Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38894859C>A | CA352174987 | SCN11A | c.2509G>T (p.Asp837Tyr) c.2329G>T (p.Asp777Tyr) c.2553G>T (n.2553G>T) c.2128G>T (p.Asp710Tyr) c.1846G>T (p.Asp616Tyr) c.1057G>T (p.Asp353Tyr) c.2884G>T (p.Asp962Tyr) c.2311G>T (p.Asp771Tyr) c.2236G>T (p.Asp746Tyr) c.913G>T (p.Asp305Tyr) | |
3 | g.38894859C= | CA1358718263 | SCN11A | c.2509G= (p.Asp837=) c.2329G= (p.Asp777=) c.2553G= (n.2553G=) c.2128G= (p.Asp710=) c.1846G= (p.Asp616=) c.1057G= (p.Asp353=) c.2884G= (p.Asp962=) c.2311G= (p.Asp771=) c.2236G= (p.Asp746=) c.913G= (p.Asp305=) | |
3 | g.38894859C>G | CA352174988 | SCN11A | c.2509G>C (p.Asp837His) c.2329G>C (p.Asp777His) c.2553G>C (n.2553G>C) c.2128G>C (p.Asp710His) c.1846G>C (p.Asp616His) c.1057G>C (p.Asp353His) c.2884G>C (p.Asp962His) c.2311G>C (p.Asp771His) c.2236G>C (p.Asp746His) c.913G>C (p.Asp305His) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38894859C>T | CA352174989 | SCN11A | c.2509G>A (p.Asp837Asn) c.2329G>A (p.Asp777Asn) c.2553G>A (n.2553G>A) c.2128G>A (p.Asp710Asn) c.1846G>A (p.Asp616Asn) c.1057G>A (p.Asp353Asn) c.2884G>A (p.Asp962Asn) c.2311G>A (p.Asp771Asn) c.2236G>A (p.Asp746Asn) c.913G>A (p.Asp305Asn) | |
3 | g.38894860_38894869del | CA2577554818 | SCN11A | c.2500_2509del (p.Leu834IlefsTer10) c.2320_2329del (p.Leu774IlefsTer10) c.2544_2553del (n.2544_2553del) c.2119_2128del (p.Leu707IlefsTer10) c.1837_1846del (p.Leu613IlefsTer10) c.1048_1057del (p.Leu350IlefsTer10) c.2875_2884del (p.Leu959IlefsTer10) c.2302_2311del (p.Leu768IlefsTer10) c.2227_2236del (p.Leu743IlefsTer10) c.904_913del (p.Leu302IlefsTer10) | |
3 | g.38894860C>A | CA72997821 | SCN11A | c.2508G>T (p.Leu836=) c.2328G>T (p.Leu776=) c.2552G>T (n.2552G>T) c.2127G>T (p.Leu709=) c.1845G>T (p.Leu615=) c.1056G>T (p.Leu352=) c.2883G>T (p.Leu961=) c.2310G>T (p.Leu770=) c.2235G>T (p.Leu745=) c.912G>T (p.Leu304=) | dbSNP |
3 | g.38894860C= | CA1358718264 | SCN11A | c.2508G= (p.Leu836=) c.2328G= (p.Leu776=) c.2552G= (n.2552G=) c.2127G= (p.Leu709=) c.1845G= (p.Leu615=) c.1056G= (p.Leu352=) c.2883G= (p.Leu961=) c.2310G= (p.Leu770=) c.2235G= (p.Leu745=) c.912G= (p.Leu304=) | |
3 | g.38894860C>G | CA433336178 | SCN11A | c.2508G>C (p.Leu836=) c.2328G>C (p.Leu776=) c.2552G>C (n.2552G>C) c.2127G>C (p.Leu709=) c.1845G>C (p.Leu615=) c.1056G>C (p.Leu352=) c.2883G>C (p.Leu961=) c.2310G>C (p.Leu770=) c.2235G>C (p.Leu745=) c.912G>C (p.Leu304=) | |
3 | g.38894860C>T | CA433336179 | SCN11A | c.2508G>A (p.Leu836=) c.2328G>A (p.Leu776=) c.2552G>A (n.2552G>A) c.2127G>A (p.Leu709=) c.1845G>A (p.Leu615=) c.1056G>A (p.Leu352=) c.2883G>A (p.Leu961=) c.2310G>A (p.Leu770=) c.2235G>A (p.Leu745=) c.912G>A (p.Leu304=) | |
3 | g.38894861A>C | CA352174990 | SCN11A | c.2507T>G (p.Leu836Arg) c.2327T>G (p.Leu776Arg) c.2551T>G (n.2551T>G) c.2126T>G (p.Leu709Arg) c.1844T>G (p.Leu615Arg) c.1055T>G (p.Leu352Arg) c.2882T>G (p.Leu961Arg) c.2309T>G (p.Leu770Arg) c.2234T>G (p.Leu745Arg) c.911T>G (p.Leu304Arg) | |
3 | g.38894861A>G | CA352174991 | SCN11A | c.2507T>C (p.Leu836Pro) c.2327T>C (p.Leu776Pro) c.2551T>C (n.2551T>C) c.2126T>C (p.Leu709Pro) c.1844T>C (p.Leu615Pro) c.1055T>C (p.Leu352Pro) c.2882T>C (p.Leu961Pro) c.2309T>C (p.Leu770Pro) c.2234T>C (p.Leu745Pro) c.911T>C (p.Leu304Pro) | |
3 | g.38894861A>T | CA352174992 | SCN11A | c.2507T>A (p.Leu836Gln) c.2327T>A (p.Leu776Gln) c.2551T>A (n.2551T>A) c.2126T>A (p.Leu709Gln) c.1844T>A (p.Leu615Gln) c.1055T>A (p.Leu352Gln) c.2882T>A (p.Leu961Gln) c.2309T>A (p.Leu770Gln) c.2234T>A (p.Leu745Gln) c.911T>A (p.Leu304Gln) | |
3 | g.38894862G>A | CA433336180 | SCN11A | c.2506C>T (p.Leu836=) c.2326C>T (p.Leu776=) c.2550C>T (n.2550C>T) c.2125C>T (p.Leu709=) c.1843C>T (p.Leu615=) c.1054C>T (p.Leu352=) c.2881C>T (p.Leu961=) c.2308C>T (p.Leu770=) c.2233C>T (p.Leu745=) c.910C>T (p.Leu304=) | gnomAD v4 |
3 | g.38894862G>C | CA352174993 | SCN11A | c.2506C>G (p.Leu836Val) c.2326C>G (p.Leu776Val) c.2550C>G (n.2550C>G) c.2125C>G (p.Leu709Val) c.1843C>G (p.Leu615Val) c.1054C>G (p.Leu352Val) c.2881C>G (p.Leu961Val) c.2308C>G (p.Leu770Val) c.2233C>G (p.Leu745Val) c.910C>G (p.Leu304Val) | |
3 | g.38894862G= | CA1358718265 | SCN11A | c.2506C= (p.Leu836=) c.2326C= (p.Leu776=) c.2550C= (n.2550C=) c.2125C= (p.Leu709=) c.1843C= (p.Leu615=) c.1054C= (p.Leu352=) c.2881C= (p.Leu961=) c.2308C= (p.Leu770=) c.2233C= (p.Leu745=) c.910C= (p.Leu304=) | |
3 | g.38894862G>T | CA2322029 | SCN11A | c.2506C>A (p.Leu836Met) c.2326C>A (p.Leu776Met) c.2550C>A (n.2550C>A) c.2125C>A (p.Leu709Met) c.1843C>A (p.Leu615Met) c.1054C>A (p.Leu352Met) c.2881C>A (p.Leu961Met) c.2308C>A (p.Leu770Met) c.2233C>A (p.Leu745Met) c.910C>A (p.Leu304Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38894863del | CA2665127322 | SCN11A | c.2505del (p.Leu836TrpfsTer11) c.2325del (p.Leu776TrpfsTer11) c.2549del (n.2549del) c.2124del (p.Leu709TrpfsTer11) c.1842del (p.Leu615TrpfsTer11) c.1053del (p.Leu352TrpfsTer11) c.2880del (p.Leu961TrpfsTer11) c.2307del (p.Leu770TrpfsTer11) c.2232del (p.Leu745TrpfsTer11) c.909del (p.Leu304TrpfsTer11) | gnomAD v4 |
3 | g.38894863T>A | CA433336181 | SCN11A | c.2505A>T (p.Ala835=) c.2325A>T (p.Ala775=) c.2549A>T (n.2549A>T) c.2124A>T (p.Ala708=) c.1842A>T (p.Ala614=) c.1053A>T (p.Ala351=) c.2880A>T (p.Ala960=) c.2307A>T (p.Ala769=) c.2232A>T (p.Ala744=) c.909A>T (p.Ala303=) | |
3 | g.38894863T>C | CA433336182 | SCN11A | c.2505A>G (p.Ala835=) c.2325A>G (p.Ala775=) c.2549A>G (n.2549A>G) c.2124A>G (p.Ala708=) c.1842A>G (p.Ala614=) c.1053A>G (p.Ala351=) c.2880A>G (p.Ala960=) c.2307A>G (p.Ala769=) c.2232A>G (p.Ala744=) c.909A>G (p.Ala303=) | |
3 | g.38894863T>G | CA433336183 | SCN11A | c.2505A>C (p.Ala835=) c.2325A>C (p.Ala775=) c.2549A>C (n.2549A>C) c.2124A>C (p.Ala708=) c.1842A>C (p.Ala614=) c.1053A>C (p.Ala351=) c.2880A>C (p.Ala960=) c.2307A>C (p.Ala769=) c.2232A>C (p.Ala744=) c.909A>C (p.Ala303=) | ClinVar |
3 | g.38894863_38894864insTAGCACTGGATC | CA2665127323 | SCN11A | c.2504_2505insGATCCAGTGCTA (p.Ala836IlefsTer4) c.2324_2325insGATCCAGTGCTA (p.Ala776IlefsTer4) c.2548_2549insGATCCAGTGCTA (n.2548_2549insGATCCAGTGCTA) c.2123_2124insGATCCAGTGCTA (p.Ala709IlefsTer4) c.1841_1842insGATCCAGTGCTA (p.Ala615IlefsTer4) c.1052_1053insGATCCAGTGCTA (p.Ala352IlefsTer4) c.2879_2880insGATCCAGTGCTA (p.Ala961IlefsTer4) c.2306_2307insGATCCAGTGCTA (p.Ala770IlefsTer4) c.2231_2232insGATCCAGTGCTA (p.Ala745IlefsTer4) c.908_909insGATCCAGTGCTA (p.Ala304IlefsTer4) | gnomAD v4 |
3 | g.38894864G>A | CA352174994 | SCN11A | c.2504C>T (p.Ala835Val) c.2324C>T (p.Ala775Val) c.2548C>T (n.2548C>T) c.2123C>T (p.Ala708Val) c.1841C>T (p.Ala614Val) c.1052C>T (p.Ala351Val) c.2879C>T (p.Ala960Val) c.2306C>T (p.Ala769Val) c.2231C>T (p.Ala744Val) c.908C>T (p.Ala303Val) | gnomAD v4 |
3 | g.38894864G>C | CA352174995 | SCN11A | c.2504C>G (p.Ala835Gly) c.2324C>G (p.Ala775Gly) c.2548C>G (n.2548C>G) c.2123C>G (p.Ala708Gly) c.1841C>G (p.Ala614Gly) c.1052C>G (p.Ala351Gly) c.2879C>G (p.Ala960Gly) c.2306C>G (p.Ala769Gly) c.2231C>G (p.Ala744Gly) c.908C>G (p.Ala303Gly) | |
3 | g.38894864G>T | CA352174996 | SCN11A | c.2504C>A (p.Ala835Glu) c.2324C>A (p.Ala775Glu) c.2548C>A (n.2548C>A) c.2123C>A (p.Ala708Glu) c.1841C>A (p.Ala614Glu) c.1052C>A (p.Ala351Glu) c.2879C>A (p.Ala960Glu) c.2306C>A (p.Ala769Glu) c.2231C>A (p.Ala744Glu) c.908C>A (p.Ala303Glu) | |
3 | g.38894865C>A | CA352174999 | SCN11A | c.2503G>T (p.Ala835Ser) c.2323G>T (p.Ala775Ser) c.2547G>T (n.2547G>T) c.2122G>T (p.Ala708Ser) c.1840G>T (p.Ala614Ser) c.1051G>T (p.Ala351Ser) c.2878G>T (p.Ala960Ser) c.2305G>T (p.Ala769Ser) c.2230G>T (p.Ala744Ser) c.907G>T (p.Ala303Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38894865C= | CA1358718266 | SCN11A | c.2503G= (p.Ala835=) c.2323G= (p.Ala775=) c.2547G= (n.2547G=) c.2122G= (p.Ala708=) c.1840G= (p.Ala614=) c.1051G= (p.Ala351=) c.2878G= (p.Ala960=) c.2305G= (p.Ala769=) c.2230G= (p.Ala744=) c.907G= (p.Ala303=) | |
3 | g.38894865C>G | CA352174998 | SCN11A | c.2503G>C (p.Ala835Pro) c.2323G>C (p.Ala775Pro) c.2547G>C (n.2547G>C) c.2122G>C (p.Ala708Pro) c.1840G>C (p.Ala614Pro) c.1051G>C (p.Ala351Pro) c.2878G>C (p.Ala960Pro) c.2305G>C (p.Ala769Pro) c.2230G>C (p.Ala744Pro) c.907G>C (p.Ala303Pro) | |
3 | g.38894865C>T | CA352174997 | SCN11A | c.2503G>A (p.Ala835Thr) c.2323G>A (p.Ala775Thr) c.2547G>A (n.2547G>A) c.2122G>A (p.Ala708Thr) c.1840G>A (p.Ala614Thr) c.1051G>A (p.Ala351Thr) c.2878G>A (p.Ala960Thr) c.2305G>A (p.Ala769Thr) c.2230G>A (p.Ala744Thr) c.907G>A (p.Ala303Thr) | dbSNP |
3 | g.38894866T>A | CA352175000 | SCN11A | c.2502A>T (p.Leu834Phe) c.2322A>T (p.Leu774Phe) c.2546A>T (n.2546A>T) c.2121A>T (p.Leu707Phe) c.1839A>T (p.Leu613Phe) c.1050A>T (p.Leu350Phe) c.2877A>T (p.Leu959Phe) c.2304A>T (p.Leu768Phe) c.2229A>T (p.Leu743Phe) c.906A>T (p.Leu302Phe) | |
3 | g.38894866T>C | CA433336184 | SCN11A | c.2502A>G (p.Leu834=) c.2322A>G (p.Leu774=) c.2546A>G (n.2546A>G) c.2121A>G (p.Leu707=) c.1839A>G (p.Leu613=) c.1050A>G (p.Leu350=) c.2877A>G (p.Leu959=) c.2304A>G (p.Leu768=) c.2229A>G (p.Leu743=) c.906A>G (p.Leu302=) | |
3 | g.38894866T>G | CA352175001 | SCN11A | c.2502A>C (p.Leu834Phe) c.2322A>C (p.Leu774Phe) c.2546A>C (n.2546A>C) c.2121A>C (p.Leu707Phe) c.1839A>C (p.Leu613Phe) c.1050A>C (p.Leu350Phe) c.2877A>C (p.Leu959Phe) c.2304A>C (p.Leu768Phe) c.2229A>C (p.Leu743Phe) c.906A>C (p.Leu302Phe) | gnomAD v4 |
3 | g.38894867A= | CA1358718267 | SCN11A | c.2501T= (p.Leu834=) c.2321T= (p.Leu774=) c.2545T= (n.2545T=) c.2120T= (p.Leu707=) c.1838T= (p.Leu613=) c.1049T= (p.Leu350=) c.2876T= (p.Leu959=) c.2303T= (p.Leu768=) c.2228T= (p.Leu743=) c.905T= (p.Leu302=) | |
3 | g.38894867A>C | CA352175002 | SCN11A | c.2501T>G (p.Leu834Ter) c.2321T>G (p.Leu774Ter) c.2545T>G (n.2545T>G) c.2120T>G (p.Leu707Ter) c.1838T>G (p.Leu613Ter) c.1049T>G (p.Leu350Ter) c.2876T>G (p.Leu959Ter) c.2303T>G (p.Leu768Ter) c.2228T>G (p.Leu743Ter) c.905T>G (p.Leu302Ter) | ClinVar dbSNP gnomAD v4 |
3 | g.38894867A>G | CA352175003 | SCN11A | c.2501T>C (p.Leu834Ser) c.2321T>C (p.Leu774Ser) c.2545T>C (n.2545T>C) c.2120T>C (p.Leu707Ser) c.1838T>C (p.Leu613Ser) c.1049T>C (p.Leu350Ser) c.2876T>C (p.Leu959Ser) c.2303T>C (p.Leu768Ser) c.2228T>C (p.Leu743Ser) c.905T>C (p.Leu302Ser) | |
3 | g.38894867A>T | CA352175004 | SCN11A | c.2501T>A (p.Leu834Ter) c.2321T>A (p.Leu774Ter) c.2545T>A (n.2545T>A) c.2120T>A (p.Leu707Ter) c.1838T>A (p.Leu613Ter) c.1049T>A (p.Leu350Ter) c.2876T>A (p.Leu959Ter) c.2303T>A (p.Leu768Ter) c.2228T>A (p.Leu743Ter) c.905T>A (p.Leu302Ter) | |
3 | g.38894868A>C | CA352175005 | SCN11A | c.2500T>G (p.Leu834Val) c.2320T>G (p.Leu774Val) c.2544T>G (n.2544T>G) c.2119T>G (p.Leu707Val) c.1837T>G (p.Leu613Val) c.1048T>G (p.Leu350Val) c.2875T>G (p.Leu959Val) c.2302T>G (p.Leu768Val) c.2227T>G (p.Leu743Val) c.904T>G (p.Leu302Val) | |
3 | g.38894868A>G | CA433336185 | SCN11A | c.2500T>C (p.Leu834=) c.2320T>C (p.Leu774=) c.2544T>C (n.2544T>C) c.2119T>C (p.Leu707=) c.1837T>C (p.Leu613=) c.1048T>C (p.Leu350=) c.2875T>C (p.Leu959=) c.2302T>C (p.Leu768=) c.2227T>C (p.Leu743=) c.904T>C (p.Leu302=) | |
3 | g.38894868A>T | CA352175006 | SCN11A | c.2500T>A (p.Leu834Ile) c.2320T>A (p.Leu774Ile) c.2544T>A (n.2544T>A) c.2119T>A (p.Leu707Ile) c.1837T>A (p.Leu613Ile) c.1048T>A (p.Leu350Ile) c.2875T>A (p.Leu959Ile) c.2302T>A (p.Leu768Ile) c.2227T>A (p.Leu743Ile) c.904T>A (p.Leu302Ile) | |
3 | g.38894869C>A | CA352175007 | SCN11A | c.2499G>T (p.Gln833His) c.2319G>T (p.Gln773His) c.2543G>T (n.2543G>T) c.2118G>T (p.Gln706His) c.1836G>T (p.Gln612His) c.1047G>T (p.Gln349His) c.2874G>T (p.Gln958His) c.2301G>T (p.Gln767His) c.2226G>T (p.Gln742His) c.903G>T (p.Gln301His) | |
3 | g.38894869C>G | CA352175008 | SCN11A | c.2499G>C (p.Gln833His) c.2319G>C (p.Gln773His) c.2543G>C (n.2543G>C) c.2118G>C (p.Gln706His) c.1836G>C (p.Gln612His) c.1047G>C (p.Gln349His) c.2874G>C (p.Gln958His) c.2301G>C (p.Gln767His) c.2226G>C (p.Gln742His) c.903G>C (p.Gln301His) | |
3 | g.38894869C>T | CA433336189 | SCN11A | c.2499G>A (p.Gln833=) c.2319G>A (p.Gln773=) c.2543G>A (n.2543G>A) c.2118G>A (p.Gln706=) c.1836G>A (p.Gln612=) c.1047G>A (p.Gln349=) c.2874G>A (p.Gln958=) c.2301G>A (p.Gln767=) c.2226G>A (p.Gln742=) c.903G>A (p.Gln301=) | |
3 | g.38894870T>A | CA352175009 | SCN11A | c.2498A>T (p.Gln833Leu) c.2318A>T (p.Gln773Leu) c.2542A>T (n.2542A>T) c.2117A>T (p.Gln706Leu) c.1835A>T (p.Gln612Leu) c.1046A>T (p.Gln349Leu) c.2873A>T (p.Gln958Leu) c.2300A>T (p.Gln767Leu) c.2225A>T (p.Gln742Leu) c.902A>T (p.Gln301Leu) | gnomAD v4 |
3 | g.38894870T>C | CA352175010 | SCN11A | c.2498A>G (p.Gln833Arg) c.2318A>G (p.Gln773Arg) c.2542A>G (n.2542A>G) c.2117A>G (p.Gln706Arg) c.1835A>G (p.Gln612Arg) c.1046A>G (p.Gln349Arg) c.2873A>G (p.Gln958Arg) c.2300A>G (p.Gln767Arg) c.2225A>G (p.Gln742Arg) c.902A>G (p.Gln301Arg) | |
3 | g.38894870T>G | CA352175011 | SCN11A | c.2498A>C (p.Gln833Pro) c.2318A>C (p.Gln773Pro) c.2542A>C (n.2542A>C) c.2117A>C (p.Gln706Pro) c.1835A>C (p.Gln612Pro) c.1046A>C (p.Gln349Pro) c.2873A>C (p.Gln958Pro) c.2300A>C (p.Gln767Pro) c.2225A>C (p.Gln742Pro) c.902A>C (p.Gln301Pro) | |
3 | g.38894871G>A | CA352175014 | SCN11A | c.2497C>T (p.Gln833Ter) c.2317C>T (p.Gln773Ter) c.2541C>T (n.2541C>T) c.2116C>T (p.Gln706Ter) c.1834C>T (p.Gln612Ter) c.1045C>T (p.Gln349Ter) c.2872C>T (p.Gln958Ter) c.2299C>T (p.Gln767Ter) c.2224C>T (p.Gln742Ter) c.901C>T (p.Gln301Ter) | COSMIC |
3 | g.38894871G>C | CA352175013 | SCN11A | c.2497C>G (p.Gln833Glu) c.2317C>G (p.Gln773Glu) c.2541C>G (n.2541C>G) c.2116C>G (p.Gln706Glu) c.1834C>G (p.Gln612Glu) c.1045C>G (p.Gln349Glu) c.2872C>G (p.Gln958Glu) c.2299C>G (p.Gln767Glu) c.2224C>G (p.Gln742Glu) c.901C>G (p.Gln301Glu) | |
3 | g.38894871G>T | CA352175012 | SCN11A | c.2497C>A (p.Gln833Lys) c.2317C>A (p.Gln773Lys) c.2541C>A (n.2541C>A) c.2116C>A (p.Gln706Lys) c.1834C>A (p.Gln612Lys) c.1045C>A (p.Gln349Lys) c.2872C>A (p.Gln958Lys) c.2299C>A (p.Gln767Lys) c.2224C>A (p.Gln742Lys) c.901C>A (p.Gln301Lys) | |
3 | g.38894872G>A | CA433336191 | SCN11A | c.2496C>T (p.Val832=) c.2316C>T (p.Val772=) c.2540C>T (n.2540C>T) c.2115C>T (p.Val705=) c.1833C>T (p.Val611=) c.1044C>T (p.Val348=) c.2871C>T (p.Val957=) c.2298C>T (p.Val766=) c.2223C>T (p.Val741=) c.900C>T (p.Val300=) | |
3 | g.38894872G>C | CA72997830 | SCN11A | c.2496C>G (p.Val832=) c.2316C>G (p.Val772=) c.2540C>G (n.2540C>G) c.2115C>G (p.Val705=) c.1833C>G (p.Val611=) c.1044C>G (p.Val348=) c.2871C>G (p.Val957=) c.2298C>G (p.Val766=) c.2223C>G (p.Val741=) c.900C>G (p.Val300=) | dbSNP |
3 | g.38894872G= | CA1358718268 | SCN11A | c.2496C= (p.Val832=) c.2316C= (p.Val772=) c.2540C= (n.2540C=) c.2115C= (p.Val705=) c.1833C= (p.Val611=) c.1044C= (p.Val348=) c.2871C= (p.Val957=) c.2298C= (p.Val766=) c.2223C= (p.Val741=) c.900C= (p.Val300=) | |
3 | g.38894872G>T | CA433336192 | SCN11A | c.2496C>A (p.Val832=) c.2316C>A (p.Val772=) c.2540C>A (n.2540C>A) c.2115C>A (p.Val705=) c.1833C>A (p.Val611=) c.1044C>A (p.Val348=) c.2871C>A (p.Val957=) c.2298C>A (p.Val766=) c.2223C>A (p.Val741=) c.900C>A (p.Val300=) | |
3 | g.38894873A>C | CA352175015 | SCN11A | c.2495T>G (p.Val832Gly) c.2315T>G (p.Val772Gly) c.2539T>G (n.2539T>G) c.2114T>G (p.Val705Gly) c.1832T>G (p.Val611Gly) c.1043T>G (p.Val348Gly) c.2870T>G (p.Val957Gly) c.2297T>G (p.Val766Gly) c.2222T>G (p.Val741Gly) c.899T>G (p.Val300Gly) | |
3 | g.38894873A>G | CA352175017 | SCN11A | c.2495T>C (p.Val832Ala) c.2315T>C (p.Val772Ala) c.2539T>C (n.2539T>C) c.2114T>C (p.Val705Ala) c.1832T>C (p.Val611Ala) c.1043T>C (p.Val348Ala) c.2870T>C (p.Val957Ala) c.2297T>C (p.Val766Ala) c.2222T>C (p.Val741Ala) c.899T>C (p.Val300Ala) | |
3 | g.38894873A>T | CA352175016 | SCN11A | c.2495T>A (p.Val832Asp) c.2315T>A (p.Val772Asp) c.2539T>A (n.2539T>A) c.2114T>A (p.Val705Asp) c.1832T>A (p.Val611Asp) c.1043T>A (p.Val348Asp) c.2870T>A (p.Val957Asp) c.2297T>A (p.Val766Asp) c.2222T>A (p.Val741Asp) c.899T>A (p.Val300Asp) | |
3 | g.38894874C>A | CA352175018 | SCN11A | c.2494G>T (p.Val832Phe) c.2314G>T (p.Val772Phe) c.2538G>T (n.2538G>T) c.2113G>T (p.Val705Phe) c.1831G>T (p.Val611Phe) c.1042G>T (p.Val348Phe) c.2869G>T (p.Val957Phe) c.2296G>T (p.Val766Phe) c.2221G>T (p.Val741Phe) c.898G>T (p.Val300Phe) | |
3 | g.38894874C>G | CA352175020 | SCN11A | c.2494G>C (p.Val832Leu) c.2314G>C (p.Val772Leu) c.2538G>C (n.2538G>C) c.2113G>C (p.Val705Leu) c.1831G>C (p.Val611Leu) c.1042G>C (p.Val348Leu) c.2869G>C (p.Val957Leu) c.2296G>C (p.Val766Leu) c.2221G>C (p.Val741Leu) c.898G>C (p.Val300Leu) | |
3 | g.38894874C>T | CA352175019 | SCN11A | c.2494G>A (p.Val832Ile) c.2314G>A (p.Val772Ile) c.2538G>A (n.2538G>A) c.2113G>A (p.Val705Ile) c.1831G>A (p.Val611Ile) c.1042G>A (p.Val348Ile) c.2869G>A (p.Val957Ile) c.2296G>A (p.Val766Ile) c.2221G>A (p.Val741Ile) c.898G>A (p.Val300Ile) | |
3 | g.38894875T>A | CA352175021 | SCN11A | c.2493A>T (p.Lys831Asn) c.2313A>T (p.Lys771Asn) c.2537A>T (n.2537A>T) c.2112A>T (p.Lys704Asn) c.1830A>T (p.Lys610Asn) c.1041A>T (p.Lys347Asn) c.2868A>T (p.Lys956Asn) c.2295A>T (p.Lys765Asn) c.2220A>T (p.Lys740Asn) c.897A>T (p.Lys299Asn) | |
3 | g.38894875T>C | CA433336195 | SCN11A | c.2493A>G (p.Lys831=) c.2313A>G (p.Lys771=) c.2537A>G (n.2537A>G) c.2112A>G (p.Lys704=) c.1830A>G (p.Lys610=) c.1041A>G (p.Lys347=) c.2868A>G (p.Lys956=) c.2295A>G (p.Lys765=) c.2220A>G (p.Lys740=) c.897A>G (p.Lys299=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38894875T>G | CA352175022 | SCN11A | c.2493A>C (p.Lys831Asn) c.2313A>C (p.Lys771Asn) c.2537A>C (n.2537A>C) c.2112A>C (p.Lys704Asn) c.1830A>C (p.Lys610Asn) c.1041A>C (p.Lys347Asn) c.2868A>C (p.Lys956Asn) c.2295A>C (p.Lys765Asn) c.2220A>C (p.Lys740Asn) c.897A>C (p.Lys299Asn) | dbSNP |
3 | g.38894875T= | CA1358718269 | SCN11A | c.2493A= (p.Lys831=) c.2313A= (p.Lys771=) c.2537A= (n.2537A=) c.2112A= (p.Lys704=) c.1830A= (p.Lys610=) c.1041A= (p.Lys347=) c.2868A= (p.Lys956=) c.2295A= (p.Lys765=) c.2220A= (p.Lys740=) c.897A= (p.Lys299=) | |
3 | g.38894877del | CA2577554821 | SCN11A | c.2493del (p.Val832SerfsTer3) c.2313del (p.Val772SerfsTer3) c.2537del (n.2537del) c.2112del (p.Val705SerfsTer3) c.1830del (p.Val611SerfsTer3) c.1041del (p.Val348SerfsTer3) c.2868del (p.Val957SerfsTer3) c.2295del (p.Val766SerfsTer3) c.2220del (p.Val741SerfsTer3) c.897del (p.Val300SerfsTer3) | |
3 | g.38894876T>A | CA352175023 | SCN11A | c.2492A>T (p.Lys831Ile) c.2312A>T (p.Lys771Ile) c.2536A>T (n.2536A>T) c.2111A>T (p.Lys704Ile) c.1829A>T (p.Lys610Ile) c.1040A>T (p.Lys347Ile) c.2867A>T (p.Lys956Ile) c.2294A>T (p.Lys765Ile) c.2219A>T (p.Lys740Ile) c.896A>T (p.Lys299Ile) | |
3 | g.38894876T>C | CA352175024 | SCN11A | c.2492A>G (p.Lys831Arg) c.2312A>G (p.Lys771Arg) c.2536A>G (n.2536A>G) c.2111A>G (p.Lys704Arg) c.1829A>G (p.Lys610Arg) c.1040A>G (p.Lys347Arg) c.2867A>G (p.Lys956Arg) c.2294A>G (p.Lys765Arg) c.2219A>G (p.Lys740Arg) c.896A>G (p.Lys299Arg) | |
3 | g.38894876T>G | CA352175025 | SCN11A | c.2492A>C (p.Lys831Thr) c.2312A>C (p.Lys771Thr) c.2536A>C (n.2536A>C) c.2111A>C (p.Lys704Thr) c.1829A>C (p.Lys610Thr) c.1040A>C (p.Lys347Thr) c.2867A>C (p.Lys956Thr) c.2294A>C (p.Lys765Thr) c.2219A>C (p.Lys740Thr) c.896A>C (p.Lys299Thr) | dbSNP gnomAD v2 |
3 | g.38894876T= | CA1358718270 | SCN11A | c.2492A= (p.Lys831=) c.2312A= (p.Lys771=) c.2536A= (n.2536A=) c.2111A= (p.Lys704=) c.1829A= (p.Lys610=) c.1040A= (p.Lys347=) c.2867A= (p.Lys956=) c.2294A= (p.Lys765=) c.2219A= (p.Lys740=) c.896A= (p.Lys299=) | |
3 | g.38894877T>A | CA352175026 | SCN11A | c.2491A>T (p.Lys831Ter) c.2311A>T (p.Lys771Ter) c.2535A>T (n.2535A>T) c.2110A>T (p.Lys704Ter) c.1828A>T (p.Lys610Ter) c.1039A>T (p.Lys347Ter) c.2866A>T (p.Lys956Ter) c.2293A>T (p.Lys765Ter) c.2218A>T (p.Lys740Ter) c.895A>T (p.Lys299Ter) | dbSNP |
3 | g.38894877T>C | CA352175027 | SCN11A | c.2491A>G (p.Lys831Glu) c.2311A>G (p.Lys771Glu) c.2535A>G (n.2535A>G) c.2110A>G (p.Lys704Glu) c.1828A>G (p.Lys610Glu) c.1039A>G (p.Lys347Glu) c.2866A>G (p.Lys956Glu) c.2293A>G (p.Lys765Glu) c.2218A>G (p.Lys740Glu) c.895A>G (p.Lys299Glu) | dbSNP gnomAD v4 |
3 | g.38894877T>G | CA352175028 | SCN11A | c.2491A>C (p.Lys831Gln) c.2311A>C (p.Lys771Gln) c.2535A>C (n.2535A>C) c.2110A>C (p.Lys704Gln) c.1828A>C (p.Lys610Gln) c.1039A>C (p.Lys347Gln) c.2866A>C (p.Lys956Gln) c.2293A>C (p.Lys765Gln) c.2218A>C (p.Lys740Gln) c.895A>C (p.Lys299Gln) | |
3 | g.38894877T= | CA1358718271 | SCN11A | c.2491A= (p.Lys831=) c.2311A= (p.Lys771=) c.2535A= (n.2535A=) c.2110A= (p.Lys704=) c.1828A= (p.Lys610=) c.1039A= (p.Lys347=) c.2866A= (p.Lys956=) c.2293A= (p.Lys765=) c.2218A= (p.Lys740=) c.895A= (p.Lys299=) | |
3 | g.38894878A= | CA1358718272 | SCN11A | c.2490T= (p.Thr830=) c.2310T= (p.Thr770=) c.2534T= (n.2534T=) c.2109T= (p.Thr703=) c.1827T= (p.Thr609=) c.1038T= (p.Thr346=) c.2865T= (p.Thr955=) c.2292T= (p.Thr764=) c.2217T= (p.Thr739=) c.894T= (p.Thr298=) | |
3 | g.38894878A>C | CA433336199 | SCN11A | c.2490T>G (p.Thr830=) c.2310T>G (p.Thr770=) c.2534T>G (n.2534T>G) c.2109T>G (p.Thr703=) c.1827T>G (p.Thr609=) c.1038T>G (p.Thr346=) c.2865T>G (p.Thr955=) c.2292T>G (p.Thr764=) c.2217T>G (p.Thr739=) c.894T>G (p.Thr298=) | |
3 | g.38894878A>G | CA433336200 | SCN11A | c.2490T>C (p.Thr830=) c.2310T>C (p.Thr770=) c.2534T>C (n.2534T>C) c.2109T>C (p.Thr703=) c.1827T>C (p.Thr609=) c.1038T>C (p.Thr346=) c.2865T>C (p.Thr955=) c.2292T>C (p.Thr764=) c.2217T>C (p.Thr739=) c.894T>C (p.Thr298=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38894878A>T | CA433336201 | SCN11A | c.2490T>A (p.Thr830=) c.2310T>A (p.Thr770=) c.2534T>A (n.2534T>A) c.2109T>A (p.Thr703=) c.1827T>A (p.Thr609=) c.1038T>A (p.Thr346=) c.2865T>A (p.Thr955=) c.2292T>A (p.Thr764=) c.2217T>A (p.Thr739=) c.894T>A (p.Thr298=) | gnomAD v4 |
3 | g.38894879G>A | CA352175029 | SCN11A | c.2489C>T (p.Thr830Ile) c.2309C>T (p.Thr770Ile) c.2533C>T (n.2533C>T) c.2108C>T (p.Thr703Ile) c.1826C>T (p.Thr609Ile) c.1037C>T (p.Thr346Ile) c.2864C>T (p.Thr955Ile) c.2291C>T (p.Thr764Ile) c.2216C>T (p.Thr739Ile) c.893C>T (p.Thr298Ile) | |
3 | g.38894879G>C | CA352175030 | SCN11A | c.2489C>G (p.Thr830Ser) c.2309C>G (p.Thr770Ser) c.2533C>G (n.2533C>G) c.2108C>G (p.Thr703Ser) c.1826C>G (p.Thr609Ser) c.1037C>G (p.Thr346Ser) c.2864C>G (p.Thr955Ser) c.2291C>G (p.Thr764Ser) c.2216C>G (p.Thr739Ser) c.893C>G (p.Thr298Ser) | |
3 | g.38894879G>T | CA352175031 | SCN11A | c.2489C>A (p.Thr830Asn) c.2309C>A (p.Thr770Asn) c.2533C>A (n.2533C>A) c.2108C>A (p.Thr703Asn) c.1826C>A (p.Thr609Asn) c.1037C>A (p.Thr346Asn) c.2864C>A (p.Thr955Asn) c.2291C>A (p.Thr764Asn) c.2216C>A (p.Thr739Asn) c.893C>A (p.Thr298Asn) | |
3 | g.38894880T>A | CA352175034 | SCN11A | c.2488A>T (p.Thr830Ser) c.2308A>T (p.Thr770Ser) c.2532A>T (n.2532A>T) c.2107A>T (p.Thr703Ser) c.1825A>T (p.Thr609Ser) c.1036A>T (p.Thr346Ser) c.2863A>T (p.Thr955Ser) c.2290A>T (p.Thr764Ser) c.2215A>T (p.Thr739Ser) c.892A>T (p.Thr298Ser) | dbSNP |
3 | g.38894880T>C | CA352175032 | SCN11A | c.2488A>G (p.Thr830Ala) c.2308A>G (p.Thr770Ala) c.2532A>G (n.2532A>G) c.2107A>G (p.Thr703Ala) c.1825A>G (p.Thr609Ala) c.1036A>G (p.Thr346Ala) c.2863A>G (p.Thr955Ala) c.2290A>G (p.Thr764Ala) c.2215A>G (p.Thr739Ala) c.892A>G (p.Thr298Ala) | dbSNP |
3 | g.38894880T>G | CA352175033 | SCN11A | c.2488A>C (p.Thr830Pro) c.2308A>C (p.Thr770Pro) c.2532A>C (n.2532A>C) c.2107A>C (p.Thr703Pro) c.1825A>C (p.Thr609Pro) c.1036A>C (p.Thr346Pro) c.2863A>C (p.Thr955Pro) c.2290A>C (p.Thr764Pro) c.2215A>C (p.Thr739Pro) c.892A>C (p.Thr298Pro) | |
3 | g.38894880T= | CA1358718273 | SCN11A | c.2488A= (p.Thr830=) c.2308A= (p.Thr770=) c.2532A= (n.2532A=) c.2107A= (p.Thr703=) c.1825A= (p.Thr609=) c.1036A= (p.Thr346=) c.2863A= (p.Thr955=) c.2290A= (p.Thr764=) c.2215A= (p.Thr739=) c.892A= (p.Thr298=) | |
3 | g.38894881T>A | CA352175035 | SCN11A | c.2487A>T (p.Lys829Asn) c.2307A>T (p.Lys769Asn) c.2531A>T (n.2531A>T) c.2106A>T (p.Lys702Asn) c.1824A>T (p.Lys608Asn) c.1035A>T (p.Lys345Asn) c.2862A>T (p.Lys954Asn) c.2289A>T (p.Lys763Asn) c.2214A>T (p.Lys738Asn) c.891A>T (p.Lys297Asn) | |
3 | g.38894881T>C | CA433336205 | SCN11A | c.2487A>G (p.Lys829=) c.2307A>G (p.Lys769=) c.2531A>G (n.2531A>G) c.2106A>G (p.Lys702=) c.1824A>G (p.Lys608=) c.1035A>G (p.Lys345=) c.2862A>G (p.Lys954=) c.2289A>G (p.Lys763=) c.2214A>G (p.Lys738=) c.891A>G (p.Lys297=) | |
3 | g.38894881T>G | CA352175036 | SCN11A | c.2487A>C (p.Lys829Asn) c.2307A>C (p.Lys769Asn) c.2531A>C (n.2531A>C) c.2106A>C (p.Lys702Asn) c.1824A>C (p.Lys608Asn) c.1035A>C (p.Lys345Asn) c.2862A>C (p.Lys954Asn) c.2289A>C (p.Lys763Asn) c.2214A>C (p.Lys738Asn) c.891A>C (p.Lys297Asn) | |
3 | g.38894882T>A | CA352175037 | SCN11A | c.2486A>T (p.Lys829Ile) c.2306A>T (p.Lys769Ile) c.2530A>T (n.2530A>T) c.2105A>T (p.Lys702Ile) c.1823A>T (p.Lys608Ile) c.1034A>T (p.Lys345Ile) c.2861A>T (p.Lys954Ile) c.2288A>T (p.Lys763Ile) c.2213A>T (p.Lys738Ile) c.890A>T (p.Lys297Ile) | |
3 | g.38894882T>C | CA352175038 | SCN11A | c.2486A>G (p.Lys829Arg) c.2306A>G (p.Lys769Arg) c.2530A>G (n.2530A>G) c.2105A>G (p.Lys702Arg) c.1823A>G (p.Lys608Arg) c.1034A>G (p.Lys345Arg) c.2861A>G (p.Lys954Arg) c.2288A>G (p.Lys763Arg) c.2213A>G (p.Lys738Arg) c.890A>G (p.Lys297Arg) | |
3 | g.38894882T>G | CA352175039 | SCN11A | c.2486A>C (p.Lys829Thr) c.2306A>C (p.Lys769Thr) c.2530A>C (n.2530A>C) c.2105A>C (p.Lys702Thr) c.1823A>C (p.Lys608Thr) c.1034A>C (p.Lys345Thr) c.2861A>C (p.Lys954Thr) c.2288A>C (p.Lys763Thr) c.2213A>C (p.Lys738Thr) c.890A>C (p.Lys297Thr) | |
3 | g.38894883T>A | CA352175040 | SCN11A | c.2485A>T (p.Lys829Ter) c.2305A>T (p.Lys769Ter) c.2529A>T (n.2529A>T) c.2104A>T (p.Lys702Ter) c.1822A>T (p.Lys608Ter) c.1033A>T (p.Lys345Ter) c.2860A>T (p.Lys954Ter) c.2287A>T (p.Lys763Ter) c.2212A>T (p.Lys738Ter) c.889A>T (p.Lys297Ter) | dbSNP |
3 | g.38894883T>C | CA72997831 | SCN11A | c.2485A>G (p.Lys829Glu) c.2305A>G (p.Lys769Glu) c.2529A>G (n.2529A>G) c.2104A>G (p.Lys702Glu) c.1822A>G (p.Lys608Glu) c.1033A>G (p.Lys345Glu) c.2860A>G (p.Lys954Glu) c.2287A>G (p.Lys763Glu) c.2212A>G (p.Lys738Glu) c.889A>G (p.Lys297Glu) | ClinVar dbSNP |
3 | g.38894883T>G | CA352175041 | SCN11A | c.2485A>C (p.Lys829Gln) c.2305A>C (p.Lys769Gln) c.2529A>C (n.2529A>C) c.2104A>C (p.Lys702Gln) c.1822A>C (p.Lys608Gln) c.1033A>C (p.Lys345Gln) c.2860A>C (p.Lys954Gln) c.2287A>C (p.Lys763Gln) c.2212A>C (p.Lys738Gln) c.889A>C (p.Lys297Gln) | |
3 | g.38894883T= | CA1358718274 | SCN11A | c.2485A= (p.Lys829=) c.2305A= (p.Lys769=) c.2529A= (n.2529A=) c.2104A= (p.Lys702=) c.1822A= (p.Lys608=) c.1033A= (p.Lys345=) c.2860A= (p.Lys954=) c.2287A= (p.Lys763=) c.2212A= (p.Lys738=) c.889A= (p.Lys297=) | |
3 | g.38894884C>A | CA352175042 | SCN11A | c.2484G>T (p.Arg828Ser) c.2304G>T (p.Arg768Ser) c.2528G>T (n.2528G>T) c.2103G>T (p.Arg701Ser) c.1821G>T (p.Arg607Ser) c.1032G>T (p.Arg344Ser) c.2859G>T (p.Arg953Ser) c.2286G>T (p.Arg762Ser) c.2211G>T (p.Arg737Ser) c.888G>T (p.Arg296Ser) | |
3 | g.38894884C= | CA1358718275 | SCN11A | c.2484G= (p.Arg828=) c.2304G= (p.Arg768=) c.2528G= (n.2528G=) c.2103G= (p.Arg701=) c.1821G= (p.Arg607=) c.1032G= (p.Arg344=) c.2859G= (p.Arg953=) c.2286G= (p.Arg762=) c.2211G= (p.Arg737=) c.888G= (p.Arg296=) | |
3 | g.38894884C>G | CA352175043 | SCN11A | c.2484G>C (p.Arg828Ser) c.2304G>C (p.Arg768Ser) c.2528G>C (n.2528G>C) c.2103G>C (p.Arg701Ser) c.1821G>C (p.Arg607Ser) c.1032G>C (p.Arg344Ser) c.2859G>C (p.Arg953Ser) c.2286G>C (p.Arg762Ser) c.2211G>C (p.Arg737Ser) c.888G>C (p.Arg296Ser) | |
3 | g.38894884C>T | CA433336207 | SCN11A | c.2484G>A (p.Arg828=) c.2304G>A (p.Arg768=) c.2528G>A (n.2528G>A) c.2103G>A (p.Arg701=) c.1821G>A (p.Arg607=) c.1032G>A (p.Arg344=) c.2859G>A (p.Arg953=) c.2286G>A (p.Arg762=) c.2211G>A (p.Arg737=) c.888G>A (p.Arg296=) | dbSNP gnomAD v4 COSMIC |
3 | g.38894885C>A | CA352175045 | SCN11A | c.2483G>T (p.Arg828Met) c.2303G>T (p.Arg768Met) c.2527G>T (n.2527G>T) c.2102G>T (p.Arg701Met) c.1820G>T (p.Arg607Met) c.1031G>T (p.Arg344Met) c.2858G>T (p.Arg953Met) c.2285G>T (p.Arg762Met) c.2210G>T (p.Arg737Met) c.887G>T (p.Arg296Met) | |
3 | g.38894885C= | CA1358718276 | SCN11A | c.2483G= (p.Arg828=) c.2303G= (p.Arg768=) c.2527G= (n.2527G=) c.2102G= (p.Arg701=) c.1820G= (p.Arg607=) c.1031G= (p.Arg344=) c.2858G= (p.Arg953=) c.2285G= (p.Arg762=) c.2210G= (p.Arg737=) c.887G= (p.Arg296=) | |
3 | g.38894885C>G | CA352175046 | SCN11A | c.2483G>C (p.Arg828Thr) c.2303G>C (p.Arg768Thr) c.2527G>C (n.2527G>C) c.2102G>C (p.Arg701Thr) c.1820G>C (p.Arg607Thr) c.1031G>C (p.Arg344Thr) c.2858G>C (p.Arg953Thr) c.2285G>C (p.Arg762Thr) c.2210G>C (p.Arg737Thr) c.887G>C (p.Arg296Thr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38894885C>T | CA352175044 | SCN11A | c.2483G>A (p.Arg828Lys) c.2303G>A (p.Arg768Lys) c.2527G>A (n.2527G>A) c.2102G>A (p.Arg701Lys) c.1820G>A (p.Arg607Lys) c.1031G>A (p.Arg344Lys) c.2858G>A (p.Arg953Lys) c.2285G>A (p.Arg762Lys) c.2210G>A (p.Arg737Lys) c.887G>A (p.Arg296Lys) | |
3 | g.38894886T>A | CA352175047 | SCN11A | c.2482A>T (p.Arg828Trp) c.2302A>T (p.Arg768Trp) c.2526A>T (n.2526A>T) c.2101A>T (p.Arg701Trp) c.1819A>T (p.Arg607Trp) c.1030A>T (p.Arg344Trp) c.2857A>T (p.Arg953Trp) c.2284A>T (p.Arg762Trp) c.2209A>T (p.Arg737Trp) c.886A>T (p.Arg296Trp) | |
3 | g.38894886T>C | CA352175048 | SCN11A | c.2482A>G (p.Arg828Gly) c.2302A>G (p.Arg768Gly) c.2526A>G (n.2526A>G) c.2101A>G (p.Arg701Gly) c.1819A>G (p.Arg607Gly) c.1030A>G (p.Arg344Gly) c.2857A>G (p.Arg953Gly) c.2284A>G (p.Arg762Gly) c.2209A>G (p.Arg737Gly) c.886A>G (p.Arg296Gly) | |
3 | g.38894886T>G | CA433336208 | SCN11A | c.2482A>C (p.Arg828=) c.2302A>C (p.Arg768=) c.2526A>C (n.2526A>C) c.2101A>C (p.Arg701=) c.1819A>C (p.Arg607=) c.1030A>C (p.Arg344=) c.2857A>C (p.Arg953=) c.2284A>C (p.Arg762=) c.2209A>C (p.Arg737=) c.886A>C (p.Arg296=) | |
3 | g.38894887G>A | CA433336209 | SCN11A | c.2481C>T (p.Ala827=) c.2301C>T (p.Ala767=) c.2525C>T (n.2525C>T) c.2100C>T (p.Ala700=) c.1818C>T (p.Ala606=) c.1029C>T (p.Ala343=) c.2856C>T (p.Ala952=) c.2283C>T (p.Ala761=) c.2208C>T (p.Ala736=) c.885C>T (p.Ala295=) | gnomAD v4 |
3 | g.38894887G>C | CA433336210 | SCN11A | c.2481C>G (p.Ala827=) c.2301C>G (p.Ala767=) c.2525C>G (n.2525C>G) c.2100C>G (p.Ala700=) c.1818C>G (p.Ala606=) c.1029C>G (p.Ala343=) c.2856C>G (p.Ala952=) c.2283C>G (p.Ala761=) c.2208C>G (p.Ala736=) c.885C>G (p.Ala295=) | |
3 | g.38894887G>T | CA433336211 | SCN11A | c.2481C>A (p.Ala827=) c.2301C>A (p.Ala767=) c.2525C>A (n.2525C>A) c.2100C>A (p.Ala700=) c.1818C>A (p.Ala606=) c.1029C>A (p.Ala343=) c.2856C>A (p.Ala952=) c.2283C>A (p.Ala761=) c.2208C>A (p.Ala736=) c.885C>A (p.Ala295=) | |
3 | g.38894888del | CA2577554822 | SCN11A | c.2481del (p.Arg828GlyfsTer7) c.2301del (p.Arg768GlyfsTer7) c.2525del (n.2525del) c.2100del (p.Arg701GlyfsTer7) c.1818del (p.Arg607GlyfsTer7) c.1029del (p.Arg344GlyfsTer7) c.2856del (p.Arg953GlyfsTer7) c.2283del (p.Arg762GlyfsTer7) c.2208del (p.Arg737GlyfsTer7) c.885del (p.Arg296GlyfsTer7) | |
3 | g.38894888G>A | CA2322030 | SCN11A | c.2480C>T (p.Ala827Val) c.2300C>T (p.Ala767Val) c.2524C>T (n.2524C>T) c.2099C>T (p.Ala700Val) c.1817C>T (p.Ala606Val) c.1028C>T (p.Ala343Val) c.2855C>T (p.Ala952Val) c.2282C>T (p.Ala761Val) c.2207C>T (p.Ala736Val) c.884C>T (p.Ala295Val) | ClinVar dbSNP ExAC gnomAD v2 |
3 | g.38894888G>C | CA352175049 | SCN11A | c.2480C>G (p.Ala827Gly) c.2300C>G (p.Ala767Gly) c.2524C>G (n.2524C>G) c.2099C>G (p.Ala700Gly) c.1817C>G (p.Ala606Gly) c.1028C>G (p.Ala343Gly) c.2855C>G (p.Ala952Gly) c.2282C>G (p.Ala761Gly) c.2207C>G (p.Ala736Gly) c.884C>G (p.Ala295Gly) | |
3 | g.38894888G= | CA1358718277 | SCN11A | c.2480C= (p.Ala827=) c.2300C= (p.Ala767=) c.2524C= (n.2524C=) c.2099C= (p.Ala700=) c.1817C= (p.Ala606=) c.1028C= (p.Ala343=) c.2855C= (p.Ala952=) c.2282C= (p.Ala761=) c.2207C= (p.Ala736=) c.884C= (p.Ala295=) | |
3 | g.38894888G>T | CA352175050 | SCN11A | c.2480C>A (p.Ala827Asp) c.2300C>A (p.Ala767Asp) c.2524C>A (n.2524C>A) c.2099C>A (p.Ala700Asp) c.1817C>A (p.Ala606Asp) c.1028C>A (p.Ala343Asp) c.2855C>A (p.Ala952Asp) c.2282C>A (p.Ala761Asp) c.2207C>A (p.Ala736Asp) c.884C>A (p.Ala295Asp) | |
3 | g.38894889C>A | CA2322031 | SCN11A | c.2479G>T (p.Ala827Ser) c.2299G>T (p.Ala767Ser) c.2523G>T (n.2523G>T) c.2098G>T (p.Ala700Ser) c.1816G>T (p.Ala606Ser) c.1027G>T (p.Ala343Ser) c.2854G>T (p.Ala952Ser) c.2281G>T (p.Ala761Ser) c.2206G>T (p.Ala736Ser) c.883G>T (p.Ala295Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38894889C= | CA1358718278 | SCN11A | c.2479G= (p.Ala827=) c.2299G= (p.Ala767=) c.2523G= (n.2523G=) c.2098G= (p.Ala700=) c.1816G= (p.Ala606=) c.1027G= (p.Ala343=) c.2854G= (p.Ala952=) c.2281G= (p.Ala761=) c.2206G= (p.Ala736=) c.883G= (p.Ala295=) | |
3 | g.38894889C>G | CA352175052 | SCN11A | c.2479G>C (p.Ala827Pro) c.2299G>C (p.Ala767Pro) c.2523G>C (n.2523G>C) c.2098G>C (p.Ala700Pro) c.1816G>C (p.Ala606Pro) c.1027G>C (p.Ala343Pro) c.2854G>C (p.Ala952Pro) c.2281G>C (p.Ala761Pro) c.2206G>C (p.Ala736Pro) c.883G>C (p.Ala295Pro) | |
3 | g.38894889C>T | CA352175051 | SCN11A | c.2479G>A (p.Ala827Thr) c.2299G>A (p.Ala767Thr) c.2523G>A (n.2523G>A) c.2098G>A (p.Ala700Thr) c.1816G>A (p.Ala606Thr) c.1027G>A (p.Ala343Thr) c.2854G>A (p.Ala952Thr) c.2281G>A (p.Ala761Thr) c.2206G>A (p.Ala736Thr) c.883G>A (p.Ala295Thr) | gnomAD v4 |
3 | g.38894890C>A | CA352175053 | SCN11A | c.2478G>T (p.Glu826Asp) c.2298G>T (p.Glu766Asp) c.2522G>T (n.2522G>T) c.2097G>T (p.Glu699Asp) c.1815G>T (p.Glu605Asp) c.1026G>T (p.Glu342Asp) c.2853G>T (p.Glu951Asp) c.2280G>T (p.Glu760Asp) c.2205G>T (p.Glu735Asp) c.882G>T (p.Glu294Asp) | |
3 | g.38894890C= | CA1358718279 | SCN11A | c.2478G= (p.Glu826=) c.2298G= (p.Glu766=) c.2522G= (n.2522G=) c.2097G= (p.Glu699=) c.1815G= (p.Glu605=) c.1026G= (p.Glu342=) c.2853G= (p.Glu951=) c.2280G= (p.Glu760=) c.2205G= (p.Glu735=) c.882G= (p.Glu294=) | |
3 | g.38894890C>G | CA352175054 | SCN11A | c.2478G>C (p.Glu826Asp) c.2298G>C (p.Glu766Asp) c.2522G>C (n.2522G>C) c.2097G>C (p.Glu699Asp) c.1815G>C (p.Glu605Asp) c.1026G>C (p.Glu342Asp) c.2853G>C (p.Glu951Asp) c.2280G>C (p.Glu760Asp) c.2205G>C (p.Glu735Asp) c.882G>C (p.Glu294Asp) | |
3 | g.38894890C>T | CA2322032 | SCN11A | c.2478G>A (p.Glu826=) c.2298G>A (p.Glu766=) c.2522G>A (n.2522G>A) c.2097G>A (p.Glu699=) c.1815G>A (p.Glu605=) c.1026G>A (p.Glu342=) c.2853G>A (p.Glu951=) c.2280G>A (p.Glu760=) c.2205G>A (p.Glu735=) c.882G>A (p.Glu294=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894891T>A | CA352175055 | SCN11A | c.2477A>T (p.Glu826Val) c.2297A>T (p.Glu766Val) c.2521A>T (n.2521A>T) c.2096A>T (p.Glu699Val) c.1814A>T (p.Glu605Val) c.1025A>T (p.Glu342Val) c.2852A>T (p.Glu951Val) c.2279A>T (p.Glu760Val) c.2204A>T (p.Glu735Val) c.881A>T (p.Glu294Val) | |
3 | g.38894891T>C | CA352175056 | SCN11A | c.2477A>G (p.Glu826Gly) c.2297A>G (p.Glu766Gly) c.2521A>G (n.2521A>G) c.2096A>G (p.Glu699Gly) c.1814A>G (p.Glu605Gly) c.1025A>G (p.Glu342Gly) c.2852A>G (p.Glu951Gly) c.2279A>G (p.Glu760Gly) c.2204A>G (p.Glu735Gly) c.881A>G (p.Glu294Gly) | |
3 | g.38894891T>G | CA352175057 | SCN11A | c.2477A>C (p.Glu826Ala) c.2297A>C (p.Glu766Ala) c.2521A>C (n.2521A>C) c.2096A>C (p.Glu699Ala) c.1814A>C (p.Glu605Ala) c.1025A>C (p.Glu342Ala) c.2852A>C (p.Glu951Ala) c.2279A>C (p.Glu760Ala) c.2204A>C (p.Glu735Ala) c.881A>C (p.Glu294Ala) | |
3 | g.38894892C>A | CA352175058 | SCN11A | c.2476G>T (p.Glu826Ter) c.2296G>T (p.Glu766Ter) c.2520G>T (n.2520G>T) c.2095G>T (p.Glu699Ter) c.1813G>T (p.Glu605Ter) c.1024G>T (p.Glu342Ter) c.2851G>T (p.Glu951Ter) c.2278G>T (p.Glu760Ter) c.2203G>T (p.Glu735Ter) c.880G>T (p.Glu294Ter) | dbSNP gnomAD v4 |
3 | g.38894892C= | CA1358718280 | SCN11A | c.2476G= (p.Glu826=) c.2296G= (p.Glu766=) c.2520G= (n.2520G=) c.2095G= (p.Glu699=) c.1813G= (p.Glu605=) c.1024G= (p.Glu342=) c.2851G= (p.Glu951=) c.2278G= (p.Glu760=) c.2203G= (p.Glu735=) c.880G= (p.Glu294=) | |
3 | g.38894892C>G | CA352175060 | SCN11A | c.2476G>C (p.Glu826Gln) c.2296G>C (p.Glu766Gln) c.2520G>C (n.2520G>C) c.2095G>C (p.Glu699Gln) c.1813G>C (p.Glu605Gln) c.1024G>C (p.Glu342Gln) c.2851G>C (p.Glu951Gln) c.2278G>C (p.Glu760Gln) c.2203G>C (p.Glu735Gln) c.880G>C (p.Glu294Gln) | |
3 | g.38894892C>T | CA352175059 | SCN11A | c.2476G>A (p.Glu826Lys) c.2296G>A (p.Glu766Lys) c.2520G>A (n.2520G>A) c.2095G>A (p.Glu699Lys) c.1813G>A (p.Glu605Lys) c.1024G>A (p.Glu342Lys) c.2851G>A (p.Glu951Lys) c.2278G>A (p.Glu760Lys) c.2203G>A (p.Glu735Lys) c.880G>A (p.Glu294Lys) | |
3 | g.38894893T>A | CA433336214 | SCN11A | c.2475A>T (p.Gly825=) c.2295A>T (p.Gly765=) c.2519A>T (n.2519A>T) c.2094A>T (p.Gly698=) c.1812A>T (p.Gly604=) c.1023A>T (p.Gly341=) c.2850A>T (p.Gly950=) c.2277A>T (p.Gly759=) c.2202A>T (p.Gly734=) c.879A>T (p.Gly293=) | |
3 | g.38894893T>C | CA433336213 | SCN11A | c.2475A>G (p.Gly825=) c.2295A>G (p.Gly765=) c.2519A>G (n.2519A>G) c.2094A>G (p.Gly698=) c.1812A>G (p.Gly604=) c.1023A>G (p.Gly341=) c.2850A>G (p.Gly950=) c.2277A>G (p.Gly759=) c.2202A>G (p.Gly734=) c.879A>G (p.Gly293=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38894893T>G | CA433336212 | SCN11A | c.2475A>C (p.Gly825=) c.2295A>C (p.Gly765=) c.2519A>C (n.2519A>C) c.2094A>C (p.Gly698=) c.1812A>C (p.Gly604=) c.1023A>C (p.Gly341=) c.2850A>C (p.Gly950=) c.2277A>C (p.Gly759=) c.2202A>C (p.Gly734=) c.879A>C (p.Gly293=) | |
3 | g.38894893T= | CA1358718281 | SCN11A | c.2475A= (p.Gly825=) c.2295A= (p.Gly765=) c.2519A= (n.2519A=) c.2094A= (p.Gly698=) c.1812A= (p.Gly604=) c.1023A= (p.Gly341=) c.2850A= (p.Gly950=) c.2277A= (p.Gly759=) c.2202A= (p.Gly734=) c.879A= (p.Gly293=) | |
3 | g.38894894C>A | CA352175061 | SCN11A | c.2474G>T (p.Gly825Val) c.2294G>T (p.Gly765Val) c.2518G>T (n.2518G>T) c.2093G>T (p.Gly698Val) c.1811G>T (p.Gly604Val) c.1022G>T (p.Gly341Val) c.2849G>T (p.Gly950Val) c.2276G>T (p.Gly759Val) c.2201G>T (p.Gly734Val) c.878G>T (p.Gly293Val) | |
3 | g.38894894C= | CA1358718282 | SCN11A | c.2474G= (p.Gly825=) c.2294G= (p.Gly765=) c.2518G= (n.2518G=) c.2093G= (p.Gly698=) c.1811G= (p.Gly604=) c.1022G= (p.Gly341=) c.2849G= (p.Gly950=) c.2276G= (p.Gly759=) c.2201G= (p.Gly734=) c.878G= (p.Gly293=) | |
3 | g.38894894C>G | CA352175062 | SCN11A | c.2474G>C (p.Gly825Ala) c.2294G>C (p.Gly765Ala) c.2518G>C (n.2518G>C) c.2093G>C (p.Gly698Ala) c.1811G>C (p.Gly604Ala) c.1022G>C (p.Gly341Ala) c.2849G>C (p.Gly950Ala) c.2276G>C (p.Gly759Ala) c.2201G>C (p.Gly734Ala) c.878G>C (p.Gly293Ala) | |
3 | g.38894894C>T | CA352175063 | SCN11A | c.2474G>A (p.Gly825Glu) c.2294G>A (p.Gly765Glu) c.2518G>A (n.2518G>A) c.2093G>A (p.Gly698Glu) c.1811G>A (p.Gly604Glu) c.1022G>A (p.Gly341Glu) c.2849G>A (p.Gly950Glu) c.2276G>A (p.Gly759Glu) c.2201G>A (p.Gly734Glu) c.878G>A (p.Gly293Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.38894894_38894897delinsCCTT | CA1358718283 | SCN11A | c.2471_2474delinsAAGG (p.Glu824=) c.2291_2294delinsAAGG (p.Glu764=) c.2515_2518delinsAAGG (n.2515_2518delinsAAGG) c.2090_2093delinsAAGG (p.Glu697=) c.1808_1811delinsAAGG (p.Glu603=) c.1019_1022delinsAAGG (p.Glu340=) c.2846_2849delinsAAGG (p.Glu949=) c.2273_2276delinsAAGG (p.Glu758=) c.2198_2201delinsAAGG (p.Glu733=) c.875_878delinsAAGG (p.Glu292=) | |
3 | g.38894895C>A | CA352175064 | SCN11A | c.2473G>T (p.Gly825Ter) c.2293G>T (p.Gly765Ter) c.2517G>T (n.2517G>T) c.2092G>T (p.Gly698Ter) c.1810G>T (p.Gly604Ter) c.1021G>T (p.Gly341Ter) c.2848G>T (p.Gly950Ter) c.2275G>T (p.Gly759Ter) c.2200G>T (p.Gly734Ter) c.877G>T (p.Gly293Ter) | dbSNP COSMIC |
3 | g.38894895C= | CA1358718284 | SCN11A | c.2473G= (p.Gly825=) c.2293G= (p.Gly765=) c.2517G= (n.2517G=) c.2092G= (p.Gly698=) c.1810G= (p.Gly604=) c.1021G= (p.Gly341=) c.2848G= (p.Gly950=) c.2275G= (p.Gly759=) c.2200G= (p.Gly734=) c.877G= (p.Gly293=) | |
3 | g.38894895C>G | CA352175065 | SCN11A | c.2473G>C (p.Gly825Arg) c.2293G>C (p.Gly765Arg) c.2517G>C (n.2517G>C) c.2092G>C (p.Gly698Arg) c.1810G>C (p.Gly604Arg) c.1021G>C (p.Gly341Arg) c.2848G>C (p.Gly950Arg) c.2275G>C (p.Gly759Arg) c.2200G>C (p.Gly734Arg) c.877G>C (p.Gly293Arg) | |
3 | g.38894895C>T | CA352175066 | SCN11A | c.2473G>A (p.Gly825Arg) c.2293G>A (p.Gly765Arg) c.2517G>A (n.2517G>A) c.2092G>A (p.Gly698Arg) c.1810G>A (p.Gly604Arg) c.1021G>A (p.Gly341Arg) c.2848G>A (p.Gly950Arg) c.2275G>A (p.Gly759Arg) c.2200G>A (p.Gly734Arg) c.877G>A (p.Gly293Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894897_38894899del | CA906910322 | SCN11A | c.2471_2473del (p.Glu824del) c.2291_2293del (p.Glu764del) c.2515_2517del (n.2515_2517del) c.2090_2092del (p.Glu697del) c.1808_1810del (p.Glu603del) c.1019_1021del (p.Glu340del) c.2846_2848del (p.Glu949del) c.2273_2275del (p.Glu758del) c.2198_2200del (p.Glu733del) c.875_877del (p.Glu292del) | dbSNP |
3 | g.38894896T>A | CA352175067 | SCN11A | c.2472A>T (p.Glu824Asp) c.2292A>T (p.Glu764Asp) c.2516A>T (n.2516A>T) c.2091A>T (p.Glu697Asp) c.1809A>T (p.Glu603Asp) c.1020A>T (p.Glu340Asp) c.2847A>T (p.Glu949Asp) c.2274A>T (p.Glu758Asp) c.2199A>T (p.Glu733Asp) c.876A>T (p.Glu292Asp) | |
3 | g.38894896T>C | CA433336215 | SCN11A | c.2472A>G (p.Glu824=) c.2292A>G (p.Glu764=) c.2516A>G (n.2516A>G) c.2091A>G (p.Glu697=) c.1809A>G (p.Glu603=) c.1020A>G (p.Glu340=) c.2847A>G (p.Glu949=) c.2274A>G (p.Glu758=) c.2199A>G (p.Glu733=) c.876A>G (p.Glu292=) | |
3 | g.38894896T>G | CA352175068 | SCN11A | c.2472A>C (p.Glu824Asp) c.2292A>C (p.Glu764Asp) c.2516A>C (n.2516A>C) c.2091A>C (p.Glu697Asp) c.1809A>C (p.Glu603Asp) c.1020A>C (p.Glu340Asp) c.2847A>C (p.Glu949Asp) c.2274A>C (p.Glu758Asp) c.2199A>C (p.Glu733Asp) c.876A>C (p.Glu292Asp) | |
3 | g.38894897T>A | CA352175069 | SCN11A | c.2471A>T (p.Glu824Val) c.2291A>T (p.Glu764Val) c.2515A>T (n.2515A>T) c.2090A>T (p.Glu697Val) c.1808A>T (p.Glu603Val) c.1019A>T (p.Glu340Val) c.2846A>T (p.Glu949Val) c.2273A>T (p.Glu758Val) c.2198A>T (p.Glu733Val) c.875A>T (p.Glu292Val) | |
3 | g.38894897T>C | CA352175070 | SCN11A | c.2471A>G (p.Glu824Gly) c.2291A>G (p.Glu764Gly) c.2515A>G (n.2515A>G) c.2090A>G (p.Glu697Gly) c.1808A>G (p.Glu603Gly) c.1019A>G (p.Glu340Gly) c.2846A>G (p.Glu949Gly) c.2273A>G (p.Glu758Gly) c.2198A>G (p.Glu733Gly) c.875A>G (p.Glu292Gly) | gnomAD v4 |
3 | g.38894897T>G | CA352175071 | SCN11A | c.2471A>C (p.Glu824Ala) c.2291A>C (p.Glu764Ala) c.2515A>C (n.2515A>C) c.2090A>C (p.Glu697Ala) c.1808A>C (p.Glu603Ala) c.1019A>C (p.Glu340Ala) c.2846A>C (p.Glu949Ala) c.2273A>C (p.Glu758Ala) c.2198A>C (p.Glu733Ala) c.875A>C (p.Glu292Ala) | |
3 | g.38894898C>A | CA352175073 | SCN11A | c.2470G>T (p.Glu824Ter) c.2290G>T (p.Glu764Ter) c.2514G>T (n.2514G>T) c.2089G>T (p.Glu697Ter) c.1807G>T (p.Glu603Ter) c.1018G>T (p.Glu340Ter) c.2845G>T (p.Glu949Ter) c.2272G>T (p.Glu758Ter) c.2197G>T (p.Glu733Ter) c.874G>T (p.Glu292Ter) | dbSNP |
3 | g.38894898C= | CA1358718285 | SCN11A | c.2470G= (p.Glu824=) c.2290G= (p.Glu764=) c.2514G= (n.2514G=) c.2089G= (p.Glu697=) c.1807G= (p.Glu603=) c.1018G= (p.Glu340=) c.2845G= (p.Glu949=) c.2272G= (p.Glu758=) c.2197G= (p.Glu733=) c.874G= (p.Glu292=) | |
3 | g.38894898C>G | CA352175072 | SCN11A | c.2470G>C (p.Glu824Gln) c.2290G>C (p.Glu764Gln) c.2514G>C (n.2514G>C) c.2089G>C (p.Glu697Gln) c.1807G>C (p.Glu603Gln) c.1018G>C (p.Glu340Gln) c.2845G>C (p.Glu949Gln) c.2272G>C (p.Glu758Gln) c.2197G>C (p.Glu733Gln) c.874G>C (p.Glu292Gln) | gnomAD v4 |
3 | g.38894898C>T | CA72997863 | SCN11A | c.2470G>A (p.Glu824Lys) c.2290G>A (p.Glu764Lys) c.2514G>A (n.2514G>A) c.2089G>A (p.Glu697Lys) c.1807G>A (p.Glu603Lys) c.1018G>A (p.Glu340Lys) c.2845G>A (p.Glu949Lys) c.2272G>A (p.Glu758Lys) c.2197G>A (p.Glu733Lys) c.874G>A (p.Glu292Lys) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38894899T>A | CA352175074 | SCN11A | c.2469A>T (p.Leu823Phe) c.2289A>T (p.Leu763Phe) c.2513A>T (n.2513A>T) c.2088A>T (p.Leu696Phe) c.1806A>T (p.Leu602Phe) c.1017A>T (p.Leu339Phe) c.2844A>T (p.Leu948Phe) c.2271A>T (p.Leu757Phe) c.2196A>T (p.Leu732Phe) c.873A>T (p.Leu291Phe) | |
3 | g.38894899T>C | CA433336216 | SCN11A | c.2469A>G (p.Leu823=) c.2289A>G (p.Leu763=) c.2513A>G (n.2513A>G) c.2088A>G (p.Leu696=) c.1806A>G (p.Leu602=) c.1017A>G (p.Leu339=) c.2844A>G (p.Leu948=) c.2271A>G (p.Leu757=) c.2196A>G (p.Leu732=) c.873A>G (p.Leu291=) | |
3 | g.38894899T>G | CA352175075 | SCN11A | c.2469A>C (p.Leu823Phe) c.2289A>C (p.Leu763Phe) c.2513A>C (n.2513A>C) c.2088A>C (p.Leu696Phe) c.1806A>C (p.Leu602Phe) c.1017A>C (p.Leu339Phe) c.2844A>C (p.Leu948Phe) c.2271A>C (p.Leu757Phe) c.2196A>C (p.Leu732Phe) c.873A>C (p.Leu291Phe) | dbSNP |
3 | g.38894899T= | CA1358718286 | SCN11A | c.2469A= (p.Leu823=) c.2289A= (p.Leu763=) c.2513A= (n.2513A=) c.2088A= (p.Leu696=) c.1806A= (p.Leu602=) c.1017A= (p.Leu339=) c.2844A= (p.Leu948=) c.2271A= (p.Leu757=) c.2196A= (p.Leu732=) c.873A= (p.Leu291=) | |
3 | g.38894900A= | CA1358718287 | SCN11A | c.2468T= (p.Leu823=) c.2288T= (p.Leu763=) c.2512T= (n.2512T=) c.2087T= (p.Leu696=) c.1805T= (p.Leu602=) c.1016T= (p.Leu339=) c.2843T= (p.Leu948=) c.2270T= (p.Leu757=) c.2195T= (p.Leu732=) c.872T= (p.Leu291=) | |
3 | g.38894900A>C | CA352175076 | SCN11A | c.2468T>G (p.Leu823Ter) c.2288T>G (p.Leu763Ter) c.2512T>G (n.2512T>G) c.2087T>G (p.Leu696Ter) c.1805T>G (p.Leu602Ter) c.1016T>G (p.Leu339Ter) c.2843T>G (p.Leu948Ter) c.2270T>G (p.Leu757Ter) c.2195T>G (p.Leu732Ter) c.872T>G (p.Leu291Ter) | |
3 | g.38894900A>G | CA352175077 | SCN11A | c.2468T>C (p.Leu823Ser) c.2288T>C (p.Leu763Ser) c.2512T>C (n.2512T>C) c.2087T>C (p.Leu696Ser) c.1805T>C (p.Leu602Ser) c.1016T>C (p.Leu339Ser) c.2843T>C (p.Leu948Ser) c.2270T>C (p.Leu757Ser) c.2195T>C (p.Leu732Ser) c.872T>C (p.Leu291Ser) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38894900A>T | CA352175078 | SCN11A | c.2468T>A (p.Leu823Ter) c.2288T>A (p.Leu763Ter) c.2512T>A (n.2512T>A) c.2087T>A (p.Leu696Ter) c.1805T>A (p.Leu602Ter) c.1016T>A (p.Leu339Ter) c.2843T>A (p.Leu948Ter) c.2270T>A (p.Leu757Ter) c.2195T>A (p.Leu732Ter) c.872T>A (p.Leu291Ter) | |
3 | g.38894901A>C | CA352175079 | SCN11A | c.2467T>G (p.Leu823Val) c.2287T>G (p.Leu763Val) c.2511T>G (n.2511T>G) c.2086T>G (p.Leu696Val) c.1804T>G (p.Leu602Val) c.1015T>G (p.Leu339Val) c.2842T>G (p.Leu948Val) c.2269T>G (p.Leu757Val) c.2194T>G (p.Leu732Val) c.871T>G (p.Leu291Val) | |
3 | g.38894901A>G | CA433336217 | SCN11A | c.2467T>C (p.Leu823=) c.2287T>C (p.Leu763=) c.2511T>C (n.2511T>C) c.2086T>C (p.Leu696=) c.1804T>C (p.Leu602=) c.1015T>C (p.Leu339=) c.2842T>C (p.Leu948=) c.2269T>C (p.Leu757=) c.2194T>C (p.Leu732=) c.871T>C (p.Leu291=) | |
3 | g.38894901A>T | CA352175080 | SCN11A | c.2467T>A (p.Leu823Ile) c.2287T>A (p.Leu763Ile) c.2511T>A (n.2511T>A) c.2086T>A (p.Leu696Ile) c.1804T>A (p.Leu602Ile) c.1015T>A (p.Leu339Ile) c.2842T>A (p.Leu948Ile) c.2269T>A (p.Leu757Ile) c.2194T>A (p.Leu732Ile) c.871T>A (p.Leu291Ile) | |
3 | g.38894902G>A | CA433336218 | SCN11A | c.2466C>T (p.Asn822=) c.2286C>T (p.Asn762=) c.2510C>T (n.2510C>T) c.2085C>T (p.Asn695=) c.1803C>T (p.Asn601=) c.1014C>T (p.Asn338=) c.2841C>T (p.Asn947=) c.2268C>T (p.Asn756=) c.2193C>T (p.Asn731=) c.870C>T (p.Asn290=) | gnomAD v4 |
3 | g.38894902G>C | CA352175081 | SCN11A | c.2466C>G (p.Asn822Lys) c.2286C>G (p.Asn762Lys) c.2510C>G (n.2510C>G) c.2085C>G (p.Asn695Lys) c.1803C>G (p.Asn601Lys) c.1014C>G (p.Asn338Lys) c.2841C>G (p.Asn947Lys) c.2268C>G (p.Asn756Lys) c.2193C>G (p.Asn731Lys) c.870C>G (p.Asn290Lys) | |
3 | g.38894902G>T | CA352175082 | SCN11A | c.2466C>A (p.Asn822Lys) c.2286C>A (p.Asn762Lys) c.2510C>A (n.2510C>A) c.2085C>A (p.Asn695Lys) c.1803C>A (p.Asn601Lys) c.1014C>A (p.Asn338Lys) c.2841C>A (p.Asn947Lys) c.2268C>A (p.Asn756Lys) c.2193C>A (p.Asn731Lys) c.870C>A (p.Asn290Lys) | |
3 | g.38894903T>A | CA352175083 | SCN11A | c.2465A>T (p.Asn822Ile) c.2285A>T (p.Asn762Ile) c.2509A>T (n.2509A>T) c.2084A>T (p.Asn695Ile) c.1802A>T (p.Asn601Ile) c.1013A>T (p.Asn338Ile) c.2840A>T (p.Asn947Ile) c.2267A>T (p.Asn756Ile) c.2192A>T (p.Asn731Ile) c.869A>T (p.Asn290Ile) | |
3 | g.38894903T>C | CA352175084 | SCN11A | c.2465A>G (p.Asn822Ser) c.2285A>G (p.Asn762Ser) c.2509A>G (n.2509A>G) c.2084A>G (p.Asn695Ser) c.1802A>G (p.Asn601Ser) c.1013A>G (p.Asn338Ser) c.2840A>G (p.Asn947Ser) c.2267A>G (p.Asn756Ser) c.2192A>G (p.Asn731Ser) c.869A>G (p.Asn290Ser) | |
3 | g.38894903T>G | CA352175085 | SCN11A | c.2465A>C (p.Asn822Thr) c.2285A>C (p.Asn762Thr) c.2509A>C (n.2509A>C) c.2084A>C (p.Asn695Thr) c.1802A>C (p.Asn601Thr) c.1013A>C (p.Asn338Thr) c.2840A>C (p.Asn947Thr) c.2267A>C (p.Asn756Thr) c.2192A>C (p.Asn731Thr) c.869A>C (p.Asn290Thr) | |
3 | g.38894904T>A | CA352175086 | SCN11A | c.2464A>T (p.Asn822Tyr) c.2284A>T (p.Asn762Tyr) c.2508A>T (n.2508A>T) c.2083A>T (p.Asn695Tyr) c.1801A>T (p.Asn601Tyr) c.1012A>T (p.Asn338Tyr) c.2839A>T (p.Asn947Tyr) c.2266A>T (p.Asn756Tyr) c.2191A>T (p.Asn731Tyr) c.868A>T (p.Asn290Tyr) | |
3 | g.38894904T>C | CA352175087 | SCN11A | c.2464A>G (p.Asn822Asp) c.2284A>G (p.Asn762Asp) c.2508A>G (n.2508A>G) c.2083A>G (p.Asn695Asp) c.1801A>G (p.Asn601Asp) c.1012A>G (p.Asn338Asp) c.2839A>G (p.Asn947Asp) c.2266A>G (p.Asn756Asp) c.2191A>G (p.Asn731Asp) c.868A>G (p.Asn290Asp) | COSMIC |
3 | g.38894904T>G | CA352175088 | SCN11A | c.2464A>C (p.Asn822His) c.2284A>C (p.Asn762His) c.2508A>C (n.2508A>C) c.2083A>C (p.Asn695His) c.1801A>C (p.Asn601His) c.1012A>C (p.Asn338His) c.2839A>C (p.Asn947His) c.2266A>C (p.Asn756His) c.2191A>C (p.Asn731His) c.868A>C (p.Asn290His) | |
3 | g.38894905T>A | CA433336219 | SCN11A | c.2463A>T (p.Gly821=) c.2283A>T (p.Gly761=) c.2507A>T (n.2507A>T) c.2082A>T (p.Gly694=) c.1800A>T (p.Gly600=) c.1011A>T (p.Gly337=) c.2838A>T (p.Gly946=) c.2265A>T (p.Gly755=) c.2190A>T (p.Gly730=) c.867A>T (p.Gly289=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894905T>C | CA433336220 | SCN11A | c.2463A>G (p.Gly821=) c.2283A>G (p.Gly761=) c.2507A>G (n.2507A>G) c.2082A>G (p.Gly694=) c.1800A>G (p.Gly600=) c.1011A>G (p.Gly337=) c.2838A>G (p.Gly946=) c.2265A>G (p.Gly755=) c.2190A>G (p.Gly730=) c.867A>G (p.Gly289=) | gnomAD v4 |
3 | g.38894905T>G | CA433336221 | SCN11A | c.2463A>C (p.Gly821=) c.2283A>C (p.Gly761=) c.2507A>C (n.2507A>C) c.2082A>C (p.Gly694=) c.1800A>C (p.Gly600=) c.1011A>C (p.Gly337=) c.2838A>C (p.Gly946=) c.2265A>C (p.Gly755=) c.2190A>C (p.Gly730=) c.867A>C (p.Gly289=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38894905T= | CA1358718288 | SCN11A | c.2463A= (p.Gly821=) c.2283A= (p.Gly761=) c.2507A= (n.2507A=) c.2082A= (p.Gly694=) c.1800A= (p.Gly600=) c.1011A= (p.Gly337=) c.2838A= (p.Gly946=) c.2265A= (p.Gly755=) c.2190A= (p.Gly730=) c.867A= (p.Gly289=) | |
3 | g.38894906C>A | CA352175089 | SCN11A | c.2462G>T (p.Gly821Val) c.2282G>T (p.Gly761Val) c.2506G>T (n.2506G>T) c.2081G>T (p.Gly694Val) c.1799G>T (p.Gly600Val) c.1010G>T (p.Gly337Val) c.2837G>T (p.Gly946Val) c.2264G>T (p.Gly755Val) c.2189G>T (p.Gly730Val) c.866G>T (p.Gly289Val) | gnomAD v4 |
3 | g.38894906C>G | CA352175091 | SCN11A | c.2462G>C (p.Gly821Ala) c.2282G>C (p.Gly761Ala) c.2506G>C (n.2506G>C) c.2081G>C (p.Gly694Ala) c.1799G>C (p.Gly600Ala) c.1010G>C (p.Gly337Ala) c.2837G>C (p.Gly946Ala) c.2264G>C (p.Gly755Ala) c.2189G>C (p.Gly730Ala) c.866G>C (p.Gly289Ala) | |
3 | g.38894906C>T | CA352175090 | SCN11A | c.2462G>A (p.Gly821Glu) c.2282G>A (p.Gly761Glu) c.2506G>A (n.2506G>A) c.2081G>A (p.Gly694Glu) c.1799G>A (p.Gly600Glu) c.1010G>A (p.Gly337Glu) c.2837G>A (p.Gly946Glu) c.2264G>A (p.Gly755Glu) c.2189G>A (p.Gly730Glu) c.866G>A (p.Gly289Glu) | ClinVar gnomAD v4 COSMIC |
3 | g.38894907C>A | CA352175092 | SCN11A | c.2461G>T (p.Gly821Ter) c.2281G>T (p.Gly761Ter) c.2505G>T (n.2505G>T) c.2080G>T (p.Gly694Ter) c.1798G>T (p.Gly600Ter) c.1009G>T (p.Gly337Ter) c.2836G>T (p.Gly946Ter) c.2263G>T (p.Gly755Ter) c.2188G>T (p.Gly730Ter) c.865G>T (p.Gly289Ter) | dbSNP |
3 | g.38894907C= | CA1358718289 | SCN11A | c.2461G= (p.Gly821=) c.2281G= (p.Gly761=) c.2505G= (n.2505G=) c.2080G= (p.Gly694=) c.1798G= (p.Gly600=) c.1009G= (p.Gly337=) c.2836G= (p.Gly946=) c.2263G= (p.Gly755=) c.2188G= (p.Gly730=) c.865G= (p.Gly289=) | |
3 | g.38894907C>G | CA352175093 | SCN11A | c.2461G>C (p.Gly821Arg) c.2281G>C (p.Gly761Arg) c.2505G>C (n.2505G>C) c.2080G>C (p.Gly694Arg) c.1798G>C (p.Gly600Arg) c.1009G>C (p.Gly337Arg) c.2836G>C (p.Gly946Arg) c.2263G>C (p.Gly755Arg) c.2188G>C (p.Gly730Arg) c.865G>C (p.Gly289Arg) | |
3 | g.38894907C>T | CA352175094 | SCN11A | c.2461G>A (p.Gly821Arg) c.2281G>A (p.Gly761Arg) c.2505G>A (n.2505G>A) c.2080G>A (p.Gly694Arg) c.1798G>A (p.Gly600Arg) c.1009G>A (p.Gly337Arg) c.2836G>A (p.Gly946Arg) c.2263G>A (p.Gly755Arg) c.2188G>A (p.Gly730Arg) c.865G>A (p.Gly289Arg) | |
3 | g.38894908A>C | CA352175095 | SCN11A | c.2460T>G (p.Asn820Lys) c.2280T>G (p.Asn760Lys) c.2504T>G (n.2504T>G) c.2079T>G (p.Asn693Lys) c.1797T>G (p.Asn599Lys) c.1008T>G (p.Asn336Lys) c.2835T>G (p.Asn945Lys) c.2262T>G (p.Asn754Lys) c.2187T>G (p.Asn729Lys) c.864T>G (p.Asn288Lys) | |
3 | g.38894908A>G | CA433336222 | SCN11A | c.2460T>C (p.Asn820=) c.2280T>C (p.Asn760=) c.2504T>C (n.2504T>C) c.2079T>C (p.Asn693=) c.1797T>C (p.Asn599=) c.1008T>C (p.Asn336=) c.2835T>C (p.Asn945=) c.2262T>C (p.Asn754=) c.2187T>C (p.Asn729=) c.864T>C (p.Asn288=) | |
3 | g.38894908A>T | CA352175096 | SCN11A | c.2460T>A (p.Asn820Lys) c.2280T>A (p.Asn760Lys) c.2504T>A (n.2504T>A) c.2079T>A (p.Asn693Lys) c.1797T>A (p.Asn599Lys) c.1008T>A (p.Asn336Lys) c.2835T>A (p.Asn945Lys) c.2262T>A (p.Asn754Lys) c.2187T>A (p.Asn729Lys) c.864T>A (p.Asn288Lys) | |
3 | g.38894909T>A | CA352175097 | SCN11A | c.2459A>T (p.Asn820Ile) c.2279A>T (p.Asn760Ile) c.2503A>T (n.2503A>T) c.2078A>T (p.Asn693Ile) c.1796A>T (p.Asn599Ile) c.1007A>T (p.Asn336Ile) c.2834A>T (p.Asn945Ile) c.2261A>T (p.Asn754Ile) c.2186A>T (p.Asn729Ile) c.863A>T (p.Asn288Ile) | dbSNP |
3 | g.38894909T>C | CA352175098 | SCN11A | c.2459A>G (p.Asn820Ser) c.2279A>G (p.Asn760Ser) c.2503A>G (n.2503A>G) c.2078A>G (p.Asn693Ser) c.1796A>G (p.Asn599Ser) c.1007A>G (p.Asn336Ser) c.2834A>G (p.Asn945Ser) c.2261A>G (p.Asn754Ser) c.2186A>G (p.Asn729Ser) c.863A>G (p.Asn288Ser) | ClinVar |
3 | g.38894909T>G | CA352175099 | SCN11A | c.2459A>C (p.Asn820Thr) c.2279A>C (p.Asn760Thr) c.2503A>C (n.2503A>C) c.2078A>C (p.Asn693Thr) c.1796A>C (p.Asn599Thr) c.1007A>C (p.Asn336Thr) c.2834A>C (p.Asn945Thr) c.2261A>C (p.Asn754Thr) c.2186A>C (p.Asn729Thr) c.863A>C (p.Asn288Thr) | |
3 | g.38894909T= | CA1358718290 | SCN11A | c.2459A= (p.Asn820=) c.2279A= (p.Asn760=) c.2503A= (n.2503A=) c.2078A= (p.Asn693=) c.1796A= (p.Asn599=) c.1007A= (p.Asn336=) c.2834A= (p.Asn945=) c.2261A= (p.Asn754=) c.2186A= (p.Asn729=) c.863A= (p.Asn288=) | |
3 | g.38894909_38894911del | CA2665127324 | SCN11A | c.2457_2459del (p.Arg819_Asn820delinsSer) c.2277_2279del (p.Arg759_Asn760delinsSer) c.2501_2503del (n.2501_2503del) c.2076_2078del (p.Arg692_Asn693delinsSer) c.1794_1796del (p.Arg598_Asn599delinsSer) c.1005_1007del (p.Arg335_Asn336delinsSer) c.2832_2834del (p.Arg944_Asn945delinsSer) c.2259_2261del (p.Arg753_Asn754delinsSer) c.2184_2186del (p.Arg728_Asn729delinsSer) c.861_863del (p.Arg287_Asn288delinsSer) | gnomAD v4 |
3 | g.38894910T>A | CA2322033 | SCN11A | c.2458A>T (p.Asn820Tyr) c.2278A>T (p.Asn760Tyr) c.2502A>T (n.2502A>T) c.2077A>T (p.Asn693Tyr) c.1795A>T (p.Asn599Tyr) c.1006A>T (p.Asn336Tyr) c.2833A>T (p.Asn945Tyr) c.2260A>T (p.Asn754Tyr) c.2185A>T (p.Asn729Tyr) c.862A>T (p.Asn288Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894910T>C | CA352175100 | SCN11A | c.2458A>G (p.Asn820Asp) c.2278A>G (p.Asn760Asp) c.2502A>G (n.2502A>G) c.2077A>G (p.Asn693Asp) c.1795A>G (p.Asn599Asp) c.1006A>G (p.Asn336Asp) c.2833A>G (p.Asn945Asp) c.2260A>G (p.Asn754Asp) c.2185A>G (p.Asn729Asp) c.862A>G (p.Asn288Asp) | |
3 | g.38894910T>G | CA352175101 | SCN11A | c.2458A>C (p.Asn820His) c.2278A>C (p.Asn760His) c.2502A>C (n.2502A>C) c.2077A>C (p.Asn693His) c.1795A>C (p.Asn599His) c.1006A>C (p.Asn336His) c.2833A>C (p.Asn945His) c.2260A>C (p.Asn754His) c.2185A>C (p.Asn729His) c.862A>C (p.Asn288His) | |
3 | g.38894910T= | CA1358718291 | SCN11A | c.2458A= (p.Asn820=) c.2278A= (p.Asn760=) c.2502A= (n.2502A=) c.2077A= (p.Asn693=) c.1795A= (p.Asn599=) c.1006A= (p.Asn336=) c.2833A= (p.Asn945=) c.2260A= (p.Asn754=) c.2185A= (p.Asn729=) c.862A= (p.Asn288=) | |
3 | g.38894911T>A | CA352175103 | SCN11A | c.2457A>T (p.Arg819Ser) c.2277A>T (p.Arg759Ser) c.2501A>T (n.2501A>T) c.2076A>T (p.Arg692Ser) c.1794A>T (p.Arg598Ser) c.1005A>T (p.Arg335Ser) c.2832A>T (p.Arg944Ser) c.2259A>T (p.Arg753Ser) c.2184A>T (p.Arg728Ser) c.861A>T (p.Arg287Ser) | |
3 | g.38894911T>C | CA433336223 | SCN11A | c.2457A>G (p.Arg819=) c.2277A>G (p.Arg759=) c.2501A>G (n.2501A>G) c.2076A>G (p.Arg692=) c.1794A>G (p.Arg598=) c.1005A>G (p.Arg335=) c.2832A>G (p.Arg944=) c.2259A>G (p.Arg753=) c.2184A>G (p.Arg728=) c.861A>G (p.Arg287=) | |
3 | g.38894911T>G | CA352175102 | SCN11A | c.2457A>C (p.Arg819Ser) c.2277A>C (p.Arg759Ser) c.2501A>C (n.2501A>C) c.2076A>C (p.Arg692Ser) c.1794A>C (p.Arg598Ser) c.1005A>C (p.Arg335Ser) c.2832A>C (p.Arg944Ser) c.2259A>C (p.Arg753Ser) c.2184A>C (p.Arg728Ser) c.861A>C (p.Arg287Ser) | |
3 | g.38894912C>A | CA352175104 | SCN11A | c.2456G>T (p.Arg819Ile) c.2276G>T (p.Arg759Ile) c.2500G>T (n.2500G>T) c.2075G>T (p.Arg692Ile) c.1793G>T (p.Arg598Ile) c.1004G>T (p.Arg335Ile) c.2831G>T (p.Arg944Ile) c.2258G>T (p.Arg753Ile) c.2183G>T (p.Arg728Ile) c.860G>T (p.Arg287Ile) | gnomAD v4 COSMIC |
3 | g.38894912C>G | CA352175105 | SCN11A | c.2456G>C (p.Arg819Thr) c.2276G>C (p.Arg759Thr) c.2500G>C (n.2500G>C) c.2075G>C (p.Arg692Thr) c.1793G>C (p.Arg598Thr) c.1004G>C (p.Arg335Thr) c.2831G>C (p.Arg944Thr) c.2258G>C (p.Arg753Thr) c.2183G>C (p.Arg728Thr) c.860G>C (p.Arg287Thr) | |
3 | g.38894912C>T | CA352175106 | SCN11A | c.2456G>A (p.Arg819Lys) c.2276G>A (p.Arg759Lys) c.2500G>A (n.2500G>A) c.2075G>A (p.Arg692Lys) c.1793G>A (p.Arg598Lys) c.1004G>A (p.Arg335Lys) c.2831G>A (p.Arg944Lys) c.2258G>A (p.Arg753Lys) c.2183G>A (p.Arg728Lys) c.860G>A (p.Arg287Lys) | COSMIC |
3 | g.38894913T>A | CA352175107 | SCN11A | c.2455A>T (p.Arg819Ter) c.2275A>T (p.Arg759Ter) c.2499A>T (n.2499A>T) c.2074A>T (p.Arg692Ter) c.1792A>T (p.Arg598Ter) c.1003A>T (p.Arg335Ter) c.2830A>T (p.Arg944Ter) c.2257A>T (p.Arg753Ter) c.2182A>T (p.Arg728Ter) c.859A>T (p.Arg287Ter) | dbSNP |
3 | g.38894913T>C | CA352175108 | SCN11A | c.2455A>G (p.Arg819Gly) c.2275A>G (p.Arg759Gly) c.2499A>G (n.2499A>G) c.2074A>G (p.Arg692Gly) c.1792A>G (p.Arg598Gly) c.1003A>G (p.Arg335Gly) c.2830A>G (p.Arg944Gly) c.2257A>G (p.Arg753Gly) c.2182A>G (p.Arg728Gly) c.859A>G (p.Arg287Gly) | ClinVar dbSNP gnomAD v4 |
3 | g.38894913T>G | CA433336224 | SCN11A | c.2455A>C (p.Arg819=) c.2275A>C (p.Arg759=) c.2499A>C (n.2499A>C) c.2074A>C (p.Arg692=) c.1792A>C (p.Arg598=) c.1003A>C (p.Arg335=) c.2830A>C (p.Arg944=) c.2257A>C (p.Arg753=) c.2182A>C (p.Arg728=) c.859A>C (p.Arg287=) | |
3 | g.38894913T= | CA1358718292 | SCN11A | c.2455A= (p.Arg819=) c.2275A= (p.Arg759=) c.2499A= (n.2499A=) c.2074A= (p.Arg692=) c.1792A= (p.Arg598=) c.1003A= (p.Arg335=) c.2830A= (p.Arg944=) c.2257A= (p.Arg753=) c.2182A= (p.Arg728=) c.859A= (p.Arg287=) | |
3 | g.38894915dup | CA645525913 | SCN11A | c.2455dup (p.Arg819LysfsTer13) c.2275dup (p.Arg759LysfsTer13) c.2499dup (n.2499dup) c.2074dup (p.Arg692LysfsTer13) c.1792dup (p.Arg598LysfsTer13) c.1003dup (p.Arg335LysfsTer13) c.2830dup (p.Arg944LysfsTer13) c.2257dup (p.Arg753LysfsTer13) c.2182dup (p.Arg728LysfsTer13) c.859dup (p.Arg287LysfsTer13) | COSMIC |
3 | g.38894915del | CA2665127325 | SCN11A | c.2455del (p.Arg819GlufsTer5) c.2275del (p.Arg759GlufsTer5) c.2499del (n.2499del) c.2074del (p.Arg692GlufsTer5) c.1792del (p.Arg598GlufsTer5) c.1003del (p.Arg335GlufsTer5) c.2830del (p.Arg944GlufsTer5) c.2257del (p.Arg753GlufsTer5) c.2182del (p.Arg728GlufsTer5) c.859del (p.Arg287GlufsTer5) | gnomAD v4 |
3 | g.38894914T>A | CA352175109 | SCN11A | c.2454A>T (p.Glu818Asp) c.2274A>T (p.Glu758Asp) c.2498A>T (n.2498A>T) c.2073A>T (p.Glu691Asp) c.1791A>T (p.Glu597Asp) c.1002A>T (p.Glu334Asp) c.2829A>T (p.Glu943Asp) c.2256A>T (p.Glu752Asp) c.2181A>T (p.Glu727Asp) c.858A>T (p.Glu286Asp) | |
3 | g.38894914T>C | CA433336225 | SCN11A | c.2454A>G (p.Glu818=) c.2274A>G (p.Glu758=) c.2498A>G (n.2498A>G) c.2073A>G (p.Glu691=) c.1791A>G (p.Glu597=) c.1002A>G (p.Glu334=) c.2829A>G (p.Glu943=) c.2256A>G (p.Glu752=) c.2181A>G (p.Glu727=) c.858A>G (p.Glu286=) | gnomAD v4 |
3 | g.38894914T>G | CA352175110 | SCN11A | c.2454A>C (p.Glu818Asp) c.2274A>C (p.Glu758Asp) c.2498A>C (n.2498A>C) c.2073A>C (p.Glu691Asp) c.1791A>C (p.Glu597Asp) c.1002A>C (p.Glu334Asp) c.2829A>C (p.Glu943Asp) c.2256A>C (p.Glu752Asp) c.2181A>C (p.Glu727Asp) c.858A>C (p.Glu286Asp) | |
3 | g.38894915T>A | CA352175111 | SCN11A | c.2453A>T (p.Glu818Val) c.2273A>T (p.Glu758Val) c.2497A>T (n.2497A>T) c.2072A>T (p.Glu691Val) c.1790A>T (p.Glu597Val) c.1001A>T (p.Glu334Val) c.2828A>T (p.Glu943Val) c.2255A>T (p.Glu752Val) c.2180A>T (p.Glu727Val) c.857A>T (p.Glu286Val) | |
3 | g.38894915T>C | CA352175112 | SCN11A | c.2453A>G (p.Glu818Gly) c.2273A>G (p.Glu758Gly) c.2497A>G (n.2497A>G) c.2072A>G (p.Glu691Gly) c.1790A>G (p.Glu597Gly) c.1001A>G (p.Glu334Gly) c.2828A>G (p.Glu943Gly) c.2255A>G (p.Glu752Gly) c.2180A>G (p.Glu727Gly) c.857A>G (p.Glu286Gly) | |
3 | g.38894915T>G | CA352175113 | SCN11A | c.2453A>C (p.Glu818Ala) c.2273A>C (p.Glu758Ala) c.2497A>C (n.2497A>C) c.2072A>C (p.Glu691Ala) c.1790A>C (p.Glu597Ala) c.1001A>C (p.Glu334Ala) c.2828A>C (p.Glu943Ala) c.2255A>C (p.Glu752Ala) c.2180A>C (p.Glu727Ala) c.857A>C (p.Glu286Ala) | |
3 | g.38894916C>A | CA352175114 | SCN11A | c.2452G>T (p.Glu818Ter) c.2272G>T (p.Glu758Ter) c.2496G>T (n.2496G>T) c.2071G>T (p.Glu691Ter) c.1789G>T (p.Glu597Ter) c.1000G>T (p.Glu334Ter) c.2827G>T (p.Glu943Ter) c.2254G>T (p.Glu752Ter) c.2179G>T (p.Glu727Ter) c.856G>T (p.Glu286Ter) | ClinVar dbSNP gnomAD v4 |
3 | g.38894916C= | CA1358718293 | SCN11A | c.2452G= (p.Glu818=) c.2272G= (p.Glu758=) c.2496G= (n.2496G=) c.2071G= (p.Glu691=) c.1789G= (p.Glu597=) c.1000G= (p.Glu334=) c.2827G= (p.Glu943=) c.2254G= (p.Glu752=) c.2179G= (p.Glu727=) c.856G= (p.Glu286=) | |
3 | g.38894916C>G | CA352175115 | SCN11A | c.2452G>C (p.Glu818Gln) c.2272G>C (p.Glu758Gln) c.2496G>C (n.2496G>C) c.2071G>C (p.Glu691Gln) c.1789G>C (p.Glu597Gln) c.1000G>C (p.Glu334Gln) c.2827G>C (p.Glu943Gln) c.2254G>C (p.Glu752Gln) c.2179G>C (p.Glu727Gln) c.856G>C (p.Glu286Gln) | |
3 | g.38894916C>T | CA352175116 | SCN11A | c.2452G>A (p.Glu818Lys) c.2272G>A (p.Glu758Lys) c.2496G>A (n.2496G>A) c.2071G>A (p.Glu691Lys) c.1789G>A (p.Glu597Lys) c.1000G>A (p.Glu334Lys) c.2827G>A (p.Glu943Lys) c.2254G>A (p.Glu752Lys) c.2179G>A (p.Glu727Lys) c.856G>A (p.Glu286Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.38894917C>A | CA352175118 | SCN11A | c.2451G>T (p.Glu817Asp) c.2271G>T (p.Glu757Asp) c.2495G>T (n.2495G>T) c.2070G>T (p.Glu690Asp) c.1788G>T (p.Glu596Asp) c.999G>T (p.Glu333Asp) c.2826G>T (p.Glu942Asp) c.2253G>T (p.Glu751Asp) c.2178G>T (p.Glu726Asp) c.855G>T (p.Glu285Asp) | gnomAD v4 |
3 | g.38894917C>G | CA352175117 | SCN11A | c.2451G>C (p.Glu817Asp) c.2271G>C (p.Glu757Asp) c.2495G>C (n.2495G>C) c.2070G>C (p.Glu690Asp) c.1788G>C (p.Glu596Asp) c.999G>C (p.Glu333Asp) c.2826G>C (p.Glu942Asp) c.2253G>C (p.Glu751Asp) c.2178G>C (p.Glu726Asp) c.855G>C (p.Glu285Asp) | |
3 | g.38894917C>T | CA433336226 | SCN11A | c.2451G>A (p.Glu817=) c.2271G>A (p.Glu757=) c.2495G>A (n.2495G>A) c.2070G>A (p.Glu690=) c.1788G>A (p.Glu596=) c.999G>A (p.Glu333=) c.2826G>A (p.Glu942=) c.2253G>A (p.Glu751=) c.2178G>A (p.Glu726=) c.855G>A (p.Glu285=) | |
3 | g.38894918T>A | CA352175119 | SCN11A | c.2450A>T (p.Glu817Val) c.2270A>T (p.Glu757Val) c.2494A>T (n.2494A>T) c.2069A>T (p.Glu690Val) c.1787A>T (p.Glu596Val) c.998A>T (p.Glu333Val) c.2825A>T (p.Glu942Val) c.2252A>T (p.Glu751Val) c.2177A>T (p.Glu726Val) c.854A>T (p.Glu285Val) | |
3 | g.38894918T>C | CA352175120 | SCN11A | c.2450A>G (p.Glu817Gly) c.2270A>G (p.Glu757Gly) c.2494A>G (n.2494A>G) c.2069A>G (p.Glu690Gly) c.1787A>G (p.Glu596Gly) c.998A>G (p.Glu333Gly) c.2825A>G (p.Glu942Gly) c.2252A>G (p.Glu751Gly) c.2177A>G (p.Glu726Gly) c.854A>G (p.Glu285Gly) | |
3 | g.38894918T>G | CA352175121 | SCN11A | c.2450A>C (p.Glu817Ala) c.2270A>C (p.Glu757Ala) c.2494A>C (n.2494A>C) c.2069A>C (p.Glu690Ala) c.1787A>C (p.Glu596Ala) c.998A>C (p.Glu333Ala) c.2825A>C (p.Glu942Ala) c.2252A>C (p.Glu751Ala) c.2177A>C (p.Glu726Ala) c.854A>C (p.Glu285Ala) | |
3 | g.38894919C>A | CA352175122 | SCN11A | c.2449G>T (p.Glu817Ter) c.2269G>T (p.Glu757Ter) c.2493G>T (n.2493G>T) c.2068G>T (p.Glu690Ter) c.1786G>T (p.Glu596Ter) c.997G>T (p.Glu333Ter) c.2824G>T (p.Glu942Ter) c.2251G>T (p.Glu751Ter) c.2176G>T (p.Glu726Ter) c.853G>T (p.Glu285Ter) | dbSNP |
3 | g.38894919C= | CA1358718294 | SCN11A | c.2449G= (p.Glu817=) c.2269G= (p.Glu757=) c.2493G= (n.2493G=) c.2068G= (p.Glu690=) c.1786G= (p.Glu596=) c.997G= (p.Glu333=) c.2824G= (p.Glu942=) c.2251G= (p.Glu751=) c.2176G= (p.Glu726=) c.853G= (p.Glu285=) | |
3 | g.38894919C>G | CA352175123 | SCN11A | c.2449G>C (p.Glu817Gln) c.2269G>C (p.Glu757Gln) c.2493G>C (n.2493G>C) c.2068G>C (p.Glu690Gln) c.1786G>C (p.Glu596Gln) c.997G>C (p.Glu333Gln) c.2824G>C (p.Glu942Gln) c.2251G>C (p.Glu751Gln) c.2176G>C (p.Glu726Gln) c.853G>C (p.Glu285Gln) | |
3 | g.38894919C>T | CA352175124 | SCN11A | c.2449G>A (p.Glu817Lys) c.2269G>A (p.Glu757Lys) c.2493G>A (n.2493G>A) c.2068G>A (p.Glu690Lys) c.1786G>A (p.Glu596Lys) c.997G>A (p.Glu333Lys) c.2824G>A (p.Glu942Lys) c.2251G>A (p.Glu751Lys) c.2176G>A (p.Glu726Lys) c.853G>A (p.Glu285Lys) | gnomAD v4 |
3 | g.38894920A= | CA1358718295 | SCN11A | c.2448T= (p.Asn816=) c.2268T= (p.Asn756=) c.2492T= (n.2492T=) c.2067T= (p.Asn689=) c.1785T= (p.Asn595=) c.996T= (p.Asn332=) c.2823T= (p.Asn941=) c.2250T= (p.Asn750=) c.2175T= (p.Asn725=) c.852T= (p.Asn284=) | |
3 | g.38894920A>C | CA352175125 | SCN11A | c.2448T>G (p.Asn816Lys) c.2268T>G (p.Asn756Lys) c.2492T>G (n.2492T>G) c.2067T>G (p.Asn689Lys) c.1785T>G (p.Asn595Lys) c.996T>G (p.Asn332Lys) c.2823T>G (p.Asn941Lys) c.2250T>G (p.Asn750Lys) c.2175T>G (p.Asn725Lys) c.852T>G (p.Asn284Lys) | |
3 | g.38894920A>G | CA433336227 | SCN11A | c.2448T>C (p.Asn816=) c.2268T>C (p.Asn756=) c.2492T>C (n.2492T>C) c.2067T>C (p.Asn689=) c.1785T>C (p.Asn595=) c.996T>C (p.Asn332=) c.2823T>C (p.Asn941=) c.2250T>C (p.Asn750=) c.2175T>C (p.Asn725=) c.852T>C (p.Asn284=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38894920A>T | CA2322034 | SCN11A | c.2448T>A (p.Asn816Lys) c.2268T>A (p.Asn756Lys) c.2492T>A (n.2492T>A) c.2067T>A (p.Asn689Lys) c.1785T>A (p.Asn595Lys) c.996T>A (p.Asn332Lys) c.2823T>A (p.Asn941Lys) c.2250T>A (p.Asn750Lys) c.2175T>A (p.Asn725Lys) c.852T>A (p.Asn284Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38894921T>A | CA352175126 | SCN11A | c.2447A>T (p.Asn816Ile) c.2267A>T (p.Asn756Ile) c.2491A>T (n.2491A>T) c.2066A>T (p.Asn689Ile) c.1784A>T (p.Asn595Ile) c.995A>T (p.Asn332Ile) c.2822A>T (p.Asn941Ile) c.2249A>T (p.Asn750Ile) c.2174A>T (p.Asn725Ile) c.851A>T (p.Asn284Ile) | |
3 | g.38894921T>C | CA352175127 | SCN11A | c.2447A>G (p.Asn816Ser) c.2267A>G (p.Asn756Ser) c.2491A>G (n.2491A>G) c.2066A>G (p.Asn689Ser) c.1784A>G (p.Asn595Ser) c.995A>G (p.Asn332Ser) c.2822A>G (p.Asn941Ser) c.2249A>G (p.Asn750Ser) c.2174A>G (p.Asn725Ser) c.851A>G (p.Asn284Ser) | |
3 | g.38894921T>G | CA352175128 | SCN11A | c.2447A>C (p.Asn816Thr) c.2267A>C (p.Asn756Thr) c.2491A>C (n.2491A>C) c.2066A>C (p.Asn689Thr) c.1784A>C (p.Asn595Thr) c.995A>C (p.Asn332Thr) c.2822A>C (p.Asn941Thr) c.2249A>C (p.Asn750Thr) c.2174A>C (p.Asn725Thr) c.851A>C (p.Asn284Thr) | |
3 | g.38894922T>A | CA352175129 | SCN11A | c.2446A>T (p.Asn816Tyr) c.2266A>T (p.Asn756Tyr) c.2490A>T (n.2490A>T) c.2065A>T (p.Asn689Tyr) c.1783A>T (p.Asn595Tyr) c.994A>T (p.Asn332Tyr) c.2821A>T (p.Asn941Tyr) c.2248A>T (p.Asn750Tyr) c.2173A>T (p.Asn725Tyr) c.850A>T (p.Asn284Tyr) | |
3 | g.38894922T>C | CA352175130 | SCN11A | c.2446A>G (p.Asn816Asp) c.2266A>G (p.Asn756Asp) c.2490A>G (n.2490A>G) c.2065A>G (p.Asn689Asp) c.1783A>G (p.Asn595Asp) c.994A>G (p.Asn332Asp) c.2821A>G (p.Asn941Asp) c.2248A>G (p.Asn750Asp) c.2173A>G (p.Asn725Asp) c.850A>G (p.Asn284Asp) | |
3 | g.38894922T>G | CA352175131 | SCN11A | c.2446A>C (p.Asn816His) c.2266A>C (p.Asn756His) c.2490A>C (n.2490A>C) c.2065A>C (p.Asn689His) c.1783A>C (p.Asn595His) c.994A>C (p.Asn332His) c.2821A>C (p.Asn941His) c.2248A>C (p.Asn750His) c.2173A>C (p.Asn725His) c.850A>C (p.Asn284His) | |
3 | g.38894923G>A | CA433336228 | SCN11A | c.2445C>T (p.Ser815=) c.2265C>T (p.Ser755=) c.2489C>T (n.2489C>T) c.2064C>T (p.Ser688=) c.1782C>T (p.Ser594=) c.993C>T (p.Ser331=) c.2820C>T (p.Ser940=) c.2247C>T (p.Ser749=) c.2172C>T (p.Ser724=) c.849C>T (p.Ser283=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38894923G>C | CA352175132 | SCN11A | c.2445C>G (p.Ser815Arg) c.2265C>G (p.Ser755Arg) c.2489C>G (n.2489C>G) c.2064C>G (p.Ser688Arg) c.1782C>G (p.Ser594Arg) c.993C>G (p.Ser331Arg) c.2820C>G (p.Ser940Arg) c.2247C>G (p.Ser749Arg) c.2172C>G (p.Ser724Arg) c.849C>G (p.Ser283Arg) | |
3 | g.38894923G= | CA1358718296 | SCN11A | c.2445C= (p.Ser815=) c.2265C= (p.Ser755=) c.2489C= (n.2489C=) c.2064C= (p.Ser688=) c.1782C= (p.Ser594=) c.993C= (p.Ser331=) c.2820C= (p.Ser940=) c.2247C= (p.Ser749=) c.2172C= (p.Ser724=) c.849C= (p.Ser283=) | |
3 | g.38894923G>T | CA352175133 | SCN11A | c.2445C>A (p.Ser815Arg) c.2265C>A (p.Ser755Arg) c.2489C>A (n.2489C>A) c.2064C>A (p.Ser688Arg) c.1782C>A (p.Ser594Arg) c.993C>A (p.Ser331Arg) c.2820C>A (p.Ser940Arg) c.2247C>A (p.Ser749Arg) c.2172C>A (p.Ser724Arg) c.849C>A (p.Ser283Arg) | |
3 | g.38894924C>A | CA352175134 | SCN11A | c.2444G>T (p.Ser815Ile) c.2264G>T (p.Ser755Ile) c.2488G>T (n.2488G>T) c.2063G>T (p.Ser688Ile) c.1781G>T (p.Ser594Ile) c.992G>T (p.Ser331Ile) c.2819G>T (p.Ser940Ile) c.2246G>T (p.Ser749Ile) c.2171G>T (p.Ser724Ile) c.848G>T (p.Ser283Ile) | |
3 | g.38894924C= | CA1358718297 | SCN11A | c.2444G= (p.Ser815=) c.2264G= (p.Ser755=) c.2488G= (n.2488G=) c.2063G= (p.Ser688=) c.1781G= (p.Ser594=) c.992G= (p.Ser331=) c.2819G= (p.Ser940=) c.2246G= (p.Ser749=) c.2171G= (p.Ser724=) c.848G= (p.Ser283=) | |
3 | g.38894924C>G | CA352175136 | SCN11A | c.2444G>C (p.Ser815Thr) c.2264G>C (p.Ser755Thr) c.2488G>C (n.2488G>C) c.2063G>C (p.Ser688Thr) c.1781G>C (p.Ser594Thr) c.992G>C (p.Ser331Thr) c.2819G>C (p.Ser940Thr) c.2246G>C (p.Ser749Thr) c.2171G>C (p.Ser724Thr) c.848G>C (p.Ser283Thr) | |
3 | g.38894924C>T | CA352175135 | SCN11A | c.2444G>A (p.Ser815Asn) c.2264G>A (p.Ser755Asn) c.2488G>A (n.2488G>A) c.2063G>A (p.Ser688Asn) c.1781G>A (p.Ser594Asn) c.992G>A (p.Ser331Asn) c.2819G>A (p.Ser940Asn) c.2246G>A (p.Ser749Asn) c.2171G>A (p.Ser724Asn) c.848G>A (p.Ser283Asn) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38894925T>A | CA352175137 | SCN11A | c.2443A>T (p.Ser815Cys) c.2263A>T (p.Ser755Cys) c.2487A>T (n.2487A>T) c.2062A>T (p.Ser688Cys) c.1780A>T (p.Ser594Cys) c.991A>T (p.Ser331Cys) c.2818A>T (p.Ser940Cys) c.2245A>T (p.Ser749Cys) c.2170A>T (p.Ser724Cys) c.847A>T (p.Ser283Cys) | |
3 | g.38894925T>C | CA352175138 | SCN11A | c.2443A>G (p.Ser815Gly) c.2263A>G (p.Ser755Gly) c.2487A>G (n.2487A>G) c.2062A>G (p.Ser688Gly) c.1780A>G (p.Ser594Gly) c.991A>G (p.Ser331Gly) c.2818A>G (p.Ser940Gly) c.2245A>G (p.Ser749Gly) c.2170A>G (p.Ser724Gly) c.847A>G (p.Ser283Gly) | |
3 | g.38894925T>G | CA2322035 | SCN11A | c.2443A>C (p.Ser815Arg) c.2263A>C (p.Ser755Arg) c.2487A>C (n.2487A>C) c.2062A>C (p.Ser688Arg) c.1780A>C (p.Ser594Arg) c.991A>C (p.Ser331Arg) c.2818A>C (p.Ser940Arg) c.2245A>C (p.Ser749Arg) c.2170A>C (p.Ser724Arg) c.847A>C (p.Ser283Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894925T= | CA1358718298 | SCN11A | c.2443A= (p.Ser815=) c.2263A= (p.Ser755=) c.2487A= (n.2487A=) c.2062A= (p.Ser688=) c.1780A= (p.Ser594=) c.991A= (p.Ser331=) c.2818A= (p.Ser940=) c.2245A= (p.Ser749=) c.2170A= (p.Ser724=) c.847A= (p.Ser283=) | |
3 | g.38894926A>C | CA352175139 | SCN11A | c.2442T>G (p.Phe814Leu) c.2262T>G (p.Phe754Leu) c.2486T>G (n.2486T>G) c.2061T>G (p.Phe687Leu) c.1779T>G (p.Phe593Leu) c.990T>G (p.Phe330Leu) c.2817T>G (p.Phe939Leu) c.2244T>G (p.Phe748Leu) c.2169T>G (p.Phe723Leu) c.846T>G (p.Phe282Leu) | |
3 | g.38894926A>G | CA433336229 | SCN11A | c.2442T>C (p.Phe814=) c.2262T>C (p.Phe754=) c.2486T>C (n.2486T>C) c.2061T>C (p.Phe687=) c.1779T>C (p.Phe593=) c.990T>C (p.Phe330=) c.2817T>C (p.Phe939=) c.2244T>C (p.Phe748=) c.2169T>C (p.Phe723=) c.846T>C (p.Phe282=) | |
3 | g.38894926A>T | CA352175140 | SCN11A | c.2442T>A (p.Phe814Leu) c.2262T>A (p.Phe754Leu) c.2486T>A (n.2486T>A) c.2061T>A (p.Phe687Leu) c.1779T>A (p.Phe593Leu) c.990T>A (p.Phe330Leu) c.2817T>A (p.Phe939Leu) c.2244T>A (p.Phe748Leu) c.2169T>A (p.Phe723Leu) c.846T>A (p.Phe282Leu) | |
3 | g.38894927A>C | CA352175141 | SCN11A | c.2441T>G (p.Phe814Cys) c.2261T>G (p.Phe754Cys) c.2485T>G (n.2485T>G) c.2060T>G (p.Phe687Cys) c.1778T>G (p.Phe593Cys) c.989T>G (p.Phe330Cys) c.2816T>G (p.Phe939Cys) c.2243T>G (p.Phe748Cys) c.2168T>G (p.Phe723Cys) c.845T>G (p.Phe282Cys) | |
3 | g.38894927A>G | CA352175142 | SCN11A | c.2441T>C (p.Phe814Ser) c.2261T>C (p.Phe754Ser) c.2485T>C (n.2485T>C) c.2060T>C (p.Phe687Ser) c.1778T>C (p.Phe593Ser) c.989T>C (p.Phe330Ser) c.2816T>C (p.Phe939Ser) c.2243T>C (p.Phe748Ser) c.2168T>C (p.Phe723Ser) c.845T>C (p.Phe282Ser) | |
3 | g.38894927A>T | CA352175143 | SCN11A | c.2441T>A (p.Phe814Tyr) c.2261T>A (p.Phe754Tyr) c.2485T>A (n.2485T>A) c.2060T>A (p.Phe687Tyr) c.1778T>A (p.Phe593Tyr) c.989T>A (p.Phe330Tyr) c.2816T>A (p.Phe939Tyr) c.2243T>A (p.Phe748Tyr) c.2168T>A (p.Phe723Tyr) c.845T>A (p.Phe282Tyr) | |
3 | g.38894928A>C | CA352175144 | SCN11A | c.2440T>G (p.Phe814Val) c.2260T>G (p.Phe754Val) c.2484T>G (n.2484T>G) c.2059T>G (p.Phe687Val) c.1777T>G (p.Phe593Val) c.988T>G (p.Phe330Val) c.2815T>G (p.Phe939Val) c.2242T>G (p.Phe748Val) c.2167T>G (p.Phe723Val) c.844T>G (p.Phe282Val) | |
3 | g.38894928A>G | CA352175145 | SCN11A | c.2440T>C (p.Phe814Leu) c.2260T>C (p.Phe754Leu) c.2484T>C (n.2484T>C) c.2059T>C (p.Phe687Leu) c.1777T>C (p.Phe593Leu) c.988T>C (p.Phe330Leu) c.2815T>C (p.Phe939Leu) c.2242T>C (p.Phe748Leu) c.2167T>C (p.Phe723Leu) c.844T>C (p.Phe282Leu) | |
3 | g.38894928A>T | CA352175146 | SCN11A | c.2440T>A (p.Phe814Ile) c.2260T>A (p.Phe754Ile) c.2484T>A (n.2484T>A) c.2059T>A (p.Phe687Ile) c.1777T>A (p.Phe593Ile) c.988T>A (p.Phe330Ile) c.2815T>A (p.Phe939Ile) c.2242T>A (p.Phe748Ile) c.2167T>A (p.Phe723Ile) c.844T>A (p.Phe282Ile) | |
3 | g.38894929G>A | CA433336230 | SCN11A | c.2439C>T (p.Ser813=) c.2259C>T (p.Ser753=) c.2483C>T (n.2483C>T) c.2058C>T (p.Ser686=) c.1776C>T (p.Ser592=) c.987C>T (p.Ser329=) c.2814C>T (p.Ser938=) c.2241C>T (p.Ser747=) c.2166C>T (p.Ser722=) c.843C>T (p.Ser281=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38894929G>C | CA433336232 | SCN11A | c.2439C>G (p.Ser813=) c.2259C>G (p.Ser753=) c.2483C>G (n.2483C>G) c.2058C>G (p.Ser686=) c.1776C>G (p.Ser592=) c.987C>G (p.Ser329=) c.2814C>G (p.Ser938=) c.2241C>G (p.Ser747=) c.2166C>G (p.Ser722=) c.843C>G (p.Ser281=) | gnomAD v4 |
3 | g.38894929G= | CA1358718299 | SCN11A | c.2439C= (p.Ser813=) c.2259C= (p.Ser753=) c.2483C= (n.2483C=) c.2058C= (p.Ser686=) c.1776C= (p.Ser592=) c.987C= (p.Ser329=) c.2814C= (p.Ser938=) c.2241C= (p.Ser747=) c.2166C= (p.Ser722=) c.843C= (p.Ser281=) | |
3 | g.38894929G>T | CA433336231 | SCN11A | c.2439C>A (p.Ser813=) c.2259C>A (p.Ser753=) c.2483C>A (n.2483C>A) c.2058C>A (p.Ser686=) c.1776C>A (p.Ser592=) c.987C>A (p.Ser329=) c.2814C>A (p.Ser938=) c.2241C>A (p.Ser747=) c.2166C>A (p.Ser722=) c.843C>A (p.Ser281=) | |
3 | g.38894930G>A | CA352175147 | SCN11A | c.2438C>T (p.Ser813Phe) c.2258C>T (p.Ser753Phe) c.2482C>T (n.2482C>T) c.2057C>T (p.Ser686Phe) c.1775C>T (p.Ser592Phe) c.986C>T (p.Ser329Phe) c.2813C>T (p.Ser938Phe) c.2240C>T (p.Ser747Phe) c.2165C>T (p.Ser722Phe) c.842C>T (p.Ser281Phe) | dbSNP COSMIC |
3 | g.38894930G>C | CA352175148 | SCN11A | c.2438C>G (p.Ser813Cys) c.2258C>G (p.Ser753Cys) c.2482C>G (n.2482C>G) c.2057C>G (p.Ser686Cys) c.1775C>G (p.Ser592Cys) c.986C>G (p.Ser329Cys) c.2813C>G (p.Ser938Cys) c.2240C>G (p.Ser747Cys) c.2165C>G (p.Ser722Cys) c.842C>G (p.Ser281Cys) | |
3 | g.38894930G>T | CA352175149 | SCN11A | c.2438C>A (p.Ser813Tyr) c.2258C>A (p.Ser753Tyr) c.2482C>A (n.2482C>A) c.2057C>A (p.Ser686Tyr) c.1775C>A (p.Ser592Tyr) c.986C>A (p.Ser329Tyr) c.2813C>A (p.Ser938Tyr) c.2240C>A (p.Ser747Tyr) c.2165C>A (p.Ser722Tyr) c.842C>A (p.Ser281Tyr) | |
3 | g.38894931A>C | CA352175150 | SCN11A | c.2437T>G (p.Ser813Ala) c.2257T>G (p.Ser753Ala) c.2481T>G (n.2481T>G) c.2056T>G (p.Ser686Ala) c.1774T>G (p.Ser592Ala) c.985T>G (p.Ser329Ala) c.2812T>G (p.Ser938Ala) c.2239T>G (p.Ser747Ala) c.2164T>G (p.Ser722Ala) c.841T>G (p.Ser281Ala) | |
3 | g.38894931A>G | CA352175151 | SCN11A | c.2437T>C (p.Ser813Pro) c.2257T>C (p.Ser753Pro) c.2481T>C (n.2481T>C) c.2056T>C (p.Ser686Pro) c.1774T>C (p.Ser592Pro) c.985T>C (p.Ser329Pro) c.2812T>C (p.Ser938Pro) c.2239T>C (p.Ser747Pro) c.2164T>C (p.Ser722Pro) c.841T>C (p.Ser281Pro) | |
3 | g.38894931A>T | CA352175152 | SCN11A | c.2437T>A (p.Ser813Thr) c.2257T>A (p.Ser753Thr) c.2481T>A (n.2481T>A) c.2056T>A (p.Ser686Thr) c.1774T>A (p.Ser592Thr) c.985T>A (p.Ser329Thr) c.2812T>A (p.Ser938Thr) c.2239T>A (p.Ser747Thr) c.2164T>A (p.Ser722Thr) c.841T>A (p.Ser281Thr) | |
3 | g.38894932A>C | CA352175154 | SCN11A | c.2436T>G (p.Asn812Lys) c.2256T>G (p.Asn752Lys) c.2480T>G (n.2480T>G) c.2055T>G (p.Asn685Lys) c.1773T>G (p.Asn591Lys) c.984T>G (p.Asn328Lys) c.2811T>G (p.Asn937Lys) c.2238T>G (p.Asn746Lys) c.2163T>G (p.Asn721Lys) c.840T>G (p.Asn280Lys) | |
3 | g.38894932A>G | CA433336233 | SCN11A | c.2436T>C (p.Asn812=) c.2256T>C (p.Asn752=) c.2480T>C (n.2480T>C) c.2055T>C (p.Asn685=) c.1773T>C (p.Asn591=) c.984T>C (p.Asn328=) c.2811T>C (p.Asn937=) c.2238T>C (p.Asn746=) c.2163T>C (p.Asn721=) c.840T>C (p.Asn280=) | |
3 | g.38894932A>T | CA352175153 | SCN11A | c.2436T>A (p.Asn812Lys) c.2256T>A (p.Asn752Lys) c.2480T>A (n.2480T>A) c.2055T>A (p.Asn685Lys) c.1773T>A (p.Asn591Lys) c.984T>A (p.Asn328Lys) c.2811T>A (p.Asn937Lys) c.2238T>A (p.Asn746Lys) c.2163T>A (p.Asn721Lys) c.840T>A (p.Asn280Lys) | |
3 | g.38894933T>A | CA352175155 | SCN11A | c.2435A>T (p.Asn812Ile) c.2255A>T (p.Asn752Ile) c.2479A>T (n.2479A>T) c.2054A>T (p.Asn685Ile) c.1772A>T (p.Asn591Ile) c.983A>T (p.Asn328Ile) c.2810A>T (p.Asn937Ile) c.2237A>T (p.Asn746Ile) c.2162A>T (p.Asn721Ile) c.839A>T (p.Asn280Ile) | |
3 | g.38894933T>C | CA352175156 | SCN11A | c.2435A>G (p.Asn812Ser) c.2255A>G (p.Asn752Ser) c.2479A>G (n.2479A>G) c.2054A>G (p.Asn685Ser) c.1772A>G (p.Asn591Ser) c.983A>G (p.Asn328Ser) c.2810A>G (p.Asn937Ser) c.2237A>G (p.Asn746Ser) c.2162A>G (p.Asn721Ser) c.839A>G (p.Asn280Ser) | ClinVar dbSNP |
3 | g.38894933T>G | CA352175157 | SCN11A | c.2435A>C (p.Asn812Thr) c.2255A>C (p.Asn752Thr) c.2479A>C (n.2479A>C) c.2054A>C (p.Asn685Thr) c.1772A>C (p.Asn591Thr) c.983A>C (p.Asn328Thr) c.2810A>C (p.Asn937Thr) c.2237A>C (p.Asn746Thr) c.2162A>C (p.Asn721Thr) c.839A>C (p.Asn280Thr) | |
3 | g.38894934T>A | CA352175158 | SCN11A | c.2434A>T (p.Asn812Tyr) c.2254A>T (p.Asn752Tyr) c.2478A>T (n.2478A>T) c.2053A>T (p.Asn685Tyr) c.1771A>T (p.Asn591Tyr) c.982A>T (p.Asn328Tyr) c.2809A>T (p.Asn937Tyr) c.2236A>T (p.Asn746Tyr) c.2161A>T (p.Asn721Tyr) c.838A>T (p.Asn280Tyr) | ClinVar |
3 | g.38894934T>C | CA352175159 | SCN11A | c.2434A>G (p.Asn812Asp) c.2254A>G (p.Asn752Asp) c.2478A>G (n.2478A>G) c.2053A>G (p.Asn685Asp) c.1771A>G (p.Asn591Asp) c.982A>G (p.Asn328Asp) c.2809A>G (p.Asn937Asp) c.2236A>G (p.Asn746Asp) c.2161A>G (p.Asn721Asp) c.838A>G (p.Asn280Asp) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38894934T>G | CA352175160 | SCN11A | c.2434A>C (p.Asn812His) c.2254A>C (p.Asn752His) c.2478A>C (n.2478A>C) c.2053A>C (p.Asn685His) c.1771A>C (p.Asn591His) c.982A>C (p.Asn328His) c.2809A>C (p.Asn937His) c.2236A>C (p.Asn746His) c.2161A>C (p.Asn721His) c.838A>C (p.Asn280His) | gnomAD v4 |
3 | g.38894934T= | CA1358718300 | SCN11A | c.2434A= (p.Asn812=) c.2254A= (p.Asn752=) c.2478A= (n.2478A=) c.2053A= (p.Asn685=) c.1771A= (p.Asn591=) c.982A= (p.Asn328=) c.2809A= (p.Asn937=) c.2236A= (p.Asn746=) c.2161A= (p.Asn721=) c.838A= (p.Asn280=) | |
3 | g.38894935G>A | CA433336234 | SCN11A | c.2433C>T (p.Leu811=) c.2253C>T (p.Leu751=) c.2477C>T (n.2477C>T) c.2052C>T (p.Leu684=) c.1770C>T (p.Leu590=) c.981C>T (p.Leu327=) c.2808C>T (p.Leu936=) c.2235C>T (p.Leu745=) c.2160C>T (p.Leu720=) c.837C>T (p.Leu279=) | gnomAD v4 |
3 | g.38894935G>C | CA2322036 | SCN11A | c.2433C>G (p.Leu811=) c.2253C>G (p.Leu751=) c.2477C>G (n.2477C>G) c.2052C>G (p.Leu684=) c.1770C>G (p.Leu590=) c.981C>G (p.Leu327=) c.2808C>G (p.Leu936=) c.2235C>G (p.Leu745=) c.2160C>G (p.Leu720=) c.837C>G (p.Leu279=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894935G= | CA1358718301 | SCN11A | c.2433C= (p.Leu811=) c.2253C= (p.Leu751=) c.2477C= (n.2477C=) c.2052C= (p.Leu684=) c.1770C= (p.Leu590=) c.981C= (p.Leu327=) c.2808C= (p.Leu936=) c.2235C= (p.Leu745=) c.2160C= (p.Leu720=) c.837C= (p.Leu279=) | |
3 | g.38894935G>T | CA433336235 | SCN11A | c.2433C>A (p.Leu811=) c.2253C>A (p.Leu751=) c.2477C>A (n.2477C>A) c.2052C>A (p.Leu684=) c.1770C>A (p.Leu590=) c.981C>A (p.Leu327=) c.2808C>A (p.Leu936=) c.2235C>A (p.Leu745=) c.2160C>A (p.Leu720=) c.837C>A (p.Leu279=) | gnomAD v4 |
3 | g.38894936A= | CA1358718302 | SCN11A | c.2432T= (p.Leu811=) c.2252T= (p.Leu751=) c.2476T= (n.2476T=) c.2051T= (p.Leu684=) c.1769T= (p.Leu590=) c.980T= (p.Leu327=) c.2807T= (p.Leu936=) c.2234T= (p.Leu745=) c.2159T= (p.Leu720=) c.836T= (p.Leu279=) | |
3 | g.38894936A>C | CA352175161 | SCN11A | c.2432T>G (p.Leu811Arg) c.2252T>G (p.Leu751Arg) c.2476T>G (n.2476T>G) c.2051T>G (p.Leu684Arg) c.1769T>G (p.Leu590Arg) c.980T>G (p.Leu327Arg) c.2807T>G (p.Leu936Arg) c.2234T>G (p.Leu745Arg) c.2159T>G (p.Leu720Arg) c.836T>G (p.Leu279Arg) | |
3 | g.38894936A>G | CA145432 | SCN11A | c.2432T>C (p.Leu811Pro) c.2252T>C (p.Leu751Pro) c.2476T>C (n.2476T>C) c.2051T>C (p.Leu684Pro) c.1769T>C (p.Leu590Pro) c.980T>C (p.Leu327Pro) c.2807T>C (p.Leu936Pro) c.2234T>C (p.Leu745Pro) c.2159T>C (p.Leu720Pro) c.836T>C (p.Leu279Pro) | ClinVar dbSNP |
3 | g.38894936A>T | CA352175162 | SCN11A | c.2432T>A (p.Leu811His) c.2252T>A (p.Leu751His) c.2476T>A (n.2476T>A) c.2051T>A (p.Leu684His) c.1769T>A (p.Leu590His) c.980T>A (p.Leu327His) c.2807T>A (p.Leu936His) c.2234T>A (p.Leu745His) c.2159T>A (p.Leu720His) c.836T>A (p.Leu279His) | |
3 | g.38894937G>A | CA352175163 | SCN11A | c.2431C>T (p.Leu811Phe) c.2251C>T (p.Leu751Phe) c.2475C>T (n.2475C>T) c.2050C>T (p.Leu684Phe) c.1768C>T (p.Leu590Phe) c.979C>T (p.Leu327Phe) c.2806C>T (p.Leu936Phe) c.2233C>T (p.Leu745Phe) c.2158C>T (p.Leu720Phe) c.835C>T (p.Leu279Phe) | |
3 | g.38894937G>C | CA352175164 | SCN11A | c.2431C>G (p.Leu811Val) c.2251C>G (p.Leu751Val) c.2475C>G (n.2475C>G) c.2050C>G (p.Leu684Val) c.1768C>G (p.Leu590Val) c.979C>G (p.Leu327Val) c.2806C>G (p.Leu936Val) c.2233C>G (p.Leu745Val) c.2158C>G (p.Leu720Val) c.835C>G (p.Leu279Val) | |
3 | g.38894937G>T | CA352175165 | SCN11A | c.2431C>A (p.Leu811Ile) c.2251C>A (p.Leu751Ile) c.2475C>A (n.2475C>A) c.2050C>A (p.Leu684Ile) c.1768C>A (p.Leu590Ile) c.979C>A (p.Leu327Ile) c.2806C>A (p.Leu936Ile) c.2233C>A (p.Leu745Ile) c.2158C>A (p.Leu720Ile) c.835C>A (p.Leu279Ile) | |
3 | g.38894938C>A | CA433336238 | SCN11A | c.2430G>T (p.Leu810=) c.2250G>T (p.Leu750=) c.2474G>T (n.2474G>T) c.2049G>T (p.Leu683=) c.1767G>T (p.Leu589=) c.978G>T (p.Leu326=) c.2805G>T (p.Leu935=) c.2232G>T (p.Leu744=) c.2157G>T (p.Leu719=) c.834G>T (p.Leu278=) | |
3 | g.38894938C>G | CA433336236 | SCN11A | c.2430G>C (p.Leu810=) c.2250G>C (p.Leu750=) c.2474G>C (n.2474G>C) c.2049G>C (p.Leu683=) c.1767G>C (p.Leu589=) c.978G>C (p.Leu326=) c.2805G>C (p.Leu935=) c.2232G>C (p.Leu744=) c.2157G>C (p.Leu719=) c.834G>C (p.Leu278=) | |
3 | g.38894938C>T | CA433336237 | SCN11A | c.2430G>A (p.Leu810=) c.2250G>A (p.Leu750=) c.2474G>A (n.2474G>A) c.2049G>A (p.Leu683=) c.1767G>A (p.Leu589=) c.978G>A (p.Leu326=) c.2805G>A (p.Leu935=) c.2232G>A (p.Leu744=) c.2157G>A (p.Leu719=) c.834G>A (p.Leu278=) | |
3 | g.38894939A>C | CA352175166 | SCN11A | c.2429T>G (p.Leu810Arg) c.2249T>G (p.Leu750Arg) c.2473T>G (n.2473T>G) c.2048T>G (p.Leu683Arg) c.1766T>G (p.Leu589Arg) c.977T>G (p.Leu326Arg) c.2804T>G (p.Leu935Arg) c.2231T>G (p.Leu744Arg) c.2156T>G (p.Leu719Arg) c.833T>G (p.Leu278Arg) | |
3 | g.38894939A>G | CA352175168 | SCN11A | c.2429T>C (p.Leu810Pro) c.2249T>C (p.Leu750Pro) c.2473T>C (n.2473T>C) c.2048T>C (p.Leu683Pro) c.1766T>C (p.Leu589Pro) c.977T>C (p.Leu326Pro) c.2804T>C (p.Leu935Pro) c.2231T>C (p.Leu744Pro) c.2156T>C (p.Leu719Pro) c.833T>C (p.Leu278Pro) | |
3 | g.38894939A>T | CA352175167 | SCN11A | c.2429T>A (p.Leu810Gln) c.2249T>A (p.Leu750Gln) c.2473T>A (n.2473T>A) c.2048T>A (p.Leu683Gln) c.1766T>A (p.Leu589Gln) c.977T>A (p.Leu326Gln) c.2804T>A (p.Leu935Gln) c.2231T>A (p.Leu744Gln) c.2156T>A (p.Leu719Gln) c.833T>A (p.Leu278Gln) | gnomAD v4 |
3 | g.38894940G>A | CA433336239 | SCN11A | c.2428C>T (p.Leu810=) c.2248C>T (p.Leu750=) c.2472C>T (n.2472C>T) c.2047C>T (p.Leu683=) c.1765C>T (p.Leu589=) c.976C>T (p.Leu326=) c.2803C>T (p.Leu935=) c.2230C>T (p.Leu744=) c.2155C>T (p.Leu719=) c.832C>T (p.Leu278=) | |
3 | g.38894940G>C | CA352175169 | SCN11A | c.2428C>G (p.Leu810Val) c.2248C>G (p.Leu750Val) c.2472C>G (n.2472C>G) c.2047C>G (p.Leu683Val) c.1765C>G (p.Leu589Val) c.976C>G (p.Leu326Val) c.2803C>G (p.Leu935Val) c.2230C>G (p.Leu744Val) c.2155C>G (p.Leu719Val) c.832C>G (p.Leu278Val) | |
3 | g.38894940G>T | CA352175170 | SCN11A | c.2428C>A (p.Leu810Met) c.2248C>A (p.Leu750Met) c.2472C>A (n.2472C>A) c.2047C>A (p.Leu683Met) c.1765C>A (p.Leu589Met) c.976C>A (p.Leu326Met) c.2803C>A (p.Leu935Met) c.2230C>A (p.Leu744Met) c.2155C>A (p.Leu719Met) c.832C>A (p.Leu278Met) | |
3 | g.38894941T>A | CA352175171 | SCN11A | c.2427A>T (p.Leu809Phe) c.2247A>T (p.Leu749Phe) c.2471A>T (n.2471A>T) c.2046A>T (p.Leu682Phe) c.1764A>T (p.Leu588Phe) c.975A>T (p.Leu325Phe) c.2802A>T (p.Leu934Phe) c.2229A>T (p.Leu743Phe) c.2154A>T (p.Leu718Phe) c.831A>T (p.Leu277Phe) | |
3 | g.38894941T>C | CA433336240 | SCN11A | c.2427A>G (p.Leu809=) c.2247A>G (p.Leu749=) c.2471A>G (n.2471A>G) c.2046A>G (p.Leu682=) c.1764A>G (p.Leu588=) c.975A>G (p.Leu325=) c.2802A>G (p.Leu934=) c.2229A>G (p.Leu743=) c.2154A>G (p.Leu718=) c.831A>G (p.Leu277=) | |
3 | g.38894941T>G | CA352175172 | SCN11A | c.2427A>C (p.Leu809Phe) c.2247A>C (p.Leu749Phe) c.2471A>C (n.2471A>C) c.2046A>C (p.Leu682Phe) c.1764A>C (p.Leu588Phe) c.975A>C (p.Leu325Phe) c.2802A>C (p.Leu934Phe) c.2229A>C (p.Leu743Phe) c.2154A>C (p.Leu718Phe) c.831A>C (p.Leu277Phe) | |
3 | g.38894942A>C | CA352175173 | SCN11A | c.2426T>G (p.Leu809Ter) c.2246T>G (p.Leu749Ter) c.2470T>G (n.2470T>G) c.2045T>G (p.Leu682Ter) c.1763T>G (p.Leu588Ter) c.974T>G (p.Leu325Ter) c.2801T>G (p.Leu934Ter) c.2228T>G (p.Leu743Ter) c.2153T>G (p.Leu718Ter) c.830T>G (p.Leu277Ter) | |
3 | g.38894942A>G | CA352175174 | SCN11A | c.2426T>C (p.Leu809Ser) c.2246T>C (p.Leu749Ser) c.2470T>C (n.2470T>C) c.2045T>C (p.Leu682Ser) c.1763T>C (p.Leu588Ser) c.974T>C (p.Leu325Ser) c.2801T>C (p.Leu934Ser) c.2228T>C (p.Leu743Ser) c.2153T>C (p.Leu718Ser) c.830T>C (p.Leu277Ser) | |
3 | g.38894942A>T | CA352175175 | SCN11A | c.2426T>A (p.Leu809Ter) c.2246T>A (p.Leu749Ter) c.2470T>A (n.2470T>A) c.2045T>A (p.Leu682Ter) c.1763T>A (p.Leu588Ter) c.974T>A (p.Leu325Ter) c.2801T>A (p.Leu934Ter) c.2228T>A (p.Leu743Ter) c.2153T>A (p.Leu718Ter) c.830T>A (p.Leu277Ter) | |
3 | g.38894943A= | CA1358718303 | SCN11A | c.2425T= (p.Leu809=) c.2245T= (p.Leu749=) c.2469T= (n.2469T=) c.2044T= (p.Leu682=) c.1762T= (p.Leu588=) c.973T= (p.Leu325=) c.2800T= (p.Leu934=) c.2227T= (p.Leu743=) c.2152T= (p.Leu718=) c.829T= (p.Leu277=) | |
3 | g.38894943A>C | CA72997896 | SCN11A | c.2425T>G (p.Leu809Val) c.2245T>G (p.Leu749Val) c.2469T>G (n.2469T>G) c.2044T>G (p.Leu682Val) c.1762T>G (p.Leu588Val) c.973T>G (p.Leu325Val) c.2800T>G (p.Leu934Val) c.2227T>G (p.Leu743Val) c.2152T>G (p.Leu718Val) c.829T>G (p.Leu277Val) | dbSNP |
3 | g.38894943A>G | CA433336241 | SCN11A | c.2425T>C (p.Leu809=) c.2245T>C (p.Leu749=) c.2469T>C (n.2469T>C) c.2044T>C (p.Leu682=) c.1762T>C (p.Leu588=) c.973T>C (p.Leu325=) c.2800T>C (p.Leu934=) c.2227T>C (p.Leu743=) c.2152T>C (p.Leu718=) c.829T>C (p.Leu277=) | |
3 | g.38894943A>T | CA352175176 | SCN11A | c.2425T>A (p.Leu809Ile) c.2245T>A (p.Leu749Ile) c.2469T>A (n.2469T>A) c.2044T>A (p.Leu682Ile) c.1762T>A (p.Leu588Ile) c.973T>A (p.Leu325Ile) c.2800T>A (p.Leu934Ile) c.2227T>A (p.Leu743Ile) c.2152T>A (p.Leu718Ile) c.829T>A (p.Leu277Ile) | |
3 | g.38894944G>A | CA433336244 | SCN11A | c.2424C>T (p.Ala808=) c.2244C>T (p.Ala748=) c.2468C>T (n.2468C>T) c.2043C>T (p.Ala681=) c.1761C>T (p.Ala587=) c.972C>T (p.Ala324=) c.2799C>T (p.Ala933=) c.2226C>T (p.Ala742=) c.2151C>T (p.Ala717=) c.828C>T (p.Ala276=) | |
3 | g.38894944G>C | CA433336242 | SCN11A | c.2424C>G (p.Ala808=) c.2244C>G (p.Ala748=) c.2468C>G (n.2468C>G) c.2043C>G (p.Ala681=) c.1761C>G (p.Ala587=) c.972C>G (p.Ala324=) c.2799C>G (p.Ala933=) c.2226C>G (p.Ala742=) c.2151C>G (p.Ala717=) c.828C>G (p.Ala276=) | |
3 | g.38894944G>T | CA433336243 | SCN11A | c.2424C>A (p.Ala808=) c.2244C>A (p.Ala748=) c.2468C>A (n.2468C>A) c.2043C>A (p.Ala681=) c.1761C>A (p.Ala587=) c.972C>A (p.Ala324=) c.2799C>A (p.Ala933=) c.2226C>A (p.Ala742=) c.2151C>A (p.Ala717=) c.828C>A (p.Ala276=) | |
3 | g.38894945G>A | CA352175177 | SCN11A | c.2423C>T (p.Ala808Val) c.2243C>T (p.Ala748Val) c.2467C>T (n.2467C>T) c.2042C>T (p.Ala681Val) c.1760C>T (p.Ala587Val) c.971C>T (p.Ala324Val) c.2798C>T (p.Ala933Val) c.2225C>T (p.Ala742Val) c.2150C>T (p.Ala717Val) c.827C>T (p.Ala276Val) | gnomAD v4 |
3 | g.38894945G>C | CA145435 | SCN11A | c.2423C>G (p.Ala808Gly) c.2243C>G (p.Ala748Gly) c.2467C>G (n.2467C>G) c.2042C>G (p.Ala681Gly) c.1760C>G (p.Ala587Gly) c.971C>G (p.Ala324Gly) c.2798C>G (p.Ala933Gly) c.2225C>G (p.Ala742Gly) c.2150C>G (p.Ala717Gly) c.827C>G (p.Ala276Gly) | ClinVar dbSNP |
3 | g.38894945G= | CA1358718304 | SCN11A | c.2423C= (p.Ala808=) c.2243C= (p.Ala748=) c.2467C= (n.2467C=) c.2042C= (p.Ala681=) c.1760C= (p.Ala587=) c.971C= (p.Ala324=) c.2798C= (p.Ala933=) c.2225C= (p.Ala742=) c.2150C= (p.Ala717=) c.827C= (p.Ala276=) | |
3 | g.38894945G>T | CA352175178 | SCN11A | c.2423C>A (p.Ala808Asp) c.2243C>A (p.Ala748Asp) c.2467C>A (n.2467C>A) c.2042C>A (p.Ala681Asp) c.1760C>A (p.Ala587Asp) c.971C>A (p.Ala324Asp) c.2798C>A (p.Ala933Asp) c.2225C>A (p.Ala742Asp) c.2150C>A (p.Ala717Asp) c.827C>A (p.Ala276Asp) | ClinVar dbSNP |
3 | g.38894946C>A | CA352175181 | SCN11A | c.2422G>T (p.Ala808Ser) c.2242G>T (p.Ala748Ser) c.2466G>T (n.2466G>T) c.2041G>T (p.Ala681Ser) c.1759G>T (p.Ala587Ser) c.970G>T (p.Ala324Ser) c.2797G>T (p.Ala933Ser) c.2224G>T (p.Ala742Ser) c.2149G>T (p.Ala717Ser) c.826G>T (p.Ala276Ser) | gnomAD v4 |
3 | g.38894946C>G | CA352175179 | SCN11A | c.2422G>C (p.Ala808Pro) c.2242G>C (p.Ala748Pro) c.2466G>C (n.2466G>C) c.2041G>C (p.Ala681Pro) c.1759G>C (p.Ala587Pro) c.970G>C (p.Ala324Pro) c.2797G>C (p.Ala933Pro) c.2224G>C (p.Ala742Pro) c.2149G>C (p.Ala717Pro) c.826G>C (p.Ala276Pro) | |
3 | g.38894946C>T | CA352175180 | SCN11A | c.2422G>A (p.Ala808Thr) c.2242G>A (p.Ala748Thr) c.2466G>A (n.2466G>A) c.2041G>A (p.Ala681Thr) c.1759G>A (p.Ala587Thr) c.970G>A (p.Ala324Thr) c.2797G>A (p.Ala933Thr) c.2224G>A (p.Ala742Thr) c.2149G>A (p.Ala717Thr) c.826G>A (p.Ala276Thr) | |
3 | g.38894947A>C | CA352175182 | SCN11A | c.2421T>G (p.Ile807Met) c.2241T>G (p.Ile747Met) c.2465T>G (n.2465T>G) c.2040T>G (p.Ile680Met) c.1758T>G (p.Ile586Met) c.969T>G (p.Ile323Met) c.2796T>G (p.Ile932Met) c.2223T>G (p.Ile741Met) c.2148T>G (p.Ile716Met) c.825T>G (p.Ile275Met) | |
3 | g.38894947A>G | CA433336245 | SCN11A | c.2421T>C (p.Ile807=) c.2241T>C (p.Ile747=) c.2465T>C (n.2465T>C) c.2040T>C (p.Ile680=) c.1758T>C (p.Ile586=) c.969T>C (p.Ile323=) c.2796T>C (p.Ile932=) c.2223T>C (p.Ile741=) c.2148T>C (p.Ile716=) c.825T>C (p.Ile275=) | |
3 | g.38894947A>T | CA433336246 | SCN11A | c.2421T>A (p.Ile807=) c.2241T>A (p.Ile747=) c.2465T>A (n.2465T>A) c.2040T>A (p.Ile680=) c.1758T>A (p.Ile586=) c.969T>A (p.Ile323=) c.2796T>A (p.Ile932=) c.2223T>A (p.Ile741=) c.2148T>A (p.Ile716=) c.825T>A (p.Ile275=) | gnomAD v4 |
3 | g.38894948A>C | CA352175183 | SCN11A | c.2420T>G (p.Ile807Ser) c.2240T>G (p.Ile747Ser) c.2464T>G (n.2464T>G) c.2039T>G (p.Ile680Ser) c.1757T>G (p.Ile586Ser) c.968T>G (p.Ile323Ser) c.2795T>G (p.Ile932Ser) c.2222T>G (p.Ile741Ser) c.2147T>G (p.Ile716Ser) c.824T>G (p.Ile275Ser) | |
3 | g.38894948A>G | CA352175184 | SCN11A | c.2420T>C (p.Ile807Thr) c.2240T>C (p.Ile747Thr) c.2464T>C (n.2464T>C) c.2039T>C (p.Ile680Thr) c.1757T>C (p.Ile586Thr) c.968T>C (p.Ile323Thr) c.2795T>C (p.Ile932Thr) c.2222T>C (p.Ile741Thr) c.2147T>C (p.Ile716Thr) c.824T>C (p.Ile275Thr) | |
3 | g.38894948A>T | CA352175185 | SCN11A | c.2420T>A (p.Ile807Asn) c.2240T>A (p.Ile747Asn) c.2464T>A (n.2464T>A) c.2039T>A (p.Ile680Asn) c.1757T>A (p.Ile586Asn) c.968T>A (p.Ile323Asn) c.2795T>A (p.Ile932Asn) c.2222T>A (p.Ile741Asn) c.2147T>A (p.Ile716Asn) c.824T>A (p.Ile275Asn) | |
3 | g.38894949T>A | CA352175186 | SCN11A | c.2419A>T (p.Ile807Phe) c.2239A>T (p.Ile747Phe) c.2463A>T (n.2463A>T) c.2038A>T (p.Ile680Phe) c.1756A>T (p.Ile586Phe) c.967A>T (p.Ile323Phe) c.2794A>T (p.Ile932Phe) c.2221A>T (p.Ile741Phe) c.2146A>T (p.Ile716Phe) c.823A>T (p.Ile275Phe) | |
3 | g.38894949T>C | CA72997931 | SCN11A | c.2419A>G (p.Ile807Val) c.2239A>G (p.Ile747Val) c.2463A>G (n.2463A>G) c.2038A>G (p.Ile680Val) c.1756A>G (p.Ile586Val) c.967A>G (p.Ile323Val) c.2794A>G (p.Ile932Val) c.2221A>G (p.Ile741Val) c.2146A>G (p.Ile716Val) c.823A>G (p.Ile275Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894949T>G | CA352175187 | SCN11A | c.2419A>C (p.Ile807Leu) c.2239A>C (p.Ile747Leu) c.2463A>C (n.2463A>C) c.2038A>C (p.Ile680Leu) c.1756A>C (p.Ile586Leu) c.967A>C (p.Ile323Leu) c.2794A>C (p.Ile932Leu) c.2221A>C (p.Ile741Leu) c.2146A>C (p.Ile716Leu) c.823A>C (p.Ile275Leu) | |
3 | g.38894949T= | CA1358718306 | SCN11A | c.2419A= (p.Ile807=) c.2239A= (p.Ile747=) c.2463A= (n.2463A=) c.2038A= (p.Ile680=) c.1756A= (p.Ile586=) c.967A= (p.Ile323=) c.2794A= (p.Ile932=) c.2221A= (p.Ile741=) c.2146A= (p.Ile716=) c.823A= (p.Ile275=) | |
3 | g.38894949_38894952delinsTGAA | CA1358718305 | SCN11A | c.2416_2419delinsTTCA (p.Phe806=) c.2236_2239delinsTTCA (p.Phe746=) c.2460_2463delinsTTCA (n.2460_2463delinsTTCA) c.2035_2038delinsTTCA (p.Phe679=) c.1753_1756delinsTTCA (p.Phe585=) c.964_967delinsTTCA (p.Phe322=) c.2791_2794delinsTTCA (p.Phe931=) c.2218_2221delinsTTCA (p.Phe740=) c.2143_2146delinsTTCA (p.Phe715=) c.820_823delinsTTCA (p.Phe274=) | |
3 | g.38894950G>A | CA433336247 | SCN11A | c.2418C>T (p.Phe806=) c.2238C>T (p.Phe746=) c.2462C>T (n.2462C>T) c.2037C>T (p.Phe679=) c.1755C>T (p.Phe585=) c.966C>T (p.Phe322=) c.2793C>T (p.Phe931=) c.2220C>T (p.Phe740=) c.2145C>T (p.Phe715=) c.822C>T (p.Phe274=) | |
3 | g.38894950G>C | CA352175188 | SCN11A | c.2418C>G (p.Phe806Leu) c.2238C>G (p.Phe746Leu) c.2462C>G (n.2462C>G) c.2037C>G (p.Phe679Leu) c.1755C>G (p.Phe585Leu) c.966C>G (p.Phe322Leu) c.2793C>G (p.Phe931Leu) c.2220C>G (p.Phe740Leu) c.2145C>G (p.Phe715Leu) c.822C>G (p.Phe274Leu) | |
3 | g.38894950G>T | CA352175189 | SCN11A | c.2418C>A (p.Phe806Leu) c.2238C>A (p.Phe746Leu) c.2462C>A (n.2462C>A) c.2037C>A (p.Phe679Leu) c.1755C>A (p.Phe585Leu) c.966C>A (p.Phe322Leu) c.2793C>A (p.Phe931Leu) c.2220C>A (p.Phe740Leu) c.2145C>A (p.Phe715Leu) c.822C>A (p.Phe274Leu) | |
3 | g.38894952_38894954del | CA2322037 | SCN11A | c.2416_2418del (p.Phe806del) c.2236_2238del (p.Phe746del) c.2460_2462del (n.2460_2462del) c.2035_2037del (p.Phe679del) c.1753_1755del (p.Phe585del) c.964_966del (p.Phe322del) c.2791_2793del (p.Phe931del) c.2218_2220del (p.Phe740del) c.2143_2145del (p.Phe715del) c.820_822del (p.Phe274del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894951A>C | CA352175192 | SCN11A | c.2417T>G (p.Phe806Cys) c.2237T>G (p.Phe746Cys) c.2461T>G (n.2461T>G) c.2036T>G (p.Phe679Cys) c.1754T>G (p.Phe585Cys) c.965T>G (p.Phe322Cys) c.2792T>G (p.Phe931Cys) c.2219T>G (p.Phe740Cys) c.2144T>G (p.Phe715Cys) c.821T>G (p.Phe274Cys) | |
3 | g.38894951A>G | CA352175191 | SCN11A | c.2417T>C (p.Phe806Ser) c.2237T>C (p.Phe746Ser) c.2461T>C (n.2461T>C) c.2036T>C (p.Phe679Ser) c.1754T>C (p.Phe585Ser) c.965T>C (p.Phe322Ser) c.2792T>C (p.Phe931Ser) c.2219T>C (p.Phe740Ser) c.2144T>C (p.Phe715Ser) c.821T>C (p.Phe274Ser) | |
3 | g.38894951A>T | CA352175190 | SCN11A | c.2417T>A (p.Phe806Tyr) c.2237T>A (p.Phe746Tyr) c.2461T>A (n.2461T>A) c.2036T>A (p.Phe679Tyr) c.1754T>A (p.Phe585Tyr) c.965T>A (p.Phe322Tyr) c.2792T>A (p.Phe931Tyr) c.2219T>A (p.Phe740Tyr) c.2144T>A (p.Phe715Tyr) c.821T>A (p.Phe274Tyr) | |
3 | g.38894952A>C | CA352175193 | SCN11A | c.2416T>G (p.Phe806Val) c.2236T>G (p.Phe746Val) c.2460T>G (n.2460T>G) c.2035T>G (p.Phe679Val) c.1753T>G (p.Phe585Val) c.964T>G (p.Phe322Val) c.2791T>G (p.Phe931Val) c.2218T>G (p.Phe740Val) c.2143T>G (p.Phe715Val) c.820T>G (p.Phe274Val) | |
3 | g.38894952A>G | CA352175194 | SCN11A | c.2416T>C (p.Phe806Leu) c.2236T>C (p.Phe746Leu) c.2460T>C (n.2460T>C) c.2035T>C (p.Phe679Leu) c.1753T>C (p.Phe585Leu) c.964T>C (p.Phe322Leu) c.2791T>C (p.Phe931Leu) c.2218T>C (p.Phe740Leu) c.2143T>C (p.Phe715Leu) c.820T>C (p.Phe274Leu) | |
3 | g.38894952A>T | CA352175195 | SCN11A | c.2416T>A (p.Phe806Ile) c.2236T>A (p.Phe746Ile) c.2460T>A (n.2460T>A) c.2035T>A (p.Phe679Ile) c.1753T>A (p.Phe585Ile) c.964T>A (p.Phe322Ile) c.2791T>A (p.Phe931Ile) c.2218T>A (p.Phe740Ile) c.2143T>A (p.Phe715Ile) c.820T>A (p.Phe274Ile) | |
3 | g.38894953G>A | CA433336249 | SCN11A | c.2415C>T (p.Leu805=) c.2235C>T (p.Leu745=) c.2459C>T (n.2459C>T) c.2034C>T (p.Leu678=) c.1752C>T (p.Leu584=) c.963C>T (p.Leu321=) c.2790C>T (p.Leu930=) c.2217C>T (p.Leu739=) c.2142C>T (p.Leu714=) c.819C>T (p.Leu273=) | |
3 | g.38894953G>C | CA433336250 | SCN11A | c.2415C>G (p.Leu805=) c.2235C>G (p.Leu745=) c.2459C>G (n.2459C>G) c.2034C>G (p.Leu678=) c.1752C>G (p.Leu584=) c.963C>G (p.Leu321=) c.2790C>G (p.Leu930=) c.2217C>G (p.Leu739=) c.2142C>G (p.Leu714=) c.819C>G (p.Leu273=) | |
3 | g.38894953G>T | CA433336248 | SCN11A | c.2415C>A (p.Leu805=) c.2235C>A (p.Leu745=) c.2459C>A (n.2459C>A) c.2034C>A (p.Leu678=) c.1752C>A (p.Leu584=) c.963C>A (p.Leu321=) c.2790C>A (p.Leu930=) c.2217C>A (p.Leu739=) c.2142C>A (p.Leu714=) c.819C>A (p.Leu273=) | |
3 | g.38894954A>C | CA352175196 | SCN11A | c.2414T>G (p.Leu805Arg) c.2234T>G (p.Leu745Arg) c.2458T>G (n.2458T>G) c.2033T>G (p.Leu678Arg) c.1751T>G (p.Leu584Arg) c.962T>G (p.Leu321Arg) c.2789T>G (p.Leu930Arg) c.2216T>G (p.Leu739Arg) c.2141T>G (p.Leu714Arg) c.818T>G (p.Leu273Arg) | |
3 | g.38894954A>G | CA352175197 | SCN11A | c.2414T>C (p.Leu805Pro) c.2234T>C (p.Leu745Pro) c.2458T>C (n.2458T>C) c.2033T>C (p.Leu678Pro) c.1751T>C (p.Leu584Pro) c.962T>C (p.Leu321Pro) c.2789T>C (p.Leu930Pro) c.2216T>C (p.Leu739Pro) c.2141T>C (p.Leu714Pro) c.818T>C (p.Leu273Pro) | |
3 | g.38894954A>T | CA352175198 | SCN11A | c.2414T>A (p.Leu805His) c.2234T>A (p.Leu745His) c.2458T>A (n.2458T>A) c.2033T>A (p.Leu678His) c.1751T>A (p.Leu584His) c.962T>A (p.Leu321His) c.2789T>A (p.Leu930His) c.2216T>A (p.Leu739His) c.2141T>A (p.Leu714His) c.818T>A (p.Leu273His) | |
3 | g.38894955G>A | CA2322038 | SCN11A | c.2413C>T (p.Leu805Phe) c.2233C>T (p.Leu745Phe) c.2457C>T (n.2457C>T) c.2032C>T (p.Leu678Phe) c.1750C>T (p.Leu584Phe) c.961C>T (p.Leu321Phe) c.2788C>T (p.Leu930Phe) c.2215C>T (p.Leu739Phe) c.2140C>T (p.Leu714Phe) c.817C>T (p.Leu273Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894955G>C | CA352175200 | SCN11A | c.2413C>G (p.Leu805Val) c.2233C>G (p.Leu745Val) c.2457C>G (n.2457C>G) c.2032C>G (p.Leu678Val) c.1750C>G (p.Leu584Val) c.961C>G (p.Leu321Val) c.2788C>G (p.Leu930Val) c.2215C>G (p.Leu739Val) c.2140C>G (p.Leu714Val) c.817C>G (p.Leu273Val) | gnomAD v4 |
3 | g.38894955G= | CA1358718307 | SCN11A | c.2413C= (p.Leu805=) c.2233C= (p.Leu745=) c.2457C= (n.2457C=) c.2032C= (p.Leu678=) c.1750C= (p.Leu584=) c.961C= (p.Leu321=) c.2788C= (p.Leu930=) c.2215C= (p.Leu739=) c.2140C= (p.Leu714=) c.817C= (p.Leu273=) | |
3 | g.38894955G>T | CA352175199 | SCN11A | c.2413C>A (p.Leu805Ile) c.2233C>A (p.Leu745Ile) c.2457C>A (n.2457C>A) c.2032C>A (p.Leu678Ile) c.1750C>A (p.Leu584Ile) c.961C>A (p.Leu321Ile) c.2788C>A (p.Leu930Ile) c.2215C>A (p.Leu739Ile) c.2140C>A (p.Leu714Ile) c.817C>A (p.Leu273Ile) | |
3 | g.38894956G>A | CA2322039 | SCN11A | c.2412C>T (p.Asn804=) c.2232C>T (p.Asn744=) c.2456C>T (n.2456C>T) c.2031C>T (p.Asn677=) c.1749C>T (p.Asn583=) c.960C>T (p.Asn320=) c.2787C>T (p.Asn929=) c.2214C>T (p.Asn738=) c.2139C>T (p.Asn713=) c.816C>T (p.Asn272=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38894956G>C | CA352175201 | SCN11A | c.2412C>G (p.Asn804Lys) c.2232C>G (p.Asn744Lys) c.2456C>G (n.2456C>G) c.2031C>G (p.Asn677Lys) c.1749C>G (p.Asn583Lys) c.960C>G (p.Asn320Lys) c.2787C>G (p.Asn929Lys) c.2214C>G (p.Asn738Lys) c.2139C>G (p.Asn713Lys) c.816C>G (p.Asn272Lys) | |
3 | g.38894956G= | CA1358718308 | SCN11A | c.2412C= (p.Asn804=) c.2232C= (p.Asn744=) c.2456C= (n.2456C=) c.2031C= (p.Asn677=) c.1749C= (p.Asn583=) c.960C= (p.Asn320=) c.2787C= (p.Asn929=) c.2214C= (p.Asn738=) c.2139C= (p.Asn713=) c.816C= (p.Asn272=) | |
3 | g.38894956G>T | CA352175202 | SCN11A | c.2412C>A (p.Asn804Lys) c.2232C>A (p.Asn744Lys) c.2456C>A (n.2456C>A) c.2031C>A (p.Asn677Lys) c.1749C>A (p.Asn583Lys) c.960C>A (p.Asn320Lys) c.2787C>A (p.Asn929Lys) c.2214C>A (p.Asn738Lys) c.2139C>A (p.Asn713Lys) c.816C>A (p.Asn272Lys) | |
3 | g.38894957T>A | CA352175203 | SCN11A | c.2411A>T (p.Asn804Ile) c.2231A>T (p.Asn744Ile) c.2455A>T (n.2455A>T) c.2030A>T (p.Asn677Ile) c.1748A>T (p.Asn583Ile) c.959A>T (p.Asn320Ile) c.2786A>T (p.Asn929Ile) c.2213A>T (p.Asn738Ile) c.2138A>T (p.Asn713Ile) c.815A>T (p.Asn272Ile) | dbSNP |
3 | g.38894957T>C | CA352175204 | SCN11A | c.2411A>G (p.Asn804Ser) c.2231A>G (p.Asn744Ser) c.2455A>G (n.2455A>G) c.2030A>G (p.Asn677Ser) c.1748A>G (p.Asn583Ser) c.959A>G (p.Asn320Ser) c.2786A>G (p.Asn929Ser) c.2213A>G (p.Asn738Ser) c.2138A>G (p.Asn713Ser) c.815A>G (p.Asn272Ser) | COSMIC |
3 | g.38894957T>G | CA352175205 | SCN11A | c.2411A>C (p.Asn804Thr) c.2231A>C (p.Asn744Thr) c.2455A>C (n.2455A>C) c.2030A>C (p.Asn677Thr) c.1748A>C (p.Asn583Thr) c.959A>C (p.Asn320Thr) c.2786A>C (p.Asn929Thr) c.2213A>C (p.Asn738Thr) c.2138A>C (p.Asn713Thr) c.815A>C (p.Asn272Thr) | |
3 | g.38894957T= | CA1358718309 | SCN11A | c.2411A= (p.Asn804=) c.2231A= (p.Asn744=) c.2455A= (n.2455A=) c.2030A= (p.Asn677=) c.1748A= (p.Asn583=) c.959A= (p.Asn320=) c.2786A= (p.Asn929=) c.2213A= (p.Asn738=) c.2138A= (p.Asn713=) c.815A= (p.Asn272=) | |
3 | g.38894958T>A | CA352175206 | SCN11A | c.2410A>T (p.Asn804Tyr) c.2230A>T (p.Asn744Tyr) c.2454A>T (n.2454A>T) c.2029A>T (p.Asn677Tyr) c.1747A>T (p.Asn583Tyr) c.958A>T (p.Asn320Tyr) c.2785A>T (p.Asn929Tyr) c.2212A>T (p.Asn738Tyr) c.2137A>T (p.Asn713Tyr) c.814A>T (p.Asn272Tyr) | |
3 | g.38894958T>C | CA352175208 | SCN11A | c.2410A>G (p.Asn804Asp) c.2230A>G (p.Asn744Asp) c.2454A>G (n.2454A>G) c.2029A>G (p.Asn677Asp) c.1747A>G (p.Asn583Asp) c.958A>G (p.Asn320Asp) c.2785A>G (p.Asn929Asp) c.2212A>G (p.Asn738Asp) c.2137A>G (p.Asn713Asp) c.814A>G (p.Asn272Asp) | |
3 | g.38894958T>G | CA352175207 | SCN11A | c.2410A>C (p.Asn804His) c.2230A>C (p.Asn744His) c.2454A>C (n.2454A>C) c.2029A>C (p.Asn677His) c.1747A>C (p.Asn583His) c.958A>C (p.Asn320His) c.2785A>C (p.Asn929His) c.2212A>C (p.Asn738His) c.2137A>C (p.Asn713His) c.814A>C (p.Asn272His) | |
3 | g.38894959G>A | CA433336251 | SCN11A | c.2409C>T (p.Leu803=) c.2229C>T (p.Leu743=) c.2453C>T (n.2453C>T) c.2028C>T (p.Leu676=) c.1746C>T (p.Leu582=) c.957C>T (p.Leu319=) c.2784C>T (p.Leu928=) c.2211C>T (p.Leu737=) c.2136C>T (p.Leu712=) c.813C>T (p.Leu271=) | |
3 | g.38894959G>C | CA433336253 | SCN11A | c.2409C>G (p.Leu803=) c.2229C>G (p.Leu743=) c.2453C>G (n.2453C>G) c.2028C>G (p.Leu676=) c.1746C>G (p.Leu582=) c.957C>G (p.Leu319=) c.2784C>G (p.Leu928=) c.2211C>G (p.Leu737=) c.2136C>G (p.Leu712=) c.813C>G (p.Leu271=) | |
3 | g.38894959G= | CA1358718310 | SCN11A | c.2409C= (p.Leu803=) c.2229C= (p.Leu743=) c.2453C= (n.2453C=) c.2028C= (p.Leu676=) c.1746C= (p.Leu582=) c.957C= (p.Leu319=) c.2784C= (p.Leu928=) c.2211C= (p.Leu737=) c.2136C= (p.Leu712=) c.813C= (p.Leu271=) | |
3 | g.38894959G>T | CA433336252 | SCN11A | c.2409C>A (p.Leu803=) c.2229C>A (p.Leu743=) c.2453C>A (n.2453C>A) c.2028C>A (p.Leu676=) c.1746C>A (p.Leu582=) c.957C>A (p.Leu319=) c.2784C>A (p.Leu928=) c.2211C>A (p.Leu737=) c.2136C>A (p.Leu712=) c.813C>A (p.Leu271=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |