| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38587465G>A | CA352143310 | SCN5A | c.2371C>T (p.Leu791Phe) c.2242C>T (p.Leu748Phe) | dbSNP gnomAD v4 |
| 3 | g.38587465G>C | CA352143311 | SCN5A | c.2371C>G (p.Leu791Val) c.2242C>G (p.Leu748Val) | |
| 3 | g.38587465G= | CA1358578166 | SCN5A | c.2371C= (p.Leu791=) c.2242C= (p.Leu748=) | |
| 3 | g.38587465G>T | CA352143312 | SCN5A | c.2371C>A (p.Leu791Ile) c.2242C>A (p.Leu748Ile) | |
| 3 | g.38587466G>A | CA433136292 | SCN5A | c.2370C>T (p.Ile790=) c.2241C>T (p.Ile747=) | |
| 3 | g.38587466G>C | CA352143313 | SCN5A | c.2370C>G (p.Ile790Met) c.2241C>G (p.Ile747Met) | |
| 3 | g.38587466G>T | CA433136293 | SCN5A | c.2370C>A (p.Ile790=) c.2241C>A (p.Ile747=) | |
| 3 | g.38587467A>C | CA352143314 | SCN5A | c.2369T>G (p.Ile790Ser) c.2240T>G (p.Ile747Ser) | |
| 3 | g.38587467A>G | CA352143315 | SCN5A | c.2369T>C (p.Ile790Thr) c.2240T>C (p.Ile747Thr) | gnomAD v4 |
| 3 | g.38587467A>T | CA352143316 | SCN5A | c.2369T>A (p.Ile790Asn) c.2240T>A (p.Ile747Asn) | |
| 3 | g.38587468T>A | CA352143317 | SCN5A | c.2368A>T (p.Ile790Phe) c.2239A>T (p.Ile747Phe) | |
| 3 | g.38587468T>C | CA352143318 | SCN5A | c.2368A>G (p.Ile790Val) c.2239A>G (p.Ile747Val) | |
| 3 | g.38587468T>G | CA352143319 | SCN5A | c.2368A>C (p.Ile790Leu) c.2239A>C (p.Ile747Leu) | COSMIC COSMIC COSMIC |
| 3 | g.38587469G>A | CA433136296 | SCN5A | c.2367C>T (p.Val789=) c.2238C>T (p.Val746=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38587469G>C | CA433136297 | SCN5A | c.2367C>G (p.Val789=) c.2238C>G (p.Val746=) | |
| 3 | g.38587469G= | CA1358578167 | SCN5A | c.2367C= (p.Val789=) c.2238C= (p.Val746=) | |
| 3 | g.38587469G>T | CA433136298 | SCN5A | c.2367C>A (p.Val789=) c.2238C>A (p.Val746=) | |
| 3 | g.38587470A= | CA1358578168 | SCN5A | c.2366T= (p.Val789=) c.2237T= (p.Val746=) | |
| 3 | g.38587470A>C | CA352143320 | SCN5A | c.2366T>G (p.Val789Gly) c.2237T>G (p.Val746Gly) | |
| 3 | g.38587470A>G | CA060290 | SCN5A | c.2366T>C (p.Val789Ala) c.2237T>C (p.Val746Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38587470A>T | CA352143321 | SCN5A | c.2366T>A (p.Val789Asp) c.2237T>A (p.Val746Asp) | |
| 3 | g.38587471C>A | CA352143322 | SCN5A | c.2365G>T (p.Val789Phe) c.2236G>T (p.Val746Phe) | |
| 3 | g.38587471C= | CA1358578169 | SCN5A | c.2365G= (p.Val789=) c.2236G= (p.Val746=) | |
| 3 | g.38587471C>G | CA352143323 | SCN5A | c.2365G>C (p.Val789Leu) c.2236G>C (p.Val746Leu) | |
| 3 | g.38587471C>T | CA016111 | SCN5A | c.2365G>A (p.Val789Ile) c.2236G>A (p.Val746Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38587472G>A | CA060275 | SCN5A | c.2364C>T (p.Ile788=) c.2235C>T (p.Ile745=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38587472G>C | CA352143324 | SCN5A | c.2364C>G (p.Ile788Met) c.2235C>G (p.Ile745Met) | |
| 3 | g.38587472G= | CA1358578170 | SCN5A | c.2364C= (p.Ile788=) c.2235C= (p.Ile745=) | |
| 3 | g.38587472G>T | CA433136302 | SCN5A | c.2364C>A (p.Ile788=) c.2235C>A (p.Ile745=) | ClinVar |
| 3 | g.38587473A>C | CA352143325 | SCN5A | c.2363T>G (p.Ile788Ser) c.2234T>G (p.Ile745Ser) | |
| 3 | g.38587473A>G | CA352143326 | SCN5A | c.2363T>C (p.Ile788Thr) c.2234T>C (p.Ile745Thr) | |
| 3 | g.38587473A>T | CA352143327 | SCN5A | c.2363T>A (p.Ile788Asn) c.2234T>A (p.Ile745Asn) | |
| 3 | g.38587474T>A | CA352143328 | SCN5A | c.2362A>T (p.Ile788Phe) c.2233A>T (p.Ile745Phe) | ClinVar dbSNP |
| 3 | g.38587474T>C | CA352143329 | SCN5A | c.2362A>G (p.Ile788Val) c.2233A>G (p.Ile745Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38587474T>G | CA352143330 | SCN5A | c.2362A>C (p.Ile788Leu) c.2233A>C (p.Ile745Leu) | |
| 3 | g.38587474T= | CA1358578171 | SCN5A | c.2362A= (p.Ile788=) c.2233A= (p.Ile745=) | |
| 3 | g.38587475G>A | CA433136304 | SCN5A | c.2361C>T (p.Ile787=) c.2232C>T (p.Ile744=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38587475G>C | CA352143331 | SCN5A | c.2361C>G (p.Ile787Met) c.2232C>G (p.Ile744Met) | |
| 3 | g.38587475G= | CA1358578172 | SCN5A | c.2361C= (p.Ile787=) c.2232C= (p.Ile744=) | |
| 3 | g.38587475G>T | CA060269 | SCN5A | c.2361C>A (p.Ile787=) c.2232C>A (p.Ile744=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38587476A>C | CA352143334 | SCN5A | c.2360T>G (p.Ile787Ser) c.2231T>G (p.Ile744Ser) | |
| 3 | g.38587476A>G | CA352143333 | SCN5A | c.2360T>C (p.Ile787Thr) c.2231T>C (p.Ile744Thr) | |
| 3 | g.38587476A>T | CA352143332 | SCN5A | c.2360T>A (p.Ile787Asn) c.2231T>A (p.Ile744Asn) | |
| 3 | g.38587477T>A | CA352143335 | SCN5A | c.2359A>T (p.Ile787Phe) c.2230A>T (p.Ile744Phe) | |
| 3 | g.38587477T>C | CA352143336 | SCN5A | c.2359A>G (p.Ile787Val) c.2230A>G (p.Ile744Val) | ClinVar gnomAD v4 |
| 3 | g.38587477T>G | CA352143337 | SCN5A | c.2359A>C (p.Ile787Leu) c.2230A>C (p.Ile744Leu) | |
| 3 | g.38587478G>A | CA433136305 | SCN5A | c.2358C>T (p.Ser786=) c.2229C>T (p.Ser743=) | |
| 3 | g.38587478G>C | CA352143338 | SCN5A | c.2358C>G (p.Ser786Arg) c.2229C>G (p.Ser743Arg) | |
| 3 | g.38587478G>T | CA352143339 | SCN5A | c.2358C>A (p.Ser786Arg) c.2229C>A (p.Ser743Arg) | |
| 3 | g.38587479C>A | CA352143340 | SCN5A | c.2357G>T (p.Ser786Ile) c.2228G>T (p.Ser743Ile) | |
| 3 | g.38587479C>G | CA352143341 | SCN5A | c.2357G>C (p.Ser786Thr) c.2228G>C (p.Ser743Thr) | |
| 3 | g.38587479C>T | CA352143342 | SCN5A | c.2357G>A (p.Ser786Asn) c.2228G>A (p.Ser743Asn) | |
| 3 | g.38587480T>A | CA352143343 | SCN5A | c.2356A>T (p.Ser786Cys) c.2227A>T (p.Ser743Cys) | |
| 3 | g.38587480T>C | CA352143344 | SCN5A | c.2356A>G (p.Ser786Gly) c.2227A>G (p.Ser743Gly) | |
| 3 | g.38587480T>G | CA352143345 | SCN5A | c.2356A>C (p.Ser786Arg) c.2227A>C (p.Ser743Arg) | |
| 3 | g.38587481del | CA2665114017 | SCN5A | c.2355del (p.Asp785GlufsTer17) c.2226del (p.Asp742GlufsTer17) | gnomAD v4 |
| 3 | g.38587481G>A | CA433136308 | SCN5A | c.2355C>T (p.Asp785=) c.2226C>T (p.Asp742=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38587481G>C | CA352143346 | SCN5A | c.2355C>G (p.Asp785Glu) c.2226C>G (p.Asp742Glu) | gnomAD v4 |
| 3 | g.38587481G= | CA1358578173 | SCN5A | c.2355C= (p.Asp785=) c.2226C= (p.Asp742=) | |
| 3 | g.38587481G>T | CA352143347 | SCN5A | c.2355C>A (p.Asp785Glu) c.2226C>A (p.Asp742Glu) | |
| 3 | g.38587482T>A | CA352143349 | SCN5A | c.2354A>T (p.Asp785Val) c.2225A>T (p.Asp742Val) | |
| 3 | g.38587482T>C | CA352143350 | SCN5A | c.2354A>G (p.Asp785Gly) c.2225A>G (p.Asp742Gly) | |
| 3 | g.38587482T>G | CA352143348 | SCN5A | c.2354A>C (p.Asp785Ala) c.2225A>C (p.Asp742Ala) | |
| 3 | g.38587483C>A | CA352143351 | SCN5A | c.2353G>T (p.Asp785Tyr) c.2224G>T (p.Asp742Tyr) | |
| 3 | g.38587483C= | CA1358578174 | SCN5A | c.2353G= (p.Asp785=) c.2224G= (p.Asp742=) | |
| 3 | g.38587483C>G | CA352143352 | SCN5A | c.2353G>C (p.Asp785His) c.2224G>C (p.Asp742His) | gnomAD v4 |
| 3 | g.38587483C>T | CA352143353 | SCN5A | c.2353G>A (p.Asp785Asn) c.2224G>A (p.Asp742Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38587484G>A | CA433136311 | SCN5A | c.2352C>T (p.Phe784=) c.2223C>T (p.Phe741=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38587484G>C | CA352143354 | SCN5A | c.2352C>G (p.Phe784Leu) c.2223C>G (p.Phe741Leu) | |
| 3 | g.38587484G= | CA1358578175 | SCN5A | c.2352C= (p.Phe784=) c.2223C= (p.Phe741=) | |
| 3 | g.38587484G>T | CA352143355 | SCN5A | c.2352C>A (p.Phe784Leu) c.2223C>A (p.Phe741Leu) | |
| 3 | g.38587485A>C | CA352143356 | SCN5A | c.2351T>G (p.Phe784Cys) c.2222T>G (p.Phe741Cys) | |
| 3 | g.38587485A>G | CA352143357 | SCN5A | c.2351T>C (p.Phe784Ser) c.2222T>C (p.Phe741Ser) | |
| 3 | g.38587485A>T | CA352143358 | SCN5A | c.2351T>A (p.Phe784Tyr) c.2222T>A (p.Phe741Tyr) | |
| 3 | g.38587486A= | CA1358578176 | SCN5A | c.2350T= (p.Phe784=) c.2221T= (p.Phe741=) | |
| 3 | g.38587486A>C | CA352143359 | SCN5A | c.2350T>G (p.Phe784Val) c.2221T>G (p.Phe741Val) | |
| 3 | g.38587486A>G | CA060231 | SCN5A | c.2350T>C (p.Phe784Leu) c.2221T>C (p.Phe741Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38587486A>T | CA352143360 | SCN5A | c.2350T>A (p.Phe784Ile) c.2221T>A (p.Phe741Ile) | |
| 3 | g.38587487G>A | CA433136315 | SCN5A | c.2349C>T (p.Ile783=) c.2220C>T (p.Ile740=) | |
| 3 | g.38587487G>C | CA72929434 | SCN5A | c.2349C>G (p.Ile783Met) c.2220C>G (p.Ile740Met) | dbSNP gnomAD v4 |
| 3 | g.38587487G= | CA1358578177 | SCN5A | c.2349C= (p.Ile783=) c.2220C= (p.Ile740=) | |
| 3 | g.38587487G>T | CA433136316 | SCN5A | c.2349C>A (p.Ile783=) c.2220C>A (p.Ile740=) | |
| 3 | g.38587488A= | CA1358578178 | SCN5A | c.2348T= (p.Ile783=) c.2219T= (p.Ile740=) | |
| 3 | g.38587488A>C | CA352143363 | SCN5A | c.2348T>G (p.Ile783Ser) c.2219T>G (p.Ile740Ser) | |
| 3 | g.38587488A>G | CA352143361 | SCN5A | c.2348T>C (p.Ile783Thr) c.2219T>C (p.Ile740Thr) | dbSNP gnomAD v2 |
| 3 | g.38587488A>T | CA352143362 | SCN5A | c.2348T>A (p.Ile783Asn) c.2219T>A (p.Ile740Asn) | |
| 3 | g.38587489T>A | CA352143364 | SCN5A | c.2347A>T (p.Ile783Phe) c.2218A>T (p.Ile740Phe) | |
| 3 | g.38587489T>C | CA352143365 | SCN5A | c.2347A>G (p.Ile783Val) c.2218A>G (p.Ile740Val) | gnomAD v4 |
| 3 | g.38587489T>G | CA352143366 | SCN5A | c.2347A>C (p.Ile783Leu) c.2218A>C (p.Ile740Leu) | |
| 3 | g.38587490G>A | CA433136322 | SCN5A | c.2346C>T (p.Asn782=) c.2217C>T (p.Asn739=) | ClinVar |
| 3 | g.38587490G>C | CA352143367 | SCN5A | c.2346C>G (p.Asn782Lys) c.2217C>G (p.Asn739Lys) | |
| 3 | g.38587490G>T | CA352143368 | SCN5A | c.2346C>A (p.Asn782Lys) c.2217C>A (p.Asn739Lys) | |
| 3 | g.38587491T>A | CA352143369 | SCN5A | c.2345A>T (p.Asn782Ile) c.2216A>T (p.Asn739Ile) | |
| 3 | g.38587491T>C | CA352143370 | SCN5A | c.2345A>G (p.Asn782Ser) c.2216A>G (p.Asn739Ser) | ClinVar gnomAD v4 |
| 3 | g.38587491T>G | CA352143371 | SCN5A | c.2345A>C (p.Asn782Thr) c.2216A>C (p.Asn739Thr) | |
| 3 | g.38587492T>A | CA352143372 | SCN5A | c.2344A>T (p.Asn782Tyr) c.2215A>T (p.Asn739Tyr) | |
| 3 | g.38587492T>C | CA352143373 | SCN5A | c.2344A>G (p.Asn782Asp) c.2215A>G (p.Asn739Asp) | |
| 3 | g.38587492T>G | CA352143374 | SCN5A | c.2344A>C (p.Asn782His) c.2215A>C (p.Asn739His) | |
| 3 | g.38587492_38587493delinsTC | CA1358578179 | SCN5A | c.2343_2344delinsGA (p.Trp781=) c.2214_2215delinsGA (p.Trp738=) | |
| 3 | g.38587493C>A | CA352143376 | SCN5A | c.2343G>T (p.Trp781Cys) c.2214G>T (p.Trp738Cys) | |
| 3 | g.38587493C= | CA1358578180 | SCN5A | c.2343G= (p.Trp781=) c.2214G= (p.Trp738=) | |
| 3 | g.38587493C>G | CA352143375 | SCN5A | c.2343G>C (p.Trp781Cys) c.2214G>C (p.Trp738Cys) | ClinVar |
| 3 | g.38587493C>T | CA352143377 | SCN5A | c.2343G>A (p.Trp781Ter) c.2214G>A (p.Trp738Ter) | dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38587494del | CA016100 | SCN5A | c.2343del (p.Trp781Ter) c.2214del (p.Trp738Ter) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38587494C>A | CA352143379 | SCN5A | c.2342G>T (p.Trp781Leu) c.2213G>T (p.Trp738Leu) | |
| 3 | g.38587494C>G | CA352143378 | SCN5A | c.2342G>C (p.Trp781Ser) c.2213G>C (p.Trp738Ser) | |
| 3 | g.38587494C>T | CA352143380 | SCN5A | c.2342G>A (p.Trp781Ter) c.2213G>A (p.Trp738Ter) | |
| 3 | g.38587495A>C | CA352143381 | SCN5A | c.2341T>G (p.Trp781Gly) c.2212T>G (p.Trp738Gly) | |
| 3 | g.38587495A>G | CA352143383 | SCN5A | c.2341T>C (p.Trp781Arg) c.2212T>C (p.Trp738Arg) | |
| 3 | g.38587495A>T | CA352143382 | SCN5A | c.2341T>A (p.Trp781Arg) c.2212T>A (p.Trp738Arg) | |
| 3 | g.38587496G>A | CA433136326 | SCN5A | c.2340C>T (p.Gly780=) c.2211C>T (p.Gly737=) | |
| 3 | g.38587496G>C | CA433136327 | SCN5A | c.2340C>G (p.Gly780=) c.2211C>G (p.Gly737=) | |
| 3 | g.38587496G>T | CA433136328 | SCN5A | c.2340C>A (p.Gly780=) c.2211C>A (p.Gly737=) | COSMIC COSMIC COSMIC |
| 3 | g.38587497C>A | CA352143384 | SCN5A | c.2339G>T (p.Gly780Val) c.2210G>T (p.Gly737Val) | |
| 3 | g.38587497C>G | CA352143385 | SCN5A | c.2339G>C (p.Gly780Ala) c.2210G>C (p.Gly737Ala) | |
| 3 | g.38587497C>T | CA352143386 | SCN5A | c.2339G>A (p.Gly780Asp) c.2210G>A (p.Gly737Asp) | |
| 3 | g.38587498C>A | CA352143387 | SCN5A | c.2338G>T (p.Gly780Cys) c.2209G>T (p.Gly737Cys) | |
| 3 | g.38587498C>G | CA352143388 | SCN5A | c.2338G>C (p.Gly780Arg) c.2209G>C (p.Gly737Arg) | |
| 3 | g.38587498C>T | CA352143389 | SCN5A | c.2338G>A (p.Gly780Ser) c.2209G>A (p.Gly737Ser) | |
| 3 | g.38587499C>A | CA352143390 | SCN5A | c.2337G>T (p.Gln779His) c.2208G>T (p.Gln736His) | |
| 3 | g.38587499C>G | CA352143391 | SCN5A | c.2337G>C (p.Gln779His) c.2208G>C (p.Gln736His) | |
| 3 | g.38587499C>T | CA433136334 | SCN5A | c.2337G>A (p.Gln779=) c.2208G>A (p.Gln736=) | |
| 3 | g.38587500del | CA2739277896 | SCN5A | c.2336del (p.Gln779ArgfsTer23) c.2207del (p.Gln736ArgfsTer23) | ClinVar |
| 3 | g.38587500T>A | CA352143392 | SCN5A | c.2336A>T (p.Gln779Leu) c.2207A>T (p.Gln736Leu) | |
| 3 | g.38587500T>C | CA352143393 | SCN5A | c.2336A>G (p.Gln779Arg) c.2207A>G (p.Gln736Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38587500T>G | CA352143394 | SCN5A | c.2336A>C (p.Gln779Pro) c.2207A>C (p.Gln736Pro) | |
| 3 | g.38587500T= | CA1358578181 | SCN5A | c.2336A= (p.Gln779=) c.2207A= (p.Gln736=) | |
| 3 | g.38587500_38587501delinsTG | CA1358578182 | SCN5A | c.2335_2336delinsCA (p.Gln779=) c.2206_2207delinsCA (p.Gln736=) | |
| 3 | g.38587501del | CA1139657972 | SCN5A | c.2335del (p.Gln779ArgfsTer23) c.2206del (p.Gln736ArgfsTer23) | ClinVar dbSNP |
| 3 | g.38587501G>A | CA352143395 | SCN5A | c.2335C>T (p.Gln779Ter) c.2206C>T (p.Gln736Ter) | dbSNP |
| 3 | g.38587501G>C | CA352143396 | SCN5A | c.2335C>G (p.Gln779Glu) c.2206C>G (p.Gln736Glu) | |
| 3 | g.38587501G= | CA1358578183 | SCN5A | c.2335C= (p.Gln779=) c.2206C= (p.Gln736=) | |
| 3 | g.38587501G>T | CA016095 | SCN5A | c.2335C>A (p.Gln779Lys) c.2206C>A (p.Gln736Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38587502T>A | CA352143397 | SCN5A | c.2334A>T (p.Gln778His) c.2205A>T (p.Gln735His) | |
| 3 | g.38587502T>C | CA433136338 | SCN5A | c.2334A>G (p.Gln778=) c.2205A>G (p.Gln735=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38587502T>G | CA352143398 | SCN5A | c.2334A>C (p.Gln778His) c.2205A>C (p.Gln735His) | |
| 3 | g.38587502T= | CA1358578184 | SCN5A | c.2334A= (p.Gln778=) c.2205A= (p.Gln735=) | |
| 3 | g.38587507_38587508insATTGGAA | CA16617952 | SCN5A | c.2334_2335insTTTCCAA (p.Gln779PhefsTer16) c.2205_2206insTTTCCAA (p.Gln736PhefsTer16) | ClinVar dbSNP |
| 3 | g.38587503T>A | CA352143399 | SCN5A | c.2333A>T (p.Gln778Leu) c.2204A>T (p.Gln735Leu) | |
| 3 | g.38587503T>C | CA352143400 | SCN5A | c.2333A>G (p.Gln778Arg) c.2204A>G (p.Gln735Arg) | |
| 3 | g.38587503T>G | CA352143401 | SCN5A | c.2333A>C (p.Gln778Pro) c.2204A>C (p.Gln735Pro) | |
| 3 | g.38587504G>A | CA352143402 | SCN5A | c.2332C>T (p.Gln778Ter) c.2203C>T (p.Gln735Ter) | COSMIC COSMIC COSMIC |
| 3 | g.38587504G>C | CA352143403 | SCN5A | c.2332C>G (p.Gln778Glu) c.2203C>G (p.Gln735Glu) | gnomAD v4 |
| 3 | g.38587504G>T | CA352143404 | SCN5A | c.2332C>A (p.Gln778Lys) c.2203C>A (p.Gln735Lys) | |
| 3 | g.38587505G>A | CA060222 | SCN5A | c.2331C>T (p.Phe777=) c.2202C>T (p.Phe734=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38587505G>C | CA72929440 | SCN5A | c.2331C>G (p.Phe777Leu) c.2202C>G (p.Phe734Leu) | dbSNP |
| 3 | g.38587505G= | CA1358578185 | SCN5A | c.2331C= (p.Phe777=) c.2202C= (p.Phe734=) | |
| 3 | g.38587505G>T | CA352143405 | SCN5A | c.2331C>A (p.Phe777Leu) c.2202C>A (p.Phe734Leu) | |
| 3 | g.38587506A= | CA1358578186 | SCN5A | c.2330T= (p.Phe777=) c.2201T= (p.Phe734=) | |
| 3 | g.38587506A>C | CA352143406 | SCN5A | c.2330T>G (p.Phe777Cys) c.2201T>G (p.Phe734Cys) | |
| 3 | g.38587506A>G | CA352143407 | SCN5A | c.2330T>C (p.Phe777Ser) c.2201T>C (p.Phe734Ser) | |
| 3 | g.38587506A>T | CA016084 | SCN5A | c.2330T>A (p.Phe777Tyr) c.2201T>A (p.Phe734Tyr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38587507A>C | CA352143408 | SCN5A | c.2329T>G (p.Phe777Val) c.2200T>G (p.Phe734Val) | |
| 3 | g.38587507A>G | CA352143410 | SCN5A | c.2329T>C (p.Phe777Leu) c.2200T>C (p.Phe734Leu) | |
| 3 | g.38587507A>T | CA352143409 | SCN5A | c.2329T>A (p.Phe777Ile) c.2200T>A (p.Phe734Ile) | |
| 3 | g.38587515_38587517del | CA2586972032 | SCN5A | c.2327_2329del (p.Tyr776del) c.2198_2200del (p.Tyr733del) | |
| 3 | g.38587508G>A | CA433136346 | SCN5A | c.2328C>T (p.Tyr776=) c.2199C>T (p.Tyr733=) | ClinVar dbSNP |
| 3 | g.38587508G>C | CA352143411 | SCN5A | c.2328C>G (p.Tyr776Ter) c.2199C>G (p.Tyr733Ter) | |
| 3 | g.38587508G= | CA1358578187 | SCN5A | c.2328C= (p.Tyr776=) c.2199C= (p.Tyr733=) | |
| 3 | g.38587508G>T | CA352143412 | SCN5A | c.2328C>A (p.Tyr776Ter) c.2199C>A (p.Tyr733Ter) | |
| 3 | g.38587509T>A | CA352143413 | SCN5A | c.2327A>T (p.Tyr776Phe) c.2198A>T (p.Tyr733Phe) | |
| 3 | g.38587509T>C | CA352143414 | SCN5A | c.2327A>G (p.Tyr776Cys) c.2198A>G (p.Tyr733Cys) | |
| 3 | g.38587509T>G | CA352143415 | SCN5A | c.2327A>C (p.Tyr776Ser) c.2198A>C (p.Tyr733Ser) | |
| 3 | g.38587510A>C | CA352143416 | SCN5A | c.2326T>G (p.Tyr776Asp) c.2197T>G (p.Tyr733Asp) | COSMIC COSMIC COSMIC |
| 3 | g.38587510A>G | CA352143417 | SCN5A | c.2326T>C (p.Tyr776His) c.2197T>C (p.Tyr733His) | |
| 3 | g.38587510A>T | CA352143418 | SCN5A | c.2326T>A (p.Tyr776Asn) c.2197T>A (p.Tyr733Asn) | |
| 3 | g.38587511G>A | CA433136348 | SCN5A | c.2325C>T (p.Tyr775=) c.2196C>T (p.Tyr732=) | gnomAD v4 |
| 3 | g.38587511G>C | CA352143419 | SCN5A | c.2325C>G (p.Tyr775Ter) c.2196C>G (p.Tyr732Ter) | ClinVar |
| 3 | g.38587511G>T | CA352143420 | SCN5A | c.2325C>A (p.Tyr775Ter) c.2196C>A (p.Tyr732Ter) | |
| 3 | g.38587512T>A | CA352143423 | SCN5A | c.2324A>T (p.Tyr775Phe) c.2195A>T (p.Tyr732Phe) | |
| 3 | g.38587512T>C | CA352143422 | SCN5A | c.2324A>G (p.Tyr775Cys) c.2195A>G (p.Tyr732Cys) | |
| 3 | g.38587512T>G | CA352143421 | SCN5A | c.2324A>C (p.Tyr775Ser) c.2195A>C (p.Tyr732Ser) | gnomAD v4 |
| 3 | g.38587513A>C | CA352143424 | SCN5A | c.2323T>G (p.Tyr775Asp) c.2194T>G (p.Tyr732Asp) | |
| 3 | g.38587513A>G | CA352143425 | SCN5A | c.2323T>C (p.Tyr775His) c.2194T>C (p.Tyr732His) | |
| 3 | g.38587513A>T | CA352143426 | SCN5A | c.2323T>A (p.Tyr775Asn) c.2194T>A (p.Tyr732Asn) | |
| 3 | g.38587514G>A | CA060217 | SCN5A | c.2322C>T (p.Tyr774=) c.2193C>T (p.Tyr731=) | dbSNP ExAC gnomAD v2 |
| 3 | g.38587514G>C | CA352143427 | SCN5A | c.2322C>G (p.Tyr774Ter) c.2193C>G (p.Tyr731Ter) | |
| 3 | g.38587514G= | CA1358578188 | SCN5A | c.2322C= (p.Tyr774=) c.2193C= (p.Tyr731=) | |
| 3 | g.38587514G>T | CA352143428 | SCN5A | c.2322C>A (p.Tyr774Ter) c.2193C>A (p.Tyr731Ter) | COSMIC COSMIC COSMIC |
| 3 | g.38587515T>A | CA352143429 | SCN5A | c.2321A>T (p.Tyr774Phe) c.2192A>T (p.Tyr731Phe) | |
| 3 | g.38587515T>C | CA352143430 | SCN5A | c.2321A>G (p.Tyr774Cys) c.2192A>G (p.Tyr731Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38587515T>G | CA352143431 | SCN5A | c.2321A>C (p.Tyr774Ser) c.2192A>C (p.Tyr731Ser) | |
| 3 | g.38587515T= | CA1358578189 | SCN5A | c.2321A= (p.Tyr774=) c.2192A= (p.Tyr731=) | |
| 3 | g.38587516del | CA2499216739 | SCN5A | c.2320del (p.Tyr774ThrfsTer28) c.2191del (p.Tyr731ThrfsTer28) | ClinVar dbSNP |
| 3 | g.38587516A= | CA1358578190 | SCN5A | c.2320T= (p.Tyr774=) c.2191T= (p.Tyr731=) | |
| 3 | g.38587516A>C | CA352143432 | SCN5A | c.2320T>G (p.Tyr774Asp) c.2191T>G (p.Tyr731Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38587516A>G | CA352143433 | SCN5A | c.2320T>C (p.Tyr774His) c.2191T>C (p.Tyr731His) | |
| 3 | g.38587516A>T | CA352143434 | SCN5A | c.2320T>A (p.Tyr774Asn) c.2191T>A (p.Tyr731Asn) | |
| 3 | g.38587517G>A | CA433136357 | SCN5A | c.2319C>T (p.Pro773=) c.2190C>T (p.Pro730=) | |
| 3 | g.38587517G>C | CA433136358 | SCN5A | c.2319C>G (p.Pro773=) c.2190C>G (p.Pro730=) | |
| 3 | g.38587517G>T | CA433136359 | SCN5A | c.2319C>A (p.Pro773=) c.2190C>A (p.Pro730=) | |
| 3 | g.38587518G>A | CA352143436 | SCN5A | c.2318C>T (p.Pro773Leu) c.2189C>T (p.Pro730Leu) | COSMIC COSMIC COSMIC |
| 3 | g.38587518G>C | CA352143437 | SCN5A | c.2318C>G (p.Pro773Arg) c.2189C>G (p.Pro730Arg) | ClinVar dbSNP |
| 3 | g.38587518G= | CA1358578191 | SCN5A | c.2318C= (p.Pro773=) c.2189C= (p.Pro730=) | |
| 3 | g.38587518G>T | CA352143435 | SCN5A | c.2318C>A (p.Pro773His) c.2189C>A (p.Pro730His) | |
| 3 | g.38587519G>A | CA016076 | SCN5A | c.2317C>T (p.Pro773Ser) c.2188C>T (p.Pro730Ser) | ClinVar dbSNP |
| 3 | g.38587519G>C | CA352143438 | SCN5A | c.2317C>G (p.Pro773Ala) c.2188C>G (p.Pro730Ala) | |
| 3 | g.38587519G= | CA1358578192 | SCN5A | c.2317C= (p.Pro773=) c.2188C= (p.Pro730=) | |
| 3 | g.38587519G>T | CA352143439 | SCN5A | c.2317C>A (p.Pro773Thr) c.2188C>A (p.Pro730Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38587520G>A | CA433136363 | SCN5A | c.2316C>T (p.Asp772=) c.2187C>T (p.Asp729=) | |
| 3 | g.38587520G>C | CA352143440 | SCN5A | c.2316C>G (p.Asp772Glu) c.2187C>G (p.Asp729Glu) | |
| 3 | g.38587520G>T | CA352143441 | SCN5A | c.2316C>A (p.Asp772Glu) c.2187C>A (p.Asp729Glu) | ClinVar gnomAD v4 |
| 3 | g.38587521T>A | CA352143442 | SCN5A | c.2315A>T (p.Asp772Val) c.2186A>T (p.Asp729Val) | |
| 3 | g.38587521T>C | CA352143443 | SCN5A | c.2315A>G (p.Asp772Gly) c.2186A>G (p.Asp729Gly) | gnomAD v4 |
| 3 | g.38587521T>G | CA352143444 | SCN5A | c.2315A>C (p.Asp772Ala) c.2186A>C (p.Asp729Ala) | |
| 3 | g.38587522C>A | CA352143445 | SCN5A | c.2314G>T (p.Asp772Tyr) c.2185G>T (p.Asp729Tyr) | |
| 3 | g.38587522C= | CA1358578193 | SCN5A | c.2314G= (p.Asp772=) c.2185G= (p.Asp729=) | |
| 3 | g.38587522C>G | CA352143446 | SCN5A | c.2314G>C (p.Asp772His) c.2185G>C (p.Asp729His) | |
| 3 | g.38587522C>T | CA016059 | SCN5A | c.2314G>A (p.Asp772Asn) c.2185G>A (p.Asp729Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38587523G>A | CA10576616 | SCN5A | c.2313C>T (p.Leu771=) c.2184C>T (p.Leu728=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38587523G>C | CA433136368 | SCN5A | c.2313C>G (p.Leu771=) c.2184C>G (p.Leu728=) | ClinVar |
| 3 | g.38587523G= | CA1358578194 | SCN5A | c.2313C= (p.Leu771=) c.2184C= (p.Leu728=) | |
| 3 | g.38587523G>T | CA433136369 | SCN5A | c.2313C>A (p.Leu771=) c.2184C>A (p.Leu728=) | |
| 3 | g.38587524A>C | CA352143447 | SCN5A | c.2312T>G (p.Leu771Arg) c.2183T>G (p.Leu728Arg) | |
| 3 | g.38587524A>G | CA352143448 | SCN5A | c.2312T>C (p.Leu771Pro) c.2183T>C (p.Leu728Pro) | |
| 3 | g.38587524A>T | CA352143449 | SCN5A | c.2312T>A (p.Leu771His) c.2183T>A (p.Leu728His) | |
| 3 | g.38587525G>A | CA352143450 | SCN5A | c.2311C>T (p.Leu771Phe) c.2182C>T (p.Leu728Phe) | gnomAD v4 |
| 3 | g.38587525G>C | CA352143452 | SCN5A | c.2311C>G (p.Leu771Val) c.2182C>G (p.Leu728Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38587525G= | CA1358578195 | SCN5A | c.2311C= (p.Leu771=) c.2182C= (p.Leu728=) | |
| 3 | g.38587525G>T | CA352143451 | SCN5A | c.2311C>A (p.Leu771Ile) c.2182C>A (p.Leu728Ile) | |
| 3 | g.38587526G>A | CA433136374 | SCN5A | c.2310C>T (p.Ala770=) c.2181C>T (p.Ala727=) | ClinVar gnomAD v4 |
| 3 | g.38587526G>C | CA433136376 | SCN5A | c.2310C>G (p.Ala770=) c.2181C>G (p.Ala727=) | |
| 3 | g.38587526G>T | CA433136375 | SCN5A | c.2310C>A (p.Ala770=) c.2181C>A (p.Ala727=) | |
| 3 | g.38587527G>A | CA352143453 | SCN5A | c.2309C>T (p.Ala770Val) c.2180C>T (p.Ala727Val) | gnomAD v4 |
| 3 | g.38587527G>C | CA352143454 | SCN5A | c.2309C>G (p.Ala770Gly) c.2180C>G (p.Ala727Gly) | |
| 3 | g.38587527G>T | CA352143455 | SCN5A | c.2309C>A (p.Ala770Asp) c.2180C>A (p.Ala727Asp) | |
| 3 | g.38587528C>A | CA352143456 | SCN5A | c.2308G>T (p.Ala770Ser) c.2179G>T (p.Ala727Ser) | |
| 3 | g.38587528C>G | CA352143457 | SCN5A | c.2308G>C (p.Ala770Pro) c.2179G>C (p.Ala727Pro) | |
| 3 | g.38587528C>T | CA352143458 | SCN5A | c.2308G>A (p.Ala770Thr) c.2179G>A (p.Ala727Thr) | |
| 3 | g.38587529A>C | CA352143459 | SCN5A | c.2307T>G (p.Ile769Met) c.2178T>G (p.Ile726Met) | |
| 3 | g.38587529A>G | CA433136378 | SCN5A | c.2307T>C (p.Ile769=) c.2178T>C (p.Ile726=) | |
| 3 | g.38587529A>T | CA433136379 | SCN5A | c.2307T>A (p.Ile769=) c.2178T>A (p.Ile726=) | |
| 3 | g.38587530A>C | CA352143460 | SCN5A | c.2306T>G (p.Ile769Ser) c.2177T>G (p.Ile726Ser) | |
| 3 | g.38587530A>G | CA352143461 | SCN5A | c.2306T>C (p.Ile769Thr) c.2177T>C (p.Ile726Thr) | |
| 3 | g.38587530A>T | CA352143462 | SCN5A | c.2306T>A (p.Ile769Asn) c.2177T>A (p.Ile726Asn) | |
| 3 | g.38587531T>A | CA352143465 | SCN5A | c.2305A>T (p.Ile769Phe) c.2176A>T (p.Ile726Phe) | |
| 3 | g.38587531T>C | CA352143464 | SCN5A | c.2305A>G (p.Ile769Val) c.2176A>G (p.Ile726Val) | |
| 3 | g.38587531T>G | CA352143463 | SCN5A | c.2305A>C (p.Ile769Leu) c.2176A>C (p.Ile726Leu) | |
| 3 | g.38587532G>A | CA433136381 | SCN5A | c.2304C>T (p.Ile768=) c.2175C>T (p.Ile725=) | |
| 3 | g.38587532G>C | CA352143466 | SCN5A | c.2304C>G (p.Ile768Met) c.2175C>G (p.Ile725Met) | |
| 3 | g.38587532G>T | CA433136382 | SCN5A | c.2304C>A (p.Ile768=) c.2175C>A (p.Ile725=) | |
| 3 | g.38587533A>C | CA352143467 | SCN5A | c.2303T>G (p.Ile768Ser) c.2174T>G (p.Ile725Ser) | |
| 3 | g.38587533A>G | CA352143468 | SCN5A | c.2303T>C (p.Ile768Thr) c.2174T>C (p.Ile725Thr) | |
| 3 | g.38587533A>T | CA352143469 | SCN5A | c.2303T>A (p.Ile768Asn) c.2174T>A (p.Ile725Asn) | |
| 3 | g.38587534T>A | CA352143470 | SCN5A | c.2302A>T (p.Ile768Phe) c.2173A>T (p.Ile725Phe) | |
| 3 | g.38587534T>C | CA352143471 | SCN5A | c.2302A>G (p.Ile768Val) c.2173A>G (p.Ile725Val) | ClinVar dbSNP |
| 3 | g.38587534T>G | CA352143472 | SCN5A | c.2302A>C (p.Ile768Leu) c.2173A>C (p.Ile725Leu) | |
| 3 | g.38587535C>A | CA352143473 | SCN5A | c.2301G>T (p.Lys767Asn) c.2172G>T (p.Lys724Asn) | gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38587535C>G | CA352143474 | SCN5A | c.2301G>C (p.Lys767Asn) c.2172G>C (p.Lys724Asn) | |
| 3 | g.38587535C>T | CA433136384 | SCN5A | c.2301G>A (p.Lys767=) c.2172G>A (p.Lys724=) | |
| 3 | g.38587536T>A | CA352143475 | SCN5A | c.2300A>T (p.Lys767Met) c.2171A>T (p.Lys724Met) | |
| 3 | g.38587536T>C | CA352143476 | SCN5A | c.2300A>G (p.Lys767Arg) c.2171A>G (p.Lys724Arg) | ClinVar gnomAD v4 |
| 3 | g.38587536T>G | CA352143477 | SCN5A | c.2300A>C (p.Lys767Thr) c.2171A>C (p.Lys724Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38587536T= | CA1358578196 | SCN5A | c.2300A= (p.Lys767=) c.2171A= (p.Lys724=) | |
| 3 | g.38587537T>A | CA352143479 | SCN5A | c.2299A>T (p.Lys767Ter) c.2170A>T (p.Lys724Ter) | dbSNP |
| 3 | g.38587537T>C | CA352143480 | SCN5A | c.2299A>G (p.Lys767Glu) c.2170A>G (p.Lys724Glu) | |
| 3 | g.38587537T>G | CA352143478 | SCN5A | c.2299A>C (p.Lys767Gln) c.2170A>C (p.Lys724Gln) | |
| 3 | g.38587537T= | CA1358578197 | SCN5A | c.2299A= (p.Lys767=) c.2170A= (p.Lys724=) | |
| 3 | g.38587538G>A | CA433136385 | SCN5A | c.2298C>T (p.Phe766=) c.2169C>T (p.Phe723=) | |
| 3 | g.38587538G>C | CA352143481 | SCN5A | c.2298C>G (p.Phe766Leu) c.2169C>G (p.Phe723Leu) | |
| 3 | g.38587538G>T | CA352143482 | SCN5A | c.2298C>A (p.Phe766Leu) c.2169C>A (p.Phe723Leu) | |
| 3 | g.38587538dup | CA915942301 | SCN5A | c.2298dup (p.Lys767GlnfsTer26) c.2169dup (p.Lys724GlnfsTer26) | ClinVar dbSNP |
| 3 | g.38587539A= | CA1358578198 | SCN5A | c.2297T= (p.Phe766=) c.2168T= (p.Phe723=) | |
| 3 | g.38587539A>C | CA352143483 | SCN5A | c.2297T>G (p.Phe766Cys) c.2168T>G (p.Phe723Cys) | |
| 3 | g.38587539A>G | CA352143484 | SCN5A | c.2297T>C (p.Phe766Ser) c.2168T>C (p.Phe723Ser) | dbSNP |
| 3 | g.38587539A>T | CA352143485 | SCN5A | c.2297T>A (p.Phe766Tyr) c.2168T>A (p.Phe723Tyr) | |
| 3 | g.38587540A>C | CA352143488 | SCN5A | c.2296T>G (p.Phe766Val) c.2167T>G (p.Phe723Val) | |
| 3 | g.38587540A>G | CA352143486 | SCN5A | c.2296T>C (p.Phe766Leu) c.2167T>C (p.Phe723Leu) | |
| 3 | g.38587540A>T | CA352143487 | SCN5A | c.2296T>A (p.Phe766Ile) c.2167T>A (p.Phe723Ile) | |
| 3 | g.38587541G>A | CA433136389 | SCN5A | c.2295C>T (p.Thr765=) c.2166C>T (p.Thr722=) | COSMIC |
| 3 | g.38587541G>C | CA433136390 | SCN5A | c.2295C>G (p.Thr765=) c.2166C>G (p.Thr722=) | |
| 3 | g.38587541G>T | CA433136391 | SCN5A | c.2295C>A (p.Thr765=) c.2166C>A (p.Thr722=) | |
| 3 | g.38587542G>A | CA352143489 | SCN5A | c.2294C>T (p.Thr765Ile) c.2165C>T (p.Thr722Ile) | ClinVar dbSNP |
| 3 | g.38587542G>C | CA352143490 | SCN5A | c.2294C>G (p.Thr765Ser) c.2165C>G (p.Thr722Ser) | |
| 3 | g.38587542G= | CA1358578199 | SCN5A | c.2294C= (p.Thr765=) c.2165C= (p.Thr722=) | |
| 3 | g.38587542G>T | CA352143491 | SCN5A | c.2294C>A (p.Thr765Asn) c.2165C>A (p.Thr722Asn) | |
| 3 | g.38587543T>A | CA352143492 | SCN5A | c.2293A>T (p.Thr765Ser) c.2164A>T (p.Thr722Ser) | |
| 3 | g.38587543T>C | CA352143493 | SCN5A | c.2293A>G (p.Thr765Ala) c.2164A>G (p.Thr722Ala) | COSMIC COSMIC COSMIC |
| 3 | g.38587543T>G | CA352143494 | SCN5A | c.2293A>C (p.Thr765Pro) c.2164A>C (p.Thr722Pro) | |
| 3 | g.38587544C>A | CA352143496 | SCN5A | c.2292G>T (p.Met764Ile) c.2163G>T (p.Met721Ile) | gnomAD v4 |
| 3 | g.38587544C>G | CA352143497 | SCN5A | c.2292G>C (p.Met764Ile) c.2163G>C (p.Met721Ile) | |
| 3 | g.38587544C>T | CA352143495 | SCN5A | c.2292G>A (p.Met764Ile) c.2163G>A (p.Met721Ile) | gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38587545A= | CA1358578200 | SCN5A | c.2291T= (p.Met764=) c.2162T= (p.Met721=) | |
| 3 | g.38587545A>C | CA016048 | SCN5A | c.2291T>G (p.Met764Arg) c.2162T>G (p.Met721Arg) | ClinVar dbSNP |
| 3 | g.38587545A>G | CA016037 | SCN5A | c.2291T>C (p.Met764Thr) c.2162T>C (p.Met721Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38587545A>T | CA352143498 | SCN5A | c.2291T>A (p.Met764Lys) c.2162T>A (p.Met721Lys) | |
| 3 | g.38587546T>A | CA352143499 | SCN5A | c.2290A>T (p.Met764Leu) c.2161A>T (p.Met721Leu) | |
| 3 | g.38587546T>C | CA352143500 | SCN5A | c.2290A>G (p.Met764Val) c.2161A>G (p.Met721Val) | |
| 3 | g.38587546T>G | CA352143501 | SCN5A | c.2290A>C (p.Met764Leu) c.2161A>C (p.Met721Leu) | |
| 3 | g.38587547C>A | CA352143502 | SCN5A | c.2289G>T (p.Glu763Asp) c.2160G>T (p.Glu720Asp) | |
| 3 | g.38587547C= | CA1358578201 | SCN5A | c.2289G= (p.Glu763=) c.2160G= (p.Glu720=) | |
| 3 | g.38587547C>G | CA060194 | SCN5A | c.2289G>C (p.Glu763Asp) c.2160G>C (p.Glu720Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38587547C>T | CA433136394 | SCN5A | c.2289G>A (p.Glu763=) c.2160G>A (p.Glu720=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38587548T>A | CA352143503 | SCN5A | c.2288A>T (p.Glu763Val) c.2159A>T (p.Glu720Val) | |
| 3 | g.38587548T>C | CA352143504 | SCN5A | c.2288A>G (p.Glu763Gly) c.2159A>G (p.Glu720Gly) | |
| 3 | g.38587548T>G | CA352143505 | SCN5A | c.2288A>C (p.Glu763Ala) c.2159A>C (p.Glu720Ala) | |
| 3 | g.38587549C>A | CA352143506 | SCN5A | c.2287G>T (p.Glu763Ter) c.2158G>T (p.Glu720Ter) | dbSNP |
| 3 | g.38587549C= | CA1358578202 | SCN5A | c.2287G= (p.Glu763=) c.2158G= (p.Glu720=) | |
| 3 | g.38587549C>G | CA352143507 | SCN5A | c.2287G>C (p.Glu763Gln) c.2158G>C (p.Glu720Gln) | |
| 3 | g.38587549C>T | CA060186 | SCN5A | c.2287G>A (p.Glu763Lys) c.2158G>A (p.Glu720Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38587550T>A | CA433136395 | SCN5A | c.2286A>T (p.Ala762=) c.2157A>T (p.Ala719=) | dbSNP |
| 3 | g.38587550T>C | CA433136396 | SCN5A | c.2286A>G (p.Ala762=) c.2157A>G (p.Ala719=) | |
| 3 | g.38587550T>G | CA433136397 | SCN5A | c.2286A>C (p.Ala762=) c.2157A>C (p.Ala719=) | |
| 3 | g.38587550T= | CA1358578203 | SCN5A | c.2286A= (p.Ala762=) c.2157A= (p.Ala719=) | |
| 3 | g.38587551G>A | CA352143510 | SCN5A | c.2285C>T (p.Ala762Val) c.2156C>T (p.Ala719Val) | |
| 3 | g.38587551G>C | CA352143509 | SCN5A | c.2285C>G (p.Ala762Gly) c.2156C>G (p.Ala719Gly) | |
| 3 | g.38587551G>T | CA352143508 | SCN5A | c.2285C>A (p.Ala762Glu) c.2156C>A (p.Ala719Glu) | |
| 3 | g.38587552C>A | CA352143511 | SCN5A | c.2284G>T (p.Ala762Ser) c.2155G>T (p.Ala719Ser) | |
| 3 | g.38587552C>G | CA352143512 | SCN5A | c.2284G>C (p.Ala762Pro) c.2155G>C (p.Ala719Pro) | |
| 3 | g.38587552C>T | CA352143513 | SCN5A | c.2284G>A (p.Ala762Thr) c.2155G>A (p.Ala719Thr) | |
| 3 | g.38587553T>A | CA433136399 | SCN5A | c.2283A>T (p.Thr761=) c.2154A>T (p.Thr718=) | |
| 3 | g.38587553T>C | CA433136400 | SCN5A | c.2283A>G (p.Thr761=) c.2154A>G (p.Thr718=) | |
| 3 | g.38587553T>G | CA433136401 | SCN5A | c.2283A>C (p.Thr761=) c.2154A>C (p.Thr718=) | |
| 3 | g.38587554G>A | CA352143514 | SCN5A | c.2282C>T (p.Thr761Ile) c.2153C>T (p.Thr718Ile) | |
| 3 | g.38587554G>C | CA352143515 | SCN5A | c.2282C>G (p.Thr761Arg) c.2153C>G (p.Thr718Arg) | |
| 3 | g.38587554G>T | CA352143516 | SCN5A | c.2282C>A (p.Thr761Lys) c.2153C>A (p.Thr718Lys) | |
| 3 | g.38587555T>A | CA352143517 | SCN5A | c.2281A>T (p.Thr761Ser) c.2152A>T (p.Thr718Ser) | |
| 3 | g.38587555T>C | CA352143518 | SCN5A | c.2281A>G (p.Thr761Ala) c.2152A>G (p.Thr718Ala) | |
| 3 | g.38587555T>G | CA352143519 | SCN5A | c.2281A>C (p.Thr761Pro) c.2152A>C (p.Thr718Pro) | |
| 3 | g.38587556G>A | CA2319559 | SCN5A | c.2280C>T (p.Phe760=) c.2151C>T (p.Phe717=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38587556G>C | CA352143520 | SCN5A | c.2280C>G (p.Phe760Leu) c.2151C>G (p.Phe717Leu) | |
| 3 | g.38587556G= | CA1358578204 | SCN5A | c.2280C= (p.Phe760=) c.2151C= (p.Phe717=) | |
| 3 | g.38587556G>T | CA352143521 | SCN5A | c.2280C>A (p.Phe760Leu) c.2151C>A (p.Phe717Leu) | |
| 3 | g.38587556_38587557delinsGA | CA1358578205 | SCN5A | c.2279_2280delinsTC (p.Phe760=) c.2150_2151delinsTC (p.Phe717=) | |
| 3 | g.38587557A>C | CA352143523 | SCN5A | c.2279T>G (p.Phe760Cys) c.2150T>G (p.Phe717Cys) | |
| 3 | g.38587557A>G | CA352143524 | SCN5A | c.2279T>C (p.Phe760Ser) c.2150T>C (p.Phe717Ser) | |
| 3 | g.38587557A>T | CA352143522 | SCN5A | c.2279T>A (p.Phe760Tyr) c.2150T>A (p.Phe717Tyr) | |
| 3 | g.38587560del | CA2319560 | SCN5A | c.2279del (p.Phe760SerfsTer5) c.2150del (p.Phe717SerfsTer5) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38587558A>C | CA352143525 | SCN5A | c.2278T>G (p.Phe760Val) c.2149T>G (p.Phe717Val) | |
| 3 | g.38587558A>G | CA352143526 | SCN5A | c.2278T>C (p.Phe760Leu) c.2149T>C (p.Phe717Leu) | |
| 3 | g.38587558A>T | CA352143527 | SCN5A | c.2278T>A (p.Phe760Ile) c.2149T>A (p.Phe717Ile) | |
| 3 | g.38587559A>C | CA352143528 | SCN5A | c.2277T>G (p.Ile759Met) c.2148T>G (p.Ile716Met) | |
| 3 | g.38587559A>G | CA433136404 | SCN5A | c.2277T>C (p.Ile759=) c.2148T>C (p.Ile716=) | |
| 3 | g.38587559A>T | CA433136405 | SCN5A | c.2277T>A (p.Ile759=) c.2148T>A (p.Ile716=) | |
| 3 | g.38587560A>C | CA352143529 | SCN5A | c.2276T>G (p.Ile759Ser) c.2147T>G (p.Ile716Ser) | |
| 3 | g.38587560A>G | CA352143530 | SCN5A | c.2276T>C (p.Ile759Thr) c.2147T>C (p.Ile716Thr) | |
| 3 | g.38587560A>T | CA352143531 | SCN5A | c.2276T>A (p.Ile759Asn) c.2147T>A (p.Ile716Asn) | |
| 3 | g.38587561T>A | CA016025 | SCN5A | c.2275A>T (p.Ile759Phe) c.2146A>T (p.Ile716Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38587561T>C | CA060157 | SCN5A | c.2275A>G (p.Ile759Val) c.2146A>G (p.Ile716Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38587561T>G | CA352143532 | SCN5A | c.2275A>C (p.Ile759Leu) c.2146A>C (p.Ile716Leu) | |
| 3 | g.38587561T= | CA1358578206 | SCN5A | c.2275A= (p.Ile759=) c.2146A= (p.Ile716=) | |
| 3 | g.38587562C>A | CA433136407 | SCN5A | c.2274G>T (p.Gly758=) c.2145G>T (p.Gly715=) | |
| 3 | g.38587562C>G | CA433136408 | SCN5A | c.2274G>C (p.Gly758=) c.2145G>C (p.Gly715=) | |
| 3 | g.38587562C>T | CA433136409 | SCN5A | c.2274G>A (p.Gly758=) c.2145G>A (p.Gly715=) | ClinVar COSMIC COSMIC COSMIC |
| 3 | g.38587564del | CA2499216740 | SCN5A | c.2274del (p.Ile759PhefsTer6) c.2145del (p.Ile716PhefsTer6) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38587563C>A | CA352143533 | SCN5A | c.2273G>T (p.Gly758Val) c.2144G>T (p.Gly715Val) | |
| 3 | g.38587563C= | CA1358578207 | SCN5A | c.2273G= (p.Gly758=) c.2144G= (p.Gly715=) | |
| 3 | g.38587563C>G | CA352143534 | SCN5A | c.2273G>C (p.Gly758Ala) c.2144G>C (p.Gly715Ala) | |
| 3 | g.38587563C>T | CA016012 | SCN5A | c.2273G>A (p.Gly758Glu) c.2144G>A (p.Gly715Glu) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38587564C>A | CA352143537 | SCN5A | c.2272G>T (p.Gly758Trp) c.2143G>T (p.Gly715Trp) | gnomAD v4 |
| 3 | g.38587564C>G | CA352143536 | SCN5A | c.2272G>C (p.Gly758Arg) c.2143G>C (p.Gly715Arg) | |
| 3 | g.38587564C>T | CA352143535 | SCN5A | c.2272G>A (p.Gly758Arg) c.2143G>A (p.Gly715Arg) | |
| 3 | g.38587565T>A | CA433136411 | SCN5A | c.2271A>T (p.Thr757=) c.2142A>T (p.Thr714=) | |
| 3 | g.38587565T>C | CA433136412 | SCN5A | c.2271A>G (p.Thr757=) c.2142A>G (p.Thr714=) | |
| 3 | g.38587565T>G | CA433136410 | SCN5A | c.2271A>C (p.Thr757=) c.2142A>C (p.Thr714=) | |
| 3 | g.38587565_38587568del | CA2586972033 | SCN5A | c.2268_2271del (p.Phe756LeufsTer8) c.2139_2142del (p.Phe713LeufsTer8) |