Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38587442C>ACA433136265SCN5Ac.2394G>T (p.Leu798=)
c.2265G>T (p.Leu755=)
3g.38587442C>GCA433136266SCN5Ac.2394G>C (p.Leu798=)
c.2265G>C (p.Leu755=)
3g.38587442C>TCA433136267SCN5Ac.2394G>A (p.Leu798=)
c.2265G>A (p.Leu755=)
3g.38587442_38587443delinsCACA1358578156SCN5Ac.2393_2394delinsTG (p.Leu798=)
c.2264_2265delinsTG (p.Leu755=)
3g.38587443delCA1358578157SCN5Ac.2393del (p.Leu798ArgfsTer4)
c.2264del (p.Leu755ArgfsTer4)
dbSNP gnomAD v4
3g.38587443A>CCA352143263SCN5Ac.2393T>G (p.Leu798Arg)
c.2264T>G (p.Leu755Arg)
3g.38587443A>GCA352143264SCN5Ac.2393T>C (p.Leu798Pro)
c.2264T>C (p.Leu755Pro)
3g.38587443A>TCA352143265SCN5Ac.2393T>A (p.Leu798Gln)
c.2264T>A (p.Leu755Gln)
3g.38587444G>ACA433136269SCN5Ac.2392C>T (p.Leu798=)
c.2263C>T (p.Leu755=)
COSMIC COSMIC COSMIC
3g.38587444G>CCA352143266SCN5Ac.2392C>G (p.Leu798Val)
c.2263C>G (p.Leu755Val)
3g.38587444G>TCA352143267SCN5Ac.2392C>A (p.Leu798Met)
c.2263C>A (p.Leu755Met)
3g.38587445G>ACA433136271SCN5Ac.2391C>T (p.Gly797=)
c.2262C>T (p.Gly754=)
3g.38587445G>CCA433136272SCN5Ac.2391C>G (p.Gly797=)
c.2262C>G (p.Gly754=)
3g.38587445G>TCA433136273SCN5Ac.2391C>A (p.Gly797=)
c.2262C>A (p.Gly754=)
gnomAD v4
3g.38587446C>ACA72929420SCN5Ac.2390G>T (p.Gly797Val)
c.2261G>T (p.Gly754Val)
ClinVar dbSNP gnomAD v4
3g.38587446C=CA1358578158SCN5Ac.2390G= (p.Gly797=)
c.2261G= (p.Gly754=)
3g.38587446C>GCA352143268SCN5Ac.2390G>C (p.Gly797Ala)
c.2261G>C (p.Gly754Ala)
ClinVar dbSNP
3g.38587446C>TCA352143269SCN5Ac.2390G>A (p.Gly797Asp)
c.2261G>A (p.Gly754Asp)
ClinVar dbSNP gnomAD v4
3g.38587447C>ACA352143270SCN5Ac.2389G>T (p.Gly797Cys)
c.2260G>T (p.Gly754Cys)
3g.38587447C>GCA352143271SCN5Ac.2389G>C (p.Gly797Arg)
c.2260G>C (p.Gly754Arg)
3g.38587447C>TCA352143272SCN5Ac.2389G>A (p.Gly797Ser)
c.2260G>A (p.Gly754Ser)
3g.38587448C>ACA433136274SCN5Ac.2388G>T (p.Leu796=)
c.2259G>T (p.Leu753=)
3g.38587448C>GCA433136275SCN5Ac.2388G>C (p.Leu796=)
c.2259G>C (p.Leu753=)
3g.38587448C>TCA433136276SCN5Ac.2388G>A (p.Leu796=)
c.2259G>A (p.Leu753=)
gnomAD v4
3g.38587449A>CCA352143273SCN5Ac.2387T>G (p.Leu796Arg)
c.2258T>G (p.Leu753Arg)
3g.38587449A>GCA352143274SCN5Ac.2387T>C (p.Leu796Pro)
c.2258T>C (p.Leu753Pro)
3g.38587449A>TCA352143275SCN5Ac.2387T>A (p.Leu796Gln)
c.2258T>A (p.Leu753Gln)
3g.38587450G>ACA060317SCN5Ac.2386C>T (p.Leu796=)
c.2257C>T (p.Leu753=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38587450G>CCA352143277SCN5Ac.2386C>G (p.Leu796Val)
c.2257C>G (p.Leu753Val)
3g.38587450G=CA1358578159SCN5Ac.2386C= (p.Leu796=)
c.2257C= (p.Leu753=)
3g.38587450G>TCA352143276SCN5Ac.2386C>A (p.Leu796Met)
c.2257C>A (p.Leu753Met)
ClinVar dbSNP gnomAD v4
3g.38587451C>ACA352143278SCN5Ac.2385G>T (p.Glu795Asp)
c.2256G>T (p.Glu752Asp)
3g.38587451C=CA1358578160SCN5Ac.2385G= (p.Glu795=)
c.2256G= (p.Glu752=)
3g.38587451C>GCA352143279SCN5Ac.2385G>C (p.Glu795Asp)
c.2256G>C (p.Glu752Asp)
dbSNP gnomAD v3 gnomAD v4
3g.38587451C>TCA433136280SCN5Ac.2385G>A (p.Glu795=)
c.2256G>A (p.Glu752=)
3g.38587452T>ACA352143280SCN5Ac.2384A>T (p.Glu795Val)
c.2255A>T (p.Glu752Val)
3g.38587452T>CCA352143281SCN5Ac.2384A>G (p.Glu795Gly)
c.2255A>G (p.Glu752Gly)
3g.38587452T>GCA352143282SCN5Ac.2384A>C (p.Glu795Ala)
c.2255A>C (p.Glu752Ala)
3g.38587453C>ACA352143283SCN5Ac.2383G>T (p.Glu795Ter)
c.2254G>T (p.Glu752Ter)
dbSNP
3g.38587453C=CA1358578161SCN5Ac.2383G= (p.Glu795=)
c.2254G= (p.Glu752=)
3g.38587453C>GCA352143284SCN5Ac.2383G>C (p.Glu795Gln)
c.2254G>C (p.Glu752Gln)
ClinVar
3g.38587453C>TCA16611283SCN5Ac.2383G>A (p.Glu795Lys)
c.2254G>A (p.Glu752Lys)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
3g.38587454C>ACA352143285SCN5Ac.2382G>T (p.Met794Ile)
c.2253G>T (p.Met751Ile)
3g.38587454C=CA1358578162SCN5Ac.2382G= (p.Met794=)
c.2253G= (p.Met751=)
3g.38587454C>GCA352143286SCN5Ac.2382G>C (p.Met794Ile)
c.2253G>C (p.Met751Ile)
ClinVar dbSNP
3g.38587454C>TCA352143287SCN5Ac.2382G>A (p.Met794Ile)
c.2253G>A (p.Met751Ile)
dbSNP gnomAD v3 gnomAD v4
3g.38587455A=CA1358578163SCN5Ac.2381T= (p.Met794=)
c.2252T= (p.Met751=)
3g.38587455A>CCA352143288SCN5Ac.2381T>G (p.Met794Arg)
c.2252T>G (p.Met751Arg)
3g.38587455A>GCA16604918SCN5Ac.2381T>C (p.Met794Thr)
c.2252T>C (p.Met751Thr)
ClinVar dbSNP gnomAD v4
3g.38587455A>TCA352143289SCN5Ac.2381T>A (p.Met794Lys)
c.2252T>A (p.Met751Lys)
3g.38587456T>ACA352143291SCN5Ac.2380A>T (p.Met794Leu)
c.2251A>T (p.Met751Leu)
3g.38587456T>CCA352143292SCN5Ac.2380A>G (p.Met794Val)
c.2251A>G (p.Met751Val)
ClinVar
3g.38587456T>GCA352143290SCN5Ac.2380A>C (p.Met794Leu)
c.2251A>C (p.Met751Leu)
3g.38587457G>ACA060305SCN5Ac.2379C>T (p.Leu793=)
c.2250C>T (p.Leu750=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38587457G>CCA433136285SCN5Ac.2379C>G (p.Leu793=)
c.2250C>G (p.Leu750=)
3g.38587457G=CA1358578164SCN5Ac.2379C= (p.Leu793=)
c.2250C= (p.Leu750=)
3g.38587457G>TCA433136286SCN5Ac.2379C>A (p.Leu793=)
c.2250C>A (p.Leu750=)
3g.38587458A>CCA352143293SCN5Ac.2378T>G (p.Leu793Arg)
c.2249T>G (p.Leu750Arg)
3g.38587458A>GCA352143294SCN5Ac.2378T>C (p.Leu793Pro)
c.2249T>C (p.Leu750Pro)
3g.38587458A>TCA352143295SCN5Ac.2378T>A (p.Leu793His)
c.2249T>A (p.Leu750His)
3g.38587459G>ACA352143296SCN5Ac.2377C>T (p.Leu793Phe)
c.2248C>T (p.Leu750Phe)
ClinVar dbSNP gnomAD v2
3g.38587459G>CCA352143297SCN5Ac.2377C>G (p.Leu793Val)
c.2248C>G (p.Leu750Val)
3g.38587459G=CA1358578165SCN5Ac.2377C= (p.Leu793=)
c.2248C= (p.Leu750=)
3g.38587459G>TCA352143298SCN5Ac.2377C>A (p.Leu793Ile)
c.2248C>A (p.Leu750Ile)
3g.38587460G>ACA433136287SCN5Ac.2376C>T (p.Ser792=)
c.2247C>T (p.Ser749=)
3g.38587460G>CCA352143299SCN5Ac.2376C>G (p.Ser792Arg)
c.2247C>G (p.Ser749Arg)
3g.38587460G>TCA352143300SCN5Ac.2376C>A (p.Ser792Arg)
c.2247C>A (p.Ser749Arg)
3g.38587461C>ACA352143301SCN5Ac.2375G>T (p.Ser792Ile)
c.2246G>T (p.Ser749Ile)
3g.38587461C>GCA352143302SCN5Ac.2375G>C (p.Ser792Thr)
c.2246G>C (p.Ser749Thr)
3g.38587461C>TCA352143303SCN5Ac.2375G>A (p.Ser792Asn)
c.2246G>A (p.Ser749Asn)
3g.38587462T>ACA352143305SCN5Ac.2374A>T (p.Ser792Cys)
c.2245A>T (p.Ser749Cys)
3g.38587462T>CCA352143306SCN5Ac.2374A>G (p.Ser792Gly)
c.2245A>G (p.Ser749Gly)
3g.38587462T>GCA352143304SCN5Ac.2374A>C (p.Ser792Arg)
c.2245A>C (p.Ser749Arg)
3g.38587462dupCA2586972031SCN5Ac.2374dup (p.Ser792LysfsTer?)
c.2245dup (p.Ser749LysfsTer?)
3g.38587463A>CCA433136289SCN5Ac.2373T>G (p.Leu791=)
c.2244T>G (p.Leu748=)
3g.38587463A>GCA433136291SCN5Ac.2373T>C (p.Leu791=)
c.2244T>C (p.Leu748=)
gnomAD v4
3g.38587463A>TCA433136290SCN5Ac.2373T>A (p.Leu791=)
c.2244T>A (p.Leu748=)
3g.38587464A>CCA352143307SCN5Ac.2372T>G (p.Leu791Arg)
c.2243T>G (p.Leu748Arg)
3g.38587464A>GCA352143308SCN5Ac.2372T>C (p.Leu791Pro)
c.2243T>C (p.Leu748Pro)
3g.38587464A>TCA352143309SCN5Ac.2372T>A (p.Leu791His)
c.2243T>A (p.Leu748His)
3g.38587465G>ACA352143310SCN5Ac.2371C>T (p.Leu791Phe)
c.2242C>T (p.Leu748Phe)
dbSNP gnomAD v4
3g.38587465G>CCA352143311SCN5Ac.2371C>G (p.Leu791Val)
c.2242C>G (p.Leu748Val)
3g.38587465G=CA1358578166SCN5Ac.2371C= (p.Leu791=)
c.2242C= (p.Leu748=)
3g.38587465G>TCA352143312SCN5Ac.2371C>A (p.Leu791Ile)
c.2242C>A (p.Leu748Ile)
3g.38587466G>ACA433136292SCN5Ac.2370C>T (p.Ile790=)
c.2241C>T (p.Ile747=)
3g.38587466G>CCA352143313SCN5Ac.2370C>G (p.Ile790Met)
c.2241C>G (p.Ile747Met)
3g.38587466G>TCA433136293SCN5Ac.2370C>A (p.Ile790=)
c.2241C>A (p.Ile747=)
3g.38587467A>CCA352143314SCN5Ac.2369T>G (p.Ile790Ser)
c.2240T>G (p.Ile747Ser)
3g.38587467A>GCA352143315SCN5Ac.2369T>C (p.Ile790Thr)
c.2240T>C (p.Ile747Thr)
gnomAD v4
3g.38587467A>TCA352143316SCN5Ac.2369T>A (p.Ile790Asn)
c.2240T>A (p.Ile747Asn)
3g.38587468T>ACA352143317SCN5Ac.2368A>T (p.Ile790Phe)
c.2239A>T (p.Ile747Phe)
3g.38587468T>CCA352143318SCN5Ac.2368A>G (p.Ile790Val)
c.2239A>G (p.Ile747Val)
3g.38587468T>GCA352143319SCN5Ac.2368A>C (p.Ile790Leu)
c.2239A>C (p.Ile747Leu)
COSMIC COSMIC COSMIC
3g.38587469G>ACA433136296SCN5Ac.2367C>T (p.Val789=)
c.2238C>T (p.Val746=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38587469G>CCA433136297SCN5Ac.2367C>G (p.Val789=)
c.2238C>G (p.Val746=)
3g.38587469G=CA1358578167SCN5Ac.2367C= (p.Val789=)
c.2238C= (p.Val746=)
3g.38587469G>TCA433136298SCN5Ac.2367C>A (p.Val789=)
c.2238C>A (p.Val746=)
3g.38587470A=CA1358578168SCN5Ac.2366T= (p.Val789=)
c.2237T= (p.Val746=)
3g.38587470A>CCA352143320SCN5Ac.2366T>G (p.Val789Gly)
c.2237T>G (p.Val746Gly)
3g.38587470A>GCA060290SCN5Ac.2366T>C (p.Val789Ala)
c.2237T>C (p.Val746Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38587470A>TCA352143321SCN5Ac.2366T>A (p.Val789Asp)
c.2237T>A (p.Val746Asp)
3g.38587471C>ACA352143322SCN5Ac.2365G>T (p.Val789Phe)
c.2236G>T (p.Val746Phe)
3g.38587471C=CA1358578169SCN5Ac.2365G= (p.Val789=)
c.2236G= (p.Val746=)
3g.38587471C>GCA352143323SCN5Ac.2365G>C (p.Val789Leu)
c.2236G>C (p.Val746Leu)
3g.38587471C>TCA016111SCN5Ac.2365G>A (p.Val789Ile)
c.2236G>A (p.Val746Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38587472G>ACA060275SCN5Ac.2364C>T (p.Ile788=)
c.2235C>T (p.Ile745=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38587472G>CCA352143324SCN5Ac.2364C>G (p.Ile788Met)
c.2235C>G (p.Ile745Met)
3g.38587472G=CA1358578170SCN5Ac.2364C= (p.Ile788=)
c.2235C= (p.Ile745=)
3g.38587472G>TCA433136302SCN5Ac.2364C>A (p.Ile788=)
c.2235C>A (p.Ile745=)
ClinVar
3g.38587473A>CCA352143325SCN5Ac.2363T>G (p.Ile788Ser)
c.2234T>G (p.Ile745Ser)
3g.38587473A>GCA352143326SCN5Ac.2363T>C (p.Ile788Thr)
c.2234T>C (p.Ile745Thr)
3g.38587473A>TCA352143327SCN5Ac.2363T>A (p.Ile788Asn)
c.2234T>A (p.Ile745Asn)
3g.38587474T>ACA352143328SCN5Ac.2362A>T (p.Ile788Phe)
c.2233A>T (p.Ile745Phe)
ClinVar dbSNP
3g.38587474T>CCA352143329SCN5Ac.2362A>G (p.Ile788Val)
c.2233A>G (p.Ile745Val)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38587474T>GCA352143330SCN5Ac.2362A>C (p.Ile788Leu)
c.2233A>C (p.Ile745Leu)
3g.38587474T=CA1358578171SCN5Ac.2362A= (p.Ile788=)
c.2233A= (p.Ile745=)
3g.38587475G>ACA433136304SCN5Ac.2361C>T (p.Ile787=)
c.2232C>T (p.Ile744=)
ClinVar dbSNP gnomAD v4
3g.38587475G>CCA352143331SCN5Ac.2361C>G (p.Ile787Met)
c.2232C>G (p.Ile744Met)
3g.38587475G=CA1358578172SCN5Ac.2361C= (p.Ile787=)
c.2232C= (p.Ile744=)
3g.38587475G>TCA060269SCN5Ac.2361C>A (p.Ile787=)
c.2232C>A (p.Ile744=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38587476A>CCA352143334SCN5Ac.2360T>G (p.Ile787Ser)
c.2231T>G (p.Ile744Ser)
3g.38587476A>GCA352143333SCN5Ac.2360T>C (p.Ile787Thr)
c.2231T>C (p.Ile744Thr)
3g.38587476A>TCA352143332SCN5Ac.2360T>A (p.Ile787Asn)
c.2231T>A (p.Ile744Asn)
3g.38587477T>ACA352143335SCN5Ac.2359A>T (p.Ile787Phe)
c.2230A>T (p.Ile744Phe)
3g.38587477T>CCA352143336SCN5Ac.2359A>G (p.Ile787Val)
c.2230A>G (p.Ile744Val)
ClinVar gnomAD v4
3g.38587477T>GCA352143337SCN5Ac.2359A>C (p.Ile787Leu)
c.2230A>C (p.Ile744Leu)
3g.38587478G>ACA433136305SCN5Ac.2358C>T (p.Ser786=)
c.2229C>T (p.Ser743=)
3g.38587478G>CCA352143338SCN5Ac.2358C>G (p.Ser786Arg)
c.2229C>G (p.Ser743Arg)
3g.38587478G>TCA352143339SCN5Ac.2358C>A (p.Ser786Arg)
c.2229C>A (p.Ser743Arg)
3g.38587479C>ACA352143340SCN5Ac.2357G>T (p.Ser786Ile)
c.2228G>T (p.Ser743Ile)
3g.38587479C>GCA352143341SCN5Ac.2357G>C (p.Ser786Thr)
c.2228G>C (p.Ser743Thr)
3g.38587479C>TCA352143342SCN5Ac.2357G>A (p.Ser786Asn)
c.2228G>A (p.Ser743Asn)
3g.38587480T>ACA352143343SCN5Ac.2356A>T (p.Ser786Cys)
c.2227A>T (p.Ser743Cys)
3g.38587480T>CCA352143344SCN5Ac.2356A>G (p.Ser786Gly)
c.2227A>G (p.Ser743Gly)
3g.38587480T>GCA352143345SCN5Ac.2356A>C (p.Ser786Arg)
c.2227A>C (p.Ser743Arg)
3g.38587481delCA2665114017SCN5Ac.2355del (p.Asp785GlufsTer17)
c.2226del (p.Asp742GlufsTer17)
gnomAD v4
3g.38587481G>ACA433136308SCN5Ac.2355C>T (p.Asp785=)
c.2226C>T (p.Asp742=)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38587481G>CCA352143346SCN5Ac.2355C>G (p.Asp785Glu)
c.2226C>G (p.Asp742Glu)
gnomAD v4
3g.38587481G=CA1358578173SCN5Ac.2355C= (p.Asp785=)
c.2226C= (p.Asp742=)
3g.38587481G>TCA352143347SCN5Ac.2355C>A (p.Asp785Glu)
c.2226C>A (p.Asp742Glu)
3g.38587482T>ACA352143349SCN5Ac.2354A>T (p.Asp785Val)
c.2225A>T (p.Asp742Val)
3g.38587482T>CCA352143350SCN5Ac.2354A>G (p.Asp785Gly)
c.2225A>G (p.Asp742Gly)
3g.38587482T>GCA352143348SCN5Ac.2354A>C (p.Asp785Ala)
c.2225A>C (p.Asp742Ala)
3g.38587483C>ACA352143351SCN5Ac.2353G>T (p.Asp785Tyr)
c.2224G>T (p.Asp742Tyr)
3g.38587483C=CA1358578174SCN5Ac.2353G= (p.Asp785=)
c.2224G= (p.Asp742=)
3g.38587483C>GCA352143352SCN5Ac.2353G>C (p.Asp785His)
c.2224G>C (p.Asp742His)
gnomAD v4
3g.38587483C>TCA352143353SCN5Ac.2353G>A (p.Asp785Asn)
c.2224G>A (p.Asp742Asn)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38587484G>ACA433136311SCN5Ac.2352C>T (p.Phe784=)
c.2223C>T (p.Phe741=)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
3g.38587484G>CCA352143354SCN5Ac.2352C>G (p.Phe784Leu)
c.2223C>G (p.Phe741Leu)
3g.38587484G=CA1358578175SCN5Ac.2352C= (p.Phe784=)
c.2223C= (p.Phe741=)
3g.38587484G>TCA352143355SCN5Ac.2352C>A (p.Phe784Leu)
c.2223C>A (p.Phe741Leu)
3g.38587485A>CCA352143356SCN5Ac.2351T>G (p.Phe784Cys)
c.2222T>G (p.Phe741Cys)
3g.38587485A>GCA352143357SCN5Ac.2351T>C (p.Phe784Ser)
c.2222T>C (p.Phe741Ser)
3g.38587485A>TCA352143358SCN5Ac.2351T>A (p.Phe784Tyr)
c.2222T>A (p.Phe741Tyr)
3g.38587486A=CA1358578176SCN5Ac.2350T= (p.Phe784=)
c.2221T= (p.Phe741=)
3g.38587486A>CCA352143359SCN5Ac.2350T>G (p.Phe784Val)
c.2221T>G (p.Phe741Val)
3g.38587486A>GCA060231SCN5Ac.2350T>C (p.Phe784Leu)
c.2221T>C (p.Phe741Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38587486A>TCA352143360SCN5Ac.2350T>A (p.Phe784Ile)
c.2221T>A (p.Phe741Ile)
3g.38587487G>ACA433136315SCN5Ac.2349C>T (p.Ile783=)
c.2220C>T (p.Ile740=)
3g.38587487G>CCA72929434SCN5Ac.2349C>G (p.Ile783Met)
c.2220C>G (p.Ile740Met)
dbSNP gnomAD v4
3g.38587487G=CA1358578177SCN5Ac.2349C= (p.Ile783=)
c.2220C= (p.Ile740=)
3g.38587487G>TCA433136316SCN5Ac.2349C>A (p.Ile783=)
c.2220C>A (p.Ile740=)
3g.38587488A=CA1358578178SCN5Ac.2348T= (p.Ile783=)
c.2219T= (p.Ile740=)
3g.38587488A>CCA352143363SCN5Ac.2348T>G (p.Ile783Ser)
c.2219T>G (p.Ile740Ser)
3g.38587488A>GCA352143361SCN5Ac.2348T>C (p.Ile783Thr)
c.2219T>C (p.Ile740Thr)
dbSNP gnomAD v2
3g.38587488A>TCA352143362SCN5Ac.2348T>A (p.Ile783Asn)
c.2219T>A (p.Ile740Asn)
3g.38587489T>ACA352143364SCN5Ac.2347A>T (p.Ile783Phe)
c.2218A>T (p.Ile740Phe)
3g.38587489T>CCA352143365SCN5Ac.2347A>G (p.Ile783Val)
c.2218A>G (p.Ile740Val)
gnomAD v4
3g.38587489T>GCA352143366SCN5Ac.2347A>C (p.Ile783Leu)
c.2218A>C (p.Ile740Leu)
3g.38587490G>ACA433136322SCN5Ac.2346C>T (p.Asn782=)
c.2217C>T (p.Asn739=)
ClinVar
3g.38587490G>CCA352143367SCN5Ac.2346C>G (p.Asn782Lys)
c.2217C>G (p.Asn739Lys)
3g.38587490G>TCA352143368SCN5Ac.2346C>A (p.Asn782Lys)
c.2217C>A (p.Asn739Lys)
3g.38587491T>ACA352143369SCN5Ac.2345A>T (p.Asn782Ile)
c.2216A>T (p.Asn739Ile)
3g.38587491T>CCA352143370SCN5Ac.2345A>G (p.Asn782Ser)
c.2216A>G (p.Asn739Ser)
ClinVar gnomAD v4
3g.38587491T>GCA352143371SCN5Ac.2345A>C (p.Asn782Thr)
c.2216A>C (p.Asn739Thr)
3g.38587492T>ACA352143372SCN5Ac.2344A>T (p.Asn782Tyr)
c.2215A>T (p.Asn739Tyr)
3g.38587492T>CCA352143373SCN5Ac.2344A>G (p.Asn782Asp)
c.2215A>G (p.Asn739Asp)
3g.38587492T>GCA352143374SCN5Ac.2344A>C (p.Asn782His)
c.2215A>C (p.Asn739His)
3g.38587492_38587493delinsTCCA1358578179SCN5Ac.2343_2344delinsGA (p.Trp781=)
c.2214_2215delinsGA (p.Trp738=)
3g.38587493C>ACA352143376SCN5Ac.2343G>T (p.Trp781Cys)
c.2214G>T (p.Trp738Cys)
3g.38587493C=CA1358578180SCN5Ac.2343G= (p.Trp781=)
c.2214G= (p.Trp738=)
3g.38587493C>GCA352143375SCN5Ac.2343G>C (p.Trp781Cys)
c.2214G>C (p.Trp738Cys)
ClinVar
3g.38587493C>TCA352143377SCN5Ac.2343G>A (p.Trp781Ter)
c.2214G>A (p.Trp738Ter)
dbSNP COSMIC COSMIC COSMIC
3g.38587494delCA016100SCN5Ac.2343del (p.Trp781Ter)
c.2214del (p.Trp738Ter)
ClinVar dbSNP gnomAD v4
3g.38587494C>ACA352143379SCN5Ac.2342G>T (p.Trp781Leu)
c.2213G>T (p.Trp738Leu)
3g.38587494C>GCA352143378SCN5Ac.2342G>C (p.Trp781Ser)
c.2213G>C (p.Trp738Ser)
3g.38587494C>TCA352143380SCN5Ac.2342G>A (p.Trp781Ter)
c.2213G>A (p.Trp738Ter)
3g.38587495A>CCA352143381SCN5Ac.2341T>G (p.Trp781Gly)
c.2212T>G (p.Trp738Gly)
3g.38587495A>GCA352143383SCN5Ac.2341T>C (p.Trp781Arg)
c.2212T>C (p.Trp738Arg)
3g.38587495A>TCA352143382SCN5Ac.2341T>A (p.Trp781Arg)
c.2212T>A (p.Trp738Arg)
3g.38587496G>ACA433136326SCN5Ac.2340C>T (p.Gly780=)
c.2211C>T (p.Gly737=)
3g.38587496G>CCA433136327SCN5Ac.2340C>G (p.Gly780=)
c.2211C>G (p.Gly737=)
3g.38587496G>TCA433136328SCN5Ac.2340C>A (p.Gly780=)
c.2211C>A (p.Gly737=)
COSMIC COSMIC COSMIC
3g.38587497C>ACA352143384SCN5Ac.2339G>T (p.Gly780Val)
c.2210G>T (p.Gly737Val)
3g.38587497C>GCA352143385SCN5Ac.2339G>C (p.Gly780Ala)
c.2210G>C (p.Gly737Ala)
3g.38587497C>TCA352143386SCN5Ac.2339G>A (p.Gly780Asp)
c.2210G>A (p.Gly737Asp)
3g.38587498C>ACA352143387SCN5Ac.2338G>T (p.Gly780Cys)
c.2209G>T (p.Gly737Cys)
3g.38587498C>GCA352143388SCN5Ac.2338G>C (p.Gly780Arg)
c.2209G>C (p.Gly737Arg)
3g.38587498C>TCA352143389SCN5Ac.2338G>A (p.Gly780Ser)
c.2209G>A (p.Gly737Ser)
3g.38587499C>ACA352143390SCN5Ac.2337G>T (p.Gln779His)
c.2208G>T (p.Gln736His)
3g.38587499C>GCA352143391SCN5Ac.2337G>C (p.Gln779His)
c.2208G>C (p.Gln736His)
3g.38587499C>TCA433136334SCN5Ac.2337G>A (p.Gln779=)
c.2208G>A (p.Gln736=)
3g.38587500delCA2739277896SCN5Ac.2336del (p.Gln779ArgfsTer23)
c.2207del (p.Gln736ArgfsTer23)
ClinVar
3g.38587500T>ACA352143392SCN5Ac.2336A>T (p.Gln779Leu)
c.2207A>T (p.Gln736Leu)
3g.38587500T>CCA352143393SCN5Ac.2336A>G (p.Gln779Arg)
c.2207A>G (p.Gln736Arg)
dbSNP gnomAD v3 gnomAD v4
3g.38587500T>GCA352143394SCN5Ac.2336A>C (p.Gln779Pro)
c.2207A>C (p.Gln736Pro)
3g.38587500T=CA1358578181SCN5Ac.2336A= (p.Gln779=)
c.2207A= (p.Gln736=)
3g.38587500_38587501delinsTGCA1358578182SCN5Ac.2335_2336delinsCA (p.Gln779=)
c.2206_2207delinsCA (p.Gln736=)
3g.38587501delCA1139657972SCN5Ac.2335del (p.Gln779ArgfsTer23)
c.2206del (p.Gln736ArgfsTer23)
ClinVar dbSNP
3g.38587501G>ACA352143395SCN5Ac.2335C>T (p.Gln779Ter)
c.2206C>T (p.Gln736Ter)
dbSNP
3g.38587501G>CCA352143396SCN5Ac.2335C>G (p.Gln779Glu)
c.2206C>G (p.Gln736Glu)
3g.38587501G=CA1358578183SCN5Ac.2335C= (p.Gln779=)
c.2206C= (p.Gln736=)
3g.38587501G>TCA016095SCN5Ac.2335C>A (p.Gln779Lys)
c.2206C>A (p.Gln736Lys)
ClinVar dbSNP gnomAD v4
3g.38587502T>ACA352143397SCN5Ac.2334A>T (p.Gln778His)
c.2205A>T (p.Gln735His)
3g.38587502T>CCA433136338SCN5Ac.2334A>G (p.Gln778=)
c.2205A>G (p.Gln735=)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38587502T>GCA352143398SCN5Ac.2334A>C (p.Gln778His)
c.2205A>C (p.Gln735His)
3g.38587502T=CA1358578184SCN5Ac.2334A= (p.Gln778=)
c.2205A= (p.Gln735=)
3g.38587507_38587508insATTGGAACA16617952SCN5Ac.2334_2335insTTTCCAA (p.Gln779PhefsTer16)
c.2205_2206insTTTCCAA (p.Gln736PhefsTer16)
ClinVar dbSNP
3g.38587503T>ACA352143399SCN5Ac.2333A>T (p.Gln778Leu)
c.2204A>T (p.Gln735Leu)
3g.38587503T>CCA352143400SCN5Ac.2333A>G (p.Gln778Arg)
c.2204A>G (p.Gln735Arg)
3g.38587503T>GCA352143401SCN5Ac.2333A>C (p.Gln778Pro)
c.2204A>C (p.Gln735Pro)
3g.38587504G>ACA352143402SCN5Ac.2332C>T (p.Gln778Ter)
c.2203C>T (p.Gln735Ter)
COSMIC COSMIC COSMIC
3g.38587504G>CCA352143403SCN5Ac.2332C>G (p.Gln778Glu)
c.2203C>G (p.Gln735Glu)
gnomAD v4
3g.38587504G>TCA352143404SCN5Ac.2332C>A (p.Gln778Lys)
c.2203C>A (p.Gln735Lys)
3g.38587505G>ACA060222SCN5Ac.2331C>T (p.Phe777=)
c.2202C>T (p.Phe734=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38587505G>CCA72929440SCN5Ac.2331C>G (p.Phe777Leu)
c.2202C>G (p.Phe734Leu)
dbSNP
3g.38587505G=CA1358578185SCN5Ac.2331C= (p.Phe777=)
c.2202C= (p.Phe734=)
3g.38587505G>TCA352143405SCN5Ac.2331C>A (p.Phe777Leu)
c.2202C>A (p.Phe734Leu)
3g.38587506A=CA1358578186SCN5Ac.2330T= (p.Phe777=)
c.2201T= (p.Phe734=)
3g.38587506A>CCA352143406SCN5Ac.2330T>G (p.Phe777Cys)
c.2201T>G (p.Phe734Cys)
3g.38587506A>GCA352143407SCN5Ac.2330T>C (p.Phe777Ser)
c.2201T>C (p.Phe734Ser)
3g.38587506A>TCA016084SCN5Ac.2330T>A (p.Phe777Tyr)
c.2201T>A (p.Phe734Tyr)
ClinVar dbSNP gnomAD v4
3g.38587507A>CCA352143408SCN5Ac.2329T>G (p.Phe777Val)
c.2200T>G (p.Phe734Val)
3g.38587507A>GCA352143410SCN5Ac.2329T>C (p.Phe777Leu)
c.2200T>C (p.Phe734Leu)
3g.38587507A>TCA352143409SCN5Ac.2329T>A (p.Phe777Ile)
c.2200T>A (p.Phe734Ile)
3g.38587515_38587517delCA2586972032SCN5Ac.2327_2329del (p.Tyr776del)
c.2198_2200del (p.Tyr733del)
3g.38587508G>ACA433136346SCN5Ac.2328C>T (p.Tyr776=)
c.2199C>T (p.Tyr733=)
ClinVar dbSNP
3g.38587508G>CCA352143411SCN5Ac.2328C>G (p.Tyr776Ter)
c.2199C>G (p.Tyr733Ter)
3g.38587508G=CA1358578187SCN5Ac.2328C= (p.Tyr776=)
c.2199C= (p.Tyr733=)
3g.38587508G>TCA352143412SCN5Ac.2328C>A (p.Tyr776Ter)
c.2199C>A (p.Tyr733Ter)
3g.38587509T>ACA352143413SCN5Ac.2327A>T (p.Tyr776Phe)
c.2198A>T (p.Tyr733Phe)
3g.38587509T>CCA352143414SCN5Ac.2327A>G (p.Tyr776Cys)
c.2198A>G (p.Tyr733Cys)
3g.38587509T>GCA352143415SCN5Ac.2327A>C (p.Tyr776Ser)
c.2198A>C (p.Tyr733Ser)
3g.38587510A>CCA352143416SCN5Ac.2326T>G (p.Tyr776Asp)
c.2197T>G (p.Tyr733Asp)
COSMIC COSMIC COSMIC
3g.38587510A>GCA352143417SCN5Ac.2326T>C (p.Tyr776His)
c.2197T>C (p.Tyr733His)
3g.38587510A>TCA352143418SCN5Ac.2326T>A (p.Tyr776Asn)
c.2197T>A (p.Tyr733Asn)
3g.38587511G>ACA433136348SCN5Ac.2325C>T (p.Tyr775=)
c.2196C>T (p.Tyr732=)
gnomAD v4
3g.38587511G>CCA352143419SCN5Ac.2325C>G (p.Tyr775Ter)
c.2196C>G (p.Tyr732Ter)
ClinVar
3g.38587511G>TCA352143420SCN5Ac.2325C>A (p.Tyr775Ter)
c.2196C>A (p.Tyr732Ter)
3g.38587512T>ACA352143423SCN5Ac.2324A>T (p.Tyr775Phe)
c.2195A>T (p.Tyr732Phe)
3g.38587512T>CCA352143422SCN5Ac.2324A>G (p.Tyr775Cys)
c.2195A>G (p.Tyr732Cys)
3g.38587512T>GCA352143421SCN5Ac.2324A>C (p.Tyr775Ser)
c.2195A>C (p.Tyr732Ser)
gnomAD v4
3g.38587513A>CCA352143424SCN5Ac.2323T>G (p.Tyr775Asp)
c.2194T>G (p.Tyr732Asp)
3g.38587513A>GCA352143425SCN5Ac.2323T>C (p.Tyr775His)
c.2194T>C (p.Tyr732His)
3g.38587513A>TCA352143426SCN5Ac.2323T>A (p.Tyr775Asn)
c.2194T>A (p.Tyr732Asn)
3g.38587514G>ACA060217SCN5Ac.2322C>T (p.Tyr774=)
c.2193C>T (p.Tyr731=)
dbSNP ExAC gnomAD v2
3g.38587514G>CCA352143427SCN5Ac.2322C>G (p.Tyr774Ter)
c.2193C>G (p.Tyr731Ter)
3g.38587514G=CA1358578188SCN5Ac.2322C= (p.Tyr774=)
c.2193C= (p.Tyr731=)
3g.38587514G>TCA352143428SCN5Ac.2322C>A (p.Tyr774Ter)
c.2193C>A (p.Tyr731Ter)
COSMIC COSMIC COSMIC
3g.38587515T>ACA352143429SCN5Ac.2321A>T (p.Tyr774Phe)
c.2192A>T (p.Tyr731Phe)
3g.38587515T>CCA352143430SCN5Ac.2321A>G (p.Tyr774Cys)
c.2192A>G (p.Tyr731Cys)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38587515T>GCA352143431SCN5Ac.2321A>C (p.Tyr774Ser)
c.2192A>C (p.Tyr731Ser)
3g.38587515T=CA1358578189SCN5Ac.2321A= (p.Tyr774=)
c.2192A= (p.Tyr731=)
3g.38587516delCA2499216739SCN5Ac.2320del (p.Tyr774ThrfsTer28)
c.2191del (p.Tyr731ThrfsTer28)
ClinVar dbSNP
3g.38587516A=CA1358578190SCN5Ac.2320T= (p.Tyr774=)
c.2191T= (p.Tyr731=)
3g.38587516A>CCA352143432SCN5Ac.2320T>G (p.Tyr774Asp)
c.2191T>G (p.Tyr731Asp)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38587516A>GCA352143433SCN5Ac.2320T>C (p.Tyr774His)
c.2191T>C (p.Tyr731His)
3g.38587516A>TCA352143434SCN5Ac.2320T>A (p.Tyr774Asn)
c.2191T>A (p.Tyr731Asn)
3g.38587517G>ACA433136357SCN5Ac.2319C>T (p.Pro773=)
c.2190C>T (p.Pro730=)
3g.38587517G>CCA433136358SCN5Ac.2319C>G (p.Pro773=)
c.2190C>G (p.Pro730=)
3g.38587517G>TCA433136359SCN5Ac.2319C>A (p.Pro773=)
c.2190C>A (p.Pro730=)
3g.38587518G>ACA352143436SCN5Ac.2318C>T (p.Pro773Leu)
c.2189C>T (p.Pro730Leu)
COSMIC COSMIC COSMIC
3g.38587518G>CCA352143437SCN5Ac.2318C>G (p.Pro773Arg)
c.2189C>G (p.Pro730Arg)
ClinVar dbSNP
3g.38587518G=CA1358578191SCN5Ac.2318C= (p.Pro773=)
c.2189C= (p.Pro730=)
3g.38587518G>TCA352143435SCN5Ac.2318C>A (p.Pro773His)
c.2189C>A (p.Pro730His)
3g.38587519G>ACA016076SCN5Ac.2317C>T (p.Pro773Ser)
c.2188C>T (p.Pro730Ser)
ClinVar dbSNP
3g.38587519G>CCA352143438SCN5Ac.2317C>G (p.Pro773Ala)
c.2188C>G (p.Pro730Ala)
3g.38587519G=CA1358578192SCN5Ac.2317C= (p.Pro773=)
c.2188C= (p.Pro730=)
3g.38587519G>TCA352143439SCN5Ac.2317C>A (p.Pro773Thr)
c.2188C>A (p.Pro730Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38587520G>ACA433136363SCN5Ac.2316C>T (p.Asp772=)
c.2187C>T (p.Asp729=)
3g.38587520G>CCA352143440SCN5Ac.2316C>G (p.Asp772Glu)
c.2187C>G (p.Asp729Glu)
3g.38587520G>TCA352143441SCN5Ac.2316C>A (p.Asp772Glu)
c.2187C>A (p.Asp729Glu)
ClinVar gnomAD v4
3g.38587521T>ACA352143442SCN5Ac.2315A>T (p.Asp772Val)
c.2186A>T (p.Asp729Val)
3g.38587521T>CCA352143443SCN5Ac.2315A>G (p.Asp772Gly)
c.2186A>G (p.Asp729Gly)
gnomAD v4
3g.38587521T>GCA352143444SCN5Ac.2315A>C (p.Asp772Ala)
c.2186A>C (p.Asp729Ala)
3g.38587522C>ACA352143445SCN5Ac.2314G>T (p.Asp772Tyr)
c.2185G>T (p.Asp729Tyr)
3g.38587522C=CA1358578193SCN5Ac.2314G= (p.Asp772=)
c.2185G= (p.Asp729=)
3g.38587522C>GCA352143446SCN5Ac.2314G>C (p.Asp772His)
c.2185G>C (p.Asp729His)
3g.38587522C>TCA016059SCN5Ac.2314G>A (p.Asp772Asn)
c.2185G>A (p.Asp729Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38587523G>ACA10576616SCN5Ac.2313C>T (p.Leu771=)
c.2184C>T (p.Leu728=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38587523G>CCA433136368SCN5Ac.2313C>G (p.Leu771=)
c.2184C>G (p.Leu728=)
ClinVar
3g.38587523G=CA1358578194SCN5Ac.2313C= (p.Leu771=)
c.2184C= (p.Leu728=)
3g.38587523G>TCA433136369SCN5Ac.2313C>A (p.Leu771=)
c.2184C>A (p.Leu728=)
3g.38587524A>CCA352143447SCN5Ac.2312T>G (p.Leu771Arg)
c.2183T>G (p.Leu728Arg)
3g.38587524A>GCA352143448SCN5Ac.2312T>C (p.Leu771Pro)
c.2183T>C (p.Leu728Pro)
3g.38587524A>TCA352143449SCN5Ac.2312T>A (p.Leu771His)
c.2183T>A (p.Leu728His)
3g.38587525G>ACA352143450SCN5Ac.2311C>T (p.Leu771Phe)
c.2182C>T (p.Leu728Phe)
gnomAD v4
3g.38587525G>CCA352143452SCN5Ac.2311C>G (p.Leu771Val)
c.2182C>G (p.Leu728Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38587525G=CA1358578195SCN5Ac.2311C= (p.Leu771=)
c.2182C= (p.Leu728=)
3g.38587525G>TCA352143451SCN5Ac.2311C>A (p.Leu771Ile)
c.2182C>A (p.Leu728Ile)
3g.38587526G>ACA433136374SCN5Ac.2310C>T (p.Ala770=)
c.2181C>T (p.Ala727=)
ClinVar gnomAD v4
3g.38587526G>CCA433136376SCN5Ac.2310C>G (p.Ala770=)
c.2181C>G (p.Ala727=)
3g.38587526G>TCA433136375SCN5Ac.2310C>A (p.Ala770=)
c.2181C>A (p.Ala727=)
3g.38587527G>ACA352143453SCN5Ac.2309C>T (p.Ala770Val)
c.2180C>T (p.Ala727Val)
gnomAD v4
3g.38587527G>CCA352143454SCN5Ac.2309C>G (p.Ala770Gly)
c.2180C>G (p.Ala727Gly)
3g.38587527G>TCA352143455SCN5Ac.2309C>A (p.Ala770Asp)
c.2180C>A (p.Ala727Asp)
3g.38587528C>ACA352143456SCN5Ac.2308G>T (p.Ala770Ser)
c.2179G>T (p.Ala727Ser)
3g.38587528C>GCA352143457SCN5Ac.2308G>C (p.Ala770Pro)
c.2179G>C (p.Ala727Pro)
3g.38587528C>TCA352143458SCN5Ac.2308G>A (p.Ala770Thr)
c.2179G>A (p.Ala727Thr)
3g.38587529A>CCA352143459SCN5Ac.2307T>G (p.Ile769Met)
c.2178T>G (p.Ile726Met)
3g.38587529A>GCA433136378SCN5Ac.2307T>C (p.Ile769=)
c.2178T>C (p.Ile726=)
3g.38587529A>TCA433136379SCN5Ac.2307T>A (p.Ile769=)
c.2178T>A (p.Ile726=)
3g.38587530A>CCA352143460SCN5Ac.2306T>G (p.Ile769Ser)
c.2177T>G (p.Ile726Ser)
3g.38587530A>GCA352143461SCN5Ac.2306T>C (p.Ile769Thr)
c.2177T>C (p.Ile726Thr)
3g.38587530A>TCA352143462SCN5Ac.2306T>A (p.Ile769Asn)
c.2177T>A (p.Ile726Asn)
3g.38587531T>ACA352143465SCN5Ac.2305A>T (p.Ile769Phe)
c.2176A>T (p.Ile726Phe)
3g.38587531T>CCA352143464SCN5Ac.2305A>G (p.Ile769Val)
c.2176A>G (p.Ile726Val)
3g.38587531T>GCA352143463SCN5Ac.2305A>C (p.Ile769Leu)
c.2176A>C (p.Ile726Leu)
3g.38587532G>ACA433136381SCN5Ac.2304C>T (p.Ile768=)
c.2175C>T (p.Ile725=)
3g.38587532G>CCA352143466SCN5Ac.2304C>G (p.Ile768Met)
c.2175C>G (p.Ile725Met)
3g.38587532G>TCA433136382SCN5Ac.2304C>A (p.Ile768=)
c.2175C>A (p.Ile725=)
3g.38587533A>CCA352143467SCN5Ac.2303T>G (p.Ile768Ser)
c.2174T>G (p.Ile725Ser)
3g.38587533A>GCA352143468SCN5Ac.2303T>C (p.Ile768Thr)
c.2174T>C (p.Ile725Thr)
3g.38587533A>TCA352143469SCN5Ac.2303T>A (p.Ile768Asn)
c.2174T>A (p.Ile725Asn)
3g.38587534T>ACA352143470SCN5Ac.2302A>T (p.Ile768Phe)
c.2173A>T (p.Ile725Phe)
3g.38587534T>CCA352143471SCN5Ac.2302A>G (p.Ile768Val)
c.2173A>G (p.Ile725Val)
ClinVar dbSNP
3g.38587534T>GCA352143472SCN5Ac.2302A>C (p.Ile768Leu)
c.2173A>C (p.Ile725Leu)
3g.38587535C>ACA352143473SCN5Ac.2301G>T (p.Lys767Asn)
c.2172G>T (p.Lys724Asn)
gnomAD v4 COSMIC COSMIC COSMIC
3g.38587535C>GCA352143474SCN5Ac.2301G>C (p.Lys767Asn)
c.2172G>C (p.Lys724Asn)
3g.38587535C>TCA433136384SCN5Ac.2301G>A (p.Lys767=)
c.2172G>A (p.Lys724=)
3g.38587536T>ACA352143475SCN5Ac.2300A>T (p.Lys767Met)
c.2171A>T (p.Lys724Met)
3g.38587536T>CCA352143476SCN5Ac.2300A>G (p.Lys767Arg)
c.2171A>G (p.Lys724Arg)
ClinVar gnomAD v4
3g.38587536T>GCA352143477SCN5Ac.2300A>C (p.Lys767Thr)
c.2171A>C (p.Lys724Thr)
dbSNP gnomAD v3 gnomAD v4
3g.38587536T=CA1358578196SCN5Ac.2300A= (p.Lys767=)
c.2171A= (p.Lys724=)
3g.38587537T>ACA352143479SCN5Ac.2299A>T (p.Lys767Ter)
c.2170A>T (p.Lys724Ter)
dbSNP
3g.38587537T>CCA352143480SCN5Ac.2299A>G (p.Lys767Glu)
c.2170A>G (p.Lys724Glu)
3g.38587537T>GCA352143478SCN5Ac.2299A>C (p.Lys767Gln)
c.2170A>C (p.Lys724Gln)
3g.38587537T=CA1358578197SCN5Ac.2299A= (p.Lys767=)
c.2170A= (p.Lys724=)
3g.38587538G>ACA433136385SCN5Ac.2298C>T (p.Phe766=)
c.2169C>T (p.Phe723=)
3g.38587538G>CCA352143481SCN5Ac.2298C>G (p.Phe766Leu)
c.2169C>G (p.Phe723Leu)
3g.38587538G>TCA352143482SCN5Ac.2298C>A (p.Phe766Leu)
c.2169C>A (p.Phe723Leu)
3g.38587538dupCA915942301SCN5Ac.2298dup (p.Lys767GlnfsTer26)
c.2169dup (p.Lys724GlnfsTer26)
ClinVar dbSNP
3g.38587539A=CA1358578198SCN5Ac.2297T= (p.Phe766=)
c.2168T= (p.Phe723=)
3g.38587539A>CCA352143483SCN5Ac.2297T>G (p.Phe766Cys)
c.2168T>G (p.Phe723Cys)
3g.38587539A>GCA352143484SCN5Ac.2297T>C (p.Phe766Ser)
c.2168T>C (p.Phe723Ser)
dbSNP
3g.38587539A>TCA352143485SCN5Ac.2297T>A (p.Phe766Tyr)
c.2168T>A (p.Phe723Tyr)
3g.38587540A>CCA352143488SCN5Ac.2296T>G (p.Phe766Val)
c.2167T>G (p.Phe723Val)
3g.38587540A>GCA352143486SCN5Ac.2296T>C (p.Phe766Leu)
c.2167T>C (p.Phe723Leu)
3g.38587540A>TCA352143487SCN5Ac.2296T>A (p.Phe766Ile)
c.2167T>A (p.Phe723Ile)
3g.38587541G>ACA433136389SCN5Ac.2295C>T (p.Thr765=)
c.2166C>T (p.Thr722=)
COSMIC
3g.38587541G>CCA433136390SCN5Ac.2295C>G (p.Thr765=)
c.2166C>G (p.Thr722=)
3g.38587541G>TCA433136391SCN5Ac.2295C>A (p.Thr765=)
c.2166C>A (p.Thr722=)
3g.38587542G>ACA352143489SCN5Ac.2294C>T (p.Thr765Ile)
c.2165C>T (p.Thr722Ile)
ClinVar dbSNP
3g.38587542G>CCA352143490SCN5Ac.2294C>G (p.Thr765Ser)
c.2165C>G (p.Thr722Ser)
3g.38587542G=CA1358578199SCN5Ac.2294C= (p.Thr765=)
c.2165C= (p.Thr722=)
3g.38587542G>TCA352143491SCN5Ac.2294C>A (p.Thr765Asn)
c.2165C>A (p.Thr722Asn)

Number of alleles fetched