| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166272630G>A | CA429978137 | SCN1A-AS1,SCN9A | c.3120C>T (p.Asn1040=) c.120C>T (p.Asn40=) c.3087C>T (p.Asn1029=) c.1877-132C>T n.870-4458G>A c.2733C>T (p.Asn911=) c.2376C>T (p.Asn792=) | gnomAD v4 |
| 2 | g.166272630G>C | CA1944134 | SCN1A-AS1,SCN9A | c.3120C>G (p.Asn1040Lys) c.120C>G (p.Asn40Lys) c.3087C>G (p.Asn1029Lys) c.1877-132C>G n.870-4458G>C c.2733C>G (p.Asn911Lys) c.2376C>G (p.Asn792Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.166272630G= | CA1304962792 | SCN1A-AS1,SCN9A | c.3120C= (p.Asn1040=) c.120C= (p.Asn40=) c.3087C= (p.Asn1029=) c.1877-132C= n.870-4458G= c.2733C= (p.Asn911=) c.2376C= (p.Asn792=) | |
| 2 | g.166272630G>T | CA349073783 | SCN1A-AS1,SCN9A | c.3120C>A (p.Asn1040Lys) c.120C>A (p.Asn40Lys) c.3087C>A (p.Asn1029Lys) c.1877-132C>A n.870-4458G>T c.2733C>A (p.Asn911Lys) c.2376C>A (p.Asn792Lys) | |
| 2 | g.166272631T>A | CA349073787 | SCN1A-AS1,SCN9A | c.3119A>T (p.Asn1040Ile) c.119A>T (p.Asn40Ile) c.3086A>T (p.Asn1029Ile) c.1877-133A>T n.870-4457T>A c.2732A>T (p.Asn911Ile) c.2375A>T (p.Asn792Ile) | |
| 2 | g.166272631T>C | CA349073788 | SCN1A-AS1,SCN9A | c.3119A>G (p.Asn1040Ser) c.119A>G (p.Asn40Ser) c.3086A>G (p.Asn1029Ser) c.1877-133A>G n.870-4457T>C c.2732A>G (p.Asn911Ser) c.2375A>G (p.Asn792Ser) | |
| 2 | g.166272631T>G | CA349073791 | SCN1A-AS1,SCN9A | c.3119A>C (p.Asn1040Thr) c.119A>C (p.Asn40Thr) c.3086A>C (p.Asn1029Thr) c.1877-133A>C n.870-4457T>G c.2732A>C (p.Asn911Thr) c.2375A>C (p.Asn792Thr) | |
| 2 | g.166272632T>A | CA349073793 | SCN1A-AS1,SCN9A | c.3118A>T (p.Asn1040Tyr) c.118A>T (p.Asn40Tyr) c.3085A>T (p.Asn1029Tyr) c.1877-134A>T n.870-4456T>A c.2731A>T (p.Asn911Tyr) c.2374A>T (p.Asn792Tyr) | |
| 2 | g.166272632T>C | CA349073795 | SCN1A-AS1,SCN9A | c.3118A>G (p.Asn1040Asp) c.118A>G (p.Asn40Asp) c.3085A>G (p.Asn1029Asp) c.1877-134A>G n.870-4456T>C c.2731A>G (p.Asn911Asp) c.2374A>G (p.Asn792Asp) | |
| 2 | g.166272632T>G | CA349073797 | SCN1A-AS1,SCN9A | c.3118A>C (p.Asn1040His) c.118A>C (p.Asn40His) c.3085A>C (p.Asn1029His) c.1877-134A>C n.870-4456T>G c.2731A>C (p.Asn911His) c.2374A>C (p.Asn792His) | |
| 2 | g.166272633A>C | CA429978138 | SCN1A-AS1,SCN9A | c.3117T>G (p.Ser1039=) c.117T>G (p.Ser39=) c.3084T>G (p.Ser1028=) c.1877-135T>G n.870-4455A>C c.2730T>G (p.Ser910=) c.2373T>G (p.Ser791=) | |
| 2 | g.166272633A>G | CA429978141 | SCN1A-AS1,SCN9A | c.3117T>C (p.Ser1039=) c.117T>C (p.Ser39=) c.3084T>C (p.Ser1028=) c.1877-135T>C n.870-4455A>G c.2730T>C (p.Ser910=) c.2373T>C (p.Ser791=) | |
| 2 | g.166272633A>T | CA429978144 | SCN1A-AS1,SCN9A | c.3117T>A (p.Ser1039=) c.117T>A (p.Ser39=) c.3084T>A (p.Ser1028=) c.1877-135T>A n.870-4455A>T c.2730T>A (p.Ser910=) c.2373T>A (p.Ser791=) | |
| 2 | g.166272634G>A | CA349073802 | SCN1A-AS1,SCN9A | c.3116C>T (p.Ser1039Phe) c.116C>T (p.Ser39Phe) c.3083C>T (p.Ser1028Phe) c.1877-136C>T n.870-4454G>A c.2729C>T (p.Ser910Phe) c.2372C>T (p.Ser791Phe) | |
| 2 | g.166272634G>C | CA349073804 | SCN1A-AS1,SCN9A | c.3116C>G (p.Ser1039Cys) c.116C>G (p.Ser39Cys) c.3083C>G (p.Ser1028Cys) c.1877-136C>G n.870-4454G>C c.2729C>G (p.Ser910Cys) c.2372C>G (p.Ser791Cys) | |
| 2 | g.166272634G>T | CA349073806 | SCN1A-AS1,SCN9A | c.3116C>A (p.Ser1039Tyr) c.116C>A (p.Ser39Tyr) c.3083C>A (p.Ser1028Tyr) c.1877-136C>A n.870-4454G>T c.2729C>A (p.Ser910Tyr) c.2372C>A (p.Ser791Tyr) | |
| 2 | g.166272635A>C | CA349073811 | SCN1A-AS1,SCN9A | c.3115T>G (p.Ser1039Ala) c.115T>G (p.Ser39Ala) c.3082T>G (p.Ser1028Ala) c.1877-137T>G n.870-4453A>C c.2728T>G (p.Ser910Ala) c.2371T>G (p.Ser791Ala) | |
| 2 | g.166272635A>G | CA349073810 | SCN1A-AS1,SCN9A | c.3115T>C (p.Ser1039Pro) c.115T>C (p.Ser39Pro) c.3082T>C (p.Ser1028Pro) c.1877-137T>C n.870-4453A>G c.2728T>C (p.Ser910Pro) c.2371T>C (p.Ser791Pro) | |
| 2 | g.166272635A>T | CA349073809 | SCN1A-AS1,SCN9A | c.3115T>A (p.Ser1039Thr) c.115T>A (p.Ser39Thr) c.3082T>A (p.Ser1028Thr) c.1877-137T>A n.870-4453A>T c.2728T>A (p.Ser910Thr) c.2371T>A (p.Ser791Thr) | |
| 2 | g.166272636A>C | CA349073812 | SCN1A-AS1,SCN9A | c.3114T>G (p.Ile1038Met) c.114T>G (p.Ile38Met) c.3081T>G (p.Ile1027Met) c.1877-138T>G n.870-4452A>C c.2727T>G (p.Ile909Met) c.2370T>G (p.Ile790Met) | |
| 2 | g.166272636A>G | CA429978149 | SCN1A-AS1,SCN9A | c.3114T>C (p.Ile1038=) c.114T>C (p.Ile38=) c.3081T>C (p.Ile1027=) c.1877-138T>C n.870-4452A>G c.2727T>C (p.Ile909=) c.2370T>C (p.Ile790=) | |
| 2 | g.166272636A>T | CA429978151 | SCN1A-AS1,SCN9A | c.3114T>A (p.Ile1038=) c.114T>A (p.Ile38=) c.3081T>A (p.Ile1027=) c.1877-138T>A n.870-4452A>T c.2727T>A (p.Ile909=) c.2370T>A (p.Ile790=) | COSMIC COSMIC |
| 2 | g.166272637A>C | CA349073815 | SCN1A-AS1,SCN9A | c.3113T>G (p.Ile1038Ser) c.113T>G (p.Ile38Ser) c.3080T>G (p.Ile1027Ser) c.1877-139T>G n.870-4451A>C c.2726T>G (p.Ile909Ser) c.2369T>G (p.Ile790Ser) | |
| 2 | g.166272637A>G | CA349073816 | SCN1A-AS1,SCN9A | c.3113T>C (p.Ile1038Thr) c.113T>C (p.Ile38Thr) c.3080T>C (p.Ile1027Thr) c.1877-139T>C n.870-4451A>G c.2726T>C (p.Ile909Thr) c.2369T>C (p.Ile790Thr) | gnomAD v4 |
| 2 | g.166272637A>T | CA349073819 | SCN1A-AS1,SCN9A | c.3113T>A (p.Ile1038Asn) c.113T>A (p.Ile38Asn) c.3080T>A (p.Ile1027Asn) c.1877-139T>A n.870-4451A>T c.2726T>A (p.Ile909Asn) c.2369T>A (p.Ile790Asn) | |
| 2 | g.166272638T>A | CA349073823 | SCN1A-AS1,SCN9A | c.3112A>T (p.Ile1038Phe) c.112A>T (p.Ile38Phe) c.3079A>T (p.Ile1027Phe) c.1877-140A>T n.870-4450T>A c.2725A>T (p.Ile909Phe) c.2368A>T (p.Ile790Phe) | |
| 2 | g.166272638T>C | CA1944135 | SCN1A-AS1,SCN9A | c.3112A>G (p.Ile1038Val) c.112A>G (p.Ile38Val) c.3079A>G (p.Ile1027Val) c.1877-140A>G n.870-4450T>C c.2725A>G (p.Ile909Val) c.2368A>G (p.Ile790Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.166272638T>G | CA349073829 | SCN1A-AS1,SCN9A | c.3112A>C (p.Ile1038Leu) c.112A>C (p.Ile38Leu) c.3079A>C (p.Ile1027Leu) c.1877-140A>C n.870-4450T>G c.2725A>C (p.Ile909Leu) c.2368A>C (p.Ile790Leu) | |
| 2 | g.166272638T= | CA1304962793 | SCN1A-AS1,SCN9A | c.3112A= (p.Ile1038=) c.112A= (p.Ile38=) c.3079A= (p.Ile1027=) c.1877-140A= n.870-4450T= c.2725A= (p.Ile909=) c.2368A= (p.Ile790=) | |
| 2 | g.166272639A= | CA1304962794 | SCN1A-AS1,SCN9A | c.3111T= (p.Tyr1037=) c.111T= (p.Tyr37=) c.3078T= (p.Tyr1026=) c.1877-141T= n.870-4449A= c.2724T= (p.Tyr908=) c.2367T= (p.Tyr789=) | |
| 2 | g.166272639A>C | CA349073832 | SCN1A-AS1,SCN9A | c.3111T>G (p.Tyr1037Ter) c.111T>G (p.Tyr37Ter) c.3078T>G (p.Tyr1026Ter) c.1877-141T>G n.870-4449A>C c.2724T>G (p.Tyr908Ter) c.2367T>G (p.Tyr789Ter) | |
| 2 | g.166272639A>G | CA59791527 | SCN1A-AS1,SCN9A | c.3111T>C (p.Tyr1037=) c.111T>C (p.Tyr37=) c.3078T>C (p.Tyr1026=) c.1877-141T>C n.870-4449A>G c.2724T>C (p.Tyr908=) c.2367T>C (p.Tyr789=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.166272639A>T | CA349073835 | SCN1A-AS1,SCN9A | c.3111T>A (p.Tyr1037Ter) c.111T>A (p.Tyr37Ter) c.3078T>A (p.Tyr1026Ter) c.1877-141T>A n.870-4449A>T c.2724T>A (p.Tyr908Ter) c.2367T>A (p.Tyr789Ter) | |
| 2 | g.166272640T>A | CA349073836 | SCN1A-AS1,SCN9A | c.3110A>T (p.Tyr1037Phe) c.110A>T (p.Tyr37Phe) c.3077A>T (p.Tyr1026Phe) c.1877-142A>T n.870-4448T>A c.2723A>T (p.Tyr908Phe) c.2366A>T (p.Tyr789Phe) | ClinVar |
| 2 | g.166272640T>C | CA59791528 | SCN1A-AS1,SCN9A | c.3110A>G (p.Tyr1037Cys) c.110A>G (p.Tyr37Cys) c.3077A>G (p.Tyr1026Cys) c.1877-142A>G n.870-4448T>C c.2723A>G (p.Tyr908Cys) c.2366A>G (p.Tyr789Cys) | ClinVar dbSNP gnomAD v4 |
| 2 | g.166272640T>G | CA349073837 | SCN1A-AS1,SCN9A | c.3110A>C (p.Tyr1037Ser) c.110A>C (p.Tyr37Ser) c.3077A>C (p.Tyr1026Ser) c.1877-142A>C n.870-4448T>G c.2723A>C (p.Tyr908Ser) c.2366A>C (p.Tyr789Ser) | |
| 2 | g.166272640T= | CA1304962795 | SCN1A-AS1,SCN9A | c.3110A= (p.Tyr1037=) c.110A= (p.Tyr37=) c.3077A= (p.Tyr1026=) c.1877-142A= n.870-4448T= c.2723A= (p.Tyr908=) c.2366A= (p.Tyr789=) | |
| 2 | g.166272641A>C | CA349073842 | SCN1A-AS1,SCN9A | c.3109T>G (p.Tyr1037Asp) c.109T>G (p.Tyr37Asp) c.3076T>G (p.Tyr1026Asp) c.1877-143T>G n.870-4447A>C c.2722T>G (p.Tyr908Asp) c.2365T>G (p.Tyr789Asp) | |
| 2 | g.166272641A>G | CA349073841 | SCN1A-AS1,SCN9A | c.3109T>C (p.Tyr1037His) c.109T>C (p.Tyr37His) c.3076T>C (p.Tyr1026His) c.1877-143T>C n.870-4447A>G c.2722T>C (p.Tyr908His) c.2365T>C (p.Tyr789His) | |
| 2 | g.166272641A>T | CA349073839 | SCN1A-AS1,SCN9A | c.3109T>A (p.Tyr1037Asn) c.109T>A (p.Tyr37Asn) c.3076T>A (p.Tyr1026Asn) c.1877-143T>A n.870-4447A>T c.2722T>A (p.Tyr908Asn) c.2365T>A (p.Tyr789Asn) | |
| 2 | g.166272642G>A | CA429978155 | SCN1A-AS1,SCN9A | c.3108C>T (p.Asn1036=) c.108C>T (p.Asn36=) c.3075C>T (p.Asn1025=) c.1877-144C>T n.870-4446G>A c.2721C>T (p.Asn907=) c.2364C>T (p.Asn788=) | gnomAD v4 |
| 2 | g.166272642G>C | CA349073847 | SCN1A-AS1,SCN9A | c.3108C>G (p.Asn1036Lys) c.108C>G (p.Asn36Lys) c.3075C>G (p.Asn1025Lys) c.1877-144C>G n.870-4446G>C c.2721C>G (p.Asn907Lys) c.2364C>G (p.Asn788Lys) | |
| 2 | g.166272642G>T | CA349073845 | SCN1A-AS1,SCN9A | c.3108C>A (p.Asn1036Lys) c.108C>A (p.Asn36Lys) c.3075C>A (p.Asn1025Lys) c.1877-144C>A n.870-4446G>T c.2721C>A (p.Asn907Lys) c.2364C>A (p.Asn788Lys) | |
| 2 | g.166272643T>A | CA349073850 | SCN1A-AS1,SCN9A | c.3107A>T (p.Asn1036Ile) c.107A>T (p.Asn36Ile) c.3074A>T (p.Asn1025Ile) c.1877-145A>T n.870-4445T>A c.2720A>T (p.Asn907Ile) c.2363A>T (p.Asn788Ile) | |
| 2 | g.166272643T>C | CA349073848 | SCN1A-AS1,SCN9A | c.3107A>G (p.Asn1036Ser) c.107A>G (p.Asn36Ser) c.3074A>G (p.Asn1025Ser) c.1877-145A>G n.870-4445T>C c.2720A>G (p.Asn907Ser) c.2363A>G (p.Asn788Ser) | |
| 2 | g.166272643T>G | CA349073849 | SCN1A-AS1,SCN9A | c.3107A>C (p.Asn1036Thr) c.107A>C (p.Asn36Thr) c.3074A>C (p.Asn1025Thr) c.1877-145A>C n.870-4445T>G c.2720A>C (p.Asn907Thr) c.2363A>C (p.Asn788Thr) | |
| 2 | g.166272644T>A | CA349073852 | SCN1A-AS1,SCN9A | c.3106A>T (p.Asn1036Tyr) c.106A>T (p.Asn36Tyr) c.3073A>T (p.Asn1025Tyr) c.1877-146A>T n.870-4444T>A c.2719A>T (p.Asn907Tyr) c.2362A>T (p.Asn788Tyr) | |
| 2 | g.166272644T>C | CA349073860 | SCN1A-AS1,SCN9A | c.3106A>G (p.Asn1036Asp) c.106A>G (p.Asn36Asp) c.3073A>G (p.Asn1025Asp) c.1877-146A>G n.870-4444T>C c.2719A>G (p.Asn907Asp) c.2362A>G (p.Asn788Asp) | |
| 2 | g.166272644T>G | CA349073864 | SCN1A-AS1,SCN9A | c.3106A>C (p.Asn1036His) c.106A>C (p.Asn36His) c.3073A>C (p.Asn1025His) c.1877-146A>C n.870-4444T>G c.2719A>C (p.Asn907His) c.2362A>C (p.Asn788His) | |
| 2 | g.166272645T>A | CA349073868 | SCN1A-AS1,SCN9A | c.3105A>T (p.Glu1035Asp) c.105A>T (p.Glu35Asp) c.3072A>T (p.Glu1024Asp) c.1877-147A>T n.870-4443T>A c.2718A>T (p.Glu906Asp) c.2361A>T (p.Glu787Asp) |