Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.165130138G>ACA429883989SCN3Ac.2673C>T (p.Tyr891=)
c.2724C>T (p.Tyr908=)
c.*565C>T (n.*565C>T)
c.822C>T (p.Tyr274=)
c.2586C>T (p.Tyr862=)
c.2577C>T (p.Tyr859=)
c.834C>T (p.Tyr278=)
 ClinVar dbSNP gnomAD v4
2g.165130138G>CCA349042677SCN3Ac.2673C>G (p.Tyr891Ter)
c.2724C>G (p.Tyr908Ter)
c.*565C>G (n.*565C>G)
c.822C>G (p.Tyr274Ter)
c.2586C>G (p.Tyr862Ter)
c.2577C>G (p.Tyr859Ter)
c.834C>G (p.Tyr278Ter)
2g.165130138G=CA1304452121SCN3Ac.2673C= (p.Tyr891=)
c.2724C= (p.Tyr908=)
c.*565C= (n.*565C=)
c.822C= (p.Tyr274=)
c.2586C= (p.Tyr862=)
c.2577C= (p.Tyr859=)
c.834C= (p.Tyr278=)
2g.165130138G>TCA349042678SCN3Ac.2673C>A (p.Tyr891Ter)
c.2724C>A (p.Tyr908Ter)
c.*565C>A (n.*565C>A)
c.822C>A (p.Tyr274Ter)
c.2586C>A (p.Tyr862Ter)
c.2577C>A (p.Tyr859Ter)
c.834C>A (p.Tyr278Ter)
2g.165130139T>ACA349042679SCN3Ac.2672A>T (p.Tyr891Phe)
c.2723A>T (p.Tyr908Phe)
c.*564A>T (n.*564A>T)
c.821A>T (p.Tyr274Phe)
c.2585A>T (p.Tyr862Phe)
c.2576A>T (p.Tyr859Phe)
c.833A>T (p.Tyr278Phe)
2g.165130139T>CCA349042680SCN3Ac.2672A>G (p.Tyr891Cys)
c.2723A>G (p.Tyr908Cys)
c.*564A>G (n.*564A>G)
c.821A>G (p.Tyr274Cys)
c.2585A>G (p.Tyr862Cys)
c.2576A>G (p.Tyr859Cys)
c.833A>G (p.Tyr278Cys)
 COSMIC COSMIC
2g.165130139T>GCA349042681SCN3Ac.2672A>C (p.Tyr891Ser)
c.2723A>C (p.Tyr908Ser)
c.*564A>C (n.*564A>C)
c.821A>C (p.Tyr274Ser)
c.2585A>C (p.Tyr862Ser)
c.2576A>C (p.Tyr859Ser)
c.833A>C (p.Tyr278Ser)
2g.165130140A>CCA349042682SCN3Ac.2671T>G (p.Tyr891Asp)
c.2722T>G (p.Tyr908Asp)
c.*563T>G (n.*563T>G)
c.820T>G (p.Tyr274Asp)
c.2584T>G (p.Tyr862Asp)
c.2575T>G (p.Tyr859Asp)
c.832T>G (p.Tyr278Asp)
2g.165130140A>GCA349042683SCN3Ac.2671T>C (p.Tyr891His)
c.2722T>C (p.Tyr908His)
c.*563T>C (n.*563T>C)
c.820T>C (p.Tyr274His)
c.2584T>C (p.Tyr862His)
c.2575T>C (p.Tyr859His)
c.832T>C (p.Tyr278His)
 gnomAD v4
2g.165130140A>TCA349042684SCN3Ac.2671T>A (p.Tyr891Asn)
c.2722T>A (p.Tyr908Asn)
c.*563T>A (n.*563T>A)
c.820T>A (p.Tyr274Asn)
c.2584T>A (p.Tyr862Asn)
c.2575T>A (p.Tyr859Asn)
c.832T>A (p.Tyr278Asn)
2g.165130141G>ACA1938907SCN3Ac.2670C>T (p.Ser890=)
c.2721C>T (p.Ser907=)
c.*562C>T (n.*562C>T)
c.819C>T (p.Ser273=)
c.2583C>T (p.Ser861=)
c.2574C>T (p.Ser858=)
c.831C>T (p.Ser277=)
 dbSNP ExAC gnomAD v2
2g.165130141G>CCA349042686SCN3Ac.2670C>G (p.Ser890Arg)
c.2721C>G (p.Ser907Arg)
c.*562C>G (n.*562C>G)
c.819C>G (p.Ser273Arg)
c.2583C>G (p.Ser861Arg)
c.2574C>G (p.Ser858Arg)
c.831C>G (p.Ser277Arg)
2g.165130141G=CA1304452122SCN3Ac.2670C= (p.Ser890=)
c.2721C= (p.Ser907=)
c.*562C= (n.*562C=)
c.819C= (p.Ser273=)
c.2583C= (p.Ser861=)
c.2574C= (p.Ser858=)
c.831C= (p.Ser277=)
2g.165130141G>TCA349042685SCN3Ac.2670C>A (p.Ser890Arg)
c.2721C>A (p.Ser907Arg)
c.*562C>A (n.*562C>A)
c.819C>A (p.Ser273Arg)
c.2583C>A (p.Ser861Arg)
c.2574C>A (p.Ser858Arg)
c.831C>A (p.Ser277Arg)
2g.165130142C>ACA349042687SCN3Ac.2669G>T (p.Ser890Ile)
c.2720G>T (p.Ser907Ile)
c.*561G>T (n.*561G>T)
c.818G>T (p.Ser273Ile)
c.2582G>T (p.Ser861Ile)
c.2573G>T (p.Ser858Ile)
c.830G>T (p.Ser277Ile)
2g.165130142C>GCA349042688SCN3Ac.2669G>C (p.Ser890Thr)
c.2720G>C (p.Ser907Thr)
c.*561G>C (n.*561G>C)
c.818G>C (p.Ser273Thr)
c.2582G>C (p.Ser861Thr)
c.2573G>C (p.Ser858Thr)
c.830G>C (p.Ser277Thr)
2g.165130142C>TCA349042689SCN3Ac.2669G>A (p.Ser890Asn)
c.2720G>A (p.Ser907Asn)
c.*561G>A (n.*561G>A)
c.818G>A (p.Ser273Asn)
c.2582G>A (p.Ser861Asn)
c.2573G>A (p.Ser858Asn)
c.830G>A (p.Ser277Asn)
 COSMIC COSMIC
2g.165130143T>ACA349042690SCN3Ac.2668A>T (p.Ser890Cys)
c.2719A>T (p.Ser907Cys)
c.*560A>T (n.*560A>T)
c.817A>T (p.Ser273Cys)
c.2581A>T (p.Ser861Cys)
c.2572A>T (p.Ser858Cys)
c.829A>T (p.Ser277Cys)
2g.165130143T>CCA349042691SCN3Ac.2668A>G (p.Ser890Gly)
c.2719A>G (p.Ser907Gly)
c.*560A>G (n.*560A>G)
c.817A>G (p.Ser273Gly)
c.2581A>G (p.Ser861Gly)
c.2572A>G (p.Ser858Gly)
c.829A>G (p.Ser277Gly)
 gnomAD v4
2g.165130143T>GCA349042692SCN3Ac.2668A>C (p.Ser890Arg)
c.2719A>C (p.Ser907Arg)
c.*560A>C (n.*560A>C)
c.817A>C (p.Ser273Arg)
c.2581A>C (p.Ser861Arg)
c.2572A>C (p.Ser858Arg)
c.829A>C (p.Ser277Arg)
2g.165130144C>ACA349042693SCN3Ac.2667G>T (p.Lys889Asn)
c.2718G>T (p.Lys906Asn)
c.*559G>T (n.*559G>T)
c.816G>T (p.Lys272Asn)
c.2580G>T (p.Lys860Asn)
c.2571G>T (p.Lys857Asn)
c.828G>T (p.Lys276Asn)
2g.165130144C>GCA349042694SCN3Ac.2667G>C (p.Lys889Asn)
c.2718G>C (p.Lys906Asn)
c.*559G>C (n.*559G>C)
c.816G>C (p.Lys272Asn)
c.2580G>C (p.Lys860Asn)
c.2571G>C (p.Lys857Asn)
c.828G>C (p.Lys276Asn)
 gnomAD v4 COSMIC COSMIC
2g.165130144C>TCA429883990SCN3Ac.2667G>A (p.Lys889=)
c.2718G>A (p.Lys906=)
c.*559G>A (n.*559G>A)
c.816G>A (p.Lys272=)
c.2580G>A (p.Lys860=)
c.2571G>A (p.Lys857=)
c.828G>A (p.Lys276=)
 gnomAD v4
2g.165130145T>ACA349042695SCN3Ac.2666A>T (p.Lys889Met)
c.2717A>T (p.Lys906Met)
c.*558A>T (n.*558A>T)
c.815A>T (p.Lys272Met)
c.2579A>T (p.Lys860Met)
c.2570A>T (p.Lys857Met)
c.827A>T (p.Lys276Met)
2g.165130145T>CCA349042696SCN3Ac.2666A>G (p.Lys889Arg)
c.2717A>G (p.Lys906Arg)
c.*558A>G (n.*558A>G)
c.815A>G (p.Lys272Arg)
c.2579A>G (p.Lys860Arg)
c.2570A>G (p.Lys857Arg)
c.827A>G (p.Lys276Arg)
2g.165130145T>GCA349042697SCN3Ac.2666A>C (p.Lys889Thr)
c.2717A>C (p.Lys906Thr)
c.*558A>C (n.*558A>C)
c.815A>C (p.Lys272Thr)
c.2579A>C (p.Lys860Thr)
c.2570A>C (p.Lys857Thr)
c.827A>C (p.Lys276Thr)
2g.165130146T>ACA349042698SCN3Ac.2665A>T (p.Lys889Ter)
c.2716A>T (p.Lys906Ter)
c.*557A>T (n.*557A>T)
c.814A>T (p.Lys272Ter)
c.2578A>T (p.Lys860Ter)
c.2569A>T (p.Lys857Ter)
c.826A>T (p.Lys276Ter)
2g.165130146T>CCA349042699SCN3Ac.2665A>G (p.Lys889Glu)
c.2716A>G (p.Lys906Glu)
c.*557A>G (n.*557A>G)
c.814A>G (p.Lys272Glu)
c.2578A>G (p.Lys860Glu)
c.2569A>G (p.Lys857Glu)
c.826A>G (p.Lys276Glu)
2g.165130146T>GCA349042700SCN3Ac.2665A>C (p.Lys889Gln)
c.2716A>C (p.Lys906Gln)
c.*557A>C (n.*557A>C)
c.814A>C (p.Lys272Gln)
c.2578A>C (p.Lys860Gln)
c.2569A>C (p.Lys857Gln)
c.826A>C (p.Lys276Gln)
2g.165130147A=CA1304452123SCN3Ac.2664T= (p.Gly888=)
c.2715T= (p.Gly905=)
c.*556T= (n.*556T=)
c.813T= (p.Gly271=)
c.2577T= (p.Gly859=)
c.2568T= (p.Gly856=)
c.825T= (p.Gly275=)
2g.165130147A>CCA429883991SCN3Ac.2664T>G (p.Gly888=)
c.2715T>G (p.Gly905=)
c.*556T>G (n.*556T>G)
c.813T>G (p.Gly271=)
c.2577T>G (p.Gly859=)
c.2568T>G (p.Gly856=)
c.825T>G (p.Gly275=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.165130147A>GCA429883992SCN3Ac.2664T>C (p.Gly888=)
c.2715T>C (p.Gly905=)
c.*556T>C (n.*556T>C)
c.813T>C (p.Gly271=)
c.2577T>C (p.Gly859=)
c.2568T>C (p.Gly856=)
c.825T>C (p.Gly275=)
2g.165130147A>TCA429883993SCN3Ac.2664T>A (p.Gly888=)
c.2715T>A (p.Gly905=)
c.*556T>A (n.*556T>A)
c.813T>A (p.Gly271=)
c.2577T>A (p.Gly859=)
c.2568T>A (p.Gly856=)
c.825T>A (p.Gly275=)
2g.165130148C>ACA349042703SCN3Ac.2663G>T (p.Gly888Val)
c.2714G>T (p.Gly905Val)
c.*555G>T (n.*555G>T)
c.812G>T (p.Gly271Val)
c.2576G>T (p.Gly859Val)
c.2567G>T (p.Gly856Val)
c.824G>T (p.Gly275Val)
2g.165130148C>GCA349042702SCN3Ac.2663G>C (p.Gly888Ala)
c.2714G>C (p.Gly905Ala)
c.*555G>C (n.*555G>C)
c.812G>C (p.Gly271Ala)
c.2576G>C (p.Gly859Ala)
c.2567G>C (p.Gly856Ala)
c.824G>C (p.Gly275Ala)
2g.165130148C>TCA349042701SCN3Ac.2663G>A (p.Gly888Asp)
c.2714G>A (p.Gly905Asp)
c.*555G>A (n.*555G>A)
c.812G>A (p.Gly271Asp)
c.2576G>A (p.Gly859Asp)
c.2567G>A (p.Gly856Asp)
c.824G>A (p.Gly275Asp)
2g.165130149C>ACA349042704SCN2A,SCN3Ac.2662G>T (p.Gly888Cys)
c.2713G>T (p.Gly905Cys)
c.*554G>T (n.*554G>T)
c.811G>T (p.Gly271Cys)
c.2575G>T (p.Gly859Cys)
c.2566G>T (p.Gly856Cys)
c.-180C>A (n.-180C>A)
c.-333C>A (n.-333C>A)
c.823G>T (p.Gly275Cys)
2g.165130149C>GCA349042705SCN2A,SCN3Ac.2662G>C (p.Gly888Arg)
c.2713G>C (p.Gly905Arg)
c.*554G>C (n.*554G>C)
c.811G>C (p.Gly271Arg)
c.2575G>C (p.Gly859Arg)
c.2566G>C (p.Gly856Arg)
c.-180C>G (n.-180C>G)
c.-333C>G (n.-333C>G)
c.823G>C (p.Gly275Arg)
 ClinVar
2g.165130149C>TCA349042706SCN2A,SCN3Ac.2662G>A (p.Gly888Ser)
c.2713G>A (p.Gly905Ser)
c.*554G>A (n.*554G>A)
c.811G>A (p.Gly271Ser)
c.2575G>A (p.Gly859Ser)
c.2566G>A (p.Gly856Ser)
c.-180C>T (n.-180C>T)
c.-333C>T (n.-333C>T)
c.823G>A (p.Gly275Ser)
2g.165130150A>CCA349042707SCN2A,SCN3Ac.2661T>G (p.Phe887Leu)
c.2712T>G (p.Phe904Leu)
c.*553T>G (n.*553T>G)
c.810T>G (p.Phe270Leu)
c.2574T>G (p.Phe858Leu)
c.2565T>G (p.Phe855Leu)
c.-179A>C (n.-179A>C)
c.-332A>C (n.-332A>C)
c.822T>G (p.Phe274Leu)
2g.165130150A>GCA429883994SCN2A,SCN3Ac.2661T>C (p.Phe887=)
c.2712T>C (p.Phe904=)
c.*553T>C (n.*553T>C)
c.810T>C (p.Phe270=)
c.2574T>C (p.Phe858=)
c.2565T>C (p.Phe855=)
c.-179A>G (n.-179A>G)
c.-332A>G (n.-332A>G)
c.822T>C (p.Phe274=)
 gnomAD v4
2g.165130150A>TCA349042708SCN2A,SCN3Ac.2661T>A (p.Phe887Leu)
c.2712T>A (p.Phe904Leu)
c.*553T>A (n.*553T>A)
c.810T>A (p.Phe270Leu)
c.2574T>A (p.Phe858Leu)
c.2565T>A (p.Phe855Leu)
c.-179A>T (n.-179A>T)
c.-332A>T (n.-332A>T)
c.822T>A (p.Phe274Leu)
2g.165130151A>CCA349042709SCN2A,SCN3Ac.2660T>G (p.Phe887Cys)
c.2711T>G (p.Phe904Cys)
c.*552T>G (n.*552T>G)
c.809T>G (p.Phe270Cys)
c.2573T>G (p.Phe858Cys)
c.2564T>G (p.Phe855Cys)
c.-178A>C (n.-178A>C)
c.-331A>C (n.-331A>C)
c.821T>G (p.Phe274Cys)
2g.165130151A>GCA349042710SCN2A,SCN3Ac.2660T>C (p.Phe887Ser)
c.2711T>C (p.Phe904Ser)
c.*552T>C (n.*552T>C)
c.809T>C (p.Phe270Ser)
c.2573T>C (p.Phe858Ser)
c.2564T>C (p.Phe855Ser)
c.-178A>G (n.-178A>G)
c.-331A>G (n.-331A>G)
c.821T>C (p.Phe274Ser)
2g.165130151A>TCA349042711SCN2A,SCN3Ac.2660T>A (p.Phe887Tyr)
c.2711T>A (p.Phe904Tyr)
c.*552T>A (n.*552T>A)
c.809T>A (p.Phe270Tyr)
c.2573T>A (p.Phe858Tyr)
c.2564T>A (p.Phe855Tyr)
c.-178A>T (n.-178A>T)
c.-331A>T (n.-331A>T)
c.821T>A (p.Phe274Tyr)
2g.165130152A>CCA349042712SCN2A,SCN3Ac.2659T>G (p.Phe887Val)
c.2710T>G (p.Phe904Val)
c.*551T>G (n.*551T>G)
c.808T>G (p.Phe270Val)
c.2572T>G (p.Phe858Val)
c.2563T>G (p.Phe855Val)
c.-177A>C (n.-177A>C)
c.-330A>C (n.-330A>C)
c.820T>G (p.Phe274Val)
2g.165130152A>GCA349042714SCN2A,SCN3Ac.2659T>C (p.Phe887Leu)
c.2710T>C (p.Phe904Leu)
c.*551T>C (n.*551T>C)
c.808T>C (p.Phe270Leu)
c.2572T>C (p.Phe858Leu)
c.2563T>C (p.Phe855Leu)
c.-177A>G (n.-177A>G)
c.-330A>G (n.-330A>G)
c.820T>C (p.Phe274Leu)
2g.165130152A>TCA349042713SCN2A,SCN3Ac.2659T>A (p.Phe887Ile)
c.2710T>A (p.Phe904Ile)
c.*551T>A (n.*551T>A)
c.808T>A (p.Phe270Ile)
c.2572T>A (p.Phe858Ile)
c.2563T>A (p.Phe855Ile)
c.-177A>T (n.-177A>T)
c.-330A>T (n.-330A>T)
c.820T>A (p.Phe274Ile)
2g.165130153G>ACA1938908SCN2A,SCN3Ac.2658C>T (p.Leu886=)
c.2709C>T (p.Leu903=)
c.*550C>T (n.*550C>T)
c.807C>T (p.Leu269=)
c.2571C>T (p.Leu857=)
c.2562C>T (p.Leu854=)
c.-176G>A (n.-176G>A)
c.-329G>A (n.-329G>A)
c.819C>T (p.Leu273=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.165130153G>CCA429883995SCN2A,SCN3Ac.2658C>G (p.Leu886=)
c.2709C>G (p.Leu903=)
c.*550C>G (n.*550C>G)
c.807C>G (p.Leu269=)
c.2571C>G (p.Leu857=)
c.2562C>G (p.Leu854=)
c.-176G>C (n.-176G>C)
c.-329G>C (n.-329G>C)
c.819C>G (p.Leu273=)
2g.165130153G=CA1304452124SCN2A,SCN3Ac.2658C= (p.Leu886=)
c.2709C= (p.Leu903=)
c.*550C= (n.*550C=)
c.807C= (p.Leu269=)
c.2571C= (p.Leu857=)
c.2562C= (p.Leu854=)
c.-176G= (n.-176G=)
c.-329G= (n.-329G=)
c.819C= (p.Leu273=)
2g.165130153G>TCA429883996SCN2A,SCN3Ac.2658C>A (p.Leu886=)
c.2709C>A (p.Leu903=)
c.*550C>A (n.*550C>A)
c.807C>A (p.Leu269=)
c.2571C>A (p.Leu857=)
c.2562C>A (p.Leu854=)
c.-176G>T (n.-176G>T)
c.-329G>T (n.-329G>T)
c.819C>A (p.Leu273=)
2g.165130154A>CCA349042715SCN2A,SCN3Ac.2657T>G (p.Leu886Arg)
c.2708T>G (p.Leu903Arg)
c.*549T>G (n.*549T>G)
c.806T>G (p.Leu269Arg)
c.2570T>G (p.Leu857Arg)
c.2561T>G (p.Leu854Arg)
c.-175A>C (n.-175A>C)
c.-328A>C (n.-328A>C)
c.818T>G (p.Leu273Arg)
2g.165130154A>GCA349042716SCN2A,SCN3Ac.2657T>C (p.Leu886Pro)
c.2708T>C (p.Leu903Pro)
c.*549T>C (n.*549T>C)
c.806T>C (p.Leu269Pro)
c.2570T>C (p.Leu857Pro)
c.2561T>C (p.Leu854Pro)
c.-175A>G (n.-175A>G)
c.-328A>G (n.-328A>G)
c.818T>C (p.Leu273Pro)
2g.165130154A>TCA349042717SCN2A,SCN3Ac.2657T>A (p.Leu886His)
c.2708T>A (p.Leu903His)
c.*549T>A (n.*549T>A)
c.806T>A (p.Leu269His)
c.2570T>A (p.Leu857His)
c.2561T>A (p.Leu854His)
c.-175A>T (n.-175A>T)
c.-328A>T (n.-328A>T)
c.818T>A (p.Leu273His)
2g.165130155G>ACA349042718SCN2A,SCN3Ac.2656C>T (p.Leu886Phe)
c.2707C>T (p.Leu903Phe)
c.*548C>T (n.*548C>T)
c.805C>T (p.Leu269Phe)
c.2569C>T (p.Leu857Phe)
c.2560C>T (p.Leu854Phe)
c.-174G>A (n.-174G>A)
c.-327G>A (n.-327G>A)
c.817C>T (p.Leu273Phe)
2g.165130155G>CCA349042720SCN2A,SCN3Ac.2656C>G (p.Leu886Val)
c.2707C>G (p.Leu903Val)
c.*548C>G (n.*548C>G)
c.805C>G (p.Leu269Val)
c.2569C>G (p.Leu857Val)
c.2560C>G (p.Leu854Val)
c.-174G>C (n.-174G>C)
c.-327G>C (n.-327G>C)
c.817C>G (p.Leu273Val)
2g.165130155G>TCA349042719SCN2A,SCN3Ac.2656C>A (p.Leu886Ile)
c.2707C>A (p.Leu903Ile)
c.*548C>A (n.*548C>A)
c.805C>A (p.Leu269Ile)
c.2569C>A (p.Leu857Ile)
c.2560C>A (p.Leu854Ile)
c.-174G>T (n.-174G>T)
c.-327G>T (n.-327G>T)
c.817C>A (p.Leu273Ile)
2g.165130156C>ACA349042721SCN2A,SCN3Ac.2655G>T (p.Gln885His)
c.2706G>T (p.Gln902His)
c.*547G>T (n.*547G>T)
c.804G>T (p.Gln268His)
c.2568G>T (p.Gln856His)
c.2559G>T (p.Gln853His)
c.-173C>A (n.-173C>A)
c.-326C>A (n.-326C>A)
c.816G>T (p.Gln272His)
2g.165130156C>GCA349042722SCN2A,SCN3Ac.2655G>C (p.Gln885His)
c.2706G>C (p.Gln902His)
c.*547G>C (n.*547G>C)
c.804G>C (p.Gln268His)
c.2568G>C (p.Gln856His)
c.2559G>C (p.Gln853His)
c.-173C>G (n.-173C>G)
c.-326C>G (n.-326C>G)
c.816G>C (p.Gln272His)
2g.165130156C>TCA429883997SCN2A,SCN3Ac.2655G>A (p.Gln885=)
c.2706G>A (p.Gln902=)
c.*547G>A (n.*547G>A)
c.804G>A (p.Gln268=)
c.2568G>A (p.Gln856=)
c.2559G>A (p.Gln853=)
c.-173C>T (n.-173C>T)
c.-326C>T (n.-326C>T)
c.816G>A (p.Gln272=)
2g.165130157T>ACA349042723SCN2A,SCN3Ac.2654A>T (p.Gln885Leu)
c.2705A>T (p.Gln902Leu)
c.*546A>T (n.*546A>T)
c.803A>T (p.Gln268Leu)
c.2567A>T (p.Gln856Leu)
c.2558A>T (p.Gln853Leu)
c.-172T>A (n.-172T>A)
c.-440T>A (n.-440T>A)
c.-325T>A (n.-325T>A)
c.815A>T (p.Gln272Leu)
2g.165130157T>CCA349042724SCN2A,SCN3Ac.2654A>G (p.Gln885Arg)
c.2705A>G (p.Gln902Arg)
c.*546A>G (n.*546A>G)
c.803A>G (p.Gln268Arg)
c.2567A>G (p.Gln856Arg)
c.2558A>G (p.Gln853Arg)
c.-172T>C (n.-172T>C)
c.-440T>C (n.-440T>C)
c.-325T>C (n.-325T>C)
c.815A>G (p.Gln272Arg)
2g.165130157T>GCA349042725SCN2A,SCN3Ac.2654A>C (p.Gln885Pro)
c.2705A>C (p.Gln902Pro)
c.*546A>C (n.*546A>C)
c.803A>C (p.Gln268Pro)
c.2567A>C (p.Gln856Pro)
c.2558A>C (p.Gln853Pro)
c.-172T>G (n.-172T>G)
c.-440T>G (n.-440T>G)
c.-325T>G (n.-325T>G)
c.815A>C (p.Gln272Pro)
2g.165130158G>ACA349042726SCN2A,SCN3Ac.2653C>T (p.Gln885Ter)
c.2704C>T (p.Gln902Ter)
c.*545C>T (n.*545C>T)
c.802C>T (p.Gln268Ter)
c.2566C>T (p.Gln856Ter)
c.2557C>T (p.Gln853Ter)
c.-171G>A (n.-171G>A)
c.-439G>A (n.-439G>A)
c.-324G>A (n.-324G>A)
c.814C>T (p.Gln272Ter)
2g.165130158G>CCA349042727SCN2A,SCN3Ac.2653C>G (p.Gln885Glu)
c.2704C>G (p.Gln902Glu)
c.*545C>G (n.*545C>G)
c.802C>G (p.Gln268Glu)
c.2566C>G (p.Gln856Glu)
c.2557C>G (p.Gln853Glu)
c.-171G>C (n.-171G>C)
c.-439G>C (n.-439G>C)
c.-324G>C (n.-324G>C)
c.814C>G (p.Gln272Glu)
2g.165130158G>TCA349042728SCN2A,SCN3Ac.2653C>A (p.Gln885Lys)
c.2704C>A (p.Gln902Lys)
c.*545C>A (n.*545C>A)
c.802C>A (p.Gln268Lys)
c.2566C>A (p.Gln856Lys)
c.2557C>A (p.Gln853Lys)
c.-171G>T (n.-171G>T)
c.-439G>T (n.-439G>T)
c.-324G>T (n.-324G>T)
c.814C>A (p.Gln272Lys)
 gnomAD v4
2g.165130159C>ACA349042729SCN2A,SCN3Ac.2652G>T (p.Met884Ile)
c.2703G>T (p.Met901Ile)
c.*544G>T (n.*544G>T)
c.801G>T (p.Met267Ile)
c.2565G>T (p.Met855Ile)
c.2556G>T (p.Met852Ile)
c.-170C>A (n.-170C>A)
c.-438C>A (n.-438C>A)
c.-323C>A (n.-323C>A)
c.813G>T (p.Met271Ile)
 gnomAD v4
2g.165130159C>GCA349042730SCN2A,SCN3Ac.2652G>C (p.Met884Ile)
c.2703G>C (p.Met901Ile)
c.*544G>C (n.*544G>C)
c.801G>C (p.Met267Ile)
c.2565G>C (p.Met855Ile)
c.2556G>C (p.Met852Ile)
c.-170C>G (n.-170C>G)
c.-438C>G (n.-438C>G)
c.-323C>G (n.-323C>G)
c.813G>C (p.Met271Ile)
2g.165130159C>TCA349042731SCN2A,SCN3Ac.2652G>A (p.Met884Ile)
c.2703G>A (p.Met901Ile)
c.*544G>A (n.*544G>A)
c.801G>A (p.Met267Ile)
c.2565G>A (p.Met855Ile)
c.2556G>A (p.Met852Ile)
c.-170C>T (n.-170C>T)
c.-438C>T (n.-438C>T)
c.-323C>T (n.-323C>T)
c.813G>A (p.Met271Ile)
2g.165130160A=CA1304452125SCN2A,SCN3Ac.2651T= (p.Met884=)
c.2702T= (p.Met901=)
c.*543T= (n.*543T=)
c.800T= (p.Met267=)
c.2564T= (p.Met855=)
c.2555T= (p.Met852=)
c.-169A= (n.-169A=)
c.-437A= (n.-437A=)
c.-322A= (n.-322A=)
c.812T= (p.Met271=)
2g.165130160A>CCA349042732SCN2A,SCN3Ac.2651T>G (p.Met884Arg)
c.2702T>G (p.Met901Arg)
c.*543T>G (n.*543T>G)
c.800T>G (p.Met267Arg)
c.2564T>G (p.Met855Arg)
c.2555T>G (p.Met852Arg)
c.-169A>C (n.-169A>C)
c.-437A>C (n.-437A>C)
c.-322A>C (n.-322A>C)
c.812T>G (p.Met271Arg)
2g.165130160A>GCA16617254SCN2A,SCN3Ac.2651T>C (p.Met884Thr)
c.2702T>C (p.Met901Thr)
c.*543T>C (n.*543T>C)
c.800T>C (p.Met267Thr)
c.2564T>C (p.Met855Thr)
c.2555T>C (p.Met852Thr)
c.-169A>G (n.-169A>G)
c.-437A>G (n.-437A>G)
c.-322A>G (n.-322A>G)
c.812T>C (p.Met271Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.165130160A>TCA349042733SCN2A,SCN3Ac.2651T>A (p.Met884Lys)
c.2702T>A (p.Met901Lys)
c.*543T>A (n.*543T>A)
c.800T>A (p.Met267Lys)
c.2564T>A (p.Met855Lys)
c.2555T>A (p.Met852Lys)
c.-169A>T (n.-169A>T)
c.-437A>T (n.-437A>T)
c.-322A>T (n.-322A>T)
c.812T>A (p.Met271Lys)
 ClinVar dbSNP
2g.165130161T>ACA349042734SCN2A,SCN3Ac.2650A>T (p.Met884Leu)
c.2701A>T (p.Met901Leu)
c.*542A>T (n.*542A>T)
c.799A>T (p.Met267Leu)
c.2563A>T (p.Met855Leu)
c.2554A>T (p.Met852Leu)
c.-168T>A (n.-168T>A)
c.-436T>A (n.-436T>A)
c.-321T>A (n.-321T>A)
c.811A>T (p.Met271Leu)
2g.165130161T>CCA349042736SCN2A,SCN3Ac.2650A>G (p.Met884Val)
c.2701A>G (p.Met901Val)
c.*542A>G (n.*542A>G)
c.799A>G (p.Met267Val)
c.2563A>G (p.Met855Val)
c.2554A>G (p.Met852Val)
c.-168T>C (n.-168T>C)
c.-436T>C (n.-436T>C)
c.-321T>C (n.-321T>C)
c.811A>G (p.Met271Val)
2g.165130161T>GCA349042735SCN2A,SCN3Ac.2650A>C (p.Met884Leu)
c.2701A>C (p.Met901Leu)
c.*542A>C (n.*542A>C)
c.799A>C (p.Met267Leu)
c.2563A>C (p.Met855Leu)
c.2554A>C (p.Met852Leu)
c.-168T>G (n.-168T>G)
c.-436T>G (n.-436T>G)
c.-321T>G (n.-321T>G)
c.811A>C (p.Met271Leu)
2g.165130162G>ACA429883999SCN2A,SCN3Ac.2649C>T (p.Gly883=)
c.2700C>T (p.Gly900=)
c.*541C>T (n.*541C>T)
c.798C>T (p.Gly266=)
c.2562C>T (p.Gly854=)
c.2553C>T (p.Gly851=)
c.-167G>A (n.-167G>A)
c.-435G>A (n.-435G>A)
c.-320G>A (n.-320G>A)
c.810C>T (p.Gly270=)
2g.165130162G>CCA429884000SCN2A,SCN3Ac.2649C>G (p.Gly883=)
c.2700C>G (p.Gly900=)
c.*541C>G (n.*541C>G)
c.798C>G (p.Gly266=)
c.2562C>G (p.Gly854=)
c.2553C>G (p.Gly851=)
c.-167G>C (n.-167G>C)
c.-435G>C (n.-435G>C)
c.-320G>C (n.-320G>C)
c.810C>G (p.Gly270=)
2g.165130162G>TCA429883998SCN2A,SCN3Ac.2649C>A (p.Gly883=)
c.2700C>A (p.Gly900=)
c.*541C>A (n.*541C>A)
c.798C>A (p.Gly266=)
c.2562C>A (p.Gly854=)
c.2553C>A (p.Gly851=)
c.-167G>T (n.-167G>T)
c.-435G>T (n.-435G>T)
c.-320G>T (n.-320G>T)
c.810C>A (p.Gly270=)
2g.165130163C>ACA349042737SCN2A,SCN3Ac.2648G>T (p.Gly883Val)
c.2699G>T (p.Gly900Val)
c.*540G>T (n.*540G>T)
c.797G>T (p.Gly266Val)
c.2561G>T (p.Gly854Val)
c.2552G>T (p.Gly851Val)
c.-166C>A (n.-166C>A)
c.-434C>A (n.-434C>A)
c.-319C>A (n.-319C>A)
c.809G>T (p.Gly270Val)
2g.165130163C=CA1304452126SCN2A,SCN3Ac.2648G= (p.Gly883=)
c.2699G= (p.Gly900=)
c.*540G= (n.*540G=)
c.797G= (p.Gly266=)
c.2561G= (p.Gly854=)
c.2552G= (p.Gly851=)
c.-166C= (n.-166C=)
c.-434C= (n.-434C=)
c.-319C= (n.-319C=)
c.809G= (p.Gly270=)
2g.165130163C>GCA349042738SCN2A,SCN3Ac.2648G>C (p.Gly883Ala)
c.2699G>C (p.Gly900Ala)
c.*540G>C (n.*540G>C)
c.797G>C (p.Gly266Ala)
c.2561G>C (p.Gly854Ala)
c.2552G>C (p.Gly851Ala)
c.-166C>G (n.-166C>G)
c.-434C>G (n.-434C>G)
c.-319C>G (n.-319C>G)
c.809G>C (p.Gly270Ala)
2g.165130163C>TCA59734286SCN2A,SCN3Ac.2648G>A (p.Gly883Asp)
c.2699G>A (p.Gly900Asp)
c.*540G>A (n.*540G>A)
c.797G>A (p.Gly266Asp)
c.2561G>A (p.Gly854Asp)
c.2552G>A (p.Gly851Asp)
c.-166C>T (n.-166C>T)
c.-434C>T (n.-434C>T)
c.-319C>T (n.-319C>T)
c.809G>A (p.Gly270Asp)
 dbSNP
2g.165130164C>ACA349042739SCN2A,SCN3Ac.2647G>T (p.Gly883Cys)
c.2698G>T (p.Gly900Cys)
c.*539G>T (n.*539G>T)
c.796G>T (p.Gly266Cys)
c.2560G>T (p.Gly854Cys)
c.2551G>T (p.Gly851Cys)
c.-165C>A (n.-165C>A)
c.-433C>A (n.-433C>A)
c.-318C>A (n.-318C>A)
c.808G>T (p.Gly270Cys)
2g.165130164C=CA1304452127SCN2A,SCN3Ac.2647G= (p.Gly883=)
c.2698G= (p.Gly900=)
c.*539G= (n.*539G=)
c.796G= (p.Gly266=)
c.2560G= (p.Gly854=)
c.2551G= (p.Gly851=)
c.-165C= (n.-165C=)
c.-433C= (n.-433C=)
c.-318C= (n.-318C=)
c.808G= (p.Gly270=)
2g.165130164C>GCA349042740SCN2A,SCN3Ac.2647G>C (p.Gly883Arg)
c.2698G>C (p.Gly900Arg)
c.*539G>C (n.*539G>C)
c.796G>C (p.Gly266Arg)
c.2560G>C (p.Gly854Arg)
c.2551G>C (p.Gly851Arg)
c.-165C>G (n.-165C>G)
c.-433C>G (n.-433C>G)
c.-318C>G (n.-318C>G)
c.808G>C (p.Gly270Arg)
2g.165130164C>TCA1938909SCN2A,SCN3Ac.2647G>A (p.Gly883Ser)
c.2698G>A (p.Gly900Ser)
c.*539G>A (n.*539G>A)
c.796G>A (p.Gly266Ser)
c.2560G>A (p.Gly854Ser)
c.2551G>A (p.Gly851Ser)
c.-165C>T (n.-165C>T)
c.-433C>T (n.-433C>T)
c.-318C>T (n.-318C>T)
c.808G>A (p.Gly270Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165130165G>ACA1938910SCN2A,SCN3Ac.2646C>T (p.Val882=)
c.2697C>T (p.Val899=)
c.*538C>T (n.*538C>T)
c.795C>T (p.Val265=)
c.2559C>T (p.Val853=)
c.2550C>T (p.Val850=)
c.-164G>A (n.-164G>A)
c.-432G>A (n.-432G>A)
c.-317G>A (n.-317G>A)
c.807C>T (p.Val269=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165130165G>CCA429884001SCN2A,SCN3Ac.2646C>G (p.Val882=)
c.2697C>G (p.Val899=)
c.*538C>G (n.*538C>G)
c.795C>G (p.Val265=)
c.2559C>G (p.Val853=)
c.2550C>G (p.Val850=)
c.-164G>C (n.-164G>C)
c.-432G>C (n.-432G>C)
c.-317G>C (n.-317G>C)
c.807C>G (p.Val269=)
2g.165130165G=CA1304452128SCN2A,SCN3Ac.2646C= (p.Val882=)
c.2697C= (p.Val899=)
c.*538C= (n.*538C=)
c.795C= (p.Val265=)
c.2559C= (p.Val853=)
c.2550C= (p.Val850=)
c.-164G= (n.-164G=)
c.-432G= (n.-432G=)
c.-317G= (n.-317G=)
c.807C= (p.Val269=)
2g.165130165G>TCA429884002SCN2A,SCN3Ac.2646C>A (p.Val882=)
c.2697C>A (p.Val899=)
c.*538C>A (n.*538C>A)
c.795C>A (p.Val265=)
c.2559C>A (p.Val853=)
c.2550C>A (p.Val850=)
c.-164G>T (n.-164G>T)
c.-432G>T (n.-432G>T)
c.-317G>T (n.-317G>T)
c.807C>A (p.Val269=)
2g.165130166A>CCA349042741SCN2A,SCN3Ac.2645T>G (p.Val882Gly)
c.2696T>G (p.Val899Gly)
c.*537T>G (n.*537T>G)
c.794T>G (p.Val265Gly)
c.2558T>G (p.Val853Gly)
c.2549T>G (p.Val850Gly)
c.-163A>C (n.-163A>C)
c.-431A>C (n.-431A>C)
c.-316A>C (n.-316A>C)
c.806T>G (p.Val269Gly)
2g.165130166A>GCA349042742SCN2A,SCN3Ac.2645T>C (p.Val882Ala)
c.2696T>C (p.Val899Ala)
c.*537T>C (n.*537T>C)
c.794T>C (p.Val265Ala)
c.2558T>C (p.Val853Ala)
c.2549T>C (p.Val850Ala)
c.-163A>G (n.-163A>G)
c.-431A>G (n.-431A>G)
c.-316A>G (n.-316A>G)
c.806T>C (p.Val269Ala)
 COSMIC COSMIC
2g.165130166A>TCA349042743SCN2A,SCN3Ac.2645T>A (p.Val882Asp)
c.2696T>A (p.Val899Asp)
c.*537T>A (n.*537T>A)
c.794T>A (p.Val265Asp)
c.2558T>A (p.Val853Asp)
c.2549T>A (p.Val850Asp)
c.-163A>T (n.-163A>T)
c.-431A>T (n.-431A>T)
c.-316A>T (n.-316A>T)
c.806T>A (p.Val269Asp)
2g.165130167C>ACA349042744SCN2A,SCN3Ac.2644G>T (p.Val882Phe)
c.2695G>T (p.Val899Phe)
c.*536G>T (n.*536G>T)
c.793G>T (p.Val265Phe)
c.2557G>T (p.Val853Phe)
c.2548G>T (p.Val850Phe)
c.-162C>A (n.-162C>A)
c.-430C>A (n.-430C>A)
c.-315C>A (n.-315C>A)
c.805G>T (p.Val269Phe)
2g.165130167C>GCA349042745SCN2A,SCN3Ac.2644G>C (p.Val882Leu)
c.2695G>C (p.Val899Leu)
c.*536G>C (n.*536G>C)
c.793G>C (p.Val265Leu)
c.2557G>C (p.Val853Leu)
c.2548G>C (p.Val850Leu)
c.-162C>G (n.-162C>G)
c.-430C>G (n.-430C>G)
c.-315C>G (n.-315C>G)
c.805G>C (p.Val269Leu)
2g.165130167C>TCA349042746SCN2A,SCN3Ac.2644G>A (p.Val882Ile)
c.2695G>A (p.Val899Ile)
c.*536G>A (n.*536G>A)
c.793G>A (p.Val265Ile)
c.2557G>A (p.Val853Ile)
c.2548G>A (p.Val850Ile)
c.-162C>T (n.-162C>T)
c.-430C>T (n.-430C>T)
c.-315C>T (n.-315C>T)
c.805G>A (p.Val269Ile)
2g.165130168C>ACA429884004SCN2A,SCN3Ac.2643G>T (p.Val881=)
c.2694G>T (p.Val898=)
c.*535G>T (n.*535G>T)
c.792G>T (p.Val264=)
c.2556G>T (p.Val852=)
c.2547G>T (p.Val849=)
c.-161C>A (n.-161C>A)
c.-429C>A (n.-429C>A)
c.-314C>A (n.-314C>A)
c.804G>T (p.Val268=)
2g.165130168C=CA1304452129SCN2A,SCN3Ac.2643G= (p.Val881=)
c.2694G= (p.Val898=)
c.*535G= (n.*535G=)
c.792G= (p.Val264=)
c.2556G= (p.Val852=)
c.2547G= (p.Val849=)
c.-161C= (n.-161C=)
c.-429C= (n.-429C=)
c.-314C= (n.-314C=)
c.804G= (p.Val268=)
2g.165130168C>GCA429884003SCN2A,SCN3Ac.2643G>C (p.Val881=)
c.2694G>C (p.Val898=)
c.*535G>C (n.*535G>C)
c.792G>C (p.Val264=)
c.2556G>C (p.Val852=)
c.2547G>C (p.Val849=)
c.-161C>G (n.-161C>G)
c.-429C>G (n.-429C>G)
c.-314C>G (n.-314C>G)
c.804G>C (p.Val268=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.165130168C>TCA59734308SCN2A,SCN3Ac.2643G>A (p.Val881=)
c.2694G>A (p.Val898=)
c.*535G>A (n.*535G>A)
c.792G>A (p.Val264=)
c.2556G>A (p.Val852=)
c.2547G>A (p.Val849=)
c.-161C>T (n.-161C>T)
c.-429C>T (n.-429C>T)
c.-314C>T (n.-314C>T)
c.804G>A (p.Val268=)
 dbSNP COSMIC
2g.165130169A>CCA349042749SCN2A,SCN3Ac.2642T>G (p.Val881Gly)
c.2693T>G (p.Val898Gly)
c.*534T>G (n.*534T>G)
c.791T>G (p.Val264Gly)
c.2555T>G (p.Val852Gly)
c.2546T>G (p.Val849Gly)
c.-160A>C (n.-160A>C)
c.-428A>C (n.-428A>C)
c.-313A>C (n.-313A>C)
c.803T>G (p.Val268Gly)
2g.165130169A>GCA349042748SCN2A,SCN3Ac.2642T>C (p.Val881Ala)
c.2693T>C (p.Val898Ala)
c.*534T>C (n.*534T>C)
c.791T>C (p.Val264Ala)
c.2555T>C (p.Val852Ala)
c.2546T>C (p.Val849Ala)
c.-160A>G (n.-160A>G)
c.-428A>G (n.-428A>G)
c.-313A>G (n.-313A>G)
c.803T>C (p.Val268Ala)
 gnomAD v4
2g.165130169A>TCA349042747SCN2A,SCN3Ac.2642T>A (p.Val881Glu)
c.2693T>A (p.Val898Glu)
c.*534T>A (n.*534T>A)
c.791T>A (p.Val264Glu)
c.2555T>A (p.Val852Glu)
c.2546T>A (p.Val849Glu)
c.-160A>T (n.-160A>T)
c.-428A>T (n.-428A>T)
c.-313A>T (n.-313A>T)
c.803T>A (p.Val268Glu)
2g.165130170C>ACA349042750SCN2A,SCN3Ac.2641G>T (p.Val881Leu)
c.2692G>T (p.Val898Leu)
c.*533G>T (n.*533G>T)
c.790G>T (p.Val264Leu)
c.2554G>T (p.Val852Leu)
c.2545G>T (p.Val849Leu)
c.-159C>A (n.-159C>A)
c.-427C>A (n.-427C>A)
c.-312C>A (n.-312C>A)
c.802G>T (p.Val268Leu)
2g.165130170C>GCA349042751SCN2A,SCN3Ac.2641G>C (p.Val881Leu)
c.2692G>C (p.Val898Leu)
c.*533G>C (n.*533G>C)
c.790G>C (p.Val264Leu)
c.2554G>C (p.Val852Leu)
c.2545G>C (p.Val849Leu)
c.-159C>G (n.-159C>G)
c.-427C>G (n.-427C>G)
c.-312C>G (n.-312C>G)
c.802G>C (p.Val268Leu)
2g.165130170C>TCA349042752SCN2A,SCN3Ac.2641G>A (p.Val881Met)
c.2692G>A (p.Val898Met)
c.*533G>A (n.*533G>A)
c.790G>A (p.Val264Met)
c.2554G>A (p.Val852Met)
c.2545G>A (p.Val849Met)
c.-159C>T (n.-159C>T)
c.-427C>T (n.-427C>T)
c.-312C>T (n.-312C>T)
c.802G>A (p.Val268Met)
2g.165130171A>CCA429884005SCN2A,SCN3Ac.2640T>G (p.Ala880=)
c.2691T>G (p.Ala897=)
c.*532T>G (n.*532T>G)
c.789T>G (p.Ala263=)
c.2553T>G (p.Ala851=)
c.2544T>G (p.Ala848=)
c.-158A>C (n.-158A>C)
c.-426A>C (n.-426A>C)
c.-311A>C (n.-311A>C)
c.801T>G (p.Ala267=)
2g.165130171A>GCA429884006SCN2A,SCN3Ac.2640T>C (p.Ala880=)
c.2691T>C (p.Ala897=)
c.*532T>C (n.*532T>C)
c.789T>C (p.Ala263=)
c.2553T>C (p.Ala851=)
c.2544T>C (p.Ala848=)
c.-158A>G (n.-158A>G)
c.-426A>G (n.-426A>G)
c.-311A>G (n.-311A>G)
c.801T>C (p.Ala267=)
2g.165130171A>TCA429884007SCN2A,SCN3Ac.2640T>A (p.Ala880=)
c.2691T>A (p.Ala897=)
c.*532T>A (n.*532T>A)
c.789T>A (p.Ala263=)
c.2553T>A (p.Ala851=)
c.2544T>A (p.Ala848=)
c.-158A>T (n.-158A>T)
c.-426A>T (n.-426A>T)
c.-311A>T (n.-311A>T)
c.801T>A (p.Ala267=)
2g.165130172G>ACA349042753SCN2A,SCN3Ac.2639C>T (p.Ala880Val)
c.2690C>T (p.Ala897Val)
c.*531C>T (n.*531C>T)
c.788C>T (p.Ala263Val)
c.2552C>T (p.Ala851Val)
c.2543C>T (p.Ala848Val)
c.-157G>A (n.-157G>A)
c.-425G>A (n.-425G>A)
c.-310G>A (n.-310G>A)
c.800C>T (p.Ala267Val)
2g.165130172G>CCA349042754SCN2A,SCN3Ac.2639C>G (p.Ala880Gly)
c.2690C>G (p.Ala897Gly)
c.*531C>G (n.*531C>G)
c.788C>G (p.Ala263Gly)
c.2552C>G (p.Ala851Gly)
c.2543C>G (p.Ala848Gly)
c.-157G>C (n.-157G>C)
c.-425G>C (n.-425G>C)
c.-310G>C (n.-310G>C)
c.800C>G (p.Ala267Gly)
2g.165130172G>TCA349042755SCN2A,SCN3Ac.2639C>A (p.Ala880Asp)
c.2690C>A (p.Ala897Asp)
c.*531C>A (n.*531C>A)
c.788C>A (p.Ala263Asp)
c.2552C>A (p.Ala851Asp)
c.2543C>A (p.Ala848Asp)
c.-157G>T (n.-157G>T)
c.-425G>T (n.-425G>T)
c.-310G>T (n.-310G>T)
c.800C>A (p.Ala267Asp)
2g.165130173C>ACA349042756SCN2A,SCN3Ac.2638G>T (p.Ala880Ser)
c.2689G>T (p.Ala897Ser)
c.*530G>T (n.*530G>T)
c.787G>T (p.Ala263Ser)
c.2551G>T (p.Ala851Ser)
c.2542G>T (p.Ala848Ser)
c.-156C>A (n.-156C>A)
c.-424C>A (n.-424C>A)
c.-309C>A (n.-309C>A)
c.799G>T (p.Ala267Ser)
2g.165130173C>GCA349042757SCN2A,SCN3Ac.2638G>C (p.Ala880Pro)
c.2689G>C (p.Ala897Pro)
c.*530G>C (n.*530G>C)
c.787G>C (p.Ala263Pro)
c.2551G>C (p.Ala851Pro)
c.2542G>C (p.Ala848Pro)
c.-156C>G (n.-156C>G)
c.-424C>G (n.-424C>G)
c.-309C>G (n.-309C>G)
c.799G>C (p.Ala267Pro)
2g.165130173C>TCA349042758SCN2A,SCN3Ac.2638G>A (p.Ala880Thr)
c.2689G>A (p.Ala897Thr)
c.*530G>A (n.*530G>A)
c.787G>A (p.Ala263Thr)
c.2551G>A (p.Ala851Thr)
c.2542G>A (p.Ala848Thr)
c.-156C>T (n.-156C>T)
c.-424C>T (n.-424C>T)
c.-309C>T (n.-309C>T)
c.799G>A (p.Ala267Thr)
2g.165130174A>CCA349042759SCN2A,SCN3Ac.2637T>G (p.Phe879Leu)
c.2688T>G (p.Phe896Leu)
c.*529T>G (n.*529T>G)
c.786T>G (p.Phe262Leu)
c.2550T>G (p.Phe850Leu)
c.2541T>G (p.Phe847Leu)
c.-155A>C (n.-155A>C)
c.-423A>C (n.-423A>C)
c.-308A>C (n.-308A>C)
c.798T>G (p.Phe266Leu)
2g.165130174A>GCA429884008SCN2A,SCN3Ac.2637T>C (p.Phe879=)
c.2688T>C (p.Phe896=)
c.*529T>C (n.*529T>C)
c.786T>C (p.Phe262=)
c.2550T>C (p.Phe850=)
c.2541T>C (p.Phe847=)
c.-155A>G (n.-155A>G)
c.-423A>G (n.-423A>G)
c.-308A>G (n.-308A>G)
c.798T>C (p.Phe266=)
2g.165130174A>TCA349042760SCN2A,SCN3Ac.2637T>A (p.Phe879Leu)
c.2688T>A (p.Phe896Leu)
c.*529T>A (n.*529T>A)
c.786T>A (p.Phe262Leu)
c.2550T>A (p.Phe850Leu)
c.2541T>A (p.Phe847Leu)
c.-155A>T (n.-155A>T)
c.-423A>T (n.-423A>T)
c.-308A>T (n.-308A>T)
c.798T>A (p.Phe266Leu)
2g.165130175A=CA1304452130SCN2A,SCN3Ac.2636T= (p.Phe879=)
c.2687T= (p.Phe896=)
c.*528T= (n.*528T=)
c.785T= (p.Phe262=)
c.2549T= (p.Phe850=)
c.2540T= (p.Phe847=)
c.-154A= (n.-154A=)
c.-422A= (n.-422A=)
c.-307A= (n.-307A=)
c.797T= (p.Phe266=)
2g.165130175A>CCA349042763SCN2A,SCN3Ac.2636T>G (p.Phe879Cys)
c.2687T>G (p.Phe896Cys)
c.*528T>G (n.*528T>G)
c.785T>G (p.Phe262Cys)
c.2549T>G (p.Phe850Cys)
c.2540T>G (p.Phe847Cys)
c.-154A>C (n.-154A>C)
c.-422A>C (n.-422A>C)
c.-307A>C (n.-307A>C)
c.797T>G (p.Phe266Cys)
2g.165130175A>GCA349042762SCN2A,SCN3Ac.2636T>C (p.Phe879Ser)
c.2687T>C (p.Phe896Ser)
c.*528T>C (n.*528T>C)
c.785T>C (p.Phe262Ser)
c.2549T>C (p.Phe850Ser)
c.2540T>C (p.Phe847Ser)
c.-154A>G (n.-154A>G)
c.-422A>G (n.-422A>G)
c.-307A>G (n.-307A>G)
c.797T>C (p.Phe266Ser)
2g.165130175A>TCA349042761SCN2A,SCN3Ac.2636T>A (p.Phe879Tyr)
c.2687T>A (p.Phe896Tyr)
c.*528T>A (n.*528T>A)
c.785T>A (p.Phe262Tyr)
c.2549T>A (p.Phe850Tyr)
c.2540T>A (p.Phe847Tyr)
c.-154A>T (n.-154A>T)
c.-422A>T (n.-422A>T)
c.-307A>T (n.-307A>T)
c.797T>A (p.Phe266Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.165130176A>CCA349042764SCN2A,SCN3Ac.2635T>G (p.Phe879Val)
c.2686T>G (p.Phe896Val)
c.*527T>G (n.*527T>G)
c.784T>G (p.Phe262Val)
c.2548T>G (p.Phe850Val)
c.2539T>G (p.Phe847Val)
c.-153A>C (n.-153A>C)
c.-421A>C (n.-421A>C)
c.-306A>C (n.-306A>C)
c.796T>G (p.Phe266Val)
2g.165130176A>GCA349042765SCN2A,SCN3Ac.2635T>C (p.Phe879Leu)
c.2686T>C (p.Phe896Leu)
c.*527T>C (n.*527T>C)
c.784T>C (p.Phe262Leu)
c.2548T>C (p.Phe850Leu)
c.2539T>C (p.Phe847Leu)
c.-153A>G (n.-153A>G)
c.-421A>G (n.-421A>G)
c.-306A>G (n.-306A>G)
c.796T>C (p.Phe266Leu)
2g.165130176A>TCA349042766SCN2A,SCN3Ac.2635T>A (p.Phe879Ile)
c.2686T>A (p.Phe896Ile)
c.*527T>A (n.*527T>A)
c.784T>A (p.Phe262Ile)
c.2548T>A (p.Phe850Ile)
c.2539T>A (p.Phe847Ile)
c.-153A>T (n.-153A>T)
c.-421A>T (n.-421A>T)
c.-306A>T (n.-306A>T)
c.796T>A (p.Phe266Ile)
2g.165130177A>CCA349042767SCN2A,SCN3Ac.2634T>G (p.Ile878Met)
c.2685T>G (p.Ile895Met)
c.*526T>G (n.*526T>G)
c.783T>G (p.Ile261Met)
c.2547T>G (p.Ile849Met)
c.2538T>G (p.Ile846Met)
c.-152A>C (n.-152A>C)
c.-420A>C (n.-420A>C)
c.-305A>C (n.-305A>C)
c.795T>G (p.Ile265Met)
2g.165130177A>GCA429884009SCN2A,SCN3Ac.2634T>C (p.Ile878=)
c.2685T>C (p.Ile895=)
c.*526T>C (n.*526T>C)
c.783T>C (p.Ile261=)
c.2547T>C (p.Ile849=)
c.2538T>C (p.Ile846=)
c.-152A>G (n.-152A>G)
c.-420A>G (n.-420A>G)
c.-305A>G (n.-305A>G)
c.795T>C (p.Ile265=)
2g.165130177A>TCA429884010SCN2A,SCN3Ac.2634T>A (p.Ile878=)
c.2685T>A (p.Ile895=)
c.*526T>A (n.*526T>A)
c.783T>A (p.Ile261=)
c.2547T>A (p.Ile849=)
c.2538T>A (p.Ile846=)
c.-152A>T (n.-152A>T)
c.-420A>T (n.-420A>T)
c.-305A>T (n.-305A>T)
c.795T>A (p.Ile265=)
2g.165130178A>CCA349042768SCN2A,SCN3Ac.2633T>G (p.Ile878Ser)
c.2684T>G (p.Ile895Ser)
c.*525T>G (n.*525T>G)
c.782T>G (p.Ile261Ser)
c.2546T>G (p.Ile849Ser)
c.2537T>G (p.Ile846Ser)
c.-151A>C (n.-151A>C)
c.-419A>C (n.-419A>C)
c.-304A>C (n.-304A>C)
c.794T>G (p.Ile265Ser)
2g.165130178A>GCA349042769SCN2A,SCN3Ac.2633T>C (p.Ile878Thr)
c.2684T>C (p.Ile895Thr)
c.*525T>C (n.*525T>C)
c.782T>C (p.Ile261Thr)
c.2546T>C (p.Ile849Thr)
c.2537T>C (p.Ile846Thr)
c.-151A>G (n.-151A>G)
c.-419A>G (n.-419A>G)
c.-304A>G (n.-304A>G)
c.794T>C (p.Ile265Thr)
2g.165130178A>TCA349042770SCN2A,SCN3Ac.2633T>A (p.Ile878Asn)
c.2684T>A (p.Ile895Asn)
c.*525T>A (n.*525T>A)
c.782T>A (p.Ile261Asn)
c.2546T>A (p.Ile849Asn)
c.2537T>A (p.Ile846Asn)
c.-151A>T (n.-151A>T)
c.-419A>T (n.-419A>T)
c.-304A>T (n.-304A>T)
c.794T>A (p.Ile265Asn)
2g.165130179T>ACA349042771SCN2A,SCN3Ac.2632A>T (p.Ile878Phe)
c.2683A>T (p.Ile895Phe)
c.*524A>T (n.*524A>T)
c.781A>T (p.Ile261Phe)
c.2545A>T (p.Ile849Phe)
c.2536A>T (p.Ile846Phe)
c.-150T>A (n.-150T>A)
c.-418T>A (n.-418T>A)
c.-303T>A (n.-303T>A)
c.793A>T (p.Ile265Phe)
2g.165130179T>CCA349042772SCN2A,SCN3Ac.2632A>G (p.Ile878Val)
c.2683A>G (p.Ile895Val)
c.*524A>G (n.*524A>G)
c.781A>G (p.Ile261Val)
c.2545A>G (p.Ile849Val)
c.2536A>G (p.Ile846Val)
c.-150T>C (n.-150T>C)
c.-418T>C (n.-418T>C)
c.-303T>C (n.-303T>C)
c.793A>G (p.Ile265Val)
2g.165130179T>GCA349042773SCN2A,SCN3Ac.2632A>C (p.Ile878Leu)
c.2683A>C (p.Ile895Leu)
c.*524A>C (n.*524A>C)
c.781A>C (p.Ile261Leu)
c.2545A>C (p.Ile849Leu)
c.2536A>C (p.Ile846Leu)
c.-150T>G (n.-150T>G)
c.-418T>G (n.-418T>G)
c.-303T>G (n.-303T>G)
c.793A>C (p.Ile265Leu)
2g.165130180G>ACA429884011SCN2A,SCN3Ac.2631C>T (p.Phe877=)
c.2682C>T (p.Phe894=)
c.*523C>T (n.*523C>T)
c.780C>T (p.Phe260=)
c.2544C>T (p.Phe848=)
c.2535C>T (p.Phe845=)
c.-149G>A (n.-149G>A)
c.-417G>A (n.-417G>A)
c.-302G>A (n.-302G>A)
c.792C>T (p.Phe264=)
2g.165130180G>CCA349042774SCN2A,SCN3Ac.2631C>G (p.Phe877Leu)
c.2682C>G (p.Phe894Leu)
c.*523C>G (n.*523C>G)
c.780C>G (p.Phe260Leu)
c.2544C>G (p.Phe848Leu)
c.2535C>G (p.Phe845Leu)
c.-149G>C (n.-149G>C)
c.-417G>C (n.-417G>C)
c.-302G>C (n.-302G>C)
c.792C>G (p.Phe264Leu)
2g.165130180G>TCA349042775SCN2A,SCN3Ac.2631C>A (p.Phe877Leu)
c.2682C>A (p.Phe894Leu)
c.*523C>A (n.*523C>A)
c.780C>A (p.Phe260Leu)
c.2544C>A (p.Phe848Leu)
c.2535C>A (p.Phe845Leu)
c.-149G>T (n.-149G>T)
c.-417G>T (n.-417G>T)
c.-302G>T (n.-302G>T)
c.792C>A (p.Phe264Leu)
2g.165130181A>CCA349042778SCN2A,SCN3Ac.2630T>G (p.Phe877Cys)
c.2681T>G (p.Phe894Cys)
c.*522T>G (n.*522T>G)
c.779T>G (p.Phe260Cys)
c.2543T>G (p.Phe848Cys)
c.2534T>G (p.Phe845Cys)
c.-148A>C (n.-148A>C)
c.-416A>C (n.-416A>C)
c.-301A>C (n.-301A>C)
c.791T>G (p.Phe264Cys)
2g.165130181A>GCA349042777SCN2A,SCN3Ac.2630T>C (p.Phe877Ser)
c.2681T>C (p.Phe894Ser)
c.*522T>C (n.*522T>C)
c.779T>C (p.Phe260Ser)
c.2543T>C (p.Phe848Ser)
c.2534T>C (p.Phe845Ser)
c.-148A>G (n.-148A>G)
c.-416A>G (n.-416A>G)
c.-301A>G (n.-301A>G)
c.791T>C (p.Phe264Ser)
 ClinVar dbSNP
2g.165130181A>TCA349042776SCN2A,SCN3Ac.2630T>A (p.Phe877Tyr)
c.2681T>A (p.Phe894Tyr)
c.*522T>A (n.*522T>A)
c.779T>A (p.Phe260Tyr)
c.2543T>A (p.Phe848Tyr)
c.2534T>A (p.Phe845Tyr)
c.-148A>T (n.-148A>T)
c.-416A>T (n.-416A>T)
c.-301A>T (n.-301A>T)
c.791T>A (p.Phe264Tyr)
2g.165130182A>CCA349042779SCN2A,SCN3Ac.2629T>G (p.Phe877Val)
c.2680T>G (p.Phe894Val)
c.*521T>G (n.*521T>G)
c.778T>G (p.Phe260Val)
c.2542T>G (p.Phe848Val)
c.2533T>G (p.Phe845Val)
c.-147A>C (n.-147A>C)
c.-415A>C (n.-415A>C)
c.-300A>C (n.-300A>C)
c.790T>G (p.Phe264Val)
2g.165130182A>GCA349042780SCN2A,SCN3Ac.2629T>C (p.Phe877Leu)
c.2680T>C (p.Phe894Leu)
c.*521T>C (n.*521T>C)
c.778T>C (p.Phe260Leu)
c.2542T>C (p.Phe848Leu)
c.2533T>C (p.Phe845Leu)
c.-147A>G (n.-147A>G)
c.-415A>G (n.-415A>G)
c.-300A>G (n.-300A>G)
c.790T>C (p.Phe264Leu)
2g.165130182A>TCA349042781SCN2A,SCN3Ac.2629T>A (p.Phe877Ile)
c.2680T>A (p.Phe894Ile)
c.*521T>A (n.*521T>A)
c.778T>A (p.Phe260Ile)
c.2542T>A (p.Phe848Ile)
c.2533T>A (p.Phe845Ile)
c.-147A>T (n.-147A>T)
c.-415A>T (n.-415A>T)
c.-300A>T (n.-300A>T)
c.790T>A (p.Phe264Ile)
2g.165130183G>ACA1938911SCN2A,SCN3Ac.2628C>T (p.Val876=)
c.2679C>T (p.Val893=)
c.*520C>T (n.*520C>T)
c.777C>T (p.Val259=)
c.2541C>T (p.Val847=)
c.2532C>T (p.Val844=)
c.-146G>A (n.-146G>A)
c.-414G>A (n.-414G>A)
c.-299G>A (n.-299G>A)
c.789C>T (p.Val263=)
 dbSNP ExAC
2g.165130183G>CCA429884013SCN2A,SCN3Ac.2628C>G (p.Val876=)
c.2679C>G (p.Val893=)
c.*520C>G (n.*520C>G)
c.777C>G (p.Val259=)
c.2541C>G (p.Val847=)
c.2532C>G (p.Val844=)
c.-146G>C (n.-146G>C)
c.-414G>C (n.-414G>C)
c.-299G>C (n.-299G>C)
c.789C>G (p.Val263=)
2g.165130183G=CA1304452131SCN2A,SCN3Ac.2628C= (p.Val876=)
c.2679C= (p.Val893=)
c.*520C= (n.*520C=)
c.777C= (p.Val259=)
c.2541C= (p.Val847=)
c.2532C= (p.Val844=)
c.-146G= (n.-146G=)
c.-414G= (n.-414G=)
c.-299G= (n.-299G=)
c.789C= (p.Val263=)
2g.165130183G>TCA429884012SCN2A,SCN3Ac.2628C>A (p.Val876=)
c.2679C>A (p.Val893=)
c.*520C>A (n.*520C>A)
c.777C>A (p.Val259=)
c.2541C>A (p.Val847=)
c.2532C>A (p.Val844=)
c.-146G>T (n.-146G>T)
c.-414G>T (n.-414G>T)
c.-299G>T (n.-299G>T)
c.789C>A (p.Val263=)
 gnomAD v4
2g.165130184A=CA1304452132SCN2A,SCN3Ac.2627T= (p.Val876=)
c.2678T= (p.Val893=)
c.*519T= (n.*519T=)
c.776T= (p.Val259=)
c.2540T= (p.Val847=)
c.2531T= (p.Val844=)
c.-145A= (n.-145A=)
c.-413A= (n.-413A=)
c.-298A= (n.-298A=)
c.788T= (p.Val263=)
2g.165130184A>CCA349042782SCN2A,SCN3Ac.2627T>G (p.Val876Gly)
c.2678T>G (p.Val893Gly)
c.*519T>G (n.*519T>G)
c.776T>G (p.Val259Gly)
c.2540T>G (p.Val847Gly)
c.2531T>G (p.Val844Gly)
c.-145A>C (n.-145A>C)
c.-413A>C (n.-413A>C)
c.-298A>C (n.-298A>C)
c.788T>G (p.Val263Gly)
2g.165130184A>GCA349042783SCN2A,SCN3Ac.2627T>C (p.Val876Ala)
c.2678T>C (p.Val893Ala)
c.*519T>C (n.*519T>C)
c.776T>C (p.Val259Ala)
c.2540T>C (p.Val847Ala)
c.2531T>C (p.Val844Ala)
c.-145A>G (n.-145A>G)
c.-413A>G (n.-413A>G)
c.-298A>G (n.-298A>G)
c.788T>C (p.Val263Ala)
 ClinVar dbSNP
2g.165130184A>TCA349042784SCN2A,SCN3Ac.2627T>A (p.Val876Asp)
c.2678T>A (p.Val893Asp)
c.*519T>A (n.*519T>A)
c.776T>A (p.Val259Asp)
c.2540T>A (p.Val847Asp)
c.2531T>A (p.Val844Asp)
c.-145A>T (n.-145A>T)
c.-413A>T (n.-413A>T)
c.-298A>T (n.-298A>T)
c.788T>A (p.Val263Asp)
2g.165130185C>ACA349042785SCN2A,SCN3Ac.2626G>T (p.Val876Phe)
c.2677G>T (p.Val893Phe)
c.*518G>T (n.*518G>T)
c.775G>T (p.Val259Phe)
c.2539G>T (p.Val847Phe)
c.2530G>T (p.Val844Phe)
c.-144C>A (n.-144C>A)
c.-412C>A (n.-412C>A)
c.-297C>A (n.-297C>A)
c.787G>T (p.Val263Phe)
2g.165130185C=CA1304452133SCN2A,SCN3Ac.2626G= (p.Val876=)
c.2677G= (p.Val893=)
c.*518G= (n.*518G=)
c.775G= (p.Val259=)
c.2539G= (p.Val847=)
c.2530G= (p.Val844=)
c.-144C= (n.-144C=)
c.-412C= (n.-412C=)
c.-297C= (n.-297C=)
c.787G= (p.Val263=)
2g.165130185C>GCA349042786SCN2A,SCN3Ac.2626G>C (p.Val876Leu)
c.2677G>C (p.Val893Leu)
c.*518G>C (n.*518G>C)
c.775G>C (p.Val259Leu)
c.2539G>C (p.Val847Leu)
c.2530G>C (p.Val844Leu)
c.-144C>G (n.-144C>G)
c.-412C>G (n.-412C>G)
c.-297C>G (n.-297C>G)
c.787G>C (p.Val263Leu)
 gnomAD v4
2g.165130185C>TCA1938912SCN2A,SCN3Ac.2626G>A (p.Val876Ile)
c.2677G>A (p.Val893Ile)
c.*518G>A (n.*518G>A)
c.775G>A (p.Val259Ile)
c.2539G>A (p.Val847Ile)
c.2530G>A (p.Val844Ile)
c.-144C>T (n.-144C>T)
c.-412C>T (n.-412C>T)
c.-297C>T (n.-297C>T)
c.787G>A (p.Val263Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.165130186G>ACA1938913SCN2A,SCN3Ac.2625C>T (p.Ile875=)
c.2676C>T (p.Ile892=)
c.*517C>T (n.*517C>T)
c.774C>T (p.Ile258=)
c.2538C>T (p.Ile846=)
c.2529C>T (p.Ile843=)
c.-143G>A (n.-143G>A)
c.-411G>A (n.-411G>A)
c.-296G>A (n.-296G>A)
c.786C>T (p.Ile262=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.165130186G>CCA349042787SCN2A,SCN3Ac.2625C>G (p.Ile875Met)
c.2676C>G (p.Ile892Met)
c.*517C>G (n.*517C>G)
c.774C>G (p.Ile258Met)
c.2538C>G (p.Ile846Met)
c.2529C>G (p.Ile843Met)
c.-143G>C (n.-143G>C)
c.-411G>C (n.-411G>C)
c.-296G>C (n.-296G>C)
c.786C>G (p.Ile262Met)
2g.165130186G=CA1304452134SCN2A,SCN3Ac.2625C= (p.Ile875=)
c.2676C= (p.Ile892=)
c.*517C= (n.*517C=)
c.774C= (p.Ile258=)
c.2538C= (p.Ile846=)
c.2529C= (p.Ile843=)
c.-143G= (n.-143G=)
c.-411G= (n.-411G=)
c.-296G= (n.-296G=)
c.786C= (p.Ile262=)
2g.165130186G>TCA429884014SCN2A,SCN3Ac.2625C>A (p.Ile875=)
c.2676C>A (p.Ile892=)
c.*517C>A (n.*517C>A)
c.774C>A (p.Ile258=)
c.2538C>A (p.Ile846=)
c.2529C>A (p.Ile843=)
c.-143G>T (n.-143G>T)
c.-411G>T (n.-411G>T)
c.-296G>T (n.-296G>T)
c.786C>A (p.Ile262=)
2g.165130187A=CA1304452135SCN2A,SCN3Ac.2624T= (p.Ile875=)
c.2675T= (p.Ile892=)
c.*516T= (n.*516T=)
c.773T= (p.Ile258=)
c.2537T= (p.Ile846=)
c.2528T= (p.Ile843=)
c.-142A= (n.-142A=)
c.-410A= (n.-410A=)
c.-295A= (n.-295A=)
c.785T= (p.Ile262=)
2g.165130187A>CCA349042790SCN2A,SCN3Ac.2624T>G (p.Ile875Ser)
c.2675T>G (p.Ile892Ser)
c.*516T>G (n.*516T>G)
c.773T>G (p.Ile258Ser)
c.2537T>G (p.Ile846Ser)
c.2528T>G (p.Ile843Ser)
c.-142A>C (n.-142A>C)
c.-410A>C (n.-410A>C)
c.-295A>C (n.-295A>C)
c.785T>G (p.Ile262Ser)
2g.165130187A>GCA349042789SCN2A,SCN3Ac.2624T>C (p.Ile875Thr)
c.2675T>C (p.Ile892Thr)
c.*516T>C (n.*516T>C)
c.773T>C (p.Ile258Thr)
c.2537T>C (p.Ile846Thr)
c.2528T>C (p.Ile843Thr)
c.-142A>G (n.-142A>G)
c.-410A>G (n.-410A>G)
c.-295A>G (n.-295A>G)
c.785T>C (p.Ile262Thr)
 dbSNP
2g.165130187A>TCA349042788SCN2A,SCN3Ac.2624T>A (p.Ile875Asn)
c.2675T>A (p.Ile892Asn)
c.*516T>A (n.*516T>A)
c.773T>A (p.Ile258Asn)
c.2537T>A (p.Ile846Asn)
c.2528T>A (p.Ile843Asn)
c.-142A>T (n.-142A>T)
c.-410A>T (n.-410A>T)
c.-295A>T (n.-295A>T)
c.785T>A (p.Ile262Asn)
2g.165130188T>ACA349042791SCN2A,SCN3Ac.2623A>T (p.Ile875Phe)
c.2674A>T (p.Ile892Phe)
c.*515A>T (n.*515A>T)
c.772A>T (p.Ile258Phe)
c.2536A>T (p.Ile846Phe)
c.2527A>T (p.Ile843Phe)
c.-141T>A (n.-141T>A)
c.-409T>A (n.-409T>A)
c.-294T>A (n.-294T>A)
c.784A>T (p.Ile262Phe)
2g.165130188T>CCA349042793SCN2A,SCN3Ac.2623A>G (p.Ile875Val)
c.2674A>G (p.Ile892Val)
c.*515A>G (n.*515A>G)
c.772A>G (p.Ile258Val)
c.2536A>G (p.Ile846Val)
c.2527A>G (p.Ile843Val)
c.-141T>C (n.-141T>C)
c.-409T>C (n.-409T>C)
c.-294T>C (n.-294T>C)
c.784A>G (p.Ile262Val)
 gnomAD v4
2g.165130188T>GCA349042792SCN2A,SCN3Ac.2623A>C (p.Ile875Leu)
c.2674A>C (p.Ile892Leu)
c.*515A>C (n.*515A>C)
c.772A>C (p.Ile258Leu)
c.2536A>C (p.Ile846Leu)
c.2527A>C (p.Ile843Leu)
c.-141T>G (n.-141T>G)
c.-409T>G (n.-409T>G)
c.-294T>G (n.-294T>G)
c.784A>C (p.Ile262Leu)
2g.165130189G>ACA429884015SCN2A,SCN3Ac.2622C>T (p.Ile874=)
c.2673C>T (p.Ile891=)
c.*514C>T (n.*514C>T)
c.771C>T (p.Ile257=)
c.2535C>T (p.Ile845=)
c.2526C>T (p.Ile842=)
c.-140G>A (n.-140G>A)
c.-408G>A (n.-408G>A)
c.-293G>A (n.-293G>A)
c.783C>T (p.Ile261=)
2g.165130189G>CCA349042794SCN2A,SCN3Ac.2622C>G (p.Ile874Met)
c.2673C>G (p.Ile891Met)
c.*514C>G (n.*514C>G)
c.771C>G (p.Ile257Met)
c.2535C>G (p.Ile845Met)
c.2526C>G (p.Ile842Met)
c.-140G>C (n.-140G>C)
c.-408G>C (n.-408G>C)
c.-293G>C (n.-293G>C)
c.783C>G (p.Ile261Met)
2g.165130189G>TCA429884016SCN2A,SCN3Ac.2622C>A (p.Ile874=)
c.2673C>A (p.Ile891=)
c.*514C>A (n.*514C>A)
c.771C>A (p.Ile257=)
c.2535C>A (p.Ile845=)
c.2526C>A (p.Ile842=)
c.-140G>T (n.-140G>T)
c.-408G>T (n.-408G>T)
c.-293G>T (n.-293G>T)
c.783C>A (p.Ile261=)
2g.165130190A>CCA349042795SCN2A,SCN3Ac.2621T>G (p.Ile874Ser)
c.2672T>G (p.Ile891Ser)
c.*513T>G (n.*513T>G)
c.770T>G (p.Ile257Ser)
c.2534T>G (p.Ile845Ser)
c.2525T>G (p.Ile842Ser)
c.-139A>C (n.-139A>C)
c.-407A>C (n.-407A>C)
c.-292A>C (n.-292A>C)
c.782T>G (p.Ile261Ser)
2g.165130190A>GCA349042796SCN2A,SCN3Ac.2621T>C (p.Ile874Thr)
c.2672T>C (p.Ile891Thr)
c.*513T>C (n.*513T>C)
c.770T>C (p.Ile257Thr)
c.2534T>C (p.Ile845Thr)
c.2525T>C (p.Ile842Thr)
c.-139A>G (n.-139A>G)
c.-407A>G (n.-407A>G)
c.-292A>G (n.-292A>G)
c.782T>C (p.Ile261Thr)
2g.165130190A>TCA349042797SCN2A,SCN3Ac.2621T>A (p.Ile874Asn)
c.2672T>A (p.Ile891Asn)
c.*513T>A (n.*513T>A)
c.770T>A (p.Ile257Asn)
c.2534T>A (p.Ile845Asn)
c.2525T>A (p.Ile842Asn)
c.-139A>T (n.-139A>T)
c.-407A>T (n.-407A>T)
c.-292A>T (n.-292A>T)
c.782T>A (p.Ile261Asn)
2g.165130191T>ACA349042798SCN2A,SCN3Ac.2620A>T (p.Ile874Phe)
c.2671A>T (p.Ile891Phe)
c.*512A>T (n.*512A>T)
c.769A>T (p.Ile257Phe)
c.2533A>T (p.Ile845Phe)
c.2524A>T (p.Ile842Phe)
c.-138T>A (n.-138T>A)
c.-406T>A (n.-406T>A)
c.-291T>A (n.-291T>A)
c.781A>T (p.Ile261Phe)
2g.165130191T>CCA349042799SCN2A,SCN3Ac.2620A>G (p.Ile874Val)
c.2671A>G (p.Ile891Val)
c.*512A>G (n.*512A>G)
c.769A>G (p.Ile257Val)
c.2533A>G (p.Ile845Val)
c.2524A>G (p.Ile842Val)
c.-138T>C (n.-138T>C)
c.-406T>C (n.-406T>C)
c.-291T>C (n.-291T>C)
c.781A>G (p.Ile261Val)
2g.165130191T>GCA349042800SCN2A,SCN3Ac.2620A>C (p.Ile874Leu)
c.2671A>C (p.Ile891Leu)
c.*512A>C (n.*512A>C)
c.769A>C (p.Ile257Leu)
c.2533A>C (p.Ile845Leu)
c.2524A>C (p.Ile842Leu)
c.-138T>G (n.-138T>G)
c.-406T>G (n.-406T>G)
c.-291T>G (n.-291T>G)
c.781A>C (p.Ile261Leu)
2g.165130192G>ACA429884017SCN2A,SCN3Ac.2619C>T (p.Ala873=)
c.2670C>T (p.Ala890=)
c.*511C>T (n.*511C>T)
c.768C>T (p.Ala256=)
c.2532C>T (p.Ala844=)
c.2523C>T (p.Ala841=)
c.-137G>A (n.-137G>A)
c.-405G>A (n.-405G>A)
c.-290G>A (n.-290G>A)
c.780C>T (p.Ala260=)
2g.165130192G>CCA429884018SCN2A,SCN3Ac.2619C>G (p.Ala873=)
c.2670C>G (p.Ala890=)
c.*511C>G (n.*511C>G)
c.768C>G (p.Ala256=)
c.2532C>G (p.Ala844=)
c.2523C>G (p.Ala841=)
c.-137G>C (n.-137G>C)
c.-405G>C (n.-405G>C)
c.-290G>C (n.-290G>C)
c.780C>G (p.Ala260=)
2g.165130192G>TCA429884019SCN2A,SCN3Ac.2619C>A (p.Ala873=)
c.2670C>A (p.Ala890=)
c.*511C>A (n.*511C>A)
c.768C>A (p.Ala256=)
c.2532C>A (p.Ala844=)
c.2523C>A (p.Ala841=)
c.-137G>T (n.-137G>T)
c.-405G>T (n.-405G>T)
c.-290G>T (n.-290G>T)
c.780C>A (p.Ala260=)
2g.165130193G>ACA349042801SCN2A,SCN3Ac.2618C>T (p.Ala873Val)
c.2669C>T (p.Ala890Val)
c.*510C>T (n.*510C>T)
c.767C>T (p.Ala256Val)
c.2531C>T (p.Ala844Val)
c.2522C>T (p.Ala841Val)
c.-136G>A (n.-136G>A)
c.-404G>A (n.-404G>A)
c.-289G>A (n.-289G>A)
c.779C>T (p.Ala260Val)
2g.165130193G>CCA349042802SCN2A,SCN3Ac.2618C>G (p.Ala873Gly)
c.2669C>G (p.Ala890Gly)
c.*510C>G (n.*510C>G)
c.767C>G (p.Ala256Gly)
c.2531C>G (p.Ala844Gly)
c.2522C>G (p.Ala841Gly)
c.-136G>C (n.-136G>C)
c.-404G>C (n.-404G>C)
c.-289G>C (n.-289G>C)
c.779C>G (p.Ala260Gly)
2g.165130193G>TCA349042803SCN2A,SCN3Ac.2618C>A (p.Ala873Asp)
c.2669C>A (p.Ala890Asp)
c.*510C>A (n.*510C>A)
c.767C>A (p.Ala256Asp)
c.2531C>A (p.Ala844Asp)
c.2522C>A (p.Ala841Asp)
c.-136G>T (n.-136G>T)
c.-404G>T (n.-404G>T)
c.-289G>T (n.-289G>T)
c.779C>A (p.Ala260Asp)
2g.165130194C>ACA349042804SCN2A,SCN3Ac.2617G>T (p.Ala873Ser)
c.2668G>T (p.Ala890Ser)
c.*509G>T (n.*509G>T)
c.766G>T (p.Ala256Ser)
c.2530G>T (p.Ala844Ser)
c.2521G>T (p.Ala841Ser)
c.-135C>A (n.-135C>A)
c.-403C>A (n.-403C>A)
c.-288C>A (n.-288C>A)
c.778G>T (p.Ala260Ser)
2g.165130194C>GCA349042805SCN2A,SCN3Ac.2617G>C (p.Ala873Pro)
c.2668G>C (p.Ala890Pro)
c.*509G>C (n.*509G>C)
c.766G>C (p.Ala256Pro)
c.2530G>C (p.Ala844Pro)
c.2521G>C (p.Ala841Pro)
c.-135C>G (n.-135C>G)
c.-403C>G (n.-403C>G)
c.-288C>G (n.-288C>G)
c.778G>C (p.Ala260Pro)
2g.165130194C>TCA349042806SCN2A,SCN3Ac.2617G>A (p.Ala873Thr)
c.2668G>A (p.Ala890Thr)
c.*509G>A (n.*509G>A)
c.766G>A (p.Ala256Thr)
c.2530G>A (p.Ala844Thr)
c.2521G>A (p.Ala841Thr)
c.-135C>T (n.-135C>T)
c.-403C>T (n.-403C>T)
c.-288C>T (n.-288C>T)
c.778G>A (p.Ala260Thr)
2g.165130195C>ACA349042807SCN2A,SCN3Ac.2616G>T (p.Leu872Phe)
c.2667G>T (p.Leu889Phe)
c.*508G>T (n.*508G>T)
c.765G>T (p.Leu255Phe)
c.2529G>T (p.Leu843Phe)
c.2520G>T (p.Leu840Phe)
c.-134C>A (n.-134C>A)
c.-402C>A (n.-402C>A)
c.-287C>A (n.-287C>A)
c.777G>T (p.Leu259Phe)
2g.165130195C=CA1304452136SCN2A,SCN3Ac.2616G= (p.Leu872=)
c.2667G= (p.Leu889=)
c.*508G= (n.*508G=)
c.765G= (p.Leu255=)
c.2529G= (p.Leu843=)
c.2520G= (p.Leu840=)
c.-134C= (n.-134C=)
c.-402C= (n.-402C=)
c.-287C= (n.-287C=)
c.777G= (p.Leu259=)
2g.165130195C>GCA349042808SCN2A,SCN3Ac.2616G>C (p.Leu872Phe)
c.2667G>C (p.Leu889Phe)
c.*508G>C (n.*508G>C)
c.765G>C (p.Leu255Phe)
c.2529G>C (p.Leu843Phe)
c.2520G>C (p.Leu840Phe)
c.-134C>G (n.-134C>G)
c.-402C>G (n.-402C>G)
c.-287C>G (n.-287C>G)
c.777G>C (p.Leu259Phe)
2g.165130195C>TCA429884020SCN2A,SCN3Ac.2616G>A (p.Leu872=)
c.2667G>A (p.Leu889=)
c.*508G>A (n.*508G>A)
c.765G>A (p.Leu255=)
c.2529G>A (p.Leu843=)
c.2520G>A (p.Leu840=)
c.-134C>T (n.-134C>T)
c.-402C>T (n.-402C>T)
c.-287C>T (n.-287C>T)
c.777G>A (p.Leu259=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.165130196A>CCA349042809SCN2A,SCN3Ac.2615T>G (p.Leu872Trp)
c.2666T>G (p.Leu889Trp)
c.*507T>G (n.*507T>G)
c.764T>G (p.Leu255Trp)
c.2528T>G (p.Leu843Trp)
c.2519T>G (p.Leu840Trp)
c.-133A>C (n.-133A>C)
c.-401A>C (n.-401A>C)
c.-286A>C (n.-286A>C)
c.776T>G (p.Leu259Trp)
2g.165130196A>GCA349042810SCN2A,SCN3Ac.2615T>C (p.Leu872Ser)
c.2666T>C (p.Leu889Ser)
c.*507T>C (n.*507T>C)
c.764T>C (p.Leu255Ser)
c.2528T>C (p.Leu843Ser)
c.2519T>C (p.Leu840Ser)
c.-133A>G (n.-133A>G)
c.-401A>G (n.-401A>G)
c.-286A>G (n.-286A>G)
c.776T>C (p.Leu259Ser)
2g.165130196A>TCA349042811SCN2A,SCN3Ac.2615T>A (p.Leu872Ter)
c.2666T>A (p.Leu889Ter)
c.*507T>A (n.*507T>A)
c.764T>A (p.Leu255Ter)
c.2528T>A (p.Leu843Ter)
c.2519T>A (p.Leu840Ter)
c.-133A>T (n.-133A>T)
c.-401A>T (n.-401A>T)
c.-286A>T (n.-286A>T)
c.776T>A (p.Leu259Ter)
2g.165130197A>CCA349042812SCN2A,SCN3Ac.2614T>G (p.Leu872Val)
c.2665T>G (p.Leu889Val)
c.*506T>G (n.*506T>G)
c.763T>G (p.Leu255Val)
c.2527T>G (p.Leu843Val)
c.2518T>G (p.Leu840Val)
c.-132A>C (n.-132A>C)
c.-400A>C (n.-400A>C)
c.-285A>C (n.-285A>C)
c.775T>G (p.Leu259Val)
2g.165130197A>GCA429884021SCN2A,SCN3Ac.2614T>C (p.Leu872=)
c.2665T>C (p.Leu889=)
c.*506T>C (n.*506T>C)
c.763T>C (p.Leu255=)
c.2527T>C (p.Leu843=)
c.2518T>C (p.Leu840=)
c.-132A>G (n.-132A>G)
c.-400A>G (n.-400A>G)
c.-285A>G (n.-285A>G)
c.775T>C (p.Leu259=)
2g.165130197A>TCA349042813SCN2A,SCN3Ac.2614T>A (p.Leu872Met)
c.2665T>A (p.Leu889Met)
c.*506T>A (n.*506T>A)
c.763T>A (p.Leu255Met)
c.2527T>A (p.Leu843Met)
c.2518T>A (p.Leu840Met)
c.-132A>T (n.-132A>T)
c.-400A>T (n.-400A>T)
c.-285A>T (n.-285A>T)
c.775T>A (p.Leu259Met)
2g.165130198C>ACA429884022SCN2A,SCN3Ac.2613G>T (p.Val871=)
c.2664G>T (p.Val888=)
c.*505G>T (n.*505G>T)
c.762G>T (p.Val254=)
c.2526G>T (p.Val842=)
c.2517G>T (p.Val839=)
c.-131C>A (n.-131C>A)
c.-399C>A (n.-399C>A)
c.-284C>A (n.-284C>A)
c.774G>T (p.Val258=)
2g.165130198C>GCA429884023SCN2A,SCN3Ac.2613G>C (p.Val871=)
c.2664G>C (p.Val888=)
c.*505G>C (n.*505G>C)
c.762G>C (p.Val254=)
c.2526G>C (p.Val842=)
c.2517G>C (p.Val839=)
c.-131C>G (n.-131C>G)
c.-399C>G (n.-399C>G)
c.-284C>G (n.-284C>G)
c.774G>C (p.Val258=)
2g.165130198C>TCA429884024SCN2A,SCN3Ac.2613G>A (p.Val871=)
c.2664G>A (p.Val888=)
c.*505G>A (n.*505G>A)
c.762G>A (p.Val254=)
c.2526G>A (p.Val842=)
c.2517G>A (p.Val839=)
c.-131C>T (n.-131C>T)
c.-399C>T (n.-399C>T)
c.-284C>T (n.-284C>T)
c.774G>A (p.Val258=)
 COSMIC COSMIC
2g.165130199A>CCA349042814SCN2A,SCN3Ac.2612T>G (p.Val871Gly)
c.2663T>G (p.Val888Gly)
c.*504T>G (n.*504T>G)
c.761T>G (p.Val254Gly)
c.2525T>G (p.Val842Gly)
c.2516T>G (p.Val839Gly)
c.-130A>C (n.-130A>C)
c.-398A>C (n.-398A>C)
c.-283A>C (n.-283A>C)
c.773T>G (p.Val258Gly)
2g.165130199A>GCA349042815SCN2A,SCN3Ac.2612T>C (p.Val871Ala)
c.2663T>C (p.Val888Ala)
c.*504T>C (n.*504T>C)
c.761T>C (p.Val254Ala)
c.2525T>C (p.Val842Ala)
c.2516T>C (p.Val839Ala)
c.-130A>G (n.-130A>G)
c.-398A>G (n.-398A>G)
c.-283A>G (n.-283A>G)
c.773T>C (p.Val258Ala)
2g.165130199A>TCA349042816SCN2A,SCN3Ac.2612T>A (p.Val871Glu)
c.2663T>A (p.Val888Glu)
c.*504T>A (n.*504T>A)
c.761T>A (p.Val254Glu)
c.2525T>A (p.Val842Glu)
c.2516T>A (p.Val839Glu)
c.-130A>T (n.-130A>T)
c.-398A>T (n.-398A>T)
c.-283A>T (n.-283A>T)
c.773T>A (p.Val258Glu)
2g.165130200C>ACA349042817SCN2A,SCN3Ac.2611G>T (p.Val871Leu)
c.2662G>T (p.Val888Leu)
c.*503G>T (n.*503G>T)
c.760G>T (p.Val254Leu)
c.2524G>T (p.Val842Leu)
c.2515G>T (p.Val839Leu)
c.-129C>A (n.-129C>A)
c.-397C>A (n.-397C>A)
c.-282C>A (n.-282C>A)
c.772G>T (p.Val258Leu)
2g.165130200C>GCA349042818SCN2A,SCN3Ac.2611G>C (p.Val871Leu)
c.2662G>C (p.Val888Leu)
c.*503G>C (n.*503G>C)
c.760G>C (p.Val254Leu)
c.2524G>C (p.Val842Leu)
c.2515G>C (p.Val839Leu)
c.-129C>G (n.-129C>G)
c.-397C>G (n.-397C>G)
c.-282C>G (n.-282C>G)
c.772G>C (p.Val258Leu)
2g.165130200C>TCA349042819SCN2A,SCN3Ac.2611G>A (p.Val871Met)
c.2662G>A (p.Val888Met)
c.*503G>A (n.*503G>A)
c.760G>A (p.Val254Met)
c.2524G>A (p.Val842Met)
c.2515G>A (p.Val839Met)
c.-129C>T (n.-129C>T)
c.-397C>T (n.-397C>T)
c.-282C>T (n.-282C>T)
c.772G>A (p.Val258Met)
2g.165130201C>ACA349042821SCN2A,SCN3Ac.2610G>T (p.Leu870Phe)
c.2661G>T (p.Leu887Phe)
c.*502G>T (n.*502G>T)
c.759G>T (p.Leu253Phe)
c.2523G>T (p.Leu841Phe)
c.2514G>T (p.Leu838Phe)
c.-128C>A (n.-128C>A)
c.-396C>A (n.-396C>A)
c.-281C>A (n.-281C>A)
c.771G>T (p.Leu257Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.165130201C=CA1304452137SCN2A,SCN3Ac.2610G= (p.Leu870=)
c.2661G= (p.Leu887=)
c.*502G= (n.*502G=)
c.759G= (p.Leu253=)
c.2523G= (p.Leu841=)
c.2514G= (p.Leu838=)
c.-128C= (n.-128C=)
c.-396C= (n.-396C=)
c.-281C= (n.-281C=)
c.771G= (p.Leu257=)
2g.165130201C>GCA349042820SCN2A,SCN3Ac.2610G>C (p.Leu870Phe)
c.2661G>C (p.Leu887Phe)
c.*502G>C (n.*502G>C)
c.759G>C (p.Leu253Phe)
c.2523G>C (p.Leu841Phe)
c.2514G>C (p.Leu838Phe)
c.-128C>G (n.-128C>G)
c.-396C>G (n.-396C>G)
c.-281C>G (n.-281C>G)
c.771G>C (p.Leu257Phe)
 ClinVar gnomAD v4
2g.165130201C>TCA429884025SCN2A,SCN3Ac.2610G>A (p.Leu870=)
c.2661G>A (p.Leu887=)
c.*502G>A (n.*502G>A)
c.759G>A (p.Leu253=)
c.2523G>A (p.Leu841=)
c.2514G>A (p.Leu838=)
c.-128C>T (n.-128C>T)
c.-396C>T (n.-396C>T)
c.-281C>T (n.-281C>T)
c.771G>A (p.Leu257=)
 dbSNP
2g.165130202A>CCA349042822SCN2A,SCN3Ac.2609T>G (p.Leu870Trp)
c.2660T>G (p.Leu887Trp)
c.*501T>G (n.*501T>G)
c.758T>G (p.Leu253Trp)
c.2522T>G (p.Leu841Trp)
c.2513T>G (p.Leu838Trp)
c.-127A>C (n.-127A>C)
c.-395A>C (n.-395A>C)
c.-280A>C (n.-280A>C)
c.770T>G (p.Leu257Trp)
2g.165130202A>GCA349042824SCN2A,SCN3Ac.2609T>C (p.Leu870Ser)
c.2660T>C (p.Leu887Ser)
c.*501T>C (n.*501T>C)
c.758T>C (p.Leu253Ser)
c.2522T>C (p.Leu841Ser)
c.2513T>C (p.Leu838Ser)
c.-127A>G (n.-127A>G)
c.-395A>G (n.-395A>G)
c.-280A>G (n.-280A>G)
c.770T>C (p.Leu257Ser)
2g.165130202A>TCA349042823SCN2A,SCN3Ac.2609T>A (p.Leu870Ter)
c.2660T>A (p.Leu887Ter)
c.*501T>A (n.*501T>A)
c.758T>A (p.Leu253Ter)
c.2522T>A (p.Leu841Ter)
c.2513T>A (p.Leu838Ter)
c.-127A>T (n.-127A>T)
c.-395A>T (n.-395A>T)
c.-280A>T (n.-280A>T)
c.770T>A (p.Leu257Ter)
2g.165130203A>CCA349042825SCN2A,SCN3Ac.2608T>G (p.Leu870Val)
c.2659T>G (p.Leu887Val)
c.*500T>G (n.*500T>G)
c.757T>G (p.Leu253Val)
c.2521T>G (p.Leu841Val)
c.2512T>G (p.Leu838Val)
c.-126A>C (n.-126A>C)
c.-394A>C (n.-394A>C)
c.-279A>C (n.-279A>C)
c.769T>G (p.Leu257Val)
2g.165130203A>GCA429884026SCN2A,SCN3Ac.2608T>C (p.Leu870=)
c.2659T>C (p.Leu887=)
c.*500T>C (n.*500T>C)
c.757T>C (p.Leu253=)
c.2521T>C (p.Leu841=)
c.2512T>C (p.Leu838=)
c.-126A>G (n.-126A>G)
c.-394A>G (n.-394A>G)
c.-279A>G (n.-279A>G)
c.769T>C (p.Leu257=)
2g.165130203A>TCA349042826SCN2A,SCN3Ac.2608T>A (p.Leu870Met)
c.2659T>A (p.Leu887Met)
c.*500T>A (n.*500T>A)
c.757T>A (p.Leu253Met)
c.2521T>A (p.Leu841Met)
c.2512T>A (p.Leu838Met)
c.-126A>T (n.-126A>T)
c.-394A>T (n.-394A>T)
c.-279A>T (n.-279A>T)
c.769T>A (p.Leu257Met)
2g.165130204G>ACA429884028SCN2A,SCN3Ac.2607C>T (p.Thr869=)
c.2658C>T (p.Thr886=)
c.*499C>T (n.*499C>T)
c.756C>T (p.Thr252=)
c.2520C>T (p.Thr840=)
c.2511C>T (p.Thr837=)
c.-125G>A (n.-125G>A)
c.-393G>A (n.-393G>A)
c.-278G>A (n.-278G>A)
c.768C>T (p.Thr256=)
2g.165130204G>CCA429884027SCN2A,SCN3Ac.2607C>G (p.Thr869=)
c.2658C>G (p.Thr886=)
c.*499C>G (n.*499C>G)
c.756C>G (p.Thr252=)
c.2520C>G (p.Thr840=)
c.2511C>G (p.Thr837=)
c.-125G>C (n.-125G>C)
c.-393G>C (n.-393G>C)
c.-278G>C (n.-278G>C)
c.768C>G (p.Thr256=)
 gnomAD v4
2g.165130204G=CA1304452138SCN2A,SCN3Ac.2607C= (p.Thr869=)
c.2658C= (p.Thr886=)
c.*499C= (n.*499C=)
c.756C= (p.Thr252=)
c.2520C= (p.Thr840=)
c.2511C= (p.Thr837=)
c.-125G= (n.-125G=)
c.-393G= (n.-393G=)
c.-278G= (n.-278G=)
c.768C= (p.Thr256=)
2g.165130204G>TCA59734330SCN2A,SCN3Ac.2607C>A (p.Thr869=)
c.2658C>A (p.Thr886=)
c.*499C>A (n.*499C>A)
c.756C>A (p.Thr252=)
c.2520C>A (p.Thr840=)
c.2511C>A (p.Thr837=)
c.-125G>T (n.-125G>T)
c.-393G>T (n.-393G>T)
c.-278G>T (n.-278G>T)
c.768C>A (p.Thr256=)
 dbSNP COSMIC
2g.165130205G>ACA349042827SCN2A,SCN3Ac.2606C>T (p.Thr869Ile)
c.2657C>T (p.Thr886Ile)
c.*498C>T (n.*498C>T)
c.755C>T (p.Thr252Ile)
c.2519C>T (p.Thr840Ile)
c.2510C>T (p.Thr837Ile)
c.-125+1G>A (n.-125+1G>A)
c.-393+1G>A (n.-393+1G>A)
c.-278+1G>A (n.-278+1G>A)
c.767C>T (p.Thr256Ile)
 ClinVar dbSNP
2g.165130205G>CCA349042828SCN2A,SCN3Ac.2606C>G (p.Thr869Ser)
c.2657C>G (p.Thr886Ser)
c.*498C>G (n.*498C>G)
c.755C>G (p.Thr252Ser)
c.2519C>G (p.Thr840Ser)
c.2510C>G (p.Thr837Ser)
c.-125+1G>C (n.-125+1G>C)
c.-393+1G>C (n.-393+1G>C)
c.-278+1G>C (n.-278+1G>C)
c.767C>G (p.Thr256Ser)
2g.165130205G>TCA349042829SCN2A,SCN3Ac.2606C>A (p.Thr869Asn)
c.2657C>A (p.Thr886Asn)
c.*498C>A (n.*498C>A)
c.755C>A (p.Thr252Asn)
c.2519C>A (p.Thr840Asn)
c.2510C>A (p.Thr837Asn)
c.-125+1G>T (n.-125+1G>T)
c.-393+1G>T (n.-393+1G>T)
c.-278+1G>T (n.-278+1G>T)
c.767C>A (p.Thr256Asn)
2g.165130206T>ACA349042830SCN2A,SCN3Ac.2605A>T (p.Thr869Ser)
c.2656A>T (p.Thr886Ser)
c.*497A>T (n.*497A>T)
c.754A>T (p.Thr252Ser)
c.2518A>T (p.Thr840Ser)
c.2509A>T (p.Thr837Ser)
c.-125+2T>A (n.-125+2T>A)
c.-393+2T>A (n.-393+2T>A)
c.-278+2T>A (n.-278+2T>A)
c.766A>T (p.Thr256Ser)
2g.165130206T>CCA349042831SCN2A,SCN3Ac.2605A>G (p.Thr869Ala)
c.2656A>G (p.Thr886Ala)
c.*497A>G (n.*497A>G)
c.754A>G (p.Thr252Ala)
c.2518A>G (p.Thr840Ala)
c.2509A>G (p.Thr837Ala)
c.-125+2T>C (n.-125+2T>C)
c.-393+2T>C (n.-393+2T>C)
c.-278+2T>C (n.-278+2T>C)
c.766A>G (p.Thr256Ala)
2g.165130206T>GCA349042832SCN2A,SCN3Ac.2605A>C (p.Thr869Pro)
c.2656A>C (p.Thr886Pro)
c.*497A>C (n.*497A>C)
c.754A>C (p.Thr252Pro)
c.2518A>C (p.Thr840Pro)
c.2509A>C (p.Thr837Pro)
c.-125+2T>G (n.-125+2T>G)
c.-393+2T>G (n.-393+2T>G)
c.-278+2T>G (n.-278+2T>G)
c.766A>C (p.Thr256Pro)
 ClinVar dbSNP
2g.165130207G>ACA429884029SCN2A,SCN3Ac.2604C>T (p.Leu868=)
c.2655C>T (p.Leu885=)
c.*496C>T (n.*496C>T)
c.753C>T (p.Leu251=)
c.2517C>T (p.Leu839=)
c.2508C>T (p.Leu836=)
c.-125+3G>A (n.-125+3G>A)
c.-393+3G>A (n.-393+3G>A)
c.-278+3G>A (n.-278+3G>A)
c.765C>T (p.Leu255=)
2g.165130207G>CCA429884030SCN2A,SCN3Ac.2604C>G (p.Leu868=)
c.2655C>G (p.Leu885=)
c.*496C>G (n.*496C>G)
c.753C>G (p.Leu251=)
c.2517C>G (p.Leu839=)
c.2508C>G (p.Leu836=)
c.-125+3G>C (n.-125+3G>C)
c.-393+3G>C (n.-393+3G>C)
c.-278+3G>C (n.-278+3G>C)
c.765C>G (p.Leu255=)
2g.165130207G>TCA429884031SCN2A,SCN3Ac.2604C>A (p.Leu868=)
c.2655C>A (p.Leu885=)
c.*496C>A (n.*496C>A)
c.753C>A (p.Leu251=)
c.2517C>A (p.Leu839=)
c.2508C>A (p.Leu836=)
c.-125+3G>T (n.-125+3G>T)
c.-393+3G>T (n.-393+3G>T)
c.-278+3G>T (n.-278+3G>T)
c.765C>A (p.Leu255=)
2g.165130208A>CCA349042833SCN2A,SCN3Ac.2603T>G (p.Leu868Arg)
c.2654T>G (p.Leu885Arg)
c.*495T>G (n.*495T>G)
c.752T>G (p.Leu251Arg)
c.2516T>G (p.Leu839Arg)
c.2507T>G (p.Leu836Arg)
c.-125+4A>C (n.-125+4A>C)
c.-393+4A>C (n.-393+4A>C)
c.-278+4A>C (n.-278+4A>C)
c.764T>G (p.Leu255Arg)
2g.165130208A>GCA349042834SCN2A,SCN3Ac.2603T>C (p.Leu868Pro)
c.2654T>C (p.Leu885Pro)
c.*495T>C (n.*495T>C)
c.752T>C (p.Leu251Pro)
c.2516T>C (p.Leu839Pro)
c.2507T>C (p.Leu836Pro)
c.-125+4A>G (n.-125+4A>G)
c.-393+4A>G (n.-393+4A>G)
c.-278+4A>G (n.-278+4A>G)
c.764T>C (p.Leu255Pro)
2g.165130208A>TCA349042835SCN2A,SCN3Ac.2603T>A (p.Leu868His)
c.2654T>A (p.Leu885His)
c.*495T>A (n.*495T>A)
c.752T>A (p.Leu251His)
c.2516T>A (p.Leu839His)
c.2507T>A (p.Leu836His)
c.-125+4A>T (n.-125+4A>T)
c.-393+4A>T (n.-393+4A>T)
c.-278+4A>T (n.-278+4A>T)
c.764T>A (p.Leu255His)
2g.165130209G>ACA349042838SCN2A,SCN3Ac.2602C>T (p.Leu868Phe)
c.2653C>T (p.Leu885Phe)
c.*494C>T (n.*494C>T)
c.751C>T (p.Leu251Phe)
c.2515C>T (p.Leu839Phe)
c.2506C>T (p.Leu836Phe)
c.-125+5G>A (n.-125+5G>A)
c.-393+5G>A (n.-393+5G>A)
c.-278+5G>A (n.-278+5G>A)
c.763C>T (p.Leu255Phe)
 ClinVar dbSNP
2g.165130209G>CCA349042837SCN2A,SCN3Ac.2602C>G (p.Leu868Val)
c.2653C>G (p.Leu885Val)
c.*494C>G (n.*494C>G)
c.751C>G (p.Leu251Val)
c.2515C>G (p.Leu839Val)
c.2506C>G (p.Leu836Val)
c.-125+5G>C (n.-125+5G>C)
c.-393+5G>C (n.-393+5G>C)
c.-278+5G>C (n.-278+5G>C)
c.763C>G (p.Leu255Val)
2g.165130209G>TCA349042836SCN2A,SCN3Ac.2602C>A (p.Leu868Ile)
c.2653C>A (p.Leu885Ile)
c.*494C>A (n.*494C>A)
c.751C>A (p.Leu251Ile)
c.2515C>A (p.Leu839Ile)
c.2506C>A (p.Leu836Ile)
c.-125+5G>T (n.-125+5G>T)
c.-393+5G>T (n.-393+5G>T)
c.-278+5G>T (n.-278+5G>T)
c.763C>A (p.Leu255Ile)
2g.165130210G>ACA1938914SCN2A,SCN3Ac.2601C>T (p.Asn867=)
c.2652C>T (p.Asn884=)
c.*493C>T (n.*493C>T)
c.750C>T (p.Asn250=)
c.2514C>T (p.Asn838=)
c.2505C>T (p.Asn835=)
c.-125+6G>A (n.-125+6G>A)
c.-393+6G>A (n.-393+6G>A)
c.-278+6G>A (n.-278+6G>A)
c.762C>T (p.Asn254=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165130210G>CCA349042839SCN2A,SCN3Ac.2601C>G (p.Asn867Lys)
c.2652C>G (p.Asn884Lys)
c.*493C>G (n.*493C>G)
c.750C>G (p.Asn250Lys)
c.2514C>G (p.Asn838Lys)
c.2505C>G (p.Asn835Lys)
c.-125+6G>C (n.-125+6G>C)
c.-393+6G>C (n.-393+6G>C)
c.-278+6G>C (n.-278+6G>C)
c.762C>G (p.Asn254Lys)
2g.165130210G=CA1304452139SCN2A,SCN3Ac.2601C= (p.Asn867=)
c.2652C= (p.Asn884=)
c.*493C= (n.*493C=)
c.750C= (p.Asn250=)
c.2514C= (p.Asn838=)
c.2505C= (p.Asn835=)
c.-125+6G= (n.-125+6G=)
c.-393+6G= (n.-393+6G=)
c.-278+6G= (n.-278+6G=)
c.762C= (p.Asn254=)
2g.165130210G>TCA349042840SCN2A,SCN3Ac.2601C>A (p.Asn867Lys)
c.2652C>A (p.Asn884Lys)
c.*493C>A (n.*493C>A)
c.750C>A (p.Asn250Lys)
c.2514C>A (p.Asn838Lys)
c.2505C>A (p.Asn835Lys)
c.-125+6G>T (n.-125+6G>T)
c.-393+6G>T (n.-393+6G>T)
c.-278+6G>T (n.-278+6G>T)
c.762C>A (p.Asn254Lys)
2g.165130211T>ACA349042841SCN2A,SCN3Ac.2600A>T (p.Asn867Ile)
c.2651A>T (p.Asn884Ile)
c.*492A>T (n.*492A>T)
c.749A>T (p.Asn250Ile)
c.2513A>T (p.Asn838Ile)
c.2504A>T (p.Asn835Ile)
c.-125+7T>A (n.-125+7T>A)
c.-393+7T>A (n.-393+7T>A)
c.-278+7T>A (n.-278+7T>A)
c.761A>T (p.Asn254Ile)
2g.165130211T>CCA349042842SCN2A,SCN3Ac.2600A>G (p.Asn867Ser)
c.2651A>G (p.Asn884Ser)
c.*492A>G (n.*492A>G)
c.749A>G (p.Asn250Ser)
c.2513A>G (p.Asn838Ser)
c.2504A>G (p.Asn835Ser)
c.-125+7T>C (n.-125+7T>C)
c.-393+7T>C (n.-393+7T>C)
c.-278+7T>C (n.-278+7T>C)
c.761A>G (p.Asn254Ser)
2g.165130211T>GCA349042843SCN2A,SCN3Ac.2600A>C (p.Asn867Thr)
c.2651A>C (p.Asn884Thr)
c.*492A>C (n.*492A>C)
c.749A>C (p.Asn250Thr)
c.2513A>C (p.Asn838Thr)
c.2504A>C (p.Asn835Thr)
c.-125+7T>G (n.-125+7T>G)
c.-393+7T>G (n.-393+7T>G)
c.-278+7T>G (n.-278+7T>G)
c.761A>C (p.Asn254Thr)
2g.165130212T>ACA349042844SCN2A,SCN3Ac.2599A>T (p.Asn867Tyr)
c.2650A>T (p.Asn884Tyr)
c.*491A>T (n.*491A>T)
c.748A>T (p.Asn250Tyr)
c.2512A>T (p.Asn838Tyr)
c.2503A>T (p.Asn835Tyr)
c.-125+8T>A (n.-125+8T>A)
c.-393+8T>A (n.-393+8T>A)
c.-278+8T>A (n.-278+8T>A)
c.760A>T (p.Asn254Tyr)
2g.165130212T>CCA349042845SCN2A,SCN3Ac.2599A>G (p.Asn867Asp)
c.2650A>G (p.Asn884Asp)
c.*491A>G (n.*491A>G)
c.748A>G (p.Asn250Asp)
c.2512A>G (p.Asn838Asp)
c.2503A>G (p.Asn835Asp)
c.-125+8T>C (n.-125+8T>C)
c.-393+8T>C (n.-393+8T>C)
c.-278+8T>C (n.-278+8T>C)
c.760A>G (p.Asn254Asp)
2g.165130212T>GCA349042846SCN2A,SCN3Ac.2599A>C (p.Asn867His)
c.2650A>C (p.Asn884His)
c.*491A>C (n.*491A>C)
c.748A>C (p.Asn250His)
c.2512A>C (p.Asn838His)
c.2503A>C (p.Asn835His)
c.-125+8T>G (n.-125+8T>G)
c.-393+8T>G (n.-393+8T>G)
c.-278+8T>G (n.-278+8T>G)
c.760A>C (p.Asn254His)
2g.165130213T>ACA429884032SCN2A,SCN3Ac.2598A>T (p.Gly866=)
c.2649A>T (p.Gly883=)
c.*490A>T (n.*490A>T)
c.747A>T (p.Gly249=)
c.2511A>T (p.Gly837=)
c.2502A>T (p.Gly834=)
c.-125+9T>A (n.-125+9T>A)
c.-393+9T>A (n.-393+9T>A)
c.-278+9T>A (n.-278+9T>A)
c.759A>T (p.Gly253=)
2g.165130213T>CCA429884033SCN2A,SCN3Ac.2598A>G (p.Gly866=)
c.2649A>G (p.Gly883=)
c.*490A>G (n.*490A>G)
c.747A>G (p.Gly249=)
c.2511A>G (p.Gly837=)
c.2502A>G (p.Gly834=)
c.-125+9T>C (n.-125+9T>C)
c.-393+9T>C (n.-393+9T>C)
c.-278+9T>C (n.-278+9T>C)
c.759A>G (p.Gly253=)
2g.165130213T>GCA429884034SCN2A,SCN3Ac.2598A>C (p.Gly866=)
c.2649A>C (p.Gly883=)
c.*490A>C (n.*490A>C)
c.747A>C (p.Gly249=)
c.2511A>C (p.Gly837=)
c.2502A>C (p.Gly834=)
c.-125+9T>G (n.-125+9T>G)
c.-393+9T>G (n.-393+9T>G)
c.-278+9T>G (n.-278+9T>G)
c.759A>C (p.Gly253=)
2g.165130214C>ACA349042847SCN2A,SCN3Ac.2597G>T (p.Gly866Val)
c.2648G>T (p.Gly883Val)
c.*489G>T (n.*489G>T)
c.746G>T (p.Gly249Val)
c.2510G>T (p.Gly837Val)
c.2501G>T (p.Gly834Val)
c.-125+10C>A (n.-125+10C>A)
c.-393+10C>A (n.-393+10C>A)
c.-278+10C>A (n.-278+10C>A)
c.758G>T (p.Gly253Val)
2g.165130214C>GCA349042848SCN2A,SCN3Ac.2597G>C (p.Gly866Ala)
c.2648G>C (p.Gly883Ala)
c.*489G>C (n.*489G>C)
c.746G>C (p.Gly249Ala)
c.2510G>C (p.Gly837Ala)
c.2501G>C (p.Gly834Ala)
c.-125+10C>G (n.-125+10C>G)
c.-393+10C>G (n.-393+10C>G)
c.-278+10C>G (n.-278+10C>G)
c.758G>C (p.Gly253Ala)
2g.165130214C>TCA349042849SCN2A,SCN3Ac.2597G>A (p.Gly866Glu)
c.2648G>A (p.Gly883Glu)
c.*489G>A (n.*489G>A)
c.746G>A (p.Gly249Glu)
c.2510G>A (p.Gly837Glu)
c.2501G>A (p.Gly834Glu)
c.-125+10C>T (n.-125+10C>T)
c.-393+10C>T (n.-393+10C>T)
c.-278+10C>T (n.-278+10C>T)
c.758G>A (p.Gly253Glu)
 COSMIC COSMIC
2g.165130215C>ACA349042850SCN2A,SCN3Ac.2596G>T (p.Gly866Ter)
c.2647G>T (p.Gly883Ter)
c.*488G>T (n.*488G>T)
c.745G>T (p.Gly249Ter)
c.2509G>T (p.Gly837Ter)
c.2500G>T (p.Gly834Ter)
c.-125+11C>A (n.-125+11C>A)
c.-393+11C>A (n.-393+11C>A)
c.-278+11C>A (n.-278+11C>A)
c.757G>T (p.Gly253Ter)
 dbSNP
2g.165130215C=CA1304452140SCN2A,SCN3Ac.2596G= (p.Gly866=)
c.2647G= (p.Gly883=)
c.*488G= (n.*488G=)
c.745G= (p.Gly249=)
c.2509G= (p.Gly837=)
c.2500G= (p.Gly834=)
c.-125+11C= (n.-125+11C=)
c.-393+11C= (n.-393+11C=)
c.-278+11C= (n.-278+11C=)
c.757G= (p.Gly253=)
2g.165130215C>GCA349042852SCN2A,SCN3Ac.2596G>C (p.Gly866Arg)
c.2647G>C (p.Gly883Arg)
c.*488G>C (n.*488G>C)
c.745G>C (p.Gly249Arg)
c.2509G>C (p.Gly837Arg)
c.2500G>C (p.Gly834Arg)
c.-125+11C>G (n.-125+11C>G)
c.-393+11C>G (n.-393+11C>G)
c.-278+11C>G (n.-278+11C>G)
c.757G>C (p.Gly253Arg)
 COSMIC COSMIC
2g.165130215C>TCA349042851SCN2A,SCN3Ac.2596G>A (p.Gly866Arg)
c.2647G>A (p.Gly883Arg)
c.*488G>A (n.*488G>A)
c.745G>A (p.Gly249Arg)
c.2509G>A (p.Gly837Arg)
c.2500G>A (p.Gly834Arg)
c.-125+11C>T (n.-125+11C>T)
c.-393+11C>T (n.-393+11C>T)
c.-278+11C>T (n.-278+11C>T)
c.757G>A (p.Gly253Arg)
2g.165130216T>ACA429884035SCN2A,SCN3Ac.2595A>T (p.Leu865=)
c.2646A>T (p.Leu882=)
c.*487A>T (n.*487A>T)
c.744A>T (p.Leu248=)
c.2508A>T (p.Leu836=)
c.2499A>T (p.Leu833=)
c.-125+12T>A (n.-125+12T>A)
c.-393+12T>A (n.-393+12T>A)
c.-278+12T>A (n.-278+12T>A)
c.756A>T (p.Leu252=)
 ClinVar dbSNP
2g.165130216T>CCA429884036SCN2A,SCN3Ac.2595A>G (p.Leu865=)
c.2646A>G (p.Leu882=)
c.*487A>G (n.*487A>G)
c.744A>G (p.Leu248=)
c.2508A>G (p.Leu836=)
c.2499A>G (p.Leu833=)
c.-125+12T>C (n.-125+12T>C)
c.-393+12T>C (n.-393+12T>C)
c.-278+12T>C (n.-278+12T>C)
c.756A>G (p.Leu252=)
2g.165130216T>GCA429884037SCN2A,SCN3Ac.2595A>C (p.Leu865=)
c.2646A>C (p.Leu882=)
c.*487A>C (n.*487A>C)
c.744A>C (p.Leu248=)
c.2508A>C (p.Leu836=)
c.2499A>C (p.Leu833=)
c.-125+12T>G (n.-125+12T>G)
c.-393+12T>G (n.-393+12T>G)
c.-278+12T>G (n.-278+12T>G)
c.756A>C (p.Leu252=)
2g.165130216T=CA1304452141SCN2A,SCN3Ac.2595A= (p.Leu865=)
c.2646A= (p.Leu882=)
c.*487A= (n.*487A=)
c.744A= (p.Leu248=)
c.2508A= (p.Leu836=)
c.2499A= (p.Leu833=)
c.-125+12T= (n.-125+12T=)
c.-393+12T= (n.-393+12T=)
c.-278+12T= (n.-278+12T=)
c.756A= (p.Leu252=)
2g.165130217A>CCA349042853SCN2A,SCN3Ac.2594T>G (p.Leu865Arg)
c.2645T>G (p.Leu882Arg)
c.*486T>G (n.*486T>G)
c.743T>G (p.Leu248Arg)
c.2507T>G (p.Leu836Arg)
c.2498T>G (p.Leu833Arg)
c.-125+13A>C (n.-125+13A>C)
c.-393+13A>C (n.-393+13A>C)
c.-278+13A>C (n.-278+13A>C)
c.755T>G (p.Leu252Arg)
2g.165130217A>GCA349042855SCN2A,SCN3Ac.2594T>C (p.Leu865Pro)
c.2645T>C (p.Leu882Pro)
c.*486T>C (n.*486T>C)
c.743T>C (p.Leu248Pro)
c.2507T>C (p.Leu836Pro)
c.2498T>C (p.Leu833Pro)
c.-125+13A>G (n.-125+13A>G)
c.-393+13A>G (n.-393+13A>G)
c.-278+13A>G (n.-278+13A>G)
c.755T>C (p.Leu252Pro)
2g.165130217A>TCA349042854SCN2A,SCN3Ac.2594T>A (p.Leu865Gln)
c.2645T>A (p.Leu882Gln)
c.*486T>A (n.*486T>A)
c.743T>A (p.Leu248Gln)
c.2507T>A (p.Leu836Gln)
c.2498T>A (p.Leu833Gln)
c.-125+13A>T (n.-125+13A>T)
c.-393+13A>T (n.-393+13A>T)
c.-278+13A>T (n.-278+13A>T)
c.755T>A (p.Leu252Gln)
2g.165130218G>ACA429884038SCN2A,SCN3Ac.2593C>T (p.Leu865=)
c.2644C>T (p.Leu882=)
c.*485C>T (n.*485C>T)
c.742C>T (p.Leu248=)
c.2506C>T (p.Leu836=)
c.2497C>T (p.Leu833=)
c.-125+14G>A (n.-125+14G>A)
c.-393+14G>A (n.-393+14G>A)
c.-278+14G>A (n.-278+14G>A)
c.754C>T (p.Leu252=)
 COSMIC COSMIC
2g.165130218G>CCA1938915SCN2A,SCN3Ac.2593C>G (p.Leu865Val)
c.2644C>G (p.Leu882Val)
c.*485C>G (n.*485C>G)
c.742C>G (p.Leu248Val)
c.2506C>G (p.Leu836Val)
c.2497C>G (p.Leu833Val)
c.-125+14G>C (n.-125+14G>C)
c.-393+14G>C (n.-393+14G>C)
c.-278+14G>C (n.-278+14G>C)
c.754C>G (p.Leu252Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165130218G=CA1304452142SCN2A,SCN3Ac.2593C= (p.Leu865=)
c.2644C= (p.Leu882=)
c.*485C= (n.*485C=)
c.742C= (p.Leu248=)
c.2506C= (p.Leu836=)
c.2497C= (p.Leu833=)
c.-125+14G= (n.-125+14G=)
c.-393+14G= (n.-393+14G=)
c.-278+14G= (n.-278+14G=)
c.754C= (p.Leu252=)
2g.165130218G>TCA349042856SCN2A,SCN3Ac.2593C>A (p.Leu865Ile)
c.2644C>A (p.Leu882Ile)
c.*485C>A (n.*485C>A)
c.742C>A (p.Leu248Ile)
c.2506C>A (p.Leu836Ile)
c.2497C>A (p.Leu833Ile)
c.-125+14G>T (n.-125+14G>T)
c.-393+14G>T (n.-393+14G>T)
c.-278+14G>T (n.-278+14G>T)
c.754C>A (p.Leu252Ile)
2g.165130219A>CCA429884039SCN2A,SCN3Ac.2592T>G (p.Ala864=)
c.2643T>G (p.Ala881=)
c.*484T>G (n.*484T>G)
c.741T>G (p.Ala247=)
c.2505T>G (p.Ala835=)
c.2496T>G (p.Ala832=)
c.-125+15A>C (n.-125+15A>C)
c.-393+15A>C (n.-393+15A>C)
c.-278+15A>C (n.-278+15A>C)
c.753T>G (p.Ala251=)
2g.165130219A>GCA429884040SCN2A,SCN3Ac.2592T>C (p.Ala864=)
c.2643T>C (p.Ala881=)
c.*484T>C (n.*484T>C)
c.741T>C (p.Ala247=)
c.2505T>C (p.Ala835=)
c.2496T>C (p.Ala832=)
c.-125+15A>G (n.-125+15A>G)
c.-393+15A>G (n.-393+15A>G)
c.-278+15A>G (n.-278+15A>G)
c.753T>C (p.Ala251=)
2g.165130219A>TCA429884041SCN2A,SCN3Ac.2592T>A (p.Ala864=)
c.2643T>A (p.Ala881=)
c.*484T>A (n.*484T>A)
c.741T>A (p.Ala247=)
c.2505T>A (p.Ala835=)
c.2496T>A (p.Ala832=)
c.-125+15A>T (n.-125+15A>T)
c.-393+15A>T (n.-393+15A>T)
c.-278+15A>T (n.-278+15A>T)
c.753T>A (p.Ala251=)
2g.165130220G>ACA349042857SCN2A,SCN3Ac.2591C>T (p.Ala864Val)
c.2642C>T (p.Ala881Val)
c.*483C>T (n.*483C>T)
c.740C>T (p.Ala247Val)
c.2504C>T (p.Ala835Val)
c.2495C>T (p.Ala832Val)
c.-125+16G>A (n.-125+16G>A)
c.-393+16G>A (n.-393+16G>A)
c.-278+16G>A (n.-278+16G>A)
c.752C>T (p.Ala251Val)
 COSMIC COSMIC
2g.165130220G>CCA349042858SCN2A,SCN3Ac.2591C>G (p.Ala864Gly)
c.2642C>G (p.Ala881Gly)
c.*483C>G (n.*483C>G)
c.740C>G (p.Ala247Gly)
c.2504C>G (p.Ala835Gly)
c.2495C>G (p.Ala832Gly)
c.-125+16G>C (n.-125+16G>C)
c.-393+16G>C (n.-393+16G>C)
c.-278+16G>C (n.-278+16G>C)
c.752C>G (p.Ala251Gly)
2g.165130220G>TCA349042859SCN2A,SCN3Ac.2591C>A (p.Ala864Asp)
c.2642C>A (p.Ala881Asp)
c.*483C>A (n.*483C>A)
c.740C>A (p.Ala247Asp)
c.2504C>A (p.Ala835Asp)
c.2495C>A (p.Ala832Asp)
c.-125+16G>T (n.-125+16G>T)
c.-393+16G>T (n.-393+16G>T)
c.-278+16G>T (n.-278+16G>T)
c.752C>A (p.Ala251Asp)
2g.165130221C>ACA349042860SCN2A,SCN3Ac.2590G>T (p.Ala864Ser)
c.2641G>T (p.Ala881Ser)
c.*482G>T (n.*482G>T)
c.739G>T (p.Ala247Ser)
c.2503G>T (p.Ala835Ser)
c.2494G>T (p.Ala832Ser)
c.-125+17C>A (n.-125+17C>A)
c.-393+17C>A (n.-393+17C>A)
c.-278+17C>A (n.-278+17C>A)
c.751G>T (p.Ala251Ser)
2g.165130221C>GCA349042861SCN2A,SCN3Ac.2590G>C (p.Ala864Pro)
c.2641G>C (p.Ala881Pro)
c.*482G>C (n.*482G>C)
c.739G>C (p.Ala247Pro)
c.2503G>C (p.Ala835Pro)
c.2494G>C (p.Ala832Pro)
c.-125+17C>G (n.-125+17C>G)
c.-393+17C>G (n.-393+17C>G)
c.-278+17C>G (n.-278+17C>G)
c.751G>C (p.Ala251Pro)
2g.165130221C>TCA349042862SCN2A,SCN3Ac.2590G>A (p.Ala864Thr)
c.2641G>A (p.Ala881Thr)
c.*482G>A (n.*482G>A)
c.739G>A (p.Ala247Thr)
c.2503G>A (p.Ala835Thr)
c.2494G>A (p.Ala832Thr)
c.-125+17C>T (n.-125+17C>T)
c.-393+17C>T (n.-393+17C>T)
c.-278+17C>T (n.-278+17C>T)
c.751G>A (p.Ala251Thr)
 ClinVar
2g.165130225dupCA2577141845SCN2A,SCN3Ac.2590dup (p.Ala864GlyfsTer26)
c.2641dup (p.Ala881GlyfsTer26)
c.*482dup (n.*482dup)
c.739dup (p.Ala247GlyfsTer26)
c.2503dup (p.Ala835GlyfsTer26)
c.2494dup (p.Ala832GlyfsTer26)
c.-125+21dup (n.-125+21dup)
c.-393+21dup (n.-393+21dup)
c.-278+21dup (n.-278+21dup)
c.751dup (p.Ala251GlyfsTer26)
2g.165130222C>ACA59734342SCN2A,SCN3Ac.2589G>T (p.Gly863=)
c.2640G>T (p.Gly880=)
c.*481G>T (n.*481G>T)
c.738G>T (p.Gly246=)
c.2502G>T (p.Gly834=)
c.2493G>T (p.Gly831=)
c.-125+18C>A (n.-125+18C>A)
c.-393+18C>A (n.-393+18C>A)
c.-278+18C>A (n.-278+18C>A)
c.750G>T (p.Gly250=)
 dbSNP gnomAD v4
2g.165130222C=CA1304452143SCN2A,SCN3Ac.2589G= (p.Gly863=)
c.2640G= (p.Gly880=)
c.*481G= (n.*481G=)
c.738G= (p.Gly246=)
c.2502G= (p.Gly834=)
c.2493G= (p.Gly831=)
c.-125+18C= (n.-125+18C=)
c.-393+18C= (n.-393+18C=)
c.-278+18C= (n.-278+18C=)
c.750G= (p.Gly250=)
2g.165130222C>GCA429884042SCN2A,SCN3Ac.2589G>C (p.Gly863=)
c.2640G>C (p.Gly880=)
c.*481G>C (n.*481G>C)
c.738G>C (p.Gly246=)
c.2502G>C (p.Gly834=)
c.2493G>C (p.Gly831=)
c.-125+18C>G (n.-125+18C>G)
c.-393+18C>G (n.-393+18C>G)
c.-278+18C>G (n.-278+18C>G)
c.750G>C (p.Gly250=)
2g.165130222C>TCA1938916SCN2A,SCN3Ac.2589G>A (p.Gly863=)
c.2640G>A (p.Gly880=)
c.*481G>A (n.*481G>A)
c.738G>A (p.Gly246=)
c.2502G>A (p.Gly834=)
c.2493G>A (p.Gly831=)
c.-125+18C>T (n.-125+18C>T)
c.-393+18C>T (n.-393+18C>T)
c.-278+18C>T (n.-278+18C>T)
c.750G>A (p.Gly250=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.165130223C>ACA349042863SCN2A,SCN3Ac.2588G>T (p.Gly863Val)
c.2639G>T (p.Gly880Val)
c.*480G>T (n.*480G>T)
c.737G>T (p.Gly246Val)
c.2501G>T (p.Gly834Val)
c.2492G>T (p.Gly831Val)
c.-125+19C>A (n.-125+19C>A)
c.-393+19C>A (n.-393+19C>A)
c.-278+19C>A (n.-278+19C>A)
c.749G>T (p.Gly250Val)
2g.165130223C=CA1304452144SCN2A,SCN3Ac.2588G= (p.Gly863=)
c.2639G= (p.Gly880=)
c.*480G= (n.*480G=)
c.737G= (p.Gly246=)
c.2501G= (p.Gly834=)
c.2492G= (p.Gly831=)
c.-125+19C= (n.-125+19C=)
c.-393+19C= (n.-393+19C=)
c.-278+19C= (n.-278+19C=)
c.749G= (p.Gly250=)
2g.165130223C>GCA349042864SCN2A,SCN3Ac.2588G>C (p.Gly863Ala)
c.2639G>C (p.Gly880Ala)
c.*480G>C (n.*480G>C)
c.737G>C (p.Gly246Ala)
c.2501G>C (p.Gly834Ala)
c.2492G>C (p.Gly831Ala)
c.-125+19C>G (n.-125+19C>G)
c.-393+19C>G (n.-393+19C>G)
c.-278+19C>G (n.-278+19C>G)
c.749G>C (p.Gly250Ala)
 dbSNP
2g.165130223C>TCA349042865SCN2A,SCN3Ac.2588G>A (p.Gly863Glu)
c.2639G>A (p.Gly880Glu)
c.*480G>A (n.*480G>A)
c.737G>A (p.Gly246Glu)
c.2501G>A (p.Gly834Glu)
c.2492G>A (p.Gly831Glu)
c.-125+19C>T (n.-125+19C>T)
c.-393+19C>T (n.-393+19C>T)
c.-278+19C>T (n.-278+19C>T)
c.749G>A (p.Gly250Glu)
2g.165130224C>ACA349042866SCN2A,SCN3Ac.2587G>T (p.Gly863Trp)
c.2638G>T (p.Gly880Trp)
c.*479G>T (n.*479G>T)
c.736G>T (p.Gly246Trp)
c.2500G>T (p.Gly834Trp)
c.2491G>T (p.Gly831Trp)
c.-125+20C>A (n.-125+20C>A)
c.-393+20C>A (n.-393+20C>A)
c.-278+20C>A (n.-278+20C>A)
c.748G>T (p.Gly250Trp)
2g.165130224C>GCA349042867SCN2A,SCN3Ac.2587G>C (p.Gly863Arg)
c.2638G>C (p.Gly880Arg)
c.*479G>C (n.*479G>C)
c.736G>C (p.Gly246Arg)
c.2500G>C (p.Gly834Arg)
c.2491G>C (p.Gly831Arg)
c.-125+20C>G (n.-125+20C>G)
c.-393+20C>G (n.-393+20C>G)
c.-278+20C>G (n.-278+20C>G)
c.748G>C (p.Gly250Arg)
2g.165130224C>TCA349042868SCN2A,SCN3Ac.2587G>A (p.Gly863Arg)
c.2638G>A (p.Gly880Arg)
c.*479G>A (n.*479G>A)
c.736G>A (p.Gly246Arg)
c.2500G>A (p.Gly834Arg)
c.2491G>A (p.Gly831Arg)
c.-125+20C>T (n.-125+20C>T)
c.-393+20C>T (n.-393+20C>T)
c.-278+20C>T (n.-278+20C>T)
c.748G>A (p.Gly250Arg)
 COSMIC COSMIC
2g.165130225C>ACA429884043SCN2A,SCN3Ac.2586G>T (p.Val862=)
c.2637G>T (p.Val879=)
c.*478G>T (n.*478G>T)
c.735G>T (p.Val245=)
c.2499G>T (p.Val833=)
c.2490G>T (p.Val830=)
c.-125+21C>A (n.-125+21C>A)
c.-393+21C>A (n.-393+21C>A)
c.-278+21C>A (n.-278+21C>A)
c.747G>T (p.Val249=)
2g.165130225C=CA1304452145SCN2A,SCN3Ac.2586G= (p.Val862=)
c.2637G= (p.Val879=)
c.*478G= (n.*478G=)
c.735G= (p.Val245=)
c.2499G= (p.Val833=)
c.2490G= (p.Val830=)
c.-125+21C= (n.-125+21C=)
c.-393+21C= (n.-393+21C=)
c.-278+21C= (n.-278+21C=)
c.747G= (p.Val249=)
2g.165130225C>GCA1938917SCN2A,SCN3Ac.2586G>C (p.Val862=)
c.2637G>C (p.Val879=)
c.*478G>C (n.*478G>C)
c.735G>C (p.Val245=)
c.2499G>C (p.Val833=)
c.2490G>C (p.Val830=)
c.-125+21C>G (n.-125+21C>G)
c.-393+21C>G (n.-393+21C>G)
c.-278+21C>G (n.-278+21C>G)
c.747G>C (p.Val249=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165130225C>TCA429884044SCN2A,SCN3Ac.2586G>A (p.Val862=)
c.2637G>A (p.Val879=)
c.*478G>A (n.*478G>A)
c.735G>A (p.Val245=)
c.2499G>A (p.Val833=)
c.2490G>A (p.Val830=)
c.-125+21C>T (n.-125+21C>T)
c.-393+21C>T (n.-393+21C>T)
c.-278+21C>T (n.-278+21C>T)
c.747G>A (p.Val249=)
2g.165130226A>CCA349042869SCN2A,SCN3Ac.2585T>G (p.Val862Gly)
c.2636T>G (p.Val879Gly)
c.*477T>G (n.*477T>G)
c.734T>G (p.Val245Gly)
c.2498T>G (p.Val833Gly)
c.2489T>G (p.Val830Gly)
c.-125+22A>C (n.-125+22A>C)
c.-393+22A>C (n.-393+22A>C)
c.-278+22A>C (n.-278+22A>C)
c.746T>G (p.Val249Gly)
2g.165130226A>GCA349042870SCN2A,SCN3Ac.2585T>C (p.Val862Ala)
c.2636T>C (p.Val879Ala)
c.*477T>C (n.*477T>C)
c.734T>C (p.Val245Ala)
c.2498T>C (p.Val833Ala)
c.2489T>C (p.Val830Ala)
c.-125+22A>G (n.-125+22A>G)
c.-393+22A>G (n.-393+22A>G)
c.-278+22A>G (n.-278+22A>G)
c.746T>C (p.Val249Ala)
2g.165130226A>TCA349042871SCN2A,SCN3Ac.2585T>A (p.Val862Glu)
c.2636T>A (p.Val879Glu)
c.*477T>A (n.*477T>A)
c.734T>A (p.Val245Glu)
c.2498T>A (p.Val833Glu)
c.2489T>A (p.Val830Glu)
c.-125+22A>T (n.-125+22A>T)
c.-393+22A>T (n.-393+22A>T)
c.-278+22A>T (n.-278+22A>T)
c.746T>A (p.Val249Glu)
2g.165130227C>ACA349042872SCN2A,SCN3Ac.2584G>T (p.Val862Leu)
c.2635G>T (p.Val879Leu)
c.*476G>T (n.*476G>T)
c.733G>T (p.Val245Leu)
c.2497G>T (p.Val833Leu)
c.2488G>T (p.Val830Leu)
c.-125+23C>A (n.-125+23C>A)
c.-393+23C>A (n.-393+23C>A)
c.-278+23C>A (n.-278+23C>A)
c.745G>T (p.Val249Leu)
 dbSNP COSMIC COSMIC
2g.165130227C=CA1304452146SCN2A,SCN3Ac.2584G= (p.Val862=)
c.2635G= (p.Val879=)
c.*476G= (n.*476G=)
c.733G= (p.Val245=)
c.2497G= (p.Val833=)
c.2488G= (p.Val830=)
c.-125+23C= (n.-125+23C=)
c.-393+23C= (n.-393+23C=)
c.-278+23C= (n.-278+23C=)
c.745G= (p.Val249=)
2g.165130227C>GCA349042873SCN2A,SCN3Ac.2584G>C (p.Val862Leu)
c.2635G>C (p.Val879Leu)
c.*476G>C (n.*476G>C)
c.733G>C (p.Val245Leu)
c.2497G>C (p.Val833Leu)
c.2488G>C (p.Val830Leu)
c.-125+23C>G (n.-125+23C>G)
c.-393+23C>G (n.-393+23C>G)
c.-278+23C>G (n.-278+23C>G)
c.745G>C (p.Val249Leu)
2g.165130227C>TCA349042874SCN2A,SCN3Ac.2584G>A (p.Val862Met)
c.2635G>A (p.Val879Met)
c.*476G>A (n.*476G>A)
c.733G>A (p.Val245Met)
c.2497G>A (p.Val833Met)
c.2488G>A (p.Val830Met)
c.-125+23C>T (n.-125+23C>T)
c.-393+23C>T (n.-393+23C>T)
c.-278+23C>T (n.-278+23C>T)
c.745G>A (p.Val249Met)
2g.165130228A>CCA429884045SCN2A,SCN3Ac.2583T>G (p.Ser861=)
c.2634T>G (p.Ser878=)
c.*475T>G (n.*475T>G)
c.732T>G (p.Ser244=)
c.2496T>G (p.Ser832=)
c.2487T>G (p.Ser829=)
c.-125+24A>C (n.-125+24A>C)
c.-393+24A>C (n.-393+24A>C)
c.-278+24A>C (n.-278+24A>C)
c.744T>G (p.Ser248=)
2g.165130228A>GCA429884047SCN2A,SCN3Ac.2583T>C (p.Ser861=)
c.2634T>C (p.Ser878=)
c.*475T>C (n.*475T>C)
c.732T>C (p.Ser244=)
c.2496T>C (p.Ser832=)
c.2487T>C (p.Ser829=)
c.-125+24A>G (n.-125+24A>G)
c.-393+24A>G (n.-393+24A>G)
c.-278+24A>G (n.-278+24A>G)
c.744T>C (p.Ser248=)
2g.165130228A>TCA429884046SCN2A,SCN3Ac.2583T>A (p.Ser861=)
c.2634T>A (p.Ser878=)
c.*475T>A (n.*475T>A)
c.732T>A (p.Ser244=)
c.2496T>A (p.Ser832=)
c.2487T>A (p.Ser829=)
c.-125+24A>T (n.-125+24A>T)
c.-393+24A>T (n.-393+24A>T)
c.-278+24A>T (n.-278+24A>T)
c.744T>A (p.Ser248=)
2g.165130229G>ACA349042875SCN2A,SCN3Ac.2582C>T (p.Ser861Phe)
c.2633C>T (p.Ser878Phe)
c.*474C>T (n.*474C>T)
c.731C>T (p.Ser244Phe)
c.2495C>T (p.Ser832Phe)
c.2486C>T (p.Ser829Phe)
c.-125+25G>A (n.-125+25G>A)
c.-393+25G>A (n.-393+25G>A)
c.-278+25G>A (n.-278+25G>A)
c.743C>T (p.Ser248Phe)
 COSMIC COSMIC
2g.165130229G>CCA349042876SCN2A,SCN3Ac.2582C>G (p.Ser861Cys)
c.2633C>G (p.Ser878Cys)
c.*474C>G (n.*474C>G)
c.731C>G (p.Ser244Cys)
c.2495C>G (p.Ser832Cys)
c.2486C>G (p.Ser829Cys)
c.-125+25G>C (n.-125+25G>C)
c.-393+25G>C (n.-393+25G>C)
c.-278+25G>C (n.-278+25G>C)
c.743C>G (p.Ser248Cys)
2g.165130229G>TCA349042877SCN2A,SCN3Ac.2582C>A (p.Ser861Tyr)
c.2633C>A (p.Ser878Tyr)
c.*474C>A (n.*474C>A)
c.731C>A (p.Ser244Tyr)
c.2495C>A (p.Ser832Tyr)
c.2486C>A (p.Ser829Tyr)
c.-125+25G>T (n.-125+25G>T)
c.-393+25G>T (n.-393+25G>T)
c.-278+25G>T (n.-278+25G>T)
c.743C>A (p.Ser248Tyr)
2g.165130230A>CCA349042878SCN2A,SCN3Ac.2581T>G (p.Ser861Ala)
c.2632T>G (p.Ser878Ala)
c.*473T>G (n.*473T>G)
c.730T>G (p.Ser244Ala)
c.2494T>G (p.Ser832Ala)
c.2485T>G (p.Ser829Ala)
c.-125+26A>C (n.-125+26A>C)
c.-393+26A>C (n.-393+26A>C)
c.-278+26A>C (n.-278+26A>C)
c.742T>G (p.Ser248Ala)
2g.165130230A>GCA349042879SCN2A,SCN3Ac.2581T>C (p.Ser861Pro)
c.2632T>C (p.Ser878Pro)
c.*473T>C (n.*473T>C)
c.730T>C (p.Ser244Pro)
c.2494T>C (p.Ser832Pro)
c.2485T>C (p.Ser829Pro)
c.-125+26A>G (n.-125+26A>G)
c.-393+26A>G (n.-393+26A>G)
c.-278+26A>G (n.-278+26A>G)
c.742T>C (p.Ser248Pro)
2g.165130230A>TCA349042880SCN2A,SCN3Ac.2581T>A (p.Ser861Thr)
c.2632T>A (p.Ser878Thr)
c.*473T>A (n.*473T>A)
c.730T>A (p.Ser244Thr)
c.2494T>A (p.Ser832Thr)
c.2485T>A (p.Ser829Thr)
c.-125+26A>T (n.-125+26A>T)
c.-393+26A>T (n.-393+26A>T)
c.-278+26A>T (n.-278+26A>T)
c.742T>A (p.Ser248Thr)
2g.165130231A>CCA349042881SCN2A,SCN3Ac.2580T>G (p.Asn860Lys)
c.2631T>G (p.Asn877Lys)
c.*472T>G (n.*472T>G)
c.729T>G (p.Asn243Lys)
c.2493T>G (p.Asn831Lys)
c.2484T>G (p.Asn828Lys)
c.-125+27A>C (n.-125+27A>C)
c.-393+27A>C (n.-393+27A>C)
c.-278+27A>C (n.-278+27A>C)
c.741T>G (p.Asn247Lys)
2g.165130231A>GCA429884048SCN2A,SCN3Ac.2580T>C (p.Asn860=)
c.2631T>C (p.Asn877=)
c.*472T>C (n.*472T>C)
c.729T>C (p.Asn243=)
c.2493T>C (p.Asn831=)
c.2484T>C (p.Asn828=)
c.-125+27A>G (n.-125+27A>G)
c.-393+27A>G (n.-393+27A>G)
c.-278+27A>G (n.-278+27A>G)
c.741T>C (p.Asn247=)
2g.165130231A>TCA349042882SCN2A,SCN3Ac.2580T>A (p.Asn860Lys)
c.2631T>A (p.Asn877Lys)
c.*472T>A (n.*472T>A)
c.729T>A (p.Asn243Lys)
c.2493T>A (p.Asn831Lys)
c.2484T>A (p.Asn828Lys)
c.-125+27A>T (n.-125+27A>T)
c.-393+27A>T (n.-393+27A>T)
c.-278+27A>T (n.-278+27A>T)
c.741T>A (p.Asn247Lys)
2g.165130232T>ACA1938918SCN2A,SCN3Ac.2579A>T (p.Asn860Ile)
c.2630A>T (p.Asn877Ile)
c.*471A>T (n.*471A>T)
c.728A>T (p.Asn243Ile)
c.2492A>T (p.Asn831Ile)
c.2483A>T (p.Asn828Ile)
c.-125+28T>A (n.-125+28T>A)
c.-393+28T>A (n.-393+28T>A)
c.-278+28T>A (n.-278+28T>A)
c.740A>T (p.Asn247Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165130232T>CCA349042883SCN2A,SCN3Ac.2579A>G (p.Asn860Ser)
c.2630A>G (p.Asn877Ser)
c.*471A>G (n.*471A>G)
c.728A>G (p.Asn243Ser)
c.2492A>G (p.Asn831Ser)
c.2483A>G (p.Asn828Ser)
c.-125+28T>C (n.-125+28T>C)
c.-393+28T>C (n.-393+28T>C)
c.-278+28T>C (n.-278+28T>C)
c.740A>G (p.Asn247Ser)
 COSMIC COSMIC
2g.165130232T>GCA349042884SCN2A,SCN3Ac.2579A>C (p.Asn860Thr)
c.2630A>C (p.Asn877Thr)
c.*471A>C (n.*471A>C)
c.728A>C (p.Asn243Thr)
c.2492A>C (p.Asn831Thr)
c.2483A>C (p.Asn828Thr)
c.-125+28T>G (n.-125+28T>G)
c.-393+28T>G (n.-393+28T>G)
c.-278+28T>G (n.-278+28T>G)
c.740A>C (p.Asn247Thr)
2g.165130232T=CA1304452147SCN2A,SCN3Ac.2579A= (p.Asn860=)
c.2630A= (p.Asn877=)
c.*471A= (n.*471A=)
c.728A= (p.Asn243=)
c.2492A= (p.Asn831=)
c.2483A= (p.Asn828=)
c.-125+28T= (n.-125+28T=)
c.-393+28T= (n.-393+28T=)
c.-278+28T= (n.-278+28T=)
c.740A= (p.Asn247=)
2g.165130233T>ACA349042885SCN2A,SCN3Ac.2578A>T (p.Asn860Tyr)
c.2629A>T (p.Asn877Tyr)
c.*470A>T (n.*470A>T)
c.727A>T (p.Asn243Tyr)
c.2491A>T (p.Asn831Tyr)
c.2482A>T (p.Asn828Tyr)
c.-125+29T>A (n.-125+29T>A)
c.-393+29T>A (n.-393+29T>A)
c.-278+29T>A (n.-278+29T>A)
c.739A>T (p.Asn247Tyr)
2g.165130233T>CCA349042886SCN2A,SCN3Ac.2578A>G (p.Asn860Asp)
c.2629A>G (p.Asn877Asp)
c.*470A>G (n.*470A>G)
c.727A>G (p.Asn243Asp)
c.2491A>G (p.Asn831Asp)
c.2482A>G (p.Asn828Asp)
c.-125+29T>C (n.-125+29T>C)
c.-393+29T>C (n.-393+29T>C)
c.-278+29T>C (n.-278+29T>C)
c.739A>G (p.Asn247Asp)
 COSMIC COSMIC
2g.165130233T>GCA349042887SCN2A,SCN3Ac.2578A>C (p.Asn860His)
c.2629A>C (p.Asn877His)
c.*470A>C (n.*470A>C)
c.727A>C (p.Asn243His)
c.2491A>C (p.Asn831His)
c.2482A>C (p.Asn828His)
c.-125+29T>G (n.-125+29T>G)
c.-393+29T>G (n.-393+29T>G)
c.-278+29T>G (n.-278+29T>G)
c.739A>C (p.Asn247His)
2g.165130234G>ACA429884049SCN2A,SCN3Ac.2577C>T (p.Gly859=)
c.2628C>T (p.Gly876=)
c.*469C>T (n.*469C>T)
c.726C>T (p.Gly242=)
c.2490C>T (p.Gly830=)
c.2481C>T (p.Gly827=)
c.-125+30G>A (n.-125+30G>A)
c.-393+30G>A (n.-393+30G>A)
c.-278+30G>A (n.-278+30G>A)
c.738C>T (p.Gly246=)
2g.165130234G>CCA429884050SCN2A,SCN3Ac.2577C>G (p.Gly859=)
c.2628C>G (p.Gly876=)
c.*469C>G (n.*469C>G)
c.726C>G (p.Gly242=)
c.2490C>G (p.Gly830=)
c.2481C>G (p.Gly827=)
c.-125+30G>C (n.-125+30G>C)
c.-393+30G>C (n.-393+30G>C)
c.-278+30G>C (n.-278+30G>C)
c.738C>G (p.Gly246=)
2g.165130234G>TCA429884051SCN2A,SCN3Ac.2577C>A (p.Gly859=)
c.2628C>A (p.Gly876=)
c.*469C>A (n.*469C>A)
c.726C>A (p.Gly242=)
c.2490C>A (p.Gly830=)
c.2481C>A (p.Gly827=)
c.-125+30G>T (n.-125+30G>T)
c.-393+30G>T (n.-393+30G>T)
c.-278+30G>T (n.-278+30G>T)
c.738C>A (p.Gly246=)
2g.165130235C>ACA349042888SCN2A,SCN3Ac.2576G>T (p.Gly859Val)
c.2627G>T (p.Gly876Val)
c.*468G>T (n.*468G>T)
c.725G>T (p.Gly242Val)
c.2489G>T (p.Gly830Val)
c.2480G>T (p.Gly827Val)
c.-125+31C>A (n.-125+31C>A)
c.-393+31C>A (n.-393+31C>A)
c.-278+31C>A (n.-278+31C>A)
c.737G>T (p.Gly246Val)
2g.165130235C>GCA349042889SCN2A,SCN3Ac.2576G>C (p.Gly859Ala)
c.2627G>C (p.Gly876Ala)
c.*468G>C (n.*468G>C)
c.725G>C (p.Gly242Ala)
c.2489G>C (p.Gly830Ala)
c.2480G>C (p.Gly827Ala)
c.-125+31C>G (n.-125+31C>G)
c.-393+31C>G (n.-393+31C>G)
c.-278+31C>G (n.-278+31C>G)
c.737G>C (p.Gly246Ala)
2g.165130235C>TCA349042890SCN2A,SCN3Ac.2576G>A (p.Gly859Asp)
c.2627G>A (p.Gly876Asp)
c.*468G>A (n.*468G>A)
c.725G>A (p.Gly242Asp)
c.2489G>A (p.Gly830Asp)
c.2480G>A (p.Gly827Asp)
c.-125+31C>T (n.-125+31C>T)
c.-393+31C>T (n.-393+31C>T)
c.-278+31C>T (n.-278+31C>T)
c.737G>A (p.Gly246Asp)
2g.165130236C>ACA349042891SCN2A,SCN3Ac.2575G>T (p.Gly859Cys)
c.2626G>T (p.Gly876Cys)
c.*467G>T (n.*467G>T)
c.724G>T (p.Gly242Cys)
c.2488G>T (p.Gly830Cys)
c.2479G>T (p.Gly827Cys)
c.-125+32C>A (n.-125+32C>A)
c.-393+32C>A (n.-393+32C>A)
c.-278+32C>A (n.-278+32C>A)
c.736G>T (p.Gly246Cys)
2g.165130236C=CA1304452148SCN2A,SCN3Ac.2575G= (p.Gly859=)
c.2626G= (p.Gly876=)
c.*467G= (n.*467G=)
c.724G= (p.Gly242=)
c.2488G= (p.Gly830=)
c.2479G= (p.Gly827=)
c.-125+32C= (n.-125+32C=)
c.-393+32C= (n.-393+32C=)
c.-278+32C= (n.-278+32C=)
c.736G= (p.Gly246=)
2g.165130236C>GCA349042892SCN2A,SCN3Ac.2575G>C (p.Gly859Arg)
c.2626G>C (p.Gly876Arg)
c.*467G>C (n.*467G>C)
c.724G>C (p.Gly242Arg)
c.2488G>C (p.Gly830Arg)
c.2479G>C (p.Gly827Arg)
c.-125+32C>G (n.-125+32C>G)
c.-393+32C>G (n.-393+32C>G)
c.-278+32C>G (n.-278+32C>G)
c.736G>C (p.Gly246Arg)
2g.165130236C>TCA349042893SCN2A,SCN3Ac.2575G>A (p.Gly859Ser)
c.2626G>A (p.Gly876Ser)
c.*467G>A (n.*467G>A)
c.724G>A (p.Gly242Ser)
c.2488G>A (p.Gly830Ser)
c.2479G>A (p.Gly827Ser)
c.-125+32C>T (n.-125+32C>T)
c.-393+32C>T (n.-393+32C>T)
c.-278+32C>T (n.-278+32C>T)
c.736G>A (p.Gly246Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.165130237A>CCA349042894SCN2A,SCN3Ac.2574T>G (p.Ile858Met)
c.2625T>G (p.Ile875Met)
c.*466T>G (n.*466T>G)
c.723T>G (p.Ile241Met)
c.2487T>G (p.Ile829Met)
c.2478T>G (p.Ile826Met)
c.-125+33A>C (n.-125+33A>C)
c.-393+33A>C (n.-393+33A>C)
c.-278+33A>C (n.-278+33A>C)
c.735T>G (p.Ile245Met)
2g.165130237A>GCA429884053SCN2A,SCN3Ac.2574T>C (p.Ile858=)
c.2625T>C (p.Ile875=)
c.*466T>C (n.*466T>C)
c.723T>C (p.Ile241=)
c.2487T>C (p.Ile829=)
c.2478T>C (p.Ile826=)
c.-125+33A>G (n.-125+33A>G)
c.-393+33A>G (n.-393+33A>G)
c.-278+33A>G (n.-278+33A>G)
c.735T>C (p.Ile245=)
2g.165130237A>TCA429884052SCN2A,SCN3Ac.2574T>A (p.Ile858=)
c.2625T>A (p.Ile875=)
c.*466T>A (n.*466T>A)
c.723T>A (p.Ile241=)
c.2487T>A (p.Ile829=)
c.2478T>A (p.Ile826=)
c.-125+33A>T (n.-125+33A>T)
c.-393+33A>T (n.-393+33A>T)
c.-278+33A>T (n.-278+33A>T)
c.735T>A (p.Ile245=)
 COSMIC COSMIC
2g.165130238A=CA1304452149SCN2A,SCN3Ac.2573T= (p.Ile858=)
c.2624T= (p.Ile875=)
c.*465T= (n.*465T=)
c.722T= (p.Ile241=)
c.2486T= (p.Ile829=)
c.2477T= (p.Ile826=)
c.-125+34A= (n.-125+34A=)
c.-393+34A= (n.-393+34A=)
c.-278+34A= (n.-278+34A=)
c.734T= (p.Ile245=)
2g.165130238A>CCA349042895SCN2A,SCN3Ac.2573T>G (p.Ile858Ser)
c.2624T>G (p.Ile875Ser)
c.*465T>G (n.*465T>G)
c.722T>G (p.Ile241Ser)
c.2486T>G (p.Ile829Ser)
c.2477T>G (p.Ile826Ser)
c.-125+34A>C (n.-125+34A>C)
c.-393+34A>C (n.-393+34A>C)
c.-278+34A>C (n.-278+34A>C)
c.734T>G (p.Ile245Ser)
2g.165130238A>GCA16043377SCN2A,SCN3Ac.2573T>C (p.Ile858Thr)
c.2624T>C (p.Ile875Thr)
c.*465T>C (n.*465T>C)
c.722T>C (p.Ile241Thr)
c.2486T>C (p.Ile829Thr)
c.2477T>C (p.Ile826Thr)
c.-125+34A>G (n.-125+34A>G)
c.-393+34A>G (n.-393+34A>G)
c.-278+34A>G (n.-278+34A>G)
c.734T>C (p.Ile245Thr)
 ClinVar dbSNP COSMIC COSMIC
2g.165130238A>TCA349042896SCN2A,SCN3Ac.2573T>A (p.Ile858Asn)
c.2624T>A (p.Ile875Asn)
c.*465T>A (n.*465T>A)
c.722T>A (p.Ile241Asn)
c.2486T>A (p.Ile829Asn)
c.2477T>A (p.Ile826Asn)
c.-125+34A>T (n.-125+34A>T)
c.-393+34A>T (n.-393+34A>T)
c.-278+34A>T (n.-278+34A>T)
c.734T>A (p.Ile245Asn)

Number of alleles fetched