Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.165386851G>A | CA59750986 | SCN2A | c.4657G>A (p.Asp1553Asn) c.*2976G>A (n.*2976G>A) c.*2644G>A (n.*2644G>A) c.*5180G>A (n.*5180G>A) c.*2599G>A (n.*2599G>A) c.4261G>A (p.Asp1421Asn) n.8088G>A c.4627G>A (p.Asp1543Asn) c.3904G>A (p.Asp1302Asn) c.2455G>A (p.Asp819Asn) | ClinVar dbSNP gnomAD v4 |
2 | g.165386851G>C | CA349036391 | SCN2A | c.4657G>C (p.Asp1553His) c.*2976G>C (n.*2976G>C) c.*2644G>C (n.*2644G>C) c.*5180G>C (n.*5180G>C) c.*2599G>C (n.*2599G>C) c.4261G>C (p.Asp1421His) n.8088G>C c.4627G>C (p.Asp1543His) c.3904G>C (p.Asp1302His) c.2455G>C (p.Asp819His) | |
2 | g.165386851G= | CA1304563774 | SCN2A | c.4657G= (p.Asp1553=) c.*2976G= (n.*2976G=) c.*2644G= (n.*2644G=) c.*5180G= (n.*5180G=) c.*2599G= (n.*2599G=) c.4261G= (p.Asp1421=) n.8088G= c.4627G= (p.Asp1543=) c.3904G= (p.Asp1302=) c.2455G= (p.Asp819=) | |
2 | g.165386851G>T | CA349036392 | SCN2A | c.4657G>T (p.Asp1553Tyr) c.*2976G>T (n.*2976G>T) c.*2644G>T (n.*2644G>T) c.*5180G>T (n.*5180G>T) c.*2599G>T (n.*2599G>T) c.4261G>T (p.Asp1421Tyr) n.8088G>T c.4627G>T (p.Asp1543Tyr) c.3904G>T (p.Asp1302Tyr) c.2455G>T (p.Asp819Tyr) | |
2 | g.165386852A>C | CA349036394 | SCN2A | c.4658A>C (p.Asp1553Ala) c.*2977A>C (n.*2977A>C) c.*2645A>C (n.*2645A>C) c.*5181A>C (n.*5181A>C) c.*2600A>C (n.*2600A>C) c.4262A>C (p.Asp1421Ala) n.8089A>C c.4628A>C (p.Asp1543Ala) c.3905A>C (p.Asp1302Ala) c.2456A>C (p.Asp819Ala) | |
2 | g.165386852A>G | CA349036395 | SCN2A | c.4658A>G (p.Asp1553Gly) c.*2977A>G (n.*2977A>G) c.*2645A>G (n.*2645A>G) c.*5181A>G (n.*5181A>G) c.*2600A>G (n.*2600A>G) c.4262A>G (p.Asp1421Gly) n.8089A>G c.4628A>G (p.Asp1543Gly) c.3905A>G (p.Asp1302Gly) c.2456A>G (p.Asp819Gly) | |
2 | g.165386852A>T | CA349036396 | SCN2A | c.4658A>T (p.Asp1553Val) c.*2977A>T (n.*2977A>T) c.*2645A>T (n.*2645A>T) c.*5181A>T (n.*5181A>T) c.*2600A>T (n.*2600A>T) c.4262A>T (p.Asp1421Val) n.8089A>T c.4628A>T (p.Asp1543Val) c.3905A>T (p.Asp1302Val) c.2456A>T (p.Asp819Val) | |
2 | g.165386853T>A | CA349036398 | SCN2A | c.4659T>A (p.Asp1553Glu) c.*2978T>A (n.*2978T>A) c.*2646T>A (n.*2646T>A) c.*5182T>A (n.*5182T>A) c.*2601T>A (n.*2601T>A) c.4263T>A (p.Asp1421Glu) n.8090T>A c.4629T>A (p.Asp1543Glu) c.3906T>A (p.Asp1302Glu) c.2457T>A (p.Asp819Glu) | gnomAD v4 |
2 | g.165386853T>C | CA429972606 | SCN2A | c.4659T>C (p.Asp1553=) c.*2978T>C (n.*2978T>C) c.*2646T>C (n.*2646T>C) c.*5182T>C (n.*5182T>C) c.*2601T>C (n.*2601T>C) c.4263T>C (p.Asp1421=) n.8090T>C c.4629T>C (p.Asp1543=) c.3906T>C (p.Asp1302=) c.2457T>C (p.Asp819=) | ClinVar gnomAD v4 |
2 | g.165386853T>G | CA349036400 | SCN2A | c.4659T>G (p.Asp1553Glu) c.*2978T>G (n.*2978T>G) c.*2646T>G (n.*2646T>G) c.*5182T>G (n.*5182T>G) c.*2601T>G (n.*2601T>G) c.4263T>G (p.Asp1421Glu) n.8090T>G c.4629T>G (p.Asp1543Glu) c.3906T>G (p.Asp1302Glu) c.2457T>G (p.Asp819Glu) | |
2 | g.165386854G>A | CA349036402 | SCN2A | c.4660G>A (p.Asp1554Asn) c.*2979G>A (n.*2979G>A) c.*2647G>A (n.*2647G>A) c.*5183G>A (n.*5183G>A) c.*2602G>A (n.*2602G>A) c.4264G>A (p.Asp1422Asn) n.8091G>A c.4630G>A (p.Asp1544Asn) c.3907G>A (p.Asp1303Asn) c.2458G>A (p.Asp820Asn) | |
2 | g.165386854G>C | CA349036403 | SCN2A | c.4660G>C (p.Asp1554His) c.*2979G>C (n.*2979G>C) c.*2647G>C (n.*2647G>C) c.*5183G>C (n.*5183G>C) c.*2602G>C (n.*2602G>C) c.4264G>C (p.Asp1422His) n.8091G>C c.4630G>C (p.Asp1544His) c.3907G>C (p.Asp1303His) c.2458G>C (p.Asp820His) | |
2 | g.165386854G>T | CA349036405 | SCN2A | c.4660G>T (p.Asp1554Tyr) c.*2979G>T (n.*2979G>T) c.*2647G>T (n.*2647G>T) c.*5183G>T (n.*5183G>T) c.*2602G>T (n.*2602G>T) c.4264G>T (p.Asp1422Tyr) n.8091G>T c.4630G>T (p.Asp1544Tyr) c.3907G>T (p.Asp1303Tyr) c.2458G>T (p.Asp820Tyr) | ClinVar |
2 | g.165386855A= | CA1304563775 | SCN2A | c.4661A= (p.Asp1554=) c.*2980A= (n.*2980A=) c.*2648A= (n.*2648A=) c.*5184A= (n.*5184A=) c.*2603A= (n.*2603A=) c.4265A= (p.Asp1422=) n.8092A= c.4631A= (p.Asp1544=) c.3908A= (p.Asp1303=) c.2459A= (p.Asp820=) | |
2 | g.165386855A>C | CA349036406 | SCN2A | c.4661A>C (p.Asp1554Ala) c.*2980A>C (n.*2980A>C) c.*2648A>C (n.*2648A>C) c.*5184A>C (n.*5184A>C) c.*2603A>C (n.*2603A>C) c.4265A>C (p.Asp1422Ala) n.8092A>C c.4631A>C (p.Asp1544Ala) c.3908A>C (p.Asp1303Ala) c.2459A>C (p.Asp820Ala) | |
2 | g.165386855A>G | CA318196 | SCN2A | c.4661A>G (p.Asp1554Gly) c.*2980A>G (n.*2980A>G) c.*2648A>G (n.*2648A>G) c.*5184A>G (n.*5184A>G) c.*2603A>G (n.*2603A>G) c.4265A>G (p.Asp1422Gly) n.8092A>G c.4631A>G (p.Asp1544Gly) c.3908A>G (p.Asp1303Gly) c.2459A>G (p.Asp820Gly) | ClinVar dbSNP gnomAD v4 |
2 | g.165386855A>T | CA349036407 | SCN2A | c.4661A>T (p.Asp1554Val) c.*2980A>T (n.*2980A>T) c.*2648A>T (n.*2648A>T) c.*5184A>T (n.*5184A>T) c.*2603A>T (n.*2603A>T) c.4265A>T (p.Asp1422Val) n.8092A>T c.4631A>T (p.Asp1544Val) c.3908A>T (p.Asp1303Val) c.2459A>T (p.Asp820Val) | |
2 | g.165386856C>A | CA349036409 | SCN2A | c.4662C>A (p.Asp1554Glu) c.*2981C>A (n.*2981C>A) c.*2649C>A (n.*2649C>A) c.*5185C>A (n.*5185C>A) c.*2604C>A (n.*2604C>A) c.4266C>A (p.Asp1422Glu) n.8093C>A c.4632C>A (p.Asp1544Glu) c.3909C>A (p.Asp1303Glu) c.2460C>A (p.Asp820Glu) | |
2 | g.165386856C>G | CA349036411 | SCN2A | c.4662C>G (p.Asp1554Glu) c.*2981C>G (n.*2981C>G) c.*2649C>G (n.*2649C>G) c.*5185C>G (n.*5185C>G) c.*2604C>G (n.*2604C>G) c.4266C>G (p.Asp1422Glu) n.8093C>G c.4632C>G (p.Asp1544Glu) c.3909C>G (p.Asp1303Glu) c.2460C>G (p.Asp820Glu) | |
2 | g.165386856C>T | CA429972611 | SCN2A | c.4662C>T (p.Asp1554=) c.*2981C>T (n.*2981C>T) c.*2649C>T (n.*2649C>T) c.*5185C>T (n.*5185C>T) c.*2604C>T (n.*2604C>T) c.4266C>T (p.Asp1422=) n.8093C>T c.4632C>T (p.Asp1544=) c.3909C>T (p.Asp1303=) c.2460C>T (p.Asp820=) | gnomAD v4 |
2 | g.165386857C>A | CA349036412 | SCN2A | c.4663C>A (p.Gln1555Lys) c.*2982C>A (n.*2982C>A) c.*2650C>A (n.*2650C>A) c.*5186C>A (n.*5186C>A) c.*2605C>A (n.*2605C>A) c.4267C>A (p.Gln1423Lys) n.8094C>A c.4633C>A (p.Gln1545Lys) c.3910C>A (p.Gln1304Lys) c.2461C>A (p.Gln821Lys) | |
2 | g.165386857C= | CA1304563776 | SCN2A | c.4663C= (p.Gln1555=) c.*2982C= (n.*2982C=) c.*2650C= (n.*2650C=) c.*5186C= (n.*5186C=) c.*2605C= (n.*2605C=) c.4267C= (p.Gln1423=) n.8094C= c.4633C= (p.Gln1545=) c.3910C= (p.Gln1304=) c.2461C= (p.Gln821=) | |
2 | g.165386857C>G | CA349036416 | SCN2A | c.4663C>G (p.Gln1555Glu) c.*2982C>G (n.*2982C>G) c.*2650C>G (n.*2650C>G) c.*5186C>G (n.*5186C>G) c.*2605C>G (n.*2605C>G) c.4267C>G (p.Gln1423Glu) n.8094C>G c.4633C>G (p.Gln1545Glu) c.3910C>G (p.Gln1304Glu) c.2461C>G (p.Gln821Glu) | |
2 | g.165386857C>T | CA349036414 | SCN2A | c.4663C>T (p.Gln1555Ter) c.*2982C>T (n.*2982C>T) c.*2650C>T (n.*2650C>T) c.*5186C>T (n.*5186C>T) c.*2605C>T (n.*2605C>T) c.4267C>T (p.Gln1423Ter) n.8094C>T c.4633C>T (p.Gln1545Ter) c.3910C>T (p.Gln1304Ter) c.2461C>T (p.Gln821Ter) | dbSNP |
2 | g.165386858A>C | CA349036418 | SCN2A | c.4664A>C (p.Gln1555Pro) c.*2983A>C (n.*2983A>C) c.*2651A>C (n.*2651A>C) c.*5187A>C (n.*5187A>C) c.*2606A>C (n.*2606A>C) c.4268A>C (p.Gln1423Pro) n.8095A>C c.4634A>C (p.Gln1545Pro) c.3911A>C (p.Gln1304Pro) c.2462A>C (p.Gln821Pro) | |
2 | g.165386858A>G | CA349036421 | SCN2A | c.4664A>G (p.Gln1555Arg) c.*2983A>G (n.*2983A>G) c.*2651A>G (n.*2651A>G) c.*5187A>G (n.*5187A>G) c.*2606A>G (n.*2606A>G) c.4268A>G (p.Gln1423Arg) n.8095A>G c.4634A>G (p.Gln1545Arg) c.3911A>G (p.Gln1304Arg) c.2462A>G (p.Gln821Arg) | |
2 | g.165386858A>T | CA349036420 | SCN2A | c.4664A>T (p.Gln1555Leu) c.*2983A>T (n.*2983A>T) c.*2651A>T (n.*2651A>T) c.*5187A>T (n.*5187A>T) c.*2606A>T (n.*2606A>T) c.4268A>T (p.Gln1423Leu) n.8095A>T c.4634A>T (p.Gln1545Leu) c.3911A>T (p.Gln1304Leu) c.2462A>T (p.Gln821Leu) | |
2 | g.165386859G>A | CA429972613 | SCN2A | c.4665G>A (p.Gln1555=) c.*2984G>A (n.*2984G>A) c.*2652G>A (n.*2652G>A) c.*5188G>A (n.*5188G>A) c.*2607G>A (n.*2607G>A) c.4269G>A (p.Gln1423=) n.8096G>A c.4635G>A (p.Gln1545=) c.3912G>A (p.Gln1304=) c.2463G>A (p.Gln821=) | |
2 | g.165386859G>C | CA349036423 | SCN2A | c.4665G>C (p.Gln1555His) c.*2984G>C (n.*2984G>C) c.*2652G>C (n.*2652G>C) c.*5188G>C (n.*5188G>C) c.*2607G>C (n.*2607G>C) c.4269G>C (p.Gln1423His) n.8096G>C c.4635G>C (p.Gln1545His) c.3912G>C (p.Gln1304His) c.2463G>C (p.Gln821His) | ClinVar dbSNP |
2 | g.165386859G= | CA1304563777 | SCN2A | c.4665G= (p.Gln1555=) c.*2984G= (n.*2984G=) c.*2652G= (n.*2652G=) c.*5188G= (n.*5188G=) c.*2607G= (n.*2607G=) c.4269G= (p.Gln1423=) n.8096G= c.4635G= (p.Gln1545=) c.3912G= (p.Gln1304=) c.2463G= (p.Gln821=) | |
2 | g.165386859G>T | CA349036424 | SCN2A | c.4665G>T (p.Gln1555His) c.*2984G>T (n.*2984G>T) c.*2652G>T (n.*2652G>T) c.*5188G>T (n.*5188G>T) c.*2607G>T (n.*2607G>T) c.4269G>T (p.Gln1423His) n.8096G>T c.4635G>T (p.Gln1545His) c.3912G>T (p.Gln1304His) c.2463G>T (p.Gln821His) | |
2 | g.165386860A>C | CA349036425 | SCN2A | c.4666A>C (p.Ser1556Arg) c.*2985A>C (n.*2985A>C) c.*2653A>C (n.*2653A>C) c.*5189A>C (n.*5189A>C) c.*2608A>C (n.*2608A>C) c.4270A>C (p.Ser1424Arg) n.8097A>C c.4636A>C (p.Ser1546Arg) c.3913A>C (p.Ser1305Arg) c.2464A>C (p.Ser822Arg) | |
2 | g.165386860A>G | CA349036427 | SCN2A | c.4666A>G (p.Ser1556Gly) c.*2985A>G (n.*2985A>G) c.*2653A>G (n.*2653A>G) c.*5189A>G (n.*5189A>G) c.*2608A>G (n.*2608A>G) c.4270A>G (p.Ser1424Gly) n.8097A>G c.4636A>G (p.Ser1546Gly) c.3913A>G (p.Ser1305Gly) c.2464A>G (p.Ser822Gly) | |
2 | g.165386860A>T | CA349036428 | SCN2A | c.4666A>T (p.Ser1556Cys) c.*2985A>T (n.*2985A>T) c.*2653A>T (n.*2653A>T) c.*5189A>T (n.*5189A>T) c.*2608A>T (n.*2608A>T) c.4270A>T (p.Ser1424Cys) n.8097A>T c.4636A>T (p.Ser1546Cys) c.3913A>T (p.Ser1305Cys) c.2464A>T (p.Ser822Cys) | |
2 | g.165386861G>A | CA349036430 | SCN2A | c.4667G>A (p.Ser1556Asn) c.*2986G>A (n.*2986G>A) c.*2654G>A (n.*2654G>A) c.*5190G>A (n.*5190G>A) c.*2609G>A (n.*2609G>A) c.4271G>A (p.Ser1424Asn) n.8098G>A c.4637G>A (p.Ser1546Asn) c.3914G>A (p.Ser1305Asn) c.2465G>A (p.Ser822Asn) | |
2 | g.165386861G>C | CA349036432 | SCN2A | c.4667G>C (p.Ser1556Thr) c.*2986G>C (n.*2986G>C) c.*2654G>C (n.*2654G>C) c.*5190G>C (n.*5190G>C) c.*2609G>C (n.*2609G>C) c.4271G>C (p.Ser1424Thr) n.8098G>C c.4637G>C (p.Ser1546Thr) c.3914G>C (p.Ser1305Thr) c.2465G>C (p.Ser822Thr) | ClinVar |
2 | g.165386861G= | CA1304563778 | SCN2A | c.4667G= (p.Ser1556=) c.*2986G= (n.*2986G=) c.*2654G= (n.*2654G=) c.*5190G= (n.*5190G=) c.*2609G= (n.*2609G=) c.4271G= (p.Ser1424=) n.8098G= c.4637G= (p.Ser1546=) c.3914G= (p.Ser1305=) c.2465G= (p.Ser822=) | |
2 | g.165386861G>T | CA59750995 | SCN2A | c.4667G>T (p.Ser1556Ile) c.*2986G>T (n.*2986G>T) c.*2654G>T (n.*2654G>T) c.*5190G>T (n.*5190G>T) c.*2609G>T (n.*2609G>T) c.4271G>T (p.Ser1424Ile) n.8098G>T c.4637G>T (p.Ser1546Ile) c.3914G>T (p.Ser1305Ile) c.2465G>T (p.Ser822Ile) | dbSNP |
2 | g.165386862T>A | CA349036433 | SCN2A | c.4668T>A (p.Ser1556Arg) c.*2987T>A (n.*2987T>A) c.*2655T>A (n.*2655T>A) c.*5191T>A (n.*5191T>A) c.*2610T>A (n.*2610T>A) c.4272T>A (p.Ser1424Arg) n.8099T>A c.4638T>A (p.Ser1546Arg) c.3915T>A (p.Ser1305Arg) c.2466T>A (p.Ser822Arg) | |
2 | g.165386862T>C | CA429972617 | SCN2A | c.4668T>C (p.Ser1556=) c.*2987T>C (n.*2987T>C) c.*2655T>C (n.*2655T>C) c.*5191T>C (n.*5191T>C) c.*2610T>C (n.*2610T>C) c.4272T>C (p.Ser1424=) n.8099T>C c.4638T>C (p.Ser1546=) c.3915T>C (p.Ser1305=) c.2466T>C (p.Ser822=) | |
2 | g.165386862T>G | CA349036435 | SCN2A | c.4668T>G (p.Ser1556Arg) c.*2987T>G (n.*2987T>G) c.*2655T>G (n.*2655T>G) c.*5191T>G (n.*5191T>G) c.*2610T>G (n.*2610T>G) c.4272T>G (p.Ser1424Arg) n.8099T>G c.4638T>G (p.Ser1546Arg) c.3915T>G (p.Ser1305Arg) c.2466T>G (p.Ser822Arg) | dbSNP |
2 | g.165386862T= | CA1304563779 | SCN2A | c.4668T= (p.Ser1556=) c.*2987T= (n.*2987T=) c.*2655T= (n.*2655T=) c.*5191T= (n.*5191T=) c.*2610T= (n.*2610T=) c.4272T= (p.Ser1424=) n.8099T= c.4638T= (p.Ser1546=) c.3915T= (p.Ser1305=) c.2466T= (p.Ser822=) | |
2 | g.165386863C>A | CA349036440 | SCN2A | c.4669C>A (p.Gln1557Lys) c.*2988C>A (n.*2988C>A) c.*2656C>A (n.*2656C>A) c.*5192C>A (n.*5192C>A) c.*2611C>A (n.*2611C>A) c.4273C>A (p.Gln1425Lys) n.8100C>A c.4639C>A (p.Gln1547Lys) c.3916C>A (p.Gln1306Lys) c.2467C>A (p.Gln823Lys) | |
2 | g.165386863C= | CA1304563780 | SCN2A | c.4669C= (p.Gln1557=) c.*2988C= (n.*2988C=) c.*2656C= (n.*2656C=) c.*5192C= (n.*5192C=) c.*2611C= (n.*2611C=) c.4273C= (p.Gln1425=) n.8100C= c.4639C= (p.Gln1547=) c.3916C= (p.Gln1306=) c.2467C= (p.Gln823=) | |
2 | g.165386863C>G | CA349036438 | SCN2A | c.4669C>G (p.Gln1557Glu) c.*2988C>G (n.*2988C>G) c.*2656C>G (n.*2656C>G) c.*5192C>G (n.*5192C>G) c.*2611C>G (n.*2611C>G) c.4273C>G (p.Gln1425Glu) n.8100C>G c.4639C>G (p.Gln1547Glu) c.3916C>G (p.Gln1306Glu) c.2467C>G (p.Gln823Glu) | |
2 | g.165386863C>T | CA349036437 | SCN2A | c.4669C>T (p.Gln1557Ter) c.*2988C>T (n.*2988C>T) c.*2656C>T (n.*2656C>T) c.*5192C>T (n.*5192C>T) c.*2611C>T (n.*2611C>T) c.4273C>T (p.Gln1425Ter) n.8100C>T c.4639C>T (p.Gln1547Ter) c.3916C>T (p.Gln1306Ter) c.2467C>T (p.Gln823Ter) | dbSNP |
2 | g.165386864A>C | CA349036441 | SCN2A | c.4670A>C (p.Gln1557Pro) c.*2989A>C (n.*2989A>C) c.*2657A>C (n.*2657A>C) c.*5193A>C (n.*5193A>C) c.*2612A>C (n.*2612A>C) c.4274A>C (p.Gln1425Pro) n.8101A>C c.4640A>C (p.Gln1547Pro) c.3917A>C (p.Gln1306Pro) c.2468A>C (p.Gln823Pro) | |
2 | g.165386864A>G | CA349036442 | SCN2A | c.4670A>G (p.Gln1557Arg) c.*2989A>G (n.*2989A>G) c.*2657A>G (n.*2657A>G) c.*5193A>G (n.*5193A>G) c.*2612A>G (n.*2612A>G) c.4274A>G (p.Gln1425Arg) n.8101A>G c.4640A>G (p.Gln1547Arg) c.3917A>G (p.Gln1306Arg) c.2468A>G (p.Gln823Arg) | gnomAD v4 |
2 | g.165386864A>T | CA349036444 | SCN2A | c.4670A>T (p.Gln1557Leu) c.*2989A>T (n.*2989A>T) c.*2657A>T (n.*2657A>T) c.*5193A>T (n.*5193A>T) c.*2612A>T (n.*2612A>T) c.4274A>T (p.Gln1425Leu) n.8101A>T c.4640A>T (p.Gln1547Leu) c.3917A>T (p.Gln1306Leu) c.2468A>T (p.Gln823Leu) | |
2 | g.165386865dup | CA760137600 | SCN2A | c.4671dup (p.Glu1558ArgfsTer10) c.*2990dup (n.*2990dup) c.*2658dup (n.*2658dup) c.*5194dup (n.*5194dup) c.*2613dup (n.*2613dup) c.4275dup (p.Glu1426ArgfsTer10) n.8102dup c.4641dup (p.Glu1548ArgfsTer10) c.3918dup (p.Glu1307ArgfsTer10) c.2469dup (p.Glu824ArgfsTer10) | dbSNP |
2 | g.165386865A= | CA1304563781 | SCN2A | c.4671A= (p.Gln1557=) c.*2990A= (n.*2990A=) c.*2658A= (n.*2658A=) c.*5194A= (n.*5194A=) c.*2613A= (n.*2613A=) c.4275A= (p.Gln1425=) n.8102A= c.4641A= (p.Gln1547=) c.3918A= (p.Gln1306=) c.2469A= (p.Gln823=) | |
2 | g.165386865A>C | CA349036446 | SCN2A | c.4671A>C (p.Gln1557His) c.*2990A>C (n.*2990A>C) c.*2658A>C (n.*2658A>C) c.*5194A>C (n.*5194A>C) c.*2613A>C (n.*2613A>C) c.4275A>C (p.Gln1425His) n.8102A>C c.4641A>C (p.Gln1547His) c.3918A>C (p.Gln1306His) c.2469A>C (p.Gln823His) | |
2 | g.165386865A>G | CA1940314 | SCN2A | c.4671A>G (p.Gln1557=) c.*2990A>G (n.*2990A>G) c.*2658A>G (n.*2658A>G) c.*5194A>G (n.*5194A>G) c.*2613A>G (n.*2613A>G) c.4275A>G (p.Gln1425=) n.8102A>G c.4641A>G (p.Gln1547=) c.3918A>G (p.Gln1306=) c.2469A>G (p.Gln823=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.165386865A>T | CA349036448 | SCN2A | c.4671A>T (p.Gln1557His) c.*2990A>T (n.*2990A>T) c.*2658A>T (n.*2658A>T) c.*5194A>T (n.*5194A>T) c.*2613A>T (n.*2613A>T) c.4275A>T (p.Gln1425His) n.8102A>T c.4641A>T (p.Gln1547His) c.3918A>T (p.Gln1306His) c.2469A>T (p.Gln823His) | |
2 | g.165386866G>A | CA349036449 | SCN2A | c.4672G>A (p.Glu1558Lys) c.*2991G>A (n.*2991G>A) c.*2659G>A (n.*2659G>A) c.*5195G>A (n.*5195G>A) c.*2614G>A (n.*2614G>A) c.4276G>A (p.Glu1426Lys) n.8103G>A c.4642G>A (p.Glu1548Lys) c.3919G>A (p.Glu1307Lys) c.2470G>A (p.Glu824Lys) | COSMIC COSMIC |
2 | g.165386866G>C | CA349036451 | SCN2A | c.4672G>C (p.Glu1558Gln) c.*2991G>C (n.*2991G>C) c.*2659G>C (n.*2659G>C) c.*5195G>C (n.*5195G>C) c.*2614G>C (n.*2614G>C) c.4276G>C (p.Glu1426Gln) n.8103G>C c.4642G>C (p.Glu1548Gln) c.3919G>C (p.Glu1307Gln) c.2470G>C (p.Glu824Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.165386866G= | CA1304563782 | SCN2A | c.4672G= (p.Glu1558=) c.*2991G= (n.*2991G=) c.*2659G= (n.*2659G=) c.*5195G= (n.*5195G=) c.*2614G= (n.*2614G=) c.4276G= (p.Glu1426=) n.8103G= c.4642G= (p.Glu1548=) c.3919G= (p.Glu1307=) c.2470G= (p.Glu824=) | |
2 | g.165386866G>T | CA349036452 | SCN2A | c.4672G>T (p.Glu1558Ter) c.*2991G>T (n.*2991G>T) c.*2659G>T (n.*2659G>T) c.*5195G>T (n.*5195G>T) c.*2614G>T (n.*2614G>T) c.4276G>T (p.Glu1426Ter) n.8103G>T c.4642G>T (p.Glu1548Ter) c.3919G>T (p.Glu1307Ter) c.2470G>T (p.Glu824Ter) | dbSNP |
2 | g.165386867A>C | CA349036454 | SCN2A | c.4673A>C (p.Glu1558Ala) c.*2992A>C (n.*2992A>C) c.*2660A>C (n.*2660A>C) c.*5196A>C (n.*5196A>C) c.*2615A>C (n.*2615A>C) c.4277A>C (p.Glu1426Ala) n.8104A>C c.4643A>C (p.Glu1548Ala) c.3920A>C (p.Glu1307Ala) c.2471A>C (p.Glu824Ala) | |
2 | g.165386867A>G | CA349036455 | SCN2A | c.4673A>G (p.Glu1558Gly) c.*2992A>G (n.*2992A>G) c.*2660A>G (n.*2660A>G) c.*5196A>G (n.*5196A>G) c.*2615A>G (n.*2615A>G) c.4277A>G (p.Glu1426Gly) n.8104A>G c.4643A>G (p.Glu1548Gly) c.3920A>G (p.Glu1307Gly) c.2471A>G (p.Glu824Gly) | |
2 | g.165386867A>T | CA349036456 | SCN2A | c.4673A>T (p.Glu1558Val) c.*2992A>T (n.*2992A>T) c.*2660A>T (n.*2660A>T) c.*5196A>T (n.*5196A>T) c.*2615A>T (n.*2615A>T) c.4277A>T (p.Glu1426Val) n.8104A>T c.4643A>T (p.Glu1548Val) c.3920A>T (p.Glu1307Val) c.2471A>T (p.Glu824Val) | |
2 | g.165386868A>C | CA349036458 | SCN2A | c.4674A>C (p.Glu1558Asp) c.*2993A>C (n.*2993A>C) c.*2661A>C (n.*2661A>C) c.*5197A>C (n.*5197A>C) c.*2616A>C (n.*2616A>C) c.4278A>C (p.Glu1426Asp) n.8105A>C c.4644A>C (p.Glu1548Asp) c.3921A>C (p.Glu1307Asp) c.2472A>C (p.Glu824Asp) | |
2 | g.165386868A>G | CA429972627 | SCN2A | c.4674A>G (p.Glu1558=) c.*2993A>G (n.*2993A>G) c.*2661A>G (n.*2661A>G) c.*5197A>G (n.*5197A>G) c.*2616A>G (n.*2616A>G) c.4278A>G (p.Glu1426=) n.8105A>G c.4644A>G (p.Glu1548=) c.3921A>G (p.Glu1307=) c.2472A>G (p.Glu824=) | |
2 | g.165386868A>T | CA349036459 | SCN2A | c.4674A>T (p.Glu1558Asp) c.*2993A>T (n.*2993A>T) c.*2661A>T (n.*2661A>T) c.*5197A>T (n.*5197A>T) c.*2616A>T (n.*2616A>T) c.4278A>T (p.Glu1426Asp) n.8105A>T c.4644A>T (p.Glu1548Asp) c.3921A>T (p.Glu1307Asp) c.2472A>T (p.Glu824Asp) | |
2 | g.165386869A= | CA1304563783 | SCN2A | c.4675A= (p.Met1559=) c.*2994A= (n.*2994A=) c.*2662A= (n.*2662A=) c.*5198A= (n.*5198A=) c.*2617A= (n.*2617A=) c.4279A= (p.Met1427=) n.8106A= c.4645A= (p.Met1549=) c.3922A= (p.Met1308=) c.2473A= (p.Met825=) | |
2 | g.165386869A>C | CA349036460 | SCN2A | c.4675A>C (p.Met1559Leu) c.*2994A>C (n.*2994A>C) c.*2662A>C (n.*2662A>C) c.*5198A>C (n.*5198A>C) c.*2617A>C (n.*2617A>C) c.4279A>C (p.Met1427Leu) n.8106A>C c.4645A>C (p.Met1549Leu) c.3922A>C (p.Met1308Leu) c.2473A>C (p.Met825Leu) | dbSNP |
2 | g.165386869A>G | CA349036461 | SCN2A | c.4675A>G (p.Met1559Val) c.*2994A>G (n.*2994A>G) c.*2662A>G (n.*2662A>G) c.*5198A>G (n.*5198A>G) c.*2617A>G (n.*2617A>G) c.4279A>G (p.Met1427Val) n.8106A>G c.4645A>G (p.Met1549Val) c.3922A>G (p.Met1308Val) c.2473A>G (p.Met825Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.165386869A>T | CA349036462 | SCN2A | c.4675A>T (p.Met1559Leu) c.*2994A>T (n.*2994A>T) c.*2662A>T (n.*2662A>T) c.*5198A>T (n.*5198A>T) c.*2617A>T (n.*2617A>T) c.4279A>T (p.Met1427Leu) n.8106A>T c.4645A>T (p.Met1549Leu) c.3922A>T (p.Met1308Leu) c.2473A>T (p.Met825Leu) | |
2 | g.165386870T>A | CA349036464 | SCN2A | c.4676T>A (p.Met1559Lys) c.*2995T>A (n.*2995T>A) c.*2663T>A (n.*2663T>A) c.*5199T>A (n.*5199T>A) c.*2618T>A (n.*2618T>A) c.4280T>A (p.Met1427Lys) n.8107T>A c.4646T>A (p.Met1549Lys) c.3923T>A (p.Met1308Lys) c.2474T>A (p.Met825Lys) | |
2 | g.165386870T>C | CA349036465 | SCN2A | c.4676T>C (p.Met1559Thr) c.*2995T>C (n.*2995T>C) c.*2663T>C (n.*2663T>C) c.*5199T>C (n.*5199T>C) c.*2618T>C (n.*2618T>C) c.4280T>C (p.Met1427Thr) n.8107T>C c.4646T>C (p.Met1549Thr) c.3923T>C (p.Met1308Thr) c.2474T>C (p.Met825Thr) | |
2 | g.165386870T>G | CA349036467 | SCN2A | c.4676T>G (p.Met1559Arg) c.*2995T>G (n.*2995T>G) c.*2663T>G (n.*2663T>G) c.*5199T>G (n.*5199T>G) c.*2618T>G (n.*2618T>G) c.4280T>G (p.Met1427Arg) n.8107T>G c.4646T>G (p.Met1549Arg) c.3923T>G (p.Met1308Arg) c.2474T>G (p.Met825Arg) | |
2 | g.165386871G>A | CA349036468 | SCN2A | c.4677G>A (p.Met1559Ile) c.*2996G>A (n.*2996G>A) c.*2664G>A (n.*2664G>A) c.*5200G>A (n.*5200G>A) c.*2619G>A (n.*2619G>A) c.4281G>A (p.Met1427Ile) n.8108G>A c.4647G>A (p.Met1549Ile) c.3924G>A (p.Met1308Ile) c.2475G>A (p.Met825Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.165386871G>C | CA349036469 | SCN2A | c.4677G>C (p.Met1559Ile) c.*2996G>C (n.*2996G>C) c.*2664G>C (n.*2664G>C) c.*5200G>C (n.*5200G>C) c.*2619G>C (n.*2619G>C) c.4281G>C (p.Met1427Ile) n.8108G>C c.4647G>C (p.Met1549Ile) c.3924G>C (p.Met1308Ile) c.2475G>C (p.Met825Ile) | |
2 | g.165386871G= | CA1304563784 | SCN2A | c.4677G= (p.Met1559=) c.*2996G= (n.*2996G=) c.*2664G= (n.*2664G=) c.*5200G= (n.*5200G=) c.*2619G= (n.*2619G=) c.4281G= (p.Met1427=) n.8108G= c.4647G= (p.Met1549=) c.3924G= (p.Met1308=) c.2475G= (p.Met825=) | |
2 | g.165386871G>T | CA349036471 | SCN2A | c.4677G>T (p.Met1559Ile) c.*2996G>T (n.*2996G>T) c.*2664G>T (n.*2664G>T) c.*5200G>T (n.*5200G>T) c.*2619G>T (n.*2619G>T) c.4281G>T (p.Met1427Ile) n.8108G>T c.4647G>T (p.Met1549Ile) c.3924G>T (p.Met1308Ile) c.2475G>T (p.Met825Ile) | dbSNP |
2 | g.165386872A>C | CA349036472 | SCN2A | c.4678A>C (p.Thr1560Pro) c.*2997A>C (n.*2997A>C) c.*2665A>C (n.*2665A>C) c.*5201A>C (n.*5201A>C) c.*2620A>C (n.*2620A>C) c.4282A>C (p.Thr1428Pro) n.8109A>C c.4648A>C (p.Thr1550Pro) c.3925A>C (p.Thr1309Pro) c.2476A>C (p.Thr826Pro) | |
2 | g.165386872A>G | CA349036474 | SCN2A | c.4678A>G (p.Thr1560Ala) c.*2997A>G (n.*2997A>G) c.*2665A>G (n.*2665A>G) c.*5201A>G (n.*5201A>G) c.*2620A>G (n.*2620A>G) c.4282A>G (p.Thr1428Ala) n.8109A>G c.4648A>G (p.Thr1550Ala) c.3925A>G (p.Thr1309Ala) c.2476A>G (p.Thr826Ala) | |
2 | g.165386872A>T | CA349036475 | SCN2A | c.4678A>T (p.Thr1560Ser) c.*2997A>T (n.*2997A>T) c.*2665A>T (n.*2665A>T) c.*5201A>T (n.*5201A>T) c.*2620A>T (n.*2620A>T) c.4282A>T (p.Thr1428Ser) n.8109A>T c.4648A>T (p.Thr1550Ser) c.3925A>T (p.Thr1309Ser) c.2476A>T (p.Thr826Ser) | |
2 | g.165386873C>A | CA349036480 | SCN2A | c.4679C>A (p.Thr1560Lys) c.*2998C>A (n.*2998C>A) c.*2666C>A (n.*2666C>A) c.*5202C>A (n.*5202C>A) c.*2621C>A (n.*2621C>A) c.4283C>A (p.Thr1428Lys) n.8110C>A c.4649C>A (p.Thr1550Lys) c.3926C>A (p.Thr1309Lys) c.2477C>A (p.Thr826Lys) | |
2 | g.165386873C>G | CA349036477 | SCN2A | c.4679C>G (p.Thr1560Arg) c.*2998C>G (n.*2998C>G) c.*2666C>G (n.*2666C>G) c.*5202C>G (n.*5202C>G) c.*2621C>G (n.*2621C>G) c.4283C>G (p.Thr1428Arg) n.8110C>G c.4649C>G (p.Thr1550Arg) c.3926C>G (p.Thr1309Arg) c.2477C>G (p.Thr826Arg) | |
2 | g.165386873C>T | CA349036478 | SCN2A | c.4679C>T (p.Thr1560Ile) c.*2998C>T (n.*2998C>T) c.*2666C>T (n.*2666C>T) c.*5202C>T (n.*5202C>T) c.*2621C>T (n.*2621C>T) c.4283C>T (p.Thr1428Ile) n.8110C>T c.4649C>T (p.Thr1550Ile) c.3926C>T (p.Thr1309Ile) c.2477C>T (p.Thr826Ile) | gnomAD v4 |
2 | g.165386874A>C | CA429972632 | SCN2A | c.4680A>C (p.Thr1560=) c.*2999A>C (n.*2999A>C) c.*2667A>C (n.*2667A>C) c.*5203A>C (n.*5203A>C) c.*2622A>C (n.*2622A>C) c.4284A>C (p.Thr1428=) n.8111A>C c.4650A>C (p.Thr1550=) c.3927A>C (p.Thr1309=) c.2478A>C (p.Thr826=) | |
2 | g.165386874A>G | CA429972633 | SCN2A | c.4680A>G (p.Thr1560=) c.*2999A>G (n.*2999A>G) c.*2667A>G (n.*2667A>G) c.*5203A>G (n.*5203A>G) c.*2622A>G (n.*2622A>G) c.4284A>G (p.Thr1428=) n.8111A>G c.4650A>G (p.Thr1550=) c.3927A>G (p.Thr1309=) c.2478A>G (p.Thr826=) | |
2 | g.165386874A>T | CA429972634 | SCN2A | c.4680A>T (p.Thr1560=) c.*2999A>T (n.*2999A>T) c.*2667A>T (n.*2667A>T) c.*5203A>T (n.*5203A>T) c.*2622A>T (n.*2622A>T) c.4284A>T (p.Thr1428=) n.8111A>T c.4650A>T (p.Thr1550=) c.3927A>T (p.Thr1309=) c.2478A>T (p.Thr826=) | |
2 | g.165386875A>C | CA349036482 | SCN2A | c.4681A>C (p.Asn1561His) c.*3000A>C (n.*3000A>C) c.*2668A>C (n.*2668A>C) c.*5204A>C (n.*5204A>C) c.*2623A>C (n.*2623A>C) c.4285A>C (p.Asn1429His) n.8112A>C c.4651A>C (p.Asn1551His) c.3928A>C (p.Asn1310His) c.2479A>C (p.Asn827His) | |
2 | g.165386875A>G | CA349036483 | SCN2A | c.4681A>G (p.Asn1561Asp) c.*3000A>G (n.*3000A>G) c.*2668A>G (n.*2668A>G) c.*5204A>G (n.*5204A>G) c.*2623A>G (n.*2623A>G) c.4285A>G (p.Asn1429Asp) n.8112A>G c.4651A>G (p.Asn1551Asp) c.3928A>G (p.Asn1310Asp) c.2479A>G (p.Asn827Asp) | |
2 | g.165386875A>T | CA349036484 | SCN2A | c.4681A>T (p.Asn1561Tyr) c.*3000A>T (n.*3000A>T) c.*2668A>T (n.*2668A>T) c.*5204A>T (n.*5204A>T) c.*2623A>T (n.*2623A>T) c.4285A>T (p.Asn1429Tyr) n.8112A>T c.4651A>T (p.Asn1551Tyr) c.3928A>T (p.Asn1310Tyr) c.2479A>T (p.Asn827Tyr) | |
2 | g.165386876A>C | CA349036486 | SCN2A | c.4682A>C (p.Asn1561Thr) c.*3001A>C (n.*3001A>C) c.*2669A>C (n.*2669A>C) c.*5205A>C (n.*5205A>C) c.*2624A>C (n.*2624A>C) c.4286A>C (p.Asn1429Thr) n.8113A>C c.4652A>C (p.Asn1551Thr) c.3929A>C (p.Asn1310Thr) c.2480A>C (p.Asn827Thr) | |
2 | g.165386876A>G | CA349036488 | SCN2A | c.4682A>G (p.Asn1561Ser) c.*3001A>G (n.*3001A>G) c.*2669A>G (n.*2669A>G) c.*5205A>G (n.*5205A>G) c.*2624A>G (n.*2624A>G) c.4286A>G (p.Asn1429Ser) n.8113A>G c.4652A>G (p.Asn1551Ser) c.3929A>G (p.Asn1310Ser) c.2480A>G (p.Asn827Ser) | gnomAD v4 |
2 | g.165386876A>T | CA349036489 | SCN2A | c.4682A>T (p.Asn1561Ile) c.*3001A>T (n.*3001A>T) c.*2669A>T (n.*2669A>T) c.*5205A>T (n.*5205A>T) c.*2624A>T (n.*2624A>T) c.4286A>T (p.Asn1429Ile) n.8113A>T c.4652A>T (p.Asn1551Ile) c.3929A>T (p.Asn1310Ile) c.2480A>T (p.Asn827Ile) | |
2 | g.165386877C>A | CA349036491 | SCN2A | c.4683C>A (p.Asn1561Lys) c.*3002C>A (n.*3002C>A) c.*2670C>A (n.*2670C>A) c.*5206C>A (n.*5206C>A) c.*2625C>A (n.*2625C>A) c.4287C>A (p.Asn1429Lys) n.8114C>A c.4653C>A (p.Asn1551Lys) c.3930C>A (p.Asn1310Lys) c.2481C>A (p.Asn827Lys) | dbSNP |
2 | g.165386877C= | CA1304563785 | SCN2A | c.4683C= (p.Asn1561=) c.*3002C= (n.*3002C=) c.*2670C= (n.*2670C=) c.*5206C= (n.*5206C=) c.*2625C= (n.*2625C=) c.4287C= (p.Asn1429=) n.8114C= c.4653C= (p.Asn1551=) c.3930C= (p.Asn1310=) c.2481C= (p.Asn827=) | |
2 | g.165386877C>G | CA349036492 | SCN2A | c.4683C>G (p.Asn1561Lys) c.*3002C>G (n.*3002C>G) c.*2670C>G (n.*2670C>G) c.*5206C>G (n.*5206C>G) c.*2625C>G (n.*2625C>G) c.4287C>G (p.Asn1429Lys) n.8114C>G c.4653C>G (p.Asn1551Lys) c.3930C>G (p.Asn1310Lys) c.2481C>G (p.Asn827Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.165386877C>T | CA429972635 | SCN2A | c.4683C>T (p.Asn1561=) c.*3002C>T (n.*3002C>T) c.*2670C>T (n.*2670C>T) c.*5206C>T (n.*5206C>T) c.*2625C>T (n.*2625C>T) c.4287C>T (p.Asn1429=) n.8114C>T c.4653C>T (p.Asn1551=) c.3930C>T (p.Asn1310=) c.2481C>T (p.Asn827=) | dbSNP gnomAD v4 |
2 | g.165386878A= | CA1304563786 | SCN2A | c.4684A= (p.Ile1562=) c.*3003A= (n.*3003A=) c.*2671A= (n.*2671A=) c.*5207A= (n.*5207A=) c.*2626A= (n.*2626A=) c.4288A= (p.Ile1430=) n.8115A= c.4654A= (p.Ile1552=) c.3931A= (p.Ile1311=) c.2482A= (p.Ile828=) | |
2 | g.165386878A>C | CA349036494 | SCN2A | c.4684A>C (p.Ile1562Leu) c.*3003A>C (n.*3003A>C) c.*2671A>C (n.*2671A>C) c.*5207A>C (n.*5207A>C) c.*2626A>C (n.*2626A>C) c.4288A>C (p.Ile1430Leu) n.8115A>C c.4654A>C (p.Ile1552Leu) c.3931A>C (p.Ile1311Leu) c.2482A>C (p.Ile828Leu) | |
2 | g.165386878A>G | CA1940315 | SCN2A | c.4684A>G (p.Ile1562Val) c.*3003A>G (n.*3003A>G) c.*2671A>G (n.*2671A>G) c.*5207A>G (n.*5207A>G) c.*2626A>G (n.*2626A>G) c.4288A>G (p.Ile1430Val) n.8115A>G c.4654A>G (p.Ile1552Val) c.3931A>G (p.Ile1311Val) c.2482A>G (p.Ile828Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.165386878A>T | CA349036496 | SCN2A | c.4684A>T (p.Ile1562Phe) c.*3003A>T (n.*3003A>T) c.*2671A>T (n.*2671A>T) c.*5207A>T (n.*5207A>T) c.*2626A>T (n.*2626A>T) c.4288A>T (p.Ile1430Phe) n.8115A>T c.4654A>T (p.Ile1552Phe) c.3931A>T (p.Ile1311Phe) c.2482A>T (p.Ile828Phe) | |
2 | g.165386879T>A | CA349036500 | SCN2A | c.4685T>A (p.Ile1562Asn) c.*3004T>A (n.*3004T>A) c.*2672T>A (n.*2672T>A) c.*5208T>A (n.*5208T>A) c.*2627T>A (n.*2627T>A) c.4289T>A (p.Ile1430Asn) n.8116T>A c.4655T>A (p.Ile1552Asn) c.3932T>A (p.Ile1311Asn) c.2483T>A (p.Ile828Asn) | |
2 | g.165386879T>C | CA349036501 | SCN2A | c.4685T>C (p.Ile1562Thr) c.*3004T>C (n.*3004T>C) c.*2672T>C (n.*2672T>C) c.*5208T>C (n.*5208T>C) c.*2627T>C (n.*2627T>C) c.4289T>C (p.Ile1430Thr) n.8116T>C c.4655T>C (p.Ile1552Thr) c.3932T>C (p.Ile1311Thr) c.2483T>C (p.Ile828Thr) | |
2 | g.165386879T>G | CA349036498 | SCN2A | c.4685T>G (p.Ile1562Ser) c.*3004T>G (n.*3004T>G) c.*2672T>G (n.*2672T>G) c.*5208T>G (n.*5208T>G) c.*2627T>G (n.*2627T>G) c.4289T>G (p.Ile1430Ser) n.8116T>G c.4655T>G (p.Ile1552Ser) c.3932T>G (p.Ile1311Ser) c.2483T>G (p.Ile828Ser) | |
2 | g.165386880T>A | CA429972637 | SCN2A | c.4686T>A (p.Ile1562=) c.*3005T>A (n.*3005T>A) c.*2673T>A (n.*2673T>A) c.*5209T>A (n.*5209T>A) c.*2628T>A (n.*2628T>A) c.4290T>A (p.Ile1430=) n.8117T>A c.4656T>A (p.Ile1552=) c.3933T>A (p.Ile1311=) c.2484T>A (p.Ile828=) | ClinVar gnomAD v4 |
2 | g.165386880T>C | CA429972636 | SCN2A | c.4686T>C (p.Ile1562=) c.*3005T>C (n.*3005T>C) c.*2673T>C (n.*2673T>C) c.*5209T>C (n.*5209T>C) c.*2628T>C (n.*2628T>C) c.4290T>C (p.Ile1430=) n.8117T>C c.4656T>C (p.Ile1552=) c.3933T>C (p.Ile1311=) c.2484T>C (p.Ile828=) | gnomAD v4 |
2 | g.165386880T>G | CA349036502 | SCN2A | c.4686T>G (p.Ile1562Met) c.*3005T>G (n.*3005T>G) c.*2673T>G (n.*2673T>G) c.*5209T>G (n.*5209T>G) c.*2628T>G (n.*2628T>G) c.4290T>G (p.Ile1430Met) n.8117T>G c.4656T>G (p.Ile1552Met) c.3933T>G (p.Ile1311Met) c.2484T>G (p.Ile828Met) | |
2 | g.165386881C>A | CA349036504 | SCN2A | c.4687C>A (p.Leu1563Met) c.*3006C>A (n.*3006C>A) c.*2674C>A (n.*2674C>A) c.*5210C>A (n.*5210C>A) c.*2629C>A (n.*2629C>A) c.4291C>A (p.Leu1431Met) n.8118C>A c.4657C>A (p.Leu1553Met) c.3934C>A (p.Leu1312Met) c.2485C>A (p.Leu829Met) | COSMIC COSMIC |
2 | g.165386881C= | CA1304563787 | SCN2A | c.4687C= (p.Leu1563=) c.*3006C= (n.*3006C=) c.*2674C= (n.*2674C=) c.*5210C= (n.*5210C=) c.*2629C= (n.*2629C=) c.4291C= (p.Leu1431=) n.8118C= c.4657C= (p.Leu1553=) c.3934C= (p.Leu1312=) c.2485C= (p.Leu829=) | |
2 | g.165386881C>G | CA122769 | SCN2A | c.4687C>G (p.Leu1563Val) c.*3006C>G (n.*3006C>G) c.*2674C>G (n.*2674C>G) c.*5210C>G (n.*5210C>G) c.*2629C>G (n.*2629C>G) c.4291C>G (p.Leu1431Val) n.8118C>G c.4657C>G (p.Leu1553Val) c.3934C>G (p.Leu1312Val) c.2485C>G (p.Leu829Val) | ClinVar dbSNP |
2 | g.165386881C>T | CA429972638 | SCN2A | c.4687C>T (p.Leu1563=) c.*3006C>T (n.*3006C>T) c.*2674C>T (n.*2674C>T) c.*5210C>T (n.*5210C>T) c.*2629C>T (n.*2629C>T) c.4291C>T (p.Leu1431=) n.8118C>T c.4657C>T (p.Leu1553=) c.3934C>T (p.Leu1312=) c.2485C>T (p.Leu829=) | |
2 | g.165386882T>A | CA349036506 | SCN2A | c.4688T>A (p.Leu1563Gln) c.*3007T>A (n.*3007T>A) c.*2675T>A (n.*2675T>A) c.*5211T>A (n.*5211T>A) c.*2630T>A (n.*2630T>A) c.4292T>A (p.Leu1431Gln) n.8119T>A c.4658T>A (p.Leu1553Gln) c.3935T>A (p.Leu1312Gln) c.2486T>A (p.Leu829Gln) | |
2 | g.165386882T>C | CA349036508 | SCN2A | c.4688T>C (p.Leu1563Pro) c.*3007T>C (n.*3007T>C) c.*2675T>C (n.*2675T>C) c.*5211T>C (n.*5211T>C) c.*2630T>C (n.*2630T>C) c.4292T>C (p.Leu1431Pro) n.8119T>C c.4658T>C (p.Leu1553Pro) c.3935T>C (p.Leu1312Pro) c.2486T>C (p.Leu829Pro) | |
2 | g.165386882T>G | CA349036509 | SCN2A | c.4688T>G (p.Leu1563Arg) c.*3007T>G (n.*3007T>G) c.*2675T>G (n.*2675T>G) c.*5211T>G (n.*5211T>G) c.*2630T>G (n.*2630T>G) c.4292T>G (p.Leu1431Arg) n.8119T>G c.4658T>G (p.Leu1553Arg) c.3935T>G (p.Leu1312Arg) c.2486T>G (p.Leu829Arg) | ClinVar dbSNP |
2 | g.165386882T= | CA1304563788 | SCN2A | c.4688T= (p.Leu1563=) c.*3007T= (n.*3007T=) c.*2675T= (n.*2675T=) c.*5211T= (n.*5211T=) c.*2630T= (n.*2630T=) c.4292T= (p.Leu1431=) n.8119T= c.4658T= (p.Leu1553=) c.3935T= (p.Leu1312=) c.2486T= (p.Leu829=) | |
2 | g.165386883G>A | CA429972352 | SCN2A | c.4689G>A (p.Leu1563=) c.*3008G>A (n.*3008G>A) c.*2676G>A (n.*2676G>A) c.*5212G>A (n.*5212G>A) c.*2631G>A (n.*2631G>A) c.4293G>A (p.Leu1431=) n.8120G>A c.4659G>A (p.Leu1553=) c.3936G>A (p.Leu1312=) c.2487G>A (p.Leu829=) | |
2 | g.165386883G>C | CA429972354 | SCN2A | c.4689G>C (p.Leu1563=) c.*3008G>C (n.*3008G>C) c.*2676G>C (n.*2676G>C) c.*5212G>C (n.*5212G>C) c.*2631G>C (n.*2631G>C) c.4293G>C (p.Leu1431=) n.8120G>C c.4659G>C (p.Leu1553=) c.3936G>C (p.Leu1312=) c.2487G>C (p.Leu829=) | |
2 | g.165386883G>T | CA429972355 | SCN2A | c.4689G>T (p.Leu1563=) c.*3008G>T (n.*3008G>T) c.*2676G>T (n.*2676G>T) c.*5212G>T (n.*5212G>T) c.*2631G>T (n.*2631G>T) c.4293G>T (p.Leu1431=) n.8120G>T c.4659G>T (p.Leu1553=) c.3936G>T (p.Leu1312=) c.2487G>T (p.Leu829=) | gnomAD v4 |
2 | g.165386884T>A | CA349036511 | SCN2A | c.4690T>A (p.Tyr1564Asn) c.*3009T>A (n.*3009T>A) c.*2677T>A (n.*2677T>A) c.*5213T>A (n.*5213T>A) c.*2632T>A (n.*2632T>A) c.4294T>A (p.Tyr1432Asn) n.8121T>A c.4660T>A (p.Tyr1554Asn) c.3937T>A (p.Tyr1313Asn) c.2488T>A (p.Tyr830Asn) | |
2 | g.165386884T>C | CA349036513 | SCN2A | c.4690T>C (p.Tyr1564His) c.*3009T>C (n.*3009T>C) c.*2677T>C (n.*2677T>C) c.*5213T>C (n.*5213T>C) c.*2632T>C (n.*2632T>C) c.4294T>C (p.Tyr1432His) n.8121T>C c.4660T>C (p.Tyr1554His) c.3937T>C (p.Tyr1313His) c.2488T>C (p.Tyr830His) | |
2 | g.165386884T>G | CA349036514 | SCN2A | c.4690T>G (p.Tyr1564Asp) c.*3009T>G (n.*3009T>G) c.*2677T>G (n.*2677T>G) c.*5213T>G (n.*5213T>G) c.*2632T>G (n.*2632T>G) c.4294T>G (p.Tyr1432Asp) n.8121T>G c.4660T>G (p.Tyr1554Asp) c.3937T>G (p.Tyr1313Asp) c.2488T>G (p.Tyr830Asp) | |
2 | g.165386884_165386886delinsTAC | CA1304563789 | SCN2A | c.4690_4692delinsTAC (p.Tyr1564=) c.*3009_*3011delinsTAC (n.*3009_*3011delinsTAC) c.*2677_*2679delinsTAC (n.*2677_*2679delinsTAC) c.*5213_*5215delinsTAC (n.*5213_*5215delinsTAC) c.*2632_*2634delinsTAC (n.*2632_*2634delinsTAC) c.4294_4296delinsTAC (p.Tyr1432=) n.8121_8123delinsTAC c.4660_4662delinsTAC (p.Tyr1554=) c.3937_3939delinsTAC (p.Tyr1313=) c.2488_2490delinsTAC (p.Tyr830=) | |
2 | g.165386885A= | CA1304563790 | SCN2A | c.4691A= (p.Tyr1564=) c.*3010A= (n.*3010A=) c.*2678A= (n.*2678A=) c.*5214A= (n.*5214A=) c.*2633A= (n.*2633A=) c.4295A= (p.Tyr1432=) n.8122A= c.4661A= (p.Tyr1554=) c.3938A= (p.Tyr1313=) c.2489A= (p.Tyr830=) | |
2 | g.165386885A>C | CA349036516 | SCN2A | c.4691A>C (p.Tyr1564Ser) c.*3010A>C (n.*3010A>C) c.*2678A>C (n.*2678A>C) c.*5214A>C (n.*5214A>C) c.*2633A>C (n.*2633A>C) c.4295A>C (p.Tyr1432Ser) n.8122A>C c.4661A>C (p.Tyr1554Ser) c.3938A>C (p.Tyr1313Ser) c.2489A>C (p.Tyr830Ser) | |
2 | g.165386885A>G | CA349036517 | SCN2A | c.4691A>G (p.Tyr1564Cys) c.*3010A>G (n.*3010A>G) c.*2678A>G (n.*2678A>G) c.*5214A>G (n.*5214A>G) c.*2633A>G (n.*2633A>G) c.4295A>G (p.Tyr1432Cys) n.8122A>G c.4661A>G (p.Tyr1554Cys) c.3938A>G (p.Tyr1313Cys) c.2489A>G (p.Tyr830Cys) | dbSNP |
2 | g.165386885A>T | CA349036518 | SCN2A | c.4691A>T (p.Tyr1564Phe) c.*3010A>T (n.*3010A>T) c.*2678A>T (n.*2678A>T) c.*5214A>T (n.*5214A>T) c.*2633A>T (n.*2633A>T) c.4295A>T (p.Tyr1432Phe) n.8122A>T c.4661A>T (p.Tyr1554Phe) c.3938A>T (p.Tyr1313Phe) c.2489A>T (p.Tyr830Phe) | |
2 | g.165386885_165386886del | CA658795941 | SCN2A | c.4691_4692del (p.Tyr1564LeufsTer3) c.*3010_*3011del (n.*3010_*3011del) c.*2678_*2679del (n.*2678_*2679del) c.*5214_*5215del (n.*5214_*5215del) c.*2633_*2634del (n.*2633_*2634del) c.4295_4296del (p.Tyr1432LeufsTer3) n.8122_8123del c.4661_4662del (p.Tyr1554LeufsTer3) c.3938_3939del (p.Tyr1313LeufsTer3) c.2489_2490del (p.Tyr830LeufsTer3) | ClinVar dbSNP |
2 | g.165386886C>A | CA349036520 | SCN2A | c.4692C>A (p.Tyr1564Ter) c.*3011C>A (n.*3011C>A) c.*2679C>A (n.*2679C>A) c.*5215C>A (n.*5215C>A) c.*2634C>A (n.*2634C>A) c.4296C>A (p.Tyr1432Ter) n.8123C>A c.4662C>A (p.Tyr1554Ter) c.3939C>A (p.Tyr1313Ter) c.2490C>A (p.Tyr830Ter) | |
2 | g.165386886C>G | CA349036522 | SCN2A | c.4692C>G (p.Tyr1564Ter) c.*3011C>G (n.*3011C>G) c.*2679C>G (n.*2679C>G) c.*5215C>G (n.*5215C>G) c.*2634C>G (n.*2634C>G) c.4296C>G (p.Tyr1432Ter) n.8123C>G c.4662C>G (p.Tyr1554Ter) c.3939C>G (p.Tyr1313Ter) c.2490C>G (p.Tyr830Ter) | |
2 | g.165386886C>T | CA429972366 | SCN2A | c.4692C>T (p.Tyr1564=) c.*3011C>T (n.*3011C>T) c.*2679C>T (n.*2679C>T) c.*5215C>T (n.*5215C>T) c.*2634C>T (n.*2634C>T) c.4296C>T (p.Tyr1432=) n.8123C>T c.4662C>T (p.Tyr1554=) c.3939C>T (p.Tyr1313=) c.2490C>T (p.Tyr830=) | |
2 | g.165386887T>A | CA349036526 | SCN2A | c.4693T>A (p.Trp1565Arg) c.*3012T>A (n.*3012T>A) c.*2680T>A (n.*2680T>A) c.*5216T>A (n.*5216T>A) c.*2635T>A (n.*2635T>A) c.4297T>A (p.Trp1433Arg) n.8124T>A c.4663T>A (p.Trp1555Arg) c.3940T>A (p.Trp1314Arg) c.2491T>A (p.Trp831Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.165386887T>C | CA349036523 | SCN2A | c.4693T>C (p.Trp1565Arg) c.*3012T>C (n.*3012T>C) c.*2680T>C (n.*2680T>C) c.*5216T>C (n.*5216T>C) c.*2635T>C (n.*2635T>C) c.4297T>C (p.Trp1433Arg) n.8124T>C c.4663T>C (p.Trp1555Arg) c.3940T>C (p.Trp1314Arg) c.2491T>C (p.Trp831Arg) | gnomAD v4 |
2 | g.165386887T>G | CA349036524 | SCN2A | c.4693T>G (p.Trp1565Gly) c.*3012T>G (n.*3012T>G) c.*2680T>G (n.*2680T>G) c.*5216T>G (n.*5216T>G) c.*2635T>G (n.*2635T>G) c.4297T>G (p.Trp1433Gly) n.8124T>G c.4663T>G (p.Trp1555Gly) c.3940T>G (p.Trp1314Gly) c.2491T>G (p.Trp831Gly) | |
2 | g.165386887T= | CA1304563791 | SCN2A | c.4693T= (p.Trp1565=) c.*3012T= (n.*3012T=) c.*2680T= (n.*2680T=) c.*5216T= (n.*5216T=) c.*2635T= (n.*2635T=) c.4297T= (p.Trp1433=) n.8124T= c.4663T= (p.Trp1555=) c.3940T= (p.Trp1314=) c.2491T= (p.Trp831=) | |
2 | g.165386888G>A | CA349036528 | SCN2A | c.4694G>A (p.Trp1565Ter) c.*3013G>A (n.*3013G>A) c.*2681G>A (n.*2681G>A) c.*5217G>A (n.*5217G>A) c.*2636G>A (n.*2636G>A) c.4298G>A (p.Trp1433Ter) n.8125G>A c.4664G>A (p.Trp1555Ter) c.3941G>A (p.Trp1314Ter) c.2492G>A (p.Trp831Ter) | dbSNP |
2 | g.165386888G>C | CA349036530 | SCN2A | c.4694G>C (p.Trp1565Ser) c.*3013G>C (n.*3013G>C) c.*2681G>C (n.*2681G>C) c.*5217G>C (n.*5217G>C) c.*2636G>C (n.*2636G>C) c.4298G>C (p.Trp1433Ser) n.8125G>C c.4664G>C (p.Trp1555Ser) c.3941G>C (p.Trp1314Ser) c.2492G>C (p.Trp831Ser) | |
2 | g.165386888G= | CA1304563792 | SCN2A | c.4694G= (p.Trp1565=) c.*3013G= (n.*3013G=) c.*2681G= (n.*2681G=) c.*5217G= (n.*5217G=) c.*2636G= (n.*2636G=) c.4298G= (p.Trp1433=) n.8125G= c.4664G= (p.Trp1555=) c.3941G= (p.Trp1314=) c.2492G= (p.Trp831=) | |
2 | g.165386888G>T | CA349036531 | SCN2A | c.4694G>T (p.Trp1565Leu) c.*3013G>T (n.*3013G>T) c.*2681G>T (n.*2681G>T) c.*5217G>T (n.*5217G>T) c.*2636G>T (n.*2636G>T) c.4298G>T (p.Trp1433Leu) n.8125G>T c.4664G>T (p.Trp1555Leu) c.3941G>T (p.Trp1314Leu) c.2492G>T (p.Trp831Leu) | COSMIC COSMIC |
2 | g.165386889G>A | CA349036532 | SCN2A | c.4695G>A (p.Trp1565Ter) c.*3014G>A (n.*3014G>A) c.*2682G>A (n.*2682G>A) c.*5218G>A (n.*5218G>A) c.*2637G>A (n.*2637G>A) c.4299G>A (p.Trp1433Ter) n.8126G>A c.4665G>A (p.Trp1555Ter) c.3942G>A (p.Trp1314Ter) c.2493G>A (p.Trp831Ter) | dbSNP |
2 | g.165386889G>C | CA349036534 | SCN2A | c.4695G>C (p.Trp1565Cys) c.*3014G>C (n.*3014G>C) c.*2682G>C (n.*2682G>C) c.*5218G>C (n.*5218G>C) c.*2637G>C (n.*2637G>C) c.4299G>C (p.Trp1433Cys) n.8126G>C c.4665G>C (p.Trp1555Cys) c.3942G>C (p.Trp1314Cys) c.2493G>C (p.Trp831Cys) | |
2 | g.165386889G= | CA1304563793 | SCN2A | c.4695G= (p.Trp1565=) c.*3014G= (n.*3014G=) c.*2682G= (n.*2682G=) c.*5218G= (n.*5218G=) c.*2637G= (n.*2637G=) c.4299G= (p.Trp1433=) n.8126G= c.4665G= (p.Trp1555=) c.3942G= (p.Trp1314=) c.2493G= (p.Trp831=) | |
2 | g.165386889G>T | CA349036535 | SCN2A | c.4695G>T (p.Trp1565Cys) c.*3014G>T (n.*3014G>T) c.*2682G>T (n.*2682G>T) c.*5218G>T (n.*5218G>T) c.*2637G>T (n.*2637G>T) c.4299G>T (p.Trp1433Cys) n.8126G>T c.4665G>T (p.Trp1555Cys) c.3942G>T (p.Trp1314Cys) c.2493G>T (p.Trp831Cys) | |
2 | g.165386890A= | CA1304563794 | SCN2A | c.4696A= (p.Ile1566=) c.*3015A= (n.*3015A=) c.*2683A= (n.*2683A=) c.*5219A= (n.*5219A=) c.*2638A= (n.*2638A=) c.4300A= (p.Ile1434=) n.8127A= c.4666A= (p.Ile1556=) c.3943A= (p.Ile1315=) c.2494A= (p.Ile832=) | |
2 | g.165386890A>C | CA349036537 | SCN2A | c.4696A>C (p.Ile1566Leu) c.*3015A>C (n.*3015A>C) c.*2683A>C (n.*2683A>C) c.*5219A>C (n.*5219A>C) c.*2638A>C (n.*2638A>C) c.4300A>C (p.Ile1434Leu) n.8127A>C c.4666A>C (p.Ile1556Leu) c.3943A>C (p.Ile1315Leu) c.2494A>C (p.Ile832Leu) | |
2 | g.165386890A>G | CA349036539 | SCN2A | c.4696A>G (p.Ile1566Val) c.*3015A>G (n.*3015A>G) c.*2683A>G (n.*2683A>G) c.*5219A>G (n.*5219A>G) c.*2638A>G (n.*2638A>G) c.4300A>G (p.Ile1434Val) n.8127A>G c.4666A>G (p.Ile1556Val) c.3943A>G (p.Ile1315Val) c.2494A>G (p.Ile832Val) | |
2 | g.165386890A>T | CA349036540 | SCN2A | c.4696A>T (p.Ile1566Phe) c.*3015A>T (n.*3015A>T) c.*2683A>T (n.*2683A>T) c.*5219A>T (n.*5219A>T) c.*2638A>T (n.*2638A>T) c.4300A>T (p.Ile1434Phe) n.8127A>T c.4666A>T (p.Ile1556Phe) c.3943A>T (p.Ile1315Phe) c.2494A>T (p.Ile832Phe) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.165386891T>A | CA349036542 | SCN2A | c.4697T>A (p.Ile1566Asn) c.*3016T>A (n.*3016T>A) c.*2684T>A (n.*2684T>A) c.*5220T>A (n.*5220T>A) c.*2639T>A (n.*2639T>A) c.4301T>A (p.Ile1434Asn) n.8128T>A c.4667T>A (p.Ile1556Asn) c.3944T>A (p.Ile1315Asn) c.2495T>A (p.Ile832Asn) | |
2 | g.165386891T>C | CA349036544 | SCN2A | c.4697T>C (p.Ile1566Thr) c.*3016T>C (n.*3016T>C) c.*2684T>C (n.*2684T>C) c.*5220T>C (n.*5220T>C) c.*2639T>C (n.*2639T>C) c.4301T>C (p.Ile1434Thr) n.8128T>C c.4667T>C (p.Ile1556Thr) c.3944T>C (p.Ile1315Thr) c.2495T>C (p.Ile832Thr) | |
2 | g.165386891T>G | CA349036545 | SCN2A | c.4697T>G (p.Ile1566Ser) c.*3016T>G (n.*3016T>G) c.*2684T>G (n.*2684T>G) c.*5220T>G (n.*5220T>G) c.*2639T>G (n.*2639T>G) c.4301T>G (p.Ile1434Ser) n.8128T>G c.4667T>G (p.Ile1556Ser) c.3944T>G (p.Ile1315Ser) c.2495T>G (p.Ile832Ser) | |
2 | g.165386892T>A | CA429972380 | SCN2A | c.4698T>A (p.Ile1566=) c.*3017T>A (n.*3017T>A) c.*2685T>A (n.*2685T>A) c.*5221T>A (n.*5221T>A) c.*2640T>A (n.*2640T>A) c.4302T>A (p.Ile1434=) n.8129T>A c.4668T>A (p.Ile1556=) c.3945T>A (p.Ile1315=) c.2496T>A (p.Ile832=) | |
2 | g.165386892T>C | CA429972377 | SCN2A | c.4698T>C (p.Ile1566=) c.*3017T>C (n.*3017T>C) c.*2685T>C (n.*2685T>C) c.*5221T>C (n.*5221T>C) c.*2640T>C (n.*2640T>C) c.4302T>C (p.Ile1434=) n.8129T>C c.4668T>C (p.Ile1556=) c.3945T>C (p.Ile1315=) c.2496T>C (p.Ile832=) | |
2 | g.165386892T>G | CA349036547 | SCN2A | c.4698T>G (p.Ile1566Met) c.*3017T>G (n.*3017T>G) c.*2685T>G (n.*2685T>G) c.*5221T>G (n.*5221T>G) c.*2640T>G (n.*2640T>G) c.4302T>G (p.Ile1434Met) n.8129T>G c.4668T>G (p.Ile1556Met) c.3945T>G (p.Ile1315Met) c.2496T>G (p.Ile832Met) | |
2 | g.165386893A>C | CA349036552 | SCN2A | c.4699A>C (p.Asn1567His) c.*3018A>C (n.*3018A>C) c.*2686A>C (n.*2686A>C) c.*5222A>C (n.*5222A>C) c.*2641A>C (n.*2641A>C) c.4303A>C (p.Asn1435His) n.8130A>C c.4669A>C (p.Asn1557His) c.3946A>C (p.Asn1316His) c.2497A>C (p.Asn833His) | |
2 | g.165386893A>G | CA349036549 | SCN2A | c.4699A>G (p.Asn1567Asp) c.*3018A>G (n.*3018A>G) c.*2686A>G (n.*2686A>G) c.*5222A>G (n.*5222A>G) c.*2641A>G (n.*2641A>G) c.4303A>G (p.Asn1435Asp) n.8130A>G c.4669A>G (p.Asn1557Asp) c.3946A>G (p.Asn1316Asp) c.2497A>G (p.Asn833Asp) | COSMIC COSMIC |
2 | g.165386893A>T | CA349036550 | SCN2A | c.4699A>T (p.Asn1567Tyr) c.*3018A>T (n.*3018A>T) c.*2686A>T (n.*2686A>T) c.*5222A>T (n.*5222A>T) c.*2641A>T (n.*2641A>T) c.4303A>T (p.Asn1435Tyr) n.8130A>T c.4669A>T (p.Asn1557Tyr) c.3946A>T (p.Asn1316Tyr) c.2497A>T (p.Asn833Tyr) | |
2 | g.165386894A>C | CA349036553 | SCN2A | c.4700A>C (p.Asn1567Thr) c.*3019A>C (n.*3019A>C) c.*2687A>C (n.*2687A>C) c.*5223A>C (n.*5223A>C) c.*2642A>C (n.*2642A>C) c.4304A>C (p.Asn1435Thr) n.8131A>C c.4670A>C (p.Asn1557Thr) c.3947A>C (p.Asn1316Thr) c.2498A>C (p.Asn833Thr) | |
2 | g.165386894A>G | CA349036554 | SCN2A | c.4700A>G (p.Asn1567Ser) c.*3019A>G (n.*3019A>G) c.*2687A>G (n.*2687A>G) c.*5223A>G (n.*5223A>G) c.*2642A>G (n.*2642A>G) c.4304A>G (p.Asn1435Ser) n.8131A>G c.4670A>G (p.Asn1557Ser) c.3947A>G (p.Asn1316Ser) c.2498A>G (p.Asn833Ser) | |
2 | g.165386894A>T | CA349036556 | SCN2A | c.4700A>T (p.Asn1567Ile) c.*3019A>T (n.*3019A>T) c.*2687A>T (n.*2687A>T) c.*5223A>T (n.*5223A>T) c.*2642A>T (n.*2642A>T) c.4304A>T (p.Asn1435Ile) n.8131A>T c.4670A>T (p.Asn1557Ile) c.3947A>T (p.Asn1316Ile) c.2498A>T (p.Asn833Ile) | |
2 | g.165386895T>A | CA318000 | SCN2A | c.4701T>A (p.Asn1567Lys) c.*3020T>A (n.*3020T>A) c.*2688T>A (n.*2688T>A) c.*5224T>A (n.*5224T>A) c.*2643T>A (n.*2643T>A) c.4305T>A (p.Asn1435Lys) n.8132T>A c.4671T>A (p.Asn1557Lys) c.3948T>A (p.Asn1316Lys) c.2499T>A (p.Asn833Lys) | ClinVar dbSNP |
2 | g.165386895T>C | CA429972387 | SCN2A | c.4701T>C (p.Asn1567=) c.*3020T>C (n.*3020T>C) c.*2688T>C (n.*2688T>C) c.*5224T>C (n.*5224T>C) c.*2643T>C (n.*2643T>C) c.4305T>C (p.Asn1435=) n.8132T>C c.4671T>C (p.Asn1557=) c.3948T>C (p.Asn1316=) c.2499T>C (p.Asn833=) | gnomAD v4 |
2 | g.165386895T>G | CA349036558 | SCN2A | c.4701T>G (p.Asn1567Lys) c.*3020T>G (n.*3020T>G) c.*2688T>G (n.*2688T>G) c.*5224T>G (n.*5224T>G) c.*2643T>G (n.*2643T>G) c.4305T>G (p.Asn1435Lys) n.8132T>G c.4671T>G (p.Asn1557Lys) c.3948T>G (p.Asn1316Lys) c.2499T>G (p.Asn833Lys) | |
2 | g.165386895T= | CA1304563795 | SCN2A | c.4701T= (p.Asn1567=) c.*3020T= (n.*3020T=) c.*2688T= (n.*2688T=) c.*5224T= (n.*5224T=) c.*2643T= (n.*2643T=) c.4305T= (p.Asn1435=) n.8132T= c.4671T= (p.Asn1557=) c.3948T= (p.Asn1316=) c.2499T= (p.Asn833=) | |
2 | g.165386896C>A | CA349036559 | SCN2A | c.4702C>A (p.Leu1568Met) c.*3021C>A (n.*3021C>A) c.*2689C>A (n.*2689C>A) c.*5225C>A (n.*5225C>A) c.*2644C>A (n.*2644C>A) c.4306C>A (p.Leu1436Met) n.8133C>A c.4672C>A (p.Leu1558Met) c.3949C>A (p.Leu1317Met) c.2500C>A (p.Leu834Met) | gnomAD v4 |
2 | g.165386896C= | CA1304563796 | SCN2A | c.4702C= (p.Leu1568=) c.*3021C= (n.*3021C=) c.*2689C= (n.*2689C=) c.*5225C= (n.*5225C=) c.*2644C= (n.*2644C=) c.4306C= (p.Leu1436=) n.8133C= c.4672C= (p.Leu1558=) c.3949C= (p.Leu1317=) c.2500C= (p.Leu834=) | |
2 | g.165386896C>G | CA349036561 | SCN2A | c.4702C>G (p.Leu1568Val) c.*3021C>G (n.*3021C>G) c.*2689C>G (n.*2689C>G) c.*5225C>G (n.*5225C>G) c.*2644C>G (n.*2644C>G) c.4306C>G (p.Leu1436Val) n.8133C>G c.4672C>G (p.Leu1558Val) c.3949C>G (p.Leu1317Val) c.2500C>G (p.Leu834Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.165386896C>T | CA429972389 | SCN2A | c.4702C>T (p.Leu1568=) c.*3021C>T (n.*3021C>T) c.*2689C>T (n.*2689C>T) c.*5225C>T (n.*5225C>T) c.*2644C>T (n.*2644C>T) c.4306C>T (p.Leu1436=) n.8133C>T c.4672C>T (p.Leu1558=) c.3949C>T (p.Leu1317=) c.2500C>T (p.Leu834=) | dbSNP |
2 | g.165386897T>A | CA349036563 | SCN2A | c.4703T>A (p.Leu1568Gln) c.*3022T>A (n.*3022T>A) c.*2690T>A (n.*2690T>A) c.*5226T>A (n.*5226T>A) c.*2645T>A (n.*2645T>A) c.4307T>A (p.Leu1436Gln) n.8134T>A c.4673T>A (p.Leu1558Gln) c.3950T>A (p.Leu1317Gln) c.2501T>A (p.Leu834Gln) | |
2 | g.165386897T>C | CA349036564 | SCN2A | c.4703T>C (p.Leu1568Pro) c.*3022T>C (n.*3022T>C) c.*2690T>C (n.*2690T>C) c.*5226T>C (n.*5226T>C) c.*2645T>C (n.*2645T>C) c.4307T>C (p.Leu1436Pro) n.8134T>C c.4673T>C (p.Leu1558Pro) c.3950T>C (p.Leu1317Pro) c.2501T>C (p.Leu834Pro) | |
2 | g.165386897T>G | CA349036566 | SCN2A | c.4703T>G (p.Leu1568Arg) c.*3022T>G (n.*3022T>G) c.*2690T>G (n.*2690T>G) c.*5226T>G (n.*5226T>G) c.*2645T>G (n.*2645T>G) c.4307T>G (p.Leu1436Arg) n.8134T>G c.4673T>G (p.Leu1558Arg) c.3950T>G (p.Leu1317Arg) c.2501T>G (p.Leu834Arg) | |
2 | g.165386898G>A | CA429972390 | SCN2A | c.4704G>A (p.Leu1568=) c.*3023G>A (n.*3023G>A) c.*2691G>A (n.*2691G>A) c.*5227G>A (n.*5227G>A) c.*2646G>A (n.*2646G>A) c.4308G>A (p.Leu1436=) n.8135G>A c.4674G>A (p.Leu1558=) c.3951G>A (p.Leu1317=) c.2502G>A (p.Leu834=) | |
2 | g.165386898G>C | CA429972391 | SCN2A | c.4704G>C (p.Leu1568=) c.*3023G>C (n.*3023G>C) c.*2691G>C (n.*2691G>C) c.*5227G>C (n.*5227G>C) c.*2646G>C (n.*2646G>C) c.4308G>C (p.Leu1436=) n.8135G>C c.4674G>C (p.Leu1558=) c.3951G>C (p.Leu1317=) c.2502G>C (p.Leu834=) | |
2 | g.165386898G>T | CA429972392 | SCN2A | c.4704G>T (p.Leu1568=) c.*3023G>T (n.*3023G>T) c.*2691G>T (n.*2691G>T) c.*5227G>T (n.*5227G>T) c.*2646G>T (n.*2646G>T) c.4308G>T (p.Leu1436=) n.8135G>T c.4674G>T (p.Leu1558=) c.3951G>T (p.Leu1317=) c.2502G>T (p.Leu834=) | |
2 | g.165386899G>A | CA349036569 | SCN2A | c.4705G>A (p.Val1569Met) c.*3024G>A (n.*3024G>A) c.*2692G>A (n.*2692G>A) c.*5228G>A (n.*5228G>A) c.*2647G>A (n.*2647G>A) c.4309G>A (p.Val1437Met) n.8136G>A c.4675G>A (p.Val1559Met) c.3952G>A (p.Val1318Met) c.2503G>A (p.Val835Met) | ClinVar |
2 | g.165386899G>C | CA349036570 | SCN2A | c.4705G>C (p.Val1569Leu) c.*3024G>C (n.*3024G>C) c.*2692G>C (n.*2692G>C) c.*5228G>C (n.*5228G>C) c.*2647G>C (n.*2647G>C) c.4309G>C (p.Val1437Leu) n.8136G>C c.4675G>C (p.Val1559Leu) c.3952G>C (p.Val1318Leu) c.2503G>C (p.Val835Leu) | gnomAD v4 |
2 | g.165386899G>T | CA349036568 | SCN2A | c.4705G>T (p.Val1569Leu) c.*3024G>T (n.*3024G>T) c.*2692G>T (n.*2692G>T) c.*5228G>T (n.*5228G>T) c.*2647G>T (n.*2647G>T) c.4309G>T (p.Val1437Leu) n.8136G>T c.4675G>T (p.Val1559Leu) c.3952G>T (p.Val1318Leu) c.2503G>T (p.Val835Leu) | gnomAD v4 |
2 | g.165386900T>A | CA349036572 | SCN2A | c.4706T>A (p.Val1569Glu) c.*3025T>A (n.*3025T>A) c.*2693T>A (n.*2693T>A) c.*5229T>A (n.*5229T>A) c.*2648T>A (n.*2648T>A) c.4310T>A (p.Val1437Glu) n.8137T>A c.4676T>A (p.Val1559Glu) c.3953T>A (p.Val1318Glu) c.2504T>A (p.Val835Glu) | dbSNP |
2 | g.165386900T>C | CA349036573 | SCN2A | c.4706T>C (p.Val1569Ala) c.*3025T>C (n.*3025T>C) c.*2693T>C (n.*2693T>C) c.*5229T>C (n.*5229T>C) c.*2648T>C (n.*2648T>C) c.4310T>C (p.Val1437Ala) n.8137T>C c.4676T>C (p.Val1559Ala) c.3953T>C (p.Val1318Ala) c.2504T>C (p.Val835Ala) | |
2 | g.165386900T>G | CA349036575 | SCN2A | c.4706T>G (p.Val1569Gly) c.*3025T>G (n.*3025T>G) c.*2693T>G (n.*2693T>G) c.*5229T>G (n.*5229T>G) c.*2648T>G (n.*2648T>G) c.4310T>G (p.Val1437Gly) n.8137T>G c.4676T>G (p.Val1559Gly) c.3953T>G (p.Val1318Gly) c.2504T>G (p.Val835Gly) | |
2 | g.165386900T= | CA1304563797 | SCN2A | c.4706T= (p.Val1569=) c.*3025T= (n.*3025T=) c.*2693T= (n.*2693T=) c.*5229T= (n.*5229T=) c.*2648T= (n.*2648T=) c.4310T= (p.Val1437=) n.8137T= c.4676T= (p.Val1559=) c.3953T= (p.Val1318=) c.2504T= (p.Val835=) | |
2 | g.165386901G>A | CA429972395 | SCN2A | c.4707G>A (p.Val1569=) c.*3026G>A (n.*3026G>A) c.*2694G>A (n.*2694G>A) c.*5230G>A (n.*5230G>A) c.*2649G>A (n.*2649G>A) c.4311G>A (p.Val1437=) n.8138G>A c.4677G>A (p.Val1559=) c.3954G>A (p.Val1318=) c.2505G>A (p.Val835=) | |
2 | g.165386901G>C | CA429972396 | SCN2A | c.4707G>C (p.Val1569=) c.*3026G>C (n.*3026G>C) c.*2694G>C (n.*2694G>C) c.*5230G>C (n.*5230G>C) c.*2649G>C (n.*2649G>C) c.4311G>C (p.Val1437=) n.8138G>C c.4677G>C (p.Val1559=) c.3954G>C (p.Val1318=) c.2505G>C (p.Val835=) | |
2 | g.165386901G>T | CA429972397 | SCN2A | c.4707G>T (p.Val1569=) c.*3026G>T (n.*3026G>T) c.*2694G>T (n.*2694G>T) c.*5230G>T (n.*5230G>T) c.*2649G>T (n.*2649G>T) c.4311G>T (p.Val1437=) n.8138G>T c.4677G>T (p.Val1559=) c.3954G>T (p.Val1318=) c.2505G>T (p.Val835=) | |
2 | g.165386902T>A | CA349036576 | SCN2A | c.4708T>A (p.Phe1570Ile) c.*3027T>A (n.*3027T>A) c.*2695T>A (n.*2695T>A) c.*5231T>A (n.*5231T>A) c.*2650T>A (n.*2650T>A) c.4312T>A (p.Phe1438Ile) n.8139T>A c.4678T>A (p.Phe1560Ile) c.3955T>A (p.Phe1319Ile) c.2506T>A (p.Phe836Ile) | |
2 | g.165386902T>C | CA349036578 | SCN2A | c.4708T>C (p.Phe1570Leu) c.*3027T>C (n.*3027T>C) c.*2695T>C (n.*2695T>C) c.*5231T>C (n.*5231T>C) c.*2650T>C (n.*2650T>C) c.4312T>C (p.Phe1438Leu) n.8139T>C c.4678T>C (p.Phe1560Leu) c.3955T>C (p.Phe1319Leu) c.2506T>C (p.Phe836Leu) | |
2 | g.165386902T>G | CA349036579 | SCN2A | c.4708T>G (p.Phe1570Val) c.*3027T>G (n.*3027T>G) c.*2695T>G (n.*2695T>G) c.*5231T>G (n.*5231T>G) c.*2650T>G (n.*2650T>G) c.4312T>G (p.Phe1438Val) n.8139T>G c.4678T>G (p.Phe1560Val) c.3955T>G (p.Phe1319Val) c.2506T>G (p.Phe836Val) | |
2 | g.165386903T>A | CA349036581 | SCN2A | c.4709T>A (p.Phe1570Tyr) c.*3028T>A (n.*3028T>A) c.*2696T>A (n.*2696T>A) c.*5232T>A (n.*5232T>A) c.*2651T>A (n.*2651T>A) c.4313T>A (p.Phe1438Tyr) n.8140T>A c.4679T>A (p.Phe1560Tyr) c.3956T>A (p.Phe1319Tyr) c.2507T>A (p.Phe836Tyr) | |
2 | g.165386903T>C | CA349036584 | SCN2A | c.4709T>C (p.Phe1570Ser) c.*3028T>C (n.*3028T>C) c.*2696T>C (n.*2696T>C) c.*5232T>C (n.*5232T>C) c.*2651T>C (n.*2651T>C) c.4313T>C (p.Phe1438Ser) n.8140T>C c.4679T>C (p.Phe1560Ser) c.3956T>C (p.Phe1319Ser) c.2507T>C (p.Phe836Ser) | |
2 | g.165386903T>G | CA349036582 | SCN2A | c.4709T>G (p.Phe1570Cys) c.*3028T>G (n.*3028T>G) c.*2696T>G (n.*2696T>G) c.*5232T>G (n.*5232T>G) c.*2651T>G (n.*2651T>G) c.4313T>G (p.Phe1438Cys) n.8140T>G c.4679T>G (p.Phe1560Cys) c.3956T>G (p.Phe1319Cys) c.2507T>G (p.Phe836Cys) | |
2 | g.165386904T>A | CA349036585 | SCN2A | c.4710T>A (p.Phe1570Leu) c.*3029T>A (n.*3029T>A) c.*2697T>A (n.*2697T>A) c.*5233T>A (n.*5233T>A) c.*2652T>A (n.*2652T>A) c.4314T>A (p.Phe1438Leu) n.8141T>A c.4680T>A (p.Phe1560Leu) c.3957T>A (p.Phe1319Leu) c.2508T>A (p.Phe836Leu) | |
2 | g.165386904T>C | CA429972398 | SCN2A | c.4710T>C (p.Phe1570=) c.*3029T>C (n.*3029T>C) c.*2697T>C (n.*2697T>C) c.*5233T>C (n.*5233T>C) c.*2652T>C (n.*2652T>C) c.4314T>C (p.Phe1438=) n.8141T>C c.4680T>C (p.Phe1560=) c.3957T>C (p.Phe1319=) c.2508T>C (p.Phe836=) | COSMIC COSMIC |
2 | g.165386904T>G | CA349036587 | SCN2A | c.4710T>G (p.Phe1570Leu) c.*3029T>G (n.*3029T>G) c.*2697T>G (n.*2697T>G) c.*5233T>G (n.*5233T>G) c.*2652T>G (n.*2652T>G) c.4314T>G (p.Phe1438Leu) n.8141T>G c.4680T>G (p.Phe1560Leu) c.3957T>G (p.Phe1319Leu) c.2508T>G (p.Phe836Leu) | |
2 | g.165386905A>C | CA349036588 | SCN2A | c.4711A>C (p.Ile1571Leu) c.*3030A>C (n.*3030A>C) c.*2698A>C (n.*2698A>C) c.*5234A>C (n.*5234A>C) c.*2653A>C (n.*2653A>C) c.4315A>C (p.Ile1439Leu) n.8142A>C c.4681A>C (p.Ile1561Leu) c.3958A>C (p.Ile1320Leu) c.2509A>C (p.Ile837Leu) | |
2 | g.165386905A>G | CA349036589 | SCN2A | c.4711A>G (p.Ile1571Val) c.*3030A>G (n.*3030A>G) c.*2698A>G (n.*2698A>G) c.*5234A>G (n.*5234A>G) c.*2653A>G (n.*2653A>G) c.4315A>G (p.Ile1439Val) n.8142A>G c.4681A>G (p.Ile1561Val) c.3958A>G (p.Ile1320Val) c.2509A>G (p.Ile837Val) | |
2 | g.165386905A>T | CA349036590 | SCN2A | c.4711A>T (p.Ile1571Phe) c.*3030A>T (n.*3030A>T) c.*2698A>T (n.*2698A>T) c.*5234A>T (n.*5234A>T) c.*2653A>T (n.*2653A>T) c.4315A>T (p.Ile1439Phe) n.8142A>T c.4681A>T (p.Ile1561Phe) c.3958A>T (p.Ile1320Phe) c.2509A>T (p.Ile837Phe) | |
2 | g.165386906T>A | CA349036594 | SCN2A | c.4712T>A (p.Ile1571Asn) c.*3031T>A (n.*3031T>A) c.*2699T>A (n.*2699T>A) c.*5235T>A (n.*5235T>A) c.*2654T>A (n.*2654T>A) c.4316T>A (p.Ile1439Asn) n.8143T>A c.4682T>A (p.Ile1561Asn) c.3959T>A (p.Ile1320Asn) c.2510T>A (p.Ile837Asn) | |
2 | g.165386906T>C | CA349036596 | SCN2A | c.4712T>C (p.Ile1571Thr) c.*3031T>C (n.*3031T>C) c.*2699T>C (n.*2699T>C) c.*5235T>C (n.*5235T>C) c.*2654T>C (n.*2654T>C) c.4316T>C (p.Ile1439Thr) n.8143T>C c.4682T>C (p.Ile1561Thr) c.3959T>C (p.Ile1320Thr) c.2510T>C (p.Ile837Thr) | ClinVar dbSNP |
2 | g.165386906T>G | CA349036592 | SCN2A | c.4712T>G (p.Ile1571Ser) c.*3031T>G (n.*3031T>G) c.*2699T>G (n.*2699T>G) c.*5235T>G (n.*5235T>G) c.*2654T>G (n.*2654T>G) c.4316T>G (p.Ile1439Ser) n.8143T>G c.4682T>G (p.Ile1561Ser) c.3959T>G (p.Ile1320Ser) c.2510T>G (p.Ile837Ser) | |
2 | g.165386907T>A | CA429972400 | SCN2A | c.4713T>A (p.Ile1571=) c.*3032T>A (n.*3032T>A) c.*2700T>A (n.*2700T>A) c.*5236T>A (n.*5236T>A) c.*2655T>A (n.*2655T>A) c.4317T>A (p.Ile1439=) n.8144T>A c.4683T>A (p.Ile1561=) c.3960T>A (p.Ile1320=) c.2511T>A (p.Ile837=) | |
2 | g.165386907T>C | CA429972401 | SCN2A | c.4713T>C (p.Ile1571=) c.*3032T>C (n.*3032T>C) c.*2700T>C (n.*2700T>C) c.*5236T>C (n.*5236T>C) c.*2655T>C (n.*2655T>C) c.4317T>C (p.Ile1439=) n.8144T>C c.4683T>C (p.Ile1561=) c.3960T>C (p.Ile1320=) c.2511T>C (p.Ile837=) | |
2 | g.165386907T>G | CA349036597 | SCN2A | c.4713T>G (p.Ile1571Met) c.*3032T>G (n.*3032T>G) c.*2700T>G (n.*2700T>G) c.*5236T>G (n.*5236T>G) c.*2655T>G (n.*2655T>G) c.4317T>G (p.Ile1439Met) n.8144T>G c.4683T>G (p.Ile1561Met) c.3960T>G (p.Ile1320Met) c.2511T>G (p.Ile837Met) | ClinVar |
2 | g.165386908G>A | CA349036599 | SCN2A | c.4714G>A (p.Val1572Ile) c.*3033G>A (n.*3033G>A) c.*2701G>A (n.*2701G>A) c.*5237G>A (n.*5237G>A) c.*2656G>A (n.*2656G>A) c.4318G>A (p.Val1440Ile) n.8145G>A c.4684G>A (p.Val1562Ile) c.3961G>A (p.Val1321Ile) c.2512G>A (p.Val838Ile) | gnomAD v4 |
2 | g.165386908G>C | CA349036600 | SCN2A | c.4714G>C (p.Val1572Leu) c.*3033G>C (n.*3033G>C) c.*2701G>C (n.*2701G>C) c.*5237G>C (n.*5237G>C) c.*2656G>C (n.*2656G>C) c.4318G>C (p.Val1440Leu) n.8145G>C c.4684G>C (p.Val1562Leu) c.3961G>C (p.Val1321Leu) c.2512G>C (p.Val838Leu) | |
2 | g.165386908G>T | CA349036602 | SCN2A | c.4714G>T (p.Val1572Phe) c.*3033G>T (n.*3033G>T) c.*2701G>T (n.*2701G>T) c.*5237G>T (n.*5237G>T) c.*2656G>T (n.*2656G>T) c.4318G>T (p.Val1440Phe) n.8145G>T c.4684G>T (p.Val1562Phe) c.3961G>T (p.Val1321Phe) c.2512G>T (p.Val838Phe) | dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.165386909T>A | CA349036603 | SCN2A | c.4715T>A (p.Val1572Asp) c.*3034T>A (n.*3034T>A) c.*2702T>A (n.*2702T>A) c.*5238T>A (n.*5238T>A) c.*2657T>A (n.*2657T>A) c.4319T>A (p.Val1440Asp) n.8146T>A c.4685T>A (p.Val1562Asp) c.3962T>A (p.Val1321Asp) c.2513T>A (p.Val838Asp) | |
2 | g.165386909T>C | CA349036605 | SCN2A | c.4715T>C (p.Val1572Ala) c.*3034T>C (n.*3034T>C) c.*2702T>C (n.*2702T>C) c.*5238T>C (n.*5238T>C) c.*2657T>C (n.*2657T>C) c.4319T>C (p.Val1440Ala) n.8146T>C c.4685T>C (p.Val1562Ala) c.3962T>C (p.Val1321Ala) c.2513T>C (p.Val838Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.165386909T>G | CA349036606 | SCN2A | c.4715T>G (p.Val1572Gly) c.*3034T>G (n.*3034T>G) c.*2702T>G (n.*2702T>G) c.*5238T>G (n.*5238T>G) c.*2657T>G (n.*2657T>G) c.4319T>G (p.Val1440Gly) n.8146T>G c.4685T>G (p.Val1562Gly) c.3962T>G (p.Val1321Gly) c.2513T>G (p.Val838Gly) | |
2 | g.165386909T= | CA1304563798 | SCN2A | c.4715T= (p.Val1572=) c.*3034T= (n.*3034T=) c.*2702T= (n.*2702T=) c.*5238T= (n.*5238T=) c.*2657T= (n.*2657T=) c.4319T= (p.Val1440=) n.8146T= c.4685T= (p.Val1562=) c.3962T= (p.Val1321=) c.2513T= (p.Val838=) | |
2 | g.165386910T>A | CA429972402 | SCN2A | c.4716T>A (p.Val1572=) c.*3035T>A (n.*3035T>A) c.*2703T>A (n.*2703T>A) c.*5239T>A (n.*5239T>A) c.*2658T>A (n.*2658T>A) c.4320T>A (p.Val1440=) n.8147T>A c.4686T>A (p.Val1562=) c.3963T>A (p.Val1321=) c.2514T>A (p.Val838=) | |
2 | g.165386910T>C | CA429972403 | SCN2A | c.4716T>C (p.Val1572=) c.*3035T>C (n.*3035T>C) c.*2703T>C (n.*2703T>C) c.*5239T>C (n.*5239T>C) c.*2658T>C (n.*2658T>C) c.4320T>C (p.Val1440=) n.8147T>C c.4686T>C (p.Val1562=) c.3963T>C (p.Val1321=) c.2514T>C (p.Val838=) | |
2 | g.165386910T>G | CA429972404 | SCN2A | c.4716T>G (p.Val1572=) c.*3035T>G (n.*3035T>G) c.*2703T>G (n.*2703T>G) c.*5239T>G (n.*5239T>G) c.*2658T>G (n.*2658T>G) c.4320T>G (p.Val1440=) n.8147T>G c.4686T>G (p.Val1562=) c.3963T>G (p.Val1321=) c.2514T>G (p.Val838=) | |
2 | g.165386911C>A | CA349036607 | SCN2A | c.4717C>A (p.Leu1573Met) c.*3036C>A (n.*3036C>A) c.*2704C>A (n.*2704C>A) c.*5240C>A (n.*5240C>A) c.*2659C>A (n.*2659C>A) c.4321C>A (p.Leu1441Met) n.8148C>A c.4687C>A (p.Leu1563Met) c.3964C>A (p.Leu1322Met) c.2515C>A (p.Leu839Met) | |
2 | g.165386911C>G | CA349036609 | SCN2A | c.4717C>G (p.Leu1573Val) c.*3036C>G (n.*3036C>G) c.*2704C>G (n.*2704C>G) c.*5240C>G (n.*5240C>G) c.*2659C>G (n.*2659C>G) c.4321C>G (p.Leu1441Val) n.8148C>G c.4687C>G (p.Leu1563Val) c.3964C>G (p.Leu1322Val) c.2515C>G (p.Leu839Val) | |
2 | g.165386911C>T | CA429972405 | SCN2A | c.4717C>T (p.Leu1573=) c.*3036C>T (n.*3036C>T) c.*2704C>T (n.*2704C>T) c.*5240C>T (n.*5240C>T) c.*2659C>T (n.*2659C>T) c.4321C>T (p.Leu1441=) n.8148C>T c.4687C>T (p.Leu1563=) c.3964C>T (p.Leu1322=) c.2515C>T (p.Leu839=) | |
2 | g.165386912T>A | CA349036611 | SCN2A | c.4718T>A (p.Leu1573Gln) c.*3037T>A (n.*3037T>A) c.*2705T>A (n.*2705T>A) c.*5241T>A (n.*5241T>A) c.*2660T>A (n.*2660T>A) c.4322T>A (p.Leu1441Gln) n.8149T>A c.4688T>A (p.Leu1563Gln) c.3965T>A (p.Leu1322Gln) c.2516T>A (p.Leu839Gln) | |
2 | g.165386912T>C | CA318003 | SCN2A | c.4718T>C (p.Leu1573Pro) c.*3037T>C (n.*3037T>C) c.*2705T>C (n.*2705T>C) c.*5241T>C (n.*5241T>C) c.*2660T>C (n.*2660T>C) c.4322T>C (p.Leu1441Pro) n.8149T>C c.4688T>C (p.Leu1563Pro) c.3965T>C (p.Leu1322Pro) c.2516T>C (p.Leu839Pro) | ClinVar dbSNP |
2 | g.165386912T>G | CA349036613 | SCN2A | c.4718T>G (p.Leu1573Arg) c.*3037T>G (n.*3037T>G) c.*2705T>G (n.*2705T>G) c.*5241T>G (n.*5241T>G) c.*2660T>G (n.*2660T>G) c.4322T>G (p.Leu1441Arg) n.8149T>G c.4688T>G (p.Leu1563Arg) c.3965T>G (p.Leu1322Arg) c.2516T>G (p.Leu839Arg) | |
2 | g.165386912T= | CA1304563799 | SCN2A | c.4718T= (p.Leu1573=) c.*3037T= (n.*3037T=) c.*2705T= (n.*2705T=) c.*5241T= (n.*5241T=) c.*2660T= (n.*2660T=) c.4322T= (p.Leu1441=) n.8149T= c.4688T= (p.Leu1563=) c.3965T= (p.Leu1322=) c.2516T= (p.Leu839=) | |
2 | g.165386913G>A | CA429972406 | SCN2A | c.4719G>A (p.Leu1573=) c.*3038G>A (n.*3038G>A) c.*2706G>A (n.*2706G>A) c.*5242G>A (n.*5242G>A) c.*2661G>A (n.*2661G>A) c.4323G>A (p.Leu1441=) n.8150G>A c.4689G>A (p.Leu1563=) c.3966G>A (p.Leu1322=) c.2517G>A (p.Leu839=) | |
2 | g.165386913G>C | CA59751053 | SCN2A | c.4719G>C (p.Leu1573=) c.*3038G>C (n.*3038G>C) c.*2706G>C (n.*2706G>C) c.*5242G>C (n.*5242G>C) c.*2661G>C (n.*2661G>C) c.4323G>C (p.Leu1441=) n.8150G>C c.4689G>C (p.Leu1563=) c.3966G>C (p.Leu1322=) c.2517G>C (p.Leu839=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.165386913G= | CA1304563800 | SCN2A | c.4719G= (p.Leu1573=) c.*3038G= (n.*3038G=) c.*2706G= (n.*2706G=) c.*5242G= (n.*5242G=) c.*2661G= (n.*2661G=) c.4323G= (p.Leu1441=) n.8150G= c.4689G= (p.Leu1563=) c.3966G= (p.Leu1322=) c.2517G= (p.Leu839=) | |
2 | g.165386913G>T | CA429972407 | SCN2A | c.4719G>T (p.Leu1573=) c.*3038G>T (n.*3038G>T) c.*2706G>T (n.*2706G>T) c.*5242G>T (n.*5242G>T) c.*2661G>T (n.*2661G>T) c.4323G>T (p.Leu1441=) n.8150G>T c.4689G>T (p.Leu1563=) c.3966G>T (p.Leu1322=) c.2517G>T (p.Leu839=) | |
2 | g.165386914T>A | CA349036616 | SCN2A | c.4720T>A (p.Phe1574Ile) c.*3039T>A (n.*3039T>A) c.*2707T>A (n.*2707T>A) c.*5243T>A (n.*5243T>A) c.*2662T>A (n.*2662T>A) c.4324T>A (p.Phe1442Ile) n.8151T>A c.4690T>A (p.Phe1564Ile) c.3967T>A (p.Phe1323Ile) c.2518T>A (p.Phe840Ile) | |
2 | g.165386914T>C | CA349036617 | SCN2A | c.4720T>C (p.Phe1574Leu) c.*3039T>C (n.*3039T>C) c.*2707T>C (n.*2707T>C) c.*5243T>C (n.*5243T>C) c.*2662T>C (n.*2662T>C) c.4324T>C (p.Phe1442Leu) n.8151T>C c.4690T>C (p.Phe1564Leu) c.3967T>C (p.Phe1323Leu) c.2518T>C (p.Phe840Leu) | |
2 | g.165386914T>G | CA349036619 | SCN2A | c.4720T>G (p.Phe1574Val) c.*3039T>G (n.*3039T>G) c.*2707T>G (n.*2707T>G) c.*5243T>G (n.*5243T>G) c.*2662T>G (n.*2662T>G) c.4324T>G (p.Phe1442Val) n.8151T>G c.4690T>G (p.Phe1564Val) c.3967T>G (p.Phe1323Val) c.2518T>G (p.Phe840Val) | |
2 | g.165386915T>A | CA349036621 | SCN2A | c.4721T>A (p.Phe1574Tyr) c.*3040T>A (n.*3040T>A) c.*2708T>A (n.*2708T>A) c.*5244T>A (n.*5244T>A) c.*2663T>A (n.*2663T>A) c.4325T>A (p.Phe1442Tyr) n.8152T>A c.4691T>A (p.Phe1564Tyr) c.3968T>A (p.Phe1323Tyr) c.2519T>A (p.Phe840Tyr) | |
2 | g.165386915T>C | CA349036623 | SCN2A | c.4721T>C (p.Phe1574Ser) c.*3040T>C (n.*3040T>C) c.*2708T>C (n.*2708T>C) c.*5244T>C (n.*5244T>C) c.*2663T>C (n.*2663T>C) c.4325T>C (p.Phe1442Ser) n.8152T>C c.4691T>C (p.Phe1564Ser) c.3968T>C (p.Phe1323Ser) c.2519T>C (p.Phe840Ser) | |
2 | g.165386915T>G | CA349036622 | SCN2A | c.4721T>G (p.Phe1574Cys) c.*3040T>G (n.*3040T>G) c.*2708T>G (n.*2708T>G) c.*5244T>G (n.*5244T>G) c.*2663T>G (n.*2663T>G) c.4325T>G (p.Phe1442Cys) n.8152T>G c.4691T>G (p.Phe1564Cys) c.3968T>G (p.Phe1323Cys) c.2519T>G (p.Phe840Cys) | |
2 | g.165386916C>A | CA349036625 | SCN2A | c.4722C>A (p.Phe1574Leu) c.*3041C>A (n.*3041C>A) c.*2709C>A (n.*2709C>A) c.*5245C>A (n.*5245C>A) c.*2664C>A (n.*2664C>A) c.4326C>A (p.Phe1442Leu) n.8153C>A c.4692C>A (p.Phe1564Leu) c.3969C>A (p.Phe1323Leu) c.2520C>A (p.Phe840Leu) | ClinVar dbSNP |
2 | g.165386916C= | CA1304563801 | SCN2A | c.4722C= (p.Phe1574=) c.*3041C= (n.*3041C=) c.*2709C= (n.*2709C=) c.*5245C= (n.*5245C=) c.*2664C= (n.*2664C=) c.4326C= (p.Phe1442=) n.8153C= c.4692C= (p.Phe1564=) c.3969C= (p.Phe1323=) c.2520C= (p.Phe840=) | |
2 | g.165386916C>G | CA349036627 | SCN2A | c.4722C>G (p.Phe1574Leu) c.*3041C>G (n.*3041C>G) c.*2709C>G (n.*2709C>G) c.*5245C>G (n.*5245C>G) c.*2664C>G (n.*2664C>G) c.4326C>G (p.Phe1442Leu) n.8153C>G c.4692C>G (p.Phe1564Leu) c.3969C>G (p.Phe1323Leu) c.2520C>G (p.Phe840Leu) | |
2 | g.165386916C>T | CA429972409 | SCN2A | c.4722C>T (p.Phe1574=) c.*3041C>T (n.*3041C>T) c.*2709C>T (n.*2709C>T) c.*5245C>T (n.*5245C>T) c.*2664C>T (n.*2664C>T) c.4326C>T (p.Phe1442=) n.8153C>T c.4692C>T (p.Phe1564=) c.3969C>T (p.Phe1323=) c.2520C>T (p.Phe840=) | |
2 | g.165386917A>C | CA349036629 | SCN2A | c.4723A>C (p.Thr1575Pro) c.*3042A>C (n.*3042A>C) c.*2710A>C (n.*2710A>C) c.*5246A>C (n.*5246A>C) c.*2665A>C (n.*2665A>C) c.4327A>C (p.Thr1443Pro) n.8154A>C c.4693A>C (p.Thr1565Pro) c.3970A>C (p.Thr1324Pro) c.2521A>C (p.Thr841Pro) | |
2 | g.165386917A>G | CA349036630 | SCN2A | c.4723A>G (p.Thr1575Ala) c.*3042A>G (n.*3042A>G) c.*2710A>G (n.*2710A>G) c.*5246A>G (n.*5246A>G) c.*2665A>G (n.*2665A>G) c.4327A>G (p.Thr1443Ala) n.8154A>G c.4693A>G (p.Thr1565Ala) c.3970A>G (p.Thr1324Ala) c.2521A>G (p.Thr841Ala) | |
2 | g.165386917A>T | CA349036631 | SCN2A | c.4723A>T (p.Thr1575Ser) c.*3042A>T (n.*3042A>T) c.*2710A>T (n.*2710A>T) c.*5246A>T (n.*5246A>T) c.*2665A>T (n.*2665A>T) c.4327A>T (p.Thr1443Ser) n.8154A>T c.4693A>T (p.Thr1565Ser) c.3970A>T (p.Thr1324Ser) c.2521A>T (p.Thr841Ser) | |
2 | g.165386918C>A | CA349036635 | SCN2A | c.4724C>A (p.Thr1575Asn) c.*3043C>A (n.*3043C>A) c.*2711C>A (n.*2711C>A) c.*5247C>A (n.*5247C>A) c.*2666C>A (n.*2666C>A) c.4328C>A (p.Thr1443Asn) n.8155C>A c.4694C>A (p.Thr1565Asn) c.3971C>A (p.Thr1324Asn) c.2522C>A (p.Thr841Asn) | |
2 | g.165386918C>G | CA349036636 | SCN2A | c.4724C>G (p.Thr1575Ser) c.*3043C>G (n.*3043C>G) c.*2711C>G (n.*2711C>G) c.*5247C>G (n.*5247C>G) c.*2666C>G (n.*2666C>G) c.4328C>G (p.Thr1443Ser) n.8155C>G c.4694C>G (p.Thr1565Ser) c.3971C>G (p.Thr1324Ser) c.2522C>G (p.Thr841Ser) | |
2 | g.165386918C>T | CA349036638 | SCN2A | c.4724C>T (p.Thr1575Ile) c.*3043C>T (n.*3043C>T) c.*2711C>T (n.*2711C>T) c.*5247C>T (n.*5247C>T) c.*2666C>T (n.*2666C>T) c.4328C>T (p.Thr1443Ile) n.8155C>T c.4694C>T (p.Thr1565Ile) c.3971C>T (p.Thr1324Ile) c.2522C>T (p.Thr841Ile) | |
2 | g.165386919T>A | CA429972411 | SCN2A | c.4725T>A (p.Thr1575=) c.*3044T>A (n.*3044T>A) c.*2712T>A (n.*2712T>A) c.*5248T>A (n.*5248T>A) c.*2667T>A (n.*2667T>A) c.4329T>A (p.Thr1443=) n.8156T>A c.4695T>A (p.Thr1565=) c.3972T>A (p.Thr1324=) c.2523T>A (p.Thr841=) | |
2 | g.165386919T>C | CA429972412 | SCN2A | c.4725T>C (p.Thr1575=) c.*3044T>C (n.*3044T>C) c.*2712T>C (n.*2712T>C) c.*5248T>C (n.*5248T>C) c.*2667T>C (n.*2667T>C) c.4329T>C (p.Thr1443=) n.8156T>C c.4695T>C (p.Thr1565=) c.3972T>C (p.Thr1324=) c.2523T>C (p.Thr841=) | |
2 | g.165386919T>G | CA429972413 | SCN2A | c.4725T>G (p.Thr1575=) c.*3044T>G (n.*3044T>G) c.*2712T>G (n.*2712T>G) c.*5248T>G (n.*5248T>G) c.*2667T>G (n.*2667T>G) c.4329T>G (p.Thr1443=) n.8156T>G c.4695T>G (p.Thr1565=) c.3972T>G (p.Thr1324=) c.2523T>G (p.Thr841=) | |
2 | g.165386919_165386920delinsTG | CA1304563802 | SCN2A | c.4725_4726delinsTG (p.Thr1575=) c.*3044_*3045delinsTG (n.*3044_*3045delinsTG) c.*2712_*2713delinsTG (n.*2712_*2713delinsTG) c.*5248_*5249delinsTG (n.*5248_*5249delinsTG) c.*2667_*2668delinsTG (n.*2667_*2668delinsTG) c.4329_4330delinsTG (p.Thr1443=) n.8156_8157delinsTG c.4695_4696delinsTG (p.Thr1565=) c.3972_3973delinsTG (p.Thr1324=) c.2523_2524delinsTG (p.Thr841=) | |
2 | g.165386920G>A | CA354201 | SCN2A | c.4726G>A (p.Gly1576Arg) c.*3045G>A (n.*3045G>A) c.*2713G>A (n.*2713G>A) c.*5249G>A (n.*5249G>A) c.*2668G>A (n.*2668G>A) c.4330G>A (p.Gly1444Arg) n.8157G>A c.4696G>A (p.Gly1566Arg) c.3973G>A (p.Gly1325Arg) c.2524G>A (p.Gly842Arg) | ClinVar dbSNP |
2 | g.165386920G>C | CA349036640 | SCN2A | c.4726G>C (p.Gly1576Arg) c.*3045G>C (n.*3045G>C) c.*2713G>C (n.*2713G>C) c.*5249G>C (n.*5249G>C) c.*2668G>C (n.*2668G>C) c.4330G>C (p.Gly1444Arg) n.8157G>C c.4696G>C (p.Gly1566Arg) c.3973G>C (p.Gly1325Arg) c.2524G>C (p.Gly842Arg) | |
2 | g.165386920G= | CA1304563803 | SCN2A | c.4726G= (p.Gly1576=) c.*3045G= (n.*3045G=) c.*2713G= (n.*2713G=) c.*5249G= (n.*5249G=) c.*2668G= (n.*2668G=) c.4330G= (p.Gly1444=) n.8157G= c.4696G= (p.Gly1566=) c.3973G= (p.Gly1325=) c.2524G= (p.Gly842=) | |
2 | g.165386920G>T | CA349036642 | SCN2A | c.4726G>T (p.Gly1576Ter) c.*3045G>T (n.*3045G>T) c.*2713G>T (n.*2713G>T) c.*5249G>T (n.*5249G>T) c.*2668G>T (n.*2668G>T) c.4330G>T (p.Gly1444Ter) n.8157G>T c.4696G>T (p.Gly1566Ter) c.3973G>T (p.Gly1325Ter) c.2524G>T (p.Gly842Ter) | dbSNP |
2 | g.165386921del | CA658821441 | SCN2A | c.4727del (p.Gly1576GlufsTer5) c.*3046del (n.*3046del) c.*2714del (n.*2714del) c.*5250del (n.*5250del) c.*2669del (n.*2669del) c.4331del (p.Gly1444GlufsTer5) n.8158del c.4697del (p.Gly1566GlufsTer5) c.3974del (p.Gly1325GlufsTer5) c.2525del (p.Gly842GlufsTer5) | ClinVar dbSNP |
2 | g.165386921G>A | CA349036644 | SCN2A | c.4727G>A (p.Gly1576Glu) c.*3046G>A (n.*3046G>A) c.*2714G>A (n.*2714G>A) c.*5250G>A (n.*5250G>A) c.*2669G>A (n.*2669G>A) c.4331G>A (p.Gly1444Glu) n.8158G>A c.4697G>A (p.Gly1566Glu) c.3974G>A (p.Gly1325Glu) c.2525G>A (p.Gly842Glu) | COSMIC COSMIC |
2 | g.165386921G>C | CA349036647 | SCN2A | c.4727G>C (p.Gly1576Ala) c.*3046G>C (n.*3046G>C) c.*2714G>C (n.*2714G>C) c.*5250G>C (n.*5250G>C) c.*2669G>C (n.*2669G>C) c.4331G>C (p.Gly1444Ala) n.8158G>C c.4697G>C (p.Gly1566Ala) c.3974G>C (p.Gly1325Ala) c.2525G>C (p.Gly842Ala) | |
2 | g.165386921G>T | CA349036646 | SCN2A | c.4727G>T (p.Gly1576Val) c.*3046G>T (n.*3046G>T) c.*2714G>T (n.*2714G>T) c.*5250G>T (n.*5250G>T) c.*2669G>T (n.*2669G>T) c.4331G>T (p.Gly1444Val) n.8158G>T c.4697G>T (p.Gly1566Val) c.3974G>T (p.Gly1325Val) c.2525G>T (p.Gly842Val) | |
2 | g.165386922A>C | CA429972415 | SCN2A | c.4728A>C (p.Gly1576=) c.*3047A>C (n.*3047A>C) c.*2715A>C (n.*2715A>C) c.*5251A>C (n.*5251A>C) c.*2670A>C (n.*2670A>C) c.4332A>C (p.Gly1444=) n.8159A>C c.4698A>C (p.Gly1566=) c.3975A>C (p.Gly1325=) c.2526A>C (p.Gly842=) | |
2 | g.165386922A>G | CA429972416 | SCN2A | c.4728A>G (p.Gly1576=) c.*3047A>G (n.*3047A>G) c.*2715A>G (n.*2715A>G) c.*5251A>G (n.*5251A>G) c.*2670A>G (n.*2670A>G) c.4332A>G (p.Gly1444=) n.8159A>G c.4698A>G (p.Gly1566=) c.3975A>G (p.Gly1325=) c.2526A>G (p.Gly842=) | |
2 | g.165386922A>T | CA429972417 | SCN2A | c.4728A>T (p.Gly1576=) c.*3047A>T (n.*3047A>T) c.*2715A>T (n.*2715A>T) c.*5251A>T (n.*5251A>T) c.*2670A>T (n.*2670A>T) c.4332A>T (p.Gly1444=) n.8159A>T c.4698A>T (p.Gly1566=) c.3975A>T (p.Gly1325=) c.2526A>T (p.Gly842=) | |
2 | g.165386923G>A | CA349036649 | SCN2A | c.4729G>A (p.Glu1577Lys) c.*3048G>A (n.*3048G>A) c.*2716G>A (n.*2716G>A) c.*5252G>A (n.*5252G>A) c.*2671G>A (n.*2671G>A) c.4333G>A (p.Glu1445Lys) n.8160G>A c.4699G>A (p.Glu1567Lys) c.3976G>A (p.Glu1326Lys) c.2527G>A (p.Glu843Lys) | |
2 | g.165386923G>C | CA349036650 | SCN2A | c.4729G>C (p.Glu1577Gln) c.*3048G>C (n.*3048G>C) c.*2716G>C (n.*2716G>C) c.*5252G>C (n.*5252G>C) c.*2671G>C (n.*2671G>C) c.4333G>C (p.Glu1445Gln) n.8160G>C c.4699G>C (p.Glu1567Gln) c.3976G>C (p.Glu1326Gln) c.2527G>C (p.Glu843Gln) | |
2 | g.165386923G= | CA1304563804 | SCN2A | c.4729G= (p.Glu1577=) c.*3048G= (n.*3048G=) c.*2716G= (n.*2716G=) c.*5252G= (n.*5252G=) c.*2671G= (n.*2671G=) c.4333G= (p.Glu1445=) n.8160G= c.4699G= (p.Glu1567=) c.3976G= (p.Glu1326=) c.2527G= (p.Glu843=) | |
2 | g.165386923G>T | CA349036652 | SCN2A | c.4729G>T (p.Glu1577Ter) c.*3048G>T (n.*3048G>T) c.*2716G>T (n.*2716G>T) c.*5252G>T (n.*5252G>T) c.*2671G>T (n.*2671G>T) c.4333G>T (p.Glu1445Ter) n.8160G>T c.4699G>T (p.Glu1567Ter) c.3976G>T (p.Glu1326Ter) c.2527G>T (p.Glu843Ter) | dbSNP |
2 | g.165386924A>C | CA349036653 | SCN2A | c.4730A>C (p.Glu1577Ala) c.*3049A>C (n.*3049A>C) c.*2717A>C (n.*2717A>C) c.*5253A>C (n.*5253A>C) c.*2672A>C (n.*2672A>C) c.4334A>C (p.Glu1445Ala) n.8161A>C c.4700A>C (p.Glu1567Ala) c.3977A>C (p.Glu1326Ala) c.2528A>C (p.Glu843Ala) | |
2 | g.165386924A>G | CA349036655 | SCN2A | c.4730A>G (p.Glu1577Gly) c.*3049A>G (n.*3049A>G) c.*2717A>G (n.*2717A>G) c.*5253A>G (n.*5253A>G) c.*2672A>G (n.*2672A>G) c.4334A>G (p.Glu1445Gly) n.8161A>G c.4700A>G (p.Glu1567Gly) c.3977A>G (p.Glu1326Gly) c.2528A>G (p.Glu843Gly) | ClinVar |
2 | g.165386924A>T | CA349036656 | SCN2A | c.4730A>T (p.Glu1577Val) c.*3049A>T (n.*3049A>T) c.*2717A>T (n.*2717A>T) c.*5253A>T (n.*5253A>T) c.*2672A>T (n.*2672A>T) c.4334A>T (p.Glu1445Val) n.8161A>T c.4700A>T (p.Glu1567Val) c.3977A>T (p.Glu1326Val) c.2528A>T (p.Glu843Val) | |
2 | g.165386925A>C | CA349036658 | SCN2A | c.4731A>C (p.Glu1577Asp) c.*3050A>C (n.*3050A>C) c.*2718A>C (n.*2718A>C) c.*5254A>C (n.*5254A>C) c.*2673A>C (n.*2673A>C) c.4335A>C (p.Glu1445Asp) n.8162A>C c.4701A>C (p.Glu1567Asp) c.3978A>C (p.Glu1326Asp) c.2529A>C (p.Glu843Asp) | |
2 | g.165386925A>G | CA429972419 | SCN2A | c.4731A>G (p.Glu1577=) c.*3050A>G (n.*3050A>G) c.*2718A>G (n.*2718A>G) c.*5254A>G (n.*5254A>G) c.*2673A>G (n.*2673A>G) c.4335A>G (p.Glu1445=) n.8162A>G c.4701A>G (p.Glu1567=) c.3978A>G (p.Glu1326=) c.2529A>G (p.Glu843=) | |
2 | g.165386925A>T | CA349036660 | SCN2A | c.4731A>T (p.Glu1577Asp) c.*3050A>T (n.*3050A>T) c.*2718A>T (n.*2718A>T) c.*5254A>T (n.*5254A>T) c.*2673A>T (n.*2673A>T) c.4335A>T (p.Glu1445Asp) n.8162A>T c.4701A>T (p.Glu1567Asp) c.3978A>T (p.Glu1326Asp) c.2529A>T (p.Glu843Asp) | |
2 | g.165386926T>A | CA349036661 | SCN2A | c.4732T>A (p.Cys1578Ser) c.*3051T>A (n.*3051T>A) c.*2719T>A (n.*2719T>A) c.*5255T>A (n.*5255T>A) c.*2674T>A (n.*2674T>A) c.4336T>A (p.Cys1446Ser) n.8163T>A c.4702T>A (p.Cys1568Ser) c.3979T>A (p.Cys1327Ser) c.2530T>A (p.Cys844Ser) | |
2 | g.165386926T>C | CA349036663 | SCN2A | c.4732T>C (p.Cys1578Arg) c.*3051T>C (n.*3051T>C) c.*2719T>C (n.*2719T>C) c.*5255T>C (n.*5255T>C) c.*2674T>C (n.*2674T>C) c.4336T>C (p.Cys1446Arg) n.8163T>C c.4702T>C (p.Cys1568Arg) c.3979T>C (p.Cys1327Arg) c.2530T>C (p.Cys844Arg) | |
2 | g.165386926T>G | CA349036664 | SCN2A | c.4732T>G (p.Cys1578Gly) c.*3051T>G (n.*3051T>G) c.*2719T>G (n.*2719T>G) c.*5255T>G (n.*5255T>G) c.*2674T>G (n.*2674T>G) c.4336T>G (p.Cys1446Gly) n.8163T>G c.4702T>G (p.Cys1568Gly) c.3979T>G (p.Cys1327Gly) c.2530T>G (p.Cys844Gly) | ClinVar dbSNP |
2 | g.165386926T= | CA1304563805 | SCN2A | c.4732T= (p.Cys1578=) c.*3051T= (n.*3051T=) c.*2719T= (n.*2719T=) c.*5255T= (n.*5255T=) c.*2674T= (n.*2674T=) c.4336T= (p.Cys1446=) n.8163T= c.4702T= (p.Cys1568=) c.3979T= (p.Cys1327=) c.2530T= (p.Cys844=) | |
2 | g.165386927G>A | CA349036670 | SCN2A | c.4733G>A (p.Cys1578Tyr) c.*3052G>A (n.*3052G>A) c.*2720G>A (n.*2720G>A) c.*5256G>A (n.*5256G>A) c.*2675G>A (n.*2675G>A) c.4337G>A (p.Cys1446Tyr) n.8164G>A c.4703G>A (p.Cys1568Tyr) c.3980G>A (p.Cys1327Tyr) c.2531G>A (p.Cys844Tyr) | |
2 | g.165386927G>C | CA349036668 | SCN2A | c.4733G>C (p.Cys1578Ser) c.*3052G>C (n.*3052G>C) c.*2720G>C (n.*2720G>C) c.*5256G>C (n.*5256G>C) c.*2675G>C (n.*2675G>C) c.4337G>C (p.Cys1446Ser) n.8164G>C c.4703G>C (p.Cys1568Ser) c.3980G>C (p.Cys1327Ser) c.2531G>C (p.Cys844Ser) | |
2 | g.165386927G>T | CA349036667 | SCN2A | c.4733G>T (p.Cys1578Phe) c.*3052G>T (n.*3052G>T) c.*2720G>T (n.*2720G>T) c.*5256G>T (n.*5256G>T) c.*2675G>T (n.*2675G>T) c.4337G>T (p.Cys1446Phe) n.8164G>T c.4703G>T (p.Cys1568Phe) c.3980G>T (p.Cys1327Phe) c.2531G>T (p.Cys844Phe) | |
2 | g.165386928T>A | CA349036671 | SCN2A | c.4734T>A (p.Cys1578Ter) c.*3053T>A (n.*3053T>A) c.*2721T>A (n.*2721T>A) c.*5257T>A (n.*5257T>A) c.*2676T>A (n.*2676T>A) c.4338T>A (p.Cys1446Ter) n.8165T>A c.4704T>A (p.Cys1568Ter) c.3981T>A (p.Cys1327Ter) c.2532T>A (p.Cys844Ter) | dbSNP |
2 | g.165386928T>C | CA429972423 | SCN2A | c.4734T>C (p.Cys1578=) c.*3053T>C (n.*3053T>C) c.*2721T>C (n.*2721T>C) c.*5257T>C (n.*5257T>C) c.*2676T>C (n.*2676T>C) c.4338T>C (p.Cys1446=) n.8165T>C c.4704T>C (p.Cys1568=) c.3981T>C (p.Cys1327=) c.2532T>C (p.Cys844=) | gnomAD v4 |
2 | g.165386928T>G | CA349036672 | SCN2A | c.4734T>G (p.Cys1578Trp) c.*3053T>G (n.*3053T>G) c.*2721T>G (n.*2721T>G) c.*5257T>G (n.*5257T>G) c.*2676T>G (n.*2676T>G) c.4338T>G (p.Cys1446Trp) n.8165T>G c.4704T>G (p.Cys1568Trp) c.3981T>G (p.Cys1327Trp) c.2532T>G (p.Cys844Trp) | |
2 | g.165386928T= | CA1304563806 | SCN2A | c.4734T= (p.Cys1578=) c.*3053T= (n.*3053T=) c.*2721T= (n.*2721T=) c.*5257T= (n.*5257T=) c.*2676T= (n.*2676T=) c.4338T= (p.Cys1446=) n.8165T= c.4704T= (p.Cys1568=) c.3981T= (p.Cys1327=) c.2532T= (p.Cys844=) | |
2 | g.165386929G>A | CA349036674 | SCN2A | c.4735G>A (p.Val1579Met) c.*3054G>A (n.*3054G>A) c.*2722G>A (n.*2722G>A) c.*5258G>A (n.*5258G>A) c.*2677G>A (n.*2677G>A) c.4339G>A (p.Val1447Met) n.8166G>A c.4705G>A (p.Val1569Met) c.3982G>A (p.Val1328Met) c.2533G>A (p.Val845Met) | |
2 | g.165386929G>C | CA349036676 | SCN2A | c.4735G>C (p.Val1579Leu) c.*3054G>C (n.*3054G>C) c.*2722G>C (n.*2722G>C) c.*5258G>C (n.*5258G>C) c.*2677G>C (n.*2677G>C) c.4339G>C (p.Val1447Leu) n.8166G>C c.4705G>C (p.Val1569Leu) c.3982G>C (p.Val1328Leu) c.2533G>C (p.Val845Leu) | |
2 | g.165386929G>T | CA349036677 | SCN2A | c.4735G>T (p.Val1579Leu) c.*3054G>T (n.*3054G>T) c.*2722G>T (n.*2722G>T) c.*5258G>T (n.*5258G>T) c.*2677G>T (n.*2677G>T) c.4339G>T (p.Val1447Leu) n.8166G>T c.4705G>T (p.Val1569Leu) c.3982G>T (p.Val1328Leu) c.2533G>T (p.Val845Leu) | |
2 | g.165386930T>A | CA349036678 | SCN2A | c.4736T>A (p.Val1579Glu) c.*3055T>A (n.*3055T>A) c.*2723T>A (n.*2723T>A) c.*5259T>A (n.*5259T>A) c.*2678T>A (n.*2678T>A) c.4340T>A (p.Val1447Glu) n.8167T>A c.4706T>A (p.Val1569Glu) c.3983T>A (p.Val1328Glu) c.2534T>A (p.Val845Glu) | |
2 | g.165386930T>C | CA349036680 | SCN2A | c.4736T>C (p.Val1579Ala) c.*3055T>C (n.*3055T>C) c.*2723T>C (n.*2723T>C) c.*5259T>C (n.*5259T>C) c.*2678T>C (n.*2678T>C) c.4340T>C (p.Val1447Ala) n.8167T>C c.4706T>C (p.Val1569Ala) c.3983T>C (p.Val1328Ala) c.2534T>C (p.Val845Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.165386930T>G | CA349036682 | SCN2A | c.4736T>G (p.Val1579Gly) c.*3055T>G (n.*3055T>G) c.*2723T>G (n.*2723T>G) c.*5259T>G (n.*5259T>G) c.*2678T>G (n.*2678T>G) c.4340T>G (p.Val1447Gly) n.8167T>G c.4706T>G (p.Val1569Gly) c.3983T>G (p.Val1328Gly) c.2534T>G (p.Val845Gly) | |
2 | g.165386930T= | CA1304563807 | SCN2A | c.4736T= (p.Val1579=) c.*3055T= (n.*3055T=) c.*2723T= (n.*2723T=) c.*5259T= (n.*5259T=) c.*2678T= (n.*2678T=) c.4340T= (p.Val1447=) n.8167T= c.4706T= (p.Val1569=) c.3983T= (p.Val1328=) c.2534T= (p.Val845=) | |
2 | g.165386931G>A | CA429972424 | SCN2A | c.4737G>A (p.Val1579=) c.*3056G>A (n.*3056G>A) c.*2724G>A (n.*2724G>A) c.*5260G>A (n.*5260G>A) c.*2679G>A (n.*2679G>A) c.4341G>A (p.Val1447=) n.8168G>A c.4707G>A (p.Val1569=) c.3984G>A (p.Val1328=) c.2535G>A (p.Val845=) | gnomAD v4 |
2 | g.165386931G>C | CA429972425 | SCN2A | c.4737G>C (p.Val1579=) c.*3056G>C (n.*3056G>C) c.*2724G>C (n.*2724G>C) c.*5260G>C (n.*5260G>C) c.*2679G>C (n.*2679G>C) c.4341G>C (p.Val1447=) n.8168G>C c.4707G>C (p.Val1569=) c.3984G>C (p.Val1328=) c.2535G>C (p.Val845=) | |
2 | g.165386931G>T | CA429972426 | SCN2A | c.4737G>T (p.Val1579=) c.*3056G>T (n.*3056G>T) c.*2724G>T (n.*2724G>T) c.*5260G>T (n.*5260G>T) c.*2679G>T (n.*2679G>T) c.4341G>T (p.Val1447=) n.8168G>T c.4707G>T (p.Val1569=) c.3984G>T (p.Val1328=) c.2535G>T (p.Val845=) | |
2 | g.165386932C>A | CA349036683 | SCN2A | c.4738C>A (p.Leu1580Met) c.*3057C>A (n.*3057C>A) c.*2725C>A (n.*2725C>A) c.*5261C>A (n.*5261C>A) c.*2680C>A (n.*2680C>A) c.4342C>A (p.Leu1448Met) n.8169C>A c.4708C>A (p.Leu1570Met) c.3985C>A (p.Leu1329Met) c.2536C>A (p.Leu846Met) | |
2 | g.165386932C>G | CA349036685 | SCN2A | c.4738C>G (p.Leu1580Val) c.*3057C>G (n.*3057C>G) c.*2725C>G (n.*2725C>G) c.*5261C>G (n.*5261C>G) c.*2680C>G (n.*2680C>G) c.4342C>G (p.Leu1448Val) n.8169C>G c.4708C>G (p.Leu1570Val) c.3985C>G (p.Leu1329Val) c.2536C>G (p.Leu846Val) | |
2 | g.165386932C>T | CA429972427 | SCN2A | c.4738C>T (p.Leu1580=) c.*3057C>T (n.*3057C>T) c.*2725C>T (n.*2725C>T) c.*5261C>T (n.*5261C>T) c.*2680C>T (n.*2680C>T) c.4342C>T (p.Leu1448=) n.8169C>T c.4708C>T (p.Leu1570=) c.3985C>T (p.Leu1329=) c.2536C>T (p.Leu846=) | ClinVar |
2 | g.165386933T>A | CA349036686 | SCN2A | c.4739T>A (p.Leu1580Gln) c.*3058T>A (n.*3058T>A) c.*2726T>A (n.*2726T>A) c.*5262T>A (n.*5262T>A) c.*2681T>A (n.*2681T>A) c.4343T>A (p.Leu1448Gln) n.8170T>A c.4709T>A (p.Leu1570Gln) c.3986T>A (p.Leu1329Gln) c.2537T>A (p.Leu846Gln) | |
2 | g.165386933T>C | CA349036687 | SCN2A | c.4739T>C (p.Leu1580Pro) c.*3058T>C (n.*3058T>C) c.*2726T>C (n.*2726T>C) c.*5262T>C (n.*5262T>C) c.*2681T>C (n.*2681T>C) c.4343T>C (p.Leu1448Pro) n.8170T>C c.4709T>C (p.Leu1570Pro) c.3986T>C (p.Leu1329Pro) c.2537T>C (p.Leu846Pro) | |
2 | g.165386933T>G | CA349036689 | SCN2A | c.4739T>G (p.Leu1580Arg) c.*3058T>G (n.*3058T>G) c.*2726T>G (n.*2726T>G) c.*5262T>G (n.*5262T>G) c.*2681T>G (n.*2681T>G) c.4343T>G (p.Leu1448Arg) n.8170T>G c.4709T>G (p.Leu1570Arg) c.3986T>G (p.Leu1329Arg) c.2537T>G (p.Leu846Arg) | |
2 | g.165386934G>A | CA429972431 | SCN2A | c.4740G>A (p.Leu1580=) c.*3059G>A (n.*3059G>A) c.*2727G>A (n.*2727G>A) c.*5263G>A (n.*5263G>A) c.*2682G>A (n.*2682G>A) c.4344G>A (p.Leu1448=) n.8171G>A c.4710G>A (p.Leu1570=) c.3987G>A (p.Leu1329=) c.2538G>A (p.Leu846=) | |
2 | g.165386934G>C | CA429972429 | SCN2A | c.4740G>C (p.Leu1580=) c.*3059G>C (n.*3059G>C) c.*2727G>C (n.*2727G>C) c.*5263G>C (n.*5263G>C) c.*2682G>C (n.*2682G>C) c.4344G>C (p.Leu1448=) n.8171G>C c.4710G>C (p.Leu1570=) c.3987G>C (p.Leu1329=) c.2538G>C (p.Leu846=) | |
2 | g.165386934G>T | CA429972428 | SCN2A | c.4740G>T (p.Leu1580=) c.*3059G>T (n.*3059G>T) c.*2727G>T (n.*2727G>T) c.*5263G>T (n.*5263G>T) c.*2682G>T (n.*2682G>T) c.4344G>T (p.Leu1448=) n.8171G>T c.4710G>T (p.Leu1570=) c.3987G>T (p.Leu1329=) c.2538G>T (p.Leu846=) | |
2 | g.165386935A= | CA1304563808 | SCN2A | c.4741A= (p.Lys1581=) c.*3060A= (n.*3060A=) c.*2728A= (n.*2728A=) c.*5264A= (n.*5264A=) c.*2683A= (n.*2683A=) c.4345A= (p.Lys1449=) n.8172A= c.4711A= (p.Lys1571=) c.3988A= (p.Lys1330=) c.2539A= (p.Lys847=) | |
2 | g.165386935A>C | CA349036692 | SCN2A | c.4741A>C (p.Lys1581Gln) c.*3060A>C (n.*3060A>C) c.*2728A>C (n.*2728A>C) c.*5264A>C (n.*5264A>C) c.*2683A>C (n.*2683A>C) c.4345A>C (p.Lys1449Gln) n.8172A>C c.4711A>C (p.Lys1571Gln) c.3988A>C (p.Lys1330Gln) c.2539A>C (p.Lys847Gln) | |
2 | g.165386935A>G | CA349036694 | SCN2A | c.4741A>G (p.Lys1581Glu) c.*3060A>G (n.*3060A>G) c.*2728A>G (n.*2728A>G) c.*5264A>G (n.*5264A>G) c.*2683A>G (n.*2683A>G) c.4345A>G (p.Lys1449Glu) n.8172A>G c.4711A>G (p.Lys1571Glu) c.3988A>G (p.Lys1330Glu) c.2539A>G (p.Lys847Glu) | |
2 | g.165386935A>T | CA349036691 | SCN2A | c.4741A>T (p.Lys1581Ter) c.*3060A>T (n.*3060A>T) c.*2728A>T (n.*2728A>T) c.*5264A>T (n.*5264A>T) c.*2683A>T (n.*2683A>T) c.4345A>T (p.Lys1449Ter) n.8172A>T c.4711A>T (p.Lys1571Ter) c.3988A>T (p.Lys1330Ter) c.2539A>T (p.Lys847Ter) | dbSNP |
2 | g.165386935_165386936insT | CA2506734618 | SCN2A | c.4741_4742insT (p.Lys1581IlefsTer18) c.*3060_*3061insT (n.*3060_*3061insT) c.*2728_*2729insT (n.*2728_*2729insT) c.*5264_*5265insT (n.*5264_*5265insT) c.*2683_*2684insT (n.*2683_*2684insT) c.4345_4346insT (p.Lys1449IlefsTer18) n.8172_8173insT c.4711_4712insT (p.Lys1571IlefsTer18) c.3988_3989insT (p.Lys1330IlefsTer18) c.2539_2540insT (p.Lys847IlefsTer18) | |
2 | g.165386936A>C | CA349036699 | SCN2A | c.4742A>C (p.Lys1581Thr) c.*3061A>C (n.*3061A>C) c.*2729A>C (n.*2729A>C) c.*5265A>C (n.*5265A>C) c.*2684A>C (n.*2684A>C) c.4346A>C (p.Lys1449Thr) n.8173A>C c.4712A>C (p.Lys1571Thr) c.3989A>C (p.Lys1330Thr) c.2540A>C (p.Lys847Thr) | |
2 | g.165386936A>G | CA349036695 | SCN2A | c.4742A>G (p.Lys1581Arg) c.*3061A>G (n.*3061A>G) c.*2729A>G (n.*2729A>G) c.*5265A>G (n.*5265A>G) c.*2684A>G (n.*2684A>G) c.4346A>G (p.Lys1449Arg) n.8173A>G c.4712A>G (p.Lys1571Arg) c.3989A>G (p.Lys1330Arg) c.2540A>G (p.Lys847Arg) | |
2 | g.165386936A>T | CA349036697 | SCN2A | c.4742A>T (p.Lys1581Ile) c.*3061A>T (n.*3061A>T) c.*2729A>T (n.*2729A>T) c.*5265A>T (n.*5265A>T) c.*2684A>T (n.*2684A>T) c.4346A>T (p.Lys1449Ile) n.8173A>T c.4712A>T (p.Lys1571Ile) c.3989A>T (p.Lys1330Ile) c.2540A>T (p.Lys847Ile) | |
2 | g.165386936_165386937insTCAAAGACTTGTTTGGTTACAAAATCAAAG | CA2546252712 | SCN2A | c.4742_4743insTCAAAGACTTGTTTGGTTACAAAATCAAAG (p.Lys1581delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnArg) c.*3061_*3062insTCAAAGACTTGTTTGGTTACAAAATCAAAG (n.*3061_*3062insTCAAAGACTTGTTTGGTTACAAAATCAAAG) c.*2729_*2730insTCAAAGACTTGTTTGGTTACAAAATCAAAG (n.*2729_*2730insTCAAAGACTTGTTTGGTTACAAAATCAAAG) c.*5265_*5266insTCAAAGACTTGTTTGGTTACAAAATCAAAG (n.*5265_*5266insTCAAAGACTTGTTTGGTTACAAAATCAAAG) c.*2684_*2685insTCAAAGACTTGTTTGGTTACAAAATCAAAG (n.*2684_*2685insTCAAAGACTTGTTTGGTTACAAAATCAAAG) c.4346_4347insTCAAAGACTTGTTTGGTTACAAAATCAAAG (p.Lys1449delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnArg) n.8173_8174insTCAAAGACTTGTTTGGTTACAAAATCAAAG c.4712_4713insTCAAAGACTTGTTTGGTTACAAAATCAAAG (p.Lys1571delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnArg) c.3989_3990insTCAAAGACTTGTTTGGTTACAAAATCAAAG (p.Lys1330delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnArg) c.2540_2541insTCAAAGACTTGTTTGGTTACAAAATCAAAG (p.Lys847delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnArg) | |
2 | g.165386937A>C | CA349036701 | SCN2A | c.4743A>C (p.Lys1581Asn) c.*3062A>C (n.*3062A>C) c.*2730A>C (n.*2730A>C) c.*5266A>C (n.*5266A>C) c.*2685A>C (n.*2685A>C) c.4347A>C (p.Lys1449Asn) n.8174A>C c.4713A>C (p.Lys1571Asn) c.3990A>C (p.Lys1330Asn) c.2541A>C (p.Lys847Asn) | |
2 | g.165386937A>G | CA429972433 | SCN2A | c.4743A>G (p.Lys1581=) c.*3062A>G (n.*3062A>G) c.*2730A>G (n.*2730A>G) c.*5266A>G (n.*5266A>G) c.*2685A>G (n.*2685A>G) c.4347A>G (p.Lys1449=) n.8174A>G c.4713A>G (p.Lys1571=) c.3990A>G (p.Lys1330=) c.2541A>G (p.Lys847=) | |
2 | g.165386937A>T | CA349036702 | SCN2A | c.4743A>T (p.Lys1581Asn) c.*3062A>T (n.*3062A>T) c.*2730A>T (n.*2730A>T) c.*5266A>T (n.*5266A>T) c.*2685A>T (n.*2685A>T) c.4347A>T (p.Lys1449Asn) n.8174A>T c.4713A>T (p.Lys1571Asn) c.3990A>T (p.Lys1330Asn) c.2541A>T (p.Lys847Asn) | |
2 | g.165386938C>A | CA349036703 | SCN2A | c.4744C>A (p.Leu1582Met) c.*3063C>A (n.*3063C>A) c.*2731C>A (n.*2731C>A) c.*5267C>A (n.*5267C>A) c.*2686C>A (n.*2686C>A) c.4348C>A (p.Leu1450Met) n.8175C>A c.4714C>A (p.Leu1572Met) c.3991C>A (p.Leu1331Met) c.2542C>A (p.Leu848Met) | |
2 | g.165386938C>G | CA349036705 | SCN2A | c.4744C>G (p.Leu1582Val) c.*3063C>G (n.*3063C>G) c.*2731C>G (n.*2731C>G) c.*5267C>G (n.*5267C>G) c.*2686C>G (n.*2686C>G) c.4348C>G (p.Leu1450Val) n.8175C>G c.4714C>G (p.Leu1572Val) c.3991C>G (p.Leu1331Val) c.2542C>G (p.Leu848Val) | |
2 | g.165386938C>T | CA429972435 | SCN2A | c.4744C>T (p.Leu1582=) c.*3063C>T (n.*3063C>T) c.*2731C>T (n.*2731C>T) c.*5267C>T (n.*5267C>T) c.*2686C>T (n.*2686C>T) c.4348C>T (p.Leu1450=) n.8175C>T c.4714C>T (p.Leu1572=) c.3991C>T (p.Leu1331=) c.2542C>T (p.Leu848=) | |
2 | g.165386939T>A | CA349036707 | SCN2A | c.4745T>A (p.Leu1582Gln) c.*3064T>A (n.*3064T>A) c.*2732T>A (n.*2732T>A) c.*5268T>A (n.*5268T>A) c.*2687T>A (n.*2687T>A) c.4349T>A (p.Leu1450Gln) n.8176T>A c.4715T>A (p.Leu1572Gln) c.3992T>A (p.Leu1331Gln) c.2543T>A (p.Leu848Gln) | |
2 | g.165386939T>C | CA349036708 | SCN2A | c.4745T>C (p.Leu1582Pro) c.*3064T>C (n.*3064T>C) c.*2732T>C (n.*2732T>C) c.*5268T>C (n.*5268T>C) c.*2687T>C (n.*2687T>C) c.4349T>C (p.Leu1450Pro) n.8176T>C c.4715T>C (p.Leu1572Pro) c.3992T>C (p.Leu1331Pro) c.2543T>C (p.Leu848Pro) | ClinVar dbSNP |
2 | g.165386939T>G | CA349036710 | SCN2A | c.4745T>G (p.Leu1582Arg) c.*3064T>G (n.*3064T>G) c.*2732T>G (n.*2732T>G) c.*5268T>G (n.*5268T>G) c.*2687T>G (n.*2687T>G) c.4349T>G (p.Leu1450Arg) n.8176T>G c.4715T>G (p.Leu1572Arg) c.3992T>G (p.Leu1331Arg) c.2543T>G (p.Leu848Arg) | |
2 | g.165386939T= | CA1304563809 | SCN2A | c.4745T= (p.Leu1582=) c.*3064T= (n.*3064T=) c.*2732T= (n.*2732T=) c.*5268T= (n.*5268T=) c.*2687T= (n.*2687T=) c.4349T= (p.Leu1450=) n.8176T= c.4715T= (p.Leu1572=) c.3992T= (p.Leu1331=) c.2543T= (p.Leu848=) | |
2 | g.165386940G>A | CA429972436 | SCN2A | c.4746G>A (p.Leu1582=) c.*3065G>A (n.*3065G>A) c.*2733G>A (n.*2733G>A) c.*5269G>A (n.*5269G>A) c.*2688G>A (n.*2688G>A) c.4350G>A (p.Leu1450=) n.8177G>A c.4716G>A (p.Leu1572=) c.3993G>A (p.Leu1331=) c.2544G>A (p.Leu848=) | |
2 | g.165386940G>C | CA429972437 | SCN2A | c.4746G>C (p.Leu1582=) c.*3065G>C (n.*3065G>C) c.*2733G>C (n.*2733G>C) c.*5269G>C (n.*5269G>C) c.*2688G>C (n.*2688G>C) c.4350G>C (p.Leu1450=) n.8177G>C c.4716G>C (p.Leu1572=) c.3993G>C (p.Leu1331=) c.2544G>C (p.Leu848=) | |
2 | g.165386940G>T | CA429972438 | SCN2A | c.4746G>T (p.Leu1582=) c.*3065G>T (n.*3065G>T) c.*2733G>T (n.*2733G>T) c.*5269G>T (n.*5269G>T) c.*2688G>T (n.*2688G>T) c.4350G>T (p.Leu1450=) n.8177G>T c.4716G>T (p.Leu1572=) c.3993G>T (p.Leu1331=) c.2544G>T (p.Leu848=) | |
2 | g.165386941A= | CA1304563810 | SCN2A | c.4747A= (p.Ile1583=) c.*3066A= (n.*3066A=) c.*2734A= (n.*2734A=) c.*5270A= (n.*5270A=) c.*2689A= (n.*2689A=) c.4351A= (p.Ile1451=) n.8178A= c.4717A= (p.Ile1573=) c.3994A= (p.Ile1332=) c.2545A= (p.Ile849=) | |
2 | g.165386941A>C | CA349036712 | SCN2A | c.4747A>C (p.Ile1583Leu) c.*3066A>C (n.*3066A>C) c.*2734A>C (n.*2734A>C) c.*5270A>C (n.*5270A>C) c.*2689A>C (n.*2689A>C) c.4351A>C (p.Ile1451Leu) n.8178A>C c.4717A>C (p.Ile1573Leu) c.3994A>C (p.Ile1332Leu) c.2545A>C (p.Ile849Leu) | |
2 | g.165386941A>G | CA349036713 | SCN2A | c.4747A>G (p.Ile1583Val) c.*3066A>G (n.*3066A>G) c.*2734A>G (n.*2734A>G) c.*5270A>G (n.*5270A>G) c.*2689A>G (n.*2689A>G) c.4351A>G (p.Ile1451Val) n.8178A>G c.4717A>G (p.Ile1573Val) c.3994A>G (p.Ile1332Val) c.2545A>G (p.Ile849Val) | |
2 | g.165386941A>T | CA349036715 | SCN2A | c.4747A>T (p.Ile1583Phe) c.*3066A>T (n.*3066A>T) c.*2734A>T (n.*2734A>T) c.*5270A>T (n.*5270A>T) c.*2689A>T (n.*2689A>T) c.4351A>T (p.Ile1451Phe) n.8178A>T c.4717A>T (p.Ile1573Phe) c.3994A>T (p.Ile1332Phe) c.2545A>T (p.Ile849Phe) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.165386942T>A | CA349036718 | SCN2A | c.4748T>A (p.Ile1583Asn) c.*3067T>A (n.*3067T>A) c.*2735T>A (n.*2735T>A) c.*5271T>A (n.*5271T>A) c.*2690T>A (n.*2690T>A) c.4352T>A (p.Ile1451Asn) n.8179T>A c.4718T>A (p.Ile1573Asn) c.3995T>A (p.Ile1332Asn) c.2546T>A (p.Ile849Asn) | |
2 | g.165386942T>C | CA1940316 | SCN2A | c.4748T>C (p.Ile1583Thr) c.*3067T>C (n.*3067T>C) c.*2735T>C (n.*2735T>C) c.*5271T>C (n.*5271T>C) c.*2690T>C (n.*2690T>C) c.4352T>C (p.Ile1451Thr) n.8179T>C c.4718T>C (p.Ile1573Thr) c.3995T>C (p.Ile1332Thr) c.2546T>C (p.Ile849Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.165386942T>G | CA349036717 | SCN2A | c.4748T>G (p.Ile1583Ser) c.*3067T>G (n.*3067T>G) c.*2735T>G (n.*2735T>G) c.*5271T>G (n.*5271T>G) c.*2690T>G (n.*2690T>G) c.4352T>G (p.Ile1451Ser) n.8179T>G c.4718T>G (p.Ile1573Ser) c.3995T>G (p.Ile1332Ser) c.2546T>G (p.Ile849Ser) | |
2 | g.165386942T= | CA1304563811 | SCN2A | c.4748T= (p.Ile1583=) c.*3067T= (n.*3067T=) c.*2735T= (n.*2735T=) c.*5271T= (n.*5271T=) c.*2690T= (n.*2690T=) c.4352T= (p.Ile1451=) n.8179T= c.4718T= (p.Ile1573=) c.3995T= (p.Ile1332=) c.2546T= (p.Ile849=) | |
2 | g.165386943C>A | CA429972440 | SCN2A | c.4749C>A (p.Ile1583=) c.*3068C>A (n.*3068C>A) c.*2736C>A (n.*2736C>A) c.*5272C>A (n.*5272C>A) c.*2691C>A (n.*2691C>A) c.4353C>A (p.Ile1451=) n.8180C>A c.4719C>A (p.Ile1573=) c.3996C>A (p.Ile1332=) c.2547C>A (p.Ile849=) | |
2 | g.165386943C>G | CA349036720 | SCN2A | c.4749C>G (p.Ile1583Met) c.*3068C>G (n.*3068C>G) c.*2736C>G (n.*2736C>G) c.*5272C>G (n.*5272C>G) c.*2691C>G (n.*2691C>G) c.4353C>G (p.Ile1451Met) n.8180C>G c.4719C>G (p.Ile1573Met) c.3996C>G (p.Ile1332Met) c.2547C>G (p.Ile849Met) | |
2 | g.165386943C>T | CA429972441 | SCN2A | c.4749C>T (p.Ile1583=) c.*3068C>T (n.*3068C>T) c.*2736C>T (n.*2736C>T) c.*5272C>T (n.*5272C>T) c.*2691C>T (n.*2691C>T) c.4353C>T (p.Ile1451=) n.8180C>T c.4719C>T (p.Ile1573=) c.3996C>T (p.Ile1332=) c.2547C>T (p.Ile849=) | |
2 | g.165386944T>A | CA349036722 | SCN2A | c.4750T>A (p.Ser1584Thr) c.*3069T>A (n.*3069T>A) c.*2737T>A (n.*2737T>A) c.*5273T>A (n.*5273T>A) c.*2692T>A (n.*2692T>A) c.4354T>A (p.Ser1452Thr) n.8181T>A c.4720T>A (p.Ser1574Thr) c.3997T>A (p.Ser1333Thr) c.2548T>A (p.Ser850Thr) | |
2 | g.165386944T>C | CA349036723 | SCN2A | c.4750T>C (p.Ser1584Pro) c.*3069T>C (n.*3069T>C) c.*2737T>C (n.*2737T>C) c.*5273T>C (n.*5273T>C) c.*2692T>C (n.*2692T>C) c.4354T>C (p.Ser1452Pro) n.8181T>C c.4720T>C (p.Ser1574Pro) c.3997T>C (p.Ser1333Pro) c.2548T>C (p.Ser850Pro) | |
2 | g.165386944T>G | CA349036725 | SCN2A | c.4750T>G (p.Ser1584Ala) c.*3069T>G (n.*3069T>G) c.*2737T>G (n.*2737T>G) c.*5273T>G (n.*5273T>G) c.*2692T>G (n.*2692T>G) c.4354T>G (p.Ser1452Ala) n.8181T>G c.4720T>G (p.Ser1574Ala) c.3997T>G (p.Ser1333Ala) c.2548T>G (p.Ser850Ala) | |
2 | g.165386945C>A | CA349036727 | SCN2A | c.4751C>A (p.Ser1584Tyr) c.*3070C>A (n.*3070C>A) c.*2738C>A (n.*2738C>A) c.*5274C>A (n.*5274C>A) c.*2693C>A (n.*2693C>A) c.4355C>A (p.Ser1452Tyr) n.8182C>A c.4721C>A (p.Ser1574Tyr) c.3998C>A (p.Ser1333Tyr) c.2549C>A (p.Ser850Tyr) | |
2 | g.165386945C= | CA1304563812 | SCN2A | c.4751C= (p.Ser1584=) c.*3070C= (n.*3070C=) c.*2738C= (n.*2738C=) c.*5274C= (n.*5274C=) c.*2693C= (n.*2693C=) c.4355C= (p.Ser1452=) n.8182C= c.4721C= (p.Ser1574=) c.3998C= (p.Ser1333=) c.2549C= (p.Ser850=) | |
2 | g.165386945C>G | CA349036728 | SCN2A | c.4751C>G (p.Ser1584Cys) c.*3070C>G (n.*3070C>G) c.*2738C>G (n.*2738C>G) c.*5274C>G (n.*5274C>G) c.*2693C>G (n.*2693C>G) c.4355C>G (p.Ser1452Cys) n.8182C>G c.4721C>G (p.Ser1574Cys) c.3998C>G (p.Ser1333Cys) c.2549C>G (p.Ser850Cys) | gnomAD v4 |
2 | g.165386945C>T | CA318006 | SCN2A | c.4751C>T (p.Ser1584Phe) c.*3070C>T (n.*3070C>T) c.*2738C>T (n.*2738C>T) c.*5274C>T (n.*5274C>T) c.*2693C>T (n.*2693C>T) c.4355C>T (p.Ser1452Phe) n.8182C>T c.4721C>T (p.Ser1574Phe) c.3998C>T (p.Ser1333Phe) c.2549C>T (p.Ser850Phe) | dbSNP COSMIC COSMIC |
2 | g.165386946del | CA2580064478 | SCN2A | c.4752del (p.Leu1585PhefsTer23) c.*3071del (n.*3071del) c.*2739del (n.*2739del) c.*5275del (n.*5275del) c.*2694del (n.*2694del) c.4356del (p.Leu1453PhefsTer23) n.8183del c.4722del (p.Leu1575PhefsTer23) c.3999del (p.Leu1334PhefsTer23) c.2550del (p.Leu851PhefsTer23) | ClinVar |
2 | g.165386946T>A | CA429972443 | SCN2A | c.4752T>A (p.Ser1584=) c.*3071T>A (n.*3071T>A) c.*2739T>A (n.*2739T>A) c.*5275T>A (n.*5275T>A) c.*2694T>A (n.*2694T>A) c.4356T>A (p.Ser1452=) n.8183T>A c.4722T>A (p.Ser1574=) c.3999T>A (p.Ser1333=) c.2550T>A (p.Ser850=) | |
2 | g.165386946T>C | CA429972444 | SCN2A | c.4752T>C (p.Ser1584=) c.*3071T>C (n.*3071T>C) c.*2739T>C (n.*2739T>C) c.*5275T>C (n.*5275T>C) c.*2694T>C (n.*2694T>C) c.4356T>C (p.Ser1452=) n.8183T>C c.4722T>C (p.Ser1574=) c.3999T>C (p.Ser1333=) c.2550T>C (p.Ser850=) | |
2 | g.165386946T>G | CA429972445 | SCN2A | c.4752T>G (p.Ser1584=) c.*3071T>G (n.*3071T>G) c.*2739T>G (n.*2739T>G) c.*5275T>G (n.*5275T>G) c.*2694T>G (n.*2694T>G) c.4356T>G (p.Ser1452=) n.8183T>G c.4722T>G (p.Ser1574=) c.3999T>G (p.Ser1333=) c.2550T>G (p.Ser850=) | |
2 | g.165386947C>A | CA349036730 | SCN2A | c.4753C>A (p.Leu1585Ile) c.*3072C>A (n.*3072C>A) c.*2740C>A (n.*2740C>A) c.*5276C>A (n.*5276C>A) c.*2695C>A (n.*2695C>A) c.4357C>A (p.Leu1453Ile) n.8184C>A c.4723C>A (p.Leu1575Ile) c.4000C>A (p.Leu1334Ile) c.2551C>A (p.Leu851Ile) | |
2 | g.165386947C= | CA1304563813 | SCN2A | c.4753C= (p.Leu1585=) c.*3072C= (n.*3072C=) c.*2740C= (n.*2740C=) c.*5276C= (n.*5276C=) c.*2695C= (n.*2695C=) c.4357C= (p.Leu1453=) n.8184C= c.4723C= (p.Leu1575=) c.4000C= (p.Leu1334=) c.2551C= (p.Leu851=) | |
2 | g.165386947C>G | CA349036732 | SCN2A | c.4753C>G (p.Leu1585Val) c.*3072C>G (n.*3072C>G) c.*2740C>G (n.*2740C>G) c.*5276C>G (n.*5276C>G) c.*2695C>G (n.*2695C>G) c.4357C>G (p.Leu1453Val) n.8184C>G c.4723C>G (p.Leu1575Val) c.4000C>G (p.Leu1334Val) c.2551C>G (p.Leu851Val) | |
2 | g.165386947C>T | CA349036733 | SCN2A | c.4753C>T (p.Leu1585Phe) c.*3072C>T (n.*3072C>T) c.*2740C>T (n.*2740C>T) c.*5276C>T (n.*5276C>T) c.*2695C>T (n.*2695C>T) c.4357C>T (p.Leu1453Phe) n.8184C>T c.4723C>T (p.Leu1575Phe) c.4000C>T (p.Leu1334Phe) c.2551C>T (p.Leu851Phe) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.165386948T>A | CA349036735 | SCN2A | c.4754T>A (p.Leu1585His) c.*3073T>A (n.*3073T>A) c.*2741T>A (n.*2741T>A) c.*5277T>A (n.*5277T>A) c.*2696T>A (n.*2696T>A) c.4358T>A (p.Leu1453His) n.8185T>A c.4724T>A (p.Leu1575His) c.4001T>A (p.Leu1334His) c.2552T>A (p.Leu851His) | |
2 | g.165386948T>C | CA349036736 | SCN2A | c.4754T>C (p.Leu1585Pro) c.*3073T>C (n.*3073T>C) c.*2741T>C (n.*2741T>C) c.*5277T>C (n.*5277T>C) c.*2696T>C (n.*2696T>C) c.4358T>C (p.Leu1453Pro) n.8185T>C c.4724T>C (p.Leu1575Pro) c.4001T>C (p.Leu1334Pro) c.2552T>C (p.Leu851Pro) | |
2 | g.165386948T>G | CA349036738 | SCN2A | c.4754T>G (p.Leu1585Arg) c.*3073T>G (n.*3073T>G) c.*2741T>G (n.*2741T>G) c.*5277T>G (n.*5277T>G) c.*2696T>G (n.*2696T>G) c.4358T>G (p.Leu1453Arg) n.8185T>G c.4724T>G (p.Leu1575Arg) c.4001T>G (p.Leu1334Arg) c.2552T>G (p.Leu851Arg) | |
2 | g.165386949T>A | CA429972448 | SCN2A | c.4755T>A (p.Leu1585=) c.*3074T>A (n.*3074T>A) c.*2742T>A (n.*2742T>A) c.*5278T>A (n.*5278T>A) c.*2697T>A (n.*2697T>A) c.4359T>A (p.Leu1453=) n.8186T>A c.4725T>A (p.Leu1575=) c.4002T>A (p.Leu1334=) c.2553T>A (p.Leu851=) | |
2 | g.165386949T>C | CA429972449 | SCN2A | c.4755T>C (p.Leu1585=) c.*3074T>C (n.*3074T>C) c.*2742T>C (n.*2742T>C) c.*5278T>C (n.*5278T>C) c.*2697T>C (n.*2697T>C) c.4359T>C (p.Leu1453=) n.8186T>C c.4725T>C (p.Leu1575=) c.4002T>C (p.Leu1334=) c.2553T>C (p.Leu851=) | gnomAD v4 |
2 | g.165386949T>G | CA429972450 | SCN2A | c.4755T>G (p.Leu1585=) c.*3074T>G (n.*3074T>G) c.*2742T>G (n.*2742T>G) c.*5278T>G (n.*5278T>G) c.*2697T>G (n.*2697T>G) c.4359T>G (p.Leu1453=) n.8186T>G c.4725T>G (p.Leu1575=) c.4002T>G (p.Leu1334=) c.2553T>G (p.Leu851=) | gnomAD v4 |
2 | g.165386950C>A | CA349036741 | SCN2A | c.4756C>A (p.Arg1586Ser) c.*3075C>A (n.*3075C>A) c.*2743C>A (n.*2743C>A) c.*5279C>A (n.*5279C>A) c.*2698C>A (n.*2698C>A) c.4360C>A (p.Arg1454Ser) n.8187C>A c.4726C>A (p.Arg1576Ser) c.4003C>A (p.Arg1335Ser) c.2554C>A (p.Arg852Ser) | |
2 | g.165386950C>G | CA349036742 | SCN2A | c.4756C>G (p.Arg1586Gly) c.*3075C>G (n.*3075C>G) c.*2743C>G (n.*2743C>G) c.*5279C>G (n.*5279C>G) c.*2698C>G (n.*2698C>G) c.4360C>G (p.Arg1454Gly) n.8187C>G c.4726C>G (p.Arg1576Gly) c.4003C>G (p.Arg1335Gly) c.2554C>G (p.Arg852Gly) | |
2 | g.165386950C>T | CA349036739 | SCN2A | c.4756C>T (p.Arg1586Cys) c.*3075C>T (n.*3075C>T) c.*2743C>T (n.*2743C>T) c.*5279C>T (n.*5279C>T) c.*2698C>T (n.*2698C>T) c.4360C>T (p.Arg1454Cys) n.8187C>T c.4726C>T (p.Arg1576Cys) c.4003C>T (p.Arg1335Cys) c.2554C>T (p.Arg852Cys) | gnomAD v4 COSMIC COSMIC |
2 | g.165386951G>A | CA349036743 | SCN2A | c.4757G>A (p.Arg1586His) c.*3076G>A (n.*3076G>A) c.*2744G>A (n.*2744G>A) c.*5280G>A (n.*5280G>A) c.*2699G>A (n.*2699G>A) c.4361G>A (p.Arg1454His) n.8188G>A c.4727G>A (p.Arg1576His) c.4004G>A (p.Arg1335His) c.2555G>A (p.Arg852His) | ClinVar dbSNP gnomAD v4 |
2 | g.165386951G>C | CA349036744 | SCN2A | c.4757G>C (p.Arg1586Pro) c.*3076G>C (n.*3076G>C) c.*2744G>C (n.*2744G>C) c.*5280G>C (n.*5280G>C) c.*2699G>C (n.*2699G>C) c.4361G>C (p.Arg1454Pro) n.8188G>C c.4727G>C (p.Arg1576Pro) c.4004G>C (p.Arg1335Pro) c.2555G>C (p.Arg852Pro) | |
2 | g.165386951G= | CA1304563814 | SCN2A | c.4757G= (p.Arg1586=) c.*3076G= (n.*3076G=) c.*2744G= (n.*2744G=) c.*5280G= (n.*5280G=) c.*2699G= (n.*2699G=) c.4361G= (p.Arg1454=) n.8188G= c.4727G= (p.Arg1576=) c.4004G= (p.Arg1335=) c.2555G= (p.Arg852=) | |
2 | g.165386951G>T | CA349036745 | SCN2A | c.4757G>T (p.Arg1586Leu) c.*3076G>T (n.*3076G>T) c.*2744G>T (n.*2744G>T) c.*5280G>T (n.*5280G>T) c.*2699G>T (n.*2699G>T) c.4361G>T (p.Arg1454Leu) n.8188G>T c.4727G>T (p.Arg1576Leu) c.4004G>T (p.Arg1335Leu) c.2555G>T (p.Arg852Leu) |