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.38613752C>A | CA352151476 | SCN5A | c.694G>T (p.Val232Phe) c.703+223G>T (n.703+223G>T) c.565G>T (p.Val189Phe) | |
| 3 | g.38613752C= | CA1358589357 | SCN5A | c.694G= (p.Val232=) c.703+223G= (n.703+223G=) c.565G= (p.Val189=) | |
| 3 | g.38613752C>G | CA352151473 | SCN5A | c.694G>C (p.Val232Leu) c.703+223G>C (n.703+223G>C) c.565G>C (p.Val189Leu) | |
| 3 | g.38613752C>T | CA019745 | SCN5A | c.694G>A (p.Val232Ile) c.703+223G>A (n.703+223G>A) c.565G>A (p.Val189Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38613753T>A | CA2665116266 | SCN5A | c.693A>T (p.Ser231=) c.703+222A>T (n.703+222A>T) c.564A>T (p.Ser188=) | gnomAD v4 |
| 3 | g.38613753T>G | CA2577553627 | SCN5A | c.693A>C (p.Ser231=) c.703+222A>C (n.703+222A>C) c.564A>C (p.Ser188=) | |
| 3 | g.38613753_38613754del | CA2586971922 | SCN5A | c.692_693del (p.Ser231CysfsTer21) c.703+221_703+222del (n.703+221_703+222del) c.563_564del (p.Ser188CysfsTer21) | |
| 3 | g.38613754G>A | CA352151478 | SCN5A | c.692C>T (p.Ser231Leu) c.703+221C>T (n.703+221C>T) c.563C>T (p.Ser188Leu) | |
| 3 | g.38613754G>C | CA352151480 | SCN5A | c.692C>G (p.Ser231Ter) c.703+221C>G (n.703+221C>G) c.563C>G (p.Ser188Ter) | gnomAD v4 |
| 3 | g.38613754G>T | CA352151481 | SCN5A | c.692C>A (p.Ser231Ter) c.703+221C>A (n.703+221C>A) c.563C>A (p.Ser188Ter) | gnomAD v4 |
| 3 | g.38613755A>C | CA352151482 | SCN5A | c.691T>G (p.Ser231Ala) c.703+220T>G (n.703+220T>G) c.562T>G (p.Ser188Ala) | |
| 3 | g.38613755A>G | CA352151483 | SCN5A | c.691T>C (p.Ser231Pro) c.703+220T>C (n.703+220T>C) c.562T>C (p.Ser188Pro) | gnomAD v4 |
| 3 | g.38613755A>T | CA352151485 | SCN5A | c.691T>A (p.Ser231Thr) c.703+220T>A (n.703+220T>A) c.562T>A (p.Ser188Thr) | |
| 3 | g.38613756T>C | CA352151486 | SCN5A | c.690A>G (p.Ile230Met) c.703+219A>G (n.703+219A>G) c.561A>G (p.Ile187Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38613756T>G | CA2570024354 | SCN5A | c.690A>C (p.Ile230=) c.703+219A>C (n.703+219A>C) c.561A>C (p.Ile187=) | |
| 3 | g.38613756T= | CA1358589358 | SCN5A | c.690A= (p.Ile230=) c.703+219A= (n.703+219A=) c.561A= (p.Ile187=) | |
| 3 | g.38613757A= | CA1358589359 | SCN5A | c.689T= (p.Ile230=) c.703+218T= (n.703+218T=) c.560T= (p.Ile187=) | |
| 3 | g.38613757A>C | CA352151488 | SCN5A | c.689T>G (p.Ile230Arg) c.703+218T>G (n.703+218T>G) c.560T>G (p.Ile187Arg) | |
| 3 | g.38613757A>G | CA019740 | SCN5A | c.689T>C (p.Ile230Thr) c.703+218T>C (n.703+218T>C) c.560T>C (p.Ile187Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38613757A>T | CA352151490 | SCN5A | c.689T>A (p.Ile230Lys) c.703+218T>A (n.703+218T>A) c.560T>A (p.Ile187Lys) | |
| 3 | g.38613758T>A | CA352151495 | SCN5A | c.688A>T (p.Ile230Leu) c.703+217A>T (n.703+217A>T) c.559A>T (p.Ile187Leu) | |
| 3 | g.38613758T>C | CA019734 | SCN5A | c.688A>G (p.Ile230Val) c.703+217A>G (n.703+217A>G) c.559A>G (p.Ile187Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38613758T>G | CA352151493 | SCN5A | c.688A>C (p.Ile230Leu) c.703+217A>C (n.703+217A>C) c.559A>C (p.Ile187Leu) | |
| 3 | g.38613758T= | CA1358589360 | SCN5A | c.688A= (p.Ile230=) c.703+217A= (n.703+217A=) c.559A= (p.Ile187=) | |
| 3 | g.38613759A= | CA1358589361 | SCN5A | c.687T= (p.Thr229=) c.703+216T= (n.703+216T=) c.558T= (p.Thr186=) | |
| 3 | g.38613759A>G | CA065526 | SCN5A | c.687T>C (p.Thr229=) c.703+216T>C (n.703+216T>C) c.558T>C (p.Thr186=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38613759A>T | CA2540259858 | SCN5A | c.687T>A (p.Thr229=) c.703+216T>A (n.703+216T>A) c.558T>A (p.Thr186=) | |
| 3 | g.38613760G>A | CA352151498 | SCN5A | c.686C>T (p.Thr229Ile) c.703+215C>T (n.703+215C>T) c.557C>T (p.Thr186Ile) | |
| 3 | g.38613760G>C | CA352151499 | SCN5A | c.686C>G (p.Thr229Ser) c.703+215C>G (n.703+215C>G) c.557C>G (p.Thr186Ser) | ClinVar dbSNP |
| 3 | g.38613760G= | CA1358589362 | SCN5A | c.686C= (p.Thr229=) c.703+215C= (n.703+215C=) c.557C= (p.Thr186=) | |
| 3 | g.38613760G>T | CA352151501 | SCN5A | c.686C>A (p.Thr229Asn) c.703+215C>A (n.703+215C>A) c.557C>A (p.Thr186Asn) | gnomAD v4 |
| 3 | g.38613761T>A | CA352151503 | SCN5A | c.685A>T (p.Thr229Ser) c.703+214A>T (n.703+214A>T) c.556A>T (p.Thr186Ser) | gnomAD v4 |
| 3 | g.38613761T>C | CA352151505 | SCN5A | c.685A>G (p.Thr229Ala) c.703+214A>G (n.703+214A>G) c.556A>G (p.Thr186Ala) | |
| 3 | g.38613761T>G | CA352151506 | SCN5A | c.685A>C (p.Thr229Pro) c.703+214A>C (n.703+214A>C) c.556A>C (p.Thr186Pro) | |
| 3 | g.38613762T>A | CA352151508 | SCN5A | c.684A>T (p.Lys228Asn) c.703+213A>T (n.703+213A>T) c.555A>T (p.Lys185Asn) | |
| 3 | g.38613762T>G | CA352151509 | SCN5A | c.684A>C (p.Lys228Asn) c.703+213A>C (n.703+213A>C) c.555A>C (p.Lys185Asn) | COSMIC COSMIC |
| 3 | g.38613763T>A | CA352151511 | SCN5A | c.683A>T (p.Lys228Ile) c.703+212A>T (n.703+212A>T) c.554A>T (p.Lys185Ile) | |
| 3 | g.38613763T>C | CA352151513 | SCN5A | c.683A>G (p.Lys228Arg) c.703+212A>G (n.703+212A>G) c.554A>G (p.Lys185Arg) | |
| 3 | g.38613763T>G | CA352151514 | SCN5A | c.683A>C (p.Lys228Thr) c.703+212A>C (n.703+212A>C) c.554A>C (p.Lys185Thr) | |
| 3 | g.38613764T>A | CA352151517 | SCN5A | c.682A>T (p.Lys228Ter) c.703+211A>T (n.703+211A>T) c.553A>T (p.Lys185Ter) | |
| 3 | g.38613764T>C | CA352151519 | SCN5A | c.682A>G (p.Lys228Glu) c.703+211A>G (n.703+211A>G) c.553A>G (p.Lys185Glu) | |
| 3 | g.38613764T>G | CA352151515 | SCN5A | c.682A>C (p.Lys228Gln) c.703+211A>C (n.703+211A>C) c.553A>C (p.Lys185Gln) | |
| 3 | g.38613765del | CA645519441 | SCN5A | c.681del (p.Thr229LeufsTer8) c.703+210del (n.703+210del) c.552del (p.Thr186LeufsTer8) | COSMIC COSMIC |
| 3 | g.38613765C= | CA1358589363 | SCN5A | c.681G= (p.Leu227=) c.703+210G= (n.703+210G=) c.552G= (p.Leu184=) | |
| 3 | g.38613765C>T | CA065523 | SCN5A | c.681G>A (p.Leu227=) c.703+210G>A (n.703+210G>A) c.552G>A (p.Leu184=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38613766A= | CA1358589364 | SCN5A | c.680T= (p.Leu227=) c.703+209T= (n.703+209T=) c.551T= (p.Leu184=) | |
| 3 | g.38613766A>C | CA352151522 | SCN5A | c.680T>G (p.Leu227Arg) c.703+209T>G (n.703+209T>G) c.551T>G (p.Leu184Arg) | |
| 3 | g.38613766A>G | CA019728 | SCN5A | c.680T>C (p.Leu227Pro) c.703+209T>C (n.703+209T>C) c.551T>C (p.Leu184Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38613766A>T | CA352151524 | SCN5A | c.680T>A (p.Leu227Gln) c.703+209T>A (n.703+209T>A) c.551T>A (p.Leu184Gln) | |
| 3 | g.38613767G>C | CA352151525 | SCN5A | c.679C>G (p.Leu227Val) c.703+208C>G (n.703+208C>G) c.550C>G (p.Leu184Val) | |
| 3 | g.38613767G>T | CA352151526 | SCN5A | c.679C>A (p.Leu227Met) c.703+208C>A (n.703+208C>A) c.550C>A (p.Leu184Met) | gnomAD v4 |
| 3 | g.38613768G>A | CA2665116267 | SCN5A | c.678C>T (p.Ala226=) c.703+207C>T (n.703+207C>T) c.549C>T (p.Ala183=) | ClinVar gnomAD v4 |
| 3 | g.38613768G>C | CA2550955374 | SCN5A | c.678C>G (p.Ala226=) c.703+207C>G (n.703+207C>G) c.549C>G (p.Ala183=) | |
| 3 | g.38613768G>T | CA2665116268 | SCN5A | c.678C>A (p.Ala226=) c.703+207C>A (n.703+207C>A) c.549C>A (p.Ala183=) | gnomAD v4 |
| 3 | g.38613769G>A | CA019724 | SCN5A | c.677C>T (p.Ala226Val) c.703+206C>T (n.703+206C>T) c.548C>T (p.Ala183Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38613769G>C | CA352151529 | SCN5A | c.677C>G (p.Ala226Gly) c.703+206C>G (n.703+206C>G) c.548C>G (p.Ala183Gly) | |
| 3 | g.38613769G= | CA1358589365 | SCN5A | c.677C= (p.Ala226=) c.703+206C= (n.703+206C=) c.548C= (p.Ala183=) | |
| 3 | g.38613769G>T | CA352151530 | SCN5A | c.677C>A (p.Ala226Asp) c.703+206C>A (n.703+206C>A) c.548C>A (p.Ala183Asp) | ClinVar dbSNP |
| 3 | g.38613770C>A | CA352151531 | SCN5A | c.676G>T (p.Ala226Ser) c.703+205G>T (n.703+205G>T) c.547G>T (p.Ala183Ser) | gnomAD v4 |
| 3 | g.38613770C= | CA1358589366 | SCN5A | c.676G= (p.Ala226=) c.703+205G= (n.703+205G=) c.547G= (p.Ala183=) | |
| 3 | g.38613770C>G | CA352151532 | SCN5A | c.676G>C (p.Ala226Pro) c.703+205G>C (n.703+205G>C) c.547G>C (p.Ala183Pro) | |
| 3 | g.38613770C>T | CA352151534 | SCN5A | c.676G>A (p.Ala226Thr) c.703+205G>A (n.703+205G>A) c.547G>A (p.Ala183Thr) | dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.38613771C>A | CA2577553628 | SCN5A | c.675G>T (p.Arg225=) c.703+204G>T (n.703+204G>T) c.546G>T (p.Arg182=) | |
| 3 | g.38613771C>T | CA2665116269 | SCN5A | c.675G>A (p.Arg225=) c.703+204G>A (n.703+204G>A) c.546G>A (p.Arg182=) | gnomAD v4 |
| 3 | g.38613772C>A | CA352151536 | SCN5A | c.674G>T (p.Arg225Leu) c.703+203G>T (n.703+203G>T) c.545G>T (p.Arg182Leu) | COSMIC COSMIC |
| 3 | g.38613772C= | CA1358589367 | SCN5A | c.674G= (p.Arg225=) c.703+203G= (n.703+203G=) c.545G= (p.Arg182=) | |
| 3 | g.38613772C>G | CA352151537 | SCN5A | c.674G>C (p.Arg225Pro) c.703+203G>C (n.703+203G>C) c.545G>C (p.Arg182Pro) | ClinVar |
| 3 | g.38613772C>T | CA019719 | SCN5A | c.674G>A (p.Arg225Gln) c.703+203G>A (n.703+203G>A) c.545G>A (p.Arg182Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.38613773G>A | CA019714 | SCN5A | c.673C>T (p.Arg225Trp) c.703+202C>T (n.703+202C>T) c.544C>T (p.Arg182Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.38613773G>C | CA352151540 | SCN5A | c.673C>G (p.Arg225Gly) c.703+202C>G (n.703+202C>G) c.544C>G (p.Arg182Gly) | |
| 3 | g.38613773G= | CA1358589368 | SCN5A | c.673C= (p.Arg225=) c.703+202C= (n.703+202C=) c.544C= (p.Arg182=) | |
| 3 | g.38613773G>T | CA2577553629 | SCN5A | c.673C>A (p.Arg225=) c.703+202C>A (n.703+202C>A) c.544C>A (p.Arg182=) | |
| 3 | g.38613774G>C | CA2536395364 | SCN5A | c.672C>G (p.Leu224=) c.703+201C>G (n.703+201C>G) c.543C>G (p.Leu181=) | |
| 3 | g.38613775A>C | CA352151542 | SCN5A | c.671T>G (p.Leu224Arg) c.703+200T>G (n.703+200T>G) c.542T>G (p.Leu181Arg) | |
| 3 | g.38613775A>G | CA352151544 | SCN5A | c.671T>C (p.Leu224Pro) c.703+200T>C (n.703+200T>C) c.542T>C (p.Leu181Pro) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38613775A>T | CA352151545 | SCN5A | c.671T>A (p.Leu224His) c.703+200T>A (n.703+200T>A) c.542T>A (p.Leu181His) | |
| 3 | g.38613776G>A | CA352151550 | SCN5A | c.670C>T (p.Leu224Phe) c.703+199C>T (n.703+199C>T) c.541C>T (p.Leu181Phe) | dbSNP gnomAD v4 |
| 3 | g.38613776G>C | CA352151548 | SCN5A | c.670C>G (p.Leu224Val) c.703+199C>G (n.703+199C>G) c.541C>G (p.Leu181Val) | |
| 3 | g.38613776G= | CA1358589369 | SCN5A | c.670C= (p.Leu224=) c.703+199C= (n.703+199C=) c.541C= (p.Leu181=) | |
| 3 | g.38613776G>T | CA352151546 | SCN5A | c.670C>A (p.Leu224Ile) c.703+199C>A (n.703+199C>A) c.541C>A (p.Leu181Ile) | |
| 3 | g.38613777G>A | CA2580069759 | SCN5A | c.669C>T (p.Val223=) c.703+198C>T (n.703+198C>T) c.540C>T (p.Val180=) | ClinVar |
| 3 | g.38613777G>T | CA2545675836 | SCN5A | c.669C>A (p.Val223=) c.703+198C>A (n.703+198C>A) c.540C>A (p.Val180=) | gnomAD v4 |
| 3 | g.38613778A>C | CA352151552 | SCN5A | c.668T>G (p.Val223Gly) c.703+197T>G (n.703+197T>G) c.539T>G (p.Val180Gly) | |
| 3 | g.38613778A>G | CA352151553 | SCN5A | c.668T>C (p.Val223Ala) c.703+197T>C (n.703+197T>C) c.539T>C (p.Val180Ala) | |
| 3 | g.38613778A>T | CA352151555 | SCN5A | c.668T>A (p.Val223Asp) c.703+197T>A (n.703+197T>A) c.539T>A (p.Val180Asp) | |
| 3 | g.38613779C>A | CA352151557 | SCN5A | c.667G>T (p.Val223Phe) c.703+196G>T (n.703+196G>T) c.538G>T (p.Val180Phe) | gnomAD v4 |
| 3 | g.38613779C= | CA1358589370 | SCN5A | c.667G= (p.Val223=) c.703+196G= (n.703+196G=) c.538G= (p.Val180=) | |
| 3 | g.38613779C>G | CA019709 | SCN5A | c.667G>C (p.Val223Leu) c.703+196G>C (n.703+196G>C) c.538G>C (p.Val180Leu) | ClinVar dbSNP |
| 3 | g.38613779C>T | CA352151559 | SCN5A | c.667G>A (p.Val223Ile) c.703+196G>A (n.703+196G>A) c.538G>A (p.Val180Ile) | |
| 3 | g.38613780T>C | CA065487 | SCN5A | c.666A>G (p.Arg222=) c.703+195A>G (n.703+195A>G) c.537A>G (p.Arg179=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38613780T= | CA1358589371 | SCN5A | c.666A= (p.Arg222=) c.703+195A= (n.703+195A=) c.537A= (p.Arg179=) | |
| 3 | g.38613781C>A | CA352151562 | SCN5A | c.665G>T (p.Arg222Leu) c.703+194G>T (n.703+194G>T) c.536G>T (p.Arg179Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38613781C= | CA1358589372 | SCN5A | c.665G= (p.Arg222=) c.703+194G= (n.703+194G=) c.536G= (p.Arg179=) | |
| 3 | g.38613781C>G | CA352151564 | SCN5A | c.665G>C (p.Arg222Pro) c.703+194G>C (n.703+194G>C) c.536G>C (p.Arg179Pro) | |
| 3 | g.38613781C>T | CA019704 | SCN5A | c.665G>A (p.Arg222Gln) c.703+194G>A (n.703+194G>A) c.536G>A (p.Arg179Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38613781_38613782delinsTA | CA2586971923 | SCN5A | c.664_665delinsTA (p.Arg222Ter) c.703+193_703+194delinsTA (n.703+193_703+194delinsTA) c.535_536delinsTA (p.Arg179Ter) | |
| 3 | g.38613782G>A | CA019700 | SCN5A | c.664C>T (p.Arg222Ter) c.703+193C>T (n.703+193C>T) c.535C>T (p.Arg179Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.38613782G>C | CA019695 | SCN5A | c.664C>G (p.Arg222Gly) c.703+193C>G (n.703+193C>G) c.535C>G (p.Arg179Gly) | ClinVar dbSNP |
| 3 | g.38613782G= | CA1358589373 | SCN5A | c.664C= (p.Arg222=) c.703+193C= (n.703+193C=) c.535C= (p.Arg179=) | |
| 3 | g.38613782G>T | CA2570203289 | SCN5A | c.664C>A (p.Arg222=) c.703+193C>A (n.703+193C>A) c.535C>A (p.Arg179=) | |
| 3 | g.38613783G>A | CA645519442 | SCN5A | c.663C>T (p.Phe221=) c.703+192C>T (n.703+192C>T) c.534C>T (p.Phe178=) | gnomAD v4 COSMIC COSMIC |
| 3 | g.38613783G>C | CA352151569 | SCN5A | c.663C>G (p.Phe221Leu) c.703+192C>G (n.703+192C>G) c.534C>G (p.Phe178Leu) | |
| 3 | g.38613783G>T | CA352151568 | SCN5A | c.663C>A (p.Phe221Leu) c.703+192C>A (n.703+192C>A) c.534C>A (p.Phe178Leu) | |
| 3 | g.38613784A>C | CA352151571 | SCN5A | c.662T>G (p.Phe221Cys) c.703+191T>G (n.703+191T>G) c.533T>G (p.Phe178Cys) | gnomAD v4 |
| 3 | g.38613784A>G | CA352151573 | SCN5A | c.662T>C (p.Phe221Ser) c.703+191T>C (n.703+191T>C) c.533T>C (p.Phe178Ser) | |
| 3 | g.38613784A>T | CA352151575 | SCN5A | c.662T>A (p.Phe221Tyr) c.703+191T>A (n.703+191T>A) c.533T>A (p.Phe178Tyr) | |
| 3 | g.38613785A>C | CA352151577 | SCN5A | c.661T>G (p.Phe221Val) c.703+190T>G (n.703+190T>G) c.532T>G (p.Phe178Val) | ClinVar |
| 3 | g.38613785A>G | CA352151578 | SCN5A | c.661T>C (p.Phe221Leu) c.703+190T>C (n.703+190T>C) c.532T>C (p.Phe178Leu) | |
| 3 | g.38613785A>T | CA352151580 | SCN5A | c.661T>A (p.Phe221Ile) c.703+190T>A (n.703+190T>A) c.532T>A (p.Phe178Ile) | |
| 3 | g.38613786G>C | CA2527546116 | SCN5A | c.660C>G (p.Thr220=) c.703+189C>G (n.703+189C>G) c.531C>G (p.Thr177=) | |
| 3 | g.38613787G>A | CA019690 | SCN5A | c.659C>T (p.Thr220Ile) c.703+188C>T (n.703+188C>T) c.530C>T (p.Thr177Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38613787G>C | CA352151583 | SCN5A | c.659C>G (p.Thr220Ser) c.703+188C>G (n.703+188C>G) c.530C>G (p.Thr177Ser) | gnomAD v4 COSMIC |
| 3 | g.38613787G= | CA1358589374 | SCN5A | c.659C= (p.Thr220=) c.703+188C= (n.703+188C=) c.530C= (p.Thr177=) | |
| 3 | g.38613787G>T | CA352151584 | SCN5A | c.659C>A (p.Thr220Asn) c.703+188C>A (n.703+188C>A) c.530C>A (p.Thr177Asn) | |
| 3 | g.38613788T>A | CA352151585 | SCN5A | c.658A>T (p.Thr220Ser) c.703+187A>T (n.703+187A>T) c.529A>T (p.Thr177Ser) | |
| 3 | g.38613788T>C | CA352151586 | SCN5A | c.658A>G (p.Thr220Ala) c.703+187A>G (n.703+187A>G) c.529A>G (p.Thr177Ala) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38613788T>G | CA352151588 | SCN5A | c.658A>C (p.Thr220Pro) c.703+187A>C (n.703+187A>C) c.529A>C (p.Thr177Pro) | |
| 3 | g.38613789G>A | CA433138702 | SCN5A | c.657C>T (p.Arg219=) c.703+186C>T (n.703+186C>T) c.528C>T (p.Arg176=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38613789G= | CA1358589375 | SCN5A | c.657C= (p.Arg219=) c.703+186C= (n.703+186C=) c.528C= (p.Arg176=) | |
| 3 | g.38613789G>T | CA2542471745 | SCN5A | c.657C>A (p.Arg219=) c.703+186C>A (n.703+186C>A) c.528C>A (p.Arg176=) | |
| 3 | g.38613789_38613790insTGAAT | CA2586971924 | SCN5A | c.656_657insATTCA (p.Thr220PhefsTer10) c.703+185_703+186insATTCA (n.703+185_703+186insATTCA) c.527_528insATTCA (p.Thr177PhefsTer10) | |
| 3 | g.38613790C>A | CA352151591 | SCN5A | c.656G>T (p.Arg219Leu) c.703+185G>T (n.703+185G>T) c.527G>T (p.Arg176Leu) | |
| 3 | g.38613790C= | CA1358589376 | SCN5A | c.656G= (p.Arg219=) c.703+185G= (n.703+185G=) c.527G= (p.Arg176=) | |
| 3 | g.38613790C>G | CA352151590 | SCN5A | c.656G>C (p.Arg219Pro) c.703+185G>C (n.703+185G>C) c.527G>C (p.Arg176Pro) | ClinVar dbSNP |
| 3 | g.38613790C>T | CA10582196 | SCN5A | c.656G>A (p.Arg219His) c.703+185G>A (n.703+185G>A) c.527G>A (p.Arg176His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38613790_38613791insTGAAT | CA542273943 | SCN5A | c.655_656insATTCA (p.Arg219HisfsTer11) c.703+184_703+185insATTCA (n.703+184_703+185insATTCA) c.526_527insATTCA (p.Arg176HisfsTer11) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38613791G>A | CA065472 | SCN5A | c.655C>T (p.Arg219Cys) c.703+184C>T (n.703+184C>T) c.526C>T (p.Arg176Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.38613791G>C | CA352151593 | SCN5A | c.655C>G (p.Arg219Gly) c.703+184C>G (n.703+184C>G) c.526C>G (p.Arg176Gly) | |
| 3 | g.38613791G= | CA1358589377 | SCN5A | c.655C= (p.Arg219=) c.703+184C= (n.703+184C=) c.526C= (p.Arg176=) | |
| 3 | g.38613791G>T | CA352151594 | SCN5A | c.655C>A (p.Arg219Ser) c.703+184C>A (n.703+184C>A) c.526C>A (p.Arg176Ser) | |
| 3 | g.38613792T>A | CA352151595 | SCN5A | c.654A>T (p.Leu218Phe) c.703+183A>T (n.703+183A>T) c.525A>T (p.Leu175Phe) | |
| 3 | g.38613792T>C | CA2524856918 | SCN5A | c.654A>G (p.Leu218=) c.703+183A>G (n.703+183A>G) c.525A>G (p.Leu175=) | |
| 3 | g.38613792T>G | CA352151596 | SCN5A | c.654A>C (p.Leu218Phe) c.703+183A>C (n.703+183A>C) c.525A>C (p.Leu175Phe) | |
| 3 | g.38613792dup | CA10590122 | SCN5A | c.654dup (p.Arg219ThrfsTer?) c.703+183dup (n.703+183dup) c.525dup (p.Arg176ThrfsTer?) | |
| 3 | g.38613793A>C | CA352151599 | SCN5A | c.653T>G (p.Leu218Ter) c.703+182T>G (n.703+182T>G) c.524T>G (p.Leu175Ter) | |
| 3 | g.38613793A>G | CA352151600 | SCN5A | c.653T>C (p.Leu218Ser) c.703+182T>C (n.703+182T>C) c.524T>C (p.Leu175Ser) | |
| 3 | g.38613793A>T | CA352151602 | SCN5A | c.653T>A (p.Leu218Ter) c.703+182T>A (n.703+182T>A) c.524T>A (p.Leu175Ter) | |
| 3 | g.38613794A>C | CA352151604 | SCN5A | c.652T>G (p.Leu218Val) c.703+181T>G (n.703+181T>G) c.523T>G (p.Leu175Val) | |
| 3 | g.38613794A>T | CA352151605 | SCN5A | c.652T>A (p.Leu218Ile) c.703+181T>A (n.703+181T>A) c.523T>A (p.Leu175Ile) | |
| 3 | g.38613795G>A | CA2572993173 | SCN5A | c.651C>T (p.Ala217=) c.703+180C>T (n.703+180C>T) c.522C>T (p.Ala174=) | |
| 3 | g.38613795G>C | CA645519443 | SCN5A | c.651C>G (p.Ala217=) c.703+180C>G (n.703+180C>G) c.522C>G (p.Ala174=) | COSMIC COSMIC |
| 3 | g.38613795G>T | CA2665116270 | SCN5A | c.651C>A (p.Ala217=) c.703+180C>A (n.703+180C>A) c.522C>A (p.Ala174=) | gnomAD v4 |
| 3 | g.38613796G>A | CA352151607 | SCN5A | c.650C>T (p.Ala217Val) c.703+179C>T (n.703+179C>T) c.521C>T (p.Ala174Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38613796G>C | CA352151609 | SCN5A | c.650C>G (p.Ala217Gly) c.703+179C>G (n.703+179C>G) c.521C>G (p.Ala174Gly) | |
| 3 | g.38613796G= | CA1358589378 | SCN5A | c.650C= (p.Ala217=) c.703+179C= (n.703+179C=) c.521C= (p.Ala174=) | |
| 3 | g.38613796G>T | CA352151610 | SCN5A | c.650C>A (p.Ala217Asp) c.703+179C>A (n.703+179C>A) c.521C>A (p.Ala174Asp) | gnomAD v4 COSMIC COSMIC |
| 3 | g.38613797C>A | CA352151613 | SCN5A | c.649G>T (p.Ala217Ser) c.703+178G>T (n.703+178G>T) c.520G>T (p.Ala174Ser) | |
| 3 | g.38613797C>G | CA352151614 | SCN5A | c.649G>C (p.Ala217Pro) c.703+178G>C (n.703+178G>C) c.520G>C (p.Ala174Pro) | |
| 3 | g.38613797C>T | CA352151612 | SCN5A | c.649G>A (p.Ala217Thr) c.703+178G>A (n.703+178G>A) c.520G>A (p.Ala174Thr) | COSMIC COSMIC |
| 3 | g.38613798T>C | CA2665116271 | SCN5A | c.648A>G (p.Ser216=) c.703+177A>G (n.703+177A>G) c.519A>G (p.Ser173=) | gnomAD v4 |
| 3 | g.38613799G>A | CA019682 | SCN5A | c.647C>T (p.Ser216Leu) c.703+176C>T (n.703+176C>T) c.518C>T (p.Ser173Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38613799G>C | CA352151616 | SCN5A | c.647C>G (p.Ser216Ter) c.703+176C>G (n.703+176C>G) c.518C>G (p.Ser173Ter) | |
| 3 | g.38613799G= | CA1358589379 | SCN5A | c.647C= (p.Ser216=) c.703+176C= (n.703+176C=) c.518C= (p.Ser173=) | |
| 3 | g.38613799G>T | CA352151617 | SCN5A | c.647C>A (p.Ser216Ter) c.703+176C>A (n.703+176C>A) c.518C>A (p.Ser173Ter) | |
| 3 | g.38613800A>C | CA352151619 | SCN5A | c.646T>G (p.Ser216Ala) c.703+175T>G (n.703+175T>G) c.517T>G (p.Ser173Ala) | |
| 3 | g.38613800A>G | CA352151621 | SCN5A | c.646T>C (p.Ser216Pro) c.703+175T>C (n.703+175T>C) c.517T>C (p.Ser173Pro) | |
| 3 | g.38613800A>T | CA352151623 | SCN5A | c.646T>A (p.Ser216Thr) c.703+175T>A (n.703+175T>A) c.517T>A (p.Ser173Thr) | |
| 3 | g.38613801G>A | CA2573136293 | SCN5A | c.645C>T (p.Val215=) c.703+174C>T (n.703+174C>T) c.516C>T (p.Val172=) | ClinVar dbSNP |
| 3 | g.38613802A>C | CA352151625 | SCN5A | c.644T>G (p.Val215Gly) c.703+173T>G (n.703+173T>G) c.515T>G (p.Val172Gly) | |
| 3 | g.38613802A>G | CA352151626 | SCN5A | c.644T>C (p.Val215Ala) c.703+173T>C (n.703+173T>C) c.515T>C (p.Val172Ala) | |
| 3 | g.38613802A>T | CA352151628 | SCN5A | c.644T>A (p.Val215Asp) c.703+173T>A (n.703+173T>A) c.515T>A (p.Val172Asp) | |
| 3 | g.38613803C>A | CA352151629 | SCN5A | c.643G>T (p.Val215Phe) c.703+172G>T (n.703+172G>T) c.514G>T (p.Val172Phe) | gnomAD v4 |
| 3 | g.38613803C= | CA1358589380 | SCN5A | c.643G= (p.Val215=) c.703+172G= (n.703+172G=) c.514G= (p.Val172=) | |
| 3 | g.38613803C>G | CA352151631 | SCN5A | c.643G>C (p.Val215Leu) c.703+172G>C (n.703+172G>C) c.514G>C (p.Val172Leu) | |
| 3 | g.38613803C>T | CA352151632 | SCN5A | c.643G>A (p.Val215Ile) c.703+172G>A (n.703+172G>A) c.514G>A (p.Val172Ile) | dbSNP gnomAD v2 |
| 3 | g.38613804A= | CA1358589381 | SCN5A | c.642T= (p.Asn214=) c.703+171T= (n.703+171T=) c.513T= (p.Asn171=) | |
| 3 | g.38613804A>C | CA352151635 | SCN5A | c.642T>G (p.Asn214Lys) c.703+171T>G (n.703+171T>G) c.513T>G (p.Asn171Lys) | |
| 3 | g.38613804A>G | CA542273944 | SCN5A | c.642T>C (p.Asn214=) c.703+171T>C (n.703+171T>C) c.513T>C (p.Asn171=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38613804A>T | CA352151634 | SCN5A | c.642T>A (p.Asn214Lys) c.703+171T>A (n.703+171T>A) c.513T>A (p.Asn171Lys) | |
| 3 | g.38613805T>A | CA352151637 | SCN5A | c.641A>T (p.Asn214Ile) c.703+170A>T (n.703+170A>T) c.512A>T (p.Asn171Ile) | |
| 3 | g.38613805T>C | CA352151639 | SCN5A | c.641A>G (p.Asn214Ser) c.703+170A>G (n.703+170A>G) c.512A>G (p.Asn171Ser) | |
| 3 | g.38613805T>G | CA352151641 | SCN5A | c.641A>C (p.Asn214Thr) c.703+170A>C (n.703+170A>C) c.512A>C (p.Asn171Thr) | |
| 3 | g.38613806T>A | CA352151642 | SCN5A | c.640A>T (p.Asn214Tyr) c.703+169A>T (n.703+169A>T) c.511A>T (p.Asn171Tyr) | |
| 3 | g.38613806T>C | CA352151644 | SCN5A | c.640A>G (p.Asn214Asp) c.703+169A>G (n.703+169A>G) c.511A>G (p.Asn171Asp) | |
| 3 | g.38613806T>G | CA352151646 | SCN5A | c.640A>C (p.Asn214His) c.703+169A>C (n.703+169A>C) c.511A>C (p.Asn171His) | |
| 3 | g.38613807G>A | CA542273945 | SCN5A | c.639C>T (p.Gly213=) c.703+168C>T (n.703+168C>T) c.510C>T (p.Gly170=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38613807G= | CA1358589382 | SCN5A | c.639C= (p.Gly213=) c.703+168C= (n.703+168C=) c.510C= (p.Gly170=) | |
| 3 | g.38613808C>A | CA352151648 | SCN5A | c.638G>T (p.Gly213Val) c.703+167G>T (n.703+167G>T) c.509G>T (p.Gly170Val) | |
| 3 | g.38613808C>G | CA352151650 | SCN5A | c.638G>C (p.Gly213Ala) c.703+167G>C (n.703+167G>C) c.509G>C (p.Gly170Ala) | |
| 3 | g.38613808C>T | CA352151652 | SCN5A | c.638G>A (p.Gly213Asp) c.703+167G>A (n.703+167G>A) c.509G>A (p.Gly170Asp) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38613809C>A | CA352151654 | SCN5A | c.637G>T (p.Gly213Cys) c.703+166G>T (n.703+166G>T) c.508G>T (p.Gly170Cys) | |
| 3 | g.38613809C= | CA1358589383 | SCN5A | c.637G= (p.Gly213=) c.703+166G= (n.703+166G=) c.508G= (p.Gly170=) | |
| 3 | g.38613809C>G | CA352151655 | SCN5A | c.637G>C (p.Gly213Arg) c.703+166G>C (n.703+166G>C) c.508G>C (p.Gly170Arg) | |
| 3 | g.38613809C>T | CA352151657 | SCN5A | c.637G>A (p.Gly213Ser) c.703+166G>A (n.703+166G>A) c.508G>A (p.Gly170Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38613810C= | CA1358589384 | SCN5A | c.636G= (p.Leu212=) c.703+165G= (n.703+165G=) c.507G= (p.Leu169=) | |
| 3 | g.38613810C>T | CA542273946 | SCN5A | c.636G>A (p.Leu212=) c.703+165G>A (n.703+165G>A) c.507G>A (p.Leu169=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38613811A= | CA1358589385 | SCN5A | c.635T= (p.Leu212=) c.703+164T= (n.703+164T=) c.506T= (p.Leu169=) | |
| 3 | g.38613811A>C | CA352151659 | SCN5A | c.635T>G (p.Leu212Arg) c.703+164T>G (n.703+164T>G) c.506T>G (p.Leu169Arg) | |
| 3 | g.38613811A>G | CA019675 | SCN5A | c.635T>C (p.Leu212Pro) c.703+164T>C (n.703+164T>C) c.506T>C (p.Leu169Pro) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38613811A>T | CA019670 | SCN5A | c.635T>A (p.Leu212Gln) c.703+164T>A (n.703+164T>A) c.506T>A (p.Leu169Gln) | ClinVar dbSNP |
| 3 | g.38613812G>A | CA2665116272 | SCN5A | c.634C>T (p.Leu212=) c.703+163C>T (n.703+163C>T) c.505C>T (p.Leu169=) | gnomAD v4 |
| 3 | g.38613812G>C | CA352151664 | SCN5A | c.634C>G (p.Leu212Val) c.703+163C>G (n.703+163C>G) c.505C>G (p.Leu169Val) | ClinVar |
| 3 | g.38613812G>T | CA352151662 | SCN5A | c.634C>A (p.Leu212Met) c.703+163C>A (n.703+163C>A) c.505C>A (p.Leu169Met) | |
| 3 | g.38613813G>A | CA065463 | SCN5A | c.633C>T (p.Asp211=) c.703+162C>T (n.703+162C>T) c.504C>T (p.Asp168=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38613813G>C | CA352151667 | SCN5A | c.633C>G (p.Asp211Glu) c.703+162C>G (n.703+162C>G) c.504C>G (p.Asp168Glu) | |
| 3 | g.38613813G= | CA1358589386 | SCN5A | c.633C= (p.Asp211=) c.703+162C= (n.703+162C=) c.504C= (p.Asp168=) | |
| 3 | g.38613813G>T | CA352151668 | SCN5A | c.633C>A (p.Asp211Glu) c.703+162C>A (n.703+162C>A) c.504C>A (p.Asp168Glu) | gnomAD v4 |
| 3 | g.38613814T>A | CA352151670 | SCN5A | c.632A>T (p.Asp211Val) c.703+161A>T (n.703+161A>T) c.503A>T (p.Asp168Val) | |
| 3 | g.38613814T>C | CA352151672 | SCN5A | c.632A>G (p.Asp211Gly) c.703+161A>G (n.703+161A>G) c.503A>G (p.Asp168Gly) | |
| 3 | g.38613814T>G | CA352151673 | SCN5A | c.632A>C (p.Asp211Ala) c.703+161A>C (n.703+161A>C) c.503A>C (p.Asp168Ala) | |
| 3 | g.38613815C>A | CA352151674 | SCN5A | c.631G>T (p.Asp211Tyr) c.703+160G>T (n.703+160G>T) c.502G>T (p.Asp168Tyr) | gnomAD v4 |
| 3 | g.38613815C>G | CA352151675 | SCN5A | c.631G>C (p.Asp211His) c.703+160G>C (n.703+160G>C) c.502G>C (p.Asp168His) | |
| 3 | g.38613815C>T | CA352151677 | SCN5A | c.631G>A (p.Asp211Asn) c.703+160G>A (n.703+160G>A) c.502G>A (p.Asp168Asn) | |
| 3 | g.38613816C= | CA1358589387 | SCN5A | c.630G= (p.Val210=) c.703+159G= (n.703+159G=) c.501G= (p.Val167=) | |
| 3 | g.38613816C>T | CA019666 | SCN5A | c.630G>A (p.Val210=) c.703+159G>A (n.703+159G>A) c.501G>A (p.Val167=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38613817A>C | CA352151683 | SCN5A | c.629T>G (p.Val210Gly) c.703+158T>G (n.703+158T>G) c.500T>G (p.Val167Gly) | |
| 3 | g.38613817A>G | CA352151682 | SCN5A | c.629T>C (p.Val210Ala) c.703+158T>C (n.703+158T>C) c.500T>C (p.Val167Ala) | |
| 3 | g.38613817A>T | CA352151680 | SCN5A | c.629T>A (p.Val210Glu) c.703+158T>A (n.703+158T>A) c.500T>A (p.Val167Glu) | |
| 3 | g.38613818C>A | CA352151686 | SCN5A | c.628G>T (p.Val210Leu) c.703+157G>T (n.703+157G>T) c.499G>T (p.Val167Leu) | |
| 3 | g.38613818C>G | CA352151687 | SCN5A | c.628G>C (p.Val210Leu) c.703+157G>C (n.703+157G>C) c.499G>C (p.Val167Leu) | |
| 3 | g.38613818C>T | CA352151689 | SCN5A | c.628G>A (p.Val210Met) c.703+157G>A (n.703+157G>A) c.499G>A (p.Val167Met) | gnomAD v4 |
| 3 | g.38613819A= | CA1358589388 | SCN5A | c.627T= (p.Phe209=) c.703+156T= (n.703+156T=) c.498T= (p.Phe166=) | |
| 3 | g.38613819A>C | CA352151690 | SCN5A | c.627T>G (p.Phe209Leu) c.703+156T>G (n.703+156T>G) c.498T>G (p.Phe166Leu) | |
| 3 | g.38613819A>G | CA542273947 | SCN5A | c.627T>C (p.Phe209=) c.703+156T>C (n.703+156T>C) c.498T>C (p.Phe166=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38613819A>T | CA352151692 | SCN5A | c.627T>A (p.Phe209Leu) c.703+156T>A (n.703+156T>A) c.498T>A (p.Phe166Leu) | |
| 3 | g.38613820A= | CA1358589389 | SCN5A | c.626T= (p.Phe209=) c.703+155T= (n.703+155T=) c.497T= (p.Phe166=) | |
| 3 | g.38613820A>C | CA352151694 | SCN5A | c.626T>G (p.Phe209Cys) c.703+155T>G (n.703+155T>G) c.497T>G (p.Phe166Cys) | |
| 3 | g.38613820A>G | CA352151696 | SCN5A | c.626T>C (p.Phe209Ser) c.703+155T>C (n.703+155T>C) c.497T>C (p.Phe166Ser) | gnomAD v4 |
| 3 | g.38613820A>T | CA72943219 | SCN5A | c.626T>A (p.Phe209Tyr) c.703+155T>A (n.703+155T>A) c.497T>A (p.Phe166Tyr) | dbSNP |
| 3 | g.38613821A>C | CA352151699 | SCN5A | c.625T>G (p.Phe209Val) c.703+154T>G (n.703+154T>G) c.496T>G (p.Phe166Val) | |
| 3 | g.38613821A>G | CA352151700 | SCN5A | c.625T>C (p.Phe209Leu) c.703+154T>C (n.703+154T>C) c.496T>C (p.Phe166Leu) | |
| 3 | g.38613821A>T | CA352151701 | SCN5A | c.625T>A (p.Phe209Ile) c.703+154T>A (n.703+154T>A) c.496T>A (p.Phe166Ile) | |
| 3 | g.38613822T>A | CA352151703 | SCN5A | c.624A>T (p.Glu208Asp) c.703+153A>T (n.703+153A>T) c.495A>T (p.Glu165Asp) | |
| 3 | g.38613822T>C | CA645519444 | SCN5A | c.624A>G (p.Glu208=) c.703+153A>G (n.703+153A>G) c.495A>G (p.Glu165=) | COSMIC COSMIC |
| 3 | g.38613822T>G | CA352151704 | SCN5A | c.624A>C (p.Glu208Asp) c.703+153A>C (n.703+153A>C) c.495A>C (p.Glu165Asp) | |
| 3 | g.38613823T>A | CA352151708 | SCN5A | c.623A>T (p.Glu208Val) c.703+152A>T (n.703+152A>T) c.494A>T (p.Glu165Val) | |
| 3 | g.38613823T>C | CA352151709 | SCN5A | c.623A>G (p.Glu208Gly) c.703+152A>G (n.703+152A>G) c.494A>G (p.Glu165Gly) | |
| 3 | g.38613823T>G | CA352151706 | SCN5A | c.623A>C (p.Glu208Ala) c.703+152A>C (n.703+152A>C) c.494A>C (p.Glu165Ala) | |
| 3 | g.38613824C>A | CA352151711 | SCN5A | c.622G>T (p.Glu208Ter) c.703+151G>T (n.703+151G>T) c.493G>T (p.Glu165Ter) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38613824C= | CA1358589390 | SCN5A | c.622G= (p.Glu208=) c.703+151G= (n.703+151G=) c.493G= (p.Glu165=) | |
| 3 | g.38613824C>G | CA352151713 | SCN5A | c.622G>C (p.Glu208Gln) c.703+151G>C (n.703+151G>C) c.493G>C (p.Glu165Gln) | |
| 3 | g.38613824C>T | CA352151715 | SCN5A | c.622G>A (p.Glu208Lys) c.703+151G>A (n.703+151G>A) c.493G>A (p.Glu165Lys) | gnomAD v4 |
| 3 | g.38613825A= | CA1358589391 | SCN5A | c.621T= (p.Thr207=) c.703+150T= (n.703+150T=) c.492T= (p.Thr164=) | |
| 3 | g.38613825A>G | CA065453 | SCN5A | c.621T>C (p.Thr207=) c.703+150T>C (n.703+150T>C) c.492T>C (p.Thr164=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38613826G>A | CA352151718 | SCN5A | c.620C>T (p.Thr207Ile) c.703+149C>T (n.703+149C>T) c.491C>T (p.Thr164Ile) | |
| 3 | g.38613826G>C | CA352151720 | SCN5A | c.620C>G (p.Thr207Ser) c.703+149C>G (n.703+149C>G) c.491C>G (p.Thr164Ser) | |
| 3 | g.38613826G>T | CA352151722 | SCN5A | c.620C>A (p.Thr207Asn) c.703+149C>A (n.703+149C>A) c.491C>A (p.Thr164Asn) | |
| 3 | g.38613827T>A | CA352151724 | SCN5A | c.619A>T (p.Thr207Ser) c.703+148A>T (n.703+148A>T) c.490A>T (p.Thr164Ser) | |
| 3 | g.38613827T>C | CA352151725 | SCN5A | c.619A>G (p.Thr207Ala) c.703+148A>G (n.703+148A>G) c.490A>G (p.Thr164Ala) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.38613827T>G | CA352151726 | SCN5A | c.619A>C (p.Thr207Pro) c.703+148A>C (n.703+148A>C) c.490A>C (p.Thr164Pro) | |
| 3 | g.38613827T= | CA1358589392 | SCN5A | c.619A= (p.Thr207=) c.703+148A= (n.703+148A=) c.490A= (p.Thr164=) | |
| 3 | g.38613828T>C | CA542273948 | SCN5A | c.618A>G (p.Thr206=) c.703+147A>G (n.703+147A>G) c.489A>G (p.Thr163=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38613828T>G | CA2535844203 | SCN5A | c.618A>C (p.Thr206=) c.703+147A>C (n.703+147A>C) c.489A>C (p.Thr163=) | |
| 3 | g.38613828T= | CA1358589393 | SCN5A | c.618A= (p.Thr206=) c.703+147A= (n.703+147A=) c.489A= (p.Thr163=) | |
| 3 | g.38613829del | CA2586971925 | SCN5A | c.617del (p.Thr206LysfsTer22) c.703+146del (n.703+146del) c.488del (p.Thr163LysfsTer22) | |
| 3 | g.38613829G>A | CA352151728 | SCN5A | c.617C>T (p.Thr206Ile) c.703+146C>T (n.703+146C>T) c.488C>T (p.Thr163Ile) | |
| 3 | g.38613829G>C | CA352151730 | SCN5A | c.617C>G (p.Thr206Arg) c.703+146C>G (n.703+146C>G) c.488C>G (p.Thr163Arg) | |
| 3 | g.38613829G>T | CA352151731 | SCN5A | c.617C>A (p.Thr206Lys) c.703+146C>A (n.703+146C>A) c.488C>A (p.Thr163Lys) | gnomAD v4 |
| 3 | g.38613830T>A | CA352151735 | SCN5A | c.616A>T (p.Thr206Ser) c.703+145A>T (n.703+145A>T) c.487A>T (p.Thr163Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38613830T>C | CA352151737 | SCN5A | c.616A>G (p.Thr206Ala) c.703+145A>G (n.703+145A>G) c.487A>G (p.Thr163Ala) | |
| 3 | g.38613830T>G | CA352151733 | SCN5A | c.616A>C (p.Thr206Pro) c.703+145A>C (n.703+145A>C) c.487A>C (p.Thr163Pro) | |
| 3 | g.38613830T= | CA1358589394 | SCN5A | c.616A= (p.Thr206=) c.703+145A= (n.703+145A=) c.487A= (p.Thr163=) | |
| 3 | g.38613831G>A | CA065449 | SCN5A | c.615C>T (p.Tyr205=) c.703+144C>T (n.703+144C>T) c.486C>T (p.Tyr162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38613831G>C | CA352151740 | SCN5A | c.615C>G (p.Tyr205Ter) c.703+144C>G (n.703+144C>G) c.486C>G (p.Tyr162Ter) | |
| 3 | g.38613831G= | CA1358589395 | SCN5A | c.615C= (p.Tyr205=) c.703+144C= (n.703+144C=) c.486C= (p.Tyr162=) | |
| 3 | g.38613831G>T | CA352151741 | SCN5A | c.615C>A (p.Tyr205Ter) c.703+144C>A (n.703+144C>A) c.486C>A (p.Tyr162Ter) | gnomAD v4 |
| 3 | g.38613832T>A | CA352151743 | SCN5A | c.614A>T (p.Tyr205Phe) c.703+143A>T (n.703+143A>T) c.485A>T (p.Tyr162Phe) | |
| 3 | g.38613832T>C | CA352151745 | SCN5A | c.614A>G (p.Tyr205Cys) c.703+143A>G (n.703+143A>G) c.485A>G (p.Tyr162Cys) | |
| 3 | g.38613832T>G | CA352151747 | SCN5A | c.614A>C (p.Tyr205Ser) c.703+143A>C (n.703+143A>C) c.485A>C (p.Tyr162Ser) | |
| 3 | g.38613833A= | CA1358589396 | SCN5A | c.613T= (p.Tyr205=) c.703+142T= (n.703+142T=) c.484T= (p.Tyr162=) | |
| 3 | g.38613833A>C | CA352151751 | SCN5A | c.613T>G (p.Tyr205Asp) c.703+142T>G (n.703+142T>G) c.484T>G (p.Tyr162Asp) | |
| 3 | g.38613833A>G | CA352151748 | SCN5A | c.613T>C (p.Tyr205His) c.703+142T>C (n.703+142T>C) c.484T>C (p.Tyr162His) | ClinVar dbSNP |
| 3 | g.38613833A>T | CA352151750 | SCN5A | c.613T>A (p.Tyr205Asn) c.703+142T>A (n.703+142T>A) c.484T>A (p.Tyr162Asn) | |
| 3 | g.38613834T= | CA1358589397 | SCN5A | c.612A= (p.Ala204=) c.703+141A= (n.703+141A=) c.483A= (p.Glu161=) | |
| 3 | g.38613834_38613835insG | CA1046999463 | SCN5A | c.612-1_612insC (n.612-1_612insC) c.703+140_703+141insC (n.703+140_703+141insC) c.483-1_483insC (n.483-1_483insC) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38613834_38613835insGCCATGATAATCACA | CA2665116273 | SCN5A | c.612-1_612insTGTGATTATCATGGC (n.612-1_612insTGTGATTATCATGGC) c.703+140_703+141insTGTGATTATCATGGC (n.703+140_703+141insTGTGATTATCATGGC) c.483-1_483insTGTGATTATCATGGC (n.483-1_483insTGTGATTATCATGGC) | gnomAD v4 |
| 3 | g.38613835C>A | CA352151753 | SCN5A | c.612-1G>T (n.612-1G>T) c.703+140G>T (n.703+140G>T) c.483-1G>T (n.483-1G>T) | gnomAD v4 |
| 3 | g.38613835C= | CA1358589398 | SCN5A | c.612-1G= (n.612-1G=) c.703+140G= (n.703+140G=) c.483-1G= (n.483-1G=) | |
| 3 | g.38613835C>G | CA352151755 | SCN5A | c.612-1G>C (n.612-1G>C) c.703+140G>C (n.703+140G>C) c.483-1G>C (n.483-1G>C) | dbSNP |
| 3 | g.38613835C>T | CA352151756 | SCN5A | c.612-1G>A (n.612-1G>A) c.703+140G>A (n.703+140G>A) c.483-1G>A (n.483-1G>A) | ClinVar dbSNP |
| 3 | g.38613835_38613836insCATGATAATCACACTAAAGTCCAGCCAGTTCCATGGGTCCCGAAGGAAAGTGAACGCGTGCAGGCAGAAGCCTCGAGCCAGAATCTTGACCAGAGACTCAAAGG | CA1046999467 | SCN5A | c.612-2_612-1insCCTTTGAGTCTCTGGTCAAGATTCTGGCTCGAGGCTTCTGCCTGCACGCGTTCACTTTCCTTCGGGACCCATGGAACTGGCTGGACTTTAGTGTGATTATCATG (n.612-2_612-1insCCTTTGAGTCTCTGGTCAAGATTCTGGCTCGAGGCTTCTGCCTGCACGCGTTCACTTTCCTTCGGGACCCATGGAACTGGCTGGACTTTAGTGTGATTATCATG) c.703+139_703+140insCCTTTGAGTCTCTGGTCAAGATTCTGGCTCGAGGCTTCTGCCTGCACGCGTTCACTTTCCTTCGGGACCCATGGAACTGGCTGGACTTTAGTGTGATTATCATG (n.703+139_703+140insCCTTTGAGTCTCTGGTCAAGATTCTGGCTCGAGGCTTCTGCCTGCACGCGTTCACTTTCCTTCGGGACCCATGGAACTGGCTGGACTTTAGTGTGATTATCATG) c.483-2_483-1insCCTTTGAGTCTCTGGTCAAGATTCTGGCTCGAGGCTTCTGCCTGCACGCGTTCACTTTCCTTCGGGACCCATGGAACTGGCTGGACTTTAGTGTGATTATCATG (n.483-2_483-1insCCTTTGAGTCTCTGGTCAAGATTCTGGCTCGAGGCTTCTGCCTGCACGCGTTCACTTTCCTTCGGGACCCATGGAACTGGCTGGACTTTAGTGTGATTATCATG) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38613836T>A | CA352151759 | SCN5A | c.612-2A>T (n.612-2A>T) c.703+139A>T (n.703+139A>T) c.483-2A>T (n.483-2A>T) | gnomAD v4 |
| 3 | g.38613836T>C | CA019658 | SCN5A | c.612-2A>G (n.612-2A>G) c.703+139A>G (n.703+139A>G) c.483-2A>G (n.483-2A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38613836T>G | CA352151760 | SCN5A | c.612-2A>C (n.612-2A>C) c.703+139A>C (n.703+139A>C) c.483-2A>C (n.483-2A>C) | |
| 3 | g.38613836T= | CA1358589399 | SCN5A | c.612-2A= (n.612-2A=) c.703+139A= (n.703+139A=) c.483-2A= (n.483-2A=) | |
| 3 | g.38613836_38613837insAAAGTCCAGCCAGTTCCATGGGTCCCGAAGGAAAGTGAACGCGTGCAGGCAGAAGCCTCGAGCCAGAATCTTGACCAGAGACTCAAAGGTGTAAATGGCG | CA2665116274 | SCN5A | c.612-3_612-2insCGCCATTTACACCTTTGAGTCTCTGGTCAAGATTCTGGCTCGAGGCTTCTGCCTGCACGCGTTCACTTTCCTTCGGGACCCATGGAACTGGCTGGACTTT (n.612-3_612-2insCGCCATTTACACCTTTGAGTCTCTGGTCAAGATTCTGGCTCGAGGCTTCTGCCTGCACGCGTTCACTTTCCTTCGGGACCCATGGAACTGGCTGGACTTT) c.703+138_703+139insCGCCATTTACACCTTTGAGTCTCTGGTCAAGATTCTGGCTCGAGGCTTCTGCCTGCACGCGTTCACTTTCCTTCGGGACCCATGGAACTGGCTGGACTTT (n.703+138_703+139insCGCCATTTACACCTTTGAGTCTCTGGTCAAGATTCTGGCTCGAGGCTTCTGCCTGCACGCGTTCACTTTCCTTCGGGACCCATGGAACTGGCTGGACTTT) c.483-3_483-2insCGCCATTTACACCTTTGAGTCTCTGGTCAAGATTCTGGCTCGAGGCTTCTGCCTGCACGCGTTCACTTTCCTTCGGGACCCATGGAACTGGCTGGACTTT (n.483-3_483-2insCGCCATTTACACCTTTGAGTCTCTGGTCAAGATTCTGGCTCGAGGCTTCTGCCTGCACGCGTTCACTTTCCTTCGGGACCCATGGAACTGGCTGGACTTT) | gnomAD v4 |
| 3 | g.38613837G>A | CA2665116275 | SCN5A | c.612-3C>T (n.612-3C>T) c.703+138C>T (n.703+138C>T) c.483-3C>T (n.483-3C>T) | gnomAD v4 |
| 3 | g.38613837G>T | CA2557671847 | SCN5A | c.612-3C>A (n.612-3C>A) c.703+138C>A (n.703+138C>A) c.483-3C>A (n.483-3C>A) | |
| 3 | g.38613838T>C | CA2665116276 | SCN5A | c.612-4A>G (n.612-4A>G) c.703+137A>G (n.703+137A>G) c.483-4A>G (n.483-4A>G) | gnomAD v4 |
| 3 | g.38613839A= | CA1358589400 | SCN5A | c.612-5T= (n.612-5T=) c.703+136T= (n.703+136T=) c.483-5T= (n.483-5T=) | |
| 3 | g.38613839A>G | CA1358589401 | SCN5A | c.612-5T>C (n.612-5T>C) c.703+136T>C (n.703+136T>C) c.483-5T>C (n.483-5T>C) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38613841C>A | CA2665116277 | SCN5A | c.612-7G>T (n.612-7G>T) c.703+134G>T (n.703+134G>T) c.483-7G>T (n.483-7G>T) | gnomAD v4 |
| 3 | g.38613841C= | CA1358589402 | SCN5A | c.612-7G= (n.612-7G=) c.703+134G= (n.703+134G=) c.483-7G= (n.483-7G=) | |
| 3 | g.38613841C>T | CA542273949 | SCN5A | c.612-7G>A (n.612-7G>A) c.703+134G>A (n.703+134G>A) c.483-7G>A (n.483-7G>A) | dbSNP gnomAD v2 |
| 3 | g.38613843A= | CA1358589403 | SCN5A | c.612-9T= (n.612-9T=) c.703+132T= (n.703+132T=) c.483-9T= (n.483-9T=) | |
| 3 | g.38613843A>G | CA2577553630 | SCN5A | c.612-9T>C (n.612-9T>C) c.703+132T>C (n.703+132T>C) c.483-9T>C (n.483-9T>C) | |
| 3 | g.38613843A>T | CA542273950 | SCN5A | c.612-9T>A (n.612-9T>A) c.703+132T>A (n.703+132T>A) c.483-9T>A (n.483-9T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38613844G>C | CA1358589405 | SCN5A | c.612-10C>G (n.612-10C>G) c.703+131C>G (n.703+131C>G) c.483-10C>G (n.483-10C>G) | dbSNP |
| 3 | g.38613844G= | CA1358589404 | SCN5A | c.612-10C= (n.612-10C=) c.703+131C= (n.703+131C=) c.483-10C= (n.483-10C=) | |
| 3 | g.38613844G>T | CA2665116278 | SCN5A | c.612-10C>A (n.612-10C>A) c.703+131C>A (n.703+131C>A) c.483-10C>A (n.483-10C>A) | gnomAD v4 |
| 3 | g.38613845G>T | CA2665116279 | SCN5A | c.612-11C>A (n.612-11C>A) c.703+130C>A (n.703+130C>A) c.483-11C>A (n.483-11C>A) | gnomAD v4 |
| 3 | g.38613846G>A | CA065300 | SCN5A | c.612-12C>T (n.612-12C>T) c.703+129C>T (n.703+129C>T) c.483-12C>T (n.483-12C>T) | dbSNP ExAC gnomAD v2 |
| 3 | g.38613846G= | CA1358589406 | SCN5A | c.612-12C= (n.612-12C=) c.703+129C= (n.703+129C=) c.483-12C= (n.483-12C=) | |
| 3 | g.38613846G>T | CA2665116280 | SCN5A | c.612-12C>A (n.612-12C>A) c.703+129C>A (n.703+129C>A) c.483-12C>A (n.483-12C>A) | ClinVar gnomAD v4 |
| 3 | g.38613850T>G | CA2755903386 | SCN5A | c.612-16A>C (n.612-16A>C) c.703+125A>C (n.703+125A>C) c.483-16A>C (n.483-16A>C) | |
| 3 | g.38613851T>C | CA2665116282 | SCN5A | c.612-17A>G (n.612-17A>G) c.703+124A>G (n.703+124A>G) c.483-17A>G (n.483-17A>G) | gnomAD v4 |
| 3 | g.38613851_38613852del | CA2665116281 | SCN5A | c.612-18_612-17del (n.612-18_612-17del) c.703+123_703+124del (n.703+123_703+124del) c.483-18_483-17del (n.483-18_483-17del) | gnomAD v4 |