Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.165370147G>ACA349027569SCN2Ac.3697G>A (p.Glu1233Lys)
c.*2016G>A (n.*2016G>A)
c.*1684G>A (n.*1684G>A)
c.*4220G>A (n.*4220G>A)
c.*1639G>A (n.*1639G>A)
c.3301G>A (p.Glu1101Lys)
n.3840G>A
c.3667G>A (p.Glu1223Lys)
c.2944G>A (p.Glu982Lys)
c.1495G>A (p.Glu499Lys)
2g.165370147G>CCA349027567SCN2Ac.3697G>C (p.Glu1233Gln)
c.*2016G>C (n.*2016G>C)
c.*1684G>C (n.*1684G>C)
c.*4220G>C (n.*4220G>C)
c.*1639G>C (n.*1639G>C)
c.3301G>C (p.Glu1101Gln)
n.3840G>C
c.3667G>C (p.Glu1223Gln)
c.2944G>C (p.Glu982Gln)
c.1495G>C (p.Glu499Gln)
2g.165370147G=CA1304556574SCN2Ac.3697G= (p.Glu1233=)
c.*2016G= (n.*2016G=)
c.*1684G= (n.*1684G=)
c.*4220G= (n.*4220G=)
c.*1639G= (n.*1639G=)
c.3301G= (p.Glu1101=)
n.3840G=
c.3667G= (p.Glu1223=)
c.2944G= (p.Glu982=)
c.1495G= (p.Glu499=)
2g.165370147G>TCA16603364SCN2Ac.3697G>T (p.Glu1233Ter)
c.*2016G>T (n.*2016G>T)
c.*1684G>T (n.*1684G>T)
c.*4220G>T (n.*4220G>T)
c.*1639G>T (n.*1639G>T)
c.3301G>T (p.Glu1101Ter)
n.3840G>T
c.3667G>T (p.Glu1223Ter)
c.2944G>T (p.Glu982Ter)
c.1495G>T (p.Glu499Ter)
 ClinVar dbSNP
2g.165370148A=CA1304556575SCN2Ac.3698A= (p.Glu1233=)
c.*2017A= (n.*2017A=)
c.*1685A= (n.*1685A=)
c.*4221A= (n.*4221A=)
c.*1640A= (n.*1640A=)
c.3302A= (p.Glu1101=)
n.3841A=
c.3668A= (p.Glu1223=)
c.2945A= (p.Glu982=)
c.1496A= (p.Glu499=)
2g.165370148A>CCA349027576SCN2Ac.3698A>C (p.Glu1233Ala)
c.*2017A>C (n.*2017A>C)
c.*1685A>C (n.*1685A>C)
c.*4221A>C (n.*4221A>C)
c.*1640A>C (n.*1640A>C)
c.3302A>C (p.Glu1101Ala)
n.3841A>C
c.3668A>C (p.Glu1223Ala)
c.2945A>C (p.Glu982Ala)
c.1496A>C (p.Glu499Ala)
2g.165370148A>GCA349027579SCN2Ac.3698A>G (p.Glu1233Gly)
c.*2017A>G (n.*2017A>G)
c.*1685A>G (n.*1685A>G)
c.*4221A>G (n.*4221A>G)
c.*1640A>G (n.*1640A>G)
c.3302A>G (p.Glu1101Gly)
n.3841A>G
c.3668A>G (p.Glu1223Gly)
c.2945A>G (p.Glu982Gly)
c.1496A>G (p.Glu499Gly)
2g.165370148A>TCA1940163SCN2Ac.3698A>T (p.Glu1233Val)
c.*2017A>T (n.*2017A>T)
c.*1685A>T (n.*1685A>T)
c.*4221A>T (n.*4221A>T)
c.*1640A>T (n.*1640A>T)
c.3302A>T (p.Glu1101Val)
n.3841A>T
c.3668A>T (p.Glu1223Val)
c.2945A>T (p.Glu982Val)
c.1496A>T (p.Glu499Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.165370149G>ACA429886215SCN2Ac.3699G>A (p.Glu1233=)
c.*2018G>A (n.*2018G>A)
c.*1686G>A (n.*1686G>A)
c.*4222G>A (n.*4222G>A)
c.*1641G>A (n.*1641G>A)
c.3303G>A (p.Glu1101=)
n.3842G>A
c.3669G>A (p.Glu1223=)
c.2946G>A (p.Glu982=)
c.1497G>A (p.Glu499=)
2g.165370149G>CCA349027580SCN2Ac.3699G>C (p.Glu1233Asp)
c.*2018G>C (n.*2018G>C)
c.*1686G>C (n.*1686G>C)
c.*4222G>C (n.*4222G>C)
c.*1641G>C (n.*1641G>C)
c.3303G>C (p.Glu1101Asp)
n.3842G>C
c.3669G>C (p.Glu1223Asp)
c.2946G>C (p.Glu982Asp)
c.1497G>C (p.Glu499Asp)
2g.165370149G>TCA349027581SCN2Ac.3699G>T (p.Glu1233Asp)
c.*2018G>T (n.*2018G>T)
c.*1686G>T (n.*1686G>T)
c.*4222G>T (n.*4222G>T)
c.*1641G>T (n.*1641G>T)
c.3303G>T (p.Glu1101Asp)
n.3842G>T
c.3669G>T (p.Glu1223Asp)
c.2946G>T (p.Glu982Asp)
c.1497G>T (p.Glu499Asp)
2g.165370150C>ACA349027582SCN2Ac.3700C>A (p.Gln1234Lys)
c.*2019C>A (n.*2019C>A)
c.*1687C>A (n.*1687C>A)
c.*4223C>A (n.*4223C>A)
c.*1642C>A (n.*1642C>A)
c.3304C>A (p.Gln1102Lys)
n.3843C>A
c.3670C>A (p.Gln1224Lys)
c.2947C>A (p.Gln983Lys)
c.1498C>A (p.Gln500Lys)
2g.165370150C=CA1304556576SCN2Ac.3700C= (p.Gln1234=)
c.*2019C= (n.*2019C=)
c.*1687C= (n.*1687C=)
c.*4223C= (n.*4223C=)
c.*1642C= (n.*1642C=)
c.3304C= (p.Gln1102=)
n.3843C=
c.3670C= (p.Gln1224=)
c.2947C= (p.Gln983=)
c.1498C= (p.Gln500=)
2g.165370150C>GCA349027584SCN2Ac.3700C>G (p.Gln1234Glu)
c.*2019C>G (n.*2019C>G)
c.*1687C>G (n.*1687C>G)
c.*4223C>G (n.*4223C>G)
c.*1642C>G (n.*1642C>G)
c.3304C>G (p.Gln1102Glu)
n.3843C>G
c.3670C>G (p.Gln1224Glu)
c.2947C>G (p.Gln983Glu)
c.1498C>G (p.Gln500Glu)
2g.165370150C>TCA349027608SCN2Ac.3700C>T (p.Gln1234Ter)
c.*2019C>T (n.*2019C>T)
c.*1687C>T (n.*1687C>T)
c.*4223C>T (n.*4223C>T)
c.*1642C>T (n.*1642C>T)
c.3304C>T (p.Gln1102Ter)
n.3843C>T
c.3670C>T (p.Gln1224Ter)
c.2947C>T (p.Gln983Ter)
c.1498C>T (p.Gln500Ter)
 ClinVar dbSNP
2g.165370151A=CA1304556577SCN2Ac.3701A= (p.Gln1234=)
c.*2020A= (n.*2020A=)
c.*1688A= (n.*1688A=)
c.*4224A= (n.*4224A=)
c.*1643A= (n.*1643A=)
c.3305A= (p.Gln1102=)
n.3844A=
c.3671A= (p.Gln1224=)
c.2948A= (p.Gln983=)
c.1499A= (p.Gln500=)
2g.165370151A>CCA349027610SCN2Ac.3701A>C (p.Gln1234Pro)
c.*2020A>C (n.*2020A>C)
c.*1688A>C (n.*1688A>C)
c.*4224A>C (n.*4224A>C)
c.*1643A>C (n.*1643A>C)
c.3305A>C (p.Gln1102Pro)
n.3844A>C
c.3671A>C (p.Gln1224Pro)
c.2948A>C (p.Gln983Pro)
c.1499A>C (p.Gln500Pro)
2g.165370151A>GCA1940164SCN2Ac.3701A>G (p.Gln1234Arg)
c.*2020A>G (n.*2020A>G)
c.*1688A>G (n.*1688A>G)
c.*4224A>G (n.*4224A>G)
c.*1643A>G (n.*1643A>G)
c.3305A>G (p.Gln1102Arg)
n.3844A>G
c.3671A>G (p.Gln1224Arg)
c.2948A>G (p.Gln983Arg)
c.1499A>G (p.Gln500Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.165370151A>TCA349027613SCN2Ac.3701A>T (p.Gln1234Leu)
c.*2020A>T (n.*2020A>T)
c.*1688A>T (n.*1688A>T)
c.*4224A>T (n.*4224A>T)
c.*1643A>T (n.*1643A>T)
c.3305A>T (p.Gln1102Leu)
n.3844A>T
c.3671A>T (p.Gln1224Leu)
c.2948A>T (p.Gln983Leu)
c.1499A>T (p.Gln500Leu)
2g.165370152G>ACA429886216SCN2Ac.3702G>A (p.Gln1234=)
c.*2021G>A (n.*2021G>A)
c.*1689G>A (n.*1689G>A)
c.*4225G>A (n.*4225G>A)
c.*1644G>A (n.*1644G>A)
c.3306G>A (p.Gln1102=)
n.3845G>A
c.3672G>A (p.Gln1224=)
c.2949G>A (p.Gln983=)
c.1500G>A (p.Gln500=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.165370152G>CCA349027618SCN2Ac.3702G>C (p.Gln1234His)
c.*2021G>C (n.*2021G>C)
c.*1689G>C (n.*1689G>C)
c.*4225G>C (n.*4225G>C)
c.*1644G>C (n.*1644G>C)
c.3306G>C (p.Gln1102His)
n.3845G>C
c.3672G>C (p.Gln1224His)
c.2949G>C (p.Gln983His)
c.1500G>C (p.Gln500His)
2g.165370152G=CA1304556578SCN2Ac.3702G= (p.Gln1234=)
c.*2021G= (n.*2021G=)
c.*1689G= (n.*1689G=)
c.*4225G= (n.*4225G=)
c.*1644G= (n.*1644G=)
c.3306G= (p.Gln1102=)
n.3845G=
c.3672G= (p.Gln1224=)
c.2949G= (p.Gln983=)
c.1500G= (p.Gln500=)
2g.165370152G>TCA349027619SCN2Ac.3702G>T (p.Gln1234His)
c.*2021G>T (n.*2021G>T)
c.*1689G>T (n.*1689G>T)
c.*4225G>T (n.*4225G>T)
c.*1644G>T (n.*1644G>T)
c.3306G>T (p.Gln1102His)
n.3845G>T
c.3672G>T (p.Gln1224His)
c.2949G>T (p.Gln983His)
c.1500G>T (p.Gln500His)
2g.165370153C>ACA429886217SCN2Ac.3703C>A (p.Arg1235=)
c.*2022C>A (n.*2022C>A)
c.*1690C>A (n.*1690C>A)
c.*4226C>A (n.*4226C>A)
c.*1645C>A (n.*1645C>A)
c.3307C>A (p.Arg1103=)
n.3846C>A
c.3673C>A (p.Arg1225=)
c.2950C>A (p.Arg984=)
c.1501C>A (p.Arg501=)
2g.165370153C=CA1304556579SCN2Ac.3703C= (p.Arg1235=)
c.*2022C= (n.*2022C=)
c.*1690C= (n.*1690C=)
c.*4226C= (n.*4226C=)
c.*1645C= (n.*1645C=)
c.3307C= (p.Arg1103=)
n.3846C=
c.3673C= (p.Arg1225=)
c.2950C= (p.Arg984=)
c.1501C= (p.Arg501=)
2g.165370153C>GCA349027630SCN2Ac.3703C>G (p.Arg1235Gly)
c.*2022C>G (n.*2022C>G)
c.*1690C>G (n.*1690C>G)
c.*4226C>G (n.*4226C>G)
c.*1645C>G (n.*1645C>G)
c.3307C>G (p.Arg1103Gly)
n.3846C>G
c.3673C>G (p.Arg1225Gly)
c.2950C>G (p.Arg984Gly)
c.1501C>G (p.Arg501Gly)
2g.165370153C>TCA349027628SCN2Ac.3703C>T (p.Arg1235Ter)
c.*2022C>T (n.*2022C>T)
c.*1690C>T (n.*1690C>T)
c.*4226C>T (n.*4226C>T)
c.*1645C>T (n.*1645C>T)
c.3307C>T (p.Arg1103Ter)
n.3846C>T
c.3673C>T (p.Arg1225Ter)
c.2950C>T (p.Arg984Ter)
c.1501C>T (p.Arg501Ter)
 ClinVar dbSNP gnomAD v4
2g.165370154G>ACA349027638SCN2Ac.3704G>A (p.Arg1235Gln)
c.*2023G>A (n.*2023G>A)
c.*1691G>A (n.*1691G>A)
c.*4227G>A (n.*4227G>A)
c.*1646G>A (n.*1646G>A)
c.3308G>A (p.Arg1103Gln)
n.3847G>A
c.3674G>A (p.Arg1225Gln)
c.2951G>A (p.Arg984Gln)
c.1502G>A (p.Arg501Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.165370154G>CCA349027640SCN2Ac.3704G>C (p.Arg1235Pro)
c.*2023G>C (n.*2023G>C)
c.*1691G>C (n.*1691G>C)
c.*4227G>C (n.*4227G>C)
c.*1646G>C (n.*1646G>C)
c.3308G>C (p.Arg1103Pro)
n.3847G>C
c.3674G>C (p.Arg1225Pro)
c.2951G>C (p.Arg984Pro)
c.1502G>C (p.Arg501Pro)
2g.165370154G=CA1304556580SCN2Ac.3704G= (p.Arg1235=)
c.*2023G= (n.*2023G=)
c.*1691G= (n.*1691G=)
c.*4227G= (n.*4227G=)
c.*1646G= (n.*1646G=)
c.3308G= (p.Arg1103=)
n.3847G=
c.3674G= (p.Arg1225=)
c.2951G= (p.Arg984=)
c.1502G= (p.Arg501=)
2g.165370154G>TCA349027639SCN2Ac.3704G>T (p.Arg1235Leu)
c.*2023G>T (n.*2023G>T)
c.*1691G>T (n.*1691G>T)
c.*4227G>T (n.*4227G>T)
c.*1646G>T (n.*1646G>T)
c.3308G>T (p.Arg1103Leu)
n.3847G>T
c.3674G>T (p.Arg1225Leu)
c.2951G>T (p.Arg984Leu)
c.1502G>T (p.Arg501Leu)
2g.165370155A>CCA429886218SCN2Ac.3705A>C (p.Arg1235=)
c.*2024A>C (n.*2024A>C)
c.*1692A>C (n.*1692A>C)
c.*4228A>C (n.*4228A>C)
c.*1647A>C (n.*1647A>C)
c.3309A>C (p.Arg1103=)
n.3848A>C
c.3675A>C (p.Arg1225=)
c.2952A>C (p.Arg984=)
c.1503A>C (p.Arg501=)
2g.165370155A>GCA429886219SCN2Ac.3705A>G (p.Arg1235=)
c.*2024A>G (n.*2024A>G)
c.*1692A>G (n.*1692A>G)
c.*4228A>G (n.*4228A>G)
c.*1647A>G (n.*1647A>G)
c.3309A>G (p.Arg1103=)
n.3848A>G
c.3675A>G (p.Arg1225=)
c.2952A>G (p.Arg984=)
c.1503A>G (p.Arg501=)
2g.165370155A>TCA429886220SCN2Ac.3705A>T (p.Arg1235=)
c.*2024A>T (n.*2024A>T)
c.*1692A>T (n.*1692A>T)
c.*4228A>T (n.*4228A>T)
c.*1647A>T (n.*1647A>T)
c.3309A>T (p.Arg1103=)
n.3848A>T
c.3675A>T (p.Arg1225=)
c.2952A>T (p.Arg984=)
c.1503A>T (p.Arg501=)
2g.165370156A=CA1304556581SCN2Ac.3706A= (p.Lys1236=)
c.*2025A= (n.*2025A=)
c.*1693A= (n.*1693A=)
c.*4229A= (n.*4229A=)
c.*1648A= (n.*1648A=)
c.3310A= (p.Lys1104=)
n.3849A=
c.3676A= (p.Lys1226=)
c.2953A= (p.Lys985=)
c.1504A= (p.Lys502=)
2g.165370156A>CCA349027641SCN2Ac.3706A>C (p.Lys1236Gln)
c.*2025A>C (n.*2025A>C)
c.*1693A>C (n.*1693A>C)
c.*4229A>C (n.*4229A>C)
c.*1648A>C (n.*1648A>C)
c.3310A>C (p.Lys1104Gln)
n.3849A>C
c.3676A>C (p.Lys1226Gln)
c.2953A>C (p.Lys985Gln)
c.1504A>C (p.Lys502Gln)
2g.165370156A>GCA349027642SCN2Ac.3706A>G (p.Lys1236Glu)
c.*2025A>G (n.*2025A>G)
c.*1693A>G (n.*1693A>G)
c.*4229A>G (n.*4229A>G)
c.*1648A>G (n.*1648A>G)
c.3310A>G (p.Lys1104Glu)
n.3849A>G
c.3676A>G (p.Lys1226Glu)
c.2953A>G (p.Lys985Glu)
c.1504A>G (p.Lys502Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.165370156A>TCA349027644SCN2Ac.3706A>T (p.Lys1236Ter)
c.*2025A>T (n.*2025A>T)
c.*1693A>T (n.*1693A>T)
c.*4229A>T (n.*4229A>T)
c.*1648A>T (n.*1648A>T)
c.3310A>T (p.Lys1104Ter)
n.3849A>T
c.3676A>T (p.Lys1226Ter)
c.2953A>T (p.Lys985Ter)
c.1504A>T (p.Lys502Ter)
 dbSNP
2g.165370157A>CCA349027646SCN2Ac.3707A>C (p.Lys1236Thr)
c.*2026A>C (n.*2026A>C)
c.*1694A>C (n.*1694A>C)
c.*4230A>C (n.*4230A>C)
c.*1649A>C (n.*1649A>C)
c.3311A>C (p.Lys1104Thr)
n.3850A>C
c.3677A>C (p.Lys1226Thr)
c.2954A>C (p.Lys985Thr)
c.1505A>C (p.Lys502Thr)
2g.165370157A>GCA349027649SCN2Ac.3707A>G (p.Lys1236Arg)
c.*2026A>G (n.*2026A>G)
c.*1694A>G (n.*1694A>G)
c.*4230A>G (n.*4230A>G)
c.*1649A>G (n.*1649A>G)
c.3311A>G (p.Lys1104Arg)
n.3850A>G
c.3677A>G (p.Lys1226Arg)
c.2954A>G (p.Lys985Arg)
c.1505A>G (p.Lys502Arg)
 ClinVar dbSNP gnomAD v4
2g.165370157A>TCA349027653SCN2Ac.3707A>T (p.Lys1236Ile)
c.*2026A>T (n.*2026A>T)
c.*1694A>T (n.*1694A>T)
c.*4230A>T (n.*4230A>T)
c.*1649A>T (n.*1649A>T)
c.3311A>T (p.Lys1104Ile)
n.3850A>T
c.3677A>T (p.Lys1226Ile)
c.2954A>T (p.Lys985Ile)
c.1505A>T (p.Lys502Ile)
2g.165370158A>CCA349027656SCN2Ac.3708A>C (p.Lys1236Asn)
c.*2027A>C (n.*2027A>C)
c.*1695A>C (n.*1695A>C)
c.*4231A>C (n.*4231A>C)
c.*1650A>C (n.*1650A>C)
c.3312A>C (p.Lys1104Asn)
n.3851A>C
c.3678A>C (p.Lys1226Asn)
c.2955A>C (p.Lys985Asn)
c.1506A>C (p.Lys502Asn)
2g.165370158A>GCA429886221SCN2Ac.3708A>G (p.Lys1236=)
c.*2027A>G (n.*2027A>G)
c.*1695A>G (n.*1695A>G)
c.*4231A>G (n.*4231A>G)
c.*1650A>G (n.*1650A>G)
c.3312A>G (p.Lys1104=)
n.3851A>G
c.3678A>G (p.Lys1226=)
c.2955A>G (p.Lys985=)
c.1506A>G (p.Lys502=)
2g.165370158A>TCA349027658SCN2Ac.3708A>T (p.Lys1236Asn)
c.*2027A>T (n.*2027A>T)
c.*1695A>T (n.*1695A>T)
c.*4231A>T (n.*4231A>T)
c.*1650A>T (n.*1650A>T)
c.3312A>T (p.Lys1104Asn)
n.3851A>T
c.3678A>T (p.Lys1226Asn)
c.2955A>T (p.Lys985Asn)
c.1506A>T (p.Lys502Asn)
2g.165370159A>CCA349027660SCN2Ac.3709A>C (p.Thr1237Pro)
c.*2028A>C (n.*2028A>C)
c.*1696A>C (n.*1696A>C)
c.*4232A>C (n.*4232A>C)
c.*1651A>C (n.*1651A>C)
c.3313A>C (p.Thr1105Pro)
n.3852A>C
c.3679A>C (p.Thr1227Pro)
c.2956A>C (p.Thr986Pro)
c.1507A>C (p.Thr503Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.165370159A>GCA349027661SCN2Ac.3709A>G (p.Thr1237Ala)
c.*2028A>G (n.*2028A>G)
c.*1696A>G (n.*1696A>G)
c.*4232A>G (n.*4232A>G)
c.*1651A>G (n.*1651A>G)
c.3313A>G (p.Thr1105Ala)
n.3852A>G
c.3679A>G (p.Thr1227Ala)
c.2956A>G (p.Thr986Ala)
c.1507A>G (p.Thr503Ala)
2g.165370159A>TCA349027662SCN2Ac.3709A>T (p.Thr1237Ser)
c.*2028A>T (n.*2028A>T)
c.*1696A>T (n.*1696A>T)
c.*4232A>T (n.*4232A>T)
c.*1651A>T (n.*1651A>T)
c.3313A>T (p.Thr1105Ser)
n.3852A>T
c.3679A>T (p.Thr1227Ser)
c.2956A>T (p.Thr986Ser)
c.1507A>T (p.Thr503Ser)
2g.165370160C>ACA349027666SCN2Ac.3710C>A (p.Thr1237Asn)
c.*2029C>A (n.*2029C>A)
c.*1697C>A (n.*1697C>A)
c.*4233C>A (n.*4233C>A)
c.*1652C>A (n.*1652C>A)
c.3314C>A (p.Thr1105Asn)
n.3853C>A
c.3680C>A (p.Thr1227Asn)
c.2957C>A (p.Thr986Asn)
c.1508C>A (p.Thr503Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.165370160C=CA1304556582SCN2Ac.3710C= (p.Thr1237=)
c.*2029C= (n.*2029C=)
c.*1697C= (n.*1697C=)
c.*4233C= (n.*4233C=)
c.*1652C= (n.*1652C=)
c.3314C= (p.Thr1105=)
n.3853C=
c.3680C= (p.Thr1227=)
c.2957C= (p.Thr986=)
c.1508C= (p.Thr503=)
2g.165370160C>GCA349027664SCN2Ac.3710C>G (p.Thr1237Ser)
c.*2029C>G (n.*2029C>G)
c.*1697C>G (n.*1697C>G)
c.*4233C>G (n.*4233C>G)
c.*1652C>G (n.*1652C>G)
c.3314C>G (p.Thr1105Ser)
n.3853C>G
c.3680C>G (p.Thr1227Ser)
c.2957C>G (p.Thr986Ser)
c.1508C>G (p.Thr503Ser)
2g.165370160C>TCA349027663SCN2Ac.3710C>T (p.Thr1237Ile)
c.*2029C>T (n.*2029C>T)
c.*1697C>T (n.*1697C>T)
c.*4233C>T (n.*4233C>T)
c.*1652C>T (n.*1652C>T)
c.3314C>T (p.Thr1105Ile)
n.3853C>T
c.3680C>T (p.Thr1227Ile)
c.2957C>T (p.Thr986Ile)
c.1508C>T (p.Thr503Ile)
2g.165370161delCA2499215162SCN2Ac.3711del (p.Ile1238LeufsTer5)
c.*2030del (n.*2030del)
c.*1698del (n.*1698del)
c.*4234del (n.*4234del)
c.*1653del (n.*1653del)
c.3315del (p.Ile1106LeufsTer5)
n.3854del
c.3681del (p.Ile1228LeufsTer5)
c.2958del (p.Ile987LeufsTer5)
c.1509del (p.Ile504LeufsTer5)
 ClinVar dbSNP
2g.165370161C>ACA429886222SCN2Ac.3711C>A (p.Thr1237=)
c.*2030C>A (n.*2030C>A)
c.*1698C>A (n.*1698C>A)
c.*4234C>A (n.*4234C>A)
c.*1653C>A (n.*1653C>A)
c.3315C>A (p.Thr1105=)
n.3854C>A
c.3681C>A (p.Thr1227=)
c.2958C>A (p.Thr986=)
c.1509C>A (p.Thr503=)
2g.165370161C=CA1304556583SCN2Ac.3711C= (p.Thr1237=)
c.*2030C= (n.*2030C=)
c.*1698C= (n.*1698C=)
c.*4234C= (n.*4234C=)
c.*1653C= (n.*1653C=)
c.3315C= (p.Thr1105=)
n.3854C=
c.3681C= (p.Thr1227=)
c.2958C= (p.Thr986=)
c.1509C= (p.Thr503=)
2g.165370161C>GCA429886223SCN2Ac.3711C>G (p.Thr1237=)
c.*2030C>G (n.*2030C>G)
c.*1698C>G (n.*1698C>G)
c.*4234C>G (n.*4234C>G)
c.*1653C>G (n.*1653C>G)
c.3315C>G (p.Thr1105=)
n.3854C>G
c.3681C>G (p.Thr1227=)
c.2958C>G (p.Thr986=)
c.1509C>G (p.Thr503=)
 dbSNP gnomAD v2 gnomAD v4
2g.165370161C>TCA429886224SCN2Ac.3711C>T (p.Thr1237=)
c.*2030C>T (n.*2030C>T)
c.*1698C>T (n.*1698C>T)
c.*4234C>T (n.*4234C>T)
c.*1653C>T (n.*1653C>T)
c.3315C>T (p.Thr1105=)
n.3854C>T
c.3681C>T (p.Thr1227=)
c.2958C>T (p.Thr986=)
c.1509C>T (p.Thr503=)
2g.165370162A=CA1304556584SCN2Ac.3712A= (p.Ile1238=)
c.*2031A= (n.*2031A=)
c.*1699A= (n.*1699A=)
c.*4235A= (n.*4235A=)
c.*1654A= (n.*1654A=)
c.3316A= (p.Ile1106=)
n.3855A=
c.3682A= (p.Ile1228=)
c.2959A= (p.Ile987=)
c.1510A= (p.Ile504=)
2g.165370162A>CCA349027668SCN2Ac.3712A>C (p.Ile1238Leu)
c.*2031A>C (n.*2031A>C)
c.*1699A>C (n.*1699A>C)
c.*4235A>C (n.*4235A>C)
c.*1654A>C (n.*1654A>C)
c.3316A>C (p.Ile1106Leu)
n.3855A>C
c.3682A>C (p.Ile1228Leu)
c.2959A>C (p.Ile987Leu)
c.1510A>C (p.Ile504Leu)
2g.165370162A>GCA349027669SCN2Ac.3712A>G (p.Ile1238Val)
c.*2031A>G (n.*2031A>G)
c.*1699A>G (n.*1699A>G)
c.*4235A>G (n.*4235A>G)
c.*1654A>G (n.*1654A>G)
c.3316A>G (p.Ile1106Val)
n.3855A>G
c.3682A>G (p.Ile1228Val)
c.2959A>G (p.Ile987Val)
c.1510A>G (p.Ile504Val)
 ClinVar dbSNP
2g.165370162A>TCA349027671SCN2Ac.3712A>T (p.Ile1238Phe)
c.*2031A>T (n.*2031A>T)
c.*1699A>T (n.*1699A>T)
c.*4235A>T (n.*4235A>T)
c.*1654A>T (n.*1654A>T)
c.3316A>T (p.Ile1106Phe)
n.3855A>T
c.3682A>T (p.Ile1228Phe)
c.2959A>T (p.Ile987Phe)
c.1510A>T (p.Ile504Phe)
2g.165370163T>ACA349027673SCN2Ac.3713T>A (p.Ile1238Asn)
c.*2032T>A (n.*2032T>A)
c.*1700T>A (n.*1700T>A)
c.*4236T>A (n.*4236T>A)
c.*1655T>A (n.*1655T>A)
c.3317T>A (p.Ile1106Asn)
n.3856T>A
c.3683T>A (p.Ile1228Asn)
c.2960T>A (p.Ile987Asn)
c.1511T>A (p.Ile504Asn)
2g.165370163T>CCA349027674SCN2Ac.3713T>C (p.Ile1238Thr)
c.*2032T>C (n.*2032T>C)
c.*1700T>C (n.*1700T>C)
c.*4236T>C (n.*4236T>C)
c.*1655T>C (n.*1655T>C)
c.3317T>C (p.Ile1106Thr)
n.3856T>C
c.3683T>C (p.Ile1228Thr)
c.2960T>C (p.Ile987Thr)
c.1511T>C (p.Ile504Thr)
2g.165370163T>GCA349027675SCN2Ac.3713T>G (p.Ile1238Ser)
c.*2032T>G (n.*2032T>G)
c.*1700T>G (n.*1700T>G)
c.*4236T>G (n.*4236T>G)
c.*1655T>G (n.*1655T>G)
c.3317T>G (p.Ile1106Ser)
n.3856T>G
c.3683T>G (p.Ile1228Ser)
c.2960T>G (p.Ile987Ser)
c.1511T>G (p.Ile504Ser)
2g.165370164T>ACA429886225SCN2Ac.3714T>A (p.Ile1238=)
c.*2033T>A (n.*2033T>A)
c.*1701T>A (n.*1701T>A)
c.*4237T>A (n.*4237T>A)
c.*1656T>A (n.*1656T>A)
c.3318T>A (p.Ile1106=)
n.3857T>A
c.3684T>A (p.Ile1228=)
c.2961T>A (p.Ile987=)
c.1512T>A (p.Ile504=)
2g.165370164T>CCA429886226SCN2Ac.3714T>C (p.Ile1238=)
c.*2033T>C (n.*2033T>C)
c.*1701T>C (n.*1701T>C)
c.*4237T>C (n.*4237T>C)
c.*1656T>C (n.*1656T>C)
c.3318T>C (p.Ile1106=)
n.3857T>C
c.3684T>C (p.Ile1228=)
c.2961T>C (p.Ile987=)
c.1512T>C (p.Ile504=)
2g.165370164T>GCA59734225SCN2Ac.3714T>G (p.Ile1238Met)
c.*2033T>G (n.*2033T>G)
c.*1701T>G (n.*1701T>G)
c.*4237T>G (n.*4237T>G)
c.*1656T>G (n.*1656T>G)
c.3318T>G (p.Ile1106Met)
n.3857T>G
c.3684T>G (p.Ile1228Met)
c.2961T>G (p.Ile987Met)
c.1512T>G (p.Ile504Met)
 dbSNP gnomAD v4
2g.165370164T=CA1304556585SCN2Ac.3714T= (p.Ile1238=)
c.*2033T= (n.*2033T=)
c.*1701T= (n.*1701T=)
c.*4237T= (n.*4237T=)
c.*1656T= (n.*1656T=)
c.3318T= (p.Ile1106=)
n.3857T=
c.3684T= (p.Ile1228=)
c.2961T= (p.Ile987=)
c.1512T= (p.Ile504=)
2g.165370165A=CA1304556586SCN2Ac.3715A= (p.Lys1239=)
c.*2034A= (n.*2034A=)
c.*1702A= (n.*1702A=)
c.*4238A= (n.*4238A=)
c.*1657A= (n.*1657A=)
c.3319A= (p.Lys1107=)
n.3858A=
c.3685A= (p.Lys1229=)
c.2962A= (p.Lys988=)
c.1513A= (p.Lys505=)
2g.165370165A>CCA349027677SCN2Ac.3715A>C (p.Lys1239Gln)
c.*2034A>C (n.*2034A>C)
c.*1702A>C (n.*1702A>C)
c.*4238A>C (n.*4238A>C)
c.*1657A>C (n.*1657A>C)
c.3319A>C (p.Lys1107Gln)
n.3858A>C
c.3685A>C (p.Lys1229Gln)
c.2962A>C (p.Lys988Gln)
c.1513A>C (p.Lys505Gln)
2g.165370165A>GCA349027679SCN2Ac.3715A>G (p.Lys1239Glu)
c.*2034A>G (n.*2034A>G)
c.*1702A>G (n.*1702A>G)
c.*4238A>G (n.*4238A>G)
c.*1657A>G (n.*1657A>G)
c.3319A>G (p.Lys1107Glu)
n.3858A>G
c.3685A>G (p.Lys1229Glu)
c.2962A>G (p.Lys988Glu)
c.1513A>G (p.Lys505Glu)
2g.165370165A>TCA349027685SCN2Ac.3715A>T (p.Lys1239Ter)
c.*2034A>T (n.*2034A>T)
c.*1702A>T (n.*1702A>T)
c.*4238A>T (n.*4238A>T)
c.*1657A>T (n.*1657A>T)
c.3319A>T (p.Lys1107Ter)
n.3858A>T
c.3685A>T (p.Lys1229Ter)
c.2962A>T (p.Lys988Ter)
c.1513A>T (p.Lys505Ter)
 dbSNP
2g.165370166A>CCA349027689SCN2Ac.3716A>C (p.Lys1239Thr)
c.*2035A>C (n.*2035A>C)
c.*1703A>C (n.*1703A>C)
c.*4239A>C (n.*4239A>C)
c.*1658A>C (n.*1658A>C)
c.3320A>C (p.Lys1107Thr)
n.3859A>C
c.3686A>C (p.Lys1229Thr)
c.2963A>C (p.Lys988Thr)
c.1514A>C (p.Lys505Thr)
2g.165370166A>GCA349027691SCN2Ac.3716A>G (p.Lys1239Arg)
c.*2035A>G (n.*2035A>G)
c.*1703A>G (n.*1703A>G)
c.*4239A>G (n.*4239A>G)
c.*1658A>G (n.*1658A>G)
c.3320A>G (p.Lys1107Arg)
n.3859A>G
c.3686A>G (p.Lys1229Arg)
c.2963A>G (p.Lys988Arg)
c.1514A>G (p.Lys505Arg)
2g.165370166A>TCA349027694SCN2Ac.3716A>T (p.Lys1239Met)
c.*2035A>T (n.*2035A>T)
c.*1703A>T (n.*1703A>T)
c.*4239A>T (n.*4239A>T)
c.*1658A>T (n.*1658A>T)
c.3320A>T (p.Lys1107Met)
n.3859A>T
c.3686A>T (p.Lys1229Met)
c.2963A>T (p.Lys988Met)
c.1514A>T (p.Lys505Met)
2g.165370167G>ACA429886227SCN2Ac.3717G>A (p.Lys1239=)
c.*2036G>A (n.*2036G>A)
c.*1704G>A (n.*1704G>A)
c.*4240G>A (n.*4240G>A)
c.*1659G>A (n.*1659G>A)
c.3321G>A (p.Lys1107=)
n.3860G>A
c.3687G>A (p.Lys1229=)
c.2964G>A (p.Lys988=)
c.1515G>A (p.Lys505=)
 gnomAD v4
2g.165370167G>CCA349027699SCN2Ac.3717G>C (p.Lys1239Asn)
c.*2036G>C (n.*2036G>C)
c.*1704G>C (n.*1704G>C)
c.*4240G>C (n.*4240G>C)
c.*1659G>C (n.*1659G>C)
c.3321G>C (p.Lys1107Asn)
n.3860G>C
c.3687G>C (p.Lys1229Asn)
c.2964G>C (p.Lys988Asn)
c.1515G>C (p.Lys505Asn)
2g.165370167G>TCA349027697SCN2Ac.3717G>T (p.Lys1239Asn)
c.*2036G>T (n.*2036G>T)
c.*1704G>T (n.*1704G>T)
c.*4240G>T (n.*4240G>T)
c.*1659G>T (n.*1659G>T)
c.3321G>T (p.Lys1107Asn)
n.3860G>T
c.3687G>T (p.Lys1229Asn)
c.2964G>T (p.Lys988Asn)
c.1515G>T (p.Lys505Asn)
2g.165370168A>CCA349027701SCN2Ac.3718A>C (p.Thr1240Pro)
c.*2037A>C (n.*2037A>C)
c.*1705A>C (n.*1705A>C)
c.*4241A>C (n.*4241A>C)
c.*1660A>C (n.*1660A>C)
c.3322A>C (p.Thr1108Pro)
n.3861A>C
c.3688A>C (p.Thr1230Pro)
c.2965A>C (p.Thr989Pro)
c.1516A>C (p.Thr506Pro)
2g.165370168A>GCA349027707SCN2Ac.3718A>G (p.Thr1240Ala)
c.*2037A>G (n.*2037A>G)
c.*1705A>G (n.*1705A>G)
c.*4241A>G (n.*4241A>G)
c.*1660A>G (n.*1660A>G)
c.3322A>G (p.Thr1108Ala)
n.3861A>G
c.3688A>G (p.Thr1230Ala)
c.2965A>G (p.Thr989Ala)
c.1516A>G (p.Thr506Ala)
2g.165370168A>TCA349027702SCN2Ac.3718A>T (p.Thr1240Ser)
c.*2037A>T (n.*2037A>T)
c.*1705A>T (n.*1705A>T)
c.*4241A>T (n.*4241A>T)
c.*1660A>T (n.*1660A>T)
c.3322A>T (p.Thr1108Ser)
n.3861A>T
c.3688A>T (p.Thr1230Ser)
c.2965A>T (p.Thr989Ser)
c.1516A>T (p.Thr506Ser)
2g.165370169C>ACA349027710SCN2Ac.3719C>A (p.Thr1240Asn)
c.*2038C>A (n.*2038C>A)
c.*1706C>A (n.*1706C>A)
c.*4242C>A (n.*4242C>A)
c.*1661C>A (n.*1661C>A)
c.3323C>A (p.Thr1108Asn)
n.3862C>A
c.3689C>A (p.Thr1230Asn)
c.2966C>A (p.Thr989Asn)
c.1517C>A (p.Thr506Asn)
 gnomAD v4
2g.165370169C>GCA349027712SCN2Ac.3719C>G (p.Thr1240Ser)
c.*2038C>G (n.*2038C>G)
c.*1706C>G (n.*1706C>G)
c.*4242C>G (n.*4242C>G)
c.*1661C>G (n.*1661C>G)
c.3323C>G (p.Thr1108Ser)
n.3862C>G
c.3689C>G (p.Thr1230Ser)
c.2966C>G (p.Thr989Ser)
c.1517C>G (p.Thr506Ser)
2g.165370169C>TCA349027715SCN2Ac.3719C>T (p.Thr1240Ile)
c.*2038C>T (n.*2038C>T)
c.*1706C>T (n.*1706C>T)
c.*4242C>T (n.*4242C>T)
c.*1661C>T (n.*1661C>T)
c.3323C>T (p.Thr1108Ile)
n.3862C>T
c.3689C>T (p.Thr1230Ile)
c.2966C>T (p.Thr989Ile)
c.1517C>T (p.Thr506Ile)
 ClinVar dbSNP
2g.165370170C>ACA429886228SCN2Ac.3720C>A (p.Thr1240=)
c.*2039C>A (n.*2039C>A)
c.*1707C>A (n.*1707C>A)
c.*4243C>A (n.*4243C>A)
c.*1662C>A (n.*1662C>A)
c.3324C>A (p.Thr1108=)
n.3863C>A
c.3690C>A (p.Thr1230=)
c.2967C>A (p.Thr989=)
c.1518C>A (p.Thr506=)
2g.165370170C>GCA429886229SCN2Ac.3720C>G (p.Thr1240=)
c.*2039C>G (n.*2039C>G)
c.*1707C>G (n.*1707C>G)
c.*4243C>G (n.*4243C>G)
c.*1662C>G (n.*1662C>G)
c.3324C>G (p.Thr1108=)
n.3863C>G
c.3690C>G (p.Thr1230=)
c.2967C>G (p.Thr989=)
c.1518C>G (p.Thr506=)
2g.165370170C>TCA429886230SCN2Ac.3720C>T (p.Thr1240=)
c.*2039C>T (n.*2039C>T)
c.*1707C>T (n.*1707C>T)
c.*4243C>T (n.*4243C>T)
c.*1662C>T (n.*1662C>T)
c.3324C>T (p.Thr1108=)
n.3863C>T
c.3690C>T (p.Thr1230=)
c.2967C>T (p.Thr989=)
c.1518C>T (p.Thr506=)
2g.165370171A=CA1304556587SCN2Ac.3721A= (p.Met1241=)
c.*2040A= (n.*2040A=)
c.*1708A= (n.*1708A=)
c.*4244A= (n.*4244A=)
c.*1663A= (n.*1663A=)
c.3325A= (p.Met1109=)
n.3864A=
c.3691A= (p.Met1231=)
c.2968A= (p.Met990=)
c.1519A= (p.Met507=)
2g.165370171A>CCA349027718SCN2Ac.3721A>C (p.Met1241Leu)
c.*2040A>C (n.*2040A>C)
c.*1708A>C (n.*1708A>C)
c.*4244A>C (n.*4244A>C)
c.*1663A>C (n.*1663A>C)
c.3325A>C (p.Met1109Leu)
n.3864A>C
c.3691A>C (p.Met1231Leu)
c.2968A>C (p.Met990Leu)
c.1519A>C (p.Met507Leu)
2g.165370171A>GCA349027725SCN2Ac.3721A>G (p.Met1241Val)
c.*2040A>G (n.*2040A>G)
c.*1708A>G (n.*1708A>G)
c.*4244A>G (n.*4244A>G)
c.*1663A>G (n.*1663A>G)
c.3325A>G (p.Met1109Val)
n.3864A>G
c.3691A>G (p.Met1231Val)
c.2968A>G (p.Met990Val)
c.1519A>G (p.Met507Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.165370171A>TCA349027728SCN2Ac.3721A>T (p.Met1241Leu)
c.*2040A>T (n.*2040A>T)
c.*1708A>T (n.*1708A>T)
c.*4244A>T (n.*4244A>T)
c.*1663A>T (n.*1663A>T)
c.3325A>T (p.Met1109Leu)
n.3864A>T
c.3691A>T (p.Met1231Leu)
c.2968A>T (p.Met990Leu)
c.1519A>T (p.Met507Leu)
2g.165370172T>ACA349027735SCN2Ac.3722T>A (p.Met1241Lys)
c.*2041T>A (n.*2041T>A)
c.*1709T>A (n.*1709T>A)
c.*4245T>A (n.*4245T>A)
c.*1664T>A (n.*1664T>A)
c.3326T>A (p.Met1109Lys)
n.3865T>A
c.3692T>A (p.Met1231Lys)
c.2969T>A (p.Met990Lys)
c.1520T>A (p.Met507Lys)
2g.165370172T>CCA349027738SCN2Ac.3722T>C (p.Met1241Thr)
c.*2041T>C (n.*2041T>C)
c.*1709T>C (n.*1709T>C)
c.*4245T>C (n.*4245T>C)
c.*1664T>C (n.*1664T>C)
c.3326T>C (p.Met1109Thr)
n.3865T>C
c.3692T>C (p.Met1231Thr)
c.2969T>C (p.Met990Thr)
c.1520T>C (p.Met507Thr)
 ClinVar dbSNP
2g.165370172T>GCA349027739SCN2Ac.3722T>G (p.Met1241Arg)
c.*2041T>G (n.*2041T>G)
c.*1709T>G (n.*1709T>G)
c.*4245T>G (n.*4245T>G)
c.*1664T>G (n.*1664T>G)
c.3326T>G (p.Met1109Arg)
n.3865T>G
c.3692T>G (p.Met1231Arg)
c.2969T>G (p.Met990Arg)
c.1520T>G (p.Met507Arg)
2g.165370172T=CA1304556588SCN2Ac.3722T= (p.Met1241=)
c.*2041T= (n.*2041T=)
c.*1709T= (n.*1709T=)
c.*4245T= (n.*4245T=)
c.*1664T= (n.*1664T=)
c.3326T= (p.Met1109=)
n.3865T=
c.3692T= (p.Met1231=)
c.2969T= (p.Met990=)
c.1520T= (p.Met507=)
2g.165370173G>ACA349027741SCN2Ac.3723G>A (p.Met1241Ile)
c.*2042G>A (n.*2042G>A)
c.*1710G>A (n.*1710G>A)
c.*4246G>A (n.*4246G>A)
c.*1665G>A (n.*1665G>A)
c.3327G>A (p.Met1109Ile)
n.3866G>A
c.3693G>A (p.Met1231Ile)
c.2970G>A (p.Met990Ile)
c.1521G>A (p.Met507Ile)
2g.165370173G>CCA349027745SCN2Ac.3723G>C (p.Met1241Ile)
c.*2042G>C (n.*2042G>C)
c.*1710G>C (n.*1710G>C)
c.*4246G>C (n.*4246G>C)
c.*1665G>C (n.*1665G>C)
c.3327G>C (p.Met1109Ile)
n.3866G>C
c.3693G>C (p.Met1231Ile)
c.2970G>C (p.Met990Ile)
c.1521G>C (p.Met507Ile)
2g.165370173G>TCA349027750SCN2Ac.3723G>T (p.Met1241Ile)
c.*2042G>T (n.*2042G>T)
c.*1710G>T (n.*1710G>T)
c.*4246G>T (n.*4246G>T)
c.*1665G>T (n.*1665G>T)
c.3327G>T (p.Met1109Ile)
n.3866G>T
c.3693G>T (p.Met1231Ile)
c.2970G>T (p.Met990Ile)
c.1521G>T (p.Met507Ile)
2g.165370174T>ACA349027752SCN2Ac.3724T>A (p.Leu1242Ile)
c.*2043T>A (n.*2043T>A)
c.*1711T>A (n.*1711T>A)
c.*4247T>A (n.*4247T>A)
c.*1666T>A (n.*1666T>A)
c.3328T>A (p.Leu1110Ile)
n.3867T>A
c.3694T>A (p.Leu1232Ile)
c.2971T>A (p.Leu991Ile)
c.1522T>A (p.Leu508Ile)
2g.165370174T>CCA429886231SCN2Ac.3724T>C (p.Leu1242=)
c.*2043T>C (n.*2043T>C)
c.*1711T>C (n.*1711T>C)
c.*4247T>C (n.*4247T>C)
c.*1666T>C (n.*1666T>C)
c.3328T>C (p.Leu1110=)
n.3867T>C
c.3694T>C (p.Leu1232=)
c.2971T>C (p.Leu991=)
c.1522T>C (p.Leu508=)
2g.165370174T>GCA349027755SCN2Ac.3724T>G (p.Leu1242Val)
c.*2043T>G (n.*2043T>G)
c.*1711T>G (n.*1711T>G)
c.*4247T>G (n.*4247T>G)
c.*1666T>G (n.*1666T>G)
c.3328T>G (p.Leu1110Val)
n.3867T>G
c.3694T>G (p.Leu1232Val)
c.2971T>G (p.Leu991Val)
c.1522T>G (p.Leu508Val)
2g.165370175T>ACA349027756SCN2Ac.3725T>A (p.Leu1242Ter)
c.*2044T>A (n.*2044T>A)
c.*1712T>A (n.*1712T>A)
c.*4248T>A (n.*4248T>A)
c.*1667T>A (n.*1667T>A)
c.3329T>A (p.Leu1110Ter)
n.3868T>A
c.3695T>A (p.Leu1232Ter)
c.2972T>A (p.Leu991Ter)
c.1523T>A (p.Leu508Ter)
2g.165370175T>CCA349027757SCN2Ac.3725T>C (p.Leu1242Ser)
c.*2044T>C (n.*2044T>C)
c.*1712T>C (n.*1712T>C)
c.*4248T>C (n.*4248T>C)
c.*1667T>C (n.*1667T>C)
c.3329T>C (p.Leu1110Ser)
n.3868T>C
c.3695T>C (p.Leu1232Ser)
c.2972T>C (p.Leu991Ser)
c.1523T>C (p.Leu508Ser)
2g.165370175T>GCA349027758SCN2Ac.3725T>G (p.Leu1242Ter)
c.*2044T>G (n.*2044T>G)
c.*1712T>G (n.*1712T>G)
c.*4248T>G (n.*4248T>G)
c.*1667T>G (n.*1667T>G)
c.3329T>G (p.Leu1110Ter)
n.3868T>G
c.3695T>G (p.Leu1232Ter)
c.2972T>G (p.Leu991Ter)
c.1523T>G (p.Leu508Ter)
2g.165370176A=CA1304556589SCN2Ac.3726A= (p.Leu1242=)
c.*2045A= (n.*2045A=)
c.*1713A= (n.*1713A=)
c.*4249A= (n.*4249A=)
c.*1668A= (n.*1668A=)
c.3330A= (p.Leu1110=)
n.3869A=
c.3696A= (p.Leu1232=)
c.2973A= (p.Leu991=)
c.1524A= (p.Leu508=)
2g.165370176A>CCA349027759SCN2Ac.3726A>C (p.Leu1242Phe)
c.*2045A>C (n.*2045A>C)
c.*1713A>C (n.*1713A>C)
c.*4249A>C (n.*4249A>C)
c.*1668A>C (n.*1668A>C)
c.3330A>C (p.Leu1110Phe)
n.3869A>C
c.3696A>C (p.Leu1232Phe)
c.2973A>C (p.Leu991Phe)
c.1524A>C (p.Leu508Phe)
2g.165370176A>GCA429886232SCN2Ac.3726A>G (p.Leu1242=)
c.*2045A>G (n.*2045A>G)
c.*1713A>G (n.*1713A>G)
c.*4249A>G (n.*4249A>G)
c.*1668A>G (n.*1668A>G)
c.3330A>G (p.Leu1110=)
n.3869A>G
c.3696A>G (p.Leu1232=)
c.2973A>G (p.Leu991=)
c.1524A>G (p.Leu508=)
2g.165370176A>TCA349027760SCN2Ac.3726A>T (p.Leu1242Phe)
c.*2045A>T (n.*2045A>T)
c.*1713A>T (n.*1713A>T)
c.*4249A>T (n.*4249A>T)
c.*1668A>T (n.*1668A>T)
c.3330A>T (p.Leu1110Phe)
n.3869A>T
c.3696A>T (p.Leu1232Phe)
c.2973A>T (p.Leu991Phe)
c.1524A>T (p.Leu508Phe)
 ClinVar dbSNP gnomAD v4
2g.165370177G>ACA349027761SCN2Ac.3727G>A (p.Glu1243Lys)
c.*2046G>A (n.*2046G>A)
c.*1714G>A (n.*1714G>A)
c.*4250G>A (n.*4250G>A)
c.*1669G>A (n.*1669G>A)
c.3331G>A (p.Glu1111Lys)
n.3870G>A
c.3697G>A (p.Glu1233Lys)
c.2974G>A (p.Glu992Lys)
c.1525G>A (p.Glu509Lys)
2g.165370177G>CCA349027762SCN2Ac.3727G>C (p.Glu1243Gln)
c.*2046G>C (n.*2046G>C)
c.*1714G>C (n.*1714G>C)
c.*4250G>C (n.*4250G>C)
c.*1669G>C (n.*1669G>C)
c.3331G>C (p.Glu1111Gln)
n.3870G>C
c.3697G>C (p.Glu1233Gln)
c.2974G>C (p.Glu992Gln)
c.1525G>C (p.Glu509Gln)
 gnomAD v4
2g.165370177G=CA1304556590SCN2Ac.3727G= (p.Glu1243=)
c.*2046G= (n.*2046G=)
c.*1714G= (n.*1714G=)
c.*4250G= (n.*4250G=)
c.*1669G= (n.*1669G=)
c.3331G= (p.Glu1111=)
n.3870G=
c.3697G= (p.Glu1233=)
c.2974G= (p.Glu992=)
c.1525G= (p.Glu509=)
2g.165370177G>TCA349027763SCN2Ac.3727G>T (p.Glu1243Ter)
c.*2046G>T (n.*2046G>T)
c.*1714G>T (n.*1714G>T)
c.*4250G>T (n.*4250G>T)
c.*1669G>T (n.*1669G>T)
c.3331G>T (p.Glu1111Ter)
n.3870G>T
c.3697G>T (p.Glu1233Ter)
c.2974G>T (p.Glu992Ter)
c.1525G>T (p.Glu509Ter)
 dbSNP
2g.165370178A>CCA349027764SCN2Ac.3728A>C (p.Glu1243Ala)
c.*2047A>C (n.*2047A>C)
c.*1715A>C (n.*1715A>C)
c.*4251A>C (n.*4251A>C)
c.*1670A>C (n.*1670A>C)
c.3332A>C (p.Glu1111Ala)
n.3871A>C
c.3698A>C (p.Glu1233Ala)
c.2975A>C (p.Glu992Ala)
c.1526A>C (p.Glu509Ala)
2g.165370178A>GCA349027765SCN2Ac.3728A>G (p.Glu1243Gly)
c.*2047A>G (n.*2047A>G)
c.*1715A>G (n.*1715A>G)
c.*4251A>G (n.*4251A>G)
c.*1670A>G (n.*1670A>G)
c.3332A>G (p.Glu1111Gly)
n.3871A>G
c.3698A>G (p.Glu1233Gly)
c.2975A>G (p.Glu992Gly)
c.1526A>G (p.Glu509Gly)
2g.165370178A>TCA349027766SCN2Ac.3728A>T (p.Glu1243Val)
c.*2047A>T (n.*2047A>T)
c.*1715A>T (n.*1715A>T)
c.*4251A>T (n.*4251A>T)
c.*1670A>T (n.*1670A>T)
c.3332A>T (p.Glu1111Val)
n.3871A>T
c.3698A>T (p.Glu1233Val)
c.2975A>T (p.Glu992Val)
c.1526A>T (p.Glu509Val)
2g.165370179A=CA1304556591SCN2Ac.3729A= (p.Glu1243=)
c.*2048A= (n.*2048A=)
c.*1716A= (n.*1716A=)
c.*4252A= (n.*4252A=)
c.*1671A= (n.*1671A=)
c.3333A= (p.Glu1111=)
n.3872A=
c.3699A= (p.Glu1233=)
c.2976A= (p.Glu992=)
c.1527A= (p.Glu509=)
2g.165370179A>CCA349027767SCN2Ac.3729A>C (p.Glu1243Asp)
c.*2048A>C (n.*2048A>C)
c.*1716A>C (n.*1716A>C)
c.*4252A>C (n.*4252A>C)
c.*1671A>C (n.*1671A>C)
c.3333A>C (p.Glu1111Asp)
n.3872A>C
c.3699A>C (p.Glu1233Asp)
c.2976A>C (p.Glu992Asp)
c.1527A>C (p.Glu509Asp)
2g.165370179A>GCA59734227SCN2Ac.3729A>G (p.Glu1243=)
c.*2048A>G (n.*2048A>G)
c.*1716A>G (n.*1716A>G)
c.*4252A>G (n.*4252A>G)
c.*1671A>G (n.*1671A>G)
c.3333A>G (p.Glu1111=)
n.3872A>G
c.3699A>G (p.Glu1233=)
c.2976A>G (p.Glu992=)
c.1527A>G (p.Glu509=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.165370179A>TCA349027768SCN2Ac.3729A>T (p.Glu1243Asp)
c.*2048A>T (n.*2048A>T)
c.*1716A>T (n.*1716A>T)
c.*4252A>T (n.*4252A>T)
c.*1671A>T (n.*1671A>T)
c.3333A>T (p.Glu1111Asp)
n.3872A>T
c.3699A>T (p.Glu1233Asp)
c.2976A>T (p.Glu992Asp)
c.1527A>T (p.Glu509Asp)
2g.165370180T>ACA349027771SCN2Ac.3730T>A (p.Tyr1244Asn)
c.*2049T>A (n.*2049T>A)
c.*1717T>A (n.*1717T>A)
c.*4253T>A (n.*4253T>A)
c.*1672T>A (n.*1672T>A)
c.3334T>A (p.Tyr1112Asn)
n.3873T>A
c.3700T>A (p.Tyr1234Asn)
c.2977T>A (p.Tyr993Asn)
c.1528T>A (p.Tyr510Asn)
2g.165370180T>CCA349027773SCN2Ac.3730T>C (p.Tyr1244His)
c.*2049T>C (n.*2049T>C)
c.*1717T>C (n.*1717T>C)
c.*4253T>C (n.*4253T>C)
c.*1672T>C (n.*1672T>C)
c.3334T>C (p.Tyr1112His)
n.3873T>C
c.3700T>C (p.Tyr1234His)
c.2977T>C (p.Tyr993His)
c.1528T>C (p.Tyr510His)
 COSMIC COSMIC
2g.165370180T>GCA349027770SCN2Ac.3730T>G (p.Tyr1244Asp)
c.*2049T>G (n.*2049T>G)
c.*1717T>G (n.*1717T>G)
c.*4253T>G (n.*4253T>G)
c.*1672T>G (n.*1672T>G)
c.3334T>G (p.Tyr1112Asp)
n.3873T>G
c.3700T>G (p.Tyr1234Asp)
c.2977T>G (p.Tyr993Asp)
c.1528T>G (p.Tyr510Asp)
2g.165370181A=CA1304556592SCN2Ac.3731A= (p.Tyr1244=)
c.*2050A= (n.*2050A=)
c.*1718A= (n.*1718A=)
c.*4254A= (n.*4254A=)
c.*1673A= (n.*1673A=)
c.3335A= (p.Tyr1112=)
n.3874A=
c.3701A= (p.Tyr1234=)
c.2978A= (p.Tyr993=)
c.1529A= (p.Tyr510=)
2g.165370181A>CCA349027775SCN2Ac.3731A>C (p.Tyr1244Ser)
c.*2050A>C (n.*2050A>C)
c.*1718A>C (n.*1718A>C)
c.*4254A>C (n.*4254A>C)
c.*1673A>C (n.*1673A>C)
c.3335A>C (p.Tyr1112Ser)
n.3874A>C
c.3701A>C (p.Tyr1234Ser)
c.2978A>C (p.Tyr993Ser)
c.1529A>C (p.Tyr510Ser)
2g.165370181A>GCA1940165SCN2Ac.3731A>G (p.Tyr1244Cys)
c.*2050A>G (n.*2050A>G)
c.*1718A>G (n.*1718A>G)
c.*4254A>G (n.*4254A>G)
c.*1673A>G (n.*1673A>G)
c.3335A>G (p.Tyr1112Cys)
n.3874A>G
c.3701A>G (p.Tyr1234Cys)
c.2978A>G (p.Tyr993Cys)
c.1529A>G (p.Tyr510Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.165370181A>TCA349027776SCN2Ac.3731A>T (p.Tyr1244Phe)
c.*2050A>T (n.*2050A>T)
c.*1718A>T (n.*1718A>T)
c.*4254A>T (n.*4254A>T)
c.*1673A>T (n.*1673A>T)
c.3335A>T (p.Tyr1112Phe)
n.3874A>T
c.3701A>T (p.Tyr1234Phe)
c.2978A>T (p.Tyr993Phe)
c.1529A>T (p.Tyr510Phe)
2g.165370182T>ACA349027777SCN2Ac.3732T>A (p.Tyr1244Ter)
c.*2051T>A (n.*2051T>A)
c.*1719T>A (n.*1719T>A)
c.*4255T>A (n.*4255T>A)
c.*1674T>A (n.*1674T>A)
c.3336T>A (p.Tyr1112Ter)
n.3875T>A
c.3702T>A (p.Tyr1234Ter)
c.2979T>A (p.Tyr993Ter)
c.1530T>A (p.Tyr510Ter)
2g.165370182T>CCA429886233SCN2Ac.3732T>C (p.Tyr1244=)
c.*2051T>C (n.*2051T>C)
c.*1719T>C (n.*1719T>C)
c.*4255T>C (n.*4255T>C)
c.*1674T>C (n.*1674T>C)
c.3336T>C (p.Tyr1112=)
n.3875T>C
c.3702T>C (p.Tyr1234=)
c.2979T>C (p.Tyr993=)
c.1530T>C (p.Tyr510=)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2g.165370182T>GCA349027778SCN2Ac.3732T>G (p.Tyr1244Ter)
c.*2051T>G (n.*2051T>G)
c.*1719T>G (n.*1719T>G)
c.*4255T>G (n.*4255T>G)
c.*1674T>G (n.*1674T>G)
c.3336T>G (p.Tyr1112Ter)
n.3875T>G
c.3702T>G (p.Tyr1234Ter)
c.2979T>G (p.Tyr993Ter)
c.1530T>G (p.Tyr510Ter)
2g.165370182T=CA1304556593SCN2Ac.3732T= (p.Tyr1244=)
c.*2051T= (n.*2051T=)
c.*1719T= (n.*1719T=)
c.*4255T= (n.*4255T=)
c.*1674T= (n.*1674T=)
c.3336T= (p.Tyr1112=)
n.3875T=
c.3702T= (p.Tyr1234=)
c.2979T= (p.Tyr993=)
c.1530T= (p.Tyr510=)
2g.165370183G>ACA1940166SCN2Ac.3733G>A (p.Ala1245Thr)
c.*2052G>A (n.*2052G>A)
c.*1720G>A (n.*1720G>A)
c.*4256G>A (n.*4256G>A)
c.*1675G>A (n.*1675G>A)
c.3337G>A (p.Ala1113Thr)
n.3876G>A
c.3703G>A (p.Ala1235Thr)
c.2980G>A (p.Ala994Thr)
c.1531G>A (p.Ala511Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.165370183G>CCA349027781SCN2Ac.3733G>C (p.Ala1245Pro)
c.*2052G>C (n.*2052G>C)
c.*1720G>C (n.*1720G>C)
c.*4256G>C (n.*4256G>C)
c.*1675G>C (n.*1675G>C)
c.3337G>C (p.Ala1113Pro)
n.3876G>C
c.3703G>C (p.Ala1235Pro)
c.2980G>C (p.Ala994Pro)
c.1531G>C (p.Ala511Pro)
2g.165370183G=CA1304556594SCN2Ac.3733G= (p.Ala1245=)
c.*2052G= (n.*2052G=)
c.*1720G= (n.*1720G=)
c.*4256G= (n.*4256G=)
c.*1675G= (n.*1675G=)
c.3337G= (p.Ala1113=)
n.3876G=
c.3703G= (p.Ala1235=)
c.2980G= (p.Ala994=)
c.1531G= (p.Ala511=)
2g.165370183G>TCA349027785SCN2Ac.3733G>T (p.Ala1245Ser)
c.*2052G>T (n.*2052G>T)
c.*1720G>T (n.*1720G>T)
c.*4256G>T (n.*4256G>T)
c.*1675G>T (n.*1675G>T)
c.3337G>T (p.Ala1113Ser)
n.3876G>T
c.3703G>T (p.Ala1235Ser)
c.2980G>T (p.Ala994Ser)
c.1531G>T (p.Ala511Ser)
2g.165370184C>ACA349027788SCN2Ac.3734C>A (p.Ala1245Asp)
c.*2053C>A (n.*2053C>A)
c.*1721C>A (n.*1721C>A)
c.*4257C>A (n.*4257C>A)
c.*1676C>A (n.*1676C>A)
c.3338C>A (p.Ala1113Asp)
n.3877C>A
c.3704C>A (p.Ala1235Asp)
c.2981C>A (p.Ala994Asp)
c.1532C>A (p.Ala511Asp)
2g.165370184C=CA1304556595SCN2Ac.3734C= (p.Ala1245=)
c.*2053C= (n.*2053C=)
c.*1721C= (n.*1721C=)
c.*4257C= (n.*4257C=)
c.*1676C= (n.*1676C=)
c.3338C= (p.Ala1113=)
n.3877C=
c.3704C= (p.Ala1235=)
c.2981C= (p.Ala994=)
c.1532C= (p.Ala511=)
2g.165370184C>GCA349027790SCN2Ac.3734C>G (p.Ala1245Gly)
c.*2053C>G (n.*2053C>G)
c.*1721C>G (n.*1721C>G)
c.*4257C>G (n.*4257C>G)
c.*1676C>G (n.*1676C>G)
c.3338C>G (p.Ala1113Gly)
n.3877C>G
c.3704C>G (p.Ala1235Gly)
c.2981C>G (p.Ala994Gly)
c.1532C>G (p.Ala511Gly)
2g.165370184C>TCA1940167SCN2Ac.3734C>T (p.Ala1245Val)
c.*2053C>T (n.*2053C>T)
c.*1721C>T (n.*1721C>T)
c.*4257C>T (n.*4257C>T)
c.*1676C>T (n.*1676C>T)
c.3338C>T (p.Ala1113Val)
n.3877C>T
c.3704C>T (p.Ala1235Val)
c.2981C>T (p.Ala994Val)
c.1532C>T (p.Ala511Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.165370185T>ACA429886234SCN2Ac.3735T>A (p.Ala1245=)
c.*2054T>A (n.*2054T>A)
c.*1722T>A (n.*1722T>A)
c.*4258T>A (n.*4258T>A)
c.*1677T>A (n.*1677T>A)
c.3339T>A (p.Ala1113=)
n.3878T>A
c.3705T>A (p.Ala1235=)
c.2982T>A (p.Ala994=)
c.1533T>A (p.Ala511=)
2g.165370185T>CCA1940168SCN2Ac.3735T>C (p.Ala1245=)
c.*2054T>C (n.*2054T>C)
c.*1722T>C (n.*1722T>C)
c.*4258T>C (n.*4258T>C)
c.*1677T>C (n.*1677T>C)
c.3339T>C (p.Ala1113=)
n.3878T>C
c.3705T>C (p.Ala1235=)
c.2982T>C (p.Ala994=)
c.1533T>C (p.Ala511=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.165370185T>GCA429886235SCN2Ac.3735T>G (p.Ala1245=)
c.*2054T>G (n.*2054T>G)
c.*1722T>G (n.*1722T>G)
c.*4258T>G (n.*4258T>G)
c.*1677T>G (n.*1677T>G)
c.3339T>G (p.Ala1113=)
n.3878T>G
c.3705T>G (p.Ala1235=)
c.2982T>G (p.Ala994=)
c.1533T>G (p.Ala511=)
2g.165370185T=CA1304556596SCN2Ac.3735T= (p.Ala1245=)
c.*2054T= (n.*2054T=)
c.*1722T= (n.*1722T=)
c.*4258T= (n.*4258T=)
c.*1677T= (n.*1677T=)
c.3339T= (p.Ala1113=)
n.3878T=
c.3705T= (p.Ala1235=)
c.2982T= (p.Ala994=)
c.1533T= (p.Ala511=)
2g.165370186G>ACA349027798SCN2Ac.3736G>A (p.Asp1246Asn)
c.*2055G>A (n.*2055G>A)
c.*1723G>A (n.*1723G>A)
c.*4259G>A (n.*4259G>A)
c.*1678G>A (n.*1678G>A)
c.3340G>A (p.Asp1114Asn)
n.3879G>A
c.3706G>A (p.Asp1236Asn)
c.2983G>A (p.Asp995Asn)
c.1534G>A (p.Asp512Asn)
2g.165370186G>CCA349027795SCN2Ac.3736G>C (p.Asp1246His)
c.*2055G>C (n.*2055G>C)
c.*1723G>C (n.*1723G>C)
c.*4259G>C (n.*4259G>C)
c.*1678G>C (n.*1678G>C)
c.3340G>C (p.Asp1114His)
n.3879G>C
c.3706G>C (p.Asp1236His)
c.2983G>C (p.Asp995His)
c.1534G>C (p.Asp512His)
2g.165370186G>TCA349027797SCN2Ac.3736G>T (p.Asp1246Tyr)
c.*2055G>T (n.*2055G>T)
c.*1723G>T (n.*1723G>T)
c.*4259G>T (n.*4259G>T)
c.*1678G>T (n.*1678G>T)
c.3340G>T (p.Asp1114Tyr)
n.3879G>T
c.3706G>T (p.Asp1236Tyr)
c.2983G>T (p.Asp995Tyr)
c.1534G>T (p.Asp512Tyr)
2g.165370186dupCA1139657292SCN2Ac.3736dup (p.Asp1246GlyfsTer?)
c.*2055dup (n.*2055dup)
c.*1723dup (n.*1723dup)
c.*4259dup (n.*4259dup)
c.*1678dup (n.*1678dup)
c.3340dup (p.Asp1114GlyfsTer?)
n.3879dup
c.3706dup (p.Asp1236GlyfsTer?)
c.2983dup (p.Asp995GlyfsTer?)
c.1534dup (p.Asp512GlyfsTer?)
 ClinVar dbSNP
2g.165370187A>CCA349027807SCN2Ac.3737A>C (p.Asp1246Ala)
c.*2056A>C (n.*2056A>C)
c.*1724A>C (n.*1724A>C)
c.*4260A>C (n.*4260A>C)
c.*1679A>C (n.*1679A>C)
c.3341A>C (p.Asp1114Ala)
n.3880A>C
c.3707A>C (p.Asp1236Ala)
c.2984A>C (p.Asp995Ala)
c.1535A>C (p.Asp512Ala)
2g.165370187A>GCA349027808SCN2Ac.3737A>G (p.Asp1246Gly)
c.*2056A>G (n.*2056A>G)
c.*1724A>G (n.*1724A>G)
c.*4260A>G (n.*4260A>G)
c.*1679A>G (n.*1679A>G)
c.3341A>G (p.Asp1114Gly)
n.3880A>G
c.3707A>G (p.Asp1236Gly)
c.2984A>G (p.Asp995Gly)
c.1535A>G (p.Asp512Gly)
2g.165370187A>TCA349027813SCN2Ac.3737A>T (p.Asp1246Val)
c.*2056A>T (n.*2056A>T)
c.*1724A>T (n.*1724A>T)
c.*4260A>T (n.*4260A>T)
c.*1679A>T (n.*1679A>T)
c.3341A>T (p.Asp1114Val)
n.3880A>T
c.3707A>T (p.Asp1236Val)
c.2984A>T (p.Asp995Val)
c.1535A>T (p.Asp512Val)
2g.165370188C>ACA349027817SCN2Ac.3738C>A (p.Asp1246Glu)
c.*2057C>A (n.*2057C>A)
c.*1725C>A (n.*1725C>A)
c.*4261C>A (n.*4261C>A)
c.*1680C>A (n.*1680C>A)
c.3342C>A (p.Asp1114Glu)
n.3881C>A
c.3708C>A (p.Asp1236Glu)
c.2985C>A (p.Asp995Glu)
c.1536C>A (p.Asp512Glu)
2g.165370188C=CA1304556597SCN2Ac.3738C= (p.Asp1246=)
c.*2057C= (n.*2057C=)
c.*1725C= (n.*1725C=)
c.*4261C= (n.*4261C=)
c.*1680C= (n.*1680C=)
c.3342C= (p.Asp1114=)
n.3881C=
c.3708C= (p.Asp1236=)
c.2985C= (p.Asp995=)
c.1536C= (p.Asp512=)
2g.165370188C>GCA349027828SCN2Ac.3738C>G (p.Asp1246Glu)
c.*2057C>G (n.*2057C>G)
c.*1725C>G (n.*1725C>G)
c.*4261C>G (n.*4261C>G)
c.*1680C>G (n.*1680C>G)
c.3342C>G (p.Asp1114Glu)
n.3881C>G
c.3708C>G (p.Asp1236Glu)
c.2985C>G (p.Asp995Glu)
c.1536C>G (p.Asp512Glu)
 ClinVar dbSNP
2g.165370188C>TCA429886236SCN2Ac.3738C>T (p.Asp1246=)
c.*2057C>T (n.*2057C>T)
c.*1725C>T (n.*1725C>T)
c.*4261C>T (n.*4261C>T)
c.*1680C>T (n.*1680C>T)
c.3342C>T (p.Asp1114=)
n.3881C>T
c.3708C>T (p.Asp1236=)
c.2985C>T (p.Asp995=)
c.1536C>T (p.Asp512=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.165370189A=CA1304556598SCN2Ac.3739A= (p.Lys1247=)
c.*2058A= (n.*2058A=)
c.*1726A= (n.*1726A=)
c.*4262A= (n.*4262A=)
c.*1681A= (n.*1681A=)
c.3343A= (p.Lys1115=)
n.3882A=
c.3709A= (p.Lys1237=)
c.2986A= (p.Lys996=)
c.1537A= (p.Lys513=)
2g.165370189A>CCA349027831SCN2Ac.3739A>C (p.Lys1247Gln)
c.*2058A>C (n.*2058A>C)
c.*1726A>C (n.*1726A>C)
c.*4262A>C (n.*4262A>C)
c.*1681A>C (n.*1681A>C)
c.3343A>C (p.Lys1115Gln)
n.3882A>C
c.3709A>C (p.Lys1237Gln)
c.2986A>C (p.Lys996Gln)
c.1537A>C (p.Lys513Gln)
2g.165370189A>GCA349027847SCN2Ac.3739A>G (p.Lys1247Glu)
c.*2058A>G (n.*2058A>G)
c.*1726A>G (n.*1726A>G)
c.*4262A>G (n.*4262A>G)
c.*1681A>G (n.*1681A>G)
c.3343A>G (p.Lys1115Glu)
n.3882A>G
c.3709A>G (p.Lys1237Glu)
c.2986A>G (p.Lys996Glu)
c.1537A>G (p.Lys513Glu)
2g.165370189A>TCA349027832SCN2Ac.3739A>T (p.Lys1247Ter)
c.*2058A>T (n.*2058A>T)
c.*1726A>T (n.*1726A>T)
c.*4262A>T (n.*4262A>T)
c.*1681A>T (n.*1681A>T)
c.3343A>T (p.Lys1115Ter)
n.3882A>T
c.3709A>T (p.Lys1237Ter)
c.2986A>T (p.Lys996Ter)
c.1537A>T (p.Lys513Ter)
 dbSNP
2g.165370190A>CCA349027850SCN2Ac.3740A>C (p.Lys1247Thr)
c.*2059A>C (n.*2059A>C)
c.*1727A>C (n.*1727A>C)
c.*4263A>C (n.*4263A>C)
c.*1682A>C (n.*1682A>C)
c.3344A>C (p.Lys1115Thr)
n.3883A>C
c.3710A>C (p.Lys1237Thr)
c.2987A>C (p.Lys996Thr)
c.1538A>C (p.Lys513Thr)
 gnomAD v4
2g.165370190A>GCA349027856SCN2Ac.3740A>G (p.Lys1247Arg)
c.*2059A>G (n.*2059A>G)
c.*1727A>G (n.*1727A>G)
c.*4263A>G (n.*4263A>G)
c.*1682A>G (n.*1682A>G)
c.3344A>G (p.Lys1115Arg)
n.3883A>G
c.3710A>G (p.Lys1237Arg)
c.2987A>G (p.Lys996Arg)
c.1538A>G (p.Lys513Arg)
2g.165370190A>TCA349027858SCN2Ac.3740A>T (p.Lys1247Met)
c.*2059A>T (n.*2059A>T)
c.*1727A>T (n.*1727A>T)
c.*4263A>T (n.*4263A>T)
c.*1682A>T (n.*1682A>T)
c.3344A>T (p.Lys1115Met)
n.3883A>T
c.3710A>T (p.Lys1237Met)
c.2987A>T (p.Lys996Met)
c.1538A>T (p.Lys513Met)
2g.165370191G>ACA429886237SCN2Ac.3741G>A (p.Lys1247=)
c.*2060G>A (n.*2060G>A)
c.*1728G>A (n.*1728G>A)
c.*4264G>A (n.*4264G>A)
c.*1683G>A (n.*1683G>A)
c.3345G>A (p.Lys1115=)
n.3884G>A
c.3711G>A (p.Lys1237=)
c.2988G>A (p.Lys996=)
c.1539G>A (p.Lys513=)
2g.165370191G>CCA349027871SCN2Ac.3741G>C (p.Lys1247Asn)
c.*2060G>C (n.*2060G>C)
c.*1728G>C (n.*1728G>C)
c.*4264G>C (n.*4264G>C)
c.*1683G>C (n.*1683G>C)
c.3345G>C (p.Lys1115Asn)
n.3884G>C
c.3711G>C (p.Lys1237Asn)
c.2988G>C (p.Lys996Asn)
c.1539G>C (p.Lys513Asn)
 gnomAD v4
2g.165370191G>TCA349027872SCN2Ac.3741G>T (p.Lys1247Asn)
c.*2060G>T (n.*2060G>T)
c.*1728G>T (n.*1728G>T)
c.*4264G>T (n.*4264G>T)
c.*1683G>T (n.*1683G>T)
c.3345G>T (p.Lys1115Asn)
n.3884G>T
c.3711G>T (p.Lys1237Asn)
c.2988G>T (p.Lys996Asn)
c.1539G>T (p.Lys513Asn)
2g.165370192G>ACA349027873SCN2Ac.3742G>A (p.Val1248Ile)
c.*2061G>A (n.*2061G>A)
c.*1729G>A (n.*1729G>A)
c.*4265G>A (n.*4265G>A)
c.*1684G>A (n.*1684G>A)
c.3346G>A (p.Val1116Ile)
n.3885G>A
c.3712G>A (p.Val1238Ile)
c.2989G>A (p.Val997Ile)
c.1540G>A (p.Val514Ile)
2g.165370192G>CCA1940169SCN2Ac.3742G>C (p.Val1248Leu)
c.*2061G>C (n.*2061G>C)
c.*1729G>C (n.*1729G>C)
c.*4265G>C (n.*4265G>C)
c.*1684G>C (n.*1684G>C)
c.3346G>C (p.Val1116Leu)
n.3885G>C
c.3712G>C (p.Val1238Leu)
c.2989G>C (p.Val997Leu)
c.1540G>C (p.Val514Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.165370192G=CA1304556599SCN2Ac.3742G= (p.Val1248=)
c.*2061G= (n.*2061G=)
c.*1729G= (n.*1729G=)
c.*4265G= (n.*4265G=)
c.*1684G= (n.*1684G=)
c.3346G= (p.Val1116=)
n.3885G=
c.3712G= (p.Val1238=)
c.2989G= (p.Val997=)
c.1540G= (p.Val514=)
2g.165370192G>TCA349027874SCN2Ac.3742G>T (p.Val1248Phe)
c.*2061G>T (n.*2061G>T)
c.*1729G>T (n.*1729G>T)
c.*4265G>T (n.*4265G>T)
c.*1684G>T (n.*1684G>T)
c.3346G>T (p.Val1116Phe)
n.3885G>T
c.3712G>T (p.Val1238Phe)
c.2989G>T (p.Val997Phe)
c.1540G>T (p.Val514Phe)
2g.165370193T>ACA349027879SCN2Ac.3743T>A (p.Val1248Asp)
c.*2062T>A (n.*2062T>A)
c.*1730T>A (n.*1730T>A)
c.*4266T>A (n.*4266T>A)
c.*1685T>A (n.*1685T>A)
c.3347T>A (p.Val1116Asp)
n.3886T>A
c.3713T>A (p.Val1238Asp)
c.2990T>A (p.Val997Asp)
c.1541T>A (p.Val514Asp)
2g.165370193T>CCA349027882SCN2Ac.3743T>C (p.Val1248Ala)
c.*2062T>C (n.*2062T>C)
c.*1730T>C (n.*1730T>C)
c.*4266T>C (n.*4266T>C)
c.*1685T>C (n.*1685T>C)
c.3347T>C (p.Val1116Ala)
n.3886T>C
c.3713T>C (p.Val1238Ala)
c.2990T>C (p.Val997Ala)
c.1541T>C (p.Val514Ala)
2g.165370193T>GCA349027884SCN2Ac.3743T>G (p.Val1248Gly)
c.*2062T>G (n.*2062T>G)
c.*1730T>G (n.*1730T>G)
c.*4266T>G (n.*4266T>G)
c.*1685T>G (n.*1685T>G)
c.3347T>G (p.Val1116Gly)
n.3886T>G
c.3713T>G (p.Val1238Gly)
c.2990T>G (p.Val997Gly)
c.1541T>G (p.Val514Gly)
2g.165370194T>ACA429886240SCN2Ac.3744T>A (p.Val1248=)
c.*2063T>A (n.*2063T>A)
c.*1731T>A (n.*1731T>A)
c.*4267T>A (n.*4267T>A)
c.*1686T>A (n.*1686T>A)
c.3348T>A (p.Val1116=)
n.3887T>A
c.3714T>A (p.Val1238=)
c.2991T>A (p.Val997=)
c.1542T>A (p.Val514=)
2g.165370194T>CCA429886239SCN2Ac.3744T>C (p.Val1248=)
c.*2063T>C (n.*2063T>C)
c.*1731T>C (n.*1731T>C)
c.*4267T>C (n.*4267T>C)
c.*1686T>C (n.*1686T>C)
c.3348T>C (p.Val1116=)
n.3887T>C
c.3714T>C (p.Val1238=)
c.2991T>C (p.Val997=)
c.1542T>C (p.Val514=)
2g.165370194T>GCA429886238SCN2Ac.3744T>G (p.Val1248=)
c.*2063T>G (n.*2063T>G)
c.*1731T>G (n.*1731T>G)
c.*4267T>G (n.*4267T>G)
c.*1686T>G (n.*1686T>G)
c.3348T>G (p.Val1116=)
n.3887T>G
c.3714T>G (p.Val1238=)
c.2991T>G (p.Val997=)
c.1542T>G (p.Val514=)
 gnomAD v4
2g.165370195T>ACA349027886SCN2Ac.3745T>A (p.Phe1249Ile)
c.*2064T>A (n.*2064T>A)
c.*1732T>A (n.*1732T>A)
c.*4268T>A (n.*4268T>A)
c.*1687T>A (n.*1687T>A)
c.3349T>A (p.Phe1117Ile)
n.3888T>A
c.3715T>A (p.Phe1239Ile)
c.2992T>A (p.Phe998Ile)
c.1543T>A (p.Phe515Ile)
2g.165370195T>CCA349027894SCN2Ac.3745T>C (p.Phe1249Leu)
c.*2064T>C (n.*2064T>C)
c.*1732T>C (n.*1732T>C)
c.*4268T>C (n.*4268T>C)
c.*1687T>C (n.*1687T>C)
c.3349T>C (p.Phe1117Leu)
n.3888T>C
c.3715T>C (p.Phe1239Leu)
c.2992T>C (p.Phe998Leu)
c.1543T>C (p.Phe515Leu)
2g.165370195T>GCA349027890SCN2Ac.3745T>G (p.Phe1249Val)
c.*2064T>G (n.*2064T>G)
c.*1732T>G (n.*1732T>G)
c.*4268T>G (n.*4268T>G)
c.*1687T>G (n.*1687T>G)
c.3349T>G (p.Phe1117Val)
n.3888T>G
c.3715T>G (p.Phe1239Val)
c.2992T>G (p.Phe998Val)
c.1543T>G (p.Phe515Val)
 gnomAD v4
2g.165370196T>ACA349027896SCN2Ac.3746T>A (p.Phe1249Tyr)
c.*2065T>A (n.*2065T>A)
c.*1733T>A (n.*1733T>A)
c.*4269T>A (n.*4269T>A)
c.*1688T>A (n.*1688T>A)
c.3350T>A (p.Phe1117Tyr)
n.3889T>A
c.3716T>A (p.Phe1239Tyr)
c.2993T>A (p.Phe998Tyr)
c.1544T>A (p.Phe515Tyr)
2g.165370196T>CCA349027900SCN2Ac.3746T>C (p.Phe1249Ser)
c.*2065T>C (n.*2065T>C)
c.*1733T>C (n.*1733T>C)
c.*4269T>C (n.*4269T>C)
c.*1688T>C (n.*1688T>C)
c.3350T>C (p.Phe1117Ser)
n.3889T>C
c.3716T>C (p.Phe1239Ser)
c.2993T>C (p.Phe998Ser)
c.1544T>C (p.Phe515Ser)
2g.165370196T>GCA349027903SCN2Ac.3746T>G (p.Phe1249Cys)
c.*2065T>G (n.*2065T>G)
c.*1733T>G (n.*1733T>G)
c.*4269T>G (n.*4269T>G)
c.*1688T>G (n.*1688T>G)
c.3350T>G (p.Phe1117Cys)
n.3889T>G
c.3716T>G (p.Phe1239Cys)
c.2993T>G (p.Phe998Cys)
c.1544T>G (p.Phe515Cys)
2g.165370197C>ACA349027905SCN2Ac.3747C>A (p.Phe1249Leu)
c.*2066C>A (n.*2066C>A)
c.*1734C>A (n.*1734C>A)
c.*4270C>A (n.*4270C>A)
c.*1689C>A (n.*1689C>A)
c.3351C>A (p.Phe1117Leu)
n.3890C>A
c.3717C>A (p.Phe1239Leu)
c.2994C>A (p.Phe998Leu)
c.1545C>A (p.Phe515Leu)
2g.165370197C>GCA349027909SCN2Ac.3747C>G (p.Phe1249Leu)
c.*2066C>G (n.*2066C>G)
c.*1734C>G (n.*1734C>G)
c.*4270C>G (n.*4270C>G)
c.*1689C>G (n.*1689C>G)
c.3351C>G (p.Phe1117Leu)
n.3890C>G
c.3717C>G (p.Phe1239Leu)
c.2994C>G (p.Phe998Leu)
c.1545C>G (p.Phe515Leu)
2g.165370197C>TCA429886242SCN2Ac.3747C>T (p.Phe1249=)
c.*2066C>T (n.*2066C>T)
c.*1734C>T (n.*1734C>T)
c.*4270C>T (n.*4270C>T)
c.*1689C>T (n.*1689C>T)
c.3351C>T (p.Phe1117=)
n.3890C>T
c.3717C>T (p.Phe1239=)
c.2994C>T (p.Phe998=)
c.1545C>T (p.Phe515=)
2g.165370198A>CCA349027910SCN2Ac.3748A>C (p.Thr1250Pro)
c.*2067A>C (n.*2067A>C)
c.*1735A>C (n.*1735A>C)
c.*4271A>C (n.*4271A>C)
c.*1690A>C (n.*1690A>C)
c.3352A>C (p.Thr1118Pro)
n.3891A>C
c.3718A>C (p.Thr1240Pro)
c.2995A>C (p.Thr999Pro)
c.1546A>C (p.Thr516Pro)
2g.165370198A>GCA349027912SCN2Ac.3748A>G (p.Thr1250Ala)
c.*2067A>G (n.*2067A>G)
c.*1735A>G (n.*1735A>G)
c.*4271A>G (n.*4271A>G)
c.*1690A>G (n.*1690A>G)
c.3352A>G (p.Thr1118Ala)
n.3891A>G
c.3718A>G (p.Thr1240Ala)
c.2995A>G (p.Thr999Ala)
c.1546A>G (p.Thr516Ala)
2g.165370198A>TCA349027915SCN2Ac.3748A>T (p.Thr1250Ser)
c.*2067A>T (n.*2067A>T)
c.*1735A>T (n.*1735A>T)
c.*4271A>T (n.*4271A>T)
c.*1690A>T (n.*1690A>T)
c.3352A>T (p.Thr1118Ser)
n.3891A>T
c.3718A>T (p.Thr1240Ser)
c.2995A>T (p.Thr999Ser)
c.1546A>T (p.Thr516Ser)
2g.165370199C>ACA349027917SCN2Ac.3749C>A (p.Thr1250Asn)
c.*2068C>A (n.*2068C>A)
c.*1736C>A (n.*1736C>A)
c.*4272C>A (n.*4272C>A)
c.*1691C>A (n.*1691C>A)
c.3353C>A (p.Thr1118Asn)
n.3892C>A
c.3719C>A (p.Thr1240Asn)
c.2996C>A (p.Thr999Asn)
c.1547C>A (p.Thr516Asn)
2g.165370199C=CA1304556600SCN2Ac.3749C= (p.Thr1250=)
c.*2068C= (n.*2068C=)
c.*1736C= (n.*1736C=)
c.*4272C= (n.*4272C=)
c.*1691C= (n.*1691C=)
c.3353C= (p.Thr1118=)
n.3892C=
c.3719C= (p.Thr1240=)
c.2996C= (p.Thr999=)
c.1547C= (p.Thr516=)
2g.165370199C>GCA349027919SCN2Ac.3749C>G (p.Thr1250Ser)
c.*2068C>G (n.*2068C>G)
c.*1736C>G (n.*1736C>G)
c.*4272C>G (n.*4272C>G)
c.*1691C>G (n.*1691C>G)
c.3353C>G (p.Thr1118Ser)
n.3892C>G
c.3719C>G (p.Thr1240Ser)
c.2996C>G (p.Thr999Ser)
c.1547C>G (p.Thr516Ser)
2g.165370199C>TCA349027921SCN2Ac.3749C>T (p.Thr1250Ile)
c.*2068C>T (n.*2068C>T)
c.*1736C>T (n.*1736C>T)
c.*4272C>T (n.*4272C>T)
c.*1691C>T (n.*1691C>T)
c.3353C>T (p.Thr1118Ile)
n.3892C>T
c.3719C>T (p.Thr1240Ile)
c.2996C>T (p.Thr999Ile)
c.1547C>T (p.Thr516Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.165370200T>ACA429886243SCN2Ac.3750T>A (p.Thr1250=)
c.*2069T>A (n.*2069T>A)
c.*1737T>A (n.*1737T>A)
c.*4273T>A (n.*4273T>A)
c.*1692T>A (n.*1692T>A)
c.3354T>A (p.Thr1118=)
n.3893T>A
c.3720T>A (p.Thr1240=)
c.2997T>A (p.Thr999=)
c.1548T>A (p.Thr516=)
2g.165370200T>CCA429886244SCN2Ac.3750T>C (p.Thr1250=)
c.*2069T>C (n.*2069T>C)
c.*1737T>C (n.*1737T>C)
c.*4273T>C (n.*4273T>C)
c.*1692T>C (n.*1692T>C)
c.3354T>C (p.Thr1118=)
n.3893T>C
c.3720T>C (p.Thr1240=)
c.2997T>C (p.Thr999=)
c.1548T>C (p.Thr516=)
 dbSNP gnomAD v3 gnomAD v4
2g.165370200T>GCA429886245SCN2Ac.3750T>G (p.Thr1250=)
c.*2069T>G (n.*2069T>G)
c.*1737T>G (n.*1737T>G)
c.*4273T>G (n.*4273T>G)
c.*1692T>G (n.*1692T>G)
c.3354T>G (p.Thr1118=)
n.3893T>G
c.3720T>G (p.Thr1240=)
c.2997T>G (p.Thr999=)
c.1548T>G (p.Thr516=)
2g.165370200T=CA1304556601SCN2Ac.3750T= (p.Thr1250=)
c.*2069T= (n.*2069T=)
c.*1737T= (n.*1737T=)
c.*4273T= (n.*4273T=)
c.*1692T= (n.*1692T=)
c.3354T= (p.Thr1118=)
n.3893T=
c.3720T= (p.Thr1240=)
c.2997T= (p.Thr999=)
c.1548T= (p.Thr516=)
2g.165370201T>ACA349027936SCN2Ac.3751T>A (p.Tyr1251Asn)
c.*2070T>A (n.*2070T>A)
c.*1738T>A (n.*1738T>A)
c.*4274T>A (n.*4274T>A)
c.*1693T>A (n.*1693T>A)
c.3355T>A (p.Tyr1119Asn)
n.3894T>A
c.3721T>A (p.Tyr1241Asn)
c.2998T>A (p.Tyr1000Asn)
c.1549T>A (p.Tyr517Asn)
2g.165370201T>CCA349027933SCN2Ac.3751T>C (p.Tyr1251His)
c.*2070T>C (n.*2070T>C)
c.*1738T>C (n.*1738T>C)
c.*4274T>C (n.*4274T>C)
c.*1693T>C (n.*1693T>C)
c.3355T>C (p.Tyr1119His)
n.3894T>C
c.3721T>C (p.Tyr1241His)
c.2998T>C (p.Tyr1000His)
c.1549T>C (p.Tyr517His)
2g.165370201T>GCA349027924SCN2Ac.3751T>G (p.Tyr1251Asp)
c.*2070T>G (n.*2070T>G)
c.*1738T>G (n.*1738T>G)
c.*4274T>G (n.*4274T>G)
c.*1693T>G (n.*1693T>G)
c.3355T>G (p.Tyr1119Asp)
n.3894T>G
c.3721T>G (p.Tyr1241Asp)
c.2998T>G (p.Tyr1000Asp)
c.1549T>G (p.Tyr517Asp)
2g.165370202A=CA1304556602SCN2Ac.3752A= (p.Tyr1251=)
c.*2071A= (n.*2071A=)
c.*1739A= (n.*1739A=)
c.*4275A= (n.*4275A=)
c.*1694A= (n.*1694A=)
c.3356A= (p.Tyr1119=)
n.3895A=
c.3722A= (p.Tyr1241=)
c.2999A= (p.Tyr1000=)
c.1550A= (p.Tyr517=)
2g.165370202A>CCA349027937SCN2Ac.3752A>C (p.Tyr1251Ser)
c.*2071A>C (n.*2071A>C)
c.*1739A>C (n.*1739A>C)
c.*4275A>C (n.*4275A>C)
c.*1694A>C (n.*1694A>C)
c.3356A>C (p.Tyr1119Ser)
n.3895A>C
c.3722A>C (p.Tyr1241Ser)
c.2999A>C (p.Tyr1000Ser)
c.1550A>C (p.Tyr517Ser)
2g.165370202A>GCA349027940SCN2Ac.3752A>G (p.Tyr1251Cys)
c.*2071A>G (n.*2071A>G)
c.*1739A>G (n.*1739A>G)
c.*4275A>G (n.*4275A>G)
c.*1694A>G (n.*1694A>G)
c.3356A>G (p.Tyr1119Cys)
n.3895A>G
c.3722A>G (p.Tyr1241Cys)
c.2999A>G (p.Tyr1000Cys)
c.1550A>G (p.Tyr517Cys)
2g.165370202A>TCA349027941SCN2Ac.3752A>T (p.Tyr1251Phe)
c.*2071A>T (n.*2071A>T)
c.*1739A>T (n.*1739A>T)
c.*4275A>T (n.*4275A>T)
c.*1694A>T (n.*1694A>T)
c.3356A>T (p.Tyr1119Phe)
n.3895A>T
c.3722A>T (p.Tyr1241Phe)
c.2999A>T (p.Tyr1000Phe)
c.1550A>T (p.Tyr517Phe)
 dbSNP
2g.165370203C>ACA349027946SCN2Ac.3753C>A (p.Tyr1251Ter)
c.*2072C>A (n.*2072C>A)
c.*1740C>A (n.*1740C>A)
c.*4276C>A (n.*4276C>A)
c.*1695C>A (n.*1695C>A)
c.3357C>A (p.Tyr1119Ter)
n.3896C>A
c.3723C>A (p.Tyr1241Ter)
c.3000C>A (p.Tyr1000Ter)
c.1551C>A (p.Tyr517Ter)
2g.165370203C=CA1304556603SCN2Ac.3753C= (p.Tyr1251=)
c.*2072C= (n.*2072C=)
c.*1740C= (n.*1740C=)
c.*4276C= (n.*4276C=)
c.*1695C= (n.*1695C=)
c.3357C= (p.Tyr1119=)
n.3896C=
c.3723C= (p.Tyr1241=)
c.3000C= (p.Tyr1000=)
c.1551C= (p.Tyr517=)
2g.165370203C>GCA349027949SCN2Ac.3753C>G (p.Tyr1251Ter)
c.*2072C>G (n.*2072C>G)
c.*1740C>G (n.*1740C>G)
c.*4276C>G (n.*4276C>G)
c.*1695C>G (n.*1695C>G)
c.3357C>G (p.Tyr1119Ter)
n.3896C>G
c.3723C>G (p.Tyr1241Ter)
c.3000C>G (p.Tyr1000Ter)
c.1551C>G (p.Tyr517Ter)
2g.165370203C>TCA1940170SCN2Ac.3753C>T (p.Tyr1251=)
c.*2072C>T (n.*2072C>T)
c.*1740C>T (n.*1740C>T)
c.*4276C>T (n.*4276C>T)
c.*1695C>T (n.*1695C>T)
c.3357C>T (p.Tyr1119=)
n.3896C>T
c.3723C>T (p.Tyr1241=)
c.3000C>T (p.Tyr1000=)
c.1551C>T (p.Tyr517=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165370204A=CA1304556604SCN2Ac.3754A= (p.Ile1252=)
c.*2073A= (n.*2073A=)
c.*1741A= (n.*1741A=)
c.*4277A= (n.*4277A=)
c.*1696A= (n.*1696A=)
c.3358A= (p.Ile1120=)
n.3897A=
c.3724A= (p.Ile1242=)
c.3001A= (p.Ile1001=)
c.1552A= (p.Ile518=)
2g.165370204A>CCA349027950SCN2Ac.3754A>C (p.Ile1252Leu)
c.*2073A>C (n.*2073A>C)
c.*1741A>C (n.*1741A>C)
c.*4277A>C (n.*4277A>C)
c.*1696A>C (n.*1696A>C)
c.3358A>C (p.Ile1120Leu)
n.3897A>C
c.3724A>C (p.Ile1242Leu)
c.3001A>C (p.Ile1001Leu)
c.1552A>C (p.Ile518Leu)
 ClinVar
2g.165370204A>GCA1940171SCN2Ac.3754A>G (p.Ile1252Val)
c.*2073A>G (n.*2073A>G)
c.*1741A>G (n.*1741A>G)
c.*4277A>G (n.*4277A>G)
c.*1696A>G (n.*1696A>G)
c.3358A>G (p.Ile1120Val)
n.3897A>G
c.3724A>G (p.Ile1242Val)
c.3001A>G (p.Ile1001Val)
c.1552A>G (p.Ile518Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.165370204A>TCA349027951SCN2Ac.3754A>T (p.Ile1252Leu)
c.*2073A>T (n.*2073A>T)
c.*1741A>T (n.*1741A>T)
c.*4277A>T (n.*4277A>T)
c.*1696A>T (n.*1696A>T)
c.3358A>T (p.Ile1120Leu)
n.3897A>T
c.3724A>T (p.Ile1242Leu)
c.3001A>T (p.Ile1001Leu)
c.1552A>T (p.Ile518Leu)
2g.165370205T>ACA349027956SCN2Ac.3755T>A (p.Ile1252Lys)
c.*2074T>A (n.*2074T>A)
c.*1742T>A (n.*1742T>A)
c.*4278T>A (n.*4278T>A)
c.*1697T>A (n.*1697T>A)
c.3359T>A (p.Ile1120Lys)
n.3898T>A
c.3725T>A (p.Ile1242Lys)
c.3002T>A (p.Ile1001Lys)
c.1553T>A (p.Ile518Lys)
2g.165370205T>CCA349027960SCN2Ac.3755T>C (p.Ile1252Thr)
c.*2074T>C (n.*2074T>C)
c.*1742T>C (n.*1742T>C)
c.*4278T>C (n.*4278T>C)
c.*1697T>C (n.*1697T>C)
c.3359T>C (p.Ile1120Thr)
n.3898T>C
c.3725T>C (p.Ile1242Thr)
c.3002T>C (p.Ile1001Thr)
c.1553T>C (p.Ile518Thr)
 COSMIC COSMIC
2g.165370205T>GCA349027961SCN2Ac.3755T>G (p.Ile1252Arg)
c.*2074T>G (n.*2074T>G)
c.*1742T>G (n.*1742T>G)
c.*4278T>G (n.*4278T>G)
c.*1697T>G (n.*1697T>G)
c.3359T>G (p.Ile1120Arg)
n.3898T>G
c.3725T>G (p.Ile1242Arg)
c.3002T>G (p.Ile1001Arg)
c.1553T>G (p.Ile518Arg)
2g.165370206A>CCA429886247SCN2Ac.3756A>C (p.Ile1252=)
c.*2075A>C (n.*2075A>C)
c.*1743A>C (n.*1743A>C)
c.*4279A>C (n.*4279A>C)
c.*1698A>C (n.*1698A>C)
c.3360A>C (p.Ile1120=)
n.3899A>C
c.3726A>C (p.Ile1242=)
c.3003A>C (p.Ile1001=)
c.1554A>C (p.Ile518=)
2g.165370206A>GCA349027963SCN2Ac.3756A>G (p.Ile1252Met)
c.*2075A>G (n.*2075A>G)
c.*1743A>G (n.*1743A>G)
c.*4279A>G (n.*4279A>G)
c.*1698A>G (n.*1698A>G)
c.3360A>G (p.Ile1120Met)
n.3899A>G
c.3726A>G (p.Ile1242Met)
c.3003A>G (p.Ile1001Met)
c.1554A>G (p.Ile518Met)
2g.165370206A>TCA429886248SCN2Ac.3756A>T (p.Ile1252=)
c.*2075A>T (n.*2075A>T)
c.*1743A>T (n.*1743A>T)
c.*4279A>T (n.*4279A>T)
c.*1698A>T (n.*1698A>T)
c.3360A>T (p.Ile1120=)
n.3899A>T
c.3726A>T (p.Ile1242=)
c.3003A>T (p.Ile1001=)
c.1554A>T (p.Ile518=)
2g.165370207T>ACA349027967SCN2Ac.3757T>A (p.Phe1253Ile)
c.*2076T>A (n.*2076T>A)
c.*1744T>A (n.*1744T>A)
c.*4280T>A (n.*4280T>A)
c.*1699T>A (n.*1699T>A)
c.3361T>A (p.Phe1121Ile)
n.3900T>A
c.3727T>A (p.Phe1243Ile)
c.3004T>A (p.Phe1002Ile)
c.1555T>A (p.Phe519Ile)
2g.165370207T>CCA349027964SCN2Ac.3757T>C (p.Phe1253Leu)
c.*2076T>C (n.*2076T>C)
c.*1744T>C (n.*1744T>C)
c.*4280T>C (n.*4280T>C)
c.*1699T>C (n.*1699T>C)
c.3361T>C (p.Phe1121Leu)
n.3900T>C
c.3727T>C (p.Phe1243Leu)
c.3004T>C (p.Phe1002Leu)
c.1555T>C (p.Phe519Leu)
2g.165370207T>GCA349027972SCN2Ac.3757T>G (p.Phe1253Val)
c.*2076T>G (n.*2076T>G)
c.*1744T>G (n.*1744T>G)
c.*4280T>G (n.*4280T>G)
c.*1699T>G (n.*1699T>G)
c.3361T>G (p.Phe1121Val)
n.3900T>G
c.3727T>G (p.Phe1243Val)
c.3004T>G (p.Phe1002Val)
c.1555T>G (p.Phe519Val)
2g.165370208T>ACA349027973SCN2Ac.3758T>A (p.Phe1253Tyr)
c.*2077T>A (n.*2077T>A)
c.*1745T>A (n.*1745T>A)
c.*4281T>A (n.*4281T>A)
c.*1700T>A (n.*1700T>A)
c.3362T>A (p.Phe1121Tyr)
n.3901T>A
c.3728T>A (p.Phe1243Tyr)
c.3005T>A (p.Phe1002Tyr)
c.1556T>A (p.Phe519Tyr)
2g.165370208T>CCA349027974SCN2Ac.3758T>C (p.Phe1253Ser)
c.*2077T>C (n.*2077T>C)
c.*1745T>C (n.*1745T>C)
c.*4281T>C (n.*4281T>C)
c.*1700T>C (n.*1700T>C)
c.3362T>C (p.Phe1121Ser)
n.3901T>C
c.3728T>C (p.Phe1243Ser)
c.3005T>C (p.Phe1002Ser)
c.1556T>C (p.Phe519Ser)
2g.165370208T>GCA349027975SCN2Ac.3758T>G (p.Phe1253Cys)
c.*2077T>G (n.*2077T>G)
c.*1745T>G (n.*1745T>G)
c.*4281T>G (n.*4281T>G)
c.*1700T>G (n.*1700T>G)
c.3362T>G (p.Phe1121Cys)
n.3901T>G
c.3728T>G (p.Phe1243Cys)
c.3005T>G (p.Phe1002Cys)
c.1556T>G (p.Phe519Cys)
2g.165370209C>ACA349027976SCN2Ac.3759C>A (p.Phe1253Leu)
c.*2078C>A (n.*2078C>A)
c.*1746C>A (n.*1746C>A)
c.*4282C>A (n.*4282C>A)
c.*1701C>A (n.*1701C>A)
c.3363C>A (p.Phe1121Leu)
n.3902C>A
c.3729C>A (p.Phe1243Leu)
c.3006C>A (p.Phe1002Leu)
c.1557C>A (p.Phe519Leu)
 gnomAD v4
2g.165370209C>GCA349027977SCN2Ac.3759C>G (p.Phe1253Leu)
c.*2078C>G (n.*2078C>G)
c.*1746C>G (n.*1746C>G)
c.*4282C>G (n.*4282C>G)
c.*1701C>G (n.*1701C>G)
c.3363C>G (p.Phe1121Leu)
n.3902C>G
c.3729C>G (p.Phe1243Leu)
c.3006C>G (p.Phe1002Leu)
c.1557C>G (p.Phe519Leu)
2g.165370209C>TCA429886250SCN2Ac.3759C>T (p.Phe1253=)
c.*2078C>T (n.*2078C>T)
c.*1746C>T (n.*1746C>T)
c.*4282C>T (n.*4282C>T)
c.*1701C>T (n.*1701C>T)
c.3363C>T (p.Phe1121=)
n.3902C>T
c.3729C>T (p.Phe1243=)
c.3006C>T (p.Phe1002=)
c.1557C>T (p.Phe519=)
2g.165370210A>CCA349027980SCN2Ac.3760A>C (p.Ile1254Leu)
c.*2079A>C (n.*2079A>C)
c.*1747A>C (n.*1747A>C)
c.*4283A>C (n.*4283A>C)
c.*1702A>C (n.*1702A>C)
c.3364A>C (p.Ile1122Leu)
n.3903A>C
c.3730A>C (p.Ile1244Leu)
c.3007A>C (p.Ile1003Leu)
c.1558A>C (p.Ile520Leu)
2g.165370210A>GCA349027983SCN2Ac.3760A>G (p.Ile1254Val)
c.*2079A>G (n.*2079A>G)
c.*1747A>G (n.*1747A>G)
c.*4283A>G (n.*4283A>G)
c.*1702A>G (n.*1702A>G)
c.3364A>G (p.Ile1122Val)
n.3903A>G
c.3730A>G (p.Ile1244Val)
c.3007A>G (p.Ile1003Val)
c.1558A>G (p.Ile520Val)
2g.165370210A>TCA349027985SCN2Ac.3760A>T (p.Ile1254Phe)
c.*2079A>T (n.*2079A>T)
c.*1747A>T (n.*1747A>T)
c.*4283A>T (n.*4283A>T)
c.*1702A>T (n.*1702A>T)
c.3364A>T (p.Ile1122Phe)
n.3903A>T
c.3730A>T (p.Ile1244Phe)
c.3007A>T (p.Ile1003Phe)
c.1558A>T (p.Ile520Phe)
 ClinVar
2g.165370211T>ACA349027986SCN2Ac.3761T>A (p.Ile1254Asn)
c.*2080T>A (n.*2080T>A)
c.*1748T>A (n.*1748T>A)
c.*4284T>A (n.*4284T>A)
c.*1703T>A (n.*1703T>A)
c.3365T>A (p.Ile1122Asn)
n.3904T>A
c.3731T>A (p.Ile1244Asn)
c.3008T>A (p.Ile1003Asn)
c.1559T>A (p.Ile520Asn)
2g.165370211T>CCA349027987SCN2Ac.3761T>C (p.Ile1254Thr)
c.*2080T>C (n.*2080T>C)
c.*1748T>C (n.*1748T>C)
c.*4284T>C (n.*4284T>C)
c.*1703T>C (n.*1703T>C)
c.3365T>C (p.Ile1122Thr)
n.3904T>C
c.3731T>C (p.Ile1244Thr)
c.3008T>C (p.Ile1003Thr)
c.1559T>C (p.Ile520Thr)
2g.165370211T>GCA349027988SCN2Ac.3761T>G (p.Ile1254Ser)
c.*2080T>G (n.*2080T>G)
c.*1748T>G (n.*1748T>G)
c.*4284T>G (n.*4284T>G)
c.*1703T>G (n.*1703T>G)
c.3365T>G (p.Ile1122Ser)
n.3904T>G
c.3731T>G (p.Ile1244Ser)
c.3008T>G (p.Ile1003Ser)
c.1559T>G (p.Ile520Ser)
2g.165370212T>ACA429886252SCN2Ac.3762T>A (p.Ile1254=)
c.*2081T>A (n.*2081T>A)
c.*1749T>A (n.*1749T>A)
c.*4285T>A (n.*4285T>A)
c.*1704T>A (n.*1704T>A)
c.3366T>A (p.Ile1122=)
n.3905T>A
c.3732T>A (p.Ile1244=)
c.3009T>A (p.Ile1003=)
c.1560T>A (p.Ile520=)
2g.165370212T>CCA429886253SCN2Ac.3762T>C (p.Ile1254=)
c.*2081T>C (n.*2081T>C)
c.*1749T>C (n.*1749T>C)
c.*4285T>C (n.*4285T>C)
c.*1704T>C (n.*1704T>C)
c.3366T>C (p.Ile1122=)
n.3905T>C
c.3732T>C (p.Ile1244=)
c.3009T>C (p.Ile1003=)
c.1560T>C (p.Ile520=)
 dbSNP
2g.165370212T>GCA349027989SCN2Ac.3762T>G (p.Ile1254Met)
c.*2081T>G (n.*2081T>G)
c.*1749T>G (n.*1749T>G)
c.*4285T>G (n.*4285T>G)
c.*1704T>G (n.*1704T>G)
c.3366T>G (p.Ile1122Met)
n.3905T>G
c.3732T>G (p.Ile1244Met)
c.3009T>G (p.Ile1003Met)
c.1560T>G (p.Ile520Met)
2g.165370213C>ACA349027990SCN2Ac.3763C>A (p.Leu1255Met)
c.*2082C>A (n.*2082C>A)
c.*1750C>A (n.*1750C>A)
c.*4286C>A (n.*4286C>A)
c.*1705C>A (n.*1705C>A)
c.3367C>A (p.Leu1123Met)
n.3906C>A
c.3733C>A (p.Leu1245Met)
c.3010C>A (p.Leu1004Met)
c.1561C>A (p.Leu521Met)
2g.165370213C=CA1304556605SCN2Ac.3763C= (p.Leu1255=)
c.*2082C= (n.*2082C=)
c.*1750C= (n.*1750C=)
c.*4286C= (n.*4286C=)
c.*1705C= (n.*1705C=)
c.3367C= (p.Leu1123=)
n.3906C=
c.3733C= (p.Leu1245=)
c.3010C= (p.Leu1004=)
c.1561C= (p.Leu521=)
2g.165370213C>GCA349027992SCN2Ac.3763C>G (p.Leu1255Val)
c.*2082C>G (n.*2082C>G)
c.*1750C>G (n.*1750C>G)
c.*4286C>G (n.*4286C>G)
c.*1705C>G (n.*1705C>G)
c.3367C>G (p.Leu1123Val)
n.3906C>G
c.3733C>G (p.Leu1245Val)
c.3010C>G (p.Leu1004Val)
c.1561C>G (p.Leu521Val)
2g.165370213C>TCA429886254SCN2Ac.3763C>T (p.Leu1255=)
c.*2082C>T (n.*2082C>T)
c.*1750C>T (n.*1750C>T)
c.*4286C>T (n.*4286C>T)
c.*1705C>T (n.*1705C>T)
c.3367C>T (p.Leu1123=)
n.3906C>T
c.3733C>T (p.Leu1245=)
c.3010C>T (p.Leu1004=)
c.1561C>T (p.Leu521=)
 dbSNP gnomAD v2
2g.165370214T>ACA349027994SCN2Ac.3764T>A (p.Leu1255Gln)
c.*2083T>A (n.*2083T>A)
c.*1751T>A (n.*1751T>A)
c.*4287T>A (n.*4287T>A)
c.*1706T>A (n.*1706T>A)
c.3368T>A (p.Leu1123Gln)
n.3907T>A
c.3734T>A (p.Leu1245Gln)
c.3011T>A (p.Leu1004Gln)
c.1562T>A (p.Leu521Gln)
2g.165370214T>CCA349027996SCN2Ac.3764T>C (p.Leu1255Pro)
c.*2083T>C (n.*2083T>C)
c.*1751T>C (n.*1751T>C)
c.*4287T>C (n.*4287T>C)
c.*1706T>C (n.*1706T>C)
c.3368T>C (p.Leu1123Pro)
n.3907T>C
c.3734T>C (p.Leu1245Pro)
c.3011T>C (p.Leu1004Pro)
c.1562T>C (p.Leu521Pro)
2g.165370214T>GCA349027997SCN2Ac.3764T>G (p.Leu1255Arg)
c.*2083T>G (n.*2083T>G)
c.*1751T>G (n.*1751T>G)
c.*4287T>G (n.*4287T>G)
c.*1706T>G (n.*1706T>G)
c.3368T>G (p.Leu1123Arg)
n.3907T>G
c.3734T>G (p.Leu1245Arg)
c.3011T>G (p.Leu1004Arg)
c.1562T>G (p.Leu521Arg)
2g.165370215G>ACA429886256SCN2Ac.3765G>A (p.Leu1255=)
c.*2084G>A (n.*2084G>A)
c.*1752G>A (n.*1752G>A)
c.*4288G>A (n.*4288G>A)
c.*1707G>A (n.*1707G>A)
c.3369G>A (p.Leu1123=)
n.3908G>A
c.3735G>A (p.Leu1245=)
c.3012G>A (p.Leu1004=)
c.1563G>A (p.Leu521=)
2g.165370215G>CCA429886259SCN2Ac.3765G>C (p.Leu1255=)
c.*2084G>C (n.*2084G>C)
c.*1752G>C (n.*1752G>C)
c.*4288G>C (n.*4288G>C)
c.*1707G>C (n.*1707G>C)
c.3369G>C (p.Leu1123=)
n.3908G>C
c.3735G>C (p.Leu1245=)
c.3012G>C (p.Leu1004=)
c.1563G>C (p.Leu521=)
2g.165370215G>TCA429886258SCN2Ac.3765G>T (p.Leu1255=)
c.*2084G>T (n.*2084G>T)
c.*1752G>T (n.*1752G>T)
c.*4288G>T (n.*4288G>T)
c.*1707G>T (n.*1707G>T)
c.3369G>T (p.Leu1123=)
n.3908G>T
c.3735G>T (p.Leu1245=)
c.3012G>T (p.Leu1004=)
c.1563G>T (p.Leu521=)
2g.165370216G>ACA349028010SCN2Ac.3766G>A (p.Glu1256Lys)
c.*2085G>A (n.*2085G>A)
c.*1753G>A (n.*1753G>A)
c.*4289G>A (n.*4289G>A)
c.*1708G>A (n.*1708G>A)
c.3370G>A (p.Glu1124Lys)
n.3909G>A
c.3736G>A (p.Glu1246Lys)
c.3013G>A (p.Glu1005Lys)
c.1564G>A (p.Glu522Lys)
2g.165370216G>CCA349028013SCN2Ac.3766G>C (p.Glu1256Gln)
c.*2085G>C (n.*2085G>C)
c.*1753G>C (n.*1753G>C)
c.*4289G>C (n.*4289G>C)
c.*1708G>C (n.*1708G>C)
c.3370G>C (p.Glu1124Gln)
n.3909G>C
c.3736G>C (p.Glu1246Gln)
c.3013G>C (p.Glu1005Gln)
c.1564G>C (p.Glu522Gln)
2g.165370216G=CA1304556606SCN2Ac.3766G= (p.Glu1256=)
c.*2085G= (n.*2085G=)
c.*1753G= (n.*1753G=)
c.*4289G= (n.*4289G=)
c.*1708G= (n.*1708G=)
c.3370G= (p.Glu1124=)
n.3909G=
c.3736G= (p.Glu1246=)
c.3013G= (p.Glu1005=)
c.1564G= (p.Glu522=)
2g.165370216G>TCA349028023SCN2Ac.3766G>T (p.Glu1256Ter)
c.*2085G>T (n.*2085G>T)
c.*1753G>T (n.*1753G>T)
c.*4289G>T (n.*4289G>T)
c.*1708G>T (n.*1708G>T)
c.3370G>T (p.Glu1124Ter)
n.3909G>T
c.3736G>T (p.Glu1246Ter)
c.3013G>T (p.Glu1005Ter)
c.1564G>T (p.Glu522Ter)
 dbSNP
2g.165370217A>CCA349028027SCN2Ac.3767A>C (p.Glu1256Ala)
c.*2086A>C (n.*2086A>C)
c.*1754A>C (n.*1754A>C)
c.*4290A>C (n.*4290A>C)
c.*1709A>C (n.*1709A>C)
c.3371A>C (p.Glu1124Ala)
n.3910A>C
c.3737A>C (p.Glu1246Ala)
c.3014A>C (p.Glu1005Ala)
c.1565A>C (p.Glu522Ala)
2g.165370217A>GCA349028032SCN2Ac.3767A>G (p.Glu1256Gly)
c.*2086A>G (n.*2086A>G)
c.*1754A>G (n.*1754A>G)
c.*4290A>G (n.*4290A>G)
c.*1709A>G (n.*1709A>G)
c.3371A>G (p.Glu1124Gly)
n.3910A>G
c.3737A>G (p.Glu1246Gly)
c.3014A>G (p.Glu1005Gly)
c.1565A>G (p.Glu522Gly)
 ClinVar
2g.165370217A>TCA349028035SCN2Ac.3767A>T (p.Glu1256Val)
c.*2086A>T (n.*2086A>T)
c.*1754A>T (n.*1754A>T)
c.*4290A>T (n.*4290A>T)
c.*1709A>T (n.*1709A>T)
c.3371A>T (p.Glu1124Val)
n.3910A>T
c.3737A>T (p.Glu1246Val)
c.3014A>T (p.Glu1005Val)
c.1565A>T (p.Glu522Val)
2g.165370219dupCA59734261SCN2Ac.3769dup (p.Met1257AsnfsTer27)
c.*2088dup (n.*2088dup)
c.*1756dup (n.*1756dup)
c.*4292dup (n.*4292dup)
c.*1711dup (n.*1711dup)
c.3373dup (p.Met1125AsnfsTer27)
n.3912dup
c.3739dup (p.Met1247AsnfsTer27)
c.3016dup (p.Met1006AsnfsTer27)
c.1567dup (p.Met523AsnfsTer27)
 dbSNP
2g.165370218A=CA1304556607SCN2Ac.3768A= (p.Glu1256=)
c.*2087A= (n.*2087A=)
c.*1755A= (n.*1755A=)
c.*4291A= (n.*4291A=)
c.*1710A= (n.*1710A=)
c.3372A= (p.Glu1124=)
n.3911A=
c.3738A= (p.Glu1246=)
c.3015A= (p.Glu1005=)
c.1566A= (p.Glu522=)
2g.165370218A>CCA349028036SCN2Ac.3768A>C (p.Glu1256Asp)
c.*2087A>C (n.*2087A>C)
c.*1755A>C (n.*1755A>C)
c.*4291A>C (n.*4291A>C)
c.*1710A>C (n.*1710A>C)
c.3372A>C (p.Glu1124Asp)
n.3911A>C
c.3738A>C (p.Glu1246Asp)
c.3015A>C (p.Glu1005Asp)
c.1566A>C (p.Glu522Asp)
2g.165370218A>GCA429886263SCN2Ac.3768A>G (p.Glu1256=)
c.*2087A>G (n.*2087A>G)
c.*1755A>G (n.*1755A>G)
c.*4291A>G (n.*4291A>G)
c.*1710A>G (n.*1710A>G)
c.3372A>G (p.Glu1124=)
n.3911A>G
c.3738A>G (p.Glu1246=)
c.3015A>G (p.Glu1005=)
c.1566A>G (p.Glu522=)
2g.165370218A>TCA349028038SCN2Ac.3768A>T (p.Glu1256Asp)
c.*2087A>T (n.*2087A>T)
c.*1755A>T (n.*1755A>T)
c.*4291A>T (n.*4291A>T)
c.*1710A>T (n.*1710A>T)
c.3372A>T (p.Glu1124Asp)
n.3911A>T
c.3738A>T (p.Glu1246Asp)
c.3015A>T (p.Glu1005Asp)
c.1566A>T (p.Glu522Asp)
 dbSNP gnomAD v4
2g.165370219A>CCA349028047SCN2Ac.3769A>C (p.Met1257Leu)
c.*2088A>C (n.*2088A>C)
c.*1756A>C (n.*1756A>C)
c.*4292A>C (n.*4292A>C)
c.*1711A>C (n.*1711A>C)
c.3373A>C (p.Met1125Leu)
n.3912A>C
c.3739A>C (p.Met1247Leu)
c.3016A>C (p.Met1006Leu)
c.1567A>C (p.Met523Leu)
2g.165370219A>GCA349028049SCN2Ac.3769A>G (p.Met1257Val)
c.*2088A>G (n.*2088A>G)
c.*1756A>G (n.*1756A>G)
c.*4292A>G (n.*4292A>G)
c.*1711A>G (n.*1711A>G)
c.3373A>G (p.Met1125Val)
n.3912A>G
c.3739A>G (p.Met1247Val)
c.3016A>G (p.Met1006Val)
c.1567A>G (p.Met523Val)
2g.165370219A>TCA349028040SCN2Ac.3769A>T (p.Met1257Leu)
c.*2088A>T (n.*2088A>T)
c.*1756A>T (n.*1756A>T)
c.*4292A>T (n.*4292A>T)
c.*1711A>T (n.*1711A>T)
c.3373A>T (p.Met1125Leu)
n.3912A>T
c.3739A>T (p.Met1247Leu)
c.3016A>T (p.Met1006Leu)
c.1567A>T (p.Met523Leu)
2g.165370220T>ACA349028052SCN2Ac.3770T>A (p.Met1257Lys)
c.*2089T>A (n.*2089T>A)
c.*1757T>A (n.*1757T>A)
c.*4293T>A (n.*4293T>A)
c.*1712T>A (n.*1712T>A)
c.3374T>A (p.Met1125Lys)
n.3913T>A
c.3740T>A (p.Met1247Lys)
c.3017T>A (p.Met1006Lys)
c.1568T>A (p.Met523Lys)
2g.165370220T>CCA349028054SCN2Ac.3770T>C (p.Met1257Thr)
c.*2089T>C (n.*2089T>C)
c.*1757T>C (n.*1757T>C)
c.*4293T>C (n.*4293T>C)
c.*1712T>C (n.*1712T>C)
c.3374T>C (p.Met1125Thr)
n.3913T>C
c.3740T>C (p.Met1247Thr)
c.3017T>C (p.Met1006Thr)
c.1568T>C (p.Met523Thr)
2g.165370220T>GCA349028058SCN2Ac.3770T>G (p.Met1257Arg)
c.*2089T>G (n.*2089T>G)
c.*1757T>G (n.*1757T>G)
c.*4293T>G (n.*4293T>G)
c.*1712T>G (n.*1712T>G)
c.3374T>G (p.Met1125Arg)
n.3913T>G
c.3740T>G (p.Met1247Arg)
c.3017T>G (p.Met1006Arg)
c.1568T>G (p.Met523Arg)
2g.165370221G>ACA349028061SCN2Ac.3771G>A (p.Met1257Ile)
c.*2090G>A (n.*2090G>A)
c.*1758G>A (n.*1758G>A)
c.*4294G>A (n.*4294G>A)
c.*1713G>A (n.*1713G>A)
c.3375G>A (p.Met1125Ile)
n.3914G>A
c.3741G>A (p.Met1247Ile)
c.3018G>A (p.Met1006Ile)
c.1569G>A (p.Met523Ile)
2g.165370221G>CCA349028064SCN2Ac.3771G>C (p.Met1257Ile)
c.*2090G>C (n.*2090G>C)
c.*1758G>C (n.*1758G>C)
c.*4294G>C (n.*4294G>C)
c.*1713G>C (n.*1713G>C)
c.3375G>C (p.Met1125Ile)
n.3914G>C
c.3741G>C (p.Met1247Ile)
c.3018G>C (p.Met1006Ile)
c.1569G>C (p.Met523Ile)
2g.165370221G>TCA349028065SCN2Ac.3771G>T (p.Met1257Ile)
c.*2090G>T (n.*2090G>T)
c.*1758G>T (n.*1758G>T)
c.*4294G>T (n.*4294G>T)
c.*1713G>T (n.*1713G>T)
c.3375G>T (p.Met1125Ile)
n.3914G>T
c.3741G>T (p.Met1247Ile)
c.3018G>T (p.Met1006Ile)
c.1569G>T (p.Met523Ile)
2g.165370222C>ACA349028067SCN2Ac.3772C>A (p.Leu1258Met)
c.*2091C>A (n.*2091C>A)
c.*1759C>A (n.*1759C>A)
c.*4295C>A (n.*4295C>A)
c.*1714C>A (n.*1714C>A)
c.3376C>A (p.Leu1126Met)
n.3915C>A
c.3742C>A (p.Leu1248Met)
c.3019C>A (p.Leu1007Met)
c.1570C>A (p.Leu524Met)
 gnomAD v4
2g.165370222C>GCA349028069SCN2Ac.3772C>G (p.Leu1258Val)
c.*2091C>G (n.*2091C>G)
c.*1759C>G (n.*1759C>G)
c.*4295C>G (n.*4295C>G)
c.*1714C>G (n.*1714C>G)
c.3376C>G (p.Leu1126Val)
n.3915C>G
c.3742C>G (p.Leu1248Val)
c.3019C>G (p.Leu1007Val)
c.1570C>G (p.Leu524Val)
2g.165370222C>TCA429886267SCN2Ac.3772C>T (p.Leu1258=)
c.*2091C>T (n.*2091C>T)
c.*1759C>T (n.*1759C>T)
c.*4295C>T (n.*4295C>T)
c.*1714C>T (n.*1714C>T)
c.3376C>T (p.Leu1126=)
n.3915C>T
c.3742C>T (p.Leu1248=)
c.3019C>T (p.Leu1007=)
c.1570C>T (p.Leu524=)
2g.165370223T>ACA349028073SCN2Ac.3773T>A (p.Leu1258Gln)
c.*2092T>A (n.*2092T>A)
c.*1760T>A (n.*1760T>A)
c.*4296T>A (n.*4296T>A)
c.*1715T>A (n.*1715T>A)
c.3377T>A (p.Leu1126Gln)
n.3916T>A
c.3743T>A (p.Leu1248Gln)
c.3020T>A (p.Leu1007Gln)
c.1571T>A (p.Leu524Gln)
2g.165370223T>CCA349028076SCN2Ac.3773T>C (p.Leu1258Pro)
c.*2092T>C (n.*2092T>C)
c.*1760T>C (n.*1760T>C)
c.*4296T>C (n.*4296T>C)
c.*1715T>C (n.*1715T>C)
c.3377T>C (p.Leu1126Pro)
n.3916T>C
c.3743T>C (p.Leu1248Pro)
c.3020T>C (p.Leu1007Pro)
c.1571T>C (p.Leu524Pro)
2g.165370223T>GCA349028077SCN2Ac.3773T>G (p.Leu1258Arg)
c.*2092T>G (n.*2092T>G)
c.*1760T>G (n.*1760T>G)
c.*4296T>G (n.*4296T>G)
c.*1715T>G (n.*1715T>G)
c.3377T>G (p.Leu1126Arg)
n.3916T>G
c.3743T>G (p.Leu1248Arg)
c.3020T>G (p.Leu1007Arg)
c.1571T>G (p.Leu524Arg)
2g.165370224G>ACA429886270SCN2Ac.3774G>A (p.Leu1258=)
c.*2093G>A (n.*2093G>A)
c.*1761G>A (n.*1761G>A)
c.*4297G>A (n.*4297G>A)
c.*1716G>A (n.*1716G>A)
c.3378G>A (p.Leu1126=)
n.3917G>A
c.3744G>A (p.Leu1248=)
c.3021G>A (p.Leu1007=)
c.1572G>A (p.Leu524=)
 COSMIC COSMIC
2g.165370224G>CCA429886271SCN2Ac.3774G>C (p.Leu1258=)
c.*2093G>C (n.*2093G>C)
c.*1761G>C (n.*1761G>C)
c.*4297G>C (n.*4297G>C)
c.*1716G>C (n.*1716G>C)
c.3378G>C (p.Leu1126=)
n.3917G>C
c.3744G>C (p.Leu1248=)
c.3021G>C (p.Leu1007=)
c.1572G>C (p.Leu524=)
2g.165370224G>TCA429886272SCN2Ac.3774G>T (p.Leu1258=)
c.*2093G>T (n.*2093G>T)
c.*1761G>T (n.*1761G>T)
c.*4297G>T (n.*4297G>T)
c.*1716G>T (n.*1716G>T)
c.3378G>T (p.Leu1126=)
n.3917G>T
c.3744G>T (p.Leu1248=)
c.3021G>T (p.Leu1007=)
c.1572G>T (p.Leu524=)
2g.165370225C>ACA349028079SCN2Ac.3775C>A (p.Leu1259Ile)
c.*2094C>A (n.*2094C>A)
c.*1762C>A (n.*1762C>A)
c.*4298C>A (n.*4298C>A)
c.*1717C>A (n.*1717C>A)
c.3379C>A (p.Leu1127Ile)
n.3918C>A
c.3745C>A (p.Leu1249Ile)
c.3022C>A (p.Leu1008Ile)
c.1573C>A (p.Leu525Ile)
2g.165370225C=CA1304556608SCN2Ac.3775C= (p.Leu1259=)
c.*2094C= (n.*2094C=)
c.*1762C= (n.*1762C=)
c.*4298C= (n.*4298C=)
c.*1717C= (n.*1717C=)
c.3379C= (p.Leu1127=)
n.3918C=
c.3745C= (p.Leu1249=)
c.3022C= (p.Leu1008=)
c.1573C= (p.Leu525=)
2g.165370225C>GCA349028081SCN2Ac.3775C>G (p.Leu1259Val)
c.*2094C>G (n.*2094C>G)
c.*1762C>G (n.*1762C>G)
c.*4298C>G (n.*4298C>G)
c.*1717C>G (n.*1717C>G)
c.3379C>G (p.Leu1127Val)
n.3918C>G
c.3745C>G (p.Leu1249Val)
c.3022C>G (p.Leu1008Val)
c.1573C>G (p.Leu525Val)
2g.165370225C>TCA429886273SCN2Ac.3775C>T (p.Leu1259=)
c.*2094C>T (n.*2094C>T)
c.*1762C>T (n.*1762C>T)
c.*4298C>T (n.*4298C>T)
c.*1717C>T (n.*1717C>T)
c.3379C>T (p.Leu1127=)
n.3918C>T
c.3745C>T (p.Leu1249=)
c.3022C>T (p.Leu1008=)
c.1573C>T (p.Leu525=)
 dbSNP gnomAD v4
2g.165370226T>ACA349028083SCN2Ac.3776T>A (p.Leu1259Gln)
c.*2095T>A (n.*2095T>A)
c.*1763T>A (n.*1763T>A)
c.*4299T>A (n.*4299T>A)
c.*1718T>A (n.*1718T>A)
c.3380T>A (p.Leu1127Gln)
n.3919T>A
c.3746T>A (p.Leu1249Gln)
c.3023T>A (p.Leu1008Gln)
c.1574T>A (p.Leu525Gln)
2g.165370226T>CCA349028086SCN2Ac.3776T>C (p.Leu1259Pro)
c.*2095T>C (n.*2095T>C)
c.*1763T>C (n.*1763T>C)
c.*4299T>C (n.*4299T>C)
c.*1718T>C (n.*1718T>C)
c.3380T>C (p.Leu1127Pro)
n.3919T>C
c.3746T>C (p.Leu1249Pro)
c.3023T>C (p.Leu1008Pro)
c.1574T>C (p.Leu525Pro)
2g.165370226T>GCA349028084SCN2Ac.3776T>G (p.Leu1259Arg)
c.*2095T>G (n.*2095T>G)
c.*1763T>G (n.*1763T>G)
c.*4299T>G (n.*4299T>G)
c.*1718T>G (n.*1718T>G)
c.3380T>G (p.Leu1127Arg)
n.3919T>G
c.3746T>G (p.Leu1249Arg)
c.3023T>G (p.Leu1008Arg)
c.1574T>G (p.Leu525Arg)
2g.165370227A>CCA429886275SCN2Ac.3777A>C (p.Leu1259=)
c.*2096A>C (n.*2096A>C)
c.*1764A>C (n.*1764A>C)
c.*4300A>C (n.*4300A>C)
c.*1719A>C (n.*1719A>C)
c.3381A>C (p.Leu1127=)
n.3920A>C
c.3747A>C (p.Leu1249=)
c.3024A>C (p.Leu1008=)
c.1575A>C (p.Leu525=)
2g.165370227A>GCA429886276SCN2Ac.3777A>G (p.Leu1259=)
c.*2096A>G (n.*2096A>G)
c.*1764A>G (n.*1764A>G)
c.*4300A>G (n.*4300A>G)
c.*1719A>G (n.*1719A>G)
c.3381A>G (p.Leu1127=)
n.3920A>G
c.3747A>G (p.Leu1249=)
c.3024A>G (p.Leu1008=)
c.1575A>G (p.Leu525=)
2g.165370227A>TCA429886277SCN2Ac.3777A>T (p.Leu1259=)
c.*2096A>T (n.*2096A>T)
c.*1764A>T (n.*1764A>T)
c.*4300A>T (n.*4300A>T)
c.*1719A>T (n.*1719A>T)
c.3381A>T (p.Leu1127=)
n.3920A>T
c.3747A>T (p.Leu1249=)
c.3024A>T (p.Leu1008=)
c.1575A>T (p.Leu525=)
2g.165370228A=CA1304556609SCN2Ac.3778A= (p.Lys1260=)
c.*2097A= (n.*2097A=)
c.*1765A= (n.*1765A=)
c.*4301A= (n.*4301A=)
c.*1720A= (n.*1720A=)
c.3382A= (p.Lys1128=)
n.3921A=
c.3748A= (p.Lys1250=)
c.3025A= (p.Lys1009=)
c.1576A= (p.Lys526=)
2g.165370228A>CCA349028088SCN2Ac.3778A>C (p.Lys1260Gln)
c.*2097A>C (n.*2097A>C)
c.*1765A>C (n.*1765A>C)
c.*4301A>C (n.*4301A>C)
c.*1720A>C (n.*1720A>C)
c.3382A>C (p.Lys1128Gln)
n.3921A>C
c.3748A>C (p.Lys1250Gln)
c.3025A>C (p.Lys1009Gln)
c.1576A>C (p.Lys526Gln)
 ClinVar dbSNP
2g.165370228A>GCA349028090SCN2Ac.3778A>G (p.Lys1260Glu)
c.*2097A>G (n.*2097A>G)
c.*1765A>G (n.*1765A>G)
c.*4301A>G (n.*4301A>G)
c.*1720A>G (n.*1720A>G)
c.3382A>G (p.Lys1128Glu)
n.3921A>G
c.3748A>G (p.Lys1250Glu)
c.3025A>G (p.Lys1009Glu)
c.1576A>G (p.Lys526Glu)
 ClinVar dbSNP
2g.165370228A>TCA349028092SCN2Ac.3778A>T (p.Lys1260Ter)
c.*2097A>T (n.*2097A>T)
c.*1765A>T (n.*1765A>T)
c.*4301A>T (n.*4301A>T)
c.*1720A>T (n.*1720A>T)
c.3382A>T (p.Lys1128Ter)
n.3921A>T
c.3748A>T (p.Lys1250Ter)
c.3025A>T (p.Lys1009Ter)
c.1576A>T (p.Lys526Ter)
 dbSNP
2g.165370229A>CCA349028095SCN2Ac.3779A>C (p.Lys1260Thr)
c.*2098A>C (n.*2098A>C)
c.*1766A>C (n.*1766A>C)
c.*4302A>C (n.*4302A>C)
c.*1721A>C (n.*1721A>C)
c.3383A>C (p.Lys1128Thr)
n.3922A>C
c.3749A>C (p.Lys1250Thr)
c.3026A>C (p.Lys1009Thr)
c.1577A>C (p.Lys526Thr)
2g.165370229A>GCA349028099SCN2Ac.3779A>G (p.Lys1260Arg)
c.*2098A>G (n.*2098A>G)
c.*1766A>G (n.*1766A>G)
c.*4302A>G (n.*4302A>G)
c.*1721A>G (n.*1721A>G)
c.3383A>G (p.Lys1128Arg)
n.3922A>G
c.3749A>G (p.Lys1250Arg)
c.3026A>G (p.Lys1009Arg)
c.1577A>G (p.Lys526Arg)
2g.165370229A>TCA349028100SCN2Ac.3779A>T (p.Lys1260Met)
c.*2098A>T (n.*2098A>T)
c.*1766A>T (n.*1766A>T)
c.*4302A>T (n.*4302A>T)
c.*1721A>T (n.*1721A>T)
c.3383A>T (p.Lys1128Met)
n.3922A>T
c.3749A>T (p.Lys1250Met)
c.3026A>T (p.Lys1009Met)
c.1577A>T (p.Lys526Met)
2g.165370230G>ACA1940172SCN2Ac.3780G>A (p.Lys1260=)
c.*2099G>A (n.*2099G>A)
c.*1767G>A (n.*1767G>A)
c.*4303G>A (n.*4303G>A)
c.*1722G>A (n.*1722G>A)
c.3384G>A (p.Lys1128=)
n.3923G>A
c.3750G>A (p.Lys1250=)
c.3027G>A (p.Lys1009=)
c.1578G>A (p.Lys526=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.165370230G>CCA349028102SCN2Ac.3780G>C (p.Lys1260Asn)
c.*2099G>C (n.*2099G>C)
c.*1767G>C (n.*1767G>C)
c.*4303G>C (n.*4303G>C)
c.*1722G>C (n.*1722G>C)
c.3384G>C (p.Lys1128Asn)
n.3923G>C
c.3750G>C (p.Lys1250Asn)
c.3027G>C (p.Lys1009Asn)
c.1578G>C (p.Lys526Asn)
 ClinVar dbSNP
2g.165370230G=CA1304556610SCN2Ac.3780G= (p.Lys1260=)
c.*2099G= (n.*2099G=)
c.*1767G= (n.*1767G=)
c.*4303G= (n.*4303G=)
c.*1722G= (n.*1722G=)
c.3384G= (p.Lys1128=)
n.3923G=
c.3750G= (p.Lys1250=)
c.3027G= (p.Lys1009=)
c.1578G= (p.Lys526=)
2g.165370230G>TCA349028108SCN2Ac.3780G>T (p.Lys1260Asn)
c.*2099G>T (n.*2099G>T)
c.*1767G>T (n.*1767G>T)
c.*4303G>T (n.*4303G>T)
c.*1722G>T (n.*1722G>T)
c.3384G>T (p.Lys1128Asn)
n.3923G>T
c.3750G>T (p.Lys1250Asn)
c.3027G>T (p.Lys1009Asn)
c.1578G>T (p.Lys526Asn)
 ClinVar
2g.165370231T>ACA349028111SCN2Ac.3781T>A (p.Trp1261Arg)
c.*2100T>A (n.*2100T>A)
c.*1768T>A (n.*1768T>A)
c.*4304T>A (n.*4304T>A)
c.*1723T>A (n.*1723T>A)
c.3385T>A (p.Trp1129Arg)
n.3924T>A
c.3751T>A (p.Trp1251Arg)
c.3028T>A (p.Trp1010Arg)
c.1579T>A (p.Trp527Arg)
2g.165370231T>CCA349028112SCN2Ac.3781T>C (p.Trp1261Arg)
c.*2100T>C (n.*2100T>C)
c.*1768T>C (n.*1768T>C)
c.*4304T>C (n.*4304T>C)
c.*1723T>C (n.*1723T>C)
c.3385T>C (p.Trp1129Arg)
n.3924T>C
c.3751T>C (p.Trp1251Arg)
c.3028T>C (p.Trp1010Arg)
c.1579T>C (p.Trp527Arg)
2g.165370231T>GCA349028113SCN2Ac.3781T>G (p.Trp1261Gly)
c.*2100T>G (n.*2100T>G)
c.*1768T>G (n.*1768T>G)
c.*4304T>G (n.*4304T>G)
c.*1723T>G (n.*1723T>G)
c.3385T>G (p.Trp1129Gly)
n.3924T>G
c.3751T>G (p.Trp1251Gly)
c.3028T>G (p.Trp1010Gly)
c.1579T>G (p.Trp527Gly)
2g.165370232G>ACA349028129SCN2Ac.3782G>A (p.Trp1261Ter)
c.*2101G>A (n.*2101G>A)
c.*1769G>A (n.*1769G>A)
c.*4305G>A (n.*4305G>A)
c.*1724G>A (n.*1724G>A)
c.3386G>A (p.Trp1129Ter)
n.3925G>A
c.3752G>A (p.Trp1251Ter)
c.3029G>A (p.Trp1010Ter)
c.1580G>A (p.Trp527Ter)
 ClinVar dbSNP
2g.165370232G>CCA349028132SCN2Ac.3782G>C (p.Trp1261Ser)
c.*2101G>C (n.*2101G>C)
c.*1769G>C (n.*1769G>C)
c.*4305G>C (n.*4305G>C)
c.*1724G>C (n.*1724G>C)
c.3386G>C (p.Trp1129Ser)
n.3925G>C
c.3752G>C (p.Trp1251Ser)
c.3029G>C (p.Trp1010Ser)
c.1580G>C (p.Trp527Ser)
2g.165370232G=CA1304556611SCN2Ac.3782G= (p.Trp1261=)
c.*2101G= (n.*2101G=)
c.*1769G= (n.*1769G=)
c.*4305G= (n.*4305G=)
c.*1724G= (n.*1724G=)
c.3386G= (p.Trp1129=)
n.3925G=
c.3752G= (p.Trp1251=)
c.3029G= (p.Trp1010=)
c.1580G= (p.Trp527=)
2g.165370232G>TCA349028122SCN2Ac.3782G>T (p.Trp1261Leu)
c.*2101G>T (n.*2101G>T)
c.*1769G>T (n.*1769G>T)
c.*4305G>T (n.*4305G>T)
c.*1724G>T (n.*1724G>T)
c.3386G>T (p.Trp1129Leu)
n.3925G>T
c.3752G>T (p.Trp1251Leu)
c.3029G>T (p.Trp1010Leu)
c.1580G>T (p.Trp527Leu)
2g.165370233G>ACA349028138SCN2Ac.3783G>A (p.Trp1261Ter)
c.*2102G>A (n.*2102G>A)
c.*1770G>A (n.*1770G>A)
c.*4306G>A (n.*4306G>A)
c.*1725G>A (n.*1725G>A)
c.3387G>A (p.Trp1129Ter)
n.3926G>A
c.3753G>A (p.Trp1251Ter)
c.3030G>A (p.Trp1010Ter)
c.1581G>A (p.Trp527Ter)
 dbSNP
2g.165370233G>CCA349028134SCN2Ac.3783G>C (p.Trp1261Cys)
c.*2102G>C (n.*2102G>C)
c.*1770G>C (n.*1770G>C)
c.*4306G>C (n.*4306G>C)
c.*1725G>C (n.*1725G>C)
c.3387G>C (p.Trp1129Cys)
n.3926G>C
c.3753G>C (p.Trp1251Cys)
c.3030G>C (p.Trp1010Cys)
c.1581G>C (p.Trp527Cys)
2g.165370233G=CA1304556612SCN2Ac.3783G= (p.Trp1261=)
c.*2102G= (n.*2102G=)
c.*1770G= (n.*1770G=)
c.*4306G= (n.*4306G=)
c.*1725G= (n.*1725G=)
c.3387G= (p.Trp1129=)
n.3926G=
c.3753G= (p.Trp1251=)
c.3030G= (p.Trp1010=)
c.1581G= (p.Trp527=)
2g.165370233G>TCA349028137SCN2Ac.3783G>T (p.Trp1261Cys)
c.*2102G>T (n.*2102G>T)
c.*1770G>T (n.*1770G>T)
c.*4306G>T (n.*4306G>T)
c.*1725G>T (n.*1725G>T)
c.3387G>T (p.Trp1129Cys)
n.3926G>T
c.3753G>T (p.Trp1251Cys)
c.3030G>T (p.Trp1010Cys)
c.1581G>T (p.Trp527Cys)
2g.165370234G>ACA349028139SCN2Ac.3784G>A (p.Val1262Ile)
c.*2103G>A (n.*2103G>A)
c.*1771G>A (n.*1771G>A)
c.*4307G>A (n.*4307G>A)
c.*1726G>A (n.*1726G>A)
c.3388G>A (p.Val1130Ile)
n.3927G>A
c.3754G>A (p.Val1252Ile)
c.3031G>A (p.Val1011Ile)
c.1582G>A (p.Val528Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.165370234G>CCA349028140SCN2Ac.3784G>C (p.Val1262Leu)
c.*2103G>C (n.*2103G>C)
c.*1771G>C (n.*1771G>C)
c.*4307G>C (n.*4307G>C)
c.*1726G>C (n.*1726G>C)
c.3388G>C (p.Val1130Leu)
n.3927G>C
c.3754G>C (p.Val1252Leu)
c.3031G>C (p.Val1011Leu)
c.1582G>C (p.Val528Leu)
2g.165370234G=CA1304556613SCN2Ac.3784G= (p.Val1262=)
c.*2103G= (n.*2103G=)
c.*1771G= (n.*1771G=)
c.*4307G= (n.*4307G=)
c.*1726G= (n.*1726G=)
c.3388G= (p.Val1130=)
n.3927G=
c.3754G= (p.Val1252=)
c.3031G= (p.Val1011=)
c.1582G= (p.Val528=)
2g.165370234G>TCA349028141SCN2Ac.3784G>T (p.Val1262Phe)
c.*2103G>T (n.*2103G>T)
c.*1771G>T (n.*1771G>T)
c.*4307G>T (n.*4307G>T)
c.*1726G>T (n.*1726G>T)
c.3388G>T (p.Val1130Phe)
n.3927G>T
c.3754G>T (p.Val1252Phe)
c.3031G>T (p.Val1011Phe)
c.1582G>T (p.Val528Phe)
2g.165370235T>ACA349028142SCN2Ac.3785T>A (p.Val1262Asp)
c.*2104T>A (n.*2104T>A)
c.*1772T>A (n.*1772T>A)
c.*4308T>A (n.*4308T>A)
c.*1727T>A (n.*1727T>A)
c.3389T>A (p.Val1130Asp)
n.3928T>A
c.3755T>A (p.Val1252Asp)
c.3032T>A (p.Val1011Asp)
c.1583T>A (p.Val528Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.165370235T>CCA349028143SCN2Ac.3785T>C (p.Val1262Ala)
c.*2104T>C (n.*2104T>C)
c.*1772T>C (n.*1772T>C)
c.*4308T>C (n.*4308T>C)
c.*1727T>C (n.*1727T>C)
c.3389T>C (p.Val1130Ala)
n.3928T>C
c.3755T>C (p.Val1252Ala)
c.3032T>C (p.Val1011Ala)
c.1583T>C (p.Val528Ala)
2g.165370235T>GCA349028145SCN2Ac.3785T>G (p.Val1262Gly)
c.*2104T>G (n.*2104T>G)
c.*1772T>G (n.*1772T>G)
c.*4308T>G (n.*4308T>G)
c.*1727T>G (n.*1727T>G)
c.3389T>G (p.Val1130Gly)
n.3928T>G
c.3755T>G (p.Val1252Gly)
c.3032T>G (p.Val1011Gly)
c.1583T>G (p.Val528Gly)
2g.165370235T=CA1304556614SCN2Ac.3785T= (p.Val1262=)
c.*2104T= (n.*2104T=)
c.*1772T= (n.*1772T=)
c.*4308T= (n.*4308T=)
c.*1727T= (n.*1727T=)
c.3389T= (p.Val1130=)
n.3928T=
c.3755T= (p.Val1252=)
c.3032T= (p.Val1011=)
c.1583T= (p.Val528=)
2g.165370236T>ACA429886282SCN2Ac.3786T>A (p.Val1262=)
c.*2105T>A (n.*2105T>A)
c.*1773T>A (n.*1773T>A)
c.*4309T>A (n.*4309T>A)
c.*1728T>A (n.*1728T>A)
c.3390T>A (p.Val1130=)
n.3929T>A
c.3756T>A (p.Val1252=)
c.3033T>A (p.Val1011=)
c.1584T>A (p.Val528=)
2g.165370236T>CCA429886283SCN2Ac.3786T>C (p.Val1262=)
c.*2105T>C (n.*2105T>C)
c.*1773T>C (n.*1773T>C)
c.*4309T>C (n.*4309T>C)
c.*1728T>C (n.*1728T>C)
c.3390T>C (p.Val1130=)
n.3929T>C
c.3756T>C (p.Val1252=)
c.3033T>C (p.Val1011=)
c.1584T>C (p.Val528=)
2g.165370236T>GCA429886284SCN2Ac.3786T>G (p.Val1262=)
c.*2105T>G (n.*2105T>G)
c.*1773T>G (n.*1773T>G)
c.*4309T>G (n.*4309T>G)
c.*1728T>G (n.*1728T>G)
c.3390T>G (p.Val1130=)
n.3929T>G
c.3756T>G (p.Val1252=)
c.3033T>G (p.Val1011=)
c.1584T>G (p.Val528=)
2g.165370237G>ACA349028147SCN2Ac.3787G>A (p.Ala1263Thr)
c.*2106G>A (n.*2106G>A)
c.*1774G>A (n.*1774G>A)
c.*4310G>A (n.*4310G>A)
c.*1729G>A (n.*1729G>A)
c.3391G>A (p.Ala1131Thr)
n.3930G>A
c.3757G>A (p.Ala1253Thr)
c.3034G>A (p.Ala1012Thr)
c.1585G>A (p.Ala529Thr)
2g.165370237G>CCA349028151SCN2Ac.3787G>C (p.Ala1263Pro)
c.*2106G>C (n.*2106G>C)
c.*1774G>C (n.*1774G>C)
c.*4310G>C (n.*4310G>C)
c.*1729G>C (n.*1729G>C)
c.3391G>C (p.Ala1131Pro)
n.3930G>C
c.3757G>C (p.Ala1253Pro)
c.3034G>C (p.Ala1012Pro)
c.1585G>C (p.Ala529Pro)
2g.165370237G>TCA349028149SCN2Ac.3787G>T (p.Ala1263Ser)
c.*2106G>T (n.*2106G>T)
c.*1774G>T (n.*1774G>T)
c.*4310G>T (n.*4310G>T)
c.*1729G>T (n.*1729G>T)
c.3391G>T (p.Ala1131Ser)
n.3930G>T
c.3757G>T (p.Ala1253Ser)
c.3034G>T (p.Ala1012Ser)
c.1585G>T (p.Ala529Ser)
2g.165370238C>ACA349028154SCN2Ac.3788C>A (p.Ala1263Glu)
c.*2107C>A (n.*2107C>A)
c.*1775C>A (n.*1775C>A)
c.*4311C>A (n.*4311C>A)
c.*1730C>A (n.*1730C>A)
c.3392C>A (p.Ala1131Glu)
n.3931C>A
c.3758C>A (p.Ala1253Glu)
c.3035C>A (p.Ala1012Glu)
c.1586C>A (p.Ala529Glu)
2g.165370238C=CA1304556615SCN2Ac.3788C= (p.Ala1263=)
c.*2107C= (n.*2107C=)
c.*1775C= (n.*1775C=)
c.*4311C= (n.*4311C=)
c.*1730C= (n.*1730C=)
c.3392C= (p.Ala1131=)
n.3931C=
c.3758C= (p.Ala1253=)
c.3035C= (p.Ala1012=)
c.1586C= (p.Ala529=)
2g.165370238C>GCA349028156SCN2Ac.3788C>G (p.Ala1263Gly)
c.*2107C>G (n.*2107C>G)
c.*1775C>G (n.*1775C>G)
c.*4311C>G (n.*4311C>G)
c.*1730C>G (n.*1730C>G)
c.3392C>G (p.Ala1131Gly)
n.3931C>G
c.3758C>G (p.Ala1253Gly)
c.3035C>G (p.Ala1012Gly)
c.1586C>G (p.Ala529Gly)
2g.165370238C>TCA349028158SCN2Ac.3788C>T (p.Ala1263Val)
c.*2107C>T (n.*2107C>T)
c.*1775C>T (n.*1775C>T)
c.*4311C>T (n.*4311C>T)
c.*1730C>T (n.*1730C>T)
c.3392C>T (p.Ala1131Val)
n.3931C>T
c.3758C>T (p.Ala1253Val)
c.3035C>T (p.Ala1012Val)
c.1586C>T (p.Ala529Val)
 ClinVar dbSNP
2g.165370239A=CA1304556616SCN2Ac.3789A= (p.Ala1263=)
c.*2108A= (n.*2108A=)
c.*1776A= (n.*1776A=)
c.*4312A= (n.*4312A=)
c.*1731A= (n.*1731A=)
c.3393A= (p.Ala1131=)
n.3932A=
c.3759A= (p.Ala1253=)
c.3036A= (p.Ala1012=)
c.1587A= (p.Ala529=)
2g.165370239A>CCA429886286SCN2Ac.3789A>C (p.Ala1263=)
c.*2108A>C (n.*2108A>C)
c.*1776A>C (n.*1776A>C)
c.*4312A>C (n.*4312A>C)
c.*1731A>C (n.*1731A>C)
c.3393A>C (p.Ala1131=)
n.3932A>C
c.3759A>C (p.Ala1253=)
c.3036A>C (p.Ala1012=)
c.1587A>C (p.Ala529=)
2g.165370239A>GCA1940173SCN2Ac.3789A>G (p.Ala1263=)
c.*2108A>G (n.*2108A>G)
c.*1776A>G (n.*1776A>G)
c.*4312A>G (n.*4312A>G)
c.*1731A>G (n.*1731A>G)
c.3393A>G (p.Ala1131=)
n.3932A>G
c.3759A>G (p.Ala1253=)
c.3036A>G (p.Ala1012=)
c.1587A>G (p.Ala529=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165370239A>TCA429886288SCN2Ac.3789A>T (p.Ala1263=)
c.*2108A>T (n.*2108A>T)
c.*1776A>T (n.*1776A>T)
c.*4312A>T (n.*4312A>T)
c.*1731A>T (n.*1731A>T)
c.3393A>T (p.Ala1131=)
n.3932A>T
c.3759A>T (p.Ala1253=)
c.3036A>T (p.Ala1012=)
c.1587A>T (p.Ala529=)
 dbSNP
2g.165370240T>ACA349028162SCN2Ac.3790T>A (p.Tyr1264Asn)
c.*2109T>A (n.*2109T>A)
c.*1777T>A (n.*1777T>A)
c.*4313T>A (n.*4313T>A)
c.*1732T>A (n.*1732T>A)
c.3394T>A (p.Tyr1132Asn)
n.3933T>A
c.3760T>A (p.Tyr1254Asn)
c.3037T>A (p.Tyr1013Asn)
c.1588T>A (p.Tyr530Asn)
2g.165370240T>CCA349028167SCN2Ac.3790T>C (p.Tyr1264His)
c.*2109T>C (n.*2109T>C)
c.*1777T>C (n.*1777T>C)
c.*4313T>C (n.*4313T>C)
c.*1732T>C (n.*1732T>C)
c.3394T>C (p.Tyr1132His)
n.3933T>C
c.3760T>C (p.Tyr1254His)
c.3037T>C (p.Tyr1013His)
c.1588T>C (p.Tyr530His)
2g.165370240T>GCA349028165SCN2Ac.3790T>G (p.Tyr1264Asp)
c.*2109T>G (n.*2109T>G)
c.*1777T>G (n.*1777T>G)
c.*4313T>G (n.*4313T>G)
c.*1732T>G (n.*1732T>G)
c.3394T>G (p.Tyr1132Asp)
n.3933T>G
c.3760T>G (p.Tyr1254Asp)
c.3037T>G (p.Tyr1013Asp)
c.1588T>G (p.Tyr530Asp)
2g.165370241A>CCA349028170SCN2Ac.3791A>C (p.Tyr1264Ser)
c.*2110A>C (n.*2110A>C)
c.*1778A>C (n.*1778A>C)
c.*4314A>C (n.*4314A>C)
c.*1733A>C (n.*1733A>C)
c.3395A>C (p.Tyr1132Ser)
n.3934A>C
c.3761A>C (p.Tyr1254Ser)
c.3038A>C (p.Tyr1013Ser)
c.1589A>C (p.Tyr530Ser)
2g.165370241A>GCA349028172SCN2Ac.3791A>G (p.Tyr1264Cys)
c.*2110A>G (n.*2110A>G)
c.*1778A>G (n.*1778A>G)
c.*4314A>G (n.*4314A>G)
c.*1733A>G (n.*1733A>G)
c.3395A>G (p.Tyr1132Cys)
n.3934A>G
c.3761A>G (p.Tyr1254Cys)
c.3038A>G (p.Tyr1013Cys)
c.1589A>G (p.Tyr530Cys)
2g.165370241A>TCA349028175SCN2Ac.3791A>T (p.Tyr1264Phe)
c.*2110A>T (n.*2110A>T)
c.*1778A>T (n.*1778A>T)
c.*4314A>T (n.*4314A>T)
c.*1733A>T (n.*1733A>T)
c.3395A>T (p.Tyr1132Phe)
n.3934A>T
c.3761A>T (p.Tyr1254Phe)
c.3038A>T (p.Tyr1013Phe)
c.1589A>T (p.Tyr530Phe)
2g.165370241_165370244delinsATGGCA1304556617SCN2Ac.3791_3794delinsATGG (p.Tyr1264=)
c.*2110_*2113delinsATGG (n.*2110_*2113delinsATGG)
c.*1778_*1781delinsATGG (n.*1778_*1781delinsATGG)
c.*4314_*4317delinsATGG (n.*4314_*4317delinsATGG)
c.*1733_*1736delinsATGG (n.*1733_*1736delinsATGG)
c.3395_3398delinsATGG (p.Tyr1132=)
n.3934_3937delinsATGG
c.3761_3764delinsATGG (p.Tyr1254=)
c.3038_3041delinsATGG (p.Tyr1013=)
c.1589_1592delinsATGG (p.Tyr530=)
2g.165370242T>ACA349028178SCN2Ac.3792T>A (p.Tyr1264Ter)
c.*2111T>A (n.*2111T>A)
c.*1779T>A (n.*1779T>A)
c.*4315T>A (n.*4315T>A)
c.*1734T>A (n.*1734T>A)
c.3396T>A (p.Tyr1132Ter)
n.3935T>A
c.3762T>A (p.Tyr1254Ter)
c.3039T>A (p.Tyr1013Ter)
c.1590T>A (p.Tyr530Ter)
2g.165370242T>CCA429886292SCN2Ac.3792T>C (p.Tyr1264=)
c.*2111T>C (n.*2111T>C)
c.*1779T>C (n.*1779T>C)
c.*4315T>C (n.*4315T>C)
c.*1734T>C (n.*1734T>C)
c.3396T>C (p.Tyr1132=)
n.3935T>C
c.3762T>C (p.Tyr1254=)
c.3039T>C (p.Tyr1013=)
c.1590T>C (p.Tyr530=)
 gnomAD v4
2g.165370242T>GCA349028179SCN2Ac.3792T>G (p.Tyr1264Ter)
c.*2111T>G (n.*2111T>G)
c.*1779T>G (n.*1779T>G)
c.*4315T>G (n.*4315T>G)
c.*1734T>G (n.*1734T>G)
c.3396T>G (p.Tyr1132Ter)
n.3935T>G
c.3762T>G (p.Tyr1254Ter)
c.3039T>G (p.Tyr1013Ter)
c.1590T>G (p.Tyr530Ter)
2g.165370243_165370245delCA916082220SCN2Ac.3793_3795del (p.Gly1265del)
c.*2112_*2114del (n.*2112_*2114del)
c.*1780_*1782del (n.*1780_*1782del)
c.*4316_*4318del (n.*4316_*4318del)
c.*1735_*1737del (n.*1735_*1737del)
c.3397_3399del (p.Gly1133del)
n.3936_3938del
c.3763_3765del (p.Gly1255del)
c.3040_3042del (p.Gly1014del)
c.1591_1593del (p.Gly531del)
 ClinVar dbSNP
2g.165370243G>ACA349028181SCN2Ac.3793G>A (p.Gly1265Ser)
c.*2112G>A (n.*2112G>A)
c.*1780G>A (n.*1780G>A)
c.*4316G>A (n.*4316G>A)
c.*1735G>A (n.*1735G>A)
c.3397G>A (p.Gly1133Ser)
n.3936G>A
c.3763G>A (p.Gly1255Ser)
c.3040G>A (p.Gly1014Ser)
c.1591G>A (p.Gly531Ser)
2g.165370243G>CCA349028184SCN2Ac.3793G>C (p.Gly1265Arg)
c.*2112G>C (n.*2112G>C)
c.*1780G>C (n.*1780G>C)
c.*4316G>C (n.*4316G>C)
c.*1735G>C (n.*1735G>C)
c.3397G>C (p.Gly1133Arg)
n.3936G>C
c.3763G>C (p.Gly1255Arg)
c.3040G>C (p.Gly1014Arg)
c.1591G>C (p.Gly531Arg)
2g.165370243G>TCA349028191SCN2Ac.3793G>T (p.Gly1265Cys)
c.*2112G>T (n.*2112G>T)
c.*1780G>T (n.*1780G>T)
c.*4316G>T (n.*4316G>T)
c.*1735G>T (n.*1735G>T)
c.3397G>T (p.Gly1133Cys)
n.3936G>T
c.3763G>T (p.Gly1255Cys)
c.3040G>T (p.Gly1014Cys)
c.1591G>T (p.Gly531Cys)
2g.165370244G>ACA349028194SCN2Ac.3794G>A (p.Gly1265Asp)
c.*2113G>A (n.*2113G>A)
c.*1781G>A (n.*1781G>A)
c.*4317G>A (n.*4317G>A)
c.*1736G>A (n.*1736G>A)
c.3398G>A (p.Gly1133Asp)
n.3937G>A
c.3764G>A (p.Gly1255Asp)
c.3041G>A (p.Gly1014Asp)
c.1592G>A (p.Gly531Asp)
2g.165370244G>CCA349028196SCN2Ac.3794G>C (p.Gly1265Ala)
c.*2113G>C (n.*2113G>C)
c.*1781G>C (n.*1781G>C)
c.*4317G>C (n.*4317G>C)
c.*1736G>C (n.*1736G>C)
c.3398G>C (p.Gly1133Ala)
n.3937G>C
c.3764G>C (p.Gly1255Ala)
c.3041G>C (p.Gly1014Ala)
c.1592G>C (p.Gly531Ala)
2g.165370244G>TCA349028198SCN2Ac.3794G>T (p.Gly1265Val)
c.*2113G>T (n.*2113G>T)
c.*1781G>T (n.*1781G>T)
c.*4317G>T (n.*4317G>T)
c.*1736G>T (n.*1736G>T)
c.3398G>T (p.Gly1133Val)
n.3937G>T
c.3764G>T (p.Gly1255Val)
c.3041G>T (p.Gly1014Val)
c.1592G>T (p.Gly531Val)
2g.165370244_165370245delinsGTCA1304556618SCN2Ac.3794_3795delinsGT (p.Gly1265=)
c.*2113_*2114delinsGT (n.*2113_*2114delinsGT)
c.*1781_*1782delinsGT (n.*1781_*1782delinsGT)
c.*4317_*4318delinsGT (n.*4317_*4318delinsGT)
c.*1736_*1737delinsGT (n.*1736_*1737delinsGT)
c.3398_3399delinsGT (p.Gly1133=)
n.3937_3938delinsGT
c.3764_3765delinsGT (p.Gly1255=)
c.3041_3042delinsGT (p.Gly1014=)
c.1592_1593delinsGT (p.Gly531=)
2g.165370245T>ACA429886351SCN2Ac.3795T>A (p.Gly1265=)
c.*2114T>A (n.*2114T>A)
c.*1782T>A (n.*1782T>A)
c.*4318T>A (n.*4318T>A)
c.*1737T>A (n.*1737T>A)
c.3399T>A (p.Gly1133=)
n.3938T>A
c.3765T>A (p.Gly1255=)
c.3042T>A (p.Gly1014=)
c.1593T>A (p.Gly531=)
2g.165370245T>CCA429886352SCN2Ac.3795T>C (p.Gly1265=)
c.*2114T>C (n.*2114T>C)
c.*1782T>C (n.*1782T>C)
c.*4318T>C (n.*4318T>C)
c.*1737T>C (n.*1737T>C)
c.3399T>C (p.Gly1133=)
n.3938T>C
c.3765T>C (p.Gly1255=)
c.3042T>C (p.Gly1014=)
c.1593T>C (p.Gly531=)
2g.165370245T>GCA429886353SCN2Ac.3795T>G (p.Gly1265=)
c.*2114T>G (n.*2114T>G)
c.*1782T>G (n.*1782T>G)
c.*4318T>G (n.*4318T>G)
c.*1737T>G (n.*1737T>G)
c.3399T>G (p.Gly1133=)
n.3938T>G
c.3765T>G (p.Gly1255=)
c.3042T>G (p.Gly1014=)
c.1593T>G (p.Gly531=)
2g.165370248delCA1139657293SCN2Ac.3798del (p.Gln1267LysfsTer11)
c.*2117del (n.*2117del)
c.*1785del (n.*1785del)
c.*4321del (n.*4321del)
c.*1740del (n.*1740del)
c.3402del (p.Gln1135LysfsTer11)
n.3941del
c.3768del (p.Gln1257LysfsTer11)
c.3045del (p.Gln1016LysfsTer11)
c.1596del (p.Gln533LysfsTer11)
 ClinVar dbSNP
2g.165370246T>ACA349028201SCN2Ac.3796T>A (p.Phe1266Ile)
c.*2115T>A (n.*2115T>A)
c.*1783T>A (n.*1783T>A)
c.*4319T>A (n.*4319T>A)
c.*1738T>A (n.*1738T>A)
c.3400T>A (p.Phe1134Ile)
n.3939T>A
c.3766T>A (p.Phe1256Ile)
c.3043T>A (p.Phe1015Ile)
c.1594T>A (p.Phe532Ile)
2g.165370246T>CCA349028207SCN2Ac.3796T>C (p.Phe1266Leu)
c.*2115T>C (n.*2115T>C)
c.*1783T>C (n.*1783T>C)
c.*4319T>C (n.*4319T>C)
c.*1738T>C (n.*1738T>C)
c.3400T>C (p.Phe1134Leu)
n.3939T>C
c.3766T>C (p.Phe1256Leu)
c.3043T>C (p.Phe1015Leu)
c.1594T>C (p.Phe532Leu)
2g.165370246T>GCA349028203SCN2Ac.3796T>G (p.Phe1266Val)
c.*2115T>G (n.*2115T>G)
c.*1783T>G (n.*1783T>G)
c.*4319T>G (n.*4319T>G)
c.*1738T>G (n.*1738T>G)
c.3400T>G (p.Phe1134Val)
n.3939T>G
c.3766T>G (p.Phe1256Val)
c.3043T>G (p.Phe1015Val)
c.1594T>G (p.Phe532Val)
2g.165370247T>ACA349028209SCN2Ac.3797T>A (p.Phe1266Tyr)
c.*2116T>A (n.*2116T>A)
c.*1784T>A (n.*1784T>A)
c.*4320T>A (n.*4320T>A)
c.*1739T>A (n.*1739T>A)
c.3401T>A (p.Phe1134Tyr)
n.3940T>A
c.3767T>A (p.Phe1256Tyr)
c.3044T>A (p.Phe1015Tyr)
c.1595T>A (p.Phe532Tyr)
2g.165370247T>CCA349028211SCN2Ac.3797T>C (p.Phe1266Ser)
c.*2116T>C (n.*2116T>C)
c.*1784T>C (n.*1784T>C)
c.*4320T>C (n.*4320T>C)
c.*1739T>C (n.*1739T>C)
c.3401T>C (p.Phe1134Ser)
n.3940T>C
c.3767T>C (p.Phe1256Ser)
c.3044T>C (p.Phe1015Ser)
c.1595T>C (p.Phe532Ser)
2g.165370247T>GCA349028214SCN2Ac.3797T>G (p.Phe1266Cys)
c.*2116T>G (n.*2116T>G)
c.*1784T>G (n.*1784T>G)
c.*4320T>G (n.*4320T>G)
c.*1739T>G (n.*1739T>G)
c.3401T>G (p.Phe1134Cys)
n.3940T>G
c.3767T>G (p.Phe1256Cys)
c.3044T>G (p.Phe1015Cys)
c.1595T>G (p.Phe532Cys)

Number of alleles fetched