| 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.165344614T>A | CA429885369 | SCN2A | c.2622T>A (p.Ile874=) c.*941T>A (n.*941T>A) c.*609T>A (n.*609T>A) c.*3145T>A (n.*3145T>A) c.*564T>A (n.*564T>A) c.2226T>A (p.Ile742=) c.60T>A (p.Ile20=) c.473T>A n.2765T>A c.2592T>A (p.Ile864=) c.1869T>A (p.Ile623=) c.420T>A (p.Ile140=) | |
| 2 | g.165344614T>C | CA429885370 | SCN2A | c.2622T>C (p.Ile874=) c.*941T>C (n.*941T>C) c.*609T>C (n.*609T>C) c.*3145T>C (n.*3145T>C) c.*564T>C (n.*564T>C) c.2226T>C (p.Ile742=) c.60T>C (p.Ile20=) c.473T>C n.2765T>C c.2592T>C (p.Ile864=) c.1869T>C (p.Ile623=) c.420T>C (p.Ile140=) | |
| 2 | g.165344614T>G | CA349013360 | SCN2A | c.2622T>G (p.Ile874Met) c.*941T>G (n.*941T>G) c.*609T>G (n.*609T>G) c.*3145T>G (n.*3145T>G) c.*564T>G (n.*564T>G) c.2226T>G (p.Ile742Met) c.60T>G (p.Ile20Met) c.473T>G n.2765T>G c.2592T>G (p.Ile864Met) c.1869T>G (p.Ile623Met) c.420T>G (p.Ile140Met) | |
| 2 | g.165344615G>A | CA349013364 | SCN2A | c.2623G>A (p.Gly875Ser) c.*942G>A (n.*942G>A) c.*610G>A (n.*610G>A) c.*3146G>A (n.*3146G>A) c.*565G>A (n.*565G>A) c.2227G>A (p.Gly743Ser) c.61G>A (p.Gly21Ser) c.474G>A n.2766G>A c.2593G>A (p.Gly865Ser) c.1870G>A (p.Gly624Ser) c.421G>A (p.Gly141Ser) | |
| 2 | g.165344615G>C | CA349013372 | SCN2A | c.2623G>C (p.Gly875Arg) c.*942G>C (n.*942G>C) c.*610G>C (n.*610G>C) c.*3146G>C (n.*3146G>C) c.*565G>C (n.*565G>C) c.2227G>C (p.Gly743Arg) c.61G>C (p.Gly21Arg) c.474G>C n.2766G>C c.2593G>C (p.Gly865Arg) c.1870G>C (p.Gly624Arg) c.421G>C (p.Gly141Arg) | |
| 2 | g.165344615G>T | CA349013367 | SCN2A | c.2623G>T (p.Gly875Cys) c.*942G>T (n.*942G>T) c.*610G>T (n.*610G>T) c.*3146G>T (n.*3146G>T) c.*565G>T (n.*565G>T) c.2227G>T (p.Gly743Cys) c.61G>T (p.Gly21Cys) c.474G>T n.2766G>T c.2593G>T (p.Gly865Cys) c.1870G>T (p.Gly624Cys) c.421G>T (p.Gly141Cys) | |
| 2 | g.165344616G>A | CA349013373 | SCN2A | c.2624G>A (p.Gly875Asp) c.*943G>A (n.*943G>A) c.*611G>A (n.*611G>A) c.*3147G>A (n.*3147G>A) c.*566G>A (n.*566G>A) c.2228G>A (p.Gly743Asp) c.62G>A (p.Gly21Asp) c.475G>A n.2767G>A c.2594G>A (p.Gly865Asp) c.1871G>A (p.Gly624Asp) c.422G>A (p.Gly141Asp) | gnomAD v4 |
| 2 | g.165344616G>C | CA349013374 | SCN2A | c.2624G>C (p.Gly875Ala) c.*943G>C (n.*943G>C) c.*611G>C (n.*611G>C) c.*3147G>C (n.*3147G>C) c.*566G>C (n.*566G>C) c.2228G>C (p.Gly743Ala) c.62G>C (p.Gly21Ala) c.475G>C n.2767G>C c.2594G>C (p.Gly865Ala) c.1871G>C (p.Gly624Ala) c.422G>C (p.Gly141Ala) | |
| 2 | g.165344616G>T | CA349013377 | SCN2A | c.2624G>T (p.Gly875Val) c.*943G>T (n.*943G>T) c.*611G>T (n.*611G>T) c.*3147G>T (n.*3147G>T) c.*566G>T (n.*566G>T) c.2228G>T (p.Gly743Val) c.62G>T (p.Gly21Val) c.475G>T n.2767G>T c.2594G>T (p.Gly865Val) c.1871G>T (p.Gly624Val) c.422G>T (p.Gly141Val) | |
| 2 | g.165344617C>A | CA429885372 | SCN2A | c.2625C>A (p.Gly875=) c.*944C>A (n.*944C>A) c.*612C>A (n.*612C>A) c.*3148C>A (n.*3148C>A) c.*567C>A (n.*567C>A) c.2229C>A (p.Gly743=) c.63C>A (p.Gly21=) c.476C>A n.2768C>A c.2595C>A (p.Gly865=) c.1872C>A (p.Gly624=) c.423C>A (p.Gly141=) | |
| 2 | g.165344617C= | CA1304545463 | SCN2A | c.2625C= (p.Gly875=) c.*944C= (n.*944C=) c.*612C= (n.*612C=) c.*3148C= (n.*3148C=) c.*567C= (n.*567C=) c.2229C= (p.Gly743=) c.63C= (p.Gly21=) c.476C= n.2768C= c.2595C= (p.Gly865=) c.1872C= (p.Gly624=) c.423C= (p.Gly141=) | |
| 2 | g.165344617C>G | CA429885371 | SCN2A | c.2625C>G (p.Gly875=) c.*944C>G (n.*944C>G) c.*612C>G (n.*612C>G) c.*3148C>G (n.*3148C>G) c.*567C>G (n.*567C>G) c.2229C>G (p.Gly743=) c.63C>G (p.Gly21=) c.476C>G n.2768C>G c.2595C>G (p.Gly865=) c.1872C>G (p.Gly624=) c.423C>G (p.Gly141=) | |
| 2 | g.165344617C>T | CA1940010 | SCN2A | c.2625C>T (p.Gly875=) c.*944C>T (n.*944C>T) c.*612C>T (n.*612C>T) c.*3148C>T (n.*3148C>T) c.*567C>T (n.*567C>T) c.2229C>T (p.Gly743=) c.63C>T (p.Gly21=) c.476C>T n.2768C>T c.2595C>T (p.Gly865=) c.1872C>T (p.Gly624=) c.423C>T (p.Gly141=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.165344618A>C | CA349013382 | SCN2A | c.2626A>C (p.Asn876His) c.*945A>C (n.*945A>C) c.*613A>C (n.*613A>C) c.*3149A>C (n.*3149A>C) c.*568A>C (n.*568A>C) c.2230A>C (p.Asn744His) c.64A>C (p.Asn22His) c.477A>C n.2769A>C c.2596A>C (p.Asn866His) c.1873A>C (p.Asn625His) c.424A>C (p.Asn142His) | |
| 2 | g.165344618A>G | CA349013384 | SCN2A | c.2626A>G (p.Asn876Asp) c.*945A>G (n.*945A>G) c.*613A>G (n.*613A>G) c.*3149A>G (n.*3149A>G) c.*568A>G (n.*568A>G) c.2230A>G (p.Asn744Asp) c.64A>G (p.Asn22Asp) c.477A>G n.2769A>G c.2596A>G (p.Asn866Asp) c.1873A>G (p.Asn625Asp) c.424A>G (p.Asn142Asp) | |
| 2 | g.165344618A>T | CA349013386 | SCN2A | c.2626A>T (p.Asn876Tyr) c.*945A>T (n.*945A>T) c.*613A>T (n.*613A>T) c.*3149A>T (n.*3149A>T) c.*568A>T (n.*568A>T) c.2230A>T (p.Asn744Tyr) c.64A>T (p.Asn22Tyr) c.477A>T n.2769A>T c.2596A>T (p.Asn866Tyr) c.1873A>T (p.Asn625Tyr) c.424A>T (p.Asn142Tyr) | ClinVar |
| 2 | g.165344619A= | CA1304545464 | SCN2A | c.2627A= (p.Asn876=) c.*946A= (n.*946A=) c.*614A= (n.*614A=) c.*3150A= (n.*3150A=) c.*569A= (n.*569A=) c.2231A= (p.Asn744=) c.65A= (p.Asn22=) c.478A= n.2770A= c.2597A= (p.Asn866=) c.1874A= (p.Asn625=) c.425A= (p.Asn142=) | |
| 2 | g.165344619A>C | CA349013388 | SCN2A | c.2627A>C (p.Asn876Thr) c.*946A>C (n.*946A>C) c.*614A>C (n.*614A>C) c.*3150A>C (n.*3150A>C) c.*569A>C (n.*569A>C) c.2231A>C (p.Asn744Thr) c.65A>C (p.Asn22Thr) c.478A>C n.2770A>C c.2597A>C (p.Asn866Thr) c.1874A>C (p.Asn625Thr) c.425A>C (p.Asn142Thr) | |
| 2 | g.165344619A>G | CA349013390 | SCN2A | c.2627A>G (p.Asn876Ser) c.*946A>G (n.*946A>G) c.*614A>G (n.*614A>G) c.*3150A>G (n.*3150A>G) c.*569A>G (n.*569A>G) c.2231A>G (p.Asn744Ser) c.65A>G (p.Asn22Ser) c.478A>G n.2770A>G c.2597A>G (p.Asn866Ser) c.1874A>G (p.Asn625Ser) c.425A>G (p.Asn142Ser) | ClinVar dbSNP |
| 2 | g.165344619A>T | CA349013392 | SCN2A | c.2627A>T (p.Asn876Ile) c.*946A>T (n.*946A>T) c.*614A>T (n.*614A>T) c.*3150A>T (n.*3150A>T) c.*569A>T (n.*569A>T) c.2231A>T (p.Asn744Ile) c.65A>T (p.Asn22Ile) c.478A>T n.2770A>T c.2597A>T (p.Asn866Ile) c.1874A>T (p.Asn625Ile) c.425A>T (p.Asn142Ile) | |
| 2 | g.165344620T>A | CA349013394 | SCN2A | c.2628T>A (p.Asn876Lys) c.*947T>A (n.*947T>A) c.*615T>A (n.*615T>A) c.*3151T>A (n.*3151T>A) c.*570T>A (n.*570T>A) c.2232T>A (p.Asn744Lys) c.66T>A (p.Asn22Lys) c.479T>A n.2771T>A c.2598T>A (p.Asn866Lys) c.1875T>A (p.Asn625Lys) c.426T>A (p.Asn142Lys) | |
| 2 | g.165344620T>C | CA429885373 | SCN2A | c.2628T>C (p.Asn876=) c.*947T>C (n.*947T>C) c.*615T>C (n.*615T>C) c.*3151T>C (n.*3151T>C) c.*570T>C (n.*570T>C) c.2232T>C (p.Asn744=) c.66T>C (p.Asn22=) c.479T>C n.2771T>C c.2598T>C (p.Asn866=) c.1875T>C (p.Asn625=) c.426T>C (p.Asn142=) | |
| 2 | g.165344620T>G | CA349013399 | SCN2A | c.2628T>G (p.Asn876Lys) c.*947T>G (n.*947T>G) c.*615T>G (n.*615T>G) c.*3151T>G (n.*3151T>G) c.*570T>G (n.*570T>G) c.2232T>G (p.Asn744Lys) c.66T>G (p.Asn22Lys) c.479T>G n.2771T>G c.2598T>G (p.Asn866Lys) c.1875T>G (p.Asn625Lys) c.426T>G (p.Asn142Lys) | |
| 2 | g.165344621T>A | CA349013400 | SCN2A | c.2629T>A (p.Ser877Thr) c.*948T>A (n.*948T>A) c.*616T>A (n.*616T>A) c.*3152T>A (n.*3152T>A) c.*571T>A (n.*571T>A) c.2233T>A (p.Ser745Thr) c.67T>A (p.Ser23Thr) c.480T>A n.2772T>A c.2599T>A (p.Ser867Thr) c.1876T>A (p.Ser626Thr) c.427T>A (p.Ser143Thr) | |
| 2 | g.165344621T>C | CA349013404 | SCN2A | c.2629T>C (p.Ser877Pro) c.*948T>C (n.*948T>C) c.*616T>C (n.*616T>C) c.*3152T>C (n.*3152T>C) c.*571T>C (n.*571T>C) c.2233T>C (p.Ser745Pro) c.67T>C (p.Ser23Pro) c.480T>C n.2772T>C c.2599T>C (p.Ser867Pro) c.1876T>C (p.Ser626Pro) c.427T>C (p.Ser143Pro) | |
| 2 | g.165344621T>G | CA349013402 | SCN2A | c.2629T>G (p.Ser877Ala) c.*948T>G (n.*948T>G) c.*616T>G (n.*616T>G) c.*3152T>G (n.*3152T>G) c.*571T>G (n.*571T>G) c.2233T>G (p.Ser745Ala) c.67T>G (p.Ser23Ala) c.480T>G n.2772T>G c.2599T>G (p.Ser867Ala) c.1876T>G (p.Ser626Ala) c.427T>G (p.Ser143Ala) | |
| 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) |