Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.165380591_165380638del | CA2843284763 | SCN2A | c.4309-1_4355del c.*2628-1_*2674del c.*2296-1_*2342del c.*4832-1_*4878del c.*2251-1_*2297del c.3913-1_3959del n.7377-1_7423del c.4279-1_4325del c.3556-1_3602del c.2107-1_2153del | |
2 | g.165380613G>A | CA349033682 | SCN2A | c.4330G>A (p.Glu1444Lys) c.*2649G>A (n.*2649G>A) c.*2317G>A (n.*2317G>A) c.*4853G>A (n.*4853G>A) c.*2272G>A (n.*2272G>A) c.3934G>A (p.Glu1312Lys) n.7398G>A c.4300G>A (p.Glu1434Lys) c.3577G>A (p.Glu1193Lys) c.2128G>A (p.Glu710Lys) | |
2 | g.165380613G>C | CA349033683 | SCN2A | c.4330G>C (p.Glu1444Gln) c.*2649G>C (n.*2649G>C) c.*2317G>C (n.*2317G>C) c.*4853G>C (n.*4853G>C) c.*2272G>C (n.*2272G>C) c.3934G>C (p.Glu1312Gln) n.7398G>C c.4300G>C (p.Glu1434Gln) c.3577G>C (p.Glu1193Gln) c.2128G>C (p.Glu710Gln) | |
2 | g.165380613G= | CA1304561028 | SCN2A | c.4330G= (p.Glu1444=) c.*2649G= (n.*2649G=) c.*2317G= (n.*2317G=) c.*4853G= (n.*4853G=) c.*2272G= (n.*2272G=) c.3934G= (p.Glu1312=) n.7398G= c.4300G= (p.Glu1434=) c.3577G= (p.Glu1193=) c.2128G= (p.Glu710=) | |
2 | g.165380613G>T | CA349033685 | SCN2A | c.4330G>T (p.Glu1444Ter) c.*2649G>T (n.*2649G>T) c.*2317G>T (n.*2317G>T) c.*4853G>T (n.*4853G>T) c.*2272G>T (n.*2272G>T) c.3934G>T (p.Glu1312Ter) n.7398G>T c.4300G>T (p.Glu1434Ter) c.3577G>T (p.Glu1193Ter) c.2128G>T (p.Glu710Ter) | dbSNP |
2 | g.165380614A>C | CA349033693 | SCN2A | c.4331A>C (p.Glu1444Ala) c.*2650A>C (n.*2650A>C) c.*2318A>C (n.*2318A>C) c.*4854A>C (n.*4854A>C) c.*2273A>C (n.*2273A>C) c.3935A>C (p.Glu1312Ala) n.7399A>C c.4301A>C (p.Glu1434Ala) c.3578A>C (p.Glu1193Ala) c.2129A>C (p.Glu710Ala) | |
2 | g.165380614A>G | CA349033689 | SCN2A | c.4331A>G (p.Glu1444Gly) c.*2650A>G (n.*2650A>G) c.*2318A>G (n.*2318A>G) c.*4854A>G (n.*4854A>G) c.*2273A>G (n.*2273A>G) c.3935A>G (p.Glu1312Gly) n.7399A>G c.4301A>G (p.Glu1434Gly) c.3578A>G (p.Glu1193Gly) c.2129A>G (p.Glu710Gly) | |
2 | g.165380614A>T | CA349033688 | SCN2A | c.4331A>T (p.Glu1444Val) c.*2650A>T (n.*2650A>T) c.*2318A>T (n.*2318A>T) c.*4854A>T (n.*4854A>T) c.*2273A>T (n.*2273A>T) c.3935A>T (p.Glu1312Val) n.7399A>T c.4301A>T (p.Glu1434Val) c.3578A>T (p.Glu1193Val) c.2129A>T (p.Glu710Val) | |
2 | g.165380615A>C | CA349033696 | SCN2A | c.4332A>C (p.Glu1444Asp) c.*2651A>C (n.*2651A>C) c.*2319A>C (n.*2319A>C) c.*4855A>C (n.*4855A>C) c.*2274A>C (n.*2274A>C) c.3936A>C (p.Glu1312Asp) n.7400A>C c.4302A>C (p.Glu1434Asp) c.3579A>C (p.Glu1193Asp) c.2130A>C (p.Glu710Asp) | |
2 | g.165380615A>G | CA429888134 | SCN2A | c.4332A>G (p.Glu1444=) c.*2651A>G (n.*2651A>G) c.*2319A>G (n.*2319A>G) c.*4855A>G (n.*4855A>G) c.*2274A>G (n.*2274A>G) c.3936A>G (p.Glu1312=) n.7400A>G c.4302A>G (p.Glu1434=) c.3579A>G (p.Glu1193=) c.2130A>G (p.Glu710=) | |
2 | g.165380615A>T | CA349033698 | SCN2A | c.4332A>T (p.Glu1444Asp) c.*2651A>T (n.*2651A>T) c.*2319A>T (n.*2319A>T) c.*4855A>T (n.*4855A>T) c.*2274A>T (n.*2274A>T) c.3936A>T (p.Glu1312Asp) n.7400A>T c.4302A>T (p.Glu1434Asp) c.3579A>T (p.Glu1193Asp) c.2130A>T (p.Glu710Asp) | |
2 | g.165380616G>A | CA349033704 | SCN2A | c.4333G>A (p.Asp1445Asn) c.*2652G>A (n.*2652G>A) c.*2320G>A (n.*2320G>A) c.*4856G>A (n.*4856G>A) c.*2275G>A (n.*2275G>A) c.3937G>A (p.Asp1313Asn) n.7401G>A c.4303G>A (p.Asp1435Asn) c.3580G>A (p.Asp1194Asn) c.2131G>A (p.Asp711Asn) | |
2 | g.165380616G>C | CA349033708 | SCN2A | c.4333G>C (p.Asp1445His) c.*2652G>C (n.*2652G>C) c.*2320G>C (n.*2320G>C) c.*4856G>C (n.*4856G>C) c.*2275G>C (n.*2275G>C) c.3937G>C (p.Asp1313His) n.7401G>C c.4303G>C (p.Asp1435His) c.3580G>C (p.Asp1194His) c.2131G>C (p.Asp711His) | |
2 | g.165380616G>T | CA349033709 | SCN2A | c.4333G>T (p.Asp1445Tyr) c.*2652G>T (n.*2652G>T) c.*2320G>T (n.*2320G>T) c.*4856G>T (n.*4856G>T) c.*2275G>T (n.*2275G>T) c.3937G>T (p.Asp1313Tyr) n.7401G>T c.4303G>T (p.Asp1435Tyr) c.3580G>T (p.Asp1194Tyr) c.2131G>T (p.Asp711Tyr) | |
2 | g.165380617A= | CA1304561029 | SCN2A | c.4334A= (p.Asp1445=) c.*2653A= (n.*2653A=) c.*2321A= (n.*2321A=) c.*4857A= (n.*4857A=) c.*2276A= (n.*2276A=) c.3938A= (p.Asp1313=) n.7402A= c.4304A= (p.Asp1435=) c.3581A= (p.Asp1194=) c.2132A= (p.Asp711=) | |
2 | g.165380617A>C | CA349033713 | SCN2A | c.4334A>C (p.Asp1445Ala) c.*2653A>C (n.*2653A>C) c.*2321A>C (n.*2321A>C) c.*4857A>C (n.*4857A>C) c.*2276A>C (n.*2276A>C) c.3938A>C (p.Asp1313Ala) n.7402A>C c.4304A>C (p.Asp1435Ala) c.3581A>C (p.Asp1194Ala) c.2132A>C (p.Asp711Ala) | |
2 | g.165380617A>G | CA1940267 | SCN2A | c.4334A>G (p.Asp1445Gly) c.*2653A>G (n.*2653A>G) c.*2321A>G (n.*2321A>G) c.*4857A>G (n.*4857A>G) c.*2276A>G (n.*2276A>G) c.3938A>G (p.Asp1313Gly) n.7402A>G c.4304A>G (p.Asp1435Gly) c.3581A>G (p.Asp1194Gly) c.2132A>G (p.Asp711Gly) | dbSNP ExAC gnomAD v2 |
2 | g.165380617A>T | CA349033717 | SCN2A | c.4334A>T (p.Asp1445Val) c.*2653A>T (n.*2653A>T) c.*2321A>T (n.*2321A>T) c.*4857A>T (n.*4857A>T) c.*2276A>T (n.*2276A>T) c.3938A>T (p.Asp1313Val) n.7402A>T c.4304A>T (p.Asp1435Val) c.3581A>T (p.Asp1194Val) c.2132A>T (p.Asp711Val) | |
2 | g.165380618C>A | CA349033720 | SCN2A | c.4335C>A (p.Asp1445Glu) c.*2654C>A (n.*2654C>A) c.*2322C>A (n.*2322C>A) c.*4858C>A (n.*4858C>A) c.*2277C>A (n.*2277C>A) c.3939C>A (p.Asp1313Glu) n.7403C>A c.4305C>A (p.Asp1435Glu) c.3582C>A (p.Asp1194Glu) c.2133C>A (p.Asp711Glu) | gnomAD v4 |
2 | g.165380618C>G | CA349033721 | SCN2A | c.4335C>G (p.Asp1445Glu) c.*2654C>G (n.*2654C>G) c.*2322C>G (n.*2322C>G) c.*4858C>G (n.*4858C>G) c.*2277C>G (n.*2277C>G) c.3939C>G (p.Asp1313Glu) n.7403C>G c.4305C>G (p.Asp1435Glu) c.3582C>G (p.Asp1194Glu) c.2133C>G (p.Asp711Glu) | |
2 | g.165380618C>T | CA429888135 | SCN2A | c.4335C>T (p.Asp1445=) c.*2654C>T (n.*2654C>T) c.*2322C>T (n.*2322C>T) c.*4858C>T (n.*4858C>T) c.*2277C>T (n.*2277C>T) c.3939C>T (p.Asp1313=) n.7403C>T c.4305C>T (p.Asp1435=) c.3582C>T (p.Asp1194=) c.2133C>T (p.Asp711=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.165380619A>C | CA349033724 | SCN2A | c.4336A>C (p.Asn1446His) c.*2655A>C (n.*2655A>C) c.*2323A>C (n.*2323A>C) c.*4859A>C (n.*4859A>C) c.*2278A>C (n.*2278A>C) c.3940A>C (p.Asn1314His) n.7404A>C c.4306A>C (p.Asn1436His) c.3583A>C (p.Asn1195His) c.2134A>C (p.Asn712His) | |
2 | g.165380619A>G | CA349033725 | SCN2A | c.4336A>G (p.Asn1446Asp) c.*2655A>G (n.*2655A>G) c.*2323A>G (n.*2323A>G) c.*4859A>G (n.*4859A>G) c.*2278A>G (n.*2278A>G) c.3940A>G (p.Asn1314Asp) n.7404A>G c.4306A>G (p.Asn1436Asp) c.3583A>G (p.Asn1195Asp) c.2134A>G (p.Asn712Asp) | |
2 | g.165380619A>T | CA349033726 | SCN2A | c.4336A>T (p.Asn1446Tyr) c.*2655A>T (n.*2655A>T) c.*2323A>T (n.*2323A>T) c.*4859A>T (n.*4859A>T) c.*2278A>T (n.*2278A>T) c.3940A>T (p.Asn1314Tyr) n.7404A>T c.4306A>T (p.Asn1436Tyr) c.3583A>T (p.Asn1195Tyr) c.2134A>T (p.Asn712Tyr) | |
2 | g.165380620A= | CA1304561030 | SCN2A | c.4337A= (p.Asn1446=) c.*2656A= (n.*2656A=) c.*2324A= (n.*2324A=) c.*4860A= (n.*4860A=) c.*2279A= (n.*2279A=) c.3941A= (p.Asn1314=) n.7405A= c.4307A= (p.Asn1436=) c.3584A= (p.Asn1195=) c.2135A= (p.Asn712=) | |
2 | g.165380620A>C | CA349033728 | SCN2A | c.4337A>C (p.Asn1446Thr) c.*2656A>C (n.*2656A>C) c.*2324A>C (n.*2324A>C) c.*4860A>C (n.*4860A>C) c.*2279A>C (n.*2279A>C) c.3941A>C (p.Asn1314Thr) n.7405A>C c.4307A>C (p.Asn1436Thr) c.3584A>C (p.Asn1195Thr) c.2135A>C (p.Asn712Thr) | |
2 | g.165380620A>G | CA1940268 | SCN2A | c.4337A>G (p.Asn1446Ser) c.*2656A>G (n.*2656A>G) c.*2324A>G (n.*2324A>G) c.*4860A>G (n.*4860A>G) c.*2279A>G (n.*2279A>G) c.3941A>G (p.Asn1314Ser) n.7405A>G c.4307A>G (p.Asn1436Ser) c.3584A>G (p.Asn1195Ser) c.2135A>G (p.Asn712Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.165380620A>T | CA349033729 | SCN2A | c.4337A>T (p.Asn1446Ile) c.*2656A>T (n.*2656A>T) c.*2324A>T (n.*2324A>T) c.*4860A>T (n.*4860A>T) c.*2279A>T (n.*2279A>T) c.3941A>T (p.Asn1314Ile) n.7405A>T c.4307A>T (p.Asn1436Ile) c.3584A>T (p.Asn1195Ile) c.2135A>T (p.Asn712Ile) | |
2 | g.165380621C>A | CA349033730 | SCN2A | c.4338C>A (p.Asn1446Lys) c.*2657C>A (n.*2657C>A) c.*2325C>A (n.*2325C>A) c.*4861C>A (n.*4861C>A) c.*2280C>A (n.*2280C>A) c.3942C>A (p.Asn1314Lys) n.7406C>A c.4308C>A (p.Asn1436Lys) c.3585C>A (p.Asn1195Lys) c.2136C>A (p.Asn712Lys) | gnomAD v4 |
2 | g.165380621C>G | CA349033731 | SCN2A | c.4338C>G (p.Asn1446Lys) c.*2657C>G (n.*2657C>G) c.*2325C>G (n.*2325C>G) c.*4861C>G (n.*4861C>G) c.*2280C>G (n.*2280C>G) c.3942C>G (p.Asn1314Lys) n.7406C>G c.4308C>G (p.Asn1436Lys) c.3585C>G (p.Asn1195Lys) c.2136C>G (p.Asn712Lys) | |
2 | g.165380621C>T | CA429888136 | SCN2A | c.4338C>T (p.Asn1446=) c.*2657C>T (n.*2657C>T) c.*2325C>T (n.*2325C>T) c.*4861C>T (n.*4861C>T) c.*2280C>T (n.*2280C>T) c.3942C>T (p.Asn1314=) n.7406C>T c.4308C>T (p.Asn1436=) c.3585C>T (p.Asn1195=) c.2136C>T (p.Asn712=) | |
2 | g.165380622C>A | CA349033733 | SCN2A | c.4339C>A (p.Leu1447Met) c.*2658C>A (n.*2658C>A) c.*2326C>A (n.*2326C>A) c.*4862C>A (n.*4862C>A) c.*2281C>A (n.*2281C>A) c.3943C>A (p.Leu1315Met) n.7407C>A c.4309C>A (p.Leu1437Met) c.3586C>A (p.Leu1196Met) c.2137C>A (p.Leu713Met) | |
2 | g.165380622C>G | CA349033734 | SCN2A | c.4339C>G (p.Leu1447Val) c.*2658C>G (n.*2658C>G) c.*2326C>G (n.*2326C>G) c.*4862C>G (n.*4862C>G) c.*2281C>G (n.*2281C>G) c.3943C>G (p.Leu1315Val) n.7407C>G c.4309C>G (p.Leu1437Val) c.3586C>G (p.Leu1196Val) c.2137C>G (p.Leu713Val) | |
2 | g.165380622C>T | CA429888137 | SCN2A | c.4339C>T (p.Leu1447=) c.*2658C>T (n.*2658C>T) c.*2326C>T (n.*2326C>T) c.*4862C>T (n.*4862C>T) c.*2281C>T (n.*2281C>T) c.3943C>T (p.Leu1315=) n.7407C>T c.4309C>T (p.Leu1437=) c.3586C>T (p.Leu1196=) c.2137C>T (p.Leu713=) | |
2 | g.165380623T>A | CA349033735 | SCN2A | c.4340T>A (p.Leu1447Gln) c.*2659T>A (n.*2659T>A) c.*2327T>A (n.*2327T>A) c.*4863T>A (n.*4863T>A) c.*2282T>A (n.*2282T>A) c.3944T>A (p.Leu1315Gln) n.7408T>A c.4310T>A (p.Leu1437Gln) c.3587T>A (p.Leu1196Gln) c.2138T>A (p.Leu713Gln) | |
2 | g.165380623T>C | CA349033736 | SCN2A | c.4340T>C (p.Leu1447Pro) c.*2659T>C (n.*2659T>C) c.*2327T>C (n.*2327T>C) c.*4863T>C (n.*4863T>C) c.*2282T>C (n.*2282T>C) c.3944T>C (p.Leu1315Pro) n.7408T>C c.4310T>C (p.Leu1437Pro) c.3587T>C (p.Leu1196Pro) c.2138T>C (p.Leu713Pro) | |
2 | g.165380623T>G | CA349033739 | SCN2A | c.4340T>G (p.Leu1447Arg) c.*2659T>G (n.*2659T>G) c.*2327T>G (n.*2327T>G) c.*4863T>G (n.*4863T>G) c.*2282T>G (n.*2282T>G) c.3944T>G (p.Leu1315Arg) n.7408T>G c.4310T>G (p.Leu1437Arg) c.3587T>G (p.Leu1196Arg) c.2138T>G (p.Leu713Arg) | |
2 | g.165380624G>A | CA429888139 | SCN2A | c.4341G>A (p.Leu1447=) c.*2660G>A (n.*2660G>A) c.*2328G>A (n.*2328G>A) c.*4864G>A (n.*4864G>A) c.*2283G>A (n.*2283G>A) c.3945G>A (p.Leu1315=) n.7409G>A c.4311G>A (p.Leu1437=) c.3588G>A (p.Leu1196=) c.2139G>A (p.Leu713=) | |
2 | g.165380624G>C | CA429888142 | SCN2A | c.4341G>C (p.Leu1447=) c.*2660G>C (n.*2660G>C) c.*2328G>C (n.*2328G>C) c.*4864G>C (n.*4864G>C) c.*2283G>C (n.*2283G>C) c.3945G>C (p.Leu1315=) n.7409G>C c.4311G>C (p.Leu1437=) c.3588G>C (p.Leu1196=) c.2139G>C (p.Leu713=) | |
2 | g.165380624G>T | CA429888141 | SCN2A | c.4341G>T (p.Leu1447=) c.*2660G>T (n.*2660G>T) c.*2328G>T (n.*2328G>T) c.*4864G>T (n.*4864G>T) c.*2283G>T (n.*2283G>T) c.3945G>T (p.Leu1315=) n.7409G>T c.4311G>T (p.Leu1437=) c.3588G>T (p.Leu1196=) c.2139G>T (p.Leu713=) | ClinVar dbSNP |
2 | g.165380625T>A | CA349033741 | SCN2A | c.4342T>A (p.Tyr1448Asn) c.*2661T>A (n.*2661T>A) c.*2329T>A (n.*2329T>A) c.*4865T>A (n.*4865T>A) c.*2284T>A (n.*2284T>A) c.3946T>A (p.Tyr1316Asn) n.7410T>A c.4312T>A (p.Tyr1438Asn) c.3589T>A (p.Tyr1197Asn) c.2140T>A (p.Tyr714Asn) | |
2 | g.165380625T>C | CA349033743 | SCN2A | c.4342T>C (p.Tyr1448His) c.*2661T>C (n.*2661T>C) c.*2329T>C (n.*2329T>C) c.*4865T>C (n.*4865T>C) c.*2284T>C (n.*2284T>C) c.3946T>C (p.Tyr1316His) n.7410T>C c.4312T>C (p.Tyr1438His) c.3589T>C (p.Tyr1197His) c.2140T>C (p.Tyr714His) | |
2 | g.165380625T>G | CA349033744 | SCN2A | c.4342T>G (p.Tyr1448Asp) c.*2661T>G (n.*2661T>G) c.*2329T>G (n.*2329T>G) c.*4865T>G (n.*4865T>G) c.*2284T>G (n.*2284T>G) c.3946T>G (p.Tyr1316Asp) n.7410T>G c.4312T>G (p.Tyr1438Asp) c.3589T>G (p.Tyr1197Asp) c.2140T>G (p.Tyr714Asp) | |
2 | g.165380626_165380629dup | CA915942929 | SCN2A | c.4343_4346dup (p.Met1449IlefsTer28) c.*2662_*2665dup (n.*2662_*2665dup) c.*2330_*2333dup (n.*2330_*2333dup) c.*4866_*4869dup (n.*4866_*4869dup) c.*2285_*2288dup (n.*2285_*2288dup) c.3947_3950dup (p.Met1317IlefsTer28) n.7411_7414dup c.4313_4316dup (p.Met1439IlefsTer28) c.3590_3593dup (p.Met1198IlefsTer28) c.2141_2144dup (p.Met715IlefsTer28) | ClinVar |
2 | g.165380626A= | CA1304561031 | SCN2A | c.4343A= (p.Tyr1448=) c.*2662A= (n.*2662A=) c.*2330A= (n.*2330A=) c.*4866A= (n.*4866A=) c.*2285A= (n.*2285A=) c.3947A= (p.Tyr1316=) n.7411A= c.4313A= (p.Tyr1438=) c.3590A= (p.Tyr1197=) c.2141A= (p.Tyr714=) | |
2 | g.165380626A>C | CA349033750 | SCN2A | c.4343A>C (p.Tyr1448Ser) c.*2662A>C (n.*2662A>C) c.*2330A>C (n.*2330A>C) c.*4866A>C (n.*4866A>C) c.*2285A>C (n.*2285A>C) c.3947A>C (p.Tyr1316Ser) n.7411A>C c.4313A>C (p.Tyr1438Ser) c.3590A>C (p.Tyr1197Ser) c.2141A>C (p.Tyr714Ser) | |
2 | g.165380626A>G | CA349033749 | SCN2A | c.4343A>G (p.Tyr1448Cys) c.*2662A>G (n.*2662A>G) c.*2330A>G (n.*2330A>G) c.*4866A>G (n.*4866A>G) c.*2285A>G (n.*2285A>G) c.3947A>G (p.Tyr1316Cys) n.7411A>G c.4313A>G (p.Tyr1438Cys) c.3590A>G (p.Tyr1197Cys) c.2141A>G (p.Tyr714Cys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.165380626A>T | CA349033746 | SCN2A | c.4343A>T (p.Tyr1448Phe) c.*2662A>T (n.*2662A>T) c.*2330A>T (n.*2330A>T) c.*4866A>T (n.*4866A>T) c.*2285A>T (n.*2285A>T) c.3947A>T (p.Tyr1316Phe) n.7411A>T c.4313A>T (p.Tyr1438Phe) c.3590A>T (p.Tyr1197Phe) c.2141A>T (p.Tyr714Phe) | |
2 | g.165380627C>A | CA349033756 | SCN2A | c.4344C>A (p.Tyr1448Ter) c.*2663C>A (n.*2663C>A) c.*2331C>A (n.*2331C>A) c.*4867C>A (n.*4867C>A) c.*2286C>A (n.*2286C>A) c.3948C>A (p.Tyr1316Ter) n.7412C>A c.4314C>A (p.Tyr1438Ter) c.3591C>A (p.Tyr1197Ter) c.2142C>A (p.Tyr714Ter) | gnomAD v4 |
2 | g.165380627C= | CA1304561032 | SCN2A | c.4344C= (p.Tyr1448=) c.*2663C= (n.*2663C=) c.*2331C= (n.*2331C=) c.*4867C= (n.*4867C=) c.*2286C= (n.*2286C=) c.3948C= (p.Tyr1316=) n.7412C= c.4314C= (p.Tyr1438=) c.3591C= (p.Tyr1197=) c.2142C= (p.Tyr714=) | |
2 | g.165380627C>G | CA349033753 | SCN2A | c.4344C>G (p.Tyr1448Ter) c.*2663C>G (n.*2663C>G) c.*2331C>G (n.*2331C>G) c.*4867C>G (n.*4867C>G) c.*2286C>G (n.*2286C>G) c.3948C>G (p.Tyr1316Ter) n.7412C>G c.4314C>G (p.Tyr1438Ter) c.3591C>G (p.Tyr1197Ter) c.2142C>G (p.Tyr714Ter) | |
2 | g.165380627C>T | CA429888146 | SCN2A | c.4344C>T (p.Tyr1448=) c.*2663C>T (n.*2663C>T) c.*2331C>T (n.*2331C>T) c.*4867C>T (n.*4867C>T) c.*2286C>T (n.*2286C>T) c.3948C>T (p.Tyr1316=) n.7412C>T c.4314C>T (p.Tyr1438=) c.3591C>T (p.Tyr1197=) c.2142C>T (p.Tyr714=) | dbSNP gnomAD v4 |
2 | g.165380628A= | CA1304561033 | SCN2A | c.4345A= (p.Met1449=) c.*2664A= (n.*2664A=) c.*2332A= (n.*2332A=) c.*4868A= (n.*4868A=) c.*2287A= (n.*2287A=) c.3949A= (p.Met1317=) n.7413A= c.4315A= (p.Met1439=) c.3592A= (p.Met1198=) c.2143A= (p.Met715=) | |
2 | g.165380628A>C | CA349033762 | SCN2A | c.4345A>C (p.Met1449Leu) c.*2664A>C (n.*2664A>C) c.*2332A>C (n.*2332A>C) c.*4868A>C (n.*4868A>C) c.*2287A>C (n.*2287A>C) c.3949A>C (p.Met1317Leu) n.7413A>C c.4315A>C (p.Met1439Leu) c.3592A>C (p.Met1198Leu) c.2143A>C (p.Met715Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.165380628A>G | CA349033759 | SCN2A | c.4345A>G (p.Met1449Val) c.*2664A>G (n.*2664A>G) c.*2332A>G (n.*2332A>G) c.*4868A>G (n.*4868A>G) c.*2287A>G (n.*2287A>G) c.3949A>G (p.Met1317Val) n.7413A>G c.4315A>G (p.Met1439Val) c.3592A>G (p.Met1198Val) c.2143A>G (p.Met715Val) | gnomAD v4 |
2 | g.165380628A>T | CA349033760 | SCN2A | c.4345A>T (p.Met1449Leu) c.*2664A>T (n.*2664A>T) c.*2332A>T (n.*2332A>T) c.*4868A>T (n.*4868A>T) c.*2287A>T (n.*2287A>T) c.3949A>T (p.Met1317Leu) n.7413A>T c.4315A>T (p.Met1439Leu) c.3592A>T (p.Met1198Leu) c.2143A>T (p.Met715Leu) | |
2 | g.165380629T>A | CA349033764 | SCN2A | c.4346T>A (p.Met1449Lys) c.*2665T>A (n.*2665T>A) c.*2333T>A (n.*2333T>A) c.*4869T>A (n.*4869T>A) c.*2288T>A (n.*2288T>A) c.3950T>A (p.Met1317Lys) n.7414T>A c.4316T>A (p.Met1439Lys) c.3593T>A (p.Met1198Lys) c.2144T>A (p.Met715Lys) | |
2 | g.165380629T>C | CA349033766 | SCN2A | c.4346T>C (p.Met1449Thr) c.*2665T>C (n.*2665T>C) c.*2333T>C (n.*2333T>C) c.*4869T>C (n.*4869T>C) c.*2288T>C (n.*2288T>C) c.3950T>C (p.Met1317Thr) n.7414T>C c.4316T>C (p.Met1439Thr) c.3593T>C (p.Met1198Thr) c.2144T>C (p.Met715Thr) | |
2 | g.165380629T>G | CA349033769 | SCN2A | c.4346T>G (p.Met1449Arg) c.*2665T>G (n.*2665T>G) c.*2333T>G (n.*2333T>G) c.*4869T>G (n.*4869T>G) c.*2288T>G (n.*2288T>G) c.3950T>G (p.Met1317Arg) n.7414T>G c.4316T>G (p.Met1439Arg) c.3593T>G (p.Met1198Arg) c.2144T>G (p.Met715Arg) | |
2 | g.165380630G>A | CA349033771 | SCN2A | c.4347G>A (p.Met1449Ile) c.*2666G>A (n.*2666G>A) c.*2334G>A (n.*2334G>A) c.*4870G>A (n.*4870G>A) c.*2289G>A (n.*2289G>A) c.3951G>A (p.Met1317Ile) n.7415G>A c.4317G>A (p.Met1439Ile) c.3594G>A (p.Met1198Ile) c.2145G>A (p.Met715Ile) | |
2 | g.165380630G>C | CA349033773 | SCN2A | c.4347G>C (p.Met1449Ile) c.*2666G>C (n.*2666G>C) c.*2334G>C (n.*2334G>C) c.*4870G>C (n.*4870G>C) c.*2289G>C (n.*2289G>C) c.3951G>C (p.Met1317Ile) n.7415G>C c.4317G>C (p.Met1439Ile) c.3594G>C (p.Met1198Ile) c.2145G>C (p.Met715Ile) | |
2 | g.165380630G>T | CA349033775 | SCN2A | c.4347G>T (p.Met1449Ile) c.*2666G>T (n.*2666G>T) c.*2334G>T (n.*2334G>T) c.*4870G>T (n.*4870G>T) c.*2289G>T (n.*2289G>T) c.3951G>T (p.Met1317Ile) n.7415G>T c.4317G>T (p.Met1439Ile) c.3594G>T (p.Met1198Ile) c.2145G>T (p.Met715Ile) | COSMIC COSMIC |
2 | g.165380631T>A | CA349033778 | SCN2A | c.4348T>A (p.Tyr1450Asn) c.*2667T>A (n.*2667T>A) c.*2335T>A (n.*2335T>A) c.*4871T>A (n.*4871T>A) c.*2290T>A (n.*2290T>A) c.3952T>A (p.Tyr1318Asn) n.7416T>A c.4318T>A (p.Tyr1440Asn) c.3595T>A (p.Tyr1199Asn) c.2146T>A (p.Tyr716Asn) | |
2 | g.165380631T>C | CA349033781 | SCN2A | c.4348T>C (p.Tyr1450His) c.*2667T>C (n.*2667T>C) c.*2335T>C (n.*2335T>C) c.*4871T>C (n.*4871T>C) c.*2290T>C (n.*2290T>C) c.3952T>C (p.Tyr1318His) n.7416T>C c.4318T>C (p.Tyr1440His) c.3595T>C (p.Tyr1199His) c.2146T>C (p.Tyr716His) | |
2 | g.165380631T>G | CA349033784 | SCN2A | c.4348T>G (p.Tyr1450Asp) c.*2667T>G (n.*2667T>G) c.*2335T>G (n.*2335T>G) c.*4871T>G (n.*4871T>G) c.*2290T>G (n.*2290T>G) c.3952T>G (p.Tyr1318Asp) n.7416T>G c.4318T>G (p.Tyr1440Asp) c.3595T>G (p.Tyr1199Asp) c.2146T>G (p.Tyr716Asp) | |
2 | g.165380632A= | CA1304561034 | SCN2A | c.4349A= (p.Tyr1450=) c.*2668A= (n.*2668A=) c.*2336A= (n.*2336A=) c.*4872A= (n.*4872A=) c.*2291A= (n.*2291A=) c.3953A= (p.Tyr1318=) n.7417A= c.4319A= (p.Tyr1440=) c.3596A= (p.Tyr1199=) c.2147A= (p.Tyr716=) | |
2 | g.165380632A>C | CA349033790 | SCN2A | c.4349A>C (p.Tyr1450Ser) c.*2668A>C (n.*2668A>C) c.*2336A>C (n.*2336A>C) c.*4872A>C (n.*4872A>C) c.*2291A>C (n.*2291A>C) c.3953A>C (p.Tyr1318Ser) n.7417A>C c.4319A>C (p.Tyr1440Ser) c.3596A>C (p.Tyr1199Ser) c.2147A>C (p.Tyr716Ser) | |
2 | g.165380632A>G | CA349033788 | SCN2A | c.4349A>G (p.Tyr1450Cys) c.*2668A>G (n.*2668A>G) c.*2336A>G (n.*2336A>G) c.*4872A>G (n.*4872A>G) c.*2291A>G (n.*2291A>G) c.3953A>G (p.Tyr1318Cys) n.7417A>G c.4319A>G (p.Tyr1440Cys) c.3596A>G (p.Tyr1199Cys) c.2147A>G (p.Tyr716Cys) | ClinVar dbSNP |
2 | g.165380632A>T | CA349033786 | SCN2A | c.4349A>T (p.Tyr1450Phe) c.*2668A>T (n.*2668A>T) c.*2336A>T (n.*2336A>T) c.*4872A>T (n.*4872A>T) c.*2291A>T (n.*2291A>T) c.3953A>T (p.Tyr1318Phe) n.7417A>T c.4319A>T (p.Tyr1440Phe) c.3596A>T (p.Tyr1199Phe) c.2147A>T (p.Tyr716Phe) | |
2 | g.165380633T>A | CA349033792 | SCN2A | c.4350T>A (p.Tyr1450Ter) c.*2669T>A (n.*2669T>A) c.*2337T>A (n.*2337T>A) c.*4873T>A (n.*4873T>A) c.*2292T>A (n.*2292T>A) c.3954T>A (p.Tyr1318Ter) n.7418T>A c.4320T>A (p.Tyr1440Ter) c.3597T>A (p.Tyr1199Ter) c.2148T>A (p.Tyr716Ter) | |
2 | g.165380633T>C | CA429888147 | SCN2A | c.4350T>C (p.Tyr1450=) c.*2669T>C (n.*2669T>C) c.*2337T>C (n.*2337T>C) c.*4873T>C (n.*4873T>C) c.*2292T>C (n.*2292T>C) c.3954T>C (p.Tyr1318=) n.7418T>C c.4320T>C (p.Tyr1440=) c.3597T>C (p.Tyr1199=) c.2148T>C (p.Tyr716=) | |
2 | g.165380633T>G | CA349033794 | SCN2A | c.4350T>G (p.Tyr1450Ter) c.*2669T>G (n.*2669T>G) c.*2337T>G (n.*2337T>G) c.*4873T>G (n.*4873T>G) c.*2292T>G (n.*2292T>G) c.3954T>G (p.Tyr1318Ter) n.7418T>G c.4320T>G (p.Tyr1440Ter) c.3597T>G (p.Tyr1199Ter) c.2148T>G (p.Tyr716Ter) | ClinVar dbSNP |
2 | g.165380633T= | CA1304561035 | SCN2A | c.4350T= (p.Tyr1450=) c.*2669T= (n.*2669T=) c.*2337T= (n.*2337T=) c.*4873T= (n.*4873T=) c.*2292T= (n.*2292T=) c.3954T= (p.Tyr1318=) n.7418T= c.4320T= (p.Tyr1440=) c.3597T= (p.Tyr1199=) c.2148T= (p.Tyr716=) | |
2 | g.165380634C>A | CA349033796 | SCN2A | c.4351C>A (p.Leu1451Ile) c.*2670C>A (n.*2670C>A) c.*2338C>A (n.*2338C>A) c.*4874C>A (n.*4874C>A) c.*2293C>A (n.*2293C>A) c.3955C>A (p.Leu1319Ile) n.7419C>A c.4321C>A (p.Leu1441Ile) c.3598C>A (p.Leu1200Ile) c.2149C>A (p.Leu717Ile) | |
2 | g.165380634C>G | CA349033799 | SCN2A | c.4351C>G (p.Leu1451Val) c.*2670C>G (n.*2670C>G) c.*2338C>G (n.*2338C>G) c.*4874C>G (n.*4874C>G) c.*2293C>G (n.*2293C>G) c.3955C>G (p.Leu1319Val) n.7419C>G c.4321C>G (p.Leu1441Val) c.3598C>G (p.Leu1200Val) c.2149C>G (p.Leu717Val) | |
2 | g.165380634C>T | CA349033800 | SCN2A | c.4351C>T (p.Leu1451Phe) c.*2670C>T (n.*2670C>T) c.*2338C>T (n.*2338C>T) c.*4874C>T (n.*4874C>T) c.*2293C>T (n.*2293C>T) c.3955C>T (p.Leu1319Phe) n.7419C>T c.4321C>T (p.Leu1441Phe) c.3598C>T (p.Leu1200Phe) c.2149C>T (p.Leu717Phe) | |
2 | g.165380635T>A | CA349033803 | SCN2A | c.4352T>A (p.Leu1451His) c.*2671T>A (n.*2671T>A) c.*2339T>A (n.*2339T>A) c.*4875T>A (n.*4875T>A) c.*2294T>A (n.*2294T>A) c.3956T>A (p.Leu1319His) n.7420T>A c.4322T>A (p.Leu1441His) c.3599T>A (p.Leu1200His) c.2150T>A (p.Leu717His) | |
2 | g.165380635T>C | CA349033804 | SCN2A | c.4352T>C (p.Leu1451Pro) c.*2671T>C (n.*2671T>C) c.*2339T>C (n.*2339T>C) c.*4875T>C (n.*4875T>C) c.*2294T>C (n.*2294T>C) c.3956T>C (p.Leu1319Pro) n.7420T>C c.4322T>C (p.Leu1441Pro) c.3599T>C (p.Leu1200Pro) c.2150T>C (p.Leu717Pro) | |
2 | g.165380635T>G | CA349033806 | SCN2A | c.4352T>G (p.Leu1451Arg) c.*2671T>G (n.*2671T>G) c.*2339T>G (n.*2339T>G) c.*4875T>G (n.*4875T>G) c.*2294T>G (n.*2294T>G) c.3956T>G (p.Leu1319Arg) n.7420T>G c.4322T>G (p.Leu1441Arg) c.3599T>G (p.Leu1200Arg) c.2150T>G (p.Leu717Arg) | |
2 | g.165380636T>A | CA429888149 | SCN2A | c.4353T>A (p.Leu1451=) c.*2672T>A (n.*2672T>A) c.*2340T>A (n.*2340T>A) c.*4876T>A (n.*4876T>A) c.*2295T>A (n.*2295T>A) c.3957T>A (p.Leu1319=) n.7421T>A c.4323T>A (p.Leu1441=) c.3600T>A (p.Leu1200=) c.2151T>A (p.Leu717=) | |
2 | g.165380636T>C | CA429888150 | SCN2A | c.4353T>C (p.Leu1451=) c.*2672T>C (n.*2672T>C) c.*2340T>C (n.*2340T>C) c.*4876T>C (n.*4876T>C) c.*2295T>C (n.*2295T>C) c.3957T>C (p.Leu1319=) n.7421T>C c.4323T>C (p.Leu1441=) c.3600T>C (p.Leu1200=) c.2151T>C (p.Leu717=) | |
2 | g.165380636T>G | CA429888151 | SCN2A | c.4353T>G (p.Leu1451=) c.*2672T>G (n.*2672T>G) c.*2340T>G (n.*2340T>G) c.*4876T>G (n.*4876T>G) c.*2295T>G (n.*2295T>G) c.3957T>G (p.Leu1319=) n.7421T>G c.4323T>G (p.Leu1441=) c.3600T>G (p.Leu1200=) c.2151T>G (p.Leu717=) | ClinVar dbSNP gnomAD v4 |
2 | g.165380637T>A | CA349033808 | SCN2A | c.4354T>A (p.Tyr1452Asn) c.*2673T>A (n.*2673T>A) c.*2341T>A (n.*2341T>A) c.*4877T>A (n.*4877T>A) c.*2296T>A (n.*2296T>A) c.3958T>A (p.Tyr1320Asn) n.7422T>A c.4324T>A (p.Tyr1442Asn) c.3601T>A (p.Tyr1201Asn) c.2152T>A (p.Tyr718Asn) | |
2 | g.165380637T>C | CA349033809 | SCN2A | c.4354T>C (p.Tyr1452His) c.*2673T>C (n.*2673T>C) c.*2341T>C (n.*2341T>C) c.*4877T>C (n.*4877T>C) c.*2296T>C (n.*2296T>C) c.3958T>C (p.Tyr1320His) n.7422T>C c.4324T>C (p.Tyr1442His) c.3601T>C (p.Tyr1201His) c.2152T>C (p.Tyr718His) | |
2 | g.165380637T>G | CA349033810 | SCN2A | c.4354T>G (p.Tyr1452Asp) c.*2673T>G (n.*2673T>G) c.*2341T>G (n.*2341T>G) c.*4877T>G (n.*4877T>G) c.*2296T>G (n.*2296T>G) c.3958T>G (p.Tyr1320Asp) n.7422T>G c.4324T>G (p.Tyr1442Asp) c.3601T>G (p.Tyr1201Asp) c.2152T>G (p.Tyr718Asp) | |
2 | g.165380638A>C | CA349033817 | SCN2A | c.4355A>C (p.Tyr1452Ser) c.*2674A>C (n.*2674A>C) c.*2342A>C (n.*2342A>C) c.*4878A>C (n.*4878A>C) c.*2297A>C (n.*2297A>C) c.3959A>C (p.Tyr1320Ser) n.7423A>C c.4325A>C (p.Tyr1442Ser) c.3602A>C (p.Tyr1201Ser) c.2153A>C (p.Tyr718Ser) | |
2 | g.165380638A>G | CA349033814 | SCN2A | c.4355A>G (p.Tyr1452Cys) c.*2674A>G (n.*2674A>G) c.*2342A>G (n.*2342A>G) c.*4878A>G (n.*4878A>G) c.*2297A>G (n.*2297A>G) c.3959A>G (p.Tyr1320Cys) n.7423A>G c.4325A>G (p.Tyr1442Cys) c.3602A>G (p.Tyr1201Cys) c.2153A>G (p.Tyr718Cys) | |
2 | g.165380638A>T | CA349033811 | SCN2A | c.4355A>T (p.Tyr1452Phe) c.*2674A>T (n.*2674A>T) c.*2342A>T (n.*2342A>T) c.*4878A>T (n.*4878A>T) c.*2297A>T (n.*2297A>T) c.3959A>T (p.Tyr1320Phe) n.7423A>T c.4325A>T (p.Tyr1442Phe) c.3602A>T (p.Tyr1201Phe) c.2153A>T (p.Tyr718Phe) | |
2 | g.165380639T>A | CA349033818 | SCN2A | c.4356T>A (p.Tyr1452Ter) c.*2675T>A (n.*2675T>A) c.*2343T>A (n.*2343T>A) c.*4879T>A (n.*4879T>A) c.*2298T>A (n.*2298T>A) c.3960T>A (p.Tyr1320Ter) n.7424T>A c.4326T>A (p.Tyr1442Ter) c.3603T>A (p.Tyr1201Ter) c.2154T>A (p.Tyr718Ter) | |
2 | g.165380639T>C | CA429888153 | SCN2A | c.4356T>C (p.Tyr1452=) c.*2675T>C (n.*2675T>C) c.*2343T>C (n.*2343T>C) c.*4879T>C (n.*4879T>C) c.*2298T>C (n.*2298T>C) c.3960T>C (p.Tyr1320=) n.7424T>C c.4326T>C (p.Tyr1442=) c.3603T>C (p.Tyr1201=) c.2154T>C (p.Tyr718=) | |
2 | g.165380639T>G | CA349033820 | SCN2A | c.4356T>G (p.Tyr1452Ter) c.*2675T>G (n.*2675T>G) c.*2343T>G (n.*2343T>G) c.*4879T>G (n.*4879T>G) c.*2298T>G (n.*2298T>G) c.3960T>G (p.Tyr1320Ter) n.7424T>G c.4326T>G (p.Tyr1442Ter) c.3603T>G (p.Tyr1201Ter) c.2154T>G (p.Tyr718Ter) | |
2 | g.165380640T>A | CA349033823 | SCN2A | c.4357T>A (p.Phe1453Ile) c.*2676T>A (n.*2676T>A) c.*2344T>A (n.*2344T>A) c.*4880T>A (n.*4880T>A) c.*2299T>A (n.*2299T>A) c.3961T>A (p.Phe1321Ile) n.7425T>A c.4327T>A (p.Phe1443Ile) c.3604T>A (p.Phe1202Ile) c.2155T>A (p.Phe719Ile) | |
2 | g.165380640T>C | CA349033829 | SCN2A | c.4357T>C (p.Phe1453Leu) c.*2676T>C (n.*2676T>C) c.*2344T>C (n.*2344T>C) c.*4880T>C (n.*4880T>C) c.*2299T>C (n.*2299T>C) c.3961T>C (p.Phe1321Leu) n.7425T>C c.4327T>C (p.Phe1443Leu) c.3604T>C (p.Phe1202Leu) c.2155T>C (p.Phe719Leu) | |
2 | g.165380640T>G | CA349033831 | SCN2A | c.4357T>G (p.Phe1453Val) c.*2676T>G (n.*2676T>G) c.*2344T>G (n.*2344T>G) c.*4880T>G (n.*4880T>G) c.*2299T>G (n.*2299T>G) c.3961T>G (p.Phe1321Val) n.7425T>G c.4327T>G (p.Phe1443Val) c.3604T>G (p.Phe1202Val) c.2155T>G (p.Phe719Val) | |
2 | g.165380641T>A | CA349033835 | SCN2A | c.4358T>A (p.Phe1453Tyr) c.*2677T>A (n.*2677T>A) c.*2345T>A (n.*2345T>A) c.*4881T>A (n.*4881T>A) c.*2300T>A (n.*2300T>A) c.3962T>A (p.Phe1321Tyr) n.7426T>A c.4328T>A (p.Phe1443Tyr) c.3605T>A (p.Phe1202Tyr) c.2156T>A (p.Phe719Tyr) | |
2 | g.165380641T>C | CA349033837 | SCN2A | c.4358T>C (p.Phe1453Ser) c.*2677T>C (n.*2677T>C) c.*2345T>C (n.*2345T>C) c.*4881T>C (n.*4881T>C) c.*2300T>C (n.*2300T>C) c.3962T>C (p.Phe1321Ser) n.7426T>C c.4328T>C (p.Phe1443Ser) c.3605T>C (p.Phe1202Ser) c.2156T>C (p.Phe719Ser) | |
2 | g.165380641T>G | CA349033840 | SCN2A | c.4358T>G (p.Phe1453Cys) c.*2677T>G (n.*2677T>G) c.*2345T>G (n.*2345T>G) c.*4881T>G (n.*4881T>G) c.*2300T>G (n.*2300T>G) c.3962T>G (p.Phe1321Cys) n.7426T>G c.4328T>G (p.Phe1443Cys) c.3605T>G (p.Phe1202Cys) c.2156T>G (p.Phe719Cys) | |
2 | g.165380642T>A | CA349033842 | SCN2A | c.4359T>A (p.Phe1453Leu) c.*2678T>A (n.*2678T>A) c.*2346T>A (n.*2346T>A) c.*4882T>A (n.*4882T>A) c.*2301T>A (n.*2301T>A) c.3963T>A (p.Phe1321Leu) n.7427T>A c.4329T>A (p.Phe1443Leu) c.3606T>A (p.Phe1202Leu) c.2157T>A (p.Phe719Leu) | |
2 | g.165380642T>C | CA429888155 | SCN2A | c.4359T>C (p.Phe1453=) c.*2678T>C (n.*2678T>C) c.*2346T>C (n.*2346T>C) c.*4882T>C (n.*4882T>C) c.*2301T>C (n.*2301T>C) c.3963T>C (p.Phe1321=) n.7427T>C c.4329T>C (p.Phe1443=) c.3606T>C (p.Phe1202=) c.2157T>C (p.Phe719=) | |
2 | g.165380642T>G | CA349033843 | SCN2A | c.4359T>G (p.Phe1453Leu) c.*2678T>G (n.*2678T>G) c.*2346T>G (n.*2346T>G) c.*4882T>G (n.*4882T>G) c.*2301T>G (n.*2301T>G) c.3963T>G (p.Phe1321Leu) n.7427T>G c.4329T>G (p.Phe1443Leu) c.3606T>G (p.Phe1202Leu) c.2157T>G (p.Phe719Leu) | |
2 | g.165380643G>A | CA349033845 | SCN2A | c.4360G>A (p.Val1454Ile) c.*2679G>A (n.*2679G>A) c.*2347G>A (n.*2347G>A) c.*4883G>A (n.*4883G>A) c.*2302G>A (n.*2302G>A) c.3964G>A (p.Val1322Ile) n.7428G>A c.4330G>A (p.Val1444Ile) c.3607G>A (p.Val1203Ile) c.2158G>A (p.Val720Ile) | |
2 | g.165380643G>C | CA349033847 | SCN2A | c.4360G>C (p.Val1454Leu) c.*2679G>C (n.*2679G>C) c.*2347G>C (n.*2347G>C) c.*4883G>C (n.*4883G>C) c.*2302G>C (n.*2302G>C) c.3964G>C (p.Val1322Leu) n.7428G>C c.4330G>C (p.Val1444Leu) c.3607G>C (p.Val1203Leu) c.2158G>C (p.Val720Leu) | |
2 | g.165380643G>T | CA349033853 | SCN2A | c.4360G>T (p.Val1454Phe) c.*2679G>T (n.*2679G>T) c.*2347G>T (n.*2347G>T) c.*4883G>T (n.*4883G>T) c.*2302G>T (n.*2302G>T) c.3964G>T (p.Val1322Phe) n.7428G>T c.4330G>T (p.Val1444Phe) c.3607G>T (p.Val1203Phe) c.2158G>T (p.Val720Phe) | |
2 | g.165380644T>A | CA349033855 | SCN2A | c.4361T>A (p.Val1454Asp) c.*2680T>A (n.*2680T>A) c.*2348T>A (n.*2348T>A) c.*4884T>A (n.*4884T>A) c.*2303T>A (n.*2303T>A) c.3965T>A (p.Val1322Asp) n.7429T>A c.4331T>A (p.Val1444Asp) c.3608T>A (p.Val1203Asp) c.2159T>A (p.Val720Asp) | |
2 | g.165380644T>C | CA349033857 | SCN2A | c.4361T>C (p.Val1454Ala) c.*2680T>C (n.*2680T>C) c.*2348T>C (n.*2348T>C) c.*4884T>C (n.*4884T>C) c.*2303T>C (n.*2303T>C) c.3965T>C (p.Val1322Ala) n.7429T>C c.4331T>C (p.Val1444Ala) c.3608T>C (p.Val1203Ala) c.2159T>C (p.Val720Ala) | gnomAD v4 |
2 | g.165380644T>G | CA349033856 | SCN2A | c.4361T>G (p.Val1454Gly) c.*2680T>G (n.*2680T>G) c.*2348T>G (n.*2348T>G) c.*4884T>G (n.*4884T>G) c.*2303T>G (n.*2303T>G) c.3965T>G (p.Val1322Gly) n.7429T>G c.4331T>G (p.Val1444Gly) c.3608T>G (p.Val1203Gly) c.2159T>G (p.Val720Gly) | |
2 | g.165380645C>A | CA429888156 | SCN2A | c.4362C>A (p.Val1454=) c.*2681C>A (n.*2681C>A) c.*2349C>A (n.*2349C>A) c.*4885C>A (n.*4885C>A) c.*2304C>A (n.*2304C>A) c.3966C>A (p.Val1322=) n.7430C>A c.4332C>A (p.Val1444=) c.3609C>A (p.Val1203=) c.2160C>A (p.Val720=) | gnomAD v4 |
2 | g.165380645C>G | CA429888158 | SCN2A | c.4362C>G (p.Val1454=) c.*2681C>G (n.*2681C>G) c.*2349C>G (n.*2349C>G) c.*4885C>G (n.*4885C>G) c.*2304C>G (n.*2304C>G) c.3966C>G (p.Val1322=) n.7430C>G c.4332C>G (p.Val1444=) c.3609C>G (p.Val1203=) c.2160C>G (p.Val720=) | |
2 | g.165380645C>T | CA429888157 | SCN2A | c.4362C>T (p.Val1454=) c.*2681C>T (n.*2681C>T) c.*2349C>T (n.*2349C>T) c.*4885C>T (n.*4885C>T) c.*2304C>T (n.*2304C>T) c.3966C>T (p.Val1322=) n.7430C>T c.4332C>T (p.Val1444=) c.3609C>T (p.Val1203=) c.2160C>T (p.Val720=) | COSMIC COSMIC |
2 | g.165380646A>C | CA349033858 | SCN2A | c.4363A>C (p.Ile1455Leu) c.*2682A>C (n.*2682A>C) c.*2350A>C (n.*2350A>C) c.*4886A>C (n.*4886A>C) c.*2305A>C (n.*2305A>C) c.3967A>C (p.Ile1323Leu) n.7431A>C c.4333A>C (p.Ile1445Leu) c.3610A>C (p.Ile1204Leu) c.2161A>C (p.Ile721Leu) | gnomAD v4 |
2 | g.165380646A>G | CA349033859 | SCN2A | c.4363A>G (p.Ile1455Val) c.*2682A>G (n.*2682A>G) c.*2350A>G (n.*2350A>G) c.*4886A>G (n.*4886A>G) c.*2305A>G (n.*2305A>G) c.3967A>G (p.Ile1323Val) n.7431A>G c.4333A>G (p.Ile1445Val) c.3610A>G (p.Ile1204Val) c.2161A>G (p.Ile721Val) | ClinVar |
2 | g.165380646A>T | CA349033860 | SCN2A | c.4363A>T (p.Ile1455Phe) c.*2682A>T (n.*2682A>T) c.*2350A>T (n.*2350A>T) c.*4886A>T (n.*4886A>T) c.*2305A>T (n.*2305A>T) c.3967A>T (p.Ile1323Phe) n.7431A>T c.4333A>T (p.Ile1445Phe) c.3610A>T (p.Ile1204Phe) c.2161A>T (p.Ile721Phe) | ClinVar dbSNP |
2 | g.165380647T>A | CA349033861 | SCN2A | c.4364T>A (p.Ile1455Asn) c.*2683T>A (n.*2683T>A) c.*2351T>A (n.*2351T>A) c.*4887T>A (n.*4887T>A) c.*2306T>A (n.*2306T>A) c.3968T>A (p.Ile1323Asn) n.7432T>A c.4334T>A (p.Ile1445Asn) c.3611T>A (p.Ile1204Asn) c.2162T>A (p.Ile721Asn) | ClinVar dbSNP |
2 | g.165380647T>C | CA349033862 | SCN2A | c.4364T>C (p.Ile1455Thr) c.*2683T>C (n.*2683T>C) c.*2351T>C (n.*2351T>C) c.*4887T>C (n.*4887T>C) c.*2306T>C (n.*2306T>C) c.3968T>C (p.Ile1323Thr) n.7432T>C c.4334T>C (p.Ile1445Thr) c.3611T>C (p.Ile1204Thr) c.2162T>C (p.Ile721Thr) | |
2 | g.165380647T>G | CA349033864 | SCN2A | c.4364T>G (p.Ile1455Ser) c.*2683T>G (n.*2683T>G) c.*2351T>G (n.*2351T>G) c.*4887T>G (n.*4887T>G) c.*2306T>G (n.*2306T>G) c.3968T>G (p.Ile1323Ser) n.7432T>G c.4334T>G (p.Ile1445Ser) c.3611T>G (p.Ile1204Ser) c.2162T>G (p.Ile721Ser) | |
2 | g.165380648C>A | CA429888159 | SCN2A | c.4365C>A (p.Ile1455=) c.*2684C>A (n.*2684C>A) c.*2352C>A (n.*2352C>A) c.*4888C>A (n.*4888C>A) c.*2307C>A (n.*2307C>A) c.3969C>A (p.Ile1323=) n.7433C>A c.4335C>A (p.Ile1445=) c.3612C>A (p.Ile1204=) c.2163C>A (p.Ile721=) | |
2 | g.165380648C= | CA1304561036 | SCN2A | c.4365C= (p.Ile1455=) c.*2684C= (n.*2684C=) c.*2352C= (n.*2352C=) c.*4888C= (n.*4888C=) c.*2307C= (n.*2307C=) c.3969C= (p.Ile1323=) n.7433C= c.4335C= (p.Ile1445=) c.3612C= (p.Ile1204=) c.2163C= (p.Ile721=) | |
2 | g.165380648C>G | CA349033865 | SCN2A | c.4365C>G (p.Ile1455Met) c.*2684C>G (n.*2684C>G) c.*2352C>G (n.*2352C>G) c.*4888C>G (n.*4888C>G) c.*2307C>G (n.*2307C>G) c.3969C>G (p.Ile1323Met) n.7433C>G c.4335C>G (p.Ile1445Met) c.3612C>G (p.Ile1204Met) c.2163C>G (p.Ile721Met) | |
2 | g.165380648C>T | CA1940269 | SCN2A | c.4365C>T (p.Ile1455=) c.*2684C>T (n.*2684C>T) c.*2352C>T (n.*2352C>T) c.*4888C>T (n.*4888C>T) c.*2307C>T (n.*2307C>T) c.3969C>T (p.Ile1323=) n.7433C>T c.4335C>T (p.Ile1445=) c.3612C>T (p.Ile1204=) c.2163C>T (p.Ile721=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.165380649T>A | CA349033868 | SCN2A | c.4366T>A (p.Phe1456Ile) c.*2685T>A (n.*2685T>A) c.*2353T>A (n.*2353T>A) c.*4889T>A (n.*4889T>A) c.*2308T>A (n.*2308T>A) c.3970T>A (p.Phe1324Ile) n.7434T>A c.4336T>A (p.Phe1446Ile) c.3613T>A (p.Phe1205Ile) c.2164T>A (p.Phe722Ile) | |
2 | g.165380649T>C | CA349033874 | SCN2A | c.4366T>C (p.Phe1456Leu) c.*2685T>C (n.*2685T>C) c.*2353T>C (n.*2353T>C) c.*4889T>C (n.*4889T>C) c.*2308T>C (n.*2308T>C) c.3970T>C (p.Phe1324Leu) n.7434T>C c.4336T>C (p.Phe1446Leu) c.3613T>C (p.Phe1205Leu) c.2164T>C (p.Phe722Leu) | |
2 | g.165380649T>G | CA349033877 | SCN2A | c.4366T>G (p.Phe1456Val) c.*2685T>G (n.*2685T>G) c.*2353T>G (n.*2353T>G) c.*4889T>G (n.*4889T>G) c.*2308T>G (n.*2308T>G) c.3970T>G (p.Phe1324Val) n.7434T>G c.4336T>G (p.Phe1446Val) c.3613T>G (p.Phe1205Val) c.2164T>G (p.Phe722Val) | ClinVar |
2 | g.165380649_165380652delinsTTTA | CA1304561037 | SCN2A | c.4366_4369delinsTTTA (p.Phe1456=) c.*2685_*2688delinsTTTA (n.*2685_*2688delinsTTTA) c.*2353_*2356delinsTTTA (n.*2353_*2356delinsTTTA) c.*4889_*4892delinsTTTA (n.*4889_*4892delinsTTTA) c.*2308_*2311delinsTTTA (n.*2308_*2311delinsTTTA) c.3970_3973delinsTTTA (p.Phe1324=) n.7434_7437delinsTTTA c.4336_4339delinsTTTA (p.Phe1446=) c.3613_3616delinsTTTA (p.Phe1205=) c.2164_2167delinsTTTA (p.Phe722=) | |
2 | g.165380650T>A | CA349033886 | SCN2A | c.4367T>A (p.Phe1456Tyr) c.*2686T>A (n.*2686T>A) c.*2354T>A (n.*2354T>A) c.*4890T>A (n.*4890T>A) c.*2309T>A (n.*2309T>A) c.3971T>A (p.Phe1324Tyr) n.7435T>A c.4337T>A (p.Phe1446Tyr) c.3614T>A (p.Phe1205Tyr) c.2165T>A (p.Phe722Tyr) | |
2 | g.165380650T>C | CA349033882 | SCN2A | c.4367T>C (p.Phe1456Ser) c.*2686T>C (n.*2686T>C) c.*2354T>C (n.*2354T>C) c.*4890T>C (n.*4890T>C) c.*2309T>C (n.*2309T>C) c.3971T>C (p.Phe1324Ser) n.7435T>C c.4337T>C (p.Phe1446Ser) c.3614T>C (p.Phe1205Ser) c.2165T>C (p.Phe722Ser) | |
2 | g.165380650T>G | CA349033879 | SCN2A | c.4367T>G (p.Phe1456Cys) c.*2686T>G (n.*2686T>G) c.*2354T>G (n.*2354T>G) c.*4890T>G (n.*4890T>G) c.*2309T>G (n.*2309T>G) c.3971T>G (p.Phe1324Cys) n.7435T>G c.4337T>G (p.Phe1446Cys) c.3614T>G (p.Phe1205Cys) c.2165T>G (p.Phe722Cys) | |
2 | g.165380655_165380657del | CA318176 | SCN2A | c.4372_4374del (p.Ile1458del) c.*2691_*2693del (n.*2691_*2693del) c.*2359_*2361del (n.*2359_*2361del) c.*4895_*4897del (n.*4895_*4897del) c.*2314_*2316del (n.*2314_*2316del) c.3976_3978del (p.Ile1326del) n.7440_7442del c.4342_4344del (p.Ile1448del) c.3619_3621del (p.Ile1207del) c.2170_2172del (p.Ile724del) | ClinVar dbSNP |
2 | g.165380651T>A | CA349033889 | SCN2A | c.4368T>A (p.Phe1456Leu) c.*2687T>A (n.*2687T>A) c.*2355T>A (n.*2355T>A) c.*4891T>A (n.*4891T>A) c.*2310T>A (n.*2310T>A) c.3972T>A (p.Phe1324Leu) n.7436T>A c.4338T>A (p.Phe1446Leu) c.3615T>A (p.Phe1205Leu) c.2166T>A (p.Phe722Leu) | |
2 | g.165380651T>C | CA429888161 | SCN2A | c.4368T>C (p.Phe1456=) c.*2687T>C (n.*2687T>C) c.*2355T>C (n.*2355T>C) c.*4891T>C (n.*4891T>C) c.*2310T>C (n.*2310T>C) c.3972T>C (p.Phe1324=) n.7436T>C c.4338T>C (p.Phe1446=) c.3615T>C (p.Phe1205=) c.2166T>C (p.Phe722=) | |
2 | g.165380651T>G | CA349033891 | SCN2A | c.4368T>G (p.Phe1456Leu) c.*2687T>G (n.*2687T>G) c.*2355T>G (n.*2355T>G) c.*4891T>G (n.*4891T>G) c.*2310T>G (n.*2310T>G) c.3972T>G (p.Phe1324Leu) n.7436T>G c.4338T>G (p.Phe1446Leu) c.3615T>G (p.Phe1205Leu) c.2166T>G (p.Phe722Leu) | |
2 | g.165380652A= | CA1304561038 | SCN2A | c.4369A= (p.Ile1457=) c.*2688A= (n.*2688A=) c.*2356A= (n.*2356A=) c.*4892A= (n.*4892A=) c.*2311A= (n.*2311A=) c.3973A= (p.Ile1325=) n.7437A= c.4339A= (p.Ile1447=) c.3616A= (p.Ile1206=) c.2167A= (p.Ile723=) | |
2 | g.165380652A>C | CA349033894 | SCN2A | c.4369A>C (p.Ile1457Leu) c.*2688A>C (n.*2688A>C) c.*2356A>C (n.*2356A>C) c.*4892A>C (n.*4892A>C) c.*2311A>C (n.*2311A>C) c.3973A>C (p.Ile1325Leu) n.7437A>C c.4339A>C (p.Ile1447Leu) c.3616A>C (p.Ile1206Leu) c.2167A>C (p.Ile723Leu) | |
2 | g.165380652A>G | CA317973 | SCN2A | c.4369A>G (p.Ile1457Val) c.*2688A>G (n.*2688A>G) c.*2356A>G (n.*2356A>G) c.*4892A>G (n.*4892A>G) c.*2311A>G (n.*2311A>G) c.3973A>G (p.Ile1325Val) n.7437A>G c.4339A>G (p.Ile1447Val) c.3616A>G (p.Ile1206Val) c.2167A>G (p.Ile723Val) | ClinVar dbSNP |
2 | g.165380652A>T | CA349033896 | SCN2A | c.4369A>T (p.Ile1457Phe) c.*2688A>T (n.*2688A>T) c.*2356A>T (n.*2356A>T) c.*4892A>T (n.*4892A>T) c.*2311A>T (n.*2311A>T) c.3973A>T (p.Ile1325Phe) n.7437A>T c.4339A>T (p.Ile1447Phe) c.3616A>T (p.Ile1206Phe) c.2167A>T (p.Ile723Phe) | |
2 | g.165380653T>A | CA349033899 | SCN2A | c.4370T>A (p.Ile1457Asn) c.*2689T>A (n.*2689T>A) c.*2357T>A (n.*2357T>A) c.*4893T>A (n.*4893T>A) c.*2312T>A (n.*2312T>A) c.3974T>A (p.Ile1325Asn) n.7438T>A c.4340T>A (p.Ile1447Asn) c.3617T>A (p.Ile1206Asn) c.2168T>A (p.Ile723Asn) | ClinVar |
2 | g.165380653T>C | CA349033903 | SCN2A | c.4370T>C (p.Ile1457Thr) c.*2689T>C (n.*2689T>C) c.*2357T>C (n.*2357T>C) c.*4893T>C (n.*4893T>C) c.*2312T>C (n.*2312T>C) c.3974T>C (p.Ile1325Thr) n.7438T>C c.4340T>C (p.Ile1447Thr) c.3617T>C (p.Ile1206Thr) c.2168T>C (p.Ile723Thr) | |
2 | g.165380653T>G | CA349033900 | SCN2A | c.4370T>G (p.Ile1457Ser) c.*2689T>G (n.*2689T>G) c.*2357T>G (n.*2357T>G) c.*4893T>G (n.*4893T>G) c.*2312T>G (n.*2312T>G) c.3974T>G (p.Ile1325Ser) n.7438T>G c.4340T>G (p.Ile1447Ser) c.3617T>G (p.Ile1206Ser) c.2168T>G (p.Ile723Ser) | |
2 | g.165380654dup | CA645369162 | SCN2A | c.4371dup (p.Ile1458TyrfsTer18) c.*2690dup (n.*2690dup) c.*2358dup (n.*2358dup) c.*4894dup (n.*4894dup) c.*2313dup (n.*2313dup) c.3975dup (p.Ile1326TyrfsTer18) n.7439dup c.4341dup (p.Ile1448TyrfsTer18) c.3618dup (p.Ile1207TyrfsTer18) c.2169dup (p.Ile724TyrfsTer18) | ClinVar dbSNP |
2 | g.165380654T>A | CA429888164 | SCN2A | c.4371T>A (p.Ile1457=) c.*2690T>A (n.*2690T>A) c.*2358T>A (n.*2358T>A) c.*4894T>A (n.*4894T>A) c.*2313T>A (n.*2313T>A) c.3975T>A (p.Ile1325=) n.7439T>A c.4341T>A (p.Ile1447=) c.3618T>A (p.Ile1206=) c.2169T>A (p.Ile723=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.165380654T>C | CA429888165 | SCN2A | c.4371T>C (p.Ile1457=) c.*2690T>C (n.*2690T>C) c.*2358T>C (n.*2358T>C) c.*4894T>C (n.*4894T>C) c.*2313T>C (n.*2313T>C) c.3975T>C (p.Ile1325=) n.7439T>C c.4341T>C (p.Ile1447=) c.3618T>C (p.Ile1206=) c.2169T>C (p.Ile723=) | |
2 | g.165380654T>G | CA349033905 | SCN2A | c.4371T>G (p.Ile1457Met) c.*2690T>G (n.*2690T>G) c.*2358T>G (n.*2358T>G) c.*4894T>G (n.*4894T>G) c.*2313T>G (n.*2313T>G) c.3975T>G (p.Ile1325Met) n.7439T>G c.4341T>G (p.Ile1447Met) c.3618T>G (p.Ile1206Met) c.2169T>G (p.Ile723Met) | |
2 | g.165380654T= | CA1304561039 | SCN2A | c.4371T= (p.Ile1457=) c.*2690T= (n.*2690T=) c.*2358T= (n.*2358T=) c.*4894T= (n.*4894T=) c.*2313T= (n.*2313T=) c.3975T= (p.Ile1325=) n.7439T= c.4341T= (p.Ile1447=) c.3618T= (p.Ile1206=) c.2169T= (p.Ile723=) | |
2 | g.165380655A>C | CA349033919 | SCN2A | c.4372A>C (p.Ile1458Leu) c.*2691A>C (n.*2691A>C) c.*2359A>C (n.*2359A>C) c.*4895A>C (n.*4895A>C) c.*2314A>C (n.*2314A>C) c.3976A>C (p.Ile1326Leu) n.7440A>C c.4342A>C (p.Ile1448Leu) c.3619A>C (p.Ile1207Leu) c.2170A>C (p.Ile724Leu) | |
2 | g.165380655A>G | CA349033917 | SCN2A | c.4372A>G (p.Ile1458Val) c.*2691A>G (n.*2691A>G) c.*2359A>G (n.*2359A>G) c.*4895A>G (n.*4895A>G) c.*2314A>G (n.*2314A>G) c.3976A>G (p.Ile1326Val) n.7440A>G c.4342A>G (p.Ile1448Val) c.3619A>G (p.Ile1207Val) c.2170A>G (p.Ile724Val) | |
2 | g.165380655A>T | CA349033916 | SCN2A | c.4372A>T (p.Ile1458Phe) c.*2691A>T (n.*2691A>T) c.*2359A>T (n.*2359A>T) c.*4895A>T (n.*4895A>T) c.*2314A>T (n.*2314A>T) c.3976A>T (p.Ile1326Phe) n.7440A>T c.4342A>T (p.Ile1448Phe) c.3619A>T (p.Ile1207Phe) c.2170A>T (p.Ile724Phe) | |
2 | g.165380656T>A | CA349033922 | SCN2A | c.4373T>A (p.Ile1458Asn) c.*2692T>A (n.*2692T>A) c.*2360T>A (n.*2360T>A) c.*4896T>A (n.*4896T>A) c.*2315T>A (n.*2315T>A) c.3977T>A (p.Ile1326Asn) n.7441T>A c.4343T>A (p.Ile1448Asn) c.3620T>A (p.Ile1207Asn) c.2171T>A (p.Ile724Asn) | |
2 | g.165380656T>C | CA349033926 | SCN2A | c.4373T>C (p.Ile1458Thr) c.*2692T>C (n.*2692T>C) c.*2360T>C (n.*2360T>C) c.*4896T>C (n.*4896T>C) c.*2315T>C (n.*2315T>C) c.3977T>C (p.Ile1326Thr) n.7441T>C c.4343T>C (p.Ile1448Thr) c.3620T>C (p.Ile1207Thr) c.2171T>C (p.Ile724Thr) | |
2 | g.165380656T>G | CA349033925 | SCN2A | c.4373T>G (p.Ile1458Ser) c.*2692T>G (n.*2692T>G) c.*2360T>G (n.*2360T>G) c.*4896T>G (n.*4896T>G) c.*2315T>G (n.*2315T>G) c.3977T>G (p.Ile1326Ser) n.7441T>G c.4343T>G (p.Ile1448Ser) c.3620T>G (p.Ile1207Ser) c.2171T>G (p.Ile724Ser) | |
2 | g.165380660del | CA2838353689 | SCN2A | c.4377del (p.Phe1459LeufsTer7) c.*2696del (n.*2696del) c.*2364del (n.*2364del) c.*4900del (n.*4900del) c.*2319del (n.*2319del) c.3981del (p.Phe1327LeufsTer7) n.7445del c.4347del (p.Phe1449LeufsTer7) c.3624del (p.Phe1208LeufsTer7) c.2175del (p.Phe725LeufsTer7) | |
2 | g.165380657T>A | CA429888167 | SCN2A | c.4374T>A (p.Ile1458=) c.*2693T>A (n.*2693T>A) c.*2361T>A (n.*2361T>A) c.*4897T>A (n.*4897T>A) c.*2316T>A (n.*2316T>A) c.3978T>A (p.Ile1326=) n.7442T>A c.4344T>A (p.Ile1448=) c.3621T>A (p.Ile1207=) c.2172T>A (p.Ile724=) | |
2 | g.165380657T>C | CA429888168 | SCN2A | c.4374T>C (p.Ile1458=) c.*2693T>C (n.*2693T>C) c.*2361T>C (n.*2361T>C) c.*4897T>C (n.*4897T>C) c.*2316T>C (n.*2316T>C) c.3978T>C (p.Ile1326=) n.7442T>C c.4344T>C (p.Ile1448=) c.3621T>C (p.Ile1207=) c.2172T>C (p.Ile724=) | |
2 | g.165380657T>G | CA349033929 | SCN2A | c.4374T>G (p.Ile1458Met) c.*2693T>G (n.*2693T>G) c.*2361T>G (n.*2361T>G) c.*4897T>G (n.*4897T>G) c.*2316T>G (n.*2316T>G) c.3978T>G (p.Ile1326Met) n.7442T>G c.4344T>G (p.Ile1448Met) c.3621T>G (p.Ile1207Met) c.2172T>G (p.Ile724Met) | |
2 | g.165380658T>A | CA349033932 | SCN2A | c.4375T>A (p.Phe1459Ile) c.*2694T>A (n.*2694T>A) c.*2362T>A (n.*2362T>A) c.*4898T>A (n.*4898T>A) c.*2317T>A (n.*2317T>A) c.3979T>A (p.Phe1327Ile) n.7443T>A c.4345T>A (p.Phe1449Ile) c.3622T>A (p.Phe1208Ile) c.2173T>A (p.Phe725Ile) | |
2 | g.165380658T>C | CA349033934 | SCN2A | c.4375T>C (p.Phe1459Leu) c.*2694T>C (n.*2694T>C) c.*2362T>C (n.*2362T>C) c.*4898T>C (n.*4898T>C) c.*2317T>C (n.*2317T>C) c.3979T>C (p.Phe1327Leu) n.7443T>C c.4345T>C (p.Phe1449Leu) c.3622T>C (p.Phe1208Leu) c.2173T>C (p.Phe725Leu) | |
2 | g.165380658T>G | CA349033935 | SCN2A | c.4375T>G (p.Phe1459Val) c.*2694T>G (n.*2694T>G) c.*2362T>G (n.*2362T>G) c.*4898T>G (n.*4898T>G) c.*2317T>G (n.*2317T>G) c.3979T>G (p.Phe1327Val) n.7443T>G c.4345T>G (p.Phe1449Val) c.3622T>G (p.Phe1208Val) c.2173T>G (p.Phe725Val) | |
2 | g.165380659T>A | CA349033940 | SCN2A | c.4376T>A (p.Phe1459Tyr) c.*2695T>A (n.*2695T>A) c.*2363T>A (n.*2363T>A) c.*4899T>A (n.*4899T>A) c.*2318T>A (n.*2318T>A) c.3980T>A (p.Phe1327Tyr) n.7444T>A c.4346T>A (p.Phe1449Tyr) c.3623T>A (p.Phe1208Tyr) c.2174T>A (p.Phe725Tyr) | |
2 | g.165380659T>C | CA349033941 | SCN2A | c.4376T>C (p.Phe1459Ser) c.*2695T>C (n.*2695T>C) c.*2363T>C (n.*2363T>C) c.*4899T>C (n.*4899T>C) c.*2318T>C (n.*2318T>C) c.3980T>C (p.Phe1327Ser) n.7444T>C c.4346T>C (p.Phe1449Ser) c.3623T>C (p.Phe1208Ser) c.2174T>C (p.Phe725Ser) | |
2 | g.165380659T>G | CA349033943 | SCN2A | c.4376T>G (p.Phe1459Cys) c.*2695T>G (n.*2695T>G) c.*2363T>G (n.*2363T>G) c.*4899T>G (n.*4899T>G) c.*2318T>G (n.*2318T>G) c.3980T>G (p.Phe1327Cys) n.7444T>G c.4346T>G (p.Phe1449Cys) c.3623T>G (p.Phe1208Cys) c.2174T>G (p.Phe725Cys) | ClinVar dbSNP COSMIC |
2 | g.165380660T>A | CA349033946 | SCN2A | c.4377T>A (p.Phe1459Leu) c.*2696T>A (n.*2696T>A) c.*2364T>A (n.*2364T>A) c.*4900T>A (n.*4900T>A) c.*2319T>A (n.*2319T>A) c.3981T>A (p.Phe1327Leu) n.7445T>A c.4347T>A (p.Phe1449Leu) c.3624T>A (p.Phe1208Leu) c.2175T>A (p.Phe725Leu) | |
2 | g.165380660T>C | CA429888171 | SCN2A | c.4377T>C (p.Phe1459=) c.*2696T>C (n.*2696T>C) c.*2364T>C (n.*2364T>C) c.*4900T>C (n.*4900T>C) c.*2319T>C (n.*2319T>C) c.3981T>C (p.Phe1327=) n.7445T>C c.4347T>C (p.Phe1449=) c.3624T>C (p.Phe1208=) c.2175T>C (p.Phe725=) | |
2 | g.165380660T>G | CA349033949 | SCN2A | c.4377T>G (p.Phe1459Leu) c.*2696T>G (n.*2696T>G) c.*2364T>G (n.*2364T>G) c.*4900T>G (n.*4900T>G) c.*2319T>G (n.*2319T>G) c.3981T>G (p.Phe1327Leu) n.7445T>G c.4347T>G (p.Phe1449Leu) c.3624T>G (p.Phe1208Leu) c.2175T>G (p.Phe725Leu) | ClinVar |
2 | g.165380661G>A | CA349033952 | SCN2A | c.4378G>A (p.Gly1460Ser) c.*2697G>A (n.*2697G>A) c.*2365G>A (n.*2365G>A) c.*4901G>A (n.*4901G>A) c.*2320G>A (n.*2320G>A) c.3982G>A (p.Gly1328Ser) n.7446G>A c.4348G>A (p.Gly1450Ser) c.3625G>A (p.Gly1209Ser) c.2176G>A (p.Gly726Ser) | |
2 | g.165380661G>C | CA349033958 | SCN2A | c.4378G>C (p.Gly1460Arg) c.*2697G>C (n.*2697G>C) c.*2365G>C (n.*2365G>C) c.*4901G>C (n.*4901G>C) c.*2320G>C (n.*2320G>C) c.3982G>C (p.Gly1328Arg) n.7446G>C c.4348G>C (p.Gly1450Arg) c.3625G>C (p.Gly1209Arg) c.2176G>C (p.Gly726Arg) | |
2 | g.165380661G>T | CA349033959 | SCN2A | c.4378G>T (p.Gly1460Cys) c.*2697G>T (n.*2697G>T) c.*2365G>T (n.*2365G>T) c.*4901G>T (n.*4901G>T) c.*2320G>T (n.*2320G>T) c.3982G>T (p.Gly1328Cys) n.7446G>T c.4348G>T (p.Gly1450Cys) c.3625G>T (p.Gly1209Cys) c.2176G>T (p.Gly726Cys) | gnomAD v4 COSMIC COSMIC |
2 | g.165380662G>A | CA349033968 | SCN2A | c.4379G>A (p.Gly1460Asp) c.*2698G>A (n.*2698G>A) c.*2366G>A (n.*2366G>A) c.*4902G>A (n.*4902G>A) c.*2321G>A (n.*2321G>A) c.3983G>A (p.Gly1328Asp) n.7447G>A c.4349G>A (p.Gly1450Asp) c.3626G>A (p.Gly1209Asp) c.2177G>A (p.Gly726Asp) | ClinVar COSMIC COSMIC |
2 | g.165380662G>C | CA349033964 | SCN2A | c.4379G>C (p.Gly1460Ala) c.*2698G>C (n.*2698G>C) c.*2366G>C (n.*2366G>C) c.*4902G>C (n.*4902G>C) c.*2321G>C (n.*2321G>C) c.3983G>C (p.Gly1328Ala) n.7447G>C c.4349G>C (p.Gly1450Ala) c.3626G>C (p.Gly1209Ala) c.2177G>C (p.Gly726Ala) | |
2 | g.165380662G>T | CA349033966 | SCN2A | c.4379G>T (p.Gly1460Val) c.*2698G>T (n.*2698G>T) c.*2366G>T (n.*2366G>T) c.*4902G>T (n.*4902G>T) c.*2321G>T (n.*2321G>T) c.3983G>T (p.Gly1328Val) n.7447G>T c.4349G>T (p.Gly1450Val) c.3626G>T (p.Gly1209Val) c.2177G>T (p.Gly726Val) | |
2 | g.165380663T>A | CA429888176 | SCN2A | c.4380T>A (p.Gly1460=) c.*2699T>A (n.*2699T>A) c.*2367T>A (n.*2367T>A) c.*4903T>A (n.*4903T>A) c.*2322T>A (n.*2322T>A) c.3984T>A (p.Gly1328=) n.7448T>A c.4350T>A (p.Gly1450=) c.3627T>A (p.Gly1209=) c.2178T>A (p.Gly726=) | |
2 | g.165380663T>C | CA429888174 | SCN2A | c.4380T>C (p.Gly1460=) c.*2699T>C (n.*2699T>C) c.*2367T>C (n.*2367T>C) c.*4903T>C (n.*4903T>C) c.*2322T>C (n.*2322T>C) c.3984T>C (p.Gly1328=) n.7448T>C c.4350T>C (p.Gly1450=) c.3627T>C (p.Gly1209=) c.2178T>C (p.Gly726=) | gnomAD v4 |
2 | g.165380663T>G | CA429888173 | SCN2A | c.4380T>G (p.Gly1460=) c.*2699T>G (n.*2699T>G) c.*2367T>G (n.*2367T>G) c.*4903T>G (n.*4903T>G) c.*2322T>G (n.*2322T>G) c.3984T>G (p.Gly1328=) n.7448T>G c.4350T>G (p.Gly1450=) c.3627T>G (p.Gly1209=) c.2178T>G (p.Gly726=) | dbSNP |
2 | g.165380664T>A | CA349033970 | SCN2A | c.4381T>A (p.Ser1461Thr) c.*2700T>A (n.*2700T>A) c.*2368T>A (n.*2368T>A) c.*4904T>A (n.*4904T>A) c.*2323T>A (n.*2323T>A) c.3985T>A (p.Ser1329Thr) n.7449T>A c.4351T>A (p.Ser1451Thr) c.3628T>A (p.Ser1210Thr) c.2179T>A (p.Ser727Thr) | |
2 | g.165380664T>C | CA349033973 | SCN2A | c.4381T>C (p.Ser1461Pro) c.*2700T>C (n.*2700T>C) c.*2368T>C (n.*2368T>C) c.*4904T>C (n.*4904T>C) c.*2323T>C (n.*2323T>C) c.3985T>C (p.Ser1329Pro) n.7449T>C c.4351T>C (p.Ser1451Pro) c.3628T>C (p.Ser1210Pro) c.2179T>C (p.Ser727Pro) | |
2 | g.165380664T>G | CA349033978 | SCN2A | c.4381T>G (p.Ser1461Ala) c.*2700T>G (n.*2700T>G) c.*2368T>G (n.*2368T>G) c.*4904T>G (n.*4904T>G) c.*2323T>G (n.*2323T>G) c.3985T>G (p.Ser1329Ala) n.7449T>G c.4351T>G (p.Ser1451Ala) c.3628T>G (p.Ser1210Ala) c.2179T>G (p.Ser727Ala) | |
2 | g.165380665C>A | CA349033980 | SCN2A | c.4382C>A (p.Ser1461Ter) c.*2701C>A (n.*2701C>A) c.*2369C>A (n.*2369C>A) c.*4905C>A (n.*4905C>A) c.*2324C>A (n.*2324C>A) c.3986C>A (p.Ser1329Ter) n.7450C>A c.4352C>A (p.Ser1451Ter) c.3629C>A (p.Ser1210Ter) c.2180C>A (p.Ser727Ter) | |
2 | g.165380665C>G | CA349033987 | SCN2A | c.4382C>G (p.Ser1461Ter) c.*2701C>G (n.*2701C>G) c.*2369C>G (n.*2369C>G) c.*4905C>G (n.*4905C>G) c.*2324C>G (n.*2324C>G) c.3986C>G (p.Ser1329Ter) n.7450C>G c.4352C>G (p.Ser1451Ter) c.3629C>G (p.Ser1210Ter) c.2180C>G (p.Ser727Ter) | |
2 | g.165380665C>T | CA349033990 | SCN2A | c.4382C>T (p.Ser1461Leu) c.*2701C>T (n.*2701C>T) c.*2369C>T (n.*2369C>T) c.*4905C>T (n.*4905C>T) c.*2324C>T (n.*2324C>T) c.3986C>T (p.Ser1329Leu) n.7450C>T c.4352C>T (p.Ser1451Leu) c.3629C>T (p.Ser1210Leu) c.2180C>T (p.Ser727Leu) | |
2 | g.165380666A= | CA1304561040 | SCN2A | c.4383A= (p.Ser1461=) c.*2702A= (n.*2702A=) c.*2370A= (n.*2370A=) c.*4906A= (n.*4906A=) c.*2325A= (n.*2325A=) c.3987A= (p.Ser1329=) n.7451A= c.4353A= (p.Ser1451=) c.3630A= (p.Ser1210=) c.2181A= (p.Ser727=) | |
2 | g.165380666A>C | CA429888178 | SCN2A | c.4383A>C (p.Ser1461=) c.*2702A>C (n.*2702A>C) c.*2370A>C (n.*2370A>C) c.*4906A>C (n.*4906A>C) c.*2325A>C (n.*2325A>C) c.3987A>C (p.Ser1329=) n.7451A>C c.4353A>C (p.Ser1451=) c.3630A>C (p.Ser1210=) c.2181A>C (p.Ser727=) | |
2 | g.165380666A>G | CA429888179 | SCN2A | c.4383A>G (p.Ser1461=) c.*2702A>G (n.*2702A>G) c.*2370A>G (n.*2370A>G) c.*4906A>G (n.*4906A>G) c.*2325A>G (n.*2325A>G) c.3987A>G (p.Ser1329=) n.7451A>G c.4353A>G (p.Ser1451=) c.3630A>G (p.Ser1210=) c.2181A>G (p.Ser727=) | |
2 | g.165380666A>T | CA1940270 | SCN2A | c.4383A>T (p.Ser1461=) c.*2702A>T (n.*2702A>T) c.*2370A>T (n.*2370A>T) c.*4906A>T (n.*4906A>T) c.*2325A>T (n.*2325A>T) c.3987A>T (p.Ser1329=) n.7451A>T c.4353A>T (p.Ser1451=) c.3630A>T (p.Ser1210=) c.2181A>T (p.Ser727=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165380667T>A | CA349033996 | SCN2A | c.4384T>A (p.Phe1462Ile) c.*2703T>A (n.*2703T>A) c.*2371T>A (n.*2371T>A) c.*4907T>A (n.*4907T>A) c.*2326T>A (n.*2326T>A) c.3988T>A (p.Phe1330Ile) n.7452T>A c.4354T>A (p.Phe1452Ile) c.3631T>A (p.Phe1211Ile) c.2182T>A (p.Phe728Ile) | |
2 | g.165380667T>C | CA349033997 | SCN2A | c.4384T>C (p.Phe1462Leu) c.*2703T>C (n.*2703T>C) c.*2371T>C (n.*2371T>C) c.*4907T>C (n.*4907T>C) c.*2326T>C (n.*2326T>C) c.3988T>C (p.Phe1330Leu) n.7452T>C c.4354T>C (p.Phe1452Leu) c.3631T>C (p.Phe1211Leu) c.2182T>C (p.Phe728Leu) | |
2 | g.165380667T>G | CA349033999 | SCN2A | c.4384T>G (p.Phe1462Val) c.*2703T>G (n.*2703T>G) c.*2371T>G (n.*2371T>G) c.*4907T>G (n.*4907T>G) c.*2326T>G (n.*2326T>G) c.3988T>G (p.Phe1330Val) n.7452T>G c.4354T>G (p.Phe1452Val) c.3631T>G (p.Phe1211Val) c.2182T>G (p.Phe728Val) | |
2 | g.165380668del | CA2586970446 | SCN2A | c.4385del (p.Phe1462SerfsTer4) c.*2704del (n.*2704del) c.*2372del (n.*2372del) c.*4908del (n.*4908del) c.*2327del (n.*2327del) c.3989del (p.Phe1330SerfsTer4) n.7453del c.4355del (p.Phe1452SerfsTer4) c.3632del (p.Phe1211SerfsTer4) c.2183del (p.Phe728SerfsTer4) | |
2 | g.165380668T>A | CA349034004 | SCN2A | c.4385T>A (p.Phe1462Tyr) c.*2704T>A (n.*2704T>A) c.*2372T>A (n.*2372T>A) c.*4908T>A (n.*4908T>A) c.*2327T>A (n.*2327T>A) c.3989T>A (p.Phe1330Tyr) n.7453T>A c.4355T>A (p.Phe1452Tyr) c.3632T>A (p.Phe1211Tyr) c.2183T>A (p.Phe728Tyr) | |
2 | g.165380668T>C | CA349034003 | SCN2A | c.4385T>C (p.Phe1462Ser) c.*2704T>C (n.*2704T>C) c.*2372T>C (n.*2372T>C) c.*4908T>C (n.*4908T>C) c.*2327T>C (n.*2327T>C) c.3989T>C (p.Phe1330Ser) n.7453T>C c.4355T>C (p.Phe1452Ser) c.3632T>C (p.Phe1211Ser) c.2183T>C (p.Phe728Ser) | |
2 | g.165380668T>G | CA349034002 | SCN2A | c.4385T>G (p.Phe1462Cys) c.*2704T>G (n.*2704T>G) c.*2372T>G (n.*2372T>G) c.*4908T>G (n.*4908T>G) c.*2327T>G (n.*2327T>G) c.3989T>G (p.Phe1330Cys) n.7453T>G c.4355T>G (p.Phe1452Cys) c.3632T>G (p.Phe1211Cys) c.2183T>G (p.Phe728Cys) | |
2 | g.165380669C>A | CA349034005 | SCN2A | c.4386C>A (p.Phe1462Leu) c.*2705C>A (n.*2705C>A) c.*2373C>A (n.*2373C>A) c.*4909C>A (n.*4909C>A) c.*2328C>A (n.*2328C>A) c.3990C>A (p.Phe1330Leu) n.7454C>A c.4356C>A (p.Phe1452Leu) c.3633C>A (p.Phe1211Leu) c.2184C>A (p.Phe728Leu) | |
2 | g.165380669C= | CA1304561041 | SCN2A | c.4386C= (p.Phe1462=) c.*2705C= (n.*2705C=) c.*2373C= (n.*2373C=) c.*4909C= (n.*4909C=) c.*2328C= (n.*2328C=) c.3990C= (p.Phe1330=) n.7454C= c.4356C= (p.Phe1452=) c.3633C= (p.Phe1211=) c.2184C= (p.Phe728=) | |
2 | g.165380669C>G | CA349034006 | SCN2A | c.4386C>G (p.Phe1462Leu) c.*2705C>G (n.*2705C>G) c.*2373C>G (n.*2373C>G) c.*4909C>G (n.*4909C>G) c.*2328C>G (n.*2328C>G) c.3990C>G (p.Phe1330Leu) n.7454C>G c.4356C>G (p.Phe1452Leu) c.3633C>G (p.Phe1211Leu) c.2184C>G (p.Phe728Leu) | ClinVar dbSNP |
2 | g.165380669C>T | CA429888182 | SCN2A | c.4386C>T (p.Phe1462=) c.*2705C>T (n.*2705C>T) c.*2373C>T (n.*2373C>T) c.*4909C>T (n.*4909C>T) c.*2328C>T (n.*2328C>T) c.3990C>T (p.Phe1330=) n.7454C>T c.4356C>T (p.Phe1452=) c.3633C>T (p.Phe1211=) c.2184C>T (p.Phe728=) | dbSNP |
2 | g.165380670T>A | CA349034009 | SCN2A | c.4387T>A (p.Phe1463Ile) c.*2706T>A (n.*2706T>A) c.*2374T>A (n.*2374T>A) c.*4910T>A (n.*4910T>A) c.*2329T>A (n.*2329T>A) c.3991T>A (p.Phe1331Ile) n.7455T>A c.4357T>A (p.Phe1453Ile) c.3634T>A (p.Phe1212Ile) c.2185T>A (p.Phe729Ile) | |
2 | g.165380670T>C | CA349034011 | SCN2A | c.4387T>C (p.Phe1463Leu) c.*2706T>C (n.*2706T>C) c.*2374T>C (n.*2374T>C) c.*4910T>C (n.*4910T>C) c.*2329T>C (n.*2329T>C) c.3991T>C (p.Phe1331Leu) n.7455T>C c.4357T>C (p.Phe1453Leu) c.3634T>C (p.Phe1212Leu) c.2185T>C (p.Phe729Leu) | |
2 | g.165380670T>G | CA349034014 | SCN2A | c.4387T>G (p.Phe1463Val) c.*2706T>G (n.*2706T>G) c.*2374T>G (n.*2374T>G) c.*4910T>G (n.*4910T>G) c.*2329T>G (n.*2329T>G) c.3991T>G (p.Phe1331Val) n.7455T>G c.4357T>G (p.Phe1453Val) c.3634T>G (p.Phe1212Val) c.2185T>G (p.Phe729Val) | |
2 | g.165380672dup | CA916082218 | SCN2A | c.4389dup (p.Thr1464TyrfsTer12) c.*2708dup (n.*2708dup) c.*2376dup (n.*2376dup) c.*4912dup (n.*4912dup) c.*2331dup (n.*2331dup) c.3993dup (p.Thr1332TyrfsTer12) n.7457dup c.4359dup (p.Thr1454TyrfsTer12) c.3636dup (p.Thr1213TyrfsTer12) c.2187dup (p.Thr730TyrfsTer12) | ClinVar dbSNP |
2 | g.165380671T>A | CA349034015 | SCN2A | c.4388T>A (p.Phe1463Tyr) c.*2707T>A (n.*2707T>A) c.*2375T>A (n.*2375T>A) c.*4911T>A (n.*4911T>A) c.*2330T>A (n.*2330T>A) c.3992T>A (p.Phe1331Tyr) n.7456T>A c.4358T>A (p.Phe1453Tyr) c.3635T>A (p.Phe1212Tyr) c.2186T>A (p.Phe729Tyr) | |
2 | g.165380671T>C | CA349034017 | SCN2A | c.4388T>C (p.Phe1463Ser) c.*2707T>C (n.*2707T>C) c.*2375T>C (n.*2375T>C) c.*4911T>C (n.*4911T>C) c.*2330T>C (n.*2330T>C) c.3992T>C (p.Phe1331Ser) n.7456T>C c.4358T>C (p.Phe1453Ser) c.3635T>C (p.Phe1212Ser) c.2186T>C (p.Phe729Ser) | |
2 | g.165380671T>G | CA349034019 | SCN2A | c.4388T>G (p.Phe1463Cys) c.*2707T>G (n.*2707T>G) c.*2375T>G (n.*2375T>G) c.*4911T>G (n.*4911T>G) c.*2330T>G (n.*2330T>G) c.3992T>G (p.Phe1331Cys) n.7456T>G c.4358T>G (p.Phe1453Cys) c.3635T>G (p.Phe1212Cys) c.2186T>G (p.Phe729Cys) | |
2 | g.165380672T>A | CA349034022 | SCN2A | c.4389T>A (p.Phe1463Leu) c.*2708T>A (n.*2708T>A) c.*2376T>A (n.*2376T>A) c.*4912T>A (n.*4912T>A) c.*2331T>A (n.*2331T>A) c.3993T>A (p.Phe1331Leu) n.7457T>A c.4359T>A (p.Phe1453Leu) c.3636T>A (p.Phe1212Leu) c.2187T>A (p.Phe729Leu) | |
2 | g.165380672T>C | CA429888186 | SCN2A | c.4389T>C (p.Phe1463=) c.*2708T>C (n.*2708T>C) c.*2376T>C (n.*2376T>C) c.*4912T>C (n.*4912T>C) c.*2331T>C (n.*2331T>C) c.3993T>C (p.Phe1331=) n.7457T>C c.4359T>C (p.Phe1453=) c.3636T>C (p.Phe1212=) c.2187T>C (p.Phe729=) | |
2 | g.165380672T>G | CA349034032 | SCN2A | c.4389T>G (p.Phe1463Leu) c.*2708T>G (n.*2708T>G) c.*2376T>G (n.*2376T>G) c.*4912T>G (n.*4912T>G) c.*2331T>G (n.*2331T>G) c.3993T>G (p.Phe1331Leu) n.7457T>G c.4359T>G (p.Phe1453Leu) c.3636T>G (p.Phe1212Leu) c.2187T>G (p.Phe729Leu) | |
2 | g.165380673A>C | CA349034035 | SCN2A | c.4390A>C (p.Thr1464Pro) c.*2709A>C (n.*2709A>C) c.*2377A>C (n.*2377A>C) c.*4913A>C (n.*4913A>C) c.*2332A>C (n.*2332A>C) c.3994A>C (p.Thr1332Pro) n.7458A>C c.4360A>C (p.Thr1454Pro) c.3637A>C (p.Thr1213Pro) c.2188A>C (p.Thr730Pro) | |
2 | g.165380673A>G | CA349034038 | SCN2A | c.4390A>G (p.Thr1464Ala) c.*2709A>G (n.*2709A>G) c.*2377A>G (n.*2377A>G) c.*4913A>G (n.*4913A>G) c.*2332A>G (n.*2332A>G) c.3994A>G (p.Thr1332Ala) n.7458A>G c.4360A>G (p.Thr1454Ala) c.3637A>G (p.Thr1213Ala) c.2188A>G (p.Thr730Ala) | |
2 | g.165380673A>T | CA349034040 | SCN2A | c.4390A>T (p.Thr1464Ser) c.*2709A>T (n.*2709A>T) c.*2377A>T (n.*2377A>T) c.*4913A>T (n.*4913A>T) c.*2332A>T (n.*2332A>T) c.3994A>T (p.Thr1332Ser) n.7458A>T c.4360A>T (p.Thr1454Ser) c.3637A>T (p.Thr1213Ser) c.2188A>T (p.Thr730Ser) | |
2 | g.165380674C>A | CA349034045 | SCN2A | c.4391C>A (p.Thr1464Asn) c.*2710C>A (n.*2710C>A) c.*2378C>A (n.*2378C>A) c.*4914C>A (n.*4914C>A) c.*2333C>A (n.*2333C>A) c.3995C>A (p.Thr1332Asn) n.7459C>A c.4361C>A (p.Thr1454Asn) c.3638C>A (p.Thr1213Asn) c.2189C>A (p.Thr730Asn) | |
2 | g.165380674C= | CA1304561042 | SCN2A | c.4391C= (p.Thr1464=) c.*2710C= (n.*2710C=) c.*2378C= (n.*2378C=) c.*4914C= (n.*4914C=) c.*2333C= (n.*2333C=) c.3995C= (p.Thr1332=) n.7459C= c.4361C= (p.Thr1454=) c.3638C= (p.Thr1213=) c.2189C= (p.Thr730=) | |
2 | g.165380674C>G | CA349034049 | SCN2A | c.4391C>G (p.Thr1464Ser) c.*2710C>G (n.*2710C>G) c.*2378C>G (n.*2378C>G) c.*4914C>G (n.*4914C>G) c.*2333C>G (n.*2333C>G) c.3995C>G (p.Thr1332Ser) n.7459C>G c.4361C>G (p.Thr1454Ser) c.3638C>G (p.Thr1213Ser) c.2189C>G (p.Thr730Ser) | |
2 | g.165380674C>T | CA349034047 | SCN2A | c.4391C>T (p.Thr1464Ile) c.*2710C>T (n.*2710C>T) c.*2378C>T (n.*2378C>T) c.*4914C>T (n.*4914C>T) c.*2333C>T (n.*2333C>T) c.3995C>T (p.Thr1332Ile) n.7459C>T c.4361C>T (p.Thr1454Ile) c.3638C>T (p.Thr1213Ile) c.2189C>T (p.Thr730Ile) | ClinVar dbSNP |
2 | g.165380675C>A | CA429888189 | SCN2A | c.4392C>A (p.Thr1464=) c.*2711C>A (n.*2711C>A) c.*2379C>A (n.*2379C>A) c.*4915C>A (n.*4915C>A) c.*2334C>A (n.*2334C>A) c.3996C>A (p.Thr1332=) n.7460C>A c.4362C>A (p.Thr1454=) c.3639C>A (p.Thr1213=) c.2190C>A (p.Thr730=) | |
2 | g.165380675C>G | CA429888190 | SCN2A | c.4392C>G (p.Thr1464=) c.*2711C>G (n.*2711C>G) c.*2379C>G (n.*2379C>G) c.*4915C>G (n.*4915C>G) c.*2334C>G (n.*2334C>G) c.3996C>G (p.Thr1332=) n.7460C>G c.4362C>G (p.Thr1454=) c.3639C>G (p.Thr1213=) c.2190C>G (p.Thr730=) | gnomAD v4 |
2 | g.165380675C>T | CA429888192 | SCN2A | c.4392C>T (p.Thr1464=) c.*2711C>T (n.*2711C>T) c.*2379C>T (n.*2379C>T) c.*4915C>T (n.*4915C>T) c.*2334C>T (n.*2334C>T) c.3996C>T (p.Thr1332=) n.7460C>T c.4362C>T (p.Thr1454=) c.3639C>T (p.Thr1213=) c.2190C>T (p.Thr730=) | gnomAD v4 |
2 | g.165380676T>A | CA349034052 | SCN2A | c.4393T>A (p.Leu1465Met) c.*2712T>A (n.*2712T>A) c.*2380T>A (n.*2380T>A) c.*4916T>A (n.*4916T>A) c.*2335T>A (n.*2335T>A) c.3997T>A (p.Leu1333Met) n.7461T>A c.4363T>A (p.Leu1455Met) c.3640T>A (p.Leu1214Met) c.2191T>A (p.Leu731Met) | |
2 | g.165380676T>C | CA429888194 | SCN2A | c.4393T>C (p.Leu1465=) c.*2712T>C (n.*2712T>C) c.*2380T>C (n.*2380T>C) c.*4916T>C (n.*4916T>C) c.*2335T>C (n.*2335T>C) c.3997T>C (p.Leu1333=) n.7461T>C c.4363T>C (p.Leu1455=) c.3640T>C (p.Leu1214=) c.2191T>C (p.Leu731=) | |
2 | g.165380676T>G | CA349034054 | SCN2A | c.4393T>G (p.Leu1465Val) c.*2712T>G (n.*2712T>G) c.*2380T>G (n.*2380T>G) c.*4916T>G (n.*4916T>G) c.*2335T>G (n.*2335T>G) c.3997T>G (p.Leu1333Val) n.7461T>G c.4363T>G (p.Leu1455Val) c.3640T>G (p.Leu1214Val) c.2191T>G (p.Leu731Val) | |
2 | g.165380677T>A | CA349034057 | SCN2A | c.4394T>A (p.Leu1465Ter) c.*2713T>A (n.*2713T>A) c.*2381T>A (n.*2381T>A) c.*4917T>A (n.*4917T>A) c.*2336T>A (n.*2336T>A) c.3998T>A (p.Leu1333Ter) n.7462T>A c.4364T>A (p.Leu1455Ter) c.3641T>A (p.Leu1214Ter) c.2192T>A (p.Leu731Ter) | dbSNP |
2 | g.165380677T>C | CA349034060 | SCN2A | c.4394T>C (p.Leu1465Ser) c.*2713T>C (n.*2713T>C) c.*2381T>C (n.*2381T>C) c.*4917T>C (n.*4917T>C) c.*2336T>C (n.*2336T>C) c.3998T>C (p.Leu1333Ser) n.7462T>C c.4364T>C (p.Leu1455Ser) c.3641T>C (p.Leu1214Ser) c.2192T>C (p.Leu731Ser) | gnomAD v4 |
2 | g.165380677T>G | CA317976 | SCN2A | c.4394T>G (p.Leu1465Trp) c.*2713T>G (n.*2713T>G) c.*2381T>G (n.*2381T>G) c.*4917T>G (n.*4917T>G) c.*2336T>G (n.*2336T>G) c.3998T>G (p.Leu1333Trp) n.7462T>G c.4364T>G (p.Leu1455Trp) c.3641T>G (p.Leu1214Trp) c.2192T>G (p.Leu731Trp) | ClinVar dbSNP |
2 | g.165380677T= | CA1304561043 | SCN2A | c.4394T= (p.Leu1465=) c.*2713T= (n.*2713T=) c.*2381T= (n.*2381T=) c.*4917T= (n.*4917T=) c.*2336T= (n.*2336T=) c.3998T= (p.Leu1333=) n.7462T= c.4364T= (p.Leu1455=) c.3641T= (p.Leu1214=) c.2192T= (p.Leu731=) | |
2 | g.165380678G>A | CA429888196 | SCN2A | c.4395G>A (p.Leu1465=) c.*2714G>A (n.*2714G>A) c.*2382G>A (n.*2382G>A) c.*4918G>A (n.*4918G>A) c.*2337G>A (n.*2337G>A) c.3999G>A (p.Leu1333=) n.7463G>A c.4365G>A (p.Leu1455=) c.3642G>A (p.Leu1214=) c.2193G>A (p.Leu731=) | |
2 | g.165380678G>C | CA349034064 | SCN2A | c.4395G>C (p.Leu1465Phe) c.*2714G>C (n.*2714G>C) c.*2382G>C (n.*2382G>C) c.*4918G>C (n.*4918G>C) c.*2337G>C (n.*2337G>C) c.3999G>C (p.Leu1333Phe) n.7463G>C c.4365G>C (p.Leu1455Phe) c.3642G>C (p.Leu1214Phe) c.2193G>C (p.Leu731Phe) | |
2 | g.165380678G>T | CA349034066 | SCN2A | c.4395G>T (p.Leu1465Phe) c.*2714G>T (n.*2714G>T) c.*2382G>T (n.*2382G>T) c.*4918G>T (n.*4918G>T) c.*2337G>T (n.*2337G>T) c.3999G>T (p.Leu1333Phe) n.7463G>T c.4365G>T (p.Leu1455Phe) c.3642G>T (p.Leu1214Phe) c.2193G>T (p.Leu731Phe) | |
2 | g.165380679A= | CA1304561044 | SCN2A | c.4396A= (p.Asn1466=) c.*2715A= (n.*2715A=) c.*2383A= (n.*2383A=) c.*4919A= (n.*4919A=) c.*2338A= (n.*2338A=) c.4000A= (p.Asn1334=) n.7464A= c.4366A= (p.Asn1456=) c.3643A= (p.Asn1215=) c.2194A= (p.Asn732=) | |
2 | g.165380679A>C | CA349034070 | SCN2A | c.4396A>C (p.Asn1466His) c.*2715A>C (n.*2715A>C) c.*2383A>C (n.*2383A>C) c.*4919A>C (n.*4919A>C) c.*2338A>C (n.*2338A>C) c.4000A>C (p.Asn1334His) n.7464A>C c.4366A>C (p.Asn1456His) c.3643A>C (p.Asn1215His) c.2194A>C (p.Asn732His) | |
2 | g.165380679A>G | CA59746445 | SCN2A | c.4396A>G (p.Asn1466Asp) c.*2715A>G (n.*2715A>G) c.*2383A>G (n.*2383A>G) c.*4919A>G (n.*4919A>G) c.*2338A>G (n.*2338A>G) c.4000A>G (p.Asn1334Asp) n.7464A>G c.4366A>G (p.Asn1456Asp) c.3643A>G (p.Asn1215Asp) c.2194A>G (p.Asn732Asp) | dbSNP |
2 | g.165380679A>T | CA349034079 | SCN2A | c.4396A>T (p.Asn1466Tyr) c.*2715A>T (n.*2715A>T) c.*2383A>T (n.*2383A>T) c.*4919A>T (n.*4919A>T) c.*2338A>T (n.*2338A>T) c.4000A>T (p.Asn1334Tyr) n.7464A>T c.4366A>T (p.Asn1456Tyr) c.3643A>T (p.Asn1215Tyr) c.2194A>T (p.Asn732Tyr) | |
2 | g.165380680A>C | CA349034090 | SCN2A | c.4397A>C (p.Asn1466Thr) c.*2716A>C (n.*2716A>C) c.*2384A>C (n.*2384A>C) c.*4920A>C (n.*4920A>C) c.*2339A>C (n.*2339A>C) c.4001A>C (p.Asn1334Thr) n.7465A>C c.4367A>C (p.Asn1456Thr) c.3644A>C (p.Asn1215Thr) c.2195A>C (p.Asn732Thr) | |
2 | g.165380680A>G | CA349034084 | SCN2A | c.4397A>G (p.Asn1466Ser) c.*2716A>G (n.*2716A>G) c.*2384A>G (n.*2384A>G) c.*4920A>G (n.*4920A>G) c.*2339A>G (n.*2339A>G) c.4001A>G (p.Asn1334Ser) n.7465A>G c.4367A>G (p.Asn1456Ser) c.3644A>G (p.Asn1215Ser) c.2195A>G (p.Asn732Ser) | gnomAD v4 |
2 | g.165380680A>T | CA349034083 | SCN2A | c.4397A>T (p.Asn1466Ile) c.*2716A>T (n.*2716A>T) c.*2384A>T (n.*2384A>T) c.*4920A>T (n.*4920A>T) c.*2339A>T (n.*2339A>T) c.4001A>T (p.Asn1334Ile) n.7465A>T c.4367A>T (p.Asn1456Ile) c.3644A>T (p.Asn1215Ile) c.2195A>T (p.Asn732Ile) | |
2 | g.165380681T>A | CA349034093 | SCN2A | c.4398T>A (p.Asn1466Lys) c.*2717T>A (n.*2717T>A) c.*2385T>A (n.*2385T>A) c.*4921T>A (n.*4921T>A) c.*2340T>A (n.*2340T>A) c.4002T>A (p.Asn1334Lys) n.7466T>A c.4368T>A (p.Asn1456Lys) c.3645T>A (p.Asn1215Lys) c.2196T>A (p.Asn732Lys) | |
2 | g.165380681T>C | CA429888200 | SCN2A | c.4398T>C (p.Asn1466=) c.*2717T>C (n.*2717T>C) c.*2385T>C (n.*2385T>C) c.*4921T>C (n.*4921T>C) c.*2340T>C (n.*2340T>C) c.4002T>C (p.Asn1334=) n.7466T>C c.4368T>C (p.Asn1456=) c.3645T>C (p.Asn1215=) c.2196T>C (p.Asn732=) | |
2 | g.165380681T>G | CA349034097 | SCN2A | c.4398T>G (p.Asn1466Lys) c.*2717T>G (n.*2717T>G) c.*2385T>G (n.*2385T>G) c.*4921T>G (n.*4921T>G) c.*2340T>G (n.*2340T>G) c.4002T>G (p.Asn1334Lys) n.7466T>G c.4368T>G (p.Asn1456Lys) c.3645T>G (p.Asn1215Lys) c.2196T>G (p.Asn732Lys) | |
2 | g.165380682del | CA2700919468 | SCN2A | c.4399del (p.Leu1467PhefsTer7) c.*2718del (n.*2718del) c.*2386del (n.*2386del) c.*4922del (n.*4922del) c.*2341del (n.*2341del) c.4003del (p.Leu1335PhefsTer7) n.7467del c.4369del (p.Leu1457PhefsTer7) c.3646del (p.Leu1216PhefsTer7) c.2197del (p.Leu733PhefsTer7) | dbSNP |
2 | g.165380682C>A | CA349034099 | SCN2A | c.4399C>A (p.Leu1467Ile) c.*2718C>A (n.*2718C>A) c.*2386C>A (n.*2386C>A) c.*4922C>A (n.*4922C>A) c.*2341C>A (n.*2341C>A) c.4003C>A (p.Leu1335Ile) n.7467C>A c.4369C>A (p.Leu1457Ile) c.3646C>A (p.Leu1216Ile) c.2197C>A (p.Leu733Ile) | COSMIC COSMIC |
2 | g.165380682C>G | CA349034102 | SCN2A | c.4399C>G (p.Leu1467Val) c.*2718C>G (n.*2718C>G) c.*2386C>G (n.*2386C>G) c.*4922C>G (n.*4922C>G) c.*2341C>G (n.*2341C>G) c.4003C>G (p.Leu1335Val) n.7467C>G c.4369C>G (p.Leu1457Val) c.3646C>G (p.Leu1216Val) c.2197C>G (p.Leu733Val) | ClinVar dbSNP |
2 | g.165380682C>T | CA349034106 | SCN2A | c.4399C>T (p.Leu1467Phe) c.*2718C>T (n.*2718C>T) c.*2386C>T (n.*2386C>T) c.*4922C>T (n.*4922C>T) c.*2341C>T (n.*2341C>T) c.4003C>T (p.Leu1335Phe) n.7467C>T c.4369C>T (p.Leu1457Phe) c.3646C>T (p.Leu1216Phe) c.2197C>T (p.Leu733Phe) | |
2 | g.165380683T>A | CA349034108 | SCN2A | c.4400T>A (p.Leu1467His) c.*2719T>A (n.*2719T>A) c.*2387T>A (n.*2387T>A) c.*4923T>A (n.*4923T>A) c.*2342T>A (n.*2342T>A) c.4004T>A (p.Leu1335His) n.7468T>A c.4370T>A (p.Leu1457His) c.3647T>A (p.Leu1216His) c.2198T>A (p.Leu733His) | |
2 | g.165380683T>C | CA349034109 | SCN2A | c.4400T>C (p.Leu1467Pro) c.*2719T>C (n.*2719T>C) c.*2387T>C (n.*2387T>C) c.*4923T>C (n.*4923T>C) c.*2342T>C (n.*2342T>C) c.4004T>C (p.Leu1335Pro) n.7468T>C c.4370T>C (p.Leu1457Pro) c.3647T>C (p.Leu1216Pro) c.2198T>C (p.Leu733Pro) | |
2 | g.165380683T>G | CA349034111 | SCN2A | c.4400T>G (p.Leu1467Arg) c.*2719T>G (n.*2719T>G) c.*2387T>G (n.*2387T>G) c.*4923T>G (n.*4923T>G) c.*2342T>G (n.*2342T>G) c.4004T>G (p.Leu1335Arg) n.7468T>G c.4370T>G (p.Leu1457Arg) c.3647T>G (p.Leu1216Arg) c.2198T>G (p.Leu733Arg) | |
2 | g.165380686del | CA2832528657 | SCN2A | c.4403del (p.Phe1468SerfsTer6) c.*2722del (n.*2722del) c.*2390del (n.*2390del) c.*4926del (n.*4926del) c.*2345del (n.*2345del) c.4007del (p.Phe1336SerfsTer6) n.7471del c.4373del (p.Phe1458SerfsTer6) c.3650del (p.Phe1217SerfsTer6) c.2201del (p.Phe734SerfsTer6) | |
2 | g.165380684T>A | CA429888203 | SCN2A | c.4401T>A (p.Leu1467=) c.*2720T>A (n.*2720T>A) c.*2388T>A (n.*2388T>A) c.*4924T>A (n.*4924T>A) c.*2343T>A (n.*2343T>A) c.4005T>A (p.Leu1335=) n.7469T>A c.4371T>A (p.Leu1457=) c.3648T>A (p.Leu1216=) c.2199T>A (p.Leu733=) | |
2 | g.165380684T>C | CA429888204 | SCN2A | c.4401T>C (p.Leu1467=) c.*2720T>C (n.*2720T>C) c.*2388T>C (n.*2388T>C) c.*4924T>C (n.*4924T>C) c.*2343T>C (n.*2343T>C) c.4005T>C (p.Leu1335=) n.7469T>C c.4371T>C (p.Leu1457=) c.3648T>C (p.Leu1216=) c.2199T>C (p.Leu733=) | |
2 | g.165380684T>G | CA1940271 | SCN2A | c.4401T>G (p.Leu1467=) c.*2720T>G (n.*2720T>G) c.*2388T>G (n.*2388T>G) c.*4924T>G (n.*4924T>G) c.*2343T>G (n.*2343T>G) c.4005T>G (p.Leu1335=) n.7469T>G c.4371T>G (p.Leu1457=) c.3648T>G (p.Leu1216=) c.2199T>G (p.Leu733=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.165380684T= | CA1304561045 | SCN2A | c.4401T= (p.Leu1467=) c.*2720T= (n.*2720T=) c.*2388T= (n.*2388T=) c.*4924T= (n.*4924T=) c.*2343T= (n.*2343T=) c.4005T= (p.Leu1335=) n.7469T= c.4371T= (p.Leu1457=) c.3648T= (p.Leu1216=) c.2199T= (p.Leu733=) | |
2 | g.165380685T>A | CA349034115 | SCN2A | c.4402T>A (p.Phe1468Ile) c.*2721T>A (n.*2721T>A) c.*2389T>A (n.*2389T>A) c.*4925T>A (n.*4925T>A) c.*2344T>A (n.*2344T>A) c.4006T>A (p.Phe1336Ile) n.7470T>A c.4372T>A (p.Phe1458Ile) c.3649T>A (p.Phe1217Ile) c.2200T>A (p.Phe734Ile) | |
2 | g.165380685T>C | CA349034117 | SCN2A | c.4402T>C (p.Phe1468Leu) c.*2721T>C (n.*2721T>C) c.*2389T>C (n.*2389T>C) c.*4925T>C (n.*4925T>C) c.*2344T>C (n.*2344T>C) c.4006T>C (p.Phe1336Leu) n.7470T>C c.4372T>C (p.Phe1458Leu) c.3649T>C (p.Phe1217Leu) c.2200T>C (p.Phe734Leu) | |
2 | g.165380685T>G | CA349034119 | SCN2A | c.4402T>G (p.Phe1468Val) c.*2721T>G (n.*2721T>G) c.*2389T>G (n.*2389T>G) c.*4925T>G (n.*4925T>G) c.*2344T>G (n.*2344T>G) c.4006T>G (p.Phe1336Val) n.7470T>G c.4372T>G (p.Phe1458Val) c.3649T>G (p.Phe1217Val) c.2200T>G (p.Phe734Val) | |
2 | g.165380686T>A | CA349034130 | SCN2A | c.4403T>A (p.Phe1468Tyr) c.*2722T>A (n.*2722T>A) c.*2390T>A (n.*2390T>A) c.*4926T>A (n.*4926T>A) c.*2345T>A (n.*2345T>A) c.4007T>A (p.Phe1336Tyr) n.7471T>A c.4373T>A (p.Phe1458Tyr) c.3650T>A (p.Phe1217Tyr) c.2201T>A (p.Phe734Tyr) | |
2 | g.165380686T>C | CA349034127 | SCN2A | c.4403T>C (p.Phe1468Ser) c.*2722T>C (n.*2722T>C) c.*2390T>C (n.*2390T>C) c.*4926T>C (n.*4926T>C) c.*2345T>C (n.*2345T>C) c.4007T>C (p.Phe1336Ser) n.7471T>C c.4373T>C (p.Phe1458Ser) c.3650T>C (p.Phe1217Ser) c.2201T>C (p.Phe734Ser) | ClinVar dbSNP |
2 | g.165380686T>G | CA349034123 | SCN2A | c.4403T>G (p.Phe1468Cys) c.*2722T>G (n.*2722T>G) c.*2390T>G (n.*2390T>G) c.*4926T>G (n.*4926T>G) c.*2345T>G (n.*2345T>G) c.4007T>G (p.Phe1336Cys) n.7471T>G c.4373T>G (p.Phe1458Cys) c.3650T>G (p.Phe1217Cys) c.2201T>G (p.Phe734Cys) | |
2 | g.165380686T= | CA1304561046 | SCN2A | c.4403T= (p.Phe1468=) c.*2722T= (n.*2722T=) c.*2390T= (n.*2390T=) c.*4926T= (n.*4926T=) c.*2345T= (n.*2345T=) c.4007T= (p.Phe1336=) n.7471T= c.4373T= (p.Phe1458=) c.3650T= (p.Phe1217=) c.2201T= (p.Phe734=) | |
2 | g.165380687C>A | CA349034132 | SCN2A | c.4404C>A (p.Phe1468Leu) c.*2723C>A (n.*2723C>A) c.*2391C>A (n.*2391C>A) c.*4927C>A (n.*4927C>A) c.*2346C>A (n.*2346C>A) c.4008C>A (p.Phe1336Leu) n.7472C>A c.4374C>A (p.Phe1458Leu) c.3651C>A (p.Phe1217Leu) c.2202C>A (p.Phe734Leu) | |
2 | g.165380687C>G | CA349034136 | SCN2A | c.4404C>G (p.Phe1468Leu) c.*2723C>G (n.*2723C>G) c.*2391C>G (n.*2391C>G) c.*4927C>G (n.*4927C>G) c.*2346C>G (n.*2346C>G) c.4008C>G (p.Phe1336Leu) n.7472C>G c.4374C>G (p.Phe1458Leu) c.3651C>G (p.Phe1217Leu) c.2202C>G (p.Phe734Leu) | |
2 | g.165380687C>T | CA429888207 | SCN2A | c.4404C>T (p.Phe1468=) c.*2723C>T (n.*2723C>T) c.*2391C>T (n.*2391C>T) c.*4927C>T (n.*4927C>T) c.*2346C>T (n.*2346C>T) c.4008C>T (p.Phe1336=) n.7472C>T c.4374C>T (p.Phe1458=) c.3651C>T (p.Phe1217=) c.2202C>T (p.Phe734=) | ClinVar dbSNP gnomAD v4 |
2 | g.165380688A>C | CA349034143 | SCN2A | c.4405A>C (p.Ile1469Leu) c.*2724A>C (n.*2724A>C) c.*2392A>C (n.*2392A>C) c.*4928A>C (n.*4928A>C) c.*2347A>C (n.*2347A>C) c.4009A>C (p.Ile1337Leu) n.7473A>C c.4375A>C (p.Ile1459Leu) c.3652A>C (p.Ile1218Leu) c.2203A>C (p.Ile735Leu) | |
2 | g.165380688A>G | CA349034144 | SCN2A | c.4405A>G (p.Ile1469Val) c.*2724A>G (n.*2724A>G) c.*2392A>G (n.*2392A>G) c.*4928A>G (n.*4928A>G) c.*2347A>G (n.*2347A>G) c.4009A>G (p.Ile1337Val) n.7473A>G c.4375A>G (p.Ile1459Val) c.3652A>G (p.Ile1218Val) c.2203A>G (p.Ile735Val) | |
2 | g.165380688A>T | CA349034146 | SCN2A | c.4405A>T (p.Ile1469Phe) c.*2724A>T (n.*2724A>T) c.*2392A>T (n.*2392A>T) c.*4928A>T (n.*4928A>T) c.*2347A>T (n.*2347A>T) c.4009A>T (p.Ile1337Phe) n.7473A>T c.4375A>T (p.Ile1459Phe) c.3652A>T (p.Ile1218Phe) c.2203A>T (p.Ile735Phe) | |
2 | g.165380689T>A | CA349034149 | SCN2A | c.4406T>A (p.Ile1469Asn) c.*2725T>A (n.*2725T>A) c.*2393T>A (n.*2393T>A) c.*4929T>A (n.*4929T>A) c.*2348T>A (n.*2348T>A) c.4010T>A (p.Ile1337Asn) n.7474T>A c.4376T>A (p.Ile1459Asn) c.3653T>A (p.Ile1218Asn) c.2204T>A (p.Ile735Asn) | |
2 | g.165380689T>C | CA349034152 | SCN2A | c.4406T>C (p.Ile1469Thr) c.*2725T>C (n.*2725T>C) c.*2393T>C (n.*2393T>C) c.*4929T>C (n.*4929T>C) c.*2348T>C (n.*2348T>C) c.4010T>C (p.Ile1337Thr) n.7474T>C c.4376T>C (p.Ile1459Thr) c.3653T>C (p.Ile1218Thr) c.2204T>C (p.Ile735Thr) | ClinVar |
2 | g.165380689T>G | CA349034155 | SCN2A | c.4406T>G (p.Ile1469Ser) c.*2725T>G (n.*2725T>G) c.*2393T>G (n.*2393T>G) c.*4929T>G (n.*4929T>G) c.*2348T>G (n.*2348T>G) c.4010T>G (p.Ile1337Ser) n.7474T>G c.4376T>G (p.Ile1459Ser) c.3653T>G (p.Ile1218Ser) c.2204T>G (p.Ile735Ser) | |
2 | g.165380690del | CA2580064453 | SCN2A | c.4407del (p.Ile1469MetfsTer5) c.*2726del (n.*2726del) c.*2394del (n.*2394del) c.*4930del (n.*4930del) c.*2349del (n.*2349del) c.4011del (p.Ile1337MetfsTer5) n.7475del c.4377del (p.Ile1459MetfsTer5) c.3654del (p.Ile1218MetfsTer5) c.2205del (p.Ile735MetfsTer5) | ClinVar |
2 | g.165380689_165380692delinsATGT | CA1139657283 | SCN2A | c.4406_4409delinsATGT (p.Ile1469_Gly1470delinsAsnVal) c.*2725_*2728delinsATGT (n.*2725_*2728delinsATGT) c.*2393_*2396delinsATGT (n.*2393_*2396delinsATGT) c.*4929_*4932delinsATGT (n.*4929_*4932delinsATGT) c.*2348_*2351delinsATGT (n.*2348_*2351delinsATGT) c.4010_4013delinsATGT (p.Ile1337_Gly1338delinsAsnVal) n.7474_7477delinsATGT c.4376_4379delinsATGT (p.Ile1459_Gly1460delinsAsnVal) c.3653_3656delinsATGT (p.Ile1218_Gly1219delinsAsnVal) c.2204_2207delinsATGT (p.Ile735_Gly736delinsAsnVal) | ClinVar dbSNP |
2 | g.165380689_165380692delinsTTGG | CA1304561047 | SCN2A | c.4406_4409delinsTTGG (p.Ile1469=) c.*2725_*2728delinsTTGG (n.*2725_*2728delinsTTGG) c.*2393_*2396delinsTTGG (n.*2393_*2396delinsTTGG) c.*4929_*4932delinsTTGG (n.*4929_*4932delinsTTGG) c.*2348_*2351delinsTTGG (n.*2348_*2351delinsTTGG) c.4010_4013delinsTTGG (p.Ile1337=) n.7474_7477delinsTTGG c.4376_4379delinsTTGG (p.Ile1459=) c.3653_3656delinsTTGG (p.Ile1218=) c.2204_2207delinsTTGG (p.Ile735=) | |
2 | g.165380690T>A | CA429888208 | SCN2A | c.4407T>A (p.Ile1469=) c.*2726T>A (n.*2726T>A) c.*2394T>A (n.*2394T>A) c.*4930T>A (n.*4930T>A) c.*2349T>A (n.*2349T>A) c.4011T>A (p.Ile1337=) n.7475T>A c.4377T>A (p.Ile1459=) c.3654T>A (p.Ile1218=) c.2205T>A (p.Ile735=) | |
2 | g.165380690T>C | CA429888209 | SCN2A | c.4407T>C (p.Ile1469=) c.*2726T>C (n.*2726T>C) c.*2394T>C (n.*2394T>C) c.*4930T>C (n.*4930T>C) c.*2349T>C (n.*2349T>C) c.4011T>C (p.Ile1337=) n.7475T>C c.4377T>C (p.Ile1459=) c.3654T>C (p.Ile1218=) c.2205T>C (p.Ile735=) | |
2 | g.165380690T>G | CA349034159 | SCN2A | c.4407T>G (p.Ile1469Met) c.*2726T>G (n.*2726T>G) c.*2394T>G (n.*2394T>G) c.*4930T>G (n.*4930T>G) c.*2349T>G (n.*2349T>G) c.4011T>G (p.Ile1337Met) n.7475T>G c.4377T>G (p.Ile1459Met) c.3654T>G (p.Ile1218Met) c.2205T>G (p.Ile735Met) | |
2 | g.165380691G>A | CA349034162 | SCN2A | c.4408G>A (p.Gly1470Ser) c.*2727G>A (n.*2727G>A) c.*2395G>A (n.*2395G>A) c.*4931G>A (n.*4931G>A) c.*2350G>A (n.*2350G>A) c.4012G>A (p.Gly1338Ser) n.7476G>A c.4378G>A (p.Gly1460Ser) c.3655G>A (p.Gly1219Ser) c.2206G>A (p.Gly736Ser) | |
2 | g.165380691G>C | CA349034164 | SCN2A | c.4408G>C (p.Gly1470Arg) c.*2727G>C (n.*2727G>C) c.*2395G>C (n.*2395G>C) c.*4931G>C (n.*4931G>C) c.*2350G>C (n.*2350G>C) c.4012G>C (p.Gly1338Arg) n.7476G>C c.4378G>C (p.Gly1460Arg) c.3655G>C (p.Gly1219Arg) c.2206G>C (p.Gly736Arg) | |
2 | g.165380691G>T | CA349034166 | SCN2A | c.4408G>T (p.Gly1470Cys) c.*2727G>T (n.*2727G>T) c.*2395G>T (n.*2395G>T) c.*4931G>T (n.*4931G>T) c.*2350G>T (n.*2350G>T) c.4012G>T (p.Gly1338Cys) n.7476G>T c.4378G>T (p.Gly1460Cys) c.3655G>T (p.Gly1219Cys) c.2206G>T (p.Gly736Cys) | |
2 | g.165380692G>A | CA1940272 | SCN2A | c.4409G>A (p.Gly1470Asp) c.*2728G>A (n.*2728G>A) c.*2396G>A (n.*2396G>A) c.*4932G>A (n.*4932G>A) c.*2351G>A (n.*2351G>A) c.4013G>A (p.Gly1338Asp) n.7477G>A c.4379G>A (p.Gly1460Asp) c.3656G>A (p.Gly1219Asp) c.2207G>A (p.Gly736Asp) | dbSNP ExAC gnomAD v2 |
2 | g.165380692G>C | CA349034174 | SCN2A | c.4409G>C (p.Gly1470Ala) c.*2728G>C (n.*2728G>C) c.*2396G>C (n.*2396G>C) c.*4932G>C (n.*4932G>C) c.*2351G>C (n.*2351G>C) c.4013G>C (p.Gly1338Ala) n.7477G>C c.4379G>C (p.Gly1460Ala) c.3656G>C (p.Gly1219Ala) c.2207G>C (p.Gly736Ala) | |
2 | g.165380692G= | CA1304561048 | SCN2A | c.4409G= (p.Gly1470=) c.*2728G= (n.*2728G=) c.*2396G= (n.*2396G=) c.*4932G= (n.*4932G=) c.*2351G= (n.*2351G=) c.4013G= (p.Gly1338=) n.7477G= c.4379G= (p.Gly1460=) c.3656G= (p.Gly1219=) c.2207G= (p.Gly736=) | |
2 | g.165380692G>T | CA59746463 | SCN2A | c.4409G>T (p.Gly1470Val) c.*2728G>T (n.*2728G>T) c.*2396G>T (n.*2396G>T) c.*4932G>T (n.*4932G>T) c.*2351G>T (n.*2351G>T) c.4013G>T (p.Gly1338Val) n.7477G>T c.4379G>T (p.Gly1460Val) c.3656G>T (p.Gly1219Val) c.2207G>T (p.Gly736Val) | dbSNP gnomAD v4 |
2 | g.165380693T>A | CA429888210 | SCN2A | c.4410T>A (p.Gly1470=) c.*2729T>A (n.*2729T>A) c.*2397T>A (n.*2397T>A) c.*4933T>A (n.*4933T>A) c.*2352T>A (n.*2352T>A) c.4014T>A (p.Gly1338=) n.7478T>A c.4380T>A (p.Gly1460=) c.3657T>A (p.Gly1219=) c.2208T>A (p.Gly736=) | |
2 | g.165380693T>C | CA429888211 | SCN2A | c.4410T>C (p.Gly1470=) c.*2729T>C (n.*2729T>C) c.*2397T>C (n.*2397T>C) c.*4933T>C (n.*4933T>C) c.*2352T>C (n.*2352T>C) c.4014T>C (p.Gly1338=) n.7478T>C c.4380T>C (p.Gly1460=) c.3657T>C (p.Gly1219=) c.2208T>C (p.Gly736=) | |
2 | g.165380693T>G | CA429888212 | SCN2A | c.4410T>G (p.Gly1470=) c.*2729T>G (n.*2729T>G) c.*2397T>G (n.*2397T>G) c.*4933T>G (n.*4933T>G) c.*2352T>G (n.*2352T>G) c.4014T>G (p.Gly1338=) n.7478T>G c.4380T>G (p.Gly1460=) c.3657T>G (p.Gly1219=) c.2208T>G (p.Gly736=) | |
2 | g.165380694G>A | CA349034176 | SCN2A | c.4411G>A (p.Val1471Ile) c.*2730G>A (n.*2730G>A) c.*2398G>A (n.*2398G>A) c.*4934G>A (n.*4934G>A) c.*2353G>A (n.*2353G>A) c.4015G>A (p.Val1339Ile) n.7479G>A c.4381G>A (p.Val1461Ile) c.3658G>A (p.Val1220Ile) c.2209G>A (p.Val737Ile) | gnomAD v4 |
2 | g.165380694G>C | CA349034179 | SCN2A | c.4411G>C (p.Val1471Leu) c.*2730G>C (n.*2730G>C) c.*2398G>C (n.*2398G>C) c.*4934G>C (n.*4934G>C) c.*2353G>C (n.*2353G>C) c.4015G>C (p.Val1339Leu) n.7479G>C c.4381G>C (p.Val1461Leu) c.3658G>C (p.Val1220Leu) c.2209G>C (p.Val737Leu) | |
2 | g.165380694G>T | CA349034182 | SCN2A | c.4411G>T (p.Val1471Phe) c.*2730G>T (n.*2730G>T) c.*2398G>T (n.*2398G>T) c.*4934G>T (n.*4934G>T) c.*2353G>T (n.*2353G>T) c.4015G>T (p.Val1339Phe) n.7479G>T c.4381G>T (p.Val1461Phe) c.3658G>T (p.Val1220Phe) c.2209G>T (p.Val737Phe) | |
2 | g.165380695T>A | CA349034186 | SCN2A | c.4412T>A (p.Val1471Asp) c.*2731T>A (n.*2731T>A) c.*2399T>A (n.*2399T>A) c.*4935T>A (n.*4935T>A) c.*2354T>A (n.*2354T>A) c.4016T>A (p.Val1339Asp) n.7480T>A c.4382T>A (p.Val1461Asp) c.3659T>A (p.Val1220Asp) c.2210T>A (p.Val737Asp) | |
2 | g.165380695T>C | CA349034188 | SCN2A | c.4412T>C (p.Val1471Ala) c.*2731T>C (n.*2731T>C) c.*2399T>C (n.*2399T>C) c.*4935T>C (n.*4935T>C) c.*2354T>C (n.*2354T>C) c.4016T>C (p.Val1339Ala) n.7480T>C c.4382T>C (p.Val1461Ala) c.3659T>C (p.Val1220Ala) c.2210T>C (p.Val737Ala) | |
2 | g.165380695T>G | CA349034191 | SCN2A | c.4412T>G (p.Val1471Gly) c.*2731T>G (n.*2731T>G) c.*2399T>G (n.*2399T>G) c.*4935T>G (n.*4935T>G) c.*2354T>G (n.*2354T>G) c.4016T>G (p.Val1339Gly) n.7480T>G c.4382T>G (p.Val1461Gly) c.3659T>G (p.Val1220Gly) c.2210T>G (p.Val737Gly) | |
2 | g.165380696C>A | CA429888213 | SCN2A | c.4413C>A (p.Val1471=) c.*2732C>A (n.*2732C>A) c.*2400C>A (n.*2400C>A) c.*4936C>A (n.*4936C>A) c.*2355C>A (n.*2355C>A) c.4017C>A (p.Val1339=) n.7481C>A c.4383C>A (p.Val1461=) c.3660C>A (p.Val1220=) c.2211C>A (p.Val737=) | gnomAD v4 |
2 | g.165380696C>G | CA429888214 | SCN2A | c.4413C>G (p.Val1471=) c.*2732C>G (n.*2732C>G) c.*2400C>G (n.*2400C>G) c.*4936C>G (n.*4936C>G) c.*2355C>G (n.*2355C>G) c.4017C>G (p.Val1339=) n.7481C>G c.4383C>G (p.Val1461=) c.3660C>G (p.Val1220=) c.2211C>G (p.Val737=) | |
2 | g.165380696C>T | CA429888215 | SCN2A | c.4413C>T (p.Val1471=) c.*2732C>T (n.*2732C>T) c.*2400C>T (n.*2400C>T) c.*4936C>T (n.*4936C>T) c.*2355C>T (n.*2355C>T) c.4017C>T (p.Val1339=) n.7481C>T c.4383C>T (p.Val1461=) c.3660C>T (p.Val1220=) c.2211C>T (p.Val737=) | |
2 | g.165380697A= | CA1304561049 | SCN2A | c.4414A= (p.Ile1472=) c.*2733A= (n.*2733A=) c.*2401A= (n.*2401A=) c.*4937A= (n.*4937A=) c.*2356A= (n.*2356A=) c.4018A= (p.Ile1340=) n.7482A= c.4384A= (p.Ile1462=) c.3661A= (p.Ile1221=) c.2212A= (p.Ile738=) | |
2 | g.165380697A>C | CA349034195 | SCN2A | c.4414A>C (p.Ile1472Leu) c.*2733A>C (n.*2733A>C) c.*2401A>C (n.*2401A>C) c.*4937A>C (n.*4937A>C) c.*2356A>C (n.*2356A>C) c.4018A>C (p.Ile1340Leu) n.7482A>C c.4384A>C (p.Ile1462Leu) c.3661A>C (p.Ile1221Leu) c.2212A>C (p.Ile738Leu) | |
2 | g.165380697A>G | CA1940273 | SCN2A | c.4414A>G (p.Ile1472Val) c.*2733A>G (n.*2733A>G) c.*2401A>G (n.*2401A>G) c.*4937A>G (n.*4937A>G) c.*2356A>G (n.*2356A>G) c.4018A>G (p.Ile1340Val) n.7482A>G c.4384A>G (p.Ile1462Val) c.3661A>G (p.Ile1221Val) c.2212A>G (p.Ile738Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165380697A>T | CA349034197 | SCN2A | c.4414A>T (p.Ile1472Phe) c.*2733A>T (n.*2733A>T) c.*2401A>T (n.*2401A>T) c.*4937A>T (n.*4937A>T) c.*2356A>T (n.*2356A>T) c.4018A>T (p.Ile1340Phe) n.7482A>T c.4384A>T (p.Ile1462Phe) c.3661A>T (p.Ile1221Phe) c.2212A>T (p.Ile738Phe) | |
2 | g.165380698T>A | CA349034202 | SCN2A | c.4415T>A (p.Ile1472Asn) c.*2734T>A (n.*2734T>A) c.*2402T>A (n.*2402T>A) c.*4938T>A (n.*4938T>A) c.*2357T>A (n.*2357T>A) c.4019T>A (p.Ile1340Asn) n.7483T>A c.4385T>A (p.Ile1462Asn) c.3662T>A (p.Ile1221Asn) c.2213T>A (p.Ile738Asn) | |
2 | g.165380698T>C | CA349034205 | SCN2A | c.4415T>C (p.Ile1472Thr) c.*2734T>C (n.*2734T>C) c.*2402T>C (n.*2402T>C) c.*4938T>C (n.*4938T>C) c.*2357T>C (n.*2357T>C) c.4019T>C (p.Ile1340Thr) n.7483T>C c.4385T>C (p.Ile1462Thr) c.3662T>C (p.Ile1221Thr) c.2213T>C (p.Ile738Thr) | |
2 | g.165380698T>G | CA349034208 | SCN2A | c.4415T>G (p.Ile1472Ser) c.*2734T>G (n.*2734T>G) c.*2402T>G (n.*2402T>G) c.*4938T>G (n.*4938T>G) c.*2357T>G (n.*2357T>G) c.4019T>G (p.Ile1340Ser) n.7483T>G c.4385T>G (p.Ile1462Ser) c.3662T>G (p.Ile1221Ser) c.2213T>G (p.Ile738Ser) | |
2 | g.165380699C>A | CA429888217 | SCN2A | c.4416C>A (p.Ile1472=) c.*2735C>A (n.*2735C>A) c.*2403C>A (n.*2403C>A) c.*4939C>A (n.*4939C>A) c.*2358C>A (n.*2358C>A) c.4020C>A (p.Ile1340=) n.7484C>A c.4386C>A (p.Ile1462=) c.3663C>A (p.Ile1221=) c.2214C>A (p.Ile738=) | gnomAD v4 |
2 | g.165380699C>G | CA349034210 | SCN2A | c.4416C>G (p.Ile1472Met) c.*2735C>G (n.*2735C>G) c.*2403C>G (n.*2403C>G) c.*4939C>G (n.*4939C>G) c.*2358C>G (n.*2358C>G) c.4020C>G (p.Ile1340Met) n.7484C>G c.4386C>G (p.Ile1462Met) c.3663C>G (p.Ile1221Met) c.2214C>G (p.Ile738Met) | |
2 | g.165380699C>T | CA429888216 | SCN2A | c.4416C>T (p.Ile1472=) c.*2735C>T (n.*2735C>T) c.*2403C>T (n.*2403C>T) c.*4939C>T (n.*4939C>T) c.*2358C>T (n.*2358C>T) c.4020C>T (p.Ile1340=) n.7484C>T c.4386C>T (p.Ile1462=) c.3663C>T (p.Ile1221=) c.2214C>T (p.Ile738=) | |
2 | g.165380700A>C | CA349034213 | SCN2A | c.4417A>C (p.Ile1473Leu) c.*2736A>C (n.*2736A>C) c.*2404A>C (n.*2404A>C) c.*4940A>C (n.*4940A>C) c.*2359A>C (n.*2359A>C) c.4021A>C (p.Ile1341Leu) n.7485A>C c.4387A>C (p.Ile1463Leu) c.3664A>C (p.Ile1222Leu) c.2215A>C (p.Ile739Leu) | |
2 | g.165380700A>G | CA349034219 | SCN2A | c.4417A>G (p.Ile1473Val) c.*2736A>G (n.*2736A>G) c.*2404A>G (n.*2404A>G) c.*4940A>G (n.*4940A>G) c.*2359A>G (n.*2359A>G) c.4021A>G (p.Ile1341Val) n.7485A>G c.4387A>G (p.Ile1463Val) c.3664A>G (p.Ile1222Val) c.2215A>G (p.Ile739Val) | |
2 | g.165380700A>T | CA349034216 | SCN2A | c.4417A>T (p.Ile1473Leu) c.*2736A>T (n.*2736A>T) c.*2404A>T (n.*2404A>T) c.*4940A>T (n.*4940A>T) c.*2359A>T (n.*2359A>T) c.4021A>T (p.Ile1341Leu) n.7485A>T c.4387A>T (p.Ile1463Leu) c.3664A>T (p.Ile1222Leu) c.2215A>T (p.Ile739Leu) | |
2 | g.165380701T>A | CA349034222 | SCN2A | c.4418T>A (p.Ile1473Lys) c.*2737T>A (n.*2737T>A) c.*2405T>A (n.*2405T>A) c.*4941T>A (n.*4941T>A) c.*2360T>A (n.*2360T>A) c.4022T>A (p.Ile1341Lys) n.7486T>A c.4388T>A (p.Ile1463Lys) c.3665T>A (p.Ile1222Lys) c.2216T>A (p.Ile739Lys) | |
2 | g.165380701T>C | CA349034225 | SCN2A | c.4418T>C (p.Ile1473Thr) c.*2737T>C (n.*2737T>C) c.*2405T>C (n.*2405T>C) c.*4941T>C (n.*4941T>C) c.*2360T>C (n.*2360T>C) c.4022T>C (p.Ile1341Thr) n.7486T>C c.4388T>C (p.Ile1463Thr) c.3665T>C (p.Ile1222Thr) c.2216T>C (p.Ile739Thr) | ClinVar dbSNP gnomAD v4 |
2 | g.165380701T>G | CA349034228 | SCN2A | c.4418T>G (p.Ile1473Arg) c.*2737T>G (n.*2737T>G) c.*2405T>G (n.*2405T>G) c.*4941T>G (n.*4941T>G) c.*2360T>G (n.*2360T>G) c.4022T>G (p.Ile1341Arg) n.7486T>G c.4388T>G (p.Ile1463Arg) c.3665T>G (p.Ile1222Arg) c.2216T>G (p.Ile739Arg) | |
2 | g.165380701T= | CA1304561050 | SCN2A | c.4418T= (p.Ile1473=) c.*2737T= (n.*2737T=) c.*2405T= (n.*2405T=) c.*4941T= (n.*4941T=) c.*2360T= (n.*2360T=) c.4022T= (p.Ile1341=) n.7486T= c.4388T= (p.Ile1463=) c.3665T= (p.Ile1222=) c.2216T= (p.Ile739=) | |
2 | g.165380702A= | CA1304561051 | SCN2A | c.4419A= (p.Ile1473=) c.*2738A= (n.*2738A=) c.*2406A= (n.*2406A=) c.*4942A= (n.*4942A=) c.*2361A= (n.*2361A=) c.4023A= (p.Ile1341=) n.7487A= c.4389A= (p.Ile1463=) c.3666A= (p.Ile1222=) c.2217A= (p.Ile739=) | |
2 | g.165380702A>C | CA429888218 | SCN2A | c.4419A>C (p.Ile1473=) c.*2738A>C (n.*2738A>C) c.*2406A>C (n.*2406A>C) c.*4942A>C (n.*4942A>C) c.*2361A>C (n.*2361A>C) c.4023A>C (p.Ile1341=) n.7487A>C c.4389A>C (p.Ile1463=) c.3666A>C (p.Ile1222=) c.2217A>C (p.Ile739=) | dbSNP |
2 | g.165380702A>G | CA128710 | SCN2A | c.4419A>G (p.Ile1473Met) c.*2738A>G (n.*2738A>G) c.*2406A>G (n.*2406A>G) c.*4942A>G (n.*4942A>G) c.*2361A>G (n.*2361A>G) c.4023A>G (p.Ile1341Met) n.7487A>G c.4389A>G (p.Ile1463Met) c.3666A>G (p.Ile1222Met) c.2217A>G (p.Ile739Met) | ClinVar dbSNP |
2 | g.165380702A>T | CA429888219 | SCN2A | c.4419A>T (p.Ile1473=) c.*2738A>T (n.*2738A>T) c.*2406A>T (n.*2406A>T) c.*4942A>T (n.*4942A>T) c.*2361A>T (n.*2361A>T) c.4023A>T (p.Ile1341=) n.7487A>T c.4389A>T (p.Ile1463=) c.3666A>T (p.Ile1222=) c.2217A>T (p.Ile739=) | |
2 | g.165380703G>A | CA349034232 | SCN2A | c.4420G>A (p.Asp1474Asn) c.*2739G>A (n.*2739G>A) c.*2407G>A (n.*2407G>A) c.*4943G>A (n.*4943G>A) c.*2362G>A (n.*2362G>A) c.4024G>A (p.Asp1342Asn) n.7488G>A c.4390G>A (p.Asp1464Asn) c.3667G>A (p.Asp1223Asn) c.2218G>A (p.Asp740Asn) | |
2 | g.165380703G>C | CA349034235 | SCN2A | c.4420G>C (p.Asp1474His) c.*2739G>C (n.*2739G>C) c.*2407G>C (n.*2407G>C) c.*4943G>C (n.*4943G>C) c.*2362G>C (n.*2362G>C) c.4024G>C (p.Asp1342His) n.7488G>C c.4390G>C (p.Asp1464His) c.3667G>C (p.Asp1223His) c.2218G>C (p.Asp740His) | |
2 | g.165380703G>T | CA349034237 | SCN2A | c.4420G>T (p.Asp1474Tyr) c.*2739G>T (n.*2739G>T) c.*2407G>T (n.*2407G>T) c.*4943G>T (n.*4943G>T) c.*2362G>T (n.*2362G>T) c.4024G>T (p.Asp1342Tyr) n.7488G>T c.4390G>T (p.Asp1464Tyr) c.3667G>T (p.Asp1223Tyr) c.2218G>T (p.Asp740Tyr) | |
2 | g.165380704A>C | CA349034240 | SCN2A | c.4421A>C (p.Asp1474Ala) c.*2740A>C (n.*2740A>C) c.*2408A>C (n.*2408A>C) c.*4944A>C (n.*4944A>C) c.*2363A>C (n.*2363A>C) c.4025A>C (p.Asp1342Ala) n.7489A>C c.4391A>C (p.Asp1464Ala) c.3668A>C (p.Asp1223Ala) c.2219A>C (p.Asp740Ala) | |
2 | g.165380704A>G | CA349034248 | SCN2A | c.4421A>G (p.Asp1474Gly) c.*2740A>G (n.*2740A>G) c.*2408A>G (n.*2408A>G) c.*4944A>G (n.*4944A>G) c.*2363A>G (n.*2363A>G) c.4025A>G (p.Asp1342Gly) n.7489A>G c.4391A>G (p.Asp1464Gly) c.3668A>G (p.Asp1223Gly) c.2219A>G (p.Asp740Gly) | |
2 | g.165380704A>T | CA349034250 | SCN2A | c.4421A>T (p.Asp1474Val) c.*2740A>T (n.*2740A>T) c.*2408A>T (n.*2408A>T) c.*4944A>T (n.*4944A>T) c.*2363A>T (n.*2363A>T) c.4025A>T (p.Asp1342Val) n.7489A>T c.4391A>T (p.Asp1464Val) c.3668A>T (p.Asp1223Val) c.2219A>T (p.Asp740Val) | |
2 | g.165380705T>A | CA349034252 | SCN2A | c.4422T>A (p.Asp1474Glu) c.*2741T>A (n.*2741T>A) c.*2409T>A (n.*2409T>A) c.*4945T>A (n.*4945T>A) c.*2364T>A (n.*2364T>A) c.4026T>A (p.Asp1342Glu) n.7490T>A c.4392T>A (p.Asp1464Glu) c.3669T>A (p.Asp1223Glu) c.2220T>A (p.Asp740Glu) | |
2 | g.165380705T>C | CA429888220 | SCN2A | c.4422T>C (p.Asp1474=) c.*2741T>C (n.*2741T>C) c.*2409T>C (n.*2409T>C) c.*4945T>C (n.*4945T>C) c.*2364T>C (n.*2364T>C) c.4026T>C (p.Asp1342=) n.7490T>C c.4392T>C (p.Asp1464=) c.3669T>C (p.Asp1223=) c.2220T>C (p.Asp740=) | gnomAD v4 |
2 | g.165380705T>G | CA349034253 | SCN2A | c.4422T>G (p.Asp1474Glu) c.*2741T>G (n.*2741T>G) c.*2409T>G (n.*2409T>G) c.*4945T>G (n.*4945T>G) c.*2364T>G (n.*2364T>G) c.4026T>G (p.Asp1342Glu) n.7490T>G c.4392T>G (p.Asp1464Glu) c.3669T>G (p.Asp1223Glu) c.2220T>G (p.Asp740Glu) | |
2 | g.165380706A>C | CA349034258 | SCN2A | c.4423A>C (p.Asn1475His) c.*2742A>C (n.*2742A>C) c.*2410A>C (n.*2410A>C) c.*4946A>C (n.*4946A>C) c.*2365A>C (n.*2365A>C) c.4027A>C (p.Asn1343His) n.7491A>C c.4393A>C (p.Asn1465His) c.3670A>C (p.Asn1224His) c.2221A>C (p.Asn741His) | |
2 | g.165380706A>G | CA349034259 | SCN2A | c.4423A>G (p.Asn1475Asp) c.*2742A>G (n.*2742A>G) c.*2410A>G (n.*2410A>G) c.*4946A>G (n.*4946A>G) c.*2365A>G (n.*2365A>G) c.4027A>G (p.Asn1343Asp) n.7491A>G c.4393A>G (p.Asn1465Asp) c.3670A>G (p.Asn1224Asp) c.2221A>G (p.Asn741Asp) | |
2 | g.165380706A>T | CA349034255 | SCN2A | c.4423A>T (p.Asn1475Tyr) c.*2742A>T (n.*2742A>T) c.*2410A>T (n.*2410A>T) c.*4946A>T (n.*4946A>T) c.*2365A>T (n.*2365A>T) c.4027A>T (p.Asn1343Tyr) n.7491A>T c.4393A>T (p.Asn1465Tyr) c.3670A>T (p.Asn1224Tyr) c.2221A>T (p.Asn741Tyr) | |
2 | g.165380707A>C | CA349034262 | SCN2A | c.4424A>C (p.Asn1475Thr) c.*2743A>C (n.*2743A>C) c.*2411A>C (n.*2411A>C) c.*4947A>C (n.*4947A>C) c.*2366A>C (n.*2366A>C) c.4028A>C (p.Asn1343Thr) n.7492A>C c.4394A>C (p.Asn1465Thr) c.3671A>C (p.Asn1224Thr) c.2222A>C (p.Asn741Thr) | |
2 | g.165380707A>G | CA349034265 | SCN2A | c.4424A>G (p.Asn1475Ser) c.*2743A>G (n.*2743A>G) c.*2411A>G (n.*2411A>G) c.*4947A>G (n.*4947A>G) c.*2366A>G (n.*2366A>G) c.4028A>G (p.Asn1343Ser) n.7492A>G c.4394A>G (p.Asn1465Ser) c.3671A>G (p.Asn1224Ser) c.2222A>G (p.Asn741Ser) | COSMIC COSMIC |
2 | g.165380707A>T | CA349034268 | SCN2A | c.4424A>T (p.Asn1475Ile) c.*2743A>T (n.*2743A>T) c.*2411A>T (n.*2411A>T) c.*4947A>T (n.*4947A>T) c.*2366A>T (n.*2366A>T) c.4028A>T (p.Asn1343Ile) n.7492A>T c.4394A>T (p.Asn1465Ile) c.3671A>T (p.Asn1224Ile) c.2222A>T (p.Asn741Ile) | |
2 | g.165380708C>A | CA349034269 | SCN2A | c.4425C>A (p.Asn1475Lys) c.*2744C>A (n.*2744C>A) c.*2412C>A (n.*2412C>A) c.*4948C>A (n.*4948C>A) c.*2367C>A (n.*2367C>A) c.4029C>A (p.Asn1343Lys) n.7493C>A c.4395C>A (p.Asn1465Lys) c.3672C>A (p.Asn1224Lys) c.2223C>A (p.Asn741Lys) | gnomAD v4 |
2 | g.165380708C>G | CA349034271 | SCN2A | c.4425C>G (p.Asn1475Lys) c.*2744C>G (n.*2744C>G) c.*2412C>G (n.*2412C>G) c.*4948C>G (n.*4948C>G) c.*2367C>G (n.*2367C>G) c.4029C>G (p.Asn1343Lys) n.7493C>G c.4395C>G (p.Asn1465Lys) c.3672C>G (p.Asn1224Lys) c.2223C>G (p.Asn741Lys) | ClinVar |
2 | g.165380708C>T | CA429888221 | SCN2A | c.4425C>T (p.Asn1475=) c.*2744C>T (n.*2744C>T) c.*2412C>T (n.*2412C>T) c.*4948C>T (n.*4948C>T) c.*2367C>T (n.*2367C>T) c.4029C>T (p.Asn1343=) n.7493C>T c.4395C>T (p.Asn1465=) c.3672C>T (p.Asn1224=) c.2223C>T (p.Asn741=) | |
2 | g.165380709T>A | CA349034281 | SCN2A | c.4426T>A (p.Phe1476Ile) c.*2745T>A (n.*2745T>A) c.*2413T>A (n.*2413T>A) c.*4949T>A (n.*4949T>A) c.*2368T>A (n.*2368T>A) c.4030T>A (p.Phe1344Ile) n.7494T>A c.4396T>A (p.Phe1466Ile) c.3673T>A (p.Phe1225Ile) c.2224T>A (p.Phe742Ile) | ClinVar |
2 | g.165380709T>C | CA349034275 | SCN2A | c.4426T>C (p.Phe1476Leu) c.*2745T>C (n.*2745T>C) c.*2413T>C (n.*2413T>C) c.*4949T>C (n.*4949T>C) c.*2368T>C (n.*2368T>C) c.4030T>C (p.Phe1344Leu) n.7494T>C c.4396T>C (p.Phe1466Leu) c.3673T>C (p.Phe1225Leu) c.2224T>C (p.Phe742Leu) | ClinVar |
2 | g.165380709T>G | CA349034276 | SCN2A | c.4426T>G (p.Phe1476Val) c.*2745T>G (n.*2745T>G) c.*2413T>G (n.*2413T>G) c.*4949T>G (n.*4949T>G) c.*2368T>G (n.*2368T>G) c.4030T>G (p.Phe1344Val) n.7494T>G c.4396T>G (p.Phe1466Val) c.3673T>G (p.Phe1225Val) c.2224T>G (p.Phe742Val) | |
2 | g.165380710T>A | CA349034294 | SCN2A | c.4427T>A (p.Phe1476Tyr) c.*2746T>A (n.*2746T>A) c.*2414T>A (n.*2414T>A) c.*4950T>A (n.*4950T>A) c.*2369T>A (n.*2369T>A) c.4031T>A (p.Phe1344Tyr) n.7495T>A c.4397T>A (p.Phe1466Tyr) c.3674T>A (p.Phe1225Tyr) c.2225T>A (p.Phe742Tyr) | |
2 | g.165380710T>C | CA349034296 | SCN2A | c.4427T>C (p.Phe1476Ser) c.*2746T>C (n.*2746T>C) c.*2414T>C (n.*2414T>C) c.*4950T>C (n.*4950T>C) c.*2369T>C (n.*2369T>C) c.4031T>C (p.Phe1344Ser) n.7495T>C c.4397T>C (p.Phe1466Ser) c.3674T>C (p.Phe1225Ser) c.2225T>C (p.Phe742Ser) | |
2 | g.165380710T>G | CA349034299 | SCN2A | c.4427T>G (p.Phe1476Cys) c.*2746T>G (n.*2746T>G) c.*2414T>G (n.*2414T>G) c.*4950T>G (n.*4950T>G) c.*2369T>G (n.*2369T>G) c.4031T>G (p.Phe1344Cys) n.7495T>G c.4397T>G (p.Phe1466Cys) c.3674T>G (p.Phe1225Cys) c.2225T>G (p.Phe742Cys) | |
2 | g.165380711C>A | CA349034303 | SCN2A | c.4428C>A (p.Phe1476Leu) c.*2747C>A (n.*2747C>A) c.*2415C>A (n.*2415C>A) c.*4951C>A (n.*4951C>A) c.*2370C>A (n.*2370C>A) c.4032C>A (p.Phe1344Leu) n.7496C>A c.4398C>A (p.Phe1466Leu) c.3675C>A (p.Phe1225Leu) c.2226C>A (p.Phe742Leu) | gnomAD v4 |
2 | g.165380711C>G | CA349034305 | SCN2A | c.4428C>G (p.Phe1476Leu) c.*2747C>G (n.*2747C>G) c.*2415C>G (n.*2415C>G) c.*4951C>G (n.*4951C>G) c.*2370C>G (n.*2370C>G) c.4032C>G (p.Phe1344Leu) n.7496C>G c.4398C>G (p.Phe1466Leu) c.3675C>G (p.Phe1225Leu) c.2226C>G (p.Phe742Leu) | |
2 | g.165380711C>T | CA429888222 | SCN2A | c.4428C>T (p.Phe1476=) c.*2747C>T (n.*2747C>T) c.*2415C>T (n.*2415C>T) c.*4951C>T (n.*4951C>T) c.*2370C>T (n.*2370C>T) c.4032C>T (p.Phe1344=) n.7496C>T c.4398C>T (p.Phe1466=) c.3675C>T (p.Phe1225=) c.2226C>T (p.Phe742=) | ClinVar |
2 | g.165380712A>C | CA349034313 | SCN2A | c.4429A>C (p.Asn1477His) c.*2748A>C (n.*2748A>C) c.*2416A>C (n.*2416A>C) c.*4952A>C (n.*4952A>C) c.*2371A>C (n.*2371A>C) c.4033A>C (p.Asn1345His) n.7497A>C c.4399A>C (p.Asn1467His) c.3676A>C (p.Asn1226His) c.2227A>C (p.Asn743His) | |
2 | g.165380712A>G | CA349034308 | SCN2A | c.4429A>G (p.Asn1477Asp) c.*2748A>G (n.*2748A>G) c.*2416A>G (n.*2416A>G) c.*4952A>G (n.*4952A>G) c.*2371A>G (n.*2371A>G) c.4033A>G (p.Asn1345Asp) n.7497A>G c.4399A>G (p.Asn1467Asp) c.3676A>G (p.Asn1226Asp) c.2227A>G (p.Asn743Asp) | gnomAD v4 |
2 | g.165380712A>T | CA349034311 | SCN2A | c.4429A>T (p.Asn1477Tyr) c.*2748A>T (n.*2748A>T) c.*2416A>T (n.*2416A>T) c.*4952A>T (n.*4952A>T) c.*2371A>T (n.*2371A>T) c.4033A>T (p.Asn1345Tyr) n.7497A>T c.4399A>T (p.Asn1467Tyr) c.3676A>T (p.Asn1226Tyr) c.2227A>T (p.Asn743Tyr) | |
2 | g.165380713A= | CA1304561052 | SCN2A | c.4430A= (p.Asn1477=) c.*2749A= (n.*2749A=) c.*2417A= (n.*2417A=) c.*4953A= (n.*4953A=) c.*2372A= (n.*2372A=) c.4034A= (p.Asn1345=) n.7498A= c.4400A= (p.Asn1467=) c.3677A= (p.Asn1226=) c.2228A= (p.Asn743=) | |
2 | g.165380713A>C | CA349034316 | SCN2A | c.4430A>C (p.Asn1477Thr) c.*2749A>C (n.*2749A>C) c.*2417A>C (n.*2417A>C) c.*4953A>C (n.*4953A>C) c.*2372A>C (n.*2372A>C) c.4034A>C (p.Asn1345Thr) n.7498A>C c.4400A>C (p.Asn1467Thr) c.3677A>C (p.Asn1226Thr) c.2228A>C (p.Asn743Thr) | |
2 | g.165380713A>G | CA349034318 | SCN2A | c.4430A>G (p.Asn1477Ser) c.*2749A>G (n.*2749A>G) c.*2417A>G (n.*2417A>G) c.*4953A>G (n.*4953A>G) c.*2372A>G (n.*2372A>G) c.4034A>G (p.Asn1345Ser) n.7498A>G c.4400A>G (p.Asn1467Ser) c.3677A>G (p.Asn1226Ser) c.2228A>G (p.Asn743Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.165380713A>T | CA349034320 | SCN2A | c.4430A>T (p.Asn1477Ile) c.*2749A>T (n.*2749A>T) c.*2417A>T (n.*2417A>T) c.*4953A>T (n.*4953A>T) c.*2372A>T (n.*2372A>T) c.4034A>T (p.Asn1345Ile) n.7498A>T c.4400A>T (p.Asn1467Ile) c.3677A>T (p.Asn1226Ile) c.2228A>T (p.Asn743Ile) |