Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.165386730_165386733delinsATAT | CA1304563727 | SCN2A | c.4552-16_4552-13delinsATAT (n.4552-16_4552-13delinsATAT) c.*2871-16_*2871-13delinsATAT (n.*2871-16_*2871-13delinsATAT) c.*2539-16_*2539-13delinsATAT (n.*2539-16_*2539-13delinsATAT) c.*5075-16_*5075-13delinsATAT (n.*5075-16_*5075-13delinsATAT) c.*2494-16_*2494-13delinsATAT (n.*2494-16_*2494-13delinsATAT) c.4156-16_4156-13delinsATAT (n.4156-16_4156-13delinsATAT) n.7983-16_7983-13delinsATAT c.4522-16_4522-13delinsATAT (n.4522-16_4522-13delinsATAT) c.3799-16_3799-13delinsATAT (n.3799-16_3799-13delinsATAT) c.2350-16_2350-13delinsATAT (n.2350-16_2350-13delinsATAT) | |
2 | g.165386735_165386737del | CA1304563728 | SCN2A | c.4552-11_4552-9del (n.4552-11_4552-9del) c.*2871-11_*2871-9del (n.*2871-11_*2871-9del) c.*2539-11_*2539-9del (n.*2539-11_*2539-9del) c.*5075-11_*5075-9del (n.*5075-11_*5075-9del) c.*2494-11_*2494-9del (n.*2494-11_*2494-9del) c.4156-11_4156-9del (n.4156-11_4156-9del) n.7983-11_7983-9del c.4522-11_4522-9del (n.4522-11_4522-9del) c.3799-11_3799-9del (n.3799-11_3799-9del) c.2350-11_2350-9del (n.2350-11_2350-9del) | dbSNP |
2 | g.165386734T>A | CA2577142979 | SCN2A | c.4552-12T>A (n.4552-12T>A) c.*2871-12T>A (n.*2871-12T>A) c.*2539-12T>A (n.*2539-12T>A) c.*5075-12T>A (n.*5075-12T>A) c.*2494-12T>A (n.*2494-12T>A) c.4156-12T>A (n.4156-12T>A) n.7983-12T>A c.4522-12T>A (n.4522-12T>A) c.3799-12T>A (n.3799-12T>A) c.2350-12T>A (n.2350-12T>A) | |
2 | g.165386734T>C | CA2740095820 | SCN2A | c.4552-12T>C (n.4552-12T>C) c.*2871-12T>C (n.*2871-12T>C) c.*2539-12T>C (n.*2539-12T>C) c.*5075-12T>C (n.*5075-12T>C) c.*2494-12T>C (n.*2494-12T>C) c.4156-12T>C (n.4156-12T>C) n.7983-12T>C c.4522-12T>C (n.4522-12T>C) c.3799-12T>C (n.3799-12T>C) c.2350-12T>C (n.2350-12T>C) | ClinVar |
2 | g.165386736T>C | CA2740095821 | SCN2A | c.4552-10T>C (n.4552-10T>C) c.*2871-10T>C (n.*2871-10T>C) c.*2539-10T>C (n.*2539-10T>C) c.*5075-10T>C (n.*5075-10T>C) c.*2494-10T>C (n.*2494-10T>C) c.4156-10T>C (n.4156-10T>C) n.7983-10T>C c.4522-10T>C (n.4522-10T>C) c.3799-10T>C (n.3799-10T>C) c.2350-10T>C (n.2350-10T>C) | ClinVar |
2 | g.165386737T>C | CA208687 | SCN2A | c.4552-9T>C (n.4552-9T>C) c.*2871-9T>C (n.*2871-9T>C) c.*2539-9T>C (n.*2539-9T>C) c.*5075-9T>C (n.*5075-9T>C) c.*2494-9T>C (n.*2494-9T>C) c.4156-9T>C (n.4156-9T>C) n.7983-9T>C c.4522-9T>C (n.4522-9T>C) c.3799-9T>C (n.3799-9T>C) c.2350-9T>C (n.2350-9T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165386737T= | CA1304563730 | SCN2A | c.4552-9T= (n.4552-9T=) c.*2871-9T= (n.*2871-9T=) c.*2539-9T= (n.*2539-9T=) c.*5075-9T= (n.*5075-9T=) c.*2494-9T= (n.*2494-9T=) c.4156-9T= (n.4156-9T=) n.7983-9T= c.4522-9T= (n.4522-9T=) c.3799-9T= (n.3799-9T=) c.2350-9T= (n.2350-9T=) | |
2 | g.165386738T>G | CA2661741322 | SCN2A | c.4552-8T>G (n.4552-8T>G) c.*2871-8T>G (n.*2871-8T>G) c.*2539-8T>G (n.*2539-8T>G) c.*5075-8T>G (n.*5075-8T>G) c.*2494-8T>G (n.*2494-8T>G) c.4156-8T>G (n.4156-8T>G) n.7983-8T>G c.4522-8T>G (n.4522-8T>G) c.3799-8T>G (n.3799-8T>G) c.2350-8T>G (n.2350-8T>G) | gnomAD v4 |
2 | g.165386739G>T | CA2661741323 | SCN2A | c.4552-7G>T (n.4552-7G>T) c.*2871-7G>T (n.*2871-7G>T) c.*2539-7G>T (n.*2539-7G>T) c.*5075-7G>T (n.*5075-7G>T) c.*2494-7G>T (n.*2494-7G>T) c.4156-7G>T (n.4156-7G>T) n.7983-7G>T c.4522-7G>T (n.4522-7G>T) c.3799-7G>T (n.3799-7G>T) c.2350-7G>T (n.2350-7G>T) | gnomAD v4 |
2 | g.165386741T>C | CA1304563732 | SCN2A | c.4552-5T>C (n.4552-5T>C) c.*2871-5T>C (n.*2871-5T>C) c.*2539-5T>C (n.*2539-5T>C) c.*5075-5T>C (n.*5075-5T>C) c.*2494-5T>C (n.*2494-5T>C) c.4156-5T>C (n.4156-5T>C) n.7983-5T>C c.4522-5T>C (n.4522-5T>C) c.3799-5T>C (n.3799-5T>C) c.2350-5T>C (n.2350-5T>C) | ClinVar dbSNP gnomAD v4 |
2 | g.165386741T= | CA1304563731 | SCN2A | c.4552-5T= (n.4552-5T=) c.*2871-5T= (n.*2871-5T=) c.*2539-5T= (n.*2539-5T=) c.*5075-5T= (n.*5075-5T=) c.*2494-5T= (n.*2494-5T=) c.4156-5T= (n.4156-5T=) n.7983-5T= c.4522-5T= (n.4522-5T=) c.3799-5T= (n.3799-5T=) c.2350-5T= (n.2350-5T=) | |
2 | g.165386742C>A | CA1940303 | SCN2A | c.4552-4C>A (n.4552-4C>A) c.*2871-4C>A (n.*2871-4C>A) c.*2539-4C>A (n.*2539-4C>A) c.*5075-4C>A (n.*5075-4C>A) c.*2494-4C>A (n.*2494-4C>A) c.4156-4C>A (n.4156-4C>A) n.7983-4C>A c.4522-4C>A (n.4522-4C>A) c.3799-4C>A (n.3799-4C>A) c.2350-4C>A (n.2350-4C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165386742C= | CA1304563733 | SCN2A | c.4552-4C= (n.4552-4C=) c.*2871-4C= (n.*2871-4C=) c.*2539-4C= (n.*2539-4C=) c.*5075-4C= (n.*5075-4C=) c.*2494-4C= (n.*2494-4C=) c.4156-4C= (n.4156-4C=) n.7983-4C= c.4522-4C= (n.4522-4C=) c.3799-4C= (n.3799-4C=) c.2350-4C= (n.2350-4C=) | |
2 | g.165386743C>T | CA2577142980 | SCN2A | c.4552-3C>T (n.4552-3C>T) c.*2871-3C>T (n.*2871-3C>T) c.*2539-3C>T (n.*2539-3C>T) c.*5075-3C>T (n.*5075-3C>T) c.*2494-3C>T (n.*2494-3C>T) c.4156-3C>T (n.4156-3C>T) n.7983-3C>T c.4522-3C>T (n.4522-3C>T) c.3799-3C>T (n.3799-3C>T) c.2350-3C>T (n.2350-3C>T) | gnomAD v4 |
2 | g.165386744A>C | CA349036134 | SCN2A | c.4552-2A>C (n.4552-2A>C) c.*2871-2A>C (n.*2871-2A>C) c.*2539-2A>C (n.*2539-2A>C) c.*5075-2A>C (n.*5075-2A>C) c.*2494-2A>C (n.*2494-2A>C) c.4156-2A>C (n.4156-2A>C) n.7983-2A>C c.4522-2A>C (n.4522-2A>C) c.3799-2A>C (n.3799-2A>C) c.2350-2A>C (n.2350-2A>C) | |
2 | g.165386744A>G | CA349036135 | SCN2A | c.4552-2A>G (n.4552-2A>G) c.*2871-2A>G (n.*2871-2A>G) c.*2539-2A>G (n.*2539-2A>G) c.*5075-2A>G (n.*5075-2A>G) c.*2494-2A>G (n.*2494-2A>G) c.4156-2A>G (n.4156-2A>G) n.7983-2A>G c.4522-2A>G (n.4522-2A>G) c.3799-2A>G (n.3799-2A>G) c.2350-2A>G (n.2350-2A>G) | ClinVar |
2 | g.165386744A>T | CA349036136 | SCN2A | c.4552-2A>T (n.4552-2A>T) c.*2871-2A>T (n.*2871-2A>T) c.*2539-2A>T (n.*2539-2A>T) c.*5075-2A>T (n.*5075-2A>T) c.*2494-2A>T (n.*2494-2A>T) c.4156-2A>T (n.4156-2A>T) n.7983-2A>T c.4522-2A>T (n.4522-2A>T) c.3799-2A>T (n.3799-2A>T) c.2350-2A>T (n.2350-2A>T) | |
2 | g.165386745G>A | CA349036137 | SCN2A | c.4552-1G>A (n.4552-1G>A) c.*2871-1G>A (n.*2871-1G>A) c.*2539-1G>A (n.*2539-1G>A) c.*5075-1G>A (n.*5075-1G>A) c.*2494-1G>A (n.*2494-1G>A) c.4156-1G>A (n.4156-1G>A) n.7983-1G>A c.4522-1G>A (n.4522-1G>A) c.3799-1G>A (n.3799-1G>A) c.2350-1G>A (n.2350-1G>A) | |
2 | g.165386745G>C | CA349036138 | SCN2A | c.4552-1G>C (n.4552-1G>C) c.*2871-1G>C (n.*2871-1G>C) c.*2539-1G>C (n.*2539-1G>C) c.*5075-1G>C (n.*5075-1G>C) c.*2494-1G>C (n.*2494-1G>C) c.4156-1G>C (n.4156-1G>C) n.7983-1G>C c.4522-1G>C (n.4522-1G>C) c.3799-1G>C (n.3799-1G>C) c.2350-1G>C (n.2350-1G>C) | |
2 | g.165386745G>T | CA349036139 | SCN2A | c.4552-1G>T (n.4552-1G>T) c.*2871-1G>T (n.*2871-1G>T) c.*2539-1G>T (n.*2539-1G>T) c.*5075-1G>T (n.*5075-1G>T) c.*2494-1G>T (n.*2494-1G>T) c.4156-1G>T (n.4156-1G>T) n.7983-1G>T c.4522-1G>T (n.4522-1G>T) c.3799-1G>T (n.3799-1G>T) c.2350-1G>T (n.2350-1G>T) | gnomAD v4 |
2 | g.165386746A>C | CA349036140 | SCN2A | c.4552A>C (p.Asn1518His) c.*2871A>C (n.*2871A>C) c.*2539A>C (n.*2539A>C) c.*5075A>C (n.*5075A>C) c.*2494A>C (n.*2494A>C) c.4156A>C (p.Asn1386His) n.7983A>C c.4522A>C (p.Asn1508His) c.3799A>C (p.Asn1267His) c.2350A>C (p.Asn784His) | |
2 | g.165386746A>G | CA349036141 | SCN2A | c.4552A>G (p.Asn1518Asp) c.*2871A>G (n.*2871A>G) c.*2539A>G (n.*2539A>G) c.*5075A>G (n.*5075A>G) c.*2494A>G (n.*2494A>G) c.4156A>G (p.Asn1386Asp) n.7983A>G c.4522A>G (p.Asn1508Asp) c.3799A>G (p.Asn1267Asp) c.2350A>G (p.Asn784Asp) | |
2 | g.165386746A>T | CA349036142 | SCN2A | c.4552A>T (p.Asn1518Tyr) c.*2871A>T (n.*2871A>T) c.*2539A>T (n.*2539A>T) c.*5075A>T (n.*5075A>T) c.*2494A>T (n.*2494A>T) c.4156A>T (p.Asn1386Tyr) n.7983A>T c.4522A>T (p.Asn1508Tyr) c.3799A>T (p.Asn1267Tyr) c.2350A>T (p.Asn784Tyr) | |
2 | g.165386747A>C | CA349036143 | SCN2A | c.4553A>C (p.Asn1518Thr) c.*2872A>C (n.*2872A>C) c.*2540A>C (n.*2540A>C) c.*5076A>C (n.*5076A>C) c.*2495A>C (n.*2495A>C) c.4157A>C (p.Asn1386Thr) n.7984A>C c.4523A>C (p.Asn1508Thr) c.3800A>C (p.Asn1267Thr) c.2351A>C (p.Asn784Thr) | |
2 | g.165386747A>G | CA349036144 | SCN2A | c.4553A>G (p.Asn1518Ser) c.*2872A>G (n.*2872A>G) c.*2540A>G (n.*2540A>G) c.*5076A>G (n.*5076A>G) c.*2495A>G (n.*2495A>G) c.4157A>G (p.Asn1386Ser) n.7984A>G c.4523A>G (p.Asn1508Ser) c.3800A>G (p.Asn1267Ser) c.2351A>G (p.Asn784Ser) | |
2 | g.165386747A>T | CA349036145 | SCN2A | c.4553A>T (p.Asn1518Ile) c.*2872A>T (n.*2872A>T) c.*2540A>T (n.*2540A>T) c.*5076A>T (n.*5076A>T) c.*2495A>T (n.*2495A>T) c.4157A>T (p.Asn1386Ile) n.7984A>T c.4523A>T (p.Asn1508Ile) c.3800A>T (p.Asn1267Ile) c.2351A>T (p.Asn784Ile) | |
2 | g.165386748C>A | CA349036147 | SCN2A | c.4554C>A (p.Asn1518Lys) c.*2873C>A (n.*2873C>A) c.*2541C>A (n.*2541C>A) c.*5077C>A (n.*5077C>A) c.*2496C>A (n.*2496C>A) c.4158C>A (p.Asn1386Lys) n.7985C>A c.4524C>A (p.Asn1508Lys) c.3801C>A (p.Asn1267Lys) c.2352C>A (p.Asn784Lys) | |
2 | g.165386748C>G | CA349036146 | SCN2A | c.4554C>G (p.Asn1518Lys) c.*2873C>G (n.*2873C>G) c.*2541C>G (n.*2541C>G) c.*5077C>G (n.*5077C>G) c.*2496C>G (n.*2496C>G) c.4158C>G (p.Asn1386Lys) n.7985C>G c.4524C>G (p.Asn1508Lys) c.3801C>G (p.Asn1267Lys) c.2352C>G (p.Asn784Lys) | |
2 | g.165386748C>T | CA429972408 | SCN2A | c.4554C>T (p.Asn1518=) c.*2873C>T (n.*2873C>T) c.*2541C>T (n.*2541C>T) c.*5077C>T (n.*5077C>T) c.*2496C>T (n.*2496C>T) c.4158C>T (p.Asn1386=) n.7985C>T c.4524C>T (p.Asn1508=) c.3801C>T (p.Asn1267=) c.2352C>T (p.Asn784=) | |
2 | g.165386749A>C | CA349036148 | SCN2A | c.4555A>C (p.Lys1519Gln) c.*2874A>C (n.*2874A>C) c.*2542A>C (n.*2542A>C) c.*5078A>C (n.*5078A>C) c.*2497A>C (n.*2497A>C) c.4159A>C (p.Lys1387Gln) n.7986A>C c.4525A>C (p.Lys1509Gln) c.3802A>C (p.Lys1268Gln) c.2353A>C (p.Lys785Gln) | |
2 | g.165386749A>G | CA349036149 | SCN2A | c.4555A>G (p.Lys1519Glu) c.*2874A>G (n.*2874A>G) c.*2542A>G (n.*2542A>G) c.*5078A>G (n.*5078A>G) c.*2497A>G (n.*2497A>G) c.4159A>G (p.Lys1387Glu) n.7986A>G c.4525A>G (p.Lys1509Glu) c.3802A>G (p.Lys1268Glu) c.2353A>G (p.Lys785Glu) | |
2 | g.165386749A>T | CA349036150 | SCN2A | c.4555A>T (p.Lys1519Ter) c.*2874A>T (n.*2874A>T) c.*2542A>T (n.*2542A>T) c.*5078A>T (n.*5078A>T) c.*2497A>T (n.*2497A>T) c.4159A>T (p.Lys1387Ter) n.7986A>T c.4525A>T (p.Lys1509Ter) c.3802A>T (p.Lys1268Ter) c.2353A>T (p.Lys785Ter) | |
2 | g.165386750A>C | CA349036151 | SCN2A | c.4556A>C (p.Lys1519Thr) c.*2875A>C (n.*2875A>C) c.*2543A>C (n.*2543A>C) c.*5079A>C (n.*5079A>C) c.*2498A>C (n.*2498A>C) c.4160A>C (p.Lys1387Thr) n.7987A>C c.4526A>C (p.Lys1509Thr) c.3803A>C (p.Lys1268Thr) c.2354A>C (p.Lys785Thr) | |
2 | g.165386750A>G | CA349036152 | SCN2A | c.4556A>G (p.Lys1519Arg) c.*2875A>G (n.*2875A>G) c.*2543A>G (n.*2543A>G) c.*5079A>G (n.*5079A>G) c.*2498A>G (n.*2498A>G) c.4160A>G (p.Lys1387Arg) n.7987A>G c.4526A>G (p.Lys1509Arg) c.3803A>G (p.Lys1268Arg) c.2354A>G (p.Lys785Arg) | |
2 | g.165386750A>T | CA349036153 | SCN2A | c.4556A>T (p.Lys1519Ile) c.*2875A>T (n.*2875A>T) c.*2543A>T (n.*2543A>T) c.*5079A>T (n.*5079A>T) c.*2498A>T (n.*2498A>T) c.4160A>T (p.Lys1387Ile) n.7987A>T c.4526A>T (p.Lys1509Ile) c.3803A>T (p.Lys1268Ile) c.2354A>T (p.Lys785Ile) | |
2 | g.165386751A= | CA1304563734 | SCN2A | c.4557A= (p.Lys1519=) c.*2876A= (n.*2876A=) c.*2544A= (n.*2544A=) c.*5080A= (n.*5080A=) c.*2499A= (n.*2499A=) c.4161A= (p.Lys1387=) n.7988A= c.4527A= (p.Lys1509=) c.3804A= (p.Lys1268=) c.2355A= (p.Lys785=) | |
2 | g.165386751A>C | CA349036154 | SCN2A | c.4557A>C (p.Lys1519Asn) c.*2876A>C (n.*2876A>C) c.*2544A>C (n.*2544A>C) c.*5080A>C (n.*5080A>C) c.*2499A>C (n.*2499A>C) c.4161A>C (p.Lys1387Asn) n.7988A>C c.4527A>C (p.Lys1509Asn) c.3804A>C (p.Lys1268Asn) c.2355A>C (p.Lys785Asn) | |
2 | g.165386751A>G | CA429972410 | SCN2A | c.4557A>G (p.Lys1519=) c.*2876A>G (n.*2876A>G) c.*2544A>G (n.*2544A>G) c.*5080A>G (n.*5080A>G) c.*2499A>G (n.*2499A>G) c.4161A>G (p.Lys1387=) n.7988A>G c.4527A>G (p.Lys1509=) c.3804A>G (p.Lys1268=) c.2355A>G (p.Lys785=) | ClinVar dbSNP gnomAD v4 |
2 | g.165386751A>T | CA349036155 | SCN2A | c.4557A>T (p.Lys1519Asn) c.*2876A>T (n.*2876A>T) c.*2544A>T (n.*2544A>T) c.*5080A>T (n.*5080A>T) c.*2499A>T (n.*2499A>T) c.4161A>T (p.Lys1387Asn) n.7988A>T c.4527A>T (p.Lys1509Asn) c.3804A>T (p.Lys1268Asn) c.2355A>T (p.Lys785Asn) | |
2 | g.165386752T>A | CA349036156 | SCN2A | c.4558T>A (p.Phe1520Ile) c.*2877T>A (n.*2877T>A) c.*2545T>A (n.*2545T>A) c.*5081T>A (n.*5081T>A) c.*2500T>A (n.*2500T>A) c.4162T>A (p.Phe1388Ile) n.7989T>A c.4528T>A (p.Phe1510Ile) c.3805T>A (p.Phe1269Ile) c.2356T>A (p.Phe786Ile) | |
2 | g.165386752T>C | CA349036157 | SCN2A | c.4558T>C (p.Phe1520Leu) c.*2877T>C (n.*2877T>C) c.*2545T>C (n.*2545T>C) c.*5081T>C (n.*5081T>C) c.*2500T>C (n.*2500T>C) c.4162T>C (p.Phe1388Leu) n.7989T>C c.4528T>C (p.Phe1510Leu) c.3805T>C (p.Phe1269Leu) c.2356T>C (p.Phe786Leu) | |
2 | g.165386752T>G | CA59750817 | SCN2A | c.4558T>G (p.Phe1520Val) c.*2877T>G (n.*2877T>G) c.*2545T>G (n.*2545T>G) c.*5081T>G (n.*5081T>G) c.*2500T>G (n.*2500T>G) c.4162T>G (p.Phe1388Val) n.7989T>G c.4528T>G (p.Phe1510Val) c.3805T>G (p.Phe1269Val) c.2356T>G (p.Phe786Val) | dbSNP |
2 | g.165386752T= | CA1304563735 | SCN2A | c.4558T= (p.Phe1520=) c.*2877T= (n.*2877T=) c.*2545T= (n.*2545T=) c.*5081T= (n.*5081T=) c.*2500T= (n.*2500T=) c.4162T= (p.Phe1388=) n.7989T= c.4528T= (p.Phe1510=) c.3805T= (p.Phe1269=) c.2356T= (p.Phe786=) | |
2 | g.165386753T>A | CA349036158 | SCN2A | c.4559T>A (p.Phe1520Tyr) c.*2878T>A (n.*2878T>A) c.*2546T>A (n.*2546T>A) c.*5082T>A (n.*5082T>A) c.*2501T>A (n.*2501T>A) c.4163T>A (p.Phe1388Tyr) n.7990T>A c.4529T>A (p.Phe1510Tyr) c.3806T>A (p.Phe1269Tyr) c.2357T>A (p.Phe786Tyr) | |
2 | g.165386753T>C | CA349036159 | SCN2A | c.4559T>C (p.Phe1520Ser) c.*2878T>C (n.*2878T>C) c.*2546T>C (n.*2546T>C) c.*5082T>C (n.*5082T>C) c.*2501T>C (n.*2501T>C) c.4163T>C (p.Phe1388Ser) n.7990T>C c.4529T>C (p.Phe1510Ser) c.3806T>C (p.Phe1269Ser) c.2357T>C (p.Phe786Ser) | |
2 | g.165386753T>G | CA349036160 | SCN2A | c.4559T>G (p.Phe1520Cys) c.*2878T>G (n.*2878T>G) c.*2546T>G (n.*2546T>G) c.*5082T>G (n.*5082T>G) c.*2501T>G (n.*2501T>G) c.4163T>G (p.Phe1388Cys) n.7990T>G c.4529T>G (p.Phe1510Cys) c.3806T>G (p.Phe1269Cys) c.2357T>G (p.Phe786Cys) | |
2 | g.165386754C>A | CA349036162 | SCN2A | c.4560C>A (p.Phe1520Leu) c.*2879C>A (n.*2879C>A) c.*2547C>A (n.*2547C>A) c.*5083C>A (n.*5083C>A) c.*2502C>A (n.*2502C>A) c.4164C>A (p.Phe1388Leu) n.7991C>A c.4530C>A (p.Phe1510Leu) c.3807C>A (p.Phe1269Leu) c.2358C>A (p.Phe786Leu) | |
2 | g.165386754C>G | CA349036161 | SCN2A | c.4560C>G (p.Phe1520Leu) c.*2879C>G (n.*2879C>G) c.*2547C>G (n.*2547C>G) c.*5083C>G (n.*5083C>G) c.*2502C>G (n.*2502C>G) c.4164C>G (p.Phe1388Leu) n.7991C>G c.4530C>G (p.Phe1510Leu) c.3807C>G (p.Phe1269Leu) c.2358C>G (p.Phe786Leu) | |
2 | g.165386754C>T | CA429972414 | SCN2A | c.4560C>T (p.Phe1520=) c.*2879C>T (n.*2879C>T) c.*2547C>T (n.*2547C>T) c.*5083C>T (n.*5083C>T) c.*2502C>T (n.*2502C>T) c.4164C>T (p.Phe1388=) n.7991C>T c.4530C>T (p.Phe1510=) c.3807C>T (p.Phe1269=) c.2358C>T (p.Phe786=) | |
2 | g.165386755C>A | CA349036163 | SCN2A | c.4561C>A (p.Gln1521Lys) c.*2880C>A (n.*2880C>A) c.*2548C>A (n.*2548C>A) c.*5084C>A (n.*5084C>A) c.*2503C>A (n.*2503C>A) c.4165C>A (p.Gln1389Lys) n.7992C>A c.4531C>A (p.Gln1511Lys) c.3808C>A (p.Gln1270Lys) c.2359C>A (p.Gln787Lys) | |
2 | g.165386755C= | CA1304563736 | SCN2A | c.4561C= (p.Gln1521=) c.*2880C= (n.*2880C=) c.*2548C= (n.*2548C=) c.*5084C= (n.*5084C=) c.*2503C= (n.*2503C=) c.4165C= (p.Gln1389=) n.7992C= c.4531C= (p.Gln1511=) c.3808C= (p.Gln1270=) c.2359C= (p.Gln787=) | |
2 | g.165386755C>G | CA349036165 | SCN2A | c.4561C>G (p.Gln1521Glu) c.*2880C>G (n.*2880C>G) c.*2548C>G (n.*2548C>G) c.*5084C>G (n.*5084C>G) c.*2503C>G (n.*2503C>G) c.4165C>G (p.Gln1389Glu) n.7992C>G c.4531C>G (p.Gln1511Glu) c.3808C>G (p.Gln1270Glu) c.2359C>G (p.Gln787Glu) | |
2 | g.165386755C>T | CA349036164 | SCN2A | c.4561C>T (p.Gln1521Ter) c.*2880C>T (n.*2880C>T) c.*2548C>T (n.*2548C>T) c.*5084C>T (n.*5084C>T) c.*2503C>T (n.*2503C>T) c.4165C>T (p.Gln1389Ter) n.7992C>T c.4531C>T (p.Gln1511Ter) c.3808C>T (p.Gln1270Ter) c.2359C>T (p.Gln787Ter) | dbSNP |
2 | g.165386756A>C | CA349036166 | SCN2A | c.4562A>C (p.Gln1521Pro) c.*2881A>C (n.*2881A>C) c.*2549A>C (n.*2549A>C) c.*5085A>C (n.*5085A>C) c.*2504A>C (n.*2504A>C) c.4166A>C (p.Gln1389Pro) n.7993A>C c.4532A>C (p.Gln1511Pro) c.3809A>C (p.Gln1270Pro) c.2360A>C (p.Gln787Pro) | |
2 | g.165386756A>G | CA349036168 | SCN2A | c.4562A>G (p.Gln1521Arg) c.*2881A>G (n.*2881A>G) c.*2549A>G (n.*2549A>G) c.*5085A>G (n.*5085A>G) c.*2504A>G (n.*2504A>G) c.4166A>G (p.Gln1389Arg) n.7993A>G c.4532A>G (p.Gln1511Arg) c.3809A>G (p.Gln1270Arg) c.2360A>G (p.Gln787Arg) | |
2 | g.165386756A>T | CA349036167 | SCN2A | c.4562A>T (p.Gln1521Leu) c.*2881A>T (n.*2881A>T) c.*2549A>T (n.*2549A>T) c.*5085A>T (n.*5085A>T) c.*2504A>T (n.*2504A>T) c.4166A>T (p.Gln1389Leu) n.7993A>T c.4532A>T (p.Gln1511Leu) c.3809A>T (p.Gln1270Leu) c.2360A>T (p.Gln787Leu) | |
2 | g.165386757del | CA2843744709 | SCN2A | c.4563del (p.Gly1522GlufsTer7) c.*2882del (n.*2882del) c.*2550del (n.*2550del) c.*5086del (n.*5086del) c.*2505del (n.*2505del) c.4167del (p.Gly1390GlufsTer7) n.7994del c.4533del (p.Gly1512GlufsTer7) c.3810del (p.Gly1271GlufsTer7) c.2361del (p.Gly788GlufsTer7) | |
2 | g.165386757A>C | CA349036169 | SCN2A | c.4563A>C (p.Gln1521His) c.*2882A>C (n.*2882A>C) c.*2550A>C (n.*2550A>C) c.*5086A>C (n.*5086A>C) c.*2505A>C (n.*2505A>C) c.4167A>C (p.Gln1389His) n.7994A>C c.4533A>C (p.Gln1511His) c.3810A>C (p.Gln1270His) c.2361A>C (p.Gln787His) | |
2 | g.165386757A>G | CA429972418 | SCN2A | c.4563A>G (p.Gln1521=) c.*2882A>G (n.*2882A>G) c.*2550A>G (n.*2550A>G) c.*5086A>G (n.*5086A>G) c.*2505A>G (n.*2505A>G) c.4167A>G (p.Gln1389=) n.7994A>G c.4533A>G (p.Gln1511=) c.3810A>G (p.Gln1270=) c.2361A>G (p.Gln787=) | |
2 | g.165386757A>T | CA349036170 | SCN2A | c.4563A>T (p.Gln1521His) c.*2882A>T (n.*2882A>T) c.*2550A>T (n.*2550A>T) c.*5086A>T (n.*5086A>T) c.*2505A>T (n.*2505A>T) c.4167A>T (p.Gln1389His) n.7994A>T c.4533A>T (p.Gln1511His) c.3810A>T (p.Gln1270His) c.2361A>T (p.Gln787His) | |
2 | g.165386758G>A | CA349036171 | SCN2A | c.4564G>A (p.Gly1522Arg) c.*2883G>A (n.*2883G>A) c.*2551G>A (n.*2551G>A) c.*5087G>A (n.*5087G>A) c.*2506G>A (n.*2506G>A) c.4168G>A (p.Gly1390Arg) n.7995G>A c.4534G>A (p.Gly1512Arg) c.3811G>A (p.Gly1271Arg) c.2362G>A (p.Gly788Arg) | COSMIC COSMIC |
2 | g.165386758G>C | CA349036172 | SCN2A | c.4564G>C (p.Gly1522Arg) c.*2883G>C (n.*2883G>C) c.*2551G>C (n.*2551G>C) c.*5087G>C (n.*5087G>C) c.*2506G>C (n.*2506G>C) c.4168G>C (p.Gly1390Arg) n.7995G>C c.4534G>C (p.Gly1512Arg) c.3811G>C (p.Gly1271Arg) c.2362G>C (p.Gly788Arg) | |
2 | g.165386758G= | CA1304563737 | SCN2A | c.4564G= (p.Gly1522=) c.*2883G= (n.*2883G=) c.*2551G= (n.*2551G=) c.*5087G= (n.*5087G=) c.*2506G= (n.*2506G=) c.4168G= (p.Gly1390=) n.7995G= c.4534G= (p.Gly1512=) c.3811G= (p.Gly1271=) c.2362G= (p.Gly788=) | |
2 | g.165386758G>T | CA349036173 | SCN2A | c.4564G>T (p.Gly1522Ter) c.*2883G>T (n.*2883G>T) c.*2551G>T (n.*2551G>T) c.*5087G>T (n.*5087G>T) c.*2506G>T (n.*2506G>T) c.4168G>T (p.Gly1390Ter) n.7995G>T c.4534G>T (p.Gly1512Ter) c.3811G>T (p.Gly1271Ter) c.2362G>T (p.Gly788Ter) | dbSNP gnomAD v4 |
2 | g.165386758_165386759delinsAA | CA645527248 | SCN2A | c.4564_4565delinsAA (p.Gly1522Lys) c.*2883_*2884delinsAA (n.*2883_*2884delinsAA) c.*2551_*2552delinsAA (n.*2551_*2552delinsAA) c.*5087_*5088delinsAA (n.*5087_*5088delinsAA) c.*2506_*2507delinsAA (n.*2506_*2507delinsAA) c.4168_4169delinsAA (p.Gly1390Lys) n.7995_7996delinsAA c.4534_4535delinsAA (p.Gly1512Lys) c.3811_3812delinsAA (p.Gly1271Lys) c.2362_2363delinsAA (p.Gly788Lys) | COSMIC COSMIC |
2 | g.165386759G>A | CA349036174 | SCN2A | c.4565G>A (p.Gly1522Glu) c.*2884G>A (n.*2884G>A) c.*2552G>A (n.*2552G>A) c.*5088G>A (n.*5088G>A) c.*2507G>A (n.*2507G>A) c.4169G>A (p.Gly1390Glu) n.7996G>A c.4535G>A (p.Gly1512Glu) c.3812G>A (p.Gly1271Glu) c.2363G>A (p.Gly788Glu) | gnomAD v4 |
2 | g.165386759G>C | CA231489 | SCN2A | c.4565G>C (p.Gly1522Ala) c.*2884G>C (n.*2884G>C) c.*2552G>C (n.*2552G>C) c.*5088G>C (n.*5088G>C) c.*2507G>C (n.*2507G>C) c.4169G>C (p.Gly1390Ala) n.7996G>C c.4535G>C (p.Gly1512Ala) c.3812G>C (p.Gly1271Ala) c.2363G>C (p.Gly788Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.[165386759G>C;165389450C>G] | CA2742038351 | SCN2A | c.[4565G>C;5644C>G] (p.[Gly1522Ala;Arg1882Gly]) c.[*2884G>C;*3963C>G] (n.[*2884G>C;*3963C>G]) c.[*2552G>C;*3631C>G] (n.[*2552G>C;*3631C>G]) c.[*5088G>C;*6167C>G] (n.[*5088G>C;*6167C>G]) c.[*2507G>C;*3586C>G] (n.[*2507G>C;*3586C>G]) c.[4169G>C;5248C>G] (p.[Gly1390Ala;Arg1750Gly]) n.[7996G>C;9075C>G] c.[4535G>C;5614C>G] (p.[Gly1512Ala;Arg1872Gly]) c.[3812G>C;4891C>G] (p.[Gly1271Ala;Arg1631Gly]) c.[2363G>C;3442C>G] (p.[Gly788Ala;Arg1148Gly]) | |
2 | g.165386759G= | CA1304563738 | SCN2A | c.4565G= (p.Gly1522=) c.*2884G= (n.*2884G=) c.*2552G= (n.*2552G=) c.*5088G= (n.*5088G=) c.*2507G= (n.*2507G=) c.4169G= (p.Gly1390=) n.7996G= c.4535G= (p.Gly1512=) c.3812G= (p.Gly1271=) c.2363G= (p.Gly788=) | |
2 | g.165386759G>T | CA349036175 | SCN2A | c.4565G>T (p.Gly1522Val) c.*2884G>T (n.*2884G>T) c.*2552G>T (n.*2552G>T) c.*5088G>T (n.*5088G>T) c.*2507G>T (n.*2507G>T) c.4169G>T (p.Gly1390Val) n.7996G>T c.4535G>T (p.Gly1512Val) c.3812G>T (p.Gly1271Val) c.2363G>T (p.Gly788Val) | |
2 | g.165386760A= | CA1304563739 | SCN2A | c.4566A= (p.Gly1522=) c.*2885A= (n.*2885A=) c.*2553A= (n.*2553A=) c.*5089A= (n.*5089A=) c.*2508A= (n.*2508A=) c.4170A= (p.Gly1390=) n.7997A= c.4536A= (p.Gly1512=) c.3813A= (p.Gly1271=) c.2364A= (p.Gly788=) | |
2 | g.165386760A>C | CA429972420 | SCN2A | c.4566A>C (p.Gly1522=) c.*2885A>C (n.*2885A>C) c.*2553A>C (n.*2553A>C) c.*5089A>C (n.*5089A>C) c.*2508A>C (n.*2508A>C) c.4170A>C (p.Gly1390=) n.7997A>C c.4536A>C (p.Gly1512=) c.3813A>C (p.Gly1271=) c.2364A>C (p.Gly788=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.165386760A>G | CA429972422 | SCN2A | c.4566A>G (p.Gly1522=) c.*2885A>G (n.*2885A>G) c.*2553A>G (n.*2553A>G) c.*5089A>G (n.*5089A>G) c.*2508A>G (n.*2508A>G) c.4170A>G (p.Gly1390=) n.7997A>G c.4536A>G (p.Gly1512=) c.3813A>G (p.Gly1271=) c.2364A>G (p.Gly788=) | |
2 | g.165386760A>T | CA429972421 | SCN2A | c.4566A>T (p.Gly1522=) c.*2885A>T (n.*2885A>T) c.*2553A>T (n.*2553A>T) c.*5089A>T (n.*5089A>T) c.*2508A>T (n.*2508A>T) c.4170A>T (p.Gly1390=) n.7997A>T c.4536A>T (p.Gly1512=) c.3813A>T (p.Gly1271=) c.2364A>T (p.Gly788=) | |
2 | g.165386761A>C | CA349036176 | SCN2A | c.4567A>C (p.Met1523Leu) c.*2886A>C (n.*2886A>C) c.*2554A>C (n.*2554A>C) c.*5090A>C (n.*5090A>C) c.*2509A>C (n.*2509A>C) c.4171A>C (p.Met1391Leu) n.7998A>C c.4537A>C (p.Met1513Leu) c.3814A>C (p.Met1272Leu) c.2365A>C (p.Met789Leu) | |
2 | g.165386761A>G | CA349036177 | SCN2A | c.4567A>G (p.Met1523Val) c.*2886A>G (n.*2886A>G) c.*2554A>G (n.*2554A>G) c.*5090A>G (n.*5090A>G) c.*2509A>G (n.*2509A>G) c.4171A>G (p.Met1391Val) n.7998A>G c.4537A>G (p.Met1513Val) c.3814A>G (p.Met1272Val) c.2365A>G (p.Met789Val) | gnomAD v4 |
2 | g.165386761A>T | CA349036178 | SCN2A | c.4567A>T (p.Met1523Leu) c.*2886A>T (n.*2886A>T) c.*2554A>T (n.*2554A>T) c.*5090A>T (n.*5090A>T) c.*2509A>T (n.*2509A>T) c.4171A>T (p.Met1391Leu) n.7998A>T c.4537A>T (p.Met1513Leu) c.3814A>T (p.Met1272Leu) c.2365A>T (p.Met789Leu) | |
2 | g.165386762T>A | CA1940304 | SCN2A | c.4568T>A (p.Met1523Lys) c.*2887T>A (n.*2887T>A) c.*2555T>A (n.*2555T>A) c.*5091T>A (n.*5091T>A) c.*2510T>A (n.*2510T>A) c.4172T>A (p.Met1391Lys) n.7999T>A c.4538T>A (p.Met1513Lys) c.3815T>A (p.Met1272Lys) c.2366T>A (p.Met789Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.165386762T>C | CA349036179 | SCN2A | c.4568T>C (p.Met1523Thr) c.*2887T>C (n.*2887T>C) c.*2555T>C (n.*2555T>C) c.*5091T>C (n.*5091T>C) c.*2510T>C (n.*2510T>C) c.4172T>C (p.Met1391Thr) n.7999T>C c.4538T>C (p.Met1513Thr) c.3815T>C (p.Met1272Thr) c.2366T>C (p.Met789Thr) | |
2 | g.165386762T>G | CA349036180 | SCN2A | c.4568T>G (p.Met1523Arg) c.*2887T>G (n.*2887T>G) c.*2555T>G (n.*2555T>G) c.*5091T>G (n.*5091T>G) c.*2510T>G (n.*2510T>G) c.4172T>G (p.Met1391Arg) n.7999T>G c.4538T>G (p.Met1513Arg) c.3815T>G (p.Met1272Arg) c.2366T>G (p.Met789Arg) | |
2 | g.165386762T= | CA1304563740 | SCN2A | c.4568T= (p.Met1523=) c.*2887T= (n.*2887T=) c.*2555T= (n.*2555T=) c.*5091T= (n.*5091T=) c.*2510T= (n.*2510T=) c.4172T= (p.Met1391=) n.7999T= c.4538T= (p.Met1513=) c.3815T= (p.Met1272=) c.2366T= (p.Met789=) | |
2 | g.165386763G>A | CA349036183 | SCN2A | c.4569G>A (p.Met1523Ile) c.*2888G>A (n.*2888G>A) c.*2556G>A (n.*2556G>A) c.*5092G>A (n.*5092G>A) c.*2511G>A (n.*2511G>A) c.4173G>A (p.Met1391Ile) n.8000G>A c.4539G>A (p.Met1513Ile) c.3816G>A (p.Met1272Ile) c.2367G>A (p.Met789Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.165386763G>C | CA349036181 | SCN2A | c.4569G>C (p.Met1523Ile) c.*2888G>C (n.*2888G>C) c.*2556G>C (n.*2556G>C) c.*5092G>C (n.*5092G>C) c.*2511G>C (n.*2511G>C) c.4173G>C (p.Met1391Ile) n.8000G>C c.4539G>C (p.Met1513Ile) c.3816G>C (p.Met1272Ile) c.2367G>C (p.Met789Ile) | |
2 | g.165386763G= | CA1304563741 | SCN2A | c.4569G= (p.Met1523=) c.*2888G= (n.*2888G=) c.*2556G= (n.*2556G=) c.*5092G= (n.*5092G=) c.*2511G= (n.*2511G=) c.4173G= (p.Met1391=) n.8000G= c.4539G= (p.Met1513=) c.3816G= (p.Met1272=) c.2367G= (p.Met789=) | |
2 | g.165386763G>T | CA349036182 | SCN2A | c.4569G>T (p.Met1523Ile) c.*2888G>T (n.*2888G>T) c.*2556G>T (n.*2556G>T) c.*5092G>T (n.*5092G>T) c.*2511G>T (n.*2511G>T) c.4173G>T (p.Met1391Ile) n.8000G>T c.4539G>T (p.Met1513Ile) c.3816G>T (p.Met1272Ile) c.2367G>T (p.Met789Ile) | |
2 | g.165386764G>A | CA349036184 | SCN2A | c.4570G>A (p.Val1524Ile) c.*2889G>A (n.*2889G>A) c.*2557G>A (n.*2557G>A) c.*5093G>A (n.*5093G>A) c.*2512G>A (n.*2512G>A) c.4174G>A (p.Val1392Ile) n.8001G>A c.4540G>A (p.Val1514Ile) c.3817G>A (p.Val1273Ile) c.2368G>A (p.Val790Ile) | gnomAD v4 |
2 | g.165386764G>C | CA349036185 | SCN2A | c.4570G>C (p.Val1524Leu) c.*2889G>C (n.*2889G>C) c.*2557G>C (n.*2557G>C) c.*5093G>C (n.*5093G>C) c.*2512G>C (n.*2512G>C) c.4174G>C (p.Val1392Leu) n.8001G>C c.4540G>C (p.Val1514Leu) c.3817G>C (p.Val1273Leu) c.2368G>C (p.Val790Leu) | |
2 | g.165386764G>T | CA349036186 | SCN2A | c.4570G>T (p.Val1524Phe) c.*2889G>T (n.*2889G>T) c.*2557G>T (n.*2557G>T) c.*5093G>T (n.*5093G>T) c.*2512G>T (n.*2512G>T) c.4174G>T (p.Val1392Phe) n.8001G>T c.4540G>T (p.Val1514Phe) c.3817G>T (p.Val1273Phe) c.2368G>T (p.Val790Phe) | |
2 | g.165386773_165386796del | CA2573130278 | SCN2A | c.4579_4602del (p.Phe1527_Asp1534del) c.*2898_*2921del (n.*2898_*2921del) c.*2566_*2589del (n.*2566_*2589del) c.*5102_*5125del (n.*5102_*5125del) c.*2521_*2544del (n.*2521_*2544del) c.4183_4206del (p.Phe1395_Asp1402del) n.8010_8033del c.4549_4572del (p.Phe1517_Asp1524del) c.3826_3849del (p.Phe1276_Asp1283del) c.2377_2400del (p.Phe793_Asp800del) | ClinVar dbSNP |
2 | g.165386765T>A | CA349036187 | SCN2A | c.4571T>A (p.Val1524Asp) c.*2890T>A (n.*2890T>A) c.*2558T>A (n.*2558T>A) c.*5094T>A (n.*5094T>A) c.*2513T>A (n.*2513T>A) c.4175T>A (p.Val1392Asp) n.8002T>A c.4541T>A (p.Val1514Asp) c.3818T>A (p.Val1273Asp) c.2369T>A (p.Val790Asp) | |
2 | g.165386765T>C | CA349036188 | SCN2A | c.4571T>C (p.Val1524Ala) c.*2890T>C (n.*2890T>C) c.*2558T>C (n.*2558T>C) c.*5094T>C (n.*5094T>C) c.*2513T>C (n.*2513T>C) c.4175T>C (p.Val1392Ala) n.8002T>C c.4541T>C (p.Val1514Ala) c.3818T>C (p.Val1273Ala) c.2369T>C (p.Val790Ala) | |
2 | g.165386765T>G | CA349036189 | SCN2A | c.4571T>G (p.Val1524Gly) c.*2890T>G (n.*2890T>G) c.*2558T>G (n.*2558T>G) c.*5094T>G (n.*5094T>G) c.*2513T>G (n.*2513T>G) c.4175T>G (p.Val1392Gly) n.8002T>G c.4541T>G (p.Val1514Gly) c.3818T>G (p.Val1273Gly) c.2369T>G (p.Val790Gly) | |
2 | g.165386766C>A | CA429972430 | SCN2A | c.4572C>A (p.Val1524=) c.*2891C>A (n.*2891C>A) c.*2559C>A (n.*2559C>A) c.*5095C>A (n.*5095C>A) c.*2514C>A (n.*2514C>A) c.4176C>A (p.Val1392=) n.8003C>A c.4542C>A (p.Val1514=) c.3819C>A (p.Val1273=) c.2370C>A (p.Val790=) | ClinVar |
2 | g.165386766C= | CA1304563742 | SCN2A | c.4572C= (p.Val1524=) c.*2891C= (n.*2891C=) c.*2559C= (n.*2559C=) c.*5095C= (n.*5095C=) c.*2514C= (n.*2514C=) c.4176C= (p.Val1392=) n.8003C= c.4542C= (p.Val1514=) c.3819C= (p.Val1273=) c.2370C= (p.Val790=) | |
2 | g.165386766C>G | CA429972432 | SCN2A | c.4572C>G (p.Val1524=) c.*2891C>G (n.*2891C>G) c.*2559C>G (n.*2559C>G) c.*5095C>G (n.*5095C>G) c.*2514C>G (n.*2514C>G) c.4176C>G (p.Val1392=) n.8003C>G c.4542C>G (p.Val1514=) c.3819C>G (p.Val1273=) c.2370C>G (p.Val790=) | |
2 | g.165386766C>T | CA59750847 | SCN2A | c.4572C>T (p.Val1524=) c.*2891C>T (n.*2891C>T) c.*2559C>T (n.*2559C>T) c.*5095C>T (n.*5095C>T) c.*2514C>T (n.*2514C>T) c.4176C>T (p.Val1392=) n.8003C>T c.4542C>T (p.Val1514=) c.3819C>T (p.Val1273=) c.2370C>T (p.Val790=) | ClinVar dbSNP gnomAD v4 |
2 | g.165386767T>A | CA349036190 | SCN2A | c.4573T>A (p.Phe1525Ile) c.*2892T>A (n.*2892T>A) c.*2560T>A (n.*2560T>A) c.*5096T>A (n.*5096T>A) c.*2515T>A (n.*2515T>A) c.4177T>A (p.Phe1393Ile) n.8004T>A c.4543T>A (p.Phe1515Ile) c.3820T>A (p.Phe1274Ile) c.2371T>A (p.Phe791Ile) | |
2 | g.165386767T>C | CA349036191 | SCN2A | c.4573T>C (p.Phe1525Leu) c.*2892T>C (n.*2892T>C) c.*2560T>C (n.*2560T>C) c.*5096T>C (n.*5096T>C) c.*2515T>C (n.*2515T>C) c.4177T>C (p.Phe1393Leu) n.8004T>C c.4543T>C (p.Phe1515Leu) c.3820T>C (p.Phe1274Leu) c.2371T>C (p.Phe791Leu) | |
2 | g.165386767T>G | CA349036192 | SCN2A | c.4573T>G (p.Phe1525Val) c.*2892T>G (n.*2892T>G) c.*2560T>G (n.*2560T>G) c.*5096T>G (n.*5096T>G) c.*2515T>G (n.*2515T>G) c.4177T>G (p.Phe1393Val) n.8004T>G c.4543T>G (p.Phe1515Val) c.3820T>G (p.Phe1274Val) c.2371T>G (p.Phe791Val) | |
2 | g.165386769del | CA2740095822 | SCN2A | c.4575del (p.Phe1525LeufsTer4) c.*2894del (n.*2894del) c.*2562del (n.*2562del) c.*5098del (n.*5098del) c.*2517del (n.*2517del) c.4179del (p.Phe1393LeufsTer4) n.8006del c.4545del (p.Phe1515LeufsTer4) c.3822del (p.Phe1274LeufsTer4) c.2373del (p.Phe791LeufsTer4) | ClinVar |
2 | g.165386768T>A | CA349036195 | SCN2A | c.4574T>A (p.Phe1525Tyr) c.*2893T>A (n.*2893T>A) c.*2561T>A (n.*2561T>A) c.*5097T>A (n.*5097T>A) c.*2516T>A (n.*2516T>A) c.4178T>A (p.Phe1393Tyr) n.8005T>A c.4544T>A (p.Phe1515Tyr) c.3821T>A (p.Phe1274Tyr) c.2372T>A (p.Phe791Tyr) | |
2 | g.165386768T>C | CA349036194 | SCN2A | c.4574T>C (p.Phe1525Ser) c.*2893T>C (n.*2893T>C) c.*2561T>C (n.*2561T>C) c.*5097T>C (n.*5097T>C) c.*2516T>C (n.*2516T>C) c.4178T>C (p.Phe1393Ser) n.8005T>C c.4544T>C (p.Phe1515Ser) c.3821T>C (p.Phe1274Ser) c.2372T>C (p.Phe791Ser) | |
2 | g.165386768T>G | CA349036193 | SCN2A | c.4574T>G (p.Phe1525Cys) c.*2893T>G (n.*2893T>G) c.*2561T>G (n.*2561T>G) c.*5097T>G (n.*5097T>G) c.*2516T>G (n.*2516T>G) c.4178T>G (p.Phe1393Cys) n.8005T>G c.4544T>G (p.Phe1515Cys) c.3821T>G (p.Phe1274Cys) c.2372T>G (p.Phe791Cys) | |
2 | g.165386769T>A | CA349036196 | SCN2A | c.4575T>A (p.Phe1525Leu) c.*2894T>A (n.*2894T>A) c.*2562T>A (n.*2562T>A) c.*5098T>A (n.*5098T>A) c.*2517T>A (n.*2517T>A) c.4179T>A (p.Phe1393Leu) n.8006T>A c.4545T>A (p.Phe1515Leu) c.3822T>A (p.Phe1274Leu) c.2373T>A (p.Phe791Leu) | |
2 | g.165386769T>C | CA429972434 | SCN2A | c.4575T>C (p.Phe1525=) c.*2894T>C (n.*2894T>C) c.*2562T>C (n.*2562T>C) c.*5098T>C (n.*5098T>C) c.*2517T>C (n.*2517T>C) c.4179T>C (p.Phe1393=) n.8006T>C c.4545T>C (p.Phe1515=) c.3822T>C (p.Phe1274=) c.2373T>C (p.Phe791=) | ClinVar gnomAD v4 |
2 | g.165386769T>G | CA349036197 | SCN2A | c.4575T>G (p.Phe1525Leu) c.*2894T>G (n.*2894T>G) c.*2562T>G (n.*2562T>G) c.*5098T>G (n.*5098T>G) c.*2517T>G (n.*2517T>G) c.4179T>G (p.Phe1393Leu) n.8006T>G c.4545T>G (p.Phe1515Leu) c.3822T>G (p.Phe1274Leu) c.2373T>G (p.Phe791Leu) | ClinVar dbSNP |
2 | g.165386769T= | CA1304563743 | SCN2A | c.4575T= (p.Phe1525=) c.*2894T= (n.*2894T=) c.*2562T= (n.*2562T=) c.*5098T= (n.*5098T=) c.*2517T= (n.*2517T=) c.4179T= (p.Phe1393=) n.8006T= c.4545T= (p.Phe1515=) c.3822T= (p.Phe1274=) c.2373T= (p.Phe791=) | |
2 | g.165386770G>A | CA349036198 | SCN2A | c.4576G>A (p.Asp1526Asn) c.*2895G>A (n.*2895G>A) c.*2563G>A (n.*2563G>A) c.*5099G>A (n.*5099G>A) c.*2518G>A (n.*2518G>A) c.4180G>A (p.Asp1394Asn) n.8007G>A c.4546G>A (p.Asp1516Asn) c.3823G>A (p.Asp1275Asn) c.2374G>A (p.Asp792Asn) | |
2 | g.165386770G>C | CA349036199 | SCN2A | c.4576G>C (p.Asp1526His) c.*2895G>C (n.*2895G>C) c.*2563G>C (n.*2563G>C) c.*5099G>C (n.*5099G>C) c.*2518G>C (n.*2518G>C) c.4180G>C (p.Asp1394His) n.8007G>C c.4546G>C (p.Asp1516His) c.3823G>C (p.Asp1275His) c.2374G>C (p.Asp792His) | ClinVar |
2 | g.165386770G>T | CA349036200 | SCN2A | c.4576G>T (p.Asp1526Tyr) c.*2895G>T (n.*2895G>T) c.*2563G>T (n.*2563G>T) c.*5099G>T (n.*5099G>T) c.*2518G>T (n.*2518G>T) c.4180G>T (p.Asp1394Tyr) n.8007G>T c.4546G>T (p.Asp1516Tyr) c.3823G>T (p.Asp1275Tyr) c.2374G>T (p.Asp792Tyr) | |
2 | g.165386771A>C | CA349036201 | SCN2A | c.4577A>C (p.Asp1526Ala) c.*2896A>C (n.*2896A>C) c.*2564A>C (n.*2564A>C) c.*5100A>C (n.*5100A>C) c.*2519A>C (n.*2519A>C) c.4181A>C (p.Asp1394Ala) n.8008A>C c.4547A>C (p.Asp1516Ala) c.3824A>C (p.Asp1275Ala) c.2375A>C (p.Asp792Ala) | COSMIC COSMIC |
2 | g.165386771A>G | CA349036202 | SCN2A | c.4577A>G (p.Asp1526Gly) c.*2896A>G (n.*2896A>G) c.*2564A>G (n.*2564A>G) c.*5100A>G (n.*5100A>G) c.*2519A>G (n.*2519A>G) c.4181A>G (p.Asp1394Gly) n.8008A>G c.4547A>G (p.Asp1516Gly) c.3824A>G (p.Asp1275Gly) c.2375A>G (p.Asp792Gly) | |
2 | g.165386771A>T | CA349036203 | SCN2A | c.4577A>T (p.Asp1526Val) c.*2896A>T (n.*2896A>T) c.*2564A>T (n.*2564A>T) c.*5100A>T (n.*5100A>T) c.*2519A>T (n.*2519A>T) c.4181A>T (p.Asp1394Val) n.8008A>T c.4547A>T (p.Asp1516Val) c.3824A>T (p.Asp1275Val) c.2375A>T (p.Asp792Val) | |
2 | g.165386772T>A | CA349036204 | SCN2A | c.4578T>A (p.Asp1526Glu) c.*2897T>A (n.*2897T>A) c.*2565T>A (n.*2565T>A) c.*5101T>A (n.*5101T>A) c.*2520T>A (n.*2520T>A) c.4182T>A (p.Asp1394Glu) n.8009T>A c.4548T>A (p.Asp1516Glu) c.3825T>A (p.Asp1275Glu) c.2376T>A (p.Asp792Glu) | |
2 | g.165386772T>C | CA429972439 | SCN2A | c.4578T>C (p.Asp1526=) c.*2897T>C (n.*2897T>C) c.*2565T>C (n.*2565T>C) c.*5101T>C (n.*5101T>C) c.*2520T>C (n.*2520T>C) c.4182T>C (p.Asp1394=) n.8009T>C c.4548T>C (p.Asp1516=) c.3825T>C (p.Asp1275=) c.2376T>C (p.Asp792=) | |
2 | g.165386772T>G | CA349036205 | SCN2A | c.4578T>G (p.Asp1526Glu) c.*2897T>G (n.*2897T>G) c.*2565T>G (n.*2565T>G) c.*5101T>G (n.*5101T>G) c.*2520T>G (n.*2520T>G) c.4182T>G (p.Asp1394Glu) n.8009T>G c.4548T>G (p.Asp1516Glu) c.3825T>G (p.Asp1275Glu) c.2376T>G (p.Asp792Glu) | gnomAD v4 |
2 | g.165386775dup | CA2586970192 | SCN2A | c.4581dup (p.Val1528CysfsTer7) c.*2900dup (n.*2900dup) c.*2568dup (n.*2568dup) c.*5104dup (n.*5104dup) c.*2523dup (n.*2523dup) c.4185dup (p.Val1396CysfsTer7) n.8012dup c.4551dup (p.Val1518CysfsTer7) c.3828dup (p.Val1277CysfsTer7) c.2379dup (p.Val794CysfsTer7) | |
2 | g.165386775del | CA2586970191 | SCN2A | c.4581del (p.Phe1527LeufsTer2) c.*2900del (n.*2900del) c.*2568del (n.*2568del) c.*5104del (n.*5104del) c.*2523del (n.*2523del) c.4185del (p.Phe1395LeufsTer2) n.8012del c.4551del (p.Phe1517LeufsTer2) c.3828del (p.Phe1276LeufsTer2) c.2379del (p.Phe793LeufsTer2) | |
2 | g.165386773T>A | CA349036206 | SCN2A | c.4579T>A (p.Phe1527Ile) c.*2898T>A (n.*2898T>A) c.*2566T>A (n.*2566T>A) c.*5102T>A (n.*5102T>A) c.*2521T>A (n.*2521T>A) c.4183T>A (p.Phe1395Ile) n.8010T>A c.4549T>A (p.Phe1517Ile) c.3826T>A (p.Phe1276Ile) c.2377T>A (p.Phe793Ile) | |
2 | g.165386773T>C | CA349036207 | SCN2A | c.4579T>C (p.Phe1527Leu) c.*2898T>C (n.*2898T>C) c.*2566T>C (n.*2566T>C) c.*5102T>C (n.*5102T>C) c.*2521T>C (n.*2521T>C) c.4183T>C (p.Phe1395Leu) n.8010T>C c.4549T>C (p.Phe1517Leu) c.3826T>C (p.Phe1276Leu) c.2377T>C (p.Phe793Leu) | |
2 | g.165386773T>G | CA349036208 | SCN2A | c.4579T>G (p.Phe1527Val) c.*2898T>G (n.*2898T>G) c.*2566T>G (n.*2566T>G) c.*5102T>G (n.*5102T>G) c.*2521T>G (n.*2521T>G) c.4183T>G (p.Phe1395Val) n.8010T>G c.4549T>G (p.Phe1517Val) c.3826T>G (p.Phe1276Val) c.2377T>G (p.Phe793Val) | ClinVar |
2 | g.165386774T>A | CA349036209 | SCN2A | c.4580T>A (p.Phe1527Tyr) c.*2899T>A (n.*2899T>A) c.*2567T>A (n.*2567T>A) c.*5103T>A (n.*5103T>A) c.*2522T>A (n.*2522T>A) c.4184T>A (p.Phe1395Tyr) n.8011T>A c.4550T>A (p.Phe1517Tyr) c.3827T>A (p.Phe1276Tyr) c.2378T>A (p.Phe793Tyr) | |
2 | g.165386774T>C | CA349036211 | SCN2A | c.4580T>C (p.Phe1527Ser) c.*2899T>C (n.*2899T>C) c.*2567T>C (n.*2567T>C) c.*5103T>C (n.*5103T>C) c.*2522T>C (n.*2522T>C) c.4184T>C (p.Phe1395Ser) n.8011T>C c.4550T>C (p.Phe1517Ser) c.3827T>C (p.Phe1276Ser) c.2378T>C (p.Phe793Ser) | gnomAD v4 |
2 | g.165386774T>G | CA349036210 | SCN2A | c.4580T>G (p.Phe1527Cys) c.*2899T>G (n.*2899T>G) c.*2567T>G (n.*2567T>G) c.*5103T>G (n.*5103T>G) c.*2522T>G (n.*2522T>G) c.4184T>G (p.Phe1395Cys) n.8011T>G c.4550T>G (p.Phe1517Cys) c.3827T>G (p.Phe1276Cys) c.2378T>G (p.Phe793Cys) | |
2 | g.165386775T>A | CA349036212 | SCN2A | c.4581T>A (p.Phe1527Leu) c.*2900T>A (n.*2900T>A) c.*2568T>A (n.*2568T>A) c.*5104T>A (n.*5104T>A) c.*2523T>A (n.*2523T>A) c.4185T>A (p.Phe1395Leu) n.8012T>A c.4551T>A (p.Phe1517Leu) c.3828T>A (p.Phe1276Leu) c.2379T>A (p.Phe793Leu) | |
2 | g.165386775T>C | CA429972442 | SCN2A | c.4581T>C (p.Phe1527=) c.*2900T>C (n.*2900T>C) c.*2568T>C (n.*2568T>C) c.*5104T>C (n.*5104T>C) c.*2523T>C (n.*2523T>C) c.4185T>C (p.Phe1395=) n.8012T>C c.4551T>C (p.Phe1517=) c.3828T>C (p.Phe1276=) c.2379T>C (p.Phe793=) | |
2 | g.165386775T>G | CA349036213 | SCN2A | c.4581T>G (p.Phe1527Leu) c.*2900T>G (n.*2900T>G) c.*2568T>G (n.*2568T>G) c.*5104T>G (n.*5104T>G) c.*2523T>G (n.*2523T>G) c.4185T>G (p.Phe1395Leu) n.8012T>G c.4551T>G (p.Phe1517Leu) c.3828T>G (p.Phe1276Leu) c.2379T>G (p.Phe793Leu) | ClinVar |
2 | g.165386776G>A | CA349036214 | SCN2A | c.4582G>A (p.Val1528Ile) c.*2901G>A (n.*2901G>A) c.*2569G>A (n.*2569G>A) c.*5105G>A (n.*5105G>A) c.*2524G>A (n.*2524G>A) c.4186G>A (p.Val1396Ile) n.8013G>A c.4552G>A (p.Val1518Ile) c.3829G>A (p.Val1277Ile) c.2380G>A (p.Val794Ile) | |
2 | g.165386776G>C | CA349036215 | SCN2A | c.4582G>C (p.Val1528Leu) c.*2901G>C (n.*2901G>C) c.*2569G>C (n.*2569G>C) c.*5105G>C (n.*5105G>C) c.*2524G>C (n.*2524G>C) c.4186G>C (p.Val1396Leu) n.8013G>C c.4552G>C (p.Val1518Leu) c.3829G>C (p.Val1277Leu) c.2380G>C (p.Val794Leu) | |
2 | g.165386776G>T | CA349036216 | SCN2A | c.4582G>T (p.Val1528Leu) c.*2901G>T (n.*2901G>T) c.*2569G>T (n.*2569G>T) c.*5105G>T (n.*5105G>T) c.*2524G>T (n.*2524G>T) c.4186G>T (p.Val1396Leu) n.8013G>T c.4552G>T (p.Val1518Leu) c.3829G>T (p.Val1277Leu) c.2380G>T (p.Val794Leu) | |
2 | g.165386777T>A | CA349036217 | SCN2A | c.4583T>A (p.Val1528Glu) c.*2902T>A (n.*2902T>A) c.*2570T>A (n.*2570T>A) c.*5106T>A (n.*5106T>A) c.*2525T>A (n.*2525T>A) c.4187T>A (p.Val1396Glu) n.8014T>A c.4553T>A (p.Val1518Glu) c.3830T>A (p.Val1277Glu) c.2381T>A (p.Val794Glu) | |
2 | g.165386777T>C | CA349036218 | SCN2A | c.4583T>C (p.Val1528Ala) c.*2902T>C (n.*2902T>C) c.*2570T>C (n.*2570T>C) c.*5106T>C (n.*5106T>C) c.*2525T>C (n.*2525T>C) c.4187T>C (p.Val1396Ala) n.8014T>C c.4553T>C (p.Val1518Ala) c.3830T>C (p.Val1277Ala) c.2381T>C (p.Val794Ala) | |
2 | g.165386777T>G | CA349036219 | SCN2A | c.4583T>G (p.Val1528Gly) c.*2902T>G (n.*2902T>G) c.*2570T>G (n.*2570T>G) c.*5106T>G (n.*5106T>G) c.*2525T>G (n.*2525T>G) c.4187T>G (p.Val1396Gly) n.8014T>G c.4553T>G (p.Val1518Gly) c.3830T>G (p.Val1277Gly) c.2381T>G (p.Val794Gly) | |
2 | g.165386778A= | CA1304563744 | SCN2A | c.4584A= (p.Val1528=) c.*2903A= (n.*2903A=) c.*2571A= (n.*2571A=) c.*5107A= (n.*5107A=) c.*2526A= (n.*2526A=) c.4188A= (p.Val1396=) n.8015A= c.4554A= (p.Val1518=) c.3831A= (p.Val1277=) c.2382A= (p.Val794=) | |
2 | g.165386778A>C | CA429972446 | SCN2A | c.4584A>C (p.Val1528=) c.*2903A>C (n.*2903A>C) c.*2571A>C (n.*2571A>C) c.*5107A>C (n.*5107A>C) c.*2526A>C (n.*2526A>C) c.4188A>C (p.Val1396=) n.8015A>C c.4554A>C (p.Val1518=) c.3831A>C (p.Val1277=) c.2382A>C (p.Val794=) | |
2 | g.165386778A>G | CA429972447 | SCN2A | c.4584A>G (p.Val1528=) c.*2903A>G (n.*2903A>G) c.*2571A>G (n.*2571A>G) c.*5107A>G (n.*5107A>G) c.*2526A>G (n.*2526A>G) c.4188A>G (p.Val1396=) n.8015A>G c.4554A>G (p.Val1518=) c.3831A>G (p.Val1277=) c.2382A>G (p.Val794=) | |
2 | g.165386778A>T | CA59750860 | SCN2A | c.4584A>T (p.Val1528=) c.*2903A>T (n.*2903A>T) c.*2571A>T (n.*2571A>T) c.*5107A>T (n.*5107A>T) c.*2526A>T (n.*2526A>T) c.4188A>T (p.Val1396=) n.8015A>T c.4554A>T (p.Val1518=) c.3831A>T (p.Val1277=) c.2382A>T (p.Val794=) | dbSNP |
2 | g.165386779A= | CA1304563745 | SCN2A | c.4585A= (p.Thr1529=) c.*2904A= (n.*2904A=) c.*2572A= (n.*2572A=) c.*5108A= (n.*5108A=) c.*2527A= (n.*2527A=) c.4189A= (p.Thr1397=) n.8016A= c.4555A= (p.Thr1519=) c.3832A= (p.Thr1278=) c.2383A= (p.Thr795=) | |
2 | g.165386779A>C | CA349036220 | SCN2A | c.4585A>C (p.Thr1529Pro) c.*2904A>C (n.*2904A>C) c.*2572A>C (n.*2572A>C) c.*5108A>C (n.*5108A>C) c.*2527A>C (n.*2527A>C) c.4189A>C (p.Thr1397Pro) n.8016A>C c.4555A>C (p.Thr1519Pro) c.3832A>C (p.Thr1278Pro) c.2383A>C (p.Thr795Pro) | |
2 | g.165386779A>G | CA349036221 | SCN2A | c.4585A>G (p.Thr1529Ala) c.*2904A>G (n.*2904A>G) c.*2572A>G (n.*2572A>G) c.*5108A>G (n.*5108A>G) c.*2527A>G (n.*2527A>G) c.4189A>G (p.Thr1397Ala) n.8016A>G c.4555A>G (p.Thr1519Ala) c.3832A>G (p.Thr1278Ala) c.2383A>G (p.Thr795Ala) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.165386779A>T | CA349036222 | SCN2A | c.4585A>T (p.Thr1529Ser) c.*2904A>T (n.*2904A>T) c.*2572A>T (n.*2572A>T) c.*5108A>T (n.*5108A>T) c.*2527A>T (n.*2527A>T) c.4189A>T (p.Thr1397Ser) n.8016A>T c.4555A>T (p.Thr1519Ser) c.3832A>T (p.Thr1278Ser) c.2383A>T (p.Thr795Ser) | |
2 | g.165386780C>A | CA349036224 | SCN2A | c.4586C>A (p.Thr1529Asn) c.*2905C>A (n.*2905C>A) c.*2573C>A (n.*2573C>A) c.*5109C>A (n.*5109C>A) c.*2528C>A (n.*2528C>A) c.4190C>A (p.Thr1397Asn) n.8017C>A c.4556C>A (p.Thr1519Asn) c.3833C>A (p.Thr1278Asn) c.2384C>A (p.Thr795Asn) | |
2 | g.165386780C>G | CA349036225 | SCN2A | c.4586C>G (p.Thr1529Ser) c.*2905C>G (n.*2905C>G) c.*2573C>G (n.*2573C>G) c.*5109C>G (n.*5109C>G) c.*2528C>G (n.*2528C>G) c.4190C>G (p.Thr1397Ser) n.8017C>G c.4556C>G (p.Thr1519Ser) c.3833C>G (p.Thr1278Ser) c.2384C>G (p.Thr795Ser) | |
2 | g.165386780C>T | CA349036223 | SCN2A | c.4586C>T (p.Thr1529Ile) c.*2905C>T (n.*2905C>T) c.*2573C>T (n.*2573C>T) c.*5109C>T (n.*5109C>T) c.*2528C>T (n.*2528C>T) c.4190C>T (p.Thr1397Ile) n.8017C>T c.4556C>T (p.Thr1519Ile) c.3833C>T (p.Thr1278Ile) c.2384C>T (p.Thr795Ile) | COSMIC COSMIC |
2 | g.165386781C>A | CA429972451 | SCN2A | c.4587C>A (p.Thr1529=) c.*2906C>A (n.*2906C>A) c.*2574C>A (n.*2574C>A) c.*5110C>A (n.*5110C>A) c.*2529C>A (n.*2529C>A) c.4191C>A (p.Thr1397=) n.8018C>A c.4557C>A (p.Thr1519=) c.3834C>A (p.Thr1278=) c.2385C>A (p.Thr795=) | |
2 | g.165386781C>G | CA429972452 | SCN2A | c.4587C>G (p.Thr1529=) c.*2906C>G (n.*2906C>G) c.*2574C>G (n.*2574C>G) c.*5110C>G (n.*5110C>G) c.*2529C>G (n.*2529C>G) c.4191C>G (p.Thr1397=) n.8018C>G c.4557C>G (p.Thr1519=) c.3834C>G (p.Thr1278=) c.2385C>G (p.Thr795=) | |
2 | g.165386781C>T | CA429972453 | SCN2A | c.4587C>T (p.Thr1529=) c.*2906C>T (n.*2906C>T) c.*2574C>T (n.*2574C>T) c.*5110C>T (n.*5110C>T) c.*2529C>T (n.*2529C>T) c.4191C>T (p.Thr1397=) n.8018C>T c.4557C>T (p.Thr1519=) c.3834C>T (p.Thr1278=) c.2385C>T (p.Thr795=) | |
2 | g.165386782A= | CA1304563746 | SCN2A | c.4588A= (p.Lys1530=) c.*2907A= (n.*2907A=) c.*2575A= (n.*2575A=) c.*5111A= (n.*5111A=) c.*2530A= (n.*2530A=) c.4192A= (p.Lys1398=) n.8019A= c.4558A= (p.Lys1520=) c.3835A= (p.Lys1279=) c.2386A= (p.Lys796=) | |
2 | g.165386782A>C | CA349036228 | SCN2A | c.4588A>C (p.Lys1530Gln) c.*2907A>C (n.*2907A>C) c.*2575A>C (n.*2575A>C) c.*5111A>C (n.*5111A>C) c.*2530A>C (n.*2530A>C) c.4192A>C (p.Lys1398Gln) n.8019A>C c.4558A>C (p.Lys1520Gln) c.3835A>C (p.Lys1279Gln) c.2386A>C (p.Lys796Gln) | |
2 | g.165386782A>G | CA349036226 | SCN2A | c.4588A>G (p.Lys1530Glu) c.*2907A>G (n.*2907A>G) c.*2575A>G (n.*2575A>G) c.*5111A>G (n.*5111A>G) c.*2530A>G (n.*2530A>G) c.4192A>G (p.Lys1398Glu) n.8019A>G c.4558A>G (p.Lys1520Glu) c.3835A>G (p.Lys1279Glu) c.2386A>G (p.Lys796Glu) | |
2 | g.165386782A>T | CA349036227 | SCN2A | c.4588A>T (p.Lys1530Ter) c.*2907A>T (n.*2907A>T) c.*2575A>T (n.*2575A>T) c.*5111A>T (n.*5111A>T) c.*2530A>T (n.*2530A>T) c.4192A>T (p.Lys1398Ter) n.8019A>T c.4558A>T (p.Lys1520Ter) c.3835A>T (p.Lys1279Ter) c.2386A>T (p.Lys796Ter) | dbSNP |
2 | g.165386783A>C | CA349036229 | SCN2A | c.4589A>C (p.Lys1530Thr) c.*2908A>C (n.*2908A>C) c.*2576A>C (n.*2576A>C) c.*5112A>C (n.*5112A>C) c.*2531A>C (n.*2531A>C) c.4193A>C (p.Lys1398Thr) n.8020A>C c.4559A>C (p.Lys1520Thr) c.3836A>C (p.Lys1279Thr) c.2387A>C (p.Lys796Thr) | |
2 | g.165386783A>G | CA349036230 | SCN2A | c.4589A>G (p.Lys1530Arg) c.*2908A>G (n.*2908A>G) c.*2576A>G (n.*2576A>G) c.*5112A>G (n.*5112A>G) c.*2531A>G (n.*2531A>G) c.4193A>G (p.Lys1398Arg) n.8020A>G c.4559A>G (p.Lys1520Arg) c.3836A>G (p.Lys1279Arg) c.2387A>G (p.Lys796Arg) | |
2 | g.165386783A>T | CA349036231 | SCN2A | c.4589A>T (p.Lys1530Ile) c.*2908A>T (n.*2908A>T) c.*2576A>T (n.*2576A>T) c.*5112A>T (n.*5112A>T) c.*2531A>T (n.*2531A>T) c.4193A>T (p.Lys1398Ile) n.8020A>T c.4559A>T (p.Lys1520Ile) c.3836A>T (p.Lys1279Ile) c.2387A>T (p.Lys796Ile) | |
2 | g.165386784A= | CA1304563747 | SCN2A | c.4590A= (p.Lys1530=) c.*2909A= (n.*2909A=) c.*2577A= (n.*2577A=) c.*5113A= (n.*5113A=) c.*2532A= (n.*2532A=) c.4194A= (p.Lys1398=) n.8021A= c.4560A= (p.Lys1520=) c.3837A= (p.Lys1279=) c.2388A= (p.Lys796=) | |
2 | g.165386784A>C | CA349036232 | SCN2A | c.4590A>C (p.Lys1530Asn) c.*2909A>C (n.*2909A>C) c.*2577A>C (n.*2577A>C) c.*5113A>C (n.*5113A>C) c.*2532A>C (n.*2532A>C) c.4194A>C (p.Lys1398Asn) n.8021A>C c.4560A>C (p.Lys1520Asn) c.3837A>C (p.Lys1279Asn) c.2388A>C (p.Lys796Asn) | |
2 | g.165386784A>G | CA429972457 | SCN2A | c.4590A>G (p.Lys1530=) c.*2909A>G (n.*2909A>G) c.*2577A>G (n.*2577A>G) c.*5113A>G (n.*5113A>G) c.*2532A>G (n.*2532A>G) c.4194A>G (p.Lys1398=) n.8021A>G c.4560A>G (p.Lys1520=) c.3837A>G (p.Lys1279=) c.2388A>G (p.Lys796=) | dbSNP |
2 | g.165386784A>T | CA349036233 | SCN2A | c.4590A>T (p.Lys1530Asn) c.*2909A>T (n.*2909A>T) c.*2577A>T (n.*2577A>T) c.*5113A>T (n.*5113A>T) c.*2532A>T (n.*2532A>T) c.4194A>T (p.Lys1398Asn) n.8021A>T c.4560A>T (p.Lys1520Asn) c.3837A>T (p.Lys1279Asn) c.2388A>T (p.Lys796Asn) | |
2 | g.165386785C>A | CA349036234 | SCN2A | c.4591C>A (p.Gln1531Lys) c.*2910C>A (n.*2910C>A) c.*2578C>A (n.*2578C>A) c.*5114C>A (n.*5114C>A) c.*2533C>A (n.*2533C>A) c.4195C>A (p.Gln1399Lys) n.8022C>A c.4561C>A (p.Gln1521Lys) c.3838C>A (p.Gln1280Lys) c.2389C>A (p.Gln797Lys) | |
2 | g.165386785C= | CA1304563748 | SCN2A | c.4591C= (p.Gln1531=) c.*2910C= (n.*2910C=) c.*2578C= (n.*2578C=) c.*5114C= (n.*5114C=) c.*2533C= (n.*2533C=) c.4195C= (p.Gln1399=) n.8022C= c.4561C= (p.Gln1521=) c.3838C= (p.Gln1280=) c.2389C= (p.Gln797=) | |
2 | g.165386785C>G | CA349036235 | SCN2A | c.4591C>G (p.Gln1531Glu) c.*2910C>G (n.*2910C>G) c.*2578C>G (n.*2578C>G) c.*5114C>G (n.*5114C>G) c.*2533C>G (n.*2533C>G) c.4195C>G (p.Gln1399Glu) n.8022C>G c.4561C>G (p.Gln1521Glu) c.3838C>G (p.Gln1280Glu) c.2389C>G (p.Gln797Glu) | |
2 | g.165386785C>T | CA349036236 | SCN2A | c.4591C>T (p.Gln1531Ter) c.*2910C>T (n.*2910C>T) c.*2578C>T (n.*2578C>T) c.*5114C>T (n.*5114C>T) c.*2533C>T (n.*2533C>T) c.4195C>T (p.Gln1399Ter) n.8022C>T c.4561C>T (p.Gln1521Ter) c.3838C>T (p.Gln1280Ter) c.2389C>T (p.Gln797Ter) | ClinVar dbSNP |
2 | g.165386786A>C | CA349036237 | SCN2A | c.4592A>C (p.Gln1531Pro) c.*2911A>C (n.*2911A>C) c.*2579A>C (n.*2579A>C) c.*5115A>C (n.*5115A>C) c.*2534A>C (n.*2534A>C) c.4196A>C (p.Gln1399Pro) n.8023A>C c.4562A>C (p.Gln1521Pro) c.3839A>C (p.Gln1280Pro) c.2390A>C (p.Gln797Pro) | |
2 | g.165386786A>G | CA349036238 | SCN2A | c.4592A>G (p.Gln1531Arg) c.*2911A>G (n.*2911A>G) c.*2579A>G (n.*2579A>G) c.*5115A>G (n.*5115A>G) c.*2534A>G (n.*2534A>G) c.4196A>G (p.Gln1399Arg) n.8023A>G c.4562A>G (p.Gln1521Arg) c.3839A>G (p.Gln1280Arg) c.2390A>G (p.Gln797Arg) | |
2 | g.165386786A>T | CA349036239 | SCN2A | c.4592A>T (p.Gln1531Leu) c.*2911A>T (n.*2911A>T) c.*2579A>T (n.*2579A>T) c.*5115A>T (n.*5115A>T) c.*2534A>T (n.*2534A>T) c.4196A>T (p.Gln1399Leu) n.8023A>T c.4562A>T (p.Gln1521Leu) c.3839A>T (p.Gln1280Leu) c.2390A>T (p.Gln797Leu) | |
2 | g.165386787A>C | CA349036241 | SCN2A | c.4593A>C (p.Gln1531His) c.*2912A>C (n.*2912A>C) c.*2580A>C (n.*2580A>C) c.*5116A>C (n.*5116A>C) c.*2535A>C (n.*2535A>C) c.4197A>C (p.Gln1399His) n.8024A>C c.4563A>C (p.Gln1521His) c.3840A>C (p.Gln1280His) c.2391A>C (p.Gln797His) | |
2 | g.165386787A>G | CA429972468 | SCN2A | c.4593A>G (p.Gln1531=) c.*2912A>G (n.*2912A>G) c.*2580A>G (n.*2580A>G) c.*5116A>G (n.*5116A>G) c.*2535A>G (n.*2535A>G) c.4197A>G (p.Gln1399=) n.8024A>G c.4563A>G (p.Gln1521=) c.3840A>G (p.Gln1280=) c.2391A>G (p.Gln797=) | |
2 | g.165386787A>T | CA349036240 | SCN2A | c.4593A>T (p.Gln1531His) c.*2912A>T (n.*2912A>T) c.*2580A>T (n.*2580A>T) c.*5116A>T (n.*5116A>T) c.*2535A>T (n.*2535A>T) c.4197A>T (p.Gln1399His) n.8024A>T c.4563A>T (p.Gln1521His) c.3840A>T (p.Gln1280His) c.2391A>T (p.Gln797His) | ClinVar dbSNP |
2 | g.165386788G>A | CA349036242 | SCN2A | c.4594G>A (p.Val1532Ile) c.*2913G>A (n.*2913G>A) c.*2581G>A (n.*2581G>A) c.*5117G>A (n.*5117G>A) c.*2536G>A (n.*2536G>A) c.4198G>A (p.Val1400Ile) n.8025G>A c.4564G>A (p.Val1522Ile) c.3841G>A (p.Val1281Ile) c.2392G>A (p.Val798Ile) | |
2 | g.165386788G>C | CA349036243 | SCN2A | c.4594G>C (p.Val1532Leu) c.*2913G>C (n.*2913G>C) c.*2581G>C (n.*2581G>C) c.*5117G>C (n.*5117G>C) c.*2536G>C (n.*2536G>C) c.4198G>C (p.Val1400Leu) n.8025G>C c.4564G>C (p.Val1522Leu) c.3841G>C (p.Val1281Leu) c.2392G>C (p.Val798Leu) | |
2 | g.165386788G>T | CA349036244 | SCN2A | c.4594G>T (p.Val1532Phe) c.*2913G>T (n.*2913G>T) c.*2581G>T (n.*2581G>T) c.*5117G>T (n.*5117G>T) c.*2536G>T (n.*2536G>T) c.4198G>T (p.Val1400Phe) n.8025G>T c.4564G>T (p.Val1522Phe) c.3841G>T (p.Val1281Phe) c.2392G>T (p.Val798Phe) | |
2 | g.165386789T>A | CA349036245 | SCN2A | c.4595T>A (p.Val1532Asp) c.*2914T>A (n.*2914T>A) c.*2582T>A (n.*2582T>A) c.*5118T>A (n.*5118T>A) c.*2537T>A (n.*2537T>A) c.4199T>A (p.Val1400Asp) n.8026T>A c.4565T>A (p.Val1522Asp) c.3842T>A (p.Val1281Asp) c.2393T>A (p.Val798Asp) | |
2 | g.165386789T>C | CA349036246 | SCN2A | c.4595T>C (p.Val1532Ala) c.*2914T>C (n.*2914T>C) c.*2582T>C (n.*2582T>C) c.*5118T>C (n.*5118T>C) c.*2537T>C (n.*2537T>C) c.4199T>C (p.Val1400Ala) n.8026T>C c.4565T>C (p.Val1522Ala) c.3842T>C (p.Val1281Ala) c.2393T>C (p.Val798Ala) | gnomAD v4 |
2 | g.165386789T>G | CA349036247 | SCN2A | c.4595T>G (p.Val1532Gly) c.*2914T>G (n.*2914T>G) c.*2582T>G (n.*2582T>G) c.*5118T>G (n.*5118T>G) c.*2537T>G (n.*2537T>G) c.4199T>G (p.Val1400Gly) n.8026T>G c.4565T>G (p.Val1522Gly) c.3842T>G (p.Val1281Gly) c.2393T>G (p.Val798Gly) | |
2 | g.165386790del | CA2580614379 | SCN2A | c.4596del (p.Phe1533LeufsTer6) c.*2915del (n.*2915del) c.*2583del (n.*2583del) c.*5119del (n.*5119del) c.*2538del (n.*2538del) c.4200del (p.Phe1401LeufsTer6) n.8027del c.4566del (p.Phe1523LeufsTer6) c.3843del (p.Phe1282LeufsTer6) c.2394del (p.Phe799LeufsTer6) | ClinVar |
2 | g.165386790C>A | CA1940305 | SCN2A | c.4596C>A (p.Val1532=) c.*2915C>A (n.*2915C>A) c.*2583C>A (n.*2583C>A) c.*5119C>A (n.*5119C>A) c.*2538C>A (n.*2538C>A) c.4200C>A (p.Val1400=) n.8027C>A c.4566C>A (p.Val1522=) c.3843C>A (p.Val1281=) c.2394C>A (p.Val798=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.165386790C= | CA1304563749 | SCN2A | c.4596C= (p.Val1532=) c.*2915C= (n.*2915C=) c.*2583C= (n.*2583C=) c.*5119C= (n.*5119C=) c.*2538C= (n.*2538C=) c.4200C= (p.Val1400=) n.8027C= c.4566C= (p.Val1522=) c.3843C= (p.Val1281=) c.2394C= (p.Val798=) | |
2 | g.165386790C>G | CA429972471 | SCN2A | c.4596C>G (p.Val1532=) c.*2915C>G (n.*2915C>G) c.*2583C>G (n.*2583C>G) c.*5119C>G (n.*5119C>G) c.*2538C>G (n.*2538C>G) c.4200C>G (p.Val1400=) n.8027C>G c.4566C>G (p.Val1522=) c.3843C>G (p.Val1281=) c.2394C>G (p.Val798=) | ClinVar dbSNP |
2 | g.165386790C>T | CA429972473 | SCN2A | c.4596C>T (p.Val1532=) c.*2915C>T (n.*2915C>T) c.*2583C>T (n.*2583C>T) c.*5119C>T (n.*5119C>T) c.*2538C>T (n.*2538C>T) c.4200C>T (p.Val1400=) n.8027C>T c.4566C>T (p.Val1522=) c.3843C>T (p.Val1281=) c.2394C>T (p.Val798=) | COSMIC COSMIC |
2 | g.165386791T>A | CA349036248 | SCN2A | c.4597T>A (p.Phe1533Ile) c.*2916T>A (n.*2916T>A) c.*2584T>A (n.*2584T>A) c.*5120T>A (n.*5120T>A) c.*2539T>A (n.*2539T>A) c.4201T>A (p.Phe1401Ile) n.8028T>A c.4567T>A (p.Phe1523Ile) c.3844T>A (p.Phe1282Ile) c.2395T>A (p.Phe799Ile) | |
2 | g.165386791T>C | CA349036249 | SCN2A | c.4597T>C (p.Phe1533Leu) c.*2916T>C (n.*2916T>C) c.*2584T>C (n.*2584T>C) c.*5120T>C (n.*5120T>C) c.*2539T>C (n.*2539T>C) c.4201T>C (p.Phe1401Leu) n.8028T>C c.4567T>C (p.Phe1523Leu) c.3844T>C (p.Phe1282Leu) c.2395T>C (p.Phe799Leu) | |
2 | g.165386791T>G | CA349036250 | SCN2A | c.4597T>G (p.Phe1533Val) c.*2916T>G (n.*2916T>G) c.*2584T>G (n.*2584T>G) c.*5120T>G (n.*5120T>G) c.*2539T>G (n.*2539T>G) c.4201T>G (p.Phe1401Val) n.8028T>G c.4567T>G (p.Phe1523Val) c.3844T>G (p.Phe1282Val) c.2395T>G (p.Phe799Val) | dbSNP |
2 | g.165386791T= | CA1304563750 | SCN2A | c.4597T= (p.Phe1533=) c.*2916T= (n.*2916T=) c.*2584T= (n.*2584T=) c.*5120T= (n.*5120T=) c.*2539T= (n.*2539T=) c.4201T= (p.Phe1401=) n.8028T= c.4567T= (p.Phe1523=) c.3844T= (p.Phe1282=) c.2395T= (p.Phe799=) | |
2 | g.165386792T>A | CA349036251 | SCN2A | c.4598T>A (p.Phe1533Tyr) c.*2917T>A (n.*2917T>A) c.*2585T>A (n.*2585T>A) c.*5121T>A (n.*5121T>A) c.*2540T>A (n.*2540T>A) c.4202T>A (p.Phe1401Tyr) n.8029T>A c.4568T>A (p.Phe1523Tyr) c.3845T>A (p.Phe1282Tyr) c.2396T>A (p.Phe799Tyr) | |
2 | g.165386792T>C | CA349036252 | SCN2A | c.4598T>C (p.Phe1533Ser) c.*2917T>C (n.*2917T>C) c.*2585T>C (n.*2585T>C) c.*5121T>C (n.*5121T>C) c.*2540T>C (n.*2540T>C) c.4202T>C (p.Phe1401Ser) n.8029T>C c.4568T>C (p.Phe1523Ser) c.3845T>C (p.Phe1282Ser) c.2396T>C (p.Phe799Ser) | |
2 | g.165386792T>G | CA349036253 | SCN2A | c.4598T>G (p.Phe1533Cys) c.*2917T>G (n.*2917T>G) c.*2585T>G (n.*2585T>G) c.*5121T>G (n.*5121T>G) c.*2540T>G (n.*2540T>G) c.4202T>G (p.Phe1401Cys) n.8029T>G c.4568T>G (p.Phe1523Cys) c.3845T>G (p.Phe1282Cys) c.2396T>G (p.Phe799Cys) | |
2 | g.165386793T>A | CA349036255 | SCN2A | c.4599T>A (p.Phe1533Leu) c.*2918T>A (n.*2918T>A) c.*2586T>A (n.*2586T>A) c.*5122T>A (n.*5122T>A) c.*2541T>A (n.*2541T>A) c.4203T>A (p.Phe1401Leu) n.8030T>A c.4569T>A (p.Phe1523Leu) c.3846T>A (p.Phe1282Leu) c.2397T>A (p.Phe799Leu) | |
2 | g.165386793T>C | CA429972481 | SCN2A | c.4599T>C (p.Phe1533=) c.*2918T>C (n.*2918T>C) c.*2586T>C (n.*2586T>C) c.*5122T>C (n.*5122T>C) c.*2541T>C (n.*2541T>C) c.4203T>C (p.Phe1401=) n.8030T>C c.4569T>C (p.Phe1523=) c.3846T>C (p.Phe1282=) c.2397T>C (p.Phe799=) | |
2 | g.165386793T>G | CA349036254 | SCN2A | c.4599T>G (p.Phe1533Leu) c.*2918T>G (n.*2918T>G) c.*2586T>G (n.*2586T>G) c.*5122T>G (n.*5122T>G) c.*2541T>G (n.*2541T>G) c.4203T>G (p.Phe1401Leu) n.8030T>G c.4569T>G (p.Phe1523Leu) c.3846T>G (p.Phe1282Leu) c.2397T>G (p.Phe799Leu) | |
2 | g.165386794G>A | CA349036256 | SCN2A | c.4600G>A (p.Asp1534Asn) c.*2919G>A (n.*2919G>A) c.*2587G>A (n.*2587G>A) c.*5123G>A (n.*5123G>A) c.*2542G>A (n.*2542G>A) c.4204G>A (p.Asp1402Asn) n.8031G>A c.4570G>A (p.Asp1524Asn) c.3847G>A (p.Asp1283Asn) c.2398G>A (p.Asp800Asn) | |
2 | g.165386794G>C | CA349036257 | SCN2A | c.4600G>C (p.Asp1534His) c.*2919G>C (n.*2919G>C) c.*2587G>C (n.*2587G>C) c.*5123G>C (n.*5123G>C) c.*2542G>C (n.*2542G>C) c.4204G>C (p.Asp1402His) n.8031G>C c.4570G>C (p.Asp1524His) c.3847G>C (p.Asp1283His) c.2398G>C (p.Asp800His) | |
2 | g.165386794G>T | CA349036258 | SCN2A | c.4600G>T (p.Asp1534Tyr) c.*2919G>T (n.*2919G>T) c.*2587G>T (n.*2587G>T) c.*5123G>T (n.*5123G>T) c.*2542G>T (n.*2542G>T) c.4204G>T (p.Asp1402Tyr) n.8031G>T c.4570G>T (p.Asp1524Tyr) c.3847G>T (p.Asp1283Tyr) c.2398G>T (p.Asp800Tyr) | |
2 | g.165386795A>C | CA349036259 | SCN2A | c.4601A>C (p.Asp1534Ala) c.*2920A>C (n.*2920A>C) c.*2588A>C (n.*2588A>C) c.*5124A>C (n.*5124A>C) c.*2543A>C (n.*2543A>C) c.4205A>C (p.Asp1402Ala) n.8032A>C c.4571A>C (p.Asp1524Ala) c.3848A>C (p.Asp1283Ala) c.2399A>C (p.Asp800Ala) | |
2 | g.165386795A>G | CA349036260 | SCN2A | c.4601A>G (p.Asp1534Gly) c.*2920A>G (n.*2920A>G) c.*2588A>G (n.*2588A>G) c.*5124A>G (n.*5124A>G) c.*2543A>G (n.*2543A>G) c.4205A>G (p.Asp1402Gly) n.8032A>G c.4571A>G (p.Asp1524Gly) c.3848A>G (p.Asp1283Gly) c.2399A>G (p.Asp800Gly) | |
2 | g.165386795A>T | CA349036261 | SCN2A | c.4601A>T (p.Asp1534Val) c.*2920A>T (n.*2920A>T) c.*2588A>T (n.*2588A>T) c.*5124A>T (n.*5124A>T) c.*2543A>T (n.*2543A>T) c.4205A>T (p.Asp1402Val) n.8032A>T c.4571A>T (p.Asp1524Val) c.3848A>T (p.Asp1283Val) c.2399A>T (p.Asp800Val) | |
2 | g.165386796T>A | CA349036262 | SCN2A | c.4602T>A (p.Asp1534Glu) c.*2921T>A (n.*2921T>A) c.*2589T>A (n.*2589T>A) c.*5125T>A (n.*5125T>A) c.*2544T>A (n.*2544T>A) c.4206T>A (p.Asp1402Glu) n.8033T>A c.4572T>A (p.Asp1524Glu) c.3849T>A (p.Asp1283Glu) c.2400T>A (p.Asp800Glu) | |
2 | g.165386796T>C | CA429972485 | SCN2A | c.4602T>C (p.Asp1534=) c.*2921T>C (n.*2921T>C) c.*2589T>C (n.*2589T>C) c.*5125T>C (n.*5125T>C) c.*2544T>C (n.*2544T>C) c.4206T>C (p.Asp1402=) n.8033T>C c.4572T>C (p.Asp1524=) c.3849T>C (p.Asp1283=) c.2400T>C (p.Asp800=) | gnomAD v4 |
2 | g.165386796T>G | CA349036263 | SCN2A | c.4602T>G (p.Asp1534Glu) c.*2921T>G (n.*2921T>G) c.*2589T>G (n.*2589T>G) c.*5125T>G (n.*5125T>G) c.*2544T>G (n.*2544T>G) c.4206T>G (p.Asp1402Glu) n.8033T>G c.4572T>G (p.Asp1524Glu) c.3849T>G (p.Asp1283Glu) c.2400T>G (p.Asp800Glu) | |
2 | g.165386797A= | CA1304563751 | SCN2A | c.4603A= (p.Ile1535=) c.*2922A= (n.*2922A=) c.*2590A= (n.*2590A=) c.*5126A= (n.*5126A=) c.*2545A= (n.*2545A=) c.4207A= (p.Ile1403=) n.8034A= c.4573A= (p.Ile1525=) c.3850A= (p.Ile1284=) c.2401A= (p.Ile801=) | |
2 | g.165386797A>C | CA349036264 | SCN2A | c.4603A>C (p.Ile1535Leu) c.*2922A>C (n.*2922A>C) c.*2590A>C (n.*2590A>C) c.*5126A>C (n.*5126A>C) c.*2545A>C (n.*2545A>C) c.4207A>C (p.Ile1403Leu) n.8034A>C c.4573A>C (p.Ile1525Leu) c.3850A>C (p.Ile1284Leu) c.2401A>C (p.Ile801Leu) | |
2 | g.165386797A>G | CA349036266 | SCN2A | c.4603A>G (p.Ile1535Val) c.*2922A>G (n.*2922A>G) c.*2590A>G (n.*2590A>G) c.*5126A>G (n.*5126A>G) c.*2545A>G (n.*2545A>G) c.4207A>G (p.Ile1403Val) n.8034A>G c.4573A>G (p.Ile1525Val) c.3850A>G (p.Ile1284Val) c.2401A>G (p.Ile801Val) | ClinVar dbSNP |
2 | g.165386797A>T | CA349036265 | SCN2A | c.4603A>T (p.Ile1535Phe) c.*2922A>T (n.*2922A>T) c.*2590A>T (n.*2590A>T) c.*5126A>T (n.*5126A>T) c.*2545A>T (n.*2545A>T) c.4207A>T (p.Ile1403Phe) n.8034A>T c.4573A>T (p.Ile1525Phe) c.3850A>T (p.Ile1284Phe) c.2401A>T (p.Ile801Phe) | |
2 | g.165386798T>A | CA349036267 | SCN2A | c.4604T>A (p.Ile1535Asn) c.*2923T>A (n.*2923T>A) c.*2591T>A (n.*2591T>A) c.*5127T>A (n.*5127T>A) c.*2546T>A (n.*2546T>A) c.4208T>A (p.Ile1403Asn) n.8035T>A c.4574T>A (p.Ile1525Asn) c.3851T>A (p.Ile1284Asn) c.2402T>A (p.Ile801Asn) | |
2 | g.165386798T>C | CA349036268 | SCN2A | c.4604T>C (p.Ile1535Thr) c.*2923T>C (n.*2923T>C) c.*2591T>C (n.*2591T>C) c.*5127T>C (n.*5127T>C) c.*2546T>C (n.*2546T>C) c.4208T>C (p.Ile1403Thr) n.8035T>C c.4574T>C (p.Ile1525Thr) c.3851T>C (p.Ile1284Thr) c.2402T>C (p.Ile801Thr) | |
2 | g.165386798T>G | CA349036269 | SCN2A | c.4604T>G (p.Ile1535Ser) c.*2923T>G (n.*2923T>G) c.*2591T>G (n.*2591T>G) c.*5127T>G (n.*5127T>G) c.*2546T>G (n.*2546T>G) c.4208T>G (p.Ile1403Ser) n.8035T>G c.4574T>G (p.Ile1525Ser) c.3851T>G (p.Ile1284Ser) c.2402T>G (p.Ile801Ser) | |
2 | g.165386799C>A | CA429972490 | SCN2A | c.4605C>A (p.Ile1535=) c.*2924C>A (n.*2924C>A) c.*2592C>A (n.*2592C>A) c.*5128C>A (n.*5128C>A) c.*2547C>A (n.*2547C>A) c.4209C>A (p.Ile1403=) n.8036C>A c.4575C>A (p.Ile1525=) c.3852C>A (p.Ile1284=) c.2403C>A (p.Ile801=) | |
2 | g.165386799C>G | CA349036270 | SCN2A | c.4605C>G (p.Ile1535Met) c.*2924C>G (n.*2924C>G) c.*2592C>G (n.*2592C>G) c.*5128C>G (n.*5128C>G) c.*2547C>G (n.*2547C>G) c.4209C>G (p.Ile1403Met) n.8036C>G c.4575C>G (p.Ile1525Met) c.3852C>G (p.Ile1284Met) c.2403C>G (p.Ile801Met) | |
2 | g.165386799C>T | CA429972491 | SCN2A | c.4605C>T (p.Ile1535=) c.*2924C>T (n.*2924C>T) c.*2592C>T (n.*2592C>T) c.*5128C>T (n.*5128C>T) c.*2547C>T (n.*2547C>T) c.4209C>T (p.Ile1403=) n.8036C>T c.4575C>T (p.Ile1525=) c.3852C>T (p.Ile1284=) c.2403C>T (p.Ile801=) | |
2 | g.165386800A= | CA1304563752 | SCN2A | c.4606A= (p.Ser1536=) c.*2925A= (n.*2925A=) c.*2593A= (n.*2593A=) c.*5129A= (n.*5129A=) c.*2548A= (n.*2548A=) c.4210A= (p.Ser1404=) n.8037A= c.4576A= (p.Ser1526=) c.3853A= (p.Ser1285=) c.2404A= (p.Ser802=) | |
2 | g.165386800A>C | CA349036271 | SCN2A | c.4606A>C (p.Ser1536Arg) c.*2925A>C (n.*2925A>C) c.*2593A>C (n.*2593A>C) c.*5129A>C (n.*5129A>C) c.*2548A>C (n.*2548A>C) c.4210A>C (p.Ser1404Arg) n.8037A>C c.4576A>C (p.Ser1526Arg) c.3853A>C (p.Ser1285Arg) c.2404A>C (p.Ser802Arg) | |
2 | g.165386800A>G | CA349036273 | SCN2A | c.4606A>G (p.Ser1536Gly) c.*2925A>G (n.*2925A>G) c.*2593A>G (n.*2593A>G) c.*5129A>G (n.*5129A>G) c.*2548A>G (n.*2548A>G) c.4210A>G (p.Ser1404Gly) n.8037A>G c.4576A>G (p.Ser1526Gly) c.3853A>G (p.Ser1285Gly) c.2404A>G (p.Ser802Gly) | ClinVar dbSNP |
2 | g.165386800A>T | CA349036272 | SCN2A | c.4606A>T (p.Ser1536Cys) c.*2925A>T (n.*2925A>T) c.*2593A>T (n.*2593A>T) c.*5129A>T (n.*5129A>T) c.*2548A>T (n.*2548A>T) c.4210A>T (p.Ser1404Cys) n.8037A>T c.4576A>T (p.Ser1526Cys) c.3853A>T (p.Ser1285Cys) c.2404A>T (p.Ser802Cys) | |
2 | g.165386801G>A | CA59750878 | SCN2A | c.4607G>A (p.Ser1536Asn) c.*2926G>A (n.*2926G>A) c.*2594G>A (n.*2594G>A) c.*5130G>A (n.*5130G>A) c.*2549G>A (n.*2549G>A) c.4211G>A (p.Ser1404Asn) n.8038G>A c.4577G>A (p.Ser1526Asn) c.3854G>A (p.Ser1285Asn) c.2405G>A (p.Ser802Asn) | ClinVar dbSNP |
2 | g.165386801G>C | CA349036274 | SCN2A | c.4607G>C (p.Ser1536Thr) c.*2926G>C (n.*2926G>C) c.*2594G>C (n.*2594G>C) c.*5130G>C (n.*5130G>C) c.*2549G>C (n.*2549G>C) c.4211G>C (p.Ser1404Thr) n.8038G>C c.4577G>C (p.Ser1526Thr) c.3854G>C (p.Ser1285Thr) c.2405G>C (p.Ser802Thr) | |
2 | g.165386801G= | CA1304563753 | SCN2A | c.4607G= (p.Ser1536=) c.*2926G= (n.*2926G=) c.*2594G= (n.*2594G=) c.*5130G= (n.*5130G=) c.*2549G= (n.*2549G=) c.4211G= (p.Ser1404=) n.8038G= c.4577G= (p.Ser1526=) c.3854G= (p.Ser1285=) c.2405G= (p.Ser802=) | |
2 | g.165386801G>T | CA349036275 | SCN2A | c.4607G>T (p.Ser1536Ile) c.*2926G>T (n.*2926G>T) c.*2594G>T (n.*2594G>T) c.*5130G>T (n.*5130G>T) c.*2549G>T (n.*2549G>T) c.4211G>T (p.Ser1404Ile) n.8038G>T c.4577G>T (p.Ser1526Ile) c.3854G>T (p.Ser1285Ile) c.2405G>T (p.Ser802Ile) | |
2 | g.165386802C>A | CA349036276 | SCN2A | c.4608C>A (p.Ser1536Arg) c.*2927C>A (n.*2927C>A) c.*2595C>A (n.*2595C>A) c.*5131C>A (n.*5131C>A) c.*2550C>A (n.*2550C>A) c.4212C>A (p.Ser1404Arg) n.8039C>A c.4578C>A (p.Ser1526Arg) c.3855C>A (p.Ser1285Arg) c.2406C>A (p.Ser802Arg) | |
2 | g.165386802C= | CA1304563754 | SCN2A | c.4608C= (p.Ser1536=) c.*2927C= (n.*2927C=) c.*2595C= (n.*2595C=) c.*5131C= (n.*5131C=) c.*2550C= (n.*2550C=) c.4212C= (p.Ser1404=) n.8039C= c.4578C= (p.Ser1526=) c.3855C= (p.Ser1285=) c.2406C= (p.Ser802=) | |
2 | g.165386802C>G | CA349036277 | SCN2A | c.4608C>G (p.Ser1536Arg) c.*2927C>G (n.*2927C>G) c.*2595C>G (n.*2595C>G) c.*5131C>G (n.*5131C>G) c.*2550C>G (n.*2550C>G) c.4212C>G (p.Ser1404Arg) n.8039C>G c.4578C>G (p.Ser1526Arg) c.3855C>G (p.Ser1285Arg) c.2406C>G (p.Ser802Arg) | |
2 | g.165386802C>T | CA1940306 | SCN2A | c.4608C>T (p.Ser1536=) c.*2927C>T (n.*2927C>T) c.*2595C>T (n.*2595C>T) c.*5131C>T (n.*5131C>T) c.*2550C>T (n.*2550C>T) c.4212C>T (p.Ser1404=) n.8039C>T c.4578C>T (p.Ser1526=) c.3855C>T (p.Ser1285=) c.2406C>T (p.Ser802=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.165386803A>C | CA349036278 | SCN2A | c.4609A>C (p.Ile1537Leu) c.*2928A>C (n.*2928A>C) c.*2596A>C (n.*2596A>C) c.*5132A>C (n.*5132A>C) c.*2551A>C (n.*2551A>C) c.4213A>C (p.Ile1405Leu) n.8040A>C c.4579A>C (p.Ile1527Leu) c.3856A>C (p.Ile1286Leu) c.2407A>C (p.Ile803Leu) | |
2 | g.165386803A>G | CA349036279 | SCN2A | c.4609A>G (p.Ile1537Val) c.*2928A>G (n.*2928A>G) c.*2596A>G (n.*2596A>G) c.*5132A>G (n.*5132A>G) c.*2551A>G (n.*2551A>G) c.4213A>G (p.Ile1405Val) n.8040A>G c.4579A>G (p.Ile1527Val) c.3856A>G (p.Ile1286Val) c.2407A>G (p.Ile803Val) | gnomAD v4 |
2 | g.165386803A>T | CA349036280 | SCN2A | c.4609A>T (p.Ile1537Phe) c.*2928A>T (n.*2928A>T) c.*2596A>T (n.*2596A>T) c.*5132A>T (n.*5132A>T) c.*2551A>T (n.*2551A>T) c.4213A>T (p.Ile1405Phe) n.8040A>T c.4579A>T (p.Ile1527Phe) c.3856A>T (p.Ile1286Phe) c.2407A>T (p.Ile803Phe) | |
2 | g.165386804T>A | CA349036281 | SCN2A | c.4610T>A (p.Ile1537Asn) c.*2929T>A (n.*2929T>A) c.*2597T>A (n.*2597T>A) c.*5133T>A (n.*5133T>A) c.*2552T>A (n.*2552T>A) c.4214T>A (p.Ile1405Asn) n.8041T>A c.4580T>A (p.Ile1527Asn) c.3857T>A (p.Ile1286Asn) c.2408T>A (p.Ile803Asn) | |
2 | g.165386804T>C | CA349036282 | SCN2A | c.4610T>C (p.Ile1537Thr) c.*2929T>C (n.*2929T>C) c.*2597T>C (n.*2597T>C) c.*5133T>C (n.*5133T>C) c.*2552T>C (n.*2552T>C) c.4214T>C (p.Ile1405Thr) n.8041T>C c.4580T>C (p.Ile1527Thr) c.3857T>C (p.Ile1286Thr) c.2408T>C (p.Ile803Thr) | ClinVar dbSNP |
2 | g.165386804T>G | CA317982 | SCN2A | c.4610T>G (p.Ile1537Ser) c.*2929T>G (n.*2929T>G) c.*2597T>G (n.*2597T>G) c.*5133T>G (n.*5133T>G) c.*2552T>G (n.*2552T>G) c.4214T>G (p.Ile1405Ser) n.8041T>G c.4580T>G (p.Ile1527Ser) c.3857T>G (p.Ile1286Ser) c.2408T>G (p.Ile803Ser) | dbSNP |
2 | g.165386804T= | CA1304563756 | SCN2A | c.4610T= (p.Ile1537=) c.*2929T= (n.*2929T=) c.*2597T= (n.*2597T=) c.*5133T= (n.*5133T=) c.*2552T= (n.*2552T=) c.4214T= (p.Ile1405=) n.8041T= c.4580T= (p.Ile1527=) c.3857T= (p.Ile1286=) c.2408T= (p.Ile803=) | |
2 | g.165386804_165386808delinsGCATC | CA318182 | SCN2A | c.4610_4614delinsGCATC (p.Ile1537_Met1538delinsSerIle) c.*2929_*2933delinsGCATC (n.*2929_*2933delinsGCATC) c.*2597_*2601delinsGCATC (n.*2597_*2601delinsGCATC) c.*5133_*5137delinsGCATC (n.*5133_*5137delinsGCATC) c.*2552_*2556delinsGCATC (n.*2552_*2556delinsGCATC) c.4214_4218delinsGCATC (p.Ile1405_Met1406delinsSerIle) n.8041_8045delinsGCATC c.4580_4584delinsGCATC (p.Ile1527_Met1528delinsSerIle) c.3857_3861delinsGCATC (p.Ile1286_Met1287delinsSerIle) c.2408_2412delinsGCATC (p.Ile803_Met804delinsSerIle) | ClinVar dbSNP |
2 | g.165386804_165386808delinsTCATG | CA1304563755 | SCN2A | c.4610_4614delinsTCATG (p.Ile1537=) c.*2929_*2933delinsTCATG (n.*2929_*2933delinsTCATG) c.*2597_*2601delinsTCATG (n.*2597_*2601delinsTCATG) c.*5133_*5137delinsTCATG (n.*5133_*5137delinsTCATG) c.*2552_*2556delinsTCATG (n.*2552_*2556delinsTCATG) c.4214_4218delinsTCATG (p.Ile1405=) n.8041_8045delinsTCATG c.4580_4584delinsTCATG (p.Ile1527=) c.3857_3861delinsTCATG (p.Ile1286=) c.2408_2412delinsTCATG (p.Ile803=) | |
2 | g.165386805C>A | CA429972500 | SCN2A | c.4611C>A (p.Ile1537=) c.*2930C>A (n.*2930C>A) c.*2598C>A (n.*2598C>A) c.*5134C>A (n.*5134C>A) c.*2553C>A (n.*2553C>A) c.4215C>A (p.Ile1405=) n.8042C>A c.4581C>A (p.Ile1527=) c.3858C>A (p.Ile1286=) c.2409C>A (p.Ile803=) | |
2 | g.165386805C>G | CA349036283 | SCN2A | c.4611C>G (p.Ile1537Met) c.*2930C>G (n.*2930C>G) c.*2598C>G (n.*2598C>G) c.*5134C>G (n.*5134C>G) c.*2553C>G (n.*2553C>G) c.4215C>G (p.Ile1405Met) n.8042C>G c.4581C>G (p.Ile1527Met) c.3858C>G (p.Ile1286Met) c.2409C>G (p.Ile803Met) | |
2 | g.165386805C>T | CA429972502 | SCN2A | c.4611C>T (p.Ile1537=) c.*2930C>T (n.*2930C>T) c.*2598C>T (n.*2598C>T) c.*5134C>T (n.*5134C>T) c.*2553C>T (n.*2553C>T) c.4215C>T (p.Ile1405=) n.8042C>T c.4581C>T (p.Ile1527=) c.3858C>T (p.Ile1286=) c.2409C>T (p.Ile803=) | |
2 | g.165386806A= | CA1304563757 | SCN2A | c.4612A= (p.Met1538=) c.*2931A= (n.*2931A=) c.*2599A= (n.*2599A=) c.*5135A= (n.*5135A=) c.*2554A= (n.*2554A=) c.4216A= (p.Met1406=) n.8043A= c.4582A= (p.Met1528=) c.3859A= (p.Met1287=) c.2410A= (p.Met804=) | |
2 | g.165386806A>C | CA349036284 | SCN2A | c.4612A>C (p.Met1538Leu) c.*2931A>C (n.*2931A>C) c.*2599A>C (n.*2599A>C) c.*5135A>C (n.*5135A>C) c.*2554A>C (n.*2554A>C) c.4216A>C (p.Met1406Leu) n.8043A>C c.4582A>C (p.Met1528Leu) c.3859A>C (p.Met1287Leu) c.2410A>C (p.Met804Leu) | |
2 | g.165386806A>G | CA317988 | SCN2A | c.4612A>G (p.Met1538Val) c.*2931A>G (n.*2931A>G) c.*2599A>G (n.*2599A>G) c.*5135A>G (n.*5135A>G) c.*2554A>G (n.*2554A>G) c.4216A>G (p.Met1406Val) n.8043A>G c.4582A>G (p.Met1528Val) c.3859A>G (p.Met1287Val) c.2410A>G (p.Met804Val) | ClinVar dbSNP |
2 | g.165386806A>T | CA349036285 | SCN2A | c.4612A>T (p.Met1538Leu) c.*2931A>T (n.*2931A>T) c.*2599A>T (n.*2599A>T) c.*5135A>T (n.*5135A>T) c.*2554A>T (n.*2554A>T) c.4216A>T (p.Met1406Leu) n.8043A>T c.4582A>T (p.Met1528Leu) c.3859A>T (p.Met1287Leu) c.2410A>T (p.Met804Leu) | |
2 | g.165386807T>A | CA349036286 | SCN2A | c.4613T>A (p.Met1538Lys) c.*2932T>A (n.*2932T>A) c.*2600T>A (n.*2600T>A) c.*5136T>A (n.*5136T>A) c.*2555T>A (n.*2555T>A) c.4217T>A (p.Met1406Lys) n.8044T>A c.4583T>A (p.Met1528Lys) c.3860T>A (p.Met1287Lys) c.2411T>A (p.Met804Lys) | |
2 | g.165386807T>C | CA349036288 | SCN2A | c.4613T>C (p.Met1538Thr) c.*2932T>C (n.*2932T>C) c.*2600T>C (n.*2600T>C) c.*5136T>C (n.*5136T>C) c.*2555T>C (n.*2555T>C) c.4217T>C (p.Met1406Thr) n.8044T>C c.4583T>C (p.Met1528Thr) c.3860T>C (p.Met1287Thr) c.2411T>C (p.Met804Thr) | |
2 | g.165386807T>G | CA349036287 | SCN2A | c.4613T>G (p.Met1538Arg) c.*2932T>G (n.*2932T>G) c.*2600T>G (n.*2600T>G) c.*5136T>G (n.*5136T>G) c.*2555T>G (n.*2555T>G) c.4217T>G (p.Met1406Arg) n.8044T>G c.4583T>G (p.Met1528Arg) c.3860T>G (p.Met1287Arg) c.2411T>G (p.Met804Arg) | |
2 | g.165386808G>A | CA349036289 | SCN2A | c.4614G>A (p.Met1538Ile) c.*2933G>A (n.*2933G>A) c.*2601G>A (n.*2601G>A) c.*5137G>A (n.*5137G>A) c.*2556G>A (n.*2556G>A) c.4218G>A (p.Met1406Ile) n.8045G>A c.4584G>A (p.Met1528Ile) c.3861G>A (p.Met1287Ile) c.2412G>A (p.Met804Ile) | ClinVar dbSNP |
2 | g.165386808G>C | CA317991 | SCN2A | c.4614G>C (p.Met1538Ile) c.*2933G>C (n.*2933G>C) c.*2601G>C (n.*2601G>C) c.*5137G>C (n.*5137G>C) c.*2556G>C (n.*2556G>C) c.4218G>C (p.Met1406Ile) n.8045G>C c.4584G>C (p.Met1528Ile) c.3861G>C (p.Met1287Ile) c.2412G>C (p.Met804Ile) | ClinVar dbSNP gnomAD v4 |
2 | g.165386808G= | CA1304563758 | SCN2A | c.4614G= (p.Met1538=) c.*2933G= (n.*2933G=) c.*2601G= (n.*2601G=) c.*5137G= (n.*5137G=) c.*2556G= (n.*2556G=) c.4218G= (p.Met1406=) n.8045G= c.4584G= (p.Met1528=) c.3861G= (p.Met1287=) c.2412G= (p.Met804=) | |
2 | g.165386808G>T | CA349036290 | SCN2A | c.4614G>T (p.Met1538Ile) c.*2933G>T (n.*2933G>T) c.*2601G>T (n.*2601G>T) c.*5137G>T (n.*5137G>T) c.*2556G>T (n.*2556G>T) c.4218G>T (p.Met1406Ile) n.8045G>T c.4584G>T (p.Met1528Ile) c.3861G>T (p.Met1287Ile) c.2412G>T (p.Met804Ile) | ClinVar dbSNP |
2 | g.165386809A= | CA1304563759 | SCN2A | c.4615A= (p.Ile1539=) c.*2934A= (n.*2934A=) c.*2602A= (n.*2602A=) c.*5138A= (n.*5138A=) c.*2557A= (n.*2557A=) c.4219A= (p.Ile1407=) n.8046A= c.4585A= (p.Ile1529=) c.3862A= (p.Ile1288=) c.2413A= (p.Ile805=) | |
2 | g.165386809A>C | CA349036291 | SCN2A | c.4615A>C (p.Ile1539Leu) c.*2934A>C (n.*2934A>C) c.*2602A>C (n.*2602A>C) c.*5138A>C (n.*5138A>C) c.*2557A>C (n.*2557A>C) c.4219A>C (p.Ile1407Leu) n.8046A>C c.4585A>C (p.Ile1529Leu) c.3862A>C (p.Ile1288Leu) c.2413A>C (p.Ile805Leu) | |
2 | g.165386809A>G | CA1940307 | SCN2A | c.4615A>G (p.Ile1539Val) c.*2934A>G (n.*2934A>G) c.*2602A>G (n.*2602A>G) c.*5138A>G (n.*5138A>G) c.*2557A>G (n.*2557A>G) c.4219A>G (p.Ile1407Val) n.8046A>G c.4585A>G (p.Ile1529Val) c.3862A>G (p.Ile1288Val) c.2413A>G (p.Ile805Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.165386809A>T | CA349036292 | SCN2A | c.4615A>T (p.Ile1539Phe) c.*2934A>T (n.*2934A>T) c.*2602A>T (n.*2602A>T) c.*5138A>T (n.*5138A>T) c.*2557A>T (n.*2557A>T) c.4219A>T (p.Ile1407Phe) n.8046A>T c.4585A>T (p.Ile1529Phe) c.3862A>T (p.Ile1288Phe) c.2413A>T (p.Ile805Phe) | dbSNP gnomAD v2 |
2 | g.165386810T>A | CA349036293 | SCN2A | c.4616T>A (p.Ile1539Asn) c.*2935T>A (n.*2935T>A) c.*2603T>A (n.*2603T>A) c.*5139T>A (n.*5139T>A) c.*2558T>A (n.*2558T>A) c.4220T>A (p.Ile1407Asn) n.8047T>A c.4586T>A (p.Ile1529Asn) c.3863T>A (p.Ile1288Asn) c.2414T>A (p.Ile805Asn) | |
2 | g.165386810T>C | CA349036294 | SCN2A | c.4616T>C (p.Ile1539Thr) c.*2935T>C (n.*2935T>C) c.*2603T>C (n.*2603T>C) c.*5139T>C (n.*5139T>C) c.*2558T>C (n.*2558T>C) c.4220T>C (p.Ile1407Thr) n.8047T>C c.4586T>C (p.Ile1529Thr) c.3863T>C (p.Ile1288Thr) c.2414T>C (p.Ile805Thr) | |
2 | g.165386810T>G | CA349036295 | SCN2A | c.4616T>G (p.Ile1539Ser) c.*2935T>G (n.*2935T>G) c.*2603T>G (n.*2603T>G) c.*5139T>G (n.*5139T>G) c.*2558T>G (n.*2558T>G) c.4220T>G (p.Ile1407Ser) n.8047T>G c.4586T>G (p.Ile1529Ser) c.3863T>G (p.Ile1288Ser) c.2414T>G (p.Ile805Ser) | |
2 | g.165386811C>A | CA1940308 | SCN2A | c.4617C>A (p.Ile1539=) c.*2936C>A (n.*2936C>A) c.*2604C>A (n.*2604C>A) c.*5140C>A (n.*5140C>A) c.*2559C>A (n.*2559C>A) c.4221C>A (p.Ile1407=) n.8048C>A c.4587C>A (p.Ile1529=) c.3864C>A (p.Ile1288=) c.2415C>A (p.Ile805=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.165386811C= | CA1304563760 | SCN2A | c.4617C= (p.Ile1539=) c.*2936C= (n.*2936C=) c.*2604C= (n.*2604C=) c.*5140C= (n.*5140C=) c.*2559C= (n.*2559C=) c.4221C= (p.Ile1407=) n.8048C= c.4587C= (p.Ile1529=) c.3864C= (p.Ile1288=) c.2415C= (p.Ile805=) | |
2 | g.165386811C>G | CA349036296 | SCN2A | c.4617C>G (p.Ile1539Met) c.*2936C>G (n.*2936C>G) c.*2604C>G (n.*2604C>G) c.*5140C>G (n.*5140C>G) c.*2559C>G (n.*2559C>G) c.4221C>G (p.Ile1407Met) n.8048C>G c.4587C>G (p.Ile1529Met) c.3864C>G (p.Ile1288Met) c.2415C>G (p.Ile805Met) | |
2 | g.165386811C>T | CA429972508 | SCN2A | c.4617C>T (p.Ile1539=) c.*2936C>T (n.*2936C>T) c.*2604C>T (n.*2604C>T) c.*5140C>T (n.*5140C>T) c.*2559C>T (n.*2559C>T) c.4221C>T (p.Ile1407=) n.8048C>T c.4587C>T (p.Ile1529=) c.3864C>T (p.Ile1288=) c.2415C>T (p.Ile805=) | dbSNP gnomAD v2 |
2 | g.165386812C>A | CA349036298 | SCN2A | c.4618C>A (p.Leu1540Ile) c.*2937C>A (n.*2937C>A) c.*2605C>A (n.*2605C>A) c.*5141C>A (n.*5141C>A) c.*2560C>A (n.*2560C>A) c.4222C>A (p.Leu1408Ile) n.8049C>A c.4588C>A (p.Leu1530Ile) c.3865C>A (p.Leu1289Ile) c.2416C>A (p.Leu806Ile) | |
2 | g.165386812C= | CA1304563761 | SCN2A | c.4618C= (p.Leu1540=) c.*2937C= (n.*2937C=) c.*2605C= (n.*2605C=) c.*5141C= (n.*5141C=) c.*2560C= (n.*2560C=) c.4222C= (p.Leu1408=) n.8049C= c.4588C= (p.Leu1530=) c.3865C= (p.Leu1289=) c.2416C= (p.Leu806=) | |
2 | g.165386812C>G | CA349036297 | SCN2A | c.4618C>G (p.Leu1540Val) c.*2937C>G (n.*2937C>G) c.*2605C>G (n.*2605C>G) c.*5141C>G (n.*5141C>G) c.*2560C>G (n.*2560C>G) c.4222C>G (p.Leu1408Val) n.8049C>G c.4588C>G (p.Leu1530Val) c.3865C>G (p.Leu1289Val) c.2416C>G (p.Leu806Val) | |
2 | g.165386812C>T | CA1940309 | SCN2A | c.4618C>T (p.Leu1540Phe) c.*2937C>T (n.*2937C>T) c.*2605C>T (n.*2605C>T) c.*5141C>T (n.*5141C>T) c.*2560C>T (n.*2560C>T) c.4222C>T (p.Leu1408Phe) n.8049C>T c.4588C>T (p.Leu1530Phe) c.3865C>T (p.Leu1289Phe) c.2416C>T (p.Leu806Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165386813T>A | CA349036299 | SCN2A | c.4619T>A (p.Leu1540His) c.*2938T>A (n.*2938T>A) c.*2606T>A (n.*2606T>A) c.*5142T>A (n.*5142T>A) c.*2561T>A (n.*2561T>A) c.4223T>A (p.Leu1408His) n.8050T>A c.4589T>A (p.Leu1530His) c.3866T>A (p.Leu1289His) c.2417T>A (p.Leu806His) | |
2 | g.165386813T>C | CA349036300 | SCN2A | c.4619T>C (p.Leu1540Pro) c.*2938T>C (n.*2938T>C) c.*2606T>C (n.*2606T>C) c.*5142T>C (n.*5142T>C) c.*2561T>C (n.*2561T>C) c.4223T>C (p.Leu1408Pro) n.8050T>C c.4589T>C (p.Leu1530Pro) c.3866T>C (p.Leu1289Pro) c.2417T>C (p.Leu806Pro) | |
2 | g.165386813T>G | CA349036301 | SCN2A | c.4619T>G (p.Leu1540Arg) c.*2938T>G (n.*2938T>G) c.*2606T>G (n.*2606T>G) c.*5142T>G (n.*5142T>G) c.*2561T>G (n.*2561T>G) c.4223T>G (p.Leu1408Arg) n.8050T>G c.4589T>G (p.Leu1530Arg) c.3866T>G (p.Leu1289Arg) c.2417T>G (p.Leu806Arg) | |
2 | g.165386814C>A | CA429972510 | SCN2A | c.4620C>A (p.Leu1540=) c.*2939C>A (n.*2939C>A) c.*2607C>A (n.*2607C>A) c.*5143C>A (n.*5143C>A) c.*2562C>A (n.*2562C>A) c.4224C>A (p.Leu1408=) n.8051C>A c.4590C>A (p.Leu1530=) c.3867C>A (p.Leu1289=) c.2418C>A (p.Leu806=) | |
2 | g.165386814C= | CA1304563762 | SCN2A | c.4620C= (p.Leu1540=) c.*2939C= (n.*2939C=) c.*2607C= (n.*2607C=) c.*5143C= (n.*5143C=) c.*2562C= (n.*2562C=) c.4224C= (p.Leu1408=) n.8051C= c.4590C= (p.Leu1530=) c.3867C= (p.Leu1289=) c.2418C= (p.Leu806=) | |
2 | g.165386814C>G | CA429972512 | SCN2A | c.4620C>G (p.Leu1540=) c.*2939C>G (n.*2939C>G) c.*2607C>G (n.*2607C>G) c.*5143C>G (n.*5143C>G) c.*2562C>G (n.*2562C>G) c.4224C>G (p.Leu1408=) n.8051C>G c.4590C>G (p.Leu1530=) c.3867C>G (p.Leu1289=) c.2418C>G (p.Leu806=) | |
2 | g.165386814C>T | CA1940310 | SCN2A | c.4620C>T (p.Leu1540=) c.*2939C>T (n.*2939C>T) c.*2607C>T (n.*2607C>T) c.*5143C>T (n.*5143C>T) c.*2562C>T (n.*2562C>T) c.4224C>T (p.Leu1408=) n.8051C>T c.4590C>T (p.Leu1530=) c.3867C>T (p.Leu1289=) c.2418C>T (p.Leu806=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.165386815A>C | CA349036302 | SCN2A | c.4621A>C (p.Ile1541Leu) c.*2940A>C (n.*2940A>C) c.*2608A>C (n.*2608A>C) c.*5144A>C (n.*5144A>C) c.*2563A>C (n.*2563A>C) c.4225A>C (p.Ile1409Leu) n.8052A>C c.4591A>C (p.Ile1531Leu) c.3868A>C (p.Ile1290Leu) c.2419A>C (p.Ile807Leu) | |
2 | g.165386815A>G | CA349036303 | SCN2A | c.4621A>G (p.Ile1541Val) c.*2940A>G (n.*2940A>G) c.*2608A>G (n.*2608A>G) c.*5144A>G (n.*5144A>G) c.*2563A>G (n.*2563A>G) c.4225A>G (p.Ile1409Val) n.8052A>G c.4591A>G (p.Ile1531Val) c.3868A>G (p.Ile1290Val) c.2419A>G (p.Ile807Val) | |
2 | g.165386815A>T | CA349036304 | SCN2A | c.4621A>T (p.Ile1541Phe) c.*2940A>T (n.*2940A>T) c.*2608A>T (n.*2608A>T) c.*5144A>T (n.*5144A>T) c.*2563A>T (n.*2563A>T) c.4225A>T (p.Ile1409Phe) n.8052A>T c.4591A>T (p.Ile1531Phe) c.3868A>T (p.Ile1290Phe) c.2419A>T (p.Ile807Phe) | |
2 | g.165386816T>A | CA349036305 | SCN2A | c.4622T>A (p.Ile1541Asn) c.*2941T>A (n.*2941T>A) c.*2609T>A (n.*2609T>A) c.*5145T>A (n.*5145T>A) c.*2564T>A (n.*2564T>A) c.4226T>A (p.Ile1409Asn) n.8053T>A c.4592T>A (p.Ile1531Asn) c.3869T>A (p.Ile1290Asn) c.2420T>A (p.Ile807Asn) | ClinVar |
2 | g.165386816T>C | CA349036306 | SCN2A | c.4622T>C (p.Ile1541Thr) c.*2941T>C (n.*2941T>C) c.*2609T>C (n.*2609T>C) c.*5145T>C (n.*5145T>C) c.*2564T>C (n.*2564T>C) c.4226T>C (p.Ile1409Thr) n.8053T>C c.4592T>C (p.Ile1531Thr) c.3869T>C (p.Ile1290Thr) c.2420T>C (p.Ile807Thr) | |
2 | g.165386816T>G | CA349036307 | SCN2A | c.4622T>G (p.Ile1541Ser) c.*2941T>G (n.*2941T>G) c.*2609T>G (n.*2609T>G) c.*5145T>G (n.*5145T>G) c.*2564T>G (n.*2564T>G) c.4226T>G (p.Ile1409Ser) n.8053T>G c.4592T>G (p.Ile1531Ser) c.3869T>G (p.Ile1290Ser) c.2420T>G (p.Ile807Ser) | |
2 | g.165386817C>A | CA429972518 | SCN2A | c.4623C>A (p.Ile1541=) c.*2942C>A (n.*2942C>A) c.*2610C>A (n.*2610C>A) c.*5146C>A (n.*5146C>A) c.*2565C>A (n.*2565C>A) c.4227C>A (p.Ile1409=) n.8054C>A c.4593C>A (p.Ile1531=) c.3870C>A (p.Ile1290=) c.2421C>A (p.Ile807=) | |
2 | g.165386817C>G | CA349036308 | SCN2A | c.4623C>G (p.Ile1541Met) c.*2942C>G (n.*2942C>G) c.*2610C>G (n.*2610C>G) c.*5146C>G (n.*5146C>G) c.*2565C>G (n.*2565C>G) c.4227C>G (p.Ile1409Met) n.8054C>G c.4593C>G (p.Ile1531Met) c.3870C>G (p.Ile1290Met) c.2421C>G (p.Ile807Met) | ClinVar |
2 | g.165386817C>T | CA429972515 | SCN2A | c.4623C>T (p.Ile1541=) c.*2942C>T (n.*2942C>T) c.*2610C>T (n.*2610C>T) c.*5146C>T (n.*5146C>T) c.*2565C>T (n.*2565C>T) c.4227C>T (p.Ile1409=) n.8054C>T c.4593C>T (p.Ile1531=) c.3870C>T (p.Ile1290=) c.2421C>T (p.Ile807=) | |
2 | g.165386818T>A | CA349036311 | SCN2A | c.4624T>A (p.Cys1542Ser) c.*2943T>A (n.*2943T>A) c.*2611T>A (n.*2611T>A) c.*5147T>A (n.*5147T>A) c.*2566T>A (n.*2566T>A) c.4228T>A (p.Cys1410Ser) n.8055T>A c.4594T>A (p.Cys1532Ser) c.3871T>A (p.Cys1291Ser) c.2422T>A (p.Cys808Ser) | |
2 | g.165386818T>C | CA349036310 | SCN2A | c.4624T>C (p.Cys1542Arg) c.*2943T>C (n.*2943T>C) c.*2611T>C (n.*2611T>C) c.*5147T>C (n.*5147T>C) c.*2566T>C (n.*2566T>C) c.4228T>C (p.Cys1410Arg) n.8055T>C c.4594T>C (p.Cys1532Arg) c.3871T>C (p.Cys1291Arg) c.2422T>C (p.Cys808Arg) | |
2 | g.165386818T>G | CA349036309 | SCN2A | c.4624T>G (p.Cys1542Gly) c.*2943T>G (n.*2943T>G) c.*2611T>G (n.*2611T>G) c.*5147T>G (n.*5147T>G) c.*2566T>G (n.*2566T>G) c.4228T>G (p.Cys1410Gly) n.8055T>G c.4594T>G (p.Cys1532Gly) c.3871T>G (p.Cys1291Gly) c.2422T>G (p.Cys808Gly) | |
2 | g.165386819G>A | CA349036312 | SCN2A | c.4625G>A (p.Cys1542Tyr) c.*2944G>A (n.*2944G>A) c.*2612G>A (n.*2612G>A) c.*5148G>A (n.*5148G>A) c.*2567G>A (n.*2567G>A) c.4229G>A (p.Cys1410Tyr) n.8056G>A c.4595G>A (p.Cys1532Tyr) c.3872G>A (p.Cys1291Tyr) c.2423G>A (p.Cys808Tyr) | |
2 | g.165386819G>C | CA349036313 | SCN2A | c.4625G>C (p.Cys1542Ser) c.*2944G>C (n.*2944G>C) c.*2612G>C (n.*2612G>C) c.*5148G>C (n.*5148G>C) c.*2567G>C (n.*2567G>C) c.4229G>C (p.Cys1410Ser) n.8056G>C c.4595G>C (p.Cys1532Ser) c.3872G>C (p.Cys1291Ser) c.2423G>C (p.Cys808Ser) | ClinVar |
2 | g.165386819G= | CA1304563763 | SCN2A | c.4625G= (p.Cys1542=) c.*2944G= (n.*2944G=) c.*2612G= (n.*2612G=) c.*5148G= (n.*5148G=) c.*2567G= (n.*2567G=) c.4229G= (p.Cys1410=) n.8056G= c.4595G= (p.Cys1532=) c.3872G= (p.Cys1291=) c.2423G= (p.Cys808=) | |
2 | g.165386819G>T | CA349036314 | SCN2A | c.4625G>T (p.Cys1542Phe) c.*2944G>T (n.*2944G>T) c.*2612G>T (n.*2612G>T) c.*5148G>T (n.*5148G>T) c.*2567G>T (n.*2567G>T) c.4229G>T (p.Cys1410Phe) n.8056G>T c.4595G>T (p.Cys1532Phe) c.3872G>T (p.Cys1291Phe) c.2423G>T (p.Cys808Phe) | dbSNP |
2 | g.165386820C>A | CA349036315 | SCN2A | c.4626C>A (p.Cys1542Ter) c.*2945C>A (n.*2945C>A) c.*2613C>A (n.*2613C>A) c.*5149C>A (n.*5149C>A) c.*2568C>A (n.*2568C>A) c.4230C>A (p.Cys1410Ter) n.8057C>A c.4596C>A (p.Cys1532Ter) c.3873C>A (p.Cys1291Ter) c.2424C>A (p.Cys808Ter) | dbSNP |
2 | g.165386820C= | CA1304563764 | SCN2A | c.4626C= (p.Cys1542=) c.*2945C= (n.*2945C=) c.*2613C= (n.*2613C=) c.*5149C= (n.*5149C=) c.*2568C= (n.*2568C=) c.4230C= (p.Cys1410=) n.8057C= c.4596C= (p.Cys1532=) c.3873C= (p.Cys1291=) c.2424C= (p.Cys808=) | |
2 | g.165386820C>G | CA349036316 | SCN2A | c.4626C>G (p.Cys1542Trp) c.*2945C>G (n.*2945C>G) c.*2613C>G (n.*2613C>G) c.*5149C>G (n.*5149C>G) c.*2568C>G (n.*2568C>G) c.4230C>G (p.Cys1410Trp) n.8057C>G c.4596C>G (p.Cys1532Trp) c.3873C>G (p.Cys1291Trp) c.2424C>G (p.Cys808Trp) | |
2 | g.165386820C>T | CA429972525 | SCN2A | c.4626C>T (p.Cys1542=) c.*2945C>T (n.*2945C>T) c.*2613C>T (n.*2613C>T) c.*5149C>T (n.*5149C>T) c.*2568C>T (n.*2568C>T) c.4230C>T (p.Cys1410=) n.8057C>T c.4596C>T (p.Cys1532=) c.3873C>T (p.Cys1291=) c.2424C>T (p.Cys808=) | ClinVar dbSNP gnomAD v4 |
2 | g.165386821C>A | CA349036319 | SCN2A | c.4627C>A (p.Leu1543Ile) c.*2946C>A (n.*2946C>A) c.*2614C>A (n.*2614C>A) c.*5150C>A (n.*5150C>A) c.*2569C>A (n.*2569C>A) c.4231C>A (p.Leu1411Ile) n.8058C>A c.4597C>A (p.Leu1533Ile) c.3874C>A (p.Leu1292Ile) c.2425C>A (p.Leu809Ile) | |
2 | g.165386821C>G | CA349036318 | SCN2A | c.4627C>G (p.Leu1543Val) c.*2946C>G (n.*2946C>G) c.*2614C>G (n.*2614C>G) c.*5150C>G (n.*5150C>G) c.*2569C>G (n.*2569C>G) c.4231C>G (p.Leu1411Val) n.8058C>G c.4597C>G (p.Leu1533Val) c.3874C>G (p.Leu1292Val) c.2425C>G (p.Leu809Val) | |
2 | g.165386821C>T | CA349036317 | SCN2A | c.4627C>T (p.Leu1543Phe) c.*2946C>T (n.*2946C>T) c.*2614C>T (n.*2614C>T) c.*5150C>T (n.*5150C>T) c.*2569C>T (n.*2569C>T) c.4231C>T (p.Leu1411Phe) n.8058C>T c.4597C>T (p.Leu1533Phe) c.3874C>T (p.Leu1292Phe) c.2425C>T (p.Leu809Phe) | |
2 | g.165386822T>A | CA349036320 | SCN2A | c.4628T>A (p.Leu1543His) c.*2947T>A (n.*2947T>A) c.*2615T>A (n.*2615T>A) c.*5151T>A (n.*5151T>A) c.*2570T>A (n.*2570T>A) c.4232T>A (p.Leu1411His) n.8059T>A c.4598T>A (p.Leu1533His) c.3875T>A (p.Leu1292His) c.2426T>A (p.Leu809His) | |
2 | g.165386822T>C | CA349036321 | SCN2A | c.4628T>C (p.Leu1543Pro) c.*2947T>C (n.*2947T>C) c.*2615T>C (n.*2615T>C) c.*5151T>C (n.*5151T>C) c.*2570T>C (n.*2570T>C) c.4232T>C (p.Leu1411Pro) n.8059T>C c.4598T>C (p.Leu1533Pro) c.3875T>C (p.Leu1292Pro) c.2426T>C (p.Leu809Pro) | |
2 | g.165386822T>G | CA349036322 | SCN2A | c.4628T>G (p.Leu1543Arg) c.*2947T>G (n.*2947T>G) c.*2615T>G (n.*2615T>G) c.*5151T>G (n.*5151T>G) c.*2570T>G (n.*2570T>G) c.4232T>G (p.Leu1411Arg) n.8059T>G c.4598T>G (p.Leu1533Arg) c.3875T>G (p.Leu1292Arg) c.2426T>G (p.Leu809Arg) | |
2 | g.165386823T>A | CA429972530 | SCN2A | c.4629T>A (p.Leu1543=) c.*2948T>A (n.*2948T>A) c.*2616T>A (n.*2616T>A) c.*5152T>A (n.*5152T>A) c.*2571T>A (n.*2571T>A) c.4233T>A (p.Leu1411=) n.8060T>A c.4599T>A (p.Leu1533=) c.3876T>A (p.Leu1292=) c.2427T>A (p.Leu809=) | |
2 | g.165386823T>C | CA429972533 | SCN2A | c.4629T>C (p.Leu1543=) c.*2948T>C (n.*2948T>C) c.*2616T>C (n.*2616T>C) c.*5152T>C (n.*5152T>C) c.*2571T>C (n.*2571T>C) c.4233T>C (p.Leu1411=) n.8060T>C c.4599T>C (p.Leu1533=) c.3876T>C (p.Leu1292=) c.2427T>C (p.Leu809=) | |
2 | g.165386823T>G | CA429972532 | SCN2A | c.4629T>G (p.Leu1543=) c.*2948T>G (n.*2948T>G) c.*2616T>G (n.*2616T>G) c.*5152T>G (n.*5152T>G) c.*2571T>G (n.*2571T>G) c.4233T>G (p.Leu1411=) n.8060T>G c.4599T>G (p.Leu1533=) c.3876T>G (p.Leu1292=) c.2427T>G (p.Leu809=) | gnomAD v4 |
2 | g.165386824A= | CA1304563765 | SCN2A | c.4630A= (p.Asn1544=) c.*2949A= (n.*2949A=) c.*2617A= (n.*2617A=) c.*5153A= (n.*5153A=) c.*2572A= (n.*2572A=) c.4234A= (p.Asn1412=) n.8061A= c.4600A= (p.Asn1534=) c.3877A= (p.Asn1293=) c.2428A= (p.Asn810=) | |
2 | g.165386824A>C | CA349036323 | SCN2A | c.4630A>C (p.Asn1544His) c.*2949A>C (n.*2949A>C) c.*2617A>C (n.*2617A>C) c.*5153A>C (n.*5153A>C) c.*2572A>C (n.*2572A>C) c.4234A>C (p.Asn1412His) n.8061A>C c.4600A>C (p.Asn1534His) c.3877A>C (p.Asn1293His) c.2428A>C (p.Asn810His) | |
2 | g.165386824A>G | CA317994 | SCN2A | c.4630A>G (p.Asn1544Asp) c.*2949A>G (n.*2949A>G) c.*2617A>G (n.*2617A>G) c.*5153A>G (n.*5153A>G) c.*2572A>G (n.*2572A>G) c.4234A>G (p.Asn1412Asp) n.8061A>G c.4600A>G (p.Asn1534Asp) c.3877A>G (p.Asn1293Asp) c.2428A>G (p.Asn810Asp) | ClinVar dbSNP |
2 | g.165386824A>T | CA349036324 | SCN2A | c.4630A>T (p.Asn1544Tyr) c.*2949A>T (n.*2949A>T) c.*2617A>T (n.*2617A>T) c.*5153A>T (n.*5153A>T) c.*2572A>T (n.*2572A>T) c.4234A>T (p.Asn1412Tyr) n.8061A>T c.4600A>T (p.Asn1534Tyr) c.3877A>T (p.Asn1293Tyr) c.2428A>T (p.Asn810Tyr) | COSMIC COSMIC |
2 | g.165386825A>C | CA349036325 | SCN2A | c.4631A>C (p.Asn1544Thr) c.*2950A>C (n.*2950A>C) c.*2618A>C (n.*2618A>C) c.*5154A>C (n.*5154A>C) c.*2573A>C (n.*2573A>C) c.4235A>C (p.Asn1412Thr) n.8062A>C c.4601A>C (p.Asn1534Thr) c.3878A>C (p.Asn1293Thr) c.2429A>C (p.Asn810Thr) | |
2 | g.165386825A>G | CA349036327 | SCN2A | c.4631A>G (p.Asn1544Ser) c.*2950A>G (n.*2950A>G) c.*2618A>G (n.*2618A>G) c.*5154A>G (n.*5154A>G) c.*2573A>G (n.*2573A>G) c.4235A>G (p.Asn1412Ser) n.8062A>G c.4601A>G (p.Asn1534Ser) c.3878A>G (p.Asn1293Ser) c.2429A>G (p.Asn810Ser) | |
2 | g.165386825A>T | CA349036326 | SCN2A | c.4631A>T (p.Asn1544Ile) c.*2950A>T (n.*2950A>T) c.*2618A>T (n.*2618A>T) c.*5154A>T (n.*5154A>T) c.*2573A>T (n.*2573A>T) c.4235A>T (p.Asn1412Ile) n.8062A>T c.4601A>T (p.Asn1534Ile) c.3878A>T (p.Asn1293Ile) c.2429A>T (p.Asn810Ile) | |
2 | g.165386826C>A | CA349036328 | SCN2A | c.4632C>A (p.Asn1544Lys) c.*2951C>A (n.*2951C>A) c.*2619C>A (n.*2619C>A) c.*5155C>A (n.*5155C>A) c.*2574C>A (n.*2574C>A) c.4236C>A (p.Asn1412Lys) n.8063C>A c.4602C>A (p.Asn1534Lys) c.3879C>A (p.Asn1293Lys) c.2430C>A (p.Asn810Lys) | |
2 | g.165386826C>G | CA349036329 | SCN2A | c.4632C>G (p.Asn1544Lys) c.*2951C>G (n.*2951C>G) c.*2619C>G (n.*2619C>G) c.*5155C>G (n.*5155C>G) c.*2574C>G (n.*2574C>G) c.4236C>G (p.Asn1412Lys) n.8063C>G c.4602C>G (p.Asn1534Lys) c.3879C>G (p.Asn1293Lys) c.2430C>G (p.Asn810Lys) | |
2 | g.165386826C>T | CA429972539 | SCN2A | c.4632C>T (p.Asn1544=) c.*2951C>T (n.*2951C>T) c.*2619C>T (n.*2619C>T) c.*5155C>T (n.*5155C>T) c.*2574C>T (n.*2574C>T) c.4236C>T (p.Asn1412=) n.8063C>T c.4602C>T (p.Asn1534=) c.3879C>T (p.Asn1293=) c.2430C>T (p.Asn810=) | |
2 | g.165386827A= | CA1304563766 | SCN2A | c.4633A= (p.Met1545=) c.*2952A= (n.*2952A=) c.*2620A= (n.*2620A=) c.*5156A= (n.*5156A=) c.*2575A= (n.*2575A=) c.4237A= (p.Met1413=) n.8064A= c.4603A= (p.Met1535=) c.3880A= (p.Met1294=) c.2431A= (p.Met811=) | |
2 | g.165386827A>C | CA349036330 | SCN2A | c.4633A>C (p.Met1545Leu) c.*2952A>C (n.*2952A>C) c.*2620A>C (n.*2620A>C) c.*5156A>C (n.*5156A>C) c.*2575A>C (n.*2575A>C) c.4237A>C (p.Met1413Leu) n.8064A>C c.4603A>C (p.Met1535Leu) c.3880A>C (p.Met1294Leu) c.2431A>C (p.Met811Leu) | |
2 | g.165386827A>G | CA317997 | SCN2A | c.4633A>G (p.Met1545Val) c.*2952A>G (n.*2952A>G) c.*2620A>G (n.*2620A>G) c.*5156A>G (n.*5156A>G) c.*2575A>G (n.*2575A>G) c.4237A>G (p.Met1413Val) n.8064A>G c.4603A>G (p.Met1535Val) c.3880A>G (p.Met1294Val) c.2431A>G (p.Met811Val) | ClinVar dbSNP |
2 | g.165386827A>T | CA349036331 | SCN2A | c.4633A>T (p.Met1545Leu) c.*2952A>T (n.*2952A>T) c.*2620A>T (n.*2620A>T) c.*5156A>T (n.*5156A>T) c.*2575A>T (n.*2575A>T) c.4237A>T (p.Met1413Leu) n.8064A>T c.4603A>T (p.Met1535Leu) c.3880A>T (p.Met1294Leu) c.2431A>T (p.Met811Leu) | |
2 | g.165386828T>A | CA349036332 | SCN2A | c.4634T>A (p.Met1545Lys) c.*2953T>A (n.*2953T>A) c.*2621T>A (n.*2621T>A) c.*5157T>A (n.*5157T>A) c.*2576T>A (n.*2576T>A) c.4238T>A (p.Met1413Lys) n.8065T>A c.4604T>A (p.Met1535Lys) c.3881T>A (p.Met1294Lys) c.2432T>A (p.Met811Lys) | |
2 | g.165386828T>C | CA349036333 | SCN2A | c.4634T>C (p.Met1545Thr) c.*2953T>C (n.*2953T>C) c.*2621T>C (n.*2621T>C) c.*5157T>C (n.*5157T>C) c.*2576T>C (n.*2576T>C) c.4238T>C (p.Met1413Thr) n.8065T>C c.4604T>C (p.Met1535Thr) c.3881T>C (p.Met1294Thr) c.2432T>C (p.Met811Thr) | |
2 | g.165386828T>G | CA349036334 | SCN2A | c.4634T>G (p.Met1545Arg) c.*2953T>G (n.*2953T>G) c.*2621T>G (n.*2621T>G) c.*5157T>G (n.*5157T>G) c.*2576T>G (n.*2576T>G) c.4238T>G (p.Met1413Arg) n.8065T>G c.4604T>G (p.Met1535Arg) c.3881T>G (p.Met1294Arg) c.2432T>G (p.Met811Arg) | |
2 | g.165386829G>A | CA349036335 | SCN2A | c.4635G>A (p.Met1545Ile) c.*2954G>A (n.*2954G>A) c.*2622G>A (n.*2622G>A) c.*5158G>A (n.*5158G>A) c.*2577G>A (n.*2577G>A) c.4239G>A (p.Met1413Ile) n.8066G>A c.4605G>A (p.Met1535Ile) c.3882G>A (p.Met1294Ile) c.2433G>A (p.Met811Ile) | |
2 | g.165386829G>C | CA349036336 | SCN2A | c.4635G>C (p.Met1545Ile) c.*2954G>C (n.*2954G>C) c.*2622G>C (n.*2622G>C) c.*5158G>C (n.*5158G>C) c.*2577G>C (n.*2577G>C) c.4239G>C (p.Met1413Ile) n.8066G>C c.4605G>C (p.Met1535Ile) c.3882G>C (p.Met1294Ile) c.2433G>C (p.Met811Ile) | ClinVar dbSNP |
2 | g.165386829G= | CA1304563767 | SCN2A | c.4635G= (p.Met1545=) c.*2954G= (n.*2954G=) c.*2622G= (n.*2622G=) c.*5158G= (n.*5158G=) c.*2577G= (n.*2577G=) c.4239G= (p.Met1413=) n.8066G= c.4605G= (p.Met1535=) c.3882G= (p.Met1294=) c.2433G= (p.Met811=) | |
2 | g.165386829G>T | CA349036337 | SCN2A | c.4635G>T (p.Met1545Ile) c.*2954G>T (n.*2954G>T) c.*2622G>T (n.*2622G>T) c.*5158G>T (n.*5158G>T) c.*2577G>T (n.*2577G>T) c.4239G>T (p.Met1413Ile) n.8066G>T c.4605G>T (p.Met1535Ile) c.3882G>T (p.Met1294Ile) c.2433G>T (p.Met811Ile) | ClinVar dbSNP COSMIC COSMIC |
2 | g.165386830G>A | CA349036339 | SCN2A | c.4636G>A (p.Val1546Ile) c.*2955G>A (n.*2955G>A) c.*2623G>A (n.*2623G>A) c.*5159G>A (n.*5159G>A) c.*2578G>A (n.*2578G>A) c.4240G>A (p.Val1414Ile) n.8067G>A c.4606G>A (p.Val1536Ile) c.3883G>A (p.Val1295Ile) c.2434G>A (p.Val812Ile) | gnomAD v4 |
2 | g.165386830G>C | CA349036340 | SCN2A | c.4636G>C (p.Val1546Leu) c.*2955G>C (n.*2955G>C) c.*2623G>C (n.*2623G>C) c.*5159G>C (n.*5159G>C) c.*2578G>C (n.*2578G>C) c.4240G>C (p.Val1414Leu) n.8067G>C c.4606G>C (p.Val1536Leu) c.3883G>C (p.Val1295Leu) c.2434G>C (p.Val812Leu) | |
2 | g.165386830G>T | CA349036338 | SCN2A | c.4636G>T (p.Val1546Phe) c.*2955G>T (n.*2955G>T) c.*2623G>T (n.*2623G>T) c.*5159G>T (n.*5159G>T) c.*2578G>T (n.*2578G>T) c.4240G>T (p.Val1414Phe) n.8067G>T c.4606G>T (p.Val1536Phe) c.3883G>T (p.Val1295Phe) c.2434G>T (p.Val812Phe) | gnomAD v4 |
2 | g.165386831T>A | CA349036343 | SCN2A | c.4637T>A (p.Val1546Asp) c.*2956T>A (n.*2956T>A) c.*2624T>A (n.*2624T>A) c.*5160T>A (n.*5160T>A) c.*2579T>A (n.*2579T>A) c.4241T>A (p.Val1414Asp) n.8068T>A c.4607T>A (p.Val1536Asp) c.3884T>A (p.Val1295Asp) c.2435T>A (p.Val812Asp) | |
2 | g.165386831T>C | CA349036341 | SCN2A | c.4637T>C (p.Val1546Ala) c.*2956T>C (n.*2956T>C) c.*2624T>C (n.*2624T>C) c.*5160T>C (n.*5160T>C) c.*2579T>C (n.*2579T>C) c.4241T>C (p.Val1414Ala) n.8068T>C c.4607T>C (p.Val1536Ala) c.3884T>C (p.Val1295Ala) c.2435T>C (p.Val812Ala) | |
2 | g.165386831T>G | CA349036342 | SCN2A | c.4637T>G (p.Val1546Gly) c.*2956T>G (n.*2956T>G) c.*2624T>G (n.*2624T>G) c.*5160T>G (n.*5160T>G) c.*2579T>G (n.*2579T>G) c.4241T>G (p.Val1414Gly) n.8068T>G c.4607T>G (p.Val1536Gly) c.3884T>G (p.Val1295Gly) c.2435T>G (p.Val812Gly) | gnomAD v4 |
2 | g.165386832C>A | CA429972553 | SCN2A | c.4638C>A (p.Val1546=) c.*2957C>A (n.*2957C>A) c.*2625C>A (n.*2625C>A) c.*5161C>A (n.*5161C>A) c.*2580C>A (n.*2580C>A) c.4242C>A (p.Val1414=) n.8069C>A c.4608C>A (p.Val1536=) c.3885C>A (p.Val1295=) c.2436C>A (p.Val812=) | |
2 | g.165386832C>G | CA429972556 | SCN2A | c.4638C>G (p.Val1546=) c.*2957C>G (n.*2957C>G) c.*2625C>G (n.*2625C>G) c.*5161C>G (n.*5161C>G) c.*2580C>G (n.*2580C>G) c.4242C>G (p.Val1414=) n.8069C>G c.4608C>G (p.Val1536=) c.3885C>G (p.Val1295=) c.2436C>G (p.Val812=) | |
2 | g.165386832C>T | CA429972557 | SCN2A | c.4638C>T (p.Val1546=) c.*2957C>T (n.*2957C>T) c.*2625C>T (n.*2625C>T) c.*5161C>T (n.*5161C>T) c.*2580C>T (n.*2580C>T) c.4242C>T (p.Val1414=) n.8069C>T c.4608C>T (p.Val1536=) c.3885C>T (p.Val1295=) c.2436C>T (p.Val812=) | gnomAD v4 |
2 | g.165386833A>C | CA349036344 | SCN2A | c.4639A>C (p.Thr1547Pro) c.*2958A>C (n.*2958A>C) c.*2626A>C (n.*2626A>C) c.*5162A>C (n.*5162A>C) c.*2581A>C (n.*2581A>C) c.4243A>C (p.Thr1415Pro) n.8070A>C c.4609A>C (p.Thr1537Pro) c.3886A>C (p.Thr1296Pro) c.2437A>C (p.Thr813Pro) | |
2 | g.165386833A>G | CA349036345 | SCN2A | c.4639A>G (p.Thr1547Ala) c.*2958A>G (n.*2958A>G) c.*2626A>G (n.*2626A>G) c.*5162A>G (n.*5162A>G) c.*2581A>G (n.*2581A>G) c.4243A>G (p.Thr1415Ala) n.8070A>G c.4609A>G (p.Thr1537Ala) c.3886A>G (p.Thr1296Ala) c.2437A>G (p.Thr813Ala) | |
2 | g.165386833A>T | CA349036346 | SCN2A | c.4639A>T (p.Thr1547Ser) c.*2958A>T (n.*2958A>T) c.*2626A>T (n.*2626A>T) c.*5162A>T (n.*5162A>T) c.*2581A>T (n.*2581A>T) c.4243A>T (p.Thr1415Ser) n.8070A>T c.4609A>T (p.Thr1537Ser) c.3886A>T (p.Thr1296Ser) c.2437A>T (p.Thr813Ser) |