 1 82914 1.20607E-5 41457 0 NA
2-166909381-C-T p.Lys225Lys synonymous SCN1A 1 83026 1.20444E-5 41513 0 NA
2-166909386-A-G p.Leu224Leu synonymous SCN1A 1 83070 1.2038E-5 41535 0 0.0010101
2-166909394-A-G p.Leu221Pro missense SCN1A 2 83116 2.40628E-5 41558 0 NA
2-166909413-A-G p.Leu215Leu synonymous SCN1A 3 83186 3.60638E-5 41593 1 3.18837E-5
2-166909417-C-T p.Ser213Ser synonymous SCN1A 2 83178 2.40448E-5 41589 0 2.55846E-5
2-166909424-T-C p.Asn211Ser missense SCN1A 1 83178 1.20224E-5 41589 0 NA
2-166909450-G-A p.Tyr202Tyr synonymous SCN1A 3 83144 3.6082E-5 41572 0 3.44768E-5
2-166909456-G-A c.603-3C>T splice_region SCN1A 1 83140 1.20279E-5 41570 0 8.67137E-6
2-166911140-G-GCA c.602+7_602+8insTG splice_region SCN1A 24 83130 2.88704E-4 41565 1 0.00139672
2-166911142-A-G c.602+6T>C splice_region SCN1A 2 83142 2.40552E-5 41571 0 NA
2-166911147-C-T c.602+1G>A splice_donor SCN1A 4 83112 4.81278E-5 41556 0 NA
2-166911153-T-C p.Thr199Thr synonymous SCN1A 1 83124 1.20302E-5 41562 0 9.57465E-5
2-166911156-A-G p.Ile198Ile synonymous SCN1A 1 83122 1.20305E-5 41561 0 NA
2-166911171-G-A p.Leu193Leu synonymous SCN1A 7 83082 8.42541E-5 41541 0 7.47881E-5
2-166911182-A-G p.Trp190Arg missense SCN1A 1 83078 1.20369E-5 41539 0 NA
2-166911191-G-A p.Arg187Trp missense SCN1A 1 83064 1.20389E-5 41532 0 3.99125E-6
2-166911192-A-G p.Leu186Leu synonymous SCN1A 3 83064 3.61167E-5 41532 0 1.16688E-4
2-166911198-A-G p.Thr184Thr synonymous SCN1A 1 83064 1.20389E-5 41532 0 7.98148E-6
2-166911222-C-T p.Arg176Arg synonymous SCN1A 1 83028 1.20441E-5 41514 0 3.99795E-6
2-166911238-A-G p.Ile171Thr missense SCN1A 1 82898 1.2063E-5 41449 0 NA
2-166911239-T-C p.Ile171Val missense SCN1A 2 82892 2.41278E-5 41446 0 8.52806E-6
2-166911241-A-G p.Leu170Pro missense SCN1A 1 82878 1.20659E-5 41439 0 NA
2-166911244-G-A p.Ser169Leu missense SCN1A 1 82830 1.20729E-5 41415 0 NA
2-166911250-A-G p.Phe167Ser missense SCN1A 1 82760 1.20831E-5 41380 0 NA
2-166911262-C-CAAA p.Gly163delinsValTer stop_gained SCN1A 1 82538 1.21156E-5 41269 0 NA
2-166911265-G-C p.Thr162Arg missense SCN1A 1 82470 1.21256E-5 41235 0 NA
2-166912965-C-T p.Val143Val synonymous SCN1A 1 82600 1.21065E-5 41300 0 5.03525E-4
2-166912971-G-C p.Asn141Lys missense SCN1A 1 82586 1.21086E-5 41293 0 NA
2-166912981-A-C p.Ile138Ser missense SCN1A 1 82594 1.21074E-5 41297 0 NA
2-166912989-C-T p.Met135Ile missense SCN1A 2 82516 2.42377E-5 41258 0 NA
2-166913013-A-G c.384-3T>C splice_region SCN1A 3 82094 3.65435E-5 41047 0 7.98665E-6
2-166915084-G-C p.His127Asp missense SCN1A 13 82744 1.57111E-4 41372 0 9.5706E-5
2-166915118-A-G p.Asn115Asn synonymous SCN1A 1006 82916 0.0121328 41458 33 0.0269348
2-166915130-T-C p.Leu111Leu synonymous SCN1A 15 82978 1.80771E-4 41489 0 1.47403E-4
2-166915142-G-A p.Ala107Ala synonymous SCN1A 1 82950 1.20555E-5 41475 0 NA
2-166915145-A-G p.Ser106Ser synonymous SCN1A 1 82956 1.20546E-5 41478 0 NA
2-166915149-G-T p.Thr105Asn missense SCN1A 1 82958 1.20543E-5 41479 0 3.98349E-6
2-166915160-C-T p.Arg101Arg synonymous SCN1A 1 82950 1.20555E-5 41475 0 NA
2-166915170-G-A p.Ala98Val missense SCN1A 3 82932 3.61742E-5 41466 0 NA
2-166915193-A-G p.Phe90Phe synonymous SCN1A 1 82842 1.20712E-5 41421 0 4.78061E-5
2-166929865-C-T c.264+3G>A splice_region SCN1A 1 82866 1.20677E-5 41433 0 8.24212E-6
2-166929895-G-A p.Asp79Asp synonymous SCN1A 1 83266 1.20097E-5 41633 0 5.03525E-4
2-166929898-C-T p.Glu78Glu synonymous SCN1A 1 83276 1.20083E-5 41638 0 7.95577E-6
2-166929904-G-C p.Pro76Pro synonymous SCN1A 5 83276 6.00413E-5 41638 0 7.9552E-6
2-166929915-C-G p.Val73Leu missense SCN1A 2 83312 2.40061E-5 41656 0 NA
2-166929920-T-C p.Glu71Gly missense SCN1A 1 83320 1.20019E-5 41660 0 NA
2-166929929-A-G p.Ile68Thr missense SCN1A 1 83326 1.20011E-5 41663 0 1.64734E-5
2-166929945-A-G p.Phe63Leu missense SCN1A 1 83356 1.19967E-5 41678 0 NA
2-166929947-G-A p.Pro62Leu missense SCN1A 2 83354 2.3994E-5 41677 0 NA
2-166929970-G-A p.Asp54Asp synonymous SCN1A 1 83358 1.19964E-5 41679 0 NA
2-166929988-G-A p.Gly48Gly synonymous SCN1A 4 83360 4.79846E-5 41680 0 0.00151057
2-166929996-C-T p.Glu46Lys missense SCN1A 1 83358 1.19964E-5 41679 0 0.00125
2-166929997-G-A p.Asp45Asp synonymous SCN1A 3 83358 3.59893E-5 41679 0 4.11834E-5
2-166929999-C-T p.Asp45Asn missense SCN1A 1 83360 1.19962E-5 41680 0 8.23655E-6
2-166930000-G-A p.Asp44Asp synonymous SCN1A 1 83360 1.19962E-5 41680 0 9.06021E-5
2-166930011-T-C p.Lys41Glu missense SCN1A 1 83362 1.19959E-5 41681 0 8.23655E-6
2-166930017-G-T p.Pro39Thr missense SCN1A 1 83364 1.19956E-5 41682 0 6.3743E-5
2-166930026-T-C p.Asn36Asp missense SCN1A 1 83358 1.19964E-5 41679 0 NA
2-166930030-T-C p.Ala34Ala synonymous SCN1A 3 83354 3.59911E-5 41677 0 8.23655E-6
2-166930035-T-C p.Lys33Glu missense SCN1A 1 83358 1.19964E-5 41679 0 7.9552E-6
2-166930045-A-C p.Ile29Met missense SCN1A 1 83350 1.19976E-5 41675 0 NA
2-166930045-A-G p.Ile29Ile synonymous SCN1A 1 83350 1.19976E-5 41675 0 3.18532E-5
2-166930049-C-T p.Arg28His missense SCN1A 1 83350 1.19976E-5 41675 0 8.23696E-6
2-166930050-G-A p.Arg28Cys missense SCN1A 1 83348 1.19979E-5 41674 0 3.58069E-5
2-166930052-C-G p.Arg27Thr missense SCN1A 21 83346 2.51962E-4 41673 0 1.15317E-4
2-166930063-C-T p.Ala23Ala synonymous SCN1A 1 83338 1.19993E-5 41669 0 1.59256E-4
2-166930064-G-A p.Ala23Val missense SCN1A 54 83340 6.47948E-4 41670 0 0.0011465
2-166930064-G-T p.Ala23Glu missense SCN1A 3 83342 3.59963E-5 41671 0 8.23723E-6
2-166930090-G-A p.Phe14Phe synonymous SCN1A 1 83324 1.20013E-5 41662 0 NA
2-166930094-C-A p.Ser13Ile missense SCN1A 2 83332 2.40004E-5 41666 0 NA
2-166930100-G-T p.Pro11His missense SCN1A 1 83314 1.20028E-5 41657 0 7.95551E-6
2-166930107-G-C p.Pro9Ala missense SCN1A 1 83308 1.20036E-5 41654 0 7.9557E-6