Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166280484_166280488delCA2661767710SCN1A-AS1,SCN9Ac.2216_2220del (p.Phe739CysfsTer30)
c.2183_2187del (p.Phe728CysfsTer30)
c.1218_1222del
n.1029+3237_1029+3241del
c.1829_1833del (p.Phe610CysfsTer30)
c.1472_1476del (p.Phe491CysfsTer30)
n.2530_2534del
 gnomAD v4
2g.166280481A=CA1304965756SCN1A-AS1,SCN9Ac.2219T= (p.Ile740=)
c.2186T= (p.Ile729=)
c.1221T=
n.1029+3234A=
c.1832T= (p.Ile611=)
c.1475T= (p.Ile492=)
n.2533T=
2g.166280481A>CCA349079695SCN1A-AS1,SCN9Ac.2219T>G (p.Ile740Ser)
c.2186T>G (p.Ile729Ser)
c.1221T>G
n.1029+3234A>C
c.1832T>G (p.Ile611Ser)
c.1475T>G (p.Ile492Ser)
n.2533T>G
2g.166280481A>GCA349079693SCN1A-AS1,SCN9Ac.2219T>C (p.Ile740Thr)
c.2186T>C (p.Ile729Thr)
c.1221T>C
n.1029+3234A>G
c.1832T>C (p.Ile611Thr)
c.1475T>C (p.Ile492Thr)
n.2533T>C
 ClinVar dbSNP
2g.166280481A>TCA349079694SCN1A-AS1,SCN9Ac.2219T>A (p.Ile740Asn)
c.2186T>A (p.Ile729Asn)
c.1221T>A
n.1029+3234A>T
c.1832T>A (p.Ile611Asn)
c.1475T>A (p.Ile492Asn)
n.2533T>A
2g.166280482T>ACA349079696SCN1A-AS1,SCN9Ac.2218A>T (p.Ile740Phe)
c.2185A>T (p.Ile729Phe)
c.1220A>T
n.1029+3235T>A
c.1831A>T (p.Ile611Phe)
c.1474A>T (p.Ile492Phe)
n.2532A>T
2g.166280482T>CCA349079697SCN1A-AS1,SCN9Ac.2218A>G (p.Ile740Val)
c.2185A>G (p.Ile729Val)
c.1220A>G
n.1029+3235T>C
c.1831A>G (p.Ile611Val)
c.1474A>G (p.Ile492Val)
n.2532A>G
 gnomAD v4
2g.166280482T>GCA349079698SCN1A-AS1,SCN9Ac.2218A>C (p.Ile740Leu)
c.2185A>C (p.Ile729Leu)
c.1220A>C
n.1029+3235T>G
c.1831A>C (p.Ile611Leu)
c.1474A>C (p.Ile492Leu)
n.2532A>C
2g.166280483A>CCA349079699SCN1A-AS1,SCN9Ac.2217T>G (p.Phe739Leu)
c.2184T>G (p.Phe728Leu)
c.1219T>G
n.1029+3236A>C
c.1830T>G (p.Phe610Leu)
c.1473T>G (p.Phe491Leu)
n.2531T>G
2g.166280483A>GCA429902443SCN1A-AS1,SCN9Ac.2217T>C (p.Phe739=)
c.2184T>C (p.Phe728=)
c.1219T>C
n.1029+3236A>G
c.1830T>C (p.Phe610=)
c.1473T>C (p.Phe491=)
n.2531T>C
2g.166280483A>TCA349079700SCN1A-AS1,SCN9Ac.2217T>A (p.Phe739Leu)
c.2184T>A (p.Phe728Leu)
c.1219T>A
n.1029+3236A>T
c.1830T>A (p.Phe610Leu)
c.1473T>A (p.Phe491Leu)
n.2531T>A
2g.166280486dupCA2580064366SCN1A-AS1,SCN9Ac.2217dup (p.Ile740TyrfsTer?)
c.2184dup (p.Ile729TyrfsTer?)
c.1219dup
n.1029+3239dup
c.1830dup (p.Ile611TyrfsTer?)
c.1473dup (p.Ile492TyrfsTer?)
n.2531dup
 ClinVar
2g.166280484A=CA1304965758SCN1A-AS1,SCN9Ac.2216T= (p.Phe739=)
c.2183T= (p.Phe728=)
c.1218T=
n.1029+3237A=
c.1829T= (p.Phe610=)
c.1472T= (p.Phe491=)
n.2530T=
2g.166280484A>CCA349079701SCN1A-AS1,SCN9Ac.2216T>G (p.Phe739Cys)
c.2183T>G (p.Phe728Cys)
c.1218T>G
n.1029+3237A>C
c.1829T>G (p.Phe610Cys)
c.1472T>G (p.Phe491Cys)
n.2530T>G
2g.166280484A>GCA349079703SCN1A-AS1,SCN9Ac.2216T>C (p.Phe739Ser)
c.2183T>C (p.Phe728Ser)
c.1218T>C
n.1029+3237A>G
c.1829T>C (p.Phe610Ser)
c.1472T>C (p.Phe491Ser)
n.2530T>C
 ClinVar dbSNP
2g.166280484A>TCA349079702SCN1A-AS1,SCN9Ac.2216T>A (p.Phe739Tyr)
c.2183T>A (p.Phe728Tyr)
c.1218T>A
n.1029+3237A>T
c.1829T>A (p.Phe610Tyr)
c.1472T>A (p.Phe491Tyr)
n.2530T>A
2g.166280485A>CCA349079704SCN1A-AS1,SCN9Ac.2215T>G (p.Phe739Val)
c.2182T>G (p.Phe728Val)
c.1217T>G
n.1029+3238A>C
c.1828T>G (p.Phe610Val)
c.1471T>G (p.Phe491Val)
n.2529T>G
2g.166280485A>GCA349079705SCN1A-AS1,SCN9Ac.2215T>C (p.Phe739Leu)
c.2182T>C (p.Phe728Leu)
c.1217T>C
n.1029+3238A>G
c.1828T>C (p.Phe610Leu)
c.1471T>C (p.Phe491Leu)
n.2529T>C
2g.166280485A>TCA349079706SCN1A-AS1,SCN9Ac.2215T>A (p.Phe739Ile)
c.2182T>A (p.Phe728Ile)
c.1217T>A
n.1029+3238A>T
c.1828T>A (p.Phe610Ile)
c.1471T>A (p.Phe491Ile)
n.2529T>A
2g.166280486A>CCA349079707SCN1A-AS1,SCN9Ac.2214T>G (p.Tyr738Ter)
c.2181T>G (p.Tyr727Ter)
c.1216T>G
n.1029+3239A>C
c.1827T>G (p.Tyr609Ter)
c.1470T>G (p.Tyr490Ter)
n.2528T>G
2g.166280486A>GCA429902457SCN1A-AS1,SCN9Ac.2214T>C (p.Tyr738=)
c.2181T>C (p.Tyr727=)
c.1216T>C
n.1029+3239A>G
c.1827T>C (p.Tyr609=)
c.1470T>C (p.Tyr490=)
n.2528T>C
2g.166280486A>TCA349079708SCN1A-AS1,SCN9Ac.2214T>A (p.Tyr738Ter)
c.2181T>A (p.Tyr727Ter)
c.1216T>A
n.1029+3239A>T
c.1827T>A (p.Tyr609Ter)
c.1470T>A (p.Tyr490Ter)
n.2528T>A
2g.166280487T>ACA349079709SCN1A-AS1,SCN9Ac.2213A>T (p.Tyr738Phe)
c.2180A>T (p.Tyr727Phe)
c.1215A>T
n.1029+3240T>A
c.1826A>T (p.Tyr609Phe)
c.1469A>T (p.Tyr490Phe)
n.2527A>T
2g.166280487T>CCA349079710SCN1A-AS1,SCN9Ac.2213A>G (p.Tyr738Cys)
c.2180A>G (p.Tyr727Cys)
c.1215A>G
n.1029+3240T>C
c.1826A>G (p.Tyr609Cys)
c.1469A>G (p.Tyr490Cys)
n.2527A>G
 gnomAD v4
2g.166280487T>GCA349079711SCN1A-AS1,SCN9Ac.2213A>C (p.Tyr738Ser)
c.2180A>C (p.Tyr727Ser)
c.1215A>C
n.1029+3240T>G
c.1826A>C (p.Tyr609Ser)
c.1469A>C (p.Tyr490Ser)
n.2527A>C
2g.166280487_166280488delinsTACA1304965759SCN1A-AS1,SCN9Ac.2212_2213delinsTA (p.Tyr738=)
c.2179_2180delinsTA (p.Tyr727=)
c.1214_1215delinsTA
n.1029+3240_1029+3241delinsTA
c.1825_1826delinsTA (p.Tyr609=)
c.1468_1469delinsTA (p.Tyr490=)
n.2526_2527delinsTA
2g.166280488delCA916701038SCN1A-AS1,SCN9Ac.2212del (p.Tyr738IlefsTer4)
c.2179del (p.Tyr727IlefsTer4)
c.1214del
n.1029+3241del
c.1825del (p.Tyr609IlefsTer4)
c.1468del (p.Tyr490IlefsTer4)
n.2526del
 dbSNP gnomAD v3 gnomAD v4
2g.166280488A=CA1304965761SCN1A-AS1,SCN9Ac.2212T= (p.Tyr738=)
c.2179T= (p.Tyr727=)
c.1214T=
n.1029+3241A=
c.1825T= (p.Tyr609=)
c.1468T= (p.Tyr490=)
n.2526T=
2g.166280488A>CCA349079712SCN1A-AS1,SCN9Ac.2212T>G (p.Tyr738Asp)
c.2179T>G (p.Tyr727Asp)
c.1214T>G
n.1029+3241A>C
c.1825T>G (p.Tyr609Asp)
c.1468T>G (p.Tyr490Asp)
n.2526T>G
2g.166280488A>GCA349079713SCN1A-AS1,SCN9Ac.2212T>C (p.Tyr738His)
c.2179T>C (p.Tyr727His)
c.1214T>C
n.1029+3241A>G
c.1825T>C (p.Tyr609His)
c.1468T>C (p.Tyr490His)
n.2526T>C
 dbSNP
2g.166280488A>TCA349079714SCN1A-AS1,SCN9Ac.2212T>A (p.Tyr738Asn)
c.2179T>A (p.Tyr727Asn)
c.1214T>A
n.1029+3241A>T
c.1825T>A (p.Tyr609Asn)
c.1468T>A (p.Tyr490Asn)
n.2526T>A
2g.166280489G>ACA429902460SCN1A-AS1,SCN9Ac.2211C>T (p.Ile737=)
c.2178C>T (p.Ile726=)
c.1213C>T
n.1029+3242G>A
c.1824C>T (p.Ile608=)
c.1467C>T (p.Ile489=)
n.2525C>T
 COSMIC COSMIC
2g.166280489G>CCA349079715SCN1A-AS1,SCN9Ac.2211C>G (p.Ile737Met)
c.2178C>G (p.Ile726Met)
c.1213C>G
n.1029+3242G>C
c.1824C>G (p.Ile608Met)
c.1467C>G (p.Ile489Met)
n.2525C>G
 gnomAD v4
2g.166280489G>TCA429902461SCN1A-AS1,SCN9Ac.2211C>A (p.Ile737=)
c.2178C>A (p.Ile726=)
c.1213C>A
n.1029+3242G>T
c.1824C>A (p.Ile608=)
c.1467C>A (p.Ile489=)
n.2525C>A
2g.166280490A=CA1304965763SCN1A-AS1,SCN9Ac.2210T= (p.Ile737=)
c.2177T= (p.Ile726=)
c.1212T=
n.1029+3243A=
c.1823T= (p.Ile608=)
c.1466T= (p.Ile489=)
n.2524T=
2g.166280490A>CCA349079716SCN1A-AS1,SCN9Ac.2210T>G (p.Ile737Ser)
c.2177T>G (p.Ile726Ser)
c.1212T>G
n.1029+3243A>C
c.1823T>G (p.Ile608Ser)
c.1466T>G (p.Ile489Ser)
n.2524T>G
2g.166280490A>GCA1944309SCN1A-AS1,SCN9Ac.2210T>C (p.Ile737Thr)
c.2177T>C (p.Ile726Thr)
c.1212T>C
n.1029+3243A>G
c.1823T>C (p.Ile608Thr)
c.1466T>C (p.Ile489Thr)
n.2524T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280490A>TCA349079717SCN1A-AS1,SCN9Ac.2210T>A (p.Ile737Asn)
c.2177T>A (p.Ile726Asn)
c.1212T>A
n.1029+3243A>T
c.1823T>A (p.Ile608Asn)
c.1466T>A (p.Ile489Asn)
n.2524T>A
2g.166280491T>ACA349079718SCN1A-AS1,SCN9Ac.2209A>T (p.Ile737Phe)
c.2176A>T (p.Ile726Phe)
c.1211A>T
n.1029+3244T>A
c.1822A>T (p.Ile608Phe)
c.1465A>T (p.Ile489Phe)
n.2523A>T
2g.166280491T>CCA349079720SCN1A-AS1,SCN9Ac.2209A>G (p.Ile737Val)
c.2176A>G (p.Ile726Val)
c.1211A>G
n.1029+3244T>C
c.1822A>G (p.Ile608Val)
c.1465A>G (p.Ile489Val)
n.2523A>G
 gnomAD v4
2g.166280491T>GCA349079719SCN1A-AS1,SCN9Ac.2209A>C (p.Ile737Leu)
c.2176A>C (p.Ile726Leu)
c.1211A>C
n.1029+3244T>G
c.1822A>C (p.Ile608Leu)
c.1465A>C (p.Ile489Leu)
n.2523A>C
2g.166280492A=CA1304965764SCN1A-AS1,SCN9Ac.2208T= (p.Cys736=)
c.2175T= (p.Cys725=)
c.1210T=
n.1029+3245A=
c.1821T= (p.Cys607=)
c.1464T= (p.Cys488=)
n.2522T=
2g.166280492A>CCA349079721SCN1A-AS1,SCN9Ac.2208T>G (p.Cys736Trp)
c.2175T>G (p.Cys725Trp)
c.1210T>G
n.1029+3245A>C
c.1821T>G (p.Cys607Trp)
c.1464T>G (p.Cys488Trp)
n.2522T>G
2g.166280492A>GCA429902466SCN1A-AS1,SCN9Ac.2208T>C (p.Cys736=)
c.2175T>C (p.Cys725=)
c.1210T>C
n.1029+3245A>G
c.1821T>C (p.Cys607=)
c.1464T>C (p.Cys488=)
n.2522T>C
 gnomAD v4
2g.166280492A>TCA349079722SCN1A-AS1,SCN9Ac.2208T>A (p.Cys736Ter)
c.2175T>A (p.Cys725Ter)
c.1210T>A
n.1029+3245A>T
c.1821T>A (p.Cys607Ter)
c.1464T>A (p.Cys488Ter)
n.2522T>A
 dbSNP
2g.166280493C>ACA349079723SCN1A-AS1,SCN9Ac.2207G>T (p.Cys736Phe)
c.2174G>T (p.Cys725Phe)
c.1209G>T
n.1029+3246C>A
c.1820G>T (p.Cys607Phe)
c.1463G>T (p.Cys488Phe)
n.2521G>T
2g.166280493C>GCA349079724SCN1A-AS1,SCN9Ac.2207G>C (p.Cys736Ser)
c.2174G>C (p.Cys725Ser)
c.1209G>C
n.1029+3246C>G
c.1820G>C (p.Cys607Ser)
c.1463G>C (p.Cys488Ser)
n.2521G>C
 COSMIC COSMIC
2g.166280493C>TCA349079725SCN1A-AS1,SCN9Ac.2207G>A (p.Cys736Tyr)
c.2174G>A (p.Cys725Tyr)
c.1209G>A
n.1029+3246C>T
c.1820G>A (p.Cys607Tyr)
c.1463G>A (p.Cys488Tyr)
n.2521G>A
 gnomAD v4
2g.166280494A>CCA349079726SCN1A-AS1,SCN9Ac.2206T>G (p.Cys736Gly)
c.2173T>G (p.Cys725Gly)
c.1208T>G
n.1029+3247A>C
c.1819T>G (p.Cys607Gly)
c.1462T>G (p.Cys488Gly)
n.2520T>G
2g.166280494A>GCA349079727SCN1A-AS1,SCN9Ac.2206T>C (p.Cys736Arg)
c.2173T>C (p.Cys725Arg)
c.1208T>C
n.1029+3247A>G
c.1819T>C (p.Cys607Arg)
c.1462T>C (p.Cys488Arg)
n.2520T>C
 COSMIC COSMIC
2g.166280494A>TCA349079728SCN1A-AS1,SCN9Ac.2206T>A (p.Cys736Ser)
c.2173T>A (p.Cys725Ser)
c.1208T>A
n.1029+3247A>T
c.1819T>A (p.Cys607Ser)
c.1462T>A (p.Cys488Ser)
n.2520T>A
2g.166280495C>ACA349079729SCN1A-AS1,SCN9Ac.2205G>T (p.Lys735Asn)
c.2172G>T (p.Lys724Asn)
c.1207G>T
n.1029+3248C>A
c.1818G>T (p.Lys606Asn)
c.1461G>T (p.Lys487Asn)
n.2519G>T
 COSMIC COSMIC
2g.166280495C=CA1304965768SCN1A-AS1,SCN9Ac.2205G= (p.Lys735=)
c.2172G= (p.Lys724=)
c.1207G=
n.1029+3248C=
c.1818G= (p.Lys606=)
c.1461G= (p.Lys487=)
n.2519G=
2g.166280495C>GCA1944310SCN1A-AS1,SCN9Ac.2205G>C (p.Lys735Asn)
c.2172G>C (p.Lys724Asn)
c.1207G>C
n.1029+3248C>G
c.1818G>C (p.Lys606Asn)
c.1461G>C (p.Lys487Asn)
n.2519G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280495C>TCA429902472SCN1A-AS1,SCN9Ac.2205G>A (p.Lys735=)
c.2172G>A (p.Lys724=)
c.1207G>A
n.1029+3248C>T
c.1818G>A (p.Lys606=)
c.1461G>A (p.Lys487=)
n.2519G>A
 ClinVar
2g.166280495_166280497delinsCTTCA1304965767SCN1A-AS1,SCN9Ac.2203_2205delinsAAG (p.Lys735=)
c.2170_2172delinsAAG (p.Lys724=)
c.1205_1207delinsAAG
n.1029+3248_1029+3250delinsCTT
c.1816_1818delinsAAG (p.Lys606=)
c.1459_1461delinsAAG (p.Lys487=)
n.2517_2519delinsAAG
2g.166280496T>ACA349079730SCN1A-AS1,SCN9Ac.2204A>T (p.Lys735Met)
c.2171A>T (p.Lys724Met)
c.1206A>T
n.1029+3249T>A
c.1817A>T (p.Lys606Met)
c.1460A>T (p.Lys487Met)
n.2518A>T
2g.166280496T>CCA349079731SCN1A-AS1,SCN9Ac.2204A>G (p.Lys735Arg)
c.2171A>G (p.Lys724Arg)
c.1206A>G
n.1029+3249T>C
c.1817A>G (p.Lys606Arg)
c.1460A>G (p.Lys487Arg)
n.2518A>G
 gnomAD v4
2g.166280496T>GCA349079732SCN1A-AS1,SCN9Ac.2204A>C (p.Lys735Thr)
c.2171A>C (p.Lys724Thr)
c.1206A>C
n.1029+3249T>G
c.1817A>C (p.Lys606Thr)
c.1460A>C (p.Lys487Thr)
n.2518A>C
 dbSNP gnomAD v2 gnomAD v4
2g.166280496T=CA1304965773SCN1A-AS1,SCN9Ac.2204A= (p.Lys735=)
c.2171A= (p.Lys724=)
c.1206A=
n.1029+3249T=
c.1817A= (p.Lys606=)
c.1460A= (p.Lys487=)
n.2518A=
2g.166280500delCA2499215222SCN1A-AS1,SCN9Ac.2204del (p.Lys735SerfsTer7)
c.2171del (p.Lys724SerfsTer7)
c.1206del
n.1029+3253del
c.1817del (p.Lys606SerfsTer7)
c.1460del (p.Lys487SerfsTer7)
n.2518del
 ClinVar dbSNP
2g.166280499_166280500delCA760211502SCN1A-AS1,SCN9Ac.2203_2204del (p.Lys735ValfsTer?)
c.2170_2171del (p.Lys724ValfsTer?)
c.1205_1206del
n.1029+3252_1029+3253del
c.1816_1817del (p.Lys606ValfsTer?)
c.1459_1460del (p.Lys487ValfsTer?)
n.2517_2518del
 dbSNP gnomAD v3 gnomAD v4
2g.166280497T>ACA349079733SCN1A-AS1,SCN9Ac.2203A>T (p.Lys735Ter)
c.2170A>T (p.Lys724Ter)
c.1205A>T
n.1029+3250T>A
c.1816A>T (p.Lys606Ter)
c.1459A>T (p.Lys487Ter)
n.2517A>T
2g.166280497T>CCA349079735SCN1A-AS1,SCN9Ac.2203A>G (p.Lys735Glu)
c.2170A>G (p.Lys724Glu)
c.1205A>G
n.1029+3250T>C
c.1816A>G (p.Lys606Glu)
c.1459A>G (p.Lys487Glu)
n.2517A>G
2g.166280497T>GCA349079734SCN1A-AS1,SCN9Ac.2203A>C (p.Lys735Gln)
c.2170A>C (p.Lys724Gln)
c.1205A>C
n.1029+3250T>G
c.1816A>C (p.Lys606Gln)
c.1459A>C (p.Lys487Gln)
n.2517A>C
2g.166280498T>ACA349079736SCN1A-AS1,SCN9Ac.2202A>T (p.Lys734Asn)
c.2169A>T (p.Lys723Asn)
c.1204A>T
n.1029+3251T>A
c.1815A>T (p.Lys605Asn)
c.1458A>T (p.Lys486Asn)
n.2516A>T
2g.166280498T>CCA429902476SCN1A-AS1,SCN9Ac.2202A>G (p.Lys734=)
c.2169A>G (p.Lys723=)
c.1204A>G
n.1029+3251T>C
c.1815A>G (p.Lys605=)
c.1458A>G (p.Lys486=)
n.2516A>G
 ClinVar dbSNP gnomAD v4
2g.166280498T>GCA349079737SCN1A-AS1,SCN9Ac.2202A>C (p.Lys734Asn)
c.2169A>C (p.Lys723Asn)
c.1204A>C
n.1029+3251T>G
c.1815A>C (p.Lys605Asn)
c.1458A>C (p.Lys486Asn)
n.2516A>C
2g.166280499T>ACA349079738SCN1A-AS1,SCN9Ac.2201A>T (p.Lys734Ile)
c.2168A>T (p.Lys723Ile)
c.1203A>T
n.1029+3252T>A
c.1814A>T (p.Lys605Ile)
c.1457A>T (p.Lys486Ile)
n.2515A>T
2g.166280499T>CCA349079739SCN1A-AS1,SCN9Ac.2201A>G (p.Lys734Arg)
c.2168A>G (p.Lys723Arg)
c.1203A>G
n.1029+3252T>C
c.1814A>G (p.Lys605Arg)
c.1457A>G (p.Lys486Arg)
n.2515A>G
 ClinVar dbSNP gnomAD v4
2g.166280499T>GCA349079740SCN1A-AS1,SCN9Ac.2201A>C (p.Lys734Thr)
c.2168A>C (p.Lys723Thr)
c.1203A>C
n.1029+3252T>G
c.1814A>C (p.Lys605Thr)
c.1457A>C (p.Lys486Thr)
n.2515A>C
2g.166280499T=CA1304965775SCN1A-AS1,SCN9Ac.2201A= (p.Lys734=)
c.2168A= (p.Lys723=)
c.1203A=
n.1029+3252T=
c.1814A= (p.Lys605=)
c.1457A= (p.Lys486=)
n.2515A=
2g.166280500T>ACA349079741SCN1A-AS1,SCN9Ac.2200A>T (p.Lys734Ter)
c.2167A>T (p.Lys723Ter)
c.1202A>T
n.1029+3253T>A
c.1813A>T (p.Lys605Ter)
c.1456A>T (p.Lys486Ter)
n.2514A>T
 dbSNP
2g.166280500T>CCA349079742SCN1A-AS1,SCN9Ac.2200A>G (p.Lys734Glu)
c.2167A>G (p.Lys723Glu)
c.1202A>G
n.1029+3253T>C
c.1813A>G (p.Lys605Glu)
c.1456A>G (p.Lys486Glu)
n.2514A>G
 dbSNP
2g.166280500T>GCA349079743SCN1A-AS1,SCN9Ac.2200A>C (p.Lys734Gln)
c.2167A>C (p.Lys723Gln)
c.1202A>C
n.1029+3253T>G
c.1813A>C (p.Lys605Gln)
c.1456A>C (p.Lys486Gln)
n.2514A>C
2g.166280500T=CA1304965777SCN1A-AS1,SCN9Ac.2200A= (p.Lys734=)
c.2167A= (p.Lys723=)
c.1202A=
n.1029+3253T=
c.1813A= (p.Lys605=)
c.1456A= (p.Lys486=)
n.2514A=
2g.166280501delCA2661767711SCN1A-AS1,SCN9Ac.2199del (p.Phe733LeufsTer9)
c.2166del (p.Phe722LeufsTer9)
c.1201del
n.1029+3254del
c.1812del (p.Phe604LeufsTer9)
c.1455del (p.Phe485LeufsTer9)
n.2513del
 gnomAD v4
2g.166280501G>ACA429902484SCN1A-AS1,SCN9Ac.2199C>T (p.Phe733=)
c.2166C>T (p.Phe722=)
c.1201C>T
n.1029+3254G>A
c.1812C>T (p.Phe604=)
c.1455C>T (p.Phe485=)
n.2513C>T
 gnomAD v4
2g.166280501G>CCA349079744SCN1A-AS1,SCN9Ac.2199C>G (p.Phe733Leu)
c.2166C>G (p.Phe722Leu)
c.1201C>G
n.1029+3254G>C
c.1812C>G (p.Phe604Leu)
c.1455C>G (p.Phe485Leu)
n.2513C>G
2g.166280501G>TCA349079745SCN1A-AS1,SCN9Ac.2199C>A (p.Phe733Leu)
c.2166C>A (p.Phe722Leu)
c.1201C>A
n.1029+3254G>T
c.1812C>A (p.Phe604Leu)
c.1455C>A (p.Phe485Leu)
n.2513C>A
 gnomAD v4
2g.166280502A=CA1304965779SCN1A-AS1,SCN9Ac.2198T= (p.Phe733=)
c.2165T= (p.Phe722=)
c.1200T=
n.1029+3255A=
c.1811T= (p.Phe604=)
c.1454T= (p.Phe485=)
n.2512T=
2g.166280502A>CCA59796661SCN1A-AS1,SCN9Ac.2198T>G (p.Phe733Cys)
c.2165T>G (p.Phe722Cys)
c.1200T>G
n.1029+3255A>C
c.1811T>G (p.Phe604Cys)
c.1454T>G (p.Phe485Cys)
n.2512T>G
 dbSNP
2g.166280502A>GCA349079747SCN1A-AS1,SCN9Ac.2198T>C (p.Phe733Ser)
c.2165T>C (p.Phe722Ser)
c.1200T>C
n.1029+3255A>G
c.1811T>C (p.Phe604Ser)
c.1454T>C (p.Phe485Ser)
n.2512T>C
2g.166280502A>TCA349079746SCN1A-AS1,SCN9Ac.2198T>A (p.Phe733Tyr)
c.2165T>A (p.Phe722Tyr)
c.1200T>A
n.1029+3255A>T
c.1811T>A (p.Phe604Tyr)
c.1454T>A (p.Phe485Tyr)
n.2512T>A
2g.166280503A>CCA349079748SCN1A-AS1,SCN9Ac.2197T>G (p.Phe733Val)
c.2164T>G (p.Phe722Val)
c.1199T>G
n.1029+3256A>C
c.1810T>G (p.Phe604Val)
c.1453T>G (p.Phe485Val)
n.2511T>G
2g.166280503A>GCA349079749SCN1A-AS1,SCN9Ac.2197T>C (p.Phe733Leu)
c.2164T>C (p.Phe722Leu)
c.1199T>C
n.1029+3256A>G
c.1810T>C (p.Phe604Leu)
c.1453T>C (p.Phe485Leu)
n.2511T>C
 gnomAD v4
2g.166280503A>TCA349079750SCN1A-AS1,SCN9Ac.2197T>A (p.Phe733Ile)
c.2164T>A (p.Phe722Ile)
c.1199T>A
n.1029+3256A>T
c.1810T>A (p.Phe604Ile)
c.1453T>A (p.Phe485Ile)
n.2511T>A
2g.166280504T>ACA349079751SCN1A-AS1,SCN9Ac.2196A>T (p.Lys732Asn)
c.2163A>T (p.Lys721Asn)
c.1198A>T
n.1029+3257T>A
c.1809A>T (p.Lys603Asn)
c.1452A>T (p.Lys484Asn)
n.2510A>T
2g.166280504T>CCA429902489SCN1A-AS1,SCN9Ac.2196A>G (p.Lys732=)
c.2163A>G (p.Lys721=)
c.1198A>G
n.1029+3257T>C
c.1809A>G (p.Lys603=)
c.1452A>G (p.Lys484=)
n.2510A>G
 ClinVar
2g.166280504T>GCA349079752SCN1A-AS1,SCN9Ac.2196A>C (p.Lys732Asn)
c.2163A>C (p.Lys721Asn)
c.1198A>C
n.1029+3257T>G
c.1809A>C (p.Lys603Asn)
c.1452A>C (p.Lys484Asn)
n.2510A>C
2g.166280505T>ACA349079753SCN1A-AS1,SCN9Ac.2195A>T (p.Lys732Ile)
c.2162A>T (p.Lys721Ile)
c.1197A>T
n.1029+3258T>A
c.1808A>T (p.Lys603Ile)
c.1451A>T (p.Lys484Ile)
n.2509A>T
2g.166280505T>CCA349079754SCN1A-AS1,SCN9Ac.2195A>G (p.Lys732Arg)
c.2162A>G (p.Lys721Arg)
c.1197A>G
n.1029+3258T>C
c.1808A>G (p.Lys603Arg)
c.1451A>G (p.Lys484Arg)
n.2509A>G
 dbSNP
2g.166280505T>GCA349079755SCN1A-AS1,SCN9Ac.2195A>C (p.Lys732Thr)
c.2162A>C (p.Lys721Thr)
c.1197A>C
n.1029+3258T>G
c.1808A>C (p.Lys603Thr)
c.1451A>C (p.Lys484Thr)
n.2509A>C
 gnomAD v4
2g.166280505T=CA1304965781SCN1A-AS1,SCN9Ac.2195A= (p.Lys732=)
c.2162A= (p.Lys721=)
c.1197A=
n.1029+3258T=
c.1808A= (p.Lys603=)
c.1451A= (p.Lys484=)
n.2509A=
2g.166280506T>ACA349079756SCN1A-AS1,SCN9Ac.2194A>T (p.Lys732Ter)
c.2161A>T (p.Lys721Ter)
c.1196A>T
n.1029+3259T>A
c.1807A>T (p.Lys603Ter)
c.1450A>T (p.Lys484Ter)
n.2508A>T
 dbSNP
2g.166280506T>CCA349079757SCN1A-AS1,SCN9Ac.2194A>G (p.Lys732Glu)
c.2161A>G (p.Lys721Glu)
c.1196A>G
n.1029+3259T>C
c.1807A>G (p.Lys603Glu)
c.1450A>G (p.Lys484Glu)
n.2508A>G
2g.166280506T>GCA349079758SCN1A-AS1,SCN9Ac.2194A>C (p.Lys732Gln)
c.2161A>C (p.Lys721Gln)
c.1196A>C
n.1029+3259T>G
c.1807A>C (p.Lys603Gln)
c.1450A>C (p.Lys484Gln)
n.2508A>C
 dbSNP gnomAD v4
2g.166280506T=CA1304965784SCN1A-AS1,SCN9Ac.2194A= (p.Lys732=)
c.2161A= (p.Lys721=)
c.1196A=
n.1029+3259T=
c.1807A= (p.Lys603=)
c.1450A= (p.Lys484=)
n.2508A=
2g.166280507T>ACA429902496SCN1A-AS1,SCN9Ac.2193A>T (p.Ile731=)
c.2160A>T (p.Ile720=)
c.1195A>T
n.1029+3260T>A
c.1806A>T (p.Ile602=)
c.1449A>T (p.Ile483=)
n.2507A>T
2g.166280507T>CCA349079759SCN1A-AS1,SCN9Ac.2193A>G (p.Ile731Met)
c.2160A>G (p.Ile720Met)
c.1195A>G
n.1029+3260T>C
c.1806A>G (p.Ile602Met)
c.1449A>G (p.Ile483Met)
n.2507A>G
 dbSNP gnomAD v3 gnomAD v4
2g.166280507T>GCA429902498SCN1A-AS1,SCN9Ac.2193A>C (p.Ile731=)
c.2160A>C (p.Ile720=)
c.1195A>C
n.1029+3260T>G
c.1806A>C (p.Ile602=)
c.1449A>C (p.Ile483=)
n.2507A>C
2g.166280507T=CA1304965786SCN1A-AS1,SCN9Ac.2193A= (p.Ile731=)
c.2160A= (p.Ile720=)
c.1195A=
n.1029+3260T=
c.1806A= (p.Ile602=)
c.1449A= (p.Ile483=)
n.2507A=
2g.166280508A=CA1304965791SCN1A-AS1,SCN9Ac.2192T= (p.Ile731=)
c.2159T= (p.Ile720=)
c.1194T=
n.1029+3261A=
c.1805T= (p.Ile602=)
c.1448T= (p.Ile483=)
n.2506T=
2g.166280508A>CCA349079760SCN1A-AS1,SCN9Ac.2192T>G (p.Ile731Arg)
c.2159T>G (p.Ile720Arg)
c.1194T>G
n.1029+3261A>C
c.1805T>G (p.Ile602Arg)
c.1448T>G (p.Ile483Arg)
n.2506T>G
2g.166280508A>GCA349079761SCN1A-AS1,SCN9Ac.2192T>C (p.Ile731Thr)
c.2159T>C (p.Ile720Thr)
c.1194T>C
n.1029+3261A>G
c.1805T>C (p.Ile602Thr)
c.1448T>C (p.Ile483Thr)
n.2506T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166280508A>TCA129149SCN1A-AS1,SCN9Ac.2192T>A (p.Ile731Lys)
c.2159T>A (p.Ile720Lys)
c.1194T>A
n.1029+3261A>T
c.1805T>A (p.Ile602Lys)
c.1448T>A (p.Ile483Lys)
n.2506T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280509T>ACA349079762SCN1A-AS1,SCN9Ac.2191A>T (p.Ile731Leu)
c.2158A>T (p.Ile720Leu)
c.1193A>T
n.1029+3262T>A
c.1804A>T (p.Ile602Leu)
c.1447A>T (p.Ile483Leu)
n.2505A>T
2g.166280509T>CCA349079763SCN1A-AS1,SCN9Ac.2191A>G (p.Ile731Val)
c.2158A>G (p.Ile720Val)
c.1193A>G
n.1029+3262T>C
c.1804A>G (p.Ile602Val)
c.1447A>G (p.Ile483Val)
n.2505A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166280509T>GCA349079764SCN1A-AS1,SCN9Ac.2191A>C (p.Ile731Leu)
c.2158A>C (p.Ile720Leu)
c.1193A>C
n.1029+3262T>G
c.1804A>C (p.Ile602Leu)
c.1447A>C (p.Ile483Leu)
n.2505A>C
2g.166280509T=CA1304965794SCN1A-AS1,SCN9Ac.2191A= (p.Ile731=)
c.2158A= (p.Ile720=)
c.1193A=
n.1029+3262T=
c.1804A= (p.Ile602=)
c.1447A= (p.Ile483=)
n.2505A=
2g.166280510C>ACA349079765SCN1A-AS1,SCN9Ac.2190G>T (p.Trp730Cys)
c.2157G>T (p.Trp719Cys)
c.1192G>T
n.1029+3263C>A
c.1803G>T (p.Trp601Cys)
c.1446G>T (p.Trp482Cys)
n.2504G>T
 gnomAD v4
2g.166280510C=CA1304965797SCN1A-AS1,SCN9Ac.2190G= (p.Trp730=)
c.2157G= (p.Trp719=)
c.1192G=
n.1029+3263C=
c.1803G= (p.Trp601=)
c.1446G= (p.Trp482=)
n.2504G=
2g.166280510C>GCA1944311SCN1A-AS1,SCN9Ac.2190G>C (p.Trp730Cys)
c.2157G>C (p.Trp719Cys)
c.1192G>C
n.1029+3263C>G
c.1803G>C (p.Trp601Cys)
c.1446G>C (p.Trp482Cys)
n.2504G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280510C>TCA349079766SCN1A-AS1,SCN9Ac.2190G>A (p.Trp730Ter)
c.2157G>A (p.Trp719Ter)
c.1192G>A
n.1029+3263C>T
c.1803G>A (p.Trp601Ter)
c.1446G>A (p.Trp482Ter)
n.2504G>A
 dbSNP COSMIC COSMIC
2g.166280511C>ACA59796663SCN1A-AS1,SCN9Ac.2189G>T (p.Trp730Leu)
c.2156G>T (p.Trp719Leu)
c.1191G>T
n.1029+3264C>A
c.1802G>T (p.Trp601Leu)
c.1445G>T (p.Trp482Leu)
n.2503G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166280511C=CA1304965801SCN1A-AS1,SCN9Ac.2189G= (p.Trp730=)
c.2156G= (p.Trp719=)
c.1191G=
n.1029+3264C=
c.1802G= (p.Trp601=)
c.1445G= (p.Trp482=)
n.2503G=
2g.166280511C>GCA349079767SCN1A-AS1,SCN9Ac.2189G>C (p.Trp730Ser)
c.2156G>C (p.Trp719Ser)
c.1191G>C
n.1029+3264C>G
c.1802G>C (p.Trp601Ser)
c.1445G>C (p.Trp482Ser)
n.2503G>C
2g.166280511C>TCA349079768SCN1A-AS1,SCN9Ac.2189G>A (p.Trp730Ter)
c.2156G>A (p.Trp719Ter)
c.1191G>A
n.1029+3264C>T
c.1802G>A (p.Trp601Ter)
c.1445G>A (p.Trp482Ter)
n.2503G>A
 gnomAD v4
2g.166280512A>CCA349079769SCN1A-AS1,SCN9Ac.2188T>G (p.Trp730Gly)
c.2155T>G (p.Trp719Gly)
c.1190T>G
n.1029+3265A>C
c.1801T>G (p.Trp601Gly)
c.1444T>G (p.Trp482Gly)
n.2502T>G
2g.166280512A>GCA349079770SCN1A-AS1,SCN9Ac.2188T>C (p.Trp730Arg)
c.2155T>C (p.Trp719Arg)
c.1190T>C
n.1029+3265A>G
c.1801T>C (p.Trp601Arg)
c.1444T>C (p.Trp482Arg)
n.2502T>C
 gnomAD v4
2g.166280512A>TCA349079771SCN1A-AS1,SCN9Ac.2188T>A (p.Trp730Arg)
c.2155T>A (p.Trp719Arg)
c.1190T>A
n.1029+3265A>T
c.1801T>A (p.Trp601Arg)
c.1444T>A (p.Trp482Arg)
n.2502T>A
2g.166280513A>CCA349079772SCN1A-AS1,SCN9Ac.2187T>G (p.Tyr729Ter)
c.2154T>G (p.Tyr718Ter)
c.1189T>G
n.1029+3266A>C
c.1800T>G (p.Tyr600Ter)
c.1443T>G (p.Tyr481Ter)
n.2501T>G
2g.166280513A>GCA429902510SCN1A-AS1,SCN9Ac.2187T>C (p.Tyr729=)
c.2154T>C (p.Tyr718=)
c.1189T>C
n.1029+3266A>G
c.1800T>C (p.Tyr600=)
c.1443T>C (p.Tyr481=)
n.2501T>C
2g.166280513A>TCA349079773SCN1A-AS1,SCN9Ac.2187T>A (p.Tyr729Ter)
c.2154T>A (p.Tyr718Ter)
c.1189T>A
n.1029+3266A>T
c.1800T>A (p.Tyr600Ter)
c.1443T>A (p.Tyr481Ter)
n.2501T>A
2g.166280514T>ACA349079774SCN1A-AS1,SCN9Ac.2186A>T (p.Tyr729Phe)
c.2153A>T (p.Tyr718Phe)
c.1188A>T
n.1029+3267T>A
c.1799A>T (p.Tyr600Phe)
c.1442A>T (p.Tyr481Phe)
n.2500A>T
2g.166280514T>CCA349079776SCN1A-AS1,SCN9Ac.2186A>G (p.Tyr729Cys)
c.2153A>G (p.Tyr718Cys)
c.1188A>G
n.1029+3267T>C
c.1799A>G (p.Tyr600Cys)
c.1442A>G (p.Tyr481Cys)
n.2500A>G
 dbSNP gnomAD v3 gnomAD v4
2g.166280514T>GCA349079775SCN1A-AS1,SCN9Ac.2186A>C (p.Tyr729Ser)
c.2153A>C (p.Tyr718Ser)
c.1188A>C
n.1029+3267T>G
c.1799A>C (p.Tyr600Ser)
c.1442A>C (p.Tyr481Ser)
n.2500A>C
2g.166280514T=CA1304965803SCN1A-AS1,SCN9Ac.2186A= (p.Tyr729=)
c.2153A= (p.Tyr718=)
c.1188A=
n.1029+3267T=
c.1799A= (p.Tyr600=)
c.1442A= (p.Tyr481=)
n.2500A=
2g.166280515A=CA1304965807SCN1A-AS1,SCN9Ac.2185T= (p.Tyr729=)
c.2152T= (p.Tyr718=)
c.1187T=
n.1029+3268A=
c.1798T= (p.Tyr600=)
c.1441T= (p.Tyr481=)
n.2499T=
2g.166280515A>CCA349079777SCN1A-AS1,SCN9Ac.2185T>G (p.Tyr729Asp)
c.2152T>G (p.Tyr718Asp)
c.1187T>G
n.1029+3268A>C
c.1798T>G (p.Tyr600Asp)
c.1441T>G (p.Tyr481Asp)
n.2499T>G
2g.166280515A>GCA349079778SCN1A-AS1,SCN9Ac.2185T>C (p.Tyr729His)
c.2152T>C (p.Tyr718His)
c.1187T>C
n.1029+3268A>G
c.1798T>C (p.Tyr600His)
c.1441T>C (p.Tyr481His)
n.2499T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166280515A>TCA1944312SCN1A-AS1,SCN9Ac.2185T>A (p.Tyr729Asn)
c.2152T>A (p.Tyr718Asn)
c.1187T>A
n.1029+3268A>T
c.1798T>A (p.Tyr600Asn)
c.1441T>A (p.Tyr481Asn)
n.2499T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166280516T>ACA429902512SCN1A-AS1,SCN9Ac.2184A>T (p.Pro728=)
c.2151A>T (p.Pro717=)
c.1186A>T
n.1029+3269T>A
c.1797A>T (p.Pro599=)
c.1440A>T (p.Pro480=)
n.2498A>T
2g.166280516T>CCA429902513SCN1A-AS1,SCN9Ac.2184A>G (p.Pro728=)
c.2151A>G (p.Pro717=)
c.1186A>G
n.1029+3269T>C
c.1797A>G (p.Pro599=)
c.1440A>G (p.Pro480=)
n.2498A>G
 COSMIC COSMIC
2g.166280516T>GCA429902514SCN1A-AS1,SCN9Ac.2184A>C (p.Pro728=)
c.2151A>C (p.Pro717=)
c.1186A>C
n.1029+3269T>G
c.1797A>C (p.Pro599=)
c.1440A>C (p.Pro480=)
n.2498A>C
 gnomAD v4
2g.166280517G>ACA349079779SCN1A-AS1,SCN9Ac.2183C>T (p.Pro728Leu)
c.2150C>T (p.Pro717Leu)
c.1185C>T
n.1029+3270G>A
c.1796C>T (p.Pro599Leu)
c.1439C>T (p.Pro480Leu)
n.2497C>T
 gnomAD v4
2g.166280517G>CCA349079781SCN1A-AS1,SCN9Ac.2183C>G (p.Pro728Arg)
c.2150C>G (p.Pro717Arg)
c.1185C>G
n.1029+3270G>C
c.1796C>G (p.Pro599Arg)
c.1439C>G (p.Pro480Arg)
n.2497C>G
2g.166280517G>TCA349079780SCN1A-AS1,SCN9Ac.2183C>A (p.Pro728Gln)
c.2150C>A (p.Pro717Gln)
c.1185C>A
n.1029+3270G>T
c.1796C>A (p.Pro599Gln)
c.1439C>A (p.Pro480Gln)
n.2497C>A
 gnomAD v4
2g.166280518G>ACA59796664SCN1A-AS1,SCN9Ac.2182C>T (p.Pro728Ser)
c.2149C>T (p.Pro717Ser)
c.1184C>T
n.1029+3271G>A
c.1795C>T (p.Pro599Ser)
c.1438C>T (p.Pro480Ser)
n.2496C>T
 dbSNP gnomAD v4
2g.166280518G>CCA349079782SCN1A-AS1,SCN9Ac.2182C>G (p.Pro728Ala)
c.2149C>G (p.Pro717Ala)
c.1184C>G
n.1029+3271G>C
c.1795C>G (p.Pro599Ala)
c.1438C>G (p.Pro480Ala)
n.2496C>G
2g.166280518G=CA1304965809SCN1A-AS1,SCN9Ac.2182C= (p.Pro728=)
c.2149C= (p.Pro717=)
c.1184C=
n.1029+3271G=
c.1795C= (p.Pro599=)
c.1438C= (p.Pro480=)
n.2496C=
2g.166280518G>TCA349079783SCN1A-AS1,SCN9Ac.2182C>A (p.Pro728Thr)
c.2149C>A (p.Pro717Thr)
c.1184C>A
n.1029+3271G>T
c.1795C>A (p.Pro599Thr)
c.1438C>A (p.Pro480Thr)
n.2496C>A
 gnomAD v4
2g.166280519A>CCA429902519SCN1A-AS1,SCN9Ac.2181T>G (p.Ser727=)
c.2148T>G (p.Ser716=)
c.1183T>G
n.1029+3272A>C
c.1794T>G (p.Ser598=)
c.1437T>G (p.Ser479=)
n.2495T>G
2g.166280519A>GCA429902520SCN1A-AS1,SCN9Ac.2181T>C (p.Ser727=)
c.2148T>C (p.Ser716=)
c.1183T>C
n.1029+3272A>G
c.1794T>C (p.Ser598=)
c.1437T>C (p.Ser479=)
n.2495T>C
2g.166280519A>TCA429902521SCN1A-AS1,SCN9Ac.2181T>A (p.Ser727=)
c.2148T>A (p.Ser716=)
c.1183T>A
n.1029+3272A>T
c.1794T>A (p.Ser598=)
c.1437T>A (p.Ser479=)
n.2495T>A
2g.166280520G>ACA349079784SCN1A-AS1,SCN9Ac.2180C>T (p.Ser727Phe)
c.2147C>T (p.Ser716Phe)
c.1182C>T
n.1029+3273G>A
c.1793C>T (p.Ser598Phe)
c.1436C>T (p.Ser479Phe)
n.2494C>T
 gnomAD v4
2g.166280520G>CCA1944313SCN1A-AS1,SCN9Ac.2180C>G (p.Ser727Cys)
c.2147C>G (p.Ser716Cys)
c.1182C>G
n.1029+3273G>C
c.1793C>G (p.Ser598Cys)
c.1436C>G (p.Ser479Cys)
n.2494C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166280520G=CA1304965811SCN1A-AS1,SCN9Ac.2180C= (p.Ser727=)
c.2147C= (p.Ser716=)
c.1182C=
n.1029+3273G=
c.1793C= (p.Ser598=)
c.1436C= (p.Ser479=)
n.2494C=
2g.166280520G>TCA349079785SCN1A-AS1,SCN9Ac.2180C>A (p.Ser727Tyr)
c.2147C>A (p.Ser716Tyr)
c.1182C>A
n.1029+3273G>T
c.1793C>A (p.Ser598Tyr)
c.1436C>A (p.Ser479Tyr)
n.2494C>A
 gnomAD v4
2g.166280521A>CCA349079786SCN1A-AS1,SCN9Ac.2179T>G (p.Ser727Ala)
c.2146T>G (p.Ser716Ala)
c.1181T>G
n.1029+3274A>C
c.1792T>G (p.Ser598Ala)
c.1435T>G (p.Ser479Ala)
n.2493T>G
2g.166280521A>GCA349079787SCN1A-AS1,SCN9Ac.2179T>C (p.Ser727Pro)
c.2146T>C (p.Ser716Pro)
c.1181T>C
n.1029+3274A>G
c.1792T>C (p.Ser598Pro)
c.1435T>C (p.Ser479Pro)
n.2493T>C
2g.166280521A>TCA349079788SCN1A-AS1,SCN9Ac.2179T>A (p.Ser727Thr)
c.2146T>A (p.Ser716Thr)
c.1181T>A
n.1029+3274A>T
c.1792T>A (p.Ser598Thr)
c.1435T>A (p.Ser479Thr)
n.2493T>A
 gnomAD v4
2g.166280522G>ACA1944314SCN1A-AS1,SCN9Ac.2178C>T (p.Cys726=)
c.2145C>T (p.Cys715=)
c.1180C>T
n.1029+3275G>A
c.1791C>T (p.Cys597=)
c.1434C>T (p.Cys478=)
n.2492C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166280522G>CCA349079790SCN1A-AS1,SCN9Ac.2178C>G (p.Cys726Trp)
c.2145C>G (p.Cys715Trp)
c.1180C>G
n.1029+3275G>C
c.1791C>G (p.Cys597Trp)
c.1434C>G (p.Cys478Trp)
n.2492C>G
2g.166280522G=CA1304965812SCN1A-AS1,SCN9Ac.2178C= (p.Cys726=)
c.2145C= (p.Cys715=)
c.1180C=
n.1029+3275G=
c.1791C= (p.Cys597=)
c.1434C= (p.Cys478=)
n.2492C=
2g.166280522G>TCA349079789SCN1A-AS1,SCN9Ac.2178C>A (p.Cys726Ter)
c.2145C>A (p.Cys715Ter)
c.1180C>A
n.1029+3275G>T
c.1791C>A (p.Cys597Ter)
c.1434C>A (p.Cys478Ter)
n.2492C>A
 dbSNP gnomAD v4
2g.166280523C>ACA349079791SCN1A-AS1,SCN9Ac.2177G>T (p.Cys726Phe)
c.2144G>T (p.Cys715Phe)
c.1179G>T
n.1029+3276C>A
c.1790G>T (p.Cys597Phe)
c.1433G>T (p.Cys478Phe)
n.2491G>T
 gnomAD v4
2g.166280523C>GCA349079792SCN1A-AS1,SCN9Ac.2177G>C (p.Cys726Ser)
c.2144G>C (p.Cys715Ser)
c.1179G>C
n.1029+3276C>G
c.1790G>C (p.Cys597Ser)
c.1433G>C (p.Cys478Ser)
n.2491G>C
2g.166280523C>TCA349079793SCN1A-AS1,SCN9Ac.2177G>A (p.Cys726Tyr)
c.2144G>A (p.Cys715Tyr)
c.1179G>A
n.1029+3276C>T
c.1790G>A (p.Cys597Tyr)
c.1433G>A (p.Cys478Tyr)
n.2491G>A
 gnomAD v4
2g.166280524A>CCA349079794SCN1A-AS1,SCN9Ac.2176T>G (p.Cys726Gly)
c.2143T>G (p.Cys715Gly)
c.1178T>G
n.1029+3277A>C
c.1789T>G (p.Cys597Gly)
c.1432T>G (p.Cys478Gly)
n.2490T>G
2g.166280524A>GCA349079795SCN1A-AS1,SCN9Ac.2176T>C (p.Cys726Arg)
c.2143T>C (p.Cys715Arg)
c.1178T>C
n.1029+3277A>G
c.1789T>C (p.Cys597Arg)
c.1432T>C (p.Cys478Arg)
n.2490T>C
 gnomAD v4
2g.166280524A>TCA349079796SCN1A-AS1,SCN9Ac.2176T>A (p.Cys726Ser)
c.2143T>A (p.Cys715Ser)
c.1178T>A
n.1029+3277A>T
c.1789T>A (p.Cys597Ser)
c.1432T>A (p.Cys478Ser)
n.2490T>A
2g.166280525A>CCA349079797SCN1A-AS1,SCN9Ac.2175T>G (p.Asn725Lys)
c.2142T>G (p.Asn714Lys)
c.1177T>G
n.1029+3278A>C
c.1788T>G (p.Asn596Lys)
c.1431T>G (p.Asn477Lys)
n.2489T>G
2g.166280525A>GCA429902529SCN1A-AS1,SCN9Ac.2175T>C (p.Asn725=)
c.2142T>C (p.Asn714=)
c.1177T>C
n.1029+3278A>G
c.1788T>C (p.Asn596=)
c.1431T>C (p.Asn477=)
n.2489T>C
 gnomAD v4
2g.166280525A>TCA349079798SCN1A-AS1,SCN9Ac.2175T>A (p.Asn725Lys)
c.2142T>A (p.Asn714Lys)
c.1177T>A
n.1029+3278A>T
c.1788T>A (p.Asn596Lys)
c.1431T>A (p.Asn477Lys)
n.2489T>A
 ClinVar gnomAD v4
2g.166280526T>ACA349079799SCN1A-AS1,SCN9Ac.2174A>T (p.Asn725Ile)
c.2141A>T (p.Asn714Ile)
c.1176A>T
n.1029+3279T>A
c.1787A>T (p.Asn596Ile)
c.1430A>T (p.Asn477Ile)
n.2488A>T
2g.166280526T>CCA1944315SCN1A-AS1,SCN9Ac.2174A>G (p.Asn725Ser)
c.2141A>G (p.Asn714Ser)
c.1176A>G
n.1029+3279T>C
c.1787A>G (p.Asn596Ser)
c.1430A>G (p.Asn477Ser)
n.2488A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166280526T>GCA349079800SCN1A-AS1,SCN9Ac.2174A>C (p.Asn725Thr)
c.2141A>C (p.Asn714Thr)
c.1176A>C
n.1029+3279T>G
c.1787A>C (p.Asn596Thr)
c.1430A>C (p.Asn477Thr)
n.2488A>C
2g.166280526T=CA1304965816SCN1A-AS1,SCN9Ac.2174A= (p.Asn725=)
c.2141A= (p.Asn714=)
c.1176A=
n.1029+3279T=
c.1787A= (p.Asn596=)
c.1430A= (p.Asn477=)
n.2488A=
2g.166280527delCA2661767712SCN1A-AS1,SCN9Ac.2174del (p.Asn725IlefsTer7)
c.2141del (p.Asn714IlefsTer7)
c.1176del
n.1029+3280del
c.1787del (p.Asn596IlefsTer7)
c.1430del (p.Asn477IlefsTer7)
n.2488del
 gnomAD v4
2g.166280527T>ACA349079802SCN1A-AS1,SCN9Ac.2173A>T (p.Asn725Tyr)
c.2140A>T (p.Asn714Tyr)
c.1175A>T
n.1029+3280T>A
c.1786A>T (p.Asn596Tyr)
c.1429A>T (p.Asn477Tyr)
n.2487A>T
 gnomAD v4
2g.166280527T>CCA349079803SCN1A-AS1,SCN9Ac.2173A>G (p.Asn725Asp)
c.2140A>G (p.Asn714Asp)
c.1175A>G
n.1029+3280T>C
c.1786A>G (p.Asn596Asp)
c.1429A>G (p.Asn477Asp)
n.2487A>G
2g.166280527T>GCA349079801SCN1A-AS1,SCN9Ac.2173A>C (p.Asn725His)
c.2140A>C (p.Asn714His)
c.1175A>C
n.1029+3280T>G
c.1786A>C (p.Asn596His)
c.1429A>C (p.Asn477His)
n.2487A>C
2g.166280528C>ACA349079804SCN1A-AS1,SCN9Ac.2172G>T (p.Trp724Cys)
c.2139G>T (p.Trp713Cys)
c.1174G>T
n.1029+3281C>A
c.1785G>T (p.Trp595Cys)
c.1428G>T (p.Trp476Cys)
n.2486G>T
 gnomAD v4
2g.166280528C=CA1304965818SCN1A-AS1,SCN9Ac.2172G= (p.Trp724=)
c.2139G= (p.Trp713=)
c.1174G=
n.1029+3281C=
c.1785G= (p.Trp595=)
c.1428G= (p.Trp476=)
n.2486G=
2g.166280528C>GCA349079805SCN1A-AS1,SCN9Ac.2172G>C (p.Trp724Cys)
c.2139G>C (p.Trp713Cys)
c.1174G>C
n.1029+3281C>G
c.1785G>C (p.Trp595Cys)
c.1428G>C (p.Trp476Cys)
n.2486G>C
2g.166280528C>TCA349079806SCN1A-AS1,SCN9Ac.2172G>A (p.Trp724Ter)
c.2139G>A (p.Trp713Ter)
c.1174G>A
n.1029+3281C>T
c.1785G>A (p.Trp595Ter)
c.1428G>A (p.Trp476Ter)
n.2486G>A
 dbSNP gnomAD v4
2g.166280529delCA2661767713SCN1A-AS1,SCN9Ac.2172del (p.Trp724Ter)
c.2139del (p.Trp713Ter)
c.1174del
n.1029+3282del
c.1785del (p.Trp595Ter)
c.1428del (p.Trp476Ter)
n.2486del
 gnomAD v4
2g.166280529C>ACA349079807SCN1A-AS1,SCN9Ac.2171G>T (p.Trp724Leu)
c.2138G>T (p.Trp713Leu)
c.1173G>T
n.1029+3282C>A
c.1784G>T (p.Trp595Leu)
c.1427G>T (p.Trp476Leu)
n.2485G>T
 dbSNP gnomAD v3 gnomAD v4
2g.166280529C=CA1304965821SCN1A-AS1,SCN9Ac.2171G= (p.Trp724=)
c.2138G= (p.Trp713=)
c.1173G=
n.1029+3282C=
c.1784G= (p.Trp595=)
c.1427G= (p.Trp476=)
n.2485G=
2g.166280529C>GCA349079808SCN1A-AS1,SCN9Ac.2171G>C (p.Trp724Ser)
c.2138G>C (p.Trp713Ser)
c.1173G>C
n.1029+3282C>G
c.1784G>C (p.Trp595Ser)
c.1427G>C (p.Trp476Ser)
n.2485G>C
2g.166280529C>TCA349079809SCN1A-AS1,SCN9Ac.2171G>A (p.Trp724Ter)
c.2138G>A (p.Trp713Ter)
c.1173G>A
n.1029+3282C>T
c.1784G>A (p.Trp595Ter)
c.1427G>A (p.Trp476Ter)
n.2485G>A
 gnomAD v4
2g.166280530A>CCA349079810SCN1A-AS1,SCN9Ac.2170T>G (p.Trp724Gly)
c.2137T>G (p.Trp713Gly)
c.1172T>G
n.1029+3283A>C
c.1783T>G (p.Trp595Gly)
c.1426T>G (p.Trp476Gly)
n.2484T>G
2g.166280530A>GCA349079812SCN1A-AS1,SCN9Ac.2170T>C (p.Trp724Arg)
c.2137T>C (p.Trp713Arg)
c.1172T>C
n.1029+3283A>G
c.1783T>C (p.Trp595Arg)
c.1426T>C (p.Trp476Arg)
n.2484T>C
 gnomAD v4
2g.166280530A>TCA349079811SCN1A-AS1,SCN9Ac.2170T>A (p.Trp724Arg)
c.2137T>A (p.Trp713Arg)
c.1172T>A
n.1029+3283A>T
c.1783T>A (p.Trp595Arg)
c.1426T>A (p.Trp476Arg)
n.2484T>A
2g.166280531G>ACA59796683SCN1A-AS1,SCN9Ac.2169C>T (p.Ile723=)
c.2136C>T (p.Ile712=)
c.1171C>T
n.1029+3284G>A
c.1782C>T (p.Ile594=)
c.1425C>T (p.Ile475=)
n.2483C>T
 dbSNP gnomAD v4
2g.166280531G>CCA349079813SCN1A-AS1,SCN9Ac.2169C>G (p.Ile723Met)
c.2136C>G (p.Ile712Met)
c.1171C>G
n.1029+3284G>C
c.1782C>G (p.Ile594Met)
c.1425C>G (p.Ile475Met)
n.2483C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166280531G=CA1304965825SCN1A-AS1,SCN9Ac.2169C= (p.Ile723=)
c.2136C= (p.Ile712=)
c.1171C=
n.1029+3284G=
c.1782C= (p.Ile594=)
c.1425C= (p.Ile475=)
n.2483C=
2g.166280531G>TCA429902539SCN1A-AS1,SCN9Ac.2169C>A (p.Ile723=)
c.2136C>A (p.Ile712=)
c.1171C>A
n.1029+3284G>T
c.1782C>A (p.Ile594=)
c.1425C>A (p.Ile475=)
n.2483C>A
 gnomAD v4
2g.166280532A=CA1304965830SCN1A-AS1,SCN9Ac.2168T= (p.Ile723=)
c.2135T= (p.Ile712=)
c.1170T=
n.1029+3285A=
c.1781T= (p.Ile594=)
c.1424T= (p.Ile475=)
n.2482T=
2g.166280532A>CCA349079814SCN1A-AS1,SCN9Ac.2168T>G (p.Ile723Ser)
c.2135T>G (p.Ile712Ser)
c.1170T>G
n.1029+3285A>C
c.1781T>G (p.Ile594Ser)
c.1424T>G (p.Ile475Ser)
n.2482T>G
2g.166280532A>GCA349079815SCN1A-AS1,SCN9Ac.2168T>C (p.Ile723Thr)
c.2135T>C (p.Ile712Thr)
c.1170T>C
n.1029+3285A>G
c.1781T>C (p.Ile594Thr)
c.1424T>C (p.Ile475Thr)
n.2482T>C
 gnomAD v4
2g.166280532A>TCA349079816SCN1A-AS1,SCN9Ac.2168T>A (p.Ile723Asn)
c.2135T>A (p.Ile712Asn)
c.1170T>A
n.1029+3285A>T
c.1781T>A (p.Ile594Asn)
c.1424T>A (p.Ile475Asn)
n.2482T>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166280533T>ACA349079817SCN1A-AS1,SCN9Ac.2167A>T (p.Ile723Phe)
c.2134A>T (p.Ile712Phe)
c.1169A>T
n.1029+3286T>A
c.1780A>T (p.Ile594Phe)
c.1423A>T (p.Ile475Phe)
n.2481A>T
2g.166280533T>CCA349079819SCN1A-AS1,SCN9Ac.2167A>G (p.Ile723Val)
c.2134A>G (p.Ile712Val)
c.1169A>G
n.1029+3286T>C
c.1780A>G (p.Ile594Val)
c.1423A>G (p.Ile475Val)
n.2481A>G
2g.166280533T>GCA349079818SCN1A-AS1,SCN9Ac.2167A>C (p.Ile723Leu)
c.2134A>C (p.Ile712Leu)
c.1169A>C
n.1029+3286T>G
c.1780A>C (p.Ile594Leu)
c.1423A>C (p.Ile475Leu)
n.2481A>C
2g.166280534C>ACA349079820SCN1A-AS1,SCN9Ac.2166G>T (p.Leu722Phe)
c.2133G>T (p.Leu711Phe)
c.1168G>T
n.1029+3287C>A
c.1779G>T (p.Leu593Phe)
c.1422G>T (p.Leu474Phe)
n.2480G>T
2g.166280534C=CA1304965834SCN1A-AS1,SCN9Ac.2166G= (p.Leu722=)
c.2133G= (p.Leu711=)
c.1168G=
n.1029+3287C=
c.1779G= (p.Leu593=)
c.1422G= (p.Leu474=)
n.2480G=
2g.166280534C>GCA1944316SCN1A-AS1,SCN9Ac.2166G>C (p.Leu722Phe)
c.2133G>C (p.Leu711Phe)
c.1168G>C
n.1029+3287C>G
c.1779G>C (p.Leu593Phe)
c.1422G>C (p.Leu474Phe)
n.2480G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280534C>TCA429902544SCN1A-AS1,SCN9Ac.2166G>A (p.Leu722=)
c.2133G>A (p.Leu711=)
c.1168G>A
n.1029+3287C>T
c.1779G>A (p.Leu593=)
c.1422G>A (p.Leu474=)
n.2480G>A
 gnomAD v4
2g.166280535A=CA1304965838SCN1A-AS1,SCN9Ac.2165T= (p.Leu722=)
c.2132T= (p.Leu711=)
c.1167T=
n.1029+3288A=
c.1778T= (p.Leu593=)
c.1421T= (p.Leu474=)
n.2479T=
2g.166280535A>CCA349079821SCN1A-AS1,SCN9Ac.2165T>G (p.Leu722Trp)
c.2132T>G (p.Leu711Trp)
c.1167T>G
n.1029+3288A>C
c.1778T>G (p.Leu593Trp)
c.1421T>G (p.Leu474Trp)
n.2479T>G
2g.166280535A>GCA1944317SCN1A-AS1,SCN9Ac.2165T>C (p.Leu722Ser)
c.2132T>C (p.Leu711Ser)
c.1167T>C
n.1029+3288A>G
c.1778T>C (p.Leu593Ser)
c.1421T>C (p.Leu474Ser)
n.2479T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280535A>TCA349079822SCN1A-AS1,SCN9Ac.2165T>A (p.Leu722Ter)
c.2132T>A (p.Leu711Ter)
c.1167T>A
n.1029+3288A>T
c.1778T>A (p.Leu593Ter)
c.1421T>A (p.Leu474Ter)
n.2479T>A
 dbSNP
2g.166280536A=CA1304965840SCN1A-AS1,SCN9Ac.2164T= (p.Leu722=)
c.2131T= (p.Leu711=)
c.1166T=
n.1029+3289A=
c.1777T= (p.Leu593=)
c.1420T= (p.Leu474=)
n.2478T=
2g.166280536A>CCA349079823SCN1A-AS1,SCN9Ac.2164T>G (p.Leu722Val)
c.2131T>G (p.Leu711Val)
c.1166T>G
n.1029+3289A>C
c.1777T>G (p.Leu593Val)
c.1420T>G (p.Leu474Val)
n.2478T>G
 dbSNP COSMIC COSMIC
2g.166280536A>GCA429902546SCN1A-AS1,SCN9Ac.2164T>C (p.Leu722=)
c.2131T>C (p.Leu711=)
c.1166T>C
n.1029+3289A>G
c.1777T>C (p.Leu593=)
c.1420T>C (p.Leu474=)
n.2478T>C
2g.166280536A>TCA349079824SCN1A-AS1,SCN9Ac.2164T>A (p.Leu722Met)
c.2131T>A (p.Leu711Met)
c.1166T>A
n.1029+3289A>T
c.1777T>A (p.Leu593Met)
c.1420T>A (p.Leu474Met)
n.2478T>A
2g.166280537G>ACA429902547SCN1A-AS1,SCN9Ac.2163C>T (p.Phe721=)
c.2130C>T (p.Phe710=)
c.1165C>T
n.1029+3290G>A
c.1776C>T (p.Phe592=)
c.1419C>T (p.Phe473=)
n.2477C>T
 dbSNP gnomAD v4
2g.166280537G>CCA349079825SCN1A-AS1,SCN9Ac.2163C>G (p.Phe721Leu)
c.2130C>G (p.Phe710Leu)
c.1165C>G
n.1029+3290G>C
c.1776C>G (p.Phe592Leu)
c.1419C>G (p.Phe473Leu)
n.2477C>G
2g.166280537G=CA1304965844SCN1A-AS1,SCN9Ac.2163C= (p.Phe721=)
c.2130C= (p.Phe710=)
c.1165C=
n.1029+3290G=
c.1776C= (p.Phe592=)
c.1419C= (p.Phe473=)
n.2477C=
2g.166280537G>TCA349079826SCN1A-AS1,SCN9Ac.2163C>A (p.Phe721Leu)
c.2130C>A (p.Phe710Leu)
c.1165C>A
n.1029+3290G>T
c.1776C>A (p.Phe592Leu)
c.1419C>A (p.Phe473Leu)
n.2477C>A
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2g.166280538A>CCA349079827SCN1A-AS1,SCN9Ac.2162T>G (p.Phe721Cys)
c.2129T>G (p.Phe710Cys)
c.1164T>G
n.1029+3291A>C
c.1775T>G (p.Phe592Cys)
c.1418T>G (p.Phe473Cys)
n.2476T>G
2g.166280538A>GCA349079828SCN1A-AS1,SCN9Ac.2162T>C (p.Phe721Ser)
c.2129T>C (p.Phe710Ser)
c.1164T>C
n.1029+3291A>G
c.1775T>C (p.Phe592Ser)
c.1418T>C (p.Phe473Ser)
n.2476T>C
2g.166280538A>TCA349079829SCN1A-AS1,SCN9Ac.2162T>A (p.Phe721Tyr)
c.2129T>A (p.Phe710Tyr)
c.1164T>A
n.1029+3291A>T
c.1775T>A (p.Phe592Tyr)
c.1418T>A (p.Phe473Tyr)
n.2476T>A
 gnomAD v4
2g.166280539A=CA1304965847SCN1A-AS1,SCN9Ac.2161T= (p.Phe721=)
c.2128T= (p.Phe710=)
c.1163T=
n.1029+3292A=
c.1774T= (p.Phe592=)
c.1417T= (p.Phe473=)
n.2475T=
2g.166280539A>CCA1944318SCN1A-AS1,SCN9Ac.2161T>G (p.Phe721Val)
c.2128T>G (p.Phe710Val)
c.1163T>G
n.1029+3292A>C
c.1774T>G (p.Phe592Val)
c.1417T>G (p.Phe473Val)
n.2475T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280539A>GCA349079831SCN1A-AS1,SCN9Ac.2161T>C (p.Phe721Leu)
c.2128T>C (p.Phe710Leu)
c.1163T>C
n.1029+3292A>G
c.1774T>C (p.Phe592Leu)
c.1417T>C (p.Phe473Leu)
n.2475T>C
 COSMIC COSMIC
2g.166280539A>TCA349079830SCN1A-AS1,SCN9Ac.2161T>A (p.Phe721Ile)
c.2128T>A (p.Phe710Ile)
c.1163T>A
n.1029+3292A>T
c.1774T>A (p.Phe592Ile)
c.1417T>A (p.Phe473Ile)
n.2475T>A
2g.166280540T>ACA349079833SCN1A-AS1,SCN9Ac.2160A>T (p.Lys720Asn)
c.2127A>T (p.Lys709Asn)
c.1162A>T
n.1029+3293T>A
c.1773A>T (p.Lys591Asn)
c.1416A>T (p.Lys472Asn)
n.2474A>T
2g.166280540T>CCA429902554SCN1A-AS1,SCN9Ac.2160A>G (p.Lys720=)
c.2127A>G (p.Lys709=)
c.1162A>G
n.1029+3293T>C
c.1773A>G (p.Lys591=)
c.1416A>G (p.Lys472=)
n.2474A>G
2g.166280540T>GCA349079832SCN1A-AS1,SCN9Ac.2160A>C (p.Lys720Asn)
c.2127A>C (p.Lys709Asn)
c.1162A>C
n.1029+3293T>G
c.1773A>C (p.Lys591Asn)
c.1416A>C (p.Lys472Asn)
n.2474A>C
2g.166280541T>ACA349079834SCN1A-AS1,SCN9Ac.2159A>T (p.Lys720Ile)
c.2126A>T (p.Lys709Ile)
c.1161A>T
n.1029+3294T>A
c.1772A>T (p.Lys591Ile)
c.1415A>T (p.Lys472Ile)
n.2473A>T
2g.166280541T>CCA349079835SCN1A-AS1,SCN9Ac.2159A>G (p.Lys720Arg)
c.2126A>G (p.Lys709Arg)
c.1161A>G
n.1029+3294T>C
c.1772A>G (p.Lys591Arg)
c.1415A>G (p.Lys472Arg)
n.2473A>G
 gnomAD v4
2g.166280541T>GCA349079836SCN1A-AS1,SCN9Ac.2159A>C (p.Lys720Thr)
c.2126A>C (p.Lys709Thr)
c.1161A>C
n.1029+3294T>G
c.1772A>C (p.Lys591Thr)
c.1415A>C (p.Lys472Thr)
n.2473A>C
 COSMIC COSMIC
2g.166280542T>ACA349079837SCN1A-AS1,SCN9Ac.2158A>T (p.Lys720Ter)
c.2125A>T (p.Lys709Ter)
c.1160A>T
n.1029+3295T>A
c.1771A>T (p.Lys591Ter)
c.1414A>T (p.Lys472Ter)
n.2472A>T
 dbSNP
2g.166280542T>CCA349079838SCN1A-AS1,SCN9Ac.2158A>G (p.Lys720Glu)
c.2125A>G (p.Lys709Glu)
c.1160A>G
n.1029+3295T>C
c.1771A>G (p.Lys591Glu)
c.1414A>G (p.Lys472Glu)
n.2472A>G
 gnomAD v4 COSMIC COSMIC
2g.166280542T>GCA349079839SCN1A-AS1,SCN9Ac.2158A>C (p.Lys720Gln)
c.2125A>C (p.Lys709Gln)
c.1160A>C
n.1029+3295T>G
c.1771A>C (p.Lys591Gln)
c.1414A>C (p.Lys472Gln)
n.2472A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166280542T=CA1304965850SCN1A-AS1,SCN9Ac.2158A= (p.Lys720=)
c.2125A= (p.Lys709=)
c.1160A=
n.1029+3295T=
c.1771A= (p.Lys591=)
c.1414A= (p.Lys472=)
n.2472A=
2g.166280543G>ACA429902556SCN1A-AS1,SCN9Ac.2157C>T (p.His719=)
c.2124C>T (p.His708=)
c.1159C>T
n.1029+3296G>A
c.1770C>T (p.His590=)
c.1413C>T (p.His471=)
n.2471C>T
 gnomAD v4
2g.166280543G>CCA349079840SCN1A-AS1,SCN9Ac.2157C>G (p.His719Gln)
c.2124C>G (p.His708Gln)
c.1159C>G
n.1029+3296G>C
c.1770C>G (p.His590Gln)
c.1413C>G (p.His471Gln)
n.2471C>G
 dbSNP
2g.166280543G=CA1304965853SCN1A-AS1,SCN9Ac.2157C= (p.His719=)
c.2124C= (p.His708=)
c.1159C=
n.1029+3296G=
c.1770C= (p.His590=)
c.1413C= (p.His471=)
n.2471C=
2g.166280543G>TCA349079841SCN1A-AS1,SCN9Ac.2157C>A (p.His719Gln)
c.2124C>A (p.His708Gln)
c.1159C>A
n.1029+3296G>T
c.1770C>A (p.His590Gln)
c.1413C>A (p.His471Gln)
n.2471C>A
2g.166280544T>ACA349079842SCN1A-AS1,SCN9Ac.2156A>T (p.His719Leu)
c.2123A>T (p.His708Leu)
c.1158A>T
n.1029+3297T>A
c.1769A>T (p.His590Leu)
c.1412A>T (p.His471Leu)
n.2470A>T
 gnomAD v4
2g.166280544T>CCA349079843SCN1A-AS1,SCN9Ac.2156A>G (p.His719Arg)
c.2123A>G (p.His708Arg)
c.1158A>G
n.1029+3297T>C
c.1769A>G (p.His590Arg)
c.1412A>G (p.His471Arg)
n.2470A>G
 gnomAD v4
2g.166280544T>GCA349079844SCN1A-AS1,SCN9Ac.2156A>C (p.His719Pro)
c.2123A>C (p.His708Pro)
c.1158A>C
n.1029+3297T>G
c.1769A>C (p.His590Pro)
c.1412A>C (p.His471Pro)
n.2470A>C
2g.166280545G>ACA349079847SCN1A-AS1,SCN9Ac.2155C>T (p.His719Tyr)
c.2122C>T (p.His708Tyr)
c.1157C>T
n.1029+3298G>A
c.1768C>T (p.His590Tyr)
c.1411C>T (p.His471Tyr)
n.2469C>T
 ClinVar dbSNP gnomAD v4
2g.166280545G>CCA349079845SCN1A-AS1,SCN9Ac.2155C>G (p.His719Asp)
c.2122C>G (p.His708Asp)
c.1157C>G
n.1029+3298G>C
c.1768C>G (p.His590Asp)
c.1411C>G (p.His471Asp)
n.2469C>G
2g.166280545G=CA1304965857SCN1A-AS1,SCN9Ac.2155C= (p.His719=)
c.2122C= (p.His708=)
c.1157C=
n.1029+3298G=
c.1768C= (p.His590=)
c.1411C= (p.His471=)
n.2469C=
2g.166280545G>TCA349079846SCN1A-AS1,SCN9Ac.2155C>A (p.His719Asn)
c.2122C>A (p.His708Asn)
c.1157C>A
n.1029+3298G>T
c.1768C>A (p.His590Asn)
c.1411C>A (p.His471Asn)
n.2469C>A
 gnomAD v4
2g.166280546T>ACA429902566SCN1A-AS1,SCN9Ac.2154A>T (p.Ala718=)
c.2121A>T (p.Ala707=)
c.1156A>T
n.1029+3299T>A
c.1767A>T (p.Ala589=)
c.1410A>T (p.Ala470=)
n.2468A>T
2g.166280546T>CCA1944319SCN1A-AS1,SCN9Ac.2154A>G (p.Ala718=)
c.2121A>G (p.Ala707=)
c.1156A>G
n.1029+3299T>C
c.1767A>G (p.Ala589=)
c.1410A>G (p.Ala470=)
n.2468A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280546T>GCA429902569SCN1A-AS1,SCN9Ac.2154A>C (p.Ala718=)
c.2121A>C (p.Ala707=)
c.1156A>C
n.1029+3299T>G
c.1767A>C (p.Ala589=)
c.1410A>C (p.Ala470=)
n.2468A>C
2g.166280546T=CA1304965861SCN1A-AS1,SCN9Ac.2154A= (p.Ala718=)
c.2121A= (p.Ala707=)
c.1156A=
n.1029+3299T=
c.1767A= (p.Ala589=)
c.1410A= (p.Ala470=)
n.2468A=
2g.166280547G>ACA349079848SCN1A-AS1,SCN9Ac.2153C>T (p.Ala718Val)
c.2120C>T (p.Ala707Val)
c.1155C>T
n.1029+3300G>A
c.1766C>T (p.Ala589Val)
c.1409C>T (p.Ala470Val)
n.2467C>T
 gnomAD v4
2g.166280547G>CCA349079849SCN1A-AS1,SCN9Ac.2153C>G (p.Ala718Gly)
c.2120C>G (p.Ala707Gly)
c.1155C>G
n.1029+3300G>C
c.1766C>G (p.Ala589Gly)
c.1409C>G (p.Ala470Gly)
n.2467C>G
2g.166280547G>TCA349079850SCN1A-AS1,SCN9Ac.2153C>A (p.Ala718Glu)
c.2120C>A (p.Ala707Glu)
c.1155C>A
n.1029+3300G>T
c.1766C>A (p.Ala589Glu)
c.1409C>A (p.Ala470Glu)
n.2467C>A
 ClinVar dbSNP gnomAD v4
2g.166280548C>ACA349079851SCN1A-AS1,SCN9Ac.2152G>T (p.Ala718Ser)
c.2119G>T (p.Ala707Ser)
c.1154G>T
n.1029+3301C>A
c.1765G>T (p.Ala589Ser)
c.1408G>T (p.Ala470Ser)
n.2466G>T
 ClinVar gnomAD v4
2g.166280548C=CA1304965864SCN1A-AS1,SCN9Ac.2152G= (p.Ala718=)
c.2119G= (p.Ala707=)
c.1154G=
n.1029+3301C=
c.1765G= (p.Ala589=)
c.1408G= (p.Ala470=)
n.2466G=
2g.166280548C>GCA349079852SCN1A-AS1,SCN9Ac.2152G>C (p.Ala718Pro)
c.2119G>C (p.Ala707Pro)
c.1154G>C
n.1029+3301C>G
c.1765G>C (p.Ala589Pro)
c.1408G>C (p.Ala470Pro)
n.2466G>C
2g.166280548C>TCA349079853SCN1A-AS1,SCN9Ac.2152G>A (p.Ala718Thr)
c.2119G>A (p.Ala707Thr)
c.1154G>A
n.1029+3301C>T
c.1765G>A (p.Ala589Thr)
c.1408G>A (p.Ala470Thr)
n.2466G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166280549A>CCA349079854SCN1A-AS1,SCN9Ac.2151T>G (p.Phe717Leu)
c.2118T>G (p.Phe706Leu)
c.1153T>G
n.1029+3302A>C
c.1764T>G (p.Phe588Leu)
c.1407T>G (p.Phe469Leu)
n.2465T>G
2g.166280549A>GCA429902574SCN1A-AS1,SCN9Ac.2151T>C (p.Phe717=)
c.2118T>C (p.Phe706=)
c.1153T>C
n.1029+3302A>G
c.1764T>C (p.Phe588=)
c.1407T>C (p.Phe469=)
n.2465T>C
 gnomAD v4
2g.166280549A>TCA349079855SCN1A-AS1,SCN9Ac.2151T>A (p.Phe717Leu)
c.2118T>A (p.Phe706Leu)
c.1153T>A
n.1029+3302A>T
c.1764T>A (p.Phe588Leu)
c.1407T>A (p.Phe469Leu)
n.2465T>A
2g.166280550A=CA1304965872SCN1A-AS1,SCN9Ac.2150T= (p.Phe717=)
c.2117T= (p.Phe706=)
c.1152T=
n.1029+3303A=
c.1763T= (p.Phe588=)
c.1406T= (p.Phe469=)
n.2464T=
2g.166280550A>CCA349079856SCN1A-AS1,SCN9Ac.2150T>G (p.Phe717Cys)
c.2117T>G (p.Phe706Cys)
c.1152T>G
n.1029+3303A>C
c.1763T>G (p.Phe588Cys)
c.1406T>G (p.Phe469Cys)
n.2464T>G
2g.166280550A>GCA1944320SCN1A-AS1,SCN9Ac.2150T>C (p.Phe717Ser)
c.2117T>C (p.Phe706Ser)
c.1152T>C
n.1029+3303A>G
c.1763T>C (p.Phe588Ser)
c.1406T>C (p.Phe469Ser)
n.2464T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280550A>TCA349079857SCN1A-AS1,SCN9Ac.2150T>A (p.Phe717Tyr)
c.2117T>A (p.Phe706Tyr)
c.1152T>A
n.1029+3303A>T
c.1763T>A (p.Phe588Tyr)
c.1406T>A (p.Phe469Tyr)
n.2464T>A
2g.166280551A>CCA349079859SCN1A-AS1,SCN9Ac.2149T>G (p.Phe717Val)
c.2116T>G (p.Phe706Val)
c.1151T>G
n.1029+3304A>C
c.1762T>G (p.Phe588Val)
c.1405T>G (p.Phe469Val)
n.2463T>G
2g.166280551A>GCA349079860SCN1A-AS1,SCN9Ac.2149T>C (p.Phe717Leu)
c.2116T>C (p.Phe706Leu)
c.1151T>C
n.1029+3304A>G
c.1762T>C (p.Phe588Leu)
c.1405T>C (p.Phe469Leu)
n.2463T>C
2g.166280551A>TCA349079858SCN1A-AS1,SCN9Ac.2149T>A (p.Phe717Ile)
c.2116T>A (p.Phe706Ile)
c.1151T>A
n.1029+3304A>T
c.1762T>A (p.Phe588Ile)
c.1405T>A (p.Phe469Ile)
n.2463T>A
2g.166280552T>ACA349079861SCN1A-AS1,SCN9Ac.2148A>T (p.Arg716Ser)
c.2115A>T (p.Arg705Ser)
c.1150A>T
n.1029+3305T>A
c.1761A>T (p.Arg587Ser)
c.1404A>T (p.Arg468Ser)
n.2462A>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166280552T>CCA429902583SCN1A-AS1,SCN9Ac.2148A>G (p.Arg716=)
c.2115A>G (p.Arg705=)
c.1150A>G
n.1029+3305T>C
c.1761A>G (p.Arg587=)
c.1404A>G (p.Arg468=)
n.2462A>G
2g.166280552T>GCA349079862SCN1A-AS1,SCN9Ac.2148A>C (p.Arg716Ser)
c.2115A>C (p.Arg705Ser)
c.1150A>C
n.1029+3305T>G
c.1761A>C (p.Arg587Ser)
c.1404A>C (p.Arg468Ser)
n.2462A>C
2g.166280552T=CA1304965874SCN1A-AS1,SCN9Ac.2148A= (p.Arg716=)
c.2115A= (p.Arg705=)
c.1150A=
n.1029+3305T=
c.1761A= (p.Arg587=)
c.1404A= (p.Arg468=)
n.2462A=
2g.166280553C>ACA349079864SCN1A-AS1,SCN9Ac.2147G>T (p.Arg716Ile)
c.2114G>T (p.Arg705Ile)
c.1149G>T
n.1029+3306C>A
c.1760G>T (p.Arg587Ile)
c.1403G>T (p.Arg468Ile)
n.2461G>T
 gnomAD v4
2g.166280553C=CA1304965878SCN1A-AS1,SCN9Ac.2147G= (p.Arg716=)
c.2114G= (p.Arg705=)
c.1149G=
n.1029+3306C=
c.1760G= (p.Arg587=)
c.1403G= (p.Arg468=)
n.2461G=
2g.166280553C>GCA349079865SCN1A-AS1,SCN9Ac.2147G>C (p.Arg716Thr)
c.2114G>C (p.Arg705Thr)
c.1149G>C
n.1029+3306C>G
c.1760G>C (p.Arg587Thr)
c.1403G>C (p.Arg468Thr)
n.2461G>C
 gnomAD v4
2g.166280553C>TCA349079867SCN1A-AS1,SCN9Ac.2147G>A (p.Arg716Lys)
c.2114G>A (p.Arg705Lys)
c.1149G>A
n.1029+3306C>T
c.1760G>A (p.Arg587Lys)
c.1403G>A (p.Arg468Lys)
n.2461G>A
 ClinVar dbSNP COSMIC COSMIC
2g.166280554T>ACA349079868SCN1A-AS1,SCN9Ac.2146A>T (p.Arg716Ter)
c.2113A>T (p.Arg705Ter)
c.1148A>T
n.1029+3307T>A
c.1759A>T (p.Arg587Ter)
c.1402A>T (p.Arg468Ter)
n.2460A>T
 dbSNP gnomAD v4
2g.166280554T>CCA349079870SCN1A-AS1,SCN9Ac.2146A>G (p.Arg716Gly)
c.2113A>G (p.Arg705Gly)
c.1148A>G
n.1029+3307T>C
c.1759A>G (p.Arg587Gly)
c.1402A>G (p.Arg468Gly)
n.2460A>G
 gnomAD v4
2g.166280554T>GCA429902600SCN1A-AS1,SCN9Ac.2146A>C (p.Arg716=)
c.2113A>C (p.Arg705=)
c.1148A>C
n.1029+3307T>G
c.1759A>C (p.Arg587=)
c.1402A>C (p.Arg468=)
n.2460A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166280554T=CA1304965883SCN1A-AS1,SCN9Ac.2146A= (p.Arg716=)
c.2113A= (p.Arg705=)
c.1148A=
n.1029+3307T=
c.1759A= (p.Arg587=)
c.1402A= (p.Arg468=)
n.2460A=
2g.166280555G>ACA429902603SCN1A-AS1,SCN9Ac.2145C>T (p.Tyr715=)
c.2112C>T (p.Tyr704=)
c.1147C>T
n.1029+3308G>A
c.1758C>T (p.Tyr586=)
c.1401C>T (p.Tyr467=)
n.2459C>T
 gnomAD v4
2g.166280555G>CCA349079872SCN1A-AS1,SCN9Ac.2145C>G (p.Tyr715Ter)
c.2112C>G (p.Tyr704Ter)
c.1147C>G
n.1029+3308G>C
c.1758C>G (p.Tyr586Ter)
c.1401C>G (p.Tyr467Ter)
n.2459C>G
2g.166280555G>TCA349079873SCN1A-AS1,SCN9Ac.2145C>A (p.Tyr715Ter)
c.2112C>A (p.Tyr704Ter)
c.1147C>A
n.1029+3308G>T
c.1758C>A (p.Tyr586Ter)
c.1401C>A (p.Tyr467Ter)
n.2459C>A
 gnomAD v4
2g.166280556T>ACA349079875SCN1A-AS1,SCN9Ac.2144A>T (p.Tyr715Phe)
c.2111A>T (p.Tyr704Phe)
c.1146A>T
n.1029+3309T>A
c.1757A>T (p.Tyr586Phe)
c.1400A>T (p.Tyr467Phe)
n.2458A>T
2g.166280556T>CCA349079877SCN1A-AS1,SCN9Ac.2144A>G (p.Tyr715Cys)
c.2111A>G (p.Tyr704Cys)
c.1146A>G
n.1029+3309T>C
c.1757A>G (p.Tyr586Cys)
c.1400A>G (p.Tyr467Cys)
n.2458A>G
 gnomAD v4
2g.166280556T>GCA349079879SCN1A-AS1,SCN9Ac.2144A>C (p.Tyr715Ser)
c.2111A>C (p.Tyr704Ser)
c.1146A>C
n.1029+3309T>G
c.1757A>C (p.Tyr586Ser)
c.1400A>C (p.Tyr467Ser)
n.2458A>C
2g.166280557A=CA1304965888SCN1A-AS1,SCN9Ac.2143T= (p.Tyr715=)
c.2110T= (p.Tyr704=)
c.1145T=
n.1029+3310A=
c.1756T= (p.Tyr586=)
c.1399T= (p.Tyr467=)
n.2457T=
2g.166280557A>CCA349079881SCN1A-AS1,SCN9Ac.2143T>G (p.Tyr715Asp)
c.2110T>G (p.Tyr704Asp)
c.1145T>G
n.1029+3310A>C
c.1756T>G (p.Tyr586Asp)
c.1399T>G (p.Tyr467Asp)
n.2457T>G
2g.166280557A>GCA349079884SCN1A-AS1,SCN9Ac.2143T>C (p.Tyr715His)
c.2110T>C (p.Tyr704His)
c.1145T>C
n.1029+3310A>G
c.1756T>C (p.Tyr586His)
c.1399T>C (p.Tyr467His)
n.2457T>C
 dbSNP gnomAD v2 gnomAD v4
2g.166280557A>TCA349079886SCN1A-AS1,SCN9Ac.2143T>A (p.Tyr715Asn)
c.2110T>A (p.Tyr704Asn)
c.1145T>A
n.1029+3310A>T
c.1756T>A (p.Tyr586Asn)
c.1399T>A (p.Tyr467Asn)
n.2457T>A
2g.166280558C>ACA349079890SCN1A-AS1,SCN9Ac.2142G>T (p.Trp714Cys)
c.2109G>T (p.Trp703Cys)
c.1144G>T
n.1029+3311C>A
c.1755G>T (p.Trp585Cys)
c.1398G>T (p.Trp466Cys)
n.2456G>T
 gnomAD v4
2g.166280558C=CA1304965889SCN1A-AS1,SCN9Ac.2142G= (p.Trp714=)
c.2109G= (p.Trp703=)
c.1144G=
n.1029+3311C=
c.1755G= (p.Trp585=)
c.1398G= (p.Trp466=)
n.2456G=
2g.166280558C>GCA349079896SCN1A-AS1,SCN9Ac.2142G>C (p.Trp714Cys)
c.2109G>C (p.Trp703Cys)
c.1144G>C
n.1029+3311C>G
c.1755G>C (p.Trp585Cys)
c.1398G>C (p.Trp466Cys)
n.2456G>C
 gnomAD v4
2g.166280558C>TCA349079893SCN1A-AS1,SCN9Ac.2142G>A (p.Trp714Ter)
c.2109G>A (p.Trp703Ter)
c.1144G>A
n.1029+3311C>T
c.1755G>A (p.Trp585Ter)
c.1398G>A (p.Trp466Ter)
n.2456G>A
 dbSNP gnomAD v4
2g.166280559C>ACA349079898SCN1A-AS1,SCN9Ac.2141G>T (p.Trp714Leu)
c.2108G>T (p.Trp703Leu)
c.1143G>T
n.1029+3312C>A
c.1754G>T (p.Trp585Leu)
c.1397G>T (p.Trp466Leu)
n.2455G>T
 gnomAD v4
2g.166280559C=CA1304965890SCN1A-AS1,SCN9Ac.2141G= (p.Trp714=)
c.2108G= (p.Trp703=)
c.1143G=
n.1029+3312C=
c.1754G= (p.Trp585=)
c.1397G= (p.Trp466=)
n.2455G=
2g.166280559C>GCA349079900SCN1A-AS1,SCN9Ac.2141G>C (p.Trp714Ser)
c.2108G>C (p.Trp703Ser)
c.1143G>C
n.1029+3312C>G
c.1754G>C (p.Trp585Ser)
c.1397G>C (p.Trp466Ser)
n.2455G>C
2g.166280559C>TCA16042407SCN1A-AS1,SCN9Ac.2141G>A (p.Trp714Ter)
c.2108G>A (p.Trp703Ter)
c.1143G>A
n.1029+3312C>T
c.1754G>A (p.Trp585Ter)
c.1397G>A (p.Trp466Ter)
n.2455G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166280559_166280564delCA2701012444SCN1A-AS1,SCN9Ac.2136_2141del (p.Trp713_Trp714del)
c.2103_2108del (p.Trp702_Trp703del)
c.1138_1143del
n.1029+3312_1029+3317del
c.1749_1754del (p.Trp584_Trp585del)
c.1392_1397del (p.Trp465_Trp466del)
n.2450_2455del
 dbSNP
2g.166280560A=CA1304965892SCN1A-AS1,SCN9Ac.2140T= (p.Trp714=)
c.2107T= (p.Trp703=)
c.1142T=
n.1029+3313A=
c.1753T= (p.Trp585=)
c.1396T= (p.Trp466=)
n.2454T=
2g.166280560A>CCA349079909SCN1A-AS1,SCN9Ac.2140T>G (p.Trp714Gly)
c.2107T>G (p.Trp703Gly)
c.1142T>G
n.1029+3313A>C
c.1753T>G (p.Trp585Gly)
c.1396T>G (p.Trp466Gly)
n.2454T>G
2g.166280560A>GCA1944321SCN1A-AS1,SCN9Ac.2140T>C (p.Trp714Arg)
c.2107T>C (p.Trp703Arg)
c.1142T>C
n.1029+3313A>G
c.1753T>C (p.Trp585Arg)
c.1396T>C (p.Trp466Arg)
n.2454T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166280560A>TCA349079914SCN1A-AS1,SCN9Ac.2140T>A (p.Trp714Arg)
c.2107T>A (p.Trp703Arg)
c.1142T>A
n.1029+3313A>T
c.1753T>A (p.Trp585Arg)
c.1396T>A (p.Trp466Arg)
n.2454T>A
 dbSNP gnomAD v3 gnomAD v4
2g.166280561C>ACA349079918SCN1A-AS1,SCN9Ac.2139G>T (p.Trp713Cys)
c.2106G>T (p.Trp702Cys)
c.1141G>T
n.1029+3314C>A
c.1752G>T (p.Trp584Cys)
c.1395G>T (p.Trp465Cys)
n.2453G>T
2g.166280561C=CA1304965896SCN1A-AS1,SCN9Ac.2139G= (p.Trp713=)
c.2106G= (p.Trp702=)
c.1141G=
n.1029+3314C=
c.1752G= (p.Trp584=)
c.1395G= (p.Trp465=)
n.2453G=
2g.166280561C>GCA349079921SCN1A-AS1,SCN9Ac.2139G>C (p.Trp713Cys)
c.2106G>C (p.Trp702Cys)
c.1141G>C
n.1029+3314C>G
c.1752G>C (p.Trp584Cys)
c.1395G>C (p.Trp465Cys)
n.2453G>C
2g.166280561C>TCA349079925SCN1A-AS1,SCN9Ac.2139G>A (p.Trp713Ter)
c.2106G>A (p.Trp702Ter)
c.1141G>A
n.1029+3314C>T
c.1752G>A (p.Trp584Ter)
c.1395G>A (p.Trp465Ter)
n.2453G>A
 ClinVar dbSNP gnomAD v4
2g.166280562C>ACA349079930SCN1A-AS1,SCN9Ac.2138G>T (p.Trp713Leu)
c.2105G>T (p.Trp702Leu)
c.1140G>T
n.1029+3315C>A
c.1751G>T (p.Trp584Leu)
c.1394G>T (p.Trp465Leu)
n.2452G>T
 gnomAD v4
2g.166280562C>GCA349079933SCN1A-AS1,SCN9Ac.2138G>C (p.Trp713Ser)
c.2105G>C (p.Trp702Ser)
c.1140G>C
n.1029+3315C>G
c.1751G>C (p.Trp584Ser)
c.1394G>C (p.Trp465Ser)
n.2452G>C
2g.166280562C>TCA349079937SCN1A-AS1,SCN9Ac.2138G>A (p.Trp713Ter)
c.2105G>A (p.Trp702Ter)
c.1140G>A
n.1029+3315C>T
c.1751G>A (p.Trp584Ter)
c.1394G>A (p.Trp465Ter)
n.2452G>A
2g.166280563A=CA1304965898SCN1A-AS1,SCN9Ac.2137T= (p.Trp713=)
c.2104T= (p.Trp702=)
c.1139T=
n.1029+3316A=
c.1750T= (p.Trp584=)
c.1393T= (p.Trp465=)
n.2451T=
2g.166280563A>CCA349079943SCN1A-AS1,SCN9Ac.2137T>G (p.Trp713Gly)
c.2104T>G (p.Trp702Gly)
c.1139T>G
n.1029+3316A>C
c.1750T>G (p.Trp584Gly)
c.1393T>G (p.Trp465Gly)
n.2451T>G
2g.166280563A>GCA59796693SCN1A-AS1,SCN9Ac.2137T>C (p.Trp713Arg)
c.2104T>C (p.Trp702Arg)
c.1139T>C
n.1029+3316A>G
c.1750T>C (p.Trp584Arg)
c.1393T>C (p.Trp465Arg)
n.2451T>C
 dbSNP
2g.166280563A>TCA1944322SCN1A-AS1,SCN9Ac.2137T>A (p.Trp713Arg)
c.2104T>A (p.Trp702Arg)
c.1139T>A
n.1029+3316A>T
c.1750T>A (p.Trp584Arg)
c.1393T>A (p.Trp465Arg)
n.2451T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280564A=CA1304965901SCN1A-AS1,SCN9Ac.2136T= (p.Pro712=)
c.2103T= (p.Pro701=)
c.1138T=
n.1029+3317A=
c.1749T= (p.Pro583=)
c.1392T= (p.Pro464=)
n.2450T=
2g.166280564A>CCA429902652SCN1A-AS1,SCN9Ac.2136T>G (p.Pro712=)
c.2103T>G (p.Pro701=)
c.1138T>G
n.1029+3317A>C
c.1749T>G (p.Pro583=)
c.1392T>G (p.Pro464=)
n.2450T>G
 dbSNP gnomAD v3 gnomAD v4
2g.166280564A>GCA429902653SCN1A-AS1,SCN9Ac.2136T>C (p.Pro712=)
c.2103T>C (p.Pro701=)
c.1138T>C
n.1029+3317A>G
c.1749T>C (p.Pro583=)
c.1392T>C (p.Pro464=)
n.2450T>C
2g.166280564A>TCA429902654SCN1A-AS1,SCN9Ac.2136T>A (p.Pro712=)
c.2103T>A (p.Pro701=)
c.1138T>A
n.1029+3317A>T
c.1749T>A (p.Pro583=)
c.1392T>A (p.Pro464=)
n.2450T>A
 gnomAD v4
2g.166280565G>ACA16603177SCN1A-AS1,SCN9Ac.2135C>T (p.Pro712Leu)
c.2102C>T (p.Pro701Leu)
c.1137C>T
n.1029+3318G>A
c.1748C>T (p.Pro583Leu)
c.1391C>T (p.Pro464Leu)
n.2449C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166280565G>CCA59796701SCN1A-AS1,SCN9Ac.2135C>G (p.Pro712Arg)
c.2102C>G (p.Pro701Arg)
c.1137C>G
n.1029+3318G>C
c.1748C>G (p.Pro583Arg)
c.1391C>G (p.Pro464Arg)
n.2449C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166280565G=CA1304965902SCN1A-AS1,SCN9Ac.2135C= (p.Pro712=)
c.2102C= (p.Pro701=)
c.1137C=
n.1029+3318G=
c.1748C= (p.Pro583=)
c.1391C= (p.Pro464=)
n.2449C=
2g.166280565G>TCA59796705SCN1A-AS1,SCN9Ac.2135C>A (p.Pro712His)
c.2102C>A (p.Pro701His)
c.1137C>A
n.1029+3318G>T
c.1748C>A (p.Pro583His)
c.1391C>A (p.Pro464His)
n.2449C>A
 dbSNP gnomAD v4
2g.166280566G>ACA1944323SCN1A-AS1,SCN9Ac.2134C>T (p.Pro712Ser)
c.2101C>T (p.Pro701Ser)
c.1136C>T
n.1029+3319G>A
c.1747C>T (p.Pro583Ser)
c.1390C>T (p.Pro464Ser)
n.2448C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166280566G>CCA349079959SCN1A-AS1,SCN9Ac.2134C>G (p.Pro712Ala)
c.2101C>G (p.Pro701Ala)
c.1136C>G
n.1029+3319G>C
c.1747C>G (p.Pro583Ala)
c.1390C>G (p.Pro464Ala)
n.2448C>G
 gnomAD v4
2g.166280566G=CA1304965905SCN1A-AS1,SCN9Ac.2134C= (p.Pro712=)
c.2101C= (p.Pro701=)
c.1136C=
n.1029+3319G=
c.1747C= (p.Pro583=)
c.1390C= (p.Pro464=)
n.2448C=
2g.166280566G>TCA349079957SCN1A-AS1,SCN9Ac.2134C>A (p.Pro712Thr)
c.2101C>A (p.Pro701Thr)
c.1136C>A
n.1029+3319G>T
c.1747C>A (p.Pro583Thr)
c.1390C>A (p.Pro464Thr)
n.2448C>A
 gnomAD v4
2g.166280566_166280570delCA2701012455SCN1A-AS1,SCN9Ac.2130_2134del (p.Pro711LeufsTer?)
c.2097_2101del (p.Pro700LeufsTer?)
c.1132_1136del
n.1029+3319_1029+3323del
c.1743_1747del (p.Pro582LeufsTer?)
c.1386_1390del (p.Pro463LeufsTer?)
n.2444_2448del
 dbSNP
2g.166280567T>ACA429902657SCN1A-AS1,SCN9Ac.2133A>T (p.Pro711=)
c.2100A>T (p.Pro700=)
c.1135A>T
n.1029+3320T>A
c.1746A>T (p.Pro582=)
c.1389A>T (p.Pro463=)
n.2447A>T
2g.166280567T>CCA429902659SCN1A-AS1,SCN9Ac.2133A>G (p.Pro711=)
c.2100A>G (p.Pro700=)
c.1135A>G
n.1029+3320T>C
c.1746A>G (p.Pro582=)
c.1389A>G (p.Pro463=)
n.2447A>G
2g.166280567T>GCA429902658SCN1A-AS1,SCN9Ac.2133A>C (p.Pro711=)
c.2100A>C (p.Pro700=)
c.1135A>C
n.1029+3320T>G
c.1746A>C (p.Pro582=)
c.1389A>C (p.Pro463=)
n.2447A>C
 ClinVar dbSNP gnomAD v4
2g.166280567T=CA1304965909SCN1A-AS1,SCN9Ac.2133A= (p.Pro711=)
c.2100A= (p.Pro700=)
c.1135A=
n.1029+3320T=
c.1746A= (p.Pro582=)
c.1389A= (p.Pro463=)
n.2447A=
2g.166280568G>ACA349079962SCN1A-AS1,SCN9Ac.2132C>T (p.Pro711Leu)
c.2099C>T (p.Pro700Leu)
c.1134C>T
n.1029+3321G>A
c.1745C>T (p.Pro582Leu)
c.1388C>T (p.Pro463Leu)
n.2446C>T
2g.166280568G>CCA349079969SCN1A-AS1,SCN9Ac.2132C>G (p.Pro711Arg)
c.2099C>G (p.Pro700Arg)
c.1134C>G
n.1029+3321G>C
c.1745C>G (p.Pro582Arg)
c.1388C>G (p.Pro463Arg)
n.2446C>G
2g.166280568G>TCA349079965SCN1A-AS1,SCN9Ac.2132C>A (p.Pro711Gln)
c.2099C>A (p.Pro700Gln)
c.1134C>A
n.1029+3321G>T
c.1745C>A (p.Pro582Gln)
c.1388C>A (p.Pro463Gln)
n.2446C>A
 gnomAD v4
2g.166280569G>ACA349079972SCN1A-AS1,SCN9Ac.2131C>T (p.Pro711Ser)
c.2098C>T (p.Pro700Ser)
c.1133C>T
n.1029+3322G>A
c.1744C>T (p.Pro582Ser)
c.1387C>T (p.Pro463Ser)
n.2445C>T
 gnomAD v4
2g.166280569G>CCA349079978SCN1A-AS1,SCN9Ac.2131C>G (p.Pro711Ala)
c.2098C>G (p.Pro700Ala)
c.1133C>G
n.1029+3322G>C
c.1744C>G (p.Pro582Ala)
c.1387C>G (p.Pro463Ala)
n.2445C>G
 dbSNP
2g.166280569G=CA1304965913SCN1A-AS1,SCN9Ac.2131C= (p.Pro711=)
c.2098C= (p.Pro700=)
c.1133C=
n.1029+3322G=
c.1744C= (p.Pro582=)
c.1387C= (p.Pro463=)
n.2445C=
2g.166280569G>TCA349079982SCN1A-AS1,SCN9Ac.2131C>A (p.Pro711Thr)
c.2098C>A (p.Pro700Thr)
c.1133C>A
n.1029+3322G>T
c.1744C>A (p.Pro582Thr)
c.1387C>A (p.Pro463Thr)
n.2445C>A
 gnomAD v4
2g.166280570A=CA1304965916SCN1A-AS1,SCN9Ac.2130T= (p.Cys710=)
c.2097T= (p.Cys699=)
c.1132T=
n.1029+3323A=
c.1743T= (p.Cys581=)
c.1386T= (p.Cys462=)
n.2444T=
2g.166280570A>CCA349079984SCN1A-AS1,SCN9Ac.2130T>G (p.Cys710Trp)
c.2097T>G (p.Cys699Trp)
c.1132T>G
n.1029+3323A>C
c.1743T>G (p.Cys581Trp)
c.1386T>G (p.Cys462Trp)
n.2444T>G
 dbSNP gnomAD v2 gnomAD v4
2g.166280570A>GCA429902663SCN1A-AS1,SCN9Ac.2130T>C (p.Cys710=)
c.2097T>C (p.Cys699=)
c.1132T>C
n.1029+3323A>G
c.1743T>C (p.Cys581=)
c.1386T>C (p.Cys462=)
n.2444T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166280570A>TCA349079986SCN1A-AS1,SCN9Ac.2130T>A (p.Cys710Ter)
c.2097T>A (p.Cys699Ter)
c.1132T>A
n.1029+3323A>T
c.1743T>A (p.Cys581Ter)
c.1386T>A (p.Cys462Ter)
n.2444T>A
2g.166280571C>ACA349079990SCN1A-AS1,SCN9Ac.2129G>T (p.Cys710Phe)
c.2096G>T (p.Cys699Phe)
c.1131G>T
n.1029+3324C>A
c.1742G>T (p.Cys581Phe)
c.1385G>T (p.Cys462Phe)
n.2443G>T
 gnomAD v4
2g.166280571C=CA1304965921SCN1A-AS1,SCN9Ac.2129G= (p.Cys710=)
c.2096G= (p.Cys699=)
c.1131G=
n.1029+3324C=
c.1742G= (p.Cys581=)
c.1385G= (p.Cys462=)
n.2443G=
2g.166280571C>GCA349079993SCN1A-AS1,SCN9Ac.2129G>C (p.Cys710Ser)
c.2096G>C (p.Cys699Ser)
c.1131G>C
n.1029+3324C>G
c.1742G>C (p.Cys581Ser)
c.1385G>C (p.Cys462Ser)
n.2443G>C
2g.166280571C>TCA1944324SCN1A-AS1,SCN9Ac.2129G>A (p.Cys710Tyr)
c.2096G>A (p.Cys699Tyr)
c.1131G>A
n.1029+3324C>T
c.1742G>A (p.Cys581Tyr)
c.1385G>A (p.Cys462Tyr)
n.2443G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280572A=CA1304965927SCN1A-AS1,SCN9Ac.2128T= (p.Cys710=)
c.2095T= (p.Cys699=)
c.1130T=
n.1029+3325A=
c.1741T= (p.Cys581=)
c.1384T= (p.Cys462=)
n.2442T=
2g.166280572A>CCA349080000SCN1A-AS1,SCN9Ac.2128T>G (p.Cys710Gly)
c.2095T>G (p.Cys699Gly)
c.1130T>G
n.1029+3325A>C
c.1741T>G (p.Cys581Gly)
c.1384T>G (p.Cys462Gly)
n.2442T>G
2g.166280572A>GCA1944325SCN1A-AS1,SCN9Ac.2128T>C (p.Cys710Arg)
c.2095T>C (p.Cys699Arg)
c.1130T>C
n.1029+3325A>G
c.1741T>C (p.Cys581Arg)
c.1384T>C (p.Cys462Arg)
n.2442T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166280572A>TCA349080004SCN1A-AS1,SCN9Ac.2128T>A (p.Cys710Ser)
c.2095T>A (p.Cys699Ser)
c.1130T>A
n.1029+3325A>T
c.1741T>A (p.Cys581Ser)
c.1384T>A (p.Cys462Ser)
n.2442T>A
2g.166280573T>ACA349080013SCN1A-AS1,SCN9Ac.2127A>T (p.Lys709Asn)
c.2094A>T (p.Lys698Asn)
c.1129A>T
n.1029+3326T>A
c.1740A>T (p.Lys580Asn)
c.1383A>T (p.Lys461Asn)
n.2441A>T
2g.166280573T>CCA429902667SCN1A-AS1,SCN9Ac.2127A>G (p.Lys709=)
c.2094A>G (p.Lys698=)
c.1129A>G
n.1029+3326T>C
c.1740A>G (p.Lys580=)
c.1383A>G (p.Lys461=)
n.2441A>G
 gnomAD v4
2g.166280573T>GCA349080009SCN1A-AS1,SCN9Ac.2127A>C (p.Lys709Asn)
c.2094A>C (p.Lys698Asn)
c.1129A>C
n.1029+3326T>G
c.1740A>C (p.Lys580Asn)
c.1383A>C (p.Lys461Asn)
n.2441A>C
2g.166280577_166280578insTTTTTTTTTTTTTTTTTCA2753031963SCN1A-AS1,SCN9Ac.2127_2128insAAAAAAAAAAAAAAAAA (p.Cys710LysfsTer19)
c.2094_2095insAAAAAAAAAAAAAAAAA (p.Cys699LysfsTer19)
c.1129_1130insAAAAAAAAAAAAAAAAA
n.1029+3330_1029+3331insTTTTTTTTTTTTTTTTT
c.1740_1741insAAAAAAAAAAAAAAAAA (p.Cys581LysfsTer19)
c.1383_1384insAAAAAAAAAAAAAAAAA (p.Cys462LysfsTer19)
n.2441_2442insAAAAAAAAAAAAAAAAA
2g.166280577dupCA1304965928SCN1A-AS1,SCN9Ac.2127dup (p.Cys710MetfsTer?)
c.2094dup (p.Cys699MetfsTer?)
c.1129dup
n.1029+3330dup
c.1740dup (p.Cys581MetfsTer?)
c.1383dup (p.Cys462MetfsTer?)
n.2441dup
 dbSNP
2g.166280577delCA2661767714SCN1A-AS1,SCN9Ac.2127del (p.Lys709AsnfsTer14)
c.2094del (p.Lys698AsnfsTer14)
c.1129del
n.1029+3330del
c.1740del (p.Lys580AsnfsTer14)
c.1383del (p.Lys461AsnfsTer14)
n.2441del
 gnomAD v4
2g.166280574T>ACA349080015SCN1A-AS1,SCN9Ac.2126A>T (p.Lys709Ile)
c.2093A>T (p.Lys698Ile)
c.1128A>T
n.1029+3327T>A
c.1739A>T (p.Lys580Ile)
c.1382A>T (p.Lys461Ile)
n.2440A>T
 gnomAD v4
2g.166280574T>CCA1944326SCN1A-AS1,SCN9Ac.2126A>G (p.Lys709Arg)
c.2093A>G (p.Lys698Arg)
c.1128A>G
n.1029+3327T>C
c.1739A>G (p.Lys580Arg)
c.1382A>G (p.Lys461Arg)
n.2440A>G
 dbSNP ExAC gnomAD v2
2g.166280574T>GCA349080019SCN1A-AS1,SCN9Ac.2126A>C (p.Lys709Thr)
c.2093A>C (p.Lys698Thr)
c.1128A>C
n.1029+3327T>G
c.1739A>C (p.Lys580Thr)
c.1382A>C (p.Lys461Thr)
n.2440A>C
2g.166280574T=CA1304965930SCN1A-AS1,SCN9Ac.2126A= (p.Lys709=)
c.2093A= (p.Lys698=)
c.1128A=
n.1029+3327T=
c.1739A= (p.Lys580=)
c.1382A= (p.Lys461=)
n.2440A=
2g.166280575T>ACA349080022SCN1A-AS1,SCN9Ac.2125A>T (p.Lys709Ter)
c.2092A>T (p.Lys698Ter)
c.1127A>T
n.1029+3328T>A
c.1738A>T (p.Lys580Ter)
c.1381A>T (p.Lys461Ter)
n.2439A>T
 dbSNP
2g.166280575T>CCA349080025SCN1A-AS1,SCN9Ac.2125A>G (p.Lys709Glu)
c.2092A>G (p.Lys698Glu)
c.1127A>G
n.1029+3328T>C
c.1738A>G (p.Lys580Glu)
c.1381A>G (p.Lys461Glu)
n.2439A>G
 gnomAD v4
2g.166280575T>GCA349080028SCN1A-AS1,SCN9Ac.2125A>C (p.Lys709Gln)
c.2092A>C (p.Lys698Gln)
c.1127A>C
n.1029+3328T>G
c.1738A>C (p.Lys580Gln)
c.1381A>C (p.Lys461Gln)
n.2439A>C
2g.166280575T=CA1304965933SCN1A-AS1,SCN9Ac.2125A= (p.Lys709=)
c.2092A= (p.Lys698=)
c.1127A=
n.1029+3328T=
c.1738A= (p.Lys580=)
c.1381A= (p.Lys461=)
n.2439A=
2g.166280576T>ACA349080031SCN1A-AS1,SCN9Ac.2124A>T (p.Gln708His)
c.2091A>T (p.Gln697His)
c.1126A>T
n.1029+3329T>A
c.1737A>T (p.Gln579His)
c.1380A>T (p.Gln460His)
n.2438A>T
 gnomAD v4
2g.166280576T>CCA429902669SCN1A-AS1,SCN9Ac.2124A>G (p.Gln708=)
c.2091A>G (p.Gln697=)
c.1126A>G
n.1029+3329T>C
c.1737A>G (p.Gln579=)
c.1380A>G (p.Gln460=)
n.2438A>G
 gnomAD v4
2g.166280576T>GCA349080034SCN1A-AS1,SCN9Ac.2124A>C (p.Gln708His)
c.2091A>C (p.Gln697His)
c.1126A>C
n.1029+3329T>G
c.1737A>C (p.Gln579His)
c.1380A>C (p.Gln460His)
n.2438A>C
2g.166280577T>ACA349080039SCN1A-AS1,SCN9Ac.2123A>T (p.Gln708Leu)
c.2090A>T (p.Gln697Leu)
c.1125A>T
n.1029+3330T>A
c.1736A>T (p.Gln579Leu)
c.1379A>T (p.Gln460Leu)
n.2437A>T
 gnomAD v4
2g.166280577T>CCA349080041SCN1A-AS1,SCN9Ac.2123A>G (p.Gln708Arg)
c.2090A>G (p.Gln697Arg)
c.1125A>G
n.1029+3330T>C
c.1736A>G (p.Gln579Arg)
c.1379A>G (p.Gln460Arg)
n.2437A>G
 gnomAD v4
2g.166280577T>GCA349080044SCN1A-AS1,SCN9Ac.2123A>C (p.Gln708Pro)
c.2090A>C (p.Gln697Pro)
c.1125A>C
n.1029+3330T>G
c.1736A>C (p.Gln579Pro)
c.1379A>C (p.Gln460Pro)
n.2437A>C
2g.166280578G>ACA349080051SCN1A-AS1,SCN9Ac.2122C>T (p.Gln708Ter)
c.2089C>T (p.Gln697Ter)
c.1124C>T
n.1029+3331G>A
c.1735C>T (p.Gln579Ter)
c.1378C>T (p.Gln460Ter)
n.2436C>T
 dbSNP gnomAD v4
2g.166280578G>CCA349080054SCN1A-AS1,SCN9Ac.2122C>G (p.Gln708Glu)
c.2089C>G (p.Gln697Glu)
c.1124C>G
n.1029+3331G>C
c.1735C>G (p.Gln579Glu)
c.1378C>G (p.Gln460Glu)
n.2436C>G
2g.166280578G=CA1304965934SCN1A-AS1,SCN9Ac.2122C= (p.Gln708=)
c.2089C= (p.Gln697=)
c.1124C=
n.1029+3331G=
c.1735C= (p.Gln579=)
c.1378C= (p.Gln460=)
n.2436C=
2g.166280578G>TCA349080048SCN1A-AS1,SCN9Ac.2122C>A (p.Gln708Lys)
c.2089C>A (p.Gln697Lys)
c.1124C>A
n.1029+3331G>T
c.1735C>A (p.Gln579Lys)
c.1378C>A (p.Gln460Lys)
n.2436C>A
 gnomAD v4
2g.166280579T>ACA349080703SCN1A-AS1,SCN9Ac.2121A>T (p.Arg707Ser)
c.2088A>T (p.Arg696Ser)
c.1123A>T
n.1029+3332T>A
c.1734A>T (p.Arg578Ser)
c.1377A>T (p.Arg459Ser)
n.2435A>T
 gnomAD v4
2g.166280579T>CCA429902749SCN1A-AS1,SCN9Ac.2121A>G (p.Arg707=)
c.2088A>G (p.Arg696=)
c.1123A>G
n.1029+3332T>C
c.1734A>G (p.Arg578=)
c.1377A>G (p.Arg459=)
n.2435A>G
2g.166280579T>GCA349080705SCN1A-AS1,SCN9Ac.2121A>C (p.Arg707Ser)
c.2088A>C (p.Arg696Ser)
c.1123A>C
n.1029+3332T>G
c.1734A>C (p.Arg578Ser)
c.1377A>C (p.Arg459Ser)
n.2435A>C
2g.166280580C>ACA349080707SCN1A-AS1,SCN9Ac.2120G>T (p.Arg707Ile)
c.2087G>T (p.Arg696Ile)
c.1122G>T
n.1029+3333C>A
c.1733G>T (p.Arg578Ile)
c.1376G>T (p.Arg459Ile)
n.2434G>T
 gnomAD v4
2g.166280580C>GCA349080708SCN1A-AS1,SCN9Ac.2120G>C (p.Arg707Thr)
c.2087G>C (p.Arg696Thr)
c.1122G>C
n.1029+3333C>G
c.1733G>C (p.Arg578Thr)
c.1376G>C (p.Arg459Thr)
n.2434G>C
 gnomAD v4
2g.166280580C>TCA349080710SCN1A-AS1,SCN9Ac.2120G>A (p.Arg707Lys)
c.2087G>A (p.Arg696Lys)
c.1122G>A
n.1029+3333C>T
c.1733G>A (p.Arg578Lys)
c.1376G>A (p.Arg459Lys)
n.2434G>A
 gnomAD v4
2g.166280581T>ACA349080712SCN1A-AS1,SCN9Ac.2119A>T (p.Arg707Ter)
c.2086A>T (p.Arg696Ter)
c.1121A>T
n.1029+3334T>A
c.1732A>T (p.Arg578Ter)
c.1375A>T (p.Arg459Ter)
n.2433A>T
 dbSNP
2g.166280581T>CCA349080714SCN1A-AS1,SCN9Ac.2119A>G (p.Arg707Gly)
c.2086A>G (p.Arg696Gly)
c.1121A>G
n.1029+3334T>C
c.1732A>G (p.Arg578Gly)
c.1375A>G (p.Arg459Gly)
n.2433A>G
 gnomAD v4
2g.166280581T>GCA429902755SCN1A-AS1,SCN9Ac.2119A>C (p.Arg707=)
c.2086A>C (p.Arg696=)
c.1121A>C
n.1029+3334T>G
c.1732A>C (p.Arg578=)
c.1375A>C (p.Arg459=)
n.2433A>C
2g.166280581T=CA1304965938SCN1A-AS1,SCN9Ac.2119A= (p.Arg707=)
c.2086A= (p.Arg696=)
c.1121A=
n.1029+3334T=
c.1732A= (p.Arg578=)
c.1375A= (p.Arg459=)
n.2433A=

Number of alleles fetched