| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38551041C>A | CA433331971 | SCN5A | c.5328G>T (p.Val1776=) c.5331G>T (p.Val1777=) c.5277G>T (p.Val1759=) c.5169G>T (p.Val1723=) c.5232G>T (p.Val1744=) c.5202G>T (p.Val1734=) c.5274G>T (p.Val1758=) | |
| 3 | g.38551041C= | CA1358557247 | SCN5A | c.5328G= (p.Val1776=) c.5331G= (p.Val1777=) c.5277G= (p.Val1759=) c.5169G= (p.Val1723=) c.5232G= (p.Val1744=) c.5202G= (p.Val1734=) c.5274G= (p.Val1758=) | |
| 3 | g.38551041C>G | CA433331967 | SCN5A | c.5328G>C (p.Val1776=) c.5331G>C (p.Val1777=) c.5277G>C (p.Val1759=) c.5169G>C (p.Val1723=) c.5232G>C (p.Val1744=) c.5202G>C (p.Val1734=) c.5274G>C (p.Val1758=) | |
| 3 | g.38551041C>T | CA433331969 | SCN5A | c.5328G>A (p.Val1776=) c.5331G>A (p.Val1777=) c.5277G>A (p.Val1759=) c.5169G>A (p.Val1723=) c.5232G>A (p.Val1744=) c.5202G>A (p.Val1734=) c.5274G>A (p.Val1758=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551042A>C | CA352141444 | SCN5A | c.5327T>G (p.Val1776Gly) c.5330T>G (p.Val1777Gly) c.5276T>G (p.Val1759Gly) c.5168T>G (p.Val1723Gly) c.5231T>G (p.Val1744Gly) c.5201T>G (p.Val1734Gly) c.5273T>G (p.Val1758Gly) | |
| 3 | g.38551042A>G | CA352141446 | SCN5A | c.5327T>C (p.Val1776Ala) c.5330T>C (p.Val1777Ala) c.5276T>C (p.Val1759Ala) c.5168T>C (p.Val1723Ala) c.5231T>C (p.Val1744Ala) c.5201T>C (p.Val1734Ala) c.5273T>C (p.Val1758Ala) | |
| 3 | g.38551042A>T | CA352141448 | SCN5A | c.5327T>A (p.Val1776Glu) c.5330T>A (p.Val1777Glu) c.5276T>A (p.Val1759Glu) c.5168T>A (p.Val1723Glu) c.5231T>A (p.Val1744Glu) c.5201T>A (p.Val1734Glu) c.5273T>A (p.Val1758Glu) | |
| 3 | g.38551043C>A | CA352141450 | SCN5A | c.5326G>T (p.Val1776Leu) c.5329G>T (p.Val1777Leu) c.5275G>T (p.Val1759Leu) c.5167G>T (p.Val1723Leu) c.5230G>T (p.Val1744Leu) c.5200G>T (p.Val1734Leu) c.5272G>T (p.Val1758Leu) | COSMIC COSMIC COSMIC |
| 3 | g.38551043C= | CA1358557252 | SCN5A | c.5326G= (p.Val1776=) c.5329G= (p.Val1777=) c.5275G= (p.Val1759=) c.5167G= (p.Val1723=) c.5230G= (p.Val1744=) c.5200G= (p.Val1734=) c.5272G= (p.Val1758=) | |
| 3 | g.38551043C>G | CA352141453 | SCN5A | c.5326G>C (p.Val1776Leu) c.5329G>C (p.Val1777Leu) c.5275G>C (p.Val1759Leu) c.5167G>C (p.Val1723Leu) c.5230G>C (p.Val1744Leu) c.5200G>C (p.Val1734Leu) c.5272G>C (p.Val1758Leu) | |
| 3 | g.38551043C>T | CA019129 | SCN5A | c.5326G>A (p.Val1776Met) c.5329G>A (p.Val1777Met) c.5275G>A (p.Val1759Met) c.5167G>A (p.Val1723Met) c.5230G>A (p.Val1744Met) c.5200G>A (p.Val1734Met) c.5272G>A (p.Val1758Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551044G>A | CA433332059 | SCN5A | c.5325C>T (p.Ser1775=) c.5328C>T (p.Ser1776=) c.5274C>T (p.Ser1758=) c.5166C>T (p.Ser1722=) c.5229C>T (p.Ser1743=) c.5199C>T (p.Ser1733=) c.5271C>T (p.Ser1757=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551044G>C | CA352141456 | SCN5A | c.5325C>G (p.Ser1775Arg) c.5328C>G (p.Ser1776Arg) c.5274C>G (p.Ser1758Arg) c.5166C>G (p.Ser1722Arg) c.5229C>G (p.Ser1743Arg) c.5199C>G (p.Ser1733Arg) c.5271C>G (p.Ser1757Arg) | |
| 3 | g.38551044G= | CA1358557255 | SCN5A | c.5325C= (p.Ser1775=) c.5328C= (p.Ser1776=) c.5274C= (p.Ser1758=) c.5166C= (p.Ser1722=) c.5229C= (p.Ser1743=) c.5199C= (p.Ser1733=) c.5271C= (p.Ser1757=) | |
| 3 | g.38551044G>T | CA352141458 | SCN5A | c.5325C>A (p.Ser1775Arg) c.5328C>A (p.Ser1776Arg) c.5274C>A (p.Ser1758Arg) c.5166C>A (p.Ser1722Arg) c.5229C>A (p.Ser1743Arg) c.5199C>A (p.Ser1733Arg) c.5271C>A (p.Ser1757Arg) | |
| 3 | g.38551045C>A | CA352141460 | SCN5A | c.5324G>T (p.Ser1775Ile) c.5327G>T (p.Ser1776Ile) c.5273G>T (p.Ser1758Ile) c.5165G>T (p.Ser1722Ile) c.5228G>T (p.Ser1743Ile) c.5198G>T (p.Ser1733Ile) c.5270G>T (p.Ser1757Ile) | |
| 3 | g.38551045C>G | CA352141462 | SCN5A | c.5324G>C (p.Ser1775Thr) c.5327G>C (p.Ser1776Thr) c.5273G>C (p.Ser1758Thr) c.5165G>C (p.Ser1722Thr) c.5228G>C (p.Ser1743Thr) c.5198G>C (p.Ser1733Thr) c.5270G>C (p.Ser1757Thr) | gnomAD v4 |
| 3 | g.38551045C>T | CA352141464 | SCN5A | c.5324G>A (p.Ser1775Asn) c.5327G>A (p.Ser1776Asn) c.5273G>A (p.Ser1758Asn) c.5165G>A (p.Ser1722Asn) c.5228G>A (p.Ser1743Asn) c.5198G>A (p.Ser1733Asn) c.5270G>A (p.Ser1757Asn) | gnomAD v4 |
| 3 | g.38551046T>A | CA352141472 | SCN5A | c.5323A>T (p.Ser1775Cys) c.5326A>T (p.Ser1776Cys) c.5272A>T (p.Ser1758Cys) c.5164A>T (p.Ser1722Cys) c.5227A>T (p.Ser1743Cys) c.5197A>T (p.Ser1733Cys) c.5269A>T (p.Ser1757Cys) | |
| 3 | g.38551046T>C | CA352141470 | SCN5A | c.5323A>G (p.Ser1775Gly) c.5326A>G (p.Ser1776Gly) c.5272A>G (p.Ser1758Gly) c.5164A>G (p.Ser1722Gly) c.5227A>G (p.Ser1743Gly) c.5197A>G (p.Ser1733Gly) c.5269A>G (p.Ser1757Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551046T>G | CA352141467 | SCN5A | c.5323A>C (p.Ser1775Arg) c.5326A>C (p.Ser1776Arg) c.5272A>C (p.Ser1758Arg) c.5164A>C (p.Ser1722Arg) c.5227A>C (p.Ser1743Arg) c.5197A>C (p.Ser1733Arg) c.5269A>C (p.Ser1757Arg) | |
| 3 | g.38551046T= | CA1358557257 | SCN5A | c.5323A= (p.Ser1775=) c.5326A= (p.Ser1776=) c.5272A= (p.Ser1758=) c.5164A= (p.Ser1722=) c.5227A= (p.Ser1743=) c.5197A= (p.Ser1733=) c.5269A= (p.Ser1757=) | |
| 3 | g.38551047G>A | CA064315 | SCN5A | c.5322C>T (p.Phe1774=) c.5325C>T (p.Phe1775=) c.5271C>T (p.Phe1757=) c.5163C>T (p.Phe1721=) c.5226C>T (p.Phe1742=) c.5196C>T (p.Phe1732=) c.5268C>T (p.Phe1756=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551047G>C | CA352141476 | SCN5A | c.5322C>G (p.Phe1774Leu) c.5325C>G (p.Phe1775Leu) c.5271C>G (p.Phe1757Leu) c.5163C>G (p.Phe1721Leu) c.5226C>G (p.Phe1742Leu) c.5196C>G (p.Phe1732Leu) c.5268C>G (p.Phe1756Leu) | |
| 3 | g.38551047G= | CA1358557259 | SCN5A | c.5322C= (p.Phe1774=) c.5325C= (p.Phe1775=) c.5271C= (p.Phe1757=) c.5163C= (p.Phe1721=) c.5226C= (p.Phe1742=) c.5196C= (p.Phe1732=) c.5268C= (p.Phe1756=) | |
| 3 | g.38551047G>T | CA352141477 | SCN5A | c.5322C>A (p.Phe1774Leu) c.5325C>A (p.Phe1775Leu) c.5271C>A (p.Phe1757Leu) c.5163C>A (p.Phe1721Leu) c.5226C>A (p.Phe1742Leu) c.5196C>A (p.Phe1732Leu) c.5268C>A (p.Phe1756Leu) | |
| 3 | g.38551048A>C | CA352141480 | SCN5A | c.5321T>G (p.Phe1774Cys) c.5324T>G (p.Phe1775Cys) c.5270T>G (p.Phe1757Cys) c.5162T>G (p.Phe1721Cys) c.5225T>G (p.Phe1742Cys) c.5195T>G (p.Phe1732Cys) c.5267T>G (p.Phe1756Cys) | |
| 3 | g.38551048A>G | CA352141482 | SCN5A | c.5321T>C (p.Phe1774Ser) c.5324T>C (p.Phe1775Ser) c.5270T>C (p.Phe1757Ser) c.5162T>C (p.Phe1721Ser) c.5225T>C (p.Phe1742Ser) c.5195T>C (p.Phe1732Ser) c.5267T>C (p.Phe1756Ser) | |
| 3 | g.38551048A>T | CA352141484 | SCN5A | c.5321T>A (p.Phe1774Tyr) c.5324T>A (p.Phe1775Tyr) c.5270T>A (p.Phe1757Tyr) c.5162T>A (p.Phe1721Tyr) c.5225T>A (p.Phe1742Tyr) c.5195T>A (p.Phe1732Tyr) c.5267T>A (p.Phe1756Tyr) | gnomAD v4 |
| 3 | g.38551049del | CA2586965783 | SCN5A | c.5321del (p.Phe1774SerfsTer12) c.5324del (p.Phe1775SerfsTer12) c.5270del (p.Phe1757SerfsTer12) c.5162del (p.Phe1721SerfsTer12) c.5225del (p.Phe1742SerfsTer12) c.5195del (p.Phe1732SerfsTer12) c.5267del (p.Phe1756SerfsTer12) | |
| 3 | g.38551048_38551051dup | CA2586965784 | SCN5A | c.5318_5321dup (p.Phe1774LeufsTer15) c.5321_5324dup (p.Phe1775LeufsTer15) c.5267_5270dup (p.Phe1757LeufsTer15) c.5159_5162dup (p.Phe1721LeufsTer15) c.5222_5225dup (p.Phe1742LeufsTer15) c.5192_5195dup (p.Phe1732LeufsTer15) c.5264_5267dup (p.Phe1756LeufsTer15) | |
| 3 | g.38551049A= | CA1358557261 | SCN5A | c.5320T= (p.Phe1774=) c.5323T= (p.Phe1775=) c.5269T= (p.Phe1757=) c.5161T= (p.Phe1721=) c.5224T= (p.Phe1742=) c.5194T= (p.Phe1732=) c.5266T= (p.Phe1756=) | |
| 3 | g.38551049A>C | CA352141487 | SCN5A | c.5320T>G (p.Phe1774Val) c.5323T>G (p.Phe1775Val) c.5269T>G (p.Phe1757Val) c.5161T>G (p.Phe1721Val) c.5224T>G (p.Phe1742Val) c.5194T>G (p.Phe1732Val) c.5266T>G (p.Phe1756Val) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551049A>G | CA352141491 | SCN5A | c.5320T>C (p.Phe1774Leu) c.5323T>C (p.Phe1775Leu) c.5269T>C (p.Phe1757Leu) c.5161T>C (p.Phe1721Leu) c.5224T>C (p.Phe1742Leu) c.5194T>C (p.Phe1732Leu) c.5266T>C (p.Phe1756Leu) | |
| 3 | g.38551049A>T | CA352141489 | SCN5A | c.5320T>A (p.Phe1774Ile) c.5323T>A (p.Phe1775Ile) c.5269T>A (p.Phe1757Ile) c.5161T>A (p.Phe1721Ile) c.5224T>A (p.Phe1742Ile) c.5194T>A (p.Phe1732Ile) c.5266T>A (p.Phe1756Ile) | |
| 3 | g.38551050G>A | CA064310 | SCN5A | c.5319C>T (p.Asn1773=) c.5322C>T (p.Asn1774=) c.5268C>T (p.Asn1756=) c.5160C>T (p.Asn1720=) c.5223C>T (p.Asn1741=) c.5193C>T (p.Asn1731=) c.5265C>T (p.Asn1755=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551050G>C | CA352141494 | SCN5A | c.5319C>G (p.Asn1773Lys) c.5322C>G (p.Asn1774Lys) c.5268C>G (p.Asn1756Lys) c.5160C>G (p.Asn1720Lys) c.5223C>G (p.Asn1741Lys) c.5193C>G (p.Asn1731Lys) c.5265C>G (p.Asn1755Lys) | |
| 3 | g.38551050G= | CA1358557263 | SCN5A | c.5319C= (p.Asn1773=) c.5322C= (p.Asn1774=) c.5268C= (p.Asn1756=) c.5160C= (p.Asn1720=) c.5223C= (p.Asn1741=) c.5193C= (p.Asn1731=) c.5265C= (p.Asn1755=) | |
| 3 | g.38551050G>T | CA352141496 | SCN5A | c.5319C>A (p.Asn1773Lys) c.5322C>A (p.Asn1774Lys) c.5268C>A (p.Asn1756Lys) c.5160C>A (p.Asn1720Lys) c.5223C>A (p.Asn1741Lys) c.5193C>A (p.Asn1731Lys) c.5265C>A (p.Asn1755Lys) | |
| 3 | g.38551050_38551051delinsGT | CA1358557264 | SCN5A | c.5318_5319delinsAC (p.Asn1773=) c.5321_5322delinsAC (p.Asn1774=) c.5267_5268delinsAC (p.Asn1756=) c.5159_5160delinsAC (p.Asn1720=) c.5222_5223delinsAC (p.Asn1741=) c.5192_5193delinsAC (p.Asn1731=) c.5264_5265delinsAC (p.Asn1755=) | |
| 3 | g.38551051T>A | CA352141498 | SCN5A | c.5318A>T (p.Asn1773Ile) c.5321A>T (p.Asn1774Ile) c.5267A>T (p.Asn1756Ile) c.5159A>T (p.Asn1720Ile) c.5222A>T (p.Asn1741Ile) c.5192A>T (p.Asn1731Ile) c.5264A>T (p.Asn1755Ile) | |
| 3 | g.38551051T>C | CA019124 | SCN5A | c.5318A>G (p.Asn1773Ser) c.5321A>G (p.Asn1774Ser) c.5267A>G (p.Asn1756Ser) c.5159A>G (p.Asn1720Ser) c.5222A>G (p.Asn1741Ser) c.5192A>G (p.Asn1731Ser) c.5264A>G (p.Asn1755Ser) | ClinVar dbSNP |
| 3 | g.38551051T>G | CA352141501 | SCN5A | c.5318A>C (p.Asn1773Thr) c.5321A>C (p.Asn1774Thr) c.5267A>C (p.Asn1756Thr) c.5159A>C (p.Asn1720Thr) c.5222A>C (p.Asn1741Thr) c.5192A>C (p.Asn1731Thr) c.5264A>C (p.Asn1755Thr) | |
| 3 | g.38551051T= | CA1358557267 | SCN5A | c.5318A= (p.Asn1773=) c.5321A= (p.Asn1774=) c.5267A= (p.Asn1756=) c.5159A= (p.Asn1720=) c.5222A= (p.Asn1741=) c.5192A= (p.Asn1731=) c.5264A= (p.Asn1755=) | |
| 3 | g.38551052del | CA1139657964 | SCN5A | c.5318del (p.Asn1773ThrfsTer13) c.5321del (p.Asn1774ThrfsTer13) c.5267del (p.Asn1756ThrfsTer13) c.5159del (p.Asn1720ThrfsTer13) c.5222del (p.Asn1741ThrfsTer13) c.5192del (p.Asn1731ThrfsTer13) c.5264del (p.Asn1755ThrfsTer13) | ClinVar dbSNP |
| 3 | g.38551052T>A | CA352141504 | SCN5A | c.5317A>T (p.Asn1773Tyr) c.5320A>T (p.Asn1774Tyr) c.5266A>T (p.Asn1756Tyr) c.5158A>T (p.Asn1720Tyr) c.5221A>T (p.Asn1741Tyr) c.5191A>T (p.Asn1731Tyr) c.5263A>T (p.Asn1755Tyr) | ClinVar dbSNP |
| 3 | g.38551052T>C | CA019117 | SCN5A | c.5317A>G (p.Asn1773Asp) c.5320A>G (p.Asn1774Asp) c.5266A>G (p.Asn1756Asp) c.5158A>G (p.Asn1720Asp) c.5221A>G (p.Asn1741Asp) c.5191A>G (p.Asn1731Asp) c.5263A>G (p.Asn1755Asp) | ClinVar dbSNP |
| 3 | g.38551052T>G | CA352141507 | SCN5A | c.5317A>C (p.Asn1773His) c.5320A>C (p.Asn1774His) c.5266A>C (p.Asn1756His) c.5158A>C (p.Asn1720His) c.5221A>C (p.Asn1741His) c.5191A>C (p.Asn1731His) c.5263A>C (p.Asn1755His) | |
| 3 | g.38551052T= | CA1358557271 | SCN5A | c.5317A= (p.Asn1773=) c.5320A= (p.Asn1774=) c.5266A= (p.Asn1756=) c.5158A= (p.Asn1720=) c.5221A= (p.Asn1741=) c.5191A= (p.Asn1731=) c.5263A= (p.Asn1755=) | |
| 3 | g.38551053C>A | CA352141510 | SCN5A | c.5316G>T (p.Glu1772Asp) c.5319G>T (p.Glu1773Asp) c.5265G>T (p.Glu1755Asp) c.5157G>T (p.Glu1719Asp) c.5220G>T (p.Glu1740Asp) c.5190G>T (p.Glu1730Asp) c.5262G>T (p.Glu1754Asp) | |
| 3 | g.38551053C>G | CA352141512 | SCN5A | c.5316G>C (p.Glu1772Asp) c.5319G>C (p.Glu1773Asp) c.5265G>C (p.Glu1755Asp) c.5157G>C (p.Glu1719Asp) c.5220G>C (p.Glu1740Asp) c.5190G>C (p.Glu1730Asp) c.5262G>C (p.Glu1754Asp) | |
| 3 | g.38551053C>T | CA433332068 | SCN5A | c.5316G>A (p.Glu1772=) c.5319G>A (p.Glu1773=) c.5265G>A (p.Glu1755=) c.5157G>A (p.Glu1719=) c.5220G>A (p.Glu1740=) c.5190G>A (p.Glu1730=) c.5262G>A (p.Glu1754=) | |
| 3 | g.38551054T>A | CA352141519 | SCN5A | c.5315A>T (p.Glu1772Val) c.5318A>T (p.Glu1773Val) c.5264A>T (p.Glu1755Val) c.5156A>T (p.Glu1719Val) c.5219A>T (p.Glu1740Val) c.5189A>T (p.Glu1730Val) c.5261A>T (p.Glu1754Val) | |
| 3 | g.38551054T>C | CA352141517 | SCN5A | c.5315A>G (p.Glu1772Gly) c.5318A>G (p.Glu1773Gly) c.5264A>G (p.Glu1755Gly) c.5156A>G (p.Glu1719Gly) c.5219A>G (p.Glu1740Gly) c.5189A>G (p.Glu1730Gly) c.5261A>G (p.Glu1754Gly) | |
| 3 | g.38551054T>G | CA352141515 | SCN5A | c.5315A>C (p.Glu1772Ala) c.5318A>C (p.Glu1773Ala) c.5264A>C (p.Glu1755Ala) c.5156A>C (p.Glu1719Ala) c.5219A>C (p.Glu1740Ala) c.5189A>C (p.Glu1730Ala) c.5261A>C (p.Glu1754Ala) | |
| 3 | g.38551055C>A | CA352141522 | SCN5A | c.5314G>T (p.Glu1772Ter) c.5317G>T (p.Glu1773Ter) c.5263G>T (p.Glu1755Ter) c.5155G>T (p.Glu1719Ter) c.5218G>T (p.Glu1740Ter) c.5188G>T (p.Glu1730Ter) c.5260G>T (p.Glu1754Ter) | dbSNP |
| 3 | g.38551055C= | CA1358557274 | SCN5A | c.5314G= (p.Glu1772=) c.5317G= (p.Glu1773=) c.5263G= (p.Glu1755=) c.5155G= (p.Glu1719=) c.5218G= (p.Glu1740=) c.5188G= (p.Glu1730=) c.5260G= (p.Glu1754=) | |
| 3 | g.38551055C>G | CA352141526 | SCN5A | c.5314G>C (p.Glu1772Gln) c.5317G>C (p.Glu1773Gln) c.5263G>C (p.Glu1755Gln) c.5155G>C (p.Glu1719Gln) c.5218G>C (p.Glu1740Gln) c.5188G>C (p.Glu1730Gln) c.5260G>C (p.Glu1754Gln) | gnomAD v4 |
| 3 | g.38551055C>T | CA352141524 | SCN5A | c.5314G>A (p.Glu1772Lys) c.5317G>A (p.Glu1773Lys) c.5263G>A (p.Glu1755Lys) c.5155G>A (p.Glu1719Lys) c.5218G>A (p.Glu1740Lys) c.5188G>A (p.Glu1730Lys) c.5260G>A (p.Glu1754Lys) | |
| 3 | g.38551056C>A | CA433332070 | SCN5A | c.5313G>T (p.Leu1771=) c.5316G>T (p.Leu1772=) c.5262G>T (p.Leu1754=) c.5154G>T (p.Leu1718=) c.5217G>T (p.Leu1739=) c.5187G>T (p.Leu1729=) c.5259G>T (p.Leu1753=) | |
| 3 | g.38551056C= | CA1358557276 | SCN5A | c.5313G= (p.Leu1771=) c.5316G= (p.Leu1772=) c.5262G= (p.Leu1754=) c.5154G= (p.Leu1718=) c.5217G= (p.Leu1739=) c.5187G= (p.Leu1729=) c.5259G= (p.Leu1753=) | |
| 3 | g.38551056C>G | CA433332071 | SCN5A | c.5313G>C (p.Leu1771=) c.5316G>C (p.Leu1772=) c.5262G>C (p.Leu1754=) c.5154G>C (p.Leu1718=) c.5217G>C (p.Leu1739=) c.5187G>C (p.Leu1729=) c.5259G>C (p.Leu1753=) | |
| 3 | g.38551056C>T | CA433332073 | SCN5A | c.5313G>A (p.Leu1771=) c.5316G>A (p.Leu1772=) c.5262G>A (p.Leu1754=) c.5154G>A (p.Leu1718=) c.5217G>A (p.Leu1739=) c.5187G>A (p.Leu1729=) c.5259G>A (p.Leu1753=) | ClinVar dbSNP |
| 3 | g.38551057A= | CA1358557279 | SCN5A | c.5312T= (p.Leu1771=) c.5315T= (p.Leu1772=) c.5261T= (p.Leu1754=) c.5153T= (p.Leu1718=) c.5216T= (p.Leu1739=) c.5186T= (p.Leu1729=) c.5258T= (p.Leu1753=) | |
| 3 | g.38551057A>C | CA352141530 | SCN5A | c.5312T>G (p.Leu1771Arg) c.5315T>G (p.Leu1772Arg) c.5261T>G (p.Leu1754Arg) c.5153T>G (p.Leu1718Arg) c.5216T>G (p.Leu1739Arg) c.5186T>G (p.Leu1729Arg) c.5258T>G (p.Leu1753Arg) | |
| 3 | g.38551057A>G | CA352141533 | SCN5A | c.5312T>C (p.Leu1771Pro) c.5315T>C (p.Leu1772Pro) c.5261T>C (p.Leu1754Pro) c.5153T>C (p.Leu1718Pro) c.5216T>C (p.Leu1739Pro) c.5186T>C (p.Leu1729Pro) c.5258T>C (p.Leu1753Pro) | ClinVar dbSNP |
| 3 | g.38551057A>T | CA352141531 | SCN5A | c.5312T>A (p.Leu1771Gln) c.5315T>A (p.Leu1772Gln) c.5261T>A (p.Leu1754Gln) c.5153T>A (p.Leu1718Gln) c.5216T>A (p.Leu1739Gln) c.5186T>A (p.Leu1729Gln) c.5258T>A (p.Leu1753Gln) | |
| 3 | g.38551058G>A | CA433332074 | SCN5A | c.5311C>T (p.Leu1771=) c.5314C>T (p.Leu1772=) c.5260C>T (p.Leu1754=) c.5152C>T (p.Leu1718=) c.5215C>T (p.Leu1739=) c.5185C>T (p.Leu1729=) c.5257C>T (p.Leu1753=) | |
| 3 | g.38551058G>C | CA019110 | SCN5A | c.5311C>G (p.Leu1771Val) c.5314C>G (p.Leu1772Val) c.5260C>G (p.Leu1754Val) c.5152C>G (p.Leu1718Val) c.5215C>G (p.Leu1739Val) c.5185C>G (p.Leu1729Val) c.5257C>G (p.Leu1753Val) | ClinVar dbSNP |
| 3 | g.38551058G= | CA1358557282 | SCN5A | c.5311C= (p.Leu1771=) c.5314C= (p.Leu1772=) c.5260C= (p.Leu1754=) c.5152C= (p.Leu1718=) c.5215C= (p.Leu1739=) c.5185C= (p.Leu1729=) c.5257C= (p.Leu1753=) | |
| 3 | g.38551058G>T | CA352141537 | SCN5A | c.5311C>A (p.Leu1771Met) c.5314C>A (p.Leu1772Met) c.5260C>A (p.Leu1754Met) c.5152C>A (p.Leu1718Met) c.5215C>A (p.Leu1739Met) c.5185C>A (p.Leu1729Met) c.5257C>A (p.Leu1753Met) | |
| 3 | g.38551059del | CA2586965786 | SCN5A | c.5311del (p.Leu1771TrpfsTer15) c.5314del (p.Leu1772TrpfsTer15) c.5260del (p.Leu1754TrpfsTer15) c.5152del (p.Leu1718TrpfsTer15) c.5215del (p.Leu1739TrpfsTer15) c.5185del (p.Leu1729TrpfsTer15) c.5257del (p.Leu1753TrpfsTer15) | |
| 3 | g.38551059G>A | CA433332075 | SCN5A | c.5310C>T (p.Ile1770=) c.5313C>T (p.Ile1771=) c.5259C>T (p.Ile1753=) c.5151C>T (p.Ile1717=) c.5214C>T (p.Ile1738=) c.5184C>T (p.Ile1728=) c.5256C>T (p.Ile1752=) | |
| 3 | g.38551059G>C | CA352141539 | SCN5A | c.5310C>G (p.Ile1770Met) c.5313C>G (p.Ile1771Met) c.5259C>G (p.Ile1753Met) c.5151C>G (p.Ile1717Met) c.5214C>G (p.Ile1738Met) c.5184C>G (p.Ile1728Met) c.5256C>G (p.Ile1752Met) | ClinVar |
| 3 | g.38551059G>T | CA433332078 | SCN5A | c.5310C>A (p.Ile1770=) c.5313C>A (p.Ile1771=) c.5259C>A (p.Ile1753=) c.5151C>A (p.Ile1717=) c.5214C>A (p.Ile1738=) c.5184C>A (p.Ile1728=) c.5256C>A (p.Ile1752=) | |
| 3 | g.38551060A= | CA1358557285 | SCN5A | c.5309T= (p.Ile1770=) c.5312T= (p.Ile1771=) c.5258T= (p.Ile1753=) c.5150T= (p.Ile1717=) c.5213T= (p.Ile1738=) c.5183T= (p.Ile1728=) c.5255T= (p.Ile1752=) | |
| 3 | g.38551060A>C | CA352141541 | SCN5A | c.5309T>G (p.Ile1770Ser) c.5312T>G (p.Ile1771Ser) c.5258T>G (p.Ile1753Ser) c.5150T>G (p.Ile1717Ser) c.5213T>G (p.Ile1738Ser) c.5183T>G (p.Ile1728Ser) c.5255T>G (p.Ile1752Ser) | |
| 3 | g.38551060A>G | CA064307 | SCN5A | c.5309T>C (p.Ile1770Thr) c.5312T>C (p.Ile1771Thr) c.5258T>C (p.Ile1753Thr) c.5150T>C (p.Ile1717Thr) c.5213T>C (p.Ile1738Thr) c.5183T>C (p.Ile1728Thr) c.5255T>C (p.Ile1752Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551060A>T | CA352141542 | SCN5A | c.5309T>A (p.Ile1770Asn) c.5312T>A (p.Ile1771Asn) c.5258T>A (p.Ile1753Asn) c.5150T>A (p.Ile1717Asn) c.5213T>A (p.Ile1738Asn) c.5183T>A (p.Ile1728Asn) c.5255T>A (p.Ile1752Asn) | |
| 3 | g.38551061T>A | CA352141543 | SCN5A | c.5308A>T (p.Ile1770Phe) c.5311A>T (p.Ile1771Phe) c.5257A>T (p.Ile1753Phe) c.5149A>T (p.Ile1717Phe) c.5212A>T (p.Ile1738Phe) c.5182A>T (p.Ile1728Phe) c.5254A>T (p.Ile1752Phe) | |
| 3 | g.38551061T>C | CA352141544 | SCN5A | c.5308A>G (p.Ile1770Val) c.5311A>G (p.Ile1771Val) c.5257A>G (p.Ile1753Val) c.5149A>G (p.Ile1717Val) c.5212A>G (p.Ile1738Val) c.5182A>G (p.Ile1728Val) c.5254A>G (p.Ile1752Val) | |
| 3 | g.38551061T>G | CA352141546 | SCN5A | c.5308A>C (p.Ile1770Leu) c.5311A>C (p.Ile1771Leu) c.5257A>C (p.Ile1753Leu) c.5149A>C (p.Ile1717Leu) c.5212A>C (p.Ile1738Leu) c.5182A>C (p.Ile1728Leu) c.5254A>C (p.Ile1752Leu) | |
| 3 | g.38551062G>A | CA433332083 | SCN5A | c.5307C>T (p.Ile1769=) c.5310C>T (p.Ile1770=) c.5256C>T (p.Ile1752=) c.5148C>T (p.Ile1716=) c.5211C>T (p.Ile1737=) c.5181C>T (p.Ile1727=) c.5253C>T (p.Ile1751=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551062G>C | CA352141547 | SCN5A | c.5307C>G (p.Ile1769Met) c.5310C>G (p.Ile1770Met) c.5256C>G (p.Ile1752Met) c.5148C>G (p.Ile1716Met) c.5211C>G (p.Ile1737Met) c.5181C>G (p.Ile1727Met) c.5253C>G (p.Ile1751Met) | |
| 3 | g.38551062G= | CA1358557287 | SCN5A | c.5307C= (p.Ile1769=) c.5310C= (p.Ile1770=) c.5256C= (p.Ile1752=) c.5148C= (p.Ile1716=) c.5211C= (p.Ile1737=) c.5181C= (p.Ile1727=) c.5253C= (p.Ile1751=) | |
| 3 | g.38551062G>T | CA433332081 | SCN5A | c.5307C>A (p.Ile1769=) c.5310C>A (p.Ile1770=) c.5256C>A (p.Ile1752=) c.5148C>A (p.Ile1716=) c.5211C>A (p.Ile1737=) c.5181C>A (p.Ile1727=) c.5253C>A (p.Ile1751=) | |
| 3 | g.38551063A>C | CA352141552 | SCN5A | c.5306T>G (p.Ile1769Ser) c.5309T>G (p.Ile1770Ser) c.5255T>G (p.Ile1752Ser) c.5147T>G (p.Ile1716Ser) c.5210T>G (p.Ile1737Ser) c.5180T>G (p.Ile1727Ser) c.5252T>G (p.Ile1751Ser) | |
| 3 | g.38551063A>G | CA352141550 | SCN5A | c.5306T>C (p.Ile1769Thr) c.5309T>C (p.Ile1770Thr) c.5255T>C (p.Ile1752Thr) c.5147T>C (p.Ile1716Thr) c.5210T>C (p.Ile1737Thr) c.5180T>C (p.Ile1727Thr) c.5252T>C (p.Ile1751Thr) | |
| 3 | g.38551063A>T | CA352141549 | SCN5A | c.5306T>A (p.Ile1769Asn) c.5309T>A (p.Ile1770Asn) c.5255T>A (p.Ile1752Asn) c.5147T>A (p.Ile1716Asn) c.5210T>A (p.Ile1737Asn) c.5180T>A (p.Ile1727Asn) c.5252T>A (p.Ile1751Asn) | |
| 3 | g.38551064T>A | CA352141554 | SCN5A | c.5305A>T (p.Ile1769Phe) c.5308A>T (p.Ile1770Phe) c.5254A>T (p.Ile1752Phe) c.5146A>T (p.Ile1716Phe) c.5209A>T (p.Ile1737Phe) c.5179A>T (p.Ile1727Phe) c.5251A>T (p.Ile1751Phe) | |
| 3 | g.38551064T>C | CA352141556 | SCN5A | c.5305A>G (p.Ile1769Val) c.5308A>G (p.Ile1770Val) c.5254A>G (p.Ile1752Val) c.5146A>G (p.Ile1716Val) c.5209A>G (p.Ile1737Val) c.5179A>G (p.Ile1727Val) c.5251A>G (p.Ile1751Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551064T>G | CA352141558 | SCN5A | c.5305A>C (p.Ile1769Leu) c.5308A>C (p.Ile1770Leu) c.5254A>C (p.Ile1752Leu) c.5146A>C (p.Ile1716Leu) c.5209A>C (p.Ile1737Leu) c.5179A>C (p.Ile1727Leu) c.5251A>C (p.Ile1751Leu) | |
| 3 | g.38551064T= | CA1358557289 | SCN5A | c.5305A= (p.Ile1769=) c.5308A= (p.Ile1770=) c.5254A= (p.Ile1752=) c.5146A= (p.Ile1716=) c.5209A= (p.Ile1737=) c.5179A= (p.Ile1727=) c.5251A= (p.Ile1751=) | |
| 3 | g.38551065G>A | CA433332085 | SCN5A | c.5304C>T (p.Ala1768=) c.5307C>T (p.Ala1769=) c.5253C>T (p.Ala1751=) c.5145C>T (p.Ala1715=) c.5208C>T (p.Ala1736=) c.5178C>T (p.Ala1726=) c.5250C>T (p.Ala1750=) | ClinVar |
| 3 | g.38551065G>C | CA433332086 | SCN5A | c.5304C>G (p.Ala1768=) c.5307C>G (p.Ala1769=) c.5253C>G (p.Ala1751=) c.5145C>G (p.Ala1715=) c.5208C>G (p.Ala1736=) c.5178C>G (p.Ala1726=) c.5250C>G (p.Ala1750=) | |
| 3 | g.38551065G>T | CA433332087 | SCN5A | c.5304C>A (p.Ala1768=) c.5307C>A (p.Ala1769=) c.5253C>A (p.Ala1751=) c.5145C>A (p.Ala1715=) c.5208C>A (p.Ala1736=) c.5178C>A (p.Ala1726=) c.5250C>A (p.Ala1750=) | |
| 3 | g.38551066G>A | CA352141559 | SCN5A | c.5303C>T (p.Ala1768Val) c.5306C>T (p.Ala1769Val) c.5252C>T (p.Ala1751Val) c.5144C>T (p.Ala1715Val) c.5207C>T (p.Ala1736Val) c.5177C>T (p.Ala1726Val) c.5249C>T (p.Ala1750Val) | gnomAD v4 |
| 3 | g.38551066G>C | CA352141561 | SCN5A | c.5303C>G (p.Ala1768Gly) c.5306C>G (p.Ala1769Gly) c.5252C>G (p.Ala1751Gly) c.5144C>G (p.Ala1715Gly) c.5207C>G (p.Ala1736Gly) c.5177C>G (p.Ala1726Gly) c.5249C>G (p.Ala1750Gly) | |
| 3 | g.38551066G>T | CA352141562 | SCN5A | c.5303C>A (p.Ala1768Asp) c.5306C>A (p.Ala1769Asp) c.5252C>A (p.Ala1751Asp) c.5144C>A (p.Ala1715Asp) c.5207C>A (p.Ala1736Asp) c.5177C>A (p.Ala1726Asp) c.5249C>A (p.Ala1750Asp) | |
| 3 | g.38551067C>A | CA352141565 | SCN5A | c.5302G>T (p.Ala1768Ser) c.5305G>T (p.Ala1769Ser) c.5251G>T (p.Ala1751Ser) c.5143G>T (p.Ala1715Ser) c.5206G>T (p.Ala1736Ser) c.5176G>T (p.Ala1726Ser) c.5248G>T (p.Ala1750Ser) | |
| 3 | g.38551067C>G | CA352141566 | SCN5A | c.5302G>C (p.Ala1768Pro) c.5305G>C (p.Ala1769Pro) c.5251G>C (p.Ala1751Pro) c.5143G>C (p.Ala1715Pro) c.5206G>C (p.Ala1736Pro) c.5176G>C (p.Ala1726Pro) c.5248G>C (p.Ala1750Pro) | |
| 3 | g.38551067C>T | CA352141568 | SCN5A | c.5302G>A (p.Ala1768Thr) c.5305G>A (p.Ala1769Thr) c.5251G>A (p.Ala1751Thr) c.5143G>A (p.Ala1715Thr) c.5206G>A (p.Ala1736Thr) c.5176G>A (p.Ala1726Thr) c.5248G>A (p.Ala1750Thr) | COSMIC COSMIC COSMIC |
| 3 | g.38551068A= | CA1358557291 | SCN5A | c.5301T= (p.Ile1767=) c.5304T= (p.Ile1768=) c.5250T= (p.Ile1750=) c.5142T= (p.Ile1714=) c.5205T= (p.Ile1735=) c.5175T= (p.Ile1725=) c.5247T= (p.Ile1749=) | |
| 3 | g.38551068A>C | CA352141570 | SCN5A | c.5301T>G (p.Ile1767Met) c.5304T>G (p.Ile1768Met) c.5250T>G (p.Ile1750Met) c.5142T>G (p.Ile1714Met) c.5205T>G (p.Ile1735Met) c.5175T>G (p.Ile1725Met) c.5247T>G (p.Ile1749Met) | |
| 3 | g.38551068A>G | CA019104 | SCN5A | c.5301T>C (p.Ile1767=) c.5304T>C (p.Ile1768=) c.5250T>C (p.Ile1750=) c.5142T>C (p.Ile1714=) c.5205T>C (p.Ile1735=) c.5175T>C (p.Ile1725=) c.5247T>C (p.Ile1749=) | ClinVar dbSNP |
| 3 | g.38551068A>T | CA433332092 | SCN5A | c.5301T>A (p.Ile1767=) c.5304T>A (p.Ile1768=) c.5250T>A (p.Ile1750=) c.5142T>A (p.Ile1714=) c.5205T>A (p.Ile1735=) c.5175T>A (p.Ile1725=) c.5247T>A (p.Ile1749=) | |
| 3 | g.38551069A>C | CA352141575 | SCN5A | c.5300T>G (p.Ile1767Ser) c.5303T>G (p.Ile1768Ser) c.5249T>G (p.Ile1750Ser) c.5141T>G (p.Ile1714Ser) c.5204T>G (p.Ile1735Ser) c.5174T>G (p.Ile1725Ser) c.5246T>G (p.Ile1749Ser) | |
| 3 | g.38551069A>G | CA352141577 | SCN5A | c.5300T>C (p.Ile1767Thr) c.5303T>C (p.Ile1768Thr) c.5249T>C (p.Ile1750Thr) c.5141T>C (p.Ile1714Thr) c.5204T>C (p.Ile1735Thr) c.5174T>C (p.Ile1725Thr) c.5246T>C (p.Ile1749Thr) | |
| 3 | g.38551069A>T | CA352141573 | SCN5A | c.5300T>A (p.Ile1767Asn) c.5303T>A (p.Ile1768Asn) c.5249T>A (p.Ile1750Asn) c.5141T>A (p.Ile1714Asn) c.5204T>A (p.Ile1735Asn) c.5174T>A (p.Ile1725Asn) c.5246T>A (p.Ile1749Asn) | |
| 3 | g.38551070T>A | CA352141579 | SCN5A | c.5299A>T (p.Ile1767Phe) c.5302A>T (p.Ile1768Phe) c.5248A>T (p.Ile1750Phe) c.5140A>T (p.Ile1714Phe) c.5203A>T (p.Ile1735Phe) c.5173A>T (p.Ile1725Phe) c.5245A>T (p.Ile1749Phe) | |
| 3 | g.38551070T>C | CA019094 | SCN5A | c.5299A>G (p.Ile1767Val) c.5302A>G (p.Ile1768Val) c.5248A>G (p.Ile1750Val) c.5140A>G (p.Ile1714Val) c.5203A>G (p.Ile1735Val) c.5173A>G (p.Ile1725Val) c.5245A>G (p.Ile1749Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551070T>G | CA352141582 | SCN5A | c.5299A>C (p.Ile1767Leu) c.5302A>C (p.Ile1768Leu) c.5248A>C (p.Ile1750Leu) c.5140A>C (p.Ile1714Leu) c.5203A>C (p.Ile1735Leu) c.5173A>C (p.Ile1725Leu) c.5245A>C (p.Ile1749Leu) | |
| 3 | g.38551070T= | CA1358557295 | SCN5A | c.5299A= (p.Ile1767=) c.5302A= (p.Ile1768=) c.5248A= (p.Ile1750=) c.5140A= (p.Ile1714=) c.5203A= (p.Ile1735=) c.5173A= (p.Ile1725=) c.5245A= (p.Ile1749=) | |
| 3 | g.38551071G>A | CA433332097 | SCN5A | c.5298C>T (p.Tyr1766=) c.5301C>T (p.Tyr1767=) c.5247C>T (p.Tyr1749=) c.5139C>T (p.Tyr1713=) c.5202C>T (p.Tyr1734=) c.5172C>T (p.Tyr1724=) c.5244C>T (p.Tyr1748=) | |
| 3 | g.38551071G>C | CA352141583 | SCN5A | c.5298C>G (p.Tyr1766Ter) c.5301C>G (p.Tyr1767Ter) c.5247C>G (p.Tyr1749Ter) c.5139C>G (p.Tyr1713Ter) c.5202C>G (p.Tyr1734Ter) c.5172C>G (p.Tyr1724Ter) c.5244C>G (p.Tyr1748Ter) | |
| 3 | g.38551071G>T | CA352141584 | SCN5A | c.5298C>A (p.Tyr1766Ter) c.5301C>A (p.Tyr1767Ter) c.5247C>A (p.Tyr1749Ter) c.5139C>A (p.Tyr1713Ter) c.5202C>A (p.Tyr1734Ter) c.5172C>A (p.Tyr1724Ter) c.5244C>A (p.Tyr1748Ter) | |
| 3 | g.38551072T>A | CA352141587 | SCN5A | c.5297A>T (p.Tyr1766Phe) c.5300A>T (p.Tyr1767Phe) c.5246A>T (p.Tyr1749Phe) c.5138A>T (p.Tyr1713Phe) c.5201A>T (p.Tyr1734Phe) c.5171A>T (p.Tyr1724Phe) c.5243A>T (p.Tyr1748Phe) | |
| 3 | g.38551072T>C | CA019087 | SCN5A | c.5297A>G (p.Tyr1766Cys) c.5300A>G (p.Tyr1767Cys) c.5246A>G (p.Tyr1749Cys) c.5138A>G (p.Tyr1713Cys) c.5201A>G (p.Tyr1734Cys) c.5171A>G (p.Tyr1724Cys) c.5243A>G (p.Tyr1748Cys) | ClinVar dbSNP |
| 3 | g.38551072T>G | CA352141589 | SCN5A | c.5297A>C (p.Tyr1766Ser) c.5300A>C (p.Tyr1767Ser) c.5246A>C (p.Tyr1749Ser) c.5138A>C (p.Tyr1713Ser) c.5201A>C (p.Tyr1734Ser) c.5171A>C (p.Tyr1724Ser) c.5243A>C (p.Tyr1748Ser) | |
| 3 | g.38551072T= | CA1358557299 | SCN5A | c.5297A= (p.Tyr1766=) c.5300A= (p.Tyr1767=) c.5246A= (p.Tyr1749=) c.5138A= (p.Tyr1713=) c.5201A= (p.Tyr1734=) c.5171A= (p.Tyr1724=) c.5243A= (p.Tyr1748=) | |
| 3 | g.38551073A>C | CA352141592 | SCN5A | c.5296T>G (p.Tyr1766Asp) c.5299T>G (p.Tyr1767Asp) c.5245T>G (p.Tyr1749Asp) c.5137T>G (p.Tyr1713Asp) c.5200T>G (p.Tyr1734Asp) c.5170T>G (p.Tyr1724Asp) c.5242T>G (p.Tyr1748Asp) | |
| 3 | g.38551073A>G | CA352141593 | SCN5A | c.5296T>C (p.Tyr1766His) c.5299T>C (p.Tyr1767His) c.5245T>C (p.Tyr1749His) c.5137T>C (p.Tyr1713His) c.5200T>C (p.Tyr1734His) c.5170T>C (p.Tyr1724His) c.5242T>C (p.Tyr1748His) | ClinVar |
| 3 | g.38551073A>T | CA352141594 | SCN5A | c.5296T>A (p.Tyr1766Asn) c.5299T>A (p.Tyr1767Asn) c.5245T>A (p.Tyr1749Asn) c.5137T>A (p.Tyr1713Asn) c.5200T>A (p.Tyr1734Asn) c.5170T>A (p.Tyr1724Asn) c.5242T>A (p.Tyr1748Asn) | |
| 3 | g.38551074del | CA2697550806 | SCN5A | c.5295del (p.Met1765IlefsTer21) c.5298del (p.Met1766IlefsTer21) c.5244del (p.Met1748IlefsTer21) c.5136del (p.Met1712IlefsTer21) c.5199del (p.Met1733IlefsTer21) c.5169del (p.Met1723IlefsTer21) c.5241del (p.Met1747IlefsTer21) | ClinVar |
| 3 | g.38551074C>A | CA352141598 | SCN5A | c.5295G>T (p.Met1765Ile) c.5298G>T (p.Met1766Ile) c.5244G>T (p.Met1748Ile) c.5136G>T (p.Met1712Ile) c.5199G>T (p.Met1733Ile) c.5169G>T (p.Met1723Ile) c.5241G>T (p.Met1747Ile) | |
| 3 | g.38551074C= | CA1358557302 | SCN5A | c.5295G= (p.Met1765=) c.5298G= (p.Met1766=) c.5244G= (p.Met1748=) c.5136G= (p.Met1712=) c.5199G= (p.Met1733=) c.5169G= (p.Met1723=) c.5241G= (p.Met1747=) | |
| 3 | g.38551074C>G | CA352141600 | SCN5A | c.5295G>C (p.Met1765Ile) c.5298G>C (p.Met1766Ile) c.5244G>C (p.Met1748Ile) c.5136G>C (p.Met1712Ile) c.5199G>C (p.Met1733Ile) c.5169G>C (p.Met1723Ile) c.5241G>C (p.Met1747Ile) | ClinVar |
| 3 | g.38551074C>T | CA352141596 | SCN5A | c.5295G>A (p.Met1765Ile) c.5298G>A (p.Met1766Ile) c.5244G>A (p.Met1748Ile) c.5136G>A (p.Met1712Ile) c.5199G>A (p.Met1733Ile) c.5169G>A (p.Met1723Ile) c.5241G>A (p.Met1747Ile) | ClinVar dbSNP |
| 3 | g.38551075A= | CA1358557305 | SCN5A | c.5294T= (p.Met1765=) c.5297T= (p.Met1766=) c.5243T= (p.Met1748=) c.5135T= (p.Met1712=) c.5198T= (p.Met1733=) c.5168T= (p.Met1723=) c.5240T= (p.Met1747=) | |
| 3 | g.38551075A>C | CA352141601 | SCN5A | c.5294T>G (p.Met1765Arg) c.5297T>G (p.Met1766Arg) c.5243T>G (p.Met1748Arg) c.5135T>G (p.Met1712Arg) c.5198T>G (p.Met1733Arg) c.5168T>G (p.Met1723Arg) c.5240T>G (p.Met1747Arg) | ClinVar dbSNP |
| 3 | g.38551075A>G | CA064298 | SCN5A | c.5294T>C (p.Met1765Thr) c.5297T>C (p.Met1766Thr) c.5243T>C (p.Met1748Thr) c.5135T>C (p.Met1712Thr) c.5198T>C (p.Met1733Thr) c.5168T>C (p.Met1723Thr) c.5240T>C (p.Met1747Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551075A>T | CA019080 | SCN5A | c.5294T>A (p.Met1765Lys) c.5297T>A (p.Met1766Lys) c.5243T>A (p.Met1748Lys) c.5135T>A (p.Met1712Lys) c.5198T>A (p.Met1733Lys) c.5168T>A (p.Met1723Lys) c.5240T>A (p.Met1747Lys) | ClinVar dbSNP |
| 3 | g.38551076T>A | CA352141606 | SCN5A | c.5293A>T (p.Met1765Leu) c.5296A>T (p.Met1766Leu) c.5242A>T (p.Met1748Leu) c.5134A>T (p.Met1712Leu) c.5197A>T (p.Met1733Leu) c.5167A>T (p.Met1723Leu) c.5239A>T (p.Met1747Leu) | ClinVar dbSNP |
| 3 | g.38551076T>C | CA352141607 | SCN5A | c.5293A>G (p.Met1765Val) c.5296A>G (p.Met1766Val) c.5242A>G (p.Met1748Val) c.5134A>G (p.Met1712Val) c.5197A>G (p.Met1733Val) c.5167A>G (p.Met1723Val) c.5239A>G (p.Met1747Val) | ClinVar dbSNP |
| 3 | g.38551076T>G | CA019076 | SCN5A | c.5293A>C (p.Met1765Leu) c.5296A>C (p.Met1766Leu) c.5242A>C (p.Met1748Leu) c.5134A>C (p.Met1712Leu) c.5197A>C (p.Met1733Leu) c.5167A>C (p.Met1723Leu) c.5239A>C (p.Met1747Leu) | ClinVar dbSNP |
| 3 | g.38551076T= | CA1358557311 | SCN5A | c.5293A= (p.Met1765=) c.5296A= (p.Met1766=) c.5242A= (p.Met1748=) c.5134A= (p.Met1712=) c.5197A= (p.Met1733=) c.5167A= (p.Met1723=) c.5239A= (p.Met1747=) | |
| 3 | g.38551077G>A | CA433332108 | SCN5A | c.5292C>T (p.Asn1764=) c.5295C>T (p.Asn1765=) c.5241C>T (p.Asn1747=) c.5133C>T (p.Asn1711=) c.5196C>T (p.Asn1732=) c.5166C>T (p.Asn1722=) c.5238C>T (p.Asn1746=) | ClinVar |
| 3 | g.38551077G>C | CA352141610 | SCN5A | c.5292C>G (p.Asn1764Lys) c.5295C>G (p.Asn1765Lys) c.5241C>G (p.Asn1747Lys) c.5133C>G (p.Asn1711Lys) c.5196C>G (p.Asn1732Lys) c.5166C>G (p.Asn1722Lys) c.5238C>G (p.Asn1746Lys) | |
| 3 | g.38551077G>T | CA352141611 | SCN5A | c.5292C>A (p.Asn1764Lys) c.5295C>A (p.Asn1765Lys) c.5241C>A (p.Asn1747Lys) c.5133C>A (p.Asn1711Lys) c.5196C>A (p.Asn1732Lys) c.5166C>A (p.Asn1722Lys) c.5238C>A (p.Asn1746Lys) | |
| 3 | g.38551078T>A | CA352141612 | SCN5A | c.5291A>T (p.Asn1764Ile) c.5294A>T (p.Asn1765Ile) c.5240A>T (p.Asn1747Ile) c.5132A>T (p.Asn1711Ile) c.5195A>T (p.Asn1732Ile) c.5165A>T (p.Asn1722Ile) c.5237A>T (p.Asn1746Ile) | |
| 3 | g.38551078T>C | CA352141613 | SCN5A | c.5291A>G (p.Asn1764Ser) c.5294A>G (p.Asn1765Ser) c.5240A>G (p.Asn1747Ser) c.5132A>G (p.Asn1711Ser) c.5195A>G (p.Asn1732Ser) c.5165A>G (p.Asn1722Ser) c.5237A>G (p.Asn1746Ser) | ClinVar |
| 3 | g.38551078T>G | CA352141614 | SCN5A | c.5291A>C (p.Asn1764Thr) c.5294A>C (p.Asn1765Thr) c.5240A>C (p.Asn1747Thr) c.5132A>C (p.Asn1711Thr) c.5195A>C (p.Asn1732Thr) c.5165A>C (p.Asn1722Thr) c.5237A>C (p.Asn1746Thr) | |
| 3 | g.38551079T>A | CA352141615 | SCN5A | c.5290A>T (p.Asn1764Tyr) c.5293A>T (p.Asn1765Tyr) c.5239A>T (p.Asn1747Tyr) c.5131A>T (p.Asn1711Tyr) c.5194A>T (p.Asn1732Tyr) c.5164A>T (p.Asn1722Tyr) c.5236A>T (p.Asn1746Tyr) | |
| 3 | g.38551079T>C | CA352141616 | SCN5A | c.5290A>G (p.Asn1764Asp) c.5293A>G (p.Asn1765Asp) c.5239A>G (p.Asn1747Asp) c.5131A>G (p.Asn1711Asp) c.5194A>G (p.Asn1732Asp) c.5164A>G (p.Asn1722Asp) c.5236A>G (p.Asn1746Asp) | |
| 3 | g.38551079T>G | CA352141618 | SCN5A | c.5290A>C (p.Asn1764His) c.5293A>C (p.Asn1765His) c.5239A>C (p.Asn1747His) c.5131A>C (p.Asn1711His) c.5194A>C (p.Asn1732His) c.5164A>C (p.Asn1722His) c.5236A>C (p.Asn1746His) | |
| 3 | g.38551080G>A | CA433332111 | SCN5A | c.5289C>T (p.Val1763=) c.5292C>T (p.Val1764=) c.5238C>T (p.Val1746=) c.5130C>T (p.Val1710=) c.5193C>T (p.Val1731=) c.5163C>T (p.Val1721=) c.5235C>T (p.Val1745=) | ClinVar dbSNP |
| 3 | g.38551080G>C | CA433332112 | SCN5A | c.5289C>G (p.Val1763=) c.5292C>G (p.Val1764=) c.5238C>G (p.Val1746=) c.5130C>G (p.Val1710=) c.5193C>G (p.Val1731=) c.5163C>G (p.Val1721=) c.5235C>G (p.Val1745=) | |
| 3 | g.38551080G= | CA1358557314 | SCN5A | c.5289C= (p.Val1763=) c.5292C= (p.Val1764=) c.5238C= (p.Val1746=) c.5130C= (p.Val1710=) c.5193C= (p.Val1731=) c.5163C= (p.Val1721=) c.5235C= (p.Val1745=) | |
| 3 | g.38551080G>T | CA433332114 | SCN5A | c.5289C>A (p.Val1763=) c.5292C>A (p.Val1764=) c.5238C>A (p.Val1746=) c.5130C>A (p.Val1710=) c.5193C>A (p.Val1731=) c.5163C>A (p.Val1721=) c.5235C>A (p.Val1745=) | |
| 3 | g.38551081A>C | CA352141623 | SCN5A | c.5288T>G (p.Val1763Gly) c.5291T>G (p.Val1764Gly) c.5237T>G (p.Val1746Gly) c.5129T>G (p.Val1710Gly) c.5192T>G (p.Val1731Gly) c.5162T>G (p.Val1721Gly) c.5234T>G (p.Val1745Gly) | |
| 3 | g.38551081A>G | CA352141622 | SCN5A | c.5288T>C (p.Val1763Ala) c.5291T>C (p.Val1764Ala) c.5237T>C (p.Val1746Ala) c.5129T>C (p.Val1710Ala) c.5192T>C (p.Val1731Ala) c.5162T>C (p.Val1721Ala) c.5234T>C (p.Val1745Ala) | |
| 3 | g.38551081A>T | CA352141620 | SCN5A | c.5288T>A (p.Val1763Asp) c.5291T>A (p.Val1764Asp) c.5237T>A (p.Val1746Asp) c.5129T>A (p.Val1710Asp) c.5192T>A (p.Val1731Asp) c.5162T>A (p.Val1721Asp) c.5234T>A (p.Val1745Asp) | |
| 3 | g.38551082C>A | CA019066 | SCN5A | c.5287G>T (p.Val1763Phe) c.5290G>T (p.Val1764Phe) c.5236G>T (p.Val1746Phe) c.5128G>T (p.Val1710Phe) c.5191G>T (p.Val1731Phe) c.5161G>T (p.Val1721Phe) c.5233G>T (p.Val1745Phe) | ClinVar dbSNP |
| 3 | g.38551082C= | CA1358557316 | SCN5A | c.5287G= (p.Val1763=) c.5290G= (p.Val1764=) c.5236G= (p.Val1746=) c.5128G= (p.Val1710=) c.5191G= (p.Val1731=) c.5161G= (p.Val1721=) c.5233G= (p.Val1745=) | |
| 3 | g.38551082C>G | CA352141625 | SCN5A | c.5287G>C (p.Val1763Leu) c.5290G>C (p.Val1764Leu) c.5236G>C (p.Val1746Leu) c.5128G>C (p.Val1710Leu) c.5191G>C (p.Val1731Leu) c.5161G>C (p.Val1721Leu) c.5233G>C (p.Val1745Leu) | gnomAD v4 |
| 3 | g.38551082C>T | CA352141627 | SCN5A | c.5287G>A (p.Val1763Ile) c.5290G>A (p.Val1764Ile) c.5236G>A (p.Val1746Ile) c.5128G>A (p.Val1710Ile) c.5191G>A (p.Val1731Ile) c.5161G>A (p.Val1721Ile) c.5233G>A (p.Val1745Ile) | ClinVar |
| 3 | g.38551083del | CA2586965791 | SCN5A | c.5287del (p.Val1763SerfsTer23) c.5290del (p.Val1764SerfsTer23) c.5236del (p.Val1746SerfsTer23) c.5128del (p.Val1710SerfsTer23) c.5191del (p.Val1731SerfsTer23) c.5161del (p.Val1721SerfsTer23) c.5233del (p.Val1745SerfsTer23) | |
| 3 | g.38551083C>A | CA433332123 | SCN5A | c.5286G>T (p.Val1762=) c.5289G>T (p.Val1763=) c.5235G>T (p.Val1745=) c.5127G>T (p.Val1709=) c.5190G>T (p.Val1730=) c.5160G>T (p.Val1720=) c.5232G>T (p.Val1744=) | |
| 3 | g.38551083C>G | CA433332122 | SCN5A | c.5286G>C (p.Val1762=) c.5289G>C (p.Val1763=) c.5235G>C (p.Val1745=) c.5127G>C (p.Val1709=) c.5190G>C (p.Val1730=) c.5160G>C (p.Val1720=) c.5232G>C (p.Val1744=) | |
| 3 | g.38551083C>T | CA433332120 | SCN5A | c.5286G>A (p.Val1762=) c.5289G>A (p.Val1763=) c.5235G>A (p.Val1745=) c.5127G>A (p.Val1709=) c.5190G>A (p.Val1730=) c.5160G>A (p.Val1720=) c.5232G>A (p.Val1744=) | |
| 3 | g.38551084A>C | CA352141628 | SCN5A | c.5285T>G (p.Val1762Gly) c.5288T>G (p.Val1763Gly) c.5234T>G (p.Val1745Gly) c.5126T>G (p.Val1709Gly) c.5189T>G (p.Val1730Gly) c.5159T>G (p.Val1720Gly) c.5231T>G (p.Val1744Gly) | |
| 3 | g.38551084A>G | CA352141631 | SCN5A | c.5285T>C (p.Val1762Ala) c.5288T>C (p.Val1763Ala) c.5234T>C (p.Val1745Ala) c.5126T>C (p.Val1709Ala) c.5189T>C (p.Val1730Ala) c.5159T>C (p.Val1720Ala) c.5231T>C (p.Val1744Ala) | |
| 3 | g.38551084A>T | CA352141632 | SCN5A | c.5285T>A (p.Val1762Glu) c.5288T>A (p.Val1763Glu) c.5234T>A (p.Val1745Glu) c.5126T>A (p.Val1709Glu) c.5189T>A (p.Val1730Glu) c.5159T>A (p.Val1720Glu) c.5231T>A (p.Val1744Glu) | |
| 3 | g.38551085C>A | CA352141634 | SCN5A | c.5284G>T (p.Val1762Leu) c.5287G>T (p.Val1763Leu) c.5233G>T (p.Val1745Leu) c.5125G>T (p.Val1709Leu) c.5188G>T (p.Val1730Leu) c.5158G>T (p.Val1720Leu) c.5230G>T (p.Val1744Leu) | |
| 3 | g.38551085C= | CA1358557319 | SCN5A | c.5284G= (p.Val1762=) c.5287G= (p.Val1763=) c.5233G= (p.Val1745=) c.5125G= (p.Val1709=) c.5188G= (p.Val1730=) c.5158G= (p.Val1720=) c.5230G= (p.Val1744=) | |
| 3 | g.38551085C>G | CA352141636 | SCN5A | c.5284G>C (p.Val1762Leu) c.5287G>C (p.Val1763Leu) c.5233G>C (p.Val1745Leu) c.5125G>C (p.Val1709Leu) c.5188G>C (p.Val1730Leu) c.5158G>C (p.Val1720Leu) c.5230G>C (p.Val1744Leu) | |
| 3 | g.38551085C>T | CA019062 | SCN5A | c.5284G>A (p.Val1762Met) c.5287G>A (p.Val1763Met) c.5233G>A (p.Val1745Met) c.5125G>A (p.Val1709Met) c.5188G>A (p.Val1730Met) c.5158G>A (p.Val1720Met) c.5230G>A (p.Val1744Met) | ClinVar dbSNP |
| 3 | g.38551086G>A | CA064293 | SCN5A | c.5283C>T (p.Ile1761=) c.5286C>T (p.Ile1762=) c.5232C>T (p.Ile1744=) c.5124C>T (p.Ile1708=) c.5187C>T (p.Ile1729=) c.5157C>T (p.Ile1719=) c.5229C>T (p.Ile1743=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551086G>C | CA352141640 | SCN5A | c.5283C>G (p.Ile1761Met) c.5286C>G (p.Ile1762Met) c.5232C>G (p.Ile1744Met) c.5124C>G (p.Ile1708Met) c.5187C>G (p.Ile1729Met) c.5157C>G (p.Ile1719Met) c.5229C>G (p.Ile1743Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551086G= | CA1358557327 | SCN5A | c.5283C= (p.Ile1761=) c.5286C= (p.Ile1762=) c.5232C= (p.Ile1744=) c.5124C= (p.Ile1708=) c.5187C= (p.Ile1729=) c.5157C= (p.Ile1719=) c.5229C= (p.Ile1743=) | |
| 3 | g.38551086G>T | CA064288 | SCN5A | c.5283C>A (p.Ile1761=) c.5286C>A (p.Ile1762=) c.5232C>A (p.Ile1744=) c.5124C>A (p.Ile1708=) c.5187C>A (p.Ile1729=) c.5157C>A (p.Ile1719=) c.5229C>A (p.Ile1743=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551086_38551087delinsGA | CA1358557324 | SCN5A | c.5282_5283delinsTC (p.Ile1761=) c.5285_5286delinsTC (p.Ile1762=) c.5231_5232delinsTC (p.Ile1744=) c.5123_5124delinsTC (p.Ile1708=) c.5186_5187delinsTC (p.Ile1729=) c.5156_5157delinsTC (p.Ile1719=) c.5228_5229delinsTC (p.Ile1743=) | |
| 3 | g.38551087del | CA10588359 | SCN5A | c.5282del (p.Ile1761ThrfsTer25) c.5285del (p.Ile1762ThrfsTer25) c.5231del (p.Ile1744ThrfsTer25) c.5123del (p.Ile1708ThrfsTer25) c.5186del (p.Ile1729ThrfsTer25) c.5156del (p.Ile1719ThrfsTer25) c.5228del (p.Ile1743ThrfsTer25) | ClinVar dbSNP |
| 3 | g.38551087A>C | CA352141642 | SCN5A | c.5282T>G (p.Ile1761Ser) c.5285T>G (p.Ile1762Ser) c.5231T>G (p.Ile1744Ser) c.5123T>G (p.Ile1708Ser) c.5186T>G (p.Ile1729Ser) c.5156T>G (p.Ile1719Ser) c.5228T>G (p.Ile1743Ser) | |
| 3 | g.38551087A>G | CA352141643 | SCN5A | c.5282T>C (p.Ile1761Thr) c.5285T>C (p.Ile1762Thr) c.5231T>C (p.Ile1744Thr) c.5123T>C (p.Ile1708Thr) c.5186T>C (p.Ile1729Thr) c.5156T>C (p.Ile1719Thr) c.5228T>C (p.Ile1743Thr) | |
| 3 | g.38551087A>T | CA352141645 | SCN5A | c.5282T>A (p.Ile1761Asn) c.5285T>A (p.Ile1762Asn) c.5231T>A (p.Ile1744Asn) c.5123T>A (p.Ile1708Asn) c.5186T>A (p.Ile1729Asn) c.5156T>A (p.Ile1719Asn) c.5228T>A (p.Ile1743Asn) | |
| 3 | g.38551088T>A | CA352141653 | SCN5A | c.5281A>T (p.Ile1761Phe) c.5284A>T (p.Ile1762Phe) c.5230A>T (p.Ile1744Phe) c.5122A>T (p.Ile1708Phe) c.5185A>T (p.Ile1729Phe) c.5155A>T (p.Ile1719Phe) c.5227A>T (p.Ile1743Phe) | gnomAD v4 |
| 3 | g.38551088T>C | CA352141649 | SCN5A | c.5281A>G (p.Ile1761Val) c.5284A>G (p.Ile1762Val) c.5230A>G (p.Ile1744Val) c.5122A>G (p.Ile1708Val) c.5185A>G (p.Ile1729Val) c.5155A>G (p.Ile1719Val) c.5227A>G (p.Ile1743Val) | |
| 3 | g.38551088T>G | CA352141651 | SCN5A | c.5281A>C (p.Ile1761Leu) c.5284A>C (p.Ile1762Leu) c.5230A>C (p.Ile1744Leu) c.5122A>C (p.Ile1708Leu) c.5185A>C (p.Ile1729Leu) c.5155A>C (p.Ile1719Leu) c.5227A>C (p.Ile1743Leu) | |
| 3 | g.38551089G>A | CA433332132 | SCN5A | c.5280C>T (p.Leu1760=) c.5283C>T (p.Leu1761=) c.5229C>T (p.Leu1743=) c.5121C>T (p.Leu1707=) c.5184C>T (p.Leu1728=) c.5154C>T (p.Leu1718=) c.5226C>T (p.Leu1742=) | |
| 3 | g.38551089G>C | CA433332131 | SCN5A | c.5280C>G (p.Leu1760=) c.5283C>G (p.Leu1761=) c.5229C>G (p.Leu1743=) c.5121C>G (p.Leu1707=) c.5184C>G (p.Leu1728=) c.5154C>G (p.Leu1718=) c.5226C>G (p.Leu1742=) | |
| 3 | g.38551089G>T | CA433332133 | SCN5A | c.5280C>A (p.Leu1760=) c.5283C>A (p.Leu1761=) c.5229C>A (p.Leu1743=) c.5121C>A (p.Leu1707=) c.5184C>A (p.Leu1728=) c.5154C>A (p.Leu1718=) c.5226C>A (p.Leu1742=) | |
| 3 | g.38551090A= | CA1358557331 | SCN5A | c.5279T= (p.Leu1760=) c.5282T= (p.Leu1761=) c.5228T= (p.Leu1743=) c.5120T= (p.Leu1707=) c.5183T= (p.Leu1728=) c.5153T= (p.Leu1718=) c.5225T= (p.Leu1742=) | |
| 3 | g.38551090A>C | CA352141654 | SCN5A | c.5279T>G (p.Leu1760Arg) c.5282T>G (p.Leu1761Arg) c.5228T>G (p.Leu1743Arg) c.5120T>G (p.Leu1707Arg) c.5183T>G (p.Leu1728Arg) c.5153T>G (p.Leu1718Arg) c.5225T>G (p.Leu1742Arg) | |
| 3 | g.38551090A>G | CA352141656 | SCN5A | c.5279T>C (p.Leu1760Pro) c.5282T>C (p.Leu1761Pro) c.5228T>C (p.Leu1743Pro) c.5120T>C (p.Leu1707Pro) c.5183T>C (p.Leu1728Pro) c.5153T>C (p.Leu1718Pro) c.5225T>C (p.Leu1742Pro) | |
| 3 | g.38551090A>T | CA019056 | SCN5A | c.5279T>A (p.Leu1760His) c.5282T>A (p.Leu1761His) c.5228T>A (p.Leu1743His) c.5120T>A (p.Leu1707His) c.5183T>A (p.Leu1728His) c.5153T>A (p.Leu1718His) c.5225T>A (p.Leu1742His) | ClinVar dbSNP |
| 3 | g.38551094_38551097del | CA2580614202 | SCN5A | c.5276_5279del (p.Phe1759SerfsTer26) c.5279_5282del (p.Phe1760SerfsTer26) c.5225_5228del (p.Phe1742SerfsTer26) c.5117_5120del (p.Phe1706SerfsTer26) c.5180_5183del (p.Phe1727SerfsTer26) c.5150_5153del (p.Phe1717SerfsTer26) c.5222_5225del (p.Phe1741SerfsTer26) | ClinVar |
| 3 | g.38551091G>A | CA019050 | SCN5A | c.5278C>T (p.Leu1760Phe) c.5281C>T (p.Leu1761Phe) c.5227C>T (p.Leu1743Phe) c.5119C>T (p.Leu1707Phe) c.5182C>T (p.Leu1728Phe) c.5152C>T (p.Leu1718Phe) c.5224C>T (p.Leu1742Phe) | ClinVar dbSNP |
| 3 | g.38551091G>C | CA352141660 | SCN5A | c.5278C>G (p.Leu1760Val) c.5281C>G (p.Leu1761Val) c.5227C>G (p.Leu1743Val) c.5119C>G (p.Leu1707Val) c.5182C>G (p.Leu1728Val) c.5152C>G (p.Leu1718Val) c.5224C>G (p.Leu1742Val) | |
| 3 | g.38551091G= | CA1358557335 | SCN5A | c.5278C= (p.Leu1760=) c.5281C= (p.Leu1761=) c.5227C= (p.Leu1743=) c.5119C= (p.Leu1707=) c.5182C= (p.Leu1728=) c.5152C= (p.Leu1718=) c.5224C= (p.Leu1742=) | |
| 3 | g.38551091G>T | CA352141661 | SCN5A | c.5278C>A (p.Leu1760Ile) c.5281C>A (p.Leu1761Ile) c.5227C>A (p.Leu1743Ile) c.5119C>A (p.Leu1707Ile) c.5182C>A (p.Leu1728Ile) c.5152C>A (p.Leu1718Ile) c.5224C>A (p.Leu1742Ile) | |
| 3 | g.38551092dup | CA2586965795 | SCN5A | c.5278dup (p.Leu1760ProfsTer28) c.5281dup (p.Leu1761ProfsTer28) c.5227dup (p.Leu1743ProfsTer28) c.5119dup (p.Leu1707ProfsTer28) c.5182dup (p.Leu1728ProfsTer28) c.5152dup (p.Leu1718ProfsTer28) c.5224dup (p.Leu1742ProfsTer28) | |
| 3 | g.38551092G>A | CA433332135 | SCN5A | c.5277C>T (p.Phe1759=) c.5280C>T (p.Phe1760=) c.5226C>T (p.Phe1742=) c.5118C>T (p.Phe1706=) c.5181C>T (p.Phe1727=) c.5151C>T (p.Phe1717=) c.5223C>T (p.Phe1741=) | |
| 3 | g.38551092G>C | CA352141663 | SCN5A | c.5277C>G (p.Phe1759Leu) c.5280C>G (p.Phe1760Leu) c.5226C>G (p.Phe1742Leu) c.5118C>G (p.Phe1706Leu) c.5181C>G (p.Phe1727Leu) c.5151C>G (p.Phe1717Leu) c.5223C>G (p.Phe1741Leu) | |
| 3 | g.38551092G>T | CA352141665 | SCN5A | c.5277C>A (p.Phe1759Leu) c.5280C>A (p.Phe1760Leu) c.5226C>A (p.Phe1742Leu) c.5118C>A (p.Phe1706Leu) c.5181C>A (p.Phe1727Leu) c.5151C>A (p.Phe1717Leu) c.5223C>A (p.Phe1741Leu) | |
| 3 | g.38551093A= | CA1358557339 | SCN5A | c.5276T= (p.Phe1759=) c.5279T= (p.Phe1760=) c.5225T= (p.Phe1742=) c.5117T= (p.Phe1706=) c.5180T= (p.Phe1727=) c.5150T= (p.Phe1717=) c.5222T= (p.Phe1741=) | |
| 3 | g.38551093A>C | CA352141667 | SCN5A | c.5276T>G (p.Phe1759Cys) c.5279T>G (p.Phe1760Cys) c.5225T>G (p.Phe1742Cys) c.5117T>G (p.Phe1706Cys) c.5180T>G (p.Phe1727Cys) c.5150T>G (p.Phe1717Cys) c.5222T>G (p.Phe1741Cys) | ClinVar dbSNP |
| 3 | g.38551093A>G | CA352141669 | SCN5A | c.5276T>C (p.Phe1759Ser) c.5279T>C (p.Phe1760Ser) c.5225T>C (p.Phe1742Ser) c.5117T>C (p.Phe1706Ser) c.5180T>C (p.Phe1727Ser) c.5150T>C (p.Phe1717Ser) c.5222T>C (p.Phe1741Ser) | |
| 3 | g.38551093A>T | CA352141671 | SCN5A | c.5276T>A (p.Phe1759Tyr) c.5279T>A (p.Phe1760Tyr) c.5225T>A (p.Phe1742Tyr) c.5117T>A (p.Phe1706Tyr) c.5180T>A (p.Phe1727Tyr) c.5150T>A (p.Phe1717Tyr) c.5222T>A (p.Phe1741Tyr) | |
| 3 | g.38551094A>C | CA352141676 | SCN5A | c.5275T>G (p.Phe1759Val) c.5278T>G (p.Phe1760Val) c.5224T>G (p.Phe1742Val) c.5116T>G (p.Phe1706Val) c.5179T>G (p.Phe1727Val) c.5149T>G (p.Phe1717Val) c.5221T>G (p.Phe1741Val) | |
| 3 | g.38551094A>G | CA352141675 | SCN5A | c.5275T>C (p.Phe1759Leu) c.5278T>C (p.Phe1760Leu) c.5224T>C (p.Phe1742Leu) c.5116T>C (p.Phe1706Leu) c.5179T>C (p.Phe1727Leu) c.5149T>C (p.Phe1717Leu) c.5221T>C (p.Phe1741Leu) | |
| 3 | g.38551094A>T | CA352141673 | SCN5A | c.5275T>A (p.Phe1759Ile) c.5278T>A (p.Phe1760Ile) c.5224T>A (p.Phe1742Ile) c.5116T>A (p.Phe1706Ile) c.5179T>A (p.Phe1727Ile) c.5149T>A (p.Phe1717Ile) c.5221T>A (p.Phe1741Ile) | |
| 3 | g.38551095G>A | CA72937994 | SCN5A | c.5274C>T (p.Ser1758=) c.5277C>T (p.Ser1759=) c.5223C>T (p.Ser1741=) c.5115C>T (p.Ser1705=) c.5178C>T (p.Ser1726=) c.5148C>T (p.Ser1716=) c.5220C>T (p.Ser1740=) | dbSNP gnomAD v4 |
| 3 | g.38551095G>C | CA433332137 | SCN5A | c.5274C>G (p.Ser1758=) c.5277C>G (p.Ser1759=) c.5223C>G (p.Ser1741=) c.5115C>G (p.Ser1705=) c.5178C>G (p.Ser1726=) c.5148C>G (p.Ser1716=) c.5220C>G (p.Ser1740=) | |
| 3 | g.38551095G= | CA1358557341 | SCN5A | c.5274C= (p.Ser1758=) c.5277C= (p.Ser1759=) c.5223C= (p.Ser1741=) c.5115C= (p.Ser1705=) c.5178C= (p.Ser1726=) c.5148C= (p.Ser1716=) c.5220C= (p.Ser1740=) | |
| 3 | g.38551095G>T | CA433332139 | SCN5A | c.5274C>A (p.Ser1758=) c.5277C>A (p.Ser1759=) c.5223C>A (p.Ser1741=) c.5115C>A (p.Ser1705=) c.5178C>A (p.Ser1726=) c.5148C>A (p.Ser1716=) c.5220C>A (p.Ser1740=) | |
| 3 | g.38551096G>A | CA352141678 | SCN5A | c.5273C>T (p.Ser1758Phe) c.5276C>T (p.Ser1759Phe) c.5222C>T (p.Ser1741Phe) c.5114C>T (p.Ser1705Phe) c.5177C>T (p.Ser1726Phe) c.5147C>T (p.Ser1716Phe) c.5219C>T (p.Ser1740Phe) | COSMIC COSMIC COSMIC |
| 3 | g.38551096G>C | CA064283 | SCN5A | c.5273C>G (p.Ser1758Cys) c.5276C>G (p.Ser1759Cys) c.5222C>G (p.Ser1741Cys) c.5114C>G (p.Ser1705Cys) c.5177C>G (p.Ser1726Cys) c.5147C>G (p.Ser1716Cys) c.5219C>G (p.Ser1740Cys) | dbSNP ExAC gnomAD v2 |
| 3 | g.38551096G= | CA1358557343 | SCN5A | c.5273C= (p.Ser1758=) c.5276C= (p.Ser1759=) c.5222C= (p.Ser1741=) c.5114C= (p.Ser1705=) c.5177C= (p.Ser1726=) c.5147C= (p.Ser1716=) c.5219C= (p.Ser1740=) | |
| 3 | g.38551096G>T | CA352141681 | SCN5A | c.5273C>A (p.Ser1758Tyr) c.5276C>A (p.Ser1759Tyr) c.5222C>A (p.Ser1741Tyr) c.5114C>A (p.Ser1705Tyr) c.5177C>A (p.Ser1726Tyr) c.5147C>A (p.Ser1716Tyr) c.5219C>A (p.Ser1740Tyr) | |
| 3 | g.38551097A>C | CA352141683 | SCN5A | c.5272T>G (p.Ser1758Ala) c.5275T>G (p.Ser1759Ala) c.5221T>G (p.Ser1741Ala) c.5113T>G (p.Ser1705Ala) c.5176T>G (p.Ser1726Ala) c.5146T>G (p.Ser1716Ala) c.5218T>G (p.Ser1740Ala) | |
| 3 | g.38551097A>G | CA352141685 | SCN5A | c.5272T>C (p.Ser1758Pro) c.5275T>C (p.Ser1759Pro) c.5221T>C (p.Ser1741Pro) c.5113T>C (p.Ser1705Pro) c.5176T>C (p.Ser1726Pro) c.5146T>C (p.Ser1716Pro) c.5218T>C (p.Ser1740Pro) | gnomAD v4 |
| 3 | g.38551097A>T | CA352141687 | SCN5A | c.5272T>A (p.Ser1758Thr) c.5275T>A (p.Ser1759Thr) c.5221T>A (p.Ser1741Thr) c.5113T>A (p.Ser1705Thr) c.5176T>A (p.Ser1726Thr) c.5146T>A (p.Ser1716Thr) c.5218T>A (p.Ser1740Thr) | |
| 3 | g.38551097_38551100delinsAGAT | CA1358557345 | SCN5A | c.5269_5272delinsATCT (p.Ile1757=) c.5272_5275delinsATCT (p.Ile1758=) c.5218_5221delinsATCT (p.Ile1740=) c.5110_5113delinsATCT (p.Ile1704=) c.5173_5176delinsATCT (p.Ile1725=) c.5143_5146delinsATCT (p.Ile1715=) c.5215_5218delinsATCT (p.Ile1739=) | |
| 3 | g.38551098G>A | CA433332143 | SCN5A | c.5271C>T (p.Ile1757=) c.5274C>T (p.Ile1758=) c.5220C>T (p.Ile1740=) c.5112C>T (p.Ile1704=) c.5175C>T (p.Ile1725=) c.5145C>T (p.Ile1715=) c.5217C>T (p.Ile1739=) | |
| 3 | g.38551098G>C | CA352141688 | SCN5A | c.5271C>G (p.Ile1757Met) c.5274C>G (p.Ile1758Met) c.5220C>G (p.Ile1740Met) c.5112C>G (p.Ile1704Met) c.5175C>G (p.Ile1725Met) c.5145C>G (p.Ile1715Met) c.5217C>G (p.Ile1739Met) | |
| 3 | g.38551098G>T | CA433332146 | SCN5A | c.5271C>A (p.Ile1757=) c.5274C>A (p.Ile1758=) c.5220C>A (p.Ile1740=) c.5112C>A (p.Ile1704=) c.5175C>A (p.Ile1725=) c.5145C>A (p.Ile1715=) c.5217C>A (p.Ile1739=) | ClinVar gnomAD v4 |
| 3 | g.38551105_38551107del | CA915942425 | SCN5A | c.5269_5271del (p.Ile1757del) c.5272_5274del (p.Ile1758del) c.5218_5220del (p.Ile1740del) c.5110_5112del (p.Ile1704del) c.5173_5175del (p.Ile1725del) c.5143_5145del (p.Ile1715del) c.5215_5217del (p.Ile1739del) | ClinVar dbSNP |
| 3 | g.38551099A>C | CA352141690 | SCN5A | c.5270T>G (p.Ile1757Ser) c.5273T>G (p.Ile1758Ser) c.5219T>G (p.Ile1740Ser) c.5111T>G (p.Ile1704Ser) c.5174T>G (p.Ile1725Ser) c.5144T>G (p.Ile1715Ser) c.5216T>G (p.Ile1739Ser) | |
| 3 | g.38551099A>G | CA352141694 | SCN5A | c.5270T>C (p.Ile1757Thr) c.5273T>C (p.Ile1758Thr) c.5219T>C (p.Ile1740Thr) c.5111T>C (p.Ile1704Thr) c.5174T>C (p.Ile1725Thr) c.5144T>C (p.Ile1715Thr) c.5216T>C (p.Ile1739Thr) | |
| 3 | g.38551099A>T | CA352141692 | SCN5A | c.5270T>A (p.Ile1757Asn) c.5273T>A (p.Ile1758Asn) c.5219T>A (p.Ile1740Asn) c.5111T>A (p.Ile1704Asn) c.5174T>A (p.Ile1725Asn) c.5144T>A (p.Ile1715Asn) c.5216T>A (p.Ile1739Asn) | |
| 3 | g.38551100T>A | CA352141696 | SCN5A | c.5269A>T (p.Ile1757Phe) c.5272A>T (p.Ile1758Phe) c.5218A>T (p.Ile1740Phe) c.5110A>T (p.Ile1704Phe) c.5173A>T (p.Ile1725Phe) c.5143A>T (p.Ile1715Phe) c.5215A>T (p.Ile1739Phe) | |
| 3 | g.38551100T>C | CA352141697 | SCN5A | c.5269A>G (p.Ile1757Val) c.5272A>G (p.Ile1758Val) c.5218A>G (p.Ile1740Val) c.5110A>G (p.Ile1704Val) c.5173A>G (p.Ile1725Val) c.5143A>G (p.Ile1715Val) c.5215A>G (p.Ile1739Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551100T>G | CA352141699 | SCN5A | c.5269A>C (p.Ile1757Leu) c.5272A>C (p.Ile1758Leu) c.5218A>C (p.Ile1740Leu) c.5110A>C (p.Ile1704Leu) c.5173A>C (p.Ile1725Leu) c.5143A>C (p.Ile1715Leu) c.5215A>C (p.Ile1739Leu) | |
| 3 | g.38551100T= | CA1358557350 | SCN5A | c.5269A= (p.Ile1757=) c.5272A= (p.Ile1758=) c.5218A= (p.Ile1740=) c.5110A= (p.Ile1704=) c.5173A= (p.Ile1725=) c.5143A= (p.Ile1715=) c.5215A= (p.Ile1739=) | |
| 3 | g.38551101del | CA2586965799 | SCN5A | c.5268del (p.Ile1757SerfsTer29) c.5271del (p.Ile1758SerfsTer29) c.5217del (p.Ile1740SerfsTer29) c.5109del (p.Ile1704SerfsTer29) c.5172del (p.Ile1725SerfsTer29) c.5142del (p.Ile1715SerfsTer29) c.5214del (p.Ile1739SerfsTer29) | |
| 3 | g.38551101G>A | CA433332150 | SCN5A | c.5268C>T (p.Ile1756=) c.5271C>T (p.Ile1757=) c.5217C>T (p.Ile1739=) c.5109C>T (p.Ile1703=) c.5172C>T (p.Ile1724=) c.5142C>T (p.Ile1714=) c.5214C>T (p.Ile1738=) | gnomAD v4 |
| 3 | g.38551101G>C | CA352141701 | SCN5A | c.5268C>G (p.Ile1756Met) c.5271C>G (p.Ile1757Met) c.5217C>G (p.Ile1739Met) c.5109C>G (p.Ile1703Met) c.5172C>G (p.Ile1724Met) c.5142C>G (p.Ile1714Met) c.5214C>G (p.Ile1738Met) | |
| 3 | g.38551101G>T | CA433332151 | SCN5A | c.5268C>A (p.Ile1756=) c.5271C>A (p.Ile1757=) c.5217C>A (p.Ile1739=) c.5109C>A (p.Ile1703=) c.5172C>A (p.Ile1724=) c.5142C>A (p.Ile1714=) c.5214C>A (p.Ile1738=) | |
| 3 | g.38551102A>C | CA352141703 | SCN5A | c.5267T>G (p.Ile1756Ser) c.5270T>G (p.Ile1757Ser) c.5216T>G (p.Ile1739Ser) c.5108T>G (p.Ile1703Ser) c.5171T>G (p.Ile1724Ser) c.5141T>G (p.Ile1714Ser) c.5213T>G (p.Ile1738Ser) | |
| 3 | g.38551102A>G | CA352141706 | SCN5A | c.5267T>C (p.Ile1756Thr) c.5270T>C (p.Ile1757Thr) c.5216T>C (p.Ile1739Thr) c.5108T>C (p.Ile1703Thr) c.5171T>C (p.Ile1724Thr) c.5141T>C (p.Ile1714Thr) c.5213T>C (p.Ile1738Thr) | |
| 3 | g.38551102A>T | CA352141705 | SCN5A | c.5267T>A (p.Ile1756Asn) c.5270T>A (p.Ile1757Asn) c.5216T>A (p.Ile1739Asn) c.5108T>A (p.Ile1703Asn) c.5171T>A (p.Ile1724Asn) c.5141T>A (p.Ile1714Asn) c.5213T>A (p.Ile1738Asn) | |
| 3 | g.38551102_38551107delinsT | CA2586965801 | SCN5A | c.5262_5267delinsA (p.Tyr1754Ter) c.5265_5270delinsA (p.Tyr1755Ter) c.5211_5216delinsA (p.Tyr1737Ter) c.5103_5108delinsA (p.Tyr1701Ter) c.5166_5171delinsA (p.Tyr1722Ter) c.5136_5141delinsA (p.Tyr1712Ter) c.5208_5213delinsA (p.Tyr1736Ter) | |
| 3 | g.38551103T>A | CA352141709 | SCN5A | c.5266A>T (p.Ile1756Phe) c.5269A>T (p.Ile1757Phe) c.5215A>T (p.Ile1739Phe) c.5107A>T (p.Ile1703Phe) c.5170A>T (p.Ile1724Phe) c.5140A>T (p.Ile1714Phe) c.5212A>T (p.Ile1738Phe) | |
| 3 | g.38551103T>C | CA352141710 | SCN5A | c.5266A>G (p.Ile1756Val) c.5269A>G (p.Ile1757Val) c.5215A>G (p.Ile1739Val) c.5107A>G (p.Ile1703Val) c.5170A>G (p.Ile1724Val) c.5140A>G (p.Ile1714Val) c.5212A>G (p.Ile1738Val) | |
| 3 | g.38551103T>G | CA352141712 | SCN5A | c.5266A>C (p.Ile1756Leu) c.5269A>C (p.Ile1757Leu) c.5215A>C (p.Ile1739Leu) c.5107A>C (p.Ile1703Leu) c.5170A>C (p.Ile1724Leu) c.5140A>C (p.Ile1714Leu) c.5212A>C (p.Ile1738Leu) | |
| 3 | g.38551104G>A | CA433332153 | SCN5A | c.5265C>T (p.Ile1755=) c.5268C>T (p.Ile1756=) c.5214C>T (p.Ile1738=) c.5106C>T (p.Ile1702=) c.5169C>T (p.Ile1723=) c.5139C>T (p.Ile1713=) c.5211C>T (p.Ile1737=) | |
| 3 | g.38551104G>C | CA352141714 | SCN5A | c.5265C>G (p.Ile1755Met) c.5268C>G (p.Ile1756Met) c.5214C>G (p.Ile1738Met) c.5106C>G (p.Ile1702Met) c.5169C>G (p.Ile1723Met) c.5139C>G (p.Ile1713Met) c.5211C>G (p.Ile1737Met) | gnomAD v4 |
| 3 | g.38551104G>T | CA433332155 | SCN5A | c.5265C>A (p.Ile1755=) c.5268C>A (p.Ile1756=) c.5214C>A (p.Ile1738=) c.5106C>A (p.Ile1702=) c.5169C>A (p.Ile1723=) c.5139C>A (p.Ile1713=) c.5211C>A (p.Ile1737=) | gnomAD v4 |
| 3 | g.38551105A>C | CA352141715 | SCN5A | c.5264T>G (p.Ile1755Ser) c.5267T>G (p.Ile1756Ser) c.5213T>G (p.Ile1738Ser) c.5105T>G (p.Ile1702Ser) c.5168T>G (p.Ile1723Ser) c.5138T>G (p.Ile1713Ser) c.5210T>G (p.Ile1737Ser) | |
| 3 | g.38551105A>G | CA352141716 | SCN5A | c.5264T>C (p.Ile1755Thr) c.5267T>C (p.Ile1756Thr) c.5213T>C (p.Ile1738Thr) c.5105T>C (p.Ile1702Thr) c.5168T>C (p.Ile1723Thr) c.5138T>C (p.Ile1713Thr) c.5210T>C (p.Ile1737Thr) | |
| 3 | g.38551105A>T | CA352141717 | SCN5A | c.5264T>A (p.Ile1755Asn) c.5267T>A (p.Ile1756Asn) c.5213T>A (p.Ile1738Asn) c.5105T>A (p.Ile1702Asn) c.5168T>A (p.Ile1723Asn) c.5138T>A (p.Ile1713Asn) c.5210T>A (p.Ile1737Asn) | |
| 3 | g.38551106T>A | CA352141719 | SCN5A | c.5263A>T (p.Ile1755Phe) c.5266A>T (p.Ile1756Phe) c.5212A>T (p.Ile1738Phe) c.5104A>T (p.Ile1702Phe) c.5167A>T (p.Ile1723Phe) c.5137A>T (p.Ile1713Phe) c.5209A>T (p.Ile1737Phe) | |
| 3 | g.38551106T>C | CA352141720 | SCN5A | c.5263A>G (p.Ile1755Val) c.5266A>G (p.Ile1756Val) c.5212A>G (p.Ile1738Val) c.5104A>G (p.Ile1702Val) c.5167A>G (p.Ile1723Val) c.5137A>G (p.Ile1713Val) c.5209A>G (p.Ile1737Val) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551106T>G | CA352141722 | SCN5A | c.5263A>C (p.Ile1755Leu) c.5266A>C (p.Ile1756Leu) c.5212A>C (p.Ile1738Leu) c.5104A>C (p.Ile1702Leu) c.5167A>C (p.Ile1723Leu) c.5137A>C (p.Ile1713Leu) c.5209A>C (p.Ile1737Leu) | |
| 3 | g.38551106T= | CA1358557353 | SCN5A | c.5263A= (p.Ile1755=) c.5266A= (p.Ile1756=) c.5212A= (p.Ile1738=) c.5104A= (p.Ile1702=) c.5167A= (p.Ile1723=) c.5137A= (p.Ile1713=) c.5209A= (p.Ile1737=) | |
| 3 | g.38551107G>A | CA433332159 | SCN5A | c.5262C>T (p.Tyr1754=) c.5265C>T (p.Tyr1755=) c.5211C>T (p.Tyr1737=) c.5103C>T (p.Tyr1701=) c.5166C>T (p.Tyr1722=) c.5136C>T (p.Tyr1712=) c.5208C>T (p.Tyr1736=) | ClinVar dbSNP |
| 3 | g.38551107G>C | CA352141724 | SCN5A | c.5262C>G (p.Tyr1754Ter) c.5265C>G (p.Tyr1755Ter) c.5211C>G (p.Tyr1737Ter) c.5103C>G (p.Tyr1701Ter) c.5166C>G (p.Tyr1722Ter) c.5136C>G (p.Tyr1712Ter) c.5208C>G (p.Tyr1736Ter) | |
| 3 | g.38551107G>T | CA352141726 | SCN5A | c.5262C>A (p.Tyr1754Ter) c.5265C>A (p.Tyr1755Ter) c.5211C>A (p.Tyr1737Ter) c.5103C>A (p.Tyr1701Ter) c.5166C>A (p.Tyr1722Ter) c.5136C>A (p.Tyr1712Ter) c.5208C>A (p.Tyr1736Ter) | |
| 3 | g.38551108T>A | CA352141731 | SCN5A | c.5261A>T (p.Tyr1754Phe) c.5264A>T (p.Tyr1755Phe) c.5210A>T (p.Tyr1737Phe) c.5102A>T (p.Tyr1701Phe) c.5165A>T (p.Tyr1722Phe) c.5135A>T (p.Tyr1712Phe) c.5207A>T (p.Tyr1736Phe) | |
| 3 | g.38551108T>C | CA352141730 | SCN5A | c.5261A>G (p.Tyr1754Cys) c.5264A>G (p.Tyr1755Cys) c.5210A>G (p.Tyr1737Cys) c.5102A>G (p.Tyr1701Cys) c.5165A>G (p.Tyr1722Cys) c.5135A>G (p.Tyr1712Cys) c.5207A>G (p.Tyr1736Cys) | ClinVar |
| 3 | g.38551108T>G | CA352141728 | SCN5A | c.5261A>C (p.Tyr1754Ser) c.5264A>C (p.Tyr1755Ser) c.5210A>C (p.Tyr1737Ser) c.5102A>C (p.Tyr1701Ser) c.5165A>C (p.Tyr1722Ser) c.5135A>C (p.Tyr1712Ser) c.5207A>C (p.Tyr1736Ser) | |
| 3 | g.38551108dup | CA2586965806 | SCN5A | c.5261dup (p.Tyr1754Ter) c.5264dup (p.Tyr1755Ter) c.5210dup (p.Tyr1737Ter) c.5102dup (p.Tyr1701Ter) c.5165dup (p.Tyr1722Ter) c.5135dup (p.Tyr1712Ter) c.5207dup (p.Tyr1736Ter) | |
| 3 | g.38551109A>C | CA352141732 | SCN5A | c.5260T>G (p.Tyr1754Asp) c.5263T>G (p.Tyr1755Asp) c.5209T>G (p.Tyr1737Asp) c.5101T>G (p.Tyr1701Asp) c.5164T>G (p.Tyr1722Asp) c.5134T>G (p.Tyr1712Asp) c.5206T>G (p.Tyr1736Asp) | |
| 3 | g.38551109A>G | CA352141733 | SCN5A | c.5260T>C (p.Tyr1754His) c.5263T>C (p.Tyr1755His) c.5209T>C (p.Tyr1737His) c.5101T>C (p.Tyr1701His) c.5164T>C (p.Tyr1722His) c.5134T>C (p.Tyr1712His) c.5206T>C (p.Tyr1736His) | COSMIC COSMIC COSMIC |
| 3 | g.38551109A>T | CA352141735 | SCN5A | c.5260T>A (p.Tyr1754Asn) c.5263T>A (p.Tyr1755Asn) c.5209T>A (p.Tyr1737Asn) c.5101T>A (p.Tyr1701Asn) c.5164T>A (p.Tyr1722Asn) c.5134T>A (p.Tyr1712Asn) c.5206T>A (p.Tyr1736Asn) | |
| 3 | g.38551110G>A | CA433332169 | SCN5A | c.5259C>T (p.Thr1753=) c.5262C>T (p.Thr1754=) c.5208C>T (p.Thr1736=) c.5100C>T (p.Thr1700=) c.5163C>T (p.Thr1721=) c.5133C>T (p.Thr1711=) c.5205C>T (p.Thr1735=) | ClinVar dbSNP |
| 3 | g.38551110G>C | CA433332166 | SCN5A | c.5259C>G (p.Thr1753=) c.5262C>G (p.Thr1754=) c.5208C>G (p.Thr1736=) c.5100C>G (p.Thr1700=) c.5163C>G (p.Thr1721=) c.5133C>G (p.Thr1711=) c.5205C>G (p.Thr1735=) | gnomAD v4 |
| 3 | g.38551110G>T | CA433332164 | SCN5A | c.5259C>A (p.Thr1753=) c.5262C>A (p.Thr1754=) c.5208C>A (p.Thr1736=) c.5100C>A (p.Thr1700=) c.5163C>A (p.Thr1721=) c.5133C>A (p.Thr1711=) c.5205C>A (p.Thr1735=) | |
| 3 | g.38551111G>A | CA352141738 | SCN5A | c.5258C>T (p.Thr1753Ile) c.5261C>T (p.Thr1754Ile) c.5207C>T (p.Thr1736Ile) c.5099C>T (p.Thr1700Ile) c.5162C>T (p.Thr1721Ile) c.5132C>T (p.Thr1711Ile) c.5204C>T (p.Thr1735Ile) | ClinVar dbSNP |
| 3 | g.38551111G>C | CA352141739 | SCN5A | c.5258C>G (p.Thr1753Ser) c.5261C>G (p.Thr1754Ser) c.5207C>G (p.Thr1736Ser) c.5099C>G (p.Thr1700Ser) c.5162C>G (p.Thr1721Ser) c.5132C>G (p.Thr1711Ser) c.5204C>G (p.Thr1735Ser) | |
| 3 | g.38551111G>T | CA352141741 | SCN5A | c.5258C>A (p.Thr1753Asn) c.5261C>A (p.Thr1754Asn) c.5207C>A (p.Thr1736Asn) c.5099C>A (p.Thr1700Asn) c.5162C>A (p.Thr1721Asn) c.5132C>A (p.Thr1711Asn) c.5204C>A (p.Thr1735Asn) | |
| 3 | g.38551112T>A | CA10582187 | SCN5A | c.5257A>T (p.Thr1753Ser) c.5260A>T (p.Thr1754Ser) c.5206A>T (p.Thr1736Ser) c.5098A>T (p.Thr1700Ser) c.5161A>T (p.Thr1721Ser) c.5131A>T (p.Thr1711Ser) c.5203A>T (p.Thr1735Ser) | ClinVar dbSNP |
| 3 | g.38551112T>C | CA352141745 | SCN5A | c.5257A>G (p.Thr1753Ala) c.5260A>G (p.Thr1754Ala) c.5206A>G (p.Thr1736Ala) c.5098A>G (p.Thr1700Ala) c.5161A>G (p.Thr1721Ala) c.5131A>G (p.Thr1711Ala) c.5203A>G (p.Thr1735Ala) | |
| 3 | g.38551112T>G | CA352141744 | SCN5A | c.5257A>C (p.Thr1753Pro) c.5260A>C (p.Thr1754Pro) c.5206A>C (p.Thr1736Pro) c.5098A>C (p.Thr1700Pro) c.5161A>C (p.Thr1721Pro) c.5131A>C (p.Thr1711Pro) c.5203A>C (p.Thr1735Pro) | |
| 3 | g.38551112T= | CA1358557356 | SCN5A | c.5257A= (p.Thr1753=) c.5260A= (p.Thr1754=) c.5206A= (p.Thr1736=) c.5098A= (p.Thr1700=) c.5161A= (p.Thr1721=) c.5131A= (p.Thr1711=) c.5203A= (p.Thr1735=) | |
| 3 | g.38551113G>A | CA433332177 | SCN5A | c.5256C>T (p.Thr1752=) c.5259C>T (p.Thr1753=) c.5205C>T (p.Thr1735=) c.5097C>T (p.Thr1699=) c.5160C>T (p.Thr1720=) c.5130C>T (p.Thr1710=) c.5202C>T (p.Thr1734=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551113G>C | CA433332176 | SCN5A | c.5256C>G (p.Thr1752=) c.5259C>G (p.Thr1753=) c.5205C>G (p.Thr1735=) c.5097C>G (p.Thr1699=) c.5160C>G (p.Thr1720=) c.5130C>G (p.Thr1710=) c.5202C>G (p.Thr1734=) | gnomAD v4 |
| 3 | g.38551113G= | CA1358557360 | SCN5A | c.5256C= (p.Thr1752=) c.5259C= (p.Thr1753=) c.5205C= (p.Thr1735=) c.5097C= (p.Thr1699=) c.5160C= (p.Thr1720=) c.5130C= (p.Thr1710=) c.5202C= (p.Thr1734=) | |
| 3 | g.38551113G>T | CA433332175 | SCN5A | c.5256C>A (p.Thr1752=) c.5259C>A (p.Thr1753=) c.5205C>A (p.Thr1735=) c.5097C>A (p.Thr1699=) c.5160C>A (p.Thr1720=) c.5130C>A (p.Thr1710=) c.5202C>A (p.Thr1734=) | |
| 3 | g.38551114G>A | CA352141746 | SCN5A | c.5255C>T (p.Thr1752Ile) c.5258C>T (p.Thr1753Ile) c.5204C>T (p.Thr1735Ile) c.5096C>T (p.Thr1699Ile) c.5159C>T (p.Thr1720Ile) c.5129C>T (p.Thr1710Ile) c.5201C>T (p.Thr1734Ile) | |
| 3 | g.38551114G>C | CA352141748 | SCN5A | c.5255C>G (p.Thr1752Ser) c.5258C>G (p.Thr1753Ser) c.5204C>G (p.Thr1735Ser) c.5096C>G (p.Thr1699Ser) c.5159C>G (p.Thr1720Ser) c.5129C>G (p.Thr1710Ser) c.5201C>G (p.Thr1734Ser) | |
| 3 | g.38551114G>T | CA352141749 | SCN5A | c.5255C>A (p.Thr1752Asn) c.5258C>A (p.Thr1753Asn) c.5204C>A (p.Thr1735Asn) c.5096C>A (p.Thr1699Asn) c.5159C>A (p.Thr1720Asn) c.5129C>A (p.Thr1710Asn) c.5201C>A (p.Thr1734Asn) | |
| 3 | g.38551115T>A | CA352141751 | SCN5A | c.5254A>T (p.Thr1752Ser) c.5257A>T (p.Thr1753Ser) c.5203A>T (p.Thr1735Ser) c.5095A>T (p.Thr1699Ser) c.5158A>T (p.Thr1720Ser) c.5128A>T (p.Thr1710Ser) c.5200A>T (p.Thr1734Ser) | |
| 3 | g.38551115T>C | CA352141753 | SCN5A | c.5254A>G (p.Thr1752Ala) c.5257A>G (p.Thr1753Ala) c.5203A>G (p.Thr1735Ala) c.5095A>G (p.Thr1699Ala) c.5158A>G (p.Thr1720Ala) c.5128A>G (p.Thr1710Ala) c.5200A>G (p.Thr1734Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551115T>G | CA352141755 | SCN5A | c.5254A>C (p.Thr1752Pro) c.5257A>C (p.Thr1753Pro) c.5203A>C (p.Thr1735Pro) c.5095A>C (p.Thr1699Pro) c.5158A>C (p.Thr1720Pro) c.5128A>C (p.Thr1710Pro) c.5200A>C (p.Thr1734Pro) | |
| 3 | g.38551115T= | CA1358557362 | SCN5A | c.5254A= (p.Thr1752=) c.5257A= (p.Thr1753=) c.5203A= (p.Thr1735=) c.5095A= (p.Thr1699=) c.5158A= (p.Thr1720=) c.5128A= (p.Thr1710=) c.5200A= (p.Thr1734=) | |
| 3 | g.38551116G>A | CA72938013 | SCN5A | c.5253C>T (p.Phe1751=) c.5256C>T (p.Phe1752=) c.5202C>T (p.Phe1734=) c.5094C>T (p.Phe1698=) c.5157C>T (p.Phe1719=) c.5127C>T (p.Phe1709=) c.5199C>T (p.Phe1733=) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551116G>C | CA352141757 | SCN5A | c.5253C>G (p.Phe1751Leu) c.5256C>G (p.Phe1752Leu) c.5202C>G (p.Phe1734Leu) c.5094C>G (p.Phe1698Leu) c.5157C>G (p.Phe1719Leu) c.5127C>G (p.Phe1709Leu) c.5199C>G (p.Phe1733Leu) | |
| 3 | g.38551116G= | CA1358557369 | SCN5A | c.5253C= (p.Phe1751=) c.5256C= (p.Phe1752=) c.5202C= (p.Phe1734=) c.5094C= (p.Phe1698=) c.5157C= (p.Phe1719=) c.5127C= (p.Phe1709=) c.5199C= (p.Phe1733=) | |
| 3 | g.38551116G>T | CA352141758 | SCN5A | c.5253C>A (p.Phe1751Leu) c.5256C>A (p.Phe1752Leu) c.5202C>A (p.Phe1734Leu) c.5094C>A (p.Phe1698Leu) c.5157C>A (p.Phe1719Leu) c.5127C>A (p.Phe1709Leu) c.5199C>A (p.Phe1733Leu) | |
| 3 | g.38551121_38551123del | CA2580614204 | SCN5A | c.5251_5253del (p.Phe1751del) c.5254_5256del (p.Phe1752del) c.5200_5202del (p.Phe1734del) c.5092_5094del (p.Phe1698del) c.5155_5157del (p.Phe1719del) c.5125_5127del (p.Phe1709del) c.5197_5199del (p.Phe1733del) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551117A>C | CA352141761 | SCN5A | c.5252T>G (p.Phe1751Cys) c.5255T>G (p.Phe1752Cys) c.5201T>G (p.Phe1734Cys) c.5093T>G (p.Phe1698Cys) c.5156T>G (p.Phe1719Cys) c.5126T>G (p.Phe1709Cys) c.5198T>G (p.Phe1733Cys) | |
| 3 | g.38551117A>G | CA352141763 | SCN5A | c.5252T>C (p.Phe1751Ser) c.5255T>C (p.Phe1752Ser) c.5201T>C (p.Phe1734Ser) c.5093T>C (p.Phe1698Ser) c.5156T>C (p.Phe1719Ser) c.5126T>C (p.Phe1709Ser) c.5198T>C (p.Phe1733Ser) | |
| 3 | g.38551117A>T | CA352141765 | SCN5A | c.5252T>A (p.Phe1751Tyr) c.5255T>A (p.Phe1752Tyr) c.5201T>A (p.Phe1734Tyr) c.5093T>A (p.Phe1698Tyr) c.5156T>A (p.Phe1719Tyr) c.5126T>A (p.Phe1709Tyr) c.5198T>A (p.Phe1733Tyr) | |
| 3 | g.38551118A>C | CA352141767 | SCN5A | c.5251T>G (p.Phe1751Val) c.5254T>G (p.Phe1752Val) c.5200T>G (p.Phe1734Val) c.5092T>G (p.Phe1698Val) c.5155T>G (p.Phe1719Val) c.5125T>G (p.Phe1709Val) c.5197T>G (p.Phe1733Val) | ClinVar |
| 3 | g.38551118A>G | CA352141768 | SCN5A | c.5251T>C (p.Phe1751Leu) c.5254T>C (p.Phe1752Leu) c.5200T>C (p.Phe1734Leu) c.5092T>C (p.Phe1698Leu) c.5155T>C (p.Phe1719Leu) c.5125T>C (p.Phe1709Leu) c.5197T>C (p.Phe1733Leu) | |
| 3 | g.38551118A>T | CA352141770 | SCN5A | c.5251T>A (p.Phe1751Ile) c.5254T>A (p.Phe1752Ile) c.5200T>A (p.Phe1734Ile) c.5092T>A (p.Phe1698Ile) c.5155T>A (p.Phe1719Ile) c.5125T>A (p.Phe1709Ile) c.5197T>A (p.Phe1733Ile) | |
| 3 | g.38551119G>A | CA433332193 | SCN5A | c.5250C>T (p.Phe1750=) c.5253C>T (p.Phe1751=) c.5199C>T (p.Phe1733=) c.5091C>T (p.Phe1697=) c.5154C>T (p.Phe1718=) c.5124C>T (p.Phe1708=) c.5196C>T (p.Phe1732=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551119G>C | CA352141773 | SCN5A | c.5250C>G (p.Phe1750Leu) c.5253C>G (p.Phe1751Leu) c.5199C>G (p.Phe1733Leu) c.5091C>G (p.Phe1697Leu) c.5154C>G (p.Phe1718Leu) c.5124C>G (p.Phe1708Leu) c.5196C>G (p.Phe1732Leu) | |
| 3 | g.38551119G= | CA1358557374 | SCN5A | c.5250C= (p.Phe1750=) c.5253C= (p.Phe1751=) c.5199C= (p.Phe1733=) c.5091C= (p.Phe1697=) c.5154C= (p.Phe1718=) c.5124C= (p.Phe1708=) c.5196C= (p.Phe1732=) | |
| 3 | g.38551119G>T | CA352141771 | SCN5A | c.5250C>A (p.Phe1750Leu) c.5253C>A (p.Phe1751Leu) c.5199C>A (p.Phe1733Leu) c.5091C>A (p.Phe1697Leu) c.5154C>A (p.Phe1718Leu) c.5124C>A (p.Phe1708Leu) c.5196C>A (p.Phe1732Leu) | |
| 3 | g.38551120A>C | CA352141774 | SCN5A | c.5249T>G (p.Phe1750Cys) c.5252T>G (p.Phe1751Cys) c.5198T>G (p.Phe1733Cys) c.5090T>G (p.Phe1697Cys) c.5153T>G (p.Phe1718Cys) c.5123T>G (p.Phe1708Cys) c.5195T>G (p.Phe1732Cys) | |
| 3 | g.38551120A>G | CA352141775 | SCN5A | c.5249T>C (p.Phe1750Ser) c.5252T>C (p.Phe1751Ser) c.5198T>C (p.Phe1733Ser) c.5090T>C (p.Phe1697Ser) c.5153T>C (p.Phe1718Ser) c.5123T>C (p.Phe1708Ser) c.5195T>C (p.Phe1732Ser) | |
| 3 | g.38551120A>T | CA352141777 | SCN5A | c.5249T>A (p.Phe1750Tyr) c.5252T>A (p.Phe1751Tyr) c.5198T>A (p.Phe1733Tyr) c.5090T>A (p.Phe1697Tyr) c.5153T>A (p.Phe1718Tyr) c.5123T>A (p.Phe1708Tyr) c.5195T>A (p.Phe1732Tyr) | |
| 3 | g.38551121A>C | CA352141779 | SCN5A | c.5248T>G (p.Phe1750Val) c.5251T>G (p.Phe1751Val) c.5197T>G (p.Phe1733Val) c.5089T>G (p.Phe1697Val) c.5152T>G (p.Phe1718Val) c.5122T>G (p.Phe1708Val) c.5194T>G (p.Phe1732Val) | |
| 3 | g.38551121A>G | CA352141781 | SCN5A | c.5248T>C (p.Phe1750Leu) c.5251T>C (p.Phe1751Leu) c.5197T>C (p.Phe1733Leu) c.5089T>C (p.Phe1697Leu) c.5152T>C (p.Phe1718Leu) c.5122T>C (p.Phe1708Leu) c.5194T>C (p.Phe1732Leu) | |
| 3 | g.38551121A>T | CA352141783 | SCN5A | c.5248T>A (p.Phe1750Ile) c.5251T>A (p.Phe1751Ile) c.5197T>A (p.Phe1733Ile) c.5089T>A (p.Phe1697Ile) c.5152T>A (p.Phe1718Ile) c.5122T>A (p.Phe1708Ile) c.5194T>A (p.Phe1732Ile) | |
| 3 | g.38551122G>A | CA433332202 | SCN5A | c.5247C>T (p.Leu1749=) c.5250C>T (p.Leu1750=) c.5196C>T (p.Leu1732=) c.5088C>T (p.Leu1696=) c.5151C>T (p.Leu1717=) c.5121C>T (p.Leu1707=) c.5193C>T (p.Leu1731=) | |
| 3 | g.38551122G>C | CA433332203 | SCN5A | c.5247C>G (p.Leu1749=) c.5250C>G (p.Leu1750=) c.5196C>G (p.Leu1732=) c.5088C>G (p.Leu1696=) c.5151C>G (p.Leu1717=) c.5121C>G (p.Leu1707=) c.5193C>G (p.Leu1731=) | |
| 3 | g.38551122G>T | CA433332204 | SCN5A | c.5247C>A (p.Leu1749=) c.5250C>A (p.Leu1750=) c.5196C>A (p.Leu1732=) c.5088C>A (p.Leu1696=) c.5151C>A (p.Leu1717=) c.5121C>A (p.Leu1707=) c.5193C>A (p.Leu1731=) | ClinVar |
| 3 | g.38551123A>C | CA352141785 | SCN5A | c.5246T>G (p.Leu1749Arg) c.5249T>G (p.Leu1750Arg) c.5195T>G (p.Leu1732Arg) c.5087T>G (p.Leu1696Arg) c.5150T>G (p.Leu1717Arg) c.5120T>G (p.Leu1707Arg) c.5192T>G (p.Leu1731Arg) | |
| 3 | g.38551123A>G | CA352141789 | SCN5A | c.5246T>C (p.Leu1749Pro) c.5249T>C (p.Leu1750Pro) c.5195T>C (p.Leu1732Pro) c.5087T>C (p.Leu1696Pro) c.5150T>C (p.Leu1717Pro) c.5120T>C (p.Leu1707Pro) c.5192T>C (p.Leu1731Pro) | |
| 3 | g.38551123A>T | CA352141787 | SCN5A | c.5246T>A (p.Leu1749His) c.5249T>A (p.Leu1750His) c.5195T>A (p.Leu1732His) c.5087T>A (p.Leu1696His) c.5150T>A (p.Leu1717His) c.5120T>A (p.Leu1707His) c.5192T>A (p.Leu1731His) | |
| 3 | g.38551124G>A | CA352141791 | SCN5A | c.5245C>T (p.Leu1749Phe) c.5248C>T (p.Leu1750Phe) c.5194C>T (p.Leu1732Phe) c.5086C>T (p.Leu1696Phe) c.5149C>T (p.Leu1717Phe) c.5119C>T (p.Leu1707Phe) c.5191C>T (p.Leu1731Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551124G>C | CA352141793 | SCN5A | c.5245C>G (p.Leu1749Val) c.5248C>G (p.Leu1750Val) c.5194C>G (p.Leu1732Val) c.5086C>G (p.Leu1696Val) c.5149C>G (p.Leu1717Val) c.5119C>G (p.Leu1707Val) c.5191C>G (p.Leu1731Val) | |
| 3 | g.38551124G= | CA1358557377 | SCN5A | c.5245C= (p.Leu1749=) c.5248C= (p.Leu1750=) c.5194C= (p.Leu1732=) c.5086C= (p.Leu1696=) c.5149C= (p.Leu1717=) c.5119C= (p.Leu1707=) c.5191C= (p.Leu1731=) | |
| 3 | g.38551124G>T | CA72938014 | SCN5A | c.5245C>A (p.Leu1749Ile) c.5248C>A (p.Leu1750Ile) c.5194C>A (p.Leu1732Ile) c.5086C>A (p.Leu1696Ile) c.5149C>A (p.Leu1717Ile) c.5119C>A (p.Leu1707Ile) c.5191C>A (p.Leu1731Ile) | dbSNP gnomAD v4 |
| 3 | g.38551125G>A | CA433332209 | SCN5A | c.5244C>T (p.Ile1748=) c.5247C>T (p.Ile1749=) c.5193C>T (p.Ile1731=) c.5085C>T (p.Ile1695=) c.5148C>T (p.Ile1716=) c.5118C>T (p.Ile1706=) c.5190C>T (p.Ile1730=) | |
| 3 | g.38551125G>C | CA352141795 | SCN5A | c.5244C>G (p.Ile1748Met) c.5247C>G (p.Ile1749Met) c.5193C>G (p.Ile1731Met) c.5085C>G (p.Ile1695Met) c.5148C>G (p.Ile1716Met) c.5118C>G (p.Ile1706Met) c.5190C>G (p.Ile1730Met) | |
| 3 | g.38551125G>T | CA433332210 | SCN5A | c.5244C>A (p.Ile1748=) c.5247C>A (p.Ile1749=) c.5193C>A (p.Ile1731=) c.5085C>A (p.Ile1695=) c.5148C>A (p.Ile1716=) c.5118C>A (p.Ile1706=) c.5190C>A (p.Ile1730=) | |
| 3 | g.38551126A>C | CA352141797 | SCN5A | c.5243T>G (p.Ile1748Ser) c.5246T>G (p.Ile1749Ser) c.5192T>G (p.Ile1731Ser) c.5084T>G (p.Ile1695Ser) c.5147T>G (p.Ile1716Ser) c.5117T>G (p.Ile1706Ser) c.5189T>G (p.Ile1730Ser) | |
| 3 | g.38551126A>G | CA352141799 | SCN5A | c.5243T>C (p.Ile1748Thr) c.5246T>C (p.Ile1749Thr) c.5192T>C (p.Ile1731Thr) c.5084T>C (p.Ile1695Thr) c.5147T>C (p.Ile1716Thr) c.5117T>C (p.Ile1706Thr) c.5189T>C (p.Ile1730Thr) | |
| 3 | g.38551126A>T | CA352141801 | SCN5A | c.5243T>A (p.Ile1748Asn) c.5246T>A (p.Ile1749Asn) c.5192T>A (p.Ile1731Asn) c.5084T>A (p.Ile1695Asn) c.5147T>A (p.Ile1716Asn) c.5117T>A (p.Ile1706Asn) c.5189T>A (p.Ile1730Asn) | |
| 3 | g.38551127T>A | CA352141803 | SCN5A | c.5242A>T (p.Ile1748Phe) c.5245A>T (p.Ile1749Phe) c.5191A>T (p.Ile1731Phe) c.5083A>T (p.Ile1695Phe) c.5146A>T (p.Ile1716Phe) c.5116A>T (p.Ile1706Phe) c.5188A>T (p.Ile1730Phe) | |
| 3 | g.38551127T>C | CA352141805 | SCN5A | c.5242A>G (p.Ile1748Val) c.5245A>G (p.Ile1749Val) c.5191A>G (p.Ile1731Val) c.5083A>G (p.Ile1695Val) c.5146A>G (p.Ile1716Val) c.5116A>G (p.Ile1706Val) c.5188A>G (p.Ile1730Val) | dbSNP |
| 3 | g.38551127T>G | CA352141807 | SCN5A | c.5242A>C (p.Ile1748Leu) c.5245A>C (p.Ile1749Leu) c.5191A>C (p.Ile1731Leu) c.5083A>C (p.Ile1695Leu) c.5146A>C (p.Ile1716Leu) c.5116A>C (p.Ile1706Leu) c.5188A>C (p.Ile1730Leu) | |
| 3 | g.38551127T= | CA1358557380 | SCN5A | c.5242A= (p.Ile1748=) c.5245A= (p.Ile1749=) c.5191A= (p.Ile1731=) c.5083A= (p.Ile1695=) c.5146A= (p.Ile1716=) c.5116A= (p.Ile1706=) c.5188A= (p.Ile1730=) | |
| 3 | g.38551128G>A | CA433332217 | SCN5A | c.5241C>T (p.Gly1747=) c.5244C>T (p.Gly1748=) c.5190C>T (p.Gly1730=) c.5082C>T (p.Gly1694=) c.5145C>T (p.Gly1715=) c.5115C>T (p.Gly1705=) c.5187C>T (p.Gly1729=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551128G>C | CA433332219 | SCN5A | c.5241C>G (p.Gly1747=) c.5244C>G (p.Gly1748=) c.5190C>G (p.Gly1730=) c.5082C>G (p.Gly1694=) c.5145C>G (p.Gly1715=) c.5115C>G (p.Gly1705=) c.5187C>G (p.Gly1729=) | |
| 3 | g.38551128G= | CA1358557383 | SCN5A | c.5241C= (p.Gly1747=) c.5244C= (p.Gly1748=) c.5190C= (p.Gly1730=) c.5082C= (p.Gly1694=) c.5145C= (p.Gly1715=) c.5115C= (p.Gly1705=) c.5187C= (p.Gly1729=) | |
| 3 | g.38551128G>T | CA72938018 | SCN5A | c.5241C>A (p.Gly1747=) c.5244C>A (p.Gly1748=) c.5190C>A (p.Gly1730=) c.5082C>A (p.Gly1694=) c.5145C>A (p.Gly1715=) c.5115C>A (p.Gly1705=) c.5187C>A (p.Gly1729=) | dbSNP |
| 3 | g.38551128_38551130del | CA2586965811 | SCN5A | c.5239_5241del (p.Gly1747del) c.5242_5244del (p.Gly1748del) c.5188_5190del (p.Gly1730del) c.5080_5082del (p.Gly1694del) c.5143_5145del (p.Gly1715del) c.5113_5115del (p.Gly1705del) c.5185_5187del (p.Gly1729del) | |
| 3 | g.38551129C>A | CA352141809 | SCN5A | c.5240G>T (p.Gly1747Val) c.5243G>T (p.Gly1748Val) c.5189G>T (p.Gly1730Val) c.5081G>T (p.Gly1694Val) c.5144G>T (p.Gly1715Val) c.5114G>T (p.Gly1705Val) c.5186G>T (p.Gly1729Val) | ClinVar dbSNP |
| 3 | g.38551129C= | CA1358557386 | SCN5A | c.5240G= (p.Gly1747=) c.5243G= (p.Gly1748=) c.5189G= (p.Gly1730=) c.5081G= (p.Gly1694=) c.5144G= (p.Gly1715=) c.5114G= (p.Gly1705=) c.5186G= (p.Gly1729=) | |
| 3 | g.38551129C>G | CA352141811 | SCN5A | c.5240G>C (p.Gly1747Ala) c.5243G>C (p.Gly1748Ala) c.5189G>C (p.Gly1730Ala) c.5081G>C (p.Gly1694Ala) c.5144G>C (p.Gly1715Ala) c.5114G>C (p.Gly1705Ala) c.5186G>C (p.Gly1729Ala) | |
| 3 | g.38551129C>T | CA352141812 | SCN5A | c.5240G>A (p.Gly1747Asp) c.5243G>A (p.Gly1748Asp) c.5189G>A (p.Gly1730Asp) c.5081G>A (p.Gly1694Asp) c.5144G>A (p.Gly1715Asp) c.5114G>A (p.Gly1705Asp) c.5186G>A (p.Gly1729Asp) | dbSNP |
| 3 | g.38551130C>A | CA352141819 | SCN5A | c.5239G>T (p.Gly1747Cys) c.5242G>T (p.Gly1748Cys) c.5188G>T (p.Gly1730Cys) c.5080G>T (p.Gly1694Cys) c.5143G>T (p.Gly1715Cys) c.5113G>T (p.Gly1705Cys) c.5185G>T (p.Gly1729Cys) | |
| 3 | g.38551130C>G | CA352141815 | SCN5A | c.5239G>C (p.Gly1747Arg) c.5242G>C (p.Gly1748Arg) c.5188G>C (p.Gly1730Arg) c.5080G>C (p.Gly1694Arg) c.5143G>C (p.Gly1715Arg) c.5113G>C (p.Gly1705Arg) c.5185G>C (p.Gly1729Arg) | |
| 3 | g.38551130C>T | CA352141817 | SCN5A | c.5239G>A (p.Gly1747Ser) c.5242G>A (p.Gly1748Ser) c.5188G>A (p.Gly1730Ser) c.5080G>A (p.Gly1694Ser) c.5143G>A (p.Gly1715Ser) c.5113G>A (p.Gly1705Ser) c.5185G>A (p.Gly1729Ser) | gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551131C>A | CA433332225 | SCN5A | c.5238G>T (p.Val1746=) c.5241G>T (p.Val1747=) c.5187G>T (p.Val1729=) c.5079G>T (p.Val1693=) c.5142G>T (p.Val1714=) c.5112G>T (p.Val1704=) c.5184G>T (p.Val1728=) | gnomAD v4 |
| 3 | g.38551131C>G | CA433332228 | SCN5A | c.5238G>C (p.Val1746=) c.5241G>C (p.Val1747=) c.5187G>C (p.Val1729=) c.5079G>C (p.Val1693=) c.5142G>C (p.Val1714=) c.5112G>C (p.Val1704=) c.5184G>C (p.Val1728=) | |
| 3 | g.38551131C>T | CA433332227 | SCN5A | c.5238G>A (p.Val1746=) c.5241G>A (p.Val1747=) c.5187G>A (p.Val1729=) c.5079G>A (p.Val1693=) c.5142G>A (p.Val1714=) c.5112G>A (p.Val1704=) c.5184G>A (p.Val1728=) | ClinVar gnomAD v4 |
| 3 | g.38551132A= | CA1358557390 | SCN5A | c.5237T= (p.Val1746=) c.5240T= (p.Val1747=) c.5186T= (p.Val1729=) c.5078T= (p.Val1693=) c.5141T= (p.Val1714=) c.5111T= (p.Val1704=) c.5183T= (p.Val1728=) | |
| 3 | g.38551132A>C | CA352141820 | SCN5A | c.5237T>G (p.Val1746Gly) c.5240T>G (p.Val1747Gly) c.5186T>G (p.Val1729Gly) c.5078T>G (p.Val1693Gly) c.5141T>G (p.Val1714Gly) c.5111T>G (p.Val1704Gly) c.5183T>G (p.Val1728Gly) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551132A>G | CA352141822 | SCN5A | c.5237T>C (p.Val1746Ala) c.5240T>C (p.Val1747Ala) c.5186T>C (p.Val1729Ala) c.5078T>C (p.Val1693Ala) c.5141T>C (p.Val1714Ala) c.5111T>C (p.Val1704Ala) c.5183T>C (p.Val1728Ala) | |
| 3 | g.38551132A>T | CA352141823 | SCN5A | c.5237T>A (p.Val1746Glu) c.5240T>A (p.Val1747Glu) c.5186T>A (p.Val1729Glu) c.5078T>A (p.Val1693Glu) c.5141T>A (p.Val1714Glu) c.5111T>A (p.Val1704Glu) c.5183T>A (p.Val1728Glu) | |
| 3 | g.38551133C>A | CA352141826 | SCN5A | c.5236G>T (p.Val1746Leu) c.5239G>T (p.Val1747Leu) c.5185G>T (p.Val1729Leu) c.5077G>T (p.Val1693Leu) c.5140G>T (p.Val1714Leu) c.5110G>T (p.Val1704Leu) c.5182G>T (p.Val1728Leu) | ClinVar dbSNP |
| 3 | g.38551133C= | CA1358557394 | SCN5A | c.5236G= (p.Val1746=) c.5239G= (p.Val1747=) c.5185G= (p.Val1729=) c.5077G= (p.Val1693=) c.5140G= (p.Val1714=) c.5110G= (p.Val1704=) c.5182G= (p.Val1728=) | |
| 3 | g.38551133C>G | CA352141828 | SCN5A | c.5236G>C (p.Val1746Leu) c.5239G>C (p.Val1747Leu) c.5185G>C (p.Val1729Leu) c.5077G>C (p.Val1693Leu) c.5140G>C (p.Val1714Leu) c.5110G>C (p.Val1704Leu) c.5182G>C (p.Val1728Leu) | gnomAD v4 |
| 3 | g.38551133C>T | CA019040 | SCN5A | c.5236G>A (p.Val1746Met) c.5239G>A (p.Val1747Met) c.5185G>A (p.Val1729Met) c.5077G>A (p.Val1693Met) c.5140G>A (p.Val1714Met) c.5110G>A (p.Val1704Met) c.5182G>A (p.Val1728Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551134G>A | CA433332238 | SCN5A | c.5235C>T (p.Ala1745=) c.5238C>T (p.Ala1746=) c.5184C>T (p.Ala1728=) c.5076C>T (p.Ala1692=) c.5139C>T (p.Ala1713=) c.5109C>T (p.Ala1703=) c.5181C>T (p.Ala1727=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551134G>C | CA433332239 | SCN5A | c.5235C>G (p.Ala1745=) c.5238C>G (p.Ala1746=) c.5184C>G (p.Ala1728=) c.5076C>G (p.Ala1692=) c.5139C>G (p.Ala1713=) c.5109C>G (p.Ala1703=) c.5181C>G (p.Ala1727=) | |
| 3 | g.38551134G= | CA1358557400 | SCN5A | c.5235C= (p.Ala1745=) c.5238C= (p.Ala1746=) c.5184C= (p.Ala1728=) c.5076C= (p.Ala1692=) c.5139C= (p.Ala1713=) c.5109C= (p.Ala1703=) c.5181C= (p.Ala1727=) | |
| 3 | g.38551134G>T | CA433332240 | SCN5A | c.5235C>A (p.Ala1745=) c.5238C>A (p.Ala1746=) c.5184C>A (p.Ala1728=) c.5076C>A (p.Ala1692=) c.5139C>A (p.Ala1713=) c.5109C>A (p.Ala1703=) c.5181C>A (p.Ala1727=) | |
| 3 | g.38551135G>A | CA064275 | SCN5A | c.5234C>T (p.Ala1745Val) c.5237C>T (p.Ala1746Val) c.5183C>T (p.Ala1728Val) c.5075C>T (p.Ala1692Val) c.5138C>T (p.Ala1713Val) c.5108C>T (p.Ala1703Val) c.5180C>T (p.Ala1727Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551135G>C | CA352141832 | SCN5A | c.5234C>G (p.Ala1745Gly) c.5237C>G (p.Ala1746Gly) c.5183C>G (p.Ala1728Gly) c.5075C>G (p.Ala1692Gly) c.5138C>G (p.Ala1713Gly) c.5108C>G (p.Ala1703Gly) c.5180C>G (p.Ala1727Gly) | |
| 3 | g.38551135G= | CA1358557404 | SCN5A | c.5234C= (p.Ala1745=) c.5237C= (p.Ala1746=) c.5183C= (p.Ala1728=) c.5075C= (p.Ala1692=) c.5138C= (p.Ala1713=) c.5108C= (p.Ala1703=) c.5180C= (p.Ala1727=) | |
| 3 | g.38551135G>T | CA352141833 | SCN5A | c.5234C>A (p.Ala1745Asp) c.5237C>A (p.Ala1746Asp) c.5183C>A (p.Ala1728Asp) c.5075C>A (p.Ala1692Asp) c.5138C>A (p.Ala1713Asp) c.5108C>A (p.Ala1703Asp) c.5180C>A (p.Ala1727Asp) | |
| 3 | g.38551136C>A | CA352141836 | SCN5A | c.5233G>T (p.Ala1745Ser) c.5236G>T (p.Ala1746Ser) c.5182G>T (p.Ala1728Ser) c.5074G>T (p.Ala1692Ser) c.5137G>T (p.Ala1713Ser) c.5107G>T (p.Ala1703Ser) c.5179G>T (p.Ala1727Ser) | |
| 3 | g.38551136C= | CA1358557415 | SCN5A | c.5233G= (p.Ala1745=) c.5236G= (p.Ala1746=) c.5182G= (p.Ala1728=) c.5074G= (p.Ala1692=) c.5137G= (p.Ala1713=) c.5107G= (p.Ala1703=) c.5179G= (p.Ala1727=) | |
| 3 | g.38551136C>G | CA352141837 | SCN5A | c.5233G>C (p.Ala1745Pro) c.5236G>C (p.Ala1746Pro) c.5182G>C (p.Ala1728Pro) c.5074G>C (p.Ala1692Pro) c.5137G>C (p.Ala1713Pro) c.5107G>C (p.Ala1703Pro) c.5179G>C (p.Ala1727Pro) | ClinVar dbSNP |
| 3 | g.38551136C>T | CA019035 | SCN5A | c.5233G>A (p.Ala1745Thr) c.5236G>A (p.Ala1746Thr) c.5182G>A (p.Ala1728Thr) c.5074G>A (p.Ala1692Thr) c.5137G>A (p.Ala1713Thr) c.5107G>A (p.Ala1703Thr) c.5179G>A (p.Ala1727Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551137T>A | CA433332243 | SCN5A | c.5232A>T (p.Pro1744=) c.5235A>T (p.Pro1745=) c.5181A>T (p.Pro1727=) c.5073A>T (p.Pro1691=) c.5136A>T (p.Pro1712=) c.5106A>T (p.Pro1702=) c.5178A>T (p.Pro1726=) | ClinVar |
| 3 | g.38551137T>C | CA433332246 | SCN5A | c.5232A>G (p.Pro1744=) c.5235A>G (p.Pro1745=) c.5181A>G (p.Pro1727=) c.5073A>G (p.Pro1691=) c.5136A>G (p.Pro1712=) c.5106A>G (p.Pro1702=) c.5178A>G (p.Pro1726=) | |
| 3 | g.38551137T>G | CA433332249 | SCN5A | c.5232A>C (p.Pro1744=) c.5235A>C (p.Pro1745=) c.5181A>C (p.Pro1727=) c.5073A>C (p.Pro1691=) c.5136A>C (p.Pro1712=) c.5106A>C (p.Pro1702=) c.5178A>C (p.Pro1726=) | |
| 3 | g.38551138G>A | CA352141840 | SCN5A | c.5231C>T (p.Pro1744Leu) c.5234C>T (p.Pro1745Leu) c.5180C>T (p.Pro1727Leu) c.5072C>T (p.Pro1691Leu) c.5135C>T (p.Pro1712Leu) c.5105C>T (p.Pro1702Leu) c.5177C>T (p.Pro1726Leu) | |
| 3 | g.38551138G>C | CA352141843 | SCN5A | c.5231C>G (p.Pro1744Arg) c.5234C>G (p.Pro1745Arg) c.5180C>G (p.Pro1727Arg) c.5072C>G (p.Pro1691Arg) c.5135C>G (p.Pro1712Arg) c.5105C>G (p.Pro1702Arg) c.5177C>G (p.Pro1726Arg) | |
| 3 | g.38551138G>T | CA352141841 | SCN5A | c.5231C>A (p.Pro1744Gln) c.5234C>A (p.Pro1745Gln) c.5180C>A (p.Pro1727Gln) c.5072C>A (p.Pro1691Gln) c.5135C>A (p.Pro1712Gln) c.5105C>A (p.Pro1702Gln) c.5177C>A (p.Pro1726Gln) | |
| 3 | g.38551139G>A | CA352141846 | SCN5A | c.5230C>T (p.Pro1744Ser) c.5233C>T (p.Pro1745Ser) c.5179C>T (p.Pro1727Ser) c.5071C>T (p.Pro1691Ser) c.5134C>T (p.Pro1712Ser) c.5104C>T (p.Pro1702Ser) c.5176C>T (p.Pro1726Ser) | |
| 3 | g.38551139G>C | CA352141849 | SCN5A | c.5230C>G (p.Pro1744Ala) c.5233C>G (p.Pro1745Ala) c.5179C>G (p.Pro1727Ala) c.5071C>G (p.Pro1691Ala) c.5134C>G (p.Pro1712Ala) c.5104C>G (p.Pro1702Ala) c.5176C>G (p.Pro1726Ala) | ClinVar gnomAD v4 |
| 3 | g.38551139G>T | CA352141847 | SCN5A | c.5230C>A (p.Pro1744Thr) c.5233C>A (p.Pro1745Thr) c.5179C>A (p.Pro1727Thr) c.5071C>A (p.Pro1691Thr) c.5134C>A (p.Pro1712Thr) c.5104C>A (p.Pro1702Thr) c.5176C>A (p.Pro1726Thr) | |
| 3 | g.38551140G>A | CA433332253 | SCN5A | c.5229C>T (p.Ser1743=) c.5232C>T (p.Ser1744=) c.5178C>T (p.Ser1726=) c.5070C>T (p.Ser1690=) c.5133C>T (p.Ser1711=) c.5103C>T (p.Ser1701=) c.5175C>T (p.Ser1725=) | |
| 3 | g.38551140G>C | CA352141851 | SCN5A | c.5229C>G (p.Ser1743Arg) c.5232C>G (p.Ser1744Arg) c.5178C>G (p.Ser1726Arg) c.5070C>G (p.Ser1690Arg) c.5133C>G (p.Ser1711Arg) c.5103C>G (p.Ser1701Arg) c.5175C>G (p.Ser1725Arg) | |
| 3 | g.38551140G>T | CA352141852 | SCN5A | c.5229C>A (p.Ser1743Arg) c.5232C>A (p.Ser1744Arg) c.5178C>A (p.Ser1726Arg) c.5070C>A (p.Ser1690Arg) c.5133C>A (p.Ser1711Arg) c.5103C>A (p.Ser1701Arg) c.5175C>A (p.Ser1725Arg) | |
| 3 | g.38551141C>A | CA019029 | SCN5A | c.5228G>T (p.Ser1743Ile) c.5231G>T (p.Ser1744Ile) c.5177G>T (p.Ser1726Ile) c.5069G>T (p.Ser1690Ile) c.5132G>T (p.Ser1711Ile) c.5102G>T (p.Ser1701Ile) c.5174G>T (p.Ser1725Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551141C= | CA1358557422 | SCN5A | c.5228G= (p.Ser1743=) c.5231G= (p.Ser1744=) c.5177G= (p.Ser1726=) c.5069G= (p.Ser1690=) c.5132G= (p.Ser1711=) c.5102G= (p.Ser1701=) c.5174G= (p.Ser1725=) | |
| 3 | g.38551141C>G | CA352141856 | SCN5A | c.5228G>C (p.Ser1743Thr) c.5231G>C (p.Ser1744Thr) c.5177G>C (p.Ser1726Thr) c.5069G>C (p.Ser1690Thr) c.5132G>C (p.Ser1711Thr) c.5102G>C (p.Ser1701Thr) c.5174G>C (p.Ser1725Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551141C>T | CA352141857 | SCN5A | c.5228G>A (p.Ser1743Asn) c.5231G>A (p.Ser1744Asn) c.5177G>A (p.Ser1726Asn) c.5069G>A (p.Ser1690Asn) c.5132G>A (p.Ser1711Asn) c.5102G>A (p.Ser1701Asn) c.5174G>A (p.Ser1725Asn) | COSMIC COSMIC COSMIC |