UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38585760G>A | CA060748 | SCN5A | c.2718C>T (p.Cys906=) c.2589C>T (p.Cys863=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38585760G>C | CA352141545 | SCN5A | c.2718C>G (p.Cys906Trp) c.2589C>G (p.Cys863Trp) | |
| 3 | g.38585760G= | CA1358577411 | SCN5A | c.2718C= (p.Cys906=) c.2589C= (p.Cys863=) | |
| 3 | g.38585760G>T | CA352141548 | SCN5A | c.2718C>A (p.Cys906Ter) c.2589C>A (p.Cys863Ter) | dbSNP |
| 3 | g.38585761C>A | CA352141551 | SCN5A | c.2717G>T (p.Cys906Phe) c.2588G>T (p.Cys863Phe) | |
| 3 | g.38585761C>G | CA352141553 | SCN5A | c.2717G>C (p.Cys906Ser) c.2588G>C (p.Cys863Ser) | |
| 3 | g.38585761C>T | CA352141555 | SCN5A | c.2717G>A (p.Cys906Tyr) c.2588G>A (p.Cys863Tyr) | |
| 3 | g.38585762A= | CA1358577412 | SCN5A | c.2716T= (p.Cys906=) c.2587T= (p.Cys863=) | |
| 3 | g.38585762A>C | CA352141557 | SCN5A | c.2716T>G (p.Cys906Gly) c.2587T>G (p.Cys863Gly) | COSMIC COSMIC COSMIC |
| 3 | g.38585762A>G | CA016438 | SCN5A | c.2716T>C (p.Cys906Arg) c.2587T>C (p.Cys863Arg) | dbSNP |
| 3 | g.38585762A>T | CA352141560 | SCN5A | c.2716T>A (p.Cys906Ser) c.2587T>A (p.Cys863Ser) | |
| 3 | g.38585763G>A | CA433332678 | SCN5A | c.2715C>T (p.Asp905=) c.2586C>T (p.Asp862=) | gnomAD v4 |
| 3 | g.38585763G>C | CA352141563 | SCN5A | c.2715C>G (p.Asp905Glu) c.2586C>G (p.Asp862Glu) | |
| 3 | g.38585763G>T | CA352141564 | SCN5A | c.2715C>A (p.Asp905Glu) c.2586C>A (p.Asp862Glu) | |
| 3 | g.38585764T>A | CA352141571 | SCN5A | c.2714A>T (p.Asp905Val) c.2585A>T (p.Asp862Val) | |
| 3 | g.38585764T>C | CA352141569 | SCN5A | c.2714A>G (p.Asp905Gly) c.2585A>G (p.Asp862Gly) | ClinVar dbSNP |
| 3 | g.38585764T>G | CA352141567 | SCN5A | c.2714A>C (p.Asp905Ala) c.2585A>C (p.Asp862Ala) | |
| 3 | g.38585764T= | CA1358577413 | SCN5A | c.2714A= (p.Asp905=) c.2585A= (p.Asp862=) | |
| 3 | g.38585765C>A | CA352141572 | SCN5A | c.2713G>T (p.Asp905Tyr) c.2584G>T (p.Asp862Tyr) | |
| 3 | g.38585765C= | CA1358577414 | SCN5A | c.2713G= (p.Asp905=) c.2584G= (p.Asp862=) | |
| 3 | g.38585765C>G | CA352141574 | SCN5A | c.2713G>C (p.Asp905His) c.2584G>C (p.Asp862His) | |
| 3 | g.38585765C>T | CA352141576 | SCN5A | c.2713G>A (p.Asp905Asn) c.2584G>A (p.Asp862Asn) | ClinVar dbSNP COSMIC |
| 3 | g.38585765_38585766insAT | CA1358577415 | SCN5A | c.2712_2713insAT (p.Asp905MetfsTer28) c.2583_2584insAT (p.Asp862MetfsTer28) | dbSNP |
| 3 | g.38585766C>A | CA352141578 | SCN5A | c.2712G>T (p.Trp904Cys) c.2583G>T (p.Trp861Cys) | |
| 3 | g.38585766C= | CA1358577416 | SCN5A | c.2712G= (p.Trp904=) c.2583G= (p.Trp861=) | |
| 3 | g.38585766C>G | CA352141580 | SCN5A | c.2712G>C (p.Trp904Cys) c.2583G>C (p.Trp861Cys) | gnomAD v4 |
| 3 | g.38585766C>T | CA352141581 | SCN5A | c.2712G>A (p.Trp904Ter) c.2583G>A (p.Trp861Ter) | ClinVar dbSNP |
| 3 | g.38585767C>A | CA72928502 | SCN5A | c.2711G>T (p.Trp904Leu) c.2582G>T (p.Trp861Leu) | dbSNP |
| 3 | g.38585767C= | CA1358577417 | SCN5A | c.2711G= (p.Trp904=) c.2582G= (p.Trp861=) | |
| 3 | g.38585767C>G | CA352141585 | SCN5A | c.2711G>C (p.Trp904Ser) c.2582G>C (p.Trp861Ser) | |
| 3 | g.38585767C>T | CA352141586 | SCN5A | c.2711G>A (p.Trp904Ter) c.2582G>A (p.Trp861Ter) | dbSNP gnomAD v4 |
| 3 | g.38585768A= | CA1358577418 | SCN5A | c.2710T= (p.Trp904=) c.2581T= (p.Trp861=) | |
| 3 | g.38585768A>C | CA352141588 | SCN5A | c.2710T>G (p.Trp904Gly) c.2581T>G (p.Trp861Gly) | |
| 3 | g.38585768A>G | CA352141590 | SCN5A | c.2710T>C (p.Trp904Arg) c.2581T>C (p.Trp861Arg) | |
| 3 | g.38585768A>T | CA352141591 | SCN5A | c.2710T>A (p.Trp904Arg) c.2581T>A (p.Trp861Arg) | ClinVar dbSNP |
| 3 | g.38585769C>A | CA352141597 | SCN5A | c.2709G>T (p.Met903Ile) c.2580G>T (p.Met860Ile) | |
| 3 | g.38585769C>G | CA352141599 | SCN5A | c.2709G>C (p.Met903Ile) c.2580G>C (p.Met860Ile) | |
| 3 | g.38585769C>T | CA352141595 | SCN5A | c.2709G>A (p.Met903Ile) c.2580G>A (p.Met860Ile) | |
| 3 | g.38585770A= | CA1358577420 | SCN5A | c.2708T= (p.Met903=) c.2579T= (p.Met860=) | |
| 3 | g.38585770A>C | CA352141604 | SCN5A | c.2708T>G (p.Met903Arg) c.2579T>G (p.Met860Arg) | |
| 3 | g.38585770A>G | CA352141602 | SCN5A | c.2708T>C (p.Met903Thr) c.2579T>C (p.Met860Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38585770A>T | CA352141603 | SCN5A | c.2708T>A (p.Met903Lys) c.2579T>A (p.Met860Lys) | |
| 3 | g.38585770_38585771delinsAT | CA1358577419 | SCN5A | c.2707_2708delinsAT (p.Met903=) c.2578_2579delinsAT (p.Met860=) | |
| 3 | g.38585771del | CA060739 | SCN5A | c.2707del (p.Met903CysfsTer29) c.2578del (p.Met860CysfsTer29) | dbSNP ExAC gnomAD v2 |
| 3 | g.38585771T>A | CA352141605 | SCN5A | c.2707A>T (p.Met903Leu) c.2578A>T (p.Met860Leu) | |
| 3 | g.38585771T>C | CA352141608 | SCN5A | c.2707A>G (p.Met903Val) c.2578A>G (p.Met860Val) | ClinVar dbSNP |
| 3 | g.38585771T>G | CA352141609 | SCN5A | c.2707A>C (p.Met903Leu) c.2578A>C (p.Met860Leu) | |
| 3 | g.38585771T= | CA1358577421 | SCN5A | c.2707A= (p.Met903=) c.2578A= (p.Met860=) | |
| 3 | g.38585772G>A | CA060735 | SCN5A | c.2706C>T (p.Thr902=) c.2577C>T (p.Thr859=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38585772G>C | CA433332692 | SCN5A | c.2706C>G (p.Thr902=) c.2577C>G (p.Thr859=) | |
| 3 | g.38585772G= | CA1358577422 | SCN5A | c.2706C= (p.Thr902=) c.2577C= (p.Thr859=) | |
| 3 | g.38585772G>T | CA060725 | SCN5A | c.2706C>A (p.Thr902=) c.2577C>A (p.Thr859=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38585773G>A | CA352141617 | SCN5A | c.2705C>T (p.Thr902Ile) c.2576C>T (p.Thr859Ile) | COSMIC COSMIC COSMIC |
| 3 | g.38585773G>C | CA352141619 | SCN5A | c.2705C>G (p.Thr902Ser) c.2576C>G (p.Thr859Ser) | |
| 3 | g.38585773G>T | CA352141621 | SCN5A | c.2705C>A (p.Thr902Asn) c.2576C>A (p.Thr859Asn) | |
| 3 | g.38585773_38585774dup | CA308148 | SCN5A | c.2704_2705dup (p.Met903ProfsTer30) c.2575_2576dup (p.Met860ProfsTer30) | ClinVar dbSNP |
| 3 | g.38585774T>A | CA352141624 | SCN5A | c.2704A>T (p.Thr902Ser) c.2575A>T (p.Thr859Ser) | ClinVar gnomAD v4 |
| 3 | g.38585774T>C | CA72928514 | SCN5A | c.2704A>G (p.Thr902Ala) c.2575A>G (p.Thr859Ala) | dbSNP |
| 3 | g.38585774T>G | CA352141626 | SCN5A | c.2704A>C (p.Thr902Pro) c.2575A>C (p.Thr859Pro) | |
| 3 | g.38585774T= | CA1358577423 | SCN5A | c.2704A= (p.Thr902=) c.2575A= (p.Thr859=) | |
| 3 | g.38585775C>A | CA352141629 | SCN5A | c.2703G>T (p.Glu901Asp) c.2574G>T (p.Glu858Asp) | |
| 3 | g.38585775C= | CA1358577424 | SCN5A | c.2703G= (p.Glu901=) c.2574G= (p.Glu858=) | |
| 3 | g.38585775C>G | CA352141630 | SCN5A | c.2703G>C (p.Glu901Asp) c.2574G>C (p.Glu858Asp) | |
| 3 | g.38585775C>T | CA433332700 | SCN5A | c.2703G>A (p.Glu901=) c.2574G>A (p.Glu858=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38585776T>A | CA352141633 | SCN5A | c.2702A>T (p.Glu901Val) c.2573A>T (p.Glu858Val) | |
| 3 | g.38585776T>C | CA352141635 | SCN5A | c.2702A>G (p.Glu901Gly) c.2573A>G (p.Glu858Gly) | |
| 3 | g.38585776T>G | CA352141637 | SCN5A | c.2702A>C (p.Glu901Ala) c.2573A>C (p.Glu858Ala) | |
| 3 | g.38585777C>A | CA352141638 | SCN5A | c.2701G>T (p.Glu901Ter) c.2572G>T (p.Glu858Ter) | dbSNP |
| 3 | g.38585777C= | CA1358577425 | SCN5A | c.2701G= (p.Glu901=) c.2572G= (p.Glu858=) | |
| 3 | g.38585777C>G | CA352141639 | SCN5A | c.2701G>C (p.Glu901Gln) c.2572G>C (p.Glu858Gln) | ClinVar dbSNP |
| 3 | g.38585777C>T | CA016428 | SCN5A | c.2701G>A (p.Glu901Lys) c.2572G>A (p.Glu858Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38585778G>A | CA060720 | SCN5A | c.2700C>T (p.Ile900=) c.2571C>T (p.Ile857=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38585778G>C | CA352141641 | SCN5A | c.2700C>G (p.Ile900Met) c.2571C>G (p.Ile857Met) | gnomAD v4 |
| 3 | g.38585778G= | CA1358577426 | SCN5A | c.2700C= (p.Ile900=) c.2571C= (p.Ile857=) | |
| 3 | g.38585778G>T | CA433332702 | SCN5A | c.2700C>A (p.Ile900=) c.2571C>A (p.Ile857=) | |
| 3 | g.38585779A>C | CA352141646 | SCN5A | c.2699T>G (p.Ile900Ser) c.2570T>G (p.Ile857Ser) | |
| 3 | g.38585779A>G | CA352141647 | SCN5A | c.2699T>C (p.Ile900Thr) c.2570T>C (p.Ile857Thr) | |
| 3 | g.38585779A>T | CA352141644 | SCN5A | c.2699T>A (p.Ile900Asn) c.2570T>A (p.Ile857Asn) | |
| 3 | g.38585780T>A | CA352141648 | SCN5A | c.2698A>T (p.Ile900Phe) c.2569A>T (p.Ile857Phe) | |
| 3 | g.38585780T>C | CA352141650 | SCN5A | c.2698A>G (p.Ile900Val) c.2569A>G (p.Ile857Val) | |
| 3 | g.38585780T>G | CA352141652 | SCN5A | c.2698A>C (p.Ile900Leu) c.2569A>C (p.Ile857Leu) | |
| 3 | g.38585781C>A | CA352141655 | SCN5A | c.2697G>T (p.Trp899Cys) c.2568G>T (p.Trp856Cys) | |
| 3 | g.38585781C= | CA1358577427 | SCN5A | c.2697G= (p.Trp899=) c.2568G= (p.Trp856=) | |
| 3 | g.38585781C>G | CA352141657 | SCN5A | c.2697G>C (p.Trp899Cys) c.2568G>C (p.Trp856Cys) | |
| 3 | g.38585781C>T | CA352141658 | SCN5A | c.2697G>A (p.Trp899Ter) c.2568G>A (p.Trp856Ter) | dbSNP |
| 3 | g.38585782C>A | CA352141664 | SCN5A | c.2696G>T (p.Trp899Leu) c.2567G>T (p.Trp856Leu) | |
| 3 | g.38585782C>G | CA352141659 | SCN5A | c.2696G>C (p.Trp899Ser) c.2567G>C (p.Trp856Ser) | |
| 3 | g.38585782C>T | CA352141662 | SCN5A | c.2696G>A (p.Trp899Ter) c.2567G>A (p.Trp856Ter) | |
| 3 | g.38585783A>C | CA352141666 | SCN5A | c.2695T>G (p.Trp899Gly) c.2566T>G (p.Trp856Gly) | |
| 3 | g.38585783A>G | CA352141668 | SCN5A | c.2695T>C (p.Trp899Arg) c.2566T>C (p.Trp856Arg) | |
| 3 | g.38585783A>T | CA352141670 | SCN5A | c.2695T>A (p.Trp899Arg) c.2566T>A (p.Trp856Arg) | |
| 3 | g.38585784C>A | CA352141672 | SCN5A | c.2694G>T (p.Glu898Asp) c.2565G>T (p.Glu855Asp) | |
| 3 | g.38585784C= | CA1358577428 | SCN5A | c.2694G= (p.Glu898=) c.2565G= (p.Glu855=) | |
| 3 | g.38585784C>G | CA352141674 | SCN5A | c.2694G>C (p.Glu898Asp) c.2565G>C (p.Glu855Asp) | |
| 3 | g.38585784C>T | CA433332707 | SCN5A | c.2694G>A (p.Glu898=) c.2565G>A (p.Glu855=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38585785T>A | CA352141677 | SCN5A | c.2693A>T (p.Glu898Val) c.2564A>T (p.Glu855Val) | |
| 3 | g.38585785T>C | CA352141680 | SCN5A | c.2693A>G (p.Glu898Gly) c.2564A>G (p.Glu855Gly) | |
| 3 | g.38585785T>G | CA352141679 | SCN5A | c.2693A>C (p.Glu898Ala) c.2564A>C (p.Glu855Ala) | |
| 3 | g.38585786C>A | CA352141682 | SCN5A | c.2692G>T (p.Glu898Ter) c.2563G>T (p.Glu855Ter) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38585786C= | CA1358577429 | SCN5A | c.2692G= (p.Glu898=) c.2563G= (p.Glu855=) | |
| 3 | g.38585786C>G | CA352141684 | SCN5A | c.2692G>C (p.Glu898Gln) c.2563G>C (p.Glu855Gln) | |
| 3 | g.38585786C>T | CA352141686 | SCN5A | c.2692G>A (p.Glu898Lys) c.2563G>A (p.Glu855Lys) | ClinVar |
| 3 | g.38585787T>A | CA433332709 | SCN5A | c.2691A>T (p.Gly897=) c.2562A>T (p.Gly854=) | |
| 3 | g.38585787T>C | CA060707 | SCN5A | c.2691A>G (p.Gly897=) c.2562A>G (p.Gly854=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38585787T>G | CA433332710 | SCN5A | c.2691A>C (p.Gly897=) c.2562A>C (p.Gly854=) | gnomAD v4 |
| 3 | g.38585787T= | CA1358577430 | SCN5A | c.2691A= (p.Gly897=) c.2562A= (p.Gly854=) | |
| 3 | g.38585788C>A | CA352141689 | SCN5A | c.2690G>T (p.Gly897Val) c.2561G>T (p.Gly854Val) | |
| 3 | g.38585788C= | CA1358577431 | SCN5A | c.2690G= (p.Gly897=) c.2561G= (p.Gly854=) | |
| 3 | g.38585788C>G | CA352141691 | SCN5A | c.2690G>C (p.Gly897Ala) c.2561G>C (p.Gly854Ala) | |
| 3 | g.38585788C>T | CA352141693 | SCN5A | c.2690G>A (p.Gly897Glu) c.2561G>A (p.Gly854Glu) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38585789C>A | CA352141695 | SCN5A | c.2689G>T (p.Gly897Ter) c.2560G>T (p.Gly854Ter) | dbSNP |
| 3 | g.38585789C= | CA1358577432 | SCN5A | c.2689G= (p.Gly897=) c.2560G= (p.Gly854=) | |
| 3 | g.38585789C>G | CA352141698 | SCN5A | c.2689G>C (p.Gly897Arg) c.2560G>C (p.Gly854Arg) | |
| 3 | g.38585789C>T | CA352141700 | SCN5A | c.2689G>A (p.Gly897Arg) c.2560G>A (p.Gly854Arg) | |
| 3 | g.38585790A= | CA1358577433 | SCN5A | c.2688T= (p.Cys896=) c.2559T= (p.Cys853=) | |
| 3 | g.38585790A>C | CA352141702 | SCN5A | c.2688T>G (p.Cys896Trp) c.2559T>G (p.Cys853Trp) | |
| 3 | g.38585790A>G | CA433332712 | SCN5A | c.2688T>C (p.Cys896=) c.2559T>C (p.Cys853=) | |
| 3 | g.38585790A>T | CA352141704 | SCN5A | c.2688T>A (p.Cys896Ter) c.2559T>A (p.Cys853Ter) | dbSNP |
| 3 | g.38585791C>A | CA352141711 | SCN5A | c.2687G>T (p.Cys896Phe) c.2558G>T (p.Cys853Phe) | |
| 3 | g.38585791C>G | CA352141708 | SCN5A | c.2687G>C (p.Cys896Ser) c.2558G>C (p.Cys853Ser) | |
| 3 | g.38585791C>T | CA352141707 | SCN5A | c.2687G>A (p.Cys896Tyr) c.2558G>A (p.Cys853Tyr) | |
| 3 | g.38585792A= | CA1358577434 | SCN5A | c.2686T= (p.Cys896=) c.2557T= (p.Cys853=) | |
| 3 | g.38585792A>C | CA352141713 | SCN5A | c.2686T>G (p.Cys896Gly) c.2557T>G (p.Cys853Gly) | |
| 3 | g.38585792A>G | CA352141718 | SCN5A | c.2686T>C (p.Cys896Arg) c.2557T>C (p.Cys853Arg) | |
| 3 | g.38585792A>T | CA016406 | SCN5A | c.2686T>A (p.Cys896Ser) c.2557T>A (p.Cys853Ser) | ClinVar dbSNP |
| 3 | g.38585793G>A | CA433332717 | SCN5A | c.2685C>T (p.Leu895=) c.2556C>T (p.Leu852=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38585793G>C | CA433332716 | SCN5A | c.2685C>G (p.Leu895=) c.2556C>G (p.Leu852=) | |
| 3 | g.38585793G= | CA1358577435 | SCN5A | c.2685C= (p.Leu895=) c.2556C= (p.Leu852=) | |
| 3 | g.38585793G>T | CA433332715 | SCN5A | c.2685C>A (p.Leu895=) c.2556C>A (p.Leu852=) | |
| 3 | g.38585794A>C | CA352141721 | SCN5A | c.2684T>G (p.Leu895Arg) c.2555T>G (p.Leu852Arg) | |
| 3 | g.38585794A>G | CA352141723 | SCN5A | c.2684T>C (p.Leu895Pro) c.2555T>C (p.Leu852Pro) | |
| 3 | g.38585794A>T | CA352141725 | SCN5A | c.2684T>A (p.Leu895His) c.2555T>A (p.Leu852His) | |
| 3 | g.38585795G>A | CA060701 | SCN5A | c.2683C>T (p.Leu895Phe) c.2554C>T (p.Leu852Phe) | dbSNP ExAC gnomAD v2 |
| 3 | g.38585795G>C | CA352141729 | SCN5A | c.2683C>G (p.Leu895Val) c.2554C>G (p.Leu852Val) | |
| 3 | g.38585795G= | CA1358577436 | SCN5A | c.2683C= (p.Leu895=) c.2554C= (p.Leu852=) | |
| 3 | g.38585795G>T | CA352141727 | SCN5A | c.2683C>A (p.Leu895Ile) c.2554C>A (p.Leu852Ile) | |
| 3 | g.38585796G>A | CA433332719 | SCN5A | c.2682C>T (p.Ile894=) c.2553C>T (p.Ile851=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38585796G>C | CA060693 | SCN5A | c.2682C>G (p.Ile894Met) c.2553C>G (p.Ile851Met) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.38585796G= | CA1358577437 | SCN5A | c.2682C= (p.Ile894=) c.2553C= (p.Ile851=) | |
| 3 | g.38585796G>T | CA433332720 | SCN5A | c.2682C>A (p.Ile894=) c.2553C>A (p.Ile851=) | |
| 3 | g.38585797A>C | CA352141734 | SCN5A | c.2681T>G (p.Ile894Ser) c.2552T>G (p.Ile851Ser) | |
| 3 | g.38585797A>G | CA352141736 | SCN5A | c.2681T>C (p.Ile894Thr) c.2552T>C (p.Ile851Thr) | |
| 3 | g.38585797A>T | CA352141737 | SCN5A | c.2681T>A (p.Ile894Asn) c.2552T>A (p.Ile851Asn) | ClinVar |
| 3 | g.38585798T>A | CA352141740 | SCN5A | c.2680A>T (p.Ile894Phe) c.2551A>T (p.Ile851Phe) | |
| 3 | g.38585798T>C | CA352141742 | SCN5A | c.2680A>G (p.Ile894Val) c.2551A>G (p.Ile851Val) | gnomAD v4 |
| 3 | g.38585798T>G | CA352141743 | SCN5A | c.2680A>C (p.Ile894Leu) c.2551A>C (p.Ile851Leu) | |
| 3 | g.38585799G>A | CA433332721 | SCN5A | c.2679C>T (p.Arg893=) c.2550C>T (p.Arg850=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38585799G>C | CA433332724 | SCN5A | c.2679C>G (p.Arg893=) c.2550C>G (p.Arg850=) | |
| 3 | g.38585799G= | CA1358577438 | SCN5A | c.2679C= (p.Arg893=) c.2550C= (p.Arg850=) | |
| 3 | g.38585799G>T | CA433332722 | SCN5A | c.2679C>A (p.Arg893=) c.2550C>A (p.Arg850=) | |
| 3 | g.38585800C>A | CA016400 | SCN5A | c.2678G>T (p.Arg893Leu) c.2549G>T (p.Arg850Leu) | ClinVar dbSNP |
| 3 | g.38585800C= | CA1358577439 | SCN5A | c.2678G= (p.Arg893=) c.2549G= (p.Arg850=) | |
| 3 | g.38585800C>G | CA352141747 | SCN5A | c.2678G>C (p.Arg893Pro) c.2549G>C (p.Arg850Pro) | ClinVar gnomAD v4 |
| 3 | g.38585800C>T | CA016396 | SCN5A | c.2678G>A (p.Arg893His) c.2549G>A (p.Arg850His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38585801G>A | CA016390 | SCN5A | c.2677C>T (p.Arg893Cys) c.2548C>T (p.Arg850Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38585801G>C | CA352141750 | SCN5A | c.2677C>G (p.Arg893Gly) c.2548C>G (p.Arg850Gly) | |
| 3 | g.38585801G= | CA1358577440 | SCN5A | c.2677C= (p.Arg893=) c.2548C= (p.Arg850=) | |
| 3 | g.38585801G>T | CA352141752 | SCN5A | c.2677C>A (p.Arg893Ser) c.2548C>A (p.Arg850Ser) | ClinVar |
| 3 | g.38585802G>A | CA433332727 | SCN5A | c.2676C>T (p.Phe892=) c.2547C>T (p.Phe849=) | COSMIC COSMIC COSMIC |
| 3 | g.38585802G>C | CA352141754 | SCN5A | c.2676C>G (p.Phe892Leu) c.2547C>G (p.Phe849Leu) | |
| 3 | g.38585802G>T | CA352141756 | SCN5A | c.2676C>A (p.Phe892Leu) c.2547C>A (p.Phe849Leu) | |
| 3 | g.38585803A>C | CA352141759 | SCN5A | c.2675T>G (p.Phe892Cys) c.2546T>G (p.Phe849Cys) | |
| 3 | g.38585803A>G | CA352141760 | SCN5A | c.2675T>C (p.Phe892Ser) c.2546T>C (p.Phe849Ser) | |
| 3 | g.38585803A>T | CA352141762 | SCN5A | c.2675T>A (p.Phe892Tyr) c.2546T>A (p.Phe849Tyr) | |
| 3 | g.38585804A= | CA1358577441 | SCN5A | c.2674T= (p.Phe892=) c.2545T= (p.Phe849=) | |
| 3 | g.38585804A>C | CA352141764 | SCN5A | c.2674T>G (p.Phe892Val) c.2545T>G (p.Phe849Val) | |
| 3 | g.38585804A>G | CA352141766 | SCN5A | c.2674T>C (p.Phe892Leu) c.2545T>C (p.Phe849Leu) | ClinVar dbSNP |
| 3 | g.38585804A>T | CA016384 | SCN5A | c.2674T>A (p.Phe892Ile) c.2545T>A (p.Phe849Ile) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38585805G>A | CA72928541 | SCN5A | c.2673C>T (p.Ile891=) c.2544C>T (p.Ile848=) | dbSNP |
| 3 | g.38585805G>C | CA352141769 | SCN5A | c.2673C>G (p.Ile891Met) c.2544C>G (p.Ile848Met) | |
| 3 | g.38585805G= | CA1358577442 | SCN5A | c.2673C= (p.Ile891=) c.2544C= (p.Ile848=) | |
| 3 | g.38585805G>T | CA433332729 | SCN5A | c.2673C>A (p.Ile891=) c.2544C>A (p.Ile848=) | ClinVar |
| 3 | g.38585810_38585812del | CA645530263 | SCN5A | c.2671_2673del (p.Ile891del) c.2542_2544del (p.Ile848del) | COSMIC COSMIC COSMIC |
| 3 | g.38585806A= | CA1358577443 | SCN5A | c.2672T= (p.Ile891=) c.2543T= (p.Ile848=) | |
| 3 | g.38585806A>C | CA352141772 | SCN5A | c.2672T>G (p.Ile891Ser) c.2543T>G (p.Ile848Ser) | |
| 3 | g.38585806A>G | CA060679 | SCN5A | c.2672T>C (p.Ile891Thr) c.2543T>C (p.Ile848Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38585806A>T | CA060670 | SCN5A | c.2672T>A (p.Ile891Asn) c.2543T>A (p.Ile848Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38585807T>A | CA352141776 | SCN5A | c.2671A>T (p.Ile891Phe) c.2542A>T (p.Ile848Phe) | |
| 3 | g.38585807T>C | CA352141778 | SCN5A | c.2671A>G (p.Ile891Val) c.2542A>G (p.Ile848Val) | ClinVar dbSNP |
| 3 | g.38585807T>G | CA352141780 | SCN5A | c.2671A>C (p.Ile891Leu) c.2542A>C (p.Ile848Leu) | |
| 3 | g.38585807T= | CA1358577444 | SCN5A | c.2671A= (p.Ile891=) c.2542A= (p.Ile848=) | |
| 3 | g.38585808G>A | CA433332732 | SCN5A | c.2670C>T (p.Ile890=) c.2541C>T (p.Ile847=) | dbSNP |
| 3 | g.38585808G>C | CA352141782 | SCN5A | c.2670C>G (p.Ile890Met) c.2541C>G (p.Ile847Met) | |
| 3 | g.38585808G>T | CA433332733 | SCN5A | c.2670C>A (p.Ile890=) c.2541C>A (p.Ile847=) | |
| 3 | g.38585809A>C | CA352141784 | SCN5A | c.2669T>G (p.Ile890Ser) c.2540T>G (p.Ile847Ser) | |
| 3 | g.38585809A>G | CA352141786 | SCN5A | c.2669T>C (p.Ile890Thr) c.2540T>C (p.Ile847Thr) | |
| 3 | g.38585809A>T | CA352141788 | SCN5A | c.2669T>A (p.Ile890Asn) c.2540T>A (p.Ile847Asn) | |
| 3 | g.38585810T>A | CA352141790 | SCN5A | c.2668A>T (p.Ile890Phe) c.2539A>T (p.Ile847Phe) | ClinVar dbSNP |
| 3 | g.38585810T>C | CA352141794 | SCN5A | c.2668A>G (p.Ile890Val) c.2539A>G (p.Ile847Val) | ClinVar |
| 3 | g.38585810T>G | CA352141792 | SCN5A | c.2668A>C (p.Ile890Leu) c.2539A>C (p.Ile847Leu) | |
| 3 | g.38585811G>A | CA016372 | SCN5A | c.2667C>T (p.Leu889=) c.2538C>T (p.Leu846=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38585811G>C | CA433332737 | SCN5A | c.2667C>G (p.Leu889=) c.2538C>G (p.Leu846=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38585811G= | CA1358577445 | SCN5A | c.2667C= (p.Leu889=) c.2538C= (p.Leu846=) | |
| 3 | g.38585811G>T | CA433332739 | SCN5A | c.2667C>A (p.Leu889=) c.2538C>A (p.Leu846=) | |
| 3 | g.38585812A>C | CA352141796 | SCN5A | c.2666T>G (p.Leu889Arg) c.2537T>G (p.Leu846Arg) | |
| 3 | g.38585812A>G | CA352141798 | SCN5A | c.2666T>C (p.Leu889Pro) c.2537T>C (p.Leu846Pro) | |
| 3 | g.38585812A>T | CA352141800 | SCN5A | c.2666T>A (p.Leu889His) c.2537T>A (p.Leu846His) | |
| 3 | g.38585813G>A | CA352141802 | SCN5A | c.2665C>T (p.Leu889Phe) c.2536C>T (p.Leu846Phe) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38585813G>C | CA352141806 | SCN5A | c.2665C>G (p.Leu889Val) c.2536C>G (p.Leu846Val) | |
| 3 | g.38585813G>T | CA352141804 | SCN5A | c.2665C>A (p.Leu889Ile) c.2536C>A (p.Leu846Ile) | |
| 3 | g.38585813_38585825delinsGGAAGGCATGAAA | CA1358577446 | SCN5A | c.2653_2665delinsTTTCATGCCTTCC (p.Phe885=) c.2524_2536delinsTTTCATGCCTTCC (p.Phe842=) | |
| 3 | g.38585814G>A | CA433332742 | SCN5A | c.2664C>T (p.Phe888=) c.2535C>T (p.Phe845=) | gnomAD v4 |
| 3 | g.38585814G>C | CA352141808 | SCN5A | c.2664C>G (p.Phe888Leu) c.2535C>G (p.Phe845Leu) | |
| 3 | g.38585814G>T | CA352141810 | SCN5A | c.2664C>A (p.Phe888Leu) c.2535C>A (p.Phe845Leu) | |
| 3 | g.38585818_38585829del | CA913188100 | SCN5A | c.2653_2664del (p.Phe885_Phe888del) c.2524_2535del (p.Phe842_Phe845del) | ClinVar dbSNP |
| 3 | g.38585815A>C | CA352141813 | SCN5A | c.2663T>G (p.Phe888Cys) c.2534T>G (p.Phe845Cys) | |
| 3 | g.38585815A>G | CA352141814 | SCN5A | c.2663T>C (p.Phe888Ser) c.2534T>C (p.Phe845Ser) | |
| 3 | g.38585815A>T | CA352141816 | SCN5A | c.2663T>A (p.Phe888Tyr) c.2534T>A (p.Phe845Tyr) | |
| 3 | g.38585816A= | CA1358577447 | SCN5A | c.2662T= (p.Phe888=) c.2533T= (p.Phe845=) | |
| 3 | g.38585816A>C | CA352141818 | SCN5A | c.2662T>G (p.Phe888Val) c.2533T>G (p.Phe845Val) | |
| 3 | g.38585816A>G | CA72928576 | SCN5A | c.2662T>C (p.Phe888Leu) c.2533T>C (p.Phe845Leu) | ClinVar dbSNP |
| 3 | g.38585816A>T | CA352141821 | SCN5A | c.2662T>A (p.Phe888Ile) c.2533T>A (p.Phe845Ile) | |
| 3 | g.38585817G>A | CA433332746 | SCN5A | c.2661C>T (p.Ala887=) c.2532C>T (p.Ala844=) | |
| 3 | g.38585817G>C | CA433332747 | SCN5A | c.2661C>G (p.Ala887=) c.2532C>G (p.Ala844=) | |
| 3 | g.38585817G>T | CA433332748 | SCN5A | c.2661C>A (p.Ala887=) c.2532C>A (p.Ala844=) | |
| 3 | g.38585818G>A | CA352141824 | SCN5A | c.2660C>T (p.Ala887Val) c.2531C>T (p.Ala844Val) | ClinVar dbSNP |
| 3 | g.38585818G>C | CA352141825 | SCN5A | c.2660C>G (p.Ala887Gly) c.2531C>G (p.Ala844Gly) | |
| 3 | g.38585818G>T | CA352141827 | SCN5A | c.2660C>A (p.Ala887Asp) c.2531C>A (p.Ala844Asp) | |
| 3 | g.38585819C>A | CA352141829 | SCN5A | c.2659G>T (p.Ala887Ser) c.2530G>T (p.Ala844Ser) | |
| 3 | g.38585819C>G | CA352141831 | SCN5A | c.2659G>C (p.Ala887Pro) c.2530G>C (p.Ala844Pro) | |
| 3 | g.38585819C>T | CA352141830 | SCN5A | c.2659G>A (p.Ala887Thr) c.2530G>A (p.Ala844Thr) | |
| 3 | g.38585820A>C | CA352141834 | SCN5A | c.2658T>G (p.His886Gln) c.2529T>G (p.His843Gln) | |
| 3 | g.38585820A>G | CA433332753 | SCN5A | c.2658T>C (p.His886=) c.2529T>C (p.His843=) | |
| 3 | g.38585820A>T | CA352141835 | SCN5A | c.2658T>A (p.His886Gln) c.2529T>A (p.His843Gln) | gnomAD v4 |
| 3 | g.38585821T>A | CA352141838 | SCN5A | c.2657A>T (p.His886Leu) c.2528A>T (p.His843Leu) | |
| 3 | g.38585821T>C | CA352141839 | SCN5A | c.2657A>G (p.His886Arg) c.2528A>G (p.His843Arg) | ClinVar dbSNP |
| 3 | g.38585821T>G | CA016358 | SCN5A | c.2657A>C (p.His886Pro) c.2528A>C (p.His843Pro) | ClinVar dbSNP gnomAD v2 |
| 3 | g.38585821T= | CA1358577448 | SCN5A | c.2657A= (p.His886=) c.2528A= (p.His843=) | |
| 3 | g.38585822G>A | CA352141842 | SCN5A | c.2656C>T (p.His886Tyr) c.2527C>T (p.His843Tyr) | ClinVar dbSNP |
| 3 | g.38585822G>C | CA352141844 | SCN5A | c.2656C>G (p.His886Asp) c.2527C>G (p.His843Asp) | COSMIC COSMIC COSMIC |
| 3 | g.38585822G= | CA1358577449 | SCN5A | c.2656C= (p.His886=) c.2527C= (p.His843=) | |
| 3 | g.38585822G>T | CA352141845 | SCN5A | c.2656C>A (p.His886Asn) c.2527C>A (p.His843Asn) | ClinVar |
| 3 | g.38585823A>C | CA352141848 | SCN5A | c.2655T>G (p.Phe885Leu) c.2526T>G (p.Phe842Leu) | |
| 3 | g.38585823A>G | CA433332755 | SCN5A | c.2655T>C (p.Phe885=) c.2526T>C (p.Phe842=) | ClinVar |
| 3 | g.38585823A>T | CA352141850 | SCN5A | c.2655T>A (p.Phe885Leu) c.2526T>A (p.Phe842Leu) | |
| 3 | g.38585824A>C | CA352141853 | SCN5A | c.2654T>G (p.Phe885Cys) c.2525T>G (p.Phe842Cys) | |
| 3 | g.38585824A>G | CA352141854 | SCN5A | c.2654T>C (p.Phe885Ser) c.2525T>C (p.Phe842Ser) | |
| 3 | g.38585824A>T | CA352141855 | SCN5A | c.2654T>A (p.Phe885Tyr) c.2525T>A (p.Phe842Tyr) | |
| 3 | g.38585825A>C | CA352141861 | SCN5A | c.2653T>G (p.Phe885Val) c.2524T>G (p.Phe842Val) | |
| 3 | g.38585825A>G | CA352141859 | SCN5A | c.2653T>C (p.Phe885Leu) c.2524T>C (p.Phe842Leu) | |
| 3 | g.38585825A>T | CA352141858 | SCN5A | c.2653T>A (p.Phe885Ile) c.2524T>A (p.Phe842Ile) | |
| 3 | g.38585826G>A | CA433332758 | SCN5A | c.2652C>T (p.Phe884=) c.2523C>T (p.Phe841=) | |
| 3 | g.38585826G>C | CA352141864 | SCN5A | c.2652C>G (p.Phe884Leu) c.2523C>G (p.Phe841Leu) | |
| 3 | g.38585826G>T | CA352141865 | SCN5A | c.2652C>A (p.Phe884Leu) c.2523C>A (p.Phe841Leu) | |
| 3 | g.38585827A>C | CA352141867 | SCN5A | c.2651T>G (p.Phe884Cys) c.2522T>G (p.Phe841Cys) | |
| 3 | g.38585827A>G | CA352141869 | SCN5A | c.2651T>C (p.Phe884Ser) c.2522T>C (p.Phe841Ser) | |
| 3 | g.38585827A>T | CA352141870 | SCN5A | c.2651T>A (p.Phe884Tyr) c.2522T>A (p.Phe841Tyr) | |
| 3 | g.38585828A>C | CA352141872 | SCN5A | c.2650T>G (p.Phe884Val) c.2521T>G (p.Phe841Val) | |
| 3 | g.38585828A>G | CA352141873 | SCN5A | c.2650T>C (p.Phe884Leu) c.2521T>C (p.Phe841Leu) | |
| 3 | g.38585828A>T | CA352141875 | SCN5A | c.2650T>A (p.Phe884Ile) c.2521T>A (p.Phe841Ile) | |
| 3 | g.38585829G>A | CA433332760 | SCN5A | c.2649C>T (p.Asp883=) c.2520C>T (p.Asp840=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38585829G>C | CA352141877 | SCN5A | c.2649C>G (p.Asp883Glu) c.2520C>G (p.Asp840Glu) | |
| 3 | g.38585829G= | CA1358577450 | SCN5A | c.2649C= (p.Asp883=) c.2520C= (p.Asp840=) | |
| 3 | g.38585829G>T | CA352141879 | SCN5A | c.2649C>A (p.Asp883Glu) c.2520C>A (p.Asp840Glu) | gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38585830T>A | CA352141882 | SCN5A | c.2648A>T (p.Asp883Val) c.2519A>T (p.Asp840Val) | |
| 3 | g.38585830T>C | CA352141884 | SCN5A | c.2648A>G (p.Asp883Gly) c.2519A>G (p.Asp840Gly) | ClinVar dbSNP |
| 3 | g.38585830T>G | CA352141885 | SCN5A | c.2648A>C (p.Asp883Ala) c.2519A>C (p.Asp840Ala) | |
| 3 | g.38585830T= | CA1358577451 | SCN5A | c.2648A= (p.Asp883=) c.2519A= (p.Asp840=) | |
| 3 | g.38585831C>A | CA352141886 | SCN5A | c.2647G>T (p.Asp883Tyr) c.2518G>T (p.Asp840Tyr) | |
| 3 | g.38585831C= | CA1358577452 | SCN5A | c.2647G= (p.Asp883=) c.2518G= (p.Asp840=) | |
| 3 | g.38585831C>G | CA352141887 | SCN5A | c.2647G>C (p.Asp883His) c.2518G>C (p.Asp840His) | |
| 3 | g.38585831C>T | CA016349 | SCN5A | c.2647G>A (p.Asp883Asn) c.2518G>A (p.Asp840Asn) | ClinVar dbSNP |
| 3 | g.38585832C>A | CA352141889 | SCN5A | c.2646G>T (p.Met882Ile) c.2517G>T (p.Met839Ile) | |
| 3 | g.38585832C>G | CA352141891 | SCN5A | c.2646G>C (p.Met882Ile) c.2517G>C (p.Met839Ile) | |
| 3 | g.38585832C>T | CA352141893 | SCN5A | c.2646G>A (p.Met882Ile) c.2517G>A (p.Met839Ile) | gnomAD v4 |
| 3 | g.38585833A= | CA1358577453 | SCN5A | c.2645T= (p.Met882=) c.2516T= (p.Met839=) | |
| 3 | g.38585833A>C | CA352141895 | SCN5A | c.2645T>G (p.Met882Arg) c.2516T>G (p.Met839Arg) | |
| 3 | g.38585833A>G | CA352141897 | SCN5A | c.2645T>C (p.Met882Thr) c.2516T>C (p.Met839Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38585833A>T | CA352141899 | SCN5A | c.2645T>A (p.Met882Lys) c.2516T>A (p.Met839Lys) | |
| 3 | g.38585834T>A | CA352141902 | SCN5A | c.2644A>T (p.Met882Leu) c.2515A>T (p.Met839Leu) | |
| 3 | g.38585834T>C | CA352141903 | SCN5A | c.2644A>G (p.Met882Val) c.2515A>G (p.Met839Val) | |
| 3 | g.38585834T>G | CA352141904 | SCN5A | c.2644A>C (p.Met882Leu) c.2515A>C (p.Met839Leu) | |
| 3 | g.38585835C>A | CA352141906 | SCN5A | c.2643G>T (p.Met881Ile) c.2514G>T (p.Met838Ile) | ClinVar dbSNP |
| 3 | g.38585835C= | CA1358577454 | SCN5A | c.2643G= (p.Met881=) c.2514G= (p.Met838=) | |
| 3 | g.38585835C>G | CA352141907 | SCN5A | c.2643G>C (p.Met881Ile) c.2514G>C (p.Met838Ile) | |
| 3 | g.38585835C>T | CA352141908 | SCN5A | c.2643G>A (p.Met881Ile) c.2514G>A (p.Met838Ile) | |
| 3 | g.38585836A>C | CA352141915 | SCN5A | c.2642T>G (p.Met881Arg) c.2513T>G (p.Met838Arg) | |
| 3 | g.38585836A>G | CA352141910 | SCN5A | c.2642T>C (p.Met881Thr) c.2513T>C (p.Met838Thr) | |
| 3 | g.38585836A>T | CA352141913 | SCN5A | c.2642T>A (p.Met881Lys) c.2513T>A (p.Met838Lys) | |
| 3 | g.38585837T>A | CA352141916 | SCN5A | c.2641A>T (p.Met881Leu) c.2512A>T (p.Met838Leu) | |
| 3 | g.38585837T>C | CA352141918 | SCN5A | c.2641A>G (p.Met881Val) c.2512A>G (p.Met838Val) | |
| 3 | g.38585837T>G | CA352141919 | SCN5A | c.2641A>C (p.Met881Leu) c.2512A>C (p.Met838Leu) | ClinVar |
| 3 | g.38585839_38585840del | CA2665113668 | SCN5A | c.2640_2641del (p.Met881AspfsTer?) c.2511_2512del (p.Met838AspfsTer?) | gnomAD v4 |
| 3 | g.38585838G>A | CA433332768 | SCN5A | c.2640C>T (p.His880=) c.2511C>T (p.His837=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38585838G>C | CA352141922 | SCN5A | c.2640C>G (p.His880Gln) c.2511C>G (p.His837Gln) | |
| 3 | g.38585838G= | CA1358577455 | SCN5A | c.2640C= (p.His880=) c.2511C= (p.His837=) | |
| 3 | g.38585838G>T | CA352141923 | SCN5A | c.2640C>A (p.His880Gln) c.2511C>A (p.His837Gln) | |
| 3 | g.38585839T>A | CA352141924 | SCN5A | c.2639A>T (p.His880Leu) c.2510A>T (p.His837Leu) | |
| 3 | g.38585839T>C | CA352141925 | SCN5A | c.2639A>G (p.His880Arg) c.2510A>G (p.His837Arg) | |
| 3 | g.38585839T>G | CA352141927 | SCN5A | c.2639A>C (p.His880Pro) c.2510A>C (p.His837Pro) | |
| 3 | g.38585840G>A | CA352141928 | SCN5A | c.2638C>T (p.His880Tyr) c.2509C>T (p.His837Tyr) | ClinVar |
| 3 | g.38585840G>C | CA352141929 | SCN5A | c.2638C>G (p.His880Asp) c.2509C>G (p.His837Asp) | |
| 3 | g.38585840G>T | CA352141931 | SCN5A | c.2638C>A (p.His880Asn) c.2509C>A (p.His837Asn) | ClinVar dbSNP |
| 3 | g.38585841C>A | CA352141937 | SCN5A | c.2637G>T (p.Trp879Cys) c.2508G>T (p.Trp836Cys) | |
| 3 | g.38585841C= | CA1358577456 | SCN5A | c.2637G= (p.Trp879=) c.2508G= (p.Trp836=) | |
| 3 | g.38585841C>G | CA352141936 | SCN5A | c.2637G>C (p.Trp879Cys) c.2508G>C (p.Trp836Cys) | |
| 3 | g.38585841C>T | CA352141934 | SCN5A | c.2637G>A (p.Trp879Ter) c.2508G>A (p.Trp836Ter) | dbSNP |
| 3 | g.38585842C>A | CA352141939 | SCN5A | c.2636G>T (p.Trp879Leu) c.2507G>T (p.Trp836Leu) | |
| 3 | g.38585842C= | CA1358577457 | SCN5A | c.2636G= (p.Trp879=) c.2507G= (p.Trp836=) | |
| 3 | g.38585842C>G | CA352141941 | SCN5A | c.2636G>C (p.Trp879Ser) c.2507G>C (p.Trp836Ser) | |
| 3 | g.38585842C>T | CA16611268 | SCN5A | c.2636G>A (p.Trp879Ter) c.2507G>A (p.Trp836Ter) | ClinVar dbSNP |
| 3 | g.38585843A>C | CA352141943 | SCN5A | c.2635T>G (p.Trp879Gly) c.2506T>G (p.Trp836Gly) | |
| 3 | g.38585843A>G | CA352141945 | SCN5A | c.2635T>C (p.Trp879Arg) c.2506T>C (p.Trp836Arg) | |
| 3 | g.38585843A>T | CA352141947 | SCN5A | c.2635T>A (p.Trp879Arg) c.2506T>A (p.Trp836Arg) | |
| 3 | g.38585844G>A | CA060662 | SCN5A | c.2634C>T (p.Arg878=) c.2505C>T (p.Arg835=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38585844G>C | CA433332770 | SCN5A | c.2634C>G (p.Arg878=) c.2505C>G (p.Arg835=) | |
| 3 | g.38585844G= | CA1358577458 | SCN5A | c.2634C= (p.Arg878=) c.2505C= (p.Arg835=) | |
| 3 | g.38585844G>T | CA433332769 | SCN5A | c.2634C>A (p.Arg878=) c.2505C>A (p.Arg835=) | ClinVar |
| 3 | g.38585845C>A | CA352141950 | SCN5A | c.2633G>T (p.Arg878Leu) c.2504G>T (p.Arg835Leu) | gnomAD v4 |
| 3 | g.38585845C= | CA1358577459 | SCN5A | c.2633G= (p.Arg878=) c.2504G= (p.Arg835=) | |
| 3 | g.38585845C>G | CA352141952 | SCN5A | c.2633G>C (p.Arg878Pro) c.2504G>C (p.Arg835Pro) | |
| 3 | g.38585845C>T | CA016340 | SCN5A | c.2633G>A (p.Arg878His) c.2504G>A (p.Arg835His) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38585846G>A | CA016333 | SCN5A | c.2632C>T (p.Arg878Cys) c.2503C>T (p.Arg835Cys) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38585846G>C | CA352141956 | SCN5A | c.2632C>G (p.Arg878Gly) c.2503C>G (p.Arg835Gly) | |
| 3 | g.38585846G= | CA1358577460 | SCN5A | c.2632C= (p.Arg878=) c.2503C= (p.Arg835=) | |
| 3 | g.38585846G>T | CA352141958 | SCN5A | c.2632C>A (p.Arg878Ser) c.2503C>A (p.Arg835Ser) | |
| 3 | g.38585847A>C | CA433332771 | SCN5A | c.2631T>G (p.Pro877=) c.2502T>G (p.Pro834=) | |
| 3 | g.38585847A>G | CA433332773 | SCN5A | c.2631T>C (p.Pro877=) c.2502T>C (p.Pro834=) | |
| 3 | g.38585847A>T | CA433332772 | SCN5A | c.2631T>A (p.Pro877=) c.2502T>A (p.Pro834=) | |
| 3 | g.38585848G>A | CA352141959 | SCN5A | c.2630C>T (p.Pro877Leu) c.2501C>T (p.Pro834Leu) | |
| 3 | g.38585848G>C | CA16611390 | SCN5A | c.2630C>G (p.Pro877Arg) c.2501C>G (p.Pro834Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38585848G= | CA1358577461 | SCN5A | c.2630C= (p.Pro877=) c.2501C= (p.Pro834=) | |
| 3 | g.38585848G>T | CA352141961 | SCN5A | c.2630C>A (p.Pro877His) c.2501C>A (p.Pro834His) | |
| 3 | g.38585849G>A | CA352141963 | SCN5A | c.2629C>T (p.Pro877Ser) c.2500C>T (p.Pro834Ser) | |
| 3 | g.38585849G>C | CA352141967 | SCN5A | c.2629C>G (p.Pro877Ala) c.2500C>G (p.Pro834Ala) | |
| 3 | g.38585849G>T | CA352141965 | SCN5A | c.2629C>A (p.Pro877Thr) c.2500C>A (p.Pro834Thr) | |
| 3 | g.38585850C>A | CA433332774 | SCN5A | c.2628G>T (p.Leu876=) c.2499G>T (p.Leu833=) | |
| 3 | g.38585850C= | CA1358577462 | SCN5A | c.2628G= (p.Leu876=) c.2499G= (p.Leu833=) | |
| 3 | g.38585850C>G | CA433332775 | SCN5A | c.2628G>C (p.Leu876=) c.2499G>C (p.Leu833=) | |
| 3 | g.38585850C>T | CA433332776 | SCN5A | c.2628G>A (p.Leu876=) c.2499G>A (p.Leu833=) | dbSNP |
| 3 | g.38585851A= | CA1358577463 | SCN5A | c.2627T= (p.Leu876=) c.2498T= (p.Leu833=) | |
| 3 | g.38585851A>C | CA72928602 | SCN5A | c.2627T>G (p.Leu876Arg) c.2498T>G (p.Leu833Arg) | dbSNP |
| 3 | g.38585851A>G | CA352141970 | SCN5A | c.2627T>C (p.Leu876Pro) c.2498T>C (p.Leu833Pro) | |
| 3 | g.38585851A>T | CA352141972 | SCN5A | c.2627T>A (p.Leu876Gln) c.2498T>A (p.Leu833Gln) | |
| 3 | g.38585852G>A | CA433332777 | SCN5A | c.2626C>T (p.Leu876=) c.2497C>T (p.Leu833=) | |
| 3 | g.38585852G>C | CA352141974 | SCN5A | c.2626C>G (p.Leu876Val) c.2497C>G (p.Leu833Val) | |
| 3 | g.38585852G= | CA1358577464 | SCN5A | c.2626C= (p.Leu876=) c.2497C= (p.Leu833=) | |
| 3 | g.38585852G>T | CA352141975 | SCN5A | c.2626C>A (p.Leu876Met) c.2497C>A (p.Leu833Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38585853C>A | CA433332778 | SCN5A | c.2625G>T (p.Leu875=) c.2496G>T (p.Leu832=) | |
| 3 | g.38585853C>G | CA433332779 | SCN5A | c.2625G>C (p.Leu875=) c.2496G>C (p.Leu832=) | |
| 3 | g.38585853C>T | CA433332780 | SCN5A | c.2625G>A (p.Leu875=) c.2496G>A (p.Leu832=) | |
| 3 | g.38585854A>C | CA352141978 | SCN5A | c.2624T>G (p.Leu875Arg) c.2495T>G (p.Leu832Arg) | |
| 3 | g.38585854A>G | CA352141980 | SCN5A | c.2624T>C (p.Leu875Pro) c.2495T>C (p.Leu832Pro) | ClinVar |
| 3 | g.38585854A>T | CA352141982 | SCN5A | c.2624T>A (p.Leu875Gln) c.2495T>A (p.Leu832Gln) | |
| 3 | g.38585855G>A | CA433332781 | SCN5A | c.2623C>T (p.Leu875=) c.2494C>T (p.Leu832=) | gnomAD v4 |
| 3 | g.38585855G>C | CA352141984 | SCN5A | c.2623C>G (p.Leu875Val) c.2494C>G (p.Leu832Val) | |
| 3 | g.38585855G>T | CA352141986 | SCN5A | c.2623C>A (p.Leu875Met) c.2494C>A (p.Leu832Met) | |
| 3 | g.38585856G>A | CA433332782 | SCN5A | c.2622C>T (p.Gly874=) c.2493C>T (p.Gly831=) | |
| 3 | g.38585856G>C | CA060652 | SCN5A | c.2622C>G (p.Gly874=) c.2493C>G (p.Gly831=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38585856G= | CA1358577465 | SCN5A | c.2622C= (p.Gly874=) c.2493C= (p.Gly831=) | |
| 3 | g.38585856G>T | CA433332783 | SCN5A | c.2622C>A (p.Gly874=) c.2493C>A (p.Gly831=) | |
| 3 | g.38585857C>A | CA352141993 | SCN5A | c.2621G>T (p.Gly874Val) c.2492G>T (p.Gly831Val) | |
| 3 | g.38585857C= | CA1358577466 | SCN5A | c.2621G= (p.Gly874=) c.2492G= (p.Gly831=) | |
| 3 | g.38585857C>G | CA352141991 | SCN5A | c.2621G>C (p.Gly874Ala) c.2492G>C (p.Gly831Ala) | |
| 3 | g.38585857C>T | CA060647 | SCN5A | c.2621G>A (p.Gly874Asp) c.2492G>A (p.Gly831Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38585858C>A | CA352141999 | SCN5A | c.2620G>T (p.Gly874Cys) c.2491G>T (p.Gly831Cys) | |
| 3 | g.38585858C>G | CA352141995 | SCN5A | c.2620G>C (p.Gly874Arg) c.2491G>C (p.Gly831Arg) | |
| 3 | g.38585858C>T | CA352141997 | SCN5A | c.2620G>A (p.Gly874Ser) c.2491G>A (p.Gly831Ser) | |
| 3 | g.38585859T>A | CA433332784 | SCN5A | c.2619A>T (p.Ser873=) c.2490A>T (p.Ser830=) | |
| 3 | g.38585859T>C | CA433332785 | SCN5A | c.2619A>G (p.Ser873=) c.2490A>G (p.Ser830=) | gnomAD v4 |
| 3 | g.38585859T>G | CA433332786 | SCN5A | c.2619A>C (p.Ser873=) c.2490A>C (p.Ser830=) | |
| 3 | g.38585860G>A | CA016321 | SCN5A | c.2618C>T (p.Ser873Leu) c.2489C>T (p.Ser830Leu) | ClinVar dbSNP |
| 3 | g.38585860G>C | CA352142002 | SCN5A | c.2618C>G (p.Ser873Ter) c.2489C>G (p.Ser830Ter) | ClinVar dbSNP |
| 3 | g.38585860G= | CA1358577467 | SCN5A | c.2618C= (p.Ser873=) c.2489C= (p.Ser830=) | |
| 3 | g.38585860G>T | CA352142004 | SCN5A | c.2618C>A (p.Ser873Ter) c.2489C>A (p.Ser830Ter) |