Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.165344612_165344622delinsATTGGCAATTC | CA1304545460 | SCN2A | c.2620_2630delinsATTGGCAATTC (p.Ile874=) c.*939_*949delinsATTGGCAATTC (n.*939_*949delinsATTGGCAATTC) c.*607_*617delinsATTGGCAATTC (n.*607_*617delinsATTGGCAATTC) c.*3143_*3153delinsATTGGCAATTC (n.*3143_*3153delinsATTGGCAATTC) c.*562_*572delinsATTGGCAATTC (n.*562_*572delinsATTGGCAATTC) c.2224_2234delinsATTGGCAATTC (p.Ile742=) c.58_68delinsATTGGCAATTC (p.Ile20=) c.471_481delinsATTGGCAATTC n.2763_2773delinsATTGGCAATTC c.2590_2600delinsATTGGCAATTC (p.Ile864=) c.1867_1877delinsATTGGCAATTC (p.Ile623=) c.418_428delinsATTGGCAATTC (p.Ile140=) | |
2 | g.165344614_165344623del | CA16617265 | SCN2A | c.2622_2631del (p.Ile874MetfsTer5) c.*941_*950del (n.*941_*950del) c.*609_*618del (n.*609_*618del) c.*3145_*3154del (n.*3145_*3154del) c.*564_*573del (n.*564_*573del) c.2226_2235del (p.Ile742MetfsTer5) c.60_69del (p.Ile20MetfsTer5) c.473_482del n.2765_2774del c.2592_2601del (p.Ile864MetfsTer5) c.1869_1878del (p.Ile623MetfsTer5) c.420_429del (p.Ile140MetfsTer5) | ClinVar dbSNP |
2 | g.165344622C>A | CA349013406 | SCN2A | c.2630C>A (p.Ser877Tyr) c.*949C>A (n.*949C>A) c.*617C>A (n.*617C>A) c.*3153C>A (n.*3153C>A) c.*572C>A (n.*572C>A) c.2234C>A (p.Ser745Tyr) c.68C>A (p.Ser23Tyr) c.481C>A n.2773C>A c.2600C>A (p.Ser867Tyr) c.1877C>A (p.Ser626Tyr) c.428C>A (p.Ser143Tyr) | |
2 | g.165344622C>G | CA349013408 | SCN2A | c.2630C>G (p.Ser877Cys) c.*949C>G (n.*949C>G) c.*617C>G (n.*617C>G) c.*3153C>G (n.*3153C>G) c.*572C>G (n.*572C>G) c.2234C>G (p.Ser745Cys) c.68C>G (p.Ser23Cys) c.481C>G n.2773C>G c.2600C>G (p.Ser867Cys) c.1877C>G (p.Ser626Cys) c.428C>G (p.Ser143Cys) | |
2 | g.165344622C>T | CA349013409 | SCN2A | c.2630C>T (p.Ser877Phe) c.*949C>T (n.*949C>T) c.*617C>T (n.*617C>T) c.*3153C>T (n.*3153C>T) c.*572C>T (n.*572C>T) c.2234C>T (p.Ser745Phe) c.68C>T (p.Ser23Phe) c.481C>T n.2773C>T c.2600C>T (p.Ser867Phe) c.1877C>T (p.Ser626Phe) c.428C>T (p.Ser143Phe) | |
2 | g.165344623T>A | CA429885374 | SCN2A | c.2631T>A (p.Ser877=) c.*950T>A (n.*950T>A) c.*618T>A (n.*618T>A) c.*3154T>A (n.*3154T>A) c.*573T>A (n.*573T>A) c.2235T>A (p.Ser745=) c.69T>A (p.Ser23=) c.482T>A n.2774T>A c.2601T>A (p.Ser867=) c.1878T>A (p.Ser626=) c.429T>A (p.Ser143=) | |
2 | g.165344623T>C | CA429885375 | SCN2A | c.2631T>C (p.Ser877=) c.*950T>C (n.*950T>C) c.*618T>C (n.*618T>C) c.*3154T>C (n.*3154T>C) c.*573T>C (n.*573T>C) c.2235T>C (p.Ser745=) c.69T>C (p.Ser23=) c.482T>C n.2774T>C c.2601T>C (p.Ser867=) c.1878T>C (p.Ser626=) c.429T>C (p.Ser143=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165344623T>G | CA429885376 | SCN2A | c.2631T>G (p.Ser877=) c.*950T>G (n.*950T>G) c.*618T>G (n.*618T>G) c.*3154T>G (n.*3154T>G) c.*573T>G (n.*573T>G) c.2235T>G (p.Ser745=) c.69T>G (p.Ser23=) c.482T>G n.2774T>G c.2601T>G (p.Ser867=) c.1878T>G (p.Ser626=) c.429T>G (p.Ser143=) | |
2 | g.165344623T= | CA1304545465 | SCN2A | c.2631T= (p.Ser877=) c.*950T= (n.*950T=) c.*618T= (n.*618T=) c.*3154T= (n.*3154T=) c.*573T= (n.*573T=) c.2235T= (p.Ser745=) c.69T= (p.Ser23=) c.482T= n.2774T= c.2601T= (p.Ser867=) c.1878T= (p.Ser626=) c.429T= (p.Ser143=) | |
2 | g.165344624G>A | CA349013412 | SCN2A | c.2632G>A (p.Val878Met) c.*951G>A (n.*951G>A) c.*619G>A (n.*619G>A) c.*3155G>A (n.*3155G>A) c.*574G>A (n.*574G>A) c.2236G>A (p.Val746Met) c.70G>A (p.Val24Met) c.483G>A n.2775G>A c.2602G>A (p.Val868Met) c.1879G>A (p.Val627Met) c.430G>A (p.Val144Met) | dbSNP |
2 | g.165344624G>C | CA349013414 | SCN2A | c.2632G>C (p.Val878Leu) c.*951G>C (n.*951G>C) c.*619G>C (n.*619G>C) c.*3155G>C (n.*3155G>C) c.*574G>C (n.*574G>C) c.2236G>C (p.Val746Leu) c.70G>C (p.Val24Leu) c.483G>C n.2775G>C c.2602G>C (p.Val868Leu) c.1879G>C (p.Val627Leu) c.430G>C (p.Val144Leu) | |
2 | g.165344624G= | CA1304545466 | SCN2A | c.2632G= (p.Val878=) c.*951G= (n.*951G=) c.*619G= (n.*619G=) c.*3155G= (n.*3155G=) c.*574G= (n.*574G=) c.2236G= (p.Val746=) c.70G= (p.Val24=) c.483G= n.2775G= c.2602G= (p.Val868=) c.1879G= (p.Val627=) c.430G= (p.Val144=) | |
2 | g.165344624G>T | CA349013416 | SCN2A | c.2632G>T (p.Val878Leu) c.*951G>T (n.*951G>T) c.*619G>T (n.*619G>T) c.*3155G>T (n.*3155G>T) c.*574G>T (n.*574G>T) c.2236G>T (p.Val746Leu) c.70G>T (p.Val24Leu) c.483G>T n.2775G>T c.2602G>T (p.Val868Leu) c.1879G>T (p.Val627Leu) c.430G>T (p.Val144Leu) | |
2 | g.165344625T>A | CA349013418 | SCN2A | c.2633T>A (p.Val878Glu) c.*952T>A (n.*952T>A) c.*620T>A (n.*620T>A) c.*3156T>A (n.*3156T>A) c.*575T>A (n.*575T>A) c.2237T>A (p.Val746Glu) c.71T>A (p.Val24Glu) c.484T>A n.2776T>A c.2603T>A (p.Val868Glu) c.1880T>A (p.Val627Glu) c.431T>A (p.Val144Glu) | |
2 | g.165344625T>C | CA349013419 | SCN2A | c.2633T>C (p.Val878Ala) c.*952T>C (n.*952T>C) c.*620T>C (n.*620T>C) c.*3156T>C (n.*3156T>C) c.*575T>C (n.*575T>C) c.2237T>C (p.Val746Ala) c.71T>C (p.Val24Ala) c.484T>C n.2776T>C c.2603T>C (p.Val868Ala) c.1880T>C (p.Val627Ala) c.431T>C (p.Val144Ala) | |
2 | g.165344625T>G | CA349013420 | SCN2A | c.2633T>G (p.Val878Gly) c.*952T>G (n.*952T>G) c.*620T>G (n.*620T>G) c.*3156T>G (n.*3156T>G) c.*575T>G (n.*575T>G) c.2237T>G (p.Val746Gly) c.71T>G (p.Val24Gly) c.484T>G n.2776T>G c.2603T>G (p.Val868Gly) c.1880T>G (p.Val627Gly) c.431T>G (p.Val144Gly) | |
2 | g.165344626G>A | CA429885377 | SCN2A | c.2634G>A (p.Val878=) c.*953G>A (n.*953G>A) c.*621G>A (n.*621G>A) c.*3157G>A (n.*3157G>A) c.*576G>A (n.*576G>A) c.2238G>A (p.Val746=) c.72G>A (p.Val24=) c.485G>A n.2777G>A c.2604G>A (p.Val868=) c.1881G>A (p.Val627=) c.432G>A (p.Val144=) | |
2 | g.165344626G>C | CA429885378 | SCN2A | c.2634G>C (p.Val878=) c.*953G>C (n.*953G>C) c.*621G>C (n.*621G>C) c.*3157G>C (n.*3157G>C) c.*576G>C (n.*576G>C) c.2238G>C (p.Val746=) c.72G>C (p.Val24=) c.485G>C n.2777G>C c.2604G>C (p.Val868=) c.1881G>C (p.Val627=) c.432G>C (p.Val144=) | |
2 | g.165344626G>T | CA429885379 | SCN2A | c.2634G>T (p.Val878=) c.*953G>T (n.*953G>T) c.*621G>T (n.*621G>T) c.*3157G>T (n.*3157G>T) c.*576G>T (n.*576G>T) c.2238G>T (p.Val746=) c.72G>T (p.Val24=) c.485G>T n.2777G>T c.2604G>T (p.Val868=) c.1881G>T (p.Val627=) c.432G>T (p.Val144=) | |
2 | g.165344626_165344627delinsTC | CA2580064222 | SCN2A | c.2634_2635delinsTC (p.Gly879Arg) c.*953_*954delinsTC (n.*953_*954delinsTC) c.*621_*622delinsTC (n.*621_*622delinsTC) c.*3157_*3158delinsTC (n.*3157_*3158delinsTC) c.*576_*577delinsTC (n.*576_*577delinsTC) c.2238_2239delinsTC (p.Gly747Arg) c.72_73delinsTC (p.Gly25Arg) c.485_486delinsTC n.2777_2778delinsTC c.2604_2605delinsTC (p.Gly869Arg) c.1881_1882delinsTC (p.Gly628Arg) c.432_433delinsTC (p.Gly145Arg) | ClinVar |
2 | g.165344627G>A | CA317877 | SCN2A | c.2635G>A (p.Gly879Arg) c.*954G>A (n.*954G>A) c.*622G>A (n.*622G>A) c.*3158G>A (n.*3158G>A) c.*577G>A (n.*577G>A) c.2239G>A (p.Gly747Arg) c.73G>A (p.Gly25Arg) c.486G>A n.2778G>A c.2605G>A (p.Gly869Arg) c.1882G>A (p.Gly628Arg) c.433G>A (p.Gly145Arg) | ClinVar dbSNP |
2 | g.165344627G>C | CA349013421 | SCN2A | c.2635G>C (p.Gly879Arg) c.*954G>C (n.*954G>C) c.*622G>C (n.*622G>C) c.*3158G>C (n.*3158G>C) c.*577G>C (n.*577G>C) c.2239G>C (p.Gly747Arg) c.73G>C (p.Gly25Arg) c.486G>C n.2778G>C c.2605G>C (p.Gly869Arg) c.1882G>C (p.Gly628Arg) c.433G>C (p.Gly145Arg) | |
2 | g.165344627G= | CA1304545467 | SCN2A | c.2635G= (p.Gly879=) c.*954G= (n.*954G=) c.*622G= (n.*622G=) c.*3158G= (n.*3158G=) c.*577G= (n.*577G=) c.2239G= (p.Gly747=) c.73G= (p.Gly25=) c.486G= n.2778G= c.2605G= (p.Gly869=) c.1882G= (p.Gly628=) c.433G= (p.Gly145=) | |
2 | g.165344627G>T | CA349013422 | SCN2A | c.2635G>T (p.Gly879Trp) c.*954G>T (n.*954G>T) c.*622G>T (n.*622G>T) c.*3158G>T (n.*3158G>T) c.*577G>T (n.*577G>T) c.2239G>T (p.Gly747Trp) c.73G>T (p.Gly25Trp) c.486G>T n.2778G>T c.2605G>T (p.Gly869Trp) c.1882G>T (p.Gly628Trp) c.433G>T (p.Gly145Trp) | |
2 | g.165344628G>A | CA349013427 | SCN2A | c.2636G>A (p.Gly879Glu) c.*955G>A (n.*955G>A) c.*623G>A (n.*623G>A) c.*3159G>A (n.*3159G>A) c.*578G>A (n.*578G>A) c.2240G>A (p.Gly747Glu) c.74G>A (p.Gly25Glu) c.487G>A n.2779G>A c.2606G>A (p.Gly869Glu) c.1883G>A (p.Gly628Glu) c.434G>A (p.Gly145Glu) | COSMIC COSMIC |
2 | g.165344628G>C | CA349013425 | SCN2A | c.2636G>C (p.Gly879Ala) c.*955G>C (n.*955G>C) c.*623G>C (n.*623G>C) c.*3159G>C (n.*3159G>C) c.*578G>C (n.*578G>C) c.2240G>C (p.Gly747Ala) c.74G>C (p.Gly25Ala) c.487G>C n.2779G>C c.2606G>C (p.Gly869Ala) c.1883G>C (p.Gly628Ala) c.434G>C (p.Gly145Ala) | ClinVar dbSNP |
2 | g.165344628G= | CA1304545468 | SCN2A | c.2636G= (p.Gly879=) c.*955G= (n.*955G=) c.*623G= (n.*623G=) c.*3159G= (n.*3159G=) c.*578G= (n.*578G=) c.2240G= (p.Gly747=) c.74G= (p.Gly25=) c.487G= n.2779G= c.2606G= (p.Gly869=) c.1883G= (p.Gly628=) c.434G= (p.Gly145=) | |
2 | g.165344628G>T | CA349013426 | SCN2A | c.2636G>T (p.Gly879Val) c.*955G>T (n.*955G>T) c.*623G>T (n.*623G>T) c.*3159G>T (n.*3159G>T) c.*578G>T (n.*578G>T) c.2240G>T (p.Gly747Val) c.74G>T (p.Gly25Val) c.487G>T n.2779G>T c.2606G>T (p.Gly869Val) c.1883G>T (p.Gly628Val) c.434G>T (p.Gly145Val) | ClinVar dbSNP |
2 | g.165344629G>A | CA429885380 | SCN2A | c.2637G>A (p.Gly879=) c.*956G>A (n.*956G>A) c.*624G>A (n.*624G>A) c.*3160G>A (n.*3160G>A) c.*579G>A (n.*579G>A) c.2241G>A (p.Gly747=) c.75G>A (p.Gly25=) c.488G>A n.2780G>A c.2607G>A (p.Gly869=) c.1884G>A (p.Gly628=) c.435G>A (p.Gly145=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.165344629G>C | CA429885381 | SCN2A | c.2637G>C (p.Gly879=) c.*956G>C (n.*956G>C) c.*624G>C (n.*624G>C) c.*3160G>C (n.*3160G>C) c.*579G>C (n.*579G>C) c.2241G>C (p.Gly747=) c.75G>C (p.Gly25=) c.488G>C n.2780G>C c.2607G>C (p.Gly869=) c.1884G>C (p.Gly628=) c.435G>C (p.Gly145=) | ClinVar dbSNP |
2 | g.165344629G= | CA1304545469 | SCN2A | c.2637G= (p.Gly879=) c.*956G= (n.*956G=) c.*624G= (n.*624G=) c.*3160G= (n.*3160G=) c.*579G= (n.*579G=) c.2241G= (p.Gly747=) c.75G= (p.Gly25=) c.488G= n.2780G= c.2607G= (p.Gly869=) c.1884G= (p.Gly628=) c.435G= (p.Gly145=) | |
2 | g.165344629G>T | CA429885382 | SCN2A | c.2637G>T (p.Gly879=) c.*956G>T (n.*956G>T) c.*624G>T (n.*624G>T) c.*3160G>T (n.*3160G>T) c.*579G>T (n.*579G>T) c.2241G>T (p.Gly747=) c.75G>T (p.Gly25=) c.488G>T n.2780G>T c.2607G>T (p.Gly869=) c.1884G>T (p.Gly628=) c.435G>T (p.Gly145=) | ClinVar |
2 | g.165344630G>A | CA349013428 | SCN2A | c.2638G>A (p.Ala880Thr) c.*957G>A (n.*957G>A) c.*625G>A (n.*625G>A) c.*3161G>A (n.*3161G>A) c.*580G>A (n.*580G>A) c.2242G>A (p.Ala748Thr) c.76G>A (p.Ala26Thr) c.489G>A n.2781G>A c.2608G>A (p.Ala870Thr) c.1885G>A (p.Ala629Thr) c.436G>A (p.Ala146Thr) | ClinVar dbSNP |
2 | g.165344630G>C | CA349013429 | SCN2A | c.2638G>C (p.Ala880Pro) c.*957G>C (n.*957G>C) c.*625G>C (n.*625G>C) c.*3161G>C (n.*3161G>C) c.*580G>C (n.*580G>C) c.2242G>C (p.Ala748Pro) c.76G>C (p.Ala26Pro) c.489G>C n.2781G>C c.2608G>C (p.Ala870Pro) c.1885G>C (p.Ala629Pro) c.436G>C (p.Ala146Pro) | |
2 | g.165344630G= | CA1304545470 | SCN2A | c.2638G= (p.Ala880=) c.*957G= (n.*957G=) c.*625G= (n.*625G=) c.*3161G= (n.*3161G=) c.*580G= (n.*580G=) c.2242G= (p.Ala748=) c.76G= (p.Ala26=) c.489G= n.2781G= c.2608G= (p.Ala870=) c.1885G= (p.Ala629=) c.436G= (p.Ala146=) | |
2 | g.165344630G>T | CA349013430 | SCN2A | c.2638G>T (p.Ala880Ser) c.*957G>T (n.*957G>T) c.*625G>T (n.*625G>T) c.*3161G>T (n.*3161G>T) c.*580G>T (n.*580G>T) c.2242G>T (p.Ala748Ser) c.76G>T (p.Ala26Ser) c.489G>T n.2781G>T c.2608G>T (p.Ala870Ser) c.1885G>T (p.Ala629Ser) c.436G>T (p.Ala146Ser) | ClinVar dbSNP |
2 | g.165344631del | CA2753007923 | SCN2A | c.2639del (p.Ala880ValfsTer2) c.*958del (n.*958del) c.*626del (n.*626del) c.*3162del (n.*3162del) c.*581del (n.*581del) c.2243del (p.Ala748ValfsTer2) c.77del (p.Ala26ValfsTer2) c.490del n.2782del c.2609del (p.Ala870ValfsTer2) c.1886del (p.Ala629ValfsTer2) c.437del (p.Ala146ValfsTer2) | |
2 | g.165344631C>A | CA349013433 | SCN2A | c.2639C>A (p.Ala880Asp) c.*958C>A (n.*958C>A) c.*626C>A (n.*626C>A) c.*3162C>A (n.*3162C>A) c.*581C>A (n.*581C>A) c.2243C>A (p.Ala748Asp) c.77C>A (p.Ala26Asp) c.490C>A n.2782C>A c.2609C>A (p.Ala870Asp) c.1886C>A (p.Ala629Asp) c.437C>A (p.Ala146Asp) | |
2 | g.165344631C>G | CA349013434 | SCN2A | c.2639C>G (p.Ala880Gly) c.*958C>G (n.*958C>G) c.*626C>G (n.*626C>G) c.*3162C>G (n.*3162C>G) c.*581C>G (n.*581C>G) c.2243C>G (p.Ala748Gly) c.77C>G (p.Ala26Gly) c.490C>G n.2782C>G c.2609C>G (p.Ala870Gly) c.1886C>G (p.Ala629Gly) c.437C>G (p.Ala146Gly) | |
2 | g.165344631C>T | CA349013436 | SCN2A | c.2639C>T (p.Ala880Val) c.*958C>T (n.*958C>T) c.*626C>T (n.*626C>T) c.*3162C>T (n.*3162C>T) c.*581C>T (n.*581C>T) c.2243C>T (p.Ala748Val) c.77C>T (p.Ala26Val) c.490C>T n.2782C>T c.2609C>T (p.Ala870Val) c.1886C>T (p.Ala629Val) c.437C>T (p.Ala146Val) | |
2 | g.165344632T>A | CA429885383 | SCN2A | c.2640T>A (p.Ala880=) c.*959T>A (n.*959T>A) c.*627T>A (n.*627T>A) c.*3163T>A (n.*3163T>A) c.*582T>A (n.*582T>A) c.2244T>A (p.Ala748=) c.78T>A (p.Ala26=) c.491T>A n.2783T>A c.2610T>A (p.Ala870=) c.1887T>A (p.Ala629=) c.438T>A (p.Ala146=) | |
2 | g.165344632T>C | CA429885384 | SCN2A | c.2640T>C (p.Ala880=) c.*959T>C (n.*959T>C) c.*627T>C (n.*627T>C) c.*3163T>C (n.*3163T>C) c.*582T>C (n.*582T>C) c.2244T>C (p.Ala748=) c.78T>C (p.Ala26=) c.491T>C n.2783T>C c.2610T>C (p.Ala870=) c.1887T>C (p.Ala629=) c.438T>C (p.Ala146=) | |
2 | g.165344632T>G | CA429885385 | SCN2A | c.2640T>G (p.Ala880=) c.*959T>G (n.*959T>G) c.*627T>G (n.*627T>G) c.*3163T>G (n.*3163T>G) c.*582T>G (n.*582T>G) c.2244T>G (p.Ala748=) c.78T>G (p.Ala26=) c.491T>G n.2783T>G c.2610T>G (p.Ala870=) c.1887T>G (p.Ala629=) c.438T>G (p.Ala146=) | |
2 | g.165344633C>A | CA349013438 | SCN2A | c.2641C>A (p.Leu881Ile) c.*960C>A (n.*960C>A) c.*628C>A (n.*628C>A) c.*3164C>A (n.*3164C>A) c.*583C>A (n.*583C>A) c.2245C>A (p.Leu749Ile) c.79C>A (p.Leu27Ile) c.492C>A n.2784C>A c.2611C>A (p.Leu871Ile) c.1888C>A (p.Leu630Ile) c.439C>A (p.Leu147Ile) | |
2 | g.165344633C= | CA1304545471 | SCN2A | c.2641C= (p.Leu881=) c.*960C= (n.*960C=) c.*628C= (n.*628C=) c.*3164C= (n.*3164C=) c.*583C= (n.*583C=) c.2245C= (p.Leu749=) c.79C= (p.Leu27=) c.492C= n.2784C= c.2611C= (p.Leu871=) c.1888C= (p.Leu630=) c.439C= (p.Leu147=) | |
2 | g.165344633C>G | CA349013440 | SCN2A | c.2641C>G (p.Leu881Val) c.*960C>G (n.*960C>G) c.*628C>G (n.*628C>G) c.*3164C>G (n.*3164C>G) c.*583C>G (n.*583C>G) c.2245C>G (p.Leu749Val) c.79C>G (p.Leu27Val) c.492C>G n.2784C>G c.2611C>G (p.Leu871Val) c.1888C>G (p.Leu630Val) c.439C>G (p.Leu147Val) | gnomAD v4 |
2 | g.165344633C>T | CA429885386 | SCN2A | c.2641C>T (p.Leu881=) c.*960C>T (n.*960C>T) c.*628C>T (n.*628C>T) c.*3164C>T (n.*3164C>T) c.*583C>T (n.*583C>T) c.2245C>T (p.Leu749=) c.79C>T (p.Leu27=) c.492C>T n.2784C>T c.2611C>T (p.Leu871=) c.1888C>T (p.Leu630=) c.439C>T (p.Leu147=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165344634T>A | CA317880 | SCN2A | c.2642T>A (p.Leu881Gln) c.*961T>A (n.*961T>A) c.*629T>A (n.*629T>A) c.*3165T>A (n.*3165T>A) c.*584T>A (n.*584T>A) c.2246T>A (p.Leu749Gln) c.80T>A (p.Leu27Gln) c.493T>A n.2785T>A c.2612T>A (p.Leu871Gln) c.1889T>A (p.Leu630Gln) c.440T>A (p.Leu147Gln) | ClinVar dbSNP |
2 | g.165344634T>C | CA16621763 | SCN2A | c.2642T>C (p.Leu881Pro) c.*961T>C (n.*961T>C) c.*629T>C (n.*629T>C) c.*3165T>C (n.*3165T>C) c.*584T>C (n.*584T>C) c.2246T>C (p.Leu749Pro) c.80T>C (p.Leu27Pro) c.493T>C n.2785T>C c.2612T>C (p.Leu871Pro) c.1889T>C (p.Leu630Pro) c.440T>C (p.Leu147Pro) | ClinVar dbSNP |
2 | g.165344634T>G | CA349013446 | SCN2A | c.2642T>G (p.Leu881Arg) c.*961T>G (n.*961T>G) c.*629T>G (n.*629T>G) c.*3165T>G (n.*3165T>G) c.*584T>G (n.*584T>G) c.2246T>G (p.Leu749Arg) c.80T>G (p.Leu27Arg) c.493T>G n.2785T>G c.2612T>G (p.Leu871Arg) c.1889T>G (p.Leu630Arg) c.440T>G (p.Leu147Arg) | |
2 | g.165344634T= | CA1304545472 | SCN2A | c.2642T= (p.Leu881=) c.*961T= (n.*961T=) c.*629T= (n.*629T=) c.*3165T= (n.*3165T=) c.*584T= (n.*584T=) c.2246T= (p.Leu749=) c.80T= (p.Leu27=) c.493T= n.2785T= c.2612T= (p.Leu871=) c.1889T= (p.Leu630=) c.440T= (p.Leu147=) | |
2 | g.165344635A= | CA1304545473 | SCN2A | c.2643A= (p.Leu881=) c.*962A= (n.*962A=) c.*630A= (n.*630A=) c.*3166A= (n.*3166A=) c.*585A= (n.*585A=) c.2247A= (p.Leu749=) c.81A= (p.Leu27=) c.494A= n.2786A= c.2613A= (p.Leu871=) c.1890A= (p.Leu630=) c.441A= (p.Leu147=) | |
2 | g.165344635A>C | CA429885388 | SCN2A | c.2643A>C (p.Leu881=) c.*962A>C (n.*962A>C) c.*630A>C (n.*630A>C) c.*3166A>C (n.*3166A>C) c.*585A>C (n.*585A>C) c.2247A>C (p.Leu749=) c.81A>C (p.Leu27=) c.494A>C n.2786A>C c.2613A>C (p.Leu871=) c.1890A>C (p.Leu630=) c.441A>C (p.Leu147=) | |
2 | g.165344635A>G | CA1940011 | SCN2A | c.2643A>G (p.Leu881=) c.*962A>G (n.*962A>G) c.*630A>G (n.*630A>G) c.*3166A>G (n.*3166A>G) c.*585A>G (n.*585A>G) c.2247A>G (p.Leu749=) c.81A>G (p.Leu27=) c.494A>G n.2786A>G c.2613A>G (p.Leu871=) c.1890A>G (p.Leu630=) c.441A>G (p.Leu147=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165344635A>T | CA429885387 | SCN2A | c.2643A>T (p.Leu881=) c.*962A>T (n.*962A>T) c.*630A>T (n.*630A>T) c.*3166A>T (n.*3166A>T) c.*585A>T (n.*585A>T) c.2247A>T (p.Leu749=) c.81A>T (p.Leu27=) c.494A>T n.2786A>T c.2613A>T (p.Leu871=) c.1890A>T (p.Leu630=) c.441A>T (p.Leu147=) | dbSNP |
2 | g.165344636G>A | CA349013451 | SCN2A | c.2644G>A (p.Gly882Arg) c.*963G>A (n.*963G>A) c.*631G>A (n.*631G>A) c.*3167G>A (n.*3167G>A) c.*586G>A (n.*586G>A) c.2248G>A (p.Gly750Arg) c.82G>A (p.Gly28Arg) c.495G>A n.2787G>A c.2614G>A (p.Gly872Arg) c.1891G>A (p.Gly631Arg) c.442G>A (p.Gly148Arg) | |
2 | g.165344636G>C | CA349013452 | SCN2A | c.2644G>C (p.Gly882Arg) c.*963G>C (n.*963G>C) c.*631G>C (n.*631G>C) c.*3167G>C (n.*3167G>C) c.*586G>C (n.*586G>C) c.2248G>C (p.Gly750Arg) c.82G>C (p.Gly28Arg) c.495G>C n.2787G>C c.2614G>C (p.Gly872Arg) c.1891G>C (p.Gly631Arg) c.442G>C (p.Gly148Arg) | |
2 | g.165344636G= | CA1304545474 | SCN2A | c.2644G= (p.Gly882=) c.*963G= (n.*963G=) c.*631G= (n.*631G=) c.*3167G= (n.*3167G=) c.*586G= (n.*586G=) c.2248G= (p.Gly750=) c.82G= (p.Gly28=) c.495G= n.2787G= c.2614G= (p.Gly872=) c.1891G= (p.Gly631=) c.442G= (p.Gly148=) | |
2 | g.165344636G>T | CA349013449 | SCN2A | c.2644G>T (p.Gly882Ter) c.*963G>T (n.*963G>T) c.*631G>T (n.*631G>T) c.*3167G>T (n.*3167G>T) c.*586G>T (n.*586G>T) c.2248G>T (p.Gly750Ter) c.82G>T (p.Gly28Ter) c.495G>T n.2787G>T c.2614G>T (p.Gly872Ter) c.1891G>T (p.Gly631Ter) c.442G>T (p.Gly148Ter) | dbSNP |
2 | g.165344637G>A | CA349013455 | SCN2A | c.2645G>A (p.Gly882Glu) c.*964G>A (n.*964G>A) c.*632G>A (n.*632G>A) c.*3168G>A (n.*3168G>A) c.*587G>A (n.*587G>A) c.2249G>A (p.Gly750Glu) c.83G>A (p.Gly28Glu) c.496G>A n.2788G>A c.2615G>A (p.Gly872Glu) c.1892G>A (p.Gly631Glu) c.443G>A (p.Gly148Glu) | ClinVar dbSNP COSMIC COSMIC |
2 | g.165344637G>C | CA349013457 | SCN2A | c.2645G>C (p.Gly882Ala) c.*964G>C (n.*964G>C) c.*632G>C (n.*632G>C) c.*3168G>C (n.*3168G>C) c.*587G>C (n.*587G>C) c.2249G>C (p.Gly750Ala) c.83G>C (p.Gly28Ala) c.496G>C n.2788G>C c.2615G>C (p.Gly872Ala) c.1892G>C (p.Gly631Ala) c.443G>C (p.Gly148Ala) | |
2 | g.165344637G= | CA1304545475 | SCN2A | c.2645G= (p.Gly882=) c.*964G= (n.*964G=) c.*632G= (n.*632G=) c.*3168G= (n.*3168G=) c.*587G= (n.*587G=) c.2249G= (p.Gly750=) c.83G= (p.Gly28=) c.496G= n.2788G= c.2615G= (p.Gly872=) c.1892G= (p.Gly631=) c.443G= (p.Gly148=) | |
2 | g.165344637G>T | CA349013459 | SCN2A | c.2645G>T (p.Gly882Val) c.*964G>T (n.*964G>T) c.*632G>T (n.*632G>T) c.*3168G>T (n.*3168G>T) c.*587G>T (n.*587G>T) c.2249G>T (p.Gly750Val) c.83G>T (p.Gly28Val) c.496G>T n.2788G>T c.2615G>T (p.Gly872Val) c.1892G>T (p.Gly631Val) c.443G>T (p.Gly148Val) | |
2 | g.165344638A>C | CA429885389 | SCN2A | c.2646A>C (p.Gly882=) c.*965A>C (n.*965A>C) c.*633A>C (n.*633A>C) c.*3169A>C (n.*3169A>C) c.*588A>C (n.*588A>C) c.2250A>C (p.Gly750=) c.84A>C (p.Gly28=) c.497A>C n.2789A>C c.2616A>C (p.Gly872=) c.1893A>C (p.Gly631=) c.444A>C (p.Gly148=) | |
2 | g.165344638A>G | CA429885390 | SCN2A | c.2646A>G (p.Gly882=) c.*965A>G (n.*965A>G) c.*633A>G (n.*633A>G) c.*3169A>G (n.*3169A>G) c.*588A>G (n.*588A>G) c.2250A>G (p.Gly750=) c.84A>G (p.Gly28=) c.497A>G n.2789A>G c.2616A>G (p.Gly872=) c.1893A>G (p.Gly631=) c.444A>G (p.Gly148=) | |
2 | g.165344638A>T | CA429885391 | SCN2A | c.2646A>T (p.Gly882=) c.*965A>T (n.*965A>T) c.*633A>T (n.*633A>T) c.*3169A>T (n.*3169A>T) c.*588A>T (n.*588A>T) c.2250A>T (p.Gly750=) c.84A>T (p.Gly28=) c.497A>T n.2789A>T c.2616A>T (p.Gly872=) c.1893A>T (p.Gly631=) c.444A>T (p.Gly148=) | |
2 | g.165344639A>C | CA349013462 | SCN2A | c.2647A>C (p.Asn883His) c.*966A>C (n.*966A>C) c.*634A>C (n.*634A>C) c.*3170A>C (n.*3170A>C) c.*589A>C (n.*589A>C) c.2251A>C (p.Asn751His) c.85A>C (p.Asn29His) c.498A>C n.2790A>C c.2617A>C (p.Asn873His) c.1894A>C (p.Asn632His) c.445A>C (p.Asn149His) | |
2 | g.165344639A>G | CA349013464 | SCN2A | c.2647A>G (p.Asn883Asp) c.*966A>G (n.*966A>G) c.*634A>G (n.*634A>G) c.*3170A>G (n.*3170A>G) c.*589A>G (n.*589A>G) c.2251A>G (p.Asn751Asp) c.85A>G (p.Asn29Asp) c.498A>G n.2790A>G c.2617A>G (p.Asn873Asp) c.1894A>G (p.Asn632Asp) c.445A>G (p.Asn149Asp) | |
2 | g.165344639A>T | CA349013466 | SCN2A | c.2647A>T (p.Asn883Tyr) c.*966A>T (n.*966A>T) c.*634A>T (n.*634A>T) c.*3170A>T (n.*3170A>T) c.*589A>T (n.*589A>T) c.2251A>T (p.Asn751Tyr) c.85A>T (p.Asn29Tyr) c.498A>T n.2790A>T c.2617A>T (p.Asn873Tyr) c.1894A>T (p.Asn632Tyr) c.445A>T (p.Asn149Tyr) | |
2 | g.165344640A>C | CA349013472 | SCN2A | c.2648A>C (p.Asn883Thr) c.*967A>C (n.*967A>C) c.*635A>C (n.*635A>C) c.*3171A>C (n.*3171A>C) c.*590A>C (n.*590A>C) c.2252A>C (p.Asn751Thr) c.86A>C (p.Asn29Thr) c.499A>C n.2791A>C c.2618A>C (p.Asn873Thr) c.1895A>C (p.Asn632Thr) c.446A>C (p.Asn149Thr) | |
2 | g.165344640A>G | CA349013468 | SCN2A | c.2648A>G (p.Asn883Ser) c.*967A>G (n.*967A>G) c.*635A>G (n.*635A>G) c.*3171A>G (n.*3171A>G) c.*590A>G (n.*590A>G) c.2252A>G (p.Asn751Ser) c.86A>G (p.Asn29Ser) c.499A>G n.2791A>G c.2618A>G (p.Asn873Ser) c.1895A>G (p.Asn632Ser) c.446A>G (p.Asn149Ser) | |
2 | g.165344640A>T | CA349013470 | SCN2A | c.2648A>T (p.Asn883Ile) c.*967A>T (n.*967A>T) c.*635A>T (n.*635A>T) c.*3171A>T (n.*3171A>T) c.*590A>T (n.*590A>T) c.2252A>T (p.Asn751Ile) c.86A>T (p.Asn29Ile) c.499A>T n.2791A>T c.2618A>T (p.Asn873Ile) c.1895A>T (p.Asn632Ile) c.446A>T (p.Asn149Ile) | |
2 | g.165344641C>A | CA349013474 | SCN2A | c.2649C>A (p.Asn883Lys) c.*968C>A (n.*968C>A) c.*636C>A (n.*636C>A) c.*3172C>A (n.*3172C>A) c.*591C>A (n.*591C>A) c.2253C>A (p.Asn751Lys) c.87C>A (p.Asn29Lys) c.500C>A n.2792C>A c.2619C>A (p.Asn873Lys) c.1896C>A (p.Asn632Lys) c.447C>A (p.Asn149Lys) | |
2 | g.165344641C>G | CA349013475 | SCN2A | c.2649C>G (p.Asn883Lys) c.*968C>G (n.*968C>G) c.*636C>G (n.*636C>G) c.*3172C>G (n.*3172C>G) c.*591C>G (n.*591C>G) c.2253C>G (p.Asn751Lys) c.87C>G (p.Asn29Lys) c.500C>G n.2792C>G c.2619C>G (p.Asn873Lys) c.1896C>G (p.Asn632Lys) c.447C>G (p.Asn149Lys) | |
2 | g.165344641C>T | CA429885392 | SCN2A | c.2649C>T (p.Asn883=) c.*968C>T (n.*968C>T) c.*636C>T (n.*636C>T) c.*3172C>T (n.*3172C>T) c.*591C>T (n.*591C>T) c.2253C>T (p.Asn751=) c.87C>T (p.Asn29=) c.500C>T n.2792C>T c.2619C>T (p.Asn873=) c.1896C>T (p.Asn632=) c.447C>T (p.Asn149=) | |
2 | g.165344642C>A | CA349013478 | SCN2A | c.2650C>A (p.Leu884Ile) c.*969C>A (n.*969C>A) c.*637C>A (n.*637C>A) c.*3173C>A (n.*3173C>A) c.*592C>A (n.*592C>A) c.2254C>A (p.Leu752Ile) c.88C>A (p.Leu30Ile) c.501C>A n.2793C>A c.2620C>A (p.Leu874Ile) c.1897C>A (p.Leu633Ile) c.448C>A (p.Leu150Ile) | |
2 | g.165344642C>G | CA349013481 | SCN2A | c.2650C>G (p.Leu884Val) c.*969C>G (n.*969C>G) c.*637C>G (n.*637C>G) c.*3173C>G (n.*3173C>G) c.*592C>G (n.*592C>G) c.2254C>G (p.Leu752Val) c.88C>G (p.Leu30Val) c.501C>G n.2793C>G c.2620C>G (p.Leu874Val) c.1897C>G (p.Leu633Val) c.448C>G (p.Leu150Val) | |
2 | g.165344642C>T | CA349013482 | SCN2A | c.2650C>T (p.Leu884Phe) c.*969C>T (n.*969C>T) c.*637C>T (n.*637C>T) c.*3173C>T (n.*3173C>T) c.*592C>T (n.*592C>T) c.2254C>T (p.Leu752Phe) c.88C>T (p.Leu30Phe) c.501C>T n.2793C>T c.2620C>T (p.Leu874Phe) c.1897C>T (p.Leu633Phe) c.448C>T (p.Leu150Phe) | |
2 | g.165344643T>A | CA317883 | SCN2A | c.2651T>A (p.Leu884His) c.*970T>A (n.*970T>A) c.*638T>A (n.*638T>A) c.*3174T>A (n.*3174T>A) c.*593T>A (n.*593T>A) c.2255T>A (p.Leu752His) c.89T>A (p.Leu30His) c.502T>A n.2794T>A c.2621T>A (p.Leu874His) c.1898T>A (p.Leu633His) c.449T>A (p.Leu150His) | dbSNP |
2 | g.165344643T>C | CA349014177 | SCN2A | c.2651T>C (p.Leu884Pro) c.*970T>C (n.*970T>C) c.*638T>C (n.*638T>C) c.*3174T>C (n.*3174T>C) c.*593T>C (n.*593T>C) c.2255T>C (p.Leu752Pro) c.89T>C (p.Leu30Pro) c.502T>C n.2794T>C c.2621T>C (p.Leu874Pro) c.1898T>C (p.Leu633Pro) c.449T>C (p.Leu150Pro) | |
2 | g.165344643T>G | CA349014180 | SCN2A | c.2651T>G (p.Leu884Arg) c.*970T>G (n.*970T>G) c.*638T>G (n.*638T>G) c.*3174T>G (n.*3174T>G) c.*593T>G (n.*593T>G) c.2255T>G (p.Leu752Arg) c.89T>G (p.Leu30Arg) c.502T>G n.2794T>G c.2621T>G (p.Leu874Arg) c.1898T>G (p.Leu633Arg) c.449T>G (p.Leu150Arg) | |
2 | g.165344643T= | CA1304545476 | SCN2A | c.2651T= (p.Leu884=) c.*970T= (n.*970T=) c.*638T= (n.*638T=) c.*3174T= (n.*3174T=) c.*593T= (n.*593T=) c.2255T= (p.Leu752=) c.89T= (p.Leu30=) c.502T= n.2794T= c.2621T= (p.Leu874=) c.1898T= (p.Leu633=) c.449T= (p.Leu150=) | |
2 | g.165344646_165344663del | CA2580064223 | SCN2A | c.2654_2671del (p.Thr885_Ile890del) c.*973_*990del (n.*973_*990del) c.*641_*658del (n.*641_*658del) c.*3177_*3194del (n.*3177_*3194del) c.*596_*613del (n.*596_*613del) c.2258_2275del (p.Thr753_Ile758del) c.92_109del (p.Thr31_Ile36del) c.505_522del n.2797_2814del c.2624_2641del (p.Thr875_Ile880del) c.1901_1918del (p.Thr634_Ile639del) c.452_469del (p.Thr151_Ile156del) | ClinVar |
2 | g.165344644C>A | CA429972021 | SCN2A | c.2652C>A (p.Leu884=) c.*971C>A (n.*971C>A) c.*639C>A (n.*639C>A) c.*3175C>A (n.*3175C>A) c.*594C>A (n.*594C>A) c.2256C>A (p.Leu752=) c.90C>A (p.Leu30=) c.503C>A n.2795C>A c.2622C>A (p.Leu874=) c.1899C>A (p.Leu633=) c.450C>A (p.Leu150=) | |
2 | g.165344644C>G | CA429972024 | SCN2A | c.2652C>G (p.Leu884=) c.*971C>G (n.*971C>G) c.*639C>G (n.*639C>G) c.*3175C>G (n.*3175C>G) c.*594C>G (n.*594C>G) c.2256C>G (p.Leu752=) c.90C>G (p.Leu30=) c.503C>G n.2795C>G c.2622C>G (p.Leu874=) c.1899C>G (p.Leu633=) c.450C>G (p.Leu150=) | |
2 | g.165344644C>T | CA429972025 | SCN2A | c.2652C>T (p.Leu884=) c.*971C>T (n.*971C>T) c.*639C>T (n.*639C>T) c.*3175C>T (n.*3175C>T) c.*594C>T (n.*594C>T) c.2256C>T (p.Leu752=) c.90C>T (p.Leu30=) c.503C>T n.2795C>T c.2622C>T (p.Leu874=) c.1899C>T (p.Leu633=) c.450C>T (p.Leu150=) | |
2 | g.165344645A>C | CA349014184 | SCN2A | c.2653A>C (p.Thr885Pro) c.*972A>C (n.*972A>C) c.*640A>C (n.*640A>C) c.*3176A>C (n.*3176A>C) c.*595A>C (n.*595A>C) c.2257A>C (p.Thr753Pro) c.91A>C (p.Thr31Pro) c.504A>C n.2796A>C c.2623A>C (p.Thr875Pro) c.1900A>C (p.Thr634Pro) c.451A>C (p.Thr151Pro) | ClinVar dbSNP |
2 | g.165344645A>G | CA349014185 | SCN2A | c.2653A>G (p.Thr885Ala) c.*972A>G (n.*972A>G) c.*640A>G (n.*640A>G) c.*3176A>G (n.*3176A>G) c.*595A>G (n.*595A>G) c.2257A>G (p.Thr753Ala) c.91A>G (p.Thr31Ala) c.504A>G n.2796A>G c.2623A>G (p.Thr875Ala) c.1900A>G (p.Thr634Ala) c.451A>G (p.Thr151Ala) | |
2 | g.165344645A>T | CA349014189 | SCN2A | c.2653A>T (p.Thr885Ser) c.*972A>T (n.*972A>T) c.*640A>T (n.*640A>T) c.*3176A>T (n.*3176A>T) c.*595A>T (n.*595A>T) c.2257A>T (p.Thr753Ser) c.91A>T (p.Thr31Ser) c.504A>T n.2796A>T c.2623A>T (p.Thr875Ser) c.1900A>T (p.Thr634Ser) c.451A>T (p.Thr151Ser) | |
2 | g.165344646C>A | CA349014193 | SCN2A | c.2654C>A (p.Thr885Asn) c.*973C>A (n.*973C>A) c.*641C>A (n.*641C>A) c.*3177C>A (n.*3177C>A) c.*596C>A (n.*596C>A) c.2258C>A (p.Thr753Asn) c.92C>A (p.Thr31Asn) c.505C>A n.2797C>A c.2624C>A (p.Thr875Asn) c.1901C>A (p.Thr634Asn) c.452C>A (p.Thr151Asn) | |
2 | g.165344646C= | CA1304545477 | SCN2A | c.2654C= (p.Thr885=) c.*973C= (n.*973C=) c.*641C= (n.*641C=) c.*3177C= (n.*3177C=) c.*596C= (n.*596C=) c.2258C= (p.Thr753=) c.92C= (p.Thr31=) c.505C= n.2797C= c.2624C= (p.Thr875=) c.1901C= (p.Thr634=) c.452C= (p.Thr151=) | |
2 | g.165344646C>G | CA349014194 | SCN2A | c.2654C>G (p.Thr885Ser) c.*973C>G (n.*973C>G) c.*641C>G (n.*641C>G) c.*3177C>G (n.*3177C>G) c.*596C>G (n.*596C>G) c.2258C>G (p.Thr753Ser) c.92C>G (p.Thr31Ser) c.505C>G n.2797C>G c.2624C>G (p.Thr875Ser) c.1901C>G (p.Thr634Ser) c.452C>G (p.Thr151Ser) | |
2 | g.165344646C>T | CA349014196 | SCN2A | c.2654C>T (p.Thr885Ile) c.*973C>T (n.*973C>T) c.*641C>T (n.*641C>T) c.*3177C>T (n.*3177C>T) c.*596C>T (n.*596C>T) c.2258C>T (p.Thr753Ile) c.92C>T (p.Thr31Ile) c.505C>T n.2797C>T c.2624C>T (p.Thr875Ile) c.1901C>T (p.Thr634Ile) c.452C>T (p.Thr151Ile) | ClinVar dbSNP |
2 | g.165344647C>A | CA429972034 | SCN2A | c.2655C>A (p.Thr885=) c.*974C>A (n.*974C>A) c.*642C>A (n.*642C>A) c.*3178C>A (n.*3178C>A) c.*597C>A (n.*597C>A) c.2259C>A (p.Thr753=) c.93C>A (p.Thr31=) c.506C>A n.2798C>A c.2625C>A (p.Thr875=) c.1902C>A (p.Thr634=) c.453C>A (p.Thr151=) | |
2 | g.165344647C= | CA1304545478 | SCN2A | c.2655C= (p.Thr885=) c.*974C= (n.*974C=) c.*642C= (n.*642C=) c.*3178C= (n.*3178C=) c.*597C= (n.*597C=) c.2259C= (p.Thr753=) c.93C= (p.Thr31=) c.506C= n.2798C= c.2625C= (p.Thr875=) c.1902C= (p.Thr634=) c.453C= (p.Thr151=) | |
2 | g.165344647C>G | CA429972033 | SCN2A | c.2655C>G (p.Thr885=) c.*974C>G (n.*974C>G) c.*642C>G (n.*642C>G) c.*3178C>G (n.*3178C>G) c.*597C>G (n.*597C>G) c.2259C>G (p.Thr753=) c.93C>G (p.Thr31=) c.506C>G n.2798C>G c.2625C>G (p.Thr875=) c.1902C>G (p.Thr634=) c.453C>G (p.Thr151=) | gnomAD v4 |
2 | g.165344647C>T | CA59719973 | SCN2A | c.2655C>T (p.Thr885=) c.*974C>T (n.*974C>T) c.*642C>T (n.*642C>T) c.*3178C>T (n.*3178C>T) c.*597C>T (n.*597C>T) c.2259C>T (p.Thr753=) c.93C>T (p.Thr31=) c.506C>T n.2798C>T c.2625C>T (p.Thr875=) c.1902C>T (p.Thr634=) c.453C>T (p.Thr151=) | dbSNP |
2 | g.165344648T>A | CA349014199 | SCN2A | c.2656T>A (p.Leu886Met) c.*975T>A (n.*975T>A) c.*643T>A (n.*643T>A) c.*3179T>A (n.*3179T>A) c.*598T>A (n.*598T>A) c.2260T>A (p.Leu754Met) c.94T>A (p.Leu32Met) c.507T>A n.2799T>A c.2626T>A (p.Leu876Met) c.1903T>A (p.Leu635Met) c.454T>A (p.Leu152Met) | ClinVar |
2 | g.165344648T>C | CA429972035 | SCN2A | c.2656T>C (p.Leu886=) c.*975T>C (n.*975T>C) c.*643T>C (n.*643T>C) c.*3179T>C (n.*3179T>C) c.*598T>C (n.*598T>C) c.2260T>C (p.Leu754=) c.94T>C (p.Leu32=) c.507T>C n.2799T>C c.2626T>C (p.Leu876=) c.1903T>C (p.Leu635=) c.454T>C (p.Leu152=) | |
2 | g.165344648T>G | CA349014206 | SCN2A | c.2656T>G (p.Leu886Val) c.*975T>G (n.*975T>G) c.*643T>G (n.*643T>G) c.*3179T>G (n.*3179T>G) c.*598T>G (n.*598T>G) c.2260T>G (p.Leu754Val) c.94T>G (p.Leu32Val) c.507T>G n.2799T>G c.2626T>G (p.Leu876Val) c.1903T>G (p.Leu635Val) c.454T>G (p.Leu152Val) | ClinVar |
2 | g.165344649T>A | CA349014212 | SCN2A | c.2657T>A (p.Leu886Ter) c.*976T>A (n.*976T>A) c.*644T>A (n.*644T>A) c.*3180T>A (n.*3180T>A) c.*599T>A (n.*599T>A) c.2261T>A (p.Leu754Ter) c.95T>A (p.Leu32Ter) c.508T>A n.2800T>A c.2627T>A (p.Leu876Ter) c.1904T>A (p.Leu635Ter) c.455T>A (p.Leu152Ter) | |
2 | g.165344649T>C | CA317886 | SCN2A | c.2657T>C (p.Leu886Ser) c.*976T>C (n.*976T>C) c.*644T>C (n.*644T>C) c.*3180T>C (n.*3180T>C) c.*599T>C (n.*599T>C) c.2261T>C (p.Leu754Ser) c.95T>C (p.Leu32Ser) c.508T>C n.2800T>C c.2627T>C (p.Leu876Ser) c.1904T>C (p.Leu635Ser) c.455T>C (p.Leu152Ser) | ClinVar dbSNP |
2 | g.165344649T>G | CA349014217 | SCN2A | c.2657T>G (p.Leu886Trp) c.*976T>G (n.*976T>G) c.*644T>G (n.*644T>G) c.*3180T>G (n.*3180T>G) c.*599T>G (n.*599T>G) c.2261T>G (p.Leu754Trp) c.95T>G (p.Leu32Trp) c.508T>G n.2800T>G c.2627T>G (p.Leu876Trp) c.1904T>G (p.Leu635Trp) c.455T>G (p.Leu152Trp) | |
2 | g.165344649T= | CA1304545479 | SCN2A | c.2657T= (p.Leu886=) c.*976T= (n.*976T=) c.*644T= (n.*644T=) c.*3180T= (n.*3180T=) c.*599T= (n.*599T=) c.2261T= (p.Leu754=) c.95T= (p.Leu32=) c.508T= n.2800T= c.2627T= (p.Leu876=) c.1904T= (p.Leu635=) c.455T= (p.Leu152=) | |
2 | g.165344649_165344650insA | CA2753007924 | SCN2A | c.2657_2658insA (p.Val887GlyfsTer19) c.*976_*977insA (n.*976_*977insA) c.*644_*645insA (n.*644_*645insA) c.*3180_*3181insA (n.*3180_*3181insA) c.*599_*600insA (n.*599_*600insA) c.2261_2262insA (p.Val755GlyfsTer19) c.95_96insA (p.Val33GlyfsTer19) c.508_509insA n.2800_2801insA c.2627_2628insA (p.Val877GlyfsTer19) c.1904_1905insA (p.Val636GlyfsTer19) c.455_456insA (p.Val153GlyfsTer19) | |
2 | g.165344650G>A | CA429972037 | SCN2A | c.2658G>A (p.Leu886=) c.*977G>A (n.*977G>A) c.*645G>A (n.*645G>A) c.*3181G>A (n.*3181G>A) c.*600G>A (n.*600G>A) c.2262G>A (p.Leu754=) c.96G>A (p.Leu32=) c.509G>A n.2801G>A c.2628G>A (p.Leu876=) c.1905G>A (p.Leu635=) c.456G>A (p.Leu152=) | gnomAD v4 COSMIC COSMIC |
2 | g.165344650G>C | CA349014228 | SCN2A | c.2658G>C (p.Leu886Phe) c.*977G>C (n.*977G>C) c.*645G>C (n.*645G>C) c.*3181G>C (n.*3181G>C) c.*600G>C (n.*600G>C) c.2262G>C (p.Leu754Phe) c.96G>C (p.Leu32Phe) c.509G>C n.2801G>C c.2628G>C (p.Leu876Phe) c.1905G>C (p.Leu635Phe) c.456G>C (p.Leu152Phe) | gnomAD v4 |
2 | g.165344650G>T | CA349014230 | SCN2A | c.2658G>T (p.Leu886Phe) c.*977G>T (n.*977G>T) c.*645G>T (n.*645G>T) c.*3181G>T (n.*3181G>T) c.*600G>T (n.*600G>T) c.2262G>T (p.Leu754Phe) c.96G>T (p.Leu32Phe) c.509G>T n.2801G>T c.2628G>T (p.Leu876Phe) c.1905G>T (p.Leu635Phe) c.456G>T (p.Leu152Phe) | gnomAD v4 |
2 | g.165344650_165344651delinsTT | CA2586965065 | SCN2A | c.2658_2659delinsTT (p.Leu886_Val887delinsPheLeu) c.*977_*978delinsTT (n.*977_*978delinsTT) c.*645_*646delinsTT (n.*645_*646delinsTT) c.*3181_*3182delinsTT (n.*3181_*3182delinsTT) c.*600_*601delinsTT (n.*600_*601delinsTT) c.2262_2263delinsTT (p.Leu754_Val755delinsPheLeu) c.96_97delinsTT (p.Leu32_Val33delinsPheLeu) c.509_510delinsTT n.2801_2802delinsTT c.2628_2629delinsTT (p.Leu876_Val877delinsPheLeu) c.1905_1906delinsTT (p.Leu635_Val636delinsPheLeu) c.456_457delinsTT (p.Leu152_Val153delinsPheLeu) | |
2 | g.165344651G>A | CA349014232 | SCN2A | c.2659G>A (p.Val887Ile) c.*978G>A (n.*978G>A) c.*646G>A (n.*646G>A) c.*3182G>A (n.*3182G>A) c.*601G>A (n.*601G>A) c.2263G>A (p.Val755Ile) c.97G>A (p.Val33Ile) c.510G>A n.2802G>A c.2629G>A (p.Val877Ile) c.1906G>A (p.Val636Ile) c.457G>A (p.Val153Ile) | COSMIC COSMIC |
2 | g.165344651G>C | CA349014235 | SCN2A | c.2659G>C (p.Val887Leu) c.*978G>C (n.*978G>C) c.*646G>C (n.*646G>C) c.*3182G>C (n.*3182G>C) c.*601G>C (n.*601G>C) c.2263G>C (p.Val755Leu) c.97G>C (p.Val33Leu) c.510G>C n.2802G>C c.2629G>C (p.Val877Leu) c.1906G>C (p.Val636Leu) c.457G>C (p.Val153Leu) | ClinVar dbSNP |
2 | g.165344651G= | CA1304545480 | SCN2A | c.2659G= (p.Val887=) c.*978G= (n.*978G=) c.*646G= (n.*646G=) c.*3182G= (n.*3182G=) c.*601G= (n.*601G=) c.2263G= (p.Val755=) c.97G= (p.Val33=) c.510G= n.2802G= c.2629G= (p.Val877=) c.1906G= (p.Val636=) c.457G= (p.Val153=) | |
2 | g.165344651G>T | CA349014233 | SCN2A | c.2659G>T (p.Val887Leu) c.*978G>T (n.*978G>T) c.*646G>T (n.*646G>T) c.*3182G>T (n.*3182G>T) c.*601G>T (n.*601G>T) c.2263G>T (p.Val755Leu) c.97G>T (p.Val33Leu) c.510G>T n.2802G>T c.2629G>T (p.Val877Leu) c.1906G>T (p.Val636Leu) c.457G>T (p.Val153Leu) | COSMIC COSMIC |
2 | g.165344652T>A | CA349014255 | SCN2A | c.2660T>A (p.Val887Glu) c.*979T>A (n.*979T>A) c.*647T>A (n.*647T>A) c.*3183T>A (n.*3183T>A) c.*602T>A (n.*602T>A) c.2264T>A (p.Val755Glu) c.98T>A (p.Val33Glu) c.511T>A n.2803T>A c.2630T>A (p.Val877Glu) c.1907T>A (p.Val636Glu) c.458T>A (p.Val153Glu) | |
2 | g.165344652T>C | CA349014257 | SCN2A | c.2660T>C (p.Val887Ala) c.*979T>C (n.*979T>C) c.*647T>C (n.*647T>C) c.*3183T>C (n.*3183T>C) c.*602T>C (n.*602T>C) c.2264T>C (p.Val755Ala) c.98T>C (p.Val33Ala) c.511T>C n.2803T>C c.2630T>C (p.Val877Ala) c.1907T>C (p.Val636Ala) c.458T>C (p.Val153Ala) | |
2 | g.165344652T>G | CA349014258 | SCN2A | c.2660T>G (p.Val887Gly) c.*979T>G (n.*979T>G) c.*647T>G (n.*647T>G) c.*3183T>G (n.*3183T>G) c.*602T>G (n.*602T>G) c.2264T>G (p.Val755Gly) c.98T>G (p.Val33Gly) c.511T>G n.2803T>G c.2630T>G (p.Val877Gly) c.1907T>G (p.Val636Gly) c.458T>G (p.Val153Gly) | |
2 | g.165344653A= | CA1304545481 | SCN2A | c.2661A= (p.Val887=) c.*980A= (n.*980A=) c.*648A= (n.*648A=) c.*3184A= (n.*3184A=) c.*603A= (n.*603A=) c.2265A= (p.Val755=) c.99A= (p.Val33=) c.512A= n.2804A= c.2631A= (p.Val877=) c.1908A= (p.Val636=) c.459A= (p.Val153=) | |
2 | g.165344653A>C | CA429972046 | SCN2A | c.2661A>C (p.Val887=) c.*980A>C (n.*980A>C) c.*648A>C (n.*648A>C) c.*3184A>C (n.*3184A>C) c.*603A>C (n.*603A>C) c.2265A>C (p.Val755=) c.99A>C (p.Val33=) c.512A>C n.2804A>C c.2631A>C (p.Val877=) c.1908A>C (p.Val636=) c.459A>C (p.Val153=) | |
2 | g.165344653A>G | CA1940012 | SCN2A | c.2661A>G (p.Val887=) c.*980A>G (n.*980A>G) c.*648A>G (n.*648A>G) c.*3184A>G (n.*3184A>G) c.*603A>G (n.*603A>G) c.2265A>G (p.Val755=) c.99A>G (p.Val33=) c.512A>G n.2804A>G c.2631A>G (p.Val877=) c.1908A>G (p.Val636=) c.459A>G (p.Val153=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.165344653A>T | CA429972047 | SCN2A | c.2661A>T (p.Val887=) c.*980A>T (n.*980A>T) c.*648A>T (n.*648A>T) c.*3184A>T (n.*3184A>T) c.*603A>T (n.*603A>T) c.2265A>T (p.Val755=) c.99A>T (p.Val33=) c.512A>T n.2804A>T c.2631A>T (p.Val877=) c.1908A>T (p.Val636=) c.459A>T (p.Val153=) | |
2 | g.165344654T>A | CA349014261 | SCN2A | c.2662T>A (p.Leu888Met) c.*981T>A (n.*981T>A) c.*649T>A (n.*649T>A) c.*3185T>A (n.*3185T>A) c.*604T>A (n.*604T>A) c.2266T>A (p.Leu756Met) c.100T>A (p.Leu34Met) c.513T>A n.2805T>A c.2632T>A (p.Leu878Met) c.1909T>A (p.Leu637Met) c.460T>A (p.Leu154Met) | |
2 | g.165344654T>C | CA429972048 | SCN2A | c.2662T>C (p.Leu888=) c.*981T>C (n.*981T>C) c.*649T>C (n.*649T>C) c.*3185T>C (n.*3185T>C) c.*604T>C (n.*604T>C) c.2266T>C (p.Leu756=) c.100T>C (p.Leu34=) c.513T>C n.2805T>C c.2632T>C (p.Leu878=) c.1909T>C (p.Leu637=) c.460T>C (p.Leu154=) | |
2 | g.165344654T>G | CA349014263 | SCN2A | c.2662T>G (p.Leu888Val) c.*981T>G (n.*981T>G) c.*649T>G (n.*649T>G) c.*3185T>G (n.*3185T>G) c.*604T>G (n.*604T>G) c.2266T>G (p.Leu756Val) c.100T>G (p.Leu34Val) c.513T>G n.2805T>G c.2632T>G (p.Leu878Val) c.1909T>G (p.Leu637Val) c.460T>G (p.Leu154Val) | |
2 | g.165344655T>A | CA349014270 | SCN2A | c.2663T>A (p.Leu888Ter) c.*982T>A (n.*982T>A) c.*650T>A (n.*650T>A) c.*3186T>A (n.*3186T>A) c.*605T>A (n.*605T>A) c.2267T>A (p.Leu756Ter) c.101T>A (p.Leu34Ter) c.514T>A n.2806T>A c.2633T>A (p.Leu878Ter) c.1910T>A (p.Leu637Ter) c.461T>A (p.Leu154Ter) | |
2 | g.165344655T>C | CA349014266 | SCN2A | c.2663T>C (p.Leu888Ser) c.*982T>C (n.*982T>C) c.*650T>C (n.*650T>C) c.*3186T>C (n.*3186T>C) c.*605T>C (n.*605T>C) c.2267T>C (p.Leu756Ser) c.101T>C (p.Leu34Ser) c.514T>C n.2806T>C c.2633T>C (p.Leu878Ser) c.1910T>C (p.Leu637Ser) c.461T>C (p.Leu154Ser) | gnomAD v3 gnomAD v4 |
2 | g.165344655T>G | CA349014268 | SCN2A | c.2663T>G (p.Leu888Trp) c.*982T>G (n.*982T>G) c.*650T>G (n.*650T>G) c.*3186T>G (n.*3186T>G) c.*605T>G (n.*605T>G) c.2267T>G (p.Leu756Trp) c.101T>G (p.Leu34Trp) c.514T>G n.2806T>G c.2633T>G (p.Leu878Trp) c.1910T>G (p.Leu637Trp) c.461T>G (p.Leu154Trp) | |
2 | g.165344656G>A | CA429972051 | SCN2A | c.2664G>A (p.Leu888=) c.*983G>A (n.*983G>A) c.*651G>A (n.*651G>A) c.*3187G>A (n.*3187G>A) c.*606G>A (n.*606G>A) c.2268G>A (p.Leu756=) c.102G>A (p.Leu34=) c.515G>A n.2807G>A c.2634G>A (p.Leu878=) c.1911G>A (p.Leu637=) c.462G>A (p.Leu154=) | ClinVar dbSNP |
2 | g.165344656G>C | CA349014272 | SCN2A | c.2664G>C (p.Leu888Phe) c.*983G>C (n.*983G>C) c.*651G>C (n.*651G>C) c.*3187G>C (n.*3187G>C) c.*606G>C (n.*606G>C) c.2268G>C (p.Leu756Phe) c.102G>C (p.Leu34Phe) c.515G>C n.2807G>C c.2634G>C (p.Leu878Phe) c.1911G>C (p.Leu637Phe) c.462G>C (p.Leu154Phe) | |
2 | g.165344656G= | CA1304545482 | SCN2A | c.2664G= (p.Leu888=) c.*983G= (n.*983G=) c.*651G= (n.*651G=) c.*3187G= (n.*3187G=) c.*606G= (n.*606G=) c.2268G= (p.Leu756=) c.102G= (p.Leu34=) c.515G= n.2807G= c.2634G= (p.Leu878=) c.1911G= (p.Leu637=) c.462G= (p.Leu154=) | |
2 | g.165344656G>T | CA349014273 | SCN2A | c.2664G>T (p.Leu888Phe) c.*983G>T (n.*983G>T) c.*651G>T (n.*651G>T) c.*3187G>T (n.*3187G>T) c.*606G>T (n.*606G>T) c.2268G>T (p.Leu756Phe) c.102G>T (p.Leu34Phe) c.515G>T n.2807G>T c.2634G>T (p.Leu878Phe) c.1911G>T (p.Leu637Phe) c.462G>T (p.Leu154Phe) | gnomAD v3 gnomAD v4 |
2 | g.165344657G>A | CA349014274 | SCN2A | c.2665G>A (p.Ala889Thr) c.*984G>A (n.*984G>A) c.*652G>A (n.*652G>A) c.*3188G>A (n.*3188G>A) c.*607G>A (n.*607G>A) c.2269G>A (p.Ala757Thr) c.103G>A (p.Ala35Thr) c.516G>A n.2808G>A c.2635G>A (p.Ala879Thr) c.1912G>A (p.Ala638Thr) c.463G>A (p.Ala155Thr) | gnomAD v4 COSMIC |
2 | g.165344657G>C | CA349014275 | SCN2A | c.2665G>C (p.Ala889Pro) c.*984G>C (n.*984G>C) c.*652G>C (n.*652G>C) c.*3188G>C (n.*3188G>C) c.*607G>C (n.*607G>C) c.2269G>C (p.Ala757Pro) c.103G>C (p.Ala35Pro) c.516G>C n.2808G>C c.2635G>C (p.Ala879Pro) c.1912G>C (p.Ala638Pro) c.463G>C (p.Ala155Pro) | |
2 | g.165344657G>T | CA349014276 | SCN2A | c.2665G>T (p.Ala889Ser) c.*984G>T (n.*984G>T) c.*652G>T (n.*652G>T) c.*3188G>T (n.*3188G>T) c.*607G>T (n.*607G>T) c.2269G>T (p.Ala757Ser) c.103G>T (p.Ala35Ser) c.516G>T n.2808G>T c.2635G>T (p.Ala879Ser) c.1912G>T (p.Ala638Ser) c.463G>T (p.Ala155Ser) | |
2 | g.165344658C>A | CA349014277 | SCN2A | c.2666C>A (p.Ala889Asp) c.*985C>A (n.*985C>A) c.*653C>A (n.*653C>A) c.*3189C>A (n.*3189C>A) c.*608C>A (n.*608C>A) c.2270C>A (p.Ala757Asp) c.104C>A (p.Ala35Asp) c.517C>A n.2809C>A c.2636C>A (p.Ala879Asp) c.1913C>A (p.Ala638Asp) c.464C>A (p.Ala155Asp) | |
2 | g.165344658C>G | CA349014281 | SCN2A | c.2666C>G (p.Ala889Gly) c.*985C>G (n.*985C>G) c.*653C>G (n.*653C>G) c.*3189C>G (n.*3189C>G) c.*608C>G (n.*608C>G) c.2270C>G (p.Ala757Gly) c.104C>G (p.Ala35Gly) c.517C>G n.2809C>G c.2636C>G (p.Ala879Gly) c.1913C>G (p.Ala638Gly) c.464C>G (p.Ala155Gly) | |
2 | g.165344658C>T | CA349014279 | SCN2A | c.2666C>T (p.Ala889Val) c.*985C>T (n.*985C>T) c.*653C>T (n.*653C>T) c.*3189C>T (n.*3189C>T) c.*608C>T (n.*608C>T) c.2270C>T (p.Ala757Val) c.104C>T (p.Ala35Val) c.517C>T n.2809C>T c.2636C>T (p.Ala879Val) c.1913C>T (p.Ala638Val) c.464C>T (p.Ala155Val) | |
2 | g.165344659C>A | CA429972057 | SCN2A | c.2667C>A (p.Ala889=) c.*986C>A (n.*986C>A) c.*654C>A (n.*654C>A) c.*3190C>A (n.*3190C>A) c.*609C>A (n.*609C>A) c.2271C>A (p.Ala757=) c.105C>A (p.Ala35=) c.518C>A n.2810C>A c.2637C>A (p.Ala879=) c.1914C>A (p.Ala638=) c.465C>A (p.Ala155=) | |
2 | g.165344659C= | CA1304545483 | SCN2A | c.2667C= (p.Ala889=) c.*986C= (n.*986C=) c.*654C= (n.*654C=) c.*3190C= (n.*3190C=) c.*609C= (n.*609C=) c.2271C= (p.Ala757=) c.105C= (p.Ala35=) c.518C= n.2810C= c.2637C= (p.Ala879=) c.1914C= (p.Ala638=) c.465C= (p.Ala155=) | |
2 | g.165344659C>G | CA429972059 | SCN2A | c.2667C>G (p.Ala889=) c.*986C>G (n.*986C>G) c.*654C>G (n.*654C>G) c.*3190C>G (n.*3190C>G) c.*609C>G (n.*609C>G) c.2271C>G (p.Ala757=) c.105C>G (p.Ala35=) c.518C>G n.2810C>G c.2637C>G (p.Ala879=) c.1914C>G (p.Ala638=) c.465C>G (p.Ala155=) | |
2 | g.165344659C>T | CA1940013 | SCN2A | c.2667C>T (p.Ala889=) c.*986C>T (n.*986C>T) c.*654C>T (n.*654C>T) c.*3190C>T (n.*3190C>T) c.*609C>T (n.*609C>T) c.2271C>T (p.Ala757=) c.105C>T (p.Ala35=) c.518C>T n.2810C>T c.2637C>T (p.Ala879=) c.1914C>T (p.Ala638=) c.465C>T (p.Ala155=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165344660A>C | CA349014283 | SCN2A | c.2668A>C (p.Ile890Leu) c.*987A>C (n.*987A>C) c.*655A>C (n.*655A>C) c.*3191A>C (n.*3191A>C) c.*610A>C (n.*610A>C) c.2272A>C (p.Ile758Leu) c.106A>C (p.Ile36Leu) c.519A>C n.2811A>C c.2638A>C (p.Ile880Leu) c.1915A>C (p.Ile639Leu) c.466A>C (p.Ile156Leu) | |
2 | g.165344660A>G | CA349014284 | SCN2A | c.2668A>G (p.Ile890Val) c.*987A>G (n.*987A>G) c.*655A>G (n.*655A>G) c.*3191A>G (n.*3191A>G) c.*610A>G (n.*610A>G) c.2272A>G (p.Ile758Val) c.106A>G (p.Ile36Val) c.519A>G n.2811A>G c.2638A>G (p.Ile880Val) c.1915A>G (p.Ile639Val) c.466A>G (p.Ile156Val) | |
2 | g.165344660A>T | CA349014286 | SCN2A | c.2668A>T (p.Ile890Phe) c.*987A>T (n.*987A>T) c.*655A>T (n.*655A>T) c.*3191A>T (n.*3191A>T) c.*610A>T (n.*610A>T) c.2272A>T (p.Ile758Phe) c.106A>T (p.Ile36Phe) c.519A>T n.2811A>T c.2638A>T (p.Ile880Phe) c.1915A>T (p.Ile639Phe) c.466A>T (p.Ile156Phe) | |
2 | g.165344661T>A | CA349014289 | SCN2A | c.2669T>A (p.Ile890Asn) c.*988T>A (n.*988T>A) c.*656T>A (n.*656T>A) c.*3192T>A (n.*3192T>A) c.*611T>A (n.*611T>A) c.2273T>A (p.Ile758Asn) c.107T>A (p.Ile36Asn) c.520T>A n.2812T>A c.2639T>A (p.Ile880Asn) c.1916T>A (p.Ile639Asn) c.467T>A (p.Ile156Asn) | |
2 | g.165344661T>C | CA349014299 | SCN2A | c.2669T>C (p.Ile890Thr) c.*988T>C (n.*988T>C) c.*656T>C (n.*656T>C) c.*3192T>C (n.*3192T>C) c.*611T>C (n.*611T>C) c.2273T>C (p.Ile758Thr) c.107T>C (p.Ile36Thr) c.520T>C n.2812T>C c.2639T>C (p.Ile880Thr) c.1916T>C (p.Ile639Thr) c.467T>C (p.Ile156Thr) | |
2 | g.165344661T>G | CA349014301 | SCN2A | c.2669T>G (p.Ile890Ser) c.*988T>G (n.*988T>G) c.*656T>G (n.*656T>G) c.*3192T>G (n.*3192T>G) c.*611T>G (n.*611T>G) c.2273T>G (p.Ile758Ser) c.107T>G (p.Ile36Ser) c.520T>G n.2812T>G c.2639T>G (p.Ile880Ser) c.1916T>G (p.Ile639Ser) c.467T>G (p.Ile156Ser) | |
2 | g.165344662C>A | CA429972063 | SCN2A | c.2670C>A (p.Ile890=) c.*989C>A (n.*989C>A) c.*657C>A (n.*657C>A) c.*3193C>A (n.*3193C>A) c.*612C>A (n.*612C>A) c.2274C>A (p.Ile758=) c.108C>A (p.Ile36=) c.521C>A n.2813C>A c.2640C>A (p.Ile880=) c.1917C>A (p.Ile639=) c.468C>A (p.Ile156=) | dbSNP |
2 | g.165344662C>G | CA349014303 | SCN2A | c.2670C>G (p.Ile890Met) c.*989C>G (n.*989C>G) c.*657C>G (n.*657C>G) c.*3193C>G (n.*3193C>G) c.*612C>G (n.*612C>G) c.2274C>G (p.Ile758Met) c.108C>G (p.Ile36Met) c.521C>G n.2813C>G c.2640C>G (p.Ile880Met) c.1917C>G (p.Ile639Met) c.468C>G (p.Ile156Met) | |
2 | g.165344662C>T | CA429972064 | SCN2A | c.2670C>T (p.Ile890=) c.*989C>T (n.*989C>T) c.*657C>T (n.*657C>T) c.*3193C>T (n.*3193C>T) c.*612C>T (n.*612C>T) c.2274C>T (p.Ile758=) c.108C>T (p.Ile36=) c.521C>T n.2813C>T c.2640C>T (p.Ile880=) c.1917C>T (p.Ile639=) c.468C>T (p.Ile156=) | |
2 | g.165344663A>C | CA349014305 | SCN2A | c.2671A>C (p.Ile891Leu) c.*990A>C (n.*990A>C) c.*658A>C (n.*658A>C) c.*3194A>C (n.*3194A>C) c.*613A>C (n.*613A>C) c.2275A>C (p.Ile759Leu) c.109A>C (p.Ile37Leu) c.522A>C n.2814A>C c.2641A>C (p.Ile881Leu) c.1918A>C (p.Ile640Leu) c.469A>C (p.Ile157Leu) | |
2 | g.165344663A>G | CA349014314 | SCN2A | c.2671A>G (p.Ile891Val) c.*990A>G (n.*990A>G) c.*658A>G (n.*658A>G) c.*3194A>G (n.*3194A>G) c.*613A>G (n.*613A>G) c.2275A>G (p.Ile759Val) c.109A>G (p.Ile37Val) c.522A>G n.2814A>G c.2641A>G (p.Ile881Val) c.1918A>G (p.Ile640Val) c.469A>G (p.Ile157Val) | |
2 | g.165344663A>T | CA349014318 | SCN2A | c.2671A>T (p.Ile891Phe) c.*990A>T (n.*990A>T) c.*658A>T (n.*658A>T) c.*3194A>T (n.*3194A>T) c.*613A>T (n.*613A>T) c.2275A>T (p.Ile759Phe) c.109A>T (p.Ile37Phe) c.522A>T n.2814A>T c.2641A>T (p.Ile881Phe) c.1918A>T (p.Ile640Phe) c.469A>T (p.Ile157Phe) | |
2 | g.165344664T>A | CA349014329 | SCN2A | c.2672T>A (p.Ile891Asn) c.*991T>A (n.*991T>A) c.*659T>A (n.*659T>A) c.*3195T>A (n.*3195T>A) c.*614T>A (n.*614T>A) c.2276T>A (p.Ile759Asn) c.110T>A (p.Ile37Asn) c.523T>A n.2815T>A c.2642T>A (p.Ile881Asn) c.1919T>A (p.Ile640Asn) c.470T>A (p.Ile157Asn) | ClinVar dbSNP |
2 | g.165344664T>C | CA349014321 | SCN2A | c.2672T>C (p.Ile891Thr) c.*991T>C (n.*991T>C) c.*659T>C (n.*659T>C) c.*3195T>C (n.*3195T>C) c.*614T>C (n.*614T>C) c.2276T>C (p.Ile759Thr) c.110T>C (p.Ile37Thr) c.523T>C n.2815T>C c.2642T>C (p.Ile881Thr) c.1919T>C (p.Ile640Thr) c.470T>C (p.Ile157Thr) | |
2 | g.165344664T>G | CA349014325 | SCN2A | c.2672T>G (p.Ile891Ser) c.*991T>G (n.*991T>G) c.*659T>G (n.*659T>G) c.*3195T>G (n.*3195T>G) c.*614T>G (n.*614T>G) c.2276T>G (p.Ile759Ser) c.110T>G (p.Ile37Ser) c.523T>G n.2815T>G c.2642T>G (p.Ile881Ser) c.1919T>G (p.Ile640Ser) c.470T>G (p.Ile157Ser) | |
2 | g.165344665C>A | CA429972070 | SCN2A | c.2673C>A (p.Ile891=) c.*992C>A (n.*992C>A) c.*660C>A (n.*660C>A) c.*3196C>A (n.*3196C>A) c.*615C>A (n.*615C>A) c.2277C>A (p.Ile759=) c.111C>A (p.Ile37=) c.524C>A n.2816C>A c.2643C>A (p.Ile881=) c.1920C>A (p.Ile640=) c.471C>A (p.Ile157=) | COSMIC COSMIC |
2 | g.165344665C= | CA1304545484 | SCN2A | c.2673C= (p.Ile891=) c.*992C= (n.*992C=) c.*660C= (n.*660C=) c.*3196C= (n.*3196C=) c.*615C= (n.*615C=) c.2277C= (p.Ile759=) c.111C= (p.Ile37=) c.524C= n.2816C= c.2643C= (p.Ile881=) c.1920C= (p.Ile640=) c.471C= (p.Ile157=) | |
2 | g.165344665C>G | CA349014333 | SCN2A | c.2673C>G (p.Ile891Met) c.*992C>G (n.*992C>G) c.*660C>G (n.*660C>G) c.*3196C>G (n.*3196C>G) c.*615C>G (n.*615C>G) c.2277C>G (p.Ile759Met) c.111C>G (p.Ile37Met) c.524C>G n.2816C>G c.2643C>G (p.Ile881Met) c.1920C>G (p.Ile640Met) c.471C>G (p.Ile157Met) | |
2 | g.165344665C>T | CA209505 | SCN2A | c.2673C>T (p.Ile891=) c.*992C>T (n.*992C>T) c.*660C>T (n.*660C>T) c.*3196C>T (n.*3196C>T) c.*615C>T (n.*615C>T) c.2277C>T (p.Ile759=) c.111C>T (p.Ile37=) c.524C>T n.2816C>T c.2643C>T (p.Ile881=) c.1920C>T (p.Ile640=) c.471C>T (p.Ile157=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.165344666G>A | CA122770 | SCN2A | c.2674G>A (p.Val892Ile) c.*993G>A (n.*993G>A) c.*661G>A (n.*661G>A) c.*3197G>A (n.*3197G>A) c.*616G>A (n.*616G>A) c.2278G>A (p.Val760Ile) c.112G>A (p.Val38Ile) c.525G>A n.2817G>A c.2644G>A (p.Val882Ile) c.1921G>A (p.Val641Ile) c.472G>A (p.Val158Ile) | ClinVar dbSNP gnomAD v4 |
2 | g.165344666G>C | CA349014345 | SCN2A | c.2674G>C (p.Val892Leu) c.*993G>C (n.*993G>C) c.*661G>C (n.*661G>C) c.*3197G>C (n.*3197G>C) c.*616G>C (n.*616G>C) c.2278G>C (p.Val760Leu) c.112G>C (p.Val38Leu) c.525G>C n.2817G>C c.2644G>C (p.Val882Leu) c.1921G>C (p.Val641Leu) c.472G>C (p.Val158Leu) | |
2 | g.165344666G= | CA1304545485 | SCN2A | c.2674G= (p.Val892=) c.*993G= (n.*993G=) c.*661G= (n.*661G=) c.*3197G= (n.*3197G=) c.*616G= (n.*616G=) c.2278G= (p.Val760=) c.112G= (p.Val38=) c.525G= n.2817G= c.2644G= (p.Val882=) c.1921G= (p.Val641=) c.472G= (p.Val158=) | |
2 | g.165344666G>T | CA349014349 | SCN2A | c.2674G>T (p.Val892Phe) c.*993G>T (n.*993G>T) c.*661G>T (n.*661G>T) c.*3197G>T (n.*3197G>T) c.*616G>T (n.*616G>T) c.2278G>T (p.Val760Phe) c.112G>T (p.Val38Phe) c.525G>T n.2817G>T c.2644G>T (p.Val882Phe) c.1921G>T (p.Val641Phe) c.472G>T (p.Val158Phe) | ClinVar |
2 | g.165344667T>A | CA349014353 | SCN2A | c.2675T>A (p.Val892Asp) c.*994T>A (n.*994T>A) c.*662T>A (n.*662T>A) c.*3198T>A (n.*3198T>A) c.*617T>A (n.*617T>A) c.2279T>A (p.Val760Asp) c.113T>A (p.Val38Asp) c.526T>A n.2818T>A c.2645T>A (p.Val882Asp) c.1922T>A (p.Val641Asp) c.473T>A (p.Val158Asp) | |
2 | g.165344667T>C | CA349014355 | SCN2A | c.2675T>C (p.Val892Ala) c.*994T>C (n.*994T>C) c.*662T>C (n.*662T>C) c.*3198T>C (n.*3198T>C) c.*617T>C (n.*617T>C) c.2279T>C (p.Val760Ala) c.113T>C (p.Val38Ala) c.526T>C n.2818T>C c.2645T>C (p.Val882Ala) c.1922T>C (p.Val641Ala) c.473T>C (p.Val158Ala) | |
2 | g.165344667T>G | CA349014358 | SCN2A | c.2675T>G (p.Val892Gly) c.*994T>G (n.*994T>G) c.*662T>G (n.*662T>G) c.*3198T>G (n.*3198T>G) c.*617T>G (n.*617T>G) c.2279T>G (p.Val760Gly) c.113T>G (p.Val38Gly) c.526T>G n.2818T>G c.2645T>G (p.Val882Gly) c.1922T>G (p.Val641Gly) c.473T>G (p.Val158Gly) | |
2 | g.165344668C>A | CA429972078 | SCN2A | c.2676C>A (p.Val892=) c.*995C>A (n.*995C>A) c.*663C>A (n.*663C>A) c.*3199C>A (n.*3199C>A) c.*618C>A (n.*618C>A) c.2280C>A (p.Val760=) c.114C>A (p.Val38=) c.527C>A n.2819C>A c.2646C>A (p.Val882=) c.1923C>A (p.Val641=) c.474C>A (p.Val158=) | |
2 | g.165344668C>G | CA429972081 | SCN2A | c.2676C>G (p.Val892=) c.*995C>G (n.*995C>G) c.*663C>G (n.*663C>G) c.*3199C>G (n.*3199C>G) c.*618C>G (n.*618C>G) c.2280C>G (p.Val760=) c.114C>G (p.Val38=) c.527C>G n.2819C>G c.2646C>G (p.Val882=) c.1923C>G (p.Val641=) c.474C>G (p.Val158=) | |
2 | g.165344668C>T | CA429972079 | SCN2A | c.2676C>T (p.Val892=) c.*995C>T (n.*995C>T) c.*663C>T (n.*663C>T) c.*3199C>T (n.*3199C>T) c.*618C>T (n.*618C>T) c.2280C>T (p.Val760=) c.114C>T (p.Val38=) c.527C>T n.2819C>T c.2646C>T (p.Val882=) c.1923C>T (p.Val641=) c.474C>T (p.Val158=) | |
2 | g.165344669T>A | CA349014362 | SCN2A | c.2677T>A (p.Phe893Ile) c.*996T>A (n.*996T>A) c.*664T>A (n.*664T>A) c.*3200T>A (n.*3200T>A) c.*619T>A (n.*619T>A) c.2281T>A (p.Phe761Ile) c.115T>A (p.Phe39Ile) c.528T>A n.2820T>A c.2647T>A (p.Phe883Ile) c.1924T>A (p.Phe642Ile) c.475T>A (p.Phe159Ile) | |
2 | g.165344669T>C | CA349014371 | SCN2A | c.2677T>C (p.Phe893Leu) c.*996T>C (n.*996T>C) c.*664T>C (n.*664T>C) c.*3200T>C (n.*3200T>C) c.*619T>C (n.*619T>C) c.2281T>C (p.Phe761Leu) c.115T>C (p.Phe39Leu) c.528T>C n.2820T>C c.2647T>C (p.Phe883Leu) c.1924T>C (p.Phe642Leu) c.475T>C (p.Phe159Leu) | |
2 | g.165344669T>G | CA349014365 | SCN2A | c.2677T>G (p.Phe893Val) c.*996T>G (n.*996T>G) c.*664T>G (n.*664T>G) c.*3200T>G (n.*3200T>G) c.*619T>G (n.*619T>G) c.2281T>G (p.Phe761Val) c.115T>G (p.Phe39Val) c.528T>G n.2820T>G c.2647T>G (p.Phe883Val) c.1924T>G (p.Phe642Val) c.475T>G (p.Phe159Val) | |
2 | g.165344670T>A | CA349014375 | SCN2A | c.2678T>A (p.Phe893Tyr) c.*997T>A (n.*997T>A) c.*665T>A (n.*665T>A) c.*3201T>A (n.*3201T>A) c.*620T>A (n.*620T>A) c.2282T>A (p.Phe761Tyr) c.116T>A (p.Phe39Tyr) c.529T>A n.2821T>A c.2648T>A (p.Phe883Tyr) c.1925T>A (p.Phe642Tyr) c.476T>A (p.Phe159Tyr) | |
2 | g.165344670T>C | CA349014378 | SCN2A | c.2678T>C (p.Phe893Ser) c.*997T>C (n.*997T>C) c.*665T>C (n.*665T>C) c.*3201T>C (n.*3201T>C) c.*620T>C (n.*620T>C) c.2282T>C (p.Phe761Ser) c.116T>C (p.Phe39Ser) c.529T>C n.2821T>C c.2648T>C (p.Phe883Ser) c.1925T>C (p.Phe642Ser) c.476T>C (p.Phe159Ser) | |
2 | g.165344670T>G | CA349014381 | SCN2A | c.2678T>G (p.Phe893Cys) c.*997T>G (n.*997T>G) c.*665T>G (n.*665T>G) c.*3201T>G (n.*3201T>G) c.*620T>G (n.*620T>G) c.2282T>G (p.Phe761Cys) c.116T>G (p.Phe39Cys) c.529T>G n.2821T>G c.2648T>G (p.Phe883Cys) c.1925T>G (p.Phe642Cys) c.476T>G (p.Phe159Cys) | |
2 | g.165344671C>A | CA349014385 | SCN2A | c.2679C>A (p.Phe893Leu) c.*998C>A (n.*998C>A) c.*666C>A (n.*666C>A) c.*3202C>A (n.*3202C>A) c.*621C>A (n.*621C>A) c.2283C>A (p.Phe761Leu) c.117C>A (p.Phe39Leu) c.530C>A n.2822C>A c.2649C>A (p.Phe883Leu) c.1926C>A (p.Phe642Leu) c.477C>A (p.Phe159Leu) | |
2 | g.165344671C= | CA1304545486 | SCN2A | c.2679C= (p.Phe893=) c.*998C= (n.*998C=) c.*666C= (n.*666C=) c.*3202C= (n.*3202C=) c.*621C= (n.*621C=) c.2283C= (p.Phe761=) c.117C= (p.Phe39=) c.530C= n.2822C= c.2649C= (p.Phe883=) c.1926C= (p.Phe642=) c.477C= (p.Phe159=) | |
2 | g.165344671C>G | CA349014389 | SCN2A | c.2679C>G (p.Phe893Leu) c.*998C>G (n.*998C>G) c.*666C>G (n.*666C>G) c.*3202C>G (n.*3202C>G) c.*621C>G (n.*621C>G) c.2283C>G (p.Phe761Leu) c.117C>G (p.Phe39Leu) c.530C>G n.2822C>G c.2649C>G (p.Phe883Leu) c.1926C>G (p.Phe642Leu) c.477C>G (p.Phe159Leu) | |
2 | g.165344671C>T | CA59719987 | SCN2A | c.2679C>T (p.Phe893=) c.*998C>T (n.*998C>T) c.*666C>T (n.*666C>T) c.*3202C>T (n.*3202C>T) c.*621C>T (n.*621C>T) c.2283C>T (p.Phe761=) c.117C>T (p.Phe39=) c.530C>T n.2822C>T c.2649C>T (p.Phe883=) c.1926C>T (p.Phe642=) c.477C>T (p.Phe159=) | dbSNP |
2 | g.165344672A>C | CA349014392 | SCN2A | c.2680A>C (p.Ile894Leu) c.*999A>C (n.*999A>C) c.*667A>C (n.*667A>C) c.*3203A>C (n.*3203A>C) c.*622A>C (n.*622A>C) c.2284A>C (p.Ile762Leu) c.118A>C (p.Ile40Leu) c.531A>C n.2823A>C c.2650A>C (p.Ile884Leu) c.1927A>C (p.Ile643Leu) c.478A>C (p.Ile160Leu) | ClinVar dbSNP |
2 | g.165344672A>G | CA349014400 | SCN2A | c.2680A>G (p.Ile894Val) c.*999A>G (n.*999A>G) c.*667A>G (n.*667A>G) c.*3203A>G (n.*3203A>G) c.*622A>G (n.*622A>G) c.2284A>G (p.Ile762Val) c.118A>G (p.Ile40Val) c.531A>G n.2823A>G c.2650A>G (p.Ile884Val) c.1927A>G (p.Ile643Val) c.478A>G (p.Ile160Val) | gnomAD v4 |
2 | g.165344672A>T | CA349014396 | SCN2A | c.2680A>T (p.Ile894Phe) c.*999A>T (n.*999A>T) c.*667A>T (n.*667A>T) c.*3203A>T (n.*3203A>T) c.*622A>T (n.*622A>T) c.2284A>T (p.Ile762Phe) c.118A>T (p.Ile40Phe) c.531A>T n.2823A>T c.2650A>T (p.Ile884Phe) c.1927A>T (p.Ile643Phe) c.478A>T (p.Ile160Phe) | |
2 | g.165344672_165344678delinsCTTTTTT | CA2573133612 | SCN2A | c.2680_2686delinsCTTTTTT (p.Ile894_Ala896delinsLeuPheSer) c.*999_*1005delinsCTTTTTT (n.*999_*1005delinsCTTTTTT) c.*667_*673delinsCTTTTTT (n.*667_*673delinsCTTTTTT) c.*3203_*3209delinsCTTTTTT (n.*3203_*3209delinsCTTTTTT) c.*622_*628delinsCTTTTTT (n.*622_*628delinsCTTTTTT) c.2284_2290delinsCTTTTTT (p.Ile762_Ala764delinsLeuPheSer) c.118_124delinsCTTTTTT (p.Ile40_Ala42delinsLeuPheSer) c.531_537delinsCTTTTTT n.2823_2829delinsCTTTTTT c.2650_2656delinsCTTTTTT (p.Ile884_Ala886delinsLeuPheSer) c.1927_1933delinsCTTTTTT (p.Ile643_Ala645delinsLeuPheSer) c.478_484delinsCTTTTTT (p.Ile160_Ala162delinsLeuPheSer) | ClinVar dbSNP |
2 | g.165344673T>A | CA349014404 | SCN2A | c.2681T>A (p.Ile894Asn) c.*1000T>A (n.*1000T>A) c.*668T>A (n.*668T>A) c.*3204T>A (n.*3204T>A) c.*623T>A (n.*623T>A) c.2285T>A (p.Ile762Asn) c.119T>A (p.Ile40Asn) c.532T>A n.2824T>A c.2651T>A (p.Ile884Asn) c.1928T>A (p.Ile643Asn) c.479T>A (p.Ile160Asn) | |
2 | g.165344673T>C | CA349014407 | SCN2A | c.2681T>C (p.Ile894Thr) c.*1000T>C (n.*1000T>C) c.*668T>C (n.*668T>C) c.*3204T>C (n.*3204T>C) c.*623T>C (n.*623T>C) c.2285T>C (p.Ile762Thr) c.119T>C (p.Ile40Thr) c.532T>C n.2824T>C c.2651T>C (p.Ile884Thr) c.1928T>C (p.Ile643Thr) c.479T>C (p.Ile160Thr) | |
2 | g.165344673T>G | CA349014412 | SCN2A | c.2681T>G (p.Ile894Ser) c.*1000T>G (n.*1000T>G) c.*668T>G (n.*668T>G) c.*3204T>G (n.*3204T>G) c.*623T>G (n.*623T>G) c.2285T>G (p.Ile762Ser) c.119T>G (p.Ile40Ser) c.532T>G n.2824T>G c.2651T>G (p.Ile884Ser) c.1928T>G (p.Ile643Ser) c.479T>G (p.Ile160Ser) | |
2 | g.165344673T= | CA1304545487 | SCN2A | c.2681T= (p.Ile894=) c.*1000T= (n.*1000T=) c.*668T= (n.*668T=) c.*3204T= (n.*3204T=) c.*623T= (n.*623T=) c.2285T= (p.Ile762=) c.119T= (p.Ile40=) c.532T= n.2824T= c.2651T= (p.Ile884=) c.1928T= (p.Ile643=) c.479T= (p.Ile160=) | |
2 | g.165344674T>A | CA429972095 | SCN2A | c.2682T>A (p.Ile894=) c.*1001T>A (n.*1001T>A) c.*669T>A (n.*669T>A) c.*3205T>A (n.*3205T>A) c.*624T>A (n.*624T>A) c.2286T>A (p.Ile762=) c.120T>A (p.Ile40=) c.533T>A n.2825T>A c.2652T>A (p.Ile884=) c.1929T>A (p.Ile643=) c.480T>A (p.Ile160=) | |
2 | g.165344674T>C | CA429972097 | SCN2A | c.2682T>C (p.Ile894=) c.*1001T>C (n.*1001T>C) c.*669T>C (n.*669T>C) c.*3205T>C (n.*3205T>C) c.*624T>C (n.*624T>C) c.2286T>C (p.Ile762=) c.120T>C (p.Ile40=) c.533T>C n.2825T>C c.2652T>C (p.Ile884=) c.1929T>C (p.Ile643=) c.480T>C (p.Ile160=) | |
2 | g.165344674T>G | CA349014417 | SCN2A | c.2682T>G (p.Ile894Met) c.*1001T>G (n.*1001T>G) c.*669T>G (n.*669T>G) c.*3205T>G (n.*3205T>G) c.*624T>G (n.*624T>G) c.2286T>G (p.Ile762Met) c.120T>G (p.Ile40Met) c.533T>G n.2825T>G c.2652T>G (p.Ile884Met) c.1929T>G (p.Ile643Met) c.480T>G (p.Ile160Met) | |
2 | g.165344675T>A | CA349014420 | SCN2A | c.2683T>A (p.Phe895Ile) c.*1002T>A (n.*1002T>A) c.*670T>A (n.*670T>A) c.*3206T>A (n.*3206T>A) c.*625T>A (n.*625T>A) c.2287T>A (p.Phe763Ile) c.121T>A (p.Phe41Ile) c.534T>A n.2826T>A c.2653T>A (p.Phe885Ile) c.1930T>A (p.Phe644Ile) c.481T>A (p.Phe161Ile) | |
2 | g.165344675T>C | CA349014421 | SCN2A | c.2683T>C (p.Phe895Leu) c.*1002T>C (n.*1002T>C) c.*670T>C (n.*670T>C) c.*3206T>C (n.*3206T>C) c.*625T>C (n.*625T>C) c.2287T>C (p.Phe763Leu) c.121T>C (p.Phe41Leu) c.534T>C n.2826T>C c.2653T>C (p.Phe885Leu) c.1930T>C (p.Phe644Leu) c.481T>C (p.Phe161Leu) | |
2 | g.165344675T>G | CA349014424 | SCN2A | c.2683T>G (p.Phe895Val) c.*1002T>G (n.*1002T>G) c.*670T>G (n.*670T>G) c.*3206T>G (n.*3206T>G) c.*625T>G (n.*625T>G) c.2287T>G (p.Phe763Val) c.121T>G (p.Phe41Val) c.534T>G n.2826T>G c.2653T>G (p.Phe885Val) c.1930T>G (p.Phe644Val) c.481T>G (p.Phe161Val) | |
2 | g.165344676T>A | CA349014427 | SCN2A | c.2684T>A (p.Phe895Tyr) c.*1003T>A (n.*1003T>A) c.*671T>A (n.*671T>A) c.*3207T>A (n.*3207T>A) c.*626T>A (n.*626T>A) c.2288T>A (p.Phe763Tyr) c.122T>A (p.Phe41Tyr) c.535T>A n.2827T>A c.2654T>A (p.Phe885Tyr) c.1931T>A (p.Phe644Tyr) c.482T>A (p.Phe161Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.165344676T>C | CA349014428 | SCN2A | c.2684T>C (p.Phe895Ser) c.*1003T>C (n.*1003T>C) c.*671T>C (n.*671T>C) c.*3207T>C (n.*3207T>C) c.*626T>C (n.*626T>C) c.2288T>C (p.Phe763Ser) c.122T>C (p.Phe41Ser) c.535T>C n.2827T>C c.2654T>C (p.Phe885Ser) c.1931T>C (p.Phe644Ser) c.482T>C (p.Phe161Ser) | |
2 | g.165344676T>G | CA349014429 | SCN2A | c.2684T>G (p.Phe895Cys) c.*1003T>G (n.*1003T>G) c.*671T>G (n.*671T>G) c.*3207T>G (n.*3207T>G) c.*626T>G (n.*626T>G) c.2288T>G (p.Phe763Cys) c.122T>G (p.Phe41Cys) c.535T>G n.2827T>G c.2654T>G (p.Phe885Cys) c.1931T>G (p.Phe644Cys) c.482T>G (p.Phe161Cys) | |
2 | g.165344676T= | CA1304545488 | SCN2A | c.2684T= (p.Phe895=) c.*1003T= (n.*1003T=) c.*671T= (n.*671T=) c.*3207T= (n.*3207T=) c.*626T= (n.*626T=) c.2288T= (p.Phe763=) c.122T= (p.Phe41=) c.535T= n.2827T= c.2654T= (p.Phe885=) c.1931T= (p.Phe644=) c.482T= (p.Phe161=) | |
2 | g.165344677T>A | CA349014430 | SCN2A | c.2685T>A (p.Phe895Leu) c.*1004T>A (n.*1004T>A) c.*672T>A (n.*672T>A) c.*3208T>A (n.*3208T>A) c.*627T>A (n.*627T>A) c.2289T>A (p.Phe763Leu) c.123T>A (p.Phe41Leu) c.536T>A n.2828T>A c.2655T>A (p.Phe885Leu) c.1932T>A (p.Phe644Leu) c.483T>A (p.Phe161Leu) | |
2 | g.165344677T>C | CA429972109 | SCN2A | c.2685T>C (p.Phe895=) c.*1004T>C (n.*1004T>C) c.*672T>C (n.*672T>C) c.*3208T>C (n.*3208T>C) c.*627T>C (n.*627T>C) c.2289T>C (p.Phe763=) c.123T>C (p.Phe41=) c.536T>C n.2828T>C c.2655T>C (p.Phe885=) c.1932T>C (p.Phe644=) c.483T>C (p.Phe161=) | |
2 | g.165344677T>G | CA349014431 | SCN2A | c.2685T>G (p.Phe895Leu) c.*1004T>G (n.*1004T>G) c.*672T>G (n.*672T>G) c.*3208T>G (n.*3208T>G) c.*627T>G (n.*627T>G) c.2289T>G (p.Phe763Leu) c.123T>G (p.Phe41Leu) c.536T>G n.2828T>G c.2655T>G (p.Phe885Leu) c.1932T>G (p.Phe644Leu) c.483T>G (p.Phe161Leu) | |
2 | g.165344678G>A | CA349014437 | SCN2A | c.2686G>A (p.Ala896Thr) c.*1005G>A (n.*1005G>A) c.*673G>A (n.*673G>A) c.*3209G>A (n.*3209G>A) c.*628G>A (n.*628G>A) c.2290G>A (p.Ala764Thr) c.124G>A (p.Ala42Thr) c.537G>A n.2829G>A c.2656G>A (p.Ala886Thr) c.1933G>A (p.Ala645Thr) c.484G>A (p.Ala162Thr) | |
2 | g.165344678G>C | CA349014442 | SCN2A | c.2686G>C (p.Ala896Pro) c.*1005G>C (n.*1005G>C) c.*673G>C (n.*673G>C) c.*3209G>C (n.*3209G>C) c.*628G>C (n.*628G>C) c.2290G>C (p.Ala764Pro) c.124G>C (p.Ala42Pro) c.537G>C n.2829G>C c.2656G>C (p.Ala886Pro) c.1933G>C (p.Ala645Pro) c.484G>C (p.Ala162Pro) | gnomAD v4 |
2 | g.165344678G>T | CA349014439 | SCN2A | c.2686G>T (p.Ala896Ser) c.*1005G>T (n.*1005G>T) c.*673G>T (n.*673G>T) c.*3209G>T (n.*3209G>T) c.*628G>T (n.*628G>T) c.2290G>T (p.Ala764Ser) c.124G>T (p.Ala42Ser) c.537G>T n.2829G>T c.2656G>T (p.Ala886Ser) c.1933G>T (p.Ala645Ser) c.484G>T (p.Ala162Ser) | ClinVar dbSNP |
2 | g.165344679C>A | CA349014444 | SCN2A | c.2687C>A (p.Ala896Asp) c.*1006C>A (n.*1006C>A) c.*674C>A (n.*674C>A) c.*3210C>A (n.*3210C>A) c.*629C>A (n.*629C>A) c.2291C>A (p.Ala764Asp) c.125C>A (p.Ala42Asp) c.538C>A n.2830C>A c.2657C>A (p.Ala886Asp) c.1934C>A (p.Ala645Asp) c.485C>A (p.Ala162Asp) | |
2 | g.165344679C= | CA1304545489 | SCN2A | c.2687C= (p.Ala896=) c.*1006C= (n.*1006C=) c.*674C= (n.*674C=) c.*3210C= (n.*3210C=) c.*629C= (n.*629C=) c.2291C= (p.Ala764=) c.125C= (p.Ala42=) c.538C= n.2830C= c.2657C= (p.Ala886=) c.1934C= (p.Ala645=) c.485C= (p.Ala162=) | |
2 | g.165344679C>G | CA349014445 | SCN2A | c.2687C>G (p.Ala896Gly) c.*1006C>G (n.*1006C>G) c.*674C>G (n.*674C>G) c.*3210C>G (n.*3210C>G) c.*629C>G (n.*629C>G) c.2291C>G (p.Ala764Gly) c.125C>G (p.Ala42Gly) c.538C>G n.2830C>G c.2657C>G (p.Ala886Gly) c.1934C>G (p.Ala645Gly) c.485C>G (p.Ala162Gly) | |
2 | g.165344679C>T | CA16044307 | SCN2A | c.2687C>T (p.Ala896Val) c.*1006C>T (n.*1006C>T) c.*674C>T (n.*674C>T) c.*3210C>T (n.*3210C>T) c.*629C>T (n.*629C>T) c.2291C>T (p.Ala764Val) c.125C>T (p.Ala42Val) c.538C>T n.2830C>T c.2657C>T (p.Ala886Val) c.1934C>T (p.Ala645Val) c.485C>T (p.Ala162Val) | ClinVar dbSNP |
2 | g.165344680T>A | CA429972124 | SCN2A | c.2688T>A (p.Ala896=) c.*1007T>A (n.*1007T>A) c.*675T>A (n.*675T>A) c.*3211T>A (n.*3211T>A) c.*630T>A (n.*630T>A) c.2292T>A (p.Ala764=) c.126T>A (p.Ala42=) c.539T>A n.2831T>A c.2658T>A (p.Ala886=) c.1935T>A (p.Ala645=) c.486T>A (p.Ala162=) | |
2 | g.165344680T>C | CA429972126 | SCN2A | c.2688T>C (p.Ala896=) c.*1007T>C (n.*1007T>C) c.*675T>C (n.*675T>C) c.*3211T>C (n.*3211T>C) c.*630T>C (n.*630T>C) c.2292T>C (p.Ala764=) c.126T>C (p.Ala42=) c.539T>C n.2831T>C c.2658T>C (p.Ala886=) c.1935T>C (p.Ala645=) c.486T>C (p.Ala162=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.165344680T>G | CA429972125 | SCN2A | c.2688T>G (p.Ala896=) c.*1007T>G (n.*1007T>G) c.*675T>G (n.*675T>G) c.*3211T>G (n.*3211T>G) c.*630T>G (n.*630T>G) c.2292T>G (p.Ala764=) c.126T>G (p.Ala42=) c.539T>G n.2831T>G c.2658T>G (p.Ala886=) c.1935T>G (p.Ala645=) c.486T>G (p.Ala162=) | |
2 | g.165344680T= | CA1304545490 | SCN2A | c.2688T= (p.Ala896=) c.*1007T= (n.*1007T=) c.*675T= (n.*675T=) c.*3211T= (n.*3211T=) c.*630T= (n.*630T=) c.2292T= (p.Ala764=) c.126T= (p.Ala42=) c.539T= n.2831T= c.2658T= (p.Ala886=) c.1935T= (p.Ala645=) c.486T= (p.Ala162=) | |
2 | g.165344681G>A | CA349014448 | SCN2A | c.2689G>A (p.Val897Met) c.*1008G>A (n.*1008G>A) c.*676G>A (n.*676G>A) c.*3212G>A (n.*3212G>A) c.*631G>A (n.*631G>A) c.2293G>A (p.Val765Met) c.127G>A (p.Val43Met) c.540G>A n.2832G>A c.2659G>A (p.Val887Met) c.1936G>A (p.Val646Met) c.487G>A (p.Val163Met) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.165344681G>C | CA349014450 | SCN2A | c.2689G>C (p.Val897Leu) c.*1008G>C (n.*1008G>C) c.*676G>C (n.*676G>C) c.*3212G>C (n.*3212G>C) c.*631G>C (n.*631G>C) c.2293G>C (p.Val765Leu) c.127G>C (p.Val43Leu) c.540G>C n.2832G>C c.2659G>C (p.Val887Leu) c.1936G>C (p.Val646Leu) c.487G>C (p.Val163Leu) | |
2 | g.165344681G= | CA1304545491 | SCN2A | c.2689G= (p.Val897=) c.*1008G= (n.*1008G=) c.*676G= (n.*676G=) c.*3212G= (n.*3212G=) c.*631G= (n.*631G=) c.2293G= (p.Val765=) c.127G= (p.Val43=) c.540G= n.2832G= c.2659G= (p.Val887=) c.1936G= (p.Val646=) c.487G= (p.Val163=) | |
2 | g.165344681G>T | CA349014453 | SCN2A | c.2689G>T (p.Val897Leu) c.*1008G>T (n.*1008G>T) c.*676G>T (n.*676G>T) c.*3212G>T (n.*3212G>T) c.*631G>T (n.*631G>T) c.2293G>T (p.Val765Leu) c.127G>T (p.Val43Leu) c.540G>T n.2832G>T c.2659G>T (p.Val887Leu) c.1936G>T (p.Val646Leu) c.487G>T (p.Val163Leu) | |
2 | g.165344682T>A | CA349014455 | SCN2A | c.2690T>A (p.Val897Glu) c.*1009T>A (n.*1009T>A) c.*677T>A (n.*677T>A) c.*3213T>A (n.*3213T>A) c.*632T>A (n.*632T>A) c.2294T>A (p.Val765Glu) c.128T>A (p.Val43Glu) c.541T>A n.2833T>A c.2660T>A (p.Val887Glu) c.1937T>A (p.Val646Glu) c.488T>A (p.Val163Glu) | |
2 | g.165344682T>C | CA349014456 | SCN2A | c.2690T>C (p.Val897Ala) c.*1009T>C (n.*1009T>C) c.*677T>C (n.*677T>C) c.*3213T>C (n.*3213T>C) c.*632T>C (n.*632T>C) c.2294T>C (p.Val765Ala) c.128T>C (p.Val43Ala) c.541T>C n.2833T>C c.2660T>C (p.Val887Ala) c.1937T>C (p.Val646Ala) c.488T>C (p.Val163Ala) | |
2 | g.165344682T>G | CA349014457 | SCN2A | c.2690T>G (p.Val897Gly) c.*1009T>G (n.*1009T>G) c.*677T>G (n.*677T>G) c.*3213T>G (n.*3213T>G) c.*632T>G (n.*632T>G) c.2294T>G (p.Val765Gly) c.128T>G (p.Val43Gly) c.541T>G n.2833T>G c.2660T>G (p.Val887Gly) c.1937T>G (p.Val646Gly) c.488T>G (p.Val163Gly) | |
2 | g.165344683G>A | CA429972134 | SCN2A | c.2691G>A (p.Val897=) c.*1010G>A (n.*1010G>A) c.*678G>A (n.*678G>A) c.*3214G>A (n.*3214G>A) c.*633G>A (n.*633G>A) c.2295G>A (p.Val765=) c.129G>A (p.Val43=) c.542G>A n.2834G>A c.2661G>A (p.Val887=) c.1938G>A (p.Val646=) c.489G>A (p.Val163=) | |
2 | g.165344683G>C | CA429972136 | SCN2A | c.2691G>C (p.Val897=) c.*1010G>C (n.*1010G>C) c.*678G>C (n.*678G>C) c.*3214G>C (n.*3214G>C) c.*633G>C (n.*633G>C) c.2295G>C (p.Val765=) c.129G>C (p.Val43=) c.542G>C n.2834G>C c.2661G>C (p.Val887=) c.1938G>C (p.Val646=) c.489G>C (p.Val163=) | |
2 | g.165344683G>T | CA429972138 | SCN2A | c.2691G>T (p.Val897=) c.*1010G>T (n.*1010G>T) c.*678G>T (n.*678G>T) c.*3214G>T (n.*3214G>T) c.*633G>T (n.*633G>T) c.2295G>T (p.Val765=) c.129G>T (p.Val43=) c.542G>T n.2834G>T c.2661G>T (p.Val887=) c.1938G>T (p.Val646=) c.489G>T (p.Val163=) | |
2 | g.165344684G>A | CA349014458 | SCN2A | c.2692G>A (p.Val898Ile) c.*1011G>A (n.*1011G>A) c.*679G>A (n.*679G>A) c.*3215G>A (n.*3215G>A) c.*634G>A (n.*634G>A) c.2296G>A (p.Val766Ile) c.130G>A (p.Val44Ile) c.543G>A n.2835G>A c.2662G>A (p.Val888Ile) c.1939G>A (p.Val647Ile) c.490G>A (p.Val164Ile) | |
2 | g.165344684G>C | CA349014459 | SCN2A | c.2692G>C (p.Val898Leu) c.*1011G>C (n.*1011G>C) c.*679G>C (n.*679G>C) c.*3215G>C (n.*3215G>C) c.*634G>C (n.*634G>C) c.2296G>C (p.Val766Leu) c.130G>C (p.Val44Leu) c.543G>C n.2835G>C c.2662G>C (p.Val888Leu) c.1939G>C (p.Val647Leu) c.490G>C (p.Val164Leu) | |
2 | g.165344684G>T | CA349014463 | SCN2A | c.2692G>T (p.Val898Phe) c.*1011G>T (n.*1011G>T) c.*679G>T (n.*679G>T) c.*3215G>T (n.*3215G>T) c.*634G>T (n.*634G>T) c.2296G>T (p.Val766Phe) c.130G>T (p.Val44Phe) c.543G>T n.2835G>T c.2662G>T (p.Val888Phe) c.1939G>T (p.Val647Phe) c.490G>T (p.Val164Phe) | |
2 | g.165344685T>A | CA349014484 | SCN2A | c.2693T>A (p.Val898Asp) c.*1012T>A (n.*1012T>A) c.*680T>A (n.*680T>A) c.*3216T>A (n.*3216T>A) c.*635T>A (n.*635T>A) c.2297T>A (p.Val766Asp) c.131T>A (p.Val44Asp) c.544T>A n.2836T>A c.2663T>A (p.Val888Asp) c.1940T>A (p.Val647Asp) c.491T>A (p.Val164Asp) | |
2 | g.165344685T>C | CA349014480 | SCN2A | c.2693T>C (p.Val898Ala) c.*1012T>C (n.*1012T>C) c.*680T>C (n.*680T>C) c.*3216T>C (n.*3216T>C) c.*635T>C (n.*635T>C) c.2297T>C (p.Val766Ala) c.131T>C (p.Val44Ala) c.544T>C n.2836T>C c.2663T>C (p.Val888Ala) c.1940T>C (p.Val647Ala) c.491T>C (p.Val164Ala) | |
2 | g.165344685T>G | CA349014477 | SCN2A | c.2693T>G (p.Val898Gly) c.*1012T>G (n.*1012T>G) c.*680T>G (n.*680T>G) c.*3216T>G (n.*3216T>G) c.*635T>G (n.*635T>G) c.2297T>G (p.Val766Gly) c.131T>G (p.Val44Gly) c.544T>G n.2836T>G c.2663T>G (p.Val888Gly) c.1940T>G (p.Val647Gly) c.491T>G (p.Val164Gly) | |
2 | g.165344686C>A | CA429972146 | SCN2A | c.2694C>A (p.Val898=) c.*1013C>A (n.*1013C>A) c.*681C>A (n.*681C>A) c.*3217C>A (n.*3217C>A) c.*636C>A (n.*636C>A) c.2298C>A (p.Val766=) c.132C>A (p.Val44=) c.545C>A n.2837C>A c.2664C>A (p.Val888=) c.1941C>A (p.Val647=) c.492C>A (p.Val164=) | |
2 | g.165344686C= | CA1304545492 | SCN2A | c.2694C= (p.Val898=) c.*1013C= (n.*1013C=) c.*681C= (n.*681C=) c.*3217C= (n.*3217C=) c.*636C= (n.*636C=) c.2298C= (p.Val766=) c.132C= (p.Val44=) c.545C= n.2837C= c.2664C= (p.Val888=) c.1941C= (p.Val647=) c.492C= (p.Val164=) | |
2 | g.165344686C>G | CA429972147 | SCN2A | c.2694C>G (p.Val898=) c.*1013C>G (n.*1013C>G) c.*681C>G (n.*681C>G) c.*3217C>G (n.*3217C>G) c.*636C>G (n.*636C>G) c.2298C>G (p.Val766=) c.132C>G (p.Val44=) c.545C>G n.2837C>G c.2664C>G (p.Val888=) c.1941C>G (p.Val647=) c.492C>G (p.Val164=) | ClinVar dbSNP |
2 | g.165344686C>T | CA59719990 | SCN2A | c.2694C>T (p.Val898=) c.*1013C>T (n.*1013C>T) c.*681C>T (n.*681C>T) c.*3217C>T (n.*3217C>T) c.*636C>T (n.*636C>T) c.2298C>T (p.Val766=) c.132C>T (p.Val44=) c.545C>T n.2837C>T c.2664C>T (p.Val888=) c.1941C>T (p.Val647=) c.492C>T (p.Val164=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.165344687G>A | CA317892 | SCN2A | c.2695G>A (p.Gly899Ser) c.*1014G>A (n.*1014G>A) c.*682G>A (n.*682G>A) c.*3218G>A (n.*3218G>A) c.*637G>A (n.*637G>A) c.2299G>A (p.Gly767Ser) c.133G>A (p.Gly45Ser) c.546G>A n.2838G>A c.2665G>A (p.Gly889Ser) c.1942G>A (p.Gly648Ser) c.493G>A (p.Gly165Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.165344687G>C | CA349014495 | SCN2A | c.2695G>C (p.Gly899Arg) c.*1014G>C (n.*1014G>C) c.*682G>C (n.*682G>C) c.*3218G>C (n.*3218G>C) c.*637G>C (n.*637G>C) c.2299G>C (p.Gly767Arg) c.133G>C (p.Gly45Arg) c.546G>C n.2838G>C c.2665G>C (p.Gly889Arg) c.1942G>C (p.Gly648Arg) c.493G>C (p.Gly165Arg) | |
2 | g.165344687G= | CA1304545493 | SCN2A | c.2695G= (p.Gly899=) c.*1014G= (n.*1014G=) c.*682G= (n.*682G=) c.*3218G= (n.*3218G=) c.*637G= (n.*637G=) c.2299G= (p.Gly767=) c.133G= (p.Gly45=) c.546G= n.2838G= c.2665G= (p.Gly889=) c.1942G= (p.Gly648=) c.493G= (p.Gly165=) | |
2 | g.165344687G>T | CA349014499 | SCN2A | c.2695G>T (p.Gly899Cys) c.*1014G>T (n.*1014G>T) c.*682G>T (n.*682G>T) c.*3218G>T (n.*3218G>T) c.*637G>T (n.*637G>T) c.2299G>T (p.Gly767Cys) c.133G>T (p.Gly45Cys) c.546G>T n.2838G>T c.2665G>T (p.Gly889Cys) c.1942G>T (p.Gly648Cys) c.493G>T (p.Gly165Cys) | |
2 | g.165344688G>A | CA317895 | SCN2A | c.2696G>A (p.Gly899Asp) c.*1015G>A (n.*1015G>A) c.*683G>A (n.*683G>A) c.*3219G>A (n.*3219G>A) c.*638G>A (n.*638G>A) c.2300G>A (p.Gly767Asp) c.134G>A (p.Gly45Asp) c.547G>A n.2839G>A c.2666G>A (p.Gly889Asp) c.1943G>A (p.Gly648Asp) c.494G>A (p.Gly165Asp) | ClinVar dbSNP |
2 | g.165344688G>C | CA349014508 | SCN2A | c.2696G>C (p.Gly899Ala) c.*1015G>C (n.*1015G>C) c.*683G>C (n.*683G>C) c.*3219G>C (n.*3219G>C) c.*638G>C (n.*638G>C) c.2300G>C (p.Gly767Ala) c.134G>C (p.Gly45Ala) c.547G>C n.2839G>C c.2666G>C (p.Gly889Ala) c.1943G>C (p.Gly648Ala) c.494G>C (p.Gly165Ala) | |
2 | g.165344688G= | CA1304545494 | SCN2A | c.2696G= (p.Gly899=) c.*1015G= (n.*1015G=) c.*683G= (n.*683G=) c.*3219G= (n.*3219G=) c.*638G= (n.*638G=) c.2300G= (p.Gly767=) c.134G= (p.Gly45=) c.547G= n.2839G= c.2666G= (p.Gly889=) c.1943G= (p.Gly648=) c.494G= (p.Gly165=) | |
2 | g.165344688G>T | CA349014512 | SCN2A | c.2696G>T (p.Gly899Val) c.*1015G>T (n.*1015G>T) c.*683G>T (n.*683G>T) c.*3219G>T (n.*3219G>T) c.*638G>T (n.*638G>T) c.2300G>T (p.Gly767Val) c.134G>T (p.Gly45Val) c.547G>T n.2839G>T c.2666G>T (p.Gly889Val) c.1943G>T (p.Gly648Val) c.494G>T (p.Gly165Val) | |
2 | g.165344689C>A | CA429972156 | SCN2A | c.2697C>A (p.Gly899=) c.*1016C>A (n.*1016C>A) c.*684C>A (n.*684C>A) c.*3220C>A (n.*3220C>A) c.*639C>A (n.*639C>A) c.2301C>A (p.Gly767=) c.135C>A (p.Gly45=) c.548C>A n.2840C>A c.2667C>A (p.Gly889=) c.1944C>A (p.Gly648=) c.495C>A (p.Gly165=) | |
2 | g.165344689C>G | CA429972155 | SCN2A | c.2697C>G (p.Gly899=) c.*1016C>G (n.*1016C>G) c.*684C>G (n.*684C>G) c.*3220C>G (n.*3220C>G) c.*639C>G (n.*639C>G) c.2301C>G (p.Gly767=) c.135C>G (p.Gly45=) c.548C>G n.2840C>G c.2667C>G (p.Gly889=) c.1944C>G (p.Gly648=) c.495C>G (p.Gly165=) | |
2 | g.165344689C>T | CA429972154 | SCN2A | c.2697C>T (p.Gly899=) c.*1016C>T (n.*1016C>T) c.*684C>T (n.*684C>T) c.*3220C>T (n.*3220C>T) c.*639C>T (n.*639C>T) c.2301C>T (p.Gly767=) c.135C>T (p.Gly45=) c.548C>T n.2840C>T c.2667C>T (p.Gly889=) c.1944C>T (p.Gly648=) c.495C>T (p.Gly165=) | |
2 | g.165344690A= | CA1304545495 | SCN2A | c.2698A= (p.Met900=) c.*1017A= (n.*1017A=) c.*685A= (n.*685A=) c.*3221A= (n.*3221A=) c.*640A= (n.*640A=) c.2302A= (p.Met768=) c.136A= (p.Met46=) c.549A= n.2841A= c.2668A= (p.Met890=) c.1945A= (p.Met649=) c.496A= (p.Met166=) | |
2 | g.165344690A>C | CA349014517 | SCN2A | c.2698A>C (p.Met900Leu) c.*1017A>C (n.*1017A>C) c.*685A>C (n.*685A>C) c.*3221A>C (n.*3221A>C) c.*640A>C (n.*640A>C) c.2302A>C (p.Met768Leu) c.136A>C (p.Met46Leu) c.549A>C n.2841A>C c.2668A>C (p.Met890Leu) c.1945A>C (p.Met649Leu) c.496A>C (p.Met166Leu) | |
2 | g.165344690A>G | CA59720001 | SCN2A | c.2698A>G (p.Met900Val) c.*1017A>G (n.*1017A>G) c.*685A>G (n.*685A>G) c.*3221A>G (n.*3221A>G) c.*640A>G (n.*640A>G) c.2302A>G (p.Met768Val) c.136A>G (p.Met46Val) c.549A>G n.2841A>G c.2668A>G (p.Met890Val) c.1945A>G (p.Met649Val) c.496A>G (p.Met166Val) | dbSNP |
2 | g.165344690A>T | CA349014526 | SCN2A | c.2698A>T (p.Met900Leu) c.*1017A>T (n.*1017A>T) c.*685A>T (n.*685A>T) c.*3221A>T (n.*3221A>T) c.*640A>T (n.*640A>T) c.2302A>T (p.Met768Leu) c.136A>T (p.Met46Leu) c.549A>T n.2841A>T c.2668A>T (p.Met890Leu) c.1945A>T (p.Met649Leu) c.496A>T (p.Met166Leu) | |
2 | g.165344691T>A | CA349014529 | SCN2A | c.2699T>A (p.Met900Lys) c.*1018T>A (n.*1018T>A) c.*686T>A (n.*686T>A) c.*3222T>A (n.*3222T>A) c.*641T>A (n.*641T>A) c.2303T>A (p.Met768Lys) c.137T>A (p.Met46Lys) c.550T>A n.2842T>A c.2669T>A (p.Met890Lys) c.1946T>A (p.Met649Lys) c.497T>A (p.Met166Lys) | |
2 | g.165344691T>C | CA349014537 | SCN2A | c.2699T>C (p.Met900Thr) c.*1018T>C (n.*1018T>C) c.*686T>C (n.*686T>C) c.*3222T>C (n.*3222T>C) c.*641T>C (n.*641T>C) c.2303T>C (p.Met768Thr) c.137T>C (p.Met46Thr) c.550T>C n.2842T>C c.2669T>C (p.Met890Thr) c.1946T>C (p.Met649Thr) c.497T>C (p.Met166Thr) | |
2 | g.165344691T>G | CA349014540 | SCN2A | c.2699T>G (p.Met900Arg) c.*1018T>G (n.*1018T>G) c.*686T>G (n.*686T>G) c.*3222T>G (n.*3222T>G) c.*641T>G (n.*641T>G) c.2303T>G (p.Met768Arg) c.137T>G (p.Met46Arg) c.550T>G n.2842T>G c.2669T>G (p.Met890Arg) c.1946T>G (p.Met649Arg) c.497T>G (p.Met166Arg) | |
2 | g.165344692G>A | CA349014563 | SCN2A | c.2700G>A (p.Met900Ile) c.*1019G>A (n.*1019G>A) c.*687G>A (n.*687G>A) c.*3223G>A (n.*3223G>A) c.*642G>A (n.*642G>A) c.2304G>A (p.Met768Ile) c.138G>A (p.Met46Ile) c.551G>A n.2843G>A c.2670G>A (p.Met890Ile) c.1947G>A (p.Met649Ile) c.498G>A (p.Met166Ile) | |
2 | g.165344692G>C | CA349014544 | SCN2A | c.2700G>C (p.Met900Ile) c.*1019G>C (n.*1019G>C) c.*687G>C (n.*687G>C) c.*3223G>C (n.*3223G>C) c.*642G>C (n.*642G>C) c.2304G>C (p.Met768Ile) c.138G>C (p.Met46Ile) c.551G>C n.2843G>C c.2670G>C (p.Met890Ile) c.1947G>C (p.Met649Ile) c.498G>C (p.Met166Ile) | |
2 | g.165344692G>T | CA349014560 | SCN2A | c.2700G>T (p.Met900Ile) c.*1019G>T (n.*1019G>T) c.*687G>T (n.*687G>T) c.*3223G>T (n.*3223G>T) c.*642G>T (n.*642G>T) c.2304G>T (p.Met768Ile) c.138G>T (p.Met46Ile) c.551G>T n.2843G>T c.2670G>T (p.Met890Ile) c.1947G>T (p.Met649Ile) c.498G>T (p.Met166Ile) | |
2 | g.165344693C>A | CA349014568 | SCN2A | c.2701C>A (p.Gln901Lys) c.*1020C>A (n.*1020C>A) c.*688C>A (n.*688C>A) c.*3224C>A (n.*3224C>A) c.*643C>A (n.*643C>A) c.2305C>A (p.Gln769Lys) c.139C>A (p.Gln47Lys) c.552C>A n.2844C>A c.2671C>A (p.Gln891Lys) c.1948C>A (p.Gln650Lys) c.499C>A (p.Gln167Lys) | |
2 | g.165344693C= | CA1304545496 | SCN2A | c.2701C= (p.Gln901=) c.*1020C= (n.*1020C=) c.*688C= (n.*688C=) c.*3224C= (n.*3224C=) c.*643C= (n.*643C=) c.2305C= (p.Gln769=) c.139C= (p.Gln47=) c.552C= n.2844C= c.2671C= (p.Gln891=) c.1948C= (p.Gln650=) c.499C= (p.Gln167=) | |
2 | g.165344693C>G | CA349014581 | SCN2A | c.2701C>G (p.Gln901Glu) c.*1020C>G (n.*1020C>G) c.*688C>G (n.*688C>G) c.*3224C>G (n.*3224C>G) c.*643C>G (n.*643C>G) c.2305C>G (p.Gln769Glu) c.139C>G (p.Gln47Glu) c.552C>G n.2844C>G c.2671C>G (p.Gln891Glu) c.1948C>G (p.Gln650Glu) c.499C>G (p.Gln167Glu) | ClinVar dbSNP |
2 | g.165344693C>T | CA349014572 | SCN2A | c.2701C>T (p.Gln901Ter) c.*1020C>T (n.*1020C>T) c.*688C>T (n.*688C>T) c.*3224C>T (n.*3224C>T) c.*643C>T (n.*643C>T) c.2305C>T (p.Gln769Ter) c.139C>T (p.Gln47Ter) c.552C>T n.2844C>T c.2671C>T (p.Gln891Ter) c.1948C>T (p.Gln650Ter) c.499C>T (p.Gln167Ter) | |
2 | g.165344694A>C | CA349014585 | SCN2A | c.2702A>C (p.Gln901Pro) c.*1021A>C (n.*1021A>C) c.*689A>C (n.*689A>C) c.*3225A>C (n.*3225A>C) c.*644A>C (n.*644A>C) c.2306A>C (p.Gln769Pro) c.140A>C (p.Gln47Pro) c.553A>C n.2845A>C c.2672A>C (p.Gln891Pro) c.1949A>C (p.Gln650Pro) c.500A>C (p.Gln167Pro) | |
2 | g.165344694A>G | CA349014588 | SCN2A | c.2702A>G (p.Gln901Arg) c.*1021A>G (n.*1021A>G) c.*689A>G (n.*689A>G) c.*3225A>G (n.*3225A>G) c.*644A>G (n.*644A>G) c.2306A>G (p.Gln769Arg) c.140A>G (p.Gln47Arg) c.553A>G n.2845A>G c.2672A>G (p.Gln891Arg) c.1949A>G (p.Gln650Arg) c.500A>G (p.Gln167Arg) | |
2 | g.165344694A>T | CA349014592 | SCN2A | c.2702A>T (p.Gln901Leu) c.*1021A>T (n.*1021A>T) c.*689A>T (n.*689A>T) c.*3225A>T (n.*3225A>T) c.*644A>T (n.*644A>T) c.2306A>T (p.Gln769Leu) c.140A>T (p.Gln47Leu) c.553A>T n.2845A>T c.2672A>T (p.Gln891Leu) c.1949A>T (p.Gln650Leu) c.500A>T (p.Gln167Leu) | |
2 | g.165344695G>A | CA429972176 | SCN2A | c.2703G>A (p.Gln901=) c.*1022G>A (n.*1022G>A) c.*690G>A (n.*690G>A) c.*3226G>A (n.*3226G>A) c.*645G>A (n.*645G>A) c.2307G>A (p.Gln769=) c.141G>A (p.Gln47=) c.554G>A n.2846G>A c.2673G>A (p.Gln891=) c.1950G>A (p.Gln650=) c.501G>A (p.Gln167=) | |
2 | g.165344695G>C | CA349014595 | SCN2A | c.2703G>C (p.Gln901His) c.*1022G>C (n.*1022G>C) c.*690G>C (n.*690G>C) c.*3226G>C (n.*3226G>C) c.*645G>C (n.*645G>C) c.2307G>C (p.Gln769His) c.141G>C (p.Gln47His) c.554G>C n.2846G>C c.2673G>C (p.Gln891His) c.1950G>C (p.Gln650His) c.501G>C (p.Gln167His) | ClinVar |
2 | g.165344695G>T | CA349014597 | SCN2A | c.2703G>T (p.Gln901His) c.*1022G>T (n.*1022G>T) c.*690G>T (n.*690G>T) c.*3226G>T (n.*3226G>T) c.*645G>T (n.*645G>T) c.2307G>T (p.Gln769His) c.141G>T (p.Gln47His) c.554G>T n.2846G>T c.2673G>T (p.Gln891His) c.1950G>T (p.Gln650His) c.501G>T (p.Gln167His) | |
2 | g.165344696C>A | CA349014625 | SCN2A | c.2704C>A (p.Leu902Ile) c.*1023C>A (n.*1023C>A) c.*691C>A (n.*691C>A) c.*3227C>A (n.*3227C>A) c.*646C>A (n.*646C>A) c.2308C>A (p.Leu770Ile) c.142C>A (p.Leu48Ile) c.555C>A n.2847C>A c.2674C>A (p.Leu892Ile) c.1951C>A (p.Leu651Ile) c.502C>A (p.Leu168Ile) | |
2 | g.165344696C>G | CA349014629 | SCN2A | c.2704C>G (p.Leu902Val) c.*1023C>G (n.*1023C>G) c.*691C>G (n.*691C>G) c.*3227C>G (n.*3227C>G) c.*646C>G (n.*646C>G) c.2308C>G (p.Leu770Val) c.142C>G (p.Leu48Val) c.555C>G n.2847C>G c.2674C>G (p.Leu892Val) c.1951C>G (p.Leu651Val) c.502C>G (p.Leu168Val) | |
2 | g.165344696C>T | CA349014633 | SCN2A | c.2704C>T (p.Leu902Phe) c.*1023C>T (n.*1023C>T) c.*691C>T (n.*691C>T) c.*3227C>T (n.*3227C>T) c.*646C>T (n.*646C>T) c.2308C>T (p.Leu770Phe) c.142C>T (p.Leu48Phe) c.555C>T n.2847C>T c.2674C>T (p.Leu892Phe) c.1951C>T (p.Leu651Phe) c.502C>T (p.Leu168Phe) | |
2 | g.165344697T>A | CA349014635 | SCN2A | c.2705T>A (p.Leu902His) c.*1024T>A (n.*1024T>A) c.*692T>A (n.*692T>A) c.*3228T>A (n.*3228T>A) c.*647T>A (n.*647T>A) c.2309T>A (p.Leu770His) c.143T>A (p.Leu48His) c.556T>A n.2848T>A c.2675T>A (p.Leu892His) c.1952T>A (p.Leu651His) c.503T>A (p.Leu168His) | |
2 | g.165344697T>C | CA349014637 | SCN2A | c.2705T>C (p.Leu902Pro) c.*1024T>C (n.*1024T>C) c.*692T>C (n.*692T>C) c.*3228T>C (n.*3228T>C) c.*647T>C (n.*647T>C) c.2309T>C (p.Leu770Pro) c.143T>C (p.Leu48Pro) c.556T>C n.2848T>C c.2675T>C (p.Leu892Pro) c.1952T>C (p.Leu651Pro) c.503T>C (p.Leu168Pro) | |
2 | g.165344697T>G | CA349014636 | SCN2A | c.2705T>G (p.Leu902Arg) c.*1024T>G (n.*1024T>G) c.*692T>G (n.*692T>G) c.*3228T>G (n.*3228T>G) c.*647T>G (n.*647T>G) c.2309T>G (p.Leu770Arg) c.143T>G (p.Leu48Arg) c.556T>G n.2848T>G c.2675T>G (p.Leu892Arg) c.1952T>G (p.Leu651Arg) c.503T>G (p.Leu168Arg) | |
2 | g.165344698C>A | CA429972188 | SCN2A | c.2706C>A (p.Leu902=) c.*1025C>A (n.*1025C>A) c.*693C>A (n.*693C>A) c.*3229C>A (n.*3229C>A) c.*648C>A (n.*648C>A) c.2310C>A (p.Leu770=) c.144C>A (p.Leu48=) c.557C>A n.2849C>A c.2676C>A (p.Leu892=) c.1953C>A (p.Leu651=) c.504C>A (p.Leu168=) | |
2 | g.165344698C= | CA1304545497 | SCN2A | c.2706C= (p.Leu902=) c.*1025C= (n.*1025C=) c.*693C= (n.*693C=) c.*3229C= (n.*3229C=) c.*648C= (n.*648C=) c.2310C= (p.Leu770=) c.144C= (p.Leu48=) c.557C= n.2849C= c.2676C= (p.Leu892=) c.1953C= (p.Leu651=) c.504C= (p.Leu168=) | |
2 | g.165344698C>G | CA1940014 | SCN2A | c.2706C>G (p.Leu902=) c.*1025C>G (n.*1025C>G) c.*693C>G (n.*693C>G) c.*3229C>G (n.*3229C>G) c.*648C>G (n.*648C>G) c.2310C>G (p.Leu770=) c.144C>G (p.Leu48=) c.557C>G n.2849C>G c.2676C>G (p.Leu892=) c.1953C>G (p.Leu651=) c.504C>G (p.Leu168=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165344698C>T | CA429972193 | SCN2A | c.2706C>T (p.Leu902=) c.*1025C>T (n.*1025C>T) c.*693C>T (n.*693C>T) c.*3229C>T (n.*3229C>T) c.*648C>T (n.*648C>T) c.2310C>T (p.Leu770=) c.144C>T (p.Leu48=) c.557C>T n.2849C>T c.2676C>T (p.Leu892=) c.1953C>T (p.Leu651=) c.504C>T (p.Leu168=) | |
2 | g.165344699T>A | CA349014644 | SCN2A | c.2707T>A (p.Phe903Ile) c.*1026T>A (n.*1026T>A) c.*694T>A (n.*694T>A) c.*3230T>A (n.*3230T>A) c.*649T>A (n.*649T>A) c.2311T>A (p.Phe771Ile) c.145T>A (p.Phe49Ile) c.558T>A n.2850T>A c.2677T>A (p.Phe893Ile) c.1954T>A (p.Phe652Ile) c.505T>A (p.Phe169Ile) | |
2 | g.165344699T>C | CA349014645 | SCN2A | c.2707T>C (p.Phe903Leu) c.*1026T>C (n.*1026T>C) c.*694T>C (n.*694T>C) c.*3230T>C (n.*3230T>C) c.*649T>C (n.*649T>C) c.2311T>C (p.Phe771Leu) c.145T>C (p.Phe49Leu) c.558T>C n.2850T>C c.2677T>C (p.Phe893Leu) c.1954T>C (p.Phe652Leu) c.505T>C (p.Phe169Leu) | |
2 | g.165344699T>G | CA349014650 | SCN2A | c.2707T>G (p.Phe903Val) c.*1026T>G (n.*1026T>G) c.*694T>G (n.*694T>G) c.*3230T>G (n.*3230T>G) c.*649T>G (n.*649T>G) c.2311T>G (p.Phe771Val) c.145T>G (p.Phe49Val) c.558T>G n.2850T>G c.2677T>G (p.Phe893Val) c.1954T>G (p.Phe652Val) c.505T>G (p.Phe169Val) | |
2 | g.165344700T>A | CA349014655 | SCN2A | c.2708T>A (p.Phe903Tyr) c.*1027T>A (n.*1027T>A) c.*695T>A (n.*695T>A) c.*3231T>A (n.*3231T>A) c.*650T>A (n.*650T>A) c.2312T>A (p.Phe771Tyr) c.146T>A (p.Phe49Tyr) c.559T>A n.2851T>A c.2678T>A (p.Phe893Tyr) c.1955T>A (p.Phe652Tyr) c.506T>A (p.Phe169Tyr) | |
2 | g.165344700T>C | CA349014663 | SCN2A | c.2708T>C (p.Phe903Ser) c.*1027T>C (n.*1027T>C) c.*695T>C (n.*695T>C) c.*3231T>C (n.*3231T>C) c.*650T>C (n.*650T>C) c.2312T>C (p.Phe771Ser) c.146T>C (p.Phe49Ser) c.559T>C n.2851T>C c.2678T>C (p.Phe893Ser) c.1955T>C (p.Phe652Ser) c.506T>C (p.Phe169Ser) | |
2 | g.165344700T>G | CA349014657 | SCN2A | c.2708T>G (p.Phe903Cys) c.*1027T>G (n.*1027T>G) c.*695T>G (n.*695T>G) c.*3231T>G (n.*3231T>G) c.*650T>G (n.*650T>G) c.2312T>G (p.Phe771Cys) c.146T>G (p.Phe49Cys) c.559T>G n.2851T>G c.2678T>G (p.Phe893Cys) c.1955T>G (p.Phe652Cys) c.506T>G (p.Phe169Cys) | |
2 | g.165344701T>A | CA349014667 | SCN2A | c.2709T>A (p.Phe903Leu) c.*1028T>A (n.*1028T>A) c.*696T>A (n.*696T>A) c.*3232T>A (n.*3232T>A) c.*651T>A (n.*651T>A) c.2313T>A (p.Phe771Leu) c.147T>A (p.Phe49Leu) c.560T>A n.2852T>A c.2679T>A (p.Phe893Leu) c.1956T>A (p.Phe652Leu) c.507T>A (p.Phe169Leu) | |
2 | g.165344701T>C | CA429972202 | SCN2A | c.2709T>C (p.Phe903=) c.*1028T>C (n.*1028T>C) c.*696T>C (n.*696T>C) c.*3232T>C (n.*3232T>C) c.*651T>C (n.*651T>C) c.2313T>C (p.Phe771=) c.147T>C (p.Phe49=) c.560T>C n.2852T>C c.2679T>C (p.Phe893=) c.1956T>C (p.Phe652=) c.507T>C (p.Phe169=) | gnomAD v4 |
2 | g.165344701T>G | CA349014671 | SCN2A | c.2709T>G (p.Phe903Leu) c.*1028T>G (n.*1028T>G) c.*696T>G (n.*696T>G) c.*3232T>G (n.*3232T>G) c.*651T>G (n.*651T>G) c.2313T>G (p.Phe771Leu) c.147T>G (p.Phe49Leu) c.560T>G n.2852T>G c.2679T>G (p.Phe893Leu) c.1956T>G (p.Phe652Leu) c.507T>G (p.Phe169Leu) | |
2 | g.165344702G>A | CA349014677 | SCN2A | c.2710G>A (p.Gly904Ser) c.*1029G>A (n.*1029G>A) c.*697G>A (n.*697G>A) c.*3233G>A (n.*3233G>A) c.*652G>A (n.*652G>A) c.2314G>A (p.Gly772Ser) c.148G>A (p.Gly50Ser) c.561G>A n.2853G>A c.2680G>A (p.Gly894Ser) c.1957G>A (p.Gly653Ser) c.508G>A (p.Gly170Ser) | |
2 | g.165344702G>C | CA349014682 | SCN2A | c.2710G>C (p.Gly904Arg) c.*1029G>C (n.*1029G>C) c.*697G>C (n.*697G>C) c.*3233G>C (n.*3233G>C) c.*652G>C (n.*652G>C) c.2314G>C (p.Gly772Arg) c.148G>C (p.Gly50Arg) c.561G>C n.2853G>C c.2680G>C (p.Gly894Arg) c.1957G>C (p.Gly653Arg) c.508G>C (p.Gly170Arg) | |
2 | g.165344702G>T | CA349014684 | SCN2A | c.2710G>T (p.Gly904Cys) c.*1029G>T (n.*1029G>T) c.*697G>T (n.*697G>T) c.*3233G>T (n.*3233G>T) c.*652G>T (n.*652G>T) c.2314G>T (p.Gly772Cys) c.148G>T (p.Gly50Cys) c.561G>T n.2853G>T c.2680G>T (p.Gly894Cys) c.1957G>T (p.Gly653Cys) c.508G>T (p.Gly170Cys) | |
2 | g.165344703del | CA2580064227 | SCN2A | c.2711del (p.Gly904ValfsTer30) c.*1030del (n.*1030del) c.*698del (n.*698del) c.*3234del (n.*3234del) c.*653del (n.*653del) c.2315del (p.Gly772ValfsTer30) c.149del (p.Gly50ValfsTer30) c.562del n.2854del c.2681del (p.Gly894ValfsTer30) c.1958del (p.Gly653ValfsTer30) c.509del (p.Gly170ValfsTer30) | ClinVar |
2 | g.165344703G>A | CA349014685 | SCN2A | c.2711G>A (p.Gly904Asp) c.*1030G>A (n.*1030G>A) c.*698G>A (n.*698G>A) c.*3234G>A (n.*3234G>A) c.*653G>A (n.*653G>A) c.2315G>A (p.Gly772Asp) c.149G>A (p.Gly50Asp) c.562G>A n.2854G>A c.2681G>A (p.Gly894Asp) c.1958G>A (p.Gly653Asp) c.509G>A (p.Gly170Asp) | |
2 | g.165344703G>C | CA349014686 | SCN2A | c.2711G>C (p.Gly904Ala) c.*1030G>C (n.*1030G>C) c.*698G>C (n.*698G>C) c.*3234G>C (n.*3234G>C) c.*653G>C (n.*653G>C) c.2315G>C (p.Gly772Ala) c.149G>C (p.Gly50Ala) c.562G>C n.2854G>C c.2681G>C (p.Gly894Ala) c.1958G>C (p.Gly653Ala) c.509G>C (p.Gly170Ala) | |
2 | g.165344703G>T | CA349014687 | SCN2A | c.2711G>T (p.Gly904Val) c.*1030G>T (n.*1030G>T) c.*698G>T (n.*698G>T) c.*3234G>T (n.*3234G>T) c.*653G>T (n.*653G>T) c.2315G>T (p.Gly772Val) c.149G>T (p.Gly50Val) c.562G>T n.2854G>T c.2681G>T (p.Gly894Val) c.1958G>T (p.Gly653Val) c.509G>T (p.Gly170Val) | |
2 | g.165344703_165344704insGAAA | CA2545684315 | SCN2A | c.2711_2712insGAAA (p.Ser906Ter) c.*1030_*1031insGAAA (n.*1030_*1031insGAAA) c.*698_*699insGAAA (n.*698_*699insGAAA) c.*3234_*3235insGAAA (n.*3234_*3235insGAAA) c.*653_*654insGAAA (n.*653_*654insGAAA) c.2315_2316insGAAA (p.Ser774Ter) c.149_150insGAAA (p.Ser52Ter) c.562_563insGAAA n.2854_2855insGAAA c.2681_2682insGAAA (p.Ser896Ter) c.1958_1959insGAAA (p.Ser655Ter) c.509_510insGAAA (p.Ser172Ter) | |
2 | g.165344704T>A | CA429972213 | SCN2A | c.2712T>A (p.Gly904=) c.*1031T>A (n.*1031T>A) c.*699T>A (n.*699T>A) c.*3235T>A (n.*3235T>A) c.*654T>A (n.*654T>A) c.2316T>A (p.Gly772=) c.150T>A (p.Gly50=) c.563T>A n.2855T>A c.2682T>A (p.Gly894=) c.1959T>A (p.Gly653=) c.510T>A (p.Gly170=) | |
2 | g.165344704T>C | CA429972214 | SCN2A | c.2712T>C (p.Gly904=) c.*1031T>C (n.*1031T>C) c.*699T>C (n.*699T>C) c.*3235T>C (n.*3235T>C) c.*654T>C (n.*654T>C) c.2316T>C (p.Gly772=) c.150T>C (p.Gly50=) c.563T>C n.2855T>C c.2682T>C (p.Gly894=) c.1959T>C (p.Gly653=) c.510T>C (p.Gly170=) | |
2 | g.165344704T>G | CA429972215 | SCN2A | c.2712T>G (p.Gly904=) c.*1031T>G (n.*1031T>G) c.*699T>G (n.*699T>G) c.*3235T>G (n.*3235T>G) c.*654T>G (n.*654T>G) c.2316T>G (p.Gly772=) c.150T>G (p.Gly50=) c.563T>G n.2855T>G c.2682T>G (p.Gly894=) c.1959T>G (p.Gly653=) c.510T>G (p.Gly170=) | |
2 | g.165344705A= | CA1304545498 | SCN2A | c.2713A= (p.Lys905=) c.*1032A= (n.*1032A=) c.*700A= (n.*700A=) c.*3236A= (n.*3236A=) c.*655A= (n.*655A=) c.2317A= (p.Lys773=) c.151A= (p.Lys51=) c.564A= n.2856A= c.2683A= (p.Lys895=) c.1960A= (p.Lys654=) c.511A= (p.Lys171=) | |
2 | g.165344705A>C | CA349014688 | SCN2A | c.2713A>C (p.Lys905Gln) c.*1032A>C (n.*1032A>C) c.*700A>C (n.*700A>C) c.*3236A>C (n.*3236A>C) c.*655A>C (n.*655A>C) c.2317A>C (p.Lys773Gln) c.151A>C (p.Lys51Gln) c.564A>C n.2856A>C c.2683A>C (p.Lys895Gln) c.1960A>C (p.Lys654Gln) c.511A>C (p.Lys171Gln) | |
2 | g.165344705A>G | CA10605291 | SCN2A | c.2713A>G (p.Lys905Glu) c.*1032A>G (n.*1032A>G) c.*700A>G (n.*700A>G) c.*3236A>G (n.*3236A>G) c.*655A>G (n.*655A>G) c.2317A>G (p.Lys773Glu) c.151A>G (p.Lys51Glu) c.564A>G n.2856A>G c.2683A>G (p.Lys895Glu) c.1960A>G (p.Lys654Glu) c.511A>G (p.Lys171Glu) | ClinVar dbSNP |
2 | g.165344705A>T | CA349014692 | SCN2A | c.2713A>T (p.Lys905Ter) c.*1032A>T (n.*1032A>T) c.*700A>T (n.*700A>T) c.*3236A>T (n.*3236A>T) c.*655A>T (n.*655A>T) c.2317A>T (p.Lys773Ter) c.151A>T (p.Lys51Ter) c.564A>T n.2856A>T c.2683A>T (p.Lys895Ter) c.1960A>T (p.Lys654Ter) c.511A>T (p.Lys171Ter) | dbSNP |
2 | g.165344706A>C | CA349014699 | SCN2A | c.2714A>C (p.Lys905Thr) c.*1033A>C (n.*1033A>C) c.*701A>C (n.*701A>C) c.*3237A>C (n.*3237A>C) c.*656A>C (n.*656A>C) c.2318A>C (p.Lys773Thr) c.152A>C (p.Lys51Thr) c.565A>C n.2857A>C c.2684A>C (p.Lys895Thr) c.1961A>C (p.Lys654Thr) c.512A>C (p.Lys171Thr) | |
2 | g.165344706A>G | CA349014708 | SCN2A | c.2714A>G (p.Lys905Arg) c.*1033A>G (n.*1033A>G) c.*701A>G (n.*701A>G) c.*3237A>G (n.*3237A>G) c.*656A>G (n.*656A>G) c.2318A>G (p.Lys773Arg) c.152A>G (p.Lys51Arg) c.565A>G n.2857A>G c.2684A>G (p.Lys895Arg) c.1961A>G (p.Lys654Arg) c.512A>G (p.Lys171Arg) | gnomAD v4 |
2 | g.165344706A>T | CA349014704 | SCN2A | c.2714A>T (p.Lys905Met) c.*1033A>T (n.*1033A>T) c.*701A>T (n.*701A>T) c.*3237A>T (n.*3237A>T) c.*656A>T (n.*656A>T) c.2318A>T (p.Lys773Met) c.152A>T (p.Lys51Met) c.565A>T n.2857A>T c.2684A>T (p.Lys895Met) c.1961A>T (p.Lys654Met) c.512A>T (p.Lys171Met) | |
2 | g.165344706_165344709del | CA2517731334 | SCN2A | c.2714_2717del (p.Lys905ThrfsTer28) c.*1033_*1036del (n.*1033_*1036del) c.*701_*704del (n.*701_*704del) c.*3237_*3240del (n.*3237_*3240del) c.*656_*659del (n.*656_*659del) c.2318_2321del (p.Lys773ThrfsTer28) c.152_155del (p.Lys51ThrfsTer28) c.565_568del n.2857_2860del c.2684_2687del (p.Lys895ThrfsTer28) c.1961_1964del (p.Lys654ThrfsTer28) c.512_515del (p.Lys171ThrfsTer28) | |
2 | g.165344707G>A | CA429972219 | SCN2A | c.2715G>A (p.Lys905=) c.*1034G>A (n.*1034G>A) c.*702G>A (n.*702G>A) c.*3238G>A (n.*3238G>A) c.*657G>A (n.*657G>A) c.2319G>A (p.Lys773=) c.153G>A (p.Lys51=) c.566G>A n.2858G>A c.2685G>A (p.Lys895=) c.1962G>A (p.Lys654=) c.513G>A (p.Lys171=) | gnomAD v4 |
2 | g.165344707G>C | CA317889 | SCN2A | c.2715G>C (p.Lys905Asn) c.*1034G>C (n.*1034G>C) c.*702G>C (n.*702G>C) c.*3238G>C (n.*3238G>C) c.*657G>C (n.*657G>C) c.2319G>C (p.Lys773Asn) c.153G>C (p.Lys51Asn) c.566G>C n.2858G>C c.2685G>C (p.Lys895Asn) c.1962G>C (p.Lys654Asn) c.513G>C (p.Lys171Asn) | ClinVar dbSNP |
2 | g.165344707G= | CA1304545499 | SCN2A | c.2715G= (p.Lys905=) c.*1034G= (n.*1034G=) c.*702G= (n.*702G=) c.*3238G= (n.*3238G=) c.*657G= (n.*657G=) c.2319G= (p.Lys773=) c.153G= (p.Lys51=) c.566G= n.2858G= c.2685G= (p.Lys895=) c.1962G= (p.Lys654=) c.513G= (p.Lys171=) | |
2 | g.165344707G>T | CA349014714 | SCN2A | c.2715G>T (p.Lys905Asn) c.*1034G>T (n.*1034G>T) c.*702G>T (n.*702G>T) c.*3238G>T (n.*3238G>T) c.*657G>T (n.*657G>T) c.2319G>T (p.Lys773Asn) c.153G>T (p.Lys51Asn) c.566G>T n.2858G>T c.2685G>T (p.Lys895Asn) c.1962G>T (p.Lys654Asn) c.513G>T (p.Lys171Asn) | ClinVar |
2 | g.165344708A>C | CA349014718 | SCN2A | c.2716A>C (p.Ser906Arg) c.*1035A>C (n.*1035A>C) c.*703A>C (n.*703A>C) c.*3239A>C (n.*3239A>C) c.*658A>C (n.*658A>C) c.2320A>C (p.Ser774Arg) c.154A>C (p.Ser52Arg) c.567A>C n.2859A>C c.2686A>C (p.Ser896Arg) c.1963A>C (p.Ser655Arg) c.514A>C (p.Ser172Arg) | |
2 | g.165344708A>G | CA349014720 | SCN2A | c.2716A>G (p.Ser906Gly) c.*1035A>G (n.*1035A>G) c.*703A>G (n.*703A>G) c.*3239A>G (n.*3239A>G) c.*658A>G (n.*658A>G) c.2320A>G (p.Ser774Gly) c.154A>G (p.Ser52Gly) c.567A>G n.2859A>G c.2686A>G (p.Ser896Gly) c.1963A>G (p.Ser655Gly) c.514A>G (p.Ser172Gly) | |
2 | g.165344708A>T | CA349014723 | SCN2A | c.2716A>T (p.Ser906Cys) c.*1035A>T (n.*1035A>T) c.*703A>T (n.*703A>T) c.*3239A>T (n.*3239A>T) c.*658A>T (n.*658A>T) c.2320A>T (p.Ser774Cys) c.154A>T (p.Ser52Cys) c.567A>T n.2859A>T c.2686A>T (p.Ser896Cys) c.1963A>T (p.Ser655Cys) c.514A>T (p.Ser172Cys) | |
2 | g.165344709G>A | CA349014726 | SCN2A | c.2717G>A (p.Ser906Asn) c.*1036G>A (n.*1036G>A) c.*704G>A (n.*704G>A) c.*3240G>A (n.*3240G>A) c.*659G>A (n.*659G>A) c.2321G>A (p.Ser774Asn) c.155G>A (p.Ser52Asn) c.568G>A n.2860G>A c.2687G>A (p.Ser896Asn) c.1964G>A (p.Ser655Asn) c.515G>A (p.Ser172Asn) | gnomAD v4 |
2 | g.165344709G>C | CA349014730 | SCN2A | c.2717G>C (p.Ser906Thr) c.*1036G>C (n.*1036G>C) c.*704G>C (n.*704G>C) c.*3240G>C (n.*3240G>C) c.*659G>C (n.*659G>C) c.2321G>C (p.Ser774Thr) c.155G>C (p.Ser52Thr) c.568G>C n.2860G>C c.2687G>C (p.Ser896Thr) c.1964G>C (p.Ser655Thr) c.515G>C (p.Ser172Thr) | |
2 | g.165344709G>T | CA349014732 | SCN2A | c.2717G>T (p.Ser906Ile) c.*1036G>T (n.*1036G>T) c.*704G>T (n.*704G>T) c.*3240G>T (n.*3240G>T) c.*659G>T (n.*659G>T) c.2321G>T (p.Ser774Ile) c.155G>T (p.Ser52Ile) c.568G>T n.2860G>T c.2687G>T (p.Ser896Ile) c.1964G>T (p.Ser655Ile) c.515G>T (p.Ser172Ile) | |
2 | g.165344710C>A | CA349014748 | SCN2A | c.2718C>A (p.Ser906Arg) c.*1037C>A (n.*1037C>A) c.*705C>A (n.*705C>A) c.*3241C>A (n.*3241C>A) c.*660C>A (n.*660C>A) c.2322C>A (p.Ser774Arg) c.156C>A (p.Ser52Arg) c.569C>A n.2861C>A c.2688C>A (p.Ser896Arg) c.1965C>A (p.Ser655Arg) c.516C>A (p.Ser172Arg) | |
2 | g.165344710C>G | CA349014766 | SCN2A | c.2718C>G (p.Ser906Arg) c.*1037C>G (n.*1037C>G) c.*705C>G (n.*705C>G) c.*3241C>G (n.*3241C>G) c.*660C>G (n.*660C>G) c.2322C>G (p.Ser774Arg) c.156C>G (p.Ser52Arg) c.569C>G n.2861C>G c.2688C>G (p.Ser896Arg) c.1965C>G (p.Ser655Arg) c.516C>G (p.Ser172Arg) | |
2 | g.165344710C>T | CA429972234 | SCN2A | c.2718C>T (p.Ser906=) c.*1037C>T (n.*1037C>T) c.*705C>T (n.*705C>T) c.*3241C>T (n.*3241C>T) c.*660C>T (n.*660C>T) c.2322C>T (p.Ser774=) c.156C>T (p.Ser52=) c.569C>T n.2861C>T c.2688C>T (p.Ser896=) c.1965C>T (p.Ser655=) c.516C>T (p.Ser172=) | COSMIC COSMIC |
2 | g.165344711T>A | CA349014773 | SCN2A | c.2719T>A (p.Tyr907Asn) c.*1038T>A (n.*1038T>A) c.*706T>A (n.*706T>A) c.*3242T>A (n.*3242T>A) c.*661T>A (n.*661T>A) c.2323T>A (p.Tyr775Asn) c.157T>A (p.Tyr53Asn) c.570T>A n.2862T>A c.2689T>A (p.Tyr897Asn) c.1966T>A (p.Tyr656Asn) c.517T>A (p.Tyr173Asn) | |
2 | g.165344711T>C | CA349014780 | SCN2A | c.2719T>C (p.Tyr907His) c.*1038T>C (n.*1038T>C) c.*706T>C (n.*706T>C) c.*3242T>C (n.*3242T>C) c.*661T>C (n.*661T>C) c.2323T>C (p.Tyr775His) c.157T>C (p.Tyr53His) c.570T>C n.2862T>C c.2689T>C (p.Tyr897His) c.1966T>C (p.Tyr656His) c.517T>C (p.Tyr173His) | |
2 | g.165344711T>G | CA349014785 | SCN2A | c.2719T>G (p.Tyr907Asp) c.*1038T>G (n.*1038T>G) c.*706T>G (n.*706T>G) c.*3242T>G (n.*3242T>G) c.*661T>G (n.*661T>G) c.2323T>G (p.Tyr775Asp) c.157T>G (p.Tyr53Asp) c.570T>G n.2862T>G c.2689T>G (p.Tyr897Asp) c.1966T>G (p.Tyr656Asp) c.517T>G (p.Tyr173Asp) | |
2 | g.165344712A>C | CA349014800 | SCN2A | c.2720A>C (p.Tyr907Ser) c.*1039A>C (n.*1039A>C) c.*707A>C (n.*707A>C) c.*3243A>C (n.*3243A>C) c.*662A>C (n.*662A>C) c.2324A>C (p.Tyr775Ser) c.158A>C (p.Tyr53Ser) c.571A>C n.2863A>C c.2690A>C (p.Tyr897Ser) c.1967A>C (p.Tyr656Ser) c.518A>C (p.Tyr173Ser) | |
2 | g.165344712A>G | CA349014806 | SCN2A | c.2720A>G (p.Tyr907Cys) c.*1039A>G (n.*1039A>G) c.*707A>G (n.*707A>G) c.*3243A>G (n.*3243A>G) c.*662A>G (n.*662A>G) c.2324A>G (p.Tyr775Cys) c.158A>G (p.Tyr53Cys) c.571A>G n.2863A>G c.2690A>G (p.Tyr897Cys) c.1967A>G (p.Tyr656Cys) c.518A>G (p.Tyr173Cys) | gnomAD v4 |
2 | g.165344712A>T | CA349014803 | SCN2A | c.2720A>T (p.Tyr907Phe) c.*1039A>T (n.*1039A>T) c.*707A>T (n.*707A>T) c.*3243A>T (n.*3243A>T) c.*662A>T (n.*662A>T) c.2324A>T (p.Tyr775Phe) c.158A>T (p.Tyr53Phe) c.571A>T n.2863A>T c.2690A>T (p.Tyr897Phe) c.1967A>T (p.Tyr656Phe) c.518A>T (p.Tyr173Phe) | |
2 | g.165344713C>A | CA349014809 | SCN2A | c.2721C>A (p.Tyr907Ter) c.*1040C>A (n.*1040C>A) c.*708C>A (n.*708C>A) c.*3244C>A (n.*3244C>A) c.*663C>A (n.*663C>A) c.2325C>A (p.Tyr775Ter) c.159C>A (p.Tyr53Ter) c.572C>A n.2864C>A c.2691C>A (p.Tyr897Ter) c.1968C>A (p.Tyr656Ter) c.519C>A (p.Tyr173Ter) | |
2 | g.165344713C>G | CA349014821 | SCN2A | c.2721C>G (p.Tyr907Ter) c.*1040C>G (n.*1040C>G) c.*708C>G (n.*708C>G) c.*3244C>G (n.*3244C>G) c.*663C>G (n.*663C>G) c.2325C>G (p.Tyr775Ter) c.159C>G (p.Tyr53Ter) c.572C>G n.2864C>G c.2691C>G (p.Tyr897Ter) c.1968C>G (p.Tyr656Ter) c.519C>G (p.Tyr173Ter) | |
2 | g.165344713C>T | CA429972241 | SCN2A | c.2721C>T (p.Tyr907=) c.*1040C>T (n.*1040C>T) c.*708C>T (n.*708C>T) c.*3244C>T (n.*3244C>T) c.*663C>T (n.*663C>T) c.2325C>T (p.Tyr775=) c.159C>T (p.Tyr53=) c.572C>T n.2864C>T c.2691C>T (p.Tyr897=) c.1968C>T (p.Tyr656=) c.519C>T (p.Tyr173=) | COSMIC COSMIC |
2 | g.165344714A= | CA1304545500 | SCN2A | c.2722A= (p.Lys908=) c.*1041A= (n.*1041A=) c.*709A= (n.*709A=) c.*3245A= (n.*3245A=) c.*664A= (n.*664A=) c.2326A= (p.Lys776=) c.160A= (p.Lys54=) c.573A= n.2865A= c.2692A= (p.Lys898=) c.1969A= (p.Lys657=) c.520A= (p.Lys174=) | |
2 | g.165344714A>C | CA349014825 | SCN2A | c.2722A>C (p.Lys908Gln) c.*1041A>C (n.*1041A>C) c.*709A>C (n.*709A>C) c.*3245A>C (n.*3245A>C) c.*664A>C (n.*664A>C) c.2326A>C (p.Lys776Gln) c.160A>C (p.Lys54Gln) c.573A>C n.2865A>C c.2692A>C (p.Lys898Gln) c.1969A>C (p.Lys657Gln) c.520A>C (p.Lys174Gln) | |
2 | g.165344714A>G | CA317898 | SCN2A | c.2722A>G (p.Lys908Glu) c.*1041A>G (n.*1041A>G) c.*709A>G (n.*709A>G) c.*3245A>G (n.*3245A>G) c.*664A>G (n.*664A>G) c.2326A>G (p.Lys776Glu) c.160A>G (p.Lys54Glu) c.573A>G n.2865A>G c.2692A>G (p.Lys898Glu) c.1969A>G (p.Lys657Glu) c.520A>G (p.Lys174Glu) | ClinVar dbSNP |
2 | g.165344714A>T | CA349014826 | SCN2A | c.2722A>T (p.Lys908Ter) c.*1041A>T (n.*1041A>T) c.*709A>T (n.*709A>T) c.*3245A>T (n.*3245A>T) c.*664A>T (n.*664A>T) c.2326A>T (p.Lys776Ter) c.160A>T (p.Lys54Ter) c.573A>T n.2865A>T c.2692A>T (p.Lys898Ter) c.1969A>T (p.Lys657Ter) c.520A>T (p.Lys174Ter) | dbSNP |
2 | g.165344715A= | CA1304545501 | SCN2A | c.2723A= (p.Lys908=) c.*1042A= (n.*1042A=) c.*710A= (n.*710A=) c.*3246A= (n.*3246A=) c.*665A= (n.*665A=) c.2327A= (p.Lys776=) c.161A= (p.Lys54=) c.574A= n.2866A= c.2693A= (p.Lys898=) c.1970A= (p.Lys657=) c.521A= (p.Lys174=) | |
2 | g.165344715A>C | CA349014829 | SCN2A | c.2723A>C (p.Lys908Thr) c.*1042A>C (n.*1042A>C) c.*710A>C (n.*710A>C) c.*3246A>C (n.*3246A>C) c.*665A>C (n.*665A>C) c.2327A>C (p.Lys776Thr) c.161A>C (p.Lys54Thr) c.574A>C n.2866A>C c.2693A>C (p.Lys898Thr) c.1970A>C (p.Lys657Thr) c.521A>C (p.Lys174Thr) | |
2 | g.165344715A>G | CA155058 | SCN2A | c.2723A>G (p.Lys908Arg) c.*1042A>G (n.*1042A>G) c.*710A>G (n.*710A>G) c.*3246A>G (n.*3246A>G) c.*665A>G (n.*665A>G) c.2327A>G (p.Lys776Arg) c.161A>G (p.Lys54Arg) c.574A>G n.2866A>G c.2693A>G (p.Lys898Arg) c.1970A>G (p.Lys657Arg) c.521A>G (p.Lys174Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165344715A>T | CA349014836 | SCN2A | c.2723A>T (p.Lys908Ile) c.*1042A>T (n.*1042A>T) c.*710A>T (n.*710A>T) c.*3246A>T (n.*3246A>T) c.*665A>T (n.*665A>T) c.2327A>T (p.Lys776Ile) c.161A>T (p.Lys54Ile) c.574A>T n.2866A>T c.2693A>T (p.Lys898Ile) c.1970A>T (p.Lys657Ile) c.521A>T (p.Lys174Ile) | |
2 | g.165344716A>C | CA349014841 | SCN2A | c.2724A>C (p.Lys908Asn) c.*1043A>C (n.*1043A>C) c.*711A>C (n.*711A>C) c.*3247A>C (n.*3247A>C) c.*666A>C (n.*666A>C) c.2328A>C (p.Lys776Asn) c.162A>C (p.Lys54Asn) c.575A>C n.2867A>C c.2694A>C (p.Lys898Asn) c.1971A>C (p.Lys657Asn) c.522A>C (p.Lys174Asn) | |
2 | g.165344716A>G | CA429972250 | SCN2A | c.2724A>G (p.Lys908=) c.*1043A>G (n.*1043A>G) c.*711A>G (n.*711A>G) c.*3247A>G (n.*3247A>G) c.*666A>G (n.*666A>G) c.2328A>G (p.Lys776=) c.162A>G (p.Lys54=) c.575A>G n.2867A>G c.2694A>G (p.Lys898=) c.1971A>G (p.Lys657=) c.522A>G (p.Lys174=) | gnomAD v4 |
2 | g.165344716A>T | CA349014842 | SCN2A | c.2724A>T (p.Lys908Asn) c.*1043A>T (n.*1043A>T) c.*711A>T (n.*711A>T) c.*3247A>T (n.*3247A>T) c.*666A>T (n.*666A>T) c.2328A>T (p.Lys776Asn) c.162A>T (p.Lys54Asn) c.575A>T n.2867A>T c.2694A>T (p.Lys898Asn) c.1971A>T (p.Lys657Asn) c.522A>T (p.Lys174Asn) | |
2 | g.165344717G>A | CA349014846 | SCN2A | c.2725G>A (p.Glu909Lys) c.*1044G>A (n.*1044G>A) c.*712G>A (n.*712G>A) c.*3248G>A (n.*3248G>A) c.*667G>A (n.*667G>A) c.2329G>A (p.Glu777Lys) c.163G>A (p.Glu55Lys) c.576G>A n.2868G>A c.2695G>A (p.Glu899Lys) c.1972G>A (p.Glu658Lys) c.523G>A (p.Glu175Lys) | ClinVar dbSNP COSMIC COSMIC |
2 | g.165344717G>C | CA349014844 | SCN2A | c.2725G>C (p.Glu909Gln) c.*1044G>C (n.*1044G>C) c.*712G>C (n.*712G>C) c.*3248G>C (n.*3248G>C) c.*667G>C (n.*667G>C) c.2329G>C (p.Glu777Gln) c.163G>C (p.Glu55Gln) c.576G>C n.2868G>C c.2695G>C (p.Glu899Gln) c.1972G>C (p.Glu658Gln) c.523G>C (p.Glu175Gln) | |
2 | g.165344717G= | CA1304545502 | SCN2A | c.2725G= (p.Glu909=) c.*1044G= (n.*1044G=) c.*712G= (n.*712G=) c.*3248G= (n.*3248G=) c.*667G= (n.*667G=) c.2329G= (p.Glu777=) c.163G= (p.Glu55=) c.576G= n.2868G= c.2695G= (p.Glu899=) c.1972G= (p.Glu658=) c.523G= (p.Glu175=) | |
2 | g.165344717G>T | CA349014843 | SCN2A | c.2725G>T (p.Glu909Ter) c.*1044G>T (n.*1044G>T) c.*712G>T (n.*712G>T) c.*3248G>T (n.*3248G>T) c.*667G>T (n.*667G>T) c.2329G>T (p.Glu777Ter) c.163G>T (p.Glu55Ter) c.576G>T n.2868G>T c.2695G>T (p.Glu899Ter) c.1972G>T (p.Glu658Ter) c.523G>T (p.Glu175Ter) | dbSNP |
2 | g.165344718A>C | CA349014862 | SCN2A | c.2726A>C (p.Glu909Ala) c.*1045A>C (n.*1045A>C) c.*713A>C (n.*713A>C) c.*3249A>C (n.*3249A>C) c.*668A>C (n.*668A>C) c.2330A>C (p.Glu777Ala) c.164A>C (p.Glu55Ala) c.577A>C n.2869A>C c.2696A>C (p.Glu899Ala) c.1973A>C (p.Glu658Ala) c.524A>C (p.Glu175Ala) | |
2 | g.165344718A>G | CA349014850 | SCN2A | c.2726A>G (p.Glu909Gly) c.*1045A>G (n.*1045A>G) c.*713A>G (n.*713A>G) c.*3249A>G (n.*3249A>G) c.*668A>G (n.*668A>G) c.2330A>G (p.Glu777Gly) c.164A>G (p.Glu55Gly) c.577A>G n.2869A>G c.2696A>G (p.Glu899Gly) c.1973A>G (p.Glu658Gly) c.524A>G (p.Glu175Gly) | |
2 | g.165344718A>T | CA349014860 | SCN2A | c.2726A>T (p.Glu909Val) c.*1045A>T (n.*1045A>T) c.*713A>T (n.*713A>T) c.*3249A>T (n.*3249A>T) c.*668A>T (n.*668A>T) c.2330A>T (p.Glu777Val) c.164A>T (p.Glu55Val) c.577A>T n.2869A>T c.2696A>T (p.Glu899Val) c.1973A>T (p.Glu658Val) c.524A>T (p.Glu175Val) | |
2 | g.165344719A= | CA1304545503 | SCN2A | c.2727A= (p.Glu909=) c.*1046A= (n.*1046A=) c.*714A= (n.*714A=) c.*3250A= (n.*3250A=) c.*669A= (n.*669A=) c.2331A= (p.Glu777=) c.165A= (p.Glu55=) c.578A= n.2870A= c.2697A= (p.Glu899=) c.1974A= (p.Glu658=) c.525A= (p.Glu175=) | |
2 | g.165344719A>C | CA349014865 | SCN2A | c.2727A>C (p.Glu909Asp) c.*1046A>C (n.*1046A>C) c.*714A>C (n.*714A>C) c.*3250A>C (n.*3250A>C) c.*669A>C (n.*669A>C) c.2331A>C (p.Glu777Asp) c.165A>C (p.Glu55Asp) c.578A>C n.2870A>C c.2697A>C (p.Glu899Asp) c.1974A>C (p.Glu658Asp) c.525A>C (p.Glu175Asp) | |
2 | g.165344719A>G | CA1940015 | SCN2A | c.2727A>G (p.Glu909=) c.*1046A>G (n.*1046A>G) c.*714A>G (n.*714A>G) c.*3250A>G (n.*3250A>G) c.*669A>G (n.*669A>G) c.2331A>G (p.Glu777=) c.165A>G (p.Glu55=) c.578A>G n.2870A>G c.2697A>G (p.Glu899=) c.1974A>G (p.Glu658=) c.525A>G (p.Glu175=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.165344719A>T | CA349014870 | SCN2A | c.2727A>T (p.Glu909Asp) c.*1046A>T (n.*1046A>T) c.*714A>T (n.*714A>T) c.*3250A>T (n.*3250A>T) c.*669A>T (n.*669A>T) c.2331A>T (p.Glu777Asp) c.165A>T (p.Glu55Asp) c.578A>T n.2870A>T c.2697A>T (p.Glu899Asp) c.1974A>T (p.Glu658Asp) c.525A>T (p.Glu175Asp) | |
2 | g.165344720T>A | CA349014882 | SCN2A | c.2728T>A (p.Cys910Ser) c.*1047T>A (n.*1047T>A) c.*715T>A (n.*715T>A) c.*3251T>A (n.*3251T>A) c.*670T>A (n.*670T>A) c.2332T>A (p.Cys778Ser) c.166T>A (p.Cys56Ser) c.579T>A n.2871T>A c.2698T>A (p.Cys900Ser) c.1975T>A (p.Cys659Ser) c.526T>A (p.Cys176Ser) | |
2 | g.165344720T>C | CA349014897 | SCN2A | c.2728T>C (p.Cys910Arg) c.*1047T>C (n.*1047T>C) c.*715T>C (n.*715T>C) c.*3251T>C (n.*3251T>C) c.*670T>C (n.*670T>C) c.2332T>C (p.Cys778Arg) c.166T>C (p.Cys56Arg) c.579T>C n.2871T>C c.2698T>C (p.Cys900Arg) c.1975T>C (p.Cys659Arg) c.526T>C (p.Cys176Arg) | gnomAD v4 |
2 | g.165344720T>G | CA349014924 | SCN2A | c.2728T>G (p.Cys910Gly) c.*1047T>G (n.*1047T>G) c.*715T>G (n.*715T>G) c.*3251T>G (n.*3251T>G) c.*670T>G (n.*670T>G) c.2332T>G (p.Cys778Gly) c.166T>G (p.Cys56Gly) c.579T>G n.2871T>G c.2698T>G (p.Cys900Gly) c.1975T>G (p.Cys659Gly) c.526T>G (p.Cys176Gly) | |
2 | g.165344726_165344727insTTGTGTCT | CA1304545504 | SCN2A | c.2734_2735insTTGTGTCT (p.Cys912PhefsTer25) c.*1053_*1054insTTGTGTCT (n.*1053_*1054insTTGTGTCT) c.*721_*722insTTGTGTCT (n.*721_*722insTTGTGTCT) c.*3257_*3258insTTGTGTCT (n.*3257_*3258insTTGTGTCT) c.*676_*677insTTGTGTCT (n.*676_*677insTTGTGTCT) c.2338_2339insTTGTGTCT (p.Cys780PhefsTer25) c.172_173insTTGTGTCT (p.Cys58PhefsTer25) c.585_586insTTGTGTCT n.2877_2878insTTGTGTCT c.2704_2705insTTGTGTCT (p.Cys902PhefsTer25) c.1981_1982insTTGTGTCT (p.Cys661PhefsTer25) c.532_533insTTGTGTCT (p.Cys178PhefsTer25) | dbSNP |
2 | g.165344721G>A | CA349014929 | SCN2A | c.2729G>A (p.Cys910Tyr) c.*1048G>A (n.*1048G>A) c.*716G>A (n.*716G>A) c.*3252G>A (n.*3252G>A) c.*671G>A (n.*671G>A) c.2333G>A (p.Cys778Tyr) c.167G>A (p.Cys56Tyr) c.580G>A n.2872G>A c.2699G>A (p.Cys900Tyr) c.1976G>A (p.Cys659Tyr) c.527G>A (p.Cys176Tyr) | |
2 | g.165344721G>C | CA349014938 | SCN2A | c.2729G>C (p.Cys910Ser) c.*1048G>C (n.*1048G>C) c.*716G>C (n.*716G>C) c.*3252G>C (n.*3252G>C) c.*671G>C (n.*671G>C) c.2333G>C (p.Cys778Ser) c.167G>C (p.Cys56Ser) c.580G>C n.2872G>C c.2699G>C (p.Cys900Ser) c.1976G>C (p.Cys659Ser) c.527G>C (p.Cys176Ser) | |
2 | g.165344721G>T | CA349014942 | SCN2A | c.2729G>T (p.Cys910Phe) c.*1048G>T (n.*1048G>T) c.*716G>T (n.*716G>T) c.*3252G>T (n.*3252G>T) c.*671G>T (n.*671G>T) c.2333G>T (p.Cys778Phe) c.167G>T (p.Cys56Phe) c.580G>T n.2872G>T c.2699G>T (p.Cys900Phe) c.1976G>T (p.Cys659Phe) c.527G>T (p.Cys176Phe) | |
2 | g.165344722T>A | CA349014947 | SCN2A | c.2730T>A (p.Cys910Ter) c.*1049T>A (n.*1049T>A) c.*717T>A (n.*717T>A) c.*3253T>A (n.*3253T>A) c.*672T>A (n.*672T>A) c.2334T>A (p.Cys778Ter) c.168T>A (p.Cys56Ter) c.581T>A n.2873T>A c.2700T>A (p.Cys900Ter) c.1977T>A (p.Cys659Ter) c.528T>A (p.Cys176Ter) | dbSNP |
2 | g.165344722T>C | CA429972281 | SCN2A | c.2730T>C (p.Cys910=) c.*1049T>C (n.*1049T>C) c.*717T>C (n.*717T>C) c.*3253T>C (n.*3253T>C) c.*672T>C (n.*672T>C) c.2334T>C (p.Cys778=) c.168T>C (p.Cys56=) c.581T>C n.2873T>C c.2700T>C (p.Cys900=) c.1977T>C (p.Cys659=) c.528T>C (p.Cys176=) | gnomAD v4 |
2 | g.165344722T>G | CA349014953 | SCN2A | c.2730T>G (p.Cys910Trp) c.*1049T>G (n.*1049T>G) c.*717T>G (n.*717T>G) c.*3253T>G (n.*3253T>G) c.*672T>G (n.*672T>G) c.2334T>G (p.Cys778Trp) c.168T>G (p.Cys56Trp) c.581T>G n.2873T>G c.2700T>G (p.Cys900Trp) c.1977T>G (p.Cys659Trp) c.528T>G (p.Cys176Trp) | ClinVar |
2 | g.165344722T= | CA1304545505 | SCN2A | c.2730T= (p.Cys910=) c.*1049T= (n.*1049T=) c.*717T= (n.*717T=) c.*3253T= (n.*3253T=) c.*672T= (n.*672T=) c.2334T= (p.Cys778=) c.168T= (p.Cys56=) c.581T= n.2873T= c.2700T= (p.Cys900=) c.1977T= (p.Cys659=) c.528T= (p.Cys176=) |