| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51769146G>A | CA6571557 | SCN8A | c.3183G>A (p.Lys1061=) c.1030G>A c.1247G>A c.3216G>A (p.Lys1072=) n.175G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769146G>C | CA384892881 | SCN8A | c.3183G>C (p.Lys1061Asn) c.1030G>C c.1247G>C c.3216G>C (p.Lys1072Asn) n.175G>C | |
| 12 | g.51769146G= | CA2036188350 | SCN8A | c.3183G= (p.Lys1061=) c.1030G= c.1247G= c.3216G= (p.Lys1072=) n.175G= | |
| 12 | g.51769146G>T | CA384892880 | SCN8A | c.3183G>T (p.Lys1061Asn) c.1030G>T c.1247G>T c.3216G>T (p.Lys1072Asn) n.175G>T | |
| 12 | g.51769147A>C | CA384892882 | SCN8A | c.3184A>C (p.Asn1062His) c.1031A>C c.1248A>C c.3217A>C (p.Asn1073His) n.176A>C | |
| 12 | g.51769147A>G | CA384892885 | SCN8A | c.3184A>G (p.Asn1062Asp) c.1031A>G c.1248A>G c.3217A>G (p.Asn1073Asp) n.176A>G | |
| 12 | g.51769147A>T | CA384892884 | SCN8A | c.3184A>T (p.Asn1062Tyr) c.1031A>T c.1248A>T c.3217A>T (p.Asn1073Tyr) n.176A>T | |
| 12 | g.51769148A= | CA2036188355 | SCN8A | c.3185A= (p.Asn1062=) c.1032A= c.1249A= c.3218A= (p.Asn1073=) n.177A= | |
| 12 | g.51769148A>C | CA384892888 | SCN8A | c.3185A>C (p.Asn1062Thr) c.1032A>C c.1249A>C c.3218A>C (p.Asn1073Thr) n.177A>C | |
| 12 | g.51769148A>G | CA384892892 | SCN8A | c.3185A>G (p.Asn1062Ser) c.1032A>G c.1249A>G c.3218A>G (p.Asn1073Ser) n.177A>G | ClinVar dbSNP |
| 12 | g.51769148A>T | CA384892890 | SCN8A | c.3185A>T (p.Asn1062Ile) c.1032A>T c.1249A>T c.3218A>T (p.Asn1073Ile) n.177A>T | |
| 12 | g.51769149T>A | CA384892895 | SCN8A | c.3186T>A (p.Asn1062Lys) c.1033T>A c.1250T>A c.3219T>A (p.Asn1073Lys) n.178T>A | |
| 12 | g.51769149T>C | CA480061244 | SCN8A | c.3186T>C (p.Asn1062=) c.1033T>C c.1250T>C c.3219T>C (p.Asn1073=) n.178T>C | gnomAD v4 |
| 12 | g.51769149T>G | CA384892896 | SCN8A | c.3186T>G (p.Asn1062Lys) c.1033T>G c.1250T>G c.3219T>G (p.Asn1073Lys) n.178T>G | |
| 12 | g.51769150G>A | CA384892897 | SCN8A | c.3187G>A (p.Gly1063Ser) c.1034G>A c.1251G>A c.3220G>A (p.Gly1074Ser) n.179G>A | |
| 12 | g.51769150G>C | CA384892898 | SCN8A | c.3187G>C (p.Gly1063Arg) c.1034G>C c.1251G>C c.3220G>C (p.Gly1074Arg) n.179G>C | |
| 12 | g.51769150G>T | CA384892900 | SCN8A | c.3187G>T (p.Gly1063Cys) c.1034G>T c.1251G>T c.3220G>T (p.Gly1074Cys) n.179G>T | gnomAD v4 |
| 12 | g.51769151G>A | CA384892902 | SCN8A | c.3188G>A (p.Gly1063Asp) c.1035G>A c.1252G>A c.3221G>A (p.Gly1074Asp) n.180G>A | dbSNP |
| 12 | g.51769151G>C | CA384892904 | SCN8A | c.3188G>C (p.Gly1063Ala) c.1035G>C c.1252G>C c.3221G>C (p.Gly1074Ala) n.180G>C | |
| 12 | g.51769151G= | CA2036188363 | SCN8A | c.3188G= (p.Gly1063=) c.1035G= c.1252G= c.3221G= (p.Gly1074=) n.180G= | |
| 12 | g.51769151G>T | CA384892906 | SCN8A | c.3188G>T (p.Gly1063Val) c.1035G>T c.1252G>T c.3221G>T (p.Gly1074Val) n.180G>T | |
| 12 | g.51769152C>A | CA480061245 | SCN8A | c.3189C>A (p.Gly1063=) c.1036C>A c.1253C>A c.3222C>A (p.Gly1074=) n.181C>A | |
| 12 | g.51769152C>G | CA480061247 | SCN8A | c.3189C>G (p.Gly1063=) c.1036C>G c.1253C>G c.3222C>G (p.Gly1074=) n.181C>G | |
| 12 | g.51769152C>T | CA480061246 | SCN8A | c.3189C>T (p.Gly1063=) c.1036C>T c.1253C>T c.3222C>T (p.Gly1074=) n.181C>T | |
| 12 | g.51769153A= | CA2036188367 | SCN8A | c.3190A= (p.Asn1064=) c.1037A= c.1254A= c.3223A= (p.Asn1075=) n.182A= | |
| 12 | g.51769153A>C | CA384892908 | SCN8A | c.3190A>C (p.Asn1064His) c.1037A>C c.1254A>C c.3223A>C (p.Asn1075His) n.182A>C | |
| 12 | g.51769153A>G | CA384892910 | SCN8A | c.3190A>G (p.Asn1064Asp) c.1037A>G c.1254A>G c.3223A>G (p.Asn1075Asp) n.182A>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51769153A>T | CA384892912 | SCN8A | c.3190A>T (p.Asn1064Tyr) c.1037A>T c.1254A>T c.3223A>T (p.Asn1075Tyr) n.182A>T | |
| 12 | g.51769154A>C | CA384892921 | SCN8A | c.3191A>C (p.Asn1064Thr) c.1038A>C c.1255A>C c.3224A>C (p.Asn1075Thr) n.183A>C | |
| 12 | g.51769154A>G | CA384892918 | SCN8A | c.3191A>G (p.Asn1064Ser) c.1038A>G c.1255A>G c.3224A>G (p.Asn1075Ser) n.183A>G | gnomAD v4 |
| 12 | g.51769154A>T | CA384892916 | SCN8A | c.3191A>T (p.Asn1064Ile) c.1038A>T c.1255A>T c.3224A>T (p.Asn1075Ile) n.183A>T | |
| 12 | g.51769155T>A | CA384892924 | SCN8A | c.3192T>A (p.Asn1064Lys) c.1039T>A c.1256T>A c.3225T>A (p.Asn1075Lys) n.184T>A | |
| 12 | g.51769155T>C | CA480061248 | SCN8A | c.3192T>C (p.Asn1064=) c.1039T>C c.1256T>C c.3225T>C (p.Asn1075=) n.184T>C | |
| 12 | g.51769155T>G | CA384892926 | SCN8A | c.3192T>G (p.Asn1064Lys) c.1039T>G c.1256T>G c.3225T>G (p.Asn1075Lys) n.184T>G | |
| 12 | g.51769156G>A | CA384892929 | SCN8A | c.3193G>A (p.Gly1065Ser) c.1040G>A c.1257G>A c.3226G>A (p.Gly1076Ser) n.185G>A | |
| 12 | g.51769156G>C | CA384892931 | SCN8A | c.3193G>C (p.Gly1065Arg) c.1040G>C c.1257G>C c.3226G>C (p.Gly1076Arg) n.185G>C | |
| 12 | g.51769156G>T | CA384892932 | SCN8A | c.3193G>T (p.Gly1065Cys) c.1040G>T c.1257G>T c.3226G>T (p.Gly1076Cys) n.185G>T | |
| 12 | g.51769157G>A | CA384892934 | SCN8A | c.3194G>A (p.Gly1065Asp) c.1041G>A c.1258G>A c.3227G>A (p.Gly1076Asp) n.186G>A | gnomAD v4 |
| 12 | g.51769157G>C | CA384892936 | SCN8A | c.3194G>C (p.Gly1065Ala) c.1041G>C c.1258G>C c.3227G>C (p.Gly1076Ala) n.186G>C | |
| 12 | g.51769157G>T | CA384892938 | SCN8A | c.3194G>T (p.Gly1065Val) c.1041G>T c.1258G>T c.3227G>T (p.Gly1076Val) n.186G>T | |
| 12 | g.51769158C>A | CA480061249 | SCN8A | c.3195C>A (p.Gly1065=) c.1042C>A c.1259C>A c.3228C>A (p.Gly1076=) n.187C>A | |
| 12 | g.51769158C>G | CA480061250 | SCN8A | c.3195C>G (p.Gly1065=) c.1042C>G c.1259C>G c.3228C>G (p.Gly1076=) n.187C>G | |
| 12 | g.51769158C>T | CA480061251 | SCN8A | c.3195C>T (p.Gly1065=) c.1042C>T c.1259C>T c.3228C>T (p.Gly1076=) n.187C>T | gnomAD v4 |
| 12 | g.51769159A>C | CA384892939 | SCN8A | c.3196A>C (p.Thr1066Pro) c.1043A>C c.1260A>C c.3229A>C (p.Thr1077Pro) n.188A>C | |
| 12 | g.51769159A>G | CA384892941 | SCN8A | c.3196A>G (p.Thr1066Ala) c.1043A>G c.1260A>G c.3229A>G (p.Thr1077Ala) n.188A>G | |
| 12 | g.51769159A>T | CA384892942 | SCN8A | c.3196A>T (p.Thr1066Ser) c.1043A>T c.1260A>T c.3229A>T (p.Thr1077Ser) n.188A>T | |
| 12 | g.51769160C>A | CA384892952 | SCN8A | c.3197C>A (p.Thr1066Lys) c.1044C>A c.1261C>A c.3230C>A (p.Thr1077Lys) n.189C>A | dbSNP |
| 12 | g.51769160C= | CA2036188374 | SCN8A | c.3197C= (p.Thr1066=) c.1044C= c.1261C= c.3230C= (p.Thr1077=) n.189C= | |
| 12 | g.51769160C>G | CA384892949 | SCN8A | c.3197C>G (p.Thr1066Arg) c.1044C>G c.1261C>G c.3230C>G (p.Thr1077Arg) n.189C>G | |
| 12 | g.51769160C>T | CA384892945 | SCN8A | c.3197C>T (p.Thr1066Ile) c.1044C>T c.1261C>T c.3230C>T (p.Thr1077Ile) n.189C>T | |
| 12 | g.51769161A= | CA2036188380 | SCN8A | c.3198A= (p.Thr1066=) c.1045A= c.1262A= c.3231A= (p.Thr1077=) n.190A= | |
| 12 | g.51769161A>C | CA480061252 | SCN8A | c.3198A>C (p.Thr1066=) c.1045A>C c.1262A>C c.3231A>C (p.Thr1077=) n.190A>C | |
| 12 | g.51769161A>G | CA6571558 | SCN8A | c.3198A>G (p.Thr1066=) c.1045A>G c.1262A>G c.3231A>G (p.Thr1077=) n.190A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769161A>T | CA480061253 | SCN8A | c.3198A>T (p.Thr1066=) c.1045A>T c.1262A>T c.3231A>T (p.Thr1077=) n.190A>T | |
| 12 | g.51769162A>C | CA384892956 | SCN8A | c.3199A>C (p.Thr1067Pro) c.1046A>C c.1263A>C c.3232A>C (p.Thr1078Pro) n.191A>C | |
| 12 | g.51769162A>G | CA384892958 | SCN8A | c.3199A>G (p.Thr1067Ala) c.1046A>G c.1263A>G c.3232A>G (p.Thr1078Ala) n.191A>G | |
| 12 | g.51769162A>T | CA384892961 | SCN8A | c.3199A>T (p.Thr1067Ser) c.1046A>T c.1263A>T c.3232A>T (p.Thr1078Ser) n.191A>T | |
| 12 | g.51769163C>A | CA384892963 | SCN8A | c.3200C>A (p.Thr1067Asn) c.1047C>A c.1264C>A c.3233C>A (p.Thr1078Asn) n.192C>A | |
| 12 | g.51769163C>G | CA384892965 | SCN8A | c.3200C>G (p.Thr1067Ser) c.1047C>G c.1264C>G c.3233C>G (p.Thr1078Ser) n.192C>G | |
| 12 | g.51769163C>T | CA384892967 | SCN8A | c.3200C>T (p.Thr1067Ile) c.1047C>T c.1264C>T c.3233C>T (p.Thr1078Ile) n.192C>T | |
| 12 | g.51769164C>A | CA480061254 | SCN8A | c.3201C>A (p.Thr1067=) c.1048C>A c.1265C>A c.3234C>A (p.Thr1078=) n.193C>A | |
| 12 | g.51769164C>G | CA480061255 | SCN8A | c.3201C>G (p.Thr1067=) c.1048C>G c.1265C>G c.3234C>G (p.Thr1078=) n.193C>G | gnomAD v4 |
| 12 | g.51769164C>T | CA480061256 | SCN8A | c.3201C>T (p.Thr1067=) c.1048C>T c.1265C>T c.3234C>T (p.Thr1078=) n.193C>T | |
| 12 | g.51769165A>C | CA384892970 | SCN8A | c.3202A>C (p.Ser1068Arg) c.1049A>C c.1266A>C c.3235A>C (p.Ser1079Arg) n.194A>C | |
| 12 | g.51769165A>G | CA384892972 | SCN8A | c.3202A>G (p.Ser1068Gly) c.1049A>G c.1266A>G c.3235A>G (p.Ser1079Gly) n.194A>G | |
| 12 | g.51769165A>T | CA384892975 | SCN8A | c.3202A>T (p.Ser1068Cys) c.1049A>T c.1266A>T c.3235A>T (p.Ser1079Cys) n.194A>T | |
| 12 | g.51769166G>A | CA384892977 | SCN8A | c.3203G>A (p.Ser1068Asn) c.1050G>A c.1267G>A c.3236G>A (p.Ser1079Asn) n.195G>A | ClinVar dbSNP |
| 12 | g.51769166G>C | CA384892980 | SCN8A | c.3203G>C (p.Ser1068Thr) c.1050G>C c.1267G>C c.3236G>C (p.Ser1079Thr) n.195G>C | |
| 12 | g.51769166G= | CA2036188383 | SCN8A | c.3203G= (p.Ser1068=) c.1050G= c.1267G= c.3236G= (p.Ser1079=) n.195G= | |
| 12 | g.51769166G>T | CA384892982 | SCN8A | c.3203G>T (p.Ser1068Ile) c.1050G>T c.1267G>T c.3236G>T (p.Ser1079Ile) n.195G>T | |
| 12 | g.51769167C>A | CA384892989 | SCN8A | c.3204C>A (p.Ser1068Arg) c.1051C>A c.1268C>A c.3237C>A (p.Ser1079Arg) n.196C>A | |
| 12 | g.51769167C= | CA2036188385 | SCN8A | c.3204C= (p.Ser1068=) c.1051C= c.1268C= c.3237C= (p.Ser1079=) n.196C= | |
| 12 | g.51769167C>G | CA384892985 | SCN8A | c.3204C>G (p.Ser1068Arg) c.1051C>G c.1268C>G c.3237C>G (p.Ser1079Arg) n.196C>G | |
| 12 | g.51769167C>T | CA240911 | SCN8A | c.3204C>T (p.Ser1068=) c.1051C>T c.1268C>T c.3237C>T (p.Ser1079=) n.196C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769168G>A | CA16619560 | SCN8A | c.3205G>A (p.Gly1069Ser) c.1052G>A c.1269G>A c.3238G>A (p.Gly1080Ser) n.197G>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.51769168G>C | CA384892992 | SCN8A | c.3205G>C (p.Gly1069Arg) c.1052G>C c.1269G>C c.3238G>C (p.Gly1080Arg) n.197G>C | |
| 12 | g.51769168G= | CA2036188389 | SCN8A | c.3205G= (p.Gly1069=) c.1052G= c.1269G= c.3238G= (p.Gly1080=) n.197G= | |
| 12 | g.51769168G>T | CA384892995 | SCN8A | c.3205G>T (p.Gly1069Cys) c.1052G>T c.1269G>T c.3238G>T (p.Gly1080Cys) n.197G>T | |
| 12 | g.51769169G>A | CA384892998 | SCN8A | c.3206G>A (p.Gly1069Asp) c.1053G>A c.1270G>A c.3239G>A (p.Gly1080Asp) n.198G>A | ClinVar dbSNP |
| 12 | g.51769169G>C | CA384893000 | SCN8A | c.3206G>C (p.Gly1069Ala) c.1053G>C c.1270G>C c.3239G>C (p.Gly1080Ala) n.198G>C | |
| 12 | g.51769169G>T | CA384893002 | SCN8A | c.3206G>T (p.Gly1069Val) c.1053G>T c.1270G>T c.3239G>T (p.Gly1080Val) n.198G>T | ClinVar |
| 12 | g.51769170C>A | CA480061257 | SCN8A | c.3207C>A (p.Gly1069=) c.1054C>A c.1271C>A c.3240C>A (p.Gly1080=) n.199C>A | gnomAD v4 |
| 12 | g.51769170C>G | CA480061258 | SCN8A | c.3207C>G (p.Gly1069=) c.1054C>G c.1271C>G c.3240C>G (p.Gly1080=) n.199C>G | |
| 12 | g.51769170C>T | CA480061259 | SCN8A | c.3207C>T (p.Gly1069=) c.1054C>T c.1271C>T c.3240C>T (p.Gly1080=) n.199C>T | |
| 12 | g.51769171A>C | CA384893005 | SCN8A | c.3208A>C (p.Ile1070Leu) c.1055A>C c.1272A>C c.3241A>C (p.Ile1081Leu) n.200A>C | |
| 12 | g.51769171A>G | CA384893007 | SCN8A | c.3208A>G (p.Ile1070Val) c.1055A>G c.1272A>G c.3241A>G (p.Ile1081Val) n.200A>G | gnomAD v4 |
| 12 | g.51769171A>T | CA384893009 | SCN8A | c.3208A>T (p.Ile1070Phe) c.1055A>T c.1272A>T c.3241A>T (p.Ile1081Phe) n.200A>T | |
| 12 | g.51769172T>A | CA384893012 | SCN8A | c.3209T>A (p.Ile1070Asn) c.1056T>A c.1273T>A c.3242T>A (p.Ile1081Asn) n.201T>A | |
| 12 | g.51769172T>C | CA384893014 | SCN8A | c.3209T>C (p.Ile1070Thr) c.1056T>C c.1273T>C c.3242T>C (p.Ile1081Thr) n.201T>C | |
| 12 | g.51769172T>G | CA384893017 | SCN8A | c.3209T>G (p.Ile1070Ser) c.1056T>G c.1273T>G c.3242T>G (p.Ile1081Ser) n.201T>G | |
| 12 | g.51769173T>A | CA480061260 | SCN8A | c.3210T>A (p.Ile1070=) c.1057T>A c.1274T>A c.3243T>A (p.Ile1081=) n.202T>A | |
| 12 | g.51769173T>C | CA6571559 | SCN8A | c.3210T>C (p.Ile1070=) c.1057T>C c.1274T>C c.3243T>C (p.Ile1081=) n.202T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51769173T>G | CA384893020 | SCN8A | c.3210T>G (p.Ile1070Met) c.1057T>G c.1274T>G c.3243T>G (p.Ile1081Met) n.202T>G | |
| 12 | g.51769173T= | CA2036188394 | SCN8A | c.3210T= (p.Ile1070=) c.1057T= c.1274T= c.3243T= (p.Ile1081=) n.202T= | |
| 12 | g.51769174G>A | CA384893023 | SCN8A | c.3211G>A (p.Gly1071Ser) c.1058G>A c.1275G>A c.3244G>A (p.Gly1082Ser) n.203G>A | gnomAD v4 |
| 12 | g.51769174G>C | CA384893027 | SCN8A | c.3211G>C (p.Gly1071Arg) c.1058G>C c.1275G>C c.3244G>C (p.Gly1082Arg) n.203G>C | |
| 12 | g.51769174G>T | CA384893025 | SCN8A | c.3211G>T (p.Gly1071Cys) c.1058G>T c.1275G>T c.3244G>T (p.Gly1082Cys) n.203G>T | |
| 12 | g.51769175G>A | CA384893028 | SCN8A | c.3212G>A (p.Gly1071Asp) c.1059G>A c.1276G>A c.3245G>A (p.Gly1082Asp) n.204G>A | |
| 12 | g.51769175G>C | CA384893030 | SCN8A | c.3212G>C (p.Gly1071Ala) c.1059G>C c.1276G>C c.3245G>C (p.Gly1082Ala) n.204G>C | |
| 12 | g.51769175G>T | CA384893033 | SCN8A | c.3212G>T (p.Gly1071Val) c.1059G>T c.1276G>T c.3245G>T (p.Gly1082Val) n.204G>T | |
| 12 | g.51769180_51769182del | CA2618842074 | SCN8A | c.3217_3219del (p.Ser1073del) c.1064_1066del c.1281_1283del c.3250_3252del (p.Ser1084del) n.209_211del | gnomAD v4 |
| 12 | g.51769176C>A | CA480061261 | SCN8A | c.3213C>A (p.Gly1071=) c.1060C>A c.1277C>A c.3246C>A (p.Gly1082=) n.205C>A | COSMIC COSMIC |
| 12 | g.51769176C= | CA2036188401 | SCN8A | c.3213C= (p.Gly1071=) c.1060C= c.1277C= c.3246C= (p.Gly1082=) n.205C= | |
| 12 | g.51769176C>G | CA480061262 | SCN8A | c.3213C>G (p.Gly1071=) c.1060C>G c.1277C>G c.3246C>G (p.Gly1082=) n.205C>G | |
| 12 | g.51769176C>T | CA480061263 | SCN8A | c.3213C>T (p.Gly1071=) c.1060C>T c.1277C>T c.3246C>T (p.Gly1082=) n.205C>T | dbSNP gnomAD v4 |
| 12 | g.51769177A>C | CA384893035 | SCN8A | c.3214A>C (p.Ser1072Arg) c.1061A>C c.1278A>C c.3247A>C (p.Ser1083Arg) n.206A>C | |
| 12 | g.51769177A>G | CA384893038 | SCN8A | c.3214A>G (p.Ser1072Gly) c.1061A>G c.1278A>G c.3247A>G (p.Ser1083Gly) n.206A>G | |
| 12 | g.51769177A>T | CA384893040 | SCN8A | c.3214A>T (p.Ser1072Cys) c.1061A>T c.1278A>T c.3247A>T (p.Ser1083Cys) n.206A>T | |
| 12 | g.51769178G>A | CA384893043 | SCN8A | c.3215G>A (p.Ser1072Asn) c.1062G>A c.1279G>A c.3248G>A (p.Ser1083Asn) n.207G>A | gnomAD v4 |
| 12 | g.51769178G>C | CA384893045 | SCN8A | c.3215G>C (p.Ser1072Thr) c.1062G>C c.1279G>C c.3248G>C (p.Ser1083Thr) n.207G>C | |
| 12 | g.51769178G>T | CA384893047 | SCN8A | c.3215G>T (p.Ser1072Ile) c.1062G>T c.1279G>T c.3248G>T (p.Ser1083Ile) n.207G>T | |
| 12 | g.51769179C>A | CA384893048 | SCN8A | c.3216C>A (p.Ser1072Arg) c.1063C>A c.1280C>A c.3249C>A (p.Ser1083Arg) n.208C>A | |
| 12 | g.51769179C>G | CA384893050 | SCN8A | c.3216C>G (p.Ser1072Arg) c.1063C>G c.1280C>G c.3249C>G (p.Ser1083Arg) n.208C>G | |
| 12 | g.51769179C>T | CA480061264 | SCN8A | c.3216C>T (p.Ser1072=) c.1063C>T c.1280C>T c.3249C>T (p.Ser1083=) n.208C>T | |
| 12 | g.51769180A>C | CA384893054 | SCN8A | c.3217A>C (p.Ser1073Arg) c.1064A>C c.1281A>C c.3250A>C (p.Ser1084Arg) n.209A>C | |
| 12 | g.51769180A>G | CA384893053 | SCN8A | c.3217A>G (p.Ser1073Gly) c.1064A>G c.1281A>G c.3250A>G (p.Ser1084Gly) n.209A>G | |
| 12 | g.51769180A>T | CA384893052 | SCN8A | c.3217A>T (p.Ser1073Cys) c.1064A>T c.1281A>T c.3250A>T (p.Ser1084Cys) n.209A>T | |
| 12 | g.51769181G>A | CA384893055 | SCN8A | c.3218G>A (p.Ser1073Asn) c.1065G>A c.1282G>A c.3251G>A (p.Ser1084Asn) n.210G>A | |
| 12 | g.51769181G>C | CA384893056 | SCN8A | c.3218G>C (p.Ser1073Thr) c.1065G>C c.1282G>C c.3251G>C (p.Ser1084Thr) n.210G>C | |
| 12 | g.51769181G>T | CA384893059 | SCN8A | c.3218G>T (p.Ser1073Ile) c.1065G>T c.1282G>T c.3251G>T (p.Ser1084Ile) n.210G>T | gnomAD v4 |
| 12 | g.51769182C>A | CA384893062 | SCN8A | c.3219C>A (p.Ser1073Arg) c.1066C>A c.1283C>A c.3252C>A (p.Ser1084Arg) n.211C>A | |
| 12 | g.51769182C= | CA2036188405 | SCN8A | c.3219C= (p.Ser1073=) c.1066C= c.1283C= c.3252C= (p.Ser1084=) n.211C= | |
| 12 | g.51769182C>G | CA384893064 | SCN8A | c.3219C>G (p.Ser1073Arg) c.1066C>G c.1283C>G c.3252C>G (p.Ser1084Arg) n.211C>G | |
| 12 | g.51769182C>T | CA6571560 | SCN8A | c.3219C>T (p.Ser1073=) c.1066C>T c.1283C>T c.3252C>T (p.Ser1084=) n.211C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769183G>A | CA6571561 | SCN8A | c.3220G>A (p.Val1074Met) c.1067G>A c.1284G>A c.3253G>A (p.Val1085Met) n.212G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51769183G>C | CA384893069 | SCN8A | c.3220G>C (p.Val1074Leu) c.1067G>C c.1284G>C c.3253G>C (p.Val1085Leu) n.212G>C | |
| 12 | g.51769183G= | CA2036188410 | SCN8A | c.3220G= (p.Val1074=) c.1067G= c.1284G= c.3253G= (p.Val1085=) n.212G= | |
| 12 | g.51769183G>T | CA384893071 | SCN8A | c.3220G>T (p.Val1074Leu) c.1067G>T c.1284G>T c.3253G>T (p.Val1085Leu) n.212G>T | dbSNP |
| 12 | g.51769184T>A | CA384893074 | SCN8A | c.3221T>A (p.Val1074Glu) c.1068T>A c.1285T>A c.3254T>A (p.Val1085Glu) n.213T>A | |
| 12 | g.51769184T>C | CA384893076 | SCN8A | c.3221T>C (p.Val1074Ala) c.1068T>C c.1285T>C c.3254T>C (p.Val1085Ala) n.213T>C | |
| 12 | g.51769184T>G | CA384893081 | SCN8A | c.3221T>G (p.Val1074Gly) c.1068T>G c.1285T>G c.3254T>G (p.Val1085Gly) n.213T>G | |
| 12 | g.51769184T= | CA2036188417 | SCN8A | c.3221T= (p.Val1074=) c.1068T= c.1285T= c.3254T= (p.Val1085=) n.213T= | |
| 12 | g.51769185G>A | CA480061265 | SCN8A | c.3222G>A (p.Val1074=) c.1069G>A c.1286G>A c.3255G>A (p.Val1085=) n.214G>A | |
| 12 | g.51769185G>C | CA480061267 | SCN8A | c.3222G>C (p.Val1074=) c.1069G>C c.1286G>C c.3255G>C (p.Val1085=) n.214G>C | |
| 12 | g.51769185G>T | CA480061266 | SCN8A | c.3222G>T (p.Val1074=) c.1069G>T c.1286G>T c.3255G>T (p.Val1085=) n.214G>T | |
| 12 | g.51769188_51769208dup | CA605238528 | SCN8A | c.3225_3245dup (p.Glu1081_Asp1082insGluLysTyrIleIleAspGlu) c.1072_1092dup c.1289_1309dup c.3258_3278dup (p.Glu1092_Asp1093insGluLysTyrIleIleAspGlu) n.217_237dup | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51769186G>A | CA384893087 | SCN8A | c.3223G>A (p.Glu1075Lys) c.1070G>A c.1287G>A c.3256G>A (p.Glu1086Lys) n.215G>A | gnomAD v4 |
| 12 | g.51769186G>C | CA384893086 | SCN8A | c.3223G>C (p.Glu1075Gln) c.1070G>C c.1287G>C c.3256G>C (p.Glu1086Gln) n.215G>C | |
| 12 | g.51769186G= | CA2036188423 | SCN8A | c.3223G= (p.Glu1075=) c.1070G= c.1287G= c.3256G= (p.Glu1086=) n.215G= | |
| 12 | g.51769186G>T | CA384893084 | SCN8A | c.3223G>T (p.Glu1075Ter) c.1070G>T c.1287G>T c.3256G>T (p.Glu1086Ter) n.215G>T | dbSNP |
| 12 | g.51769187A>C | CA384893088 | SCN8A | c.3224A>C (p.Glu1075Ala) c.1071A>C c.1288A>C c.3257A>C (p.Glu1086Ala) n.216A>C | |
| 12 | g.51769187A>G | CA384893089 | SCN8A | c.3224A>G (p.Glu1075Gly) c.1071A>G c.1288A>G c.3257A>G (p.Glu1086Gly) n.216A>G | COSMIC COSMIC |
| 12 | g.51769187A>T | CA384893091 | SCN8A | c.3224A>T (p.Glu1075Val) c.1071A>T c.1288A>T c.3257A>T (p.Glu1086Val) n.216A>T | |
| 12 | g.51769188G>A | CA480061268 | SCN8A | c.3225G>A (p.Glu1075=) c.1072G>A c.1289G>A c.3258G>A (p.Glu1086=) n.217G>A | |
| 12 | g.51769188G>C | CA384893093 | SCN8A | c.3225G>C (p.Glu1075Asp) c.1072G>C c.1289G>C c.3258G>C (p.Glu1086Asp) n.217G>C | |
| 12 | g.51769188G>T | CA384893095 | SCN8A | c.3225G>T (p.Glu1075Asp) c.1072G>T c.1289G>T c.3258G>T (p.Glu1086Asp) n.217G>T | |
| 12 | g.51769189A= | CA2036188431 | SCN8A | c.3226A= (p.Lys1076=) c.1073A= c.1290A= c.3259A= (p.Lys1087=) n.218A= | |
| 12 | g.51769189A>C | CA384893096 | SCN8A | c.3226A>C (p.Lys1076Gln) c.1073A>C c.1290A>C c.3259A>C (p.Lys1087Gln) n.218A>C | |
| 12 | g.51769189A>G | CA384893098 | SCN8A | c.3226A>G (p.Lys1076Glu) c.1073A>G c.1290A>G c.3259A>G (p.Lys1087Glu) n.218A>G | |
| 12 | g.51769189A>T | CA384893100 | SCN8A | c.3226A>T (p.Lys1076Ter) c.1073A>T c.1290A>T c.3259A>T (p.Lys1087Ter) n.218A>T | dbSNP |
| 12 | g.51769190A>C | CA384893101 | SCN8A | c.3227A>C (p.Lys1076Thr) c.1074A>C c.1291A>C c.3260A>C (p.Lys1087Thr) n.219A>C | |
| 12 | g.51769190A>G | CA384893102 | SCN8A | c.3227A>G (p.Lys1076Arg) c.1074A>G c.1291A>G c.3260A>G (p.Lys1087Arg) n.219A>G | |
| 12 | g.51769190A>T | CA384893103 | SCN8A | c.3227A>T (p.Lys1076Met) c.1074A>T c.1291A>T c.3260A>T (p.Lys1087Met) n.219A>T | |
| 12 | g.51769191G>A | CA480061269 | SCN8A | c.3228G>A (p.Lys1076=) c.1075G>A c.1292G>A c.3261G>A (p.Lys1087=) n.220G>A | |
| 12 | g.51769191G>C | CA384893105 | SCN8A | c.3228G>C (p.Lys1076Asn) c.1075G>C c.1292G>C c.3261G>C (p.Lys1087Asn) n.220G>C | |
| 12 | g.51769191G>T | CA384893106 | SCN8A | c.3228G>T (p.Lys1076Asn) c.1075G>T c.1292G>T c.3261G>T (p.Lys1087Asn) n.220G>T | |
| 12 | g.51769192T>A | CA384893111 | SCN8A | c.3229T>A (p.Tyr1077Asn) c.1076T>A c.1293T>A c.3262T>A (p.Tyr1088Asn) n.221T>A | |
| 12 | g.51769192T>C | CA384893107 | SCN8A | c.3229T>C (p.Tyr1077His) c.1076T>C c.1293T>C c.3262T>C (p.Tyr1088His) n.221T>C | ClinVar gnomAD v4 |
| 12 | g.51769192T>G | CA384893109 | SCN8A | c.3229T>G (p.Tyr1077Asp) c.1076T>G c.1293T>G c.3262T>G (p.Tyr1088Asp) n.221T>G | |
| 12 | g.51769193A= | CA2036188438 | SCN8A | c.3230A= (p.Tyr1077=) c.1077A= c.1294A= c.3263A= (p.Tyr1088=) n.222A= | |
| 12 | g.51769193A>C | CA384893112 | SCN8A | c.3230A>C (p.Tyr1077Ser) c.1077A>C c.1294A>C c.3263A>C (p.Tyr1088Ser) n.222A>C | |
| 12 | g.51769193A>G | CA6571562 | SCN8A | c.3230A>G (p.Tyr1077Cys) c.1077A>G c.1294A>G c.3263A>G (p.Tyr1088Cys) n.222A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769193A>T | CA384893113 | SCN8A | c.3230A>T (p.Tyr1077Phe) c.1077A>T c.1294A>T c.3263A>T (p.Tyr1088Phe) n.222A>T | |
| 12 | g.51769194C>A | CA384893114 | SCN8A | c.3231C>A (p.Tyr1077Ter) c.1078C>A c.1295C>A c.3264C>A (p.Tyr1088Ter) n.223C>A | |
| 12 | g.51769194C>G | CA384893116 | SCN8A | c.3231C>G (p.Tyr1077Ter) c.1078C>G c.1295C>G c.3264C>G (p.Tyr1088Ter) n.223C>G | |
| 12 | g.51769194C>T | CA480061270 | SCN8A | c.3231C>T (p.Tyr1077=) c.1078C>T c.1295C>T c.3264C>T (p.Tyr1088=) n.223C>T | gnomAD v4 |
| 12 | g.51769195A>C | CA384893125 | SCN8A | c.3232A>C (p.Ile1078Leu) c.1079A>C c.1296A>C c.3265A>C (p.Ile1089Leu) n.224A>C | |
| 12 | g.51769195A>G | CA384893127 | SCN8A | c.3232A>G (p.Ile1078Val) c.1079A>G c.1296A>G c.3265A>G (p.Ile1089Val) n.224A>G | gnomAD v4 |
| 12 | g.51769195A>T | CA384893128 | SCN8A | c.3232A>T (p.Ile1078Phe) c.1079A>T c.1296A>T c.3265A>T (p.Ile1089Phe) n.224A>T | |
| 12 | g.51769196T>A | CA384893129 | SCN8A | c.3233T>A (p.Ile1078Asn) c.1080T>A c.1297T>A c.3266T>A (p.Ile1089Asn) n.225T>A | |
| 12 | g.51769196T>C | CA384893130 | SCN8A | c.3233T>C (p.Ile1078Thr) c.1080T>C c.1297T>C c.3266T>C (p.Ile1089Thr) n.225T>C | |
| 12 | g.51769196T>G | CA384893131 | SCN8A | c.3233T>G (p.Ile1078Ser) c.1080T>G c.1297T>G c.3266T>G (p.Ile1089Ser) n.225T>G | |
| 12 | g.51769197C>A | CA480061271 | SCN8A | c.3234C>A (p.Ile1078=) c.1081C>A c.1298C>A c.3267C>A (p.Ile1089=) n.226C>A | |
| 12 | g.51769197C>G | CA384893132 | SCN8A | c.3234C>G (p.Ile1078Met) c.1081C>G c.1298C>G c.3267C>G (p.Ile1089Met) n.226C>G | |
| 12 | g.51769197C>T | CA480061272 | SCN8A | c.3234C>T (p.Ile1078=) c.1081C>T c.1298C>T c.3267C>T (p.Ile1089=) n.226C>T | |
| 12 | g.51769198A= | CA2036188444 | SCN8A | c.3235A= (p.Ile1079=) c.1082A= c.1299A= c.3268A= (p.Ile1090=) n.227A= | |
| 12 | g.51769198A>C | CA384893135 | SCN8A | c.3235A>C (p.Ile1079Leu) c.1082A>C c.1299A>C c.3268A>C (p.Ile1090Leu) n.227A>C | |
| 12 | g.51769198A>G | CA6571563 | SCN8A | c.3235A>G (p.Ile1079Val) c.1082A>G c.1299A>G c.3268A>G (p.Ile1090Val) n.227A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.51769198A>T | CA384893136 | SCN8A | c.3235A>T (p.Ile1079Phe) c.1082A>T c.1299A>T c.3268A>T (p.Ile1090Phe) n.227A>T | |
| 12 | g.51769199T>A | CA384893139 | SCN8A | c.3236T>A (p.Ile1079Asn) c.1083T>A c.1300T>A c.3269T>A (p.Ile1090Asn) n.228T>A | |
| 12 | g.51769199T>C | CA384893141 | SCN8A | c.3236T>C (p.Ile1079Thr) c.1083T>C c.1300T>C c.3269T>C (p.Ile1090Thr) n.228T>C | dbSNP gnomAD v4 |
| 12 | g.51769199T>G | CA384893140 | SCN8A | c.3236T>G (p.Ile1079Ser) c.1083T>G c.1300T>G c.3269T>G (p.Ile1090Ser) n.228T>G | |
| 12 | g.51769199T= | CA2036188452 | SCN8A | c.3236T= (p.Ile1079=) c.1083T= c.1300T= c.3269T= (p.Ile1090=) n.228T= | |
| 12 | g.51769200T>A | CA480061290 | SCN8A | c.3237T>A (p.Ile1079=) c.1084T>A c.1301T>A c.3270T>A (p.Ile1090=) n.229T>A | |
| 12 | g.51769200T>C | CA480061293 | SCN8A | c.3237T>C (p.Ile1079=) c.1084T>C c.1301T>C c.3270T>C (p.Ile1090=) n.229T>C | |
| 12 | g.51769200T>G | CA384893143 | SCN8A | c.3237T>G (p.Ile1079Met) c.1084T>G c.1301T>G c.3270T>G (p.Ile1090Met) n.229T>G | |
| 12 | g.51769201G>A | CA384893146 | SCN8A | c.3238G>A (p.Asp1080Asn) c.1085G>A c.1302G>A c.3271G>A (p.Asp1091Asn) n.230G>A | |
| 12 | g.51769201G>C | CA384893149 | SCN8A | c.3238G>C (p.Asp1080His) c.1085G>C c.1302G>C c.3271G>C (p.Asp1091His) n.230G>C | |
| 12 | g.51769201G>T | CA384893150 | SCN8A | c.3238G>T (p.Asp1080Tyr) c.1085G>T c.1302G>T c.3271G>T (p.Asp1091Tyr) n.230G>T | |
| 12 | g.51769202A>C | CA384893151 | SCN8A | c.3239A>C (p.Asp1080Ala) c.1086A>C c.1303A>C c.3272A>C (p.Asp1091Ala) n.231A>C | |
| 12 | g.51769202A>G | CA384893152 | SCN8A | c.3239A>G (p.Asp1080Gly) c.1086A>G c.1303A>G c.3272A>G (p.Asp1091Gly) n.231A>G | ClinVar |
| 12 | g.51769202A>T | CA384893153 | SCN8A | c.3239A>T (p.Asp1080Val) c.1086A>T c.1303A>T c.3272A>T (p.Asp1091Val) n.231A>T | |
| 12 | g.51769203T>A | CA384893154 | SCN8A | c.3240T>A (p.Asp1080Glu) c.1087T>A c.1304T>A c.3273T>A (p.Asp1091Glu) n.232T>A | ClinVar |
| 12 | g.51769203T>C | CA480061298 | SCN8A | c.3240T>C (p.Asp1080=) c.1087T>C c.1304T>C c.3273T>C (p.Asp1091=) n.232T>C | |
| 12 | g.51769203T>G | CA384893156 | SCN8A | c.3240T>G (p.Asp1080Glu) c.1087T>G c.1304T>G c.3273T>G (p.Asp1091Glu) n.232T>G | |
| 12 | g.51769204G>A | CA384893161 | SCN8A | c.3241G>A (p.Glu1081Lys) c.1088G>A c.1305G>A c.3274G>A (p.Glu1092Lys) n.233G>A | |
| 12 | g.51769204G>C | CA384893162 | SCN8A | c.3241G>C (p.Glu1081Gln) c.1088G>C c.1305G>C c.3274G>C (p.Glu1092Gln) n.233G>C | |
| 12 | g.51769204G= | CA2036188456 | SCN8A | c.3241G= (p.Glu1081=) c.1088G= c.1305G= c.3274G= (p.Glu1092=) n.233G= | |
| 12 | g.51769204G>T | CA384893163 | SCN8A | c.3241G>T (p.Glu1081Ter) c.1088G>T c.1305G>T c.3274G>T (p.Glu1092Ter) n.233G>T | dbSNP COSMIC COSMIC |
| 12 | g.51769205A>C | CA384893172 | SCN8A | c.3242A>C (p.Glu1081Ala) c.1089A>C c.1306A>C c.3275A>C (p.Glu1092Ala) n.234A>C | |
| 12 | g.51769205A>G | CA384893166 | SCN8A | c.3242A>G (p.Glu1081Gly) c.1089A>G c.1306A>G c.3275A>G (p.Glu1092Gly) n.234A>G | |
| 12 | g.51769205A>T | CA384893164 | SCN8A | c.3242A>T (p.Glu1081Val) c.1089A>T c.1306A>T c.3275A>T (p.Glu1092Val) n.234A>T | |
| 12 | g.51769206G>A | CA480061304 | SCN8A | c.3243G>A (p.Glu1081=) c.1090G>A c.1307G>A c.3276G>A (p.Glu1092=) n.235G>A | |
| 12 | g.51769206G>C | CA384893185 | SCN8A | c.3243G>C (p.Glu1081Asp) c.1090G>C c.1307G>C c.3276G>C (p.Glu1092Asp) n.235G>C | |
| 12 | g.51769206G>T | CA384893186 | SCN8A | c.3243G>T (p.Glu1081Asp) c.1090G>T c.1307G>T c.3276G>T (p.Glu1092Asp) n.235G>T | |
| 12 | g.51769207G>A | CA384893191 | SCN8A | c.3244G>A (p.Asp1082Asn) c.1091G>A c.1308G>A c.3277G>A (p.Asp1093Asn) n.236G>A | |
| 12 | g.51769207G>C | CA384893194 | SCN8A | c.3244G>C (p.Asp1082His) c.1091G>C c.1308G>C c.3277G>C (p.Asp1093His) n.236G>C | |
| 12 | g.51769207G>T | CA384893195 | SCN8A | c.3244G>T (p.Asp1082Tyr) c.1091G>T c.1308G>T c.3277G>T (p.Asp1093Tyr) n.236G>T | ClinVar |
| 12 | g.51769208A>C | CA384893196 | SCN8A | c.3245A>C (p.Asp1082Ala) c.1092A>C c.1309A>C c.3278A>C (p.Asp1093Ala) n.237A>C | |
| 12 | g.51769208A>G | CA384893197 | SCN8A | c.3245A>G (p.Asp1082Gly) c.1092A>G c.1309A>G c.3278A>G (p.Asp1093Gly) n.237A>G | |
| 12 | g.51769208A>T | CA384893199 | SCN8A | c.3245A>T (p.Asp1082Val) c.1092A>T c.1309A>T c.3278A>T (p.Asp1093Val) n.237A>T | ClinVar dbSNP |
| 12 | g.51769209C>A | CA6571564 | SCN8A | c.3246C>A (p.Asp1082Glu) c.1093C>A c.1310C>A c.3279C>A (p.Asp1093Glu) n.238C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51769209C= | CA2036188458 | SCN8A | c.3246C= (p.Asp1082=) c.1093C= c.1310C= c.3279C= (p.Asp1093=) n.238C= | |
| 12 | g.51769209C>G | CA384893204 | SCN8A | c.3246C>G (p.Asp1082Glu) c.1093C>G c.1310C>G c.3279C>G (p.Asp1093Glu) n.238C>G | |
| 12 | g.51769209C>T | CA480061308 | SCN8A | c.3246C>T (p.Asp1082=) c.1093C>T c.1310C>T c.3279C>T (p.Asp1093=) n.238C>T | |
| 12 | g.51769210C>A | CA384893207 | SCN8A | c.3247C>A (p.His1083Asn) c.1094C>A c.1311C>A c.3280C>A (p.His1094Asn) n.239C>A | |
| 12 | g.51769210C>G | CA384893209 | SCN8A | c.3247C>G (p.His1083Asp) c.1094C>G c.1311C>G c.3280C>G (p.His1094Asp) n.239C>G | |
| 12 | g.51769210C>T | CA384893212 | SCN8A | c.3247C>T (p.His1083Tyr) c.1094C>T c.1311C>T c.3280C>T (p.His1094Tyr) n.239C>T | gnomAD v4 |
| 12 | g.51769211A>C | CA384893216 | SCN8A | c.3248A>C (p.His1083Pro) c.1095A>C c.1312A>C c.3281A>C (p.His1094Pro) n.240A>C | |
| 12 | g.51769211A>G | CA384893217 | SCN8A | c.3248A>G (p.His1083Arg) c.1095A>G c.1312A>G c.3281A>G (p.His1094Arg) n.240A>G | |
| 12 | g.51769211A>T | CA384893215 | SCN8A | c.3248A>T (p.His1083Leu) c.1095A>T c.1312A>T c.3281A>T (p.His1094Leu) n.240A>T | |
| 12 | g.51769212C>A | CA384893218 | SCN8A | c.3249C>A (p.His1083Gln) c.1096C>A c.1313C>A c.3282C>A (p.His1094Gln) n.241C>A | |
| 12 | g.51769212C>G | CA384893219 | SCN8A | c.3249C>G (p.His1083Gln) c.1096C>G c.1313C>G c.3282C>G (p.His1094Gln) n.241C>G | |
| 12 | g.51769212C>T | CA480061313 | SCN8A | c.3249C>T (p.His1083=) c.1096C>T c.1313C>T c.3282C>T (p.His1094=) n.241C>T | |
| 12 | g.51769213A>C | CA384893220 | SCN8A | c.3250A>C (p.Met1084Leu) c.1097A>C c.1314A>C c.3283A>C (p.Met1095Leu) n.242A>C | |
| 12 | g.51769213A>G | CA384893222 | SCN8A | c.3250A>G (p.Met1084Val) c.1097A>G c.1314A>G c.3283A>G (p.Met1095Val) n.242A>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.51769213A>T | CA384893225 | SCN8A | c.3250A>T (p.Met1084Leu) c.1097A>T c.1314A>T c.3283A>T (p.Met1095Leu) n.242A>T | gnomAD v4 |
| 12 | g.51769214T>A | CA384893226 | SCN8A | c.3251T>A (p.Met1084Lys) c.1098T>A c.1315T>A c.3284T>A (p.Met1095Lys) n.243T>A | |
| 12 | g.51769214T>C | CA384893227 | SCN8A | c.3251T>C (p.Met1084Thr) c.1098T>C c.1315T>C c.3284T>C (p.Met1095Thr) n.243T>C | |
| 12 | g.51769214T>G | CA384893228 | SCN8A | c.3251T>G (p.Met1084Arg) c.1098T>G c.1315T>G c.3284T>G (p.Met1095Arg) n.243T>G | |
| 12 | g.51769215_51769220del | CA2618840719 | SCN8A | c.3252_3257del (p.Met1084_Phe1086delinsIle) c.1099_1104del c.1316_1321del c.3285_3290del (p.Met1095_Phe1097delinsIle) n.244_249del | gnomAD v4 |
| 12 | g.51769215G>A | CA384893234 | SCN8A | c.3252G>A (p.Met1084Ile) c.1099G>A c.1316G>A c.3285G>A (p.Met1095Ile) n.244G>A | |
| 12 | g.51769215G>C | CA384893235 | SCN8A | c.3252G>C (p.Met1084Ile) c.1099G>C c.1316G>C c.3285G>C (p.Met1095Ile) n.244G>C | |
| 12 | g.51769215G>T | CA384893237 | SCN8A | c.3252G>T (p.Met1084Ile) c.1099G>T c.1316G>T c.3285G>T (p.Met1095Ile) n.244G>T | |
| 12 | g.51769216T>A | CA384893242 | SCN8A | c.3253T>A (p.Ser1085Thr) c.1100T>A c.1317T>A c.3286T>A (p.Ser1096Thr) n.245T>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51769216T>C | CA384893239 | SCN8A | c.3253T>C (p.Ser1085Pro) c.1100T>C c.1317T>C c.3286T>C (p.Ser1096Pro) n.245T>C | |
| 12 | g.51769216T>G | CA384893241 | SCN8A | c.3253T>G (p.Ser1085Ala) c.1100T>G c.1317T>G c.3286T>G (p.Ser1096Ala) n.245T>G | |
| 12 | g.51769216T= | CA2036188461 | SCN8A | c.3253T= (p.Ser1085=) c.1100T= c.1317T= c.3286T= (p.Ser1096=) n.245T= | |
| 12 | g.51769217C>A | CA384893243 | SCN8A | c.3254C>A (p.Ser1085Tyr) c.1101C>A c.1318C>A c.3287C>A (p.Ser1096Tyr) n.246C>A | |
| 12 | g.51769217C= | CA2036188466 | SCN8A | c.3254C= (p.Ser1085=) c.1101C= c.1318C= c.3287C= (p.Ser1096=) n.246C= | |
| 12 | g.51769217C>G | CA384893245 | SCN8A | c.3254C>G (p.Ser1085Cys) c.1101C>G c.1318C>G c.3287C>G (p.Ser1096Cys) n.246C>G | |
| 12 | g.51769217C>T | CA384893246 | SCN8A | c.3254C>T (p.Ser1085Phe) c.1101C>T c.1318C>T c.3287C>T (p.Ser1096Phe) n.246C>T | dbSNP gnomAD v4 |
| 12 | g.51769218C>A | CA480061324 | SCN8A | c.3255C>A (p.Ser1085=) c.1102C>A c.1319C>A c.3288C>A (p.Ser1096=) n.247C>A | gnomAD v4 |
| 12 | g.51769218C>G | CA480061325 | SCN8A | c.3255C>G (p.Ser1085=) c.1102C>G c.1319C>G c.3288C>G (p.Ser1096=) n.247C>G | |
| 12 | g.51769218C>T | CA480061326 | SCN8A | c.3255C>T (p.Ser1085=) c.1102C>T c.1319C>T c.3288C>T (p.Ser1096=) n.247C>T | |
| 12 | g.51769219T>A | CA384893247 | SCN8A | c.3256T>A (p.Phe1086Ile) c.1103T>A c.1320T>A c.3289T>A (p.Phe1097Ile) n.248T>A | |
| 12 | g.51769219T>C | CA384893248 | SCN8A | c.3256T>C (p.Phe1086Leu) c.1103T>C c.1320T>C c.3289T>C (p.Phe1097Leu) n.248T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51769219T>G | CA384893249 | SCN8A | c.3256T>G (p.Phe1086Val) c.1103T>G c.1320T>G c.3289T>G (p.Phe1097Val) n.248T>G | |
| 12 | g.51769219T= | CA2036188472 | SCN8A | c.3256T= (p.Phe1086=) c.1103T= c.1320T= c.3289T= (p.Phe1097=) n.248T= | |
| 12 | g.51769220T>A | CA384893250 | SCN8A | c.3257T>A (p.Phe1086Tyr) c.1104T>A c.1321T>A c.3290T>A (p.Phe1097Tyr) n.249T>A | |
| 12 | g.51769220T>C | CA384893251 | SCN8A | c.3257T>C (p.Phe1086Ser) c.1104T>C c.1321T>C c.3290T>C (p.Phe1097Ser) n.249T>C | |
| 12 | g.51769220T>G | CA384893252 | SCN8A | c.3257T>G (p.Phe1086Cys) c.1104T>G c.1321T>G c.3290T>G (p.Phe1097Cys) n.249T>G | |
| 12 | g.51769221C>A | CA384893253 | SCN8A | c.3258C>A (p.Phe1086Leu) c.1105C>A c.1322C>A c.3291C>A (p.Phe1097Leu) n.250C>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51769221C= | CA2036188478 | SCN8A | c.3258C= (p.Phe1086=) c.1105C= c.1322C= c.3291C= (p.Phe1097=) n.250C= | |
| 12 | g.51769221C>G | CA384893254 | SCN8A | c.3258C>G (p.Phe1086Leu) c.1105C>G c.1322C>G c.3291C>G (p.Phe1097Leu) n.250C>G | |
| 12 | g.51769221C>T | CA480061330 | SCN8A | c.3258C>T (p.Phe1086=) c.1105C>T c.1322C>T c.3291C>T (p.Phe1097=) n.250C>T | gnomAD v4 |
| 12 | g.51769222A= | CA2036188483 | SCN8A | c.3259A= (p.Ile1087=) c.1106A= c.1323A= c.3292A= (p.Ile1098=) n.251A= | |
| 12 | g.51769222A>C | CA384893260 | SCN8A | c.3259A>C (p.Ile1087Leu) c.1106A>C c.1323A>C c.3292A>C (p.Ile1098Leu) n.251A>C | |
| 12 | g.51769222A>G | CA6571565 | SCN8A | c.3259A>G (p.Ile1087Val) c.1106A>G c.1323A>G c.3292A>G (p.Ile1098Val) n.251A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769222A>T | CA384893258 | SCN8A | c.3259A>T (p.Ile1087Phe) c.1106A>T c.1323A>T c.3292A>T (p.Ile1098Phe) n.251A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769223T>A | CA384893264 | SCN8A | c.3260T>A (p.Ile1087Asn) c.1107T>A c.1324T>A c.3293T>A (p.Ile1098Asn) n.252T>A | |
| 12 | g.51769223T>C | CA384893261 | SCN8A | c.3260T>C (p.Ile1087Thr) c.1107T>C c.1324T>C c.3293T>C (p.Ile1098Thr) n.252T>C | |
| 12 | g.51769223T>G | CA384893263 | SCN8A | c.3260T>G (p.Ile1087Ser) c.1107T>G c.1324T>G c.3293T>G (p.Ile1098Ser) n.252T>G | |
| 12 | g.51769224C>A | CA480061333 | SCN8A | c.3261C>A (p.Ile1087=) c.1108C>A c.1325C>A c.3294C>A (p.Ile1098=) n.253C>A | |
| 12 | g.51769224C>G | CA384893265 | SCN8A | c.3261C>G (p.Ile1087Met) c.1108C>G c.1325C>G c.3294C>G (p.Ile1098Met) n.253C>G | ClinVar dbSNP |
| 12 | g.51769224C>T | CA480061334 | SCN8A | c.3261C>T (p.Ile1087=) c.1108C>T c.1325C>T c.3294C>T (p.Ile1098=) n.253C>T | COSMIC COSMIC |
| 12 | g.51769225A= | CA2036188488 | SCN8A | c.3262A= (p.Asn1088=) c.1109A= c.1326A= c.3295A= (p.Asn1099=) n.254A= | |
| 12 | g.51769225A>C | CA384893267 | SCN8A | c.3262A>C (p.Asn1088His) c.1109A>C c.1326A>C c.3295A>C (p.Asn1099His) n.254A>C | |
| 12 | g.51769225A>G | CA384893271 | SCN8A | c.3262A>G (p.Asn1088Asp) c.1109A>G c.1326A>G c.3295A>G (p.Asn1099Asp) n.254A>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51769225A>T | CA384893273 | SCN8A | c.3262A>T (p.Asn1088Tyr) c.1109A>T c.1326A>T c.3295A>T (p.Asn1099Tyr) n.254A>T | |
| 12 | g.51769226A= | CA2036188493 | SCN8A | c.3263A= (p.Asn1088=) c.1110A= c.1327A= c.3296A= (p.Asn1099=) n.255A= | |
| 12 | g.51769226A>C | CA384893277 | SCN8A | c.3263A>C (p.Asn1088Thr) c.1110A>C c.1327A>C c.3296A>C (p.Asn1099Thr) n.255A>C | |
| 12 | g.51769226A>G | CA384893280 | SCN8A | c.3263A>G (p.Asn1088Ser) c.1110A>G c.1327A>G c.3296A>G (p.Asn1099Ser) n.255A>G | dbSNP |
| 12 | g.51769226A>T | CA384893281 | SCN8A | c.3263A>T (p.Asn1088Ile) c.1110A>T c.1327A>T c.3296A>T (p.Asn1099Ile) n.255A>T | |
| 12 | g.51769227C>A | CA384893286 | SCN8A | c.3264C>A (p.Asn1088Lys) c.1111C>A c.1328C>A c.3297C>A (p.Asn1099Lys) n.256C>A | |
| 12 | g.51769227C= | CA2036188496 | SCN8A | c.3264C= (p.Asn1088=) c.1111C= c.1328C= c.3297C= (p.Asn1099=) n.256C= | |
| 12 | g.51769227C>G | CA384893288 | SCN8A | c.3264C>G (p.Asn1088Lys) c.1111C>G c.1328C>G c.3297C>G (p.Asn1099Lys) n.256C>G | |
| 12 | g.51769227C>T | CA6571566 | SCN8A | c.3264C>T (p.Asn1088=) c.1111C>T c.1328C>T c.3297C>T (p.Asn1099=) n.256C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51769228A>C | CA384893291 | SCN8A | c.3265A>C (p.Asn1089His) c.1112A>C c.1329A>C c.3298A>C (p.Asn1100His) n.257A>C | |
| 12 | g.51769228A>G | CA384893289 | SCN8A | c.3265A>G (p.Asn1089Asp) c.1112A>G c.1329A>G c.3298A>G (p.Asn1100Asp) n.257A>G | |
| 12 | g.51769228A>T | CA384893290 | SCN8A | c.3265A>T (p.Asn1089Tyr) c.1112A>T c.1329A>T c.3298A>T (p.Asn1100Tyr) n.257A>T | |
| 12 | g.51769229A= | CA2036188499 | SCN8A | c.3266A= (p.Asn1089=) c.1113A= c.1330A= c.3299A= (p.Asn1100=) n.258A= | |
| 12 | g.51769229A>C | CA384893292 | SCN8A | c.3266A>C (p.Asn1089Thr) c.1113A>C c.1330A>C c.3299A>C (p.Asn1100Thr) n.258A>C | |
| 12 | g.51769229A>G | CA6571567 | SCN8A | c.3266A>G (p.Asn1089Ser) c.1113A>G c.1330A>G c.3299A>G (p.Asn1100Ser) n.258A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51769229A>T | CA384893293 | SCN8A | c.3266A>T (p.Asn1089Ile) c.1113A>T c.1330A>T c.3299A>T (p.Asn1100Ile) n.258A>T | |
| 12 | g.51769230C>A | CA6571568 | SCN8A | c.3267C>A (p.Asn1089Lys) c.1114C>A c.1331C>A c.3300C>A (p.Asn1100Lys) n.259C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51769230C= | CA2036188502 | SCN8A | c.3267C= (p.Asn1089=) c.1114C= c.1331C= c.3300C= (p.Asn1100=) n.259C= | |
| 12 | g.51769230C>G | CA384893294 | SCN8A | c.3267C>G (p.Asn1089Lys) c.1114C>G c.1331C>G c.3300C>G (p.Asn1100Lys) n.259C>G | |
| 12 | g.51769230C>T | CA480061339 | SCN8A | c.3267C>T (p.Asn1089=) c.1114C>T c.1331C>T c.3300C>T (p.Asn1100=) n.259C>T | ClinVar dbSNP |
| 12 | g.51769231C>A | CA384893295 | SCN8A | c.3268C>A (p.Pro1090Thr) c.1115C>A c.1332C>A c.3301C>A (p.Pro1101Thr) n.260C>A | gnomAD v4 |
| 12 | g.51769231C= | CA2036188508 | SCN8A | c.3268C= (p.Pro1090=) c.1115C= c.1332C= c.3301C= (p.Pro1101=) n.260C= | |
| 12 | g.51769231C>G | CA384893296 | SCN8A | c.3268C>G (p.Pro1090Ala) c.1115C>G c.1332C>G c.3301C>G (p.Pro1101Ala) n.260C>G | |
| 12 | g.51769231C>T | CA384893308 | SCN8A | c.3268C>T (p.Pro1090Ser) c.1115C>T c.1332C>T c.3301C>T (p.Pro1101Ser) n.260C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.51769232C>A | CA384893312 | SCN8A | c.3269C>A (p.Pro1090His) c.1116C>A c.1333C>A c.3302C>A (p.Pro1101His) n.261C>A | |
| 12 | g.51769232C= | CA2036188514 | SCN8A | c.3269C= (p.Pro1090=) c.1116C= c.1333C= c.3302C= (p.Pro1101=) n.261C= | |
| 12 | g.51769232C>G | CA384893314 | SCN8A | c.3269C>G (p.Pro1090Arg) c.1116C>G c.1333C>G c.3302C>G (p.Pro1101Arg) n.261C>G | |
| 12 | g.51769232C>T | CA6571569 | SCN8A | c.3269C>T (p.Pro1090Leu) c.1116C>T c.1333C>T c.3302C>T (p.Pro1101Leu) n.261C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.51769233C>A | CA480061345 | SCN8A | c.3270C>A (p.Pro1090=) c.1117C>A c.1334C>A c.3303C>A (p.Pro1101=) n.262C>A | dbSNP |
| 12 | g.51769233C= | CA2036188518 | SCN8A | c.3270C= (p.Pro1090=) c.1117C= c.1334C= c.3303C= (p.Pro1101=) n.262C= | |
| 12 | g.51769233C>G | CA480061346 | SCN8A | c.3270C>G (p.Pro1090=) c.1117C>G c.1334C>G c.3303C>G (p.Pro1101=) n.262C>G | |
| 12 | g.51769233C>T | CA480061348 | SCN8A | c.3270C>T (p.Pro1090=) c.1117C>T c.1334C>T c.3303C>T (p.Pro1101=) n.262C>T | |
| 12 | g.51769234A= | CA2036188525 | SCN8A | c.3271A= (p.Asn1091=) c.1118A= c.1335A= c.3304A= (p.Asn1102=) n.263A= | |
| 12 | g.51769234A>C | CA384893320 | SCN8A | c.3271A>C (p.Asn1091His) c.1118A>C c.1335A>C c.3304A>C (p.Asn1102His) n.263A>C | |
| 12 | g.51769234A>G | CA384893322 | SCN8A | c.3271A>G (p.Asn1091Asp) c.1118A>G c.1335A>G c.3304A>G (p.Asn1102Asp) n.263A>G | |
| 12 | g.51769234A>T | CA384893318 | SCN8A | c.3271A>T (p.Asn1091Tyr) c.1118A>T c.1335A>T c.3304A>T (p.Asn1102Tyr) n.263A>T | dbSNP gnomAD v2 |
| 12 | g.51769235A= | CA2036188534 | SCN8A | c.3272A= (p.Asn1091=) c.1119A= c.1336A= c.3305A= (p.Asn1102=) n.264A= | |
| 12 | g.51769235A>C | CA6571571 | SCN8A | c.3272A>C (p.Asn1091Thr) c.1119A>C c.1336A>C c.3305A>C (p.Asn1102Thr) n.264A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769235A>G | CA6571570 | SCN8A | c.3272A>G (p.Asn1091Ser) c.1119A>G c.1336A>G c.3305A>G (p.Asn1102Ser) n.264A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769235A>T | CA384893329 | SCN8A | c.3272A>T (p.Asn1091Ile) c.1119A>T c.1336A>T c.3305A>T (p.Asn1102Ile) n.264A>T | |
| 12 | g.51769236C>A | CA384893333 | SCN8A | c.3273C>A (p.Asn1091Lys) c.1120C>A c.1337C>A c.3306C>A (p.Asn1102Lys) n.265C>A | |
| 12 | g.51769236C>G | CA384893336 | SCN8A | c.3273C>G (p.Asn1091Lys) c.1120C>G c.1337C>G c.3306C>G (p.Asn1102Lys) n.265C>G | |
| 12 | g.51769236C>T | CA480061350 | SCN8A | c.3273C>T (p.Asn1091=) c.1120C>T c.1337C>T c.3306C>T (p.Asn1102=) n.265C>T | |
| 12 | g.51769237T>A | CA384893337 | SCN8A | c.3274T>A (p.Leu1092Met) c.1121T>A c.1338T>A c.3307T>A (p.Leu1103Met) n.266T>A | ClinVar dbSNP |
| 12 | g.51769237T>C | CA480061353 | SCN8A | c.3274T>C (p.Leu1092=) c.1121T>C c.1338T>C c.3307T>C (p.Leu1103=) n.266T>C | |
| 12 | g.51769237T>G | CA384893338 | SCN8A | c.3274T>G (p.Leu1092Val) c.1121T>G c.1338T>G c.3307T>G (p.Leu1103Val) n.266T>G | |
| 12 | g.51769237T= | CA2036188540 | SCN8A | c.3274T= (p.Leu1092=) c.1121T= c.1338T= c.3307T= (p.Leu1103=) n.266T= | |
| 12 | g.51769238T>A | CA384893341 | SCN8A | c.3275T>A (p.Leu1092Ter) c.1122T>A c.1339T>A c.3308T>A (p.Leu1103Ter) n.267T>A | dbSNP |
| 12 | g.51769238T>C | CA384893344 | SCN8A | c.3275T>C (p.Leu1092Ser) c.1122T>C c.1339T>C c.3308T>C (p.Leu1103Ser) n.267T>C | |
| 12 | g.51769238T>G | CA384893346 | SCN8A | c.3275T>G (p.Leu1092Trp) c.1122T>G c.1339T>G c.3308T>G (p.Leu1103Trp) n.267T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51769238T= | CA2036188545 | SCN8A | c.3275T= (p.Leu1092=) c.1122T= c.1339T= c.3308T= (p.Leu1103=) n.267T= | |
| 12 | g.51769239G>A | CA480061356 | SCN8A | c.3276G>A (p.Leu1092=) c.1123G>A c.1340G>A c.3309G>A (p.Leu1103=) n.268G>A | |
| 12 | g.51769239G>C | CA384893349 | SCN8A | c.3276G>C (p.Leu1092Phe) c.1123G>C c.1340G>C c.3309G>C (p.Leu1103Phe) n.268G>C | |
| 12 | g.51769239G>T | CA384893355 | SCN8A | c.3276G>T (p.Leu1092Phe) c.1123G>T c.1340G>T c.3309G>T (p.Leu1103Phe) n.268G>T | |
| 12 | g.51769240A>C | CA384893360 | SCN8A | c.3277A>C (p.Thr1093Pro) c.1124A>C c.1341A>C c.3310A>C (p.Thr1104Pro) n.269A>C | |
| 12 | g.51769240A>G | CA384893361 | SCN8A | c.3277A>G (p.Thr1093Ala) c.1124A>G c.1341A>G c.3310A>G (p.Thr1104Ala) n.269A>G | |
| 12 | g.51769240A>T | CA384893359 | SCN8A | c.3277A>T (p.Thr1093Ser) c.1124A>T c.1341A>T c.3310A>T (p.Thr1104Ser) n.269A>T | |
| 12 | g.51769241C>A | CA384893364 | SCN8A | c.3278C>A (p.Thr1093Asn) c.1125C>A c.1342C>A c.3311C>A (p.Thr1104Asn) n.270C>A | |
| 12 | g.51769241C>G | CA384893368 | SCN8A | c.3278C>G (p.Thr1093Ser) c.1125C>G c.1342C>G c.3311C>G (p.Thr1104Ser) n.270C>G | |
| 12 | g.51769241C>T | CA384893370 | SCN8A | c.3278C>T (p.Thr1093Ile) c.1125C>T c.1342C>T c.3311C>T (p.Thr1104Ile) n.270C>T | |
| 12 | g.51769242T>A | CA480061361 | SCN8A | c.3279T>A (p.Thr1093=) c.1126T>A c.1343T>A c.3312T>A (p.Thr1104=) n.271T>A | |
| 12 | g.51769242T>C | CA480061362 | SCN8A | c.3279T>C (p.Thr1093=) c.1126T>C c.1343T>C c.3312T>C (p.Thr1104=) n.271T>C | |
| 12 | g.51769242T>G | CA480061363 | SCN8A | c.3279T>G (p.Thr1093=) c.1126T>G c.1343T>G c.3312T>G (p.Thr1104=) n.271T>G | |
| 12 | g.51769243G>A | CA6571572 | SCN8A | c.3280G>A (p.Val1094Ile) c.1127G>A c.1344G>A c.3313G>A (p.Val1105Ile) n.272G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769243G>C | CA384893386 | SCN8A | c.3280G>C (p.Val1094Leu) c.1127G>C c.1344G>C c.3313G>C (p.Val1105Leu) n.272G>C | |
| 12 | g.51769243G= | CA2036188551 | SCN8A | c.3280G= (p.Val1094=) c.1127G= c.1344G= c.3313G= (p.Val1105=) n.272G= | |
| 12 | g.51769243G>T | CA384893388 | SCN8A | c.3280G>T (p.Val1094Leu) c.1127G>T c.1344G>T c.3313G>T (p.Val1105Leu) n.272G>T | |
| 12 | g.51769244T>A | CA384893400 | SCN8A | c.3281T>A (p.Val1094Glu) c.1128T>A c.1345T>A c.3314T>A (p.Val1105Glu) n.273T>A | |
| 12 | g.51769244T>C | CA384893392 | SCN8A | c.3281T>C (p.Val1094Ala) c.1128T>C c.1345T>C c.3314T>C (p.Val1105Ala) n.273T>C | |
| 12 | g.51769244T>G | CA384893395 | SCN8A | c.3281T>G (p.Val1094Gly) c.1128T>G c.1345T>G c.3314T>G (p.Val1105Gly) n.273T>G | |
| 12 | g.51769245A>C | CA480061366 | SCN8A | c.3282A>C (p.Val1094=) c.1129A>C c.1346A>C c.3315A>C (p.Val1105=) n.274A>C | |
| 12 | g.51769245A>G | CA480061368 | SCN8A | c.3282A>G (p.Val1094=) c.1129A>G c.1346A>G c.3315A>G (p.Val1105=) n.274A>G | dbSNP |
| 12 | g.51769245A>T | CA480061370 | SCN8A | c.3282A>T (p.Val1094=) c.1129A>T c.1346A>T c.3315A>T (p.Val1105=) n.274A>T | |
| 12 | g.51769246C>A | CA480061371 | SCN8A | c.3283C>A (p.Arg1095=) c.1130C>A c.1347C>A c.3316C>A (p.Arg1106=) n.275C>A | gnomAD v3 gnomAD v4 |
| 12 | g.51769246C= | CA2036188557 | SCN8A | c.3283C= (p.Arg1095=) c.1130C= c.1347C= c.3316C= (p.Arg1106=) n.275C= | |
| 12 | g.51769246C>G | CA384893402 | SCN8A | c.3283C>G (p.Arg1095Gly) c.1130C>G c.1347C>G c.3316C>G (p.Arg1106Gly) n.275C>G | |
| 12 | g.51769246C>T | CA236318634 | SCN8A | c.3283C>T (p.Arg1095Trp) c.1130C>T c.1347C>T c.3316C>T (p.Arg1106Trp) n.275C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |