Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.165386825A>C | CA349036325 | SCN2A | c.4631A>C (p.Asn1544Thr) c.*2950A>C (n.*2950A>C) c.*2618A>C (n.*2618A>C) c.*5154A>C (n.*5154A>C) c.*2573A>C (n.*2573A>C) c.4235A>C (p.Asn1412Thr) n.8062A>C c.4601A>C (p.Asn1534Thr) c.3878A>C (p.Asn1293Thr) c.2429A>C (p.Asn810Thr) | |
2 | g.165386825A>G | CA349036327 | SCN2A | c.4631A>G (p.Asn1544Ser) c.*2950A>G (n.*2950A>G) c.*2618A>G (n.*2618A>G) c.*5154A>G (n.*5154A>G) c.*2573A>G (n.*2573A>G) c.4235A>G (p.Asn1412Ser) n.8062A>G c.4601A>G (p.Asn1534Ser) c.3878A>G (p.Asn1293Ser) c.2429A>G (p.Asn810Ser) | |
2 | g.165386825A>T | CA349036326 | SCN2A | c.4631A>T (p.Asn1544Ile) c.*2950A>T (n.*2950A>T) c.*2618A>T (n.*2618A>T) c.*5154A>T (n.*5154A>T) c.*2573A>T (n.*2573A>T) c.4235A>T (p.Asn1412Ile) n.8062A>T c.4601A>T (p.Asn1534Ile) c.3878A>T (p.Asn1293Ile) c.2429A>T (p.Asn810Ile) | |
2 | g.165386826C>A | CA349036328 | SCN2A | c.4632C>A (p.Asn1544Lys) c.*2951C>A (n.*2951C>A) c.*2619C>A (n.*2619C>A) c.*5155C>A (n.*5155C>A) c.*2574C>A (n.*2574C>A) c.4236C>A (p.Asn1412Lys) n.8063C>A c.4602C>A (p.Asn1534Lys) c.3879C>A (p.Asn1293Lys) c.2430C>A (p.Asn810Lys) | |
2 | g.165386826C>G | CA349036329 | SCN2A | c.4632C>G (p.Asn1544Lys) c.*2951C>G (n.*2951C>G) c.*2619C>G (n.*2619C>G) c.*5155C>G (n.*5155C>G) c.*2574C>G (n.*2574C>G) c.4236C>G (p.Asn1412Lys) n.8063C>G c.4602C>G (p.Asn1534Lys) c.3879C>G (p.Asn1293Lys) c.2430C>G (p.Asn810Lys) | |
2 | g.165386826C>T | CA429972539 | SCN2A | c.4632C>T (p.Asn1544=) c.*2951C>T (n.*2951C>T) c.*2619C>T (n.*2619C>T) c.*5155C>T (n.*5155C>T) c.*2574C>T (n.*2574C>T) c.4236C>T (p.Asn1412=) n.8063C>T c.4602C>T (p.Asn1534=) c.3879C>T (p.Asn1293=) c.2430C>T (p.Asn810=) | |
2 | g.165386827A= | CA1304563766 | SCN2A | c.4633A= (p.Met1545=) c.*2952A= (n.*2952A=) c.*2620A= (n.*2620A=) c.*5156A= (n.*5156A=) c.*2575A= (n.*2575A=) c.4237A= (p.Met1413=) n.8064A= c.4603A= (p.Met1535=) c.3880A= (p.Met1294=) c.2431A= (p.Met811=) | |
2 | g.165386827A>C | CA349036330 | SCN2A | c.4633A>C (p.Met1545Leu) c.*2952A>C (n.*2952A>C) c.*2620A>C (n.*2620A>C) c.*5156A>C (n.*5156A>C) c.*2575A>C (n.*2575A>C) c.4237A>C (p.Met1413Leu) n.8064A>C c.4603A>C (p.Met1535Leu) c.3880A>C (p.Met1294Leu) c.2431A>C (p.Met811Leu) | |
2 | g.165386827A>G | CA317997 | SCN2A | c.4633A>G (p.Met1545Val) c.*2952A>G (n.*2952A>G) c.*2620A>G (n.*2620A>G) c.*5156A>G (n.*5156A>G) c.*2575A>G (n.*2575A>G) c.4237A>G (p.Met1413Val) n.8064A>G c.4603A>G (p.Met1535Val) c.3880A>G (p.Met1294Val) c.2431A>G (p.Met811Val) | ClinVar dbSNP |
2 | g.165386827A>T | CA349036331 | SCN2A | c.4633A>T (p.Met1545Leu) c.*2952A>T (n.*2952A>T) c.*2620A>T (n.*2620A>T) c.*5156A>T (n.*5156A>T) c.*2575A>T (n.*2575A>T) c.4237A>T (p.Met1413Leu) n.8064A>T c.4603A>T (p.Met1535Leu) c.3880A>T (p.Met1294Leu) c.2431A>T (p.Met811Leu) | |
2 | g.165386828T>A | CA349036332 | SCN2A | c.4634T>A (p.Met1545Lys) c.*2953T>A (n.*2953T>A) c.*2621T>A (n.*2621T>A) c.*5157T>A (n.*5157T>A) c.*2576T>A (n.*2576T>A) c.4238T>A (p.Met1413Lys) n.8065T>A c.4604T>A (p.Met1535Lys) c.3881T>A (p.Met1294Lys) c.2432T>A (p.Met811Lys) | |
2 | g.165386828T>C | CA349036333 | SCN2A | c.4634T>C (p.Met1545Thr) c.*2953T>C (n.*2953T>C) c.*2621T>C (n.*2621T>C) c.*5157T>C (n.*5157T>C) c.*2576T>C (n.*2576T>C) c.4238T>C (p.Met1413Thr) n.8065T>C c.4604T>C (p.Met1535Thr) c.3881T>C (p.Met1294Thr) c.2432T>C (p.Met811Thr) | |
2 | g.165386828T>G | CA349036334 | SCN2A | c.4634T>G (p.Met1545Arg) c.*2953T>G (n.*2953T>G) c.*2621T>G (n.*2621T>G) c.*5157T>G (n.*5157T>G) c.*2576T>G (n.*2576T>G) c.4238T>G (p.Met1413Arg) n.8065T>G c.4604T>G (p.Met1535Arg) c.3881T>G (p.Met1294Arg) c.2432T>G (p.Met811Arg) | |
2 | g.165386829G>A | CA349036335 | SCN2A | c.4635G>A (p.Met1545Ile) c.*2954G>A (n.*2954G>A) c.*2622G>A (n.*2622G>A) c.*5158G>A (n.*5158G>A) c.*2577G>A (n.*2577G>A) c.4239G>A (p.Met1413Ile) n.8066G>A c.4605G>A (p.Met1535Ile) c.3882G>A (p.Met1294Ile) c.2433G>A (p.Met811Ile) | |
2 | g.165386829G>C | CA349036336 | SCN2A | c.4635G>C (p.Met1545Ile) c.*2954G>C (n.*2954G>C) c.*2622G>C (n.*2622G>C) c.*5158G>C (n.*5158G>C) c.*2577G>C (n.*2577G>C) c.4239G>C (p.Met1413Ile) n.8066G>C c.4605G>C (p.Met1535Ile) c.3882G>C (p.Met1294Ile) c.2433G>C (p.Met811Ile) | ClinVar dbSNP |
2 | g.165386829G= | CA1304563767 | SCN2A | c.4635G= (p.Met1545=) c.*2954G= (n.*2954G=) c.*2622G= (n.*2622G=) c.*5158G= (n.*5158G=) c.*2577G= (n.*2577G=) c.4239G= (p.Met1413=) n.8066G= c.4605G= (p.Met1535=) c.3882G= (p.Met1294=) c.2433G= (p.Met811=) | |
2 | g.165386829G>T | CA349036337 | SCN2A | c.4635G>T (p.Met1545Ile) c.*2954G>T (n.*2954G>T) c.*2622G>T (n.*2622G>T) c.*5158G>T (n.*5158G>T) c.*2577G>T (n.*2577G>T) c.4239G>T (p.Met1413Ile) n.8066G>T c.4605G>T (p.Met1535Ile) c.3882G>T (p.Met1294Ile) c.2433G>T (p.Met811Ile) | ClinVar dbSNP COSMIC COSMIC |
2 | g.165386830G>A | CA349036339 | SCN2A | c.4636G>A (p.Val1546Ile) c.*2955G>A (n.*2955G>A) c.*2623G>A (n.*2623G>A) c.*5159G>A (n.*5159G>A) c.*2578G>A (n.*2578G>A) c.4240G>A (p.Val1414Ile) n.8067G>A c.4606G>A (p.Val1536Ile) c.3883G>A (p.Val1295Ile) c.2434G>A (p.Val812Ile) | gnomAD v4 |
2 | g.165386830G>C | CA349036340 | SCN2A | c.4636G>C (p.Val1546Leu) c.*2955G>C (n.*2955G>C) c.*2623G>C (n.*2623G>C) c.*5159G>C (n.*5159G>C) c.*2578G>C (n.*2578G>C) c.4240G>C (p.Val1414Leu) n.8067G>C c.4606G>C (p.Val1536Leu) c.3883G>C (p.Val1295Leu) c.2434G>C (p.Val812Leu) | |
2 | g.165386830G>T | CA349036338 | SCN2A | c.4636G>T (p.Val1546Phe) c.*2955G>T (n.*2955G>T) c.*2623G>T (n.*2623G>T) c.*5159G>T (n.*5159G>T) c.*2578G>T (n.*2578G>T) c.4240G>T (p.Val1414Phe) n.8067G>T c.4606G>T (p.Val1536Phe) c.3883G>T (p.Val1295Phe) c.2434G>T (p.Val812Phe) | gnomAD v4 |
2 | g.165386831T>A | CA349036343 | SCN2A | c.4637T>A (p.Val1546Asp) c.*2956T>A (n.*2956T>A) c.*2624T>A (n.*2624T>A) c.*5160T>A (n.*5160T>A) c.*2579T>A (n.*2579T>A) c.4241T>A (p.Val1414Asp) n.8068T>A c.4607T>A (p.Val1536Asp) c.3884T>A (p.Val1295Asp) c.2435T>A (p.Val812Asp) | |
2 | g.165386831T>C | CA349036341 | SCN2A | c.4637T>C (p.Val1546Ala) c.*2956T>C (n.*2956T>C) c.*2624T>C (n.*2624T>C) c.*5160T>C (n.*5160T>C) c.*2579T>C (n.*2579T>C) c.4241T>C (p.Val1414Ala) n.8068T>C c.4607T>C (p.Val1536Ala) c.3884T>C (p.Val1295Ala) c.2435T>C (p.Val812Ala) | |
2 | g.165386831T>G | CA349036342 | SCN2A | c.4637T>G (p.Val1546Gly) c.*2956T>G (n.*2956T>G) c.*2624T>G (n.*2624T>G) c.*5160T>G (n.*5160T>G) c.*2579T>G (n.*2579T>G) c.4241T>G (p.Val1414Gly) n.8068T>G c.4607T>G (p.Val1536Gly) c.3884T>G (p.Val1295Gly) c.2435T>G (p.Val812Gly) | gnomAD v4 |
2 | g.165386832C>A | CA429972553 | SCN2A | c.4638C>A (p.Val1546=) c.*2957C>A (n.*2957C>A) c.*2625C>A (n.*2625C>A) c.*5161C>A (n.*5161C>A) c.*2580C>A (n.*2580C>A) c.4242C>A (p.Val1414=) n.8069C>A c.4608C>A (p.Val1536=) c.3885C>A (p.Val1295=) c.2436C>A (p.Val812=) | |
2 | g.165386832C>G | CA429972556 | SCN2A | c.4638C>G (p.Val1546=) c.*2957C>G (n.*2957C>G) c.*2625C>G (n.*2625C>G) c.*5161C>G (n.*5161C>G) c.*2580C>G (n.*2580C>G) c.4242C>G (p.Val1414=) n.8069C>G c.4608C>G (p.Val1536=) c.3885C>G (p.Val1295=) c.2436C>G (p.Val812=) | |
2 | g.165386832C>T | CA429972557 | SCN2A | c.4638C>T (p.Val1546=) c.*2957C>T (n.*2957C>T) c.*2625C>T (n.*2625C>T) c.*5161C>T (n.*5161C>T) c.*2580C>T (n.*2580C>T) c.4242C>T (p.Val1414=) n.8069C>T c.4608C>T (p.Val1536=) c.3885C>T (p.Val1295=) c.2436C>T (p.Val812=) | gnomAD v4 |
2 | g.165386833A>C | CA349036344 | SCN2A | c.4639A>C (p.Thr1547Pro) c.*2958A>C (n.*2958A>C) c.*2626A>C (n.*2626A>C) c.*5162A>C (n.*5162A>C) c.*2581A>C (n.*2581A>C) c.4243A>C (p.Thr1415Pro) n.8070A>C c.4609A>C (p.Thr1537Pro) c.3886A>C (p.Thr1296Pro) c.2437A>C (p.Thr813Pro) | |
2 | g.165386833A>G | CA349036345 | SCN2A | c.4639A>G (p.Thr1547Ala) c.*2958A>G (n.*2958A>G) c.*2626A>G (n.*2626A>G) c.*5162A>G (n.*5162A>G) c.*2581A>G (n.*2581A>G) c.4243A>G (p.Thr1415Ala) n.8070A>G c.4609A>G (p.Thr1537Ala) c.3886A>G (p.Thr1296Ala) c.2437A>G (p.Thr813Ala) | |
2 | g.165386833A>T | CA349036346 | SCN2A | c.4639A>T (p.Thr1547Ser) c.*2958A>T (n.*2958A>T) c.*2626A>T (n.*2626A>T) c.*5162A>T (n.*5162A>T) c.*2581A>T (n.*2581A>T) c.4243A>T (p.Thr1415Ser) n.8070A>T c.4609A>T (p.Thr1537Ser) c.3886A>T (p.Thr1296Ser) c.2437A>T (p.Thr813Ser) | |
2 | g.165386834C>A | CA349036347 | SCN2A | c.4640C>A (p.Thr1547Asn) c.*2959C>A (n.*2959C>A) c.*2627C>A (n.*2627C>A) c.*5163C>A (n.*5163C>A) c.*2582C>A (n.*2582C>A) c.4244C>A (p.Thr1415Asn) n.8071C>A c.4610C>A (p.Thr1537Asn) c.3887C>A (p.Thr1296Asn) c.2438C>A (p.Thr813Asn) | |
2 | g.165386834C>G | CA349036348 | SCN2A | c.4640C>G (p.Thr1547Ser) c.*2959C>G (n.*2959C>G) c.*2627C>G (n.*2627C>G) c.*5163C>G (n.*5163C>G) c.*2582C>G (n.*2582C>G) c.4244C>G (p.Thr1415Ser) n.8071C>G c.4610C>G (p.Thr1537Ser) c.3887C>G (p.Thr1296Ser) c.2438C>G (p.Thr813Ser) | ClinVar dbSNP |
2 | g.165386834C>T | CA349036349 | SCN2A | c.4640C>T (p.Thr1547Ile) c.*2959C>T (n.*2959C>T) c.*2627C>T (n.*2627C>T) c.*5163C>T (n.*5163C>T) c.*2582C>T (n.*2582C>T) c.4244C>T (p.Thr1415Ile) n.8071C>T c.4610C>T (p.Thr1537Ile) c.3887C>T (p.Thr1296Ile) c.2438C>T (p.Thr813Ile) | |
2 | g.165386835C>A | CA1940311 | SCN2A | c.4641C>A (p.Thr1547=) c.*2960C>A (n.*2960C>A) c.*2628C>A (n.*2628C>A) c.*5164C>A (n.*5164C>A) c.*2583C>A (n.*2583C>A) c.4245C>A (p.Thr1415=) n.8072C>A c.4611C>A (p.Thr1537=) c.3888C>A (p.Thr1296=) c.2439C>A (p.Thr813=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.165386835C= | CA1304563768 | SCN2A | c.4641C= (p.Thr1547=) c.*2960C= (n.*2960C=) c.*2628C= (n.*2628C=) c.*5164C= (n.*5164C=) c.*2583C= (n.*2583C=) c.4245C= (p.Thr1415=) n.8072C= c.4611C= (p.Thr1537=) c.3888C= (p.Thr1296=) c.2439C= (p.Thr813=) | |
2 | g.165386835C>G | CA429972562 | SCN2A | c.4641C>G (p.Thr1547=) c.*2960C>G (n.*2960C>G) c.*2628C>G (n.*2628C>G) c.*5164C>G (n.*5164C>G) c.*2583C>G (n.*2583C>G) c.4245C>G (p.Thr1415=) n.8072C>G c.4611C>G (p.Thr1537=) c.3888C>G (p.Thr1296=) c.2439C>G (p.Thr813=) | |
2 | g.165386835C>T | CA429972563 | SCN2A | c.4641C>T (p.Thr1547=) c.*2960C>T (n.*2960C>T) c.*2628C>T (n.*2628C>T) c.*5164C>T (n.*5164C>T) c.*2583C>T (n.*2583C>T) c.4245C>T (p.Thr1415=) n.8072C>T c.4611C>T (p.Thr1537=) c.3888C>T (p.Thr1296=) c.2439C>T (p.Thr813=) | |
2 | g.165386836A>C | CA349036350 | SCN2A | c.4642A>C (p.Met1548Leu) c.*2961A>C (n.*2961A>C) c.*2629A>C (n.*2629A>C) c.*5165A>C (n.*5165A>C) c.*2584A>C (n.*2584A>C) c.4246A>C (p.Met1416Leu) n.8073A>C c.4612A>C (p.Met1538Leu) c.3889A>C (p.Met1297Leu) c.2440A>C (p.Met814Leu) | |
2 | g.165386836A>G | CA349036351 | SCN2A | c.4642A>G (p.Met1548Val) c.*2961A>G (n.*2961A>G) c.*2629A>G (n.*2629A>G) c.*5165A>G (n.*5165A>G) c.*2584A>G (n.*2584A>G) c.4246A>G (p.Met1416Val) n.8073A>G c.4612A>G (p.Met1538Val) c.3889A>G (p.Met1297Val) c.2440A>G (p.Met814Val) | ClinVar |
2 | g.165386836A>T | CA349036352 | SCN2A | c.4642A>T (p.Met1548Leu) c.*2961A>T (n.*2961A>T) c.*2629A>T (n.*2629A>T) c.*5165A>T (n.*5165A>T) c.*2584A>T (n.*2584A>T) c.4246A>T (p.Met1416Leu) n.8073A>T c.4612A>T (p.Met1538Leu) c.3889A>T (p.Met1297Leu) c.2440A>T (p.Met814Leu) | |
2 | g.165386837T>A | CA349036354 | SCN2A | c.4643T>A (p.Met1548Lys) c.*2962T>A (n.*2962T>A) c.*2630T>A (n.*2630T>A) c.*5166T>A (n.*5166T>A) c.*2585T>A (n.*2585T>A) c.4247T>A (p.Met1416Lys) n.8074T>A c.4613T>A (p.Met1538Lys) c.3890T>A (p.Met1297Lys) c.2441T>A (p.Met814Lys) | |
2 | g.165386837T>C | CA16044310 | SCN2A | c.4643T>C (p.Met1548Thr) c.*2962T>C (n.*2962T>C) c.*2630T>C (n.*2630T>C) c.*5166T>C (n.*5166T>C) c.*2585T>C (n.*2585T>C) c.4247T>C (p.Met1416Thr) n.8074T>C c.4613T>C (p.Met1538Thr) c.3890T>C (p.Met1297Thr) c.2441T>C (p.Met814Thr) | ClinVar dbSNP |
2 | g.165386837T>G | CA349036353 | SCN2A | c.4643T>G (p.Met1548Arg) c.*2962T>G (n.*2962T>G) c.*2630T>G (n.*2630T>G) c.*5166T>G (n.*5166T>G) c.*2585T>G (n.*2585T>G) c.4247T>G (p.Met1416Arg) n.8074T>G c.4613T>G (p.Met1538Arg) c.3890T>G (p.Met1297Arg) c.2441T>G (p.Met814Arg) | |
2 | g.165386837T= | CA1304563769 | SCN2A | c.4643T= (p.Met1548=) c.*2962T= (n.*2962T=) c.*2630T= (n.*2630T=) c.*5166T= (n.*5166T=) c.*2585T= (n.*2585T=) c.4247T= (p.Met1416=) n.8074T= c.4613T= (p.Met1538=) c.3890T= (p.Met1297=) c.2441T= (p.Met814=) | |
2 | g.165386838G>A | CA349036355 | SCN2A | c.4644G>A (p.Met1548Ile) c.*2963G>A (n.*2963G>A) c.*2631G>A (n.*2631G>A) c.*5167G>A (n.*5167G>A) c.*2586G>A (n.*2586G>A) c.4248G>A (p.Met1416Ile) n.8075G>A c.4614G>A (p.Met1538Ile) c.3891G>A (p.Met1297Ile) c.2442G>A (p.Met814Ile) | |
2 | g.165386838G>C | CA349036356 | SCN2A | c.4644G>C (p.Met1548Ile) c.*2963G>C (n.*2963G>C) c.*2631G>C (n.*2631G>C) c.*5167G>C (n.*5167G>C) c.*2586G>C (n.*2586G>C) c.4248G>C (p.Met1416Ile) n.8075G>C c.4614G>C (p.Met1538Ile) c.3891G>C (p.Met1297Ile) c.2442G>C (p.Met814Ile) | ClinVar dbSNP |
2 | g.165386838G= | CA1304563770 | SCN2A | c.4644G= (p.Met1548=) c.*2963G= (n.*2963G=) c.*2631G= (n.*2631G=) c.*5167G= (n.*5167G=) c.*2586G= (n.*2586G=) c.4248G= (p.Met1416=) n.8075G= c.4614G= (p.Met1538=) c.3891G= (p.Met1297=) c.2442G= (p.Met814=) | |
2 | g.165386838G>T | CA349036357 | SCN2A | c.4644G>T (p.Met1548Ile) c.*2963G>T (n.*2963G>T) c.*2631G>T (n.*2631G>T) c.*5167G>T (n.*5167G>T) c.*2586G>T (n.*2586G>T) c.4248G>T (p.Met1416Ile) n.8075G>T c.4614G>T (p.Met1538Ile) c.3891G>T (p.Met1297Ile) c.2442G>T (p.Met814Ile) | |
2 | g.165386839A>C | CA349036358 | SCN2A | c.4645A>C (p.Met1549Leu) c.*2964A>C (n.*2964A>C) c.*2632A>C (n.*2632A>C) c.*5168A>C (n.*5168A>C) c.*2587A>C (n.*2587A>C) c.4249A>C (p.Met1417Leu) n.8076A>C c.4615A>C (p.Met1539Leu) c.3892A>C (p.Met1298Leu) c.2443A>C (p.Met815Leu) | |
2 | g.165386839A>G | CA349036359 | SCN2A | c.4645A>G (p.Met1549Val) c.*2964A>G (n.*2964A>G) c.*2632A>G (n.*2632A>G) c.*5168A>G (n.*5168A>G) c.*2587A>G (n.*2587A>G) c.4249A>G (p.Met1417Val) n.8076A>G c.4615A>G (p.Met1539Val) c.3892A>G (p.Met1298Val) c.2443A>G (p.Met815Val) | |
2 | g.165386839A>T | CA349036360 | SCN2A | c.4645A>T (p.Met1549Leu) c.*2964A>T (n.*2964A>T) c.*2632A>T (n.*2632A>T) c.*5168A>T (n.*5168A>T) c.*2587A>T (n.*2587A>T) c.4249A>T (p.Met1417Leu) n.8076A>T c.4615A>T (p.Met1539Leu) c.3892A>T (p.Met1298Leu) c.2443A>T (p.Met815Leu) | |
2 | g.165386840T>A | CA349036361 | SCN2A | c.4646T>A (p.Met1549Lys) c.*2965T>A (n.*2965T>A) c.*2633T>A (n.*2633T>A) c.*5169T>A (n.*5169T>A) c.*2588T>A (n.*2588T>A) c.4250T>A (p.Met1417Lys) n.8077T>A c.4616T>A (p.Met1539Lys) c.3893T>A (p.Met1298Lys) c.2444T>A (p.Met815Lys) | |
2 | g.165386840T>C | CA349036362 | SCN2A | c.4646T>C (p.Met1549Thr) c.*2965T>C (n.*2965T>C) c.*2633T>C (n.*2633T>C) c.*5169T>C (n.*5169T>C) c.*2588T>C (n.*2588T>C) c.4250T>C (p.Met1417Thr) n.8077T>C c.4616T>C (p.Met1539Thr) c.3893T>C (p.Met1298Thr) c.2444T>C (p.Met815Thr) | |
2 | g.165386840T>G | CA349036363 | SCN2A | c.4646T>G (p.Met1549Arg) c.*2965T>G (n.*2965T>G) c.*2633T>G (n.*2633T>G) c.*5169T>G (n.*5169T>G) c.*2588T>G (n.*2588T>G) c.4250T>G (p.Met1417Arg) n.8077T>G c.4616T>G (p.Met1539Arg) c.3893T>G (p.Met1298Arg) c.2444T>G (p.Met815Arg) | |
2 | g.165386841G>A | CA349036364 | SCN2A | c.4647G>A (p.Met1549Ile) c.*2966G>A (n.*2966G>A) c.*2634G>A (n.*2634G>A) c.*5170G>A (n.*5170G>A) c.*2589G>A (n.*2589G>A) c.4251G>A (p.Met1417Ile) n.8078G>A c.4617G>A (p.Met1539Ile) c.3894G>A (p.Met1298Ile) c.2445G>A (p.Met815Ile) | |
2 | g.165386841G>C | CA349036365 | SCN2A | c.4647G>C (p.Met1549Ile) c.*2966G>C (n.*2966G>C) c.*2634G>C (n.*2634G>C) c.*5170G>C (n.*5170G>C) c.*2589G>C (n.*2589G>C) c.4251G>C (p.Met1417Ile) n.8078G>C c.4617G>C (p.Met1539Ile) c.3894G>C (p.Met1298Ile) c.2445G>C (p.Met815Ile) | |
2 | g.165386841G= | CA1304563771 | SCN2A | c.4647G= (p.Met1549=) c.*2966G= (n.*2966G=) c.*2634G= (n.*2634G=) c.*5170G= (n.*5170G=) c.*2589G= (n.*2589G=) c.4251G= (p.Met1417=) n.8078G= c.4617G= (p.Met1539=) c.3894G= (p.Met1298=) c.2445G= (p.Met815=) | |
2 | g.165386841G>T | CA59750954 | SCN2A | c.4647G>T (p.Met1549Ile) c.*2966G>T (n.*2966G>T) c.*2634G>T (n.*2634G>T) c.*5170G>T (n.*5170G>T) c.*2589G>T (n.*2589G>T) c.4251G>T (p.Met1417Ile) n.8078G>T c.4617G>T (p.Met1539Ile) c.3894G>T (p.Met1298Ile) c.2445G>T (p.Met815Ile) | dbSNP |
2 | g.165386842del | CA2580064470 | SCN2A | c.4648del (p.Val1550TrpfsTer10) c.*2967del (n.*2967del) c.*2635del (n.*2635del) c.*5171del (n.*5171del) c.*2590del (n.*2590del) c.4252del (p.Val1418TrpfsTer10) n.8079del c.4618del (p.Val1540TrpfsTer10) c.3895del (p.Val1299TrpfsTer10) c.2446del (p.Val816TrpfsTer10) | ClinVar |
2 | g.165386842G>A | CA349036367 | SCN2A | c.4648G>A (p.Val1550Met) c.*2967G>A (n.*2967G>A) c.*2635G>A (n.*2635G>A) c.*5171G>A (n.*5171G>A) c.*2590G>A (n.*2590G>A) c.4252G>A (p.Val1418Met) n.8079G>A c.4618G>A (p.Val1540Met) c.3895G>A (p.Val1299Met) c.2446G>A (p.Val816Met) | |
2 | g.165386842G>C | CA349036368 | SCN2A | c.4648G>C (p.Val1550Leu) c.*2967G>C (n.*2967G>C) c.*2635G>C (n.*2635G>C) c.*5171G>C (n.*5171G>C) c.*2590G>C (n.*2590G>C) c.4252G>C (p.Val1418Leu) n.8079G>C c.4618G>C (p.Val1540Leu) c.3895G>C (p.Val1299Leu) c.2446G>C (p.Val816Leu) | |
2 | g.165386842G>T | CA349036366 | SCN2A | c.4648G>T (p.Val1550Leu) c.*2967G>T (n.*2967G>T) c.*2635G>T (n.*2635G>T) c.*5171G>T (n.*5171G>T) c.*2590G>T (n.*2590G>T) c.4252G>T (p.Val1418Leu) n.8079G>T c.4618G>T (p.Val1540Leu) c.3895G>T (p.Val1299Leu) c.2446G>T (p.Val816Leu) | |
2 | g.165386843T>A | CA349036369 | SCN2A | c.4649T>A (p.Val1550Glu) c.*2968T>A (n.*2968T>A) c.*2636T>A (n.*2636T>A) c.*5172T>A (n.*5172T>A) c.*2591T>A (n.*2591T>A) c.4253T>A (p.Val1418Glu) n.8080T>A c.4619T>A (p.Val1540Glu) c.3896T>A (p.Val1299Glu) c.2447T>A (p.Val816Glu) | |
2 | g.165386843T>C | CA349036370 | SCN2A | c.4649T>C (p.Val1550Ala) c.*2968T>C (n.*2968T>C) c.*2636T>C (n.*2636T>C) c.*5172T>C (n.*5172T>C) c.*2591T>C (n.*2591T>C) c.4253T>C (p.Val1418Ala) n.8080T>C c.4619T>C (p.Val1540Ala) c.3896T>C (p.Val1299Ala) c.2447T>C (p.Val816Ala) | |
2 | g.165386843T>G | CA349036371 | SCN2A | c.4649T>G (p.Val1550Gly) c.*2968T>G (n.*2968T>G) c.*2636T>G (n.*2636T>G) c.*5172T>G (n.*5172T>G) c.*2591T>G (n.*2591T>G) c.4253T>G (p.Val1418Gly) n.8080T>G c.4619T>G (p.Val1540Gly) c.3896T>G (p.Val1299Gly) c.2447T>G (p.Val816Gly) | |
2 | g.165386844G>A | CA429972583 | SCN2A | c.4650G>A (p.Val1550=) c.*2969G>A (n.*2969G>A) c.*2637G>A (n.*2637G>A) c.*5173G>A (n.*5173G>A) c.*2592G>A (n.*2592G>A) c.4254G>A (p.Val1418=) n.8081G>A c.4620G>A (p.Val1540=) c.3897G>A (p.Val1299=) c.2448G>A (p.Val816=) | gnomAD v4 |
2 | g.165386844G>C | CA429972586 | SCN2A | c.4650G>C (p.Val1550=) c.*2969G>C (n.*2969G>C) c.*2637G>C (n.*2637G>C) c.*5173G>C (n.*5173G>C) c.*2592G>C (n.*2592G>C) c.4254G>C (p.Val1418=) n.8081G>C c.4620G>C (p.Val1540=) c.3897G>C (p.Val1299=) c.2448G>C (p.Val816=) | |
2 | g.165386844G>T | CA429972588 | SCN2A | c.4650G>T (p.Val1550=) c.*2969G>T (n.*2969G>T) c.*2637G>T (n.*2637G>T) c.*5173G>T (n.*5173G>T) c.*2592G>T (n.*2592G>T) c.4254G>T (p.Val1418=) n.8081G>T c.4620G>T (p.Val1540=) c.3897G>T (p.Val1299=) c.2448G>T (p.Val816=) | |
2 | g.165386845G>A | CA349036372 | SCN2A | c.4651G>A (p.Glu1551Lys) c.*2970G>A (n.*2970G>A) c.*2638G>A (n.*2638G>A) c.*5174G>A (n.*5174G>A) c.*2593G>A (n.*2593G>A) c.4255G>A (p.Glu1419Lys) n.8082G>A c.4621G>A (p.Glu1541Lys) c.3898G>A (p.Glu1300Lys) c.2449G>A (p.Glu817Lys) | |
2 | g.165386845G>C | CA349036373 | SCN2A | c.4651G>C (p.Glu1551Gln) c.*2970G>C (n.*2970G>C) c.*2638G>C (n.*2638G>C) c.*5174G>C (n.*5174G>C) c.*2593G>C (n.*2593G>C) c.4255G>C (p.Glu1419Gln) n.8082G>C c.4621G>C (p.Glu1541Gln) c.3898G>C (p.Glu1300Gln) c.2449G>C (p.Glu817Gln) | |
2 | g.165386845G= | CA1304563772 | SCN2A | c.4651G= (p.Glu1551=) c.*2970G= (n.*2970G=) c.*2638G= (n.*2638G=) c.*5174G= (n.*5174G=) c.*2593G= (n.*2593G=) c.4255G= (p.Glu1419=) n.8082G= c.4621G= (p.Glu1541=) c.3898G= (p.Glu1300=) c.2449G= (p.Glu817=) | |
2 | g.165386845G>T | CA349036374 | SCN2A | c.4651G>T (p.Glu1551Ter) c.*2970G>T (n.*2970G>T) c.*2638G>T (n.*2638G>T) c.*5174G>T (n.*5174G>T) c.*2593G>T (n.*2593G>T) c.4255G>T (p.Glu1419Ter) n.8082G>T c.4621G>T (p.Glu1541Ter) c.3898G>T (p.Glu1300Ter) c.2449G>T (p.Glu817Ter) | dbSNP |
2 | g.165386846A>C | CA349036375 | SCN2A | c.4652A>C (p.Glu1551Ala) c.*2971A>C (n.*2971A>C) c.*2639A>C (n.*2639A>C) c.*5175A>C (n.*5175A>C) c.*2594A>C (n.*2594A>C) c.4256A>C (p.Glu1419Ala) n.8083A>C c.4622A>C (p.Glu1541Ala) c.3899A>C (p.Glu1300Ala) c.2450A>C (p.Glu817Ala) | ClinVar |
2 | g.165386846A>G | CA349036376 | SCN2A | c.4652A>G (p.Glu1551Gly) c.*2971A>G (n.*2971A>G) c.*2639A>G (n.*2639A>G) c.*5175A>G (n.*5175A>G) c.*2594A>G (n.*2594A>G) c.4256A>G (p.Glu1419Gly) n.8083A>G c.4622A>G (p.Glu1541Gly) c.3899A>G (p.Glu1300Gly) c.2450A>G (p.Glu817Gly) | |
2 | g.165386846A>T | CA349036377 | SCN2A | c.4652A>T (p.Glu1551Val) c.*2971A>T (n.*2971A>T) c.*2639A>T (n.*2639A>T) c.*5175A>T (n.*5175A>T) c.*2594A>T (n.*2594A>T) c.4256A>T (p.Glu1419Val) n.8083A>T c.4622A>T (p.Glu1541Val) c.3899A>T (p.Glu1300Val) c.2450A>T (p.Glu817Val) | |
2 | g.165386847A>C | CA349036378 | SCN2A | c.4653A>C (p.Glu1551Asp) c.*2972A>C (n.*2972A>C) c.*2640A>C (n.*2640A>C) c.*5176A>C (n.*5176A>C) c.*2595A>C (n.*2595A>C) c.4257A>C (p.Glu1419Asp) n.8084A>C c.4623A>C (p.Glu1541Asp) c.3900A>C (p.Glu1300Asp) c.2451A>C (p.Glu817Asp) | |
2 | g.165386847A>G | CA429972594 | SCN2A | c.4653A>G (p.Glu1551=) c.*2972A>G (n.*2972A>G) c.*2640A>G (n.*2640A>G) c.*5176A>G (n.*5176A>G) c.*2595A>G (n.*2595A>G) c.4257A>G (p.Glu1419=) n.8084A>G c.4623A>G (p.Glu1541=) c.3900A>G (p.Glu1300=) c.2451A>G (p.Glu817=) | |
2 | g.165386847A>T | CA349036379 | SCN2A | c.4653A>T (p.Glu1551Asp) c.*2972A>T (n.*2972A>T) c.*2640A>T (n.*2640A>T) c.*5176A>T (n.*5176A>T) c.*2595A>T (n.*2595A>T) c.4257A>T (p.Glu1419Asp) n.8084A>T c.4623A>T (p.Glu1541Asp) c.3900A>T (p.Glu1300Asp) c.2451A>T (p.Glu817Asp) | |
2 | g.165386848A>C | CA349036380 | SCN2A | c.4654A>C (p.Thr1552Pro) c.*2973A>C (n.*2973A>C) c.*2641A>C (n.*2641A>C) c.*5177A>C (n.*5177A>C) c.*2596A>C (n.*2596A>C) c.4258A>C (p.Thr1420Pro) n.8085A>C c.4624A>C (p.Thr1542Pro) c.3901A>C (p.Thr1301Pro) c.2452A>C (p.Thr818Pro) | |
2 | g.165386848A>G | CA349036382 | SCN2A | c.4654A>G (p.Thr1552Ala) c.*2973A>G (n.*2973A>G) c.*2641A>G (n.*2641A>G) c.*5177A>G (n.*5177A>G) c.*2596A>G (n.*2596A>G) c.4258A>G (p.Thr1420Ala) n.8085A>G c.4624A>G (p.Thr1542Ala) c.3901A>G (p.Thr1301Ala) c.2452A>G (p.Thr818Ala) | ClinVar |
2 | g.165386848A>T | CA349036383 | SCN2A | c.4654A>T (p.Thr1552Ser) c.*2973A>T (n.*2973A>T) c.*2641A>T (n.*2641A>T) c.*5177A>T (n.*5177A>T) c.*2596A>T (n.*2596A>T) c.4258A>T (p.Thr1420Ser) n.8085A>T c.4624A>T (p.Thr1542Ser) c.3901A>T (p.Thr1301Ser) c.2452A>T (p.Thr818Ser) | |
2 | g.165386849C>A | CA349036388 | SCN2A | c.4655C>A (p.Thr1552Asn) c.*2974C>A (n.*2974C>A) c.*2642C>A (n.*2642C>A) c.*5178C>A (n.*5178C>A) c.*2597C>A (n.*2597C>A) c.4259C>A (p.Thr1420Asn) n.8086C>A c.4625C>A (p.Thr1542Asn) c.3902C>A (p.Thr1301Asn) c.2453C>A (p.Thr818Asn) | |
2 | g.165386849C>G | CA349036386 | SCN2A | c.4655C>G (p.Thr1552Ser) c.*2974C>G (n.*2974C>G) c.*2642C>G (n.*2642C>G) c.*5178C>G (n.*5178C>G) c.*2597C>G (n.*2597C>G) c.4259C>G (p.Thr1420Ser) n.8086C>G c.4625C>G (p.Thr1542Ser) c.3902C>G (p.Thr1301Ser) c.2453C>G (p.Thr818Ser) | |
2 | g.165386849C>T | CA349036385 | SCN2A | c.4655C>T (p.Thr1552Ile) c.*2974C>T (n.*2974C>T) c.*2642C>T (n.*2642C>T) c.*5178C>T (n.*5178C>T) c.*2597C>T (n.*2597C>T) c.4259C>T (p.Thr1420Ile) n.8086C>T c.4625C>T (p.Thr1542Ile) c.3902C>T (p.Thr1301Ile) c.2453C>T (p.Thr818Ile) | ClinVar |
2 | g.165386850C>A | CA429972599 | SCN2A | c.4656C>A (p.Thr1552=) c.*2975C>A (n.*2975C>A) c.*2643C>A (n.*2643C>A) c.*5179C>A (n.*5179C>A) c.*2598C>A (n.*2598C>A) c.4260C>A (p.Thr1420=) n.8087C>A c.4626C>A (p.Thr1542=) c.3903C>A (p.Thr1301=) c.2454C>A (p.Thr818=) | gnomAD v4 COSMIC COSMIC |
2 | g.165386850C= | CA1304563773 | SCN2A | c.4656C= (p.Thr1552=) c.*2975C= (n.*2975C=) c.*2643C= (n.*2643C=) c.*5179C= (n.*5179C=) c.*2598C= (n.*2598C=) c.4260C= (p.Thr1420=) n.8087C= c.4626C= (p.Thr1542=) c.3903C= (p.Thr1301=) c.2454C= (p.Thr818=) | |
2 | g.165386850C>G | CA1940312 | SCN2A | c.4656C>G (p.Thr1552=) c.*2975C>G (n.*2975C>G) c.*2643C>G (n.*2643C>G) c.*5179C>G (n.*5179C>G) c.*2598C>G (n.*2598C>G) c.4260C>G (p.Thr1420=) n.8087C>G c.4626C>G (p.Thr1542=) c.3903C>G (p.Thr1301=) c.2454C>G (p.Thr818=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.165386850C>T | CA1940313 | SCN2A | c.4656C>T (p.Thr1552=) c.*2975C>T (n.*2975C>T) c.*2643C>T (n.*2643C>T) c.*5179C>T (n.*5179C>T) c.*2598C>T (n.*2598C>T) c.4260C>T (p.Thr1420=) n.8087C>T c.4626C>T (p.Thr1542=) c.3903C>T (p.Thr1301=) c.2454C>T (p.Thr818=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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) |