| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51769014C>A | CA479789883 | SCN8A | c.3051C>A (p.Ala1017=) c.898C>A c.1115C>A c.3084C>A (p.Ala1028=) n.43C>A | |
| 12 | g.51769014C>G | CA479789882 | SCN8A | c.3051C>G (p.Ala1017=) c.898C>G c.1115C>G c.3084C>G (p.Ala1028=) n.43C>G | |
| 12 | g.51769014C>T | CA479789881 | SCN8A | c.3051C>T (p.Ala1017=) c.898C>T c.1115C>T c.3084C>T (p.Ala1028=) n.43C>T | gnomAD v4 |
| 12 | g.51769015T>A | CA384892192 | SCN8A | c.3052T>A (p.Phe1018Ile) c.899T>A c.1116T>A c.3085T>A (p.Phe1029Ile) n.44T>A | |
| 12 | g.51769015T>C | CA384892193 | SCN8A | c.3052T>C (p.Phe1018Leu) c.899T>C c.1116T>C c.3085T>C (p.Phe1029Leu) n.44T>C | |
| 12 | g.51769015T>G | CA384892194 | SCN8A | c.3052T>G (p.Phe1018Val) c.899T>G c.1116T>G c.3085T>G (p.Phe1029Val) n.44T>G | |
| 12 | g.51769016T>A | CA384892195 | SCN8A | c.3053T>A (p.Phe1018Tyr) c.900T>A c.1117T>A c.3086T>A (p.Phe1029Tyr) n.45T>A | |
| 12 | g.51769016T>C | CA384892197 | SCN8A | c.3053T>C (p.Phe1018Ser) c.900T>C c.1117T>C c.3086T>C (p.Phe1029Ser) n.45T>C | gnomAD v4 |
| 12 | g.51769016T>G | CA384892199 | SCN8A | c.3053T>G (p.Phe1018Cys) c.900T>G c.1117T>G c.3086T>G (p.Phe1029Cys) n.45T>G | |
| 12 | g.51769017C>A | CA384892201 | SCN8A | c.3054C>A (p.Phe1018Leu) c.901C>A c.1118C>A c.3087C>A (p.Phe1029Leu) n.46C>A | |
| 12 | g.51769017C= | CA2036187963 | SCN8A | c.3054C= (p.Phe1018=) c.901C= c.1118C= c.3087C= (p.Phe1029=) n.46C= | |
| 12 | g.51769017C>G | CA384892203 | SCN8A | c.3054C>G (p.Phe1018Leu) c.901C>G c.1118C>G c.3087C>G (p.Phe1029Leu) n.46C>G | |
| 12 | g.51769017C>T | CA236318525 | SCN8A | c.3054C>T (p.Phe1018=) c.901C>T c.1118C>T c.3087C>T (p.Phe1029=) n.46C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.51769018A>C | CA384892204 | SCN8A | c.3055A>C (p.Met1019Leu) c.902A>C c.1119A>C c.3088A>C (p.Met1030Leu) n.47A>C | |
| 12 | g.51769018A>G | CA384892206 | SCN8A | c.3055A>G (p.Met1019Val) c.902A>G c.1119A>G c.3088A>G (p.Met1030Val) n.47A>G | gnomAD v4 |
| 12 | g.51769018A>T | CA384892205 | SCN8A | c.3055A>T (p.Met1019Leu) c.902A>T c.1119A>T c.3088A>T (p.Met1030Leu) n.47A>T | |
| 12 | g.51769019T>A | CA384892208 | SCN8A | c.3056T>A (p.Met1019Lys) c.903T>A c.1120T>A c.3089T>A (p.Met1030Lys) n.48T>A | |
| 12 | g.51769019T>C | CA384892212 | SCN8A | c.3056T>C (p.Met1019Thr) c.903T>C c.1120T>C c.3089T>C (p.Met1030Thr) n.48T>C | |
| 12 | g.51769019T>G | CA384892210 | SCN8A | c.3056T>G (p.Met1019Arg) c.903T>G c.1120T>G c.3089T>G (p.Met1030Arg) n.48T>G | |
| 12 | g.51769020G>A | CA384892214 | SCN8A | c.3057G>A (p.Met1019Ile) c.904G>A c.1121G>A c.3090G>A (p.Met1030Ile) n.49G>A | |
| 12 | g.51769020G>C | CA384892216 | SCN8A | c.3057G>C (p.Met1019Ile) c.904G>C c.1121G>C c.3090G>C (p.Met1030Ile) n.49G>C | |
| 12 | g.51769020G>T | CA384892217 | SCN8A | c.3057G>T (p.Met1019Ile) c.904G>T c.1121G>T c.3090G>T (p.Met1030Ile) n.49G>T | |
| 12 | g.51769021C>A | CA384892218 | SCN8A | c.3058C>A (p.Gln1020Lys) c.905C>A c.1122C>A c.3091C>A (p.Gln1031Lys) n.50C>A | |
| 12 | g.51769021C>G | CA384892219 | SCN8A | c.3058C>G (p.Gln1020Glu) c.905C>G c.1122C>G c.3091C>G (p.Gln1031Glu) n.50C>G | |
| 12 | g.51769021C>T | CA384892221 | SCN8A | c.3058C>T (p.Gln1020Ter) c.905C>T c.1122C>T c.3091C>T (p.Gln1031Ter) n.50C>T | |
| 12 | g.51769022A>C | CA384892224 | SCN8A | c.3059A>C (p.Gln1020Pro) c.906A>C c.1123A>C c.3092A>C (p.Gln1031Pro) n.51A>C | |
| 12 | g.51769022A>G | CA384892226 | SCN8A | c.3059A>G (p.Gln1020Arg) c.906A>G c.1123A>G c.3092A>G (p.Gln1031Arg) n.51A>G | |
| 12 | g.51769022A>T | CA384892228 | SCN8A | c.3059A>T (p.Gln1020Leu) c.906A>T c.1123A>T c.3092A>T (p.Gln1031Leu) n.51A>T | |
| 12 | g.51769023G>A | CA234891 | SCN8A | c.3060G>A (p.Gln1020=) c.907G>A c.1124G>A c.3093G>A (p.Gln1031=) n.52G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769023G>C | CA10641732 | SCN8A | c.3060G>C (p.Gln1020His) c.907G>C c.1124G>C c.3093G>C (p.Gln1031His) n.52G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51769023G= | CA2036187972 | SCN8A | c.3060G= (p.Gln1020=) c.907G= c.1124G= c.3093G= (p.Gln1031=) n.52G= | |
| 12 | g.51769023G>T | CA384892233 | SCN8A | c.3060G>T (p.Gln1020His) c.907G>T c.1124G>T c.3093G>T (p.Gln1031His) n.52G>T | |
| 12 | g.51769024G>A | CA384892240 | SCN8A | c.3061G>A (p.Ala1021Thr) c.908G>A c.1125G>A c.3094G>A (p.Ala1032Thr) n.53G>A | |
| 12 | g.51769024G>C | CA6571539 | SCN8A | c.3061G>C (p.Ala1021Pro) c.908G>C c.1125G>C c.3094G>C (p.Ala1032Pro) n.53G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769024G= | CA2036187980 | SCN8A | c.3061G= (p.Ala1021=) c.908G= c.1125G= c.3094G= (p.Ala1032=) n.53G= | |
| 12 | g.51769024G>T | CA384892238 | SCN8A | c.3061G>T (p.Ala1021Ser) c.908G>T c.1125G>T c.3094G>T (p.Ala1032Ser) n.53G>T | ClinVar dbSNP |
| 12 | g.51769025C>A | CA384892243 | SCN8A | c.3062C>A (p.Ala1021Asp) c.909C>A c.1126C>A c.3095C>A (p.Ala1032Asp) n.54C>A | |
| 12 | g.51769025C>G | CA384892245 | SCN8A | c.3062C>G (p.Ala1021Gly) c.909C>G c.1126C>G c.3095C>G (p.Ala1032Gly) n.54C>G | |
| 12 | g.51769025C>T | CA384892247 | SCN8A | c.3062C>T (p.Ala1021Val) c.909C>T c.1126C>T c.3095C>T (p.Ala1032Val) n.54C>T | |
| 12 | g.51769026C>A | CA479789927 | SCN8A | c.3063C>A (p.Ala1021=) c.910C>A c.1127C>A c.3096C>A (p.Ala1032=) n.55C>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51769026C= | CA2036187992 | SCN8A | c.3063C= (p.Ala1021=) c.910C= c.1127C= c.3096C= (p.Ala1032=) n.55C= | |
| 12 | g.51769026C>G | CA479789929 | SCN8A | c.3063C>G (p.Ala1021=) c.910C>G c.1127C>G c.3096C>G (p.Ala1032=) n.55C>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51769026C>T | CA479789931 | SCN8A | c.3063C>T (p.Ala1021=) c.910C>T c.1127C>T c.3096C>T (p.Ala1032=) n.55C>T | |
| 12 | g.51769027C>A | CA384892249 | SCN8A | c.3064C>A (p.His1022Asn) c.911C>A c.1128C>A c.3097C>A (p.His1033Asn) n.56C>A | |
| 12 | g.51769027C>G | CA384892251 | SCN8A | c.3064C>G (p.His1022Asp) c.911C>G c.1128C>G c.3097C>G (p.His1033Asp) n.56C>G | COSMIC COSMIC |
| 12 | g.51769027C>T | CA384892254 | SCN8A | c.3064C>T (p.His1022Tyr) c.911C>T c.1128C>T c.3097C>T (p.His1033Tyr) n.56C>T | gnomAD v4 COSMIC COSMIC |
| 12 | g.51769028A= | CA2036187997 | SCN8A | c.3065A= (p.His1022=) c.912A= c.1129A= c.3098A= (p.His1033=) n.57A= | |
| 12 | g.51769028A>C | CA384892258 | SCN8A | c.3065A>C (p.His1022Pro) c.912A>C c.1129A>C c.3098A>C (p.His1033Pro) n.57A>C | |
| 12 | g.51769028A>G | CA384892260 | SCN8A | c.3065A>G (p.His1022Arg) c.912A>G c.1129A>G c.3098A>G (p.His1033Arg) n.57A>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51769028A>T | CA384892262 | SCN8A | c.3065A>T (p.His1022Leu) c.912A>T c.1129A>T c.3098A>T (p.His1033Leu) n.57A>T | |
| 12 | g.51769029C>A | CA384892266 | SCN8A | c.3066C>A (p.His1022Gln) c.913C>A c.1130C>A c.3099C>A (p.His1033Gln) n.58C>A | |
| 12 | g.51769029C= | CA2036188004 | SCN8A | c.3066C= (p.His1022=) c.913C= c.1130C= c.3099C= (p.His1033=) n.58C= | |
| 12 | g.51769029C>G | CA6571540 | SCN8A | c.3066C>G (p.His1022Gln) c.913C>G c.1130C>G c.3099C>G (p.His1033Gln) n.58C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51769029C>T | CA479789943 | SCN8A | c.3066C>T (p.His1022=) c.913C>T c.1130C>T c.3099C>T (p.His1033=) n.58C>T | |
| 12 | g.51769030T>A | CA384892276 | SCN8A | c.3067T>A (p.Phe1023Ile) c.914T>A c.1131T>A c.3100T>A (p.Phe1034Ile) n.59T>A | |
| 12 | g.51769030T>C | CA384892274 | SCN8A | c.3067T>C (p.Phe1023Leu) c.914T>C c.1131T>C c.3100T>C (p.Phe1034Leu) n.59T>C | |
| 12 | g.51769030T>G | CA384892270 | SCN8A | c.3067T>G (p.Phe1023Val) c.914T>G c.1131T>G c.3100T>G (p.Phe1034Val) n.59T>G | gnomAD v4 |
| 12 | g.51769031T>A | CA384892277 | SCN8A | c.3068T>A (p.Phe1023Tyr) c.915T>A c.1132T>A c.3101T>A (p.Phe1034Tyr) n.60T>A | |
| 12 | g.51769031T>C | CA384892279 | SCN8A | c.3068T>C (p.Phe1023Ser) c.915T>C c.1132T>C c.3101T>C (p.Phe1034Ser) n.60T>C | |
| 12 | g.51769031T>G | CA384892281 | SCN8A | c.3068T>G (p.Phe1023Cys) c.915T>G c.1132T>G c.3101T>G (p.Phe1034Cys) n.60T>G | ClinVar |
| 12 | g.51769032T>A | CA384892283 | SCN8A | c.3069T>A (p.Phe1023Leu) c.916T>A c.1133T>A c.3102T>A (p.Phe1034Leu) n.61T>A | |
| 12 | g.51769032T>C | CA479789952 | SCN8A | c.3069T>C (p.Phe1023=) c.916T>C c.1133T>C c.3102T>C (p.Phe1034=) n.61T>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51769032T>G | CA384892285 | SCN8A | c.3069T>G (p.Phe1023Leu) c.916T>G c.1133T>G c.3102T>G (p.Phe1034Leu) n.61T>G | dbSNP |
| 12 | g.51769032T= | CA2036188010 | SCN8A | c.3069T= (p.Phe1023=) c.916T= c.1133T= c.3102T= (p.Phe1034=) n.61T= | |
| 12 | g.51769033A= | CA2036188020 | SCN8A | c.3070A= (p.Lys1024=) c.917A= c.1134A= c.3103A= (p.Lys1035=) n.62A= | |
| 12 | g.51769033A>C | CA384892287 | SCN8A | c.3070A>C (p.Lys1024Gln) c.917A>C c.1134A>C c.3103A>C (p.Lys1035Gln) n.62A>C | |
| 12 | g.51769033A>G | CA384892289 | SCN8A | c.3070A>G (p.Lys1024Glu) c.917A>G c.1134A>G c.3103A>G (p.Lys1035Glu) n.62A>G | |
| 12 | g.51769033A>T | CA384892292 | SCN8A | c.3070A>T (p.Lys1024Ter) c.917A>T c.1134A>T c.3103A>T (p.Lys1035Ter) n.62A>T | dbSNP |
| 12 | g.51769034A>C | CA384892295 | SCN8A | c.3071A>C (p.Lys1024Thr) c.918A>C c.1135A>C c.3104A>C (p.Lys1035Thr) n.63A>C | |
| 12 | g.51769034A>G | CA384892297 | SCN8A | c.3071A>G (p.Lys1024Arg) c.918A>G c.1135A>G c.3104A>G (p.Lys1035Arg) n.63A>G | |
| 12 | g.51769034A>T | CA384892298 | SCN8A | c.3071A>T (p.Lys1024Met) c.918A>T c.1135A>T c.3104A>T (p.Lys1035Met) n.63A>T | |
| 12 | g.51769035G>A | CA479789963 | SCN8A | c.3072G>A (p.Lys1024=) c.919G>A c.1136G>A c.3105G>A (p.Lys1035=) n.64G>A | |
| 12 | g.51769035G>C | CA384892301 | SCN8A | c.3072G>C (p.Lys1024Asn) c.919G>C c.1136G>C c.3105G>C (p.Lys1035Asn) n.64G>C | |
| 12 | g.51769035G>T | CA384892303 | SCN8A | c.3072G>T (p.Lys1024Asn) c.919G>T c.1136G>T c.3105G>T (p.Lys1035Asn) n.64G>T | COSMIC COSMIC |
| 12 | g.51769036C>A | CA384892309 | SCN8A | c.3073C>A (p.Gln1025Lys) c.920C>A c.1137C>A c.3106C>A (p.Gln1036Lys) n.65C>A | |
| 12 | g.51769036C>G | CA384892305 | SCN8A | c.3073C>G (p.Gln1025Glu) c.920C>G c.1137C>G c.3106C>G (p.Gln1036Glu) n.65C>G | |
| 12 | g.51769036C>T | CA384892307 | SCN8A | c.3073C>T (p.Gln1025Ter) c.920C>T c.1137C>T c.3106C>T (p.Gln1036Ter) n.65C>T | |
| 12 | g.51769037A>C | CA384892311 | SCN8A | c.3074A>C (p.Gln1025Pro) c.921A>C c.1138A>C c.3107A>C (p.Gln1036Pro) n.66A>C | |
| 12 | g.51769037A>G | CA384892312 | SCN8A | c.3074A>G (p.Gln1025Arg) c.921A>G c.1138A>G c.3107A>G (p.Gln1036Arg) n.66A>G | |
| 12 | g.51769037A>T | CA384892313 | SCN8A | c.3074A>T (p.Gln1025Leu) c.921A>T c.1138A>T c.3107A>T (p.Gln1036Leu) n.66A>T | |
| 12 | g.51769038G>A | CA479789974 | SCN8A | c.3075G>A (p.Gln1025=) c.922G>A c.1139G>A c.3108G>A (p.Gln1036=) n.67G>A | |
| 12 | g.51769038G>C | CA384892314 | SCN8A | c.3075G>C (p.Gln1025His) c.922G>C c.1139G>C c.3108G>C (p.Gln1036His) n.67G>C | |
| 12 | g.51769038G>T | CA384892315 | SCN8A | c.3075G>T (p.Gln1025His) c.922G>T c.1139G>T c.3108G>T (p.Gln1036His) n.67G>T | |
| 12 | g.51769039C>A | CA384892316 | SCN8A | c.3076C>A (p.Arg1026Ser) c.923C>A c.1140C>A c.3109C>A (p.Arg1037Ser) n.68C>A | gnomAD v4 |
| 12 | g.51769039C= | CA2036188030 | SCN8A | c.3076C= (p.Arg1026=) c.923C= c.1140C= c.3109C= (p.Arg1037=) n.68C= | |
| 12 | g.51769039C>G | CA384892318 | SCN8A | c.3076C>G (p.Arg1026Gly) c.923C>G c.1140C>G c.3109C>G (p.Arg1037Gly) n.68C>G | |
| 12 | g.51769039C>T | CA289034 | SCN8A | c.3076C>T (p.Arg1026Cys) c.923C>T c.1140C>T c.3109C>T (p.Arg1037Cys) n.68C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769040G>A | CA6571541 | SCN8A | c.3077G>A (p.Arg1026His) c.924G>A c.1141G>A c.3110G>A (p.Arg1037His) n.69G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769040G>C | CA384892322 | SCN8A | c.3077G>C (p.Arg1026Pro) c.924G>C c.1141G>C c.3110G>C (p.Arg1037Pro) n.69G>C | |
| 12 | g.51769040G= | CA2036188035 | SCN8A | c.3077G= (p.Arg1026=) c.924G= c.1141G= c.3110G= (p.Arg1037=) n.69G= | |
| 12 | g.51769040G>T | CA6571542 | SCN8A | c.3077G>T (p.Arg1026Leu) c.924G>T c.1141G>T c.3110G>T (p.Arg1037Leu) n.69G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769041T>A | CA479789985 | SCN8A | c.3078T>A (p.Arg1026=) c.925T>A c.1142T>A c.3111T>A (p.Arg1037=) n.70T>A | |
| 12 | g.51769041T>C | CA479789988 | SCN8A | c.3078T>C (p.Arg1026=) c.925T>C c.1142T>C c.3111T>C (p.Arg1037=) n.70T>C | |
| 12 | g.51769041T>G | CA479789989 | SCN8A | c.3078T>G (p.Arg1026=) c.925T>G c.1142T>G c.3111T>G (p.Arg1037=) n.70T>G | |
| 12 | g.51769042G>A | CA384892323 | SCN8A | c.3079G>A (p.Glu1027Lys) c.926G>A c.1143G>A c.3112G>A (p.Glu1038Lys) n.71G>A | |
| 12 | g.51769042G>C | CA384892327 | SCN8A | c.3079G>C (p.Glu1027Gln) c.926G>C c.1143G>C c.3112G>C (p.Glu1038Gln) n.71G>C | |
| 12 | g.51769042G>T | CA384892325 | SCN8A | c.3079G>T (p.Glu1027Ter) c.926G>T c.1143G>T c.3112G>T (p.Glu1038Ter) n.71G>T | |
| 12 | g.51769043A>C | CA384892329 | SCN8A | c.3080A>C (p.Glu1027Ala) c.927A>C c.1144A>C c.3113A>C (p.Glu1038Ala) n.72A>C | |
| 12 | g.51769043A>G | CA384892332 | SCN8A | c.3080A>G (p.Glu1027Gly) c.927A>G c.1144A>G c.3113A>G (p.Glu1038Gly) n.72A>G | |
| 12 | g.51769043A>T | CA384892330 | SCN8A | c.3080A>T (p.Glu1027Val) c.927A>T c.1144A>T c.3113A>T (p.Glu1038Val) n.72A>T | |
| 12 | g.51769044G>A | CA479789998 | SCN8A | c.3081G>A (p.Glu1027=) c.928G>A c.1145G>A c.3114G>A (p.Glu1038=) n.73G>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51769044G>C | CA384892334 | SCN8A | c.3081G>C (p.Glu1027Asp) c.928G>C c.1145G>C c.3114G>C (p.Glu1038Asp) n.73G>C | |
| 12 | g.51769044G= | CA2036188040 | SCN8A | c.3081G= (p.Glu1027=) c.928G= c.1145G= c.3114G= (p.Glu1038=) n.73G= | |
| 12 | g.51769044G>T | CA384892338 | SCN8A | c.3081G>T (p.Glu1027Asp) c.928G>T c.1145G>T c.3114G>T (p.Glu1038Asp) n.73G>T | COSMIC COSMIC |
| 12 | g.51769045G>A | CA236318538 | SCN8A | c.3082G>A (p.Ala1028Thr) c.929G>A c.1146G>A c.3115G>A (p.Ala1039Thr) n.74G>A | dbSNP gnomAD v4 |
| 12 | g.51769045G>C | CA384892341 | SCN8A | c.3082G>C (p.Ala1028Pro) c.929G>C c.1146G>C c.3115G>C (p.Ala1039Pro) n.74G>C | |
| 12 | g.51769045G= | CA2036188048 | SCN8A | c.3082G= (p.Ala1028=) c.929G= c.1146G= c.3115G= (p.Ala1039=) n.74G= | |
| 12 | g.51769045G>T | CA384892339 | SCN8A | c.3082G>T (p.Ala1028Ser) c.929G>T c.1146G>T c.3115G>T (p.Ala1039Ser) n.74G>T | COSMIC COSMIC |
| 12 | g.51769046C>A | CA384892344 | SCN8A | c.3083C>A (p.Ala1028Asp) c.930C>A c.1147C>A c.3116C>A (p.Ala1039Asp) n.75C>A | |
| 12 | g.51769046C= | CA2036188053 | SCN8A | c.3083C= (p.Ala1028=) c.930C= c.1147C= c.3116C= (p.Ala1039=) n.75C= | |
| 12 | g.51769046C>G | CA384892346 | SCN8A | c.3083C>G (p.Ala1028Gly) c.930C>G c.1147C>G c.3116C>G (p.Ala1039Gly) n.75C>G | ClinVar dbSNP |
| 12 | g.51769046C>T | CA384892348 | SCN8A | c.3083C>T (p.Ala1028Val) c.930C>T c.1147C>T c.3116C>T (p.Ala1039Val) n.75C>T | |
| 12 | g.51769047T>A | CA479790008 | SCN8A | c.3084T>A (p.Ala1028=) c.931T>A c.1148T>A c.3117T>A (p.Ala1039=) n.76T>A | |
| 12 | g.51769047T>C | CA6571543 | SCN8A | c.3084T>C (p.Ala1028=) c.931T>C c.1148T>C c.3117T>C (p.Ala1039=) n.76T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769047T>G | CA479790011 | SCN8A | c.3084T>G (p.Ala1028=) c.931T>G c.1148T>G c.3117T>G (p.Ala1039=) n.76T>G | |
| 12 | g.51769047T= | CA2036188057 | SCN8A | c.3084T= (p.Ala1028=) c.931T= c.1148T= c.3117T= (p.Ala1039=) n.76T= | |
| 12 | g.51769048G>A | CA384892349 | SCN8A | c.3085G>A (p.Asp1029Asn) c.932G>A c.1149G>A c.3118G>A (p.Asp1040Asn) n.77G>A | COSMIC COSMIC |
| 12 | g.51769048G>C | CA384892351 | SCN8A | c.3085G>C (p.Asp1029His) c.932G>C c.1149G>C c.3118G>C (p.Asp1040His) n.77G>C | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51769048G= | CA2036188060 | SCN8A | c.3085G= (p.Asp1029=) c.932G= c.1149G= c.3118G= (p.Asp1040=) n.77G= | |
| 12 | g.51769048G>T | CA384892353 | SCN8A | c.3085G>T (p.Asp1029Tyr) c.932G>T c.1149G>T c.3118G>T (p.Asp1040Tyr) n.77G>T | |
| 12 | g.51769049A>C | CA384892356 | SCN8A | c.3086A>C (p.Asp1029Ala) c.933A>C c.1150A>C c.3119A>C (p.Asp1040Ala) n.78A>C | |
| 12 | g.51769049A>G | CA384892358 | SCN8A | c.3086A>G (p.Asp1029Gly) c.933A>G c.1150A>G c.3119A>G (p.Asp1040Gly) n.78A>G | |
| 12 | g.51769049A>T | CA384892360 | SCN8A | c.3086A>T (p.Asp1029Val) c.933A>T c.1150A>T c.3119A>T (p.Asp1040Val) n.78A>T | ClinVar |
| 12 | g.51769050T>A | CA384892363 | SCN8A | c.3087T>A (p.Asp1029Glu) c.934T>A c.1151T>A c.3120T>A (p.Asp1040Glu) n.79T>A | |
| 12 | g.51769050T>C | CA479790020 | SCN8A | c.3087T>C (p.Asp1029=) c.934T>C c.1151T>C c.3120T>C (p.Asp1040=) n.79T>C | |
| 12 | g.51769050T>G | CA384892366 | SCN8A | c.3087T>G (p.Asp1029Glu) c.934T>G c.1151T>G c.3120T>G (p.Asp1040Glu) n.79T>G | |
| 12 | g.51769051G>A | CA384892369 | SCN8A | c.3088G>A (p.Glu1030Lys) c.935G>A c.1152G>A c.3121G>A (p.Glu1041Lys) n.80G>A | gnomAD v4 |
| 12 | g.51769051G>C | CA384892367 | SCN8A | c.3088G>C (p.Glu1030Gln) c.935G>C c.1152G>C c.3121G>C (p.Glu1041Gln) n.80G>C | |
| 12 | g.51769051G= | CA2036188062 | SCN8A | c.3088G= (p.Glu1030=) c.935G= c.1152G= c.3121G= (p.Glu1041=) n.80G= | |
| 12 | g.51769051G>T | CA384892368 | SCN8A | c.3088G>T (p.Glu1030Ter) c.935G>T c.1152G>T c.3121G>T (p.Glu1041Ter) n.80G>T | dbSNP |
| 12 | g.51769052A>C | CA384892371 | SCN8A | c.3089A>C (p.Glu1030Ala) c.936A>C c.1153A>C c.3122A>C (p.Glu1041Ala) n.81A>C | |
| 12 | g.51769052A>G | CA384892372 | SCN8A | c.3089A>G (p.Glu1030Gly) c.936A>G c.1153A>G c.3122A>G (p.Glu1041Gly) n.81A>G | |
| 12 | g.51769052A>T | CA384892374 | SCN8A | c.3089A>T (p.Glu1030Val) c.936A>T c.1153A>T c.3122A>T (p.Glu1041Val) n.81A>T | |
| 12 | g.51769053G>A | CA16607347 | SCN8A | c.3090G>A (p.Glu1030=) c.937G>A c.1154G>A c.3123G>A (p.Glu1041=) n.82G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51769053G>C | CA384892376 | SCN8A | c.3090G>C (p.Glu1030Asp) c.937G>C c.1154G>C c.3123G>C (p.Glu1041Asp) n.82G>C | |
| 12 | g.51769053G= | CA2036188065 | SCN8A | c.3090G= (p.Glu1030=) c.937G= c.1154G= c.3123G= (p.Glu1041=) n.82G= | |
| 12 | g.51769053G>T | CA384892377 | SCN8A | c.3090G>T (p.Glu1030Asp) c.937G>T c.1154G>T c.3123G>T (p.Glu1041Asp) n.82G>T | |
| 12 | g.51769054G>A | CA384892380 | SCN8A | c.3091G>A (p.Val1031Met) c.938G>A c.1155G>A c.3124G>A (p.Val1042Met) n.83G>A | gnomAD v4 |
| 12 | g.51769054G>C | CA384892382 | SCN8A | c.3091G>C (p.Val1031Leu) c.938G>C c.1155G>C c.3124G>C (p.Val1042Leu) n.83G>C | |
| 12 | g.51769054G= | CA2036188072 | SCN8A | c.3091G= (p.Val1031=) c.938G= c.1155G= c.3124G= (p.Val1042=) n.83G= | |
| 12 | g.51769054G>T | CA384892384 | SCN8A | c.3091G>T (p.Val1031Leu) c.938G>T c.1155G>T c.3124G>T (p.Val1042Leu) n.83G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51769055T>A | CA384892388 | SCN8A | c.3092T>A (p.Val1031Glu) c.939T>A c.1156T>A c.3125T>A (p.Val1042Glu) n.84T>A | |
| 12 | g.51769055T>C | CA16606571 | SCN8A | c.3092T>C (p.Val1031Ala) c.939T>C c.1156T>C c.3125T>C (p.Val1042Ala) n.84T>C | ClinVar dbSNP |
| 12 | g.51769055T>G | CA384892391 | SCN8A | c.3092T>G (p.Val1031Gly) c.939T>G c.1156T>G c.3125T>G (p.Val1042Gly) n.84T>G | |
| 12 | g.51769055T= | CA2036188076 | SCN8A | c.3092T= (p.Val1031=) c.939T= c.1156T= c.3125T= (p.Val1042=) n.84T= | |
| 12 | g.51769056G>A | CA6571544 | SCN8A | c.3093G>A (p.Val1031=) c.940G>A c.1157G>A c.3126G>A (p.Val1042=) n.85G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51769056G>C | CA479790043 | SCN8A | c.3093G>C (p.Val1031=) c.940G>C c.1157G>C c.3126G>C (p.Val1042=) n.85G>C | |
| 12 | g.51769056G= | CA2036188085 | SCN8A | c.3093G= (p.Val1031=) c.940G= c.1157G= c.3126G= (p.Val1042=) n.85G= | |
| 12 | g.51769056G>T | CA479790041 | SCN8A | c.3093G>T (p.Val1031=) c.940G>T c.1157G>T c.3126G>T (p.Val1042=) n.85G>T | |
| 12 | g.51769057A= | CA2036188091 | SCN8A | c.3094A= (p.Lys1032=) c.941A= c.1158A= c.3127A= (p.Lys1043=) n.86A= | |
| 12 | g.51769057A>C | CA384892399 | SCN8A | c.3094A>C (p.Lys1032Gln) c.941A>C c.1158A>C c.3127A>C (p.Lys1043Gln) n.86A>C | |
| 12 | g.51769057A>G | CA384892395 | SCN8A | c.3094A>G (p.Lys1032Glu) c.941A>G c.1158A>G c.3127A>G (p.Lys1043Glu) n.86A>G | |
| 12 | g.51769057A>T | CA384892397 | SCN8A | c.3094A>T (p.Lys1032Ter) c.941A>T c.1158A>T c.3127A>T (p.Lys1043Ter) n.86A>T | dbSNP |
| 12 | g.51769058A>C | CA384892402 | SCN8A | c.3095A>C (p.Lys1032Thr) c.942A>C c.1159A>C c.3128A>C (p.Lys1043Thr) n.87A>C | |
| 12 | g.51769058A>G | CA384892403 | SCN8A | c.3095A>G (p.Lys1032Arg) c.942A>G c.1159A>G c.3128A>G (p.Lys1043Arg) n.87A>G | |
| 12 | g.51769058A>T | CA384892405 | SCN8A | c.3095A>T (p.Lys1032Met) c.942A>T c.1159A>T c.3128A>T (p.Lys1043Met) n.87A>T | |
| 12 | g.51769059G>A | CA479790053 | SCN8A | c.3096G>A (p.Lys1032=) c.943G>A c.1160G>A c.3129G>A (p.Lys1043=) n.88G>A | |
| 12 | g.51769059G>C | CA384892407 | SCN8A | c.3096G>C (p.Lys1032Asn) c.943G>C c.1160G>C c.3129G>C (p.Lys1043Asn) n.88G>C | |
| 12 | g.51769059G>T | CA384892409 | SCN8A | c.3096G>T (p.Lys1032Asn) c.943G>T c.1160G>T c.3129G>T (p.Lys1043Asn) n.88G>T | ClinVar |
| 12 | g.51769060C>A | CA384892413 | SCN8A | c.3097C>A (p.Pro1033Thr) c.944C>A c.1161C>A c.3130C>A (p.Pro1044Thr) n.89C>A | |
| 12 | g.51769060C>G | CA384892415 | SCN8A | c.3097C>G (p.Pro1033Ala) c.944C>G c.1161C>G c.3130C>G (p.Pro1044Ala) n.89C>G | gnomAD v4 |
| 12 | g.51769060C>T | CA384892417 | SCN8A | c.3097C>T (p.Pro1033Ser) c.944C>T c.1161C>T c.3130C>T (p.Pro1044Ser) n.89C>T | |
| 12 | g.51769061C>A | CA384892419 | SCN8A | c.3098C>A (p.Pro1033His) c.945C>A c.1162C>A c.3131C>A (p.Pro1044His) n.90C>A | |
| 12 | g.51769061C= | CA2036188095 | SCN8A | c.3098C= (p.Pro1033=) c.945C= c.1162C= c.3131C= (p.Pro1044=) n.90C= | |
| 12 | g.51769061C>G | CA384892421 | SCN8A | c.3098C>G (p.Pro1033Arg) c.945C>G c.1162C>G c.3131C>G (p.Pro1044Arg) n.90C>G | dbSNP gnomAD v4 |
| 12 | g.51769061C>T | CA384892423 | SCN8A | c.3098C>T (p.Pro1033Leu) c.945C>T c.1162C>T c.3131C>T (p.Pro1044Leu) n.90C>T | |
| 12 | g.51769062T>A | CA479790063 | SCN8A | c.3099T>A (p.Pro1033=) c.946T>A c.1163T>A c.3132T>A (p.Pro1044=) n.91T>A | |
| 12 | g.51769062T>C | CA479790066 | SCN8A | c.3099T>C (p.Pro1033=) c.946T>C c.1163T>C c.3132T>C (p.Pro1044=) n.91T>C | |
| 12 | g.51769062T>G | CA479790064 | SCN8A | c.3099T>G (p.Pro1033=) c.946T>G c.1163T>G c.3132T>G (p.Pro1044=) n.91T>G | |
| 12 | g.51769063C>A | CA384892425 | SCN8A | c.3100C>A (p.Leu1034Met) c.947C>A c.1164C>A c.3133C>A (p.Leu1045Met) n.92C>A | |
| 12 | g.51769063C= | CA2036188098 | SCN8A | c.3100C= (p.Leu1034=) c.947C= c.1164C= c.3133C= (p.Leu1045=) n.92C= | |
| 12 | g.51769063C>G | CA384892427 | SCN8A | c.3100C>G (p.Leu1034Val) c.947C>G c.1164C>G c.3133C>G (p.Leu1045Val) n.92C>G | gnomAD v4 |
| 12 | g.51769063C>T | CA479790071 | SCN8A | c.3100C>T (p.Leu1034=) c.947C>T c.1164C>T c.3133C>T (p.Leu1045=) n.92C>T | dbSNP |
| 12 | g.51769064T>A | CA384892428 | SCN8A | c.3101T>A (p.Leu1034Gln) c.948T>A c.1165T>A c.3134T>A (p.Leu1045Gln) n.93T>A | |
| 12 | g.51769064T>C | CA384892429 | SCN8A | c.3101T>C (p.Leu1034Pro) c.948T>C c.1165T>C c.3134T>C (p.Leu1045Pro) n.93T>C | |
| 12 | g.51769064T>G | CA384892431 | SCN8A | c.3101T>G (p.Leu1034Arg) c.948T>G c.1165T>G c.3134T>G (p.Leu1045Arg) n.93T>G | |
| 12 | g.51769065G>A | CA236318545 | SCN8A | c.3102G>A (p.Leu1034=) c.949G>A c.1166G>A c.3135G>A (p.Leu1045=) n.94G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.51769065G>C | CA479790077 | SCN8A | c.3102G>C (p.Leu1034=) c.949G>C c.1166G>C c.3135G>C (p.Leu1045=) n.94G>C | |
| 12 | g.51769065G= | CA2036188103 | SCN8A | c.3102G= (p.Leu1034=) c.949G= c.1166G= c.3135G= (p.Leu1045=) n.94G= | |
| 12 | g.51769065G>T | CA479790079 | SCN8A | c.3102G>T (p.Leu1034=) c.949G>T c.1166G>T c.3135G>T (p.Leu1045=) n.94G>T | |
| 12 | g.51769066G>A | CA6571545 | SCN8A | c.3103G>A (p.Asp1035Asn) c.950G>A c.1167G>A c.3136G>A (p.Asp1046Asn) n.95G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51769066G>C | CA384892444 | SCN8A | c.3103G>C (p.Asp1035His) c.950G>C c.1167G>C c.3136G>C (p.Asp1046His) n.95G>C | |
| 12 | g.51769066G= | CA2036188111 | SCN8A | c.3103G= (p.Asp1035=) c.950G= c.1167G= c.3136G= (p.Asp1046=) n.95G= | |
| 12 | g.51769066G>T | CA384892447 | SCN8A | c.3103G>T (p.Asp1035Tyr) c.950G>T c.1167G>T c.3136G>T (p.Asp1046Tyr) n.95G>T | |
| 12 | g.51769067A= | CA2036188114 | SCN8A | c.3104A= (p.Asp1035=) c.951A= c.1168A= c.3137A= (p.Asp1046=) n.96A= | |
| 12 | g.51769067A>C | CA384892450 | SCN8A | c.3104A>C (p.Asp1035Ala) c.951A>C c.1168A>C c.3137A>C (p.Asp1046Ala) n.96A>C | |
| 12 | g.51769067A>G | CA384892451 | SCN8A | c.3104A>G (p.Asp1035Gly) c.951A>G c.1168A>G c.3137A>G (p.Asp1046Gly) n.96A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769067A>T | CA384892453 | SCN8A | c.3104A>T (p.Asp1035Val) c.951A>T c.1168A>T c.3137A>T (p.Asp1046Val) n.96A>T | |
| 12 | g.51769068T>A | CA384892456 | SCN8A | c.3105T>A (p.Asp1035Glu) c.952T>A c.1169T>A c.3138T>A (p.Asp1046Glu) n.97T>A | |
| 12 | g.51769068T>C | CA479790088 | SCN8A | c.3105T>C (p.Asp1035=) c.952T>C c.1169T>C c.3138T>C (p.Asp1046=) n.97T>C | |
| 12 | g.51769068T>G | CA384892458 | SCN8A | c.3105T>G (p.Asp1035Glu) c.952T>G c.1169T>G c.3138T>G (p.Asp1046Glu) n.97T>G | |
| 12 | g.51769069G>A | CA384892466 | SCN8A | c.3106G>A (p.Glu1036Lys) c.953G>A c.1170G>A c.3139G>A (p.Glu1047Lys) n.98G>A | |
| 12 | g.51769069G>C | CA6571546 | SCN8A | c.3106G>C (p.Glu1036Gln) c.953G>C c.1170G>C c.3139G>C (p.Glu1047Gln) n.98G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51769069G= | CA2036188119 | SCN8A | c.3106G= (p.Glu1036=) c.953G= c.1170G= c.3139G= (p.Glu1047=) n.98G= | |
| 12 | g.51769069G>T | CA384892463 | SCN8A | c.3106G>T (p.Glu1036Ter) c.953G>T c.1170G>T c.3139G>T (p.Glu1047Ter) n.98G>T | dbSNP |
| 12 | g.51769070del | CA645574764 | SCN8A | c.3107del (p.Glu1036GlyfsTer?) c.954del c.1171del c.3140del (p.Glu1047GlyfsTer?) n.99del | COSMIC COSMIC |
| 12 | g.51769070A>C | CA384892469 | SCN8A | c.3107A>C (p.Glu1036Ala) c.954A>C c.1171A>C c.3140A>C (p.Glu1047Ala) n.99A>C | gnomAD v4 |
| 12 | g.51769070A>G | CA384892476 | SCN8A | c.3107A>G (p.Glu1036Gly) c.954A>G c.1171A>G c.3140A>G (p.Glu1047Gly) n.99A>G | |
| 12 | g.51769070A>T | CA384892470 | SCN8A | c.3107A>T (p.Glu1036Val) c.954A>T c.1171A>T c.3140A>T (p.Glu1047Val) n.99A>T | |
| 12 | g.51769071G>A | CA479790098 | SCN8A | c.3108G>A (p.Glu1036=) c.955G>A c.1172G>A c.3141G>A (p.Glu1047=) n.100G>A | dbSNP gnomAD v4 |
| 12 | g.51769071G>C | CA384892477 | SCN8A | c.3108G>C (p.Glu1036Asp) c.955G>C c.1172G>C c.3141G>C (p.Glu1047Asp) n.100G>C | gnomAD v4 |
| 12 | g.51769071G= | CA2036188122 | SCN8A | c.3108G= (p.Glu1036=) c.955G= c.1172G= c.3141G= (p.Glu1047=) n.100G= | |
| 12 | g.51769071G>T | CA384892479 | SCN8A | c.3108G>T (p.Glu1036Asp) c.955G>T c.1172G>T c.3141G>T (p.Glu1047Asp) n.100G>T | |
| 12 | g.51769072T>A | CA384892482 | SCN8A | c.3109T>A (p.Leu1037Met) c.956T>A c.1173T>A c.3142T>A (p.Leu1048Met) n.101T>A | |
| 12 | g.51769072T>C | CA480061207 | SCN8A | c.3109T>C (p.Leu1037=) c.956T>C c.1173T>C c.3142T>C (p.Leu1048=) n.101T>C | ClinVar |
| 12 | g.51769072T>G | CA384892483 | SCN8A | c.3109T>G (p.Leu1037Val) c.956T>G c.1173T>G c.3142T>G (p.Leu1048Val) n.101T>G | |
| 12 | g.51769073T>A | CA384892486 | SCN8A | c.3110T>A (p.Leu1037Ter) c.957T>A c.1174T>A c.3143T>A (p.Leu1048Ter) n.102T>A | dbSNP |
| 12 | g.51769073T>C | CA384892487 | SCN8A | c.3110T>C (p.Leu1037Ser) c.957T>C c.1174T>C c.3143T>C (p.Leu1048Ser) n.102T>C | |
| 12 | g.51769073T>G | CA384892489 | SCN8A | c.3110T>G (p.Leu1037Trp) c.957T>G c.1174T>G c.3143T>G (p.Leu1048Trp) n.102T>G | COSMIC COSMIC |
| 12 | g.51769073T= | CA2036188128 | SCN8A | c.3110T= (p.Leu1037=) c.957T= c.1174T= c.3143T= (p.Leu1048=) n.102T= | |
| 12 | g.51769074G>A | CA480061208 | SCN8A | c.3111G>A (p.Leu1037=) c.958G>A c.1175G>A c.3144G>A (p.Leu1048=) n.103G>A | |
| 12 | g.51769074G>C | CA384892492 | SCN8A | c.3111G>C (p.Leu1037Phe) c.958G>C c.1175G>C c.3144G>C (p.Leu1048Phe) n.103G>C | |
| 12 | g.51769074G>T | CA384892494 | SCN8A | c.3111G>T (p.Leu1037Phe) c.958G>T c.1175G>T c.3144G>T (p.Leu1048Phe) n.103G>T | ClinVar gnomAD v4 |
| 12 | g.51769075T>A | CA384892496 | SCN8A | c.3112T>A (p.Tyr1038Asn) c.959T>A c.1176T>A c.3145T>A (p.Tyr1049Asn) n.104T>A | |
| 12 | g.51769075T>C | CA384892497 | SCN8A | c.3112T>C (p.Tyr1038His) c.959T>C c.1176T>C c.3145T>C (p.Tyr1049His) n.104T>C | |
| 12 | g.51769075T>G | CA384892498 | SCN8A | c.3112T>G (p.Tyr1038Asp) c.959T>G c.1176T>G c.3145T>G (p.Tyr1049Asp) n.104T>G | |
| 12 | g.51769076A= | CA2036188136 | SCN8A | c.3113A= (p.Tyr1038=) c.960A= c.1177A= c.3146A= (p.Tyr1049=) n.105A= | |
| 12 | g.51769076A>C | CA384892501 | SCN8A | c.3113A>C (p.Tyr1038Ser) c.960A>C c.1177A>C c.3146A>C (p.Tyr1049Ser) n.105A>C | |
| 12 | g.51769076A>G | CA384892499 | SCN8A | c.3113A>G (p.Tyr1038Cys) c.960A>G c.1177A>G c.3146A>G (p.Tyr1049Cys) n.105A>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.51769076A>T | CA384892500 | SCN8A | c.3113A>T (p.Tyr1038Phe) c.960A>T c.1177A>T c.3146A>T (p.Tyr1049Phe) n.105A>T | |
| 12 | g.51769077T>A | CA384892504 | SCN8A | c.3114T>A (p.Tyr1038Ter) c.961T>A c.1178T>A c.3147T>A (p.Tyr1049Ter) n.106T>A | |
| 12 | g.51769077T>C | CA480061209 | SCN8A | c.3114T>C (p.Tyr1038=) c.961T>C c.1178T>C c.3147T>C (p.Tyr1049=) n.106T>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51769077T>G | CA384892506 | SCN8A | c.3114T>G (p.Tyr1038Ter) c.961T>G c.1178T>G c.3147T>G (p.Tyr1049Ter) n.106T>G | |
| 12 | g.51769077T= | CA2036188140 | SCN8A | c.3114T= (p.Tyr1038=) c.961T= c.1178T= c.3147T= (p.Tyr1049=) n.106T= | |
| 12 | g.51769078G>A | CA384892507 | SCN8A | c.3115G>A (p.Glu1039Lys) c.962G>A c.1179G>A c.3148G>A (p.Glu1050Lys) n.107G>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51769078G>C | CA384892508 | SCN8A | c.3115G>C (p.Glu1039Gln) c.962G>C c.1179G>C c.3148G>C (p.Glu1050Gln) n.107G>C | |
| 12 | g.51769078G= | CA2036188142 | SCN8A | c.3115G= (p.Glu1039=) c.962G= c.1179G= c.3148G= (p.Glu1050=) n.107G= | |
| 12 | g.51769078G>T | CA384892509 | SCN8A | c.3115G>T (p.Glu1039Ter) c.962G>T c.1179G>T c.3148G>T (p.Glu1050Ter) n.107G>T | dbSNP |
| 12 | g.51769079A>C | CA384892511 | SCN8A | c.3116A>C (p.Glu1039Ala) c.963A>C c.1180A>C c.3149A>C (p.Glu1050Ala) n.108A>C | |
| 12 | g.51769079A>G | CA384892512 | SCN8A | c.3116A>G (p.Glu1039Gly) c.963A>G c.1180A>G c.3149A>G (p.Glu1050Gly) n.108A>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.51769079A>T | CA384892514 | SCN8A | c.3116A>T (p.Glu1039Val) c.963A>T c.1180A>T c.3149A>T (p.Glu1050Val) n.108A>T | |
| 12 | g.51769080A= | CA2036188145 | SCN8A | c.3117A= (p.Glu1039=) c.964A= c.1181A= c.3150A= (p.Glu1050=) n.109A= | |
| 12 | g.51769080A>C | CA384892516 | SCN8A | c.3117A>C (p.Glu1039Asp) c.964A>C c.1181A>C c.3150A>C (p.Glu1050Asp) n.109A>C | |
| 12 | g.51769080A>G | CA480061210 | SCN8A | c.3117A>G (p.Glu1039=) c.964A>G c.1181A>G c.3150A>G (p.Glu1050=) n.109A>G | dbSNP |
| 12 | g.51769080A>T | CA384892520 | SCN8A | c.3117A>T (p.Glu1039Asp) c.964A>T c.1181A>T c.3150A>T (p.Glu1050Asp) n.109A>T | |
| 12 | g.51769081A= | CA2036188150 | SCN8A | c.3118A= (p.Lys1040=) c.965A= c.1182A= c.3151A= (p.Lys1051=) n.110A= | |
| 12 | g.51769081A>C | CA384892526 | SCN8A | c.3118A>C (p.Lys1040Gln) c.965A>C c.1182A>C c.3151A>C (p.Lys1051Gln) n.110A>C | |
| 12 | g.51769081A>G | CA384892525 | SCN8A | c.3118A>G (p.Lys1040Glu) c.965A>G c.1182A>G c.3151A>G (p.Lys1051Glu) n.110A>G | |
| 12 | g.51769081A>T | CA384892523 | SCN8A | c.3118A>T (p.Lys1040Ter) c.965A>T c.1182A>T c.3151A>T (p.Lys1051Ter) n.110A>T | dbSNP |
| 12 | g.51769084_51769086del | CA2618841826 | SCN8A | c.3121_3123del (p.Lys1041del) c.968_970del c.1185_1187del c.3154_3156del (p.Lys1052del) n.113_115del | gnomAD v4 |
| 12 | g.51769082A>C | CA384892527 | SCN8A | c.3119A>C (p.Lys1040Thr) c.966A>C c.1183A>C c.3152A>C (p.Lys1051Thr) n.111A>C | |
| 12 | g.51769082A>G | CA384892529 | SCN8A | c.3119A>G (p.Lys1040Arg) c.966A>G c.1183A>G c.3152A>G (p.Lys1051Arg) n.111A>G | |
| 12 | g.51769082A>T | CA384892531 | SCN8A | c.3119A>T (p.Lys1040Met) c.966A>T c.1183A>T c.3152A>T (p.Lys1051Met) n.111A>T | |
| 12 | g.51769083G>A | CA480061211 | SCN8A | c.3120G>A (p.Lys1040=) c.967G>A c.1184G>A c.3153G>A (p.Lys1051=) n.112G>A | gnomAD v4 |
| 12 | g.51769083G>C | CA384892536 | SCN8A | c.3120G>C (p.Lys1040Asn) c.967G>C c.1184G>C c.3153G>C (p.Lys1051Asn) n.112G>C | |
| 12 | g.51769083G>T | CA384892538 | SCN8A | c.3120G>T (p.Lys1040Asn) c.967G>T c.1184G>T c.3153G>T (p.Lys1051Asn) n.112G>T | |
| 12 | g.51769084A>C | CA384892540 | SCN8A | c.3121A>C (p.Lys1041Gln) c.968A>C c.1185A>C c.3154A>C (p.Lys1052Gln) n.113A>C | |
| 12 | g.51769084A>G | CA384892542 | SCN8A | c.3121A>G (p.Lys1041Glu) c.968A>G c.1185A>G c.3154A>G (p.Lys1052Glu) n.113A>G | |
| 12 | g.51769084A>T | CA384892552 | SCN8A | c.3121A>T (p.Lys1041Ter) c.968A>T c.1185A>T c.3154A>T (p.Lys1052Ter) n.113A>T | |
| 12 | g.51769085A>C | CA384892555 | SCN8A | c.3122A>C (p.Lys1041Thr) c.969A>C c.1186A>C c.3155A>C (p.Lys1052Thr) n.114A>C | |
| 12 | g.51769085A>G | CA384892557 | SCN8A | c.3122A>G (p.Lys1041Arg) c.969A>G c.1186A>G c.3155A>G (p.Lys1052Arg) n.114A>G | COSMIC COSMIC |
| 12 | g.51769085A>T | CA384892559 | SCN8A | c.3122A>T (p.Lys1041Met) c.969A>T c.1186A>T c.3155A>T (p.Lys1052Met) n.114A>T | |
| 12 | g.51769086G>A | CA480061212 | SCN8A | c.3123G>A (p.Lys1041=) c.970G>A c.1187G>A c.3156G>A (p.Lys1052=) n.115G>A | |
| 12 | g.51769086G>C | CA384892562 | SCN8A | c.3123G>C (p.Lys1041Asn) c.970G>C c.1187G>C c.3156G>C (p.Lys1052Asn) n.115G>C | |
| 12 | g.51769086G= | CA2036188158 | SCN8A | c.3123G= (p.Lys1041=) c.970G= c.1187G= c.3156G= (p.Lys1052=) n.115G= | |
| 12 | g.51769086G>T | CA6571547 | SCN8A | c.3123G>T (p.Lys1041Asn) c.970G>T c.1187G>T c.3156G>T (p.Lys1052Asn) n.115G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51769087G>A | CA384892566 | SCN8A | c.3124G>A (p.Ala1042Thr) c.971G>A c.1188G>A c.3157G>A (p.Ala1053Thr) n.116G>A | ClinVar |
| 12 | g.51769087G>C | CA384892568 | SCN8A | c.3124G>C (p.Ala1042Pro) c.971G>C c.1188G>C c.3157G>C (p.Ala1053Pro) n.116G>C | |
| 12 | g.51769087G>T | CA384892567 | SCN8A | c.3124G>T (p.Ala1042Ser) c.971G>T c.1188G>T c.3157G>T (p.Ala1053Ser) n.116G>T | |
| 12 | g.51769088C>A | CA384892569 | SCN8A | c.3125C>A (p.Ala1042Asp) c.972C>A c.1189C>A c.3158C>A (p.Ala1053Asp) n.117C>A | |
| 12 | g.51769088C>G | CA384892570 | SCN8A | c.3125C>G (p.Ala1042Gly) c.972C>G c.1189C>G c.3158C>G (p.Ala1053Gly) n.117C>G | |
| 12 | g.51769088C>T | CA384892572 | SCN8A | c.3125C>T (p.Ala1042Val) c.972C>T c.1189C>T c.3158C>T (p.Ala1053Val) n.117C>T | |
| 12 | g.51769089C>A | CA480061215 | SCN8A | c.3126C>A (p.Ala1042=) c.973C>A c.1190C>A c.3159C>A (p.Ala1053=) n.118C>A | dbSNP gnomAD v2 |
| 12 | g.51769089C= | CA2036188162 | SCN8A | c.3126C= (p.Ala1042=) c.973C= c.1190C= c.3159C= (p.Ala1053=) n.118C= | |
| 12 | g.51769089C>G | CA480061213 | SCN8A | c.3126C>G (p.Ala1042=) c.973C>G c.1190C>G c.3159C>G (p.Ala1053=) n.118C>G | |
| 12 | g.51769089C>T | CA480061214 | SCN8A | c.3126C>T (p.Ala1042=) c.973C>T c.1190C>T c.3159C>T (p.Ala1053=) n.118C>T | |
| 12 | g.51769090A>C | CA384892575 | SCN8A | c.3127A>C (p.Asn1043His) c.974A>C c.1191A>C c.3160A>C (p.Asn1054His) n.119A>C | |
| 12 | g.51769090A>G | CA384892577 | SCN8A | c.3127A>G (p.Asn1043Asp) c.974A>G c.1191A>G c.3160A>G (p.Asn1054Asp) n.119A>G | ClinVar gnomAD v4 |
| 12 | g.51769090A>T | CA384892579 | SCN8A | c.3127A>T (p.Asn1043Tyr) c.974A>T c.1191A>T c.3160A>T (p.Asn1054Tyr) n.119A>T | |
| 12 | g.51769091A>C | CA384892581 | SCN8A | c.3128A>C (p.Asn1043Thr) c.975A>C c.1192A>C c.3161A>C (p.Asn1054Thr) n.120A>C | |
| 12 | g.51769091A>G | CA384892583 | SCN8A | c.3128A>G (p.Asn1043Ser) c.975A>G c.1192A>G c.3161A>G (p.Asn1054Ser) n.120A>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.51769091A>T | CA384892586 | SCN8A | c.3128A>T (p.Asn1043Ile) c.975A>T c.1192A>T c.3161A>T (p.Asn1054Ile) n.120A>T | |
| 12 | g.51769092C>A | CA384892591 | SCN8A | c.3129C>A (p.Asn1043Lys) c.976C>A c.1193C>A c.3162C>A (p.Asn1054Lys) n.121C>A | |
| 12 | g.51769092C= | CA2036188168 | SCN8A | c.3129C= (p.Asn1043=) c.976C= c.1193C= c.3162C= (p.Asn1054=) n.121C= | |
| 12 | g.51769092C>G | CA6571548 | SCN8A | c.3129C>G (p.Asn1043Lys) c.976C>G c.1193C>G c.3162C>G (p.Asn1054Lys) n.121C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769092C>T | CA480061216 | SCN8A | c.3129C>T (p.Asn1043=) c.976C>T c.1193C>T c.3162C>T (p.Asn1054=) n.121C>T | |
| 12 | g.51769093T>A | CA384892597 | SCN8A | c.3130T>A (p.Cys1044Ser) c.977T>A c.1194T>A c.3163T>A (p.Cys1055Ser) n.122T>A | |
| 12 | g.51769093T>C | CA384892599 | SCN8A | c.3130T>C (p.Cys1044Arg) c.977T>C c.1194T>C c.3163T>C (p.Cys1055Arg) n.122T>C | ClinVar dbSNP |
| 12 | g.51769093T>G | CA384892593 | SCN8A | c.3130T>G (p.Cys1044Gly) c.977T>G c.1194T>G c.3163T>G (p.Cys1055Gly) n.122T>G | |
| 12 | g.51769093T= | CA2036188179 | SCN8A | c.3130T= (p.Cys1044=) c.977T= c.1194T= c.3163T= (p.Cys1055=) n.122T= | |
| 12 | g.51769094G>A | CA384892608 | SCN8A | c.3131G>A (p.Cys1044Tyr) c.978G>A c.1195G>A c.3164G>A (p.Cys1055Tyr) n.123G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769094G>C | CA384892604 | SCN8A | c.3131G>C (p.Cys1044Ser) c.978G>C c.1195G>C c.3164G>C (p.Cys1055Ser) n.123G>C | |
| 12 | g.51769094G= | CA2036188186 | SCN8A | c.3131G= (p.Cys1044=) c.978G= c.1195G= c.3164G= (p.Cys1055=) n.123G= | |
| 12 | g.51769094G>T | CA384892610 | SCN8A | c.3131G>T (p.Cys1044Phe) c.978G>T c.1195G>T c.3164G>T (p.Cys1055Phe) n.123G>T | |
| 12 | g.51769095T>A | CA384892613 | SCN8A | c.3132T>A (p.Cys1044Ter) c.979T>A c.1196T>A c.3165T>A (p.Cys1055Ter) n.124T>A | dbSNP |
| 12 | g.51769095T>C | CA480061217 | SCN8A | c.3132T>C (p.Cys1044=) c.979T>C c.1196T>C c.3165T>C (p.Cys1055=) n.124T>C | |
| 12 | g.51769095T>G | CA384892615 | SCN8A | c.3132T>G (p.Cys1044Trp) c.979T>G c.1196T>G c.3165T>G (p.Cys1055Trp) n.124T>G | dbSNP |
| 12 | g.51769095T= | CA2036188191 | SCN8A | c.3132T= (p.Cys1044=) c.979T= c.1196T= c.3165T= (p.Cys1055=) n.124T= | |
| 12 | g.51769096A= | CA2036188196 | SCN8A | c.3133A= (p.Ile1045=) c.980A= c.1197A= c.3166A= (p.Ile1056=) n.125A= | |
| 12 | g.51769096A>C | CA384892618 | SCN8A | c.3133A>C (p.Ile1045Leu) c.980A>C c.1197A>C c.3166A>C (p.Ile1056Leu) n.125A>C | |
| 12 | g.51769096A>G | CA384892620 | SCN8A | c.3133A>G (p.Ile1045Val) c.980A>G c.1197A>G c.3166A>G (p.Ile1056Val) n.125A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51769096A>T | CA384892622 | SCN8A | c.3133A>T (p.Ile1045Phe) c.980A>T c.1197A>T c.3166A>T (p.Ile1056Phe) n.125A>T | |
| 12 | g.51769097T>A | CA384892627 | SCN8A | c.3134T>A (p.Ile1045Asn) c.981T>A c.1198T>A c.3167T>A (p.Ile1056Asn) n.126T>A | |
| 12 | g.51769097T>C | CA384892629 | SCN8A | c.3134T>C (p.Ile1045Thr) c.981T>C c.1198T>C c.3167T>C (p.Ile1056Thr) n.126T>C | |
| 12 | g.51769097T>G | CA384892631 | SCN8A | c.3134T>G (p.Ile1045Ser) c.981T>G c.1198T>G c.3167T>G (p.Ile1056Ser) n.126T>G | |
| 12 | g.51769098C>A | CA480061218 | SCN8A | c.3135C>A (p.Ile1045=) c.982C>A c.1199C>A c.3168C>A (p.Ile1056=) n.127C>A | |
| 12 | g.51769098C= | CA2036188204 | SCN8A | c.3135C= (p.Ile1045=) c.982C= c.1199C= c.3168C= (p.Ile1056=) n.127C= | |
| 12 | g.51769098C>G | CA384892633 | SCN8A | c.3135C>G (p.Ile1045Met) c.982C>G c.1199C>G c.3168C>G (p.Ile1056Met) n.127C>G | |
| 12 | g.51769098C>T | CA6571549 | SCN8A | c.3135C>T (p.Ile1045=) c.982C>T c.1199C>T c.3168C>T (p.Ile1056=) n.127C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.51769099G>A | CA6571550 | SCN8A | c.3136G>A (p.Ala1046Thr) c.983G>A c.1200G>A c.3169G>A (p.Ala1057Thr) n.128G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769099G>C | CA384892635 | SCN8A | c.3136G>C (p.Ala1046Pro) c.983G>C c.1200G>C c.3169G>C (p.Ala1057Pro) n.128G>C | |
| 12 | g.51769099G= | CA2036188214 | SCN8A | c.3136G= (p.Ala1046=) c.983G= c.1200G= c.3169G= (p.Ala1057=) n.128G= | |
| 12 | g.51769099G>T | CA384892638 | SCN8A | c.3136G>T (p.Ala1046Ser) c.983G>T c.1200G>T c.3169G>T (p.Ala1057Ser) n.128G>T | |
| 12 | g.51769100C>A | CA384892646 | SCN8A | c.3137C>A (p.Ala1046Asp) c.984C>A c.1201C>A c.3170C>A (p.Ala1057Asp) n.129C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51769100C= | CA2036188219 | SCN8A | c.3137C= (p.Ala1046=) c.984C= c.1201C= c.3170C= (p.Ala1057=) n.129C= | |
| 12 | g.51769100C>G | CA384892640 | SCN8A | c.3137C>G (p.Ala1046Gly) c.984C>G c.1201C>G c.3170C>G (p.Ala1057Gly) n.129C>G | dbSNP |
| 12 | g.51769100C>T | CA384892643 | SCN8A | c.3137C>T (p.Ala1046Val) c.984C>T c.1201C>T c.3170C>T (p.Ala1057Val) n.129C>T | |
| 12 | g.51769101C>A | CA480061219 | SCN8A | c.3138C>A (p.Ala1046=) c.985C>A c.1202C>A c.3171C>A (p.Ala1057=) n.130C>A | |
| 12 | g.51769101C= | CA2036188223 | SCN8A | c.3138C= (p.Ala1046=) c.985C= c.1202C= c.3171C= (p.Ala1057=) n.130C= | |
| 12 | g.51769101C>G | CA480061220 | SCN8A | c.3138C>G (p.Ala1046=) c.985C>G c.1202C>G c.3171C>G (p.Ala1057=) n.130C>G | |
| 12 | g.51769101C>T | CA480061221 | SCN8A | c.3138C>T (p.Ala1046=) c.985C>T c.1202C>T c.3171C>T (p.Ala1057=) n.130C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51769102A>C | CA384892647 | SCN8A | c.3139A>C (p.Asn1047His) c.986A>C c.1203A>C c.3172A>C (p.Asn1058His) n.131A>C | |
| 12 | g.51769102A>G | CA384892648 | SCN8A | c.3139A>G (p.Asn1047Asp) c.986A>G c.1203A>G c.3172A>G (p.Asn1058Asp) n.131A>G | |
| 12 | g.51769102A>T | CA384892650 | SCN8A | c.3139A>T (p.Asn1047Tyr) c.986A>T c.1203A>T c.3172A>T (p.Asn1058Tyr) n.131A>T | |
| 12 | g.51769103A= | CA2036188226 | SCN8A | c.3140A= (p.Asn1047=) c.987A= c.1204A= c.3173A= (p.Asn1058=) n.132A= | |
| 12 | g.51769103A>C | CA384892651 | SCN8A | c.3140A>C (p.Asn1047Thr) c.987A>C c.1204A>C c.3173A>C (p.Asn1058Thr) n.132A>C | |
| 12 | g.51769103A>G | CA6571551 | SCN8A | c.3140A>G (p.Asn1047Ser) c.987A>G c.1204A>G c.3173A>G (p.Asn1058Ser) n.132A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769103A>T | CA384892653 | SCN8A | c.3140A>T (p.Asn1047Ile) c.987A>T c.1204A>T c.3173A>T (p.Asn1058Ile) n.132A>T | gnomAD v4 |
| 12 | g.51769104T>A | CA384892654 | SCN8A | c.3141T>A (p.Asn1047Lys) c.988T>A c.1205T>A c.3174T>A (p.Asn1058Lys) n.133T>A | |
| 12 | g.51769104T>C | CA480061222 | SCN8A | c.3141T>C (p.Asn1047=) c.988T>C c.1205T>C c.3174T>C (p.Asn1058=) n.133T>C | |
| 12 | g.51769104T>G | CA384892656 | SCN8A | c.3141T>G (p.Asn1047Lys) c.988T>G c.1205T>G c.3174T>G (p.Asn1058Lys) n.133T>G | |
| 12 | g.51769105C>A | CA384892661 | SCN8A | c.3142C>A (p.His1048Asn) c.989C>A c.1206C>A c.3175C>A (p.His1059Asn) n.134C>A | |
| 12 | g.51769105C>G | CA384892662 | SCN8A | c.3142C>G (p.His1048Asp) c.989C>G c.1206C>G c.3175C>G (p.His1059Asp) n.134C>G | |
| 12 | g.51769105C>T | CA384892664 | SCN8A | c.3142C>T (p.His1048Tyr) c.989C>T c.1206C>T c.3175C>T (p.His1059Tyr) n.134C>T | gnomAD v4 |
| 12 | g.51769106A>C | CA384892673 | SCN8A | c.3143A>C (p.His1048Pro) c.990A>C c.1207A>C c.3176A>C (p.His1059Pro) n.135A>C | |
| 12 | g.51769106A>G | CA384892671 | SCN8A | c.3143A>G (p.His1048Arg) c.990A>G c.1207A>G c.3176A>G (p.His1059Arg) n.135A>G | |
| 12 | g.51769106A>T | CA384892668 | SCN8A | c.3143A>T (p.His1048Leu) c.990A>T c.1207A>T c.3176A>T (p.His1059Leu) n.135A>T | |
| 12 | g.51769107C>A | CA384892676 | SCN8A | c.3144C>A (p.His1048Gln) c.991C>A c.1208C>A c.3177C>A (p.His1059Gln) n.136C>A | |
| 12 | g.51769107C>G | CA384892678 | SCN8A | c.3144C>G (p.His1048Gln) c.991C>G c.1208C>G c.3177C>G (p.His1059Gln) n.136C>G | |
| 12 | g.51769107C>T | CA480061223 | SCN8A | c.3144C>T (p.His1048=) c.991C>T c.1208C>T c.3177C>T (p.His1059=) n.136C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.51769108A>C | CA384892681 | SCN8A | c.3145A>C (p.Thr1049Pro) c.992A>C c.1209A>C c.3178A>C (p.Thr1060Pro) n.137A>C | |
| 12 | g.51769108A>G | CA384892685 | SCN8A | c.3145A>G (p.Thr1049Ala) c.992A>G c.1209A>G c.3178A>G (p.Thr1060Ala) n.137A>G | |
| 12 | g.51769108A>T | CA384892686 | SCN8A | c.3145A>T (p.Thr1049Ser) c.992A>T c.1209A>T c.3178A>T (p.Thr1060Ser) n.137A>T | |
| 12 | g.51769109C>A | CA384892692 | SCN8A | c.3146C>A (p.Thr1049Asn) c.993C>A c.1210C>A c.3179C>A (p.Thr1060Asn) n.138C>A | |
| 12 | g.51769109C>G | CA384892694 | SCN8A | c.3146C>G (p.Thr1049Ser) c.993C>G c.1210C>G c.3179C>G (p.Thr1060Ser) n.138C>G | |
| 12 | g.51769109C>T | CA384892697 | SCN8A | c.3146C>T (p.Thr1049Ile) c.993C>T c.1210C>T c.3179C>T (p.Thr1060Ile) n.138C>T | |
| 12 | g.51769110C>A | CA480061224 | SCN8A | c.3147C>A (p.Thr1049=) c.994C>A c.1211C>A c.3180C>A (p.Thr1060=) n.139C>A | |
| 12 | g.51769110C= | CA2036188234 | SCN8A | c.3147C= (p.Thr1049=) c.994C= c.1211C= c.3180C= (p.Thr1060=) n.139C= | |
| 12 | g.51769110C>G | CA480061225 | SCN8A | c.3147C>G (p.Thr1049=) c.994C>G c.1211C>G c.3180C>G (p.Thr1060=) n.139C>G | |
| 12 | g.51769110C>T | CA6571552 | SCN8A | c.3147C>T (p.Thr1049=) c.994C>T c.1211C>T c.3180C>T (p.Thr1060=) n.139C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769111G>A | CA318321 | SCN8A | c.3148G>A (p.Gly1050Ser) c.995G>A c.1212G>A c.3181G>A (p.Gly1061Ser) n.140G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769111G>C | CA384892702 | SCN8A | c.3148G>C (p.Gly1050Arg) c.995G>C c.1212G>C c.3181G>C (p.Gly1061Arg) n.140G>C | |
| 12 | g.51769111G= | CA2036188241 | SCN8A | c.3148G= (p.Gly1050=) c.995G= c.1212G= c.3181G= (p.Gly1061=) n.140G= | |
| 12 | g.51769111G>T | CA384892703 | SCN8A | c.3148G>T (p.Gly1050Cys) c.995G>T c.1212G>T c.3181G>T (p.Gly1061Cys) n.140G>T | |
| 12 | g.51769112G>A | CA384892708 | SCN8A | c.3149G>A (p.Gly1050Asp) c.996G>A c.1213G>A c.3182G>A (p.Gly1061Asp) n.141G>A | gnomAD v4 |
| 12 | g.51769112G>C | CA384892707 | SCN8A | c.3149G>C (p.Gly1050Ala) c.996G>C c.1213G>C c.3182G>C (p.Gly1061Ala) n.141G>C | ClinVar dbSNP |
| 12 | g.51769112G>T | CA384892705 | SCN8A | c.3149G>T (p.Gly1050Val) c.996G>T c.1213G>T c.3182G>T (p.Gly1061Val) n.141G>T | |
| 12 | g.51769113T>A | CA480061226 | SCN8A | c.3150T>A (p.Gly1050=) c.997T>A c.1214T>A c.3183T>A (p.Gly1061=) n.142T>A | |
| 12 | g.51769113T>C | CA480061227 | SCN8A | c.3150T>C (p.Gly1050=) c.997T>C c.1214T>C c.3183T>C (p.Gly1061=) n.142T>C | |
| 12 | g.51769113T>G | CA6571553 | SCN8A | c.3150T>G (p.Gly1050=) c.997T>G c.1214T>G c.3183T>G (p.Gly1061=) n.142T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769113T= | CA2036188250 | SCN8A | c.3150T= (p.Gly1050=) c.997T= c.1214T= c.3183T= (p.Gly1061=) n.142T= | |
| 12 | g.51769114G>A | CA384892710 | SCN8A | c.3151G>A (p.Ala1051Thr) c.998G>A c.1215G>A c.3184G>A (p.Ala1062Thr) n.143G>A | COSMIC COSMIC |
| 12 | g.51769114G>C | CA384892712 | SCN8A | c.3151G>C (p.Ala1051Pro) c.998G>C c.1215G>C c.3184G>C (p.Ala1062Pro) n.143G>C | ClinVar |
| 12 | g.51769114G>T | CA384892715 | SCN8A | c.3151G>T (p.Ala1051Ser) c.998G>T c.1215G>T c.3184G>T (p.Ala1062Ser) n.143G>T |