Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38581282G>A | CA433332610 | SCN5A | c.2877C>T (p.Leu959=) c.2748C>T (p.Leu916=) | gnomAD v4 |
3 | g.38581282G>C | CA433332612 | SCN5A | c.2877C>G (p.Leu959=) c.2748C>G (p.Leu916=) | gnomAD v4 |
3 | g.38581282G>T | CA433332615 | SCN5A | c.2877C>A (p.Leu959=) c.2748C>A (p.Leu916=) | |
3 | g.38581283A= | CA1358574567 | SCN5A | c.2876T= (p.Leu959=) c.2747T= (p.Leu916=) | |
3 | g.38581283A>C | CA352140407 | SCN5A | c.2876T>G (p.Leu959Arg) c.2747T>G (p.Leu916Arg) | |
3 | g.38581283A>G | CA352140409 | SCN5A | c.2876T>C (p.Leu959Pro) c.2747T>C (p.Leu916Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38581283A>T | CA352140410 | SCN5A | c.2876T>A (p.Leu959His) c.2747T>A (p.Leu916His) | |
3 | g.38581284G>A | CA352140413 | SCN5A | c.2875C>T (p.Leu959Phe) c.2746C>T (p.Leu916Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38581284G>C | CA352140415 | SCN5A | c.2875C>G (p.Leu959Val) c.2746C>G (p.Leu916Val) | gnomAD v4 |
3 | g.38581284G= | CA1358574570 | SCN5A | c.2875C= (p.Leu959=) c.2746C= (p.Leu916=) | |
3 | g.38581284G>T | CA352140416 | SCN5A | c.2875C>A (p.Leu959Ile) c.2746C>A (p.Leu916Ile) | |
3 | g.38581285G>A | CA433332621 | SCN5A | c.2874C>T (p.Asn958=) c.2745C>T (p.Asn915=) | |
3 | g.38581285G>C | CA352140418 | SCN5A | c.2874C>G (p.Asn958Lys) c.2745C>G (p.Asn915Lys) | |
3 | g.38581285G= | CA1358574571 | SCN5A | c.2874C= (p.Asn958=) c.2745C= (p.Asn915=) | |
3 | g.38581285G>T | CA72926407 | SCN5A | c.2874C>A (p.Asn958Lys) c.2745C>A (p.Asn915Lys) | ClinVar dbSNP |
3 | g.38581288_38581290del | CA2702484102 | SCN5A | c.2872_2874del (p.Asn958del) c.2743_2745del (p.Asn915del) | dbSNP |
3 | g.38581286T>A | CA352140423 | SCN5A | c.2873A>T (p.Asn958Ile) c.2744A>T (p.Asn915Ile) | |
3 | g.38581286T>C | CA352140425 | SCN5A | c.2873A>G (p.Asn958Ser) c.2744A>G (p.Asn915Ser) | ClinVar dbSNP |
3 | g.38581286T>G | CA352140421 | SCN5A | c.2873A>C (p.Asn958Thr) c.2744A>C (p.Asn915Thr) | |
3 | g.38581286T= | CA1358574573 | SCN5A | c.2873A= (p.Asn958=) c.2744A= (p.Asn915=) | |
3 | g.38581287T>A | CA352140429 | SCN5A | c.2872A>T (p.Asn958Tyr) c.2743A>T (p.Asn915Tyr) | |
3 | g.38581287T>C | CA352140428 | SCN5A | c.2872A>G (p.Asn958Asp) c.2743A>G (p.Asn915Asp) | |
3 | g.38581287T>G | CA352140431 | SCN5A | c.2872A>C (p.Asn958His) c.2743A>C (p.Asn915His) | |
3 | g.38581288G>A | CA433332634 | SCN5A | c.2871C>T (p.Asn957=) c.2742C>T (p.Asn914=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38581288G>C | CA352140433 | SCN5A | c.2871C>G (p.Asn957Lys) c.2742C>G (p.Asn914Lys) | |
3 | g.38581288G= | CA1358574575 | SCN5A | c.2871C= (p.Asn957=) c.2742C= (p.Asn914=) | |
3 | g.38581288G>T | CA352140435 | SCN5A | c.2871C>A (p.Asn957Lys) c.2742C>A (p.Asn914Lys) | |
3 | g.38581289T>A | CA352140437 | SCN5A | c.2870A>T (p.Asn957Ile) c.2741A>T (p.Asn914Ile) | gnomAD v4 |
3 | g.38581289T>C | CA352140438 | SCN5A | c.2870A>G (p.Asn957Ser) c.2741A>G (p.Asn914Ser) | gnomAD v4 |
3 | g.38581289T>G | CA352140441 | SCN5A | c.2870A>C (p.Asn957Thr) c.2741A>C (p.Asn914Thr) | |
3 | g.38581290T>A | CA352140443 | SCN5A | c.2869A>T (p.Asn957Tyr) c.2740A>T (p.Asn914Tyr) | |
3 | g.38581290T>C | CA352140445 | SCN5A | c.2869A>G (p.Asn957Asp) c.2740A>G (p.Asn914Asp) | gnomAD v4 |
3 | g.38581290T>G | CA352140448 | SCN5A | c.2869A>C (p.Asn957His) c.2740A>C (p.Asn914His) | |
3 | g.38581291C>A | CA352140450 | SCN5A | c.2868G>T (p.Met956Ile) c.2739G>T (p.Met913Ile) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38581291C= | CA1358574576 | SCN5A | c.2868G= (p.Met956=) c.2739G= (p.Met913=) | |
3 | g.38581291C>G | CA352140453 | SCN5A | c.2868G>C (p.Met956Ile) c.2739G>C (p.Met913Ile) | |
3 | g.38581291C>T | CA352140454 | SCN5A | c.2868G>A (p.Met956Ile) c.2739G>A (p.Met913Ile) | |
3 | g.38581292A= | CA1358574577 | SCN5A | c.2867T= (p.Met956=) c.2738T= (p.Met913=) | |
3 | g.38581292A>C | CA352140460 | SCN5A | c.2867T>G (p.Met956Arg) c.2738T>G (p.Met913Arg) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38581292A>G | CA352140459 | SCN5A | c.2867T>C (p.Met956Thr) c.2738T>C (p.Met913Thr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38581292A>T | CA352140457 | SCN5A | c.2867T>A (p.Met956Lys) c.2738T>A (p.Met913Lys) | ClinVar |
3 | g.38581292_38581294delinsATC | CA1358574579 | SCN5A | c.2865_2867delinsGAT (p.Glu955=) c.2736_2738delinsGAT (p.Glu912=) | |
3 | g.38581293T>A | CA352140462 | SCN5A | c.2866A>T (p.Met956Leu) c.2737A>T (p.Met913Leu) | ClinVar |
3 | g.38581293T>C | CA352140465 | SCN5A | c.2866A>G (p.Met956Val) c.2737A>G (p.Met913Val) | ClinVar |
3 | g.38581293T>G | CA352140467 | SCN5A | c.2866A>C (p.Met956Leu) c.2737A>C (p.Met913Leu) | gnomAD v4 |
3 | g.38581298_38581299del | CA060987 | SCN5A | c.2865_2866del (p.Glu955AspfsTer?) c.2736_2737del (p.Glu912AspfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38581294C>A | CA352140471 | SCN5A | c.2865G>T (p.Glu955Asp) c.2736G>T (p.Glu912Asp) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38581294C= | CA1358574583 | SCN5A | c.2865G= (p.Glu955=) c.2736G= (p.Glu912=) | |
3 | g.38581294C>G | CA352140472 | SCN5A | c.2865G>C (p.Glu955Asp) c.2736G>C (p.Glu912Asp) | |
3 | g.38581294C>T | CA433332656 | SCN5A | c.2865G>A (p.Glu955=) c.2736G>A (p.Glu912=) | gnomAD v4 |
3 | g.38581295T>A | CA352140474 | SCN5A | c.2864A>T (p.Glu955Val) c.2735A>T (p.Glu912Val) | |
3 | g.38581295T>C | CA352140476 | SCN5A | c.2864A>G (p.Glu955Gly) c.2735A>G (p.Glu912Gly) | |
3 | g.38581295T>G | CA352140478 | SCN5A | c.2864A>C (p.Glu955Ala) c.2735A>C (p.Glu912Ala) | |
3 | g.38581296C>A | CA352140480 | SCN5A | c.2863G>T (p.Glu955Ter) c.2734G>T (p.Glu912Ter) | dbSNP |
3 | g.38581296C= | CA1358574584 | SCN5A | c.2863G= (p.Glu955=) c.2734G= (p.Glu912=) | |
3 | g.38581296C>G | CA352140482 | SCN5A | c.2863G>C (p.Glu955Gln) c.2734G>C (p.Glu912Gln) | |
3 | g.38581296C>T | CA352140484 | SCN5A | c.2863G>A (p.Glu955Lys) c.2734G>A (p.Glu912Lys) | COSMIC COSMIC COSMIC |
3 | g.38581297T>A | CA352140487 | SCN5A | c.2862A>T (p.Arg954Ser) c.2733A>T (p.Arg911Ser) | |
3 | g.38581297T>C | CA433332663 | SCN5A | c.2862A>G (p.Arg954=) c.2733A>G (p.Arg911=) | |
3 | g.38581297T>G | CA352140485 | SCN5A | c.2862A>C (p.Arg954Ser) c.2733A>C (p.Arg911Ser) | |
3 | g.38581298C>A | CA352140490 | SCN5A | c.2861G>T (p.Arg954Ile) c.2732G>T (p.Arg911Ile) | |
3 | g.38581298C>G | CA352140491 | SCN5A | c.2861G>C (p.Arg954Thr) c.2732G>C (p.Arg911Thr) | |
3 | g.38581298C>T | CA352140493 | SCN5A | c.2861G>A (p.Arg954Lys) c.2732G>A (p.Arg911Lys) | gnomAD v4 |
3 | g.38581298_38581299delinsCT | CA1358574586 | SCN5A | c.2860_2861delinsAG (p.Arg954=) c.2731_2732delinsAG (p.Arg911=) | |
3 | g.38581299del | CA1139657966 | SCN5A | c.2860del (p.Arg954GlufsTer3) c.2731del (p.Arg911GlufsTer3) | ClinVar dbSNP |
3 | g.38581299T>A | CA352140495 | SCN5A | c.2860A>T (p.Arg954Ter) c.2731A>T (p.Arg911Ter) | dbSNP |
3 | g.38581299T>C | CA352140497 | SCN5A | c.2860A>G (p.Arg954Gly) c.2731A>G (p.Arg911Gly) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38581299T>G | CA433332669 | SCN5A | c.2860A>C (p.Arg954=) c.2731A>C (p.Arg911=) | |
3 | g.38581299T= | CA1358574587 | SCN5A | c.2860A= (p.Arg954=) c.2731A= (p.Arg911=) | |
3 | g.38581300G>A | CA433332672 | SCN5A | c.2859C>T (p.Asp953=) c.2730C>T (p.Asp910=) | |
3 | g.38581300G>C | CA016578 | SCN5A | c.2859C>G (p.Asp953Glu) c.2730C>G (p.Asp910Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38581300G= | CA1358574588 | SCN5A | c.2859C= (p.Asp953=) c.2730C= (p.Asp910=) | |
3 | g.38581300G>T | CA352140500 | SCN5A | c.2859C>A (p.Asp953Glu) c.2730C>A (p.Asp910Glu) | |
3 | g.38581301T>A | CA352140502 | SCN5A | c.2858A>T (p.Asp953Val) c.2729A>T (p.Asp910Val) | |
3 | g.38581301T>C | CA352140504 | SCN5A | c.2858A>G (p.Asp953Gly) c.2729A>G (p.Asp910Gly) | ClinVar |
3 | g.38581301T>G | CA352140506 | SCN5A | c.2858A>C (p.Asp953Ala) c.2729A>C (p.Asp910Ala) | |
3 | g.38581302C>A | CA060979 | SCN5A | c.2857G>T (p.Asp953Tyr) c.2728G>T (p.Asp910Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38581302C= | CA1358574590 | SCN5A | c.2857G= (p.Asp953=) c.2728G= (p.Asp910=) | |
3 | g.38581302C>G | CA352140509 | SCN5A | c.2857G>C (p.Asp953His) c.2728G>C (p.Asp910His) | |
3 | g.38581302C>T | CA352140511 | SCN5A | c.2857G>A (p.Asp953Asn) c.2728G>A (p.Asp910Asn) | COSMIC COSMIC COSMIC |
3 | g.38581303C>A | CA352140515 | SCN5A | c.2856G>T (p.Glu952Asp) c.2727G>T (p.Glu909Asp) | |
3 | g.38581303C>G | CA352140513 | SCN5A | c.2856G>C (p.Glu952Asp) c.2727G>C (p.Glu909Asp) | |
3 | g.38581303C>T | CA433332677 | SCN5A | c.2856G>A (p.Glu952=) c.2727G>A (p.Glu909=) | gnomAD v4 |
3 | g.38581304T>A | CA352140517 | SCN5A | c.2855A>T (p.Glu952Val) c.2726A>T (p.Glu909Val) | |
3 | g.38581304T>C | CA352140522 | SCN5A | c.2855A>G (p.Glu952Gly) c.2726A>G (p.Glu909Gly) | |
3 | g.38581304T>G | CA352140524 | SCN5A | c.2855A>C (p.Glu952Ala) c.2726A>C (p.Glu909Ala) | |
3 | g.38581305C>A | CA352140526 | SCN5A | c.2854G>T (p.Glu952Ter) c.2725G>T (p.Glu909Ter) | dbSNP |
3 | g.38581305C= | CA1358574592 | SCN5A | c.2854G= (p.Glu952=) c.2725G= (p.Glu909=) | |
3 | g.38581305C>G | CA352140528 | SCN5A | c.2854G>C (p.Glu952Gln) c.2725G>C (p.Glu909Gln) | |
3 | g.38581305C>T | CA060975 | SCN5A | c.2854G>A (p.Glu952Lys) c.2725G>A (p.Glu909Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38581306A= | CA1358574594 | SCN5A | c.2853T= (p.Asp951=) c.2724T= (p.Asp908=) | |
3 | g.38581306A>C | CA352140531 | SCN5A | c.2853T>G (p.Asp951Glu) c.2724T>G (p.Asp908Glu) | gnomAD v4 |
3 | g.38581306A>G | CA433332686 | SCN5A | c.2853T>C (p.Asp951=) c.2724T>C (p.Asp908=) | ClinVar dbSNP |
3 | g.38581306A>T | CA352140533 | SCN5A | c.2853T>A (p.Asp951Glu) c.2724T>A (p.Asp908Glu) | |
3 | g.38581307T>A | CA352140536 | SCN5A | c.2852A>T (p.Asp951Val) c.2723A>T (p.Asp908Val) | |
3 | g.38581307T>C | CA352140537 | SCN5A | c.2852A>G (p.Asp951Gly) c.2723A>G (p.Asp908Gly) | |
3 | g.38581307T>G | CA352140540 | SCN5A | c.2852A>C (p.Asp951Ala) c.2723A>C (p.Asp908Ala) | |
3 | g.38581308C>A | CA352140542 | SCN5A | c.2851G>T (p.Asp951Tyr) c.2722G>T (p.Asp908Tyr) | |
3 | g.38581308C>G | CA352140544 | SCN5A | c.2851G>C (p.Asp951His) c.2722G>C (p.Asp908His) | |
3 | g.38581308C>T | CA352140546 | SCN5A | c.2851G>A (p.Asp951Asn) c.2722G>A (p.Asp908Asn) | COSMIC COSMIC COSMIC |
3 | g.38581309del | CA2586972021 | SCN5A | c.2850del (p.Asp951MetfsTer6) c.2721del (p.Asp908MetfsTer6) | |
3 | g.38581309A>C | CA433332688 | SCN5A | c.2850T>G (p.Pro950=) c.2721T>G (p.Pro907=) | |
3 | g.38581309A>G | CA433332689 | SCN5A | c.2850T>C (p.Pro950=) c.2721T>C (p.Pro907=) | |
3 | g.38581309A>T | CA433332690 | SCN5A | c.2850T>A (p.Pro950=) c.2721T>A (p.Pro907=) | dbSNP |
3 | g.38581309_38581310del | CA2573052156 | SCN5A | c.2849_2850del (p.Pro950ArgfsTer2) c.2720_2721del (p.Pro907ArgfsTer2) | ClinVar dbSNP gnomAD v4 |
3 | g.38581310G>A | CA352140551 | SCN5A | c.2849C>T (p.Pro950Leu) c.2720C>T (p.Pro907Leu) | |
3 | g.38581310G>C | CA352140553 | SCN5A | c.2849C>G (p.Pro950Arg) c.2720C>G (p.Pro907Arg) | |
3 | g.38581310G>T | CA352140548 | SCN5A | c.2849C>A (p.Pro950His) c.2720C>A (p.Pro907His) | |
3 | g.38581311G>A | CA016569 | SCN5A | c.2848C>T (p.Pro950Ser) c.2719C>T (p.Pro907Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.38581311G>C | CA352140555 | SCN5A | c.2848C>G (p.Pro950Ala) c.2719C>G (p.Pro907Ala) | |
3 | g.38581311G= | CA1358574597 | SCN5A | c.2848C= (p.Pro950=) c.2719C= (p.Pro907=) | |
3 | g.38581311G>T | CA352140557 | SCN5A | c.2848C>A (p.Pro950Thr) c.2719C>A (p.Pro907Thr) | |
3 | g.38581312G>A | CA433332691 | SCN5A | c.2847C>T (p.Ala949=) c.2718C>T (p.Ala906=) | ClinVar |
3 | g.38581312G>C | CA72926422 | SCN5A | c.2847C>G (p.Ala949=) c.2718C>G (p.Ala906=) | ClinVar dbSNP |
3 | g.38581312G= | CA1358574599 | SCN5A | c.2847C= (p.Ala949=) c.2718C= (p.Ala906=) | |
3 | g.38581312G>T | CA433332693 | SCN5A | c.2847C>A (p.Ala949=) c.2718C>A (p.Ala906=) | |
3 | g.38581313G>A | CA352140562 | SCN5A | c.2846C>T (p.Ala949Val) c.2717C>T (p.Ala906Val) | ClinVar dbSNP gnomAD v4 |
3 | g.38581313G>C | CA352140564 | SCN5A | c.2846C>G (p.Ala949Gly) c.2717C>G (p.Ala906Gly) | |
3 | g.38581313G= | CA1358574602 | SCN5A | c.2846C= (p.Ala949=) c.2717C= (p.Ala906=) | |
3 | g.38581313G>T | CA016562 | SCN5A | c.2846C>A (p.Ala949Asp) c.2717C>A (p.Ala906Asp) | ClinVar dbSNP |
3 | g.38581314C>A | CA352140567 | SCN5A | c.2845G>T (p.Ala949Ser) c.2716G>T (p.Ala906Ser) | |
3 | g.38581314C>G | CA352140569 | SCN5A | c.2845G>C (p.Ala949Pro) c.2716G>C (p.Ala906Pro) | |
3 | g.38581314C>T | CA352140571 | SCN5A | c.2845G>A (p.Ala949Thr) c.2716G>A (p.Ala906Thr) | |
3 | g.38581315T>A | CA433332696 | SCN5A | c.2844A>T (p.Thr948=) c.2715A>T (p.Thr905=) | |
3 | g.38581315T>C | CA433332698 | SCN5A | c.2844A>G (p.Thr948=) c.2715A>G (p.Thr905=) | dbSNP |
3 | g.38581315T>G | CA433332699 | SCN5A | c.2844A>C (p.Thr948=) c.2715A>C (p.Thr905=) | |
3 | g.38581315T= | CA1358574606 | SCN5A | c.2844A= (p.Thr948=) c.2715A= (p.Thr905=) | |
3 | g.38581316G>A | CA352140573 | SCN5A | c.2843C>T (p.Thr948Ile) c.2714C>T (p.Thr905Ile) | |
3 | g.38581316G>C | CA352140576 | SCN5A | c.2843C>G (p.Thr948Arg) c.2714C>G (p.Thr905Arg) | |
3 | g.38581316G>T | CA352140577 | SCN5A | c.2843C>A (p.Thr948Lys) c.2714C>A (p.Thr905Lys) | |
3 | g.38581317T>A | CA352140581 | SCN5A | c.2842A>T (p.Thr948Ser) c.2713A>T (p.Thr905Ser) | |
3 | g.38581317T>C | CA352140583 | SCN5A | c.2842A>G (p.Thr948Ala) c.2713A>G (p.Thr905Ala) | |
3 | g.38581317T>G | CA352140579 | SCN5A | c.2842A>C (p.Thr948Pro) c.2713A>C (p.Thr905Pro) | gnomAD v4 |
3 | g.38581318G>A | CA433332703 | SCN5A | c.2841C>T (p.Leu947=) c.2712C>T (p.Leu904=) | ClinVar dbSNP gnomAD v4 |
3 | g.38581318G>C | CA433332704 | SCN5A | c.2841C>G (p.Leu947=) c.2712C>G (p.Leu904=) | ClinVar gnomAD v4 |
3 | g.38581318G= | CA1358574608 | SCN5A | c.2841C= (p.Leu947=) c.2712C= (p.Leu904=) | |
3 | g.38581318G>T | CA433332705 | SCN5A | c.2841C>A (p.Leu947=) c.2712C>A (p.Leu904=) | |
3 | g.38581319A>C | CA352140584 | SCN5A | c.2840T>G (p.Leu947Arg) c.2711T>G (p.Leu904Arg) | |
3 | g.38581319A>G | CA352140586 | SCN5A | c.2840T>C (p.Leu947Pro) c.2711T>C (p.Leu904Pro) | |
3 | g.38581319A>T | CA352140588 | SCN5A | c.2840T>A (p.Leu947His) c.2711T>A (p.Leu904His) | |
3 | g.38581320G>A | CA352140591 | SCN5A | c.2839C>T (p.Leu947Phe) c.2710C>T (p.Leu904Phe) | ClinVar gnomAD v4 |
3 | g.38581320G>C | CA352140593 | SCN5A | c.2839C>G (p.Leu947Val) c.2710C>G (p.Leu904Val) | |
3 | g.38581320G>T | CA352140595 | SCN5A | c.2839C>A (p.Leu947Ile) c.2710C>A (p.Leu904Ile) | |
3 | g.38581321G>A | CA433332706 | SCN5A | c.2838C>T (p.Asn946=) c.2709C>T (p.Asn903=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38581321G>C | CA352140597 | SCN5A | c.2838C>G (p.Asn946Lys) c.2709C>G (p.Asn903Lys) | |
3 | g.38581321G= | CA1358574610 | SCN5A | c.2838C= (p.Asn946=) c.2709C= (p.Asn903=) | |
3 | g.38581321G>T | CA352140599 | SCN5A | c.2838C>A (p.Asn946Lys) c.2709C>A (p.Asn903Lys) | gnomAD v4 |
3 | g.38581322T>A | CA352140601 | SCN5A | c.2837A>T (p.Asn946Ile) c.2708A>T (p.Asn903Ile) | |
3 | g.38581322T>C | CA352140603 | SCN5A | c.2837A>G (p.Asn946Ser) c.2708A>G (p.Asn903Ser) | |
3 | g.38581322T>G | CA352140605 | SCN5A | c.2837A>C (p.Asn946Thr) c.2708A>C (p.Asn903Thr) | ClinVar dbSNP |
3 | g.38581322T= | CA1358574612 | SCN5A | c.2837A= (p.Asn946=) c.2708A= (p.Asn903=) | |
3 | g.38581323T>A | CA352140607 | SCN5A | c.2836A>T (p.Asn946Tyr) c.2707A>T (p.Asn903Tyr) | |
3 | g.38581323T>C | CA352140609 | SCN5A | c.2836A>G (p.Asn946Asp) c.2707A>G (p.Asn903Asp) | |
3 | g.38581323T>G | CA352140610 | SCN5A | c.2836A>C (p.Asn946His) c.2707A>C (p.Asn903His) | |
3 | g.38581324G>A | CA433332708 | SCN5A | c.2835C>T (p.Asp945=) c.2706C>T (p.Asp902=) | ClinVar dbSNP |
3 | g.38581324G>C | CA352140613 | SCN5A | c.2835C>G (p.Asp945Glu) c.2706C>G (p.Asp902Glu) | |
3 | g.38581324G= | CA1358574615 | SCN5A | c.2835C= (p.Asp945=) c.2706C= (p.Asp902=) | |
3 | g.38581324G>T | CA352140615 | SCN5A | c.2835C>A (p.Asp945Glu) c.2706C>A (p.Asp902Glu) | ClinVar dbSNP gnomAD v4 |
3 | g.38581325T>A | CA352140617 | SCN5A | c.2834A>T (p.Asp945Val) c.2705A>T (p.Asp902Val) | |
3 | g.38581325T>C | CA060962 | SCN5A | c.2834A>G (p.Asp945Gly) c.2705A>G (p.Asp902Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38581325T>G | CA352140619 | SCN5A | c.2834A>C (p.Asp945Ala) c.2705A>C (p.Asp902Ala) | |
3 | g.38581325T= | CA1358574619 | SCN5A | c.2834A= (p.Asp945=) c.2705A= (p.Asp902=) | |
3 | g.38581326C>A | CA352140622 | SCN5A | c.2833G>T (p.Asp945Tyr) c.2704G>T (p.Asp902Tyr) | |
3 | g.38581326C>G | CA352140624 | SCN5A | c.2833G>C (p.Asp945His) c.2704G>C (p.Asp902His) | |
3 | g.38581326C>T | CA352140625 | SCN5A | c.2833G>A (p.Asp945Asn) c.2704G>A (p.Asp902Asn) | |
3 | g.38581327T>A | CA433332711 | SCN5A | c.2832A>T (p.Ala944=) c.2703A>T (p.Ala901=) | |
3 | g.38581327T>C | CA433332713 | SCN5A | c.2832A>G (p.Ala944=) c.2703A>G (p.Ala901=) | ClinVar gnomAD v4 |
3 | g.38581327T>G | CA433332714 | SCN5A | c.2832A>C (p.Ala944=) c.2703A>C (p.Ala901=) | |
3 | g.38581328G>A | CA352140627 | SCN5A | c.2831C>T (p.Ala944Val) c.2702C>T (p.Ala901Val) | |
3 | g.38581328G>C | CA352140629 | SCN5A | c.2831C>G (p.Ala944Gly) c.2702C>G (p.Ala901Gly) | |
3 | g.38581328G>T | CA352140631 | SCN5A | c.2831C>A (p.Ala944Glu) c.2702C>A (p.Ala901Glu) | |
3 | g.38581329C>A | CA352140633 | SCN5A | c.2830G>T (p.Ala944Ser) c.2701G>T (p.Ala901Ser) | |
3 | g.38581329C>G | CA352140635 | SCN5A | c.2830G>C (p.Ala944Pro) c.2701G>C (p.Ala901Pro) | |
3 | g.38581329C>T | CA352140637 | SCN5A | c.2830G>A (p.Ala944Thr) c.2701G>A (p.Ala901Thr) | gnomAD v4 |
3 | g.38581330A>C | CA352140639 | SCN5A | c.2829T>G (p.Ser943Arg) c.2700T>G (p.Ser900Arg) | |
3 | g.38581330A>G | CA433332718 | SCN5A | c.2829T>C (p.Ser943=) c.2700T>C (p.Ser900=) | ClinVar dbSNP gnomAD v4 |
3 | g.38581330A>T | CA352140641 | SCN5A | c.2829T>A (p.Ser943Arg) c.2700T>A (p.Ser900Arg) | |
3 | g.38581331C>A | CA352140647 | SCN5A | c.2828G>T (p.Ser943Ile) c.2699G>T (p.Ser900Ile) | |
3 | g.38581331C= | CA1358574621 | SCN5A | c.2828G= (p.Ser943=) c.2699G= (p.Ser900=) | |
3 | g.38581331C>G | CA352140645 | SCN5A | c.2828G>C (p.Ser943Thr) c.2699G>C (p.Ser900Thr) | |
3 | g.38581331C>T | CA352140643 | SCN5A | c.2828G>A (p.Ser943Asn) c.2699G>A (p.Ser900Asn) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38581332T>A | CA352140648 | SCN5A | c.2827A>T (p.Ser943Cys) c.2698A>T (p.Ser900Cys) | |
3 | g.38581332T>C | CA352140650 | SCN5A | c.2827A>G (p.Ser943Gly) c.2698A>G (p.Ser900Gly) | |
3 | g.38581332T>G | CA352140652 | SCN5A | c.2827A>C (p.Ser943Arg) c.2698A>C (p.Ser900Arg) | |
3 | g.38581333G>A | CA060958 | SCN5A | c.2826C>T (p.Phe942=) c.2697C>T (p.Phe899=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38581333G>C | CA352140655 | SCN5A | c.2826C>G (p.Phe942Leu) c.2697C>G (p.Phe899Leu) | |
3 | g.38581333G= | CA1358574623 | SCN5A | c.2826C= (p.Phe942=) c.2697C= (p.Phe899=) | |
3 | g.38581333G>T | CA352140657 | SCN5A | c.2826C>A (p.Phe942Leu) c.2697C>A (p.Phe899Leu) | |
3 | g.38581334A>C | CA352140660 | SCN5A | c.2825T>G (p.Phe942Cys) c.2696T>G (p.Phe899Cys) | |
3 | g.38581334A>G | CA352140661 | SCN5A | c.2825T>C (p.Phe942Ser) c.2696T>C (p.Phe899Ser) | |
3 | g.38581334A>T | CA352140664 | SCN5A | c.2825T>A (p.Phe942Tyr) c.2696T>A (p.Phe899Tyr) | |
3 | g.38581335A>C | CA352140666 | SCN5A | c.2824T>G (p.Phe942Val) c.2695T>G (p.Phe899Val) | |
3 | g.38581335A>G | CA352140669 | SCN5A | c.2824T>C (p.Phe942Leu) c.2695T>C (p.Phe899Leu) | gnomAD v4 |
3 | g.38581335A>T | CA352140671 | SCN5A | c.2824T>A (p.Phe942Ile) c.2695T>A (p.Phe899Ile) | |
3 | g.38581336G>A | CA433332723 | SCN5A | c.2823C>T (p.Ser941=) c.2694C>T (p.Ser898=) | |
3 | g.38581336G>C | CA433332725 | SCN5A | c.2823C>G (p.Ser941=) c.2694C>G (p.Ser898=) | gnomAD v4 |
3 | g.38581336G>T | CA433332726 | SCN5A | c.2823C>A (p.Ser941=) c.2694C>A (p.Ser898=) | |
3 | g.38581337G>A | CA352140676 | SCN5A | c.2822C>T (p.Ser941Phe) c.2693C>T (p.Ser898Phe) | ClinVar |
3 | g.38581337G>C | CA352140678 | SCN5A | c.2822C>G (p.Ser941Cys) c.2693C>G (p.Ser898Cys) | ClinVar dbSNP gnomAD v4 |
3 | g.38581337G= | CA1358574633 | SCN5A | c.2822C= (p.Ser941=) c.2693C= (p.Ser898=) | |
3 | g.38581337G>T | CA352140674 | SCN5A | c.2822C>A (p.Ser941Tyr) c.2693C>A (p.Ser898Tyr) | |
3 | g.38581337_38581338delinsAT | CA2573136282 | SCN5A | c.2821_2822delinsAT (p.Ser941Ile) c.2692_2693delinsAT (p.Ser898Ile) | ClinVar dbSNP |
3 | g.38581337_38581338delinsGA | CA1358574630 | SCN5A | c.2821_2822delinsTC (p.Ser941=) c.2692_2693delinsTC (p.Ser898=) | |
3 | g.38581337_38581338delinsTT | CA016545 | SCN5A | c.2821_2822delinsAA (p.Ser941Asn) c.2692_2693delinsAA (p.Ser898Asn) | ClinVar dbSNP |
3 | g.38581338A>C | CA352140683 | SCN5A | c.2821T>G (p.Ser941Ala) c.2692T>G (p.Ser898Ala) | |
3 | g.38581338A>G | CA352140681 | SCN5A | c.2821T>C (p.Ser941Pro) c.2692T>C (p.Ser898Pro) | |
3 | g.38581338A>T | CA352140685 | SCN5A | c.2821T>A (p.Ser941Thr) c.2692T>A (p.Ser898Thr) | |
3 | g.38581339G>A | CA433332728 | SCN5A | c.2820C>T (p.Ser940=) c.2691C>T (p.Ser897=) | ClinVar dbSNP gnomAD v4 |
3 | g.38581339G>C | CA352140687 | SCN5A | c.2820C>G (p.Ser940Arg) c.2691C>G (p.Ser897Arg) | |
3 | g.38581339G= | CA1358574637 | SCN5A | c.2820C= (p.Ser940=) c.2691C= (p.Ser897=) | |
3 | g.38581339G>T | CA352140689 | SCN5A | c.2820C>A (p.Ser940Arg) c.2691C>A (p.Ser897Arg) | |
3 | g.38581340C>A | CA352140693 | SCN5A | c.2819G>T (p.Ser940Ile) c.2690G>T (p.Ser897Ile) | gnomAD v4 |
3 | g.38581340C= | CA1358574643 | SCN5A | c.2819G= (p.Ser940=) c.2690G= (p.Ser897=) | |
3 | g.38581340C>G | CA352140695 | SCN5A | c.2819G>C (p.Ser940Thr) c.2690G>C (p.Ser897Thr) | dbSNP |
3 | g.38581340C>T | CA72926456 | SCN5A | c.2819G>A (p.Ser940Asn) c.2690G>A (p.Ser897Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38581341T>A | CA352140696 | SCN5A | c.2818A>T (p.Ser940Cys) c.2689A>T (p.Ser897Cys) | |
3 | g.38581341T>C | CA352140700 | SCN5A | c.2818A>G (p.Ser940Gly) c.2689A>G (p.Ser897Gly) | gnomAD v4 |
3 | g.38581341T>G | CA352140698 | SCN5A | c.2818A>C (p.Ser940Arg) c.2689A>C (p.Ser897Arg) | |
3 | g.38581342G>A | CA433332730 | SCN5A | c.2817C>T (p.Leu939=) c.2688C>T (p.Leu896=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38581342G>C | CA060954 | SCN5A | c.2817C>G (p.Leu939=) c.2688C>G (p.Leu896=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38581342G= | CA1358574646 | SCN5A | c.2817C= (p.Leu939=) c.2688C= (p.Leu896=) | |
3 | g.38581342G>T | CA433332731 | SCN5A | c.2817C>A (p.Leu939=) c.2688C>A (p.Leu896=) | |
3 | g.38581343A= | CA1358574649 | SCN5A | c.2816T= (p.Leu939=) c.2687T= (p.Leu896=) | |
3 | g.38581343A>C | CA352140704 | SCN5A | c.2816T>G (p.Leu939Arg) c.2687T>G (p.Leu896Arg) | |
3 | g.38581343A>G | CA352140706 | SCN5A | c.2816T>C (p.Leu939Pro) c.2687T>C (p.Leu896Pro) | ClinVar dbSNP |
3 | g.38581343A>T | CA352140708 | SCN5A | c.2816T>A (p.Leu939His) c.2687T>A (p.Leu896His) | |
3 | g.38581344G>A | CA10616336 | SCN5A | c.2815C>T (p.Leu939Phe) c.2686C>T (p.Leu896Phe) | ClinVar dbSNP gnomAD v4 |
3 | g.38581344G>C | CA352140711 | SCN5A | c.2815C>G (p.Leu939Val) c.2686C>G (p.Leu896Val) | |
3 | g.38581344G= | CA1358574655 | SCN5A | c.2815C= (p.Leu939=) c.2686C= (p.Leu896=) | |
3 | g.38581344G>T | CA352140712 | SCN5A | c.2815C>A (p.Leu939Ile) c.2686C>A (p.Leu896Ile) | |
3 | g.38581345C>A | CA433332734 | SCN5A | c.2814G>T (p.Leu938=) c.2685G>T (p.Leu895=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38581345C= | CA1358574658 | SCN5A | c.2814G= (p.Leu938=) c.2685G= (p.Leu895=) | |
3 | g.38581345C>G | CA433332735 | SCN5A | c.2814G>C (p.Leu938=) c.2685G>C (p.Leu895=) | |
3 | g.38581345C>T | CA433332736 | SCN5A | c.2814G>A (p.Leu938=) c.2685G>A (p.Leu895=) | COSMIC COSMIC COSMIC |
3 | g.38581346A>C | CA352140715 | SCN5A | c.2813T>G (p.Leu938Arg) c.2684T>G (p.Leu895Arg) | |
3 | g.38581346A>G | CA352140717 | SCN5A | c.2813T>C (p.Leu938Pro) c.2684T>C (p.Leu895Pro) | |
3 | g.38581346A>T | CA352140718 | SCN5A | c.2813T>A (p.Leu938Gln) c.2684T>A (p.Leu895Gln) | |
3 | g.38581347G>A | CA433332738 | SCN5A | c.2812C>T (p.Leu938=) c.2683C>T (p.Leu895=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38581347G>C | CA352140720 | SCN5A | c.2812C>G (p.Leu938Val) c.2683C>G (p.Leu895Val) | ClinVar |
3 | g.38581347G= | CA1358574663 | SCN5A | c.2812C= (p.Leu938=) c.2683C= (p.Leu895=) | |
3 | g.38581347G>T | CA352140723 | SCN5A | c.2812C>A (p.Leu938Met) c.2683C>A (p.Leu895Met) | |
3 | g.38581348C>A | CA352140727 | SCN5A | c.2811G>T (p.Leu937Phe) c.2682G>T (p.Leu894Phe) | gnomAD v4 |
3 | g.38581348C>G | CA352140725 | SCN5A | c.2811G>C (p.Leu937Phe) c.2682G>C (p.Leu894Phe) | |
3 | g.38581348C>T | CA433332740 | SCN5A | c.2811G>A (p.Leu937=) c.2682G>A (p.Leu894=) | |
3 | g.38581349A= | CA1358574666 | SCN5A | c.2810T= (p.Leu937=) c.2681T= (p.Leu894=) | |
3 | g.38581349A>C | CA352140729 | SCN5A | c.2810T>G (p.Leu937Trp) c.2681T>G (p.Leu894Trp) | |
3 | g.38581349A>G | CA352140730 | SCN5A | c.2810T>C (p.Leu937Ser) c.2681T>C (p.Leu894Ser) | |
3 | g.38581349A>T | CA352140733 | SCN5A | c.2810T>A (p.Leu937Ter) c.2681T>A (p.Leu894Ter) | dbSNP |
3 | g.38581350A>C | CA352140735 | SCN5A | c.2809T>G (p.Leu937Val) c.2680T>G (p.Leu894Val) | |
3 | g.38581350A>G | CA433332741 | SCN5A | c.2809T>C (p.Leu937=) c.2680T>C (p.Leu894=) | |
3 | g.38581350A>T | CA352140737 | SCN5A | c.2809T>A (p.Leu937Met) c.2680T>A (p.Leu894Met) | |
3 | g.38581351G>A | CA433332743 | SCN5A | c.2808C>T (p.Ala936=) c.2679C>T (p.Ala893=) | gnomAD v4 |
3 | g.38581351G>C | CA433332744 | SCN5A | c.2808C>G (p.Ala936=) c.2679C>G (p.Ala893=) | |
3 | g.38581351G>T | CA433332745 | SCN5A | c.2808C>A (p.Ala936=) c.2679C>A (p.Ala893=) | |
3 | g.38581352G>A | CA352140740 | SCN5A | c.2807C>T (p.Ala936Val) c.2678C>T (p.Ala893Val) | |
3 | g.38581352G>C | CA352140741 | SCN5A | c.2807C>G (p.Ala936Gly) c.2678C>G (p.Ala893Gly) | ClinVar |
3 | g.38581352G>T | CA352140742 | SCN5A | c.2807C>A (p.Ala936Asp) c.2678C>A (p.Ala893Asp) | ClinVar |
3 | g.38581353C>A | CA352140745 | SCN5A | c.2806G>T (p.Ala936Ser) c.2677G>T (p.Ala893Ser) | |
3 | g.38581353C>G | CA352140747 | SCN5A | c.2806G>C (p.Ala936Pro) c.2677G>C (p.Ala893Pro) | |
3 | g.38581353C>T | CA352140749 | SCN5A | c.2806G>A (p.Ala936Thr) c.2677G>A (p.Ala893Thr) | |
3 | g.38581354C>A | CA433332749 | SCN5A | c.2805G>T (p.Leu935=) c.2676G>T (p.Leu892=) | |
3 | g.38581354C= | CA1358574670 | SCN5A | c.2805G= (p.Leu935=) c.2676G= (p.Leu892=) | |
3 | g.38581354C>G | CA433332750 | SCN5A | c.2805G>C (p.Leu935=) c.2676G>C (p.Leu892=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38581354C>T | CA433332751 | SCN5A | c.2805G>A (p.Leu935=) c.2676G>A (p.Leu892=) | gnomAD v4 |
3 | g.38581355A= | CA1358574676 | SCN5A | c.2804T= (p.Leu935=) c.2675T= (p.Leu892=) | |
3 | g.38581355A>C | CA352140754 | SCN5A | c.2804T>G (p.Leu935Arg) c.2675T>G (p.Leu892Arg) | |
3 | g.38581355A>G | CA016529 | SCN5A | c.2804T>C (p.Leu935Pro) c.2675T>C (p.Leu892Pro) | ClinVar dbSNP gnomAD v4 |
3 | g.38581355A>T | CA352140751 | SCN5A | c.2804T>A (p.Leu935Gln) c.2675T>A (p.Leu892Gln) | |
3 | g.38581356G>A | CA433332752 | SCN5A | c.2803C>T (p.Leu935=) c.2674C>T (p.Leu892=) | |
3 | g.38581356G>C | CA352140756 | SCN5A | c.2803C>G (p.Leu935Val) c.2674C>G (p.Leu892Val) | ClinVar |
3 | g.38581356G= | CA1358574679 | SCN5A | c.2803C= (p.Leu935=) c.2674C= (p.Leu892=) | |
3 | g.38581356G>T | CA352140758 | SCN5A | c.2803C>A (p.Leu935Met) c.2674C>A (p.Leu892Met) | dbSNP |
3 | g.38581357G>A | CA433332754 | SCN5A | c.2802C>T (p.Phe934=) c.2673C>T (p.Phe891=) | |
3 | g.38581357G>C | CA352140760 | SCN5A | c.2802C>G (p.Phe934Leu) c.2673C>G (p.Phe891Leu) | |
3 | g.38581357G>T | CA352140761 | SCN5A | c.2802C>A (p.Phe934Leu) c.2673C>A (p.Phe891Leu) | |
3 | g.38581358A>C | CA352140764 | SCN5A | c.2801T>G (p.Phe934Cys) c.2672T>G (p.Phe891Cys) | |
3 | g.38581358A>G | CA352140765 | SCN5A | c.2801T>C (p.Phe934Ser) c.2672T>C (p.Phe891Ser) | ClinVar dbSNP |
3 | g.38581358A>T | CA352140767 | SCN5A | c.2801T>A (p.Phe934Tyr) c.2672T>A (p.Phe891Tyr) | gnomAD v4 |
3 | g.38581359A= | CA1358574681 | SCN5A | c.2800T= (p.Phe934=) c.2671T= (p.Phe891=) | |
3 | g.38581359A>C | CA352140770 | SCN5A | c.2800T>G (p.Phe934Val) c.2671T>G (p.Phe891Val) | |
3 | g.38581359A>G | CA352140771 | SCN5A | c.2800T>C (p.Phe934Leu) c.2671T>C (p.Phe891Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38581359A>T | CA352140774 | SCN5A | c.2800T>A (p.Phe934Ile) c.2671T>A (p.Phe891Ile) | |
3 | g.38581362_38581363del | CA2580614206 | SCN5A | c.2799_2800del (p.Phe934ProfsTer17) c.2670_2671del (p.Phe891ProfsTer17) | ClinVar |
3 | g.38581360G>A | CA72926467 | SCN5A | c.2799C>T (p.Leu933=) c.2670C>T (p.Leu890=) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38581360G>C | CA433332756 | SCN5A | c.2799C>G (p.Leu933=) c.2670C>G (p.Leu890=) | |
3 | g.38581360G= | CA1358574684 | SCN5A | c.2799C= (p.Leu933=) c.2670C= (p.Leu890=) | |
3 | g.38581360G>T | CA433332757 | SCN5A | c.2799C>A (p.Leu933=) c.2670C>A (p.Leu890=) | |
3 | g.38581361A>C | CA352140776 | SCN5A | c.2798T>G (p.Leu933Arg) c.2669T>G (p.Leu890Arg) | |
3 | g.38581361A>G | CA352140778 | SCN5A | c.2798T>C (p.Leu933Pro) c.2669T>C (p.Leu890Pro) | |
3 | g.38581361A>T | CA352140779 | SCN5A | c.2798T>A (p.Leu933His) c.2669T>A (p.Leu890His) | |
3 | g.38581362G>A | CA352140782 | SCN5A | c.2797C>T (p.Leu933Phe) c.2668C>T (p.Leu890Phe) | |
3 | g.38581362G>C | CA352140786 | SCN5A | c.2797C>G (p.Leu933Val) c.2668C>G (p.Leu890Val) | |
3 | g.38581362G>T | CA352140784 | SCN5A | c.2797C>A (p.Leu933Ile) c.2668C>A (p.Leu890Ile) | |
3 | g.38581363A>C | CA352140789 | SCN5A | c.2796T>G (p.Asn932Lys) c.2667T>G (p.Asn889Lys) | ClinVar dbSNP |
3 | g.38581363A>G | CA433332759 | SCN5A | c.2796T>C (p.Asn932=) c.2667T>C (p.Asn889=) | gnomAD v4 |
3 | g.38581363A>T | CA352140790 | SCN5A | c.2796T>A (p.Asn932Lys) c.2667T>A (p.Asn889Lys) | |
3 | g.38581364T>A | CA352140793 | SCN5A | c.2795A>T (p.Asn932Ile) c.2666A>T (p.Asn889Ile) | |
3 | g.38581364T>C | CA352140794 | SCN5A | c.2795A>G (p.Asn932Ser) c.2666A>G (p.Asn889Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38581364T>G | CA352140796 | SCN5A | c.2795A>C (p.Asn932Thr) c.2666A>C (p.Asn889Thr) | |
3 | g.38581364T= | CA1358574688 | SCN5A | c.2795A= (p.Asn932=) c.2666A= (p.Asn889=) | |
3 | g.38581365T>A | CA352140798 | SCN5A | c.2794A>T (p.Asn932Tyr) c.2665A>T (p.Asn889Tyr) | |
3 | g.38581365T>C | CA352140800 | SCN5A | c.2794A>G (p.Asn932Asp) c.2665A>G (p.Asn889Asp) | |
3 | g.38581365T>G | CA352140802 | SCN5A | c.2794A>C (p.Asn932His) c.2665A>C (p.Asn889His) | |
3 | g.38581366C>A | CA433332763 | SCN5A | c.2793G>T (p.Leu931=) c.2664G>T (p.Leu888=) | |
3 | g.38581366C= | CA1358574692 | SCN5A | c.2793G= (p.Leu931=) c.2664G= (p.Leu888=) | |
3 | g.38581366C>G | CA433332762 | SCN5A | c.2793G>C (p.Leu931=) c.2664G>C (p.Leu888=) | |
3 | g.38581366C>T | CA433332761 | SCN5A | c.2793G>A (p.Leu931=) c.2664G>A (p.Leu888=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38581367A>C | CA352140805 | SCN5A | c.2792T>G (p.Leu931Arg) c.2663T>G (p.Leu888Arg) | |
3 | g.38581367A>G | CA352140806 | SCN5A | c.2792T>C (p.Leu931Pro) c.2663T>C (p.Leu888Pro) | gnomAD v4 |
3 | g.38581367A>T | CA352140809 | SCN5A | c.2792T>A (p.Leu931Gln) c.2663T>A (p.Leu888Gln) | |
3 | g.38581368G>A | CA433332764 | SCN5A | c.2791C>T (p.Leu931=) c.2662C>T (p.Leu888=) | COSMIC COSMIC COSMIC |
3 | g.38581368G>C | CA352140813 | SCN5A | c.2791C>G (p.Leu931Val) c.2662C>G (p.Leu888Val) | |
3 | g.38581368G>T | CA352140811 | SCN5A | c.2791C>A (p.Leu931Met) c.2662C>A (p.Leu888Met) | gnomAD v4 |
3 | g.38581369G>A | CA433332765 | SCN5A | c.2790C>T (p.Val930=) c.2661C>T (p.Val887=) | |
3 | g.38581369G>C | CA433332767 | SCN5A | c.2790C>G (p.Val930=) c.2661C>G (p.Val887=) | |
3 | g.38581369G>T | CA433332766 | SCN5A | c.2790C>A (p.Val930=) c.2661C>A (p.Val887=) | |
3 | g.38581370A>C | CA352140816 | SCN5A | c.2789T>G (p.Val930Gly) c.2660T>G (p.Val887Gly) | gnomAD v3 gnomAD v4 |
3 | g.38581370A>G | CA352140820 | SCN5A | c.2789T>C (p.Val930Ala) c.2660T>C (p.Val887Ala) | |
3 | g.38581370A>T | CA352140817 | SCN5A | c.2789T>A (p.Val930Asp) c.2660T>A (p.Val887Asp) | |
3 | g.38581371C>A | CA352140823 | SCN5A | c.2788G>T (p.Val930Phe) c.2659G>T (p.Val887Phe) | gnomAD v4 |
3 | g.38581371C>G | CA352140825 | SCN5A | c.2788G>C (p.Val930Leu) c.2659G>C (p.Val887Leu) | |
3 | g.38581371C>T | CA352140827 | SCN5A | c.2788G>A (p.Val930Ile) c.2659G>A (p.Val887Ile) | |
3 | g.38581372C>A | CA352140829 | SCN5A | c.2788-1G>T (n.2788-1G>T) c.2659-1G>T (n.2659-1G>T) | gnomAD v4 |
3 | g.38581372C>G | CA352140831 | SCN5A | c.2788-1G>C (n.2788-1G>C) c.2659-1G>C (n.2659-1G>C) | gnomAD v4 |
3 | g.38581372C>T | CA352140833 | SCN5A | c.2788-1G>A (n.2788-1G>A) c.2659-1G>A (n.2659-1G>A) | |
3 | g.38581372_38581373insACAAGGTTGCCAA | CA1047004071 | SCN5A | c.2788-2_2788-1insTTGGCAACCTTGT (n.2788-2_2788-1insTTGGCAACCTTGT) c.2659-2_2659-1insTTGGCAACCTTGT (n.2659-2_2659-1insTTGGCAACCTTGT) | gnomAD v3 gnomAD v4 |
3 | g.38581373del | CA2580069768 | SCN5A | c.2788-2del (n.2788-2del) c.2659-2del (n.2659-2del) | ClinVar |
3 | g.38581373T>A | CA352140835 | SCN5A | c.2788-2A>T (n.2788-2A>T) c.2659-2A>T (n.2659-2A>T) | |
3 | g.38581373T>C | CA016509 | SCN5A | c.2788-2A>G (n.2788-2A>G) c.2659-2A>G (n.2659-2A>G) | ClinVar dbSNP gnomAD v4 |
3 | g.38581373T>G | CA352140838 | SCN5A | c.2788-2A>C (n.2788-2A>C) c.2659-2A>C (n.2659-2A>C) | |
3 | g.38581373T= | CA1358574697 | SCN5A | c.2788-2A= (n.2788-2A=) c.2659-2A= (n.2659-2A=) | |
3 | g.38581374G>A | CA2577676436 | SCN5A | c.2788-3C>T (n.2788-3C>T) c.2659-3C>T (n.2659-3C>T) | gnomAD v4 |
3 | g.38581375T>C | CA2586972022 | SCN5A | c.2788-4A>G (n.2788-4A>G) c.2659-4A>G (n.2659-4A>G) | gnomAD v4 |
3 | g.38581376C>A | CA2665113036 | SCN5A | c.2788-5G>T (n.2788-5G>T) c.2659-5G>T (n.2659-5G>T) | gnomAD v4 |
3 | g.38581376C= | CA1358574701 | SCN5A | c.2788-5G= (n.2788-5G=) c.2659-5G= (n.2659-5G=) | |
3 | g.38581376C>T | CA060944 | SCN5A | c.2788-5G>A (n.2788-5G>A) c.2659-5G>A (n.2659-5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38581377G>A | CA016515 | SCN5A | c.2788-6C>T (n.2788-6C>T) c.2659-6C>T (n.2659-6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38581377G>C | CA913188097 | SCN5A | c.2788-6C>G (n.2788-6C>G) c.2659-6C>G (n.2659-6C>G) | ClinVar dbSNP gnomAD v4 |
3 | g.38581377G= | CA1358574713 | SCN5A | c.2788-6C= (n.2788-6C=) c.2659-6C= (n.2659-6C=) | |
3 | g.38581377G>T | CA913188096 | SCN5A | c.2788-6C>A (n.2788-6C>A) c.2659-6C>A (n.2659-6C>A) | ClinVar dbSNP |
3 | g.38581379G>A | CA2573136284 | SCN5A | c.2788-8C>T (n.2788-8C>T) c.2659-8C>T (n.2659-8C>T) | ClinVar dbSNP |
3 | g.38581380dup | CA2665113037 | SCN5A | c.2788-9dup (n.2788-9dup) c.2659-9dup (n.2659-9dup) | gnomAD v4 |
3 | g.38581381T>A | CA060908 | SCN5A | c.2788-10A>T (n.2788-10A>T) c.2659-10A>T (n.2659-10A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38581381T= | CA1358574716 | SCN5A | c.2788-10A= (n.2788-10A=) c.2659-10A= (n.2659-10A=) |