Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.165370153C>A | CA429886217 | SCN2A | c.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=) | |
2 | g.165370153C= | CA1304556579 | SCN2A | c.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=) | |
2 | g.165370153C>G | CA349027630 | SCN2A | c.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) | |
2 | g.165370153C>T | CA349027628 | SCN2A | c.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 |
2 | g.165370154G>A | CA349027638 | SCN2A | c.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 |
2 | g.165370154G>C | CA349027640 | SCN2A | c.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) | |
2 | g.165370154G= | CA1304556580 | SCN2A | c.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=) | |
2 | g.165370154G>T | CA349027639 | SCN2A | c.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) | |
2 | g.165370155A>C | CA429886218 | SCN2A | c.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=) | |
2 | g.165370155A>G | CA429886219 | SCN2A | c.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=) | |
2 | g.165370155A>T | CA429886220 | SCN2A | c.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=) | |
2 | g.165370156A= | CA1304556581 | SCN2A | c.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=) | |
2 | g.165370156A>C | CA349027641 | SCN2A | c.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) | |
2 | g.165370156A>G | CA349027642 | SCN2A | c.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 |
2 | g.165370156A>T | CA349027644 | SCN2A | c.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 |
2 | g.165370157A>C | CA349027646 | SCN2A | c.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) | |
2 | g.165370157A>G | CA349027649 | SCN2A | c.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 |
2 | g.165370157A>T | CA349027653 | SCN2A | c.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) | |
2 | g.165370158A>C | CA349027656 | SCN2A | c.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) | |
2 | g.165370158A>G | CA429886221 | SCN2A | c.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=) | |
2 | g.165370158A>T | CA349027658 | SCN2A | c.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) | |
2 | g.165370159A>C | CA349027660 | SCN2A | c.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 |
2 | g.165370159A>G | CA349027661 | SCN2A | c.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) | |
2 | g.165370159A>T | CA349027662 | SCN2A | c.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) | |
2 | g.165370160C>A | CA349027666 | SCN2A | c.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 |
2 | g.165370160C= | CA1304556582 | SCN2A | c.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=) | |
2 | g.165370160C>G | CA349027664 | SCN2A | c.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) | |
2 | g.165370160C>T | CA349027663 | SCN2A | c.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) | |
2 | g.165370161del | CA2499215162 | SCN2A | c.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 |
2 | g.165370161C>A | CA429886222 | SCN2A | c.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=) | |
2 | g.165370161C= | CA1304556583 | SCN2A | c.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=) | |
2 | g.165370161C>G | CA429886223 | SCN2A | c.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 |
2 | g.165370161C>T | CA429886224 | SCN2A | c.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=) | |
2 | g.165370162A= | CA1304556584 | SCN2A | c.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=) | |
2 | g.165370162A>C | CA349027668 | SCN2A | c.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) | |
2 | g.165370162A>G | CA349027669 | SCN2A | c.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 |
2 | g.165370162A>T | CA349027671 | SCN2A | c.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) | |
2 | g.165370163T>A | CA349027673 | SCN2A | c.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) | |
2 | g.165370163T>C | CA349027674 | SCN2A | c.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) | |
2 | g.165370163T>G | CA349027675 | SCN2A | c.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) | |
2 | g.165370164T>A | CA429886225 | SCN2A | c.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=) | |
2 | g.165370164T>C | CA429886226 | SCN2A | c.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=) | |
2 | g.165370164T>G | CA59734225 | SCN2A | c.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 |
2 | g.165370164T= | CA1304556585 | SCN2A | c.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=) | |
2 | g.165370165A= | CA1304556586 | SCN2A | c.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=) | |
2 | g.165370165A>C | CA349027677 | SCN2A | c.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) | |
2 | g.165370165A>G | CA349027679 | SCN2A | c.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) | |
2 | g.165370165A>T | CA349027685 | SCN2A | c.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 |
2 | g.165370166A>C | CA349027689 | SCN2A | c.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) | |
2 | g.165370166A>G | CA349027691 | SCN2A | c.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) | |
2 | g.165370166A>T | CA349027694 | SCN2A | c.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) | |
2 | g.165370167G>A | CA429886227 | SCN2A | c.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 |
2 | g.165370167G>C | CA349027699 | SCN2A | c.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) | |
2 | g.165370167G>T | CA349027697 | SCN2A | c.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) | |
2 | g.165370168A>C | CA349027701 | SCN2A | c.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) | |
2 | g.165370168A>G | CA349027707 | SCN2A | c.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) | |
2 | g.165370168A>T | CA349027702 | SCN2A | c.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) | |
2 | g.165370169C>A | CA349027710 | SCN2A | c.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 |
2 | g.165370169C>G | CA349027712 | SCN2A | c.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) | |
2 | g.165370169C>T | CA349027715 | SCN2A | c.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 |
2 | g.165370170C>A | CA429886228 | SCN2A | c.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=) | |
2 | g.165370170C>G | CA429886229 | SCN2A | c.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=) | |
2 | g.165370170C>T | CA429886230 | SCN2A | c.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=) | |
2 | g.165370171A= | CA1304556587 | SCN2A | c.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=) | |
2 | g.165370171A>C | CA349027718 | SCN2A | c.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) | |
2 | g.165370171A>G | CA349027725 | SCN2A | c.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 |
2 | g.165370171A>T | CA349027728 | SCN2A | c.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) | |
2 | g.165370172T>A | CA349027735 | SCN2A | c.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) | |
2 | g.165370172T>C | CA349027738 | SCN2A | c.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 |
2 | g.165370172T>G | CA349027739 | SCN2A | c.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) | |
2 | g.165370172T= | CA1304556588 | SCN2A | c.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=) | |
2 | g.165370173G>A | CA349027741 | SCN2A | c.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) | |
2 | g.165370173G>C | CA349027745 | SCN2A | c.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) | |
2 | g.165370173G>T | CA349027750 | SCN2A | c.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) | |
2 | g.165370174T>A | CA349027752 | SCN2A | c.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) | |
2 | g.165370174T>C | CA429886231 | SCN2A | c.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=) | |
2 | g.165370174T>G | CA349027755 | SCN2A | c.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) | |
2 | g.165370175T>A | CA349027756 | SCN2A | c.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) | |
2 | g.165370175T>C | CA349027757 | SCN2A | c.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) | |
2 | g.165370175T>G | CA349027758 | SCN2A | c.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) | |
2 | g.165370176A= | CA1304556589 | SCN2A | c.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=) | |
2 | g.165370176A>C | CA349027759 | SCN2A | c.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) | |
2 | g.165370176A>G | CA429886232 | SCN2A | c.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=) | |
2 | g.165370176A>T | CA349027760 | SCN2A | c.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 |
2 | g.165370177G>A | CA349027761 | SCN2A | c.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) | |
2 | g.165370177G>C | CA349027762 | SCN2A | c.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 |
2 | g.165370177G= | CA1304556590 | SCN2A | c.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=) | |
2 | g.165370177G>T | CA349027763 | SCN2A | c.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 |
2 | g.165370178A>C | CA349027764 | SCN2A | c.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) | |
2 | g.165370178A>G | CA349027765 | SCN2A | c.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) | |
2 | g.165370178A>T | CA349027766 | SCN2A | c.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) | |
2 | g.165370179A= | CA1304556591 | SCN2A | c.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=) | |
2 | g.165370179A>C | CA349027767 | SCN2A | c.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) | |
2 | g.165370179A>G | CA59734227 | SCN2A | c.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 |
2 | g.165370179A>T | CA349027768 | SCN2A | c.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) | |
2 | g.165370180T>A | CA349027771 | SCN2A | c.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) | |
2 | g.165370180T>C | CA349027773 | SCN2A | c.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 |
2 | g.165370180T>G | CA349027770 | SCN2A | c.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) | |
2 | g.165370181A= | CA1304556592 | SCN2A | c.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=) | |
2 | g.165370181A>C | CA349027775 | SCN2A | c.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) | |
2 | g.165370181A>G | CA1940165 | SCN2A | c.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 |
2 | g.165370181A>T | CA349027776 | SCN2A | c.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) | |
2 | g.165370182T>A | CA349027777 | SCN2A | c.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) | |
2 | g.165370182T>C | CA429886233 | SCN2A | c.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 |
2 | g.165370182T>G | CA349027778 | SCN2A | c.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) | |
2 | g.165370182T= | CA1304556593 | SCN2A | c.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=) | |
2 | g.165370183G>A | CA1940166 | SCN2A | c.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 |
2 | g.165370183G>C | CA349027781 | SCN2A | c.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) | |
2 | g.165370183G= | CA1304556594 | SCN2A | c.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=) | |
2 | g.165370183G>T | CA349027785 | SCN2A | c.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) | |
2 | g.165370184C>A | CA349027788 | SCN2A | c.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) | |
2 | g.165370184C= | CA1304556595 | SCN2A | c.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=) | |
2 | g.165370184C>G | CA349027790 | SCN2A | c.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) | |
2 | g.165370184C>T | CA1940167 | SCN2A | c.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 |
2 | g.165370185T>A | CA429886234 | SCN2A | c.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=) | |
2 | g.165370185T>C | CA1940168 | SCN2A | c.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 |
2 | g.165370185T>G | CA429886235 | SCN2A | c.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=) | |
2 | g.165370185T= | CA1304556596 | SCN2A | c.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=) | |
2 | g.165370186G>A | CA349027798 | SCN2A | c.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) | |
2 | g.165370186G>C | CA349027795 | SCN2A | c.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) | |
2 | g.165370186G>T | CA349027797 | SCN2A | c.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) | |
2 | g.165370186dup | CA1139657292 | SCN2A | c.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 |
2 | g.165370187A>C | CA349027807 | SCN2A | c.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) | |
2 | g.165370187A>G | CA349027808 | SCN2A | c.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) | |
2 | g.165370187A>T | CA349027813 | SCN2A | c.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) | |
2 | g.165370188C>A | CA349027817 | SCN2A | c.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) | |
2 | g.165370188C= | CA1304556597 | SCN2A | c.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=) | |
2 | g.165370188C>G | CA349027828 | SCN2A | c.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 |
2 | g.165370188C>T | CA429886236 | SCN2A | c.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 |
2 | g.165370189A= | CA1304556598 | SCN2A | c.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=) | |
2 | g.165370189A>C | CA349027831 | SCN2A | c.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) | |
2 | g.165370189A>G | CA349027847 | SCN2A | c.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) | |
2 | g.165370189A>T | CA349027832 | SCN2A | c.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 |
2 | g.165370190A>C | CA349027850 | SCN2A | c.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 |
2 | g.165370190A>G | CA349027856 | SCN2A | c.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) | |
2 | g.165370190A>T | CA349027858 | SCN2A | c.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) | |
2 | g.165370191G>A | CA429886237 | SCN2A | c.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=) | |
2 | g.165370191G>C | CA349027871 | SCN2A | c.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 |
2 | g.165370191G>T | CA349027872 | SCN2A | c.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) | |
2 | g.165370192G>A | CA349027873 | SCN2A | c.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) | |
2 | g.165370192G>C | CA1940169 | SCN2A | c.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 |
2 | g.165370192G= | CA1304556599 | SCN2A | c.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=) | |
2 | g.165370192G>T | CA349027874 | SCN2A | c.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) | |
2 | g.165370193T>A | CA349027879 | SCN2A | c.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) | |
2 | g.165370193T>C | CA349027882 | SCN2A | c.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) | |
2 | g.165370193T>G | CA349027884 | SCN2A | c.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) | |
2 | g.165370194T>A | CA429886240 | SCN2A | c.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=) | |
2 | g.165370194T>C | CA429886239 | SCN2A | c.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=) | |
2 | g.165370194T>G | CA429886238 | SCN2A | c.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 |
2 | g.165370195T>A | CA349027886 | SCN2A | c.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) | |
2 | g.165370195T>C | CA349027894 | SCN2A | c.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) | |
2 | g.165370195T>G | CA349027890 | SCN2A | c.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 |
2 | g.165370196T>A | CA349027896 | SCN2A | c.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) | |
2 | g.165370196T>C | CA349027900 | SCN2A | c.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) | |
2 | g.165370196T>G | CA349027903 | SCN2A | c.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) | |
2 | g.165370197C>A | CA349027905 | SCN2A | c.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) | |
2 | g.165370197C>G | CA349027909 | SCN2A | c.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) | |
2 | g.165370197C>T | CA429886242 | SCN2A | c.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=) | |
2 | g.165370198A>C | CA349027910 | SCN2A | c.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) | |
2 | g.165370198A>G | CA349027912 | SCN2A | c.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) | |
2 | g.165370198A>T | CA349027915 | SCN2A | c.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) | |
2 | g.165370199C>A | CA349027917 | SCN2A | c.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) | |
2 | g.165370199C= | CA1304556600 | SCN2A | c.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=) | |
2 | g.165370199C>G | CA349027919 | SCN2A | c.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) | |
2 | g.165370199C>T | CA349027921 | SCN2A | c.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 |
2 | g.165370200T>A | CA429886243 | SCN2A | c.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=) | |
2 | g.165370200T>C | CA429886244 | SCN2A | c.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 |
2 | g.165370200T>G | CA429886245 | SCN2A | c.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=) | |
2 | g.165370200T= | CA1304556601 | SCN2A | c.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=) | |
2 | g.165370201T>A | CA349027936 | SCN2A | c.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) | |
2 | g.165370201T>C | CA349027933 | SCN2A | c.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) | |
2 | g.165370201T>G | CA349027924 | SCN2A | c.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) | |
2 | g.165370202A= | CA1304556602 | SCN2A | c.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=) | |
2 | g.165370202A>C | CA349027937 | SCN2A | c.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) | |
2 | g.165370202A>G | CA349027940 | SCN2A | c.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) | |
2 | g.165370202A>T | CA349027941 | SCN2A | c.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 |
2 | g.165370203C>A | CA349027946 | SCN2A | c.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) | |
2 | g.165370203C= | CA1304556603 | SCN2A | c.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=) | |
2 | g.165370203C>G | CA349027949 | SCN2A | c.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) | |
2 | g.165370203C>T | CA1940170 | SCN2A | c.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 |
2 | g.165370204A= | CA1304556604 | SCN2A | c.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=) | |
2 | g.165370204A>C | CA349027950 | SCN2A | c.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 |
2 | g.165370204A>G | CA1940171 | SCN2A | c.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 |
2 | g.165370204A>T | CA349027951 | SCN2A | c.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) | |
2 | g.165370205T>A | CA349027956 | SCN2A | c.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) | |
2 | g.165370205T>C | CA349027960 | SCN2A | c.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 |
2 | g.165370205T>G | CA349027961 | SCN2A | c.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) | |
2 | g.165370206A>C | CA429886247 | SCN2A | c.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=) | |
2 | g.165370206A>G | CA349027963 | SCN2A | c.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) | |
2 | g.165370206A>T | CA429886248 | SCN2A | c.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=) | |
2 | g.165370207T>A | CA349027967 | SCN2A | c.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) | |
2 | g.165370207T>C | CA349027964 | SCN2A | c.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) | |
2 | g.165370207T>G | CA349027972 | SCN2A | c.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) | |
2 | g.165370208T>A | CA349027973 | SCN2A | c.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) | |
2 | g.165370208T>C | CA349027974 | SCN2A | c.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) | |
2 | g.165370208T>G | CA349027975 | SCN2A | c.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) | |
2 | g.165370209C>A | CA349027976 | SCN2A | c.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 |
2 | g.165370209C>G | CA349027977 | SCN2A | c.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) | |
2 | g.165370209C>T | CA429886250 | SCN2A | c.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=) | |
2 | g.165370210A>C | CA349027980 | SCN2A | c.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) | |
2 | g.165370210A>G | CA349027983 | SCN2A | c.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) | |
2 | g.165370210A>T | CA349027985 | SCN2A | c.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 |
2 | g.165370211T>A | CA349027986 | SCN2A | c.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) | |
2 | g.165370211T>C | CA349027987 | SCN2A | c.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) | |
2 | g.165370211T>G | CA349027988 | SCN2A | c.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) | |
2 | g.165370212T>A | CA429886252 | SCN2A | c.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=) | |
2 | g.165370212T>C | CA429886253 | SCN2A | c.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 |
2 | g.165370212T>G | CA349027989 | SCN2A | c.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) | |
2 | g.165370213C>A | CA349027990 | SCN2A | c.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) | |
2 | g.165370213C= | CA1304556605 | SCN2A | c.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=) | |
2 | g.165370213C>G | CA349027992 | SCN2A | c.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) | |
2 | g.165370213C>T | CA429886254 | SCN2A | c.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 |
2 | g.165370214T>A | CA349027994 | SCN2A | c.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) | |
2 | g.165370214T>C | CA349027996 | SCN2A | c.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) | |
2 | g.165370214T>G | CA349027997 | SCN2A | c.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) | |
2 | g.165370215G>A | CA429886256 | SCN2A | c.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=) | |
2 | g.165370215G>C | CA429886259 | SCN2A | c.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=) | |
2 | g.165370215G>T | CA429886258 | SCN2A | c.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=) | |
2 | g.165370216G>A | CA349028010 | SCN2A | c.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) | |
2 | g.165370216G>C | CA349028013 | SCN2A | c.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) | |
2 | g.165370216G= | CA1304556606 | SCN2A | c.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=) | |
2 | g.165370216G>T | CA349028023 | SCN2A | c.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 |
2 | g.165370217A>C | CA349028027 | SCN2A | c.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) | |
2 | g.165370217A>G | CA349028032 | SCN2A | c.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 |
2 | g.165370217A>T | CA349028035 | SCN2A | c.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) | |
2 | g.165370219dup | CA59734261 | SCN2A | c.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 |
2 | g.165370218A= | CA1304556607 | SCN2A | c.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=) | |
2 | g.165370218A>C | CA349028036 | SCN2A | c.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) | |
2 | g.165370218A>G | CA429886263 | SCN2A | c.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=) | |
2 | g.165370218A>T | CA349028038 | SCN2A | c.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 |
2 | g.165370219A>C | CA349028047 | SCN2A | c.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) | |
2 | g.165370219A>G | CA349028049 | SCN2A | c.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) | |
2 | g.165370219A>T | CA349028040 | SCN2A | c.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) | |
2 | g.165370220T>A | CA349028052 | SCN2A | c.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) | |
2 | g.165370220T>C | CA349028054 | SCN2A | c.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) | |
2 | g.165370220T>G | CA349028058 | SCN2A | c.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) | |
2 | g.165370221G>A | CA349028061 | SCN2A | c.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) | |
2 | g.165370221G>C | CA349028064 | SCN2A | c.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) | |
2 | g.165370221G>T | CA349028065 | SCN2A | c.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) | |
2 | g.165370222C>A | CA349028067 | SCN2A | c.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 |
2 | g.165370222C>G | CA349028069 | SCN2A | c.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) | |
2 | g.165370222C>T | CA429886267 | SCN2A | c.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=) | |
2 | g.165370223T>A | CA349028073 | SCN2A | c.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) | |
2 | g.165370223T>C | CA349028076 | SCN2A | c.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) | |
2 | g.165370223T>G | CA349028077 | SCN2A | c.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) | |
2 | g.165370224G>A | CA429886270 | SCN2A | c.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 |
2 | g.165370224G>C | CA429886271 | SCN2A | c.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=) | |
2 | g.165370224G>T | CA429886272 | SCN2A | c.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=) | |
2 | g.165370225C>A | CA349028079 | SCN2A | c.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) | |
2 | g.165370225C= | CA1304556608 | SCN2A | c.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=) | |
2 | g.165370225C>G | CA349028081 | SCN2A | c.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) | |
2 | g.165370225C>T | CA429886273 | SCN2A | c.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 |
2 | g.165370226T>A | CA349028083 | SCN2A | c.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) | |
2 | g.165370226T>C | CA349028086 | SCN2A | c.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) | |
2 | g.165370226T>G | CA349028084 | SCN2A | c.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) | |
2 | g.165370227A>C | CA429886275 | SCN2A | c.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=) | |
2 | g.165370227A>G | CA429886276 | SCN2A | c.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=) | |
2 | g.165370227A>T | CA429886277 | SCN2A | c.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=) | |
2 | g.165370228A= | CA1304556609 | SCN2A | c.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=) | |
2 | g.165370228A>C | CA349028088 | SCN2A | c.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 |
2 | g.165370228A>G | CA349028090 | SCN2A | c.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 |
2 | g.165370228A>T | CA349028092 | SCN2A | c.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 |
2 | g.165370229A>C | CA349028095 | SCN2A | c.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) | |
2 | g.165370229A>G | CA349028099 | SCN2A | c.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) | |
2 | g.165370229A>T | CA349028100 | SCN2A | c.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) | |
2 | g.165370230G>A | CA1940172 | SCN2A | c.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 |
2 | g.165370230G>C | CA349028102 | SCN2A | c.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 |
2 | g.165370230G= | CA1304556610 | SCN2A | c.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=) | |
2 | g.165370230G>T | CA349028108 | SCN2A | c.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 |
2 | g.165370231T>A | CA349028111 | SCN2A | c.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) | |
2 | g.165370231T>C | CA349028112 | SCN2A | c.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) | |
2 | g.165370231T>G | CA349028113 | SCN2A | c.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) | |
2 | g.165370232G>A | CA349028129 | SCN2A | c.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 |
2 | g.165370232G>C | CA349028132 | SCN2A | c.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) | |
2 | g.165370232G= | CA1304556611 | SCN2A | c.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=) | |
2 | g.165370232G>T | CA349028122 | SCN2A | c.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) | |
2 | g.165370233G>A | CA349028138 | SCN2A | c.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 |
2 | g.165370233G>C | CA349028134 | SCN2A | c.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) | |
2 | g.165370233G= | CA1304556612 | SCN2A | c.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=) | |
2 | g.165370233G>T | CA349028137 | SCN2A | c.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) | |
2 | g.165370234G>A | CA349028139 | SCN2A | c.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 |
2 | g.165370234G>C | CA349028140 | SCN2A | c.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) | |
2 | g.165370234G= | CA1304556613 | SCN2A | c.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=) | |
2 | g.165370234G>T | CA349028141 | SCN2A | c.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) | |
2 | g.165370235T>A | CA349028142 | SCN2A | c.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 |
2 | g.165370235T>C | CA349028143 | SCN2A | c.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) | |
2 | g.165370235T>G | CA349028145 | SCN2A | c.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) | |
2 | g.165370235T= | CA1304556614 | SCN2A | c.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=) | |
2 | g.165370236T>A | CA429886282 | SCN2A | c.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=) | |
2 | g.165370236T>C | CA429886283 | SCN2A | c.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=) | |
2 | g.165370236T>G | CA429886284 | SCN2A | c.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=) | |
2 | g.165370237G>A | CA349028147 | SCN2A | c.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) | |
2 | g.165370237G>C | CA349028151 | SCN2A | c.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) | |
2 | g.165370237G>T | CA349028149 | SCN2A | c.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) | |
2 | g.165370238C>A | CA349028154 | SCN2A | c.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) | |
2 | g.165370238C= | CA1304556615 | SCN2A | c.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=) | |
2 | g.165370238C>G | CA349028156 | SCN2A | c.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) | |
2 | g.165370238C>T | CA349028158 | SCN2A | c.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 |
2 | g.165370239A= | CA1304556616 | SCN2A | c.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=) | |
2 | g.165370239A>C | CA429886286 | SCN2A | c.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=) | |
2 | g.165370239A>G | CA1940173 | SCN2A | c.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 |
2 | g.165370239A>T | CA429886288 | SCN2A | c.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 |
2 | g.165370240T>A | CA349028162 | SCN2A | c.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) | |
2 | g.165370240T>C | CA349028167 | SCN2A | c.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) | |
2 | g.165370240T>G | CA349028165 | SCN2A | c.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) | |
2 | g.165370241A>C | CA349028170 | SCN2A | c.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) | |
2 | g.165370241A>G | CA349028172 | SCN2A | c.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) | |
2 | g.165370241A>T | CA349028175 | SCN2A | c.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) | |
2 | g.165370241_165370244delinsATGG | CA1304556617 | SCN2A | c.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=) | |
2 | g.165370242T>A | CA349028178 | SCN2A | c.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) | |
2 | g.165370242T>C | CA429886292 | SCN2A | c.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 |
2 | g.165370242T>G | CA349028179 | SCN2A | c.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) | |
2 | g.165370243_165370245del | CA916082220 | SCN2A | c.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 |
2 | g.165370243G>A | CA349028181 | SCN2A | c.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) | |
2 | g.165370243G>C | CA349028184 | SCN2A | c.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) | |
2 | g.165370243G>T | CA349028191 | SCN2A | c.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) | |
2 | g.165370244G>A | CA349028194 | SCN2A | c.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) | |
2 | g.165370244G>C | CA349028196 | SCN2A | c.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) | |
2 | g.165370244G>T | CA349028198 | SCN2A | c.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) | |
2 | g.165370244_165370245delinsGT | CA1304556618 | SCN2A | c.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=) | |
2 | g.165370245T>A | CA429886351 | SCN2A | c.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=) | |
2 | g.165370245T>C | CA429886352 | SCN2A | c.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=) | |
2 | g.165370245T>G | CA429886353 | SCN2A | c.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=) | |
2 | g.165370248del | CA1139657293 | SCN2A | c.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 |
2 | g.165370246T>A | CA349028201 | SCN2A | c.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) | |
2 | g.165370246T>C | CA349028207 | SCN2A | c.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) | |
2 | g.165370246T>G | CA349028203 | SCN2A | c.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) | |
2 | g.165370247T>A | CA349028209 | SCN2A | c.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) | |
2 | g.165370247T>C | CA349028211 | SCN2A | c.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) | |
2 | g.165370247T>G | CA349028214 | SCN2A | c.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) | |
2 | g.165370248T>A | CA349028217 | SCN2A | c.3798T>A (p.Phe1266Leu) c.*2117T>A (n.*2117T>A) c.*1785T>A (n.*1785T>A) c.*4321T>A (n.*4321T>A) c.*1740T>A (n.*1740T>A) c.3402T>A (p.Phe1134Leu) n.3941T>A c.3768T>A (p.Phe1256Leu) c.3045T>A (p.Phe1015Leu) c.1596T>A (p.Phe532Leu) | |
2 | g.165370248T>C | CA429886355 | SCN2A | c.3798T>C (p.Phe1266=) c.*2117T>C (n.*2117T>C) c.*1785T>C (n.*1785T>C) c.*4321T>C (n.*4321T>C) c.*1740T>C (n.*1740T>C) c.3402T>C (p.Phe1134=) n.3941T>C c.3768T>C (p.Phe1256=) c.3045T>C (p.Phe1015=) c.1596T>C (p.Phe532=) | |
2 | g.165370248T>G | CA349028219 | SCN2A | c.3798T>G (p.Phe1266Leu) c.*2117T>G (n.*2117T>G) c.*1785T>G (n.*1785T>G) c.*4321T>G (n.*4321T>G) c.*1740T>G (n.*1740T>G) c.3402T>G (p.Phe1134Leu) n.3941T>G c.3768T>G (p.Phe1256Leu) c.3045T>G (p.Phe1015Leu) c.1596T>G (p.Phe532Leu) | COSMIC COSMIC |
2 | g.165370248_165370249insTCG | CA2571014156 | SCN2A | c.3798_3799insTCG (p.Phe1266_Gln1267insSer) c.*2117_*2118insTCG (n.*2117_*2118insTCG) c.*1785_*1786insTCG (n.*1785_*1786insTCG) c.*4321_*4322insTCG (n.*4321_*4322insTCG) c.*1740_*1741insTCG (n.*1740_*1741insTCG) c.3402_3403insTCG (p.Phe1134_Gln1135insSer) n.3941_3942insTCG c.3768_3769insTCG (p.Phe1256_Gln1257insSer) c.3045_3046insTCG (p.Phe1015_Gln1016insSer) c.1596_1597insTCG (p.Phe532_Gln533insSer) | |
2 | g.165370249C>A | CA349028221 | SCN2A | c.3799C>A (p.Gln1267Lys) c.*2118C>A (n.*2118C>A) c.*1786C>A (n.*1786C>A) c.*4322C>A (n.*4322C>A) c.*1741C>A (n.*1741C>A) c.3403C>A (p.Gln1135Lys) n.3942C>A c.3769C>A (p.Gln1257Lys) c.3046C>A (p.Gln1016Lys) c.1597C>A (p.Gln533Lys) | |
2 | g.165370249C= | CA1304556619 | SCN2A | c.3799C= (p.Gln1267=) c.*2118C= (n.*2118C=) c.*1786C= (n.*1786C=) c.*4322C= (n.*4322C=) c.*1741C= (n.*1741C=) c.3403C= (p.Gln1135=) n.3942C= c.3769C= (p.Gln1257=) c.3046C= (p.Gln1016=) c.1597C= (p.Gln533=) | |
2 | g.165370249C>G | CA349028224 | SCN2A | c.3799C>G (p.Gln1267Glu) c.*2118C>G (n.*2118C>G) c.*1786C>G (n.*1786C>G) c.*4322C>G (n.*4322C>G) c.*1741C>G (n.*1741C>G) c.3403C>G (p.Gln1135Glu) n.3942C>G c.3769C>G (p.Gln1257Glu) c.3046C>G (p.Gln1016Glu) c.1597C>G (p.Gln533Glu) | |
2 | g.165370249C>T | CA349028225 | SCN2A | c.3799C>T (p.Gln1267Ter) c.*2118C>T (n.*2118C>T) c.*1786C>T (n.*1786C>T) c.*4322C>T (n.*4322C>T) c.*1741C>T (n.*1741C>T) c.3403C>T (p.Gln1135Ter) n.3942C>T c.3769C>T (p.Gln1257Ter) c.3046C>T (p.Gln1016Ter) c.1597C>T (p.Gln533Ter) | dbSNP |
2 | g.165370250A>C | CA349028228 | SCN2A | c.3800A>C (p.Gln1267Pro) c.*2119A>C (n.*2119A>C) c.*1787A>C (n.*1787A>C) c.*4323A>C (n.*4323A>C) c.*1742A>C (n.*1742A>C) c.3404A>C (p.Gln1135Pro) n.3943A>C c.3770A>C (p.Gln1257Pro) c.3047A>C (p.Gln1016Pro) c.1598A>C (p.Gln533Pro) | |
2 | g.165370250A>G | CA349028231 | SCN2A | c.3800A>G (p.Gln1267Arg) c.*2119A>G (n.*2119A>G) c.*1787A>G (n.*1787A>G) c.*4323A>G (n.*4323A>G) c.*1742A>G (n.*1742A>G) c.3404A>G (p.Gln1135Arg) n.3943A>G c.3770A>G (p.Gln1257Arg) c.3047A>G (p.Gln1016Arg) c.1598A>G (p.Gln533Arg) | |
2 | g.165370250A>T | CA349028233 | SCN2A | c.3800A>T (p.Gln1267Leu) c.*2119A>T (n.*2119A>T) c.*1787A>T (n.*1787A>T) c.*4323A>T (n.*4323A>T) c.*1742A>T (n.*1742A>T) c.3404A>T (p.Gln1135Leu) n.3943A>T c.3770A>T (p.Gln1257Leu) c.3047A>T (p.Gln1016Leu) c.1598A>T (p.Gln533Leu) | |
2 | g.165370251A= | CA1304556620 | SCN2A | c.3801A= (p.Gln1267=) c.*2120A= (n.*2120A=) c.*1788A= (n.*1788A=) c.*4324A= (n.*4324A=) c.*1743A= (n.*1743A=) c.3405A= (p.Gln1135=) n.3944A= c.3771A= (p.Gln1257=) c.3048A= (p.Gln1016=) c.1599A= (p.Gln533=) | |
2 | g.165370251A>C | CA349028235 | SCN2A | c.3801A>C (p.Gln1267His) c.*2120A>C (n.*2120A>C) c.*1788A>C (n.*1788A>C) c.*4324A>C (n.*4324A>C) c.*1743A>C (n.*1743A>C) c.3405A>C (p.Gln1135His) n.3944A>C c.3771A>C (p.Gln1257His) c.3048A>C (p.Gln1016His) c.1599A>C (p.Gln533His) | |
2 | g.165370251A>G | CA59734302 | SCN2A | c.3801A>G (p.Gln1267=) c.*2120A>G (n.*2120A>G) c.*1788A>G (n.*1788A>G) c.*4324A>G (n.*4324A>G) c.*1743A>G (n.*1743A>G) c.3405A>G (p.Gln1135=) n.3944A>G c.3771A>G (p.Gln1257=) c.3048A>G (p.Gln1016=) c.1599A>G (p.Gln533=) | dbSNP gnomAD v4 |
2 | g.165370251A>T | CA349028237 | SCN2A | c.3801A>T (p.Gln1267His) c.*2120A>T (n.*2120A>T) c.*1788A>T (n.*1788A>T) c.*4324A>T (n.*4324A>T) c.*1743A>T (n.*1743A>T) c.3405A>T (p.Gln1135His) n.3944A>T c.3771A>T (p.Gln1257His) c.3048A>T (p.Gln1016His) c.1599A>T (p.Gln533His) | |
2 | g.165370252G>A | CA349028240 | SCN2A | c.3802G>A (p.Val1268Met) c.*2121G>A (n.*2121G>A) c.*1789G>A (n.*1789G>A) c.*4325G>A (n.*4325G>A) c.*1744G>A (n.*1744G>A) c.3406G>A (p.Val1136Met) n.3945G>A c.3772G>A (p.Val1258Met) c.3049G>A (p.Val1017Met) c.1600G>A (p.Val534Met) | |
2 | g.165370252G>C | CA349028243 | SCN2A | c.3802G>C (p.Val1268Leu) c.*2121G>C (n.*2121G>C) c.*1789G>C (n.*1789G>C) c.*4325G>C (n.*4325G>C) c.*1744G>C (n.*1744G>C) c.3406G>C (p.Val1136Leu) n.3945G>C c.3772G>C (p.Val1258Leu) c.3049G>C (p.Val1017Leu) c.1600G>C (p.Val534Leu) | ClinVar dbSNP |
2 | g.165370252G= | CA1304556621 | SCN2A | c.3802G= (p.Val1268=) c.*2121G= (n.*2121G=) c.*1789G= (n.*1789G=) c.*4325G= (n.*4325G=) c.*1744G= (n.*1744G=) c.3406G= (p.Val1136=) n.3945G= c.3772G= (p.Val1258=) c.3049G= (p.Val1017=) c.1600G= (p.Val534=) | |
2 | g.165370252G>T | CA349028242 | SCN2A | c.3802G>T (p.Val1268Leu) c.*2121G>T (n.*2121G>T) c.*1789G>T (n.*1789G>T) c.*4325G>T (n.*4325G>T) c.*1744G>T (n.*1744G>T) c.3406G>T (p.Val1136Leu) n.3945G>T c.3772G>T (p.Val1258Leu) c.3049G>T (p.Val1017Leu) c.1600G>T (p.Val534Leu) | COSMIC COSMIC |
2 | g.165370252dup | CA2573133453 | SCN2A | c.3802dup (p.Val1268GlyfsTer16) c.*2121dup (n.*2121dup) c.*1789dup (n.*1789dup) c.*4325dup (n.*4325dup) c.*1744dup (n.*1744dup) c.3406dup (p.Val1136GlyfsTer16) n.3945dup c.3772dup (p.Val1258GlyfsTer16) c.3049dup (p.Val1017GlyfsTer16) c.1600dup (p.Val534GlyfsTer16) | ClinVar dbSNP |
2 | g.165370253T>A | CA1940174 | SCN2A | c.3803T>A (p.Val1268Glu) c.*2122T>A (n.*2122T>A) c.*1790T>A (n.*1790T>A) c.*4326T>A (n.*4326T>A) c.*1745T>A (n.*1745T>A) c.3407T>A (p.Val1136Glu) n.3946T>A c.3773T>A (p.Val1258Glu) c.3050T>A (p.Val1017Glu) c.1601T>A (p.Val534Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.165370253T>C | CA349028250 | SCN2A | c.3803T>C (p.Val1268Ala) c.*2122T>C (n.*2122T>C) c.*1790T>C (n.*1790T>C) c.*4326T>C (n.*4326T>C) c.*1745T>C (n.*1745T>C) c.3407T>C (p.Val1136Ala) n.3946T>C c.3773T>C (p.Val1258Ala) c.3050T>C (p.Val1017Ala) c.1601T>C (p.Val534Ala) | |
2 | g.165370253T>G | CA349028253 | SCN2A | c.3803T>G (p.Val1268Gly) c.*2122T>G (n.*2122T>G) c.*1790T>G (n.*1790T>G) c.*4326T>G (n.*4326T>G) c.*1745T>G (n.*1745T>G) c.3407T>G (p.Val1136Gly) n.3946T>G c.3773T>G (p.Val1258Gly) c.3050T>G (p.Val1017Gly) c.1601T>G (p.Val534Gly) | |
2 | g.165370253T= | CA1304556622 | SCN2A | c.3803T= (p.Val1268=) c.*2122T= (n.*2122T=) c.*1790T= (n.*1790T=) c.*4326T= (n.*4326T=) c.*1745T= (n.*1745T=) c.3407T= (p.Val1136=) n.3946T= c.3773T= (p.Val1258=) c.3050T= (p.Val1017=) c.1601T= (p.Val534=) |