Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
2 | g.166272645T>C | CA429977874 | SCN1A-AS1,SCN9A | c.3105A>G (p.Glu1035=) c.105A>G (p.Glu35=) c.3072A>G (p.Glu1024=) c.1877-147A>G n.870-4443T>C c.2718A>G (p.Glu906=) c.2361A>G (p.Glu787=) | |
2 | g.166272645T>G | CA349073877 | SCN1A-AS1,SCN9A | c.3105A>C (p.Glu1035Asp) c.105A>C (p.Glu35Asp) c.3072A>C (p.Glu1024Asp) c.1877-147A>C n.870-4443T>G c.2718A>C (p.Glu906Asp) c.2361A>C (p.Glu787Asp) | |
2 | g.166272645_166272646insC | CA2661766688 | SCN1A-AS1,SCN9A | c.3104_3105insG (p.Asn1036LysfsTer5) c.104_105insG (p.Asn36LysfsTer5) c.3071_3072insG (p.Asn1025LysfsTer5) c.1877-148_1877-147insG n.870-4443_870-4442insC c.2717_2718insG (p.Asn907LysfsTer5) c.2360_2361insG (p.Asn788LysfsTer5) | gnomAD v4 |
2 | g.166272646T>A | CA349073880 | SCN1A-AS1,SCN9A | c.3104A>T (p.Glu1035Val) c.104A>T (p.Glu35Val) c.3071A>T (p.Glu1024Val) c.1877-148A>T n.870-4442T>A c.2717A>T (p.Glu906Val) c.2360A>T (p.Glu787Val) | COSMIC COSMIC |
2 | g.166272646T>C | CA349073883 | SCN1A-AS1,SCN9A | c.3104A>G (p.Glu1035Gly) c.104A>G (p.Glu35Gly) c.3071A>G (p.Glu1024Gly) c.1877-148A>G n.870-4442T>C c.2717A>G (p.Glu906Gly) c.2360A>G (p.Glu787Gly) | gnomAD v4 |
2 | g.166272646T>G | CA349073887 | SCN1A-AS1,SCN9A | c.3104A>C (p.Glu1035Ala) c.104A>C (p.Glu35Ala) c.3071A>C (p.Glu1024Ala) c.1877-148A>C n.870-4442T>G c.2717A>C (p.Glu906Ala) c.2360A>C (p.Glu787Ala) | |
2 | g.166272647C>A | CA1944136 | SCN1A-AS1,SCN9A | c.3103G>T (p.Glu1035Ter) c.103G>T (p.Glu35Ter) c.3070G>T (p.Glu1024Ter) c.1877-149G>T n.870-4441C>A c.2716G>T (p.Glu906Ter) c.2359G>T (p.Glu787Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166272647C= | CA1304962796 | SCN1A-AS1,SCN9A | c.3103G= (p.Glu1035=) c.103G= (p.Glu35=) c.3070G= (p.Glu1024=) c.1877-149G= n.870-4441C= c.2716G= (p.Glu906=) c.2359G= (p.Glu787=) | |
2 | g.166272647C>G | CA349073891 | SCN1A-AS1,SCN9A | c.3103G>C (p.Glu1035Gln) c.103G>C (p.Glu35Gln) c.3070G>C (p.Glu1024Gln) c.1877-149G>C n.870-4441C>G c.2716G>C (p.Glu906Gln) c.2359G>C (p.Glu787Gln) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166272647C>T | CA349073894 | SCN1A-AS1,SCN9A | c.3103G>A (p.Glu1035Lys) c.103G>A (p.Glu35Lys) c.3070G>A (p.Glu1024Lys) c.1877-149G>A n.870-4441C>T c.2716G>A (p.Glu906Lys) c.2359G>A (p.Glu787Lys) | gnomAD v4 COSMIC COSMIC |
2 | g.166272648C>A | CA349073903 | SCN1A-AS1,SCN9A | c.3102G>T (p.Lys1034Asn) c.102G>T (p.Lys34Asn) c.3069G>T (p.Lys1023Asn) c.1877-150G>T n.870-4440C>A c.2715G>T (p.Lys905Asn) c.2358G>T (p.Lys786Asn) | |
2 | g.166272648C= | CA1304962797 | SCN1A-AS1,SCN9A | c.3102G= (p.Lys1034=) c.102G= (p.Lys34=) c.3069G= (p.Lys1023=) c.1877-150G= n.870-4440C= c.2715G= (p.Lys905=) c.2358G= (p.Lys786=) | |
2 | g.166272648C>G | CA349073906 | SCN1A-AS1,SCN9A | c.3102G>C (p.Lys1034Asn) c.102G>C (p.Lys34Asn) c.3069G>C (p.Lys1023Asn) c.1877-150G>C n.870-4440C>G c.2715G>C (p.Lys905Asn) c.2358G>C (p.Lys786Asn) | |
2 | g.166272648C>T | CA1944137 | SCN1A-AS1,SCN9A | c.3102G>A (p.Lys1034=) c.102G>A (p.Lys34=) c.3069G>A (p.Lys1023=) c.1877-150G>A n.870-4440C>T c.2715G>A (p.Lys905=) c.2358G>A (p.Lys786=) | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.166272649T>A | CA349073908 | SCN1A-AS1,SCN9A | c.3101A>T (p.Lys1034Met) c.101A>T (p.Lys34Met) c.3068A>T (p.Lys1023Met) c.1877-151A>T n.870-4439T>A c.2714A>T (p.Lys905Met) c.2357A>T (p.Lys786Met) | dbSNP |
2 | g.166272649T>C | CA349073909 | SCN1A-AS1,SCN9A | c.3101A>G (p.Lys1034Arg) c.101A>G (p.Lys34Arg) c.3068A>G (p.Lys1023Arg) c.1877-151A>G n.870-4439T>C c.2714A>G (p.Lys905Arg) c.2357A>G (p.Lys786Arg) | |
2 | g.166272649T>G | CA349073910 | SCN1A-AS1,SCN9A | c.3101A>C (p.Lys1034Thr) c.101A>C (p.Lys34Thr) c.3068A>C (p.Lys1023Thr) c.1877-151A>C n.870-4439T>G c.2714A>C (p.Lys905Thr) c.2357A>C (p.Lys786Thr) | |
2 | g.166272649T= | CA1304962798 | SCN1A-AS1,SCN9A | c.3101A= (p.Lys1034=) c.101A= (p.Lys34=) c.3068A= (p.Lys1023=) c.1877-151A= n.870-4439T= c.2714A= (p.Lys905=) c.2357A= (p.Lys786=) | |
2 | g.166272650T>A | CA349073911 | SCN1A-AS1,SCN9A | c.3100A>T (p.Lys1034Ter) c.100A>T (p.Lys34Ter) c.3067A>T (p.Lys1023Ter) c.1877-152A>T n.870-4438T>A c.2713A>T (p.Lys905Ter) c.2356A>T (p.Lys786Ter) | dbSNP |
2 | g.166272650T>C | CA349073912 | SCN1A-AS1,SCN9A | c.3100A>G (p.Lys1034Glu) c.100A>G (p.Lys34Glu) c.3067A>G (p.Lys1023Glu) c.1877-152A>G n.870-4438T>C c.2713A>G (p.Lys905Glu) c.2356A>G (p.Lys786Glu) | |
2 | g.166272650T>G | CA349073914 | SCN1A-AS1,SCN9A | c.3100A>C (p.Lys1034Gln) c.100A>C (p.Lys34Gln) c.3067A>C (p.Lys1023Gln) c.1877-152A>C n.870-4438T>G c.2713A>C (p.Lys905Gln) c.2356A>C (p.Lys786Gln) | |
2 | g.166272650T= | CA1304962799 | SCN1A-AS1,SCN9A | c.3100A= (p.Lys1034=) c.100A= (p.Lys34=) c.3067A= (p.Lys1023=) c.1877-152A= n.870-4438T= c.2713A= (p.Lys905=) c.2356A= (p.Lys786=) | |
2 | g.166272651C>A | CA349073916 | SCN1A-AS1,SCN9A | c.3099G>T (p.Lys1033Asn) c.99G>T (p.Lys33Asn) c.3066G>T (p.Lys1022Asn) c.1877-153G>T n.870-4437C>A c.2712G>T (p.Lys904Asn) c.2355G>T (p.Lys785Asn) | |
2 | g.166272651C>G | CA349073918 | SCN1A-AS1,SCN9A | c.3099G>C (p.Lys1033Asn) c.99G>C (p.Lys33Asn) c.3066G>C (p.Lys1022Asn) c.1877-153G>C n.870-4437C>G c.2712G>C (p.Lys904Asn) c.2355G>C (p.Lys785Asn) | |
2 | g.166272651C>T | CA429977880 | SCN1A-AS1,SCN9A | c.3099G>A (p.Lys1033=) c.99G>A (p.Lys33=) c.3066G>A (p.Lys1022=) c.1877-153G>A n.870-4437C>T c.2712G>A (p.Lys904=) c.2355G>A (p.Lys785=) | |
2 | g.166272652T>A | CA349073919 | SCN1A-AS1,SCN9A | c.3098A>T (p.Lys1033Met) c.98A>T (p.Lys33Met) c.3065A>T (p.Lys1022Met) c.1877-154A>T n.870-4436T>A c.2711A>T (p.Lys904Met) c.2354A>T (p.Lys785Met) | |
2 | g.166272652T>C | CA349073920 | SCN1A-AS1,SCN9A | c.3098A>G (p.Lys1033Arg) c.98A>G (p.Lys33Arg) c.3065A>G (p.Lys1022Arg) c.1877-154A>G n.870-4436T>C c.2711A>G (p.Lys904Arg) c.2354A>G (p.Lys785Arg) | ClinVar |
2 | g.166272652T>G | CA349073922 | SCN1A-AS1,SCN9A | c.3098A>C (p.Lys1033Thr) c.98A>C (p.Lys33Thr) c.3065A>C (p.Lys1022Thr) c.1877-154A>C n.870-4436T>G c.2711A>C (p.Lys904Thr) c.2354A>C (p.Lys785Thr) | |
2 | g.166272653T>A | CA349073926 | SCN1A-AS1,SCN9A | c.3097A>T (p.Lys1033Ter) c.97A>T (p.Lys33Ter) c.3064A>T (p.Lys1022Ter) c.1877-155A>T n.870-4435T>A c.2710A>T (p.Lys904Ter) c.2353A>T (p.Lys785Ter) | dbSNP |
2 | g.166272653T>C | CA349073927 | SCN1A-AS1,SCN9A | c.3097A>G (p.Lys1033Glu) c.97A>G (p.Lys33Glu) c.3064A>G (p.Lys1022Glu) c.1877-155A>G n.870-4435T>C c.2710A>G (p.Lys904Glu) c.2353A>G (p.Lys785Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166272653T>G | CA349073924 | SCN1A-AS1,SCN9A | c.3097A>C (p.Lys1033Gln) c.97A>C (p.Lys33Gln) c.3064A>C (p.Lys1022Gln) c.1877-155A>C n.870-4435T>G c.2710A>C (p.Lys904Gln) c.2353A>C (p.Lys785Gln) | |
2 | g.166272653T= | CA1304962800 | SCN1A-AS1,SCN9A | c.3097A= (p.Lys1033=) c.97A= (p.Lys33=) c.3064A= (p.Lys1022=) c.1877-155A= n.870-4435T= c.2710A= (p.Lys904=) c.2353A= (p.Lys785=) | |
2 | g.166272654del | CA2573133701 | SCN1A-AS1,SCN9A | c.3096del (p.Lys1033ArgfsTer14) c.96del (p.Lys33ArgfsTer14) c.3063del (p.Lys1022ArgfsTer14) c.1877-156del n.870-4434del c.2709del (p.Lys904ArgfsTer14) c.2352del (p.Lys785ArgfsTer14) | ClinVar dbSNP |
2 | g.166272654A>C | CA429977885 | SCN1A-AS1,SCN9A | c.3096T>G (p.Thr1032=) c.96T>G (p.Thr32=) c.3063T>G (p.Thr1021=) c.1877-156T>G n.870-4434A>C c.2709T>G (p.Thr903=) c.2352T>G (p.Thr784=) | ClinVar |
2 | g.166272654A>G | CA429977886 | SCN1A-AS1,SCN9A | c.3096T>C (p.Thr1032=) c.96T>C (p.Thr32=) c.3063T>C (p.Thr1021=) c.1877-156T>C n.870-4434A>G c.2709T>C (p.Thr903=) c.2352T>C (p.Thr784=) | |
2 | g.166272654A>T | CA429977887 | SCN1A-AS1,SCN9A | c.3096T>A (p.Thr1032=) c.96T>A (p.Thr32=) c.3063T>A (p.Thr1021=) c.1877-156T>A n.870-4434A>T c.2709T>A (p.Thr903=) c.2352T>A (p.Thr784=) | |
2 | g.166272655G>A | CA349073928 | SCN1A-AS1,SCN9A | c.3095C>T (p.Thr1032Ile) c.95C>T (p.Thr32Ile) c.3062C>T (p.Thr1021Ile) c.1877-157C>T n.870-4433G>A c.2708C>T (p.Thr903Ile) c.2351C>T (p.Thr784Ile) | gnomAD v4 |
2 | g.166272655G>C | CA349073930 | SCN1A-AS1,SCN9A | c.3095C>G (p.Thr1032Ser) c.95C>G (p.Thr32Ser) c.3062C>G (p.Thr1021Ser) c.1877-157C>G n.870-4433G>C c.2708C>G (p.Thr903Ser) c.2351C>G (p.Thr784Ser) | gnomAD v4 |
2 | g.166272655G>T | CA349073931 | SCN1A-AS1,SCN9A | c.3095C>A (p.Thr1032Asn) c.95C>A (p.Thr32Asn) c.3062C>A (p.Thr1021Asn) c.1877-157C>A n.870-4433G>T c.2708C>A (p.Thr903Asn) c.2351C>A (p.Thr784Asn) | |
2 | g.166272656T>A | CA349073933 | SCN1A-AS1,SCN9A | c.3094A>T (p.Thr1032Ser) c.94A>T (p.Thr32Ser) c.3061A>T (p.Thr1021Ser) c.1877-158A>T n.870-4432T>A c.2707A>T (p.Thr903Ser) c.2350A>T (p.Thr784Ser) | gnomAD v4 |
2 | g.166272656T>C | CA349073935 | SCN1A-AS1,SCN9A | c.3094A>G (p.Thr1032Ala) c.94A>G (p.Thr32Ala) c.3061A>G (p.Thr1021Ala) c.1877-158A>G n.870-4432T>C c.2707A>G (p.Thr903Ala) c.2350A>G (p.Thr784Ala) | |
2 | g.166272656T>G | CA349073937 | SCN1A-AS1,SCN9A | c.3094A>C (p.Thr1032Pro) c.94A>C (p.Thr32Pro) c.3061A>C (p.Thr1021Pro) c.1877-158A>C n.870-4432T>G c.2707A>C (p.Thr903Pro) c.2350A>C (p.Thr784Pro) | |
2 | g.166272657A>C | CA349073941 | SCN1A-AS1,SCN9A | c.3093T>G (p.Asn1031Lys) c.93T>G (p.Asn31Lys) c.3060T>G (p.Asn1020Lys) c.1877-159T>G n.870-4431A>C c.2706T>G (p.Asn902Lys) c.2349T>G (p.Asn783Lys) | |
2 | g.166272657A>G | CA429977889 | SCN1A-AS1,SCN9A | c.3093T>C (p.Asn1031=) c.93T>C (p.Asn31=) c.3060T>C (p.Asn1020=) c.1877-159T>C n.870-4431A>G c.2706T>C (p.Asn902=) c.2349T>C (p.Asn783=) | |
2 | g.166272657A>T | CA349073939 | SCN1A-AS1,SCN9A | c.3093T>A (p.Asn1031Lys) c.93T>A (p.Asn31Lys) c.3060T>A (p.Asn1020Lys) c.1877-159T>A n.870-4431A>T c.2706T>A (p.Asn902Lys) c.2349T>A (p.Asn783Lys) | |
2 | g.166272658T>A | CA349073943 | SCN1A-AS1,SCN9A | c.3092A>T (p.Asn1031Ile) c.92A>T (p.Asn31Ile) c.3059A>T (p.Asn1020Ile) c.1877-160A>T n.870-4430T>A c.2705A>T (p.Asn902Ile) c.2348A>T (p.Asn783Ile) | |
2 | g.166272658T>C | CA349073945 | SCN1A-AS1,SCN9A | c.3092A>G (p.Asn1031Ser) c.92A>G (p.Asn31Ser) c.3059A>G (p.Asn1020Ser) c.1877-160A>G n.870-4430T>C c.2705A>G (p.Asn902Ser) c.2348A>G (p.Asn783Ser) | |
2 | g.166272658T>G | CA349073947 | SCN1A-AS1,SCN9A | c.3092A>C (p.Asn1031Thr) c.92A>C (p.Asn31Thr) c.3059A>C (p.Asn1020Thr) c.1877-160A>C n.870-4430T>G c.2705A>C (p.Asn902Thr) c.2348A>C (p.Asn783Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166272658T= | CA1304962801 | SCN1A-AS1,SCN9A | c.3092A= (p.Asn1031=) c.92A= (p.Asn31=) c.3059A= (p.Asn1020=) c.1877-160A= n.870-4430T= c.2705A= (p.Asn902=) c.2348A= (p.Asn783=) | |
2 | g.166272659T>A | CA349073949 | SCN1A-AS1,SCN9A | c.3091A>T (p.Asn1031Tyr) c.91A>T (p.Asn31Tyr) c.3058A>T (p.Asn1020Tyr) c.1877-161A>T n.870-4429T>A c.2704A>T (p.Asn902Tyr) c.2347A>T (p.Asn783Tyr) | |
2 | g.166272659T>C | CA349073951 | SCN1A-AS1,SCN9A | c.3091A>G (p.Asn1031Asp) c.91A>G (p.Asn31Asp) c.3058A>G (p.Asn1020Asp) c.1877-161A>G n.870-4429T>C c.2704A>G (p.Asn902Asp) c.2347A>G (p.Asn783Asp) | |
2 | g.166272659T>G | CA349073953 | SCN1A-AS1,SCN9A | c.3091A>C (p.Asn1031His) c.91A>C (p.Asn31His) c.3058A>C (p.Asn1020His) c.1877-161A>C n.870-4429T>G c.2704A>C (p.Asn902His) c.2347A>C (p.Asn783His) | COSMIC COSMIC |
2 | g.166272660C>A | CA429977894 | SCN1A-AS1,SCN9A | c.3090G>T (p.Leu1030=) c.90G>T (p.Leu30=) c.3057G>T (p.Leu1019=) c.1877-162G>T n.870-4428C>A c.2703G>T (p.Leu901=) c.2346G>T (p.Leu782=) | |
2 | g.166272660C>G | CA429977896 | SCN1A-AS1,SCN9A | c.3090G>C (p.Leu1030=) c.90G>C (p.Leu30=) c.3057G>C (p.Leu1019=) c.1877-162G>C n.870-4428C>G c.2703G>C (p.Leu901=) c.2346G>C (p.Leu782=) | |
2 | g.166272660C>T | CA429977897 | SCN1A-AS1,SCN9A | c.3090G>A (p.Leu1030=) c.90G>A (p.Leu30=) c.3057G>A (p.Leu1019=) c.1877-162G>A n.870-4428C>T c.2703G>A (p.Leu901=) c.2346G>A (p.Leu782=) | COSMIC COSMIC |
2 | g.166272661A= | CA1304962802 | SCN1A-AS1,SCN9A | c.3089T= (p.Leu1030=) c.89T= (p.Leu30=) c.3056T= (p.Leu1019=) c.1877-163T= n.870-4427A= c.2702T= (p.Leu901=) c.2345T= (p.Leu782=) | |
2 | g.166272661A>C | CA349073955 | SCN1A-AS1,SCN9A | c.3089T>G (p.Leu1030Arg) c.89T>G (p.Leu30Arg) c.3056T>G (p.Leu1019Arg) c.1877-163T>G n.870-4427A>C c.2702T>G (p.Leu901Arg) c.2345T>G (p.Leu782Arg) | |
2 | g.166272661A>G | CA1944138 | SCN1A-AS1,SCN9A | c.3089T>C (p.Leu1030Pro) c.89T>C (p.Leu30Pro) c.3056T>C (p.Leu1019Pro) c.1877-163T>C n.870-4427A>G c.2702T>C (p.Leu901Pro) c.2345T>C (p.Leu782Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166272661A>T | CA349073957 | SCN1A-AS1,SCN9A | c.3089T>A (p.Leu1030Gln) c.89T>A (p.Leu30Gln) c.3056T>A (p.Leu1019Gln) c.1877-163T>A n.870-4427A>T c.2702T>A (p.Leu901Gln) c.2345T>A (p.Leu782Gln) | |
2 | g.166272662G>A | CA59791558 | SCN1A-AS1,SCN9A | c.3088C>T (p.Leu1030=) c.88C>T (p.Leu30=) c.3055C>T (p.Leu1019=) c.1877-164C>T n.870-4426G>A c.2701C>T (p.Leu901=) c.2344C>T (p.Leu782=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166272662G>C | CA349073960 | SCN1A-AS1,SCN9A | c.3088C>G (p.Leu1030Val) c.88C>G (p.Leu30Val) c.3055C>G (p.Leu1019Val) c.1877-164C>G n.870-4426G>C c.2701C>G (p.Leu901Val) c.2344C>G (p.Leu782Val) | |
2 | g.166272662G= | CA1304962803 | SCN1A-AS1,SCN9A | c.3088C= (p.Leu1030=) c.88C= (p.Leu30=) c.3055C= (p.Leu1019=) c.1877-164C= n.870-4426G= c.2701C= (p.Leu901=) c.2344C= (p.Leu782=) | |
2 | g.166272662G>T | CA349073961 | SCN1A-AS1,SCN9A | c.3088C>A (p.Leu1030Met) c.88C>A (p.Leu30Met) c.3055C>A (p.Leu1019Met) c.1877-164C>A n.870-4426G>T c.2701C>A (p.Leu901Met) c.2344C>A (p.Leu782Met) | |
2 | g.166272663A>C | CA349073963 | SCN1A-AS1,SCN9A | c.3087T>G (p.Asp1029Glu) c.87T>G (p.Asp29Glu) c.3054T>G (p.Asp1018Glu) c.1877-165T>G n.870-4425A>C c.2700T>G (p.Asp900Glu) c.2343T>G (p.Asp781Glu) | |
2 | g.166272663A>G | CA429977899 | SCN1A-AS1,SCN9A | c.3087T>C (p.Asp1029=) c.87T>C (p.Asp29=) c.3054T>C (p.Asp1018=) c.1877-165T>C n.870-4425A>G c.2700T>C (p.Asp900=) c.2343T>C (p.Asp781=) | |
2 | g.166272663A>T | CA349073965 | SCN1A-AS1,SCN9A | c.3087T>A (p.Asp1029Glu) c.87T>A (p.Asp29Glu) c.3054T>A (p.Asp1018Glu) c.1877-165T>A n.870-4425A>T c.2700T>A (p.Asp900Glu) c.2343T>A (p.Asp781Glu) | |
2 | g.166272664T>A | CA349073966 | SCN1A-AS1,SCN9A | c.3086A>T (p.Asp1029Val) c.86A>T (p.Asp29Val) c.3053A>T (p.Asp1018Val) c.1877-166A>T n.870-4424T>A c.2699A>T (p.Asp900Val) c.2342A>T (p.Asp781Val) | |
2 | g.166272664T>C | CA349073967 | SCN1A-AS1,SCN9A | c.3086A>G (p.Asp1029Gly) c.86A>G (p.Asp29Gly) c.3053A>G (p.Asp1018Gly) c.1877-166A>G n.870-4424T>C c.2699A>G (p.Asp900Gly) c.2342A>G (p.Asp781Gly) | |
2 | g.166272664T>G | CA349073968 | SCN1A-AS1,SCN9A | c.3086A>C (p.Asp1029Ala) c.86A>C (p.Asp29Ala) c.3053A>C (p.Asp1018Ala) c.1877-166A>C n.870-4424T>G c.2699A>C (p.Asp900Ala) c.2342A>C (p.Asp781Ala) | |
2 | g.166272665C>A | CA349073971 | SCN1A-AS1,SCN9A | c.3085G>T (p.Asp1029Tyr) c.85G>T (p.Asp29Tyr) c.3052G>T (p.Asp1018Tyr) c.1877-167G>T n.870-4423C>A c.2698G>T (p.Asp900Tyr) c.2341G>T (p.Asp781Tyr) | ClinVar dbSNP |
2 | g.166272665C>G | CA349073973 | SCN1A-AS1,SCN9A | c.3085G>C (p.Asp1029His) c.85G>C (p.Asp29His) c.3052G>C (p.Asp1018His) c.1877-167G>C n.870-4423C>G c.2698G>C (p.Asp900His) c.2341G>C (p.Asp781His) | |
2 | g.166272665C>T | CA349073974 | SCN1A-AS1,SCN9A | c.3085G>A (p.Asp1029Asn) c.85G>A (p.Asp29Asn) c.3052G>A (p.Asp1018Asn) c.1877-167G>A n.870-4423C>T c.2698G>A (p.Asp900Asn) c.2341G>A (p.Asp781Asn) | gnomAD v4 |
2 | g.166272666T>A | CA349073975 | SCN1A-AS1,SCN9A | c.3084A>T (p.Glu1028Asp) c.84A>T (p.Glu28Asp) c.3051A>T (p.Glu1017Asp) c.1877-168A>T n.870-4422T>A c.2697A>T (p.Glu899Asp) c.2340A>T (p.Glu780Asp) | |
2 | g.166272666T>C | CA429977900 | SCN1A-AS1,SCN9A | c.3084A>G (p.Glu1028=) c.84A>G (p.Glu28=) c.3051A>G (p.Glu1017=) c.1877-168A>G n.870-4422T>C c.2697A>G (p.Glu899=) c.2340A>G (p.Glu780=) | ClinVar gnomAD v4 |
2 | g.166272666T>G | CA349073977 | SCN1A-AS1,SCN9A | c.3084A>C (p.Glu1028Asp) c.84A>C (p.Glu28Asp) c.3051A>C (p.Glu1017Asp) c.1877-168A>C n.870-4422T>G c.2697A>C (p.Glu899Asp) c.2340A>C (p.Glu780Asp) | gnomAD v4 |
2 | g.166272667T>A | CA349073980 | SCN1A-AS1,SCN9A | c.3083A>T (p.Glu1028Val) c.83A>T (p.Glu28Val) c.3050A>T (p.Glu1017Val) c.1877-169A>T n.870-4421T>A c.2696A>T (p.Glu899Val) c.2339A>T (p.Glu780Val) | |
2 | g.166272667T>C | CA349073982 | SCN1A-AS1,SCN9A | c.3083A>G (p.Glu1028Gly) c.83A>G (p.Glu28Gly) c.3050A>G (p.Glu1017Gly) c.1877-169A>G n.870-4421T>C c.2696A>G (p.Glu899Gly) c.2339A>G (p.Glu780Gly) | |
2 | g.166272667T>G | CA349073979 | SCN1A-AS1,SCN9A | c.3083A>C (p.Glu1028Ala) c.83A>C (p.Glu28Ala) c.3050A>C (p.Glu1017Ala) c.1877-169A>C n.870-4421T>G c.2696A>C (p.Glu899Ala) c.2339A>C (p.Glu780Ala) | |
2 | g.166272668C>A | CA349073984 | SCN1A-AS1,SCN9A | c.3082G>T (p.Glu1028Ter) c.82G>T (p.Glu28Ter) c.3049G>T (p.Glu1017Ter) c.1877-170G>T n.870-4420C>A c.2695G>T (p.Glu899Ter) c.2338G>T (p.Glu780Ter) | dbSNP |
2 | g.166272668C= | CA1304962804 | SCN1A-AS1,SCN9A | c.3082G= (p.Glu1028=) c.82G= (p.Glu28=) c.3049G= (p.Glu1017=) c.1877-170G= n.870-4420C= c.2695G= (p.Glu899=) c.2338G= (p.Glu780=) | |
2 | g.166272668C>G | CA349073991 | SCN1A-AS1,SCN9A | c.3082G>C (p.Glu1028Gln) c.82G>C (p.Glu28Gln) c.3049G>C (p.Glu1017Gln) c.1877-170G>C n.870-4420C>G c.2695G>C (p.Glu899Gln) c.2338G>C (p.Glu780Gln) | |
2 | g.166272668C>T | CA349073986 | SCN1A-AS1,SCN9A | c.3082G>A (p.Glu1028Lys) c.82G>A (p.Glu28Lys) c.3049G>A (p.Glu1017Lys) c.1877-170G>A n.870-4420C>T c.2695G>A (p.Glu899Lys) c.2338G>A (p.Glu780Lys) | ClinVar |
2 | g.166272669T>A | CA429977905 | SCN1A-AS1,SCN9A | c.3081A>T (p.Ala1027=) c.81A>T (p.Ala27=) c.3048A>T (p.Ala1016=) c.1877-171A>T n.870-4419T>A c.2694A>T (p.Ala898=) c.2337A>T (p.Ala779=) | |
2 | g.166272669T>C | CA429977907 | SCN1A-AS1,SCN9A | c.3081A>G (p.Ala1027=) c.81A>G (p.Ala27=) c.3048A>G (p.Ala1016=) c.1877-171A>G n.870-4419T>C c.2694A>G (p.Ala898=) c.2337A>G (p.Ala779=) | COSMIC |
2 | g.166272669T>G | CA1944139 | SCN1A-AS1,SCN9A | c.3081A>C (p.Ala1027=) c.81A>C (p.Ala27=) c.3048A>C (p.Ala1016=) c.1877-171A>C n.870-4419T>G c.2694A>C (p.Ala898=) c.2337A>C (p.Ala779=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166272669T= | CA1304962805 | SCN1A-AS1,SCN9A | c.3081A= (p.Ala1027=) c.81A= (p.Ala27=) c.3048A= (p.Ala1016=) c.1877-171A= n.870-4419T= c.2694A= (p.Ala898=) c.2337A= (p.Ala779=) | |
2 | g.166272670G>A | CA349074002 | SCN1A-AS1,SCN9A | c.3080C>T (p.Ala1027Val) c.80C>T (p.Ala27Val) c.3047C>T (p.Ala1016Val) c.1877-172C>T n.870-4418G>A c.2693C>T (p.Ala898Val) c.2336C>T (p.Ala779Val) | ClinVar dbSNP gnomAD v4 |
2 | g.166272670G>C | CA349073996 | SCN1A-AS1,SCN9A | c.3080C>G (p.Ala1027Gly) c.80C>G (p.Ala27Gly) c.3047C>G (p.Ala1016Gly) c.1877-172C>G n.870-4418G>C c.2693C>G (p.Ala898Gly) c.2336C>G (p.Ala779Gly) | ClinVar dbSNP gnomAD v4 |
2 | g.166272670G= | CA1304962806 | SCN1A-AS1,SCN9A | c.3080C= (p.Ala1027=) c.80C= (p.Ala27=) c.3047C= (p.Ala1016=) c.1877-172C= n.870-4418G= c.2693C= (p.Ala898=) c.2336C= (p.Ala779=) | |
2 | g.166272670G>T | CA349073999 | SCN1A-AS1,SCN9A | c.3080C>A (p.Ala1027Glu) c.80C>A (p.Ala27Glu) c.3047C>A (p.Ala1016Glu) c.1877-172C>A n.870-4418G>T c.2693C>A (p.Ala898Glu) c.2336C>A (p.Ala779Glu) | ClinVar dbSNP |
2 | g.166272671C>A | CA349074004 | SCN1A-AS1,SCN9A | c.3079G>T (p.Ala1027Ser) c.79G>T (p.Ala27Ser) c.3046G>T (p.Ala1016Ser) c.1877-173G>T n.870-4417C>A c.2692G>T (p.Ala898Ser) c.2335G>T (p.Ala779Ser) | |
2 | g.166272671C>G | CA349074009 | SCN1A-AS1,SCN9A | c.3079G>C (p.Ala1027Pro) c.79G>C (p.Ala27Pro) c.3046G>C (p.Ala1016Pro) c.1877-173G>C n.870-4417C>G c.2692G>C (p.Ala898Pro) c.2335G>C (p.Ala779Pro) | |
2 | g.166272671C>T | CA349074012 | SCN1A-AS1,SCN9A | c.3079G>A (p.Ala1027Thr) c.79G>A (p.Ala27Thr) c.3046G>A (p.Ala1016Thr) c.1877-173G>A n.870-4417C>T c.2692G>A (p.Ala898Thr) c.2335G>A (p.Ala779Thr) | |
2 | g.166272672T>A | CA349074014 | SCN1A-AS1,SCN9A | c.3078A>T (p.Gln1026His) c.78A>T (p.Gln26His) c.3045A>T (p.Gln1015His) c.1877-174A>T n.870-4416T>A c.2691A>T (p.Gln897His) c.2334A>T (p.Gln778His) | |
2 | g.166272672T>C | CA429977911 | SCN1A-AS1,SCN9A | c.3078A>G (p.Gln1026=) c.78A>G (p.Gln26=) c.3045A>G (p.Gln1015=) c.1877-174A>G n.870-4416T>C c.2691A>G (p.Gln897=) c.2334A>G (p.Gln778=) | |
2 | g.166272672T>G | CA349074015 | SCN1A-AS1,SCN9A | c.3078A>C (p.Gln1026His) c.78A>C (p.Gln26His) c.3045A>C (p.Gln1015His) c.1877-174A>C n.870-4416T>G c.2691A>C (p.Gln897His) c.2334A>C (p.Gln778His) | |
2 | g.166272673T>A | CA349074017 | SCN1A-AS1,SCN9A | c.3077A>T (p.Gln1026Leu) c.77A>T (p.Gln26Leu) c.3044A>T (p.Gln1015Leu) c.1877-175A>T n.870-4415T>A c.2690A>T (p.Gln897Leu) c.2333A>T (p.Gln778Leu) | |
2 | g.166272673T>C | CA349074020 | SCN1A-AS1,SCN9A | c.3077A>G (p.Gln1026Arg) c.77A>G (p.Gln26Arg) c.3044A>G (p.Gln1015Arg) c.1877-175A>G n.870-4415T>C c.2690A>G (p.Gln897Arg) c.2333A>G (p.Gln778Arg) | |
2 | g.166272673T>G | CA349074021 | SCN1A-AS1,SCN9A | c.3077A>C (p.Gln1026Pro) c.77A>C (p.Gln26Pro) c.3044A>C (p.Gln1015Pro) c.1877-175A>C n.870-4415T>G c.2690A>C (p.Gln897Pro) c.2333A>C (p.Gln778Pro) | ClinVar gnomAD v4 |
2 | g.166272674G>A | CA349074025 | SCN1A-AS1,SCN9A | c.3076C>T (p.Gln1026Ter) c.76C>T (p.Gln26Ter) c.3043C>T (p.Gln1015Ter) c.1877-176C>T n.870-4414G>A c.2689C>T (p.Gln897Ter) c.2332C>T (p.Gln778Ter) | dbSNP |
2 | g.166272674G>C | CA349074028 | SCN1A-AS1,SCN9A | c.3076C>G (p.Gln1026Glu) c.76C>G (p.Gln26Glu) c.3043C>G (p.Gln1015Glu) c.1877-176C>G n.870-4414G>C c.2689C>G (p.Gln897Glu) c.2332C>G (p.Gln778Glu) | gnomAD v4 |
2 | g.166272674G= | CA1304962807 | SCN1A-AS1,SCN9A | c.3076C= (p.Gln1026=) c.76C= (p.Gln26=) c.3043C= (p.Gln1015=) c.1877-176C= n.870-4414G= c.2689C= (p.Gln897=) c.2332C= (p.Gln778=) | |
2 | g.166272674G>T | CA349074032 | SCN1A-AS1,SCN9A | c.3076C>A (p.Gln1026Lys) c.76C>A (p.Gln26Lys) c.3043C>A (p.Gln1015Lys) c.1877-176C>A n.870-4414G>T c.2689C>A (p.Gln897Lys) c.2332C>A (p.Gln778Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166272675T>A | CA1944140 | SCN1A-AS1,SCN9A | c.3075A>T (p.Arg1025Ser) c.75A>T (p.Arg25Ser) c.3042A>T (p.Arg1014Ser) c.1877-177A>T n.870-4413T>A c.2688A>T (p.Arg896Ser) c.2331A>T (p.Arg777Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166272675T>C | CA429977921 | SCN1A-AS1,SCN9A | c.3075A>G (p.Arg1025=) c.75A>G (p.Arg25=) c.3042A>G (p.Arg1014=) c.1877-177A>G n.870-4413T>C c.2688A>G (p.Arg896=) c.2331A>G (p.Arg777=) | |
2 | g.166272675T>G | CA349074038 | SCN1A-AS1,SCN9A | c.3075A>C (p.Arg1025Ser) c.75A>C (p.Arg25Ser) c.3042A>C (p.Arg1014Ser) c.1877-177A>C n.870-4413T>G c.2688A>C (p.Arg896Ser) c.2331A>C (p.Arg777Ser) | |
2 | g.166272675T= | CA1304962808 | SCN1A-AS1,SCN9A | c.3075A= (p.Arg1025=) c.75A= (p.Arg25=) c.3042A= (p.Arg1014=) c.1877-177A= n.870-4413T= c.2688A= (p.Arg896=) c.2331A= (p.Arg777=) | |
2 | g.166272676C>A | CA1944141 | SCN1A-AS1,SCN9A | c.3074G>T (p.Arg1025Ile) c.74G>T (p.Arg25Ile) c.3041G>T (p.Arg1014Ile) c.1877-178G>T n.870-4412C>A c.2687G>T (p.Arg896Ile) c.2330G>T (p.Arg777Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272676C= | CA1304962809 | SCN1A-AS1,SCN9A | c.3074G= (p.Arg1025=) c.74G= (p.Arg25=) c.3041G= (p.Arg1014=) c.1877-178G= n.870-4412C= c.2687G= (p.Arg896=) c.2330G= (p.Arg777=) | |
2 | g.166272676C>G | CA349074043 | SCN1A-AS1,SCN9A | c.3074G>C (p.Arg1025Thr) c.74G>C (p.Arg25Thr) c.3041G>C (p.Arg1014Thr) c.1877-178G>C n.870-4412C>G c.2687G>C (p.Arg896Thr) c.2330G>C (p.Arg777Thr) | |
2 | g.166272676C>T | CA349074046 | SCN1A-AS1,SCN9A | c.3074G>A (p.Arg1025Lys) c.74G>A (p.Arg25Lys) c.3041G>A (p.Arg1014Lys) c.1877-178G>A n.870-4412C>T c.2687G>A (p.Arg896Lys) c.2330G>A (p.Arg777Lys) | |
2 | g.166272677T>A | CA349074049 | SCN1A-AS1,SCN9A | c.3073A>T (p.Arg1025Ter) c.73A>T (p.Arg25Ter) c.3040A>T (p.Arg1014Ter) c.1877-179A>T n.870-4411T>A c.2686A>T (p.Arg896Ter) c.2329A>T (p.Arg777Ter) | dbSNP |
2 | g.166272677T>C | CA349074052 | SCN1A-AS1,SCN9A | c.3073A>G (p.Arg1025Gly) c.73A>G (p.Arg25Gly) c.3040A>G (p.Arg1014Gly) c.1877-179A>G n.870-4411T>C c.2686A>G (p.Arg896Gly) c.2329A>G (p.Arg777Gly) | |
2 | g.166272677T>G | CA429977922 | SCN1A-AS1,SCN9A | c.3073A>C (p.Arg1025=) c.73A>C (p.Arg25=) c.3040A>C (p.Arg1014=) c.1877-179A>C n.870-4411T>G c.2686A>C (p.Arg896=) c.2329A>C (p.Arg777=) | |
2 | g.166272677T= | CA1304962810 | SCN1A-AS1,SCN9A | c.3073A= (p.Arg1025=) c.73A= (p.Arg25=) c.3040A= (p.Arg1014=) c.1877-179A= n.870-4411T= c.2686A= (p.Arg896=) c.2329A= (p.Arg777=) | |
2 | g.166272678T>A | CA429977925 | SCN1A-AS1,SCN9A | c.3072A>T (p.Ile1024=) c.72A>T (p.Ile24=) c.3039A>T (p.Ile1013=) c.1877-180A>T n.870-4410T>A c.2685A>T (p.Ile895=) c.2328A>T (p.Ile776=) | |
2 | g.166272678T>C | CA1944142 | SCN1A-AS1,SCN9A | c.3072A>G (p.Ile1024Met) c.72A>G (p.Ile24Met) c.3039A>G (p.Ile1013Met) c.1877-180A>G n.870-4410T>C c.2685A>G (p.Ile895Met) c.2328A>G (p.Ile776Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272678T>G | CA429977926 | SCN1A-AS1,SCN9A | c.3072A>C (p.Ile1024=) c.72A>C (p.Ile24=) c.3039A>C (p.Ile1013=) c.1877-180A>C n.870-4410T>G c.2685A>C (p.Ile895=) c.2328A>C (p.Ile776=) | |
2 | g.166272678T= | CA1304962811 | SCN1A-AS1,SCN9A | c.3072A= (p.Ile1024=) c.72A= (p.Ile24=) c.3039A= (p.Ile1013=) c.1877-180A= n.870-4410T= c.2685A= (p.Ile895=) c.2328A= (p.Ile776=) | |
2 | g.166272679A>C | CA349074057 | SCN1A-AS1,SCN9A | c.3071T>G (p.Ile1024Arg) c.71T>G (p.Ile24Arg) c.3038T>G (p.Ile1013Arg) c.1877-181T>G n.870-4409A>C c.2684T>G (p.Ile895Arg) c.2327T>G (p.Ile776Arg) | |
2 | g.166272679A>G | CA349074059 | SCN1A-AS1,SCN9A | c.3071T>C (p.Ile1024Thr) c.71T>C (p.Ile24Thr) c.3038T>C (p.Ile1013Thr) c.1877-181T>C n.870-4409A>G c.2684T>C (p.Ile895Thr) c.2327T>C (p.Ile776Thr) | |
2 | g.166272679A>T | CA349074061 | SCN1A-AS1,SCN9A | c.3071T>A (p.Ile1024Lys) c.71T>A (p.Ile24Lys) c.3038T>A (p.Ile1013Lys) c.1877-181T>A n.870-4409A>T c.2684T>A (p.Ile895Lys) c.2327T>A (p.Ile776Lys) | |
2 | g.166272680T>A | CA349074066 | SCN1A-AS1,SCN9A | c.3070A>T (p.Ile1024Leu) c.70A>T (p.Ile24Leu) c.3037A>T (p.Ile1013Leu) c.1877-182A>T n.870-4408T>A c.2683A>T (p.Ile895Leu) c.2326A>T (p.Ile776Leu) | |
2 | g.166272680T>C | CA349074068 | SCN1A-AS1,SCN9A | c.3070A>G (p.Ile1024Val) c.70A>G (p.Ile24Val) c.3037A>G (p.Ile1013Val) c.1877-182A>G n.870-4408T>C c.2683A>G (p.Ile895Val) c.2326A>G (p.Ile776Val) | |
2 | g.166272680T>G | CA349074072 | SCN1A-AS1,SCN9A | c.3070A>C (p.Ile1024Leu) c.70A>C (p.Ile24Leu) c.3037A>C (p.Ile1013Leu) c.1877-182A>C n.870-4408T>G c.2683A>C (p.Ile895Leu) c.2326A>C (p.Ile776Leu) | dbSNP |
2 | g.166272680T= | CA1304962812 | SCN1A-AS1,SCN9A | c.3070A= (p.Ile1024=) c.70A= (p.Ile24=) c.3037A= (p.Ile1013=) c.1877-182A= n.870-4408T= c.2683A= (p.Ile895=) c.2326A= (p.Ile776=) | |
2 | g.166272681C>A | CA349074076 | SCN1A-AS1,SCN9A | c.3069G>T (p.Glu1023Asp) c.69G>T (p.Glu23Asp) c.3036G>T (p.Glu1012Asp) c.1877-183G>T n.870-4407C>A c.2682G>T (p.Glu894Asp) c.2325G>T (p.Glu775Asp) | |
2 | g.166272681C= | CA1304962813 | SCN1A-AS1,SCN9A | c.3069G= (p.Glu1023=) c.69G= (p.Glu23=) c.3036G= (p.Glu1012=) c.1877-183G= n.870-4407C= c.2682G= (p.Glu894=) c.2325G= (p.Glu775=) | |
2 | g.166272681C>G | CA349074079 | SCN1A-AS1,SCN9A | c.3069G>C (p.Glu1023Asp) c.69G>C (p.Glu23Asp) c.3036G>C (p.Glu1012Asp) c.1877-183G>C n.870-4407C>G c.2682G>C (p.Glu894Asp) c.2325G>C (p.Glu775Asp) | |
2 | g.166272681C>T | CA429977930 | SCN1A-AS1,SCN9A | c.3069G>A (p.Glu1023=) c.69G>A (p.Glu23=) c.3036G>A (p.Glu1012=) c.1877-183G>A n.870-4407C>T c.2682G>A (p.Glu894=) c.2325G>A (p.Glu775=) | dbSNP |
2 | g.166272682T>A | CA349074081 | SCN1A-AS1,SCN9A | c.3068A>T (p.Glu1023Val) c.68A>T (p.Glu23Val) c.3035A>T (p.Glu1012Val) c.1877-184A>T n.870-4406T>A c.2681A>T (p.Glu894Val) c.2324A>T (p.Glu775Val) | |
2 | g.166272682T>C | CA349074082 | SCN1A-AS1,SCN9A | c.3068A>G (p.Glu1023Gly) c.68A>G (p.Glu23Gly) c.3035A>G (p.Glu1012Gly) c.1877-184A>G n.870-4406T>C c.2681A>G (p.Glu894Gly) c.2324A>G (p.Glu775Gly) | |
2 | g.166272682T>G | CA349074083 | SCN1A-AS1,SCN9A | c.3068A>C (p.Glu1023Ala) c.68A>C (p.Glu23Ala) c.3035A>C (p.Glu1012Ala) c.1877-184A>C n.870-4406T>G c.2681A>C (p.Glu894Ala) c.2324A>C (p.Glu775Ala) | |
2 | g.166272683C>A | CA349074087 | SCN1A-AS1,SCN9A | c.3067G>T (p.Glu1023Ter) c.67G>T (p.Glu23Ter) c.3034G>T (p.Glu1012Ter) c.1877-185G>T n.870-4405C>A c.2680G>T (p.Glu894Ter) c.2323G>T (p.Glu775Ter) | dbSNP |
2 | g.166272683C= | CA1304962814 | SCN1A-AS1,SCN9A | c.3067G= (p.Glu1023=) c.67G= (p.Glu23=) c.3034G= (p.Glu1012=) c.1877-185G= n.870-4405C= c.2680G= (p.Glu894=) c.2323G= (p.Glu775=) | |
2 | g.166272683C>G | CA349074090 | SCN1A-AS1,SCN9A | c.3067G>C (p.Glu1023Gln) c.67G>C (p.Glu23Gln) c.3034G>C (p.Glu1012Gln) c.1877-185G>C n.870-4405C>G c.2680G>C (p.Glu894Gln) c.2323G>C (p.Glu775Gln) | |
2 | g.166272683C>T | CA349074094 | SCN1A-AS1,SCN9A | c.3067G>A (p.Glu1023Lys) c.67G>A (p.Glu23Lys) c.3034G>A (p.Glu1012Lys) c.1877-185G>A n.870-4405C>T c.2680G>A (p.Glu894Lys) c.2323G>A (p.Glu775Lys) | |
2 | g.166272684C>A | CA349074096 | SCN1A-AS1,SCN9A | c.3066G>T (p.Arg1022Ser) c.66G>T (p.Arg22Ser) c.3033G>T (p.Arg1011Ser) c.1877-186G>T n.870-4404C>A c.2679G>T (p.Arg893Ser) c.2322G>T (p.Arg774Ser) | |
2 | g.166272684C>G | CA349074099 | SCN1A-AS1,SCN9A | c.3066G>C (p.Arg1022Ser) c.66G>C (p.Arg22Ser) c.3033G>C (p.Arg1011Ser) c.1877-186G>C n.870-4404C>G c.2679G>C (p.Arg893Ser) c.2322G>C (p.Arg774Ser) | |
2 | g.166272684C>T | CA429977931 | SCN1A-AS1,SCN9A | c.3066G>A (p.Arg1022=) c.66G>A (p.Arg22=) c.3033G>A (p.Arg1011=) c.1877-186G>A n.870-4404C>T c.2679G>A (p.Arg893=) c.2322G>A (p.Arg774=) | |
2 | g.166272685C>A | CA349074102 | SCN1A-AS1,SCN9A | c.3065G>T (p.Arg1022Met) c.65G>T (p.Arg22Met) c.3032G>T (p.Arg1011Met) c.1877-187G>T n.870-4403C>A c.2678G>T (p.Arg893Met) c.2321G>T (p.Arg774Met) | ClinVar dbSNP |
2 | g.166272685C>G | CA349074104 | SCN1A-AS1,SCN9A | c.3065G>C (p.Arg1022Thr) c.65G>C (p.Arg22Thr) c.3032G>C (p.Arg1011Thr) c.1877-187G>C n.870-4403C>G c.2678G>C (p.Arg893Thr) c.2321G>C (p.Arg774Thr) | |
2 | g.166272685C>T | CA349074107 | SCN1A-AS1,SCN9A | c.3065G>A (p.Arg1022Lys) c.65G>A (p.Arg22Lys) c.3032G>A (p.Arg1011Lys) c.1877-187G>A n.870-4403C>T c.2678G>A (p.Arg893Lys) c.2321G>A (p.Arg774Lys) | gnomAD v4 |
2 | g.166272686T>A | CA1944143 | SCN1A-AS1,SCN9A | c.3064A>T (p.Arg1022Trp) c.64A>T (p.Arg22Trp) c.3031A>T (p.Arg1011Trp) c.1877-188A>T n.870-4402T>A c.2677A>T (p.Arg893Trp) c.2320A>T (p.Arg774Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166272686T>C | CA349074112 | SCN1A-AS1,SCN9A | c.3064A>G (p.Arg1022Gly) c.64A>G (p.Arg22Gly) c.3031A>G (p.Arg1011Gly) c.1877-188A>G n.870-4402T>C c.2677A>G (p.Arg893Gly) c.2320A>G (p.Arg774Gly) | |
2 | g.166272686T>G | CA429977934 | SCN1A-AS1,SCN9A | c.3064A>C (p.Arg1022=) c.64A>C (p.Arg22=) c.3031A>C (p.Arg1011=) c.1877-188A>C n.870-4402T>G c.2677A>C (p.Arg893=) c.2320A>C (p.Arg774=) | |
2 | g.166272686T= | CA1304962815 | SCN1A-AS1,SCN9A | c.3064A= (p.Arg1022=) c.64A= (p.Arg22=) c.3031A= (p.Arg1011=) c.1877-188A= n.870-4402T= c.2677A= (p.Arg893=) c.2320A= (p.Arg774=) | |
2 | g.166272687G>A | CA429977935 | SCN1A-AS1,SCN9A | c.3063C>T (p.Ser1021=) c.63C>T (p.Ser21=) c.3030C>T (p.Ser1010=) c.1877-189C>T n.870-4401G>A c.2676C>T (p.Ser892=) c.2319C>T (p.Ser773=) | dbSNP |
2 | g.166272687G>C | CA429977937 | SCN1A-AS1,SCN9A | c.3063C>G (p.Ser1021=) c.63C>G (p.Ser21=) c.3030C>G (p.Ser1010=) c.1877-189C>G n.870-4401G>C c.2676C>G (p.Ser892=) c.2319C>G (p.Ser773=) | |
2 | g.166272687G= | CA1304962816 | SCN1A-AS1,SCN9A | c.3063C= (p.Ser1021=) c.63C= (p.Ser21=) c.3030C= (p.Ser1010=) c.1877-189C= n.870-4401G= c.2676C= (p.Ser892=) c.2319C= (p.Ser773=) | |
2 | g.166272687G>T | CA429977939 | SCN1A-AS1,SCN9A | c.3063C>A (p.Ser1021=) c.63C>A (p.Ser21=) c.3030C>A (p.Ser1010=) c.1877-189C>A n.870-4401G>T c.2676C>A (p.Ser892=) c.2319C>A (p.Ser773=) | gnomAD v4 |
2 | g.166272688G>A | CA349074122 | SCN1A-AS1,SCN9A | c.3062C>T (p.Ser1021Phe) c.62C>T (p.Ser21Phe) c.3029C>T (p.Ser1010Phe) c.1877-190C>T n.870-4400G>A c.2675C>T (p.Ser892Phe) c.2318C>T (p.Ser773Phe) | |
2 | g.166272688G>C | CA349074117 | SCN1A-AS1,SCN9A | c.3062C>G (p.Ser1021Cys) c.62C>G (p.Ser21Cys) c.3029C>G (p.Ser1010Cys) c.1877-190C>G n.870-4400G>C c.2675C>G (p.Ser892Cys) c.2318C>G (p.Ser773Cys) | |
2 | g.166272688G>T | CA349074119 | SCN1A-AS1,SCN9A | c.3062C>A (p.Ser1021Tyr) c.62C>A (p.Ser21Tyr) c.3029C>A (p.Ser1010Tyr) c.1877-190C>A n.870-4400G>T c.2675C>A (p.Ser892Tyr) c.2318C>A (p.Ser773Tyr) | |
2 | g.166272689A>C | CA349074126 | SCN1A-AS1,SCN9A | c.3061T>G (p.Ser1021Ala) c.61T>G (p.Ser21Ala) c.3028T>G (p.Ser1010Ala) c.1877-191T>G n.870-4399A>C c.2674T>G (p.Ser892Ala) c.2317T>G (p.Ser773Ala) | |
2 | g.166272689A>G | CA349074127 | SCN1A-AS1,SCN9A | c.3061T>C (p.Ser1021Pro) c.61T>C (p.Ser21Pro) c.3028T>C (p.Ser1010Pro) c.1877-191T>C n.870-4399A>G c.2674T>C (p.Ser892Pro) c.2317T>C (p.Ser773Pro) | |
2 | g.166272689A>T | CA349074128 | SCN1A-AS1,SCN9A | c.3061T>A (p.Ser1021Thr) c.61T>A (p.Ser21Thr) c.3028T>A (p.Ser1010Thr) c.1877-191T>A n.870-4399A>T c.2674T>A (p.Ser892Thr) c.2317T>A (p.Ser773Thr) | COSMIC COSMIC |
2 | g.166272690A= | CA1304962817 | SCN1A-AS1,SCN9A | c.3060T= (p.Ile1020=) c.60T= (p.Ile20=) c.3027T= (p.Ile1009=) c.1877-192T= n.870-4398A= c.2673T= (p.Ile891=) c.2316T= (p.Ile772=) | |
2 | g.166272690A>C | CA349074133 | SCN1A-AS1,SCN9A | c.3060T>G (p.Ile1020Met) c.60T>G (p.Ile20Met) c.3027T>G (p.Ile1009Met) c.1877-192T>G n.870-4398A>C c.2673T>G (p.Ile891Met) c.2316T>G (p.Ile772Met) | |
2 | g.166272690A>G | CA1944144 | SCN1A-AS1,SCN9A | c.3060T>C (p.Ile1020=) c.60T>C (p.Ile20=) c.3027T>C (p.Ile1009=) c.1877-192T>C n.870-4398A>G c.2673T>C (p.Ile891=) c.2316T>C (p.Ile772=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166272690A>T | CA429977942 | SCN1A-AS1,SCN9A | c.3060T>A (p.Ile1020=) c.60T>A (p.Ile20=) c.3027T>A (p.Ile1009=) c.1877-192T>A n.870-4398A>T c.2673T>A (p.Ile891=) c.2316T>A (p.Ile772=) | |
2 | g.166272691A>C | CA349074139 | SCN1A-AS1,SCN9A | c.3059T>G (p.Ile1020Ser) c.59T>G (p.Ile20Ser) c.3026T>G (p.Ile1009Ser) c.1877-193T>G n.870-4397A>C c.2672T>G (p.Ile891Ser) c.2315T>G (p.Ile772Ser) | |
2 | g.166272691A>G | CA349074142 | SCN1A-AS1,SCN9A | c.3059T>C (p.Ile1020Thr) c.59T>C (p.Ile20Thr) c.3026T>C (p.Ile1009Thr) c.1877-193T>C n.870-4397A>G c.2672T>C (p.Ile891Thr) c.2315T>C (p.Ile772Thr) | gnomAD v4 |
2 | g.166272691A>T | CA349074145 | SCN1A-AS1,SCN9A | c.3059T>A (p.Ile1020Asn) c.59T>A (p.Ile20Asn) c.3026T>A (p.Ile1009Asn) c.1877-193T>A n.870-4397A>T c.2672T>A (p.Ile891Asn) c.2315T>A (p.Ile772Asn) | |
2 | g.166272692T>A | CA349074148 | SCN1A-AS1,SCN9A | c.3058A>T (p.Ile1020Phe) c.58A>T (p.Ile20Phe) c.3025A>T (p.Ile1009Phe) c.1877-194A>T n.870-4396T>A c.2671A>T (p.Ile891Phe) c.2314A>T (p.Ile772Phe) | |
2 | g.166272692T>C | CA349074149 | SCN1A-AS1,SCN9A | c.3058A>G (p.Ile1020Val) c.58A>G (p.Ile20Val) c.3025A>G (p.Ile1009Val) c.1877-194A>G n.870-4396T>C c.2671A>G (p.Ile891Val) c.2314A>G (p.Ile772Val) | |
2 | g.166272692T>G | CA349074152 | SCN1A-AS1,SCN9A | c.3058A>C (p.Ile1020Leu) c.58A>C (p.Ile20Leu) c.3025A>C (p.Ile1009Leu) c.1877-194A>C n.870-4396T>G c.2671A>C (p.Ile891Leu) c.2314A>C (p.Ile772Leu) | |
2 | g.166272693C>A | CA349074158 | SCN1A-AS1,SCN9A | c.3057G>T (p.Lys1019Asn) c.57G>T (p.Lys19Asn) c.3024G>T (p.Lys1008Asn) c.1877-195G>T n.870-4395C>A c.2670G>T (p.Lys890Asn) c.2313G>T (p.Lys771Asn) | gnomAD v4 |
2 | g.166272693C= | CA1304962818 | SCN1A-AS1,SCN9A | c.3057G= (p.Lys1019=) c.57G= (p.Lys19=) c.3024G= (p.Lys1008=) c.1877-195G= n.870-4395C= c.2670G= (p.Lys890=) c.2313G= (p.Lys771=) | |
2 | g.166272693C>G | CA349074155 | SCN1A-AS1,SCN9A | c.3057G>C (p.Lys1019Asn) c.57G>C (p.Lys19Asn) c.3024G>C (p.Lys1008Asn) c.1877-195G>C n.870-4395C>G c.2670G>C (p.Lys890Asn) c.2313G>C (p.Lys771Asn) | |
2 | g.166272693C>T | CA59791637 | SCN1A-AS1,SCN9A | c.3057G>A (p.Lys1019=) c.57G>A (p.Lys19=) c.3024G>A (p.Lys1008=) c.1877-195G>A n.870-4395C>T c.2670G>A (p.Lys890=) c.2313G>A (p.Lys771=) | ClinVar dbSNP |
2 | g.166272694T>A | CA349074160 | SCN1A-AS1,SCN9A | c.3056A>T (p.Lys1019Met) c.56A>T (p.Lys19Met) c.3023A>T (p.Lys1008Met) c.1877-196A>T n.870-4394T>A c.2669A>T (p.Lys890Met) c.2312A>T (p.Lys771Met) | |
2 | g.166272694T>C | CA1944145 | SCN1A-AS1,SCN9A | c.3056A>G (p.Lys1019Arg) c.56A>G (p.Lys19Arg) c.3023A>G (p.Lys1008Arg) c.1877-196A>G n.870-4394T>C c.2669A>G (p.Lys890Arg) c.2312A>G (p.Lys771Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272694T>G | CA349074163 | SCN1A-AS1,SCN9A | c.3056A>C (p.Lys1019Thr) c.56A>C (p.Lys19Thr) c.3023A>C (p.Lys1008Thr) c.1877-196A>C n.870-4394T>G c.2669A>C (p.Lys890Thr) c.2312A>C (p.Lys771Thr) | gnomAD v4 |
2 | g.166272694T= | CA1304962819 | SCN1A-AS1,SCN9A | c.3056A= (p.Lys1019=) c.56A= (p.Lys19=) c.3023A= (p.Lys1008=) c.1877-196A= n.870-4394T= c.2669A= (p.Lys890=) c.2312A= (p.Lys771=) | |
2 | g.166272696del | CA2661766689 | SCN1A-AS1,SCN9A | c.3056del (p.Lys1019ArgfsTer6) c.56del (p.Lys19ArgfsTer6) c.3023del (p.Lys1008ArgfsTer6) c.1877-196del n.870-4392del c.2669del (p.Lys890ArgfsTer6) c.2312del (p.Lys771ArgfsTer6) | gnomAD v4 |
2 | g.166272695T>A | CA349074168 | SCN1A-AS1,SCN9A | c.3055A>T (p.Lys1019Ter) c.55A>T (p.Lys19Ter) c.3022A>T (p.Lys1008Ter) c.1877-197A>T n.870-4393T>A c.2668A>T (p.Lys890Ter) c.2311A>T (p.Lys771Ter) | dbSNP |
2 | g.166272695T>C | CA349074171 | SCN1A-AS1,SCN9A | c.3055A>G (p.Lys1019Glu) c.55A>G (p.Lys19Glu) c.3022A>G (p.Lys1008Glu) c.1877-197A>G n.870-4393T>C c.2668A>G (p.Lys890Glu) c.2311A>G (p.Lys771Glu) | gnomAD v4 |
2 | g.166272695T>G | CA349074173 | SCN1A-AS1,SCN9A | c.3055A>C (p.Lys1019Gln) c.55A>C (p.Lys19Gln) c.3022A>C (p.Lys1008Gln) c.1877-197A>C n.870-4393T>G c.2668A>C (p.Lys890Gln) c.2311A>C (p.Lys771Gln) | |
2 | g.166272695T= | CA1304962820 | SCN1A-AS1,SCN9A | c.3055A= (p.Lys1019=) c.55A= (p.Lys19=) c.3022A= (p.Lys1008=) c.1877-197A= n.870-4393T= c.2668A= (p.Lys890=) c.2311A= (p.Lys771=) | |
2 | g.166272696T>A | CA429977947 | SCN1A-AS1,SCN9A | c.3054A>T (p.Pro1018=) c.54A>T (p.Pro18=) c.3021A>T (p.Pro1007=) c.1877-198A>T n.870-4392T>A c.2667A>T (p.Pro889=) c.2310A>T (p.Pro770=) | |
2 | g.166272696T>C | CA429977946 | SCN1A-AS1,SCN9A | c.3054A>G (p.Pro1018=) c.54A>G (p.Pro18=) c.3021A>G (p.Pro1007=) c.1877-198A>G n.870-4392T>C c.2667A>G (p.Pro889=) c.2310A>G (p.Pro770=) | dbSNP gnomAD v4 |
2 | g.166272696T>G | CA429977944 | SCN1A-AS1,SCN9A | c.3054A>C (p.Pro1018=) c.54A>C (p.Pro18=) c.3021A>C (p.Pro1007=) c.1877-198A>C n.870-4392T>G c.2667A>C (p.Pro889=) c.2310A>C (p.Pro770=) | |
2 | g.166272696T= | CA1304962821 | SCN1A-AS1,SCN9A | c.3054A= (p.Pro1018=) c.54A= (p.Pro18=) c.3021A= (p.Pro1007=) c.1877-198A= n.870-4392T= c.2667A= (p.Pro889=) c.2310A= (p.Pro770=) | |
2 | g.166272697G>A | CA349074176 | SCN1A-AS1,SCN9A | c.3053C>T (p.Pro1018Leu) c.53C>T (p.Pro18Leu) c.3020C>T (p.Pro1007Leu) c.1877-199C>T n.870-4391G>A c.2666C>T (p.Pro889Leu) c.2309C>T (p.Pro770Leu) | gnomAD v4 |
2 | g.166272697G>C | CA349074185 | SCN1A-AS1,SCN9A | c.3053C>G (p.Pro1018Arg) c.53C>G (p.Pro18Arg) c.3020C>G (p.Pro1007Arg) c.1877-199C>G n.870-4391G>C c.2666C>G (p.Pro889Arg) c.2309C>G (p.Pro770Arg) | |
2 | g.166272697G>T | CA349074189 | SCN1A-AS1,SCN9A | c.3053C>A (p.Pro1018Gln) c.53C>A (p.Pro18Gln) c.3020C>A (p.Pro1007Gln) c.1877-199C>A n.870-4391G>T c.2666C>A (p.Pro889Gln) c.2309C>A (p.Pro770Gln) | |
2 | g.166272698del | CA2661766690 | SCN1A-AS1,SCN9A | c.3053del (p.Pro1018GlnfsTer7) c.53del (p.Pro18GlnfsTer7) c.3020del (p.Pro1007GlnfsTer7) c.1877-199del n.870-4390del c.2666del (p.Pro889GlnfsTer7) c.2309del (p.Pro770GlnfsTer7) | gnomAD v4 |
2 | g.166272698G>A | CA349074194 | SCN1A-AS1,SCN9A | c.3052C>T (p.Pro1018Ser) c.52C>T (p.Pro18Ser) c.3019C>T (p.Pro1007Ser) c.1877-200C>T n.870-4390G>A c.2665C>T (p.Pro889Ser) c.2308C>T (p.Pro770Ser) | |
2 | g.166272698G>C | CA349074196 | SCN1A-AS1,SCN9A | c.3052C>G (p.Pro1018Ala) c.52C>G (p.Pro18Ala) c.3019C>G (p.Pro1007Ala) c.1877-200C>G n.870-4390G>C c.2665C>G (p.Pro889Ala) c.2308C>G (p.Pro770Ala) | |
2 | g.166272698G>T | CA349074198 | SCN1A-AS1,SCN9A | c.3052C>A (p.Pro1018Thr) c.52C>A (p.Pro18Thr) c.3019C>A (p.Pro1007Thr) c.1877-200C>A n.870-4390G>T c.2665C>A (p.Pro889Thr) c.2308C>A (p.Pro770Thr) | |
2 | g.166272699C>A | CA349074200 | SCN1A-AS1,SCN9A | c.3051G>T (p.Lys1017Asn) c.51G>T (p.Lys17Asn) c.3018G>T (p.Lys1006Asn) c.1877-201G>T n.870-4389C>A c.2664G>T (p.Lys888Asn) c.2307G>T (p.Lys769Asn) | |
2 | g.166272699C= | CA1304962822 | SCN1A-AS1,SCN9A | c.3051G= (p.Lys1017=) c.51G= (p.Lys17=) c.3018G= (p.Lys1006=) c.1877-201G= n.870-4389C= c.2664G= (p.Lys888=) c.2307G= (p.Lys769=) | |
2 | g.166272699C>G | CA1944146 | SCN1A-AS1,SCN9A | c.3051G>C (p.Lys1017Asn) c.51G>C (p.Lys17Asn) c.3018G>C (p.Lys1006Asn) c.1877-201G>C n.870-4389C>G c.2664G>C (p.Lys888Asn) c.2307G>C (p.Lys769Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272699C>T | CA429977948 | SCN1A-AS1,SCN9A | c.3051G>A (p.Lys1017=) c.51G>A (p.Lys17=) c.3018G>A (p.Lys1006=) c.1877-201G>A n.870-4389C>T c.2664G>A (p.Lys888=) c.2307G>A (p.Lys769=) | gnomAD v4 |
2 | g.166272700T>A | CA349074211 | SCN1A-AS1,SCN9A | c.3050A>T (p.Lys1017Met) c.50A>T (p.Lys17Met) c.3017A>T (p.Lys1006Met) c.1877-202A>T n.870-4388T>A c.2663A>T (p.Lys888Met) c.2306A>T (p.Lys769Met) | gnomAD v4 |
2 | g.166272700T>C | CA349074208 | SCN1A-AS1,SCN9A | c.3050A>G (p.Lys1017Arg) c.50A>G (p.Lys17Arg) c.3017A>G (p.Lys1006Arg) c.1877-202A>G n.870-4388T>C c.2663A>G (p.Lys888Arg) c.2306A>G (p.Lys769Arg) | |
2 | g.166272700T>G | CA349074206 | SCN1A-AS1,SCN9A | c.3050A>C (p.Lys1017Thr) c.50A>C (p.Lys17Thr) c.3017A>C (p.Lys1006Thr) c.1877-202A>C n.870-4388T>G c.2663A>C (p.Lys888Thr) c.2306A>C (p.Lys769Thr) | gnomAD v4 |
2 | g.166272701T>A | CA349074213 | SCN1A-AS1,SCN9A | c.3049A>T (p.Lys1017Ter) c.49A>T (p.Lys17Ter) c.3016A>T (p.Lys1006Ter) c.1877-203A>T n.870-4387T>A c.2662A>T (p.Lys888Ter) c.2305A>T (p.Lys769Ter) | |
2 | g.166272701T>C | CA349074217 | SCN1A-AS1,SCN9A | c.3049A>G (p.Lys1017Glu) c.49A>G (p.Lys17Glu) c.3016A>G (p.Lys1006Glu) c.1877-203A>G n.870-4387T>C c.2662A>G (p.Lys888Glu) c.2305A>G (p.Lys769Glu) | |
2 | g.166272701T>G | CA349074220 | SCN1A-AS1,SCN9A | c.3049A>C (p.Lys1017Gln) c.49A>C (p.Lys17Gln) c.3016A>C (p.Lys1006Gln) c.1877-203A>C n.870-4387T>G c.2662A>C (p.Lys888Gln) c.2305A>C (p.Lys769Gln) | |
2 | g.166272702T>A | CA349074224 | SCN1A-AS1,SCN9A | c.3048A>T (p.Lys1016Asn) c.48A>T (p.Lys16Asn) c.3015A>T (p.Lys1005Asn) c.1877-204A>T n.870-4386T>A c.2661A>T (p.Lys887Asn) c.2304A>T (p.Lys768Asn) | |
2 | g.166272702T>C | CA429977956 | SCN1A-AS1,SCN9A | c.3048A>G (p.Lys1016=) c.48A>G (p.Lys16=) c.3015A>G (p.Lys1005=) c.1877-204A>G n.870-4386T>C c.2661A>G (p.Lys887=) c.2304A>G (p.Lys768=) | |
2 | g.166272702T>G | CA349074228 | SCN1A-AS1,SCN9A | c.3048A>C (p.Lys1016Asn) c.48A>C (p.Lys16Asn) c.3015A>C (p.Lys1005Asn) c.1877-204A>C n.870-4386T>G c.2661A>C (p.Lys887Asn) c.2304A>C (p.Lys768Asn) | |
2 | g.166272703T>A | CA349074231 | SCN1A-AS1,SCN9A | c.3047A>T (p.Lys1016Ile) c.47A>T (p.Lys16Ile) c.3014A>T (p.Lys1005Ile) c.1877-205A>T n.870-4385T>A c.2660A>T (p.Lys887Ile) c.2303A>T (p.Lys768Ile) | |
2 | g.166272703T>C | CA349074234 | SCN1A-AS1,SCN9A | c.3047A>G (p.Lys1016Arg) c.47A>G (p.Lys16Arg) c.3014A>G (p.Lys1005Arg) c.1877-205A>G n.870-4385T>C c.2660A>G (p.Lys887Arg) c.2303A>G (p.Lys768Arg) | |
2 | g.166272703T>G | CA1944147 | SCN1A-AS1,SCN9A | c.3047A>C (p.Lys1016Thr) c.47A>C (p.Lys16Thr) c.3014A>C (p.Lys1005Thr) c.1877-205A>C n.870-4385T>G c.2660A>C (p.Lys887Thr) c.2303A>C (p.Lys768Thr) | dbSNP ExAC gnomAD v4 |
2 | g.166272703T= | CA1304962823 | SCN1A-AS1,SCN9A | c.3047A= (p.Lys1016=) c.47A= (p.Lys16=) c.3014A= (p.Lys1005=) c.1877-205A= n.870-4385T= c.2660A= (p.Lys887=) c.2303A= (p.Lys768=) | |
2 | g.166272704T>A | CA349074238 | SCN1A-AS1,SCN9A | c.3046A>T (p.Lys1016Ter) c.46A>T (p.Lys16Ter) c.3013A>T (p.Lys1005Ter) c.1877-206A>T n.870-4384T>A c.2659A>T (p.Lys887Ter) c.2302A>T (p.Lys768Ter) | dbSNP |
2 | g.166272704T>C | CA349074240 | SCN1A-AS1,SCN9A | c.3046A>G (p.Lys1016Glu) c.46A>G (p.Lys16Glu) c.3013A>G (p.Lys1005Glu) c.1877-206A>G n.870-4384T>C c.2659A>G (p.Lys887Glu) c.2302A>G (p.Lys768Glu) | gnomAD v4 |
2 | g.166272704T>G | CA349074242 | SCN1A-AS1,SCN9A | c.3046A>C (p.Lys1016Gln) c.46A>C (p.Lys16Gln) c.3013A>C (p.Lys1005Gln) c.1877-206A>C n.870-4384T>G c.2659A>C (p.Lys887Gln) c.2302A>C (p.Lys768Gln) | |
2 | g.166272704T= | CA1304962824 | SCN1A-AS1,SCN9A | c.3046A= (p.Lys1016=) c.46A= (p.Lys16=) c.3013A= (p.Lys1005=) c.1877-206A= n.870-4384T= c.2659A= (p.Lys887=) c.2302A= (p.Lys768=) | |
2 | g.166272705G>A | CA59791662 | SCN1A-AS1,SCN9A | c.3045C>T (p.Ser1015=) c.45C>T (p.Ser15=) c.3012C>T (p.Ser1004=) c.1877-207C>T n.870-4383G>A c.2658C>T (p.Ser886=) c.2301C>T (p.Ser767=) | ClinVar dbSNP COSMIC COSMIC |
2 | g.166272705G>C | CA429977961 | SCN1A-AS1,SCN9A | c.3045C>G (p.Ser1015=) c.45C>G (p.Ser15=) c.3012C>G (p.Ser1004=) c.1877-207C>G n.870-4383G>C c.2658C>G (p.Ser886=) c.2301C>G (p.Ser767=) | |
2 | g.166272705G= | CA1304962825 | SCN1A-AS1,SCN9A | c.3045C= (p.Ser1015=) c.45C= (p.Ser15=) c.3012C= (p.Ser1004=) c.1877-207C= n.870-4383G= c.2658C= (p.Ser886=) c.2301C= (p.Ser767=) | |
2 | g.166272705G>T | CA429977962 | SCN1A-AS1,SCN9A | c.3045C>A (p.Ser1015=) c.45C>A (p.Ser15=) c.3012C>A (p.Ser1004=) c.1877-207C>A n.870-4383G>T c.2658C>A (p.Ser886=) c.2301C>A (p.Ser767=) | |
2 | g.166272706G>A | CA1944149 | SCN1A-AS1,SCN9A | c.3044C>T (p.Ser1015Phe) c.44C>T (p.Ser15Phe) c.3011C>T (p.Ser1004Phe) c.1877-208C>T n.870-4382G>A c.2657C>T (p.Ser886Phe) c.2300C>T (p.Ser767Phe) | dbSNP ExAC gnomAD v2 |
2 | g.166272706G>C | CA1944148 | SCN1A-AS1,SCN9A | c.3044C>G (p.Ser1015Cys) c.44C>G (p.Ser15Cys) c.3011C>G (p.Ser1004Cys) c.1877-208C>G n.870-4382G>C c.2657C>G (p.Ser886Cys) c.2300C>G (p.Ser767Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166272706G= | CA1304962826 | SCN1A-AS1,SCN9A | c.3044C= (p.Ser1015=) c.44C= (p.Ser15=) c.3011C= (p.Ser1004=) c.1877-208C= n.870-4382G= c.2657C= (p.Ser886=) c.2300C= (p.Ser767=) | |
2 | g.166272706G>T | CA349074251 | SCN1A-AS1,SCN9A | c.3044C>A (p.Ser1015Tyr) c.44C>A (p.Ser15Tyr) c.3011C>A (p.Ser1004Tyr) c.1877-208C>A n.870-4382G>T c.2657C>A (p.Ser886Tyr) c.2300C>A (p.Ser767Tyr) | gnomAD v4 |
2 | g.166272707A>C | CA349074257 | SCN1A-AS1,SCN9A | c.3043T>G (p.Ser1015Ala) c.43T>G (p.Ser15Ala) c.3010T>G (p.Ser1004Ala) c.1877-209T>G n.870-4381A>C c.2656T>G (p.Ser886Ala) c.2299T>G (p.Ser767Ala) | |
2 | g.166272707A>G | CA349074259 | SCN1A-AS1,SCN9A | c.3043T>C (p.Ser1015Pro) c.43T>C (p.Ser15Pro) c.3010T>C (p.Ser1004Pro) c.1877-209T>C n.870-4381A>G c.2656T>C (p.Ser886Pro) c.2299T>C (p.Ser767Pro) | ClinVar |
2 | g.166272707A>T | CA349074261 | SCN1A-AS1,SCN9A | c.3043T>A (p.Ser1015Thr) c.43T>A (p.Ser15Thr) c.3010T>A (p.Ser1004Thr) c.1877-209T>A n.870-4381A>T c.2656T>A (p.Ser886Thr) c.2299T>A (p.Ser767Thr) | |
2 | g.166272710del | CA2552926038 | SCN1A-AS1,SCN9A | c.3043del (p.Ser1015ProfsTer10) c.43del (p.Ser15ProfsTer10) c.3010del (p.Ser1004ProfsTer10) c.1877-209del n.870-4378del c.2656del (p.Ser886ProfsTer10) c.2299del (p.Ser767ProfsTer10) | gnomAD v4 |
2 | g.166272708A>C | CA349074264 | SCN1A-AS1,SCN9A | c.3042T>G (p.Phe1014Leu) c.42T>G (p.Phe14Leu) c.3009T>G (p.Phe1003Leu) c.1877-210T>G n.870-4380A>C c.2655T>G (p.Phe885Leu) c.2298T>G (p.Phe766Leu) | |
2 | g.166272708A>G | CA429977967 | SCN1A-AS1,SCN9A | c.3042T>C (p.Phe1014=) c.42T>C (p.Phe14=) c.3009T>C (p.Phe1003=) c.1877-210T>C n.870-4380A>G c.2655T>C (p.Phe885=) c.2298T>C (p.Phe766=) | |
2 | g.166272708A>T | CA349074265 | SCN1A-AS1,SCN9A | c.3042T>A (p.Phe1014Leu) c.42T>A (p.Phe14Leu) c.3009T>A (p.Phe1003Leu) c.1877-210T>A n.870-4380A>T c.2655T>A (p.Phe885Leu) c.2298T>A (p.Phe766Leu) | |
2 | g.166272709A>C | CA349074269 | SCN1A-AS1,SCN9A | c.3041T>G (p.Phe1014Cys) c.41T>G (p.Phe14Cys) c.3008T>G (p.Phe1003Cys) c.1877-211T>G n.870-4379A>C c.2654T>G (p.Phe885Cys) c.2297T>G (p.Phe766Cys) | |
2 | g.166272709A>G | CA349074272 | SCN1A-AS1,SCN9A | c.3041T>C (p.Phe1014Ser) c.41T>C (p.Phe14Ser) c.3008T>C (p.Phe1003Ser) c.1877-211T>C n.870-4379A>G c.2654T>C (p.Phe885Ser) c.2297T>C (p.Phe766Ser) | gnomAD v4 |
2 | g.166272709A>T | CA349074275 | SCN1A-AS1,SCN9A | c.3041T>A (p.Phe1014Tyr) c.41T>A (p.Phe14Tyr) c.3008T>A (p.Phe1003Tyr) c.1877-211T>A n.870-4379A>T c.2654T>A (p.Phe885Tyr) c.2297T>A (p.Phe766Tyr) | |
2 | g.166272710A= | CA1304962827 | SCN1A-AS1,SCN9A | c.3040T= (p.Phe1014=) c.40T= (p.Phe14=) c.3007T= (p.Phe1003=) c.1877-212T= n.870-4378A= c.2653T= (p.Phe885=) c.2296T= (p.Phe766=) | |
2 | g.166272710A>C | CA349074279 | SCN1A-AS1,SCN9A | c.3040T>G (p.Phe1014Val) c.40T>G (p.Phe14Val) c.3007T>G (p.Phe1003Val) c.1877-212T>G n.870-4378A>C c.2653T>G (p.Phe885Val) c.2296T>G (p.Phe766Val) | |
2 | g.166272710A>G | CA349074283 | SCN1A-AS1,SCN9A | c.3040T>C (p.Phe1014Leu) c.40T>C (p.Phe14Leu) c.3007T>C (p.Phe1003Leu) c.1877-212T>C n.870-4378A>G c.2653T>C (p.Phe885Leu) c.2296T>C (p.Phe766Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166272710A>T | CA349074286 | SCN1A-AS1,SCN9A | c.3040T>A (p.Phe1014Ile) c.40T>A (p.Phe14Ile) c.3007T>A (p.Phe1003Ile) c.1877-212T>A n.870-4378A>T c.2653T>A (p.Phe885Ile) c.2296T>A (p.Phe766Ile) | |
2 | g.166272711T>A | CA429977970 | SCN1A-AS1,SCN9A | c.3039A>T (p.Ala1013=) c.39A>T (p.Ala13=) c.3006A>T (p.Ala1002=) c.1877-213A>T n.870-4377T>A c.2652A>T (p.Ala884=) c.2295A>T (p.Ala765=) | |
2 | g.166272711T>C | CA59791702 | SCN1A-AS1,SCN9A | c.3039A>G (p.Ala1013=) c.39A>G (p.Ala13=) c.3006A>G (p.Ala1002=) c.1877-213A>G n.870-4377T>C c.2652A>G (p.Ala884=) c.2295A>G (p.Ala765=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272711T>G | CA429977976 | SCN1A-AS1,SCN9A | c.3039A>C (p.Ala1013=) c.39A>C (p.Ala13=) c.3006A>C (p.Ala1002=) c.1877-213A>C n.870-4377T>G c.2652A>C (p.Ala884=) c.2295A>C (p.Ala765=) | |
2 | g.166272711T= | CA1304962828 | SCN1A-AS1,SCN9A | c.3039A= (p.Ala1013=) c.39A= (p.Ala13=) c.3006A= (p.Ala1002=) c.1877-213A= n.870-4377T= c.2652A= (p.Ala884=) c.2295A= (p.Ala765=) | |
2 | g.166272712G>A | CA59791708 | SCN1A-AS1,SCN9A | c.3038C>T (p.Ala1013Val) c.38C>T (p.Ala13Val) c.3005C>T (p.Ala1002Val) c.1877-214C>T n.870-4376G>A c.2651C>T (p.Ala884Val) c.2294C>T (p.Ala765Val) | ClinVar dbSNP |
2 | g.166272712G>C | CA349074298 | SCN1A-AS1,SCN9A | c.3038C>G (p.Ala1013Gly) c.38C>G (p.Ala13Gly) c.3005C>G (p.Ala1002Gly) c.1877-214C>G n.870-4376G>C c.2651C>G (p.Ala884Gly) c.2294C>G (p.Ala765Gly) | dbSNP |
2 | g.166272712G= | CA1304962829 | SCN1A-AS1,SCN9A | c.3038C= (p.Ala1013=) c.38C= (p.Ala13=) c.3005C= (p.Ala1002=) c.1877-214C= n.870-4376G= c.2651C= (p.Ala884=) c.2294C= (p.Ala765=) | |
2 | g.166272712G>T | CA59791707 | SCN1A-AS1,SCN9A | c.3038C>A (p.Ala1013Glu) c.38C>A (p.Ala13Glu) c.3005C>A (p.Ala1002Glu) c.1877-214C>A n.870-4376G>T c.2651C>A (p.Ala884Glu) c.2294C>A (p.Ala765Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272713C>A | CA349074303 | SCN1A-AS1,SCN9A | c.3037G>T (p.Ala1013Ser) c.37G>T (p.Ala13Ser) c.3004G>T (p.Ala1002Ser) c.1877-215G>T n.870-4375C>A c.2650G>T (p.Ala884Ser) c.2293G>T (p.Ala765Ser) | |
2 | g.166272713C>G | CA349074307 | SCN1A-AS1,SCN9A | c.3037G>C (p.Ala1013Pro) c.37G>C (p.Ala13Pro) c.3004G>C (p.Ala1002Pro) c.1877-215G>C n.870-4375C>G c.2650G>C (p.Ala884Pro) c.2293G>C (p.Ala765Pro) | |
2 | g.166272713C>T | CA349074310 | SCN1A-AS1,SCN9A | c.3037G>A (p.Ala1013Thr) c.37G>A (p.Ala13Thr) c.3004G>A (p.Ala1002Thr) c.1877-215G>A n.870-4375C>T c.2650G>A (p.Ala884Thr) c.2293G>A (p.Ala765Thr) | gnomAD v4 |
2 | g.166272714T>A | CA349074315 | SCN1A-AS1,SCN9A | c.3036A>T (p.Lys1012Asn) c.36A>T (p.Lys12Asn) c.3003A>T (p.Lys1001Asn) c.1877-216A>T n.870-4374T>A c.2649A>T (p.Lys883Asn) c.2292A>T (p.Lys764Asn) | |
2 | g.166272714T>C | CA1944150 | SCN1A-AS1,SCN9A | c.3036A>G (p.Lys1012=) c.36A>G (p.Lys12=) c.3003A>G (p.Lys1001=) c.1877-216A>G n.870-4374T>C c.2649A>G (p.Lys883=) c.2292A>G (p.Lys764=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272714T>G | CA349074318 | SCN1A-AS1,SCN9A | c.3036A>C (p.Lys1012Asn) c.36A>C (p.Lys12Asn) c.3003A>C (p.Lys1001Asn) c.1877-216A>C n.870-4374T>G c.2649A>C (p.Lys883Asn) c.2292A>C (p.Lys764Asn) | |
2 | g.166272714T= | CA1304962830 | SCN1A-AS1,SCN9A | c.3036A= (p.Lys1012=) c.36A= (p.Lys12=) c.3003A= (p.Lys1001=) c.1877-216A= n.870-4374T= c.2649A= (p.Lys883=) c.2292A= (p.Lys764=) | |
2 | g.166272715T>A | CA349074321 | SCN1A-AS1,SCN9A | c.3035A>T (p.Lys1012Ile) c.35A>T (p.Lys12Ile) c.3002A>T (p.Lys1001Ile) c.1877-217A>T n.870-4373T>A c.2648A>T (p.Lys883Ile) c.2291A>T (p.Lys764Ile) | |
2 | g.166272715T>C | CA349074326 | SCN1A-AS1,SCN9A | c.3035A>G (p.Lys1012Arg) c.35A>G (p.Lys12Arg) c.3002A>G (p.Lys1001Arg) c.1877-217A>G n.870-4373T>C c.2648A>G (p.Lys883Arg) c.2291A>G (p.Lys764Arg) | |
2 | g.166272715T>G | CA349074323 | SCN1A-AS1,SCN9A | c.3035A>C (p.Lys1012Thr) c.35A>C (p.Lys12Thr) c.3002A>C (p.Lys1001Thr) c.1877-217A>C n.870-4373T>G c.2648A>C (p.Lys883Thr) c.2291A>C (p.Lys764Thr) | gnomAD v4 |
2 | g.166272716T>A | CA349074328 | SCN1A-AS1,SCN9A | c.3034A>T (p.Lys1012Ter) c.34A>T (p.Lys12Ter) c.3001A>T (p.Lys1001Ter) c.1877-218A>T n.870-4372T>A c.2647A>T (p.Lys883Ter) c.2290A>T (p.Lys764Ter) | dbSNP |
2 | g.166272716T>C | CA349074329 | SCN1A-AS1,SCN9A | c.3034A>G (p.Lys1012Glu) c.34A>G (p.Lys12Glu) c.3001A>G (p.Lys1001Glu) c.1877-218A>G n.870-4372T>C c.2647A>G (p.Lys883Glu) c.2290A>G (p.Lys764Glu) | |
2 | g.166272716T>G | CA349074332 | SCN1A-AS1,SCN9A | c.3034A>C (p.Lys1012Gln) c.34A>C (p.Lys12Gln) c.3001A>C (p.Lys1001Gln) c.1877-218A>C n.870-4372T>G c.2647A>C (p.Lys883Gln) c.2290A>C (p.Lys764Gln) | |
2 | g.166272716T= | CA1304962831 | SCN1A-AS1,SCN9A | c.3034A= (p.Lys1012=) c.34A= (p.Lys12=) c.3001A= (p.Lys1001=) c.1877-218A= n.870-4372T= c.2647A= (p.Lys883=) c.2290A= (p.Lys764=) | |
2 | g.166272717T>A | CA429977980 | SCN1A-AS1,SCN9A | c.3033A>T (p.Leu1011=) c.33A>T (p.Leu11=) c.3000A>T (p.Leu1000=) c.1877-219A>T n.870-4371T>A c.2646A>T (p.Leu882=) c.2289A>T (p.Leu763=) | |
2 | g.166272717T>C | CA59791709 | SCN1A-AS1,SCN9A | c.3033A>G (p.Leu1011=) c.33A>G (p.Leu11=) c.3000A>G (p.Leu1000=) c.1877-219A>G n.870-4371T>C c.2646A>G (p.Leu882=) c.2289A>G (p.Leu763=) | dbSNP gnomAD v4 |
2 | g.166272717T>G | CA429977981 | SCN1A-AS1,SCN9A | c.3033A>C (p.Leu1011=) c.33A>C (p.Leu11=) c.3000A>C (p.Leu1000=) c.1877-219A>C n.870-4371T>G c.2646A>C (p.Leu882=) c.2289A>C (p.Leu763=) | |
2 | g.166272717T= | CA1304962832 | SCN1A-AS1,SCN9A | c.3033A= (p.Leu1011=) c.33A= (p.Leu11=) c.3000A= (p.Leu1000=) c.1877-219A= n.870-4371T= c.2646A= (p.Leu882=) c.2289A= (p.Leu763=) | |
2 | g.166272718A= | CA1304962833 | SCN1A-AS1,SCN9A | c.3032T= (p.Leu1011=) c.32T= (p.Leu11=) c.2999T= (p.Leu1000=) c.1877-220T= n.870-4370A= c.2645T= (p.Leu882=) c.2288T= (p.Leu763=) | |
2 | g.166272718A>C | CA349074337 | SCN1A-AS1,SCN9A | c.3032T>G (p.Leu1011Arg) c.32T>G (p.Leu11Arg) c.2999T>G (p.Leu1000Arg) c.1877-220T>G n.870-4370A>C c.2645T>G (p.Leu882Arg) c.2288T>G (p.Leu763Arg) | |
2 | g.166272718A>G | CA59791717 | SCN1A-AS1,SCN9A | c.3032T>C (p.Leu1011Pro) c.32T>C (p.Leu11Pro) c.2999T>C (p.Leu1000Pro) c.1877-220T>C n.870-4370A>G c.2645T>C (p.Leu882Pro) c.2288T>C (p.Leu763Pro) | ClinVar dbSNP |
2 | g.166272718A>T | CA349074341 | SCN1A-AS1,SCN9A | c.3032T>A (p.Leu1011Gln) c.32T>A (p.Leu11Gln) c.2999T>A (p.Leu1000Gln) c.1877-220T>A n.870-4370A>T c.2645T>A (p.Leu882Gln) c.2288T>A (p.Leu763Gln) | |
2 | g.166272719G>A | CA429977982 | SCN1A-AS1,SCN9A | c.3031C>T (p.Leu1011=) c.31C>T (p.Leu11=) c.2998C>T (p.Leu1000=) c.1877-221C>T n.870-4369G>A c.2644C>T (p.Leu882=) c.2287C>T (p.Leu763=) | gnomAD v4 |
2 | g.166272719G>C | CA1944151 | SCN1A-AS1,SCN9A | c.3031C>G (p.Leu1011Val) c.31C>G (p.Leu11Val) c.2998C>G (p.Leu1000Val) c.1877-221C>G n.870-4369G>C c.2644C>G (p.Leu882Val) c.2287C>G (p.Leu763Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166272719G= | CA1304962834 | SCN1A-AS1,SCN9A | c.3031C= (p.Leu1011=) c.31C= (p.Leu11=) c.2998C= (p.Leu1000=) c.1877-221C= n.870-4369G= c.2644C= (p.Leu882=) c.2287C= (p.Leu763=) | |
2 | g.166272719G>T | CA349074358 | SCN1A-AS1,SCN9A | c.3031C>A (p.Leu1011Ile) c.31C>A (p.Leu11Ile) c.2998C>A (p.Leu1000Ile) c.1877-221C>A n.870-4369G>T c.2644C>A (p.Leu882Ile) c.2287C>A (p.Leu763Ile) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.166272720A>C | CA349074363 | SCN1A-AS1,SCN9A | c.3030T>G (p.Ile1010Met) c.30T>G (p.Ile10Met) c.2997T>G (p.Ile999Met) c.1877-222T>G n.870-4368A>C c.2643T>G (p.Ile881Met) c.2286T>G (p.Ile762Met) | |
2 | g.166272720A>G | CA429977985 | SCN1A-AS1,SCN9A | c.3030T>C (p.Ile1010=) c.30T>C (p.Ile10=) c.2997T>C (p.Ile999=) c.1877-222T>C n.870-4368A>G c.2643T>C (p.Ile881=) c.2286T>C (p.Ile762=) | |
2 | g.166272720A>T | CA429977984 | SCN1A-AS1,SCN9A | c.3030T>A (p.Ile1010=) c.30T>A (p.Ile10=) c.2997T>A (p.Ile999=) c.1877-222T>A n.870-4368A>T c.2643T>A (p.Ile881=) c.2286T>A (p.Ile762=) | |
2 | g.166272721A>C | CA349074366 | SCN1A-AS1,SCN9A | c.3029T>G (p.Ile1010Ser) c.29T>G (p.Ile10Ser) c.2996T>G (p.Ile999Ser) c.1877-223T>G n.870-4367A>C c.2642T>G (p.Ile881Ser) c.2285T>G (p.Ile762Ser) | |
2 | g.166272721A>G | CA349074368 | SCN1A-AS1,SCN9A | c.3029T>C (p.Ile1010Thr) c.29T>C (p.Ile10Thr) c.2996T>C (p.Ile999Thr) c.1877-223T>C n.870-4367A>G c.2642T>C (p.Ile881Thr) c.2285T>C (p.Ile762Thr) | |
2 | g.166272721A>T | CA349074371 | SCN1A-AS1,SCN9A | c.3029T>A (p.Ile1010Asn) c.29T>A (p.Ile10Asn) c.2996T>A (p.Ile999Asn) c.1877-223T>A n.870-4367A>T c.2642T>A (p.Ile881Asn) c.2285T>A (p.Ile762Asn) | |
2 | g.166272722T>A | CA349074376 | SCN1A-AS1,SCN9A | c.3028A>T (p.Ile1010Phe) c.28A>T (p.Ile10Phe) c.2995A>T (p.Ile999Phe) c.1877-224A>T n.870-4366T>A c.2641A>T (p.Ile881Phe) c.2284A>T (p.Ile762Phe) | |
2 | g.166272722T>C | CA1944152 | SCN1A-AS1,SCN9A | c.3028A>G (p.Ile1010Val) c.28A>G (p.Ile10Val) c.2995A>G (p.Ile999Val) c.1877-224A>G n.870-4366T>C c.2641A>G (p.Ile881Val) c.2284A>G (p.Ile762Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272722T>G | CA349074383 | SCN1A-AS1,SCN9A | c.3028A>C (p.Ile1010Leu) c.28A>C (p.Ile10Leu) c.2995A>C (p.Ile999Leu) c.1877-224A>C n.870-4366T>G c.2641A>C (p.Ile881Leu) c.2284A>C (p.Ile762Leu) | |
2 | g.166272722T= | CA1304962835 | SCN1A-AS1,SCN9A | c.3028A= (p.Ile1010=) c.28A= (p.Ile10=) c.2995A= (p.Ile999=) c.1877-224A= n.870-4366T= c.2641A= (p.Ile881=) c.2284A= (p.Ile762=) | |
2 | g.166272723A>C | CA349074388 | SCN1A-AS1,SCN9A | c.3027T>G (p.Phe1009Leu) c.27T>G (p.Phe9Leu) c.2994T>G (p.Phe998Leu) c.1877-225T>G n.870-4365A>C c.2640T>G (p.Phe880Leu) c.2283T>G (p.Phe761Leu) | |
2 | g.166272723A>G | CA429977990 | SCN1A-AS1,SCN9A | c.3027T>C (p.Phe1009=) c.27T>C (p.Phe9=) c.2994T>C (p.Phe998=) c.1877-225T>C n.870-4365A>G c.2640T>C (p.Phe880=) c.2283T>C (p.Phe761=) | gnomAD v4 |
2 | g.166272723A>T | CA349074389 | SCN1A-AS1,SCN9A | c.3027T>A (p.Phe1009Leu) c.27T>A (p.Phe9Leu) c.2994T>A (p.Phe998Leu) c.1877-225T>A n.870-4365A>T c.2640T>A (p.Phe880Leu) c.2283T>A (p.Phe761Leu) | |
2 | g.166272723_166272726delinsAAAT | CA1304962836 | SCN1A-AS1,SCN9A | c.3024_3027delinsATTT (p.Glu1008=) c.24_27delinsATTT (p.Glu8=) c.2991_2994delinsATTT (p.Glu997=) c.1877-228_1877-225delinsATTT n.870-4365_870-4362delinsAAAT c.2637_2640delinsATTT (p.Glu879=) c.2280_2283delinsATTT (p.Glu760=) | |
2 | g.166272724A>C | CA349074391 | SCN1A-AS1,SCN9A | c.3026T>G (p.Phe1009Cys) c.26T>G (p.Phe9Cys) c.2993T>G (p.Phe998Cys) c.1877-226T>G n.870-4364A>C c.2639T>G (p.Phe880Cys) c.2282T>G (p.Phe761Cys) | COSMIC COSMIC |
2 | g.166272724A>G | CA349074394 | SCN1A-AS1,SCN9A | c.3026T>C (p.Phe1009Ser) c.26T>C (p.Phe9Ser) c.2993T>C (p.Phe998Ser) c.1877-226T>C n.870-4364A>G c.2639T>C (p.Phe880Ser) c.2282T>C (p.Phe761Ser) | |
2 | g.166272724A>T | CA349074396 | SCN1A-AS1,SCN9A | c.3026T>A (p.Phe1009Tyr) c.26T>A (p.Phe9Tyr) c.2993T>A (p.Phe998Tyr) c.1877-226T>A n.870-4364A>T c.2639T>A (p.Phe880Tyr) c.2282T>A (p.Phe761Tyr) | |
2 | g.166272724_166272726del | CA760206943 | SCN1A-AS1,SCN9A | c.3024_3026del (p.Glu1008_Phe1009delinsAsp) c.24_26del (p.Glu8_Phe9delinsAsp) c.2991_2993del (p.Glu997_Phe998delinsAsp) c.1877-228_1877-226del n.870-4364_870-4362del c.2637_2639del (p.Glu879_Phe880delinsAsp) c.2280_2282del (p.Glu760_Phe761delinsAsp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166272725A= | CA1304962837 | SCN1A-AS1,SCN9A | c.3025T= (p.Phe1009=) c.25T= (p.Phe9=) c.2992T= (p.Phe998=) c.1877-227T= n.870-4363A= c.2638T= (p.Phe880=) c.2281T= (p.Phe761=) | |
2 | g.166272725A>C | CA349074399 | SCN1A-AS1,SCN9A | c.3025T>G (p.Phe1009Val) c.25T>G (p.Phe9Val) c.2992T>G (p.Phe998Val) c.1877-227T>G n.870-4363A>C c.2638T>G (p.Phe880Val) c.2281T>G (p.Phe761Val) | |
2 | g.166272725A>G | CA59791726 | SCN1A-AS1,SCN9A | c.3025T>C (p.Phe1009Leu) c.25T>C (p.Phe9Leu) c.2992T>C (p.Phe998Leu) c.1877-227T>C n.870-4363A>G c.2638T>C (p.Phe880Leu) c.2281T>C (p.Phe761Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166272725A>T | CA349074410 | SCN1A-AS1,SCN9A | c.3025T>A (p.Phe1009Ile) c.25T>A (p.Phe9Ile) c.2992T>A (p.Phe998Ile) c.1877-227T>A n.870-4363A>T c.2638T>A (p.Phe880Ile) c.2281T>A (p.Phe761Ile) | |
2 | g.166272725_166272726delinsAT | CA1304962838 | SCN1A-AS1,SCN9A | c.3024_3025delinsAT (p.Glu1008=) c.24_25delinsAT (p.Glu8=) c.2991_2992delinsAT (p.Glu997=) c.1877-228_1877-227delinsAT n.870-4363_870-4362delinsAT c.2637_2638delinsAT (p.Glu879=) c.2280_2281delinsAT (p.Glu760=) | |
2 | g.166272726T>A | CA349074417 | SCN1A-AS1,SCN9A | c.3024A>T (p.Glu1008Asp) c.24A>T (p.Glu8Asp) c.2991A>T (p.Glu997Asp) c.1877-228A>T n.870-4362T>A c.2637A>T (p.Glu879Asp) c.2280A>T (p.Glu760Asp) | |
2 | g.166272726T>C | CA429977993 | SCN1A-AS1,SCN9A | c.3024A>G (p.Glu1008=) c.24A>G (p.Glu8=) c.2991A>G (p.Glu997=) c.1877-228A>G n.870-4362T>C c.2637A>G (p.Glu879=) c.2280A>G (p.Glu760=) | |
2 | g.166272726T>G | CA349074414 | SCN1A-AS1,SCN9A | c.3024A>C (p.Glu1008Asp) c.24A>C (p.Glu8Asp) c.2991A>C (p.Glu997Asp) c.1877-228A>C n.870-4362T>G c.2637A>C (p.Glu879Asp) c.2280A>C (p.Glu760Asp) | |
2 | g.166272727del | CA760206950 | SCN1A-AS1,SCN9A | c.3024del (p.Glu1008AspfsTer4) c.24del (p.Glu8AspfsTer4) c.2991del (p.Glu997AspfsTer4) c.1877-228del n.870-4361del c.2637del (p.Glu879AspfsTer4) c.2280del (p.Glu760AspfsTer4) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166272727T>A | CA349074420 | SCN1A-AS1,SCN9A | c.3023A>T (p.Glu1008Val) c.23A>T (p.Glu8Val) c.2990A>T (p.Glu997Val) c.1877-229A>T n.870-4361T>A c.2636A>T (p.Glu879Val) c.2279A>T (p.Glu760Val) | |
2 | g.166272727T>C | CA349074423 | SCN1A-AS1,SCN9A | c.3023A>G (p.Glu1008Gly) c.23A>G (p.Glu8Gly) c.2990A>G (p.Glu997Gly) c.1877-229A>G n.870-4361T>C c.2636A>G (p.Glu879Gly) c.2279A>G (p.Glu760Gly) | gnomAD v4 |
2 | g.166272727T>G | CA349074426 | SCN1A-AS1,SCN9A | c.3023A>C (p.Glu1008Ala) c.23A>C (p.Glu8Ala) c.2990A>C (p.Glu997Ala) c.1877-229A>C n.870-4361T>G c.2636A>C (p.Glu879Ala) c.2279A>C (p.Glu760Ala) | |
2 | g.166272728C>A | CA349074430 | SCN1A-AS1,SCN9A | c.3022G>T (p.Glu1008Ter) c.22G>T (p.Glu8Ter) c.2989G>T (p.Glu997Ter) c.1877-230G>T n.870-4360C>A c.2635G>T (p.Glu879Ter) c.2278G>T (p.Glu760Ter) | dbSNP gnomAD v4 |
2 | g.166272728C= | CA1304962839 | SCN1A-AS1,SCN9A | c.3022G= (p.Glu1008=) c.22G= (p.Glu8=) c.2989G= (p.Glu997=) c.1877-230G= n.870-4360C= c.2635G= (p.Glu879=) c.2278G= (p.Glu760=) | |
2 | g.166272728C>G | CA349074433 | SCN1A-AS1,SCN9A | c.3022G>C (p.Glu1008Gln) c.22G>C (p.Glu8Gln) c.2989G>C (p.Glu997Gln) c.1877-230G>C n.870-4360C>G c.2635G>C (p.Glu879Gln) c.2278G>C (p.Glu760Gln) | |
2 | g.166272728C>T | CA349074435 | SCN1A-AS1,SCN9A | c.3022G>A (p.Glu1008Lys) c.22G>A (p.Glu8Lys) c.2989G>A (p.Glu997Lys) c.1877-230G>A n.870-4360C>T c.2635G>A (p.Glu879Lys) c.2278G>A (p.Glu760Lys) | |
2 | g.166272729A>C | CA429977994 | SCN1A-AS1,SCN9A | c.3021T>G (p.Arg1007=) c.21T>G (p.Arg7=) c.2988T>G (p.Arg996=) c.1877-231T>G n.870-4359A>C c.2634T>G (p.Arg878=) c.2277T>G (p.Arg759=) | |
2 | g.166272729A>G | CA429977996 | SCN1A-AS1,SCN9A | c.3021T>C (p.Arg1007=) c.21T>C (p.Arg7=) c.2988T>C (p.Arg996=) c.1877-231T>C n.870-4359A>G c.2634T>C (p.Arg878=) c.2277T>C (p.Arg759=) | |
2 | g.166272729A>T | CA429977998 | SCN1A-AS1,SCN9A | c.3021T>A (p.Arg1007=) c.21T>A (p.Arg7=) c.2988T>A (p.Arg996=) c.1877-231T>A n.870-4359A>T c.2634T>A (p.Arg878=) c.2277T>A (p.Arg759=) | |
2 | g.166272730C>A | CA349074441 | SCN1A-AS1,SCN9A | c.3020G>T (p.Arg1007Leu) c.20G>T (p.Arg7Leu) c.2987G>T (p.Arg996Leu) c.1877-232G>T n.870-4358C>A c.2633G>T (p.Arg878Leu) c.2276G>T (p.Arg759Leu) | |
2 | g.166272730C= | CA1304962840 | SCN1A-AS1,SCN9A | c.3020G= (p.Arg1007=) c.20G= (p.Arg7=) c.2987G= (p.Arg996=) c.1877-232G= n.870-4358C= c.2633G= (p.Arg878=) c.2276G= (p.Arg759=) | |
2 | g.166272730C>G | CA349074438 | SCN1A-AS1,SCN9A | c.3020G>C (p.Arg1007Pro) c.20G>C (p.Arg7Pro) c.2987G>C (p.Arg996Pro) c.1877-232G>C n.870-4358C>G c.2633G>C (p.Arg878Pro) c.2276G>C (p.Arg759Pro) | dbSNP |
2 | g.166272730C>T | CA1944153 | SCN1A-AS1,SCN9A | c.3020G>A (p.Arg1007His) c.20G>A (p.Arg7His) c.2987G>A (p.Arg996His) c.1877-232G>A n.870-4358C>T c.2633G>A (p.Arg878His) c.2276G>A (p.Arg759His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272731G>A | CA118140 | SCN1A-AS1,SCN9A | c.3019C>T (p.Arg1007Cys) c.19C>T (p.Arg7Cys) c.2986C>T (p.Arg996Cys) c.1877-233C>T n.870-4357G>A c.2632C>T (p.Arg878Cys) c.2275C>T (p.Arg759Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272731G>C | CA1944154 | SCN1A-AS1,SCN9A | c.3019C>G (p.Arg1007Gly) c.19C>G (p.Arg7Gly) c.2986C>G (p.Arg996Gly) c.1877-233C>G n.870-4357G>C c.2632C>G (p.Arg878Gly) c.2275C>G (p.Arg759Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272731G= | CA1304962841 | SCN1A-AS1,SCN9A | c.3019C= (p.Arg1007=) c.19C= (p.Arg7=) c.2986C= (p.Arg996=) c.1877-233C= n.870-4357G= c.2632C= (p.Arg878=) c.2275C= (p.Arg759=) | |
2 | g.166272731G>T | CA349074448 | SCN1A-AS1,SCN9A | c.3019C>A (p.Arg1007Ser) c.19C>A (p.Arg7Ser) c.2986C>A (p.Arg996Ser) c.1877-233C>A n.870-4357G>T c.2632C>A (p.Arg878Ser) c.2275C>A (p.Arg759Ser) | |
2 | g.166272732T>A | CA349074452 | SCN1A-AS1,SCN9A | c.3018A>T (p.Leu1006Phe) c.18A>T (p.Leu6Phe) c.2985A>T (p.Leu995Phe) c.1877-234A>T n.870-4356T>A c.2631A>T (p.Leu877Phe) c.2274A>T (p.Leu758Phe) | |
2 | g.166272732T>C | CA429978002 | SCN1A-AS1,SCN9A | c.3018A>G (p.Leu1006=) c.18A>G (p.Leu6=) c.2985A>G (p.Leu995=) c.1877-234A>G n.870-4356T>C c.2631A>G (p.Leu877=) c.2274A>G (p.Leu758=) | |
2 | g.166272732T>G | CA349074453 | SCN1A-AS1,SCN9A | c.3018A>C (p.Leu1006Phe) c.18A>C (p.Leu6Phe) c.2985A>C (p.Leu995Phe) c.1877-234A>C n.870-4356T>G c.2631A>C (p.Leu877Phe) c.2274A>C (p.Leu758Phe) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166272732T= | CA1304962842 | SCN1A-AS1,SCN9A | c.3018A= (p.Leu1006=) c.18A= (p.Leu6=) c.2985A= (p.Leu995=) c.1877-234A= n.870-4356T= c.2631A= (p.Leu877=) c.2274A= (p.Leu758=) |