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Gene: SCN1A

DECIPHER
Ensembl
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HGNC
IGMDx
OMIM
RVIS


Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
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



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