Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38585961del | CA2580069783 | SCN5A | c.2520del (p.Asn841ThrfsTer2) c.2391del (p.Asn798ThrfsTer2) | ClinVar |
3 | g.38585960C>A | CA352142447 | SCN5A | c.2518G>T (p.Gly840Trp) c.2389G>T (p.Gly797Trp) | |
3 | g.38585960C= | CA1358577509 | SCN5A | c.2518G= (p.Gly840=) c.2389G= (p.Gly797=) | |
3 | g.38585960C>G | CA016234 | SCN5A | c.2518G>C (p.Gly840Arg) c.2389G>C (p.Gly797Arg) | ClinVar dbSNP |
3 | g.38585960C>T | CA352142448 | SCN5A | c.2518G>A (p.Gly840Arg) c.2389G>A (p.Gly797Arg) | |
3 | g.38585961C>A | CA433333055 | SCN5A | c.2517G>T (p.Leu839=) c.2388G>T (p.Leu796=) | |
3 | g.38585961C= | CA1358577510 | SCN5A | c.2517G= (p.Leu839=) c.2388G= (p.Leu796=) | |
3 | g.38585961C>G | CA433333056 | SCN5A | c.2517G>C (p.Leu839=) c.2388G>C (p.Leu796=) | |
3 | g.38585961C>T | CA060544 | SCN5A | c.2517G>A (p.Leu839=) c.2388G>A (p.Leu796=) | dbSNP ExAC |
3 | g.38585962A= | CA1358577511 | SCN5A | c.2516T= (p.Leu839=) c.2387T= (p.Leu796=) | |
3 | g.38585962A>C | CA352142451 | SCN5A | c.2516T>G (p.Leu839Arg) c.2387T>G (p.Leu796Arg) | |
3 | g.38585962A>G | CA016228 | SCN5A | c.2516T>C (p.Leu839Pro) c.2387T>C (p.Leu796Pro) | ClinVar dbSNP |
3 | g.38585962A>T | CA352142455 | SCN5A | c.2516T>A (p.Leu839Gln) c.2387T>A (p.Leu796Gln) | |
3 | g.38585963G>A | CA433333058 | SCN5A | c.2515C>T (p.Leu839=) c.2386C>T (p.Leu796=) | |
3 | g.38585963G>C | CA352142458 | SCN5A | c.2515C>G (p.Leu839Val) c.2386C>G (p.Leu796Val) | |
3 | g.38585963G>T | CA352142460 | SCN5A | c.2515C>A (p.Leu839Met) c.2386C>A (p.Leu796Met) | |
3 | g.38585964T>A | CA433333060 | SCN5A | c.2514A>T (p.Ala838=) c.2385A>T (p.Ala795=) | |
3 | g.38585964T>C | CA433333061 | SCN5A | c.2514A>G (p.Ala838=) c.2385A>G (p.Ala795=) | |
3 | g.38585964T>G | CA433333062 | SCN5A | c.2514A>C (p.Ala838=) c.2385A>C (p.Ala795=) | |
3 | g.38585965G>A | CA352142466 | SCN5A | c.2513C>T (p.Ala838Val) c.2384C>T (p.Ala795Val) | gnomAD v4 |
3 | g.38585965G>C | CA352142462 | SCN5A | c.2513C>G (p.Ala838Gly) c.2384C>G (p.Ala795Gly) | |
3 | g.38585965G>T | CA352142464 | SCN5A | c.2513C>A (p.Ala838Glu) c.2384C>A (p.Ala795Glu) | ClinVar |
3 | g.38585966C>A | CA352142468 | SCN5A | c.2512G>T (p.Ala838Ser) c.2383G>T (p.Ala795Ser) | |
3 | g.38585966C= | CA1358577512 | SCN5A | c.2512G= (p.Ala838=) c.2383G= (p.Ala795=) | |
3 | g.38585966C>G | CA352142470 | SCN5A | c.2512G>C (p.Ala838Pro) c.2383G>C (p.Ala795Pro) | |
3 | g.38585966C>T | CA72928748 | SCN5A | c.2512G>A (p.Ala838Thr) c.2383G>A (p.Ala795Thr) | ClinVar dbSNP |
3 | g.38585970dup | CA2755901108 | SCN5A | c.2512dup (p.Ala838GlyfsTer?) c.2383dup (p.Ala795GlyfsTer?) | |
3 | g.38585970del | CA2665113670 | SCN5A | c.2512del (p.Ala838HisfsTer5) c.2383del (p.Ala795HisfsTer5) | gnomAD v4 |
3 | g.38585967C>A | CA433333072 | SCN5A | c.2511G>T (p.Gly837=) c.2382G>T (p.Gly794=) | gnomAD v4 |
3 | g.38585967C>G | CA433333070 | SCN5A | c.2511G>C (p.Gly837=) c.2382G>C (p.Gly794=) | |
3 | g.38585967C>T | CA433333074 | SCN5A | c.2511G>A (p.Gly837=) c.2382G>A (p.Gly794=) | |
3 | g.38585968C>A | CA352142474 | SCN5A | c.2510G>T (p.Gly837Val) c.2381G>T (p.Gly794Val) | |
3 | g.38585968C= | CA1358577513 | SCN5A | c.2510G= (p.Gly837=) c.2381G= (p.Gly794=) | |
3 | g.38585968C>G | CA352142476 | SCN5A | c.2510G>C (p.Gly837Ala) c.2381G>C (p.Gly794Ala) | |
3 | g.38585968C>T | CA352142478 | SCN5A | c.2510G>A (p.Gly837Glu) c.2381G>A (p.Gly794Glu) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38585969C>A | CA352142480 | SCN5A | c.2509G>T (p.Gly837Trp) c.2380G>T (p.Gly794Trp) | |
3 | g.38585969C>G | CA352142481 | SCN5A | c.2509G>C (p.Gly837Arg) c.2380G>C (p.Gly794Arg) | gnomAD v4 |
3 | g.38585969C>T | CA352142483 | SCN5A | c.2509G>A (p.Gly837Arg) c.2380G>A (p.Gly794Arg) | COSMIC COSMIC COSMIC |
3 | g.38585970C>A | CA433333076 | SCN5A | c.2508G>T (p.Val836=) c.2379G>T (p.Val793=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38585970C= | CA1358577514 | SCN5A | c.2508G= (p.Val836=) c.2379G= (p.Val793=) | |
3 | g.38585970C>G | CA433333077 | SCN5A | c.2508G>C (p.Val836=) c.2379G>C (p.Val793=) | |
3 | g.38585970C>T | CA433333078 | SCN5A | c.2508G>A (p.Val836=) c.2379G>A (p.Val793=) | gnomAD v4 |
3 | g.38585971A>C | CA352142486 | SCN5A | c.2507T>G (p.Val836Gly) c.2378T>G (p.Val793Gly) | |
3 | g.38585971A>G | CA352142488 | SCN5A | c.2507T>C (p.Val836Ala) c.2378T>C (p.Val793Ala) | |
3 | g.38585971A>T | CA352142489 | SCN5A | c.2507T>A (p.Val836Glu) c.2378T>A (p.Val793Glu) | |
3 | g.38585971_38585973dup | CA2580069784 | SCN5A | c.2505_2507dup (p.Val836_Gly837insVal) c.2376_2378dup (p.Val793_Gly794insVal) | ClinVar |
3 | g.38585972C>A | CA352142492 | SCN5A | c.2506G>T (p.Val836Leu) c.2377G>T (p.Val793Leu) | gnomAD v4 |
3 | g.38585972C= | CA1358577515 | SCN5A | c.2506G= (p.Val836=) c.2377G= (p.Val793=) | |
3 | g.38585972C>G | CA352142495 | SCN5A | c.2506G>C (p.Val836Leu) c.2377G>C (p.Val793Leu) | |
3 | g.38585972C>T | CA060533 | SCN5A | c.2506G>A (p.Val836Met) c.2377G>A (p.Val793Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |