Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.165131266G>ACA349043083SCN2A,SCN3Ac.2492C>T (p.Ser831Phe)
c.2543C>T (p.Ser848Phe)
c.*384C>T (n.*384C>T)
c.641C>T (p.Ser214Phe)
c.2405C>T (p.Ser802Phe)
c.2396C>T (p.Ser799Phe)
c.-125+1062G>A (n.-125+1062G>A)
c.-393+1062G>A (n.-393+1062G>A)
c.-278+1062G>A (n.-278+1062G>A)
c.653C>T (p.Ser218Phe)
2g.165131266G>CCA349043084SCN2A,SCN3Ac.2492C>G (p.Ser831Cys)
c.2543C>G (p.Ser848Cys)
c.*384C>G (n.*384C>G)
c.641C>G (p.Ser214Cys)
c.2405C>G (p.Ser802Cys)
c.2396C>G (p.Ser799Cys)
c.-125+1062G>C (n.-125+1062G>C)
c.-393+1062G>C (n.-393+1062G>C)
c.-278+1062G>C (n.-278+1062G>C)
c.653C>G (p.Ser218Cys)
2g.165131266G>TCA349043085SCN2A,SCN3Ac.2492C>A (p.Ser831Tyr)
c.2543C>A (p.Ser848Tyr)
c.*384C>A (n.*384C>A)
c.641C>A (p.Ser214Tyr)
c.2405C>A (p.Ser802Tyr)
c.2396C>A (p.Ser799Tyr)
c.-125+1062G>T (n.-125+1062G>T)
c.-393+1062G>T (n.-393+1062G>T)
c.-278+1062G>T (n.-278+1062G>T)
c.653C>A (p.Ser218Tyr)
2g.165131267A=CA1304452581SCN2A,SCN3Ac.2491T= (p.Ser831=)
c.2542T= (p.Ser848=)
c.*383T= (n.*383T=)
c.640T= (p.Ser214=)
c.2404T= (p.Ser802=)
c.2395T= (p.Ser799=)
c.-125+1063A= (n.-125+1063A=)
c.-393+1063A= (n.-393+1063A=)
c.-278+1063A= (n.-278+1063A=)
c.652T= (p.Ser218=)
2g.165131267A>CCA349043086SCN2A,SCN3Ac.2491T>G (p.Ser831Ala)
c.2542T>G (p.Ser848Ala)
c.*383T>G (n.*383T>G)
c.640T>G (p.Ser214Ala)
c.2404T>G (p.Ser802Ala)
c.2395T>G (p.Ser799Ala)
c.-125+1063A>C (n.-125+1063A>C)
c.-393+1063A>C (n.-393+1063A>C)
c.-278+1063A>C (n.-278+1063A>C)
c.652T>G (p.Ser218Ala)
2g.165131267A>GCA349043087SCN2A,SCN3Ac.2491T>C (p.Ser831Pro)
c.2542T>C (p.Ser848Pro)
c.*383T>C (n.*383T>C)
c.640T>C (p.Ser214Pro)
c.2404T>C (p.Ser802Pro)
c.2395T>C (p.Ser799Pro)
c.-125+1063A>G (n.-125+1063A>G)
c.-393+1063A>G (n.-393+1063A>G)
c.-278+1063A>G (n.-278+1063A>G)
c.652T>C (p.Ser218Pro)
 gnomAD v4
2g.165131267A>TCA349043088SCN2A,SCN3Ac.2491T>A (p.Ser831Thr)
c.2542T>A (p.Ser848Thr)
c.*383T>A (n.*383T>A)
c.640T>A (p.Ser214Thr)
c.2404T>A (p.Ser802Thr)
c.2395T>A (p.Ser799Thr)
c.-125+1063A>T (n.-125+1063A>T)
c.-393+1063A>T (n.-393+1063A>T)
c.-278+1063A>T (n.-278+1063A>T)
c.652T>A (p.Ser218Thr)
 dbSNP
2g.165131268C>ACA349043090SCN2A,SCN3Ac.2490G>T (p.Leu830Phe)
c.2541G>T (p.Leu847Phe)
c.*382G>T (n.*382G>T)
c.639G>T (p.Leu213Phe)
c.2403G>T (p.Leu801Phe)
c.2394G>T (p.Leu798Phe)
c.-125+1064C>A (n.-125+1064C>A)
c.-393+1064C>A (n.-393+1064C>A)
c.-278+1064C>A (n.-278+1064C>A)
c.651G>T (p.Leu217Phe)
2g.165131268C=CA1304452582SCN2A,SCN3Ac.2490G= (p.Leu830=)
c.2541G= (p.Leu847=)
c.*382G= (n.*382G=)
c.639G= (p.Leu213=)
c.2403G= (p.Leu801=)
c.2394G= (p.Leu798=)
c.-125+1064C= (n.-125+1064C=)
c.-393+1064C= (n.-393+1064C=)
c.-278+1064C= (n.-278+1064C=)
c.651G= (p.Leu217=)
2g.165131268C>GCA349043089SCN2A,SCN3Ac.2490G>C (p.Leu830Phe)
c.2541G>C (p.Leu847Phe)
c.*382G>C (n.*382G>C)
c.639G>C (p.Leu213Phe)
c.2403G>C (p.Leu801Phe)
c.2394G>C (p.Leu798Phe)
c.-125+1064C>G (n.-125+1064C>G)
c.-393+1064C>G (n.-393+1064C>G)
c.-278+1064C>G (n.-278+1064C>G)
c.651G>C (p.Leu217Phe)
2g.165131268C>TCA1938944SCN2A,SCN3Ac.2490G>A (p.Leu830=)
c.2541G>A (p.Leu847=)
c.*382G>A (n.*382G>A)
c.639G>A (p.Leu213=)
c.2403G>A (p.Leu801=)
c.2394G>A (p.Leu798=)
c.-125+1064C>T (n.-125+1064C>T)
c.-393+1064C>T (n.-393+1064C>T)
c.-278+1064C>T (n.-278+1064C>T)
c.651G>A (p.Leu217=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.165131269A=CA1304452583SCN2A,SCN3Ac.2489T= (p.Leu830=)
c.2540T= (p.Leu847=)
c.*381T= (n.*381T=)
c.638T= (p.Leu213=)
c.2402T= (p.Leu801=)
c.2393T= (p.Leu798=)
c.-125+1065A= (n.-125+1065A=)
c.-393+1065A= (n.-393+1065A=)
c.-278+1065A= (n.-278+1065A=)
c.650T= (p.Leu217=)
2g.165131269A>CCA349043093SCN2A,SCN3Ac.2489T>G (p.Leu830Trp)
c.2540T>G (p.Leu847Trp)
c.*381T>G (n.*381T>G)
c.638T>G (p.Leu213Trp)
c.2402T>G (p.Leu801Trp)
c.2393T>G (p.Leu798Trp)
c.-125+1065A>C (n.-125+1065A>C)
c.-393+1065A>C (n.-393+1065A>C)
c.-278+1065A>C (n.-278+1065A>C)
c.650T>G (p.Leu217Trp)
2g.165131269A>GCA349043091SCN2A,SCN3Ac.2489T>C (p.Leu830Ser)
c.2540T>C (p.Leu847Ser)
c.*381T>C (n.*381T>C)
c.638T>C (p.Leu213Ser)
c.2402T>C (p.Leu801Ser)
c.2393T>C (p.Leu798Ser)
c.-125+1065A>G (n.-125+1065A>G)
c.-393+1065A>G (n.-393+1065A>G)
c.-278+1065A>G (n.-278+1065A>G)
c.650T>C (p.Leu217Ser)
 gnomAD v4
2g.165131269A>TCA349043092SCN2A,SCN3Ac.2489T>A (p.Leu830Ter)
c.2540T>A (p.Leu847Ter)
c.*381T>A (n.*381T>A)
c.638T>A (p.Leu213Ter)
c.2402T>A (p.Leu801Ter)
c.2393T>A (p.Leu798Ter)
c.-125+1065A>T (n.-125+1065A>T)
c.-393+1065A>T (n.-393+1065A>T)
c.-278+1065A>T (n.-278+1065A>T)
c.650T>A (p.Leu217Ter)
 dbSNP
2g.165131270A=CA1304452584SCN2A,SCN3Ac.2488T= (p.Leu830=)
c.2539T= (p.Leu847=)
c.*380T= (n.*380T=)
c.637T= (p.Leu213=)
c.2401T= (p.Leu801=)
c.2392T= (p.Leu798=)
c.-125+1066A= (n.-125+1066A=)
c.-393+1066A= (n.-393+1066A=)
c.-278+1066A= (n.-278+1066A=)
c.649T= (p.Leu217=)
2g.165131270A>CCA349043094SCN2A,SCN3Ac.2488T>G (p.Leu830Val)
c.2539T>G (p.Leu847Val)
c.*380T>G (n.*380T>G)
c.637T>G (p.Leu213Val)
c.2401T>G (p.Leu801Val)
c.2392T>G (p.Leu798Val)
c.-125+1066A>C (n.-125+1066A>C)
c.-393+1066A>C (n.-393+1066A>C)
c.-278+1066A>C (n.-278+1066A>C)
c.649T>G (p.Leu217Val)
2g.165131270A>GCA429884117SCN2A,SCN3Ac.2488T>C (p.Leu830=)
c.2539T>C (p.Leu847=)
c.*380T>C (n.*380T>C)
c.637T>C (p.Leu213=)
c.2401T>C (p.Leu801=)
c.2392T>C (p.Leu798=)
c.-125+1066A>G (n.-125+1066A>G)
c.-393+1066A>G (n.-393+1066A>G)
c.-278+1066A>G (n.-278+1066A>G)
c.649T>C (p.Leu217=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.165131270A>TCA349043095SCN2A,SCN3Ac.2488T>A (p.Leu830Met)
c.2539T>A (p.Leu847Met)
c.*380T>A (n.*380T>A)
c.637T>A (p.Leu213Met)
c.2401T>A (p.Leu801Met)
c.2392T>A (p.Leu798Met)
c.-125+1066A>T (n.-125+1066A>T)
c.-393+1066A>T (n.-393+1066A>T)
c.-278+1066A>T (n.-278+1066A>T)
c.649T>A (p.Leu217Met)
2g.165131271T>ACA429884118SCN2A,SCN3Ac.2487A>T (p.Gly829=)
c.2538A>T (p.Gly846=)
c.*379A>T (n.*379A>T)
c.636A>T (p.Gly212=)
c.2400A>T (p.Gly800=)
c.2391A>T (p.Gly797=)
c.-125+1067T>A (n.-125+1067T>A)
c.-393+1067T>A (n.-393+1067T>A)
c.-278+1067T>A (n.-278+1067T>A)
c.648A>T (p.Gly216=)
2g.165131271T>CCA429884119SCN2A,SCN3Ac.2487A>G (p.Gly829=)
c.2538A>G (p.Gly846=)
c.*379A>G (n.*379A>G)
c.636A>G (p.Gly212=)
c.2400A>G (p.Gly800=)
c.2391A>G (p.Gly797=)
c.-125+1067T>C (n.-125+1067T>C)
c.-393+1067T>C (n.-393+1067T>C)
c.-278+1067T>C (n.-278+1067T>C)
c.648A>G (p.Gly216=)
 gnomAD v4
2g.165131271T>GCA429884120SCN2A,SCN3Ac.2487A>C (p.Gly829=)
c.2538A>C (p.Gly846=)
c.*379A>C (n.*379A>C)
c.636A>C (p.Gly212=)
c.2400A>C (p.Gly800=)
c.2391A>C (p.Gly797=)
c.-125+1067T>G (n.-125+1067T>G)
c.-393+1067T>G (n.-393+1067T>G)
c.-278+1067T>G (n.-278+1067T>G)
c.648A>C (p.Gly216=)
2g.165131272C>ACA349043096SCN2A,SCN3Ac.2486G>T (p.Gly829Val)
c.2537G>T (p.Gly846Val)
c.*378G>T (n.*378G>T)
c.635G>T (p.Gly212Val)
c.2399G>T (p.Gly800Val)
c.2390G>T (p.Gly797Val)
c.-125+1068C>A (n.-125+1068C>A)
c.-393+1068C>A (n.-393+1068C>A)
c.-278+1068C>A (n.-278+1068C>A)
c.647G>T (p.Gly216Val)
 gnomAD v4 COSMIC COSMIC
2g.165131272C>GCA349043097SCN2A,SCN3Ac.2486G>C (p.Gly829Ala)
c.2537G>C (p.Gly846Ala)
c.*378G>C (n.*378G>C)
c.635G>C (p.Gly212Ala)
c.2399G>C (p.Gly800Ala)
c.2390G>C (p.Gly797Ala)
c.-125+1068C>G (n.-125+1068C>G)
c.-393+1068C>G (n.-393+1068C>G)
c.-278+1068C>G (n.-278+1068C>G)
c.647G>C (p.Gly216Ala)
2g.165131272C>TCA349043098SCN2A,SCN3Ac.2486G>A (p.Gly829Glu)
c.2537G>A (p.Gly846Glu)
c.*378G>A (n.*378G>A)
c.635G>A (p.Gly212Glu)
c.2399G>A (p.Gly800Glu)
c.2390G>A (p.Gly797Glu)
c.-125+1068C>T (n.-125+1068C>T)
c.-393+1068C>T (n.-393+1068C>T)
c.-278+1068C>T (n.-278+1068C>T)
c.647G>A (p.Gly216Glu)
2g.165131273C>ACA349043099SCN2A,SCN3Ac.2485G>T (p.Gly829Ter)
c.2536G>T (p.Gly846Ter)
c.*377G>T (n.*377G>T)
c.634G>T (p.Gly212Ter)
c.2398G>T (p.Gly800Ter)
c.2389G>T (p.Gly797Ter)
c.-125+1069C>A (n.-125+1069C>A)
c.-393+1069C>A (n.-393+1069C>A)
c.-278+1069C>A (n.-278+1069C>A)
c.646G>T (p.Gly216Ter)
 dbSNP gnomAD v4
2g.165131273C=CA1304452585SCN2A,SCN3Ac.2485G= (p.Gly829=)
c.2536G= (p.Gly846=)
c.*377G= (n.*377G=)
c.634G= (p.Gly212=)
c.2398G= (p.Gly800=)
c.2389G= (p.Gly797=)
c.-125+1069C= (n.-125+1069C=)
c.-393+1069C= (n.-393+1069C=)
c.-278+1069C= (n.-278+1069C=)
c.646G= (p.Gly216=)
2g.165131273C>GCA349043100SCN2A,SCN3Ac.2485G>C (p.Gly829Arg)
c.2536G>C (p.Gly846Arg)
c.*377G>C (n.*377G>C)
c.634G>C (p.Gly212Arg)
c.2398G>C (p.Gly800Arg)
c.2389G>C (p.Gly797Arg)
c.-125+1069C>G (n.-125+1069C>G)
c.-393+1069C>G (n.-393+1069C>G)
c.-278+1069C>G (n.-278+1069C>G)
c.646G>C (p.Gly216Arg)
2g.165131273C>TCA349043101SCN2A,SCN3Ac.2485G>A (p.Gly829Arg)
c.2536G>A (p.Gly846Arg)
c.*377G>A (n.*377G>A)
c.634G>A (p.Gly212Arg)
c.2398G>A (p.Gly800Arg)
c.2389G>A (p.Gly797Arg)
c.-125+1069C>T (n.-125+1069C>T)
c.-393+1069C>T (n.-393+1069C>T)
c.-278+1069C>T (n.-278+1069C>T)
c.646G>A (p.Gly216Arg)
2g.165131274C>ACA349043102SCN2A,SCN3Ac.2484G>T (p.Glu828Asp)
c.2535G>T (p.Glu845Asp)
c.*376G>T (n.*376G>T)
c.633G>T (p.Glu211Asp)
c.2397G>T (p.Glu799Asp)
c.2388G>T (p.Glu796Asp)
c.-125+1070C>A (n.-125+1070C>A)
c.-393+1070C>A (n.-393+1070C>A)
c.-278+1070C>A (n.-278+1070C>A)
c.645G>T (p.Glu215Asp)
 gnomAD v4
2g.165131274C>GCA349043103SCN2A,SCN3Ac.2484G>C (p.Glu828Asp)
c.2535G>C (p.Glu845Asp)
c.*376G>C (n.*376G>C)
c.633G>C (p.Glu211Asp)
c.2397G>C (p.Glu799Asp)
c.2388G>C (p.Glu796Asp)
c.-125+1070C>G (n.-125+1070C>G)
c.-393+1070C>G (n.-393+1070C>G)
c.-278+1070C>G (n.-278+1070C>G)
c.645G>C (p.Glu215Asp)
2g.165131274C>TCA429884121SCN2A,SCN3Ac.2484G>A (p.Glu828=)
c.2535G>A (p.Glu845=)
c.*376G>A (n.*376G>A)
c.633G>A (p.Glu211=)
c.2397G>A (p.Glu799=)
c.2388G>A (p.Glu796=)
c.-125+1070C>T (n.-125+1070C>T)
c.-393+1070C>T (n.-393+1070C>T)
c.-278+1070C>T (n.-278+1070C>T)
c.645G>A (p.Glu215=)
 gnomAD v4
2g.165131275T>ACA349043105SCN2A,SCN3Ac.2483A>T (p.Glu828Val)
c.2534A>T (p.Glu845Val)
c.*375A>T (n.*375A>T)
c.632A>T (p.Glu211Val)
c.2396A>T (p.Glu799Val)
c.2387A>T (p.Glu796Val)
c.-125+1071T>A (n.-125+1071T>A)
c.-393+1071T>A (n.-393+1071T>A)
c.-278+1071T>A (n.-278+1071T>A)
c.644A>T (p.Glu215Val)
2g.165131275T>CCA349043106SCN2A,SCN3Ac.2483A>G (p.Glu828Gly)
c.2534A>G (p.Glu845Gly)
c.*375A>G (n.*375A>G)
c.632A>G (p.Glu211Gly)
c.2396A>G (p.Glu799Gly)
c.2387A>G (p.Glu796Gly)
c.-125+1071T>C (n.-125+1071T>C)
c.-393+1071T>C (n.-393+1071T>C)
c.-278+1071T>C (n.-278+1071T>C)
c.644A>G (p.Glu215Gly)
 gnomAD v4
2g.165131275T>GCA349043104SCN2A,SCN3Ac.2483A>C (p.Glu828Ala)
c.2534A>C (p.Glu845Ala)
c.*375A>C (n.*375A>C)
c.632A>C (p.Glu211Ala)
c.2396A>C (p.Glu799Ala)
c.2387A>C (p.Glu796Ala)
c.-125+1071T>G (n.-125+1071T>G)
c.-393+1071T>G (n.-393+1071T>G)
c.-278+1071T>G (n.-278+1071T>G)
c.644A>C (p.Glu215Ala)
2g.165131276C>ACA349043107SCN2A,SCN3Ac.2482G>T (p.Glu828Ter)
c.2533G>T (p.Glu845Ter)
c.*374G>T (n.*374G>T)
c.631G>T (p.Glu211Ter)
c.2395G>T (p.Glu799Ter)
c.2386G>T (p.Glu796Ter)
c.-125+1072C>A (n.-125+1072C>A)
c.-393+1072C>A (n.-393+1072C>A)
c.-278+1072C>A (n.-278+1072C>A)
c.643G>T (p.Glu215Ter)
 dbSNP gnomAD v4
2g.165131276C=CA1304452586SCN2A,SCN3Ac.2482G= (p.Glu828=)
c.2533G= (p.Glu845=)
c.*374G= (n.*374G=)
c.631G= (p.Glu211=)
c.2395G= (p.Glu799=)
c.2386G= (p.Glu796=)
c.-125+1072C= (n.-125+1072C=)
c.-393+1072C= (n.-393+1072C=)
c.-278+1072C= (n.-278+1072C=)
c.643G= (p.Glu215=)
2g.165131276C>GCA349043108SCN2A,SCN3Ac.2482G>C (p.Glu828Gln)
c.2533G>C (p.Glu845Gln)
c.*374G>C (n.*374G>C)
c.631G>C (p.Glu211Gln)
c.2395G>C (p.Glu799Gln)
c.2386G>C (p.Glu796Gln)
c.-125+1072C>G (n.-125+1072C>G)
c.-393+1072C>G (n.-393+1072C>G)
c.-278+1072C>G (n.-278+1072C>G)
c.643G>C (p.Glu215Gln)
2g.165131276C>TCA349043109SCN2A,SCN3Ac.2482G>A (p.Glu828Lys)
c.2533G>A (p.Glu845Lys)
c.*374G>A (n.*374G>A)
c.631G>A (p.Glu211Lys)
c.2395G>A (p.Glu799Lys)
c.2386G>A (p.Glu796Lys)
c.-125+1072C>T (n.-125+1072C>T)
c.-393+1072C>T (n.-393+1072C>T)
c.-278+1072C>T (n.-278+1072C>T)
c.643G>A (p.Glu215Lys)
 gnomAD v4
2g.165131277C>ACA429884122SCN2A,SCN3Ac.2481G>T (p.Val827=)
c.2532G>T (p.Val844=)
c.*373G>T (n.*373G>T)
c.630G>T (p.Val210=)
c.2394G>T (p.Val798=)
c.2385G>T (p.Val795=)
c.-125+1073C>A (n.-125+1073C>A)
c.-393+1073C>A (n.-393+1073C>A)
c.-278+1073C>A (n.-278+1073C>A)
c.642G>T (p.Val214=)
 COSMIC COSMIC
2g.165131277C=CA1304452587SCN2A,SCN3Ac.2481G= (p.Val827=)
c.2532G= (p.Val844=)
c.*373G= (n.*373G=)
c.630G= (p.Val210=)
c.2394G= (p.Val798=)
c.2385G= (p.Val795=)
c.-125+1073C= (n.-125+1073C=)
c.-393+1073C= (n.-393+1073C=)
c.-278+1073C= (n.-278+1073C=)
c.642G= (p.Val214=)
2g.165131277C>GCA429884123SCN2A,SCN3Ac.2481G>C (p.Val827=)
c.2532G>C (p.Val844=)
c.*373G>C (n.*373G>C)
c.630G>C (p.Val210=)
c.2394G>C (p.Val798=)
c.2385G>C (p.Val795=)
c.-125+1073C>G (n.-125+1073C>G)
c.-393+1073C>G (n.-393+1073C>G)
c.-278+1073C>G (n.-278+1073C>G)
c.642G>C (p.Val214=)
2g.165131277C>TCA429884124SCN2A,SCN3Ac.2481G>A (p.Val827=)
c.2532G>A (p.Val844=)
c.*373G>A (n.*373G>A)
c.630G>A (p.Val210=)
c.2394G>A (p.Val798=)
c.2385G>A (p.Val795=)
c.-125+1073C>T (n.-125+1073C>T)
c.-393+1073C>T (n.-393+1073C>T)
c.-278+1073C>T (n.-278+1073C>T)
c.642G>A (p.Val214=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.165131278A>CCA349043110SCN2A,SCN3Ac.2480T>G (p.Val827Gly)
c.2531T>G (p.Val844Gly)
c.*372T>G (n.*372T>G)
c.629T>G (p.Val210Gly)
c.2393T>G (p.Val798Gly)
c.2384T>G (p.Val795Gly)
c.-125+1074A>C (n.-125+1074A>C)
c.-393+1074A>C (n.-393+1074A>C)
c.-278+1074A>C (n.-278+1074A>C)
c.641T>G (p.Val214Gly)
2g.165131278A>GCA349043111SCN2A,SCN3Ac.2480T>C (p.Val827Ala)
c.2531T>C (p.Val844Ala)
c.*372T>C (n.*372T>C)
c.629T>C (p.Val210Ala)
c.2393T>C (p.Val798Ala)
c.2384T>C (p.Val795Ala)
c.-125+1074A>G (n.-125+1074A>G)
c.-393+1074A>G (n.-393+1074A>G)
c.-278+1074A>G (n.-278+1074A>G)
c.641T>C (p.Val214Ala)
2g.165131278A>TCA349043112SCN2A,SCN3Ac.2480T>A (p.Val827Glu)
c.2531T>A (p.Val844Glu)
c.*372T>A (n.*372T>A)
c.629T>A (p.Val210Glu)
c.2393T>A (p.Val798Glu)
c.2384T>A (p.Val795Glu)
c.-125+1074A>T (n.-125+1074A>T)
c.-393+1074A>T (n.-393+1074A>T)
c.-278+1074A>T (n.-278+1074A>T)
c.641T>A (p.Val214Glu)
2g.165131279C>ACA349043113SCN2A,SCN3Ac.2479G>T (p.Val827Leu)
c.2530G>T (p.Val844Leu)
c.*371G>T (n.*371G>T)
c.628G>T (p.Val210Leu)
c.2392G>T (p.Val798Leu)
c.2383G>T (p.Val795Leu)
c.-125+1075C>A (n.-125+1075C>A)
c.-393+1075C>A (n.-393+1075C>A)
c.-278+1075C>A (n.-278+1075C>A)
c.640G>T (p.Val214Leu)
 gnomAD v4
2g.165131279C=CA1304452588SCN2A,SCN3Ac.2479G= (p.Val827=)
c.2530G= (p.Val844=)
c.*371G= (n.*371G=)
c.628G= (p.Val210=)
c.2392G= (p.Val798=)
c.2383G= (p.Val795=)
c.-125+1075C= (n.-125+1075C=)
c.-393+1075C= (n.-393+1075C=)
c.-278+1075C= (n.-278+1075C=)
c.640G= (p.Val214=)
2g.165131279C>GCA349043115SCN2A,SCN3Ac.2479G>C (p.Val827Leu)
c.2530G>C (p.Val844Leu)
c.*371G>C (n.*371G>C)
c.628G>C (p.Val210Leu)
c.2392G>C (p.Val798Leu)
c.2383G>C (p.Val795Leu)
c.-125+1075C>G (n.-125+1075C>G)
c.-393+1075C>G (n.-393+1075C>G)
c.-278+1075C>G (n.-278+1075C>G)
c.640G>C (p.Val214Leu)
2g.165131279C>TCA349043114SCN2A,SCN3Ac.2479G>A (p.Val827Met)
c.2530G>A (p.Val844Met)
c.*371G>A (n.*371G>A)
c.628G>A (p.Val210Met)
c.2392G>A (p.Val798Met)
c.2383G>A (p.Val795Met)
c.-125+1075C>T (n.-125+1075C>T)
c.-393+1075C>T (n.-393+1075C>T)
c.-278+1075C>T (n.-278+1075C>T)
c.640G>A (p.Val214Met)
 ClinVar dbSNP gnomAD v4
2g.165131280A>CCA349043116SCN2A,SCN3Ac.2478T>G (p.Asn826Lys)
c.2529T>G (p.Asn843Lys)
c.*370T>G (n.*370T>G)
c.627T>G (p.Asn209Lys)
c.2391T>G (p.Asn797Lys)
c.2382T>G (p.Asn794Lys)
c.-125+1076A>C (n.-125+1076A>C)
c.-393+1076A>C (n.-393+1076A>C)
c.-278+1076A>C (n.-278+1076A>C)
c.639T>G (p.Asn213Lys)
2g.165131280A>GCA429884125SCN2A,SCN3Ac.2478T>C (p.Asn826=)
c.2529T>C (p.Asn843=)
c.*370T>C (n.*370T>C)
c.627T>C (p.Asn209=)
c.2391T>C (p.Asn797=)
c.2382T>C (p.Asn794=)
c.-125+1076A>G (n.-125+1076A>G)
c.-393+1076A>G (n.-393+1076A>G)
c.-278+1076A>G (n.-278+1076A>G)
c.639T>C (p.Asn213=)
2g.165131280A>TCA349043117SCN2A,SCN3Ac.2478T>A (p.Asn826Lys)
c.2529T>A (p.Asn843Lys)
c.*370T>A (n.*370T>A)
c.627T>A (p.Asn209Lys)
c.2391T>A (p.Asn797Lys)
c.2382T>A (p.Asn794Lys)
c.-125+1076A>T (n.-125+1076A>T)
c.-393+1076A>T (n.-393+1076A>T)
c.-278+1076A>T (n.-278+1076A>T)
c.639T>A (p.Asn213Lys)
2g.165131281T>ACA349043118SCN2A,SCN3Ac.2477A>T (p.Asn826Ile)
c.2528A>T (p.Asn843Ile)
c.*369A>T (n.*369A>T)
c.626A>T (p.Asn209Ile)
c.2390A>T (p.Asn797Ile)
c.2381A>T (p.Asn794Ile)
c.-125+1077T>A (n.-125+1077T>A)
c.-393+1077T>A (n.-393+1077T>A)
c.-278+1077T>A (n.-278+1077T>A)
c.638A>T (p.Asn213Ile)
2g.165131281T>CCA349043119SCN2A,SCN3Ac.2477A>G (p.Asn826Ser)
c.2528A>G (p.Asn843Ser)
c.*369A>G (n.*369A>G)
c.626A>G (p.Asn209Ser)
c.2390A>G (p.Asn797Ser)
c.2381A>G (p.Asn794Ser)
c.-125+1077T>C (n.-125+1077T>C)
c.-393+1077T>C (n.-393+1077T>C)
c.-278+1077T>C (n.-278+1077T>C)
c.638A>G (p.Asn213Ser)
 ClinVar dbSNP gnomAD v4
2g.165131281T>GCA349043120SCN2A,SCN3Ac.2477A>C (p.Asn826Thr)
c.2528A>C (p.Asn843Thr)
c.*369A>C (n.*369A>C)
c.626A>C (p.Asn209Thr)
c.2390A>C (p.Asn797Thr)
c.2381A>C (p.Asn794Thr)
c.-125+1077T>G (n.-125+1077T>G)
c.-393+1077T>G (n.-393+1077T>G)
c.-278+1077T>G (n.-278+1077T>G)
c.638A>C (p.Asn213Thr)
2g.165131281T=CA1304452589SCN2A,SCN3Ac.2477A= (p.Asn826=)
c.2528A= (p.Asn843=)
c.*369A= (n.*369A=)
c.626A= (p.Asn209=)
c.2390A= (p.Asn797=)
c.2381A= (p.Asn794=)
c.-125+1077T= (n.-125+1077T=)
c.-393+1077T= (n.-393+1077T=)
c.-278+1077T= (n.-278+1077T=)
c.638A= (p.Asn213=)
2g.165131282T>ACA349043122SCN2A,SCN3Ac.2476A>T (p.Asn826Tyr)
c.2527A>T (p.Asn843Tyr)
c.*368A>T (n.*368A>T)
c.625A>T (p.Asn209Tyr)
c.2389A>T (p.Asn797Tyr)
c.2380A>T (p.Asn794Tyr)
c.-125+1078T>A (n.-125+1078T>A)
c.-393+1078T>A (n.-393+1078T>A)
c.-278+1078T>A (n.-278+1078T>A)
c.637A>T (p.Asn213Tyr)
 gnomAD v4
2g.165131282T>CCA59735168SCN2A,SCN3Ac.2476A>G (p.Asn826Asp)
c.2527A>G (p.Asn843Asp)
c.*368A>G (n.*368A>G)
c.625A>G (p.Asn209Asp)
c.2389A>G (p.Asn797Asp)
c.2380A>G (p.Asn794Asp)
c.-125+1078T>C (n.-125+1078T>C)
c.-393+1078T>C (n.-393+1078T>C)
c.-278+1078T>C (n.-278+1078T>C)
c.637A>G (p.Asn213Asp)
 dbSNP gnomAD v4
2g.165131282T>GCA349043121SCN2A,SCN3Ac.2476A>C (p.Asn826His)
c.2527A>C (p.Asn843His)
c.*368A>C (n.*368A>C)
c.625A>C (p.Asn209His)
c.2389A>C (p.Asn797His)
c.2380A>C (p.Asn794His)
c.-125+1078T>G (n.-125+1078T>G)
c.-393+1078T>G (n.-393+1078T>G)
c.-278+1078T>G (n.-278+1078T>G)
c.637A>C (p.Asn213His)
2g.165131282T=CA1304452590SCN2A,SCN3Ac.2476A= (p.Asn826=)
c.2527A= (p.Asn843=)
c.*368A= (n.*368A=)
c.625A= (p.Asn209=)
c.2389A= (p.Asn797=)
c.2380A= (p.Asn794=)
c.-125+1078T= (n.-125+1078T=)
c.-393+1078T= (n.-393+1078T=)
c.-278+1078T= (n.-278+1078T=)
c.637A= (p.Asn213=)
2g.165131283T>ACA429884128SCN2A,SCN3Ac.2475A>T (p.Ser825=)
c.2526A>T (p.Ser842=)
c.*367A>T (n.*367A>T)
c.624A>T (p.Ser208=)
c.2388A>T (p.Ser796=)
c.2379A>T (p.Ser793=)
c.-125+1079T>A (n.-125+1079T>A)
c.-393+1079T>A (n.-393+1079T>A)
c.-278+1079T>A (n.-278+1079T>A)
c.636A>T (p.Ser212=)
2g.165131283T>CCA429884127SCN2A,SCN3Ac.2475A>G (p.Ser825=)
c.2526A>G (p.Ser842=)
c.*367A>G (n.*367A>G)
c.624A>G (p.Ser208=)
c.2388A>G (p.Ser796=)
c.2379A>G (p.Ser793=)
c.-125+1079T>C (n.-125+1079T>C)
c.-393+1079T>C (n.-393+1079T>C)
c.-278+1079T>C (n.-278+1079T>C)
c.636A>G (p.Ser212=)
 gnomAD v4
2g.165131283T>GCA429884126SCN2A,SCN3Ac.2475A>C (p.Ser825=)
c.2526A>C (p.Ser842=)
c.*367A>C (n.*367A>C)
c.624A>C (p.Ser208=)
c.2388A>C (p.Ser796=)
c.2379A>C (p.Ser793=)
c.-125+1079T>G (n.-125+1079T>G)
c.-393+1079T>G (n.-393+1079T>G)
c.-278+1079T>G (n.-278+1079T>G)
c.636A>C (p.Ser212=)
2g.165131284G>ACA349043123SCN2A,SCN3Ac.2474C>T (p.Ser825Leu)
c.2525C>T (p.Ser842Leu)
c.*366C>T (n.*366C>T)
c.623C>T (p.Ser208Leu)
c.2387C>T (p.Ser796Leu)
c.2378C>T (p.Ser793Leu)
c.-125+1080G>A (n.-125+1080G>A)
c.-393+1080G>A (n.-393+1080G>A)
c.-278+1080G>A (n.-278+1080G>A)
c.635C>T (p.Ser212Leu)
 dbSNP
2g.165131284G>CCA349043125SCN2A,SCN3Ac.2474C>G (p.Ser825Ter)
c.2525C>G (p.Ser842Ter)
c.*366C>G (n.*366C>G)
c.623C>G (p.Ser208Ter)
c.2387C>G (p.Ser796Ter)
c.2378C>G (p.Ser793Ter)
c.-125+1080G>C (n.-125+1080G>C)
c.-393+1080G>C (n.-393+1080G>C)
c.-278+1080G>C (n.-278+1080G>C)
c.635C>G (p.Ser212Ter)
2g.165131284G>TCA349043124SCN2A,SCN3Ac.2474C>A (p.Ser825Ter)
c.2525C>A (p.Ser842Ter)
c.*366C>A (n.*366C>A)
c.623C>A (p.Ser208Ter)
c.2387C>A (p.Ser796Ter)
c.2378C>A (p.Ser793Ter)
c.-125+1080G>T (n.-125+1080G>T)
c.-393+1080G>T (n.-393+1080G>T)
c.-278+1080G>T (n.-278+1080G>T)
c.635C>A (p.Ser212Ter)
2g.165131285A>CCA349043126SCN2A,SCN3Ac.2473T>G (p.Ser825Ala)
c.2524T>G (p.Ser842Ala)
c.*365T>G (n.*365T>G)
c.622T>G (p.Ser208Ala)
c.2386T>G (p.Ser796Ala)
c.2377T>G (p.Ser793Ala)
c.-125+1081A>C (n.-125+1081A>C)
c.-393+1081A>C (n.-393+1081A>C)
c.-278+1081A>C (n.-278+1081A>C)
c.634T>G (p.Ser212Ala)
2g.165131285A>GCA349043127SCN2A,SCN3Ac.2473T>C (p.Ser825Pro)
c.2524T>C (p.Ser842Pro)
c.*365T>C (n.*365T>C)
c.622T>C (p.Ser208Pro)
c.2386T>C (p.Ser796Pro)
c.2377T>C (p.Ser793Pro)
c.-125+1081A>G (n.-125+1081A>G)
c.-393+1081A>G (n.-393+1081A>G)
c.-278+1081A>G (n.-278+1081A>G)
c.634T>C (p.Ser212Pro)
2g.165131285A>TCA349043128SCN2A,SCN3Ac.2473T>A (p.Ser825Thr)
c.2524T>A (p.Ser842Thr)
c.*365T>A (n.*365T>A)
c.622T>A (p.Ser208Thr)
c.2386T>A (p.Ser796Thr)
c.2377T>A (p.Ser793Thr)
c.-125+1081A>T (n.-125+1081A>T)
c.-393+1081A>T (n.-393+1081A>T)
c.-278+1081A>T (n.-278+1081A>T)
c.634T>A (p.Ser212Thr)
2g.165131286C>ACA429884129SCN2A,SCN3Ac.2472G>T (p.Leu824=)
c.2523G>T (p.Leu841=)
c.*364G>T (n.*364G>T)
c.621G>T (p.Leu207=)
c.2385G>T (p.Leu795=)
c.2376G>T (p.Leu792=)
c.-125+1082C>A (n.-125+1082C>A)
c.-393+1082C>A (n.-393+1082C>A)
c.-278+1082C>A (n.-278+1082C>A)
c.633G>T (p.Leu211=)
 gnomAD v4
2g.165131286C=CA1304452591SCN2A,SCN3Ac.2472G= (p.Leu824=)
c.2523G= (p.Leu841=)
c.*364G= (n.*364G=)
c.621G= (p.Leu207=)
c.2385G= (p.Leu795=)
c.2376G= (p.Leu792=)
c.-125+1082C= (n.-125+1082C=)
c.-393+1082C= (n.-393+1082C=)
c.-278+1082C= (n.-278+1082C=)
c.633G= (p.Leu211=)
2g.165131286C>GCA429884131SCN2A,SCN3Ac.2472G>C (p.Leu824=)
c.2523G>C (p.Leu841=)
c.*364G>C (n.*364G>C)
c.621G>C (p.Leu207=)
c.2385G>C (p.Leu795=)
c.2376G>C (p.Leu792=)
c.-125+1082C>G (n.-125+1082C>G)
c.-393+1082C>G (n.-393+1082C>G)
c.-278+1082C>G (n.-278+1082C>G)
c.633G>C (p.Leu211=)
2g.165131286C>TCA429884130SCN2A,SCN3Ac.2472G>A (p.Leu824=)
c.2523G>A (p.Leu841=)
c.*364G>A (n.*364G>A)
c.621G>A (p.Leu207=)
c.2385G>A (p.Leu795=)
c.2376G>A (p.Leu792=)
c.-125+1082C>T (n.-125+1082C>T)
c.-393+1082C>T (n.-393+1082C>T)
c.-278+1082C>T (n.-278+1082C>T)
c.633G>A (p.Leu211=)
 dbSNP gnomAD v2 gnomAD v4
2g.165131287A>CCA349043129SCN2A,SCN3Ac.2471T>G (p.Leu824Arg)
c.2522T>G (p.Leu841Arg)
c.*363T>G (n.*363T>G)
c.620T>G (p.Leu207Arg)
c.2384T>G (p.Leu795Arg)
c.2375T>G (p.Leu792Arg)
c.-125+1083A>C (n.-125+1083A>C)
c.-393+1083A>C (n.-393+1083A>C)
c.-278+1083A>C (n.-278+1083A>C)
c.632T>G (p.Leu211Arg)
2g.165131287A>GCA349043130SCN2A,SCN3Ac.2471T>C (p.Leu824Pro)
c.2522T>C (p.Leu841Pro)
c.*363T>C (n.*363T>C)
c.620T>C (p.Leu207Pro)
c.2384T>C (p.Leu795Pro)
c.2375T>C (p.Leu792Pro)
c.-125+1083A>G (n.-125+1083A>G)
c.-393+1083A>G (n.-393+1083A>G)
c.-278+1083A>G (n.-278+1083A>G)
c.632T>C (p.Leu211Pro)
 gnomAD v4
2g.165131287A>TCA349043131SCN2A,SCN3Ac.2471T>A (p.Leu824Gln)
c.2522T>A (p.Leu841Gln)
c.*363T>A (n.*363T>A)
c.620T>A (p.Leu207Gln)
c.2384T>A (p.Leu795Gln)
c.2375T>A (p.Leu792Gln)
c.-125+1083A>T (n.-125+1083A>T)
c.-393+1083A>T (n.-393+1083A>T)
c.-278+1083A>T (n.-278+1083A>T)
c.632T>A (p.Leu211Gln)
 COSMIC
2g.165131288G>ACA429884132SCN2A,SCN3Ac.2470C>T (p.Leu824=)
c.2521C>T (p.Leu841=)
c.*362C>T (n.*362C>T)
c.619C>T (p.Leu207=)
c.2383C>T (p.Leu795=)
c.2374C>T (p.Leu792=)
c.-125+1084G>A (n.-125+1084G>A)
c.-393+1084G>A (n.-393+1084G>A)
c.-278+1084G>A (n.-278+1084G>A)
c.631C>T (p.Leu211=)
2g.165131288G>CCA349043132SCN2A,SCN3Ac.2470C>G (p.Leu824Val)
c.2521C>G (p.Leu841Val)
c.*362C>G (n.*362C>G)
c.619C>G (p.Leu207Val)
c.2383C>G (p.Leu795Val)
c.2374C>G (p.Leu792Val)
c.-125+1084G>C (n.-125+1084G>C)
c.-393+1084G>C (n.-393+1084G>C)
c.-278+1084G>C (n.-278+1084G>C)
c.631C>G (p.Leu211Val)
2g.165131288G>TCA349043133SCN2A,SCN3Ac.2470C>A (p.Leu824Met)
c.2521C>A (p.Leu841Met)
c.*362C>A (n.*362C>A)
c.619C>A (p.Leu207Met)
c.2383C>A (p.Leu795Met)
c.2374C>A (p.Leu792Met)
c.-125+1084G>T (n.-125+1084G>T)
c.-393+1084G>T (n.-393+1084G>T)
c.-278+1084G>T (n.-278+1084G>T)
c.631C>A (p.Leu211Met)
 gnomAD v4
2g.165131289A=CA1304452592SCN2A,SCN3Ac.2469T= (p.Gly823=)
c.2520T= (p.Gly840=)
c.*361T= (n.*361T=)
c.618T= (p.Gly206=)
c.2382T= (p.Gly794=)
c.2373T= (p.Gly791=)
c.-125+1085A= (n.-125+1085A=)
c.-393+1085A= (n.-393+1085A=)
c.-278+1085A= (n.-278+1085A=)
c.630T= (p.Gly210=)
2g.165131289A>CCA429884133SCN2A,SCN3Ac.2469T>G (p.Gly823=)
c.2520T>G (p.Gly840=)
c.*361T>G (n.*361T>G)
c.618T>G (p.Gly206=)
c.2382T>G (p.Gly794=)
c.2373T>G (p.Gly791=)
c.-125+1085A>C (n.-125+1085A>C)
c.-393+1085A>C (n.-393+1085A>C)
c.-278+1085A>C (n.-278+1085A>C)
c.630T>G (p.Gly210=)
2g.165131289A>GCA1938945SCN2A,SCN3Ac.2469T>C (p.Gly823=)
c.2520T>C (p.Gly840=)
c.*361T>C (n.*361T>C)
c.618T>C (p.Gly206=)
c.2382T>C (p.Gly794=)
c.2373T>C (p.Gly791=)
c.-125+1085A>G (n.-125+1085A>G)
c.-393+1085A>G (n.-393+1085A>G)
c.-278+1085A>G (n.-278+1085A>G)
c.630T>C (p.Gly210=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.165131289A>TCA429884134SCN2A,SCN3Ac.2469T>A (p.Gly823=)
c.2520T>A (p.Gly840=)
c.*361T>A (n.*361T>A)
c.618T>A (p.Gly206=)
c.2382T>A (p.Gly794=)
c.2373T>A (p.Gly791=)
c.-125+1085A>T (n.-125+1085A>T)
c.-393+1085A>T (n.-393+1085A>T)
c.-278+1085A>T (n.-278+1085A>T)
c.630T>A (p.Gly210=)
2g.165131290C>ACA349043134SCN2A,SCN3Ac.2468G>T (p.Gly823Val)
c.2519G>T (p.Gly840Val)
c.*360G>T (n.*360G>T)
c.617G>T (p.Gly206Val)
c.2381G>T (p.Gly794Val)
c.2372G>T (p.Gly791Val)
c.-125+1086C>A (n.-125+1086C>A)
c.-393+1086C>A (n.-393+1086C>A)
c.-278+1086C>A (n.-278+1086C>A)
c.629G>T (p.Gly210Val)
 dbSNP gnomAD v4
2g.165131290C=CA1304452593SCN2A,SCN3Ac.2468G= (p.Gly823=)
c.2519G= (p.Gly840=)
c.*360G= (n.*360G=)
c.617G= (p.Gly206=)
c.2381G= (p.Gly794=)
c.2372G= (p.Gly791=)
c.-125+1086C= (n.-125+1086C=)
c.-393+1086C= (n.-393+1086C=)
c.-278+1086C= (n.-278+1086C=)
c.629G= (p.Gly210=)
2g.165131290C>GCA349043135SCN2A,SCN3Ac.2468G>C (p.Gly823Ala)
c.2519G>C (p.Gly840Ala)
c.*360G>C (n.*360G>C)
c.617G>C (p.Gly206Ala)
c.2381G>C (p.Gly794Ala)
c.2372G>C (p.Gly791Ala)
c.-125+1086C>G (n.-125+1086C>G)
c.-393+1086C>G (n.-393+1086C>G)
c.-278+1086C>G (n.-278+1086C>G)
c.629G>C (p.Gly210Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.165131290C>TCA349043136SCN2A,SCN3Ac.2468G>A (p.Gly823Asp)
c.2519G>A (p.Gly840Asp)
c.*360G>A (n.*360G>A)
c.617G>A (p.Gly206Asp)
c.2381G>A (p.Gly794Asp)
c.2372G>A (p.Gly791Asp)
c.-125+1086C>T (n.-125+1086C>T)
c.-393+1086C>T (n.-393+1086C>T)
c.-278+1086C>T (n.-278+1086C>T)
c.629G>A (p.Gly210Asp)
2g.165131291C>ACA349043139SCN2A,SCN3Ac.2467G>T (p.Gly823Cys)
c.2518G>T (p.Gly840Cys)
c.*359G>T (n.*359G>T)
c.616G>T (p.Gly206Cys)
c.2380G>T (p.Gly794Cys)
c.2371G>T (p.Gly791Cys)
c.-125+1087C>A (n.-125+1087C>A)
c.-393+1087C>A (n.-393+1087C>A)
c.-278+1087C>A (n.-278+1087C>A)
c.628G>T (p.Gly210Cys)
 gnomAD v4
2g.165131291C>GCA349043137SCN2A,SCN3Ac.2467G>C (p.Gly823Arg)
c.2518G>C (p.Gly840Arg)
c.*359G>C (n.*359G>C)
c.616G>C (p.Gly206Arg)
c.2380G>C (p.Gly794Arg)
c.2371G>C (p.Gly791Arg)
c.-125+1087C>G (n.-125+1087C>G)
c.-393+1087C>G (n.-393+1087C>G)
c.-278+1087C>G (n.-278+1087C>G)
c.628G>C (p.Gly210Arg)
2g.165131291C>TCA349043138SCN2A,SCN3Ac.2467G>A (p.Gly823Ser)
c.2518G>A (p.Gly840Ser)
c.*359G>A (n.*359G>A)
c.616G>A (p.Gly206Ser)
c.2380G>A (p.Gly794Ser)
c.2371G>A (p.Gly791Ser)
c.-125+1087C>T (n.-125+1087C>T)
c.-393+1087C>T (n.-393+1087C>T)
c.-278+1087C>T (n.-278+1087C>T)
c.628G>A (p.Gly210Ser)
2g.165131292A>CCA429884135SCN2A,SCN3Ac.2466T>G (p.Leu822=)
c.2517T>G (p.Leu839=)
c.*358T>G (n.*358T>G)
c.615T>G (p.Leu205=)
c.2379T>G (p.Leu793=)
c.2370T>G (p.Leu790=)
c.-125+1088A>C (n.-125+1088A>C)
c.-393+1088A>C (n.-393+1088A>C)
c.-278+1088A>C (n.-278+1088A>C)
c.627T>G (p.Leu209=)
2g.165131292A>GCA429884136SCN2A,SCN3Ac.2466T>C (p.Leu822=)
c.2517T>C (p.Leu839=)
c.*358T>C (n.*358T>C)
c.615T>C (p.Leu205=)
c.2379T>C (p.Leu793=)
c.2370T>C (p.Leu790=)
c.-125+1088A>G (n.-125+1088A>G)
c.-393+1088A>G (n.-393+1088A>G)
c.-278+1088A>G (n.-278+1088A>G)
c.627T>C (p.Leu209=)
2g.165131292A>TCA429884137SCN2A,SCN3Ac.2466T>A (p.Leu822=)
c.2517T>A (p.Leu839=)
c.*358T>A (n.*358T>A)
c.615T>A (p.Leu205=)
c.2379T>A (p.Leu793=)
c.2370T>A (p.Leu790=)
c.-125+1088A>T (n.-125+1088A>T)
c.-393+1088A>T (n.-393+1088A>T)
c.-278+1088A>T (n.-278+1088A>T)
c.627T>A (p.Leu209=)
2g.165131293A>CCA349043140SCN2A,SCN3Ac.2465T>G (p.Leu822Arg)
c.2516T>G (p.Leu839Arg)
c.*357T>G (n.*357T>G)
c.614T>G (p.Leu205Arg)
c.2378T>G (p.Leu793Arg)
c.2369T>G (p.Leu790Arg)
c.-125+1089A>C (n.-125+1089A>C)
c.-393+1089A>C (n.-393+1089A>C)
c.-278+1089A>C (n.-278+1089A>C)
c.626T>G (p.Leu209Arg)
2g.165131293A>GCA349043141SCN2A,SCN3Ac.2465T>C (p.Leu822Pro)
c.2516T>C (p.Leu839Pro)
c.*357T>C (n.*357T>C)
c.614T>C (p.Leu205Pro)
c.2378T>C (p.Leu793Pro)
c.2369T>C (p.Leu790Pro)
c.-125+1089A>G (n.-125+1089A>G)
c.-393+1089A>G (n.-393+1089A>G)
c.-278+1089A>G (n.-278+1089A>G)
c.626T>C (p.Leu209Pro)
 gnomAD v4
2g.165131293A>TCA349043142SCN2A,SCN3Ac.2465T>A (p.Leu822His)
c.2516T>A (p.Leu839His)
c.*357T>A (n.*357T>A)
c.614T>A (p.Leu205His)
c.2378T>A (p.Leu793His)
c.2369T>A (p.Leu790His)
c.-125+1089A>T (n.-125+1089A>T)
c.-393+1089A>T (n.-393+1089A>T)
c.-278+1089A>T (n.-278+1089A>T)
c.626T>A (p.Leu209His)
2g.165131294G>ACA349043143SCN2A,SCN3Ac.2464C>T (p.Leu822Phe)
c.2515C>T (p.Leu839Phe)
c.*356C>T (n.*356C>T)
c.613C>T (p.Leu205Phe)
c.2377C>T (p.Leu793Phe)
c.2368C>T (p.Leu790Phe)
c.-125+1090G>A (n.-125+1090G>A)
c.-393+1090G>A (n.-393+1090G>A)
c.-278+1090G>A (n.-278+1090G>A)
c.625C>T (p.Leu209Phe)
2g.165131294G>CCA349043144SCN2A,SCN3Ac.2464C>G (p.Leu822Val)
c.2515C>G (p.Leu839Val)
c.*356C>G (n.*356C>G)
c.613C>G (p.Leu205Val)
c.2377C>G (p.Leu793Val)
c.2368C>G (p.Leu790Val)
c.-125+1090G>C (n.-125+1090G>C)
c.-393+1090G>C (n.-393+1090G>C)
c.-278+1090G>C (n.-278+1090G>C)
c.625C>G (p.Leu209Val)
2g.165131294G>TCA349043145SCN2A,SCN3Ac.2464C>A (p.Leu822Ile)
c.2515C>A (p.Leu839Ile)
c.*356C>A (n.*356C>A)
c.613C>A (p.Leu205Ile)
c.2377C>A (p.Leu793Ile)
c.2368C>A (p.Leu790Ile)
c.-125+1090G>T (n.-125+1090G>T)
c.-393+1090G>T (n.-393+1090G>T)
c.-278+1090G>T (n.-278+1090G>T)
c.625C>A (p.Leu209Ile)
2g.165131295C>ACA349043146SCN2A,SCN3Ac.2463G>T (p.Glu821Asp)
c.2514G>T (p.Glu838Asp)
c.*355G>T (n.*355G>T)
c.612G>T (p.Glu204Asp)
c.2376G>T (p.Glu792Asp)
c.2367G>T (p.Glu789Asp)
c.-125+1091C>A (n.-125+1091C>A)
c.-393+1091C>A (n.-393+1091C>A)
c.-278+1091C>A (n.-278+1091C>A)
c.624G>T (p.Glu208Asp)
 gnomAD v4
2g.165131295C>GCA349043147SCN2A,SCN3Ac.2463G>C (p.Glu821Asp)
c.2514G>C (p.Glu838Asp)
c.*355G>C (n.*355G>C)
c.612G>C (p.Glu204Asp)
c.2376G>C (p.Glu792Asp)
c.2367G>C (p.Glu789Asp)
c.-125+1091C>G (n.-125+1091C>G)
c.-393+1091C>G (n.-393+1091C>G)
c.-278+1091C>G (n.-278+1091C>G)
c.624G>C (p.Glu208Asp)
2g.165131295C>TCA429884138SCN2A,SCN3Ac.2463G>A (p.Glu821=)
c.2514G>A (p.Glu838=)
c.*355G>A (n.*355G>A)
c.612G>A (p.Glu204=)
c.2376G>A (p.Glu792=)
c.2367G>A (p.Glu789=)
c.-125+1091C>T (n.-125+1091C>T)
c.-393+1091C>T (n.-393+1091C>T)
c.-278+1091C>T (n.-278+1091C>T)
c.624G>A (p.Glu208=)
2g.165131296T>ACA349043148SCN2A,SCN3Ac.2462A>T (p.Glu821Val)
c.2513A>T (p.Glu838Val)
c.*354A>T (n.*354A>T)
c.611A>T (p.Glu204Val)
c.2375A>T (p.Glu792Val)
c.2366A>T (p.Glu789Val)
c.-125+1092T>A (n.-125+1092T>A)
c.-393+1092T>A (n.-393+1092T>A)
c.-278+1092T>A (n.-278+1092T>A)
c.623A>T (p.Glu208Val)
2g.165131296T>CCA349043149SCN2A,SCN3Ac.2462A>G (p.Glu821Gly)
c.2513A>G (p.Glu838Gly)
c.*354A>G (n.*354A>G)
c.611A>G (p.Glu204Gly)
c.2375A>G (p.Glu792Gly)
c.2366A>G (p.Glu789Gly)
c.-125+1092T>C (n.-125+1092T>C)
c.-393+1092T>C (n.-393+1092T>C)
c.-278+1092T>C (n.-278+1092T>C)
c.623A>G (p.Glu208Gly)
 gnomAD v4
2g.165131296T>GCA349043150SCN2A,SCN3Ac.2462A>C (p.Glu821Ala)
c.2513A>C (p.Glu838Ala)
c.*354A>C (n.*354A>C)
c.611A>C (p.Glu204Ala)
c.2375A>C (p.Glu792Ala)
c.2366A>C (p.Glu789Ala)
c.-125+1092T>G (n.-125+1092T>G)
c.-393+1092T>G (n.-393+1092T>G)
c.-278+1092T>G (n.-278+1092T>G)
c.623A>C (p.Glu208Ala)
2g.165131297C>ACA349043153SCN2A,SCN3Ac.2461G>T (p.Glu821Ter)
c.2512G>T (p.Glu838Ter)
c.*353G>T (n.*353G>T)
c.610G>T (p.Glu204Ter)
c.2374G>T (p.Glu792Ter)
c.2365G>T (p.Glu789Ter)
c.-125+1093C>A (n.-125+1093C>A)
c.-393+1093C>A (n.-393+1093C>A)
c.-278+1093C>A (n.-278+1093C>A)
c.622G>T (p.Glu208Ter)
 dbSNP
2g.165131297C=CA1304452594SCN2A,SCN3Ac.2461G= (p.Glu821=)
c.2512G= (p.Glu838=)
c.*353G= (n.*353G=)
c.610G= (p.Glu204=)
c.2374G= (p.Glu792=)
c.2365G= (p.Glu789=)
c.-125+1093C= (n.-125+1093C=)
c.-393+1093C= (n.-393+1093C=)
c.-278+1093C= (n.-278+1093C=)
c.622G= (p.Glu208=)
2g.165131297C>GCA349043152SCN2A,SCN3Ac.2461G>C (p.Glu821Gln)
c.2512G>C (p.Glu838Gln)
c.*353G>C (n.*353G>C)
c.610G>C (p.Glu204Gln)
c.2374G>C (p.Glu792Gln)
c.2365G>C (p.Glu789Gln)
c.-125+1093C>G (n.-125+1093C>G)
c.-393+1093C>G (n.-393+1093C>G)
c.-278+1093C>G (n.-278+1093C>G)
c.622G>C (p.Glu208Gln)
 COSMIC COSMIC
2g.165131297C>TCA349043151SCN2A,SCN3Ac.2461G>A (p.Glu821Lys)
c.2512G>A (p.Glu838Lys)
c.*353G>A (n.*353G>A)
c.610G>A (p.Glu204Lys)
c.2374G>A (p.Glu792Lys)
c.2365G>A (p.Glu789Lys)
c.-125+1093C>T (n.-125+1093C>T)
c.-393+1093C>T (n.-393+1093C>T)
c.-278+1093C>T (n.-278+1093C>T)
c.622G>A (p.Glu208Lys)
2g.165131298C>ACA349043154SCN2A,SCN3Ac.2460G>T (p.Met820Ile)
c.2511G>T (p.Met837Ile)
c.*352G>T (n.*352G>T)
c.609G>T (p.Met203Ile)
c.2373G>T (p.Met791Ile)
c.2364G>T (p.Met788Ile)
c.-125+1094C>A (n.-125+1094C>A)
c.-393+1094C>A (n.-393+1094C>A)
c.-278+1094C>A (n.-278+1094C>A)
c.621G>T (p.Met207Ile)
2g.165131298C>GCA349043155SCN2A,SCN3Ac.2460G>C (p.Met820Ile)
c.2511G>C (p.Met837Ile)
c.*352G>C (n.*352G>C)
c.609G>C (p.Met203Ile)
c.2373G>C (p.Met791Ile)
c.2364G>C (p.Met788Ile)
c.-125+1094C>G (n.-125+1094C>G)
c.-393+1094C>G (n.-393+1094C>G)
c.-278+1094C>G (n.-278+1094C>G)
c.621G>C (p.Met207Ile)
2g.165131298C>TCA349043156SCN2A,SCN3Ac.2460G>A (p.Met820Ile)
c.2511G>A (p.Met837Ile)
c.*352G>A (n.*352G>A)
c.609G>A (p.Met203Ile)
c.2373G>A (p.Met791Ile)
c.2364G>A (p.Met788Ile)
c.-125+1094C>T (n.-125+1094C>T)
c.-393+1094C>T (n.-393+1094C>T)
c.-278+1094C>T (n.-278+1094C>T)
c.621G>A (p.Met207Ile)
 gnomAD v4 COSMIC COSMIC
2g.165131299A=CA1304452595SCN2A,SCN3Ac.2459T= (p.Met820=)
c.2510T= (p.Met837=)
c.*351T= (n.*351T=)
c.608T= (p.Met203=)
c.2372T= (p.Met791=)
c.2363T= (p.Met788=)
c.-125+1095A= (n.-125+1095A=)
c.-393+1095A= (n.-393+1095A=)
c.-278+1095A= (n.-278+1095A=)
c.620T= (p.Met207=)
2g.165131299A>CCA1938946SCN2A,SCN3Ac.2459T>G (p.Met820Arg)
c.2510T>G (p.Met837Arg)
c.*351T>G (n.*351T>G)
c.608T>G (p.Met203Arg)
c.2372T>G (p.Met791Arg)
c.2363T>G (p.Met788Arg)
c.-125+1095A>C (n.-125+1095A>C)
c.-393+1095A>C (n.-393+1095A>C)
c.-278+1095A>C (n.-278+1095A>C)
c.620T>G (p.Met207Arg)
 dbSNP ExAC gnomAD v2
2g.165131299A>GCA349043157SCN2A,SCN3Ac.2459T>C (p.Met820Thr)
c.2510T>C (p.Met837Thr)
c.*351T>C (n.*351T>C)
c.608T>C (p.Met203Thr)
c.2372T>C (p.Met791Thr)
c.2363T>C (p.Met788Thr)
c.-125+1095A>G (n.-125+1095A>G)
c.-393+1095A>G (n.-393+1095A>G)
c.-278+1095A>G (n.-278+1095A>G)
c.620T>C (p.Met207Thr)
2g.165131299A>TCA349043158SCN2A,SCN3Ac.2459T>A (p.Met820Lys)
c.2510T>A (p.Met837Lys)
c.*351T>A (n.*351T>A)
c.608T>A (p.Met203Lys)
c.2372T>A (p.Met791Lys)
c.2363T>A (p.Met788Lys)
c.-125+1095A>T (n.-125+1095A>T)
c.-393+1095A>T (n.-393+1095A>T)
c.-278+1095A>T (n.-278+1095A>T)
c.620T>A (p.Met207Lys)
2g.165131300T>ACA349043159SCN2A,SCN3Ac.2458A>T (p.Met820Leu)
c.2509A>T (p.Met837Leu)
c.*350A>T (n.*350A>T)
c.607A>T (p.Met203Leu)
c.2371A>T (p.Met791Leu)
c.2362A>T (p.Met788Leu)
c.-125+1096T>A (n.-125+1096T>A)
c.-393+1096T>A (n.-393+1096T>A)
c.-278+1096T>A (n.-278+1096T>A)
c.619A>T (p.Met207Leu)
 gnomAD v4
2g.165131300T>CCA349043160SCN2A,SCN3Ac.2458A>G (p.Met820Val)
c.2509A>G (p.Met837Val)
c.*350A>G (n.*350A>G)
c.607A>G (p.Met203Val)
c.2371A>G (p.Met791Val)
c.2362A>G (p.Met788Val)
c.-125+1096T>C (n.-125+1096T>C)
c.-393+1096T>C (n.-393+1096T>C)
c.-278+1096T>C (n.-278+1096T>C)
c.619A>G (p.Met207Val)
2g.165131300T>GCA349043161SCN2A,SCN3Ac.2458A>C (p.Met820Leu)
c.2509A>C (p.Met837Leu)
c.*350A>C (n.*350A>C)
c.607A>C (p.Met203Leu)
c.2371A>C (p.Met791Leu)
c.2362A>C (p.Met788Leu)
c.-125+1096T>G (n.-125+1096T>G)
c.-393+1096T>G (n.-393+1096T>G)
c.-278+1096T>G (n.-278+1096T>G)
c.619A>C (p.Met207Leu)
2g.165131301T>ACA349043162SCN2A,SCN3Ac.2457A>T (p.Leu819Phe)
c.2508A>T (p.Leu836Phe)
c.*349A>T (n.*349A>T)
c.606A>T (p.Leu202Phe)
c.2370A>T (p.Leu790Phe)
c.2361A>T (p.Leu787Phe)
c.-125+1097T>A (n.-125+1097T>A)
c.-393+1097T>A (n.-393+1097T>A)
c.-278+1097T>A (n.-278+1097T>A)
c.618A>T (p.Leu206Phe)
2g.165131301T>CCA429884139SCN2A,SCN3Ac.2457A>G (p.Leu819=)
c.2508A>G (p.Leu836=)
c.*349A>G (n.*349A>G)
c.606A>G (p.Leu202=)
c.2370A>G (p.Leu790=)
c.2361A>G (p.Leu787=)
c.-125+1097T>C (n.-125+1097T>C)
c.-393+1097T>C (n.-393+1097T>C)
c.-278+1097T>C (n.-278+1097T>C)
c.618A>G (p.Leu206=)
2g.165131301T>GCA349043163SCN2A,SCN3Ac.2457A>C (p.Leu819Phe)
c.2508A>C (p.Leu836Phe)
c.*349A>C (n.*349A>C)
c.606A>C (p.Leu202Phe)
c.2370A>C (p.Leu790Phe)
c.2361A>C (p.Leu787Phe)
c.-125+1097T>G (n.-125+1097T>G)
c.-393+1097T>G (n.-393+1097T>G)
c.-278+1097T>G (n.-278+1097T>G)
c.618A>C (p.Leu206Phe)
2g.165131302A>CCA349043164SCN2A,SCN3Ac.2456T>G (p.Leu819Ter)
c.2507T>G (p.Leu836Ter)
c.*348T>G (n.*348T>G)
c.605T>G (p.Leu202Ter)
c.2369T>G (p.Leu790Ter)
c.2360T>G (p.Leu787Ter)
c.-125+1098A>C (n.-125+1098A>C)
c.-393+1098A>C (n.-393+1098A>C)
c.-278+1098A>C (n.-278+1098A>C)
c.617T>G (p.Leu206Ter)
2g.165131302A>GCA349043165SCN2A,SCN3Ac.2456T>C (p.Leu819Ser)
c.2507T>C (p.Leu836Ser)
c.*348T>C (n.*348T>C)
c.605T>C (p.Leu202Ser)
c.2369T>C (p.Leu790Ser)
c.2360T>C (p.Leu787Ser)
c.-125+1098A>G (n.-125+1098A>G)
c.-393+1098A>G (n.-393+1098A>G)
c.-278+1098A>G (n.-278+1098A>G)
c.617T>C (p.Leu206Ser)
2g.165131302A>TCA349043166SCN2A,SCN3Ac.2456T>A (p.Leu819Ter)
c.2507T>A (p.Leu836Ter)
c.*348T>A (n.*348T>A)
c.605T>A (p.Leu202Ter)
c.2369T>A (p.Leu790Ter)
c.2360T>A (p.Leu787Ter)
c.-125+1098A>T (n.-125+1098A>T)
c.-393+1098A>T (n.-393+1098A>T)
c.-278+1098A>T (n.-278+1098A>T)
c.617T>A (p.Leu206Ter)
2g.165131303A>CCA349043167SCN2A,SCN3Ac.2455T>G (p.Leu819Val)
c.2506T>G (p.Leu836Val)
c.*347T>G (n.*347T>G)
c.604T>G (p.Leu202Val)
c.2368T>G (p.Leu790Val)
c.2359T>G (p.Leu787Val)
c.-125+1099A>C (n.-125+1099A>C)
c.-393+1099A>C (n.-393+1099A>C)
c.-278+1099A>C (n.-278+1099A>C)
c.616T>G (p.Leu206Val)
2g.165131303A>GCA429884140SCN2A,SCN3Ac.2455T>C (p.Leu819=)
c.2506T>C (p.Leu836=)
c.*347T>C (n.*347T>C)
c.604T>C (p.Leu202=)
c.2368T>C (p.Leu790=)
c.2359T>C (p.Leu787=)
c.-125+1099A>G (n.-125+1099A>G)
c.-393+1099A>G (n.-393+1099A>G)
c.-278+1099A>G (n.-278+1099A>G)
c.616T>C (p.Leu206=)
 gnomAD v4
2g.165131303A>TCA349043168SCN2A,SCN3Ac.2455T>A (p.Leu819Ile)
c.2506T>A (p.Leu836Ile)
c.*347T>A (n.*347T>A)
c.604T>A (p.Leu202Ile)
c.2368T>A (p.Leu790Ile)
c.2359T>A (p.Leu787Ile)
c.-125+1099A>T (n.-125+1099A>T)
c.-393+1099A>T (n.-393+1099A>T)
c.-278+1099A>T (n.-278+1099A>T)
c.616T>A (p.Leu206Ile)
2g.165131304A>CCA349043169SCN2A,SCN3Ac.2454T>G (p.Ser818Arg)
c.2505T>G (p.Ser835Arg)
c.*346T>G (n.*346T>G)
c.603T>G (p.Ser201Arg)
c.2367T>G (p.Ser789Arg)
c.2358T>G (p.Ser786Arg)
c.-125+1100A>C (n.-125+1100A>C)
c.-393+1100A>C (n.-393+1100A>C)
c.-278+1100A>C (n.-278+1100A>C)
c.615T>G (p.Ser205Arg)
2g.165131304A>GCA429884141SCN2A,SCN3Ac.2454T>C (p.Ser818=)
c.2505T>C (p.Ser835=)
c.*346T>C (n.*346T>C)
c.603T>C (p.Ser201=)
c.2367T>C (p.Ser789=)
c.2358T>C (p.Ser786=)
c.-125+1100A>G (n.-125+1100A>G)
c.-393+1100A>G (n.-393+1100A>G)
c.-278+1100A>G (n.-278+1100A>G)
c.615T>C (p.Ser205=)
2g.165131304A>TCA349043170SCN2A,SCN3Ac.2454T>A (p.Ser818Arg)
c.2505T>A (p.Ser835Arg)
c.*346T>A (n.*346T>A)
c.603T>A (p.Ser201Arg)
c.2367T>A (p.Ser789Arg)
c.2358T>A (p.Ser786Arg)
c.-125+1100A>T (n.-125+1100A>T)
c.-393+1100A>T (n.-393+1100A>T)
c.-278+1100A>T (n.-278+1100A>T)
c.615T>A (p.Ser205Arg)
2g.165131305C>ACA349043171SCN2A,SCN3Ac.2453G>T (p.Ser818Ile)
c.2504G>T (p.Ser835Ile)
c.*345G>T (n.*345G>T)
c.602G>T (p.Ser201Ile)
c.2366G>T (p.Ser789Ile)
c.2357G>T (p.Ser786Ile)
c.-125+1101C>A (n.-125+1101C>A)
c.-393+1101C>A (n.-393+1101C>A)
c.-278+1101C>A (n.-278+1101C>A)
c.614G>T (p.Ser205Ile)
2g.165131305C>GCA349043172SCN2A,SCN3Ac.2453G>C (p.Ser818Thr)
c.2504G>C (p.Ser835Thr)
c.*345G>C (n.*345G>C)
c.602G>C (p.Ser201Thr)
c.2366G>C (p.Ser789Thr)
c.2357G>C (p.Ser786Thr)
c.-125+1101C>G (n.-125+1101C>G)
c.-393+1101C>G (n.-393+1101C>G)
c.-278+1101C>G (n.-278+1101C>G)
c.614G>C (p.Ser205Thr)
2g.165131305C>TCA349043173SCN2A,SCN3Ac.2453G>A (p.Ser818Asn)
c.2504G>A (p.Ser835Asn)
c.*345G>A (n.*345G>A)
c.602G>A (p.Ser201Asn)
c.2366G>A (p.Ser789Asn)
c.2357G>A (p.Ser786Asn)
c.-125+1101C>T (n.-125+1101C>T)
c.-393+1101C>T (n.-393+1101C>T)
c.-278+1101C>T (n.-278+1101C>T)
c.614G>A (p.Ser205Asn)
 COSMIC COSMIC
2g.165131306T>ACA349043174SCN2A,SCN3Ac.2452A>T (p.Ser818Cys)
c.2503A>T (p.Ser835Cys)
c.*344A>T (n.*344A>T)
c.601A>T (p.Ser201Cys)
c.2365A>T (p.Ser789Cys)
c.2356A>T (p.Ser786Cys)
c.-125+1102T>A (n.-125+1102T>A)
c.-393+1102T>A (n.-393+1102T>A)
c.-278+1102T>A (n.-278+1102T>A)
c.613A>T (p.Ser205Cys)
2g.165131306T>CCA349043175SCN2A,SCN3Ac.2452A>G (p.Ser818Gly)
c.2503A>G (p.Ser835Gly)
c.*344A>G (n.*344A>G)
c.601A>G (p.Ser201Gly)
c.2365A>G (p.Ser789Gly)
c.2356A>G (p.Ser786Gly)
c.-125+1102T>C (n.-125+1102T>C)
c.-393+1102T>C (n.-393+1102T>C)
c.-278+1102T>C (n.-278+1102T>C)
c.613A>G (p.Ser205Gly)
2g.165131306T>GCA349043176SCN2A,SCN3Ac.2452A>C (p.Ser818Arg)
c.2503A>C (p.Ser835Arg)
c.*344A>C (n.*344A>C)
c.601A>C (p.Ser201Arg)
c.2365A>C (p.Ser789Arg)
c.2356A>C (p.Ser786Arg)
c.-125+1102T>G (n.-125+1102T>G)
c.-393+1102T>G (n.-393+1102T>G)
c.-278+1102T>G (n.-278+1102T>G)
c.613A>C (p.Ser205Arg)
2g.165131307G>ACA59735189SCN2A,SCN3Ac.2451C>T (p.Leu817=)
c.2502C>T (p.Leu834=)
c.*343C>T (n.*343C>T)
c.600C>T (p.Leu200=)
c.2364C>T (p.Leu788=)
c.2355C>T (p.Leu785=)
c.-125+1103G>A (n.-125+1103G>A)
c.-393+1103G>A (n.-393+1103G>A)
c.-278+1103G>A (n.-278+1103G>A)
c.612C>T (p.Leu204=)
 dbSNP
2g.165131307G>CCA429884143SCN2A,SCN3Ac.2451C>G (p.Leu817=)
c.2502C>G (p.Leu834=)
c.*343C>G (n.*343C>G)
c.600C>G (p.Leu200=)
c.2364C>G (p.Leu788=)
c.2355C>G (p.Leu785=)
c.-125+1103G>C (n.-125+1103G>C)
c.-393+1103G>C (n.-393+1103G>C)
c.-278+1103G>C (n.-278+1103G>C)
c.612C>G (p.Leu204=)
2g.165131307G=CA1304452596SCN2A,SCN3Ac.2451C= (p.Leu817=)
c.2502C= (p.Leu834=)
c.*343C= (n.*343C=)
c.600C= (p.Leu200=)
c.2364C= (p.Leu788=)
c.2355C= (p.Leu785=)
c.-125+1103G= (n.-125+1103G=)
c.-393+1103G= (n.-393+1103G=)
c.-278+1103G= (n.-278+1103G=)
c.612C= (p.Leu204=)
2g.165131307G>TCA429884142SCN2A,SCN3Ac.2451C>A (p.Leu817=)
c.2502C>A (p.Leu834=)
c.*343C>A (n.*343C>A)
c.600C>A (p.Leu200=)
c.2364C>A (p.Leu788=)
c.2355C>A (p.Leu785=)
c.-125+1103G>T (n.-125+1103G>T)
c.-393+1103G>T (n.-393+1103G>T)
c.-278+1103G>T (n.-278+1103G>T)
c.612C>A (p.Leu204=)
2g.165131308A>CCA349043177SCN2A,SCN3Ac.2450T>G (p.Leu817Arg)
c.2501T>G (p.Leu834Arg)
c.*342T>G (n.*342T>G)
c.599T>G (p.Leu200Arg)
c.2363T>G (p.Leu788Arg)
c.2354T>G (p.Leu785Arg)
c.-125+1104A>C (n.-125+1104A>C)
c.-393+1104A>C (n.-393+1104A>C)
c.-278+1104A>C (n.-278+1104A>C)
c.611T>G (p.Leu204Arg)
2g.165131308A>GCA349043178SCN2A,SCN3Ac.2450T>C (p.Leu817Pro)
c.2501T>C (p.Leu834Pro)
c.*342T>C (n.*342T>C)
c.599T>C (p.Leu200Pro)
c.2363T>C (p.Leu788Pro)
c.2354T>C (p.Leu785Pro)
c.-125+1104A>G (n.-125+1104A>G)
c.-393+1104A>G (n.-393+1104A>G)
c.-278+1104A>G (n.-278+1104A>G)
c.611T>C (p.Leu204Pro)
 gnomAD v4
2g.165131308A>TCA349043179SCN2A,SCN3Ac.2450T>A (p.Leu817His)
c.2501T>A (p.Leu834His)
c.*342T>A (n.*342T>A)
c.599T>A (p.Leu200His)
c.2363T>A (p.Leu788His)
c.2354T>A (p.Leu785His)
c.-125+1104A>T (n.-125+1104A>T)
c.-393+1104A>T (n.-393+1104A>T)
c.-278+1104A>T (n.-278+1104A>T)
c.611T>A (p.Leu204His)
2g.165131309G>ACA349043180SCN2A,SCN3Ac.2449C>T (p.Leu817Phe)
c.2500C>T (p.Leu834Phe)
c.*341C>T (n.*341C>T)
c.598C>T (p.Leu200Phe)
c.2362C>T (p.Leu788Phe)
c.2353C>T (p.Leu785Phe)
c.-125+1105G>A (n.-125+1105G>A)
c.-393+1105G>A (n.-393+1105G>A)
c.-278+1105G>A (n.-278+1105G>A)
c.610C>T (p.Leu204Phe)
2g.165131309G>CCA349043182SCN2A,SCN3Ac.2449C>G (p.Leu817Val)
c.2500C>G (p.Leu834Val)
c.*341C>G (n.*341C>G)
c.598C>G (p.Leu200Val)
c.2362C>G (p.Leu788Val)
c.2353C>G (p.Leu785Val)
c.-125+1105G>C (n.-125+1105G>C)
c.-393+1105G>C (n.-393+1105G>C)
c.-278+1105G>C (n.-278+1105G>C)
c.610C>G (p.Leu204Val)
2g.165131309G>TCA349043181SCN2A,SCN3Ac.2449C>A (p.Leu817Ile)
c.2500C>A (p.Leu834Ile)
c.*341C>A (n.*341C>A)
c.598C>A (p.Leu200Ile)
c.2362C>A (p.Leu788Ile)
c.2353C>A (p.Leu785Ile)
c.-125+1105G>T (n.-125+1105G>T)
c.-393+1105G>T (n.-393+1105G>T)
c.-278+1105G>T (n.-278+1105G>T)
c.610C>A (p.Leu204Ile)
2g.165131310G>ACA429884144SCN2A,SCN3Ac.2448C>T (p.Ser816=)
c.2499C>T (p.Ser833=)
c.*340C>T (n.*340C>T)
c.597C>T (p.Ser199=)
c.2361C>T (p.Ser787=)
c.2352C>T (p.Ser784=)
c.-125+1106G>A (n.-125+1106G>A)
c.-393+1106G>A (n.-393+1106G>A)
c.-278+1106G>A (n.-278+1106G>A)
c.609C>T (p.Ser203=)
 dbSNP
2g.165131310G>CCA349043183SCN2A,SCN3Ac.2448C>G (p.Ser816Arg)
c.2499C>G (p.Ser833Arg)
c.*340C>G (n.*340C>G)
c.597C>G (p.Ser199Arg)
c.2361C>G (p.Ser787Arg)
c.2352C>G (p.Ser784Arg)
c.-125+1106G>C (n.-125+1106G>C)
c.-393+1106G>C (n.-393+1106G>C)
c.-278+1106G>C (n.-278+1106G>C)
c.609C>G (p.Ser203Arg)
2g.165131310G>TCA349043184SCN2A,SCN3Ac.2448C>A (p.Ser816Arg)
c.2499C>A (p.Ser833Arg)
c.*340C>A (n.*340C>A)
c.597C>A (p.Ser199Arg)
c.2361C>A (p.Ser787Arg)
c.2352C>A (p.Ser784Arg)
c.-125+1106G>T (n.-125+1106G>T)
c.-393+1106G>T (n.-393+1106G>T)
c.-278+1106G>T (n.-278+1106G>T)
c.609C>A (p.Ser203Arg)
2g.165131311C>ACA349043185SCN2A,SCN3Ac.2447G>T (p.Ser816Ile)
c.2498G>T (p.Ser833Ile)
c.*339G>T (n.*339G>T)
c.596G>T (p.Ser199Ile)
c.2360G>T (p.Ser787Ile)
c.2351G>T (p.Ser784Ile)
c.-125+1107C>A (n.-125+1107C>A)
c.-393+1107C>A (n.-393+1107C>A)
c.-278+1107C>A (n.-278+1107C>A)
c.608G>T (p.Ser203Ile)
2g.165131311C>GCA349043187SCN2A,SCN3Ac.2447G>C (p.Ser816Thr)
c.2498G>C (p.Ser833Thr)
c.*339G>C (n.*339G>C)
c.596G>C (p.Ser199Thr)
c.2360G>C (p.Ser787Thr)
c.2351G>C (p.Ser784Thr)
c.-125+1107C>G (n.-125+1107C>G)
c.-393+1107C>G (n.-393+1107C>G)
c.-278+1107C>G (n.-278+1107C>G)
c.608G>C (p.Ser203Thr)
2g.165131311C>TCA349043186SCN2A,SCN3Ac.2447G>A (p.Ser816Asn)
c.2498G>A (p.Ser833Asn)
c.*339G>A (n.*339G>A)
c.596G>A (p.Ser199Asn)
c.2360G>A (p.Ser787Asn)
c.2351G>A (p.Ser784Asn)
c.-125+1107C>T (n.-125+1107C>T)
c.-393+1107C>T (n.-393+1107C>T)
c.-278+1107C>T (n.-278+1107C>T)
c.608G>A (p.Ser203Asn)
 COSMIC COSMIC
2g.165131312T>ACA349043188SCN2A,SCN3Ac.2446A>T (p.Ser816Cys)
c.2497A>T (p.Ser833Cys)
c.*338A>T (n.*338A>T)
c.595A>T (p.Ser199Cys)
c.2359A>T (p.Ser787Cys)
c.2350A>T (p.Ser784Cys)
c.-125+1108T>A (n.-125+1108T>A)
c.-393+1108T>A (n.-393+1108T>A)
c.-278+1108T>A (n.-278+1108T>A)
c.607A>T (p.Ser203Cys)
2g.165131312T>CCA349043189SCN2A,SCN3Ac.2446A>G (p.Ser816Gly)
c.2497A>G (p.Ser833Gly)
c.*338A>G (n.*338A>G)
c.595A>G (p.Ser199Gly)
c.2359A>G (p.Ser787Gly)
c.2350A>G (p.Ser784Gly)
c.-125+1108T>C (n.-125+1108T>C)
c.-393+1108T>C (n.-393+1108T>C)
c.-278+1108T>C (n.-278+1108T>C)
c.607A>G (p.Ser203Gly)
2g.165131312T>GCA349043190SCN2A,SCN3Ac.2446A>C (p.Ser816Arg)
c.2497A>C (p.Ser833Arg)
c.*338A>C (n.*338A>C)
c.595A>C (p.Ser199Arg)
c.2359A>C (p.Ser787Arg)
c.2350A>C (p.Ser784Arg)
c.-125+1108T>G (n.-125+1108T>G)
c.-393+1108T>G (n.-393+1108T>G)
c.-278+1108T>G (n.-278+1108T>G)
c.607A>C (p.Ser203Arg)
2g.165131313G>ACA429884145SCN2A,SCN3Ac.2445C>T (p.Val815=)
c.2496C>T (p.Val832=)
c.*337C>T (n.*337C>T)
c.594C>T (p.Val198=)
c.2358C>T (p.Val786=)
c.2349C>T (p.Val783=)
c.-125+1109G>A (n.-125+1109G>A)
c.-393+1109G>A (n.-393+1109G>A)
c.-278+1109G>A (n.-278+1109G>A)
c.606C>T (p.Val202=)
 ClinVar gnomAD v4
2g.165131313G>CCA429884146SCN2A,SCN3Ac.2445C>G (p.Val815=)
c.2496C>G (p.Val832=)
c.*337C>G (n.*337C>G)
c.594C>G (p.Val198=)
c.2358C>G (p.Val786=)
c.2349C>G (p.Val783=)
c.-125+1109G>C (n.-125+1109G>C)
c.-393+1109G>C (n.-393+1109G>C)
c.-278+1109G>C (n.-278+1109G>C)
c.606C>G (p.Val202=)
2g.165131313G>TCA429884147SCN2A,SCN3Ac.2445C>A (p.Val815=)
c.2496C>A (p.Val832=)
c.*337C>A (n.*337C>A)
c.594C>A (p.Val198=)
c.2358C>A (p.Val786=)
c.2349C>A (p.Val783=)
c.-125+1109G>T (n.-125+1109G>T)
c.-393+1109G>T (n.-393+1109G>T)
c.-278+1109G>T (n.-278+1109G>T)
c.606C>A (p.Val202=)
2g.165131314A>CCA349043191SCN2A,SCN3Ac.2444T>G (p.Val815Gly)
c.2495T>G (p.Val832Gly)
c.*336T>G (n.*336T>G)
c.593T>G (p.Val198Gly)
c.2357T>G (p.Val786Gly)
c.2348T>G (p.Val783Gly)
c.-125+1110A>C (n.-125+1110A>C)
c.-393+1110A>C (n.-393+1110A>C)
c.-278+1110A>C (n.-278+1110A>C)
c.605T>G (p.Val202Gly)
2g.165131314A>GCA349043192SCN2A,SCN3Ac.2444T>C (p.Val815Ala)
c.2495T>C (p.Val832Ala)
c.*336T>C (n.*336T>C)
c.593T>C (p.Val198Ala)
c.2357T>C (p.Val786Ala)
c.2348T>C (p.Val783Ala)
c.-125+1110A>G (n.-125+1110A>G)
c.-393+1110A>G (n.-393+1110A>G)
c.-278+1110A>G (n.-278+1110A>G)
c.605T>C (p.Val202Ala)
2g.165131314A>TCA349043193SCN2A,SCN3Ac.2444T>A (p.Val815Asp)
c.2495T>A (p.Val832Asp)
c.*336T>A (n.*336T>A)
c.593T>A (p.Val198Asp)
c.2357T>A (p.Val786Asp)
c.2348T>A (p.Val783Asp)
c.-125+1110A>T (n.-125+1110A>T)
c.-393+1110A>T (n.-393+1110A>T)
c.-278+1110A>T (n.-278+1110A>T)
c.605T>A (p.Val202Asp)
2g.165131315C>ACA349043194SCN2A,SCN3Ac.2443G>T (p.Val815Phe)
c.2494G>T (p.Val832Phe)
c.*335G>T (n.*335G>T)
c.592G>T (p.Val198Phe)
c.2356G>T (p.Val786Phe)
c.2347G>T (p.Val783Phe)
c.-125+1111C>A (n.-125+1111C>A)
c.-393+1111C>A (n.-393+1111C>A)
c.-278+1111C>A (n.-278+1111C>A)
c.604G>T (p.Val202Phe)
 gnomAD v4
2g.165131315C>GCA349043195SCN2A,SCN3Ac.2443G>C (p.Val815Leu)
c.2494G>C (p.Val832Leu)
c.*335G>C (n.*335G>C)
c.592G>C (p.Val198Leu)
c.2356G>C (p.Val786Leu)
c.2347G>C (p.Val783Leu)
c.-125+1111C>G (n.-125+1111C>G)
c.-393+1111C>G (n.-393+1111C>G)
c.-278+1111C>G (n.-278+1111C>G)
c.604G>C (p.Val202Leu)
2g.165131315C>TCA349043196SCN2A,SCN3Ac.2443G>A (p.Val815Ile)
c.2494G>A (p.Val832Ile)
c.*335G>A (n.*335G>A)
c.592G>A (p.Val198Ile)
c.2356G>A (p.Val786Ile)
c.2347G>A (p.Val783Ile)
c.-125+1111C>T (n.-125+1111C>T)
c.-393+1111C>T (n.-393+1111C>T)
c.-278+1111C>T (n.-278+1111C>T)
c.604G>A (p.Val202Ile)
2g.165131316A>CCA349043197SCN2A,SCN3Ac.2442T>G (p.Ile814Met)
c.2493T>G (p.Ile831Met)
c.*334T>G (n.*334T>G)
c.591T>G (p.Ile197Met)
c.2355T>G (p.Ile785Met)
c.2346T>G (p.Ile782Met)
c.-125+1112A>C (n.-125+1112A>C)
c.-393+1112A>C (n.-393+1112A>C)
c.-278+1112A>C (n.-278+1112A>C)
c.603T>G (p.Ile201Met)
2g.165131316A>GCA429884148SCN2A,SCN3Ac.2442T>C (p.Ile814=)
c.2493T>C (p.Ile831=)
c.*334T>C (n.*334T>C)
c.591T>C (p.Ile197=)
c.2355T>C (p.Ile785=)
c.2346T>C (p.Ile782=)
c.-125+1112A>G (n.-125+1112A>G)
c.-393+1112A>G (n.-393+1112A>G)
c.-278+1112A>G (n.-278+1112A>G)
c.603T>C (p.Ile201=)
2g.165131316A>TCA429884149SCN2A,SCN3Ac.2442T>A (p.Ile814=)
c.2493T>A (p.Ile831=)
c.*334T>A (n.*334T>A)
c.591T>A (p.Ile197=)
c.2355T>A (p.Ile785=)
c.2346T>A (p.Ile782=)
c.-125+1112A>T (n.-125+1112A>T)
c.-393+1112A>T (n.-393+1112A>T)
c.-278+1112A>T (n.-278+1112A>T)
c.603T>A (p.Ile201=)
2g.165131317A=CA1304452597SCN2A,SCN3Ac.2441T= (p.Ile814=)
c.2492T= (p.Ile831=)
c.*333T= (n.*333T=)
c.590T= (p.Ile197=)
c.2354T= (p.Ile785=)
c.2345T= (p.Ile782=)
c.-125+1113A= (n.-125+1113A=)
c.-393+1113A= (n.-393+1113A=)
c.-278+1113A= (n.-278+1113A=)
c.602T= (p.Ile201=)
2g.165131317A>CCA1938947SCN2A,SCN3Ac.2441T>G (p.Ile814Ser)
c.2492T>G (p.Ile831Ser)
c.*333T>G (n.*333T>G)
c.590T>G (p.Ile197Ser)
c.2354T>G (p.Ile785Ser)
c.2345T>G (p.Ile782Ser)
c.-125+1113A>C (n.-125+1113A>C)
c.-393+1113A>C (n.-393+1113A>C)
c.-278+1113A>C (n.-278+1113A>C)
c.602T>G (p.Ile201Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.165131317A>GCA349043199SCN2A,SCN3Ac.2441T>C (p.Ile814Thr)
c.2492T>C (p.Ile831Thr)
c.*333T>C (n.*333T>C)
c.590T>C (p.Ile197Thr)
c.2354T>C (p.Ile785Thr)
c.2345T>C (p.Ile782Thr)
c.-125+1113A>G (n.-125+1113A>G)
c.-393+1113A>G (n.-393+1113A>G)
c.-278+1113A>G (n.-278+1113A>G)
c.602T>C (p.Ile201Thr)
2g.165131317A>TCA349043198SCN2A,SCN3Ac.2441T>A (p.Ile814Asn)
c.2492T>A (p.Ile831Asn)
c.*333T>A (n.*333T>A)
c.590T>A (p.Ile197Asn)
c.2354T>A (p.Ile785Asn)
c.2345T>A (p.Ile782Asn)
c.-125+1113A>T (n.-125+1113A>T)
c.-393+1113A>T (n.-393+1113A>T)
c.-278+1113A>T (n.-278+1113A>T)
c.602T>A (p.Ile201Asn)
 gnomAD v4
2g.165131318T>ACA349043200SCN2A,SCN3Ac.2440A>T (p.Ile814Phe)
c.2491A>T (p.Ile831Phe)
c.*332A>T (n.*332A>T)
c.589A>T (p.Ile197Phe)
c.2353A>T (p.Ile785Phe)
c.2344A>T (p.Ile782Phe)
c.-125+1114T>A (n.-125+1114T>A)
c.-393+1114T>A (n.-393+1114T>A)
c.-278+1114T>A (n.-278+1114T>A)
c.601A>T (p.Ile201Phe)
2g.165131318T>CCA349043201SCN2A,SCN3Ac.2440A>G (p.Ile814Val)
c.2491A>G (p.Ile831Val)
c.*332A>G (n.*332A>G)
c.589A>G (p.Ile197Val)
c.2353A>G (p.Ile785Val)
c.2344A>G (p.Ile782Val)
c.-125+1114T>C (n.-125+1114T>C)
c.-393+1114T>C (n.-393+1114T>C)
c.-278+1114T>C (n.-278+1114T>C)
c.601A>G (p.Ile201Val)
2g.165131318T>GCA349043202SCN2A,SCN3Ac.2440A>C (p.Ile814Leu)
c.2491A>C (p.Ile831Leu)
c.*332A>C (n.*332A>C)
c.589A>C (p.Ile197Leu)
c.2353A>C (p.Ile785Leu)
c.2344A>C (p.Ile782Leu)
c.-125+1114T>G (n.-125+1114T>G)
c.-393+1114T>G (n.-393+1114T>G)
c.-278+1114T>G (n.-278+1114T>G)
c.601A>C (p.Ile201Leu)
2g.165131319A>CCA349043203SCN2A,SCN3Ac.2439T>G (p.Ile813Met)
c.2490T>G (p.Ile830Met)
c.*331T>G (n.*331T>G)
c.588T>G (p.Ile196Met)
c.2352T>G (p.Ile784Met)
c.2343T>G (p.Ile781Met)
c.-125+1115A>C (n.-125+1115A>C)
c.-393+1115A>C (n.-393+1115A>C)
c.-278+1115A>C (n.-278+1115A>C)
c.600T>G (p.Ile200Met)
2g.165131319A>GCA429884150SCN2A,SCN3Ac.2439T>C (p.Ile813=)
c.2490T>C (p.Ile830=)
c.*331T>C (n.*331T>C)
c.588T>C (p.Ile196=)
c.2352T>C (p.Ile784=)
c.2343T>C (p.Ile781=)
c.-125+1115A>G (n.-125+1115A>G)
c.-393+1115A>G (n.-393+1115A>G)
c.-278+1115A>G (n.-278+1115A>G)
c.600T>C (p.Ile200=)
2g.165131319A>TCA429884151SCN2A,SCN3Ac.2439T>A (p.Ile813=)
c.2490T>A (p.Ile830=)
c.*331T>A (n.*331T>A)
c.588T>A (p.Ile196=)
c.2352T>A (p.Ile784=)
c.2343T>A (p.Ile781=)
c.-125+1115A>T (n.-125+1115A>T)
c.-393+1115A>T (n.-393+1115A>T)
c.-278+1115A>T (n.-278+1115A>T)
c.600T>A (p.Ile200=)
2g.165131320A>CCA349043204SCN2A,SCN3Ac.2438T>G (p.Ile813Ser)
c.2489T>G (p.Ile830Ser)
c.*330T>G (n.*330T>G)
c.587T>G (p.Ile196Ser)
c.2351T>G (p.Ile784Ser)
c.2342T>G (p.Ile781Ser)
c.-125+1116A>C (n.-125+1116A>C)
c.-393+1116A>C (n.-393+1116A>C)
c.-278+1116A>C (n.-278+1116A>C)
c.599T>G (p.Ile200Ser)
2g.165131320A>GCA349043205SCN2A,SCN3Ac.2438T>C (p.Ile813Thr)
c.2489T>C (p.Ile830Thr)
c.*330T>C (n.*330T>C)
c.587T>C (p.Ile196Thr)
c.2351T>C (p.Ile784Thr)
c.2342T>C (p.Ile781Thr)
c.-125+1116A>G (n.-125+1116A>G)
c.-393+1116A>G (n.-393+1116A>G)
c.-278+1116A>G (n.-278+1116A>G)
c.599T>C (p.Ile200Thr)
2g.165131320A>TCA349043206SCN2A,SCN3Ac.2438T>A (p.Ile813Asn)
c.2489T>A (p.Ile830Asn)
c.*330T>A (n.*330T>A)
c.587T>A (p.Ile196Asn)
c.2351T>A (p.Ile784Asn)
c.2342T>A (p.Ile781Asn)
c.-125+1116A>T (n.-125+1116A>T)
c.-393+1116A>T (n.-393+1116A>T)
c.-278+1116A>T (n.-278+1116A>T)
c.599T>A (p.Ile200Asn)
2g.165131321T>ACA349043207SCN2A,SCN3Ac.2437A>T (p.Ile813Phe)
c.2488A>T (p.Ile830Phe)
c.*329A>T (n.*329A>T)
c.586A>T (p.Ile196Phe)
c.2350A>T (p.Ile784Phe)
c.2341A>T (p.Ile781Phe)
c.-125+1117T>A (n.-125+1117T>A)
c.-393+1117T>A (n.-393+1117T>A)
c.-278+1117T>A (n.-278+1117T>A)
c.598A>T (p.Ile200Phe)
2g.165131321T>CCA349043208SCN2A,SCN3Ac.2437A>G (p.Ile813Val)
c.2488A>G (p.Ile830Val)
c.*329A>G (n.*329A>G)
c.586A>G (p.Ile196Val)
c.2350A>G (p.Ile784Val)
c.2341A>G (p.Ile781Val)
c.-125+1117T>C (n.-125+1117T>C)
c.-393+1117T>C (n.-393+1117T>C)
c.-278+1117T>C (n.-278+1117T>C)
c.598A>G (p.Ile200Val)
 gnomAD v4
2g.165131321T>GCA349043209SCN2A,SCN3Ac.2437A>C (p.Ile813Leu)
c.2488A>C (p.Ile830Leu)
c.*329A>C (n.*329A>C)
c.586A>C (p.Ile196Leu)
c.2350A>C (p.Ile784Leu)
c.2341A>C (p.Ile781Leu)
c.-125+1117T>G (n.-125+1117T>G)
c.-393+1117T>G (n.-393+1117T>G)
c.-278+1117T>G (n.-278+1117T>G)
c.598A>C (p.Ile200Leu)
2g.165131322delCA2739271524SCN2A,SCN3Ac.2437del (p.Ile813LeufsTer7)
c.2488del (p.Ile830LeufsTer7)
c.*329del (n.*329del)
c.586del (p.Ile196LeufsTer7)
c.2350del (p.Ile784LeufsTer7)
c.2341del (p.Ile781LeufsTer7)
c.-125+1118del (n.-125+1118del)
c.-393+1118del (n.-393+1118del)
c.-278+1118del (n.-278+1118del)
c.598del (p.Ile200LeufsTer7)
 ClinVar
2g.165131322T>ACA429884152SCN2A,SCN3Ac.2436A>T (p.Gly812=)
c.2487A>T (p.Gly829=)
c.*328A>T (n.*328A>T)
c.585A>T (p.Gly195=)
c.2349A>T (p.Gly783=)
c.2340A>T (p.Gly780=)
c.-125+1118T>A (n.-125+1118T>A)
c.-393+1118T>A (n.-393+1118T>A)
c.-278+1118T>A (n.-278+1118T>A)
c.597A>T (p.Gly199=)
2g.165131322T>CCA1938948SCN2A,SCN3Ac.2436A>G (p.Gly812=)
c.2487A>G (p.Gly829=)
c.*328A>G (n.*328A>G)
c.585A>G (p.Gly195=)
c.2349A>G (p.Gly783=)
c.2340A>G (p.Gly780=)
c.-125+1118T>C (n.-125+1118T>C)
c.-393+1118T>C (n.-393+1118T>C)
c.-278+1118T>C (n.-278+1118T>C)
c.597A>G (p.Gly199=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.165131322T>GCA429884153SCN2A,SCN3Ac.2436A>C (p.Gly812=)
c.2487A>C (p.Gly829=)
c.*328A>C (n.*328A>C)
c.585A>C (p.Gly195=)
c.2349A>C (p.Gly783=)
c.2340A>C (p.Gly780=)
c.-125+1118T>G (n.-125+1118T>G)
c.-393+1118T>G (n.-393+1118T>G)
c.-278+1118T>G (n.-278+1118T>G)
c.597A>C (p.Gly199=)
2g.165131322T=CA1304452598SCN2A,SCN3Ac.2436A= (p.Gly812=)
c.2487A= (p.Gly829=)
c.*328A= (n.*328A=)
c.585A= (p.Gly195=)
c.2349A= (p.Gly783=)
c.2340A= (p.Gly780=)
c.-125+1118T= (n.-125+1118T=)
c.-393+1118T= (n.-393+1118T=)
c.-278+1118T= (n.-278+1118T=)
c.597A= (p.Gly199=)
2g.165131323C>ACA59735219SCN2A,SCN3Ac.2435G>T (p.Gly812Val)
c.2486G>T (p.Gly829Val)
c.*327G>T (n.*327G>T)
c.584G>T (p.Gly195Val)
c.2348G>T (p.Gly783Val)
c.2339G>T (p.Gly780Val)
c.-125+1119C>A (n.-125+1119C>A)
c.-393+1119C>A (n.-393+1119C>A)
c.-278+1119C>A (n.-278+1119C>A)
c.596G>T (p.Gly199Val)
 ClinVar dbSNP
2g.165131323C=CA1304452599SCN2A,SCN3Ac.2435G= (p.Gly812=)
c.2486G= (p.Gly829=)
c.*327G= (n.*327G=)
c.584G= (p.Gly195=)
c.2348G= (p.Gly783=)
c.2339G= (p.Gly780=)
c.-125+1119C= (n.-125+1119C=)
c.-393+1119C= (n.-393+1119C=)
c.-278+1119C= (n.-278+1119C=)
c.596G= (p.Gly199=)
2g.165131323C>GCA349043211SCN2A,SCN3Ac.2435G>C (p.Gly812Ala)
c.2486G>C (p.Gly829Ala)
c.*327G>C (n.*327G>C)
c.584G>C (p.Gly195Ala)
c.2348G>C (p.Gly783Ala)
c.2339G>C (p.Gly780Ala)
c.-125+1119C>G (n.-125+1119C>G)
c.-393+1119C>G (n.-393+1119C>G)
c.-278+1119C>G (n.-278+1119C>G)
c.596G>C (p.Gly199Ala)
 gnomAD v4
2g.165131323C>TCA349043210SCN2A,SCN3Ac.2435G>A (p.Gly812Glu)
c.2486G>A (p.Gly829Glu)
c.*327G>A (n.*327G>A)
c.584G>A (p.Gly195Glu)
c.2348G>A (p.Gly783Glu)
c.2339G>A (p.Gly780Glu)
c.-125+1119C>T (n.-125+1119C>T)
c.-393+1119C>T (n.-393+1119C>T)
c.-278+1119C>T (n.-278+1119C>T)
c.596G>A (p.Gly199Glu)
2g.165131324C>ACA349043212SCN2A,SCN3Ac.2434G>T (p.Gly812Ter)
c.2485G>T (p.Gly829Ter)
c.*326G>T (n.*326G>T)
c.583G>T (p.Gly195Ter)
c.2347G>T (p.Gly783Ter)
c.2338G>T (p.Gly780Ter)
c.-125+1120C>A (n.-125+1120C>A)
c.-393+1120C>A (n.-393+1120C>A)
c.-278+1120C>A (n.-278+1120C>A)
c.595G>T (p.Gly199Ter)
 dbSNP
2g.165131324C=CA1304452600SCN2A,SCN3Ac.2434G= (p.Gly812=)
c.2485G= (p.Gly829=)
c.*326G= (n.*326G=)
c.583G= (p.Gly195=)
c.2347G= (p.Gly783=)
c.2338G= (p.Gly780=)
c.-125+1120C= (n.-125+1120C=)
c.-393+1120C= (n.-393+1120C=)
c.-278+1120C= (n.-278+1120C=)
c.595G= (p.Gly199=)
2g.165131324C>GCA349043213SCN2A,SCN3Ac.2434G>C (p.Gly812Arg)
c.2485G>C (p.Gly829Arg)
c.*326G>C (n.*326G>C)
c.583G>C (p.Gly195Arg)
c.2347G>C (p.Gly783Arg)
c.2338G>C (p.Gly780Arg)
c.-125+1120C>G (n.-125+1120C>G)
c.-393+1120C>G (n.-393+1120C>G)
c.-278+1120C>G (n.-278+1120C>G)
c.595G>C (p.Gly199Arg)
2g.165131324C>TCA349043214SCN2A,SCN3Ac.2434G>A (p.Gly812Arg)
c.2485G>A (p.Gly829Arg)
c.*326G>A (n.*326G>A)
c.583G>A (p.Gly195Arg)
c.2347G>A (p.Gly783Arg)
c.2338G>A (p.Gly780Arg)
c.-125+1120C>T (n.-125+1120C>T)
c.-393+1120C>T (n.-393+1120C>T)
c.-278+1120C>T (n.-278+1120C>T)
c.595G>A (p.Gly199Arg)
2g.165131325A>CCA349043215SCN2A,SCN3Ac.2433T>G (p.Asp811Glu)
c.2484T>G (p.Asp828Glu)
c.*325T>G (n.*325T>G)
c.582T>G (p.Asp194Glu)
c.2346T>G (p.Asp782Glu)
c.2337T>G (p.Asp779Glu)
c.-125+1121A>C (n.-125+1121A>C)
c.-393+1121A>C (n.-393+1121A>C)
c.-278+1121A>C (n.-278+1121A>C)
c.594T>G (p.Asp198Glu)
2g.165131325A>GCA429884154SCN2A,SCN3Ac.2433T>C (p.Asp811=)
c.2484T>C (p.Asp828=)
c.*325T>C (n.*325T>C)
c.582T>C (p.Asp194=)
c.2346T>C (p.Asp782=)
c.2337T>C (p.Asp779=)
c.-125+1121A>G (n.-125+1121A>G)
c.-393+1121A>G (n.-393+1121A>G)
c.-278+1121A>G (n.-278+1121A>G)
c.594T>C (p.Asp198=)
2g.165131325A>TCA349043216SCN2A,SCN3Ac.2433T>A (p.Asp811Glu)
c.2484T>A (p.Asp828Glu)
c.*325T>A (n.*325T>A)
c.582T>A (p.Asp194Glu)
c.2346T>A (p.Asp782Glu)
c.2337T>A (p.Asp779Glu)
c.-125+1121A>T (n.-125+1121A>T)
c.-393+1121A>T (n.-393+1121A>T)
c.-278+1121A>T (n.-278+1121A>T)
c.594T>A (p.Asp198Glu)
2g.165131326T>ACA349043217SCN2A,SCN3Ac.2432A>T (p.Asp811Val)
c.2483A>T (p.Asp828Val)
c.*324A>T (n.*324A>T)
c.581A>T (p.Asp194Val)
c.2345A>T (p.Asp782Val)
c.2336A>T (p.Asp779Val)
c.-125+1122T>A (n.-125+1122T>A)
c.-393+1122T>A (n.-393+1122T>A)
c.-278+1122T>A (n.-278+1122T>A)
c.593A>T (p.Asp198Val)
2g.165131326T>CCA349043218SCN2A,SCN3Ac.2432A>G (p.Asp811Gly)
c.2483A>G (p.Asp828Gly)
c.*324A>G (n.*324A>G)
c.581A>G (p.Asp194Gly)
c.2345A>G (p.Asp782Gly)
c.2336A>G (p.Asp779Gly)
c.-125+1122T>C (n.-125+1122T>C)
c.-393+1122T>C (n.-393+1122T>C)
c.-278+1122T>C (n.-278+1122T>C)
c.593A>G (p.Asp198Gly)
2g.165131326T>GCA349043219SCN2A,SCN3Ac.2432A>C (p.Asp811Ala)
c.2483A>C (p.Asp828Ala)
c.*324A>C (n.*324A>C)
c.581A>C (p.Asp194Ala)
c.2345A>C (p.Asp782Ala)
c.2336A>C (p.Asp779Ala)
c.-125+1122T>G (n.-125+1122T>G)
c.-393+1122T>G (n.-393+1122T>G)
c.-278+1122T>G (n.-278+1122T>G)
c.593A>C (p.Asp198Ala)
2g.165131327C>ACA349043220SCN2A,SCN3Ac.2431G>T (p.Asp811Tyr)
c.2482G>T (p.Asp828Tyr)
c.*323G>T (n.*323G>T)
c.580G>T (p.Asp194Tyr)
c.2344G>T (p.Asp782Tyr)
c.2335G>T (p.Asp779Tyr)
c.-125+1123C>A (n.-125+1123C>A)
c.-393+1123C>A (n.-393+1123C>A)
c.-278+1123C>A (n.-278+1123C>A)
c.592G>T (p.Asp198Tyr)
 gnomAD v4
2g.165131327C>GCA349043221SCN2A,SCN3Ac.2431G>C (p.Asp811His)
c.2482G>C (p.Asp828His)
c.*323G>C (n.*323G>C)
c.580G>C (p.Asp194His)
c.2344G>C (p.Asp782His)
c.2335G>C (p.Asp779His)
c.-125+1123C>G (n.-125+1123C>G)
c.-393+1123C>G (n.-393+1123C>G)
c.-278+1123C>G (n.-278+1123C>G)
c.592G>C (p.Asp198His)
2g.165131327C>TCA349043222SCN2A,SCN3Ac.2431G>A (p.Asp811Asn)
c.2482G>A (p.Asp828Asn)
c.*323G>A (n.*323G>A)
c.580G>A (p.Asp194Asn)
c.2344G>A (p.Asp782Asn)
c.2335G>A (p.Asp779Asn)
c.-125+1123C>T (n.-125+1123C>T)
c.-393+1123C>T (n.-393+1123C>T)
c.-278+1123C>T (n.-278+1123C>T)
c.592G>A (p.Asp198Asn)
2g.165131328A>CCA349043223SCN2A,SCN3Ac.2430T>G (p.Phe810Leu)
c.2481T>G (p.Phe827Leu)
c.*322T>G (n.*322T>G)
c.579T>G (p.Phe193Leu)
c.2343T>G (p.Phe781Leu)
c.2334T>G (p.Phe778Leu)
c.-125+1124A>C (n.-125+1124A>C)
c.-393+1124A>C (n.-393+1124A>C)
c.-278+1124A>C (n.-278+1124A>C)
c.591T>G (p.Phe197Leu)
2g.165131328A>GCA429884155SCN2A,SCN3Ac.2430T>C (p.Phe810=)
c.2481T>C (p.Phe827=)
c.*322T>C (n.*322T>C)
c.579T>C (p.Phe193=)
c.2343T>C (p.Phe781=)
c.2334T>C (p.Phe778=)
c.-125+1124A>G (n.-125+1124A>G)
c.-393+1124A>G (n.-393+1124A>G)
c.-278+1124A>G (n.-278+1124A>G)
c.591T>C (p.Phe197=)
 ClinVar dbSNP
2g.165131328A>TCA349043224SCN2A,SCN3Ac.2430T>A (p.Phe810Leu)
c.2481T>A (p.Phe827Leu)
c.*322T>A (n.*322T>A)
c.579T>A (p.Phe193Leu)
c.2343T>A (p.Phe781Leu)
c.2334T>A (p.Phe778Leu)
c.-125+1124A>T (n.-125+1124A>T)
c.-393+1124A>T (n.-393+1124A>T)
c.-278+1124A>T (n.-278+1124A>T)
c.591T>A (p.Phe197Leu)
2g.165131329A>CCA349043227SCN2A,SCN3Ac.2429T>G (p.Phe810Cys)
c.2480T>G (p.Phe827Cys)
c.*321T>G (n.*321T>G)
c.578T>G (p.Phe193Cys)
c.2342T>G (p.Phe781Cys)
c.2333T>G (p.Phe778Cys)
c.-125+1125A>C (n.-125+1125A>C)
c.-393+1125A>C (n.-393+1125A>C)
c.-278+1125A>C (n.-278+1125A>C)
c.590T>G (p.Phe197Cys)
2g.165131329A>GCA349043226SCN2A,SCN3Ac.2429T>C (p.Phe810Ser)
c.2480T>C (p.Phe827Ser)
c.*321T>C (n.*321T>C)
c.578T>C (p.Phe193Ser)
c.2342T>C (p.Phe781Ser)
c.2333T>C (p.Phe778Ser)
c.-125+1125A>G (n.-125+1125A>G)
c.-393+1125A>G (n.-393+1125A>G)
c.-278+1125A>G (n.-278+1125A>G)
c.590T>C (p.Phe197Ser)
2g.165131329A>TCA349043225SCN2A,SCN3Ac.2429T>A (p.Phe810Tyr)
c.2480T>A (p.Phe827Tyr)
c.*321T>A (n.*321T>A)
c.578T>A (p.Phe193Tyr)
c.2342T>A (p.Phe781Tyr)
c.2333T>A (p.Phe778Tyr)
c.-125+1125A>T (n.-125+1125A>T)
c.-393+1125A>T (n.-393+1125A>T)
c.-278+1125A>T (n.-278+1125A>T)
c.590T>A (p.Phe197Tyr)
2g.165131330A>CCA349043228SCN2A,SCN3Ac.2428T>G (p.Phe810Val)
c.2479T>G (p.Phe827Val)
c.*320T>G (n.*320T>G)
c.577T>G (p.Phe193Val)
c.2341T>G (p.Phe781Val)
c.2332T>G (p.Phe778Val)
c.-125+1126A>C (n.-125+1126A>C)
c.-393+1126A>C (n.-393+1126A>C)
c.-278+1126A>C (n.-278+1126A>C)
c.589T>G (p.Phe197Val)
2g.165131330A>GCA349043229SCN2A,SCN3Ac.2428T>C (p.Phe810Leu)
c.2479T>C (p.Phe827Leu)
c.*320T>C (n.*320T>C)
c.577T>C (p.Phe193Leu)
c.2341T>C (p.Phe781Leu)
c.2332T>C (p.Phe778Leu)
c.-125+1126A>G (n.-125+1126A>G)
c.-393+1126A>G (n.-393+1126A>G)
c.-278+1126A>G (n.-278+1126A>G)
c.589T>C (p.Phe197Leu)
2g.165131330A>TCA349043230SCN2A,SCN3Ac.2428T>A (p.Phe810Ile)
c.2479T>A (p.Phe827Ile)
c.*320T>A (n.*320T>A)
c.577T>A (p.Phe193Ile)
c.2341T>A (p.Phe781Ile)
c.2332T>A (p.Phe778Ile)
c.-125+1126A>T (n.-125+1126A>T)
c.-393+1126A>T (n.-393+1126A>T)
c.-278+1126A>T (n.-278+1126A>T)
c.589T>A (p.Phe197Ile)
2g.165131331G>ACA429884156SCN2A,SCN3Ac.2427C>T (p.Ile809=)
c.2478C>T (p.Ile826=)
c.*319C>T (n.*319C>T)
c.576C>T (p.Ile192=)
c.2340C>T (p.Ile780=)
c.2331C>T (p.Ile777=)
c.-125+1127G>A (n.-125+1127G>A)
c.-393+1127G>A (n.-393+1127G>A)
c.-278+1127G>A (n.-278+1127G>A)
c.588C>T (p.Ile196=)
2g.165131331G>CCA349043231SCN2A,SCN3Ac.2427C>G (p.Ile809Met)
c.2478C>G (p.Ile826Met)
c.*319C>G (n.*319C>G)
c.576C>G (p.Ile192Met)
c.2340C>G (p.Ile780Met)
c.2331C>G (p.Ile777Met)
c.-125+1127G>C (n.-125+1127G>C)
c.-393+1127G>C (n.-393+1127G>C)
c.-278+1127G>C (n.-278+1127G>C)
c.588C>G (p.Ile196Met)
2g.165131331G>TCA429884157SCN2A,SCN3Ac.2427C>A (p.Ile809=)
c.2478C>A (p.Ile826=)
c.*319C>A (n.*319C>A)
c.576C>A (p.Ile192=)
c.2340C>A (p.Ile780=)
c.2331C>A (p.Ile777=)
c.-125+1127G>T (n.-125+1127G>T)
c.-393+1127G>T (n.-393+1127G>T)
c.-278+1127G>T (n.-278+1127G>T)
c.588C>A (p.Ile196=)
 COSMIC COSMIC
2g.165131332A>CCA349043232SCN2A,SCN3Ac.2426T>G (p.Ile809Ser)
c.2477T>G (p.Ile826Ser)
c.*318T>G (n.*318T>G)
c.575T>G (p.Ile192Ser)
c.2339T>G (p.Ile780Ser)
c.2330T>G (p.Ile777Ser)
c.-125+1128A>C (n.-125+1128A>C)
c.-393+1128A>C (n.-393+1128A>C)
c.-278+1128A>C (n.-278+1128A>C)
c.587T>G (p.Ile196Ser)
2g.165131332A>GCA349043233SCN2A,SCN3Ac.2426T>C (p.Ile809Thr)
c.2477T>C (p.Ile826Thr)
c.*318T>C (n.*318T>C)
c.575T>C (p.Ile192Thr)
c.2339T>C (p.Ile780Thr)
c.2330T>C (p.Ile777Thr)
c.-125+1128A>G (n.-125+1128A>G)
c.-393+1128A>G (n.-393+1128A>G)
c.-278+1128A>G (n.-278+1128A>G)
c.587T>C (p.Ile196Thr)
2g.165131332A>TCA349043234SCN2A,SCN3Ac.2426T>A (p.Ile809Asn)
c.2477T>A (p.Ile826Asn)
c.*318T>A (n.*318T>A)
c.575T>A (p.Ile192Asn)
c.2339T>A (p.Ile780Asn)
c.2330T>A (p.Ile777Asn)
c.-125+1128A>T (n.-125+1128A>T)
c.-393+1128A>T (n.-393+1128A>T)
c.-278+1128A>T (n.-278+1128A>T)
c.587T>A (p.Ile196Asn)
2g.165131333T>ACA349043235SCN2A,SCN3Ac.2425A>T (p.Ile809Phe)
c.2476A>T (p.Ile826Phe)
c.*317A>T (n.*317A>T)
c.574A>T (p.Ile192Phe)
c.2338A>T (p.Ile780Phe)
c.2329A>T (p.Ile777Phe)
c.-125+1129T>A (n.-125+1129T>A)
c.-393+1129T>A (n.-393+1129T>A)
c.-278+1129T>A (n.-278+1129T>A)
c.586A>T (p.Ile196Phe)
2g.165131333T>CCA349043236SCN2A,SCN3Ac.2425A>G (p.Ile809Val)
c.2476A>G (p.Ile826Val)
c.*317A>G (n.*317A>G)
c.574A>G (p.Ile192Val)
c.2338A>G (p.Ile780Val)
c.2329A>G (p.Ile777Val)
c.-125+1129T>C (n.-125+1129T>C)
c.-393+1129T>C (n.-393+1129T>C)
c.-278+1129T>C (n.-278+1129T>C)
c.586A>G (p.Ile196Val)
2g.165131333T>GCA349043237SCN2A,SCN3Ac.2425A>C (p.Ile809Leu)
c.2476A>C (p.Ile826Leu)
c.*317A>C (n.*317A>C)
c.574A>C (p.Ile192Leu)
c.2338A>C (p.Ile780Leu)
c.2329A>C (p.Ile777Leu)
c.-125+1129T>G (n.-125+1129T>G)
c.-393+1129T>G (n.-393+1129T>G)
c.-278+1129T>G (n.-278+1129T>G)
c.586A>C (p.Ile196Leu)
2g.165131334A>CCA349043238SCN2A,SCN3Ac.2424T>G (p.Asn808Lys)
c.2475T>G (p.Asn825Lys)
c.*316T>G (n.*316T>G)
c.573T>G (p.Asn191Lys)
c.2337T>G (p.Asn779Lys)
c.2328T>G (p.Asn776Lys)
c.-125+1130A>C (n.-125+1130A>C)
c.-393+1130A>C (n.-393+1130A>C)
c.-278+1130A>C (n.-278+1130A>C)
c.585T>G (p.Asn195Lys)
2g.165131334A>GCA429884158SCN2A,SCN3Ac.2424T>C (p.Asn808=)
c.2475T>C (p.Asn825=)
c.*316T>C (n.*316T>C)
c.573T>C (p.Asn191=)
c.2337T>C (p.Asn779=)
c.2328T>C (p.Asn776=)
c.-125+1130A>G (n.-125+1130A>G)
c.-393+1130A>G (n.-393+1130A>G)
c.-278+1130A>G (n.-278+1130A>G)
c.585T>C (p.Asn195=)
2g.165131334A>TCA349043239SCN2A,SCN3Ac.2424T>A (p.Asn808Lys)
c.2475T>A (p.Asn825Lys)
c.*316T>A (n.*316T>A)
c.573T>A (p.Asn191Lys)
c.2337T>A (p.Asn779Lys)
c.2328T>A (p.Asn776Lys)
c.-125+1130A>T (n.-125+1130A>T)
c.-393+1130A>T (n.-393+1130A>T)
c.-278+1130A>T (n.-278+1130A>T)
c.585T>A (p.Asn195Lys)
2g.165131335T>ACA349043242SCN2A,SCN3Ac.2423A>T (p.Asn808Ile)
c.2474A>T (p.Asn825Ile)
c.*315A>T (n.*315A>T)
c.572A>T (p.Asn191Ile)
c.2336A>T (p.Asn779Ile)
c.2327A>T (p.Asn776Ile)
c.-125+1131T>A (n.-125+1131T>A)
c.-393+1131T>A (n.-393+1131T>A)
c.-278+1131T>A (n.-278+1131T>A)
c.584A>T (p.Asn195Ile)
2g.165131335T>CCA349043241SCN2A,SCN3Ac.2423A>G (p.Asn808Ser)
c.2474A>G (p.Asn825Ser)
c.*315A>G (n.*315A>G)
c.572A>G (p.Asn191Ser)
c.2336A>G (p.Asn779Ser)
c.2327A>G (p.Asn776Ser)
c.-125+1131T>C (n.-125+1131T>C)
c.-393+1131T>C (n.-393+1131T>C)
c.-278+1131T>C (n.-278+1131T>C)
c.584A>G (p.Asn195Ser)
2g.165131335T>GCA349043240SCN2A,SCN3Ac.2423A>C (p.Asn808Thr)
c.2474A>C (p.Asn825Thr)
c.*315A>C (n.*315A>C)
c.572A>C (p.Asn191Thr)
c.2336A>C (p.Asn779Thr)
c.2327A>C (p.Asn776Thr)
c.-125+1131T>G (n.-125+1131T>G)
c.-393+1131T>G (n.-393+1131T>G)
c.-278+1131T>G (n.-278+1131T>G)
c.584A>C (p.Asn195Thr)
2g.165131336T>ACA349043243SCN2A,SCN3Ac.2422A>T (p.Asn808Tyr)
c.2473A>T (p.Asn825Tyr)
c.*314A>T (n.*314A>T)
c.571A>T (p.Asn191Tyr)
c.2335A>T (p.Asn779Tyr)
c.2326A>T (p.Asn776Tyr)
c.-125+1132T>A (n.-125+1132T>A)
c.-393+1132T>A (n.-393+1132T>A)
c.-278+1132T>A (n.-278+1132T>A)
c.583A>T (p.Asn195Tyr)
2g.165131336T>CCA349043244SCN2A,SCN3Ac.2422A>G (p.Asn808Asp)
c.2473A>G (p.Asn825Asp)
c.*314A>G (n.*314A>G)
c.571A>G (p.Asn191Asp)
c.2335A>G (p.Asn779Asp)
c.2326A>G (p.Asn776Asp)
c.-125+1132T>C (n.-125+1132T>C)
c.-393+1132T>C (n.-393+1132T>C)
c.-278+1132T>C (n.-278+1132T>C)
c.583A>G (p.Asn195Asp)
 gnomAD v4
2g.165131336T>GCA349043245SCN2A,SCN3Ac.2422A>C (p.Asn808His)
c.2473A>C (p.Asn825His)
c.*314A>C (n.*314A>C)
c.571A>C (p.Asn191His)
c.2335A>C (p.Asn779His)
c.2326A>C (p.Asn776His)
c.-125+1132T>G (n.-125+1132T>G)
c.-393+1132T>G (n.-393+1132T>G)
c.-278+1132T>G (n.-278+1132T>G)
c.583A>C (p.Asn195His)
2g.165131337C>ACA349043246SCN2A,SCN3Ac.2421G>T (p.Trp807Cys)
c.2472G>T (p.Trp824Cys)
c.*313G>T (n.*313G>T)
c.570G>T (p.Trp190Cys)
c.2334G>T (p.Trp778Cys)
c.2325G>T (p.Trp775Cys)
c.-125+1133C>A (n.-125+1133C>A)
c.-393+1133C>A (n.-393+1133C>A)
c.-278+1133C>A (n.-278+1133C>A)
c.582G>T (p.Trp194Cys)
2g.165131337C=CA1304452601SCN2A,SCN3Ac.2421G= (p.Trp807=)
c.2472G= (p.Trp824=)
c.*313G= (n.*313G=)
c.570G= (p.Trp190=)
c.2334G= (p.Trp778=)
c.2325G= (p.Trp775=)
c.-125+1133C= (n.-125+1133C=)
c.-393+1133C= (n.-393+1133C=)
c.-278+1133C= (n.-278+1133C=)
c.582G= (p.Trp194=)
2g.165131337C>GCA349043247SCN2A,SCN3Ac.2421G>C (p.Trp807Cys)
c.2472G>C (p.Trp824Cys)
c.*313G>C (n.*313G>C)
c.570G>C (p.Trp190Cys)
c.2334G>C (p.Trp778Cys)
c.2325G>C (p.Trp775Cys)
c.-125+1133C>G (n.-125+1133C>G)
c.-393+1133C>G (n.-393+1133C>G)
c.-278+1133C>G (n.-278+1133C>G)
c.582G>C (p.Trp194Cys)
2g.165131337C>TCA349043248SCN2A,SCN3Ac.2421G>A (p.Trp807Ter)
c.2472G>A (p.Trp824Ter)
c.*313G>A (n.*313G>A)
c.570G>A (p.Trp190Ter)
c.2334G>A (p.Trp778Ter)
c.2325G>A (p.Trp775Ter)
c.-125+1133C>T (n.-125+1133C>T)
c.-393+1133C>T (n.-393+1133C>T)
c.-278+1133C>T (n.-278+1133C>T)
c.582G>A (p.Trp194Ter)
 dbSNP
2g.165131338C>ACA349043249SCN2A,SCN3Ac.2420G>T (p.Trp807Leu)
c.2471G>T (p.Trp824Leu)
c.*312G>T (n.*312G>T)
c.569G>T (p.Trp190Leu)
c.2333G>T (p.Trp778Leu)
c.2324G>T (p.Trp775Leu)
c.-125+1134C>A (n.-125+1134C>A)
c.-393+1134C>A (n.-393+1134C>A)
c.-278+1134C>A (n.-278+1134C>A)
c.581G>T (p.Trp194Leu)
2g.165131338C>GCA349043250SCN2A,SCN3Ac.2420G>C (p.Trp807Ser)
c.2471G>C (p.Trp824Ser)
c.*312G>C (n.*312G>C)
c.569G>C (p.Trp190Ser)
c.2333G>C (p.Trp778Ser)
c.2324G>C (p.Trp775Ser)
c.-125+1134C>G (n.-125+1134C>G)
c.-393+1134C>G (n.-393+1134C>G)
c.-278+1134C>G (n.-278+1134C>G)
c.581G>C (p.Trp194Ser)
2g.165131338C>TCA349043251SCN2A,SCN3Ac.2420G>A (p.Trp807Ter)
c.2471G>A (p.Trp824Ter)
c.*312G>A (n.*312G>A)
c.569G>A (p.Trp190Ter)
c.2333G>A (p.Trp778Ter)
c.2324G>A (p.Trp775Ter)
c.-125+1134C>T (n.-125+1134C>T)
c.-393+1134C>T (n.-393+1134C>T)
c.-278+1134C>T (n.-278+1134C>T)
c.581G>A (p.Trp194Ter)
2g.165131339A>CCA349043252SCN2A,SCN3Ac.2419T>G (p.Trp807Gly)
c.2470T>G (p.Trp824Gly)
c.*311T>G (n.*311T>G)
c.568T>G (p.Trp190Gly)
c.2332T>G (p.Trp778Gly)
c.2323T>G (p.Trp775Gly)
c.-125+1135A>C (n.-125+1135A>C)
c.-393+1135A>C (n.-393+1135A>C)
c.-278+1135A>C (n.-278+1135A>C)
c.580T>G (p.Trp194Gly)
2g.165131339A>GCA349043253SCN2A,SCN3Ac.2419T>C (p.Trp807Arg)
c.2470T>C (p.Trp824Arg)
c.*311T>C (n.*311T>C)
c.568T>C (p.Trp190Arg)
c.2332T>C (p.Trp778Arg)
c.2323T>C (p.Trp775Arg)
c.-125+1135A>G (n.-125+1135A>G)
c.-393+1135A>G (n.-393+1135A>G)
c.-278+1135A>G (n.-278+1135A>G)
c.580T>C (p.Trp194Arg)
 gnomAD v4
2g.165131339A>TCA349043254SCN2A,SCN3Ac.2419T>A (p.Trp807Arg)
c.2470T>A (p.Trp824Arg)
c.*311T>A (n.*311T>A)
c.568T>A (p.Trp190Arg)
c.2332T>A (p.Trp778Arg)
c.2323T>A (p.Trp775Arg)
c.-125+1135A>T (n.-125+1135A>T)
c.-393+1135A>T (n.-393+1135A>T)
c.-278+1135A>T (n.-278+1135A>T)
c.580T>A (p.Trp194Arg)
2g.165131340G>ACA1938949SCN2A,SCN3Ac.2418C>T (p.Gly806=)
c.2469C>T (p.Gly823=)
c.*310C>T (n.*310C>T)
c.567C>T (p.Gly189=)
c.2331C>T (p.Gly777=)
c.2322C>T (p.Gly774=)
c.-125+1136G>A (n.-125+1136G>A)
c.-393+1136G>A (n.-393+1136G>A)
c.-278+1136G>A (n.-278+1136G>A)
c.579C>T (p.Gly193=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.165131340G>CCA429884159SCN2A,SCN3Ac.2418C>G (p.Gly806=)
c.2469C>G (p.Gly823=)
c.*310C>G (n.*310C>G)
c.567C>G (p.Gly189=)
c.2331C>G (p.Gly777=)
c.2322C>G (p.Gly774=)
c.-125+1136G>C (n.-125+1136G>C)
c.-393+1136G>C (n.-393+1136G>C)
c.-278+1136G>C (n.-278+1136G>C)
c.579C>G (p.Gly193=)
2g.165131340G=CA1304452602SCN2A,SCN3Ac.2418C= (p.Gly806=)
c.2469C= (p.Gly823=)
c.*310C= (n.*310C=)
c.567C= (p.Gly189=)
c.2331C= (p.Gly777=)
c.2322C= (p.Gly774=)
c.-125+1136G= (n.-125+1136G=)
c.-393+1136G= (n.-393+1136G=)
c.-278+1136G= (n.-278+1136G=)
c.579C= (p.Gly193=)
2g.165131340G>TCA429884160SCN2A,SCN3Ac.2418C>A (p.Gly806=)
c.2469C>A (p.Gly823=)
c.*310C>A (n.*310C>A)
c.567C>A (p.Gly189=)
c.2331C>A (p.Gly777=)
c.2322C>A (p.Gly774=)
c.-125+1136G>T (n.-125+1136G>T)
c.-393+1136G>T (n.-393+1136G>T)
c.-278+1136G>T (n.-278+1136G>T)
c.579C>A (p.Gly193=)
2g.165131341C>ACA349043257SCN2A,SCN3Ac.2417G>T (p.Gly806Val)
c.2468G>T (p.Gly823Val)
c.*309G>T (n.*309G>T)
c.566G>T (p.Gly189Val)
c.2330G>T (p.Gly777Val)
c.2321G>T (p.Gly774Val)
c.-125+1137C>A (n.-125+1137C>A)
c.-393+1137C>A (n.-393+1137C>A)
c.-278+1137C>A (n.-278+1137C>A)
c.578G>T (p.Gly193Val)
2g.165131341C>GCA349043256SCN2A,SCN3Ac.2417G>C (p.Gly806Ala)
c.2468G>C (p.Gly823Ala)
c.*309G>C (n.*309G>C)
c.566G>C (p.Gly189Ala)
c.2330G>C (p.Gly777Ala)
c.2321G>C (p.Gly774Ala)
c.-125+1137C>G (n.-125+1137C>G)
c.-393+1137C>G (n.-393+1137C>G)
c.-278+1137C>G (n.-278+1137C>G)
c.578G>C (p.Gly193Ala)
2g.165131341C>TCA349043255SCN2A,SCN3Ac.2417G>A (p.Gly806Asp)
c.2468G>A (p.Gly823Asp)
c.*309G>A (n.*309G>A)
c.566G>A (p.Gly189Asp)
c.2330G>A (p.Gly777Asp)
c.2321G>A (p.Gly774Asp)
c.-125+1137C>T (n.-125+1137C>T)
c.-393+1137C>T (n.-393+1137C>T)
c.-278+1137C>T (n.-278+1137C>T)
c.578G>A (p.Gly193Asp)
2g.165131342C>ACA349043258SCN2A,SCN3Ac.2416G>T (p.Gly806Cys)
c.2467G>T (p.Gly823Cys)
c.*308G>T (n.*308G>T)
c.565G>T (p.Gly189Cys)
c.2329G>T (p.Gly777Cys)
c.2320G>T (p.Gly774Cys)
c.-125+1138C>A (n.-125+1138C>A)
c.-393+1138C>A (n.-393+1138C>A)
c.-278+1138C>A (n.-278+1138C>A)
c.577G>T (p.Gly193Cys)
2g.165131342C>GCA349043259SCN2A,SCN3Ac.2416G>C (p.Gly806Arg)
c.2467G>C (p.Gly823Arg)
c.*308G>C (n.*308G>C)
c.565G>C (p.Gly189Arg)
c.2329G>C (p.Gly777Arg)
c.2320G>C (p.Gly774Arg)
c.-125+1138C>G (n.-125+1138C>G)
c.-393+1138C>G (n.-393+1138C>G)
c.-278+1138C>G (n.-278+1138C>G)
c.577G>C (p.Gly193Arg)
2g.165131342C>TCA349043260SCN2A,SCN3Ac.2416G>A (p.Gly806Ser)
c.2467G>A (p.Gly823Ser)
c.*308G>A (n.*308G>A)
c.565G>A (p.Gly189Ser)
c.2329G>A (p.Gly777Ser)
c.2320G>A (p.Gly774Ser)
c.-125+1138C>T (n.-125+1138C>T)
c.-393+1138C>T (n.-393+1138C>T)
c.-278+1138C>T (n.-278+1138C>T)
c.577G>A (p.Gly193Ser)
2g.165131343T>ACA349043261SCN2A,SCN3Ac.2415A>T (p.Glu805Asp)
c.2466A>T (p.Glu822Asp)
c.*307A>T (n.*307A>T)
c.564A>T (p.Glu188Asp)
c.2328A>T (p.Glu776Asp)
c.2319A>T (p.Glu773Asp)
c.-125+1139T>A (n.-125+1139T>A)
c.-393+1139T>A (n.-393+1139T>A)
c.-278+1139T>A (n.-278+1139T>A)
c.576A>T (p.Glu192Asp)
2g.165131343T>CCA429884161SCN2A,SCN3Ac.2415A>G (p.Glu805=)
c.2466A>G (p.Glu822=)
c.*307A>G (n.*307A>G)
c.564A>G (p.Glu188=)
c.2328A>G (p.Glu776=)
c.2319A>G (p.Glu773=)
c.-125+1139T>C (n.-125+1139T>C)
c.-393+1139T>C (n.-393+1139T>C)
c.-278+1139T>C (n.-278+1139T>C)
c.576A>G (p.Glu192=)
 dbSNP
2g.165131343T>GCA349043262SCN2A,SCN3Ac.2415A>C (p.Glu805Asp)
c.2466A>C (p.Glu822Asp)
c.*307A>C (n.*307A>C)
c.564A>C (p.Glu188Asp)
c.2328A>C (p.Glu776Asp)
c.2319A>C (p.Glu773Asp)
c.-125+1139T>G (n.-125+1139T>G)
c.-393+1139T>G (n.-393+1139T>G)
c.-278+1139T>G (n.-278+1139T>G)
c.576A>C (p.Glu192Asp)
2g.165131344T>ACA349043263SCN2A,SCN3Ac.2414A>T (p.Glu805Val)
c.2465A>T (p.Glu822Val)
c.*306A>T (n.*306A>T)
c.563A>T (p.Glu188Val)
c.2327A>T (p.Glu776Val)
c.2318A>T (p.Glu773Val)
c.-125+1140T>A (n.-125+1140T>A)
c.-393+1140T>A (n.-393+1140T>A)
c.-278+1140T>A (n.-278+1140T>A)
c.575A>T (p.Glu192Val)
2g.165131344T>CCA349043264SCN2A,SCN3Ac.2414A>G (p.Glu805Gly)
c.2465A>G (p.Glu822Gly)
c.*306A>G (n.*306A>G)
c.563A>G (p.Glu188Gly)
c.2327A>G (p.Glu776Gly)
c.2318A>G (p.Glu773Gly)
c.-125+1140T>C (n.-125+1140T>C)
c.-393+1140T>C (n.-393+1140T>C)
c.-278+1140T>C (n.-278+1140T>C)
c.575A>G (p.Glu192Gly)
 gnomAD v4
2g.165131344T>GCA349043265SCN2A,SCN3Ac.2414A>C (p.Glu805Ala)
c.2465A>C (p.Glu822Ala)
c.*306A>C (n.*306A>C)
c.563A>C (p.Glu188Ala)
c.2327A>C (p.Glu776Ala)
c.2318A>C (p.Glu773Ala)
c.-125+1140T>G (n.-125+1140T>G)
c.-393+1140T>G (n.-393+1140T>G)
c.-278+1140T>G (n.-278+1140T>G)
c.575A>C (p.Glu192Ala)
2g.165131345C>ACA349043266SCN2A,SCN3Ac.2413G>T (p.Glu805Ter)
c.2464G>T (p.Glu822Ter)
c.*305G>T (n.*305G>T)
c.562G>T (p.Glu188Ter)
c.2326G>T (p.Glu776Ter)
c.2317G>T (p.Glu773Ter)
c.-125+1141C>A (n.-125+1141C>A)
c.-393+1141C>A (n.-393+1141C>A)
c.-278+1141C>A (n.-278+1141C>A)
c.574G>T (p.Glu192Ter)
 dbSNP
2g.165131345C=CA1304452603SCN2A,SCN3Ac.2413G= (p.Glu805=)
c.2464G= (p.Glu822=)
c.*305G= (n.*305G=)
c.562G= (p.Glu188=)
c.2326G= (p.Glu776=)
c.2317G= (p.Glu773=)
c.-125+1141C= (n.-125+1141C=)
c.-393+1141C= (n.-393+1141C=)
c.-278+1141C= (n.-278+1141C=)
c.574G= (p.Glu192=)
2g.165131345C>GCA349043267SCN2A,SCN3Ac.2413G>C (p.Glu805Gln)
c.2464G>C (p.Glu822Gln)
c.*305G>C (n.*305G>C)
c.562G>C (p.Glu188Gln)
c.2326G>C (p.Glu776Gln)
c.2317G>C (p.Glu773Gln)
c.-125+1141C>G (n.-125+1141C>G)
c.-393+1141C>G (n.-393+1141C>G)
c.-278+1141C>G (n.-278+1141C>G)
c.574G>C (p.Glu192Gln)
 dbSNP gnomAD v2 gnomAD v4
2g.165131345C>TCA349043268SCN2A,SCN3Ac.2413G>A (p.Glu805Lys)
c.2464G>A (p.Glu822Lys)
c.*305G>A (n.*305G>A)
c.562G>A (p.Glu188Lys)
c.2326G>A (p.Glu776Lys)
c.2317G>A (p.Glu773Lys)
c.-125+1141C>T (n.-125+1141C>T)
c.-393+1141C>T (n.-393+1141C>T)
c.-278+1141C>T (n.-278+1141C>T)
c.574G>A (p.Glu192Lys)
2g.165131346T>ACA349043269SCN2A,SCN3Ac.2412A>T (p.Gln804His)
c.2463A>T (p.Gln821His)
c.*304A>T (n.*304A>T)
c.561A>T (p.Gln187His)
c.2325A>T (p.Gln775His)
c.2316A>T (p.Gln772His)
c.-125+1142T>A (n.-125+1142T>A)
c.-393+1142T>A (n.-393+1142T>A)
c.-278+1142T>A (n.-278+1142T>A)
c.573A>T (p.Gln191His)
2g.165131346T>CCA429884162SCN2A,SCN3Ac.2412A>G (p.Gln804=)
c.2463A>G (p.Gln821=)
c.*304A>G (n.*304A>G)
c.561A>G (p.Gln187=)
c.2325A>G (p.Gln775=)
c.2316A>G (p.Gln772=)
c.-125+1142T>C (n.-125+1142T>C)
c.-393+1142T>C (n.-393+1142T>C)
c.-278+1142T>C (n.-278+1142T>C)
c.573A>G (p.Gln191=)
 ClinVar
2g.165131346T>GCA349043270SCN2A,SCN3Ac.2412A>C (p.Gln804His)
c.2463A>C (p.Gln821His)
c.*304A>C (n.*304A>C)
c.561A>C (p.Gln187His)
c.2325A>C (p.Gln775His)
c.2316A>C (p.Gln772His)
c.-125+1142T>G (n.-125+1142T>G)
c.-393+1142T>G (n.-393+1142T>G)
c.-278+1142T>G (n.-278+1142T>G)
c.573A>C (p.Gln191His)
2g.165131347T>ACA349043272SCN2A,SCN3Ac.2411A>T (p.Gln804Leu)
c.2462A>T (p.Gln821Leu)
c.*303A>T (n.*303A>T)
c.560A>T (p.Gln187Leu)
c.2324A>T (p.Gln775Leu)
c.2315A>T (p.Gln772Leu)
c.-125+1143T>A (n.-125+1143T>A)
c.-393+1143T>A (n.-393+1143T>A)
c.-278+1143T>A (n.-278+1143T>A)
c.572A>T (p.Gln191Leu)
 dbSNP
2g.165131347T>CCA349043273SCN2A,SCN3Ac.2411A>G (p.Gln804Arg)
c.2462A>G (p.Gln821Arg)
c.*303A>G (n.*303A>G)
c.560A>G (p.Gln187Arg)
c.2324A>G (p.Gln775Arg)
c.2315A>G (p.Gln772Arg)
c.-125+1143T>C (n.-125+1143T>C)
c.-393+1143T>C (n.-393+1143T>C)
c.-278+1143T>C (n.-278+1143T>C)
c.572A>G (p.Gln191Arg)
2g.165131347T>GCA349043271SCN2A,SCN3Ac.2411A>C (p.Gln804Pro)
c.2462A>C (p.Gln821Pro)
c.*303A>C (n.*303A>C)
c.560A>C (p.Gln187Pro)
c.2324A>C (p.Gln775Pro)
c.2315A>C (p.Gln772Pro)
c.-125+1143T>G (n.-125+1143T>G)
c.-393+1143T>G (n.-393+1143T>G)
c.-278+1143T>G (n.-278+1143T>G)
c.572A>C (p.Gln191Pro)
2g.165131347T=CA1304452604SCN2A,SCN3Ac.2411A= (p.Gln804=)
c.2462A= (p.Gln821=)
c.*303A= (n.*303A=)
c.560A= (p.Gln187=)
c.2324A= (p.Gln775=)
c.2315A= (p.Gln772=)
c.-125+1143T= (n.-125+1143T=)
c.-393+1143T= (n.-393+1143T=)
c.-278+1143T= (n.-278+1143T=)
c.572A= (p.Gln191=)
2g.165131348G>ACA349043274SCN2A,SCN3Ac.2410C>T (p.Gln804Ter)
c.2461C>T (p.Gln821Ter)
c.*302C>T (n.*302C>T)
c.559C>T (p.Gln187Ter)
c.2323C>T (p.Gln775Ter)
c.2314C>T (p.Gln772Ter)
c.-125+1144G>A (n.-125+1144G>A)
c.-393+1144G>A (n.-393+1144G>A)
c.-278+1144G>A (n.-278+1144G>A)
c.571C>T (p.Gln191Ter)
 gnomAD v4
2g.165131348G>CCA1938950SCN2A,SCN3Ac.2410C>G (p.Gln804Glu)
c.2461C>G (p.Gln821Glu)
c.*302C>G (n.*302C>G)
c.559C>G (p.Gln187Glu)
c.2323C>G (p.Gln775Glu)
c.2314C>G (p.Gln772Glu)
c.-125+1144G>C (n.-125+1144G>C)
c.-393+1144G>C (n.-393+1144G>C)
c.-278+1144G>C (n.-278+1144G>C)
c.571C>G (p.Gln191Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.165131348G=CA1304452605SCN2A,SCN3Ac.2410C= (p.Gln804=)
c.2461C= (p.Gln821=)
c.*302C= (n.*302C=)
c.559C= (p.Gln187=)
c.2323C= (p.Gln775=)
c.2314C= (p.Gln772=)
c.-125+1144G= (n.-125+1144G=)
c.-393+1144G= (n.-393+1144G=)
c.-278+1144G= (n.-278+1144G=)
c.571C= (p.Gln191=)
2g.165131348G>TCA349043275SCN2A,SCN3Ac.2410C>A (p.Gln804Lys)
c.2461C>A (p.Gln821Lys)
c.*302C>A (n.*302C>A)
c.559C>A (p.Gln187Lys)
c.2323C>A (p.Gln775Lys)
c.2314C>A (p.Gln772Lys)
c.-125+1144G>T (n.-125+1144G>T)
c.-393+1144G>T (n.-393+1144G>T)
c.-278+1144G>T (n.-278+1144G>T)
c.571C>A (p.Gln191Lys)
2g.165131349G>ACA429884163SCN2A,SCN3Ac.2409C>T (p.Phe803=)
c.2460C>T (p.Phe820=)
c.*301C>T (n.*301C>T)
c.558C>T (p.Phe186=)
c.2322C>T (p.Phe774=)
c.2313C>T (p.Phe771=)
c.-125+1145G>A (n.-125+1145G>A)
c.-393+1145G>A (n.-393+1145G>A)
c.-278+1145G>A (n.-278+1145G>A)
c.570C>T (p.Phe190=)
2g.165131349G>CCA349043276SCN2A,SCN3Ac.2409C>G (p.Phe803Leu)
c.2460C>G (p.Phe820Leu)
c.*301C>G (n.*301C>G)
c.558C>G (p.Phe186Leu)
c.2322C>G (p.Phe774Leu)
c.2313C>G (p.Phe771Leu)
c.-125+1145G>C (n.-125+1145G>C)
c.-393+1145G>C (n.-393+1145G>C)
c.-278+1145G>C (n.-278+1145G>C)
c.570C>G (p.Phe190Leu)
2g.165131349G>TCA349043277SCN2A,SCN3Ac.2409C>A (p.Phe803Leu)
c.2460C>A (p.Phe820Leu)
c.*301C>A (n.*301C>A)
c.558C>A (p.Phe186Leu)
c.2322C>A (p.Phe774Leu)
c.2313C>A (p.Phe771Leu)
c.-125+1145G>T (n.-125+1145G>T)
c.-393+1145G>T (n.-393+1145G>T)
c.-278+1145G>T (n.-278+1145G>T)
c.570C>A (p.Phe190Leu)
2g.165131350A>CCA349043278SCN2A,SCN3Ac.2408T>G (p.Phe803Cys)
c.2459T>G (p.Phe820Cys)
c.*300T>G (n.*300T>G)
c.557T>G (p.Phe186Cys)
c.2321T>G (p.Phe774Cys)
c.2312T>G (p.Phe771Cys)
c.-125+1146A>C (n.-125+1146A>C)
c.-393+1146A>C (n.-393+1146A>C)
c.-278+1146A>C (n.-278+1146A>C)
c.569T>G (p.Phe190Cys)
 gnomAD v4
2g.165131350A>GCA349043279SCN2A,SCN3Ac.2408T>C (p.Phe803Ser)
c.2459T>C (p.Phe820Ser)
c.*300T>C (n.*300T>C)
c.557T>C (p.Phe186Ser)
c.2321T>C (p.Phe774Ser)
c.2312T>C (p.Phe771Ser)
c.-125+1146A>G (n.-125+1146A>G)
c.-393+1146A>G (n.-393+1146A>G)
c.-278+1146A>G (n.-278+1146A>G)
c.569T>C (p.Phe190Ser)
2g.165131350A>TCA349043280SCN2A,SCN3Ac.2408T>A (p.Phe803Tyr)
c.2459T>A (p.Phe820Tyr)
c.*300T>A (n.*300T>A)
c.557T>A (p.Phe186Tyr)
c.2321T>A (p.Phe774Tyr)
c.2312T>A (p.Phe771Tyr)
c.-125+1146A>T (n.-125+1146A>T)
c.-393+1146A>T (n.-393+1146A>T)
c.-278+1146A>T (n.-278+1146A>T)
c.569T>A (p.Phe190Tyr)
2g.165131351A>CCA349043281SCN2A,SCN3Ac.2407T>G (p.Phe803Val)
c.2458T>G (p.Phe820Val)
c.*299T>G (n.*299T>G)
c.556T>G (p.Phe186Val)
c.2320T>G (p.Phe774Val)
c.2311T>G (p.Phe771Val)
c.-125+1147A>C (n.-125+1147A>C)
c.-393+1147A>C (n.-393+1147A>C)
c.-278+1147A>C (n.-278+1147A>C)
c.568T>G (p.Phe190Val)
 COSMIC COSMIC
2g.165131351A>GCA349043282SCN2A,SCN3Ac.2407T>C (p.Phe803Leu)
c.2458T>C (p.Phe820Leu)
c.*299T>C (n.*299T>C)
c.556T>C (p.Phe186Leu)
c.2320T>C (p.Phe774Leu)
c.2311T>C (p.Phe771Leu)
c.-125+1147A>G (n.-125+1147A>G)
c.-393+1147A>G (n.-393+1147A>G)
c.-278+1147A>G (n.-278+1147A>G)
c.568T>C (p.Phe190Leu)
 gnomAD v4
2g.165131351A>TCA349043283SCN2A,SCN3Ac.2407T>A (p.Phe803Ile)
c.2458T>A (p.Phe820Ile)
c.*299T>A (n.*299T>A)
c.556T>A (p.Phe186Ile)
c.2320T>A (p.Phe774Ile)
c.2311T>A (p.Phe771Ile)
c.-125+1147A>T (n.-125+1147A>T)
c.-393+1147A>T (n.-393+1147A>T)
c.-278+1147A>T (n.-278+1147A>T)
c.568T>A (p.Phe190Ile)
2g.165131352A=CA1304452606SCN2A,SCN3Ac.2406T= (p.Tyr802=)
c.2457T= (p.Tyr819=)
c.*298T= (n.*298T=)
c.555T= (p.Tyr185=)
c.2319T= (p.Tyr773=)
c.2310T= (p.Tyr770=)
c.-125+1148A= (n.-125+1148A=)
c.-393+1148A= (n.-393+1148A=)
c.-278+1148A= (n.-278+1148A=)
c.567T= (p.Tyr189=)
2g.165131352A>CCA349043284SCN2A,SCN3Ac.2406T>G (p.Tyr802Ter)
c.2457T>G (p.Tyr819Ter)
c.*298T>G (n.*298T>G)
c.555T>G (p.Tyr185Ter)
c.2319T>G (p.Tyr773Ter)
c.2310T>G (p.Tyr770Ter)
c.-125+1148A>C (n.-125+1148A>C)
c.-393+1148A>C (n.-393+1148A>C)
c.-278+1148A>C (n.-278+1148A>C)
c.567T>G (p.Tyr189Ter)
2g.165131352A>GCA429884164SCN2A,SCN3Ac.2406T>C (p.Tyr802=)
c.2457T>C (p.Tyr819=)
c.*298T>C (n.*298T>C)
c.555T>C (p.Tyr185=)
c.2319T>C (p.Tyr773=)
c.2310T>C (p.Tyr770=)
c.-125+1148A>G (n.-125+1148A>G)
c.-393+1148A>G (n.-393+1148A>G)
c.-278+1148A>G (n.-278+1148A>G)
c.567T>C (p.Tyr189=)
 dbSNP
2g.165131352A>TCA349043285SCN2A,SCN3Ac.2406T>A (p.Tyr802Ter)
c.2457T>A (p.Tyr819Ter)
c.*298T>A (n.*298T>A)
c.555T>A (p.Tyr185Ter)
c.2319T>A (p.Tyr773Ter)
c.2310T>A (p.Tyr770Ter)
c.-125+1148A>T (n.-125+1148A>T)
c.-393+1148A>T (n.-393+1148A>T)
c.-278+1148A>T (n.-278+1148A>T)
c.567T>A (p.Tyr189Ter)
2g.165131353T>ACA349043286SCN2A,SCN3Ac.2405A>T (p.Tyr802Phe)
c.2456A>T (p.Tyr819Phe)
c.*297A>T (n.*297A>T)
c.554A>T (p.Tyr185Phe)
c.2318A>T (p.Tyr773Phe)
c.2309A>T (p.Tyr770Phe)
c.-125+1149T>A (n.-125+1149T>A)
c.-393+1149T>A (n.-393+1149T>A)
c.-278+1149T>A (n.-278+1149T>A)
c.566A>T (p.Tyr189Phe)
2g.165131353T>CCA349043288SCN2A,SCN3Ac.2405A>G (p.Tyr802Cys)
c.2456A>G (p.Tyr819Cys)
c.*297A>G (n.*297A>G)
c.554A>G (p.Tyr185Cys)
c.2318A>G (p.Tyr773Cys)
c.2309A>G (p.Tyr770Cys)
c.-125+1149T>C (n.-125+1149T>C)
c.-393+1149T>C (n.-393+1149T>C)
c.-278+1149T>C (n.-278+1149T>C)
c.566A>G (p.Tyr189Cys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.165131353T>GCA349043287SCN2A,SCN3Ac.2405A>C (p.Tyr802Ser)
c.2456A>C (p.Tyr819Ser)
c.*297A>C (n.*297A>C)
c.554A>C (p.Tyr185Ser)
c.2318A>C (p.Tyr773Ser)
c.2309A>C (p.Tyr770Ser)
c.-125+1149T>G (n.-125+1149T>G)
c.-393+1149T>G (n.-393+1149T>G)
c.-278+1149T>G (n.-278+1149T>G)
c.566A>C (p.Tyr189Ser)
2g.165131353T=CA1304452607SCN2A,SCN3Ac.2405A= (p.Tyr802=)
c.2456A= (p.Tyr819=)
c.*297A= (n.*297A=)
c.554A= (p.Tyr185=)
c.2318A= (p.Tyr773=)
c.2309A= (p.Tyr770=)
c.-125+1149T= (n.-125+1149T=)
c.-393+1149T= (n.-393+1149T=)
c.-278+1149T= (n.-278+1149T=)
c.566A= (p.Tyr189=)
2g.165131354A>CCA349043289SCN2A,SCN3Ac.2404T>G (p.Tyr802Asp)
c.2455T>G (p.Tyr819Asp)
c.*296T>G (n.*296T>G)
c.553T>G (p.Tyr185Asp)
c.2317T>G (p.Tyr773Asp)
c.2308T>G (p.Tyr770Asp)
c.-125+1150A>C (n.-125+1150A>C)
c.-393+1150A>C (n.-393+1150A>C)
c.-278+1150A>C (n.-278+1150A>C)
c.565T>G (p.Tyr189Asp)
2g.165131354A>GCA349043290SCN2A,SCN3Ac.2404T>C (p.Tyr802His)
c.2455T>C (p.Tyr819His)
c.*296T>C (n.*296T>C)
c.553T>C (p.Tyr185His)
c.2317T>C (p.Tyr773His)
c.2308T>C (p.Tyr770His)
c.-125+1150A>G (n.-125+1150A>G)
c.-393+1150A>G (n.-393+1150A>G)
c.-278+1150A>G (n.-278+1150A>G)
c.565T>C (p.Tyr189His)
2g.165131354A>TCA349043291SCN2A,SCN3Ac.2404T>A (p.Tyr802Asn)
c.2455T>A (p.Tyr819Asn)
c.*296T>A (n.*296T>A)
c.553T>A (p.Tyr185Asn)
c.2317T>A (p.Tyr773Asn)
c.2308T>A (p.Tyr770Asn)
c.-125+1150A>T (n.-125+1150A>T)
c.-393+1150A>T (n.-393+1150A>T)
c.-278+1150A>T (n.-278+1150A>T)
c.565T>A (p.Tyr189Asn)
2g.165131355G>ACA429884165SCN2A,SCN3Ac.2403C>T (p.Tyr801=)
c.2454C>T (p.Tyr818=)
c.*295C>T (n.*295C>T)
c.552C>T (p.Tyr184=)
c.2316C>T (p.Tyr772=)
c.2307C>T (p.Tyr769=)
c.-125+1151G>A (n.-125+1151G>A)
c.-393+1151G>A (n.-393+1151G>A)
c.-278+1151G>A (n.-278+1151G>A)
c.564C>T (p.Tyr188=)
2g.165131355G>CCA349043292SCN2A,SCN3Ac.2403C>G (p.Tyr801Ter)
c.2454C>G (p.Tyr818Ter)
c.*295C>G (n.*295C>G)
c.552C>G (p.Tyr184Ter)
c.2316C>G (p.Tyr772Ter)
c.2307C>G (p.Tyr769Ter)
c.-125+1151G>C (n.-125+1151G>C)
c.-393+1151G>C (n.-393+1151G>C)
c.-278+1151G>C (n.-278+1151G>C)
c.564C>G (p.Tyr188Ter)
2g.165131355G>TCA349043293SCN2A,SCN3Ac.2403C>A (p.Tyr801Ter)
c.2454C>A (p.Tyr818Ter)
c.*295C>A (n.*295C>A)
c.552C>A (p.Tyr184Ter)
c.2316C>A (p.Tyr772Ter)
c.2307C>A (p.Tyr769Ter)
c.-125+1151G>T (n.-125+1151G>T)
c.-393+1151G>T (n.-393+1151G>T)
c.-278+1151G>T (n.-278+1151G>T)
c.564C>A (p.Tyr188Ter)
2g.165131356T>ACA349043294SCN2A,SCN3Ac.2402A>T (p.Tyr801Phe)
c.2453A>T (p.Tyr818Phe)
c.*294A>T (n.*294A>T)
c.551A>T (p.Tyr184Phe)
c.2315A>T (p.Tyr772Phe)
c.2306A>T (p.Tyr769Phe)
c.-125+1152T>A (n.-125+1152T>A)
c.-393+1152T>A (n.-393+1152T>A)
c.-278+1152T>A (n.-278+1152T>A)
c.563A>T (p.Tyr188Phe)
2g.165131356T>CCA349043295SCN2A,SCN3Ac.2402A>G (p.Tyr801Cys)
c.2453A>G (p.Tyr818Cys)
c.*294A>G (n.*294A>G)
c.551A>G (p.Tyr184Cys)
c.2315A>G (p.Tyr772Cys)
c.2306A>G (p.Tyr769Cys)
c.-125+1152T>C (n.-125+1152T>C)
c.-393+1152T>C (n.-393+1152T>C)
c.-278+1152T>C (n.-278+1152T>C)
c.563A>G (p.Tyr188Cys)
2g.165131356T>GCA349043296SCN2A,SCN3Ac.2402A>C (p.Tyr801Ser)
c.2453A>C (p.Tyr818Ser)
c.*294A>C (n.*294A>C)
c.551A>C (p.Tyr184Ser)
c.2315A>C (p.Tyr772Ser)
c.2306A>C (p.Tyr769Ser)
c.-125+1152T>G (n.-125+1152T>G)
c.-393+1152T>G (n.-393+1152T>G)
c.-278+1152T>G (n.-278+1152T>G)
c.563A>C (p.Tyr188Ser)
2g.165131357A>CCA349043297SCN2A,SCN3Ac.2401T>G (p.Tyr801Asp)
c.2452T>G (p.Tyr818Asp)
c.*293T>G (n.*293T>G)
c.550T>G (p.Tyr184Asp)
c.2314T>G (p.Tyr772Asp)
c.2305T>G (p.Tyr769Asp)
c.-125+1153A>C (n.-125+1153A>C)
c.-393+1153A>C (n.-393+1153A>C)
c.-278+1153A>C (n.-278+1153A>C)
c.562T>G (p.Tyr188Asp)
2g.165131357A>GCA349043299SCN2A,SCN3Ac.2401T>C (p.Tyr801His)
c.2452T>C (p.Tyr818His)
c.*293T>C (n.*293T>C)
c.550T>C (p.Tyr184His)
c.2314T>C (p.Tyr772His)
c.2305T>C (p.Tyr769His)
c.-125+1153A>G (n.-125+1153A>G)
c.-393+1153A>G (n.-393+1153A>G)
c.-278+1153A>G (n.-278+1153A>G)
c.562T>C (p.Tyr188His)
 gnomAD v4
2g.165131357A>TCA349043301SCN2A,SCN3Ac.2401T>A (p.Tyr801Asn)
c.2452T>A (p.Tyr818Asn)
c.*293T>A (n.*293T>A)
c.550T>A (p.Tyr184Asn)
c.2314T>A (p.Tyr772Asn)
c.2305T>A (p.Tyr769Asn)
c.-125+1153A>T (n.-125+1153A>T)
c.-393+1153A>T (n.-393+1153A>T)
c.-278+1153A>T (n.-278+1153A>T)
c.562T>A (p.Tyr188Asn)
2g.165131358A>CCA349043304SCN2A,SCN3Ac.2400T>G (p.Tyr800Ter)
c.2451T>G (p.Tyr817Ter)
c.*292T>G (n.*292T>G)
c.549T>G (p.Tyr183Ter)
c.2313T>G (p.Tyr771Ter)
c.2304T>G (p.Tyr768Ter)
c.-125+1154A>C (n.-125+1154A>C)
c.-393+1154A>C (n.-393+1154A>C)
c.-278+1154A>C (n.-278+1154A>C)
c.561T>G (p.Tyr187Ter)
2g.165131358A>GCA429884166SCN2A,SCN3Ac.2400T>C (p.Tyr800=)
c.2451T>C (p.Tyr817=)
c.*292T>C (n.*292T>C)
c.549T>C (p.Tyr183=)
c.2313T>C (p.Tyr771=)
c.2304T>C (p.Tyr768=)
c.-125+1154A>G (n.-125+1154A>G)
c.-393+1154A>G (n.-393+1154A>G)
c.-278+1154A>G (n.-278+1154A>G)
c.561T>C (p.Tyr187=)
 gnomAD v4
2g.165131358A>TCA349043303SCN2A,SCN3Ac.2400T>A (p.Tyr800Ter)
c.2451T>A (p.Tyr817Ter)
c.*292T>A (n.*292T>A)
c.549T>A (p.Tyr183Ter)
c.2313T>A (p.Tyr771Ter)
c.2304T>A (p.Tyr768Ter)
c.-125+1154A>T (n.-125+1154A>T)
c.-393+1154A>T (n.-393+1154A>T)
c.-278+1154A>T (n.-278+1154A>T)
c.561T>A (p.Tyr187Ter)
2g.165131359T>ACA349043307SCN2A,SCN3Ac.2399A>T (p.Tyr800Phe)
c.2450A>T (p.Tyr817Phe)
c.*291A>T (n.*291A>T)
c.548A>T (p.Tyr183Phe)
c.2312A>T (p.Tyr771Phe)
c.2303A>T (p.Tyr768Phe)
c.-125+1155T>A (n.-125+1155T>A)
c.-393+1155T>A (n.-393+1155T>A)
c.-278+1155T>A (n.-278+1155T>A)
c.560A>T (p.Tyr187Phe)
2g.165131359T>CCA349043310SCN2A,SCN3Ac.2399A>G (p.Tyr800Cys)
c.2450A>G (p.Tyr817Cys)
c.*291A>G (n.*291A>G)
c.548A>G (p.Tyr183Cys)
c.2312A>G (p.Tyr771Cys)
c.2303A>G (p.Tyr768Cys)
c.-125+1155T>C (n.-125+1155T>C)
c.-393+1155T>C (n.-393+1155T>C)
c.-278+1155T>C (n.-278+1155T>C)
c.560A>G (p.Tyr187Cys)
2g.165131359T>GCA349043309SCN2A,SCN3Ac.2399A>C (p.Tyr800Ser)
c.2450A>C (p.Tyr817Ser)
c.*291A>C (n.*291A>C)
c.548A>C (p.Tyr183Ser)
c.2312A>C (p.Tyr771Ser)
c.2303A>C (p.Tyr768Ser)
c.-125+1155T>G (n.-125+1155T>G)
c.-393+1155T>G (n.-393+1155T>G)
c.-278+1155T>G (n.-278+1155T>G)
c.560A>C (p.Tyr187Ser)
2g.165131360A=CA1304452608SCN2A,SCN3Ac.2398T= (p.Tyr800=)
c.2449T= (p.Tyr817=)
c.*290T= (n.*290T=)
c.547T= (p.Tyr183=)
c.2311T= (p.Tyr771=)
c.2302T= (p.Tyr768=)
c.-125+1156A= (n.-125+1156A=)
c.-393+1156A= (n.-393+1156A=)
c.-278+1156A= (n.-278+1156A=)
c.559T= (p.Tyr187=)
2g.165131360A>CCA349043313SCN2A,SCN3Ac.2398T>G (p.Tyr800Asp)
c.2449T>G (p.Tyr817Asp)
c.*290T>G (n.*290T>G)
c.547T>G (p.Tyr183Asp)
c.2311T>G (p.Tyr771Asp)
c.2302T>G (p.Tyr768Asp)
c.-125+1156A>C (n.-125+1156A>C)
c.-393+1156A>C (n.-393+1156A>C)
c.-278+1156A>C (n.-278+1156A>C)
c.559T>G (p.Tyr187Asp)
2g.165131360A>GCA1938951SCN2A,SCN3Ac.2398T>C (p.Tyr800His)
c.2449T>C (p.Tyr817His)
c.*290T>C (n.*290T>C)
c.547T>C (p.Tyr183His)
c.2311T>C (p.Tyr771His)
c.2302T>C (p.Tyr768His)
c.-125+1156A>G (n.-125+1156A>G)
c.-393+1156A>G (n.-393+1156A>G)
c.-278+1156A>G (n.-278+1156A>G)
c.559T>C (p.Tyr187His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165131360A>TCA349043316SCN2A,SCN3Ac.2398T>A (p.Tyr800Asn)
c.2449T>A (p.Tyr817Asn)
c.*290T>A (n.*290T>A)
c.547T>A (p.Tyr183Asn)
c.2311T>A (p.Tyr771Asn)
c.2302T>A (p.Tyr768Asn)
c.-125+1156A>T (n.-125+1156A>T)
c.-393+1156A>T (n.-393+1156A>T)
c.-278+1156A>T (n.-278+1156A>T)
c.559T>A (p.Tyr187Asn)
2g.165131361A>CCA429884169SCN2A,SCN3Ac.2397T>G (p.Pro799=)
c.2448T>G (p.Pro816=)
c.*289T>G (n.*289T>G)
c.546T>G (p.Pro182=)
c.2310T>G (p.Pro770=)
c.2301T>G (p.Pro767=)
c.-125+1157A>C (n.-125+1157A>C)
c.-393+1157A>C (n.-393+1157A>C)
c.-278+1157A>C (n.-278+1157A>C)
c.558T>G (p.Pro186=)
2g.165131361A>GCA429884167SCN2A,SCN3Ac.2397T>C (p.Pro799=)
c.2448T>C (p.Pro816=)
c.*289T>C (n.*289T>C)
c.546T>C (p.Pro182=)
c.2310T>C (p.Pro770=)
c.2301T>C (p.Pro767=)
c.-125+1157A>G (n.-125+1157A>G)
c.-393+1157A>G (n.-393+1157A>G)
c.-278+1157A>G (n.-278+1157A>G)
c.558T>C (p.Pro186=)
 gnomAD v4
2g.165131361A>TCA429884168SCN2A,SCN3Ac.2397T>A (p.Pro799=)
c.2448T>A (p.Pro816=)
c.*289T>A (n.*289T>A)
c.546T>A (p.Pro182=)
c.2310T>A (p.Pro770=)
c.2301T>A (p.Pro767=)
c.-125+1157A>T (n.-125+1157A>T)
c.-393+1157A>T (n.-393+1157A>T)
c.-278+1157A>T (n.-278+1157A>T)
c.558T>A (p.Pro186=)
2g.165131362G>ACA349043318SCN2A,SCN3Ac.2396C>T (p.Pro799Leu)
c.2447C>T (p.Pro816Leu)
c.*288C>T (n.*288C>T)
c.545C>T (p.Pro182Leu)
c.2309C>T (p.Pro770Leu)
c.2300C>T (p.Pro767Leu)
c.-125+1158G>A (n.-125+1158G>A)
c.-393+1158G>A (n.-393+1158G>A)
c.-278+1158G>A (n.-278+1158G>A)
c.557C>T (p.Pro186Leu)
 gnomAD v4
2g.165131362G>CCA349043320SCN2A,SCN3Ac.2396C>G (p.Pro799Arg)
c.2447C>G (p.Pro816Arg)
c.*288C>G (n.*288C>G)
c.545C>G (p.Pro182Arg)
c.2309C>G (p.Pro770Arg)
c.2300C>G (p.Pro767Arg)
c.-125+1158G>C (n.-125+1158G>C)
c.-393+1158G>C (n.-393+1158G>C)
c.-278+1158G>C (n.-278+1158G>C)
c.557C>G (p.Pro186Arg)
2g.165131362G>TCA349043321SCN2A,SCN3Ac.2396C>A (p.Pro799His)
c.2447C>A (p.Pro816His)
c.*288C>A (n.*288C>A)
c.545C>A (p.Pro182His)
c.2309C>A (p.Pro770His)
c.2300C>A (p.Pro767His)
c.-125+1158G>T (n.-125+1158G>T)
c.-393+1158G>T (n.-393+1158G>T)
c.-278+1158G>T (n.-278+1158G>T)
c.557C>A (p.Pro186His)
2g.165131363G>ACA349043327SCN2A,SCN3Ac.2395C>T (p.Pro799Ser)
c.2446C>T (p.Pro816Ser)
c.*287C>T (n.*287C>T)
c.544C>T (p.Pro182Ser)
c.2308C>T (p.Pro770Ser)
c.2299C>T (p.Pro767Ser)
c.-125+1159G>A (n.-125+1159G>A)
c.-393+1159G>A (n.-393+1159G>A)
c.-278+1159G>A (n.-278+1159G>A)
c.556C>T (p.Pro186Ser)
2g.165131363G>CCA349043324SCN2A,SCN3Ac.2395C>G (p.Pro799Ala)
c.2446C>G (p.Pro816Ala)
c.*287C>G (n.*287C>G)
c.544C>G (p.Pro182Ala)
c.2308C>G (p.Pro770Ala)
c.2299C>G (p.Pro767Ala)
c.-125+1159G>C (n.-125+1159G>C)
c.-393+1159G>C (n.-393+1159G>C)
c.-278+1159G>C (n.-278+1159G>C)
c.556C>G (p.Pro186Ala)
 gnomAD v4
2g.165131363G>TCA349043326SCN2A,SCN3Ac.2395C>A (p.Pro799Thr)
c.2446C>A (p.Pro816Thr)
c.*287C>A (n.*287C>A)
c.544C>A (p.Pro182Thr)
c.2308C>A (p.Pro770Thr)
c.2299C>A (p.Pro767Thr)
c.-125+1159G>T (n.-125+1159G>T)
c.-393+1159G>T (n.-393+1159G>T)
c.-278+1159G>T (n.-278+1159G>T)
c.556C>A (p.Pro186Thr)
2g.165131364A=CA1304452609SCN2A,SCN3Ac.2394T= (p.Asp798=)
c.2445T= (p.Asp815=)
c.*286T= (n.*286T=)
c.543T= (p.Asp181=)
c.2307T= (p.Asp769=)
c.2298T= (p.Asp766=)
c.-125+1160A= (n.-125+1160A=)
c.-393+1160A= (n.-393+1160A=)
c.-278+1160A= (n.-278+1160A=)
c.555T= (p.Asp185=)
2g.165131364A>CCA349043330SCN2A,SCN3Ac.2394T>G (p.Asp798Glu)
c.2445T>G (p.Asp815Glu)
c.*286T>G (n.*286T>G)
c.543T>G (p.Asp181Glu)
c.2307T>G (p.Asp769Glu)
c.2298T>G (p.Asp766Glu)
c.-125+1160A>C (n.-125+1160A>C)
c.-393+1160A>C (n.-393+1160A>C)
c.-278+1160A>C (n.-278+1160A>C)
c.555T>G (p.Asp185Glu)
2g.165131364A>GCA429884170SCN2A,SCN3Ac.2394T>C (p.Asp798=)
c.2445T>C (p.Asp815=)
c.*286T>C (n.*286T>C)
c.543T>C (p.Asp181=)
c.2307T>C (p.Asp769=)
c.2298T>C (p.Asp766=)
c.-125+1160A>G (n.-125+1160A>G)
c.-393+1160A>G (n.-393+1160A>G)
c.-278+1160A>G (n.-278+1160A>G)
c.555T>C (p.Asp185=)
 ClinVar dbSNP
2g.165131364A>TCA349043332SCN2A,SCN3Ac.2394T>A (p.Asp798Glu)
c.2445T>A (p.Asp815Glu)
c.*286T>A (n.*286T>A)
c.543T>A (p.Asp181Glu)
c.2307T>A (p.Asp769Glu)
c.2298T>A (p.Asp766Glu)
c.-125+1160A>T (n.-125+1160A>T)
c.-393+1160A>T (n.-393+1160A>T)
c.-278+1160A>T (n.-278+1160A>T)
c.555T>A (p.Asp185Glu)
2g.165131365T>ACA349043334SCN2A,SCN3Ac.2393A>T (p.Asp798Val)
c.2444A>T (p.Asp815Val)
c.*285A>T (n.*285A>T)
c.542A>T (p.Asp181Val)
c.2306A>T (p.Asp769Val)
c.2297A>T (p.Asp766Val)
c.-125+1161T>A (n.-125+1161T>A)
c.-393+1161T>A (n.-393+1161T>A)
c.-278+1161T>A (n.-278+1161T>A)
c.554A>T (p.Asp185Val)
2g.165131365T>CCA349043336SCN2A,SCN3Ac.2393A>G (p.Asp798Gly)
c.2444A>G (p.Asp815Gly)
c.*285A>G (n.*285A>G)
c.542A>G (p.Asp181Gly)
c.2306A>G (p.Asp769Gly)
c.2297A>G (p.Asp766Gly)
c.-125+1161T>C (n.-125+1161T>C)
c.-393+1161T>C (n.-393+1161T>C)
c.-278+1161T>C (n.-278+1161T>C)
c.554A>G (p.Asp185Gly)
2g.165131365T>GCA349043338SCN2A,SCN3Ac.2393A>C (p.Asp798Ala)
c.2444A>C (p.Asp815Ala)
c.*285A>C (n.*285A>C)
c.542A>C (p.Asp181Ala)
c.2306A>C (p.Asp769Ala)
c.2297A>C (p.Asp766Ala)
c.-125+1161T>G (n.-125+1161T>G)
c.-393+1161T>G (n.-393+1161T>G)
c.-278+1161T>G (n.-278+1161T>G)
c.554A>C (p.Asp185Ala)
2g.165131366C>ACA349043342SCN2A,SCN3Ac.2392G>T (p.Asp798Tyr)
c.2443G>T (p.Asp815Tyr)
c.*284G>T (n.*284G>T)
c.541G>T (p.Asp181Tyr)
c.2305G>T (p.Asp769Tyr)
c.2296G>T (p.Asp766Tyr)
c.-125+1162C>A (n.-125+1162C>A)
c.-393+1162C>A (n.-393+1162C>A)
c.-278+1162C>A (n.-278+1162C>A)
c.553G>T (p.Asp185Tyr)
 gnomAD v4
2g.165131366C=CA1304452610SCN2A,SCN3Ac.2392G= (p.Asp798=)
c.2443G= (p.Asp815=)
c.*284G= (n.*284G=)
c.541G= (p.Asp181=)
c.2305G= (p.Asp769=)
c.2296G= (p.Asp766=)
c.-125+1162C= (n.-125+1162C=)
c.-393+1162C= (n.-393+1162C=)
c.-278+1162C= (n.-278+1162C=)
c.553G= (p.Asp185=)
2g.165131366C>GCA349043339SCN2A,SCN3Ac.2392G>C (p.Asp798His)
c.2443G>C (p.Asp815His)
c.*284G>C (n.*284G>C)
c.541G>C (p.Asp181His)
c.2305G>C (p.Asp769His)
c.2296G>C (p.Asp766His)
c.-125+1162C>G (n.-125+1162C>G)
c.-393+1162C>G (n.-393+1162C>G)
c.-278+1162C>G (n.-278+1162C>G)
c.553G>C (p.Asp185His)
 gnomAD v4
2g.165131366C>TCA1938952SCN2A,SCN3Ac.2392G>A (p.Asp798Asn)
c.2443G>A (p.Asp815Asn)
c.*284G>A (n.*284G>A)
c.541G>A (p.Asp181Asn)
c.2305G>A (p.Asp769Asn)
c.2296G>A (p.Asp766Asn)
c.-125+1162C>T (n.-125+1162C>T)
c.-393+1162C>T (n.-393+1162C>T)
c.-278+1162C>T (n.-278+1162C>T)
c.553G>A (p.Asp185Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched