Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38894661C>A | CA352174557 | SCN11A | c.2707G>T (p.Val903Leu) c.2527G>T (p.Val843Leu) c.2751G>T (n.2751G>T) c.2326G>T (p.Val776Leu) c.2044G>T (p.Val682Leu) c.1255G>T (p.Val419Leu) c.3082G>T (p.Val1028Leu) c.2509G>T (p.Val837Leu) c.2434G>T (p.Val812Leu) c.1111G>T (p.Val371Leu) | |
3 | g.38894661C>G | CA352174558 | SCN11A | c.2707G>C (p.Val903Leu) c.2527G>C (p.Val843Leu) c.2751G>C (n.2751G>C) c.2326G>C (p.Val776Leu) c.2044G>C (p.Val682Leu) c.1255G>C (p.Val419Leu) c.3082G>C (p.Val1028Leu) c.2509G>C (p.Val837Leu) c.2434G>C (p.Val812Leu) c.1111G>C (p.Val371Leu) | |
3 | g.38894661C>T | CA352174559 | SCN11A | c.2707G>A (p.Val903Ile) c.2527G>A (p.Val843Ile) c.2751G>A (n.2751G>A) c.2326G>A (p.Val776Ile) c.2044G>A (p.Val682Ile) c.1255G>A (p.Val419Ile) c.3082G>A (p.Val1028Ile) c.2509G>A (p.Val837Ile) c.2434G>A (p.Val812Ile) c.1111G>A (p.Val371Ile) | |
3 | g.38894662A>C | CA433336044 | SCN11A | c.2706T>G (p.Ser902=) c.2526T>G (p.Ser842=) c.2750T>G (n.2750T>G) c.2325T>G (p.Ser775=) c.2043T>G (p.Ser681=) c.1254T>G (p.Ser418=) c.3081T>G (p.Ser1027=) c.2508T>G (p.Ser836=) c.2433T>G (p.Ser811=) c.1110T>G (p.Ser370=) | |
3 | g.38894662A>G | CA433336045 | SCN11A | c.2706T>C (p.Ser902=) c.2526T>C (p.Ser842=) c.2750T>C (n.2750T>C) c.2325T>C (p.Ser775=) c.2043T>C (p.Ser681=) c.1254T>C (p.Ser418=) c.3081T>C (p.Ser1027=) c.2508T>C (p.Ser836=) c.2433T>C (p.Ser811=) c.1110T>C (p.Ser370=) | gnomAD v4 |
3 | g.38894662A>T | CA433336046 | SCN11A | c.2706T>A (p.Ser902=) c.2526T>A (p.Ser842=) c.2750T>A (n.2750T>A) c.2325T>A (p.Ser775=) c.2043T>A (p.Ser681=) c.1254T>A (p.Ser418=) c.3081T>A (p.Ser1027=) c.2508T>A (p.Ser836=) c.2433T>A (p.Ser811=) c.1110T>A (p.Ser370=) | |
3 | g.38894663G>A | CA352174560 | SCN11A | c.2705C>T (p.Ser902Phe) c.2525C>T (p.Ser842Phe) c.2749C>T (n.2749C>T) c.2324C>T (p.Ser775Phe) c.2042C>T (p.Ser681Phe) c.1253C>T (p.Ser418Phe) c.3080C>T (p.Ser1027Phe) c.2507C>T (p.Ser836Phe) c.2432C>T (p.Ser811Phe) c.1109C>T (p.Ser370Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894663G>C | CA352174561 | SCN11A | c.2705C>G (p.Ser902Cys) c.2525C>G (p.Ser842Cys) c.2749C>G (n.2749C>G) c.2324C>G (p.Ser775Cys) c.2042C>G (p.Ser681Cys) c.1253C>G (p.Ser418Cys) c.3080C>G (p.Ser1027Cys) c.2507C>G (p.Ser836Cys) c.2432C>G (p.Ser811Cys) c.1109C>G (p.Ser370Cys) | |
3 | g.38894663G= | CA1358718156 | SCN11A | c.2705C= (p.Ser902=) c.2525C= (p.Ser842=) c.2749C= (n.2749C=) c.2324C= (p.Ser775=) c.2042C= (p.Ser681=) c.1253C= (p.Ser418=) c.3080C= (p.Ser1027=) c.2507C= (p.Ser836=) c.2432C= (p.Ser811=) c.1109C= (p.Ser370=) | |
3 | g.38894663G>T | CA2321987 | SCN11A | c.2705C>A (p.Ser902Tyr) c.2525C>A (p.Ser842Tyr) c.2749C>A (n.2749C>A) c.2324C>A (p.Ser775Tyr) c.2042C>A (p.Ser681Tyr) c.1253C>A (p.Ser418Tyr) c.3080C>A (p.Ser1027Tyr) c.2507C>A (p.Ser836Tyr) c.2432C>A (p.Ser811Tyr) c.1109C>A (p.Ser370Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38894664A= | CA1358718157 | SCN11A | c.2704T= (p.Ser902=) c.2524T= (p.Ser842=) c.2748T= (n.2748T=) c.2323T= (p.Ser775=) c.2041T= (p.Ser681=) c.1252T= (p.Ser418=) c.3079T= (p.Ser1027=) c.2506T= (p.Ser836=) c.2431T= (p.Ser811=) c.1108T= (p.Ser370=) | |
3 | g.38894664A>C | CA352174564 | SCN11A | c.2704T>G (p.Ser902Ala) c.2524T>G (p.Ser842Ala) c.2748T>G (n.2748T>G) c.2323T>G (p.Ser775Ala) c.2041T>G (p.Ser681Ala) c.1252T>G (p.Ser418Ala) c.3079T>G (p.Ser1027Ala) c.2506T>G (p.Ser836Ala) c.2431T>G (p.Ser811Ala) c.1108T>G (p.Ser370Ala) | |
3 | g.38894664A>G | CA352174563 | SCN11A | c.2704T>C (p.Ser902Pro) c.2524T>C (p.Ser842Pro) c.2748T>C (n.2748T>C) c.2323T>C (p.Ser775Pro) c.2041T>C (p.Ser681Pro) c.1252T>C (p.Ser418Pro) c.3079T>C (p.Ser1027Pro) c.2506T>C (p.Ser836Pro) c.2431T>C (p.Ser811Pro) c.1108T>C (p.Ser370Pro) | dbSNP |
3 | g.38894664A>T | CA352174562 | SCN11A | c.2704T>A (p.Ser902Thr) c.2524T>A (p.Ser842Thr) c.2748T>A (n.2748T>A) c.2323T>A (p.Ser775Thr) c.2041T>A (p.Ser681Thr) c.1252T>A (p.Ser418Thr) c.3079T>A (p.Ser1027Thr) c.2506T>A (p.Ser836Thr) c.2431T>A (p.Ser811Thr) c.1108T>A (p.Ser370Thr) | dbSNP |
3 | g.38894665G>A | CA2321988 | SCN11A | c.2703C>T (p.Thr901=) c.2523C>T (p.Thr841=) c.2747C>T (n.2747C>T) c.2322C>T (p.Thr774=) c.2040C>T (p.Thr680=) c.1251C>T (p.Thr417=) c.3078C>T (p.Thr1026=) c.2505C>T (p.Thr835=) c.2430C>T (p.Thr810=) c.1107C>T (p.Thr369=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38894665G>C | CA433336047 | SCN11A | c.2703C>G (p.Thr901=) c.2523C>G (p.Thr841=) c.2747C>G (n.2747C>G) c.2322C>G (p.Thr774=) c.2040C>G (p.Thr680=) c.1251C>G (p.Thr417=) c.3078C>G (p.Thr1026=) c.2505C>G (p.Thr835=) c.2430C>G (p.Thr810=) c.1107C>G (p.Thr369=) | |
3 | g.38894665G= | CA1358718158 | SCN11A | c.2703C= (p.Thr901=) c.2523C= (p.Thr841=) c.2747C= (n.2747C=) c.2322C= (p.Thr774=) c.2040C= (p.Thr680=) c.1251C= (p.Thr417=) c.3078C= (p.Thr1026=) c.2505C= (p.Thr835=) c.2430C= (p.Thr810=) c.1107C= (p.Thr369=) | |
3 | g.38894665G>T | CA433336048 | SCN11A | c.2703C>A (p.Thr901=) c.2523C>A (p.Thr841=) c.2747C>A (n.2747C>A) c.2322C>A (p.Thr774=) c.2040C>A (p.Thr680=) c.1251C>A (p.Thr417=) c.3078C>A (p.Thr1026=) c.2505C>A (p.Thr835=) c.2430C>A (p.Thr810=) c.1107C>A (p.Thr369=) | gnomAD v4 |
3 | g.38894666G>A | CA352174565 | SCN11A | c.2702C>T (p.Thr901Ile) c.2522C>T (p.Thr841Ile) c.2746C>T (n.2746C>T) c.2321C>T (p.Thr774Ile) c.2039C>T (p.Thr680Ile) c.1250C>T (p.Thr417Ile) c.3077C>T (p.Thr1026Ile) c.2504C>T (p.Thr835Ile) c.2429C>T (p.Thr810Ile) c.1106C>T (p.Thr369Ile) | gnomAD v4 |
3 | g.38894666G>C | CA352174566 | SCN11A | c.2702C>G (p.Thr901Ser) c.2522C>G (p.Thr841Ser) c.2746C>G (n.2746C>G) c.2321C>G (p.Thr774Ser) c.2039C>G (p.Thr680Ser) c.1250C>G (p.Thr417Ser) c.3077C>G (p.Thr1026Ser) c.2504C>G (p.Thr835Ser) c.2429C>G (p.Thr810Ser) c.1106C>G (p.Thr369Ser) | |
3 | g.38894666G= | CA1358718159 | SCN11A | c.2702C= (p.Thr901=) c.2522C= (p.Thr841=) c.2746C= (n.2746C=) c.2321C= (p.Thr774=) c.2039C= (p.Thr680=) c.1250C= (p.Thr417=) c.3077C= (p.Thr1026=) c.2504C= (p.Thr835=) c.2429C= (p.Thr810=) c.1106C= (p.Thr369=) | |
3 | g.38894666G>T | CA352174567 | SCN11A | c.2702C>A (p.Thr901Asn) c.2522C>A (p.Thr841Asn) c.2746C>A (n.2746C>A) c.2321C>A (p.Thr774Asn) c.2039C>A (p.Thr680Asn) c.1250C>A (p.Thr417Asn) c.3077C>A (p.Thr1026Asn) c.2504C>A (p.Thr835Asn) c.2429C>A (p.Thr810Asn) c.1106C>A (p.Thr369Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894667T>A | CA352174568 | SCN11A | c.2701A>T (p.Thr901Ser) c.2521A>T (p.Thr841Ser) c.2745A>T (n.2745A>T) c.2320A>T (p.Thr774Ser) c.2038A>T (p.Thr680Ser) c.1249A>T (p.Thr417Ser) c.3076A>T (p.Thr1026Ser) c.2503A>T (p.Thr835Ser) c.2428A>T (p.Thr810Ser) c.1105A>T (p.Thr369Ser) | |
3 | g.38894667T>C | CA352174569 | SCN11A | c.2701A>G (p.Thr901Ala) c.2521A>G (p.Thr841Ala) c.2745A>G (n.2745A>G) c.2320A>G (p.Thr774Ala) c.2038A>G (p.Thr680Ala) c.1249A>G (p.Thr417Ala) c.3076A>G (p.Thr1026Ala) c.2503A>G (p.Thr835Ala) c.2428A>G (p.Thr810Ala) c.1105A>G (p.Thr369Ala) | |
3 | g.38894667T>G | CA352174570 | SCN11A | c.2701A>C (p.Thr901Pro) c.2521A>C (p.Thr841Pro) c.2745A>C (n.2745A>C) c.2320A>C (p.Thr774Pro) c.2038A>C (p.Thr680Pro) c.1249A>C (p.Thr417Pro) c.3076A>C (p.Thr1026Pro) c.2503A>C (p.Thr835Pro) c.2428A>C (p.Thr810Pro) c.1105A>C (p.Thr369Pro) | dbSNP gnomAD v4 |
3 | g.38894667T= | CA1358718160 | SCN11A | c.2701A= (p.Thr901=) c.2521A= (p.Thr841=) c.2745A= (n.2745A=) c.2320A= (p.Thr774=) c.2038A= (p.Thr680=) c.1249A= (p.Thr417=) c.3076A= (p.Thr1026=) c.2503A= (p.Thr835=) c.2428A= (p.Thr810=) c.1105A= (p.Thr369=) | |
3 | g.38894668T>A | CA433336049 | SCN11A | c.2700A>T (p.Leu900=) c.2520A>T (p.Leu840=) c.2744A>T (n.2744A>T) c.2319A>T (p.Leu773=) c.2037A>T (p.Leu679=) c.1248A>T (p.Leu416=) c.3075A>T (p.Leu1025=) c.2502A>T (p.Leu834=) c.2427A>T (p.Leu809=) c.1104A>T (p.Leu368=) | |
3 | g.38894668T>C | CA433336050 | SCN11A | c.2700A>G (p.Leu900=) c.2520A>G (p.Leu840=) c.2744A>G (n.2744A>G) c.2319A>G (p.Leu773=) c.2037A>G (p.Leu679=) c.1248A>G (p.Leu416=) c.3075A>G (p.Leu1025=) c.2502A>G (p.Leu834=) c.2427A>G (p.Leu809=) c.1104A>G (p.Leu368=) | |
3 | g.38894668T>G | CA433336051 | SCN11A | c.2700A>C (p.Leu900=) c.2520A>C (p.Leu840=) c.2744A>C (n.2744A>C) c.2319A>C (p.Leu773=) c.2037A>C (p.Leu679=) c.1248A>C (p.Leu416=) c.3075A>C (p.Leu1025=) c.2502A>C (p.Leu834=) c.2427A>C (p.Leu809=) c.1104A>C (p.Leu368=) | |
3 | g.38894669A>C | CA352174571 | SCN11A | c.2699T>G (p.Leu900Arg) c.2519T>G (p.Leu840Arg) c.2743T>G (n.2743T>G) c.2318T>G (p.Leu773Arg) c.2036T>G (p.Leu679Arg) c.1247T>G (p.Leu416Arg) c.3074T>G (p.Leu1025Arg) c.2501T>G (p.Leu834Arg) c.2426T>G (p.Leu809Arg) c.1103T>G (p.Leu368Arg) | |
3 | g.38894669A>G | CA352174573 | SCN11A | c.2699T>C (p.Leu900Pro) c.2519T>C (p.Leu840Pro) c.2743T>C (n.2743T>C) c.2318T>C (p.Leu773Pro) c.2036T>C (p.Leu679Pro) c.1247T>C (p.Leu416Pro) c.3074T>C (p.Leu1025Pro) c.2501T>C (p.Leu834Pro) c.2426T>C (p.Leu809Pro) c.1103T>C (p.Leu368Pro) | gnomAD v4 |
3 | g.38894669A>T | CA352174572 | SCN11A | c.2699T>A (p.Leu900Gln) c.2519T>A (p.Leu840Gln) c.2743T>A (n.2743T>A) c.2318T>A (p.Leu773Gln) c.2036T>A (p.Leu679Gln) c.1247T>A (p.Leu416Gln) c.3074T>A (p.Leu1025Gln) c.2501T>A (p.Leu834Gln) c.2426T>A (p.Leu809Gln) c.1103T>A (p.Leu368Gln) | |
3 | g.38894670G>A | CA433336052 | SCN11A | c.2698C>T (p.Leu900=) c.2518C>T (p.Leu840=) c.2742C>T (n.2742C>T) c.2317C>T (p.Leu773=) c.2035C>T (p.Leu679=) c.1246C>T (p.Leu416=) c.3073C>T (p.Leu1025=) c.2500C>T (p.Leu834=) c.2425C>T (p.Leu809=) c.1102C>T (p.Leu368=) | |
3 | g.38894670G>C | CA352174574 | SCN11A | c.2698C>G (p.Leu900Val) c.2518C>G (p.Leu840Val) c.2742C>G (n.2742C>G) c.2317C>G (p.Leu773Val) c.2035C>G (p.Leu679Val) c.1246C>G (p.Leu416Val) c.3073C>G (p.Leu1025Val) c.2500C>G (p.Leu834Val) c.2425C>G (p.Leu809Val) c.1102C>G (p.Leu368Val) | |
3 | g.38894670G>T | CA352174575 | SCN11A | c.2698C>A (p.Leu900Ile) c.2518C>A (p.Leu840Ile) c.2742C>A (n.2742C>A) c.2317C>A (p.Leu773Ile) c.2035C>A (p.Leu679Ile) c.1246C>A (p.Leu416Ile) c.3073C>A (p.Leu1025Ile) c.2500C>A (p.Leu834Ile) c.2425C>A (p.Leu809Ile) c.1102C>A (p.Leu368Ile) | |
3 | g.38894671T>A | CA433336053 | SCN11A | c.2697A>T (p.Ile899=) c.2517A>T (p.Ile839=) c.2741A>T (n.2741A>T) c.2316A>T (p.Ile772=) c.2034A>T (p.Ile678=) c.1245A>T (p.Ile415=) c.3072A>T (p.Ile1024=) c.2499A>T (p.Ile833=) c.2424A>T (p.Ile808=) c.1101A>T (p.Ile367=) | gnomAD v4 |
3 | g.38894671T>C | CA352174576 | SCN11A | c.2697A>G (p.Ile899Met) c.2517A>G (p.Ile839Met) c.2741A>G (n.2741A>G) c.2316A>G (p.Ile772Met) c.2034A>G (p.Ile678Met) c.1245A>G (p.Ile415Met) c.3072A>G (p.Ile1024Met) c.2499A>G (p.Ile833Met) c.2424A>G (p.Ile808Met) c.1101A>G (p.Ile367Met) | dbSNP |
3 | g.38894671T>G | CA433336054 | SCN11A | c.2697A>C (p.Ile899=) c.2517A>C (p.Ile839=) c.2741A>C (n.2741A>C) c.2316A>C (p.Ile772=) c.2034A>C (p.Ile678=) c.1245A>C (p.Ile415=) c.3072A>C (p.Ile1024=) c.2499A>C (p.Ile833=) c.2424A>C (p.Ile808=) c.1101A>C (p.Ile367=) | |
3 | g.38894671T= | CA1358718161 | SCN11A | c.2697A= (p.Ile899=) c.2517A= (p.Ile839=) c.2741A= (n.2741A=) c.2316A= (p.Ile772=) c.2034A= (p.Ile678=) c.1245A= (p.Ile415=) c.3072A= (p.Ile1024=) c.2499A= (p.Ile833=) c.2424A= (p.Ile808=) c.1101A= (p.Ile367=) | |
3 | g.38894672A>C | CA352174577 | SCN11A | c.2696T>G (p.Ile899Arg) c.2516T>G (p.Ile839Arg) c.2740T>G (n.2740T>G) c.2315T>G (p.Ile772Arg) c.2033T>G (p.Ile678Arg) c.1244T>G (p.Ile415Arg) c.3071T>G (p.Ile1024Arg) c.2498T>G (p.Ile833Arg) c.2423T>G (p.Ile808Arg) c.1100T>G (p.Ile367Arg) | |
3 | g.38894672A>G | CA352174578 | SCN11A | c.2696T>C (p.Ile899Thr) c.2516T>C (p.Ile839Thr) c.2740T>C (n.2740T>C) c.2315T>C (p.Ile772Thr) c.2033T>C (p.Ile678Thr) c.1244T>C (p.Ile415Thr) c.3071T>C (p.Ile1024Thr) c.2498T>C (p.Ile833Thr) c.2423T>C (p.Ile808Thr) c.1100T>C (p.Ile367Thr) | |
3 | g.38894672A>T | CA352174579 | SCN11A | c.2696T>A (p.Ile899Lys) c.2516T>A (p.Ile839Lys) c.2740T>A (n.2740T>A) c.2315T>A (p.Ile772Lys) c.2033T>A (p.Ile678Lys) c.1244T>A (p.Ile415Lys) c.3071T>A (p.Ile1024Lys) c.2498T>A (p.Ile833Lys) c.2423T>A (p.Ile808Lys) c.1100T>A (p.Ile367Lys) | |
3 | g.38894672_38894673delinsAT | CA1358718162 | SCN11A | c.2695_2696delinsAT (p.Ile899=) c.2515_2516delinsAT (p.Ile839=) c.2739_2740delinsAT (n.2739_2740delinsAT) c.2314_2315delinsAT (p.Ile772=) c.2032_2033delinsAT (p.Ile678=) c.1243_1244delinsAT (p.Ile415=) c.3070_3071delinsAT (p.Ile1024=) c.2497_2498delinsAT (p.Ile833=) c.2422_2423delinsAT (p.Ile808=) c.1099_1100delinsAT (p.Ile367=) | |
3 | g.38894673del | CA16617959 | SCN11A | c.2695del (p.Ile899TyrfsTer2) c.2515del (p.Ile839TyrfsTer2) c.2739del (n.2739del) c.2314del (p.Ile772TyrfsTer2) c.2032del (p.Ile678TyrfsTer2) c.1243del (p.Ile415TyrfsTer2) c.3070del (p.Ile1024TyrfsTer2) c.2497del (p.Ile833TyrfsTer2) c.2422del (p.Ile808TyrfsTer2) c.1099del (p.Ile367TyrfsTer2) | ClinVar dbSNP gnomAD v4 |
3 | g.38894673T>A | CA352174580 | SCN11A | c.2695A>T (p.Ile899Leu) c.2515A>T (p.Ile839Leu) c.2739A>T (n.2739A>T) c.2314A>T (p.Ile772Leu) c.2032A>T (p.Ile678Leu) c.1243A>T (p.Ile415Leu) c.3070A>T (p.Ile1024Leu) c.2497A>T (p.Ile833Leu) c.2422A>T (p.Ile808Leu) c.1099A>T (p.Ile367Leu) | |
3 | g.38894673T>C | CA2321989 | SCN11A | c.2695A>G (p.Ile899Val) c.2515A>G (p.Ile839Val) c.2739A>G (n.2739A>G) c.2314A>G (p.Ile772Val) c.2032A>G (p.Ile678Val) c.1243A>G (p.Ile415Val) c.3070A>G (p.Ile1024Val) c.2497A>G (p.Ile833Val) c.2422A>G (p.Ile808Val) c.1099A>G (p.Ile367Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38894673T>G | CA352174581 | SCN11A | c.2695A>C (p.Ile899Leu) c.2515A>C (p.Ile839Leu) c.2739A>C (n.2739A>C) c.2314A>C (p.Ile772Leu) c.2032A>C (p.Ile678Leu) c.1243A>C (p.Ile415Leu) c.3070A>C (p.Ile1024Leu) c.2497A>C (p.Ile833Leu) c.2422A>C (p.Ile808Leu) c.1099A>C (p.Ile367Leu) | |
3 | g.38894673T= | CA1358718163 | SCN11A | c.2695A= (p.Ile899=) c.2515A= (p.Ile839=) c.2739A= (n.2739A=) c.2314A= (p.Ile772=) c.2032A= (p.Ile678=) c.1243A= (p.Ile415=) c.3070A= (p.Ile1024=) c.2497A= (p.Ile833=) c.2422A= (p.Ile808=) c.1099A= (p.Ile367=) | |
3 | g.38894674A>C | CA433336055 | SCN11A | c.2694T>G (p.Gly898=) c.2514T>G (p.Gly838=) c.2738T>G (n.2738T>G) c.2313T>G (p.Gly771=) c.2031T>G (p.Gly677=) c.1242T>G (p.Gly414=) c.3069T>G (p.Gly1023=) c.2496T>G (p.Gly832=) c.2421T>G (p.Gly807=) c.1098T>G (p.Gly366=) | |
3 | g.38894674A>G | CA433336056 | SCN11A | c.2694T>C (p.Gly898=) c.2514T>C (p.Gly838=) c.2738T>C (n.2738T>C) c.2313T>C (p.Gly771=) c.2031T>C (p.Gly677=) c.1242T>C (p.Gly414=) c.3069T>C (p.Gly1023=) c.2496T>C (p.Gly832=) c.2421T>C (p.Gly807=) c.1098T>C (p.Gly366=) | |
3 | g.38894674A>T | CA433336057 | SCN11A | c.2694T>A (p.Gly898=) c.2514T>A (p.Gly838=) c.2738T>A (n.2738T>A) c.2313T>A (p.Gly771=) c.2031T>A (p.Gly677=) c.1242T>A (p.Gly414=) c.3069T>A (p.Gly1023=) c.2496T>A (p.Gly832=) c.2421T>A (p.Gly807=) c.1098T>A (p.Gly366=) | |
3 | g.38894675C>A | CA352174582 | SCN11A | c.2693G>T (p.Gly898Val) c.2513G>T (p.Gly838Val) c.2737G>T (n.2737G>T) c.2312G>T (p.Gly771Val) c.2030G>T (p.Gly677Val) c.1241G>T (p.Gly414Val) c.3068G>T (p.Gly1023Val) c.2495G>T (p.Gly832Val) c.2420G>T (p.Gly807Val) c.1097G>T (p.Gly366Val) | |
3 | g.38894675C= | CA1358718164 | SCN11A | c.2693G= (p.Gly898=) c.2513G= (p.Gly838=) c.2737G= (n.2737G=) c.2312G= (p.Gly771=) c.2030G= (p.Gly677=) c.1241G= (p.Gly414=) c.3068G= (p.Gly1023=) c.2495G= (p.Gly832=) c.2420G= (p.Gly807=) c.1097G= (p.Gly366=) | |
3 | g.38894675C>G | CA352174583 | SCN11A | c.2693G>C (p.Gly898Ala) c.2513G>C (p.Gly838Ala) c.2737G>C (n.2737G>C) c.2312G>C (p.Gly771Ala) c.2030G>C (p.Gly677Ala) c.1241G>C (p.Gly414Ala) c.3068G>C (p.Gly1023Ala) c.2495G>C (p.Gly832Ala) c.2420G>C (p.Gly807Ala) c.1097G>C (p.Gly366Ala) | |
3 | g.38894675C>T | CA352174584 | SCN11A | c.2693G>A (p.Gly898Asp) c.2513G>A (p.Gly838Asp) c.2737G>A (n.2737G>A) c.2312G>A (p.Gly771Asp) c.2030G>A (p.Gly677Asp) c.1241G>A (p.Gly414Asp) c.3068G>A (p.Gly1023Asp) c.2495G>A (p.Gly832Asp) c.2420G>A (p.Gly807Asp) c.1097G>A (p.Gly366Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38894676C>A | CA352174585 | SCN11A | c.2692G>T (p.Gly898Cys) c.2512G>T (p.Gly838Cys) c.2736G>T (n.2736G>T) c.2311G>T (p.Gly771Cys) c.2029G>T (p.Gly677Cys) c.1240G>T (p.Gly414Cys) c.3067G>T (p.Gly1023Cys) c.2494G>T (p.Gly832Cys) c.2419G>T (p.Gly807Cys) c.1096G>T (p.Gly366Cys) | |
3 | g.38894676C>G | CA352174587 | SCN11A | c.2692G>C (p.Gly898Arg) c.2512G>C (p.Gly838Arg) c.2736G>C (n.2736G>C) c.2311G>C (p.Gly771Arg) c.2029G>C (p.Gly677Arg) c.1240G>C (p.Gly414Arg) c.3067G>C (p.Gly1023Arg) c.2494G>C (p.Gly832Arg) c.2419G>C (p.Gly807Arg) c.1096G>C (p.Gly366Arg) | |
3 | g.38894676C>T | CA352174586 | SCN11A | c.2692G>A (p.Gly898Ser) c.2512G>A (p.Gly838Ser) c.2736G>A (n.2736G>A) c.2311G>A (p.Gly771Ser) c.2029G>A (p.Gly677Ser) c.1240G>A (p.Gly414Ser) c.3067G>A (p.Gly1023Ser) c.2494G>A (p.Gly832Ser) c.2419G>A (p.Gly807Ser) c.1096G>A (p.Gly366Ser) | |
3 | g.38894677A>C | CA433336060 | SCN11A | c.2691T>G (p.Leu897=) c.2511T>G (p.Leu837=) c.2735T>G (n.2735T>G) c.2310T>G (p.Leu770=) c.2028T>G (p.Leu676=) c.1239T>G (p.Leu413=) c.3066T>G (p.Leu1022=) c.2493T>G (p.Leu831=) c.2418T>G (p.Leu806=) c.1095T>G (p.Leu365=) | |
3 | g.38894677A>G | CA433336059 | SCN11A | c.2691T>C (p.Leu897=) c.2511T>C (p.Leu837=) c.2735T>C (n.2735T>C) c.2310T>C (p.Leu770=) c.2028T>C (p.Leu676=) c.1239T>C (p.Leu413=) c.3066T>C (p.Leu1022=) c.2493T>C (p.Leu831=) c.2418T>C (p.Leu806=) c.1095T>C (p.Leu365=) | |
3 | g.38894677A>T | CA433336058 | SCN11A | c.2691T>A (p.Leu897=) c.2511T>A (p.Leu837=) c.2735T>A (n.2735T>A) c.2310T>A (p.Leu770=) c.2028T>A (p.Leu676=) c.1239T>A (p.Leu413=) c.3066T>A (p.Leu1022=) c.2493T>A (p.Leu831=) c.2418T>A (p.Leu806=) c.1095T>A (p.Leu365=) | |
3 | g.38894678A= | CA1358718165 | SCN11A | c.2690T= (p.Leu897=) c.2510T= (p.Leu837=) c.2734T= (n.2734T=) c.2309T= (p.Leu770=) c.2027T= (p.Leu676=) c.1238T= (p.Leu413=) c.3065T= (p.Leu1022=) c.2492T= (p.Leu831=) c.2417T= (p.Leu806=) c.1094T= (p.Leu365=) | |
3 | g.38894678A>C | CA2321990 | SCN11A | c.2690T>G (p.Leu897Arg) c.2510T>G (p.Leu837Arg) c.2734T>G (n.2734T>G) c.2309T>G (p.Leu770Arg) c.2027T>G (p.Leu676Arg) c.1238T>G (p.Leu413Arg) c.3065T>G (p.Leu1022Arg) c.2492T>G (p.Leu831Arg) c.2417T>G (p.Leu806Arg) c.1094T>G (p.Leu365Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38894678A>G | CA352174588 | SCN11A | c.2690T>C (p.Leu897Pro) c.2510T>C (p.Leu837Pro) c.2734T>C (n.2734T>C) c.2309T>C (p.Leu770Pro) c.2027T>C (p.Leu676Pro) c.1238T>C (p.Leu413Pro) c.3065T>C (p.Leu1022Pro) c.2492T>C (p.Leu831Pro) c.2417T>C (p.Leu806Pro) c.1094T>C (p.Leu365Pro) | |
3 | g.38894678A>T | CA352174589 | SCN11A | c.2690T>A (p.Leu897His) c.2510T>A (p.Leu837His) c.2734T>A (n.2734T>A) c.2309T>A (p.Leu770His) c.2027T>A (p.Leu676His) c.1238T>A (p.Leu413His) c.3065T>A (p.Leu1022His) c.2492T>A (p.Leu831His) c.2417T>A (p.Leu806His) c.1094T>A (p.Leu365His) | |
3 | g.38894679G>A | CA352174590 | SCN11A | c.2689C>T (p.Leu897Phe) c.2509C>T (p.Leu837Phe) c.2733C>T (n.2733C>T) c.2308C>T (p.Leu770Phe) c.2026C>T (p.Leu676Phe) c.1237C>T (p.Leu413Phe) c.3064C>T (p.Leu1022Phe) c.2491C>T (p.Leu831Phe) c.2416C>T (p.Leu806Phe) c.1093C>T (p.Leu365Phe) | gnomAD v4 |
3 | g.38894679G>C | CA352174591 | SCN11A | c.2689C>G (p.Leu897Val) c.2509C>G (p.Leu837Val) c.2733C>G (n.2733C>G) c.2308C>G (p.Leu770Val) c.2026C>G (p.Leu676Val) c.1237C>G (p.Leu413Val) c.3064C>G (p.Leu1022Val) c.2491C>G (p.Leu831Val) c.2416C>G (p.Leu806Val) c.1093C>G (p.Leu365Val) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38894679G= | CA1358718166 | SCN11A | c.2689C= (p.Leu897=) c.2509C= (p.Leu837=) c.2733C= (n.2733C=) c.2308C= (p.Leu770=) c.2026C= (p.Leu676=) c.1237C= (p.Leu413=) c.3064C= (p.Leu1022=) c.2491C= (p.Leu831=) c.2416C= (p.Leu806=) c.1093C= (p.Leu365=) | |
3 | g.38894679G>T | CA352174592 | SCN11A | c.2689C>A (p.Leu897Ile) c.2509C>A (p.Leu837Ile) c.2733C>A (n.2733C>A) c.2308C>A (p.Leu770Ile) c.2026C>A (p.Leu676Ile) c.1237C>A (p.Leu413Ile) c.3064C>A (p.Leu1022Ile) c.2491C>A (p.Leu831Ile) c.2416C>A (p.Leu806Ile) c.1093C>A (p.Leu365Ile) | |
3 | g.38894680C>A | CA2321991 | SCN11A | c.2688G>T (p.Glu896Asp) c.2508G>T (p.Glu836Asp) c.2732G>T (n.2732G>T) c.2307G>T (p.Glu769Asp) c.2025G>T (p.Glu675Asp) c.1236G>T (p.Glu412Asp) c.3063G>T (p.Glu1021Asp) c.2490G>T (p.Glu830Asp) c.2415G>T (p.Glu805Asp) c.1092G>T (p.Glu364Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894680C= | CA1358718167 | SCN11A | c.2688G= (p.Glu896=) c.2508G= (p.Glu836=) c.2732G= (n.2732G=) c.2307G= (p.Glu769=) c.2025G= (p.Glu675=) c.1236G= (p.Glu412=) c.3063G= (p.Glu1021=) c.2490G= (p.Glu830=) c.2415G= (p.Glu805=) c.1092G= (p.Glu364=) | |
3 | g.38894680C>G | CA352174593 | SCN11A | c.2688G>C (p.Glu896Asp) c.2508G>C (p.Glu836Asp) c.2732G>C (n.2732G>C) c.2307G>C (p.Glu769Asp) c.2025G>C (p.Glu675Asp) c.1236G>C (p.Glu412Asp) c.3063G>C (p.Glu1021Asp) c.2490G>C (p.Glu830Asp) c.2415G>C (p.Glu805Asp) c.1092G>C (p.Glu364Asp) | |
3 | g.38894680C>T | CA433336061 | SCN11A | c.2688G>A (p.Glu896=) c.2508G>A (p.Glu836=) c.2732G>A (n.2732G>A) c.2307G>A (p.Glu769=) c.2025G>A (p.Glu675=) c.1236G>A (p.Glu412=) c.3063G>A (p.Glu1021=) c.2490G>A (p.Glu830=) c.2415G>A (p.Glu805=) c.1092G>A (p.Glu364=) | |
3 | g.38894681T>A | CA352174594 | SCN11A | c.2687A>T (p.Glu896Val) c.2507A>T (p.Glu836Val) c.2731A>T (n.2731A>T) c.2306A>T (p.Glu769Val) c.2024A>T (p.Glu675Val) c.1235A>T (p.Glu412Val) c.3062A>T (p.Glu1021Val) c.2489A>T (p.Glu830Val) c.2414A>T (p.Glu805Val) c.1091A>T (p.Glu364Val) | |
3 | g.38894681T>C | CA352174595 | SCN11A | c.2687A>G (p.Glu896Gly) c.2507A>G (p.Glu836Gly) c.2731A>G (n.2731A>G) c.2306A>G (p.Glu769Gly) c.2024A>G (p.Glu675Gly) c.1235A>G (p.Glu412Gly) c.3062A>G (p.Glu1021Gly) c.2489A>G (p.Glu830Gly) c.2414A>G (p.Glu805Gly) c.1091A>G (p.Glu364Gly) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38894681T>G | CA352174596 | SCN11A | c.2687A>C (p.Glu896Ala) c.2507A>C (p.Glu836Ala) c.2731A>C (n.2731A>C) c.2306A>C (p.Glu769Ala) c.2024A>C (p.Glu675Ala) c.1235A>C (p.Glu412Ala) c.3062A>C (p.Glu1021Ala) c.2489A>C (p.Glu830Ala) c.2414A>C (p.Glu805Ala) c.1091A>C (p.Glu364Ala) | |
3 | g.38894681T= | CA1358718168 | SCN11A | c.2687A= (p.Glu896=) c.2507A= (p.Glu836=) c.2731A= (n.2731A=) c.2306A= (p.Glu769=) c.2024A= (p.Glu675=) c.1235A= (p.Glu412=) c.3062A= (p.Glu1021=) c.2489A= (p.Glu830=) c.2414A= (p.Glu805=) c.1091A= (p.Glu364=) | |
3 | g.38894682C>A | CA352174597 | SCN11A | c.2686G>T (p.Glu896Ter) c.2506G>T (p.Glu836Ter) c.2730G>T (n.2730G>T) c.2305G>T (p.Glu769Ter) c.2023G>T (p.Glu675Ter) c.1234G>T (p.Glu412Ter) c.3061G>T (p.Glu1021Ter) c.2488G>T (p.Glu830Ter) c.2413G>T (p.Glu805Ter) c.1090G>T (p.Glu364Ter) | dbSNP COSMIC |
3 | g.38894682C= | CA1358718169 | SCN11A | c.2686G= (p.Glu896=) c.2506G= (p.Glu836=) c.2730G= (n.2730G=) c.2305G= (p.Glu769=) c.2023G= (p.Glu675=) c.1234G= (p.Glu412=) c.3061G= (p.Glu1021=) c.2488G= (p.Glu830=) c.2413G= (p.Glu805=) c.1090G= (p.Glu364=) | |
3 | g.38894682C>G | CA352174598 | SCN11A | c.2686G>C (p.Glu896Gln) c.2506G>C (p.Glu836Gln) c.2730G>C (n.2730G>C) c.2305G>C (p.Glu769Gln) c.2023G>C (p.Glu675Gln) c.1234G>C (p.Glu412Gln) c.3061G>C (p.Glu1021Gln) c.2488G>C (p.Glu830Gln) c.2413G>C (p.Glu805Gln) c.1090G>C (p.Glu364Gln) | |
3 | g.38894682C>T | CA352174599 | SCN11A | c.2686G>A (p.Glu896Lys) c.2506G>A (p.Glu836Lys) c.2730G>A (n.2730G>A) c.2305G>A (p.Glu769Lys) c.2023G>A (p.Glu675Lys) c.1234G>A (p.Glu412Lys) c.3061G>A (p.Glu1021Lys) c.2488G>A (p.Glu830Lys) c.2413G>A (p.Glu805Lys) c.1090G>A (p.Glu364Lys) | COSMIC |
3 | g.38894683C>A | CA352174600 | SCN11A | c.2685G>T (p.Glu895Asp) c.2505G>T (p.Glu835Asp) c.2729G>T (n.2729G>T) c.2304G>T (p.Glu768Asp) c.2022G>T (p.Glu674Asp) c.1233G>T (p.Glu411Asp) c.3060G>T (p.Glu1020Asp) c.2487G>T (p.Glu829Asp) c.2412G>T (p.Glu804Asp) c.1089G>T (p.Glu363Asp) | |
3 | g.38894683C= | CA1358718170 | SCN11A | c.2685G= (p.Glu895=) c.2505G= (p.Glu835=) c.2729G= (n.2729G=) c.2304G= (p.Glu768=) c.2022G= (p.Glu674=) c.1233G= (p.Glu411=) c.3060G= (p.Glu1020=) c.2487G= (p.Glu829=) c.2412G= (p.Glu804=) c.1089G= (p.Glu363=) | |
3 | g.38894683C>G | CA352174601 | SCN11A | c.2685G>C (p.Glu895Asp) c.2505G>C (p.Glu835Asp) c.2729G>C (n.2729G>C) c.2304G>C (p.Glu768Asp) c.2022G>C (p.Glu674Asp) c.1233G>C (p.Glu411Asp) c.3060G>C (p.Glu1020Asp) c.2487G>C (p.Glu829Asp) c.2412G>C (p.Glu804Asp) c.1089G>C (p.Glu363Asp) | |
3 | g.38894683C>T | CA433336062 | SCN11A | c.2685G>A (p.Glu895=) c.2505G>A (p.Glu835=) c.2729G>A (n.2729G>A) c.2304G>A (p.Glu768=) c.2022G>A (p.Glu674=) c.1233G>A (p.Glu411=) c.3060G>A (p.Glu1020=) c.2487G>A (p.Glu829=) c.2412G>A (p.Glu804=) c.1089G>A (p.Glu363=) | |
3 | g.38894684T>A | CA352174602 | SCN11A | c.2684A>T (p.Glu895Val) c.2504A>T (p.Glu835Val) c.2728A>T (n.2728A>T) c.2303A>T (p.Glu768Val) c.2021A>T (p.Glu674Val) c.1232A>T (p.Glu411Val) c.3059A>T (p.Glu1020Val) c.2486A>T (p.Glu829Val) c.2411A>T (p.Glu804Val) c.1088A>T (p.Glu363Val) | |
3 | g.38894684T>C | CA352174603 | SCN11A | c.2684A>G (p.Glu895Gly) c.2504A>G (p.Glu835Gly) c.2728A>G (n.2728A>G) c.2303A>G (p.Glu768Gly) c.2021A>G (p.Glu674Gly) c.1232A>G (p.Glu411Gly) c.3059A>G (p.Glu1020Gly) c.2486A>G (p.Glu829Gly) c.2411A>G (p.Glu804Gly) c.1088A>G (p.Glu363Gly) | |
3 | g.38894684T>G | CA352174604 | SCN11A | c.2684A>C (p.Glu895Ala) c.2504A>C (p.Glu835Ala) c.2728A>C (n.2728A>C) c.2303A>C (p.Glu768Ala) c.2021A>C (p.Glu674Ala) c.1232A>C (p.Glu411Ala) c.3059A>C (p.Glu1020Ala) c.2486A>C (p.Glu829Ala) c.2411A>C (p.Glu804Ala) c.1088A>C (p.Glu363Ala) | |
3 | g.38894684dup | CA906910035 | SCN11A | c.2684dup (p.Glu896GlyfsTer17) c.2504dup (p.Glu836GlyfsTer17) c.2728dup (n.2728dup) c.2303dup (p.Glu769GlyfsTer17) c.2021dup (p.Glu675GlyfsTer17) c.1232dup (p.Glu412GlyfsTer17) c.3059dup (p.Glu1021GlyfsTer17) c.2486dup (p.Glu830GlyfsTer17) c.2411dup (p.Glu805GlyfsTer17) c.1088dup (p.Glu364GlyfsTer17) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38894685C>A | CA352174605 | SCN11A | c.2683G>T (p.Glu895Ter) c.2503G>T (p.Glu835Ter) c.2727G>T (n.2727G>T) c.2302G>T (p.Glu768Ter) c.2020G>T (p.Glu674Ter) c.1231G>T (p.Glu411Ter) c.3058G>T (p.Glu1020Ter) c.2485G>T (p.Glu829Ter) c.2410G>T (p.Glu804Ter) c.1087G>T (p.Glu363Ter) | dbSNP |
3 | g.38894685C= | CA1358718171 | SCN11A | c.2683G= (p.Glu895=) c.2503G= (p.Glu835=) c.2727G= (n.2727G=) c.2302G= (p.Glu768=) c.2020G= (p.Glu674=) c.1231G= (p.Glu411=) c.3058G= (p.Glu1020=) c.2485G= (p.Glu829=) c.2410G= (p.Glu804=) c.1087G= (p.Glu363=) | |
3 | g.38894685C>G | CA352174606 | SCN11A | c.2683G>C (p.Glu895Gln) c.2503G>C (p.Glu835Gln) c.2727G>C (n.2727G>C) c.2302G>C (p.Glu768Gln) c.2020G>C (p.Glu674Gln) c.1231G>C (p.Glu411Gln) c.3058G>C (p.Glu1020Gln) c.2485G>C (p.Glu829Gln) c.2410G>C (p.Glu804Gln) c.1087G>C (p.Glu363Gln) | |
3 | g.38894685C>T | CA352174607 | SCN11A | c.2683G>A (p.Glu895Lys) c.2503G>A (p.Glu835Lys) c.2727G>A (n.2727G>A) c.2302G>A (p.Glu768Lys) c.2020G>A (p.Glu674Lys) c.1231G>A (p.Glu411Lys) c.3058G>A (p.Glu1020Lys) c.2485G>A (p.Glu829Lys) c.2410G>A (p.Glu804Lys) c.1087G>A (p.Glu363Lys) | gnomAD v4 |
3 | g.38894686C>A | CA352174608 | SCN11A | c.2682G>T (p.Gln894His) c.2502G>T (p.Gln834His) c.2726G>T (n.2726G>T) c.2301G>T (p.Gln767His) c.2019G>T (p.Gln673His) c.1230G>T (p.Gln410His) c.3057G>T (p.Gln1019His) c.2484G>T (p.Gln828His) c.2409G>T (p.Gln803His) c.1086G>T (p.Gln362His) | |
3 | g.38894686C>G | CA352174609 | SCN11A | c.2682G>C (p.Gln894His) c.2502G>C (p.Gln834His) c.2726G>C (n.2726G>C) c.2301G>C (p.Gln767His) c.2019G>C (p.Gln673His) c.1230G>C (p.Gln410His) c.3057G>C (p.Gln1019His) c.2484G>C (p.Gln828His) c.2409G>C (p.Gln803His) c.1086G>C (p.Gln362His) | |
3 | g.38894686C>T | CA433336063 | SCN11A | c.2682G>A (p.Gln894=) c.2502G>A (p.Gln834=) c.2726G>A (n.2726G>A) c.2301G>A (p.Gln767=) c.2019G>A (p.Gln673=) c.1230G>A (p.Gln410=) c.3057G>A (p.Gln1019=) c.2484G>A (p.Gln828=) c.2409G>A (p.Gln803=) c.1086G>A (p.Gln362=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38894687T>A | CA352174610 | SCN11A | c.2681A>T (p.Gln894Leu) c.2501A>T (p.Gln834Leu) c.2725A>T (n.2725A>T) c.2300A>T (p.Gln767Leu) c.2018A>T (p.Gln673Leu) c.1229A>T (p.Gln410Leu) c.3056A>T (p.Gln1019Leu) c.2483A>T (p.Gln828Leu) c.2408A>T (p.Gln803Leu) c.1085A>T (p.Gln362Leu) | |
3 | g.38894687T>C | CA352174611 | SCN11A | c.2681A>G (p.Gln894Arg) c.2501A>G (p.Gln834Arg) c.2725A>G (n.2725A>G) c.2300A>G (p.Gln767Arg) c.2018A>G (p.Gln673Arg) c.1229A>G (p.Gln410Arg) c.3056A>G (p.Gln1019Arg) c.2483A>G (p.Gln828Arg) c.2408A>G (p.Gln803Arg) c.1085A>G (p.Gln362Arg) | |
3 | g.38894687T>G | CA352174612 | SCN11A | c.2681A>C (p.Gln894Pro) c.2501A>C (p.Gln834Pro) c.2725A>C (n.2725A>C) c.2300A>C (p.Gln767Pro) c.2018A>C (p.Gln673Pro) c.1229A>C (p.Gln410Pro) c.3056A>C (p.Gln1019Pro) c.2483A>C (p.Gln828Pro) c.2408A>C (p.Gln803Pro) c.1085A>C (p.Gln362Pro) | |
3 | g.38894688G>A | CA352174613 | SCN11A | c.2680C>T (p.Gln894Ter) c.2500C>T (p.Gln834Ter) c.2724C>T (n.2724C>T) c.2299C>T (p.Gln767Ter) c.2017C>T (p.Gln673Ter) c.1228C>T (p.Gln410Ter) c.3055C>T (p.Gln1019Ter) c.2482C>T (p.Gln828Ter) c.2407C>T (p.Gln803Ter) c.1084C>T (p.Gln362Ter) | gnomAD v4 |
3 | g.38894688G>C | CA352174615 | SCN11A | c.2680C>G (p.Gln894Glu) c.2500C>G (p.Gln834Glu) c.2724C>G (n.2724C>G) c.2299C>G (p.Gln767Glu) c.2017C>G (p.Gln673Glu) c.1228C>G (p.Gln410Glu) c.3055C>G (p.Gln1019Glu) c.2482C>G (p.Gln828Glu) c.2407C>G (p.Gln803Glu) c.1084C>G (p.Gln362Glu) | |
3 | g.38894688G>T | CA352174614 | SCN11A | c.2680C>A (p.Gln894Lys) c.2500C>A (p.Gln834Lys) c.2724C>A (n.2724C>A) c.2299C>A (p.Gln767Lys) c.2017C>A (p.Gln673Lys) c.1228C>A (p.Gln410Lys) c.3055C>A (p.Gln1019Lys) c.2482C>A (p.Gln828Lys) c.2407C>A (p.Gln803Lys) c.1084C>A (p.Gln362Lys) | |
3 | g.38894689G>A | CA433336064 | SCN11A | c.2679C>T (p.Thr893=) c.2499C>T (p.Thr833=) c.2723C>T (n.2723C>T) c.2298C>T (p.Thr766=) c.2016C>T (p.Thr672=) c.1227C>T (p.Thr409=) c.3054C>T (p.Thr1018=) c.2481C>T (p.Thr827=) c.2406C>T (p.Thr802=) c.1083C>T (p.Thr361=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38894689G>C | CA433336065 | SCN11A | c.2679C>G (p.Thr893=) c.2499C>G (p.Thr833=) c.2723C>G (n.2723C>G) c.2298C>G (p.Thr766=) c.2016C>G (p.Thr672=) c.1227C>G (p.Thr409=) c.3054C>G (p.Thr1018=) c.2481C>G (p.Thr827=) c.2406C>G (p.Thr802=) c.1083C>G (p.Thr361=) | |
3 | g.38894689G= | CA1358718172 | SCN11A | c.2679C= (p.Thr893=) c.2499C= (p.Thr833=) c.2723C= (n.2723C=) c.2298C= (p.Thr766=) c.2016C= (p.Thr672=) c.1227C= (p.Thr409=) c.3054C= (p.Thr1018=) c.2481C= (p.Thr827=) c.2406C= (p.Thr802=) c.1083C= (p.Thr361=) | |
3 | g.38894689G>T | CA433336066 | SCN11A | c.2679C>A (p.Thr893=) c.2499C>A (p.Thr833=) c.2723C>A (n.2723C>A) c.2298C>A (p.Thr766=) c.2016C>A (p.Thr672=) c.1227C>A (p.Thr409=) c.3054C>A (p.Thr1018=) c.2481C>A (p.Thr827=) c.2406C>A (p.Thr802=) c.1083C>A (p.Thr361=) | |
3 | g.38894690G>A | CA352174616 | SCN11A | c.2678C>T (p.Thr893Ile) c.2498C>T (p.Thr833Ile) c.2722C>T (n.2722C>T) c.2297C>T (p.Thr766Ile) c.2015C>T (p.Thr672Ile) c.1226C>T (p.Thr409Ile) c.3053C>T (p.Thr1018Ile) c.2480C>T (p.Thr827Ile) c.2405C>T (p.Thr802Ile) c.1082C>T (p.Thr361Ile) | |
3 | g.38894690G>C | CA352174618 | SCN11A | c.2678C>G (p.Thr893Ser) c.2498C>G (p.Thr833Ser) c.2722C>G (n.2722C>G) c.2297C>G (p.Thr766Ser) c.2015C>G (p.Thr672Ser) c.1226C>G (p.Thr409Ser) c.3053C>G (p.Thr1018Ser) c.2480C>G (p.Thr827Ser) c.2405C>G (p.Thr802Ser) c.1082C>G (p.Thr361Ser) | |
3 | g.38894690G>T | CA352174617 | SCN11A | c.2678C>A (p.Thr893Asn) c.2498C>A (p.Thr833Asn) c.2722C>A (n.2722C>A) c.2297C>A (p.Thr766Asn) c.2015C>A (p.Thr672Asn) c.1226C>A (p.Thr409Asn) c.3053C>A (p.Thr1018Asn) c.2480C>A (p.Thr827Asn) c.2405C>A (p.Thr802Asn) c.1082C>A (p.Thr361Asn) | |
3 | g.38894691T>A | CA352174619 | SCN11A | c.2677A>T (p.Thr893Ser) c.2497A>T (p.Thr833Ser) c.2721A>T (n.2721A>T) c.2296A>T (p.Thr766Ser) c.2014A>T (p.Thr672Ser) c.1225A>T (p.Thr409Ser) c.3052A>T (p.Thr1018Ser) c.2479A>T (p.Thr827Ser) c.2404A>T (p.Thr802Ser) c.1081A>T (p.Thr361Ser) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38894691T>C | CA352174620 | SCN11A | c.2677A>G (p.Thr893Ala) c.2497A>G (p.Thr833Ala) c.2721A>G (n.2721A>G) c.2296A>G (p.Thr766Ala) c.2014A>G (p.Thr672Ala) c.1225A>G (p.Thr409Ala) c.3052A>G (p.Thr1018Ala) c.2479A>G (p.Thr827Ala) c.2404A>G (p.Thr802Ala) c.1081A>G (p.Thr361Ala) | |
3 | g.38894691T>G | CA352174621 | SCN11A | c.2677A>C (p.Thr893Pro) c.2497A>C (p.Thr833Pro) c.2721A>C (n.2721A>C) c.2296A>C (p.Thr766Pro) c.2014A>C (p.Thr672Pro) c.1225A>C (p.Thr409Pro) c.3052A>C (p.Thr1018Pro) c.2479A>C (p.Thr827Pro) c.2404A>C (p.Thr802Pro) c.1081A>C (p.Thr361Pro) | |
3 | g.38894691T= | CA1358718173 | SCN11A | c.2677A= (p.Thr893=) c.2497A= (p.Thr833=) c.2721A= (n.2721A=) c.2296A= (p.Thr766=) c.2014A= (p.Thr672=) c.1225A= (p.Thr409=) c.3052A= (p.Thr1018=) c.2479A= (p.Thr827=) c.2404A= (p.Thr802=) c.1081A= (p.Thr361=) | |
3 | g.38894692C>A | CA352174622 | SCN11A | c.2676G>T (p.Glu892Asp) c.2496G>T (p.Glu832Asp) c.2720G>T (n.2720G>T) c.2295G>T (p.Glu765Asp) c.2013G>T (p.Glu671Asp) c.1224G>T (p.Glu408Asp) c.3051G>T (p.Glu1017Asp) c.2478G>T (p.Glu826Asp) c.2403G>T (p.Glu801Asp) c.1080G>T (p.Glu360Asp) | |
3 | g.38894692C>G | CA352174623 | SCN11A | c.2676G>C (p.Glu892Asp) c.2496G>C (p.Glu832Asp) c.2720G>C (n.2720G>C) c.2295G>C (p.Glu765Asp) c.2013G>C (p.Glu671Asp) c.1224G>C (p.Glu408Asp) c.3051G>C (p.Glu1017Asp) c.2478G>C (p.Glu826Asp) c.2403G>C (p.Glu801Asp) c.1080G>C (p.Glu360Asp) | |
3 | g.38894692C>T | CA433336069 | SCN11A | c.2676G>A (p.Glu892=) c.2496G>A (p.Glu832=) c.2720G>A (n.2720G>A) c.2295G>A (p.Glu765=) c.2013G>A (p.Glu671=) c.1224G>A (p.Glu408=) c.3051G>A (p.Glu1017=) c.2478G>A (p.Glu826=) c.2403G>A (p.Glu801=) c.1080G>A (p.Glu360=) | |
3 | g.38894693T>A | CA352174624 | SCN11A | c.2675A>T (p.Glu892Val) c.2495A>T (p.Glu832Val) c.2719A>T (n.2719A>T) c.2294A>T (p.Glu765Val) c.2012A>T (p.Glu671Val) c.1223A>T (p.Glu408Val) c.3050A>T (p.Glu1017Val) c.2477A>T (p.Glu826Val) c.2402A>T (p.Glu801Val) c.1079A>T (p.Glu360Val) | |
3 | g.38894693T>C | CA352174625 | SCN11A | c.2675A>G (p.Glu892Gly) c.2495A>G (p.Glu832Gly) c.2719A>G (n.2719A>G) c.2294A>G (p.Glu765Gly) c.2012A>G (p.Glu671Gly) c.1223A>G (p.Glu408Gly) c.3050A>G (p.Glu1017Gly) c.2477A>G (p.Glu826Gly) c.2402A>G (p.Glu801Gly) c.1079A>G (p.Glu360Gly) | |
3 | g.38894693T>G | CA352174626 | SCN11A | c.2675A>C (p.Glu892Ala) c.2495A>C (p.Glu832Ala) c.2719A>C (n.2719A>C) c.2294A>C (p.Glu765Ala) c.2012A>C (p.Glu671Ala) c.1223A>C (p.Glu408Ala) c.3050A>C (p.Glu1017Ala) c.2477A>C (p.Glu826Ala) c.2402A>C (p.Glu801Ala) c.1079A>C (p.Glu360Ala) | |
3 | g.38894694C>A | CA352174627 | SCN11A | c.2674G>T (p.Glu892Ter) c.2494G>T (p.Glu832Ter) c.2718G>T (n.2718G>T) c.2293G>T (p.Glu765Ter) c.2011G>T (p.Glu671Ter) c.1222G>T (p.Glu408Ter) c.3049G>T (p.Glu1017Ter) c.2476G>T (p.Glu826Ter) c.2401G>T (p.Glu801Ter) c.1078G>T (p.Glu360Ter) | dbSNP |
3 | g.38894694C= | CA1358718174 | SCN11A | c.2674G= (p.Glu892=) c.2494G= (p.Glu832=) c.2718G= (n.2718G=) c.2293G= (p.Glu765=) c.2011G= (p.Glu671=) c.1222G= (p.Glu408=) c.3049G= (p.Glu1017=) c.2476G= (p.Glu826=) c.2401G= (p.Glu801=) c.1078G= (p.Glu360=) | |
3 | g.38894694C>G | CA352174628 | SCN11A | c.2674G>C (p.Glu892Gln) c.2494G>C (p.Glu832Gln) c.2718G>C (n.2718G>C) c.2293G>C (p.Glu765Gln) c.2011G>C (p.Glu671Gln) c.1222G>C (p.Glu408Gln) c.3049G>C (p.Glu1017Gln) c.2476G>C (p.Glu826Gln) c.2401G>C (p.Glu801Gln) c.1078G>C (p.Glu360Gln) | |
3 | g.38894694C>T | CA352174629 | SCN11A | c.2674G>A (p.Glu892Lys) c.2494G>A (p.Glu832Lys) c.2718G>A (n.2718G>A) c.2293G>A (p.Glu765Lys) c.2011G>A (p.Glu671Lys) c.1222G>A (p.Glu408Lys) c.3049G>A (p.Glu1017Lys) c.2476G>A (p.Glu826Lys) c.2401G>A (p.Glu801Lys) c.1078G>A (p.Glu360Lys) | |
3 | g.38894695T>A | CA433336072 | SCN11A | c.2673A>T (p.Ser891=) c.2493A>T (p.Ser831=) c.2717A>T (n.2717A>T) c.2292A>T (p.Ser764=) c.2010A>T (p.Ser670=) c.1221A>T (p.Ser407=) c.3048A>T (p.Ser1016=) c.2475A>T (p.Ser825=) c.2400A>T (p.Ser800=) c.1077A>T (p.Ser359=) | |
3 | g.38894695T>C | CA433336073 | SCN11A | c.2673A>G (p.Ser891=) c.2493A>G (p.Ser831=) c.2717A>G (n.2717A>G) c.2292A>G (p.Ser764=) c.2010A>G (p.Ser670=) c.1221A>G (p.Ser407=) c.3048A>G (p.Ser1016=) c.2475A>G (p.Ser825=) c.2400A>G (p.Ser800=) c.1077A>G (p.Ser359=) | |
3 | g.38894695T>G | CA433336074 | SCN11A | c.2673A>C (p.Ser891=) c.2493A>C (p.Ser831=) c.2717A>C (n.2717A>C) c.2292A>C (p.Ser764=) c.2010A>C (p.Ser670=) c.1221A>C (p.Ser407=) c.3048A>C (p.Ser1016=) c.2475A>C (p.Ser825=) c.2400A>C (p.Ser800=) c.1077A>C (p.Ser359=) | gnomAD v4 |
3 | g.38894696G>A | CA352174631 | SCN11A | c.2672C>T (p.Ser891Leu) c.2492C>T (p.Ser831Leu) c.2716C>T (n.2716C>T) c.2291C>T (p.Ser764Leu) c.2009C>T (p.Ser670Leu) c.1220C>T (p.Ser407Leu) c.3047C>T (p.Ser1016Leu) c.2474C>T (p.Ser825Leu) c.2399C>T (p.Ser800Leu) c.1076C>T (p.Ser359Leu) | |
3 | g.38894696G>C | CA72997490 | SCN11A | c.2672C>G (p.Ser891Ter) c.2492C>G (p.Ser831Ter) c.2716C>G (n.2716C>G) c.2291C>G (p.Ser764Ter) c.2009C>G (p.Ser670Ter) c.1220C>G (p.Ser407Ter) c.3047C>G (p.Ser1016Ter) c.2474C>G (p.Ser825Ter) c.2399C>G (p.Ser800Ter) c.1076C>G (p.Ser359Ter) | dbSNP gnomAD v4 |
3 | g.38894696G= | CA1358718175 | SCN11A | c.2672C= (p.Ser891=) c.2492C= (p.Ser831=) c.2716C= (n.2716C=) c.2291C= (p.Ser764=) c.2009C= (p.Ser670=) c.1220C= (p.Ser407=) c.3047C= (p.Ser1016=) c.2474C= (p.Ser825=) c.2399C= (p.Ser800=) c.1076C= (p.Ser359=) | |
3 | g.38894696G>T | CA352174630 | SCN11A | c.2672C>A (p.Ser891Ter) c.2492C>A (p.Ser831Ter) c.2716C>A (n.2716C>A) c.2291C>A (p.Ser764Ter) c.2009C>A (p.Ser670Ter) c.1220C>A (p.Ser407Ter) c.3047C>A (p.Ser1016Ter) c.2474C>A (p.Ser825Ter) c.2399C>A (p.Ser800Ter) c.1076C>A (p.Ser359Ter) | |
3 | g.38894697A>C | CA352174632 | SCN11A | c.2671T>G (p.Ser891Ala) c.2491T>G (p.Ser831Ala) c.2715T>G (n.2715T>G) c.2290T>G (p.Ser764Ala) c.2008T>G (p.Ser670Ala) c.1219T>G (p.Ser407Ala) c.3046T>G (p.Ser1016Ala) c.2473T>G (p.Ser825Ala) c.2398T>G (p.Ser800Ala) c.1075T>G (p.Ser359Ala) | |
3 | g.38894697A>G | CA352174633 | SCN11A | c.2671T>C (p.Ser891Pro) c.2491T>C (p.Ser831Pro) c.2715T>C (n.2715T>C) c.2290T>C (p.Ser764Pro) c.2008T>C (p.Ser670Pro) c.1219T>C (p.Ser407Pro) c.3046T>C (p.Ser1016Pro) c.2473T>C (p.Ser825Pro) c.2398T>C (p.Ser800Pro) c.1075T>C (p.Ser359Pro) | ClinVar |
3 | g.38894697A>T | CA352174634 | SCN11A | c.2671T>A (p.Ser891Thr) c.2491T>A (p.Ser831Thr) c.2715T>A (n.2715T>A) c.2290T>A (p.Ser764Thr) c.2008T>A (p.Ser670Thr) c.1219T>A (p.Ser407Thr) c.3046T>A (p.Ser1016Thr) c.2473T>A (p.Ser825Thr) c.2398T>A (p.Ser800Thr) c.1075T>A (p.Ser359Thr) | |
3 | g.38894698G>A | CA433336076 | SCN11A | c.2670C>T (p.Gly890=) c.2490C>T (p.Gly830=) c.2714C>T (n.2714C>T) c.2289C>T (p.Gly763=) c.2007C>T (p.Gly669=) c.1218C>T (p.Gly406=) c.3045C>T (p.Gly1015=) c.2472C>T (p.Gly824=) c.2397C>T (p.Gly799=) c.1074C>T (p.Gly358=) | |
3 | g.38894698G>C | CA433336077 | SCN11A | c.2670C>G (p.Gly890=) c.2490C>G (p.Gly830=) c.2714C>G (n.2714C>G) c.2289C>G (p.Gly763=) c.2007C>G (p.Gly669=) c.1218C>G (p.Gly406=) c.3045C>G (p.Gly1015=) c.2472C>G (p.Gly824=) c.2397C>G (p.Gly799=) c.1074C>G (p.Gly358=) | |
3 | g.38894698G>T | CA433336078 | SCN11A | c.2670C>A (p.Gly890=) c.2490C>A (p.Gly830=) c.2714C>A (n.2714C>A) c.2289C>A (p.Gly763=) c.2007C>A (p.Gly669=) c.1218C>A (p.Gly406=) c.3045C>A (p.Gly1015=) c.2472C>A (p.Gly824=) c.2397C>A (p.Gly799=) c.1074C>A (p.Gly358=) | |
3 | g.38894699C>A | CA352174635 | SCN11A | c.2669G>T (p.Gly890Val) c.2489G>T (p.Gly830Val) c.2713G>T (n.2713G>T) c.2288G>T (p.Gly763Val) c.2006G>T (p.Gly669Val) c.1217G>T (p.Gly406Val) c.3044G>T (p.Gly1015Val) c.2471G>T (p.Gly824Val) c.2396G>T (p.Gly799Val) c.1073G>T (p.Gly358Val) | |
3 | g.38894699C= | CA1358718176 | SCN11A | c.2669G= (p.Gly890=) c.2489G= (p.Gly830=) c.2713G= (n.2713G=) c.2288G= (p.Gly763=) c.2006G= (p.Gly669=) c.1217G= (p.Gly406=) c.3044G= (p.Gly1015=) c.2471G= (p.Gly824=) c.2396G= (p.Gly799=) c.1073G= (p.Gly358=) | |
3 | g.38894699C>G | CA352174636 | SCN11A | c.2669G>C (p.Gly890Ala) c.2489G>C (p.Gly830Ala) c.2713G>C (n.2713G>C) c.2288G>C (p.Gly763Ala) c.2006G>C (p.Gly669Ala) c.1217G>C (p.Gly406Ala) c.3044G>C (p.Gly1015Ala) c.2471G>C (p.Gly824Ala) c.2396G>C (p.Gly799Ala) c.1073G>C (p.Gly358Ala) | |
3 | g.38894699C>T | CA2321992 | SCN11A | c.2669G>A (p.Gly890Asp) c.2489G>A (p.Gly830Asp) c.2713G>A (n.2713G>A) c.2288G>A (p.Gly763Asp) c.2006G>A (p.Gly669Asp) c.1217G>A (p.Gly406Asp) c.3044G>A (p.Gly1015Asp) c.2471G>A (p.Gly824Asp) c.2396G>A (p.Gly799Asp) c.1073G>A (p.Gly358Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.38894700C>A | CA352174637 | SCN11A | c.2668G>T (p.Gly890Cys) c.2488G>T (p.Gly830Cys) c.2712G>T (n.2712G>T) c.2287G>T (p.Gly763Cys) c.2005G>T (p.Gly669Cys) c.1216G>T (p.Gly406Cys) c.3043G>T (p.Gly1015Cys) c.2470G>T (p.Gly824Cys) c.2395G>T (p.Gly799Cys) c.1072G>T (p.Gly358Cys) | dbSNP |
3 | g.38894700C= | CA1358718177 | SCN11A | c.2668G= (p.Gly890=) c.2488G= (p.Gly830=) c.2712G= (n.2712G=) c.2287G= (p.Gly763=) c.2005G= (p.Gly669=) c.1216G= (p.Gly406=) c.3043G= (p.Gly1015=) c.2470G= (p.Gly824=) c.2395G= (p.Gly799=) c.1072G= (p.Gly358=) | |
3 | g.38894700C>G | CA352174638 | SCN11A | c.2668G>C (p.Gly890Arg) c.2488G>C (p.Gly830Arg) c.2712G>C (n.2712G>C) c.2287G>C (p.Gly763Arg) c.2005G>C (p.Gly669Arg) c.1216G>C (p.Gly406Arg) c.3043G>C (p.Gly1015Arg) c.2470G>C (p.Gly824Arg) c.2395G>C (p.Gly799Arg) c.1072G>C (p.Gly358Arg) | |
3 | g.38894700C>T | CA352174639 | SCN11A | c.2668G>A (p.Gly890Ser) c.2488G>A (p.Gly830Ser) c.2712G>A (n.2712G>A) c.2287G>A (p.Gly763Ser) c.2005G>A (p.Gly669Ser) c.1216G>A (p.Gly406Ser) c.3043G>A (p.Gly1015Ser) c.2470G>A (p.Gly824Ser) c.2395G>A (p.Gly799Ser) c.1072G>A (p.Gly358Ser) | gnomAD v4 |
3 | g.38894701C>A | CA352174640 | SCN11A | c.2667G>T (p.Arg889Ser) c.2487G>T (p.Arg829Ser) c.2711G>T (n.2711G>T) c.2286G>T (p.Arg762Ser) c.2004G>T (p.Arg668Ser) c.1215G>T (p.Arg405Ser) c.3042G>T (p.Arg1014Ser) c.2469G>T (p.Arg823Ser) c.2394G>T (p.Arg798Ser) c.1071G>T (p.Arg357Ser) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38894701C= | CA1358718178 | SCN11A | c.2667G= (p.Arg889=) c.2487G= (p.Arg829=) c.2711G= (n.2711G=) c.2286G= (p.Arg762=) c.2004G= (p.Arg668=) c.1215G= (p.Arg405=) c.3042G= (p.Arg1014=) c.2469G= (p.Arg823=) c.2394G= (p.Arg798=) c.1071G= (p.Arg357=) | |
3 | g.38894701C>G | CA352174641 | SCN11A | c.2667G>C (p.Arg889Ser) c.2487G>C (p.Arg829Ser) c.2711G>C (n.2711G>C) c.2286G>C (p.Arg762Ser) c.2004G>C (p.Arg668Ser) c.1215G>C (p.Arg405Ser) c.3042G>C (p.Arg1014Ser) c.2469G>C (p.Arg823Ser) c.2394G>C (p.Arg798Ser) c.1071G>C (p.Arg357Ser) | |
3 | g.38894701C>T | CA433336080 | SCN11A | c.2667G>A (p.Arg889=) c.2487G>A (p.Arg829=) c.2711G>A (n.2711G>A) c.2286G>A (p.Arg762=) c.2004G>A (p.Arg668=) c.1215G>A (p.Arg405=) c.3042G>A (p.Arg1014=) c.2469G>A (p.Arg823=) c.2394G>A (p.Arg798=) c.1071G>A (p.Arg357=) | COSMIC |
3 | g.38894702C>A | CA352174642 | SCN11A | c.2666G>T (p.Arg889Met) c.2486G>T (p.Arg829Met) c.2710G>T (n.2710G>T) c.2285G>T (p.Arg762Met) c.2003G>T (p.Arg668Met) c.1214G>T (p.Arg405Met) c.3041G>T (p.Arg1014Met) c.2468G>T (p.Arg823Met) c.2393G>T (p.Arg798Met) c.1070G>T (p.Arg357Met) | |
3 | g.38894702C= | CA1358718179 | SCN11A | c.2666G= (p.Arg889=) c.2486G= (p.Arg829=) c.2710G= (n.2710G=) c.2285G= (p.Arg762=) c.2003G= (p.Arg668=) c.1214G= (p.Arg405=) c.3041G= (p.Arg1014=) c.2468G= (p.Arg823=) c.2393G= (p.Arg798=) c.1070G= (p.Arg357=) | |
3 | g.38894702C>G | CA2321993 | SCN11A | c.2666G>C (p.Arg889Thr) c.2486G>C (p.Arg829Thr) c.2710G>C (n.2710G>C) c.2285G>C (p.Arg762Thr) c.2003G>C (p.Arg668Thr) c.1214G>C (p.Arg405Thr) c.3041G>C (p.Arg1014Thr) c.2468G>C (p.Arg823Thr) c.2393G>C (p.Arg798Thr) c.1070G>C (p.Arg357Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894702C>T | CA72997513 | SCN11A | c.2666G>A (p.Arg889Lys) c.2486G>A (p.Arg829Lys) c.2710G>A (n.2710G>A) c.2285G>A (p.Arg762Lys) c.2003G>A (p.Arg668Lys) c.1214G>A (p.Arg405Lys) c.3041G>A (p.Arg1014Lys) c.2468G>A (p.Arg823Lys) c.2393G>A (p.Arg798Lys) c.1070G>A (p.Arg357Lys) | dbSNP gnomAD v4 |
3 | g.38894703T>A | CA352174643 | SCN11A | c.2665A>T (p.Arg889Trp) c.2485A>T (p.Arg829Trp) c.2709A>T (n.2709A>T) c.2284A>T (p.Arg762Trp) c.2002A>T (p.Arg668Trp) c.1213A>T (p.Arg405Trp) c.3040A>T (p.Arg1014Trp) c.2467A>T (p.Arg823Trp) c.2392A>T (p.Arg798Trp) c.1069A>T (p.Arg357Trp) | |
3 | g.38894703T>C | CA352174644 | SCN11A | c.2665A>G (p.Arg889Gly) c.2485A>G (p.Arg829Gly) c.2709A>G (n.2709A>G) c.2284A>G (p.Arg762Gly) c.2002A>G (p.Arg668Gly) c.1213A>G (p.Arg405Gly) c.3040A>G (p.Arg1014Gly) c.2467A>G (p.Arg823Gly) c.2392A>G (p.Arg798Gly) c.1069A>G (p.Arg357Gly) | |
3 | g.38894703T>G | CA433336082 | SCN11A | c.2665A>C (p.Arg889=) c.2485A>C (p.Arg829=) c.2709A>C (n.2709A>C) c.2284A>C (p.Arg762=) c.2002A>C (p.Arg668=) c.1213A>C (p.Arg405=) c.3040A>C (p.Arg1014=) c.2467A>C (p.Arg823=) c.2392A>C (p.Arg798=) c.1069A>C (p.Arg357=) | |
3 | g.38894704T>A | CA352174645 | SCN11A | c.2664A>T (p.Lys888Asn) c.2484A>T (p.Lys828Asn) c.2708A>T (n.2708A>T) c.2283A>T (p.Lys761Asn) c.2001A>T (p.Lys667Asn) c.1212A>T (p.Lys404Asn) c.3039A>T (p.Lys1013Asn) c.2466A>T (p.Lys822Asn) c.2391A>T (p.Lys797Asn) c.1068A>T (p.Lys356Asn) | |
3 | g.38894704T>C | CA433336083 | SCN11A | c.2664A>G (p.Lys888=) c.2484A>G (p.Lys828=) c.2708A>G (n.2708A>G) c.2283A>G (p.Lys761=) c.2001A>G (p.Lys667=) c.1212A>G (p.Lys404=) c.3039A>G (p.Lys1013=) c.2466A>G (p.Lys822=) c.2391A>G (p.Lys797=) c.1068A>G (p.Lys356=) | gnomAD v4 |
3 | g.38894704T>G | CA352174646 | SCN11A | c.2664A>C (p.Lys888Asn) c.2484A>C (p.Lys828Asn) c.2708A>C (n.2708A>C) c.2283A>C (p.Lys761Asn) c.2001A>C (p.Lys667Asn) c.1212A>C (p.Lys404Asn) c.3039A>C (p.Lys1013Asn) c.2466A>C (p.Lys822Asn) c.2391A>C (p.Lys797Asn) c.1068A>C (p.Lys356Asn) | |
3 | g.38894705T>A | CA352174647 | SCN11A | c.2663A>T (p.Lys888Ile) c.2483A>T (p.Lys828Ile) c.2707A>T (n.2707A>T) c.2282A>T (p.Lys761Ile) c.2000A>T (p.Lys667Ile) c.1211A>T (p.Lys404Ile) c.3038A>T (p.Lys1013Ile) c.2465A>T (p.Lys822Ile) c.2390A>T (p.Lys797Ile) c.1067A>T (p.Lys356Ile) | |
3 | g.38894705T>C | CA352174648 | SCN11A | c.2663A>G (p.Lys888Arg) c.2483A>G (p.Lys828Arg) c.2707A>G (n.2707A>G) c.2282A>G (p.Lys761Arg) c.2000A>G (p.Lys667Arg) c.1211A>G (p.Lys404Arg) c.3038A>G (p.Lys1013Arg) c.2465A>G (p.Lys822Arg) c.2390A>G (p.Lys797Arg) c.1067A>G (p.Lys356Arg) | |
3 | g.38894705T>G | CA352174649 | SCN11A | c.2663A>C (p.Lys888Thr) c.2483A>C (p.Lys828Thr) c.2707A>C (n.2707A>C) c.2282A>C (p.Lys761Thr) c.2000A>C (p.Lys667Thr) c.1211A>C (p.Lys404Thr) c.3038A>C (p.Lys1013Thr) c.2465A>C (p.Lys822Thr) c.2390A>C (p.Lys797Thr) c.1067A>C (p.Lys356Thr) | |
3 | g.38894706T>A | CA352174650 | SCN11A | c.2662A>T (p.Lys888Ter) c.2482A>T (p.Lys828Ter) c.2706A>T (n.2706A>T) c.2281A>T (p.Lys761Ter) c.1999A>T (p.Lys667Ter) c.1210A>T (p.Lys404Ter) c.3037A>T (p.Lys1013Ter) c.2464A>T (p.Lys822Ter) c.2389A>T (p.Lys797Ter) c.1066A>T (p.Lys356Ter) | dbSNP |
3 | g.38894706T>C | CA2321994 | SCN11A | c.2662A>G (p.Lys888Glu) c.2482A>G (p.Lys828Glu) c.2706A>G (n.2706A>G) c.2281A>G (p.Lys761Glu) c.1999A>G (p.Lys667Glu) c.1210A>G (p.Lys404Glu) c.3037A>G (p.Lys1013Glu) c.2464A>G (p.Lys822Glu) c.2389A>G (p.Lys797Glu) c.1066A>G (p.Lys356Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894706T>G | CA352174651 | SCN11A | c.2662A>C (p.Lys888Gln) c.2482A>C (p.Lys828Gln) c.2706A>C (n.2706A>C) c.2281A>C (p.Lys761Gln) c.1999A>C (p.Lys667Gln) c.1210A>C (p.Lys404Gln) c.3037A>C (p.Lys1013Gln) c.2464A>C (p.Lys822Gln) c.2389A>C (p.Lys797Gln) c.1066A>C (p.Lys356Gln) | |
3 | g.38894706T= | CA1358718180 | SCN11A | c.2662A= (p.Lys888=) c.2482A= (p.Lys828=) c.2706A= (n.2706A=) c.2281A= (p.Lys761=) c.1999A= (p.Lys667=) c.1210A= (p.Lys404=) c.3037A= (p.Lys1013=) c.2464A= (p.Lys822=) c.2389A= (p.Lys797=) c.1066A= (p.Lys356=) | |
3 | g.38894707C>A | CA352174652 | SCN11A | c.2661G>T (p.Met887Ile) c.2481G>T (p.Met827Ile) c.2705G>T (n.2705G>T) c.2280G>T (p.Met760Ile) c.1998G>T (p.Met666Ile) c.1209G>T (p.Met403Ile) c.3036G>T (p.Met1012Ile) c.2463G>T (p.Met821Ile) c.2388G>T (p.Met796Ile) c.1065G>T (p.Met355Ile) | |
3 | g.38894707C= | CA1358718181 | SCN11A | c.2661G= (p.Met887=) c.2481G= (p.Met827=) c.2705G= (n.2705G=) c.2280G= (p.Met760=) c.1998G= (p.Met666=) c.1209G= (p.Met403=) c.3036G= (p.Met1012=) c.2463G= (p.Met821=) c.2388G= (p.Met796=) c.1065G= (p.Met355=) | |
3 | g.38894707C>G | CA352174653 | SCN11A | c.2661G>C (p.Met887Ile) c.2481G>C (p.Met827Ile) c.2705G>C (n.2705G>C) c.2280G>C (p.Met760Ile) c.1998G>C (p.Met666Ile) c.1209G>C (p.Met403Ile) c.3036G>C (p.Met1012Ile) c.2463G>C (p.Met821Ile) c.2388G>C (p.Met796Ile) c.1065G>C (p.Met355Ile) | |
3 | g.38894707C>T | CA2321995 | SCN11A | c.2661G>A (p.Met887Ile) c.2481G>A (p.Met827Ile) c.2705G>A (n.2705G>A) c.2280G>A (p.Met760Ile) c.1998G>A (p.Met666Ile) c.1209G>A (p.Met403Ile) c.3036G>A (p.Met1012Ile) c.2463G>A (p.Met821Ile) c.2388G>A (p.Met796Ile) c.1065G>A (p.Met355Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.38894708A= | CA1358718182 | SCN11A | c.2660T= (p.Met887=) c.2480T= (p.Met827=) c.2704T= (n.2704T=) c.2279T= (p.Met760=) c.1997T= (p.Met666=) c.1208T= (p.Met403=) c.3035T= (p.Met1012=) c.2462T= (p.Met821=) c.2387T= (p.Met796=) c.1064T= (p.Met355=) | |
3 | g.38894708A>C | CA352174655 | SCN11A | c.2660T>G (p.Met887Arg) c.2480T>G (p.Met827Arg) c.2704T>G (n.2704T>G) c.2279T>G (p.Met760Arg) c.1997T>G (p.Met666Arg) c.1208T>G (p.Met403Arg) c.3035T>G (p.Met1012Arg) c.2462T>G (p.Met821Arg) c.2387T>G (p.Met796Arg) c.1064T>G (p.Met355Arg) | dbSNP |
3 | g.38894708A>G | CA2321996 | SCN11A | c.2660T>C (p.Met887Thr) c.2480T>C (p.Met827Thr) c.2704T>C (n.2704T>C) c.2279T>C (p.Met760Thr) c.1997T>C (p.Met666Thr) c.1208T>C (p.Met403Thr) c.3035T>C (p.Met1012Thr) c.2462T>C (p.Met821Thr) c.2387T>C (p.Met796Thr) c.1064T>C (p.Met355Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894708A>T | CA352174654 | SCN11A | c.2660T>A (p.Met887Lys) c.2480T>A (p.Met827Lys) c.2704T>A (n.2704T>A) c.2279T>A (p.Met760Lys) c.1997T>A (p.Met666Lys) c.1208T>A (p.Met403Lys) c.3035T>A (p.Met1012Lys) c.2462T>A (p.Met821Lys) c.2387T>A (p.Met796Lys) c.1064T>A (p.Met355Lys) | ClinVar dbSNP |
3 | g.38894709T>A | CA352174656 | SCN11A | c.2659A>T (p.Met887Leu) c.2479A>T (p.Met827Leu) c.2703A>T (n.2703A>T) c.2278A>T (p.Met760Leu) c.1996A>T (p.Met666Leu) c.1207A>T (p.Met403Leu) c.3034A>T (p.Met1012Leu) c.2461A>T (p.Met821Leu) c.2386A>T (p.Met796Leu) c.1063A>T (p.Met355Leu) | |
3 | g.38894709T>C | CA352174657 | SCN11A | c.2659A>G (p.Met887Val) c.2479A>G (p.Met827Val) c.2703A>G (n.2703A>G) c.2278A>G (p.Met760Val) c.1996A>G (p.Met666Val) c.1207A>G (p.Met403Val) c.3034A>G (p.Met1012Val) c.2461A>G (p.Met821Val) c.2386A>G (p.Met796Val) c.1063A>G (p.Met355Val) | |
3 | g.38894709T>G | CA352174658 | SCN11A | c.2659A>C (p.Met887Leu) c.2479A>C (p.Met827Leu) c.2703A>C (n.2703A>C) c.2278A>C (p.Met760Leu) c.1996A>C (p.Met666Leu) c.1207A>C (p.Met403Leu) c.3034A>C (p.Met1012Leu) c.2461A>C (p.Met821Leu) c.2386A>C (p.Met796Leu) c.1063A>C (p.Met355Leu) | |
3 | g.38894710C>A | CA352174659 | SCN11A | c.2658G>T (p.Glu886Asp) c.2478G>T (p.Glu826Asp) c.2702G>T (n.2702G>T) c.2277G>T (p.Glu759Asp) c.1995G>T (p.Glu665Asp) c.1206G>T (p.Glu402Asp) c.3033G>T (p.Glu1011Asp) c.2460G>T (p.Glu820Asp) c.2385G>T (p.Glu795Asp) c.1062G>T (p.Glu354Asp) | |
3 | g.38894710C>G | CA352174660 | SCN11A | c.2658G>C (p.Glu886Asp) c.2478G>C (p.Glu826Asp) c.2702G>C (n.2702G>C) c.2277G>C (p.Glu759Asp) c.1995G>C (p.Glu665Asp) c.1206G>C (p.Glu402Asp) c.3033G>C (p.Glu1011Asp) c.2460G>C (p.Glu820Asp) c.2385G>C (p.Glu795Asp) c.1062G>C (p.Glu354Asp) | |
3 | g.38894710C>T | CA433336085 | SCN11A | c.2658G>A (p.Glu886=) c.2478G>A (p.Glu826=) c.2702G>A (n.2702G>A) c.2277G>A (p.Glu759=) c.1995G>A (p.Glu665=) c.1206G>A (p.Glu402=) c.3033G>A (p.Glu1011=) c.2460G>A (p.Glu820=) c.2385G>A (p.Glu795=) c.1062G>A (p.Glu354=) | |
3 | g.38894711T>A | CA352174661 | SCN11A | c.2657A>T (p.Glu886Val) c.2477A>T (p.Glu826Val) c.2701A>T (n.2701A>T) c.2276A>T (p.Glu759Val) c.1994A>T (p.Glu665Val) c.1205A>T (p.Glu402Val) c.3032A>T (p.Glu1011Val) c.2459A>T (p.Glu820Val) c.2384A>T (p.Glu795Val) c.1061A>T (p.Glu354Val) | |
3 | g.38894711T>C | CA352174662 | SCN11A | c.2657A>G (p.Glu886Gly) c.2477A>G (p.Glu826Gly) c.2701A>G (n.2701A>G) c.2276A>G (p.Glu759Gly) c.1994A>G (p.Glu665Gly) c.1205A>G (p.Glu402Gly) c.3032A>G (p.Glu1011Gly) c.2459A>G (p.Glu820Gly) c.2384A>G (p.Glu795Gly) c.1061A>G (p.Glu354Gly) | |
3 | g.38894711T>G | CA352174663 | SCN11A | c.2657A>C (p.Glu886Ala) c.2477A>C (p.Glu826Ala) c.2701A>C (n.2701A>C) c.2276A>C (p.Glu759Ala) c.1994A>C (p.Glu665Ala) c.1205A>C (p.Glu402Ala) c.3032A>C (p.Glu1011Ala) c.2459A>C (p.Glu820Ala) c.2384A>C (p.Glu795Ala) c.1061A>C (p.Glu354Ala) | |
3 | g.38894712C>A | CA2321997 | SCN11A | c.2656G>T (p.Glu886Ter) c.2476G>T (p.Glu826Ter) c.2700G>T (n.2700G>T) c.2275G>T (p.Glu759Ter) c.1993G>T (p.Glu665Ter) c.1204G>T (p.Glu402Ter) c.3031G>T (p.Glu1011Ter) c.2458G>T (p.Glu820Ter) c.2383G>T (p.Glu795Ter) c.1060G>T (p.Glu354Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38894712C= | CA1358718183 | SCN11A | c.2656G= (p.Glu886=) c.2476G= (p.Glu826=) c.2700G= (n.2700G=) c.2275G= (p.Glu759=) c.1993G= (p.Glu665=) c.1204G= (p.Glu402=) c.3031G= (p.Glu1011=) c.2458G= (p.Glu820=) c.2383G= (p.Glu795=) c.1060G= (p.Glu354=) | |
3 | g.38894712C>G | CA352174664 | SCN11A | c.2656G>C (p.Glu886Gln) c.2476G>C (p.Glu826Gln) c.2700G>C (n.2700G>C) c.2275G>C (p.Glu759Gln) c.1993G>C (p.Glu665Gln) c.1204G>C (p.Glu402Gln) c.3031G>C (p.Glu1011Gln) c.2458G>C (p.Glu820Gln) c.2383G>C (p.Glu795Gln) c.1060G>C (p.Glu354Gln) | |
3 | g.38894712C>T | CA352174665 | SCN11A | c.2656G>A (p.Glu886Lys) c.2476G>A (p.Glu826Lys) c.2700G>A (n.2700G>A) c.2275G>A (p.Glu759Lys) c.1993G>A (p.Glu665Lys) c.1204G>A (p.Glu402Lys) c.3031G>A (p.Glu1011Lys) c.2458G>A (p.Glu820Lys) c.2383G>A (p.Glu795Lys) c.1060G>A (p.Glu354Lys) | COSMIC |
3 | g.38894713C>A | CA352174668 | SCN11A | c.2655G>T (p.Met885Ile) c.2475G>T (p.Met825Ile) c.2699G>T (n.2699G>T) c.2274G>T (p.Met758Ile) c.1992G>T (p.Met664Ile) c.1203G>T (p.Met401Ile) c.3030G>T (p.Met1010Ile) c.2457G>T (p.Met819Ile) c.2382G>T (p.Met794Ile) c.1059G>T (p.Met353Ile) | |
3 | g.38894713C= | CA1358718184 | SCN11A | c.2655G= (p.Met885=) c.2475G= (p.Met825=) c.2699G= (n.2699G=) c.2274G= (p.Met758=) c.1992G= (p.Met664=) c.1203G= (p.Met401=) c.3030G= (p.Met1010=) c.2457G= (p.Met819=) c.2382G= (p.Met794=) c.1059G= (p.Met353=) | |
3 | g.38894713C>G | CA352174667 | SCN11A | c.2655G>C (p.Met885Ile) c.2475G>C (p.Met825Ile) c.2699G>C (n.2699G>C) c.2274G>C (p.Met758Ile) c.1992G>C (p.Met664Ile) c.1203G>C (p.Met401Ile) c.3030G>C (p.Met1010Ile) c.2457G>C (p.Met819Ile) c.2382G>C (p.Met794Ile) c.1059G>C (p.Met353Ile) | |
3 | g.38894713C>T | CA352174666 | SCN11A | c.2655G>A (p.Met885Ile) c.2475G>A (p.Met825Ile) c.2699G>A (n.2699G>A) c.2274G>A (p.Met758Ile) c.1992G>A (p.Met664Ile) c.1203G>A (p.Met401Ile) c.3030G>A (p.Met1010Ile) c.2457G>A (p.Met819Ile) c.2382G>A (p.Met794Ile) c.1059G>A (p.Met353Ile) | ClinVar dbSNP |
3 | g.38894714A= | CA1358718185 | SCN11A | c.2654T= (p.Met885=) c.2474T= (p.Met825=) c.2698T= (n.2698T=) c.2273T= (p.Met758=) c.1991T= (p.Met664=) c.1202T= (p.Met401=) c.3029T= (p.Met1010=) c.2456T= (p.Met819=) c.2381T= (p.Met794=) c.1058T= (p.Met353=) | |
3 | g.38894714A>C | CA352174669 | SCN11A | c.2654T>G (p.Met885Arg) c.2474T>G (p.Met825Arg) c.2698T>G (n.2698T>G) c.2273T>G (p.Met758Arg) c.1991T>G (p.Met664Arg) c.1202T>G (p.Met401Arg) c.3029T>G (p.Met1010Arg) c.2456T>G (p.Met819Arg) c.2381T>G (p.Met794Arg) c.1058T>G (p.Met353Arg) | |
3 | g.38894714A>G | CA352174671 | SCN11A | c.2654T>C (p.Met885Thr) c.2474T>C (p.Met825Thr) c.2698T>C (n.2698T>C) c.2273T>C (p.Met758Thr) c.1991T>C (p.Met664Thr) c.1202T>C (p.Met401Thr) c.3029T>C (p.Met1010Thr) c.2456T>C (p.Met819Thr) c.2381T>C (p.Met794Thr) c.1058T>C (p.Met353Thr) | ClinVar dbSNP gnomAD v4 |
3 | g.38894714A>T | CA352174670 | SCN11A | c.2654T>A (p.Met885Lys) c.2474T>A (p.Met825Lys) c.2698T>A (n.2698T>A) c.2273T>A (p.Met758Lys) c.1991T>A (p.Met664Lys) c.1202T>A (p.Met401Lys) c.3029T>A (p.Met1010Lys) c.2456T>A (p.Met819Lys) c.2381T>A (p.Met794Lys) c.1058T>A (p.Met353Lys) | |
3 | g.38894715T>A | CA2321998 | SCN11A | c.2653A>T (p.Met885Leu) c.2473A>T (p.Met825Leu) c.2697A>T (n.2697A>T) c.2272A>T (p.Met758Leu) c.1990A>T (p.Met664Leu) c.1201A>T (p.Met401Leu) c.3028A>T (p.Met1010Leu) c.2455A>T (p.Met819Leu) c.2380A>T (p.Met794Leu) c.1057A>T (p.Met353Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894715T>C | CA2321999 | SCN11A | c.2653A>G (p.Met885Val) c.2473A>G (p.Met825Val) c.2697A>G (n.2697A>G) c.2272A>G (p.Met758Val) c.1990A>G (p.Met664Val) c.1201A>G (p.Met401Val) c.3028A>G (p.Met1010Val) c.2455A>G (p.Met819Val) c.2380A>G (p.Met794Val) c.1057A>G (p.Met353Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894715T>G | CA352174672 | SCN11A | c.2653A>C (p.Met885Leu) c.2473A>C (p.Met825Leu) c.2697A>C (n.2697A>C) c.2272A>C (p.Met758Leu) c.1990A>C (p.Met664Leu) c.1201A>C (p.Met401Leu) c.3028A>C (p.Met1010Leu) c.2455A>C (p.Met819Leu) c.2380A>C (p.Met794Leu) c.1057A>C (p.Met353Leu) | |
3 | g.38894715T= | CA1358718186 | SCN11A | c.2653A= (p.Met885=) c.2473A= (p.Met825=) c.2697A= (n.2697A=) c.2272A= (p.Met758=) c.1990A= (p.Met664=) c.1201A= (p.Met401=) c.3028A= (p.Met1010=) c.2455A= (p.Met819=) c.2380A= (p.Met794=) c.1057A= (p.Met353=) | |
3 | g.38894716G>A | CA433336092 | SCN11A | c.2652C>T (p.Val884=) c.2472C>T (p.Val824=) c.2696C>T (n.2696C>T) c.2271C>T (p.Val757=) c.1989C>T (p.Val663=) c.1200C>T (p.Val400=) c.3027C>T (p.Val1009=) c.2454C>T (p.Val818=) c.2379C>T (p.Val793=) c.1056C>T (p.Val352=) | |
3 | g.38894716G>C | CA433336093 | SCN11A | c.2652C>G (p.Val884=) c.2472C>G (p.Val824=) c.2696C>G (n.2696C>G) c.2271C>G (p.Val757=) c.1989C>G (p.Val663=) c.1200C>G (p.Val400=) c.3027C>G (p.Val1009=) c.2454C>G (p.Val818=) c.2379C>G (p.Val793=) c.1056C>G (p.Val352=) | |
3 | g.38894716G>T | CA433336094 | SCN11A | c.2652C>A (p.Val884=) c.2472C>A (p.Val824=) c.2696C>A (n.2696C>A) c.2271C>A (p.Val757=) c.1989C>A (p.Val663=) c.1200C>A (p.Val400=) c.3027C>A (p.Val1009=) c.2454C>A (p.Val818=) c.2379C>A (p.Val793=) c.1056C>A (p.Val352=) | gnomAD v4 |
3 | g.38894717A>C | CA352174673 | SCN11A | c.2651T>G (p.Val884Gly) c.2471T>G (p.Val824Gly) c.2695T>G (n.2695T>G) c.2270T>G (p.Val757Gly) c.1988T>G (p.Val663Gly) c.1199T>G (p.Val400Gly) c.3026T>G (p.Val1009Gly) c.2453T>G (p.Val818Gly) c.2378T>G (p.Val793Gly) c.1055T>G (p.Val352Gly) | |
3 | g.38894717A>G | CA352174675 | SCN11A | c.2651T>C (p.Val884Ala) c.2471T>C (p.Val824Ala) c.2695T>C (n.2695T>C) c.2270T>C (p.Val757Ala) c.1988T>C (p.Val663Ala) c.1199T>C (p.Val400Ala) c.3026T>C (p.Val1009Ala) c.2453T>C (p.Val818Ala) c.2378T>C (p.Val793Ala) c.1055T>C (p.Val352Ala) | COSMIC |
3 | g.38894717A>T | CA352174674 | SCN11A | c.2651T>A (p.Val884Asp) c.2471T>A (p.Val824Asp) c.2695T>A (n.2695T>A) c.2270T>A (p.Val757Asp) c.1988T>A (p.Val663Asp) c.1199T>A (p.Val400Asp) c.3026T>A (p.Val1009Asp) c.2453T>A (p.Val818Asp) c.2378T>A (p.Val793Asp) c.1055T>A (p.Val352Asp) | gnomAD v4 |
3 | g.38894718C>A | CA352174676 | SCN11A | c.2650G>T (p.Val884Phe) c.2470G>T (p.Val824Phe) c.2694G>T (n.2694G>T) c.2269G>T (p.Val757Phe) c.1987G>T (p.Val663Phe) c.1198G>T (p.Val400Phe) c.3025G>T (p.Val1009Phe) c.2452G>T (p.Val818Phe) c.2377G>T (p.Val793Phe) c.1054G>T (p.Val352Phe) | |
3 | g.38894718C= | CA1358718187 | SCN11A | c.2650G= (p.Val884=) c.2470G= (p.Val824=) c.2694G= (n.2694G=) c.2269G= (p.Val757=) c.1987G= (p.Val663=) c.1198G= (p.Val400=) c.3025G= (p.Val1009=) c.2452G= (p.Val818=) c.2377G= (p.Val793=) c.1054G= (p.Val352=) | |
3 | g.38894718C>G | CA72997541 | SCN11A | c.2650G>C (p.Val884Leu) c.2470G>C (p.Val824Leu) c.2694G>C (n.2694G>C) c.2269G>C (p.Val757Leu) c.1987G>C (p.Val663Leu) c.1198G>C (p.Val400Leu) c.3025G>C (p.Val1009Leu) c.2452G>C (p.Val818Leu) c.2377G>C (p.Val793Leu) c.1054G>C (p.Val352Leu) | dbSNP |
3 | g.38894718C>T | CA352174677 | SCN11A | c.2650G>A (p.Val884Ile) c.2470G>A (p.Val824Ile) c.2694G>A (n.2694G>A) c.2269G>A (p.Val757Ile) c.1987G>A (p.Val663Ile) c.1198G>A (p.Val400Ile) c.3025G>A (p.Val1009Ile) c.2452G>A (p.Val818Ile) c.2377G>A (p.Val793Ile) c.1054G>A (p.Val352Ile) | COSMIC |
3 | g.38894719C>A | CA2322001 | SCN11A | c.2649G>T (p.Leu883=) c.2469G>T (p.Leu823=) c.2693G>T (n.2693G>T) c.2268G>T (p.Leu756=) c.1986G>T (p.Leu662=) c.1197G>T (p.Leu399=) c.3024G>T (p.Leu1008=) c.2451G>T (p.Leu817=) c.2376G>T (p.Leu792=) c.1053G>T (p.Leu351=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38894719C= | CA1358718188 | SCN11A | c.2649G= (p.Leu883=) c.2469G= (p.Leu823=) c.2693G= (n.2693G=) c.2268G= (p.Leu756=) c.1986G= (p.Leu662=) c.1197G= (p.Leu399=) c.3024G= (p.Leu1008=) c.2451G= (p.Leu817=) c.2376G= (p.Leu792=) c.1053G= (p.Leu351=) | |
3 | g.38894719C>G | CA2322000 | SCN11A | c.2649G>C (p.Leu883=) c.2469G>C (p.Leu823=) c.2693G>C (n.2693G>C) c.2268G>C (p.Leu756=) c.1986G>C (p.Leu662=) c.1197G>C (p.Leu399=) c.3024G>C (p.Leu1008=) c.2451G>C (p.Leu817=) c.2376G>C (p.Leu792=) c.1053G>C (p.Leu351=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894719C>T | CA433336096 | SCN11A | c.2649G>A (p.Leu883=) c.2469G>A (p.Leu823=) c.2693G>A (n.2693G>A) c.2268G>A (p.Leu756=) c.1986G>A (p.Leu662=) c.1197G>A (p.Leu399=) c.3024G>A (p.Leu1008=) c.2451G>A (p.Leu817=) c.2376G>A (p.Leu792=) c.1053G>A (p.Leu351=) | |
3 | g.38894720del | CA2665127320 | SCN11A | c.2648del (p.Leu883ArgfsTer5) c.2468del (p.Leu823ArgfsTer5) c.2692del (n.2692del) c.2267del (p.Leu756ArgfsTer5) c.1985del (p.Leu662ArgfsTer5) c.1196del (p.Leu399ArgfsTer5) c.3023del (p.Leu1008ArgfsTer5) c.2450del (p.Leu817ArgfsTer5) c.2375del (p.Leu792ArgfsTer5) c.1052del (p.Leu351ArgfsTer5) | gnomAD v4 |
3 | g.38894720A>C | CA352174678 | SCN11A | c.2648T>G (p.Leu883Arg) c.2468T>G (p.Leu823Arg) c.2692T>G (n.2692T>G) c.2267T>G (p.Leu756Arg) c.1985T>G (p.Leu662Arg) c.1196T>G (p.Leu399Arg) c.3023T>G (p.Leu1008Arg) c.2450T>G (p.Leu817Arg) c.2375T>G (p.Leu792Arg) c.1052T>G (p.Leu351Arg) | |
3 | g.38894720A>G | CA352174679 | SCN11A | c.2648T>C (p.Leu883Pro) c.2468T>C (p.Leu823Pro) c.2692T>C (n.2692T>C) c.2267T>C (p.Leu756Pro) c.1985T>C (p.Leu662Pro) c.1196T>C (p.Leu399Pro) c.3023T>C (p.Leu1008Pro) c.2450T>C (p.Leu817Pro) c.2375T>C (p.Leu792Pro) c.1052T>C (p.Leu351Pro) | |
3 | g.38894720A>T | CA352174680 | SCN11A | c.2648T>A (p.Leu883Gln) c.2468T>A (p.Leu823Gln) c.2692T>A (n.2692T>A) c.2267T>A (p.Leu756Gln) c.1985T>A (p.Leu662Gln) c.1196T>A (p.Leu399Gln) c.3023T>A (p.Leu1008Gln) c.2450T>A (p.Leu817Gln) c.2375T>A (p.Leu792Gln) c.1052T>A (p.Leu351Gln) | |
3 | g.38894721G>A | CA433336097 | SCN11A | c.2647C>T (p.Leu883=) c.2467C>T (p.Leu823=) c.2691C>T (n.2691C>T) c.2266C>T (p.Leu756=) c.1984C>T (p.Leu662=) c.1195C>T (p.Leu399=) c.3022C>T (p.Leu1008=) c.2449C>T (p.Leu817=) c.2374C>T (p.Leu792=) c.1051C>T (p.Leu351=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38894721G>C | CA352174681 | SCN11A | c.2647C>G (p.Leu883Val) c.2467C>G (p.Leu823Val) c.2691C>G (n.2691C>G) c.2266C>G (p.Leu756Val) c.1984C>G (p.Leu662Val) c.1195C>G (p.Leu399Val) c.3022C>G (p.Leu1008Val) c.2449C>G (p.Leu817Val) c.2374C>G (p.Leu792Val) c.1051C>G (p.Leu351Val) | |
3 | g.38894721G= | CA1358718189 | SCN11A | c.2647C= (p.Leu883=) c.2467C= (p.Leu823=) c.2691C= (n.2691C=) c.2266C= (p.Leu756=) c.1984C= (p.Leu662=) c.1195C= (p.Leu399=) c.3022C= (p.Leu1008=) c.2449C= (p.Leu817=) c.2374C= (p.Leu792=) c.1051C= (p.Leu351=) | |
3 | g.38894721G>T | CA352174682 | SCN11A | c.2647C>A (p.Leu883Met) c.2467C>A (p.Leu823Met) c.2691C>A (n.2691C>A) c.2266C>A (p.Leu756Met) c.1984C>A (p.Leu662Met) c.1195C>A (p.Leu399Met) c.3022C>A (p.Leu1008Met) c.2449C>A (p.Leu817Met) c.2374C>A (p.Leu792Met) c.1051C>A (p.Leu351Met) | |
3 | g.38894722G>A | CA2322002 | SCN11A | c.2646C>T (p.Pro882=) c.2466C>T (p.Pro822=) c.2690C>T (n.2690C>T) c.2265C>T (p.Pro755=) c.1983C>T (p.Pro661=) c.1194C>T (p.Pro398=) c.3021C>T (p.Pro1007=) c.2448C>T (p.Pro816=) c.2373C>T (p.Pro791=) c.1050C>T (p.Pro350=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894722G>C | CA433336098 | SCN11A | c.2646C>G (p.Pro882=) c.2466C>G (p.Pro822=) c.2690C>G (n.2690C>G) c.2265C>G (p.Pro755=) c.1983C>G (p.Pro661=) c.1194C>G (p.Pro398=) c.3021C>G (p.Pro1007=) c.2448C>G (p.Pro816=) c.2373C>G (p.Pro791=) c.1050C>G (p.Pro350=) | |
3 | g.38894722G= | CA1358718190 | SCN11A | c.2646C= (p.Pro882=) c.2466C= (p.Pro822=) c.2690C= (n.2690C=) c.2265C= (p.Pro755=) c.1983C= (p.Pro661=) c.1194C= (p.Pro398=) c.3021C= (p.Pro1007=) c.2448C= (p.Pro816=) c.2373C= (p.Pro791=) c.1050C= (p.Pro350=) | |
3 | g.38894722G>T | CA433336099 | SCN11A | c.2646C>A (p.Pro882=) c.2466C>A (p.Pro822=) c.2690C>A (n.2690C>A) c.2265C>A (p.Pro755=) c.1983C>A (p.Pro661=) c.1194C>A (p.Pro398=) c.3021C>A (p.Pro1007=) c.2448C>A (p.Pro816=) c.2373C>A (p.Pro791=) c.1050C>A (p.Pro350=) | |
3 | g.38894722_38894723delinsAA | CA72997563 | SCN11A | c.2645_2646delinsTT (p.Pro882Leu) c.2465_2466delinsTT (p.Pro822Leu) c.2689_2690delinsTT (n.2689_2690delinsTT) c.2264_2265delinsTT (p.Pro755Leu) c.1982_1983delinsTT (p.Pro661Leu) c.1193_1194delinsTT (p.Pro398Leu) c.3020_3021delinsTT (p.Pro1007Leu) c.2447_2448delinsTT (p.Pro816Leu) c.2372_2373delinsTT (p.Pro791Leu) c.1049_1050delinsTT (p.Pro350Leu) | dbSNP |
3 | g.38894722_38894723delinsGG | CA1358718191 | SCN11A | c.2645_2646delinsCC (p.Pro882=) c.2465_2466delinsCC (p.Pro822=) c.2689_2690delinsCC (n.2689_2690delinsCC) c.2264_2265delinsCC (p.Pro755=) c.1982_1983delinsCC (p.Pro661=) c.1193_1194delinsCC (p.Pro398=) c.3020_3021delinsCC (p.Pro1007=) c.2447_2448delinsCC (p.Pro816=) c.2372_2373delinsCC (p.Pro791=) c.1049_1050delinsCC (p.Pro350=) | |
3 | g.38894723G>A | CA352174685 | SCN11A | c.2645C>T (p.Pro882Leu) c.2465C>T (p.Pro822Leu) c.2689C>T (n.2689C>T) c.2264C>T (p.Pro755Leu) c.1982C>T (p.Pro661Leu) c.1193C>T (p.Pro398Leu) c.3020C>T (p.Pro1007Leu) c.2447C>T (p.Pro816Leu) c.2372C>T (p.Pro791Leu) c.1049C>T (p.Pro350Leu) | gnomAD v4 COSMIC |
3 | g.38894723G>C | CA352174683 | SCN11A | c.2645C>G (p.Pro882Arg) c.2465C>G (p.Pro822Arg) c.2689C>G (n.2689C>G) c.2264C>G (p.Pro755Arg) c.1982C>G (p.Pro661Arg) c.1193C>G (p.Pro398Arg) c.3020C>G (p.Pro1007Arg) c.2447C>G (p.Pro816Arg) c.2372C>G (p.Pro791Arg) c.1049C>G (p.Pro350Arg) | gnomAD v4 |
3 | g.38894723G>T | CA352174684 | SCN11A | c.2645C>A (p.Pro882His) c.2465C>A (p.Pro822His) c.2689C>A (n.2689C>A) c.2264C>A (p.Pro755His) c.1982C>A (p.Pro661His) c.1193C>A (p.Pro398His) c.3020C>A (p.Pro1007His) c.2447C>A (p.Pro816His) c.2372C>A (p.Pro791His) c.1049C>A (p.Pro350His) | |
3 | g.38894723_38894724delinsAA | CA645525912 | SCN11A | c.2644_2645delinsTT (p.Pro882Phe) c.2464_2465delinsTT (p.Pro822Phe) c.2688_2689delinsTT (n.2688_2689delinsTT) c.2263_2264delinsTT (p.Pro755Phe) c.1981_1982delinsTT (p.Pro661Phe) c.1192_1193delinsTT (p.Pro398Phe) c.3019_3020delinsTT (p.Pro1007Phe) c.2446_2447delinsTT (p.Pro816Phe) c.2371_2372delinsTT (p.Pro791Phe) c.1048_1049delinsTT (p.Pro350Phe) | COSMIC |
3 | g.38894724G>A | CA352174686 | SCN11A | c.2644C>T (p.Pro882Ser) c.2464C>T (p.Pro822Ser) c.2688C>T (n.2688C>T) c.2263C>T (p.Pro755Ser) c.1981C>T (p.Pro661Ser) c.1192C>T (p.Pro398Ser) c.3019C>T (p.Pro1007Ser) c.2446C>T (p.Pro816Ser) c.2371C>T (p.Pro791Ser) c.1048C>T (p.Pro350Ser) | ClinVar dbSNP COSMIC |
3 | g.38894724G>C | CA352174687 | SCN11A | c.2644C>G (p.Pro882Ala) c.2464C>G (p.Pro822Ala) c.2688C>G (n.2688C>G) c.2263C>G (p.Pro755Ala) c.1981C>G (p.Pro661Ala) c.1192C>G (p.Pro398Ala) c.3019C>G (p.Pro1007Ala) c.2446C>G (p.Pro816Ala) c.2371C>G (p.Pro791Ala) c.1048C>G (p.Pro350Ala) | |
3 | g.38894724G= | CA1358718192 | SCN11A | c.2644C= (p.Pro882=) c.2464C= (p.Pro822=) c.2688C= (n.2688C=) c.2263C= (p.Pro755=) c.1981C= (p.Pro661=) c.1192C= (p.Pro398=) c.3019C= (p.Pro1007=) c.2446C= (p.Pro816=) c.2371C= (p.Pro791=) c.1048C= (p.Pro350=) | |
3 | g.38894724G>T | CA352174688 | SCN11A | c.2644C>A (p.Pro882Thr) c.2464C>A (p.Pro822Thr) c.2688C>A (n.2688C>A) c.2263C>A (p.Pro755Thr) c.1981C>A (p.Pro661Thr) c.1192C>A (p.Pro398Thr) c.3019C>A (p.Pro1007Thr) c.2446C>A (p.Pro816Thr) c.2371C>A (p.Pro791Thr) c.1048C>A (p.Pro350Thr) | |
3 | g.38894725A>C | CA352174689 | SCN11A | c.2643T>G (p.Ile881Met) c.2463T>G (p.Ile821Met) c.2687T>G (n.2687T>G) c.2262T>G (p.Ile754Met) c.1980T>G (p.Ile660Met) c.1191T>G (p.Ile397Met) c.3018T>G (p.Ile1006Met) c.2445T>G (p.Ile815Met) c.2370T>G (p.Ile790Met) c.1047T>G (p.Ile349Met) | |
3 | g.38894725A>G | CA433336067 | SCN11A | c.2643T>C (p.Ile881=) c.2463T>C (p.Ile821=) c.2687T>C (n.2687T>C) c.2262T>C (p.Ile754=) c.1980T>C (p.Ile660=) c.1191T>C (p.Ile397=) c.3018T>C (p.Ile1006=) c.2445T>C (p.Ile815=) c.2370T>C (p.Ile790=) c.1047T>C (p.Ile349=) | |
3 | g.38894725A>T | CA433336068 | SCN11A | c.2643T>A (p.Ile881=) c.2463T>A (p.Ile821=) c.2687T>A (n.2687T>A) c.2262T>A (p.Ile754=) c.1980T>A (p.Ile660=) c.1191T>A (p.Ile397=) c.3018T>A (p.Ile1006=) c.2445T>A (p.Ile815=) c.2370T>A (p.Ile790=) c.1047T>A (p.Ile349=) | |
3 | g.38894726A>C | CA352174690 | SCN11A | c.2642T>G (p.Ile881Ser) c.2462T>G (p.Ile821Ser) c.2686T>G (n.2686T>G) c.2261T>G (p.Ile754Ser) c.1979T>G (p.Ile660Ser) c.1190T>G (p.Ile397Ser) c.3017T>G (p.Ile1006Ser) c.2444T>G (p.Ile815Ser) c.2369T>G (p.Ile790Ser) c.1046T>G (p.Ile349Ser) | |
3 | g.38894726A>G | CA352174691 | SCN11A | c.2642T>C (p.Ile881Thr) c.2462T>C (p.Ile821Thr) c.2686T>C (n.2686T>C) c.2261T>C (p.Ile754Thr) c.1979T>C (p.Ile660Thr) c.1190T>C (p.Ile397Thr) c.3017T>C (p.Ile1006Thr) c.2444T>C (p.Ile815Thr) c.2369T>C (p.Ile790Thr) c.1046T>C (p.Ile349Thr) | |
3 | g.38894726A>T | CA352174692 | SCN11A | c.2642T>A (p.Ile881Asn) c.2462T>A (p.Ile821Asn) c.2686T>A (n.2686T>A) c.2261T>A (p.Ile754Asn) c.1979T>A (p.Ile660Asn) c.1190T>A (p.Ile397Asn) c.3017T>A (p.Ile1006Asn) c.2444T>A (p.Ile815Asn) c.2369T>A (p.Ile790Asn) c.1046T>A (p.Ile349Asn) | |
3 | g.38894727T>A | CA352174693 | SCN11A | c.2641A>T (p.Ile881Phe) c.2461A>T (p.Ile821Phe) c.2685A>T (n.2685A>T) c.2260A>T (p.Ile754Phe) c.1978A>T (p.Ile660Phe) c.1189A>T (p.Ile397Phe) c.3016A>T (p.Ile1006Phe) c.2443A>T (p.Ile815Phe) c.2368A>T (p.Ile790Phe) c.1045A>T (p.Ile349Phe) | gnomAD v4 |
3 | g.38894727T>C | CA2322003 | SCN11A | c.2641A>G (p.Ile881Val) c.2461A>G (p.Ile821Val) c.2685A>G (n.2685A>G) c.2260A>G (p.Ile754Val) c.1978A>G (p.Ile660Val) c.1189A>G (p.Ile397Val) c.3016A>G (p.Ile1006Val) c.2443A>G (p.Ile815Val) c.2368A>G (p.Ile790Val) c.1045A>G (p.Ile349Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894727T>G | CA352174694 | SCN11A | c.2641A>C (p.Ile881Leu) c.2461A>C (p.Ile821Leu) c.2685A>C (n.2685A>C) c.2260A>C (p.Ile754Leu) c.1978A>C (p.Ile660Leu) c.1189A>C (p.Ile397Leu) c.3016A>C (p.Ile1006Leu) c.2443A>C (p.Ile815Leu) c.2368A>C (p.Ile790Leu) c.1045A>C (p.Ile349Leu) | |
3 | g.38894727T= | CA1358718193 | SCN11A | c.2641A= (p.Ile881=) c.2461A= (p.Ile821=) c.2685A= (n.2685A=) c.2260A= (p.Ile754=) c.1978A= (p.Ile660=) c.1189A= (p.Ile397=) c.3016A= (p.Ile1006=) c.2443A= (p.Ile815=) c.2368A= (p.Ile790=) c.1045A= (p.Ile349=) | |
3 | g.38894728G>A | CA433336070 | SCN11A | c.2640C>T (p.Ile880=) c.2460C>T (p.Ile820=) c.2684C>T (n.2684C>T) c.2259C>T (p.Ile753=) c.1977C>T (p.Ile659=) c.1188C>T (p.Ile396=) c.3015C>T (p.Ile1005=) c.2442C>T (p.Ile814=) c.2367C>T (p.Ile789=) c.1044C>T (p.Ile348=) | |
3 | g.38894728G>C | CA352174695 | SCN11A | c.2640C>G (p.Ile880Met) c.2460C>G (p.Ile820Met) c.2684C>G (n.2684C>G) c.2259C>G (p.Ile753Met) c.1977C>G (p.Ile659Met) c.1188C>G (p.Ile396Met) c.3015C>G (p.Ile1005Met) c.2442C>G (p.Ile814Met) c.2367C>G (p.Ile789Met) c.1044C>G (p.Ile348Met) | |
3 | g.38894728G>T | CA433336071 | SCN11A | c.2640C>A (p.Ile880=) c.2460C>A (p.Ile820=) c.2684C>A (n.2684C>A) c.2259C>A (p.Ile753=) c.1977C>A (p.Ile659=) c.1188C>A (p.Ile396=) c.3015C>A (p.Ile1005=) c.2442C>A (p.Ile814=) c.2367C>A (p.Ile789=) c.1044C>A (p.Ile348=) | gnomAD v4 |
3 | g.38894729A>C | CA352174698 | SCN11A | c.2639T>G (p.Ile880Ser) c.2459T>G (p.Ile820Ser) c.2683T>G (n.2683T>G) c.2258T>G (p.Ile753Ser) c.1976T>G (p.Ile659Ser) c.1187T>G (p.Ile396Ser) c.3014T>G (p.Ile1005Ser) c.2441T>G (p.Ile814Ser) c.2366T>G (p.Ile789Ser) c.1043T>G (p.Ile348Ser) | |
3 | g.38894729A>G | CA352174696 | SCN11A | c.2639T>C (p.Ile880Thr) c.2459T>C (p.Ile820Thr) c.2683T>C (n.2683T>C) c.2258T>C (p.Ile753Thr) c.1976T>C (p.Ile659Thr) c.1187T>C (p.Ile396Thr) c.3014T>C (p.Ile1005Thr) c.2441T>C (p.Ile814Thr) c.2366T>C (p.Ile789Thr) c.1043T>C (p.Ile348Thr) | |
3 | g.38894729A>T | CA352174697 | SCN11A | c.2639T>A (p.Ile880Asn) c.2459T>A (p.Ile820Asn) c.2683T>A (n.2683T>A) c.2258T>A (p.Ile753Asn) c.1976T>A (p.Ile659Asn) c.1187T>A (p.Ile396Asn) c.3014T>A (p.Ile1005Asn) c.2441T>A (p.Ile814Asn) c.2366T>A (p.Ile789Asn) c.1043T>A (p.Ile348Asn) | |
3 | g.38894730T>A | CA2322004 | SCN11A | c.2638A>T (p.Ile880Phe) c.2458A>T (p.Ile820Phe) c.2682A>T (n.2682A>T) c.2257A>T (p.Ile753Phe) c.1975A>T (p.Ile659Phe) c.1186A>T (p.Ile396Phe) c.3013A>T (p.Ile1005Phe) c.2440A>T (p.Ile814Phe) c.2365A>T (p.Ile789Phe) c.1042A>T (p.Ile348Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894730T>C | CA352174699 | SCN11A | c.2638A>G (p.Ile880Val) c.2458A>G (p.Ile820Val) c.2682A>G (n.2682A>G) c.2257A>G (p.Ile753Val) c.1975A>G (p.Ile659Val) c.1186A>G (p.Ile396Val) c.3013A>G (p.Ile1005Val) c.2440A>G (p.Ile814Val) c.2365A>G (p.Ile789Val) c.1042A>G (p.Ile348Val) | |
3 | g.38894730T>G | CA352174700 | SCN11A | c.2638A>C (p.Ile880Leu) c.2458A>C (p.Ile820Leu) c.2682A>C (n.2682A>C) c.2257A>C (p.Ile753Leu) c.1975A>C (p.Ile659Leu) c.1186A>C (p.Ile396Leu) c.3013A>C (p.Ile1005Leu) c.2440A>C (p.Ile814Leu) c.2365A>C (p.Ile789Leu) c.1042A>C (p.Ile348Leu) | |
3 | g.38894730T= | CA1358718194 | SCN11A | c.2638A= (p.Ile880=) c.2458A= (p.Ile820=) c.2682A= (n.2682A=) c.2257A= (p.Ile753=) c.1975A= (p.Ile659=) c.1186A= (p.Ile396=) c.3013A= (p.Ile1005=) c.2440A= (p.Ile814=) c.2365A= (p.Ile789=) c.1042A= (p.Ile348=) | |
3 | g.38894731G>A | CA433336075 | SCN11A | c.2637C>T (p.Asp879=) c.2457C>T (p.Asp819=) c.2681C>T (n.2681C>T) c.2256C>T (p.Asp752=) c.1974C>T (p.Asp658=) c.1185C>T (p.Asp395=) c.3012C>T (p.Asp1004=) c.2439C>T (p.Asp813=) c.2364C>T (p.Asp788=) c.1041C>T (p.Asp347=) | |
3 | g.38894731G>C | CA352174701 | SCN11A | c.2637C>G (p.Asp879Glu) c.2457C>G (p.Asp819Glu) c.2681C>G (n.2681C>G) c.2256C>G (p.Asp752Glu) c.1974C>G (p.Asp658Glu) c.1185C>G (p.Asp395Glu) c.3012C>G (p.Asp1004Glu) c.2439C>G (p.Asp813Glu) c.2364C>G (p.Asp788Glu) c.1041C>G (p.Asp347Glu) | |
3 | g.38894731G>T | CA352174702 | SCN11A | c.2637C>A (p.Asp879Glu) c.2457C>A (p.Asp819Glu) c.2681C>A (n.2681C>A) c.2256C>A (p.Asp752Glu) c.1974C>A (p.Asp658Glu) c.1185C>A (p.Asp395Glu) c.3012C>A (p.Asp1004Glu) c.2439C>A (p.Asp813Glu) c.2364C>A (p.Asp788Glu) c.1041C>A (p.Asp347Glu) | |
3 | g.38894732T>A | CA352174703 | SCN11A | c.2636A>T (p.Asp879Val) c.2456A>T (p.Asp819Val) c.2680A>T (n.2680A>T) c.2255A>T (p.Asp752Val) c.1973A>T (p.Asp658Val) c.1184A>T (p.Asp395Val) c.3011A>T (p.Asp1004Val) c.2438A>T (p.Asp813Val) c.2363A>T (p.Asp788Val) c.1040A>T (p.Asp347Val) | |
3 | g.38894732T>C | CA352174704 | SCN11A | c.2636A>G (p.Asp879Gly) c.2456A>G (p.Asp819Gly) c.2680A>G (n.2680A>G) c.2255A>G (p.Asp752Gly) c.1973A>G (p.Asp658Gly) c.1184A>G (p.Asp395Gly) c.3011A>G (p.Asp1004Gly) c.2438A>G (p.Asp813Gly) c.2363A>G (p.Asp788Gly) c.1040A>G (p.Asp347Gly) | |
3 | g.38894732T>G | CA352174705 | SCN11A | c.2636A>C (p.Asp879Ala) c.2456A>C (p.Asp819Ala) c.2680A>C (n.2680A>C) c.2255A>C (p.Asp752Ala) c.1973A>C (p.Asp658Ala) c.1184A>C (p.Asp395Ala) c.3011A>C (p.Asp1004Ala) c.2438A>C (p.Asp813Ala) c.2363A>C (p.Asp788Ala) c.1040A>C (p.Asp347Ala) | |
3 | g.38894733del | CA2755906858 | SCN11A | c.2635del (p.Asp879ThrfsTer9) c.2455del (p.Asp819ThrfsTer9) c.2679del (n.2679del) c.2254del (p.Asp752ThrfsTer9) c.1972del (p.Asp658ThrfsTer9) c.1183del (p.Asp395ThrfsTer9) c.3010del (p.Asp1004ThrfsTer9) c.2437del (p.Asp813ThrfsTer9) c.2362del (p.Asp788ThrfsTer9) c.1039del (p.Asp347ThrfsTer9) | |
3 | g.38894733C>A | CA352174706 | SCN11A | c.2635G>T (p.Asp879Tyr) c.2455G>T (p.Asp819Tyr) c.2679G>T (n.2679G>T) c.2254G>T (p.Asp752Tyr) c.1972G>T (p.Asp658Tyr) c.1183G>T (p.Asp395Tyr) c.3010G>T (p.Asp1004Tyr) c.2437G>T (p.Asp813Tyr) c.2362G>T (p.Asp788Tyr) c.1039G>T (p.Asp347Tyr) | gnomAD v4 |
3 | g.38894733C>G | CA352174707 | SCN11A | c.2635G>C (p.Asp879His) c.2455G>C (p.Asp819His) c.2679G>C (n.2679G>C) c.2254G>C (p.Asp752His) c.1972G>C (p.Asp658His) c.1183G>C (p.Asp395His) c.3010G>C (p.Asp1004His) c.2437G>C (p.Asp813His) c.2362G>C (p.Asp788His) c.1039G>C (p.Asp347His) | |
3 | g.38894733C>T | CA352174708 | SCN11A | c.2635G>A (p.Asp879Asn) c.2455G>A (p.Asp819Asn) c.2679G>A (n.2679G>A) c.2254G>A (p.Asp752Asn) c.1972G>A (p.Asp658Asn) c.1183G>A (p.Asp395Asn) c.3010G>A (p.Asp1004Asn) c.2437G>A (p.Asp813Asn) c.2362G>A (p.Asp788Asn) c.1039G>A (p.Asp347Asn) | COSMIC |
3 | g.38894738_38894742del | CA2665127321 | SCN11A | c.2631_2635del (p.Ser877ArgfsTer?) c.2451_2455del (p.Ser817ArgfsTer?) c.2675_2679del (n.2675_2679del) c.2250_2254del (p.Ser750ArgfsTer?) c.1968_1972del (p.Ser656ArgfsTer?) c.1179_1183del (p.Ser393ArgfsTer?) c.3006_3010del (p.Ser1002ArgfsTer?) c.2433_2437del (p.Ser811ArgfsTer?) c.2358_2362del (p.Ser786ArgfsTer?) c.1035_1039del (p.Ser345ArgfsTer?) | gnomAD v4 |
3 | g.38894734T>A | CA352174709 | SCN11A | c.2634A>T (p.Lys878Asn) c.2454A>T (p.Lys818Asn) c.2678A>T (n.2678A>T) c.2253A>T (p.Lys751Asn) c.1971A>T (p.Lys657Asn) c.1182A>T (p.Lys394Asn) c.3009A>T (p.Lys1003Asn) c.2436A>T (p.Lys812Asn) c.2361A>T (p.Lys787Asn) c.1038A>T (p.Lys346Asn) | |
3 | g.38894734T>C | CA433336079 | SCN11A | c.2634A>G (p.Lys878=) c.2454A>G (p.Lys818=) c.2678A>G (n.2678A>G) c.2253A>G (p.Lys751=) c.1971A>G (p.Lys657=) c.1182A>G (p.Lys394=) c.3009A>G (p.Lys1003=) c.2436A>G (p.Lys812=) c.2361A>G (p.Lys787=) c.1038A>G (p.Lys346=) | |
3 | g.38894734T>G | CA352174710 | SCN11A | c.2634A>C (p.Lys878Asn) c.2454A>C (p.Lys818Asn) c.2678A>C (n.2678A>C) c.2253A>C (p.Lys751Asn) c.1971A>C (p.Lys657Asn) c.1182A>C (p.Lys394Asn) c.3009A>C (p.Lys1003Asn) c.2436A>C (p.Lys812Asn) c.2361A>C (p.Lys787Asn) c.1038A>C (p.Lys346Asn) | |
3 | g.38894735T>A | CA352174711 | SCN11A | c.2633A>T (p.Lys878Ile) c.2453A>T (p.Lys818Ile) c.2677A>T (n.2677A>T) c.2252A>T (p.Lys751Ile) c.1970A>T (p.Lys657Ile) c.1181A>T (p.Lys394Ile) c.3008A>T (p.Lys1003Ile) c.2435A>T (p.Lys812Ile) c.2360A>T (p.Lys787Ile) c.1037A>T (p.Lys346Ile) | |
3 | g.38894735T>C | CA352174712 | SCN11A | c.2633A>G (p.Lys878Arg) c.2453A>G (p.Lys818Arg) c.2677A>G (n.2677A>G) c.2252A>G (p.Lys751Arg) c.1970A>G (p.Lys657Arg) c.1181A>G (p.Lys394Arg) c.3008A>G (p.Lys1003Arg) c.2435A>G (p.Lys812Arg) c.2360A>G (p.Lys787Arg) c.1037A>G (p.Lys346Arg) | |
3 | g.38894735T>G | CA352174713 | SCN11A | c.2633A>C (p.Lys878Thr) c.2453A>C (p.Lys818Thr) c.2677A>C (n.2677A>C) c.2252A>C (p.Lys751Thr) c.1970A>C (p.Lys657Thr) c.1181A>C (p.Lys394Thr) c.3008A>C (p.Lys1003Thr) c.2435A>C (p.Lys812Thr) c.2360A>C (p.Lys787Thr) c.1037A>C (p.Lys346Thr) | |
3 | g.38894736T>A | CA352174714 | SCN11A | c.2632A>T (p.Lys878Ter) c.2452A>T (p.Lys818Ter) c.2676A>T (n.2676A>T) c.2251A>T (p.Lys751Ter) c.1969A>T (p.Lys657Ter) c.1180A>T (p.Lys394Ter) c.3007A>T (p.Lys1003Ter) c.2434A>T (p.Lys812Ter) c.2359A>T (p.Lys787Ter) c.1036A>T (p.Lys346Ter) | dbSNP |
3 | g.38894736T>C | CA352174715 | SCN11A | c.2632A>G (p.Lys878Glu) c.2452A>G (p.Lys818Glu) c.2676A>G (n.2676A>G) c.2251A>G (p.Lys751Glu) c.1969A>G (p.Lys657Glu) c.1180A>G (p.Lys394Glu) c.3007A>G (p.Lys1003Glu) c.2434A>G (p.Lys812Glu) c.2359A>G (p.Lys787Glu) c.1036A>G (p.Lys346Glu) | |
3 | g.38894736T>G | CA352174716 | SCN11A | c.2632A>C (p.Lys878Gln) c.2452A>C (p.Lys818Gln) c.2676A>C (n.2676A>C) c.2251A>C (p.Lys751Gln) c.1969A>C (p.Lys657Gln) c.1180A>C (p.Lys394Gln) c.3007A>C (p.Lys1003Gln) c.2434A>C (p.Lys812Gln) c.2359A>C (p.Lys787Gln) c.1036A>C (p.Lys346Gln) | |
3 | g.38894736T= | CA1358718195 | SCN11A | c.2632A= (p.Lys878=) c.2452A= (p.Lys818=) c.2676A= (n.2676A=) c.2251A= (p.Lys751=) c.1969A= (p.Lys657=) c.1180A= (p.Lys394=) c.3007A= (p.Lys1003=) c.2434A= (p.Lys812=) c.2359A= (p.Lys787=) c.1036A= (p.Lys346=) | |
3 | g.38894737G>A | CA433336081 | SCN11A | c.2631C>T (p.Ser877=) c.2451C>T (p.Ser817=) c.2675C>T (n.2675C>T) c.2250C>T (p.Ser750=) c.1968C>T (p.Ser656=) c.1179C>T (p.Ser393=) c.3006C>T (p.Ser1002=) c.2433C>T (p.Ser811=) c.2358C>T (p.Ser786=) c.1035C>T (p.Ser345=) | |
3 | g.38894737G>C | CA352174717 | SCN11A | c.2631C>G (p.Ser877Arg) c.2451C>G (p.Ser817Arg) c.2675C>G (n.2675C>G) c.2250C>G (p.Ser750Arg) c.1968C>G (p.Ser656Arg) c.1179C>G (p.Ser393Arg) c.3006C>G (p.Ser1002Arg) c.2433C>G (p.Ser811Arg) c.2358C>G (p.Ser786Arg) c.1035C>G (p.Ser345Arg) | gnomAD v4 |
3 | g.38894737G>T | CA352174718 | SCN11A | c.2631C>A (p.Ser877Arg) c.2451C>A (p.Ser817Arg) c.2675C>A (n.2675C>A) c.2250C>A (p.Ser750Arg) c.1968C>A (p.Ser656Arg) c.1179C>A (p.Ser393Arg) c.3006C>A (p.Ser1002Arg) c.2433C>A (p.Ser811Arg) c.2358C>A (p.Ser786Arg) c.1035C>A (p.Ser345Arg) | |
3 | g.38894738C>A | CA352174719 | SCN11A | c.2630G>T (p.Ser877Ile) c.2450G>T (p.Ser817Ile) c.2674G>T (n.2674G>T) c.2249G>T (p.Ser750Ile) c.1967G>T (p.Ser656Ile) c.1178G>T (p.Ser393Ile) c.3005G>T (p.Ser1002Ile) c.2432G>T (p.Ser811Ile) c.2357G>T (p.Ser786Ile) c.1034G>T (p.Ser345Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38894738C= | CA1358718196 | SCN11A | c.2630G= (p.Ser877=) c.2450G= (p.Ser817=) c.2674G= (n.2674G=) c.2249G= (p.Ser750=) c.1967G= (p.Ser656=) c.1178G= (p.Ser393=) c.3005G= (p.Ser1002=) c.2432G= (p.Ser811=) c.2357G= (p.Ser786=) c.1034G= (p.Ser345=) | |
3 | g.38894738C>G | CA352174720 | SCN11A | c.2630G>C (p.Ser877Thr) c.2450G>C (p.Ser817Thr) c.2674G>C (n.2674G>C) c.2249G>C (p.Ser750Thr) c.1967G>C (p.Ser656Thr) c.1178G>C (p.Ser393Thr) c.3005G>C (p.Ser1002Thr) c.2432G>C (p.Ser811Thr) c.2357G>C (p.Ser786Thr) c.1034G>C (p.Ser345Thr) | |
3 | g.38894738C>T | CA352174721 | SCN11A | c.2630G>A (p.Ser877Asn) c.2450G>A (p.Ser817Asn) c.2674G>A (n.2674G>A) c.2249G>A (p.Ser750Asn) c.1967G>A (p.Ser656Asn) c.1178G>A (p.Ser393Asn) c.3005G>A (p.Ser1002Asn) c.2432G>A (p.Ser811Asn) c.2357G>A (p.Ser786Asn) c.1034G>A (p.Ser345Asn) | gnomAD v4 |
3 | g.38894739T>A | CA352174723 | SCN11A | c.2629A>T (p.Ser877Cys) c.2449A>T (p.Ser817Cys) c.2673A>T (n.2673A>T) c.2248A>T (p.Ser750Cys) c.1966A>T (p.Ser656Cys) c.1177A>T (p.Ser393Cys) c.3004A>T (p.Ser1002Cys) c.2431A>T (p.Ser811Cys) c.2356A>T (p.Ser786Cys) c.1033A>T (p.Ser345Cys) | |
3 | g.38894739T>C | CA352174724 | SCN11A | c.2629A>G (p.Ser877Gly) c.2449A>G (p.Ser817Gly) c.2673A>G (n.2673A>G) c.2248A>G (p.Ser750Gly) c.1966A>G (p.Ser656Gly) c.1177A>G (p.Ser393Gly) c.3004A>G (p.Ser1002Gly) c.2431A>G (p.Ser811Gly) c.2356A>G (p.Ser786Gly) c.1033A>G (p.Ser345Gly) | gnomAD v4 |
3 | g.38894739T>G | CA352174722 | SCN11A | c.2629A>C (p.Ser877Arg) c.2449A>C (p.Ser817Arg) c.2673A>C (n.2673A>C) c.2248A>C (p.Ser750Arg) c.1966A>C (p.Ser656Arg) c.1177A>C (p.Ser393Arg) c.3004A>C (p.Ser1002Arg) c.2431A>C (p.Ser811Arg) c.2356A>C (p.Ser786Arg) c.1033A>C (p.Ser345Arg) | |
3 | g.38894740T>A | CA352174726 | SCN11A | c.2628A>T (p.Gln876His) c.2448A>T (p.Gln816His) c.2672A>T (n.2672A>T) c.2247A>T (p.Gln749His) c.1965A>T (p.Gln655His) c.1176A>T (p.Gln392His) c.3003A>T (p.Gln1001His) c.2430A>T (p.Gln810His) c.2355A>T (p.Gln785His) c.1032A>T (p.Gln344His) | |
3 | g.38894740T>C | CA433336084 | SCN11A | c.2628A>G (p.Gln876=) c.2448A>G (p.Gln816=) c.2672A>G (n.2672A>G) c.2247A>G (p.Gln749=) c.1965A>G (p.Gln655=) c.1176A>G (p.Gln392=) c.3003A>G (p.Gln1001=) c.2430A>G (p.Gln810=) c.2355A>G (p.Gln785=) c.1032A>G (p.Gln344=) | |
3 | g.38894740T>G | CA352174725 | SCN11A | c.2628A>C (p.Gln876His) c.2448A>C (p.Gln816His) c.2672A>C (n.2672A>C) c.2247A>C (p.Gln749His) c.1965A>C (p.Gln655His) c.1176A>C (p.Gln392His) c.3003A>C (p.Gln1001His) c.2430A>C (p.Gln810His) c.2355A>C (p.Gln785His) c.1032A>C (p.Gln344His) | |
3 | g.38894741T>A | CA352174727 | SCN11A | c.2627A>T (p.Gln876Leu) c.2447A>T (p.Gln816Leu) c.2671A>T (n.2671A>T) c.2246A>T (p.Gln749Leu) c.1964A>T (p.Gln655Leu) c.1175A>T (p.Gln392Leu) c.3002A>T (p.Gln1001Leu) c.2429A>T (p.Gln810Leu) c.2354A>T (p.Gln785Leu) c.1031A>T (p.Gln344Leu) | |
3 | g.38894741T>C | CA352174728 | SCN11A | c.2627A>G (p.Gln876Arg) c.2447A>G (p.Gln816Arg) c.2671A>G (n.2671A>G) c.2246A>G (p.Gln749Arg) c.1964A>G (p.Gln655Arg) c.1175A>G (p.Gln392Arg) c.3002A>G (p.Gln1001Arg) c.2429A>G (p.Gln810Arg) c.2354A>G (p.Gln785Arg) c.1031A>G (p.Gln344Arg) | |
3 | g.38894741T>G | CA352174729 | SCN11A | c.2627A>C (p.Gln876Pro) c.2447A>C (p.Gln816Pro) c.2671A>C (n.2671A>C) c.2246A>C (p.Gln749Pro) c.1964A>C (p.Gln655Pro) c.1175A>C (p.Gln392Pro) c.3002A>C (p.Gln1001Pro) c.2429A>C (p.Gln810Pro) c.2354A>C (p.Gln785Pro) c.1031A>C (p.Gln344Pro) | |
3 | g.38894742G>A | CA352174730 | SCN11A | c.2626C>T (p.Gln876Ter) c.2446C>T (p.Gln816Ter) c.2670C>T (n.2670C>T) c.2245C>T (p.Gln749Ter) c.1963C>T (p.Gln655Ter) c.1174C>T (p.Gln392Ter) c.3001C>T (p.Gln1001Ter) c.2428C>T (p.Gln810Ter) c.2353C>T (p.Gln785Ter) c.1030C>T (p.Gln344Ter) | dbSNP |
3 | g.38894742G>C | CA352174731 | SCN11A | c.2626C>G (p.Gln876Glu) c.2446C>G (p.Gln816Glu) c.2670C>G (n.2670C>G) c.2245C>G (p.Gln749Glu) c.1963C>G (p.Gln655Glu) c.1174C>G (p.Gln392Glu) c.3001C>G (p.Gln1001Glu) c.2428C>G (p.Gln810Glu) c.2353C>G (p.Gln785Glu) c.1030C>G (p.Gln344Glu) | |
3 | g.38894742G= | CA1358718197 | SCN11A | c.2626C= (p.Gln876=) c.2446C= (p.Gln816=) c.2670C= (n.2670C=) c.2245C= (p.Gln749=) c.1963C= (p.Gln655=) c.1174C= (p.Gln392=) c.3001C= (p.Gln1001=) c.2428C= (p.Gln810=) c.2353C= (p.Gln785=) c.1030C= (p.Gln344=) | |
3 | g.38894742G>T | CA352174732 | SCN11A | c.2626C>A (p.Gln876Lys) c.2446C>A (p.Gln816Lys) c.2670C>A (n.2670C>A) c.2245C>A (p.Gln749Lys) c.1963C>A (p.Gln655Lys) c.1174C>A (p.Gln392Lys) c.3001C>A (p.Gln1001Lys) c.2428C>A (p.Gln810Lys) c.2353C>A (p.Gln785Lys) c.1030C>A (p.Gln344Lys) | |
3 | g.38894743T>A | CA433336086 | SCN11A | c.2625A>T (p.Ala875=) c.2445A>T (p.Ala815=) c.2669A>T (n.2669A>T) c.2244A>T (p.Ala748=) c.1962A>T (p.Ala654=) c.1173A>T (p.Ala391=) c.3000A>T (p.Ala1000=) c.2427A>T (p.Ala809=) c.2352A>T (p.Ala784=) c.1029A>T (p.Ala343=) | |
3 | g.38894743T>C | CA433336087 | SCN11A | c.2625A>G (p.Ala875=) c.2445A>G (p.Ala815=) c.2669A>G (n.2669A>G) c.2244A>G (p.Ala748=) c.1962A>G (p.Ala654=) c.1173A>G (p.Ala391=) c.3000A>G (p.Ala1000=) c.2427A>G (p.Ala809=) c.2352A>G (p.Ala784=) c.1029A>G (p.Ala343=) | dbSNP |
3 | g.38894743T>G | CA433336088 | SCN11A | c.2625A>C (p.Ala875=) c.2445A>C (p.Ala815=) c.2669A>C (n.2669A>C) c.2244A>C (p.Ala748=) c.1962A>C (p.Ala654=) c.1173A>C (p.Ala391=) c.3000A>C (p.Ala1000=) c.2427A>C (p.Ala809=) c.2352A>C (p.Ala784=) c.1029A>C (p.Ala343=) | |
3 | g.38894743T= | CA1358718198 | SCN11A | c.2625A= (p.Ala875=) c.2445A= (p.Ala815=) c.2669A= (n.2669A=) c.2244A= (p.Ala748=) c.1962A= (p.Ala654=) c.1173A= (p.Ala391=) c.3000A= (p.Ala1000=) c.2427A= (p.Ala809=) c.2352A= (p.Ala784=) c.1029A= (p.Ala343=) | |
3 | g.38894744G>A | CA352174733 | SCN11A | c.2624C>T (p.Ala875Val) c.2444C>T (p.Ala815Val) c.2668C>T (n.2668C>T) c.2243C>T (p.Ala748Val) c.1961C>T (p.Ala654Val) c.1172C>T (p.Ala391Val) c.2999C>T (p.Ala1000Val) c.2426C>T (p.Ala809Val) c.2351C>T (p.Ala784Val) c.1028C>T (p.Ala343Val) | |
3 | g.38894744G>C | CA352174734 | SCN11A | c.2624C>G (p.Ala875Gly) c.2444C>G (p.Ala815Gly) c.2668C>G (n.2668C>G) c.2243C>G (p.Ala748Gly) c.1961C>G (p.Ala654Gly) c.1172C>G (p.Ala391Gly) c.2999C>G (p.Ala1000Gly) c.2426C>G (p.Ala809Gly) c.2351C>G (p.Ala784Gly) c.1028C>G (p.Ala343Gly) | |
3 | g.38894744G>T | CA352174735 | SCN11A | c.2624C>A (p.Ala875Glu) c.2444C>A (p.Ala815Glu) c.2668C>A (n.2668C>A) c.2243C>A (p.Ala748Glu) c.1961C>A (p.Ala654Glu) c.1172C>A (p.Ala391Glu) c.2999C>A (p.Ala1000Glu) c.2426C>A (p.Ala809Glu) c.2351C>A (p.Ala784Glu) c.1028C>A (p.Ala343Glu) | |
3 | g.38894745C>A | CA352174736 | SCN11A | c.2623G>T (p.Ala875Ser) c.2443G>T (p.Ala815Ser) c.2667G>T (n.2667G>T) c.2242G>T (p.Ala748Ser) c.1960G>T (p.Ala654Ser) c.1171G>T (p.Ala391Ser) c.2998G>T (p.Ala1000Ser) c.2425G>T (p.Ala809Ser) c.2350G>T (p.Ala784Ser) c.1027G>T (p.Ala343Ser) | |
3 | g.38894745C>G | CA352174737 | SCN11A | c.2623G>C (p.Ala875Pro) c.2443G>C (p.Ala815Pro) c.2667G>C (n.2667G>C) c.2242G>C (p.Ala748Pro) c.1960G>C (p.Ala654Pro) c.1171G>C (p.Ala391Pro) c.2998G>C (p.Ala1000Pro) c.2425G>C (p.Ala809Pro) c.2350G>C (p.Ala784Pro) c.1027G>C (p.Ala343Pro) | |
3 | g.38894745C>T | CA352174738 | SCN11A | c.2623G>A (p.Ala875Thr) c.2443G>A (p.Ala815Thr) c.2667G>A (n.2667G>A) c.2242G>A (p.Ala748Thr) c.1960G>A (p.Ala654Thr) c.1171G>A (p.Ala391Thr) c.2998G>A (p.Ala1000Thr) c.2425G>A (p.Ala809Thr) c.2350G>A (p.Ala784Thr) c.1027G>A (p.Ala343Thr) | |
3 | g.38894746A>C | CA433336089 | SCN11A | c.2622T>G (p.Ala874=) c.2442T>G (p.Ala814=) c.2666T>G (n.2666T>G) c.2241T>G (p.Ala747=) c.1959T>G (p.Ala653=) c.1170T>G (p.Ala390=) c.2997T>G (p.Ala999=) c.2424T>G (p.Ala808=) c.2349T>G (p.Ala783=) c.1026T>G (p.Ala342=) | |
3 | g.38894746A>G | CA433336090 | SCN11A | c.2622T>C (p.Ala874=) c.2442T>C (p.Ala814=) c.2666T>C (n.2666T>C) c.2241T>C (p.Ala747=) c.1959T>C (p.Ala653=) c.1170T>C (p.Ala390=) c.2997T>C (p.Ala999=) c.2424T>C (p.Ala808=) c.2349T>C (p.Ala783=) c.1026T>C (p.Ala342=) | |
3 | g.38894746A>T | CA433336091 | SCN11A | c.2622T>A (p.Ala874=) c.2442T>A (p.Ala814=) c.2666T>A (n.2666T>A) c.2241T>A (p.Ala747=) c.1959T>A (p.Ala653=) c.1170T>A (p.Ala390=) c.2997T>A (p.Ala999=) c.2424T>A (p.Ala808=) c.2349T>A (p.Ala783=) c.1026T>A (p.Ala342=) | |
3 | g.38894747G>A | CA352174741 | SCN11A | c.2621C>T (p.Ala874Val) c.2441C>T (p.Ala814Val) c.2665C>T (n.2665C>T) c.2240C>T (p.Ala747Val) c.1958C>T (p.Ala653Val) c.1169C>T (p.Ala390Val) c.2996C>T (p.Ala999Val) c.2423C>T (p.Ala808Val) c.2348C>T (p.Ala783Val) c.1025C>T (p.Ala342Val) | |
3 | g.38894747G>C | CA352174739 | SCN11A | c.2621C>G (p.Ala874Gly) c.2441C>G (p.Ala814Gly) c.2665C>G (n.2665C>G) c.2240C>G (p.Ala747Gly) c.1958C>G (p.Ala653Gly) c.1169C>G (p.Ala390Gly) c.2996C>G (p.Ala999Gly) c.2423C>G (p.Ala808Gly) c.2348C>G (p.Ala783Gly) c.1025C>G (p.Ala342Gly) | |
3 | g.38894747G>T | CA352174740 | SCN11A | c.2621C>A (p.Ala874Asp) c.2441C>A (p.Ala814Asp) c.2665C>A (n.2665C>A) c.2240C>A (p.Ala747Asp) c.1958C>A (p.Ala653Asp) c.1169C>A (p.Ala390Asp) c.2996C>A (p.Ala999Asp) c.2423C>A (p.Ala808Asp) c.2348C>A (p.Ala783Asp) c.1025C>A (p.Ala342Asp) | |
3 | g.38894748C>A | CA352174742 | SCN11A | c.2620G>T (p.Ala874Ser) c.2440G>T (p.Ala814Ser) c.2664G>T (n.2664G>T) c.2239G>T (p.Ala747Ser) c.1957G>T (p.Ala653Ser) c.1168G>T (p.Ala390Ser) c.2995G>T (p.Ala999Ser) c.2422G>T (p.Ala808Ser) c.2347G>T (p.Ala783Ser) c.1024G>T (p.Ala342Ser) | |
3 | g.38894748C= | CA1358718199 | SCN11A | c.2620G= (p.Ala874=) c.2440G= (p.Ala814=) c.2664G= (n.2664G=) c.2239G= (p.Ala747=) c.1957G= (p.Ala653=) c.1168G= (p.Ala390=) c.2995G= (p.Ala999=) c.2422G= (p.Ala808=) c.2347G= (p.Ala783=) c.1024G= (p.Ala342=) | |
3 | g.38894748C>G | CA352174743 | SCN11A | c.2620G>C (p.Ala874Pro) c.2440G>C (p.Ala814Pro) c.2664G>C (n.2664G>C) c.2239G>C (p.Ala747Pro) c.1957G>C (p.Ala653Pro) c.1168G>C (p.Ala390Pro) c.2995G>C (p.Ala999Pro) c.2422G>C (p.Ala808Pro) c.2347G>C (p.Ala783Pro) c.1024G>C (p.Ala342Pro) | |
3 | g.38894748C>T | CA352174744 | SCN11A | c.2620G>A (p.Ala874Thr) c.2440G>A (p.Ala814Thr) c.2664G>A (n.2664G>A) c.2239G>A (p.Ala747Thr) c.1957G>A (p.Ala653Thr) c.1168G>A (p.Ala390Thr) c.2995G>A (p.Ala999Thr) c.2422G>A (p.Ala808Thr) c.2347G>A (p.Ala783Thr) c.1024G>A (p.Ala342Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.38894749A= | CA1358718200 | SCN11A | c.2619T= (p.Cys873=) c.2439T= (p.Cys813=) c.2663T= (n.2663T=) c.2238T= (p.Cys746=) c.1956T= (p.Cys652=) c.1167T= (p.Cys389=) c.2994T= (p.Cys998=) c.2421T= (p.Cys807=) c.2346T= (p.Cys782=) c.1023T= (p.Cys341=) | |
3 | g.38894749A>C | CA352174745 | SCN11A | c.2619T>G (p.Cys873Trp) c.2439T>G (p.Cys813Trp) c.2663T>G (n.2663T>G) c.2238T>G (p.Cys746Trp) c.1956T>G (p.Cys652Trp) c.1167T>G (p.Cys389Trp) c.2994T>G (p.Cys998Trp) c.2421T>G (p.Cys807Trp) c.2346T>G (p.Cys782Trp) c.1023T>G (p.Cys341Trp) | |
3 | g.38894749A>G | CA433336095 | SCN11A | c.2619T>C (p.Cys873=) c.2439T>C (p.Cys813=) c.2663T>C (n.2663T>C) c.2238T>C (p.Cys746=) c.1956T>C (p.Cys652=) c.1167T>C (p.Cys389=) c.2994T>C (p.Cys998=) c.2421T>C (p.Cys807=) c.2346T>C (p.Cys782=) c.1023T>C (p.Cys341=) | |
3 | g.38894749A>T | CA352174746 | SCN11A | c.2619T>A (p.Cys873Ter) c.2439T>A (p.Cys813Ter) c.2663T>A (n.2663T>A) c.2238T>A (p.Cys746Ter) c.1956T>A (p.Cys652Ter) c.1167T>A (p.Cys389Ter) c.2994T>A (p.Cys998Ter) c.2421T>A (p.Cys807Ter) c.2346T>A (p.Cys782Ter) c.1023T>A (p.Cys341Ter) | dbSNP |
3 | g.38894750C>A | CA352174747 | SCN11A | c.2618G>T (p.Cys873Phe) c.2438G>T (p.Cys813Phe) c.2662G>T (n.2662G>T) c.2237G>T (p.Cys746Phe) c.1955G>T (p.Cys652Phe) c.1166G>T (p.Cys389Phe) c.2993G>T (p.Cys998Phe) c.2420G>T (p.Cys807Phe) c.2345G>T (p.Cys782Phe) c.1022G>T (p.Cys341Phe) | |
3 | g.38894750C= | CA1358718201 | SCN11A | c.2618G= (p.Cys873=) c.2438G= (p.Cys813=) c.2662G= (n.2662G=) c.2237G= (p.Cys746=) c.1955G= (p.Cys652=) c.1166G= (p.Cys389=) c.2993G= (p.Cys998=) c.2420G= (p.Cys807=) c.2345G= (p.Cys782=) c.1022G= (p.Cys341=) | |
3 | g.38894750C>G | CA2322006 | SCN11A | c.2618G>C (p.Cys873Ser) c.2438G>C (p.Cys813Ser) c.2662G>C (n.2662G>C) c.2237G>C (p.Cys746Ser) c.1955G>C (p.Cys652Ser) c.1166G>C (p.Cys389Ser) c.2993G>C (p.Cys998Ser) c.2420G>C (p.Cys807Ser) c.2345G>C (p.Cys782Ser) c.1022G>C (p.Cys341Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38894750C>T | CA2322005 | SCN11A | c.2618G>A (p.Cys873Tyr) c.2438G>A (p.Cys813Tyr) c.2662G>A (n.2662G>A) c.2237G>A (p.Cys746Tyr) c.1955G>A (p.Cys652Tyr) c.1166G>A (p.Cys389Tyr) c.2993G>A (p.Cys998Tyr) c.2420G>A (p.Cys807Tyr) c.2345G>A (p.Cys782Tyr) c.1022G>A (p.Cys341Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.38894751A= | CA1358718202 | SCN11A | c.2617T= (p.Cys873=) c.2437T= (p.Cys813=) c.2661T= (n.2661T=) c.2236T= (p.Cys746=) c.1954T= (p.Cys652=) c.1165T= (p.Cys389=) c.2992T= (p.Cys998=) c.2419T= (p.Cys807=) c.2344T= (p.Cys782=) c.1021T= (p.Cys341=) | |
3 | g.38894751A>C | CA2322007 | SCN11A | c.2617T>G (p.Cys873Gly) c.2437T>G (p.Cys813Gly) c.2661T>G (n.2661T>G) c.2236T>G (p.Cys746Gly) c.1954T>G (p.Cys652Gly) c.1165T>G (p.Cys389Gly) c.2992T>G (p.Cys998Gly) c.2419T>G (p.Cys807Gly) c.2344T>G (p.Cys782Gly) c.1021T>G (p.Cys341Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38894751A>G | CA352174748 | SCN11A | c.2617T>C (p.Cys873Arg) c.2437T>C (p.Cys813Arg) c.2661T>C (n.2661T>C) c.2236T>C (p.Cys746Arg) c.1954T>C (p.Cys652Arg) c.1165T>C (p.Cys389Arg) c.2992T>C (p.Cys998Arg) c.2419T>C (p.Cys807Arg) c.2344T>C (p.Cys782Arg) c.1021T>C (p.Cys341Arg) | |
3 | g.38894751A>T | CA352174749 | SCN11A | c.2617T>A (p.Cys873Ser) c.2437T>A (p.Cys813Ser) c.2661T>A (n.2661T>A) c.2236T>A (p.Cys746Ser) c.1954T>A (p.Cys652Ser) c.1165T>A (p.Cys389Ser) c.2992T>A (p.Cys998Ser) c.2419T>A (p.Cys807Ser) c.2344T>A (p.Cys782Ser) c.1021T>A (p.Cys341Ser) | |
3 | g.38894752G>A | CA433336100 | SCN11A | c.2616C>T (p.Gly872=) c.2436C>T (p.Gly812=) c.2660C>T (n.2660C>T) c.2235C>T (p.Gly745=) c.1953C>T (p.Gly651=) c.1164C>T (p.Gly388=) c.2991C>T (p.Gly997=) c.2418C>T (p.Gly806=) c.2343C>T (p.Gly781=) c.1020C>T (p.Gly340=) | gnomAD v4 |
3 | g.38894752G>C | CA433336102 | SCN11A | c.2616C>G (p.Gly872=) c.2436C>G (p.Gly812=) c.2660C>G (n.2660C>G) c.2235C>G (p.Gly745=) c.1953C>G (p.Gly651=) c.1164C>G (p.Gly388=) c.2991C>G (p.Gly997=) c.2418C>G (p.Gly806=) c.2343C>G (p.Gly781=) c.1020C>G (p.Gly340=) | dbSNP gnomAD v4 |
3 | g.38894752G= | CA1358718203 | SCN11A | c.2616C= (p.Gly872=) c.2436C= (p.Gly812=) c.2660C= (n.2660C=) c.2235C= (p.Gly745=) c.1953C= (p.Gly651=) c.1164C= (p.Gly388=) c.2991C= (p.Gly997=) c.2418C= (p.Gly806=) c.2343C= (p.Gly781=) c.1020C= (p.Gly340=) | |
3 | g.38894752G>T | CA433336101 | SCN11A | c.2616C>A (p.Gly872=) c.2436C>A (p.Gly812=) c.2660C>A (n.2660C>A) c.2235C>A (p.Gly745=) c.1953C>A (p.Gly651=) c.1164C>A (p.Gly388=) c.2991C>A (p.Gly997=) c.2418C>A (p.Gly806=) c.2343C>A (p.Gly781=) c.1020C>A (p.Gly340=) | |
3 | g.38894753C>A | CA2322008 | SCN11A | c.2615G>T (p.Gly872Val) c.2435G>T (p.Gly812Val) c.2659G>T (n.2659G>T) c.2234G>T (p.Gly745Val) c.1952G>T (p.Gly651Val) c.1163G>T (p.Gly388Val) c.2990G>T (p.Gly997Val) c.2417G>T (p.Gly806Val) c.2342G>T (p.Gly781Val) c.1019G>T (p.Gly340Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38894753C= | CA1358718204 | SCN11A | c.2615G= (p.Gly872=) c.2435G= (p.Gly812=) c.2659G= (n.2659G=) c.2234G= (p.Gly745=) c.1952G= (p.Gly651=) c.1163G= (p.Gly388=) c.2990G= (p.Gly997=) c.2417G= (p.Gly806=) c.2342G= (p.Gly781=) c.1019G= (p.Gly340=) | |
3 | g.38894753C>G | CA352174751 | SCN11A | c.2615G>C (p.Gly872Ala) c.2435G>C (p.Gly812Ala) c.2659G>C (n.2659G>C) c.2234G>C (p.Gly745Ala) c.1952G>C (p.Gly651Ala) c.1163G>C (p.Gly388Ala) c.2990G>C (p.Gly997Ala) c.2417G>C (p.Gly806Ala) c.2342G>C (p.Gly781Ala) c.1019G>C (p.Gly340Ala) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38894753C>T | CA352174750 | SCN11A | c.2615G>A (p.Gly872Asp) c.2435G>A (p.Gly812Asp) c.2659G>A (n.2659G>A) c.2234G>A (p.Gly745Asp) c.1952G>A (p.Gly651Asp) c.1163G>A (p.Gly388Asp) c.2990G>A (p.Gly997Asp) c.2417G>A (p.Gly806Asp) c.2342G>A (p.Gly781Asp) c.1019G>A (p.Gly340Asp) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38894754C>A | CA352174752 | SCN11A | c.2614G>T (p.Gly872Cys) c.2434G>T (p.Gly812Cys) c.2658G>T (n.2658G>T) c.2233G>T (p.Gly745Cys) c.1951G>T (p.Gly651Cys) c.1162G>T (p.Gly388Cys) c.2989G>T (p.Gly997Cys) c.2416G>T (p.Gly806Cys) c.2341G>T (p.Gly781Cys) c.1018G>T (p.Gly340Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894754C= | CA1358718205 | SCN11A | c.2614G= (p.Gly872=) c.2434G= (p.Gly812=) c.2658G= (n.2658G=) c.2233G= (p.Gly745=) c.1951G= (p.Gly651=) c.1162G= (p.Gly388=) c.2989G= (p.Gly997=) c.2416G= (p.Gly806=) c.2341G= (p.Gly781=) c.1018G= (p.Gly340=) | |
3 | g.38894754C>G | CA352174753 | SCN11A | c.2614G>C (p.Gly872Arg) c.2434G>C (p.Gly812Arg) c.2658G>C (n.2658G>C) c.2233G>C (p.Gly745Arg) c.1951G>C (p.Gly651Arg) c.1162G>C (p.Gly388Arg) c.2989G>C (p.Gly997Arg) c.2416G>C (p.Gly806Arg) c.2341G>C (p.Gly781Arg) c.1018G>C (p.Gly340Arg) | |
3 | g.38894754C>T | CA352174754 | SCN11A | c.2614G>A (p.Gly872Ser) c.2434G>A (p.Gly812Ser) c.2658G>A (n.2658G>A) c.2233G>A (p.Gly745Ser) c.1951G>A (p.Gly651Ser) c.1162G>A (p.Gly388Ser) c.2989G>A (p.Gly997Ser) c.2416G>A (p.Gly806Ser) c.2341G>A (p.Gly781Ser) c.1018G>A (p.Gly340Ser) | |
3 | g.38894755T>A | CA433336103 | SCN11A | c.2613A>T (p.Gly871=) c.2433A>T (p.Gly811=) c.2657A>T (n.2657A>T) c.2232A>T (p.Gly744=) c.1950A>T (p.Gly650=) c.1161A>T (p.Gly387=) c.2988A>T (p.Gly996=) c.2415A>T (p.Gly805=) c.2340A>T (p.Gly780=) c.1017A>T (p.Gly339=) | |
3 | g.38894755T>C | CA433336104 | SCN11A | c.2613A>G (p.Gly871=) c.2433A>G (p.Gly811=) c.2657A>G (n.2657A>G) c.2232A>G (p.Gly744=) c.1950A>G (p.Gly650=) c.1161A>G (p.Gly387=) c.2988A>G (p.Gly996=) c.2415A>G (p.Gly805=) c.2340A>G (p.Gly780=) c.1017A>G (p.Gly339=) | |
3 | g.38894755T>G | CA433336105 | SCN11A | c.2613A>C (p.Gly871=) c.2433A>C (p.Gly811=) c.2657A>C (n.2657A>C) c.2232A>C (p.Gly744=) c.1950A>C (p.Gly650=) c.1161A>C (p.Gly387=) c.2988A>C (p.Gly996=) c.2415A>C (p.Gly805=) c.2340A>C (p.Gly780=) c.1017A>C (p.Gly339=) | |
3 | g.38894756C>A | CA352174755 | SCN11A | c.2612G>T (p.Gly871Val) c.2432G>T (p.Gly811Val) c.2656G>T (n.2656G>T) c.2231G>T (p.Gly744Val) c.1949G>T (p.Gly650Val) c.1160G>T (p.Gly387Val) c.2987G>T (p.Gly996Val) c.2414G>T (p.Gly805Val) c.2339G>T (p.Gly780Val) c.1016G>T (p.Gly339Val) | |
3 | g.38894756C= | CA1358718206 | SCN11A | c.2612G= (p.Gly871=) c.2432G= (p.Gly811=) c.2656G= (n.2656G=) c.2231G= (p.Gly744=) c.1949G= (p.Gly650=) c.1160G= (p.Gly387=) c.2987G= (p.Gly996=) c.2414G= (p.Gly805=) c.2339G= (p.Gly780=) c.1016G= (p.Gly339=) | |
3 | g.38894756C>G | CA352174756 | SCN11A | c.2612G>C (p.Gly871Ala) c.2432G>C (p.Gly811Ala) c.2656G>C (n.2656G>C) c.2231G>C (p.Gly744Ala) c.1949G>C (p.Gly650Ala) c.1160G>C (p.Gly387Ala) c.2987G>C (p.Gly996Ala) c.2414G>C (p.Gly805Ala) c.2339G>C (p.Gly780Ala) c.1016G>C (p.Gly339Ala) | |
3 | g.38894756C>T | CA352174757 | SCN11A | c.2612G>A (p.Gly871Glu) c.2432G>A (p.Gly811Glu) c.2656G>A (n.2656G>A) c.2231G>A (p.Gly744Glu) c.1949G>A (p.Gly650Glu) c.1160G>A (p.Gly387Glu) c.2987G>A (p.Gly996Glu) c.2414G>A (p.Gly805Glu) c.2339G>A (p.Gly780Glu) c.1016G>A (p.Gly339Glu) | dbSNP gnomAD v4 |
3 | g.38894757C>A | CA352174758 | SCN11A | c.2611G>T (p.Gly871Ter) c.2431G>T (p.Gly811Ter) c.2655G>T (n.2655G>T) c.2230G>T (p.Gly744Ter) c.1948G>T (p.Gly650Ter) c.1159G>T (p.Gly387Ter) c.2986G>T (p.Gly996Ter) c.2413G>T (p.Gly805Ter) c.2338G>T (p.Gly780Ter) c.1015G>T (p.Gly339Ter) | dbSNP |
3 | g.38894757C= | CA1358718207 | SCN11A | c.2611G= (p.Gly871=) c.2431G= (p.Gly811=) c.2655G= (n.2655G=) c.2230G= (p.Gly744=) c.1948G= (p.Gly650=) c.1159G= (p.Gly387=) c.2986G= (p.Gly996=) c.2413G= (p.Gly805=) c.2338G= (p.Gly780=) c.1015G= (p.Gly339=) | |
3 | g.38894757C>G | CA352174759 | SCN11A | c.2611G>C (p.Gly871Arg) c.2431G>C (p.Gly811Arg) c.2655G>C (n.2655G>C) c.2230G>C (p.Gly744Arg) c.1948G>C (p.Gly650Arg) c.1159G>C (p.Gly387Arg) c.2986G>C (p.Gly996Arg) c.2413G>C (p.Gly805Arg) c.2338G>C (p.Gly780Arg) c.1015G>C (p.Gly339Arg) | |
3 | g.38894757C>T | CA352174760 | SCN11A | c.2611G>A (p.Gly871Arg) c.2431G>A (p.Gly811Arg) c.2655G>A (n.2655G>A) c.2230G>A (p.Gly744Arg) c.1948G>A (p.Gly650Arg) c.1159G>A (p.Gly387Arg) c.2986G>A (p.Gly996Arg) c.2413G>A (p.Gly805Arg) c.2338G>A (p.Gly780Arg) c.1015G>A (p.Gly339Arg) | dbSNP gnomAD v4 |
3 | g.38894758T>A | CA433336106 | SCN11A | c.2610A>T (p.Ala870=) c.2430A>T (p.Ala810=) c.2654A>T (n.2654A>T) c.2229A>T (p.Ala743=) c.1947A>T (p.Ala649=) c.1158A>T (p.Ala386=) c.2985A>T (p.Ala995=) c.2412A>T (p.Ala804=) c.2337A>T (p.Ala779=) c.1014A>T (p.Ala338=) | |
3 | g.38894758T>C | CA433336107 | SCN11A | c.2610A>G (p.Ala870=) c.2430A>G (p.Ala810=) c.2654A>G (n.2654A>G) c.2229A>G (p.Ala743=) c.1947A>G (p.Ala649=) c.1158A>G (p.Ala386=) c.2985A>G (p.Ala995=) c.2412A>G (p.Ala804=) c.2337A>G (p.Ala779=) c.1014A>G (p.Ala338=) | gnomAD v4 |
3 | g.38894758T>G | CA433336108 | SCN11A | c.2610A>C (p.Ala870=) c.2430A>C (p.Ala810=) c.2654A>C (n.2654A>C) c.2229A>C (p.Ala743=) c.1947A>C (p.Ala649=) c.1158A>C (p.Ala386=) c.2985A>C (p.Ala995=) c.2412A>C (p.Ala804=) c.2337A>C (p.Ala779=) c.1014A>C (p.Ala338=) | |
3 | g.38894759G>A | CA352174761 | SCN11A | c.2609C>T (p.Ala870Val) c.2429C>T (p.Ala810Val) c.2653C>T (n.2653C>T) c.2228C>T (p.Ala743Val) c.1946C>T (p.Ala649Val) c.1157C>T (p.Ala386Val) c.2984C>T (p.Ala995Val) c.2411C>T (p.Ala804Val) c.2336C>T (p.Ala779Val) c.1013C>T (p.Ala338Val) | dbSNP |
3 | g.38894759G>C | CA352174762 | SCN11A | c.2609C>G (p.Ala870Gly) c.2429C>G (p.Ala810Gly) c.2653C>G (n.2653C>G) c.2228C>G (p.Ala743Gly) c.1946C>G (p.Ala649Gly) c.1157C>G (p.Ala386Gly) c.2984C>G (p.Ala995Gly) c.2411C>G (p.Ala804Gly) c.2336C>G (p.Ala779Gly) c.1013C>G (p.Ala338Gly) | |
3 | g.38894759G= | CA1358718208 | SCN11A | c.2609C= (p.Ala870=) c.2429C= (p.Ala810=) c.2653C= (n.2653C=) c.2228C= (p.Ala743=) c.1946C= (p.Ala649=) c.1157C= (p.Ala386=) c.2984C= (p.Ala995=) c.2411C= (p.Ala804=) c.2336C= (p.Ala779=) c.1013C= (p.Ala338=) | |
3 | g.38894759G>T | CA352174763 | SCN11A | c.2609C>A (p.Ala870Glu) c.2429C>A (p.Ala810Glu) c.2653C>A (n.2653C>A) c.2228C>A (p.Ala743Glu) c.1946C>A (p.Ala649Glu) c.1157C>A (p.Ala386Glu) c.2984C>A (p.Ala995Glu) c.2411C>A (p.Ala804Glu) c.2336C>A (p.Ala779Glu) c.1013C>A (p.Ala338Glu) | |
3 | g.38894760C>A | CA352174765 | SCN11A | c.2608G>T (p.Ala870Ser) c.2428G>T (p.Ala810Ser) c.2652G>T (n.2652G>T) c.2227G>T (p.Ala743Ser) c.1945G>T (p.Ala649Ser) c.1156G>T (p.Ala386Ser) c.2983G>T (p.Ala995Ser) c.2410G>T (p.Ala804Ser) c.2335G>T (p.Ala779Ser) c.1012G>T (p.Ala338Ser) | |
3 | g.38894760C>G | CA352174766 | SCN11A | c.2608G>C (p.Ala870Pro) c.2428G>C (p.Ala810Pro) c.2652G>C (n.2652G>C) c.2227G>C (p.Ala743Pro) c.1945G>C (p.Ala649Pro) c.1156G>C (p.Ala386Pro) c.2983G>C (p.Ala995Pro) c.2410G>C (p.Ala804Pro) c.2335G>C (p.Ala779Pro) c.1012G>C (p.Ala338Pro) | |
3 | g.38894760C>T | CA352174764 | SCN11A | c.2608G>A (p.Ala870Thr) c.2428G>A (p.Ala810Thr) c.2652G>A (n.2652G>A) c.2227G>A (p.Ala743Thr) c.1945G>A (p.Ala649Thr) c.1156G>A (p.Ala386Thr) c.2983G>A (p.Ala995Thr) c.2410G>A (p.Ala804Thr) c.2335G>A (p.Ala779Thr) c.1012G>A (p.Ala338Thr) | dbSNP gnomAD v4 |
3 | g.38894761C>A | CA433336109 | SCN11A | c.2607G>T (p.Val869=) c.2427G>T (p.Val809=) c.2651G>T (n.2651G>T) c.2226G>T (p.Val742=) c.1944G>T (p.Val648=) c.1155G>T (p.Val385=) c.2982G>T (p.Val994=) c.2409G>T (p.Val803=) c.2334G>T (p.Val778=) c.1011G>T (p.Val337=) | |
3 | g.38894761C>G | CA433336110 | SCN11A | c.2607G>C (p.Val869=) c.2427G>C (p.Val809=) c.2651G>C (n.2651G>C) c.2226G>C (p.Val742=) c.1944G>C (p.Val648=) c.1155G>C (p.Val385=) c.2982G>C (p.Val994=) c.2409G>C (p.Val803=) c.2334G>C (p.Val778=) c.1011G>C (p.Val337=) | |
3 | g.38894761C>T | CA433336111 | SCN11A | c.2607G>A (p.Val869=) c.2427G>A (p.Val809=) c.2651G>A (n.2651G>A) c.2226G>A (p.Val742=) c.1944G>A (p.Val648=) c.1155G>A (p.Val385=) c.2982G>A (p.Val994=) c.2409G>A (p.Val803=) c.2334G>A (p.Val778=) c.1011G>A (p.Val337=) | gnomAD v4 |