Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38609791_38609799dup | CA542273805 | SCN5A | c.871_879dup (p.Ser293_Val294insAsnGlySer) c.742_750dup (p.Ser250_Val251insAsnGlySer) | dbSNP gnomAD v2 |
3 | g.38609791_38609800delinsAGCCGTTGGT | CA1358587654 | SCN5A | c.868_877delinsACCAACGGCT (p.Thr290=) c.739_748delinsACCAACGGCT (p.Thr247=) | |
3 | g.38609799_38609807del | CA065792 | SCN5A | c.868_876del (p.Thr290_Gly292del) c.739_747del (p.Thr247_Gly249del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38609797T>A | CA352150450 | SCN5A | c.871A>T (p.Asn291Tyr) c.742A>T (p.Asn248Tyr) | |
3 | g.38609797T>C | CA352150451 | SCN5A | c.871A>G (p.Asn291Asp) c.742A>G (p.Asn248Asp) | |
3 | g.38609797T>G | CA019880 | SCN5A | c.871A>C (p.Asn291His) c.742A>C (p.Asn248His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38609797T= | CA1358587659 | SCN5A | c.871A= (p.Asn291=) c.742A= (p.Asn248=) | |
3 | g.38609798G>A | CA433138291 | SCN5A | c.870C>T (p.Thr290=) c.741C>T (p.Thr247=) | gnomAD v4 |
3 | g.38609798G>C | CA433138292 | SCN5A | c.870C>G (p.Thr290=) c.741C>G (p.Thr247=) | |
3 | g.38609798G>T | CA433138293 | SCN5A | c.870C>A (p.Thr290=) c.741C>A (p.Thr247=) | |
3 | g.38609799del | CA2586971917 | SCN5A | c.870del (p.Asn291ThrfsTer?) c.741del (p.Asn248ThrfsTer?) | |
3 | g.38609799G>A | CA352150454 | SCN5A | c.869C>T (p.Thr290Ile) c.740C>T (p.Thr247Ile) | |
3 | g.38609799G>C | CA352150456 | SCN5A | c.869C>G (p.Thr290Ser) c.740C>G (p.Thr247Ser) | |
3 | g.38609799G= | CA1358587660 | SCN5A | c.869C= (p.Thr290=) c.740C= (p.Thr247=) | |
3 | g.38609799G>T | CA352150457 | SCN5A | c.869C>A (p.Thr290Asn) c.740C>A (p.Thr247Asn) | ClinVar dbSNP |
3 | g.38609800T>A | CA352150460 | SCN5A | c.868A>T (p.Thr290Ser) c.739A>T (p.Thr247Ser) | |
3 | g.38609800T>C | CA352150462 | SCN5A | c.868A>G (p.Thr290Ala) c.739A>G (p.Thr247Ala) | |
3 | g.38609800T>G | CA352150463 | SCN5A | c.868A>C (p.Thr290Pro) c.739A>C (p.Thr247Pro) | gnomAD v4 |
3 | g.38609801G>A | CA433138294 | SCN5A | c.867C>T (p.Gly289=) c.738C>T (p.Gly246=) | |
3 | g.38609801G>C | CA433138295 | SCN5A | c.867C>G (p.Gly289=) c.738C>G (p.Gly246=) | |
3 | g.38609801G>T | CA433138296 | SCN5A | c.867C>A (p.Gly289=) c.738C>A (p.Gly246=) | |
3 | g.38609802C>A | CA352150466 | SCN5A | c.866G>T (p.Gly289Val) c.737G>T (p.Gly246Val) | |
3 | g.38609802C>G | CA352150467 | SCN5A | c.866G>C (p.Gly289Ala) c.737G>C (p.Gly246Ala) | |
3 | g.38609802C>T | CA352150469 | SCN5A | c.866G>A (p.Gly289Asp) c.737G>A (p.Gly246Asp) | gnomAD v4 |
3 | g.38609803C>A | CA352150471 | SCN5A | c.865G>T (p.Gly289Cys) c.736G>T (p.Gly246Cys) | |
3 | g.38609803C= | CA1358587661 | SCN5A | c.865G= (p.Gly289=) c.736G= (p.Gly246=) | |
3 | g.38609803C>G | CA352150473 | SCN5A | c.865G>C (p.Gly289Arg) c.736G>C (p.Gly246Arg) | dbSNP gnomAD v4 |
3 | g.38609803C>T | CA019867 | SCN5A | c.865G>A (p.Gly289Ser) c.736G>A (p.Gly246Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38609804G>A | CA065783 | SCN5A | c.864C>T (p.Asn288=) c.735C>T (p.Asn245=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38609804G>C | CA352150477 | SCN5A | c.864C>G (p.Asn288Lys) c.735C>G (p.Asn245Lys) | ClinVar gnomAD v4 |
3 | g.38609804G= | CA1358587662 | SCN5A | c.864C= (p.Asn288=) c.735C= (p.Asn245=) | |
3 | g.38609804G>T | CA352150475 | SCN5A | c.864C>A (p.Asn288Lys) c.735C>A (p.Asn245Lys) | gnomAD v4 |
3 | g.38609805T>A | CA352150479 | SCN5A | c.863A>T (p.Asn288Ile) c.734A>T (p.Asn245Ile) | |
3 | g.38609805T>C | CA065779 | SCN5A | c.863A>G (p.Asn288Ser) c.734A>G (p.Asn245Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38609805T>G | CA352150481 | SCN5A | c.863A>C (p.Asn288Thr) c.734A>C (p.Asn245Thr) | |
3 | g.38609805T= | CA1358587663 | SCN5A | c.863A= (p.Asn288=) c.734A= (p.Asn245=) | |
3 | g.38609806T>A | CA352150484 | SCN5A | c.862A>T (p.Asn288Tyr) c.733A>T (p.Asn245Tyr) | |
3 | g.38609806T>C | CA352150485 | SCN5A | c.862A>G (p.Asn288Asp) c.733A>G (p.Asn245Asp) | |
3 | g.38609806T>G | CA352150486 | SCN5A | c.862A>C (p.Asn288His) c.733A>C (p.Asn245His) | |
3 | g.38609807G>A | CA433138297 | SCN5A | c.861C>T (p.Leu287=) c.732C>T (p.Leu244=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38609807G>C | CA433138298 | SCN5A | c.861C>G (p.Leu287=) c.732C>G (p.Leu244=) | gnomAD v4 |
3 | g.38609807G= | CA1358587664 | SCN5A | c.861C= (p.Leu287=) c.732C= (p.Leu244=) | |
3 | g.38609807G>T | CA433138299 | SCN5A | c.861C>A (p.Leu287=) c.732C>A (p.Leu244=) | |
3 | g.38609808A>C | CA352150487 | SCN5A | c.860T>G (p.Leu287Arg) c.731T>G (p.Leu244Arg) | |
3 | g.38609808A>G | CA352150490 | SCN5A | c.860T>C (p.Leu287Pro) c.731T>C (p.Leu244Pro) | |
3 | g.38609808A>T | CA352150488 | SCN5A | c.860T>A (p.Leu287His) c.731T>A (p.Leu244His) | |
3 | g.38609809G>A | CA352150493 | SCN5A | c.859C>T (p.Leu287Phe) c.730C>T (p.Leu244Phe) | |
3 | g.38609809G>C | CA352150494 | SCN5A | c.859C>G (p.Leu287Val) c.730C>G (p.Leu244Val) | |
3 | g.38609809G>T | CA352150496 | SCN5A | c.859C>A (p.Leu287Ile) c.730C>A (p.Leu244Ile) | |
3 | g.38609810C>A | CA433138300 | SCN5A | c.858G>T (p.Ala286=) c.729G>T (p.Ala243=) | ClinVar dbSNP |