OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38585935_38585937del | CA2586972027 | SCN5A | c.2545_2547del (p.Ile849del) c.2416_2418del (p.Ile806del) | ClinVar |
| 3 | g.38585937G>A | CA433332974 | SCN5A | c.2541C>T (p.Ala847=) c.2412C>T (p.Ala804=) | |
| 3 | g.38585937G>C | CA433332976 | SCN5A | c.2541C>G (p.Ala847=) c.2412C>G (p.Ala804=) | |
| 3 | g.38585937G= | CA1358577499 | SCN5A | c.2541C= (p.Ala847=) c.2412C= (p.Ala804=) | |
| 3 | g.38585937G>T | CA060581 | SCN5A | c.2541C>A (p.Ala847=) c.2412C>A (p.Ala804=) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.38585938del | CA2580069781 | SCN5A | c.2541del (p.Ile848SerfsTer21) c.2412del (p.Ile805SerfsTer21) | ClinVar |
| 3 | g.38585938G>A | CA352142356 | SCN5A | c.2540C>T (p.Ala847Val) c.2411C>T (p.Ala804Val) | |
| 3 | g.38585938G>C | CA352142357 | SCN5A | c.2540C>G (p.Ala847Gly) c.2411C>G (p.Ala804Gly) | |
| 3 | g.38585938G>T | CA352142359 | SCN5A | c.2540C>A (p.Ala847Asp) c.2411C>A (p.Ala804Asp) | ClinVar |
| 3 | g.38585938_38585940del | CA2697550830 | SCN5A | c.2538_2540del (p.Ala847del) c.2409_2411del (p.Ala804del) | ClinVar |
| 3 | g.38585939C>A | CA352142362 | SCN5A | c.2539G>T (p.Ala847Ser) c.2410G>T (p.Ala804Ser) | |
| 3 | g.38585939C>G | CA352142364 | SCN5A | c.2539G>C (p.Ala847Pro) c.2410G>C (p.Ala804Pro) | |
| 3 | g.38585939C>T | CA352142366 | SCN5A | c.2539G>A (p.Ala847Thr) c.2410G>A (p.Ala804Thr) | |
| 3 | g.38585940T>A | CA433332984 | SCN5A | c.2538A>T (p.Leu846=) c.2409A>T (p.Leu803=) | |
| 3 | g.38585940T>C | CA433332982 | SCN5A | c.2538A>G (p.Leu846=) c.2409A>G (p.Leu803=) | |
| 3 | g.38585940T>G | CA433332983 | SCN5A | c.2538A>C (p.Leu846=) c.2409A>C (p.Leu803=) | |
| 3 | g.38585941A>C | CA352142368 | SCN5A | c.2537T>G (p.Leu846Arg) c.2408T>G (p.Leu803Arg) | |
| 3 | g.38585941A>G | CA352142370 | SCN5A | c.2537T>C (p.Leu846Pro) c.2408T>C (p.Leu803Pro) | |
| 3 | g.38585941A>T | CA352142372 | SCN5A | c.2537T>A (p.Leu846Gln) c.2408T>A (p.Leu803Gln) | |
| 3 | g.38585942G>A | CA433332991 | SCN5A | c.2536C>T (p.Leu846=) c.2407C>T (p.Leu803=) | |
| 3 | g.38585942G>C | CA352142374 | SCN5A | c.2536C>G (p.Leu846Val) c.2407C>G (p.Leu803Val) | |
| 3 | g.38585942G>T | CA352142376 | SCN5A | c.2536C>A (p.Leu846Ile) c.2407C>A (p.Leu803Ile) | |
| 3 | g.38585943C>A | CA433332995 | SCN5A | c.2535G>T (p.Val845=) c.2406G>T (p.Val802=) | |
| 3 | g.38585943C>G | CA433332996 | SCN5A | c.2535G>C (p.Val845=) c.2406G>C (p.Val802=) | |
| 3 | g.38585943C>T | CA433332997 | SCN5A | c.2535G>A (p.Val845=) c.2406G>A (p.Val802=) | |
| 3 | g.38585944A>C | CA352142381 | SCN5A | c.2534T>G (p.Val845Gly) c.2405T>G (p.Val802Gly) | |
| 3 | g.38585944A>G | CA352142383 | SCN5A | c.2534T>C (p.Val845Ala) c.2405T>C (p.Val802Ala) | |
| 3 | g.38585944A>T | CA352142379 | SCN5A | c.2534T>A (p.Val845Glu) c.2405T>A (p.Val802Glu) | |
| 3 | g.38585944_38585945delinsAC | CA1358577500 | SCN5A | c.2533_2534delinsGT (p.Val845=) c.2404_2405delinsGT (p.Val802=) | |
| 3 | g.38585945C>A | CA352142386 | SCN5A | c.2533G>T (p.Val845Leu) c.2404G>T (p.Val802Leu) | |
| 3 | g.38585945C>G | CA352142388 | SCN5A | c.2533G>C (p.Val845Leu) c.2404G>C (p.Val802Leu) | gnomAD v4 |
| 3 | g.38585945C>T | CA352142391 | SCN5A | c.2533G>A (p.Val845Met) c.2404G>A (p.Val802Met) | |
| 3 | g.38585946dup | CA2573136291 | SCN5A | c.2533dup (p.Val845GlyfsTer?) c.2404dup (p.Val802GlyfsTer?) | ClinVar dbSNP |
| 3 | g.38585946del | CA016249 | SCN5A | c.2533del (p.Val845CysfsTer2) c.2404del (p.Val802CysfsTer2) | ClinVar dbSNP |
| 3 | g.38585946C>A | CA433333017 | SCN5A | c.2532G>T (p.Leu844=) c.2403G>T (p.Leu801=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38585946C= | CA1358577501 | SCN5A | c.2532G= (p.Leu844=) c.2403G= (p.Leu801=) | |
| 3 | g.38585946C>G | CA433333015 | SCN5A | c.2532G>C (p.Leu844=) c.2403G>C (p.Leu801=) | |
| 3 | g.38585946C>T | CA433333016 | SCN5A | c.2532G>A (p.Leu844=) c.2403G>A (p.Leu801=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38585947A>C | CA352142397 | SCN5A | c.2531T>G (p.Leu844Arg) c.2402T>G (p.Leu801Arg) | |
| 3 | g.38585947A>G | CA352142396 | SCN5A | c.2531T>C (p.Leu844Pro) c.2402T>C (p.Leu801Pro) | |
| 3 | g.38585947A>T | CA352142394 | SCN5A | c.2531T>A (p.Leu844Gln) c.2402T>A (p.Leu801Gln) | |
| 3 | g.38585948G>A | CA433333023 | SCN5A | c.2530C>T (p.Leu844=) c.2401C>T (p.Leu801=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38585948G>C | CA352142398 | SCN5A | c.2530C>G (p.Leu844Val) c.2401C>G (p.Leu801Val) | COSMIC COSMIC COSMIC |
| 3 | g.38585948G= | CA1358577502 | SCN5A | c.2530C= (p.Leu844=) c.2401C= (p.Leu801=) | |
| 3 | g.38585948G>T | CA352142399 | SCN5A | c.2530C>A (p.Leu844Met) c.2401C>A (p.Leu801Met) | |
| 3 | g.38585949T>A | CA433333027 | SCN5A | c.2529A>T (p.Thr843=) c.2400A>T (p.Thr800=) | |
| 3 | g.38585949T>C | CA060560 | SCN5A | c.2529A>G (p.Thr843=) c.2400A>G (p.Thr800=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38585949T>G | CA433333028 | SCN5A | c.2529A>C (p.Thr843=) c.2400A>C (p.Thr800=) | |
| 3 | g.38585949T= | CA1358577503 | SCN5A | c.2529A= (p.Thr843=) c.2400A= (p.Thr800=) | |
| 3 | g.38585950G>A | CA352142403 | SCN5A | c.2528C>T (p.Thr843Ile) c.2399C>T (p.Thr800Ile) | COSMIC COSMIC COSMIC |
| 3 | g.38585950G>C | CA352142404 | SCN5A | c.2528C>G (p.Thr843Arg) c.2399C>G (p.Thr800Arg) | |
| 3 | g.38585950G>T | CA352142407 | SCN5A | c.2528C>A (p.Thr843Lys) c.2399C>A (p.Thr800Lys) | |
| 3 | g.38585951T>A | CA352142409 | SCN5A | c.2527A>T (p.Thr843Ser) c.2398A>T (p.Thr800Ser) | |
| 3 | g.38585951T>C | CA016243 | SCN5A | c.2527A>G (p.Thr843Ala) c.2398A>G (p.Thr800Ala) | ClinVar dbSNP |
| 3 | g.38585951T>G | CA352142408 | SCN5A | c.2527A>C (p.Thr843Pro) c.2398A>C (p.Thr800Pro) | |
| 3 | g.38585951T= | CA1358577504 | SCN5A | c.2527A= (p.Thr843=) c.2398A= (p.Thr800=) | |
| 3 | g.38585952C>A | CA433333033 | SCN5A | c.2526G>T (p.Leu842=) c.2397G>T (p.Leu799=) | |
| 3 | g.38585952C>G | CA433333034 | SCN5A | c.2526G>C (p.Leu842=) c.2397G>C (p.Leu799=) | |
| 3 | g.38585952C>T | CA433333035 | SCN5A | c.2526G>A (p.Leu842=) c.2397G>A (p.Leu799=) | |
| 3 | g.38585953A>C | CA352142412 | SCN5A | c.2525T>G (p.Leu842Arg) c.2396T>G (p.Leu799Arg) | |
| 3 | g.38585953A>G | CA352142415 | SCN5A | c.2525T>C (p.Leu842Pro) c.2396T>C (p.Leu799Pro) | |
| 3 | g.38585953A>T | CA352142413 | SCN5A | c.2525T>A (p.Leu842Gln) c.2396T>A (p.Leu799Gln) | |
| 3 | g.38585954G>A | CA433333040 | SCN5A | c.2524C>T (p.Leu842=) c.2395C>T (p.Leu799=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38585954G>C | CA352142418 | SCN5A | c.2524C>G (p.Leu842Val) c.2395C>G (p.Leu799Val) | |
| 3 | g.38585954G= | CA1358577505 | SCN5A | c.2524C= (p.Leu842=) c.2395C= (p.Leu799=) | |
| 3 | g.38585954G>T | CA352142420 | SCN5A | c.2524C>A (p.Leu842Met) c.2395C>A (p.Leu799Met) | |
| 3 | g.38585955G>A | CA433333045 | SCN5A | c.2523C>T (p.Asn841=) c.2394C>T (p.Asn798=) | |
| 3 | g.38585955G>C | CA352142422 | SCN5A | c.2523C>G (p.Asn841Lys) c.2394C>G (p.Asn798Lys) | |
| 3 | g.38585955G= | CA1358577506 | SCN5A | c.2523C= (p.Asn841=) c.2394C= (p.Asn798=) | |
| 3 | g.38585955G>T | CA060551 | SCN5A | c.2523C>A (p.Asn841Lys) c.2394C>A (p.Asn798Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38585956T>A | CA352142426 | SCN5A | c.2522A>T (p.Asn841Ile) c.2393A>T (p.Asn798Ile) | |
| 3 | g.38585956T>C | CA352142430 | SCN5A | c.2522A>G (p.Asn841Ser) c.2393A>G (p.Asn798Ser) | |
| 3 | g.38585956T>G | CA352142428 | SCN5A | c.2522A>C (p.Asn841Thr) c.2393A>C (p.Asn798Thr) | dbSNP |
| 3 | g.38585956T= | CA1358577507 | SCN5A | c.2522A= (p.Asn841=) c.2393A= (p.Asn798=) | |
| 3 | g.38585957T>A | CA352142433 | SCN5A | c.2521A>T (p.Asn841Tyr) c.2392A>T (p.Asn798Tyr) | |
| 3 | g.38585957T>C | CA352142437 | SCN5A | c.2521A>G (p.Asn841Asp) c.2392A>G (p.Asn798Asp) | |
| 3 | g.38585957T>G | CA352142434 | SCN5A | c.2521A>C (p.Asn841His) c.2392A>C (p.Asn798His) | |
| 3 | g.38585958C>A | CA72928710 | SCN5A | c.2520G>T (p.Gly840=) c.2391G>T (p.Gly797=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38585958C= | CA1358577508 | SCN5A | c.2520G= (p.Gly840=) c.2391G= (p.Gly797=) | |
| 3 | g.38585958C>G | CA433333052 | SCN5A | c.2520G>C (p.Gly840=) c.2391G>C (p.Gly797=) | |
| 3 | g.38585958C>T | CA433333053 | SCN5A | c.2520G>A (p.Gly840=) c.2391G>A (p.Gly797=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38585961del | CA2580069783 | SCN5A | c.2520del (p.Asn841ThrfsTer2) c.2391del (p.Asn798ThrfsTer2) | ClinVar |
| 3 | g.38585959C>A | CA352142441 | SCN5A | c.2519G>T (p.Gly840Val) c.2390G>T (p.Gly797Val) | |
| 3 | g.38585959C>G | CA352142442 | SCN5A | c.2519G>C (p.Gly840Ala) c.2390G>C (p.Gly797Ala) | |
| 3 | g.38585959C>T | CA352142444 | SCN5A | c.2519G>A (p.Gly840Glu) c.2390G>A (p.Gly797Glu) | ClinVar gnomAD v4 |
| 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 |
| 3 | g.38585973T>A | CA433333082 | SCN5A | c.2505A>T (p.Ser835=) c.2376A>T (p.Ser792=) | |
| 3 | g.38585973T>C | CA433333086 | SCN5A | c.2505A>G (p.Ser835=) c.2376A>G (p.Ser792=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38585973T>G | CA433333088 | SCN5A | c.2505A>C (p.Ser835=) c.2376A>C (p.Ser792=) | dbSNP gnomAD v4 |
| 3 | g.38585973T= | CA1358577516 | SCN5A | c.2505A= (p.Ser835=) c.2376A= (p.Ser792=) | |
| 3 | g.38585974G>A | CA016213 | SCN5A | c.2504C>T (p.Ser835Leu) c.2375C>T (p.Ser792Leu) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38585974G>C | CA352142498 | SCN5A | c.2504C>G (p.Ser835Ter) c.2375C>G (p.Ser792Ter) | |
| 3 | g.38585974G= | CA1358577517 | SCN5A | c.2504C= (p.Ser835=) c.2375C= (p.Ser792=) | |
| 3 | g.38585974G>T | CA352142500 | SCN5A | c.2504C>A (p.Ser835Ter) c.2375C>A (p.Ser792Ter) | |
| 3 | g.38585975A= | CA1358577518 | SCN5A | c.2503T= (p.Ser835=) c.2374T= (p.Ser792=) | |
| 3 | g.38585975A>C | CA352142502 | SCN5A | c.2503T>G (p.Ser835Ala) c.2374T>G (p.Ser792Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38585975A>G | CA352142504 | SCN5A | c.2503T>C (p.Ser835Pro) c.2374T>C (p.Ser792Pro) | |
| 3 | g.38585975A>T | CA352142506 | SCN5A | c.2503T>A (p.Ser835Thr) c.2374T>A (p.Ser792Thr) | |
| 3 | g.38585976G>A | CA433333091 | SCN5A | c.2502C>T (p.Asn834=) c.2373C>T (p.Asn791=) | gnomAD v3 gnomAD v4 |
| 3 | g.38585976G>C | CA352142508 | SCN5A | c.2502C>G (p.Asn834Lys) c.2373C>G (p.Asn791Lys) | |
| 3 | g.38585976G= | CA1358577519 | SCN5A | c.2502C= (p.Asn834=) c.2373C= (p.Asn791=) | |
| 3 | g.38585976G>T | CA352142510 | SCN5A | c.2502C>A (p.Asn834Lys) c.2373C>A (p.Asn791Lys) | ClinVar dbSNP |
| 3 | g.38585977T>A | CA352142512 | SCN5A | c.2501A>T (p.Asn834Ile) c.2372A>T (p.Asn791Ile) | |
| 3 | g.38585977T>C | CA352142514 | SCN5A | c.2501A>G (p.Asn834Ser) c.2372A>G (p.Asn791Ser) | gnomAD v4 |
| 3 | g.38585977T>G | CA352142515 | SCN5A | c.2501A>C (p.Asn834Thr) c.2372A>C (p.Asn791Thr) | |
| 3 | g.38585978T>A | CA352142520 | SCN5A | c.2500A>T (p.Asn834Tyr) c.2371A>T (p.Asn791Tyr) | |
| 3 | g.38585978T>C | CA352142517 | SCN5A | c.2500A>G (p.Asn834Asp) c.2371A>G (p.Asn791Asp) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38585978T>G | CA352142518 | SCN5A | c.2500A>C (p.Asn834His) c.2371A>C (p.Asn791His) | |
| 3 | g.38585978T= | CA1358577520 | SCN5A | c.2500A= (p.Asn834=) c.2371A= (p.Asn791=) | |
| 3 | g.38585979C>A | CA433333095 | SCN5A | c.2499G>T (p.Gly833=) c.2370G>T (p.Gly790=) | |
| 3 | g.38585979C>G | CA433333096 | SCN5A | c.2499G>C (p.Gly833=) c.2370G>C (p.Gly790=) | |
| 3 | g.38585979C>T | CA433333097 | SCN5A | c.2499G>A (p.Gly833=) c.2370G>A (p.Gly790=) | gnomAD v4 |
| 3 | g.38585980C>A | CA352142521 | SCN5A | c.2498G>T (p.Gly833Val) c.2369G>T (p.Gly790Val) | |
| 3 | g.38585980C>G | CA352142522 | SCN5A | c.2498G>C (p.Gly833Ala) c.2369G>C (p.Gly790Ala) | |
| 3 | g.38585980C>T | CA352142524 | SCN5A | c.2498G>A (p.Gly833Glu) c.2369G>A (p.Gly790Glu) | |
| 3 | g.38585981C>A | CA352142526 | SCN5A | c.2497G>T (p.Gly833Trp) c.2368G>T (p.Gly790Trp) | |
| 3 | g.38585981C= | CA1358577521 | SCN5A | c.2497G= (p.Gly833=) c.2368G= (p.Gly790=) | |
| 3 | g.38585981C>G | CA352142529 | SCN5A | c.2497G>C (p.Gly833Arg) c.2368G>C (p.Gly790Arg) | |
| 3 | g.38585981C>T | CA016206 | SCN5A | c.2497G>A (p.Gly833Arg) c.2368G>A (p.Gly790Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38585982G>A | CA060520 | SCN5A | c.2496C>T (p.Ile832=) c.2367C>T (p.Ile789=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38585982G>C | CA352142531 | SCN5A | c.2496C>G (p.Ile832Met) c.2367C>G (p.Ile789Met) | ClinVar dbSNP |
| 3 | g.38585982G= | CA1358577522 | SCN5A | c.2496C= (p.Ile832=) c.2367C= (p.Ile789=) | |
| 3 | g.38585982G>T | CA433333102 | SCN5A | c.2496C>A (p.Ile832=) c.2367C>A (p.Ile789=) | |
| 3 | g.38585983A>C | CA352142533 | SCN5A | c.2495T>G (p.Ile832Ser) c.2366T>G (p.Ile789Ser) | |
| 3 | g.38585983A>G | CA352142536 | SCN5A | c.2495T>C (p.Ile832Thr) c.2366T>C (p.Ile789Thr) | |
| 3 | g.38585983A>T | CA352142538 | SCN5A | c.2495T>A (p.Ile832Asn) c.2366T>A (p.Ile789Asn) | |
| 3 | g.38585984T>A | CA352142543 | SCN5A | c.2494A>T (p.Ile832Phe) c.2365A>T (p.Ile789Phe) | |
| 3 | g.38585984T>C | CA352142545 | SCN5A | c.2494A>G (p.Ile832Val) c.2365A>G (p.Ile789Val) | |
| 3 | g.38585984T>G | CA352142541 | SCN5A | c.2494A>C (p.Ile832Leu) c.2365A>C (p.Ile789Leu) | |
| 3 | g.38585985G>A | CA433333106 | SCN5A | c.2493C>T (p.Ile831=) c.2364C>T (p.Ile788=) | COSMIC COSMIC COSMIC |
| 3 | g.38585985G>C | CA352142547 | SCN5A | c.2493C>G (p.Ile831Met) c.2364C>G (p.Ile788Met) | |
| 3 | g.38585985G>T | CA433333107 | SCN5A | c.2493C>A (p.Ile831=) c.2364C>A (p.Ile788=) | |
| 3 | g.38585986A>C | CA352142549 | SCN5A | c.2492T>G (p.Ile831Ser) c.2363T>G (p.Ile788Ser) | |
| 3 | g.38585986A>G | CA352142551 | SCN5A | c.2492T>C (p.Ile831Thr) c.2363T>C (p.Ile788Thr) | |
| 3 | g.38585986A>T | CA352142553 | SCN5A | c.2492T>A (p.Ile831Asn) c.2363T>A (p.Ile788Asn) | |
| 3 | g.38585987T>A | CA352142556 | SCN5A | c.2491A>T (p.Ile831Phe) c.2362A>T (p.Ile788Phe) | gnomAD v4 |
| 3 | g.38585987T>C | CA352142558 | SCN5A | c.2491A>G (p.Ile831Val) c.2362A>G (p.Ile788Val) | |
| 3 | g.38585987T>G | CA352142560 | SCN5A | c.2491A>C (p.Ile831Leu) c.2362A>C (p.Ile788Leu) | |
| 3 | g.38585988C>A | CA352142562 | SCN5A | c.2490G>T (p.Lys830Asn) c.2361G>T (p.Lys787Asn) | |
| 3 | g.38585988C>G | CA352142564 | SCN5A | c.2490G>C (p.Lys830Asn) c.2361G>C (p.Lys787Asn) | |
| 3 | g.38585988C>T | CA433332599 | SCN5A | c.2490G>A (p.Lys830=) c.2361G>A (p.Lys787=) | |
| 3 | g.38585989T>A | CA352142566 | SCN5A | c.2489A>T (p.Lys830Met) c.2360A>T (p.Lys787Met) | |
| 3 | g.38585989T>C | CA352142571 | SCN5A | c.2489A>G (p.Lys830Arg) c.2360A>G (p.Lys787Arg) | |
| 3 | g.38585989T>G | CA352142573 | SCN5A | c.2489A>C (p.Lys830Thr) c.2360A>C (p.Lys787Thr) | |
| 3 | g.38585990T>A | CA352142576 | SCN5A | c.2488A>T (p.Lys830Ter) c.2359A>T (p.Lys787Ter) | dbSNP |
| 3 | g.38585990T>C | CA352142578 | SCN5A | c.2488A>G (p.Lys830Glu) c.2359A>G (p.Lys787Glu) | |
| 3 | g.38585990T>G | CA352142579 | SCN5A | c.2488A>C (p.Lys830Gln) c.2359A>C (p.Lys787Gln) | |
| 3 | g.38585990T= | CA1358577523 | SCN5A | c.2488A= (p.Lys830=) c.2359A= (p.Lys787=) | |
| 3 | g.38585991G>A | CA433332606 | SCN5A | c.2487C>T (p.Ile829=) c.2358C>T (p.Ile786=) | |
| 3 | g.38585991G>C | CA352142582 | SCN5A | c.2487C>G (p.Ile829Met) c.2358C>G (p.Ile786Met) | |
| 3 | g.38585991G>T | CA433332604 | SCN5A | c.2487C>A (p.Ile829=) c.2358C>A (p.Ile786=) | gnomAD v4 |
| 3 | g.38585992A= | CA1358577524 | SCN5A | c.2486T= (p.Ile829=) c.2357T= (p.Ile786=) | |
| 3 | g.38585992A>C | CA352142584 | SCN5A | c.2486T>G (p.Ile829Ser) c.2357T>G (p.Ile786Ser) | |
| 3 | g.38585992A>G | CA352142586 | SCN5A | c.2486T>C (p.Ile829Thr) c.2357T>C (p.Ile786Thr) | |
| 3 | g.38585992A>T | CA352142588 | SCN5A | c.2486T>A (p.Ile829Asn) c.2357T>A (p.Ile786Asn) | dbSNP |
| 3 | g.38585993T>A | CA352142590 | SCN5A | c.2485A>T (p.Ile829Phe) c.2356A>T (p.Ile786Phe) | |
| 3 | g.38585993T>C | CA352142592 | SCN5A | c.2485A>G (p.Ile829Val) c.2356A>G (p.Ile786Val) | ClinVar |
| 3 | g.38585993T>G | CA352142594 | SCN5A | c.2485A>C (p.Ile829Leu) c.2356A>C (p.Ile786Leu) | |
| 3 | g.38585994G>A | CA72928759 | SCN5A | c.2484C>T (p.Leu828=) c.2355C>T (p.Leu785=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38585994G>C | CA433332608 | SCN5A | c.2484C>G (p.Leu828=) c.2355C>G (p.Leu785=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38585994G= | CA1358577525 | SCN5A | c.2484C= (p.Leu828=) c.2355C= (p.Leu785=) | |
| 3 | g.38585994G>T | CA433332607 | SCN5A | c.2484C>A (p.Leu828=) c.2355C>A (p.Leu785=) | gnomAD v4 |
| 3 | g.38585995A>C | CA352142596 | SCN5A | c.2483T>G (p.Leu828Arg) c.2354T>G (p.Leu785Arg) | |
| 3 | g.38585995A>G | CA352142599 | SCN5A | c.2483T>C (p.Leu828Pro) c.2354T>C (p.Leu785Pro) | |
| 3 | g.38585995A>T | CA352142600 | SCN5A | c.2483T>A (p.Leu828His) c.2354T>A (p.Leu785His) | |
| 3 | g.38585996G>A | CA016198 | SCN5A | c.2482C>T (p.Leu828Phe) c.2353C>T (p.Leu785Phe) | ClinVar dbSNP |
| 3 | g.38585996G>C | CA352142604 | SCN5A | c.2482C>G (p.Leu828Val) c.2353C>G (p.Leu785Val) | ClinVar dbSNP |
| 3 | g.38585996G= | CA1358577526 | SCN5A | c.2482C= (p.Leu828=) c.2353C= (p.Leu785=) | |
| 3 | g.38585996G>T | CA352142606 | SCN5A | c.2482C>A (p.Leu828Ile) c.2353C>A (p.Leu785Ile) | |
| 3 | g.38585997T>A | CA433332614 | SCN5A | c.2481A>T (p.Thr827=) c.2352A>T (p.Thr784=) | |
| 3 | g.38585997T>C | CA433332616 | SCN5A | c.2481A>G (p.Thr827=) c.2352A>G (p.Thr784=) | |
| 3 | g.38585997T>G | CA433332617 | SCN5A | c.2481A>C (p.Thr827=) c.2352A>C (p.Thr784=) | ClinVar |
| 3 | g.38585998G>A | CA352142613 | SCN5A | c.2480C>T (p.Thr827Ile) c.2351C>T (p.Thr784Ile) | |
| 3 | g.38585998G>C | CA352142611 | SCN5A | c.2480C>G (p.Thr827Arg) c.2351C>G (p.Thr784Arg) | |
| 3 | g.38585998G>T | CA352142609 | SCN5A | c.2480C>A (p.Thr827Lys) c.2351C>A (p.Thr784Lys) | |
| 3 | g.38585999T>A | CA352142615 | SCN5A | c.2479A>T (p.Thr827Ser) c.2350A>T (p.Thr784Ser) | |
| 3 | g.38585999T>C | CA352142616 | SCN5A | c.2479A>G (p.Thr827Ala) c.2350A>G (p.Thr784Ala) | |
| 3 | g.38585999T>G | CA352142619 | SCN5A | c.2479A>C (p.Thr827Pro) c.2350A>C (p.Thr784Pro) | |
| 3 | g.38586000G>A | CA433332618 | SCN5A | c.2478C>T (p.Asn826=) c.2349C>T (p.Asn783=) | |
| 3 | g.38586000G>C | CA352142621 | SCN5A | c.2478C>G (p.Asn826Lys) c.2349C>G (p.Asn783Lys) | |
| 3 | g.38586000G>T | CA352142622 | SCN5A | c.2478C>A (p.Asn826Lys) c.2349C>A (p.Asn783Lys) | gnomAD v4 |
| 3 | g.38586001T>A | CA352142625 | SCN5A | c.2477A>T (p.Asn826Ile) c.2348A>T (p.Asn783Ile) | |
| 3 | g.38586001T>C | CA352142626 | SCN5A | c.2477A>G (p.Asn826Ser) c.2348A>G (p.Asn783Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38586001T>G | CA352142628 | SCN5A | c.2477A>C (p.Asn826Thr) c.2348A>C (p.Asn783Thr) | |
| 3 | g.38586001T= | CA1358577527 | SCN5A | c.2477A= (p.Asn826=) c.2348A= (p.Asn783=) | |
| 3 | g.38586002T>A | CA352142630 | SCN5A | c.2476A>T (p.Asn826Tyr) c.2347A>T (p.Asn783Tyr) | |
| 3 | g.38586002T>C | CA352142632 | SCN5A | c.2476A>G (p.Asn826Asp) c.2347A>G (p.Asn783Asp) | dbSNP gnomAD v2 |
| 3 | g.38586002T>G | CA352142634 | SCN5A | c.2476A>C (p.Asn826His) c.2347A>C (p.Asn783His) | |
| 3 | g.38586002T= | CA1358577528 | SCN5A | c.2476A= (p.Asn826=) c.2347A= (p.Asn783=) | |
| 3 | g.38586003C>A | CA433332623 | SCN5A | c.2475G>T (p.Leu825=) c.2346G>T (p.Leu782=) | |
| 3 | g.38586003C>G | CA433332624 | SCN5A | c.2475G>C (p.Leu825=) c.2346G>C (p.Leu782=) | |
| 3 | g.38586003C>T | CA433332626 | SCN5A | c.2475G>A (p.Leu825=) c.2346G>A (p.Leu782=) | ClinVar dbSNP |
| 3 | g.38586004A= | CA1358577529 | SCN5A | c.2474T= (p.Leu825=) c.2345T= (p.Leu782=) | |
| 3 | g.38586004A>C | CA352142636 | SCN5A | c.2474T>G (p.Leu825Arg) c.2345T>G (p.Leu782Arg) | |
| 3 | g.38586004A>G | CA352142638 | SCN5A | c.2474T>C (p.Leu825Pro) c.2345T>C (p.Leu782Pro) | ClinVar dbSNP |
| 3 | g.38586004A>T | CA352142640 | SCN5A | c.2474T>A (p.Leu825Gln) c.2345T>A (p.Leu782Gln) | |
| 3 | g.38586005G>A | CA433332627 | SCN5A | c.2473C>T (p.Leu825=) c.2344C>T (p.Leu782=) | |
| 3 | g.38586005G>C | CA352142642 | SCN5A | c.2473C>G (p.Leu825Val) c.2344C>G (p.Leu782Val) | |
| 3 | g.38586005G>T | CA352142644 | SCN5A | c.2473C>A (p.Leu825Met) c.2344C>A (p.Leu782Met) | |
| 3 | g.38586006G>A | CA433332628 | SCN5A | c.2472C>T (p.Thr824=) c.2343C>T (p.Thr781=) | |
| 3 | g.38586006G>C | CA433332629 | SCN5A | c.2472C>G (p.Thr824=) c.2343C>G (p.Thr781=) | |
| 3 | g.38586006G>T | CA433332630 | SCN5A | c.2472C>A (p.Thr824=) c.2343C>A (p.Thr781=) | |
| 3 | g.38586007G>A | CA352142646 | SCN5A | c.2471C>T (p.Thr824Ile) c.2342C>T (p.Thr781Ile) | ClinVar dbSNP |
| 3 | g.38586007G>C | CA352142648 | SCN5A | c.2471C>G (p.Thr824Ser) c.2342C>G (p.Thr781Ser) | |
| 3 | g.38586007G= | CA1358577530 | SCN5A | c.2471C= (p.Thr824=) c.2342C= (p.Thr781=) | |
| 3 | g.38586007G>T | CA352142649 | SCN5A | c.2471C>A (p.Thr824Asn) c.2342C>A (p.Thr781Asn) | |
| 3 | g.38586008T>A | CA352142653 | SCN5A | c.2470A>T (p.Thr824Ser) c.2341A>T (p.Thr781Ser) | |
| 3 | g.38586008T>C | CA352142654 | SCN5A | c.2470A>G (p.Thr824Ala) c.2341A>G (p.Thr781Ala) | |
| 3 | g.38586008T>G | CA352142656 | SCN5A | c.2470A>C (p.Thr824Pro) c.2341A>C (p.Thr781Pro) | |
| 3 | g.38586009G>A | CA433332636 | SCN5A | c.2469C>T (p.Pro823=) c.2340C>T (p.Pro780=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38586009G>C | CA433332638 | SCN5A | c.2469C>G (p.Pro823=) c.2340C>G (p.Pro780=) | |
| 3 | g.38586009G= | CA1358577531 | SCN5A | c.2469C= (p.Pro823=) c.2340C= (p.Pro780=) | |
| 3 | g.38586009G>T | CA433332635 | SCN5A | c.2469C>A (p.Pro823=) c.2340C>A (p.Pro780=) | |
| 3 | g.38586010G>A | CA352142659 | SCN5A | c.2468C>T (p.Pro823Leu) c.2339C>T (p.Pro780Leu) | |
| 3 | g.38586010G>C | CA352142661 | SCN5A | c.2468C>G (p.Pro823Arg) c.2339C>G (p.Pro780Arg) | |
| 3 | g.38586010G>T | CA352142663 | SCN5A | c.2468C>A (p.Pro823His) c.2339C>A (p.Pro780His) | |
| 3 | g.38586011G>A | CA352142665 | SCN5A | c.2467C>T (p.Pro823Ser) c.2338C>T (p.Pro780Ser) | ClinVar |
| 3 | g.38586011G>C | CA352142667 | SCN5A | c.2467C>G (p.Pro823Ala) c.2338C>G (p.Pro780Ala) | |
| 3 | g.38586011G= | CA1358577532 | SCN5A | c.2467C= (p.Pro823=) c.2338C= (p.Pro780=) | |
| 3 | g.38586011G>T | CA352142669 | SCN5A | c.2467C>A (p.Pro823Thr) c.2338C>A (p.Pro780Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38586012C>A | CA352142675 | SCN5A | c.2466G>T (p.Trp822Cys) c.2337G>T (p.Trp779Cys) | gnomAD v4 |
| 3 | g.38586012C= | CA1358577533 | SCN5A | c.2466G= (p.Trp822=) c.2337G= (p.Trp779=) | |
| 3 | g.38586012C>G | CA352142672 | SCN5A | c.2466G>C (p.Trp822Cys) c.2337G>C (p.Trp779Cys) | |
| 3 | g.38586012C>T | CA352142670 | SCN5A | c.2466G>A (p.Trp822Ter) c.2337G>A (p.Trp779Ter) | ClinVar dbSNP |
| 3 | g.38586013C>A | CA352142677 | SCN5A | c.2465G>T (p.Trp822Leu) c.2336G>T (p.Trp779Leu) | |
| 3 | g.38586013C>G | CA352142681 | SCN5A | c.2465G>C (p.Trp822Ser) c.2336G>C (p.Trp779Ser) | |
| 3 | g.38586013C>T | CA352142679 | SCN5A | c.2465G>A (p.Trp822Ter) c.2336G>A (p.Trp779Ter) | |
| 3 | g.38586014A>C | CA352142683 | SCN5A | c.2464T>G (p.Trp822Gly) c.2335T>G (p.Trp779Gly) | |
| 3 | g.38586014A>G | CA352142687 | SCN5A | c.2464T>C (p.Trp822Arg) c.2335T>C (p.Trp779Arg) | |
| 3 | g.38586014A>T | CA352142685 | SCN5A | c.2464T>A (p.Trp822Arg) c.2335T>A (p.Trp779Arg) | |
| 3 | g.38586015T>A | CA433332646 | SCN5A | c.2463A>T (p.Ser821=) c.2334A>T (p.Ser778=) | |
| 3 | g.38586015T>C | CA433332647 | SCN5A | c.2463A>G (p.Ser821=) c.2334A>G (p.Ser778=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38586015T>G | CA433332648 | SCN5A | c.2463A>C (p.Ser821=) c.2334A>C (p.Ser778=) | ClinVar |
| 3 | g.38586015T= | CA1358577534 | SCN5A | c.2463A= (p.Ser821=) c.2334A= (p.Ser778=) | |
| 3 | g.38586016G>A | CA352142689 | SCN5A | c.2462C>T (p.Ser821Leu) c.2333C>T (p.Ser778Leu) | gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38586016G>C | CA352142691 | SCN5A | c.2462C>G (p.Ser821Ter) c.2333C>G (p.Ser778Ter) | |
| 3 | g.38586016G>T | CA352142692 | SCN5A | c.2462C>A (p.Ser821Ter) c.2333C>A (p.Ser778Ter) | |
| 3 | g.38586017A>C | CA352142694 | SCN5A | c.2461T>G (p.Ser821Ala) c.2332T>G (p.Ser778Ala) | |
| 3 | g.38586017A>G | CA352142696 | SCN5A | c.2461T>C (p.Ser821Pro) c.2332T>C (p.Ser778Pro) | |
| 3 | g.38586017A>T | CA352142698 | SCN5A | c.2461T>A (p.Ser821Thr) c.2332T>A (p.Ser778Thr) | |
| 3 | g.38586018T>A | CA352142699 | SCN5A | c.2460A>T (p.Lys820Asn) c.2331A>T (p.Lys777Asn) | |
| 3 | g.38586018T>C | CA433332653 | SCN5A | c.2460A>G (p.Lys820=) c.2331A>G (p.Lys777=) | gnomAD v4 |
| 3 | g.38586018T>G | CA352142701 | SCN5A | c.2460A>C (p.Lys820Asn) c.2331A>C (p.Lys777Asn) | |
| 3 | g.38586019T>A | CA352142703 | SCN5A | c.2459A>T (p.Lys820Ile) c.2330A>T (p.Lys777Ile) | |
| 3 | g.38586019T>C | CA352142705 | SCN5A | c.2459A>G (p.Lys820Arg) c.2330A>G (p.Lys777Arg) | |
| 3 | g.38586019T>G | CA352142707 | SCN5A | c.2459A>C (p.Lys820Thr) c.2330A>C (p.Lys777Thr) | |
| 3 | g.38586020T>A | CA352142713 | SCN5A | c.2458A>T (p.Lys820Ter) c.2329A>T (p.Lys777Ter) | dbSNP |
| 3 | g.38586020T>C | CA352142709 | SCN5A | c.2458A>G (p.Lys820Glu) c.2329A>G (p.Lys777Glu) | |
| 3 | g.38586020T>G | CA352142711 | SCN5A | c.2458A>C (p.Lys820Gln) c.2329A>C (p.Lys777Gln) | |
| 3 | g.38586020T= | CA1358577535 | SCN5A | c.2458A= (p.Lys820=) c.2329A= (p.Lys777=) | |
| 3 | g.38586021G>A | CA72928766 | SCN5A | c.2457C>T (p.Ala819=) c.2328C>T (p.Ala776=) | ClinVar dbSNP |
| 3 | g.38586021G>C | CA433332658 | SCN5A | c.2457C>G (p.Ala819=) c.2328C>G (p.Ala776=) | |
| 3 | g.38586021G= | CA1358577536 | SCN5A | c.2457C= (p.Ala819=) c.2328C= (p.Ala776=) | |
| 3 | g.38586021G>T | CA433332657 | SCN5A | c.2457C>A (p.Ala819=) c.2328C>A (p.Ala776=) | |
| 3 | g.38586022G>A | CA352142716 | SCN5A | c.2456C>T (p.Ala819Val) c.2327C>T (p.Ala776Val) | |
| 3 | g.38586022G>C | CA352142717 | SCN5A | c.2456C>G (p.Ala819Gly) c.2327C>G (p.Ala776Gly) | |
| 3 | g.38586022G>T | CA352142719 | SCN5A | c.2456C>A (p.Ala819Asp) c.2327C>A (p.Ala776Asp) | |
| 3 | g.38586023C>A | CA352142722 | SCN5A | c.2455G>T (p.Ala819Ser) c.2326G>T (p.Ala776Ser) | |
| 3 | g.38586023C= | CA1358577537 | SCN5A | c.2455G= (p.Ala819=) c.2326G= (p.Ala776=) | |
| 3 | g.38586023C>G | CA352142723 | SCN5A | c.2455G>C (p.Ala819Pro) c.2326G>C (p.Ala776Pro) | ClinVar dbSNP |
| 3 | g.38586023C>T | CA72928769 | SCN5A | c.2455G>A (p.Ala819Thr) c.2326G>A (p.Ala776Thr) | dbSNP |
| 3 | g.38586024C>A | CA433332664 | SCN5A | c.2454G>T (p.Leu818=) c.2325G>T (p.Leu775=) | |
| 3 | g.38586024C>G | CA433332665 | SCN5A | c.2454G>C (p.Leu818=) c.2325G>C (p.Leu775=) | |
| 3 | g.38586024C>T | CA433332666 | SCN5A | c.2454G>A (p.Leu818=) c.2325G>A (p.Leu775=) | |
| 3 | g.38586025A>C | CA352142726 | SCN5A | c.2453T>G (p.Leu818Arg) c.2324T>G (p.Leu775Arg) | |
| 3 | g.38586025A>G | CA352142728 | SCN5A | c.2453T>C (p.Leu818Pro) c.2324T>C (p.Leu775Pro) | |
| 3 | g.38586025A>T | CA352142730 | SCN5A | c.2453T>A (p.Leu818Gln) c.2324T>A (p.Leu775Gln) | |
| 3 | g.38586026G>A | CA433332670 | SCN5A | c.2452C>T (p.Leu818=) c.2323C>T (p.Leu775=) | |
| 3 | g.38586026G>C | CA352142732 | SCN5A | c.2452C>G (p.Leu818Val) c.2323C>G (p.Leu775Val) | |
| 3 | g.38586026G>T | CA352142734 | SCN5A | c.2452C>A (p.Leu818Met) c.2323C>A (p.Leu775Met) | |
| 3 | g.38586027C>A | CA352142738 | SCN5A | c.2451G>T (p.Lys817Asn) c.2322G>T (p.Lys774Asn) | |
| 3 | g.38586027C>G | CA352142736 | SCN5A | c.2451G>C (p.Lys817Asn) c.2322G>C (p.Lys774Asn) | |
| 3 | g.38586027C>T | CA433332671 | SCN5A | c.2451G>A (p.Lys817=) c.2322G>A (p.Lys774=) | |
| 3 | g.38586028T>A | CA352142739 | SCN5A | c.2450A>T (p.Lys817Met) c.2321A>T (p.Lys774Met) | |
| 3 | g.38586028T>C | CA352142740 | SCN5A | c.2450A>G (p.Lys817Arg) c.2321A>G (p.Lys774Arg) | dbSNP gnomAD v4 |
| 3 | g.38586028T>G | CA352142741 | SCN5A | c.2450A>C (p.Lys817Thr) c.2321A>C (p.Lys774Thr) | |
| 3 | g.38586028T= | CA1358577538 | SCN5A | c.2450A= (p.Lys817=) c.2321A= (p.Lys774=) | |
| 3 | g.38586029T>A | CA352142743 | SCN5A | c.2449A>T (p.Lys817Ter) c.2320A>T (p.Lys774Ter) | dbSNP |
| 3 | g.38586029T>C | CA352142745 | SCN5A | c.2449A>G (p.Lys817Glu) c.2320A>G (p.Lys774Glu) | |
| 3 | g.38586029T>G | CA352142747 | SCN5A | c.2449A>C (p.Lys817Gln) c.2320A>C (p.Lys774Gln) | |
| 3 | g.38586029T= | CA1358577539 | SCN5A | c.2449A= (p.Lys817=) c.2320A= (p.Lys774=) | |
| 3 | g.38586030G>A | CA433332673 | SCN5A | c.2448C>T (p.Phe816=) c.2319C>T (p.Phe773=) | |
| 3 | g.38586030G>C | CA352142749 | SCN5A | c.2448C>G (p.Phe816Leu) c.2319C>G (p.Phe773Leu) | |
| 3 | g.38586030G= | CA1358577540 | SCN5A | c.2448C= (p.Phe816=) c.2319C= (p.Phe773=) | |
| 3 | g.38586030G>T | CA060497 | SCN5A | c.2448C>A (p.Phe816Leu) c.2319C>A (p.Phe773Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38586031A= | CA1358577541 | SCN5A | c.2447T= (p.Phe816=) c.2318T= (p.Phe773=) | |
| 3 | g.38586031A>C | CA352142751 | SCN5A | c.2447T>G (p.Phe816Cys) c.2318T>G (p.Phe773Cys) | |
| 3 | g.38586031A>G | CA352142753 | SCN5A | c.2447T>C (p.Phe816Ser) c.2318T>C (p.Phe773Ser) | |
| 3 | g.38586031A>T | CA016190 | SCN5A | c.2447T>A (p.Phe816Tyr) c.2318T>A (p.Phe773Tyr) | ClinVar dbSNP |
| 3 | g.38586032A>C | CA352142755 | SCN5A | c.2446T>G (p.Phe816Val) c.2317T>G (p.Phe773Val) | |
| 3 | g.38586032A>G | CA352142757 | SCN5A | c.2446T>C (p.Phe816Leu) c.2317T>C (p.Phe773Leu) | |
| 3 | g.38586032A>T | CA352142759 | SCN5A | c.2446T>A (p.Phe816Ile) c.2317T>A (p.Phe773Ile) | |
| 3 | g.38586033G>A | CA433332674 | SCN5A | c.2445C>T (p.Val815=) c.2316C>T (p.Val772=) | |
| 3 | g.38586033G>C | CA433332675 | SCN5A | c.2445C>G (p.Val815=) c.2316C>G (p.Val772=) | |
| 3 | g.38586033G>T | CA433332676 | SCN5A | c.2445C>A (p.Val815=) c.2316C>A (p.Val772=) | |
| 3 | g.38586034A>C | CA352142762 | SCN5A | c.2444T>G (p.Val815Gly) c.2315T>G (p.Val772Gly) | |
| 3 | g.38586034A>G | CA352142766 | SCN5A | c.2444T>C (p.Val815Ala) c.2315T>C (p.Val772Ala) | |
| 3 | g.38586034A>T | CA352142764 | SCN5A | c.2444T>A (p.Val815Asp) c.2315T>A (p.Val772Asp) | |
| 3 | g.38586035C>A | CA352142769 | SCN5A | c.2443G>T (p.Val815Phe) c.2314G>T (p.Val772Phe) | |
| 3 | g.38586035C>G | CA352142770 | SCN5A | c.2443G>C (p.Val815Leu) c.2314G>C (p.Val772Leu) | |
| 3 | g.38586035C>T | CA352142772 | SCN5A | c.2443G>A (p.Val815Ile) c.2314G>A (p.Val772Ile) | ClinVar gnomAD v4 |
| 3 | g.38586036C>A | CA433332679 | SCN5A | c.2442G>T (p.Arg814=) c.2313G>T (p.Arg771=) | gnomAD v4 |
| 3 | g.38586036C>G | CA433332680 | SCN5A | c.2442G>C (p.Arg814=) c.2313G>C (p.Arg771=) | |
| 3 | g.38586036C>T | CA433332681 | SCN5A | c.2442G>A (p.Arg814=) c.2313G>A (p.Arg771=) | |
| 3 | g.38586037C>A | CA352142774 | SCN5A | c.2441G>T (p.Arg814Leu) c.2312G>T (p.Arg771Leu) | gnomAD v4 |
| 3 | g.38586037C= | CA1358577542 | SCN5A | c.2441G= (p.Arg814=) c.2312G= (p.Arg771=) | |
| 3 | g.38586037C>G | CA352142775 | SCN5A | c.2441G>C (p.Arg814Pro) c.2312G>C (p.Arg771Pro) | |
| 3 | g.38586037C>T | CA016182 | SCN5A | c.2441G>A (p.Arg814Gln) c.2312G>A (p.Arg771Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |