| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38872215A= | CA1358707889 | SCN11A | c.3473T= (p.Leu1158=) c.3527T= (n.3527T=) c.3293T= (p.Leu1098=) c.3517T= (n.3517T=) c.3092T= (p.Leu1031=) c.3359T= (p.Leu1120=) c.2810T= (p.Leu937=) c.2021T= (p.Leu674=) c.3848T= (p.Leu1283=) c.3275T= (p.Leu1092=) c.3200T= (p.Leu1067=) c.1877T= (p.Leu626=) | |
| 3 | g.38872215A>C | CA352171297 | SCN11A | c.3473T>G (p.Leu1158Arg) c.3527T>G (n.3527T>G) c.3293T>G (p.Leu1098Arg) c.3517T>G (n.3517T>G) c.3092T>G (p.Leu1031Arg) c.3359T>G (p.Leu1120Arg) c.2810T>G (p.Leu937Arg) c.2021T>G (p.Leu674Arg) c.3848T>G (p.Leu1283Arg) c.3275T>G (p.Leu1092Arg) c.3200T>G (p.Leu1067Arg) c.1877T>G (p.Leu626Arg) | |
| 3 | g.38872215A>G | CA171012 | SCN11A | c.3473T>C (p.Leu1158Pro) c.3527T>C (n.3527T>C) c.3293T>C (p.Leu1098Pro) c.3517T>C (n.3517T>C) c.3092T>C (p.Leu1031Pro) c.3359T>C (p.Leu1120Pro) c.2810T>C (p.Leu937Pro) c.2021T>C (p.Leu674Pro) c.3848T>C (p.Leu1283Pro) c.3275T>C (p.Leu1092Pro) c.3200T>C (p.Leu1067Pro) c.1877T>C (p.Leu626Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38872215A>T | CA352171298 | SCN11A | c.3473T>A (p.Leu1158Gln) c.3527T>A (n.3527T>A) c.3293T>A (p.Leu1098Gln) c.3517T>A (n.3517T>A) c.3092T>A (p.Leu1031Gln) c.3359T>A (p.Leu1120Gln) c.2810T>A (p.Leu937Gln) c.2021T>A (p.Leu674Gln) c.3848T>A (p.Leu1283Gln) c.3275T>A (p.Leu1092Gln) c.3200T>A (p.Leu1067Gln) c.1877T>A (p.Leu626Gln) | |
| 3 | g.38872216G>A | CA433142050 | SCN11A | c.3472C>T (p.Leu1158=) c.3526C>T (n.3526C>T) c.3292C>T (p.Leu1098=) c.3516C>T (n.3516C>T) c.3091C>T (p.Leu1031=) c.3358C>T (p.Leu1120=) c.2809C>T (p.Leu937=) c.2020C>T (p.Leu674=) c.3847C>T (p.Leu1283=) c.3274C>T (p.Leu1092=) c.3199C>T (p.Leu1067=) c.1876C>T (p.Leu626=) | |
| 3 | g.38872216G>C | CA352171299 | SCN11A | c.3472C>G (p.Leu1158Val) c.3526C>G (n.3526C>G) c.3292C>G (p.Leu1098Val) c.3516C>G (n.3516C>G) c.3091C>G (p.Leu1031Val) c.3358C>G (p.Leu1120Val) c.2809C>G (p.Leu937Val) c.2020C>G (p.Leu674Val) c.3847C>G (p.Leu1283Val) c.3274C>G (p.Leu1092Val) c.3199C>G (p.Leu1067Val) c.1876C>G (p.Leu626Val) | |
| 3 | g.38872216G>T | CA352171300 | SCN11A | c.3472C>A (p.Leu1158Met) c.3526C>A (n.3526C>A) c.3292C>A (p.Leu1098Met) c.3516C>A (n.3516C>A) c.3091C>A (p.Leu1031Met) c.3358C>A (p.Leu1120Met) c.2809C>A (p.Leu937Met) c.2020C>A (p.Leu674Met) c.3847C>A (p.Leu1283Met) c.3274C>A (p.Leu1092Met) c.3199C>A (p.Leu1067Met) c.1876C>A (p.Leu626Met) | gnomAD v4 |
| 3 | g.38872217C>A | CA433142051 | SCN11A | c.3471G>T (p.Ala1157=) c.3525G>T (n.3525G>T) c.3291G>T (p.Ala1097=) c.3515G>T (n.3515G>T) c.3090G>T (p.Ala1030=) c.3357G>T (p.Ala1119=) c.2808G>T (p.Ala936=) c.2019G>T (p.Ala673=) c.3846G>T (p.Ala1282=) c.3273G>T (p.Ala1091=) c.3198G>T (p.Ala1066=) c.1875G>T (p.Ala625=) | |
| 3 | g.38872217C= | CA1358707893 | SCN11A | c.3471G= (p.Ala1157=) c.3525G= (n.3525G=) c.3291G= (p.Ala1097=) c.3515G= (n.3515G=) c.3090G= (p.Ala1030=) c.3357G= (p.Ala1119=) c.2808G= (p.Ala936=) c.2019G= (p.Ala673=) c.3846G= (p.Ala1282=) c.3273G= (p.Ala1091=) c.3198G= (p.Ala1066=) c.1875G= (p.Ala625=) | |
| 3 | g.38872217C>G | CA433142052 | SCN11A | c.3471G>C (p.Ala1157=) c.3525G>C (n.3525G>C) c.3291G>C (p.Ala1097=) c.3515G>C (n.3515G>C) c.3090G>C (p.Ala1030=) c.3357G>C (p.Ala1119=) c.2808G>C (p.Ala936=) c.2019G>C (p.Ala673=) c.3846G>C (p.Ala1282=) c.3273G>C (p.Ala1091=) c.3198G>C (p.Ala1066=) c.1875G>C (p.Ala625=) | |
| 3 | g.38872217C>T | CA2321776 | SCN11A | c.3471G>A (p.Ala1157=) c.3525G>A (n.3525G>A) c.3291G>A (p.Ala1097=) c.3515G>A (n.3515G>A) c.3090G>A (p.Ala1030=) c.3357G>A (p.Ala1119=) c.2808G>A (p.Ala936=) c.2019G>A (p.Ala673=) c.3846G>A (p.Ala1282=) c.3273G>A (p.Ala1091=) c.3198G>A (p.Ala1066=) c.1875G>A (p.Ala625=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38872218G>A | CA352171301 | SCN11A | c.3470C>T (p.Ala1157Val) c.3524C>T (n.3524C>T) c.3290C>T (p.Ala1097Val) c.3514C>T (n.3514C>T) c.3089C>T (p.Ala1030Val) c.3356C>T (p.Ala1119Val) c.2807C>T (p.Ala936Val) c.2018C>T (p.Ala673Val) c.3845C>T (p.Ala1282Val) c.3272C>T (p.Ala1091Val) c.3197C>T (p.Ala1066Val) c.1874C>T (p.Ala625Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.38872218G>C | CA352171302 | SCN11A | c.3470C>G (p.Ala1157Gly) c.3524C>G (n.3524C>G) c.3290C>G (p.Ala1097Gly) c.3514C>G (n.3514C>G) c.3089C>G (p.Ala1030Gly) c.3356C>G (p.Ala1119Gly) c.2807C>G (p.Ala936Gly) c.2018C>G (p.Ala673Gly) c.3845C>G (p.Ala1282Gly) c.3272C>G (p.Ala1091Gly) c.3197C>G (p.Ala1066Gly) c.1874C>G (p.Ala625Gly) | |
| 3 | g.38872218G= | CA1358707902 | SCN11A | c.3470C= (p.Ala1157=) c.3524C= (n.3524C=) c.3290C= (p.Ala1097=) c.3514C= (n.3514C=) c.3089C= (p.Ala1030=) c.3356C= (p.Ala1119=) c.2807C= (p.Ala936=) c.2018C= (p.Ala673=) c.3845C= (p.Ala1282=) c.3272C= (p.Ala1091=) c.3197C= (p.Ala1066=) c.1874C= (p.Ala625=) | |
| 3 | g.38872218G>T | CA352171303 | SCN11A | c.3470C>A (p.Ala1157Glu) c.3524C>A (n.3524C>A) c.3290C>A (p.Ala1097Glu) c.3514C>A (n.3514C>A) c.3089C>A (p.Ala1030Glu) c.3356C>A (p.Ala1119Glu) c.2807C>A (p.Ala936Glu) c.2018C>A (p.Ala673Glu) c.3845C>A (p.Ala1282Glu) c.3272C>A (p.Ala1091Glu) c.3197C>A (p.Ala1066Glu) c.1874C>A (p.Ala625Glu) | gnomAD v4 |
| 3 | g.38872219C>A | CA352171304 | SCN11A | c.3469G>T (p.Ala1157Ser) c.3523G>T (n.3523G>T) c.3289G>T (p.Ala1097Ser) c.3513G>T (n.3513G>T) c.3088G>T (p.Ala1030Ser) c.3355G>T (p.Ala1119Ser) c.2806G>T (p.Ala936Ser) c.2017G>T (p.Ala673Ser) c.3844G>T (p.Ala1282Ser) c.3271G>T (p.Ala1091Ser) c.3196G>T (p.Ala1066Ser) c.1873G>T (p.Ala625Ser) | |
| 3 | g.38872219C= | CA1358707904 | SCN11A | c.3469G= (p.Ala1157=) c.3523G= (n.3523G=) c.3289G= (p.Ala1097=) c.3513G= (n.3513G=) c.3088G= (p.Ala1030=) c.3355G= (p.Ala1119=) c.2806G= (p.Ala936=) c.2017G= (p.Ala673=) c.3844G= (p.Ala1282=) c.3271G= (p.Ala1091=) c.3196G= (p.Ala1066=) c.1873G= (p.Ala625=) | |
| 3 | g.38872219C>G | CA352171305 | SCN11A | c.3469G>C (p.Ala1157Pro) c.3523G>C (n.3523G>C) c.3289G>C (p.Ala1097Pro) c.3513G>C (n.3513G>C) c.3088G>C (p.Ala1030Pro) c.3355G>C (p.Ala1119Pro) c.2806G>C (p.Ala936Pro) c.2017G>C (p.Ala673Pro) c.3844G>C (p.Ala1282Pro) c.3271G>C (p.Ala1091Pro) c.3196G>C (p.Ala1066Pro) c.1873G>C (p.Ala625Pro) | |
| 3 | g.38872219C>T | CA352171306 | SCN11A | c.3469G>A (p.Ala1157Thr) c.3523G>A (n.3523G>A) c.3289G>A (p.Ala1097Thr) c.3513G>A (n.3513G>A) c.3088G>A (p.Ala1030Thr) c.3355G>A (p.Ala1119Thr) c.2806G>A (p.Ala936Thr) c.2017G>A (p.Ala673Thr) c.3844G>A (p.Ala1282Thr) c.3271G>A (p.Ala1091Thr) c.3196G>A (p.Ala1066Thr) c.1873G>A (p.Ala625Thr) | dbSNP |
| 3 | g.38872220A>C | CA433142053 | SCN11A | c.3468T>G (p.Arg1156=) c.3522T>G (n.3522T>G) c.3288T>G (p.Arg1096=) c.3512T>G (n.3512T>G) c.3087T>G (p.Arg1029=) c.3354T>G (p.Arg1118=) c.2805T>G (p.Arg935=) c.2016T>G (p.Arg672=) c.3843T>G (p.Arg1281=) c.3270T>G (p.Arg1090=) c.3195T>G (p.Arg1065=) c.1872T>G (p.Arg624=) | |
| 3 | g.38872220A>G | CA433142054 | SCN11A | c.3468T>C (p.Arg1156=) c.3522T>C (n.3522T>C) c.3288T>C (p.Arg1096=) c.3512T>C (n.3512T>C) c.3087T>C (p.Arg1029=) c.3354T>C (p.Arg1118=) c.2805T>C (p.Arg935=) c.2016T>C (p.Arg672=) c.3843T>C (p.Arg1281=) c.3270T>C (p.Arg1090=) c.3195T>C (p.Arg1065=) c.1872T>C (p.Arg624=) | gnomAD v4 |
| 3 | g.38872220A>T | CA433142055 | SCN11A | c.3468T>A (p.Arg1156=) c.3522T>A (n.3522T>A) c.3288T>A (p.Arg1096=) c.3512T>A (n.3512T>A) c.3087T>A (p.Arg1029=) c.3354T>A (p.Arg1118=) c.2805T>A (p.Arg935=) c.2016T>A (p.Arg672=) c.3843T>A (p.Arg1281=) c.3270T>A (p.Arg1090=) c.3195T>A (p.Arg1065=) c.1872T>A (p.Arg624=) | |
| 3 | g.38872221C>A | CA2321778 | SCN11A | c.3467G>T (p.Arg1156Leu) c.3521G>T (n.3521G>T) c.3287G>T (p.Arg1096Leu) c.3511G>T (n.3511G>T) c.3086G>T (p.Arg1029Leu) c.3353G>T (p.Arg1118Leu) c.2804G>T (p.Arg935Leu) c.2015G>T (p.Arg672Leu) c.3842G>T (p.Arg1281Leu) c.3269G>T (p.Arg1090Leu) c.3194G>T (p.Arg1065Leu) c.1871G>T (p.Arg624Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38872221C= | CA1358707906 | SCN11A | c.3467G= (p.Arg1156=) c.3521G= (n.3521G=) c.3287G= (p.Arg1096=) c.3511G= (n.3511G=) c.3086G= (p.Arg1029=) c.3353G= (p.Arg1118=) c.2804G= (p.Arg935=) c.2015G= (p.Arg672=) c.3842G= (p.Arg1281=) c.3269G= (p.Arg1090=) c.3194G= (p.Arg1065=) c.1871G= (p.Arg624=) | |
| 3 | g.38872221C>G | CA352171307 | SCN11A | c.3467G>C (p.Arg1156Pro) c.3521G>C (n.3521G>C) c.3287G>C (p.Arg1096Pro) c.3511G>C (n.3511G>C) c.3086G>C (p.Arg1029Pro) c.3353G>C (p.Arg1118Pro) c.2804G>C (p.Arg935Pro) c.2015G>C (p.Arg672Pro) c.3842G>C (p.Arg1281Pro) c.3269G>C (p.Arg1090Pro) c.3194G>C (p.Arg1065Pro) c.1871G>C (p.Arg624Pro) | |
| 3 | g.38872221C>T | CA2321777 | SCN11A | c.3467G>A (p.Arg1156His) c.3521G>A (n.3521G>A) c.3287G>A (p.Arg1096His) c.3511G>A (n.3511G>A) c.3086G>A (p.Arg1029His) c.3353G>A (p.Arg1118His) c.2804G>A (p.Arg935His) c.2015G>A (p.Arg672His) c.3842G>A (p.Arg1281His) c.3269G>A (p.Arg1090His) c.3194G>A (p.Arg1065His) c.1871G>A (p.Arg624His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.38872222G>A | CA2321780 | SCN11A | c.3466C>T (p.Arg1156Cys) c.3520C>T (n.3520C>T) c.3286C>T (p.Arg1096Cys) c.3510C>T (n.3510C>T) c.3085C>T (p.Arg1029Cys) c.3352C>T (p.Arg1118Cys) c.2803C>T (p.Arg935Cys) c.2014C>T (p.Arg672Cys) c.3841C>T (p.Arg1281Cys) c.3268C>T (p.Arg1090Cys) c.3193C>T (p.Arg1065Cys) c.1870C>T (p.Arg624Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.38872222G>C | CA2321779 | SCN11A | c.3466C>G (p.Arg1156Gly) c.3520C>G (n.3520C>G) c.3286C>G (p.Arg1096Gly) c.3510C>G (n.3510C>G) c.3085C>G (p.Arg1029Gly) c.3352C>G (p.Arg1118Gly) c.2803C>G (p.Arg935Gly) c.2014C>G (p.Arg672Gly) c.3841C>G (p.Arg1281Gly) c.3268C>G (p.Arg1090Gly) c.3193C>G (p.Arg1065Gly) c.1870C>G (p.Arg624Gly) | dbSNP ExAC gnomAD v2 |
| 3 | g.38872222G= | CA1358707911 | SCN11A | c.3466C= (p.Arg1156=) c.3520C= (n.3520C=) c.3286C= (p.Arg1096=) c.3510C= (n.3510C=) c.3085C= (p.Arg1029=) c.3352C= (p.Arg1118=) c.2803C= (p.Arg935=) c.2014C= (p.Arg672=) c.3841C= (p.Arg1281=) c.3268C= (p.Arg1090=) c.3193C= (p.Arg1065=) c.1870C= (p.Arg624=) | |
| 3 | g.38872222G>T | CA352171308 | SCN11A | c.3466C>A (p.Arg1156Ser) c.3520C>A (n.3520C>A) c.3286C>A (p.Arg1096Ser) c.3510C>A (n.3510C>A) c.3085C>A (p.Arg1029Ser) c.3352C>A (p.Arg1118Ser) c.2803C>A (p.Arg935Ser) c.2014C>A (p.Arg672Ser) c.3841C>A (p.Arg1281Ser) c.3268C>A (p.Arg1090Ser) c.3193C>A (p.Arg1065Ser) c.1870C>A (p.Arg624Ser) | gnomAD v4 |
| 3 | g.38872223A>C | CA433142056 | SCN11A | c.3465T>G (p.Leu1155=) c.3519T>G (n.3519T>G) c.3285T>G (p.Leu1095=) c.3509T>G (n.3509T>G) c.3084T>G (p.Leu1028=) c.3351T>G (p.Leu1117=) c.2802T>G (p.Leu934=) c.2013T>G (p.Leu671=) c.3840T>G (p.Leu1280=) c.3267T>G (p.Leu1089=) c.3192T>G (p.Leu1064=) c.1869T>G (p.Leu623=) | |
| 3 | g.38872223A>G | CA433142057 | SCN11A | c.3465T>C (p.Leu1155=) c.3519T>C (n.3519T>C) c.3285T>C (p.Leu1095=) c.3509T>C (n.3509T>C) c.3084T>C (p.Leu1028=) c.3351T>C (p.Leu1117=) c.2802T>C (p.Leu934=) c.2013T>C (p.Leu671=) c.3840T>C (p.Leu1280=) c.3267T>C (p.Leu1089=) c.3192T>C (p.Leu1064=) c.1869T>C (p.Leu623=) | |
| 3 | g.38872223A>T | CA433142058 | SCN11A | c.3465T>A (p.Leu1155=) c.3519T>A (n.3519T>A) c.3285T>A (p.Leu1095=) c.3509T>A (n.3509T>A) c.3084T>A (p.Leu1028=) c.3351T>A (p.Leu1117=) c.2802T>A (p.Leu934=) c.2013T>A (p.Leu671=) c.3840T>A (p.Leu1280=) c.3267T>A (p.Leu1089=) c.3192T>A (p.Leu1064=) c.1869T>A (p.Leu623=) | |
| 3 | g.38872224A= | CA1358707917 | SCN11A | c.3464T= (p.Leu1155=) c.3518T= (n.3518T=) c.3284T= (p.Leu1095=) c.3508T= (n.3508T=) c.3083T= (p.Leu1028=) c.3350T= (p.Leu1117=) c.2801T= (p.Leu934=) c.2012T= (p.Leu671=) c.3839T= (p.Leu1280=) c.3266T= (p.Leu1089=) c.3191T= (p.Leu1064=) c.1868T= (p.Leu623=) | |
| 3 | g.38872224A>C | CA352171309 | SCN11A | c.3464T>G (p.Leu1155Arg) c.3518T>G (n.3518T>G) c.3284T>G (p.Leu1095Arg) c.3508T>G (n.3508T>G) c.3083T>G (p.Leu1028Arg) c.3350T>G (p.Leu1117Arg) c.2801T>G (p.Leu934Arg) c.2012T>G (p.Leu671Arg) c.3839T>G (p.Leu1280Arg) c.3266T>G (p.Leu1089Arg) c.3191T>G (p.Leu1064Arg) c.1868T>G (p.Leu623Arg) | |
| 3 | g.38872224A>G | CA72980401 | SCN11A | c.3464T>C (p.Leu1155Pro) c.3518T>C (n.3518T>C) c.3284T>C (p.Leu1095Pro) c.3508T>C (n.3508T>C) c.3083T>C (p.Leu1028Pro) c.3350T>C (p.Leu1117Pro) c.2801T>C (p.Leu934Pro) c.2012T>C (p.Leu671Pro) c.3839T>C (p.Leu1280Pro) c.3266T>C (p.Leu1089Pro) c.3191T>C (p.Leu1064Pro) c.1868T>C (p.Leu623Pro) | dbSNP |
| 3 | g.38872224A>T | CA352171310 | SCN11A | c.3464T>A (p.Leu1155His) c.3518T>A (n.3518T>A) c.3284T>A (p.Leu1095His) c.3508T>A (n.3508T>A) c.3083T>A (p.Leu1028His) c.3350T>A (p.Leu1117His) c.2801T>A (p.Leu934His) c.2012T>A (p.Leu671His) c.3839T>A (p.Leu1280His) c.3266T>A (p.Leu1089His) c.3191T>A (p.Leu1064His) c.1868T>A (p.Leu623His) | |
| 3 | g.38872225G>A | CA352171311 | SCN11A | c.3463C>T (p.Leu1155Phe) c.3517C>T (n.3517C>T) c.3283C>T (p.Leu1095Phe) c.3507C>T (n.3507C>T) c.3082C>T (p.Leu1028Phe) c.3349C>T (p.Leu1117Phe) c.2800C>T (p.Leu934Phe) c.2011C>T (p.Leu671Phe) c.3838C>T (p.Leu1280Phe) c.3265C>T (p.Leu1089Phe) c.3190C>T (p.Leu1064Phe) c.1867C>T (p.Leu623Phe) | |
| 3 | g.38872225G>C | CA352171312 | SCN11A | c.3463C>G (p.Leu1155Val) c.3517C>G (n.3517C>G) c.3283C>G (p.Leu1095Val) c.3507C>G (n.3507C>G) c.3082C>G (p.Leu1028Val) c.3349C>G (p.Leu1117Val) c.2800C>G (p.Leu934Val) c.2011C>G (p.Leu671Val) c.3838C>G (p.Leu1280Val) c.3265C>G (p.Leu1089Val) c.3190C>G (p.Leu1064Val) c.1867C>G (p.Leu623Val) | |
| 3 | g.38872225G>T | CA352171313 | SCN11A | c.3463C>A (p.Leu1155Ile) c.3517C>A (n.3517C>A) c.3283C>A (p.Leu1095Ile) c.3507C>A (n.3507C>A) c.3082C>A (p.Leu1028Ile) c.3349C>A (p.Leu1117Ile) c.2800C>A (p.Leu934Ile) c.2011C>A (p.Leu671Ile) c.3838C>A (p.Leu1280Ile) c.3265C>A (p.Leu1089Ile) c.3190C>A (p.Leu1064Ile) c.1867C>A (p.Leu623Ile) | |
| 3 | g.38872226A>C | CA433142059 | SCN11A | c.3462T>G (p.Pro1154=) c.3516T>G (n.3516T>G) c.3282T>G (p.Pro1094=) c.3506T>G (n.3506T>G) c.3081T>G (p.Pro1027=) c.3348T>G (p.Pro1116=) c.2799T>G (p.Pro933=) c.2010T>G (p.Pro670=) c.3837T>G (p.Pro1279=) c.3264T>G (p.Pro1088=) c.3189T>G (p.Pro1063=) c.1866T>G (p.Pro622=) | |
| 3 | g.38872226A>G | CA433142060 | SCN11A | c.3462T>C (p.Pro1154=) c.3516T>C (n.3516T>C) c.3282T>C (p.Pro1094=) c.3506T>C (n.3506T>C) c.3081T>C (p.Pro1027=) c.3348T>C (p.Pro1116=) c.2799T>C (p.Pro933=) c.2010T>C (p.Pro670=) c.3837T>C (p.Pro1279=) c.3264T>C (p.Pro1088=) c.3189T>C (p.Pro1063=) c.1866T>C (p.Pro622=) | |
| 3 | g.38872226A>T | CA433142061 | SCN11A | c.3462T>A (p.Pro1154=) c.3516T>A (n.3516T>A) c.3282T>A (p.Pro1094=) c.3506T>A (n.3506T>A) c.3081T>A (p.Pro1027=) c.3348T>A (p.Pro1116=) c.2799T>A (p.Pro933=) c.2010T>A (p.Pro670=) c.3837T>A (p.Pro1279=) c.3264T>A (p.Pro1088=) c.3189T>A (p.Pro1063=) c.1866T>A (p.Pro622=) | |
| 3 | g.38872227G>A | CA2321781 | SCN11A | c.3461C>T (p.Pro1154Leu) c.3515C>T (n.3515C>T) c.3281C>T (p.Pro1094Leu) c.3505C>T (n.3505C>T) c.3080C>T (p.Pro1027Leu) c.3347C>T (p.Pro1116Leu) c.2798C>T (p.Pro933Leu) c.2009C>T (p.Pro670Leu) c.3836C>T (p.Pro1279Leu) c.3263C>T (p.Pro1088Leu) c.3188C>T (p.Pro1063Leu) c.1865C>T (p.Pro622Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38872227G>C | CA352171314 | SCN11A | c.3461C>G (p.Pro1154Arg) c.3515C>G (n.3515C>G) c.3281C>G (p.Pro1094Arg) c.3505C>G (n.3505C>G) c.3080C>G (p.Pro1027Arg) c.3347C>G (p.Pro1116Arg) c.2798C>G (p.Pro933Arg) c.2009C>G (p.Pro670Arg) c.3836C>G (p.Pro1279Arg) c.3263C>G (p.Pro1088Arg) c.3188C>G (p.Pro1063Arg) c.1865C>G (p.Pro622Arg) | |
| 3 | g.38872227G= | CA1358707920 | SCN11A | c.3461C= (p.Pro1154=) c.3515C= (n.3515C=) c.3281C= (p.Pro1094=) c.3505C= (n.3505C=) c.3080C= (p.Pro1027=) c.3347C= (p.Pro1116=) c.2798C= (p.Pro933=) c.2009C= (p.Pro670=) c.3836C= (p.Pro1279=) c.3263C= (p.Pro1088=) c.3188C= (p.Pro1063=) c.1865C= (p.Pro622=) | |
| 3 | g.38872227G>T | CA352171315 | SCN11A | c.3461C>A (p.Pro1154His) c.3515C>A (n.3515C>A) c.3281C>A (p.Pro1094His) c.3505C>A (n.3505C>A) c.3080C>A (p.Pro1027His) c.3347C>A (p.Pro1116His) c.2798C>A (p.Pro933His) c.2009C>A (p.Pro670His) c.3836C>A (p.Pro1279His) c.3263C>A (p.Pro1088His) c.3188C>A (p.Pro1063His) c.1865C>A (p.Pro622His) | |
| 3 | g.38872228G>A | CA352171316 | SCN11A | c.3460C>T (p.Pro1154Ser) c.3514C>T (n.3514C>T) c.3280C>T (p.Pro1094Ser) c.3504C>T (n.3504C>T) c.3079C>T (p.Pro1027Ser) c.3346C>T (p.Pro1116Ser) c.2797C>T (p.Pro933Ser) c.2008C>T (p.Pro670Ser) c.3835C>T (p.Pro1279Ser) c.3262C>T (p.Pro1088Ser) c.3187C>T (p.Pro1063Ser) c.1864C>T (p.Pro622Ser) | |
| 3 | g.38872228G>C | CA352171317 | SCN11A | c.3460C>G (p.Pro1154Ala) c.3514C>G (n.3514C>G) c.3280C>G (p.Pro1094Ala) c.3504C>G (n.3504C>G) c.3079C>G (p.Pro1027Ala) c.3346C>G (p.Pro1116Ala) c.2797C>G (p.Pro933Ala) c.2008C>G (p.Pro670Ala) c.3835C>G (p.Pro1279Ala) c.3262C>G (p.Pro1088Ala) c.3187C>G (p.Pro1063Ala) c.1864C>G (p.Pro622Ala) | |
| 3 | g.38872228G>T | CA352171318 | SCN11A | c.3460C>A (p.Pro1154Thr) c.3514C>A (n.3514C>A) c.3280C>A (p.Pro1094Thr) c.3504C>A (n.3504C>A) c.3079C>A (p.Pro1027Thr) c.3346C>A (p.Pro1116Thr) c.2797C>A (p.Pro933Thr) c.2008C>A (p.Pro670Thr) c.3835C>A (p.Pro1279Thr) c.3262C>A (p.Pro1088Thr) c.3187C>A (p.Pro1063Thr) c.1864C>A (p.Pro622Thr) | gnomAD v4 |