Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38550922A>C | CA352141082 | SCN5A | c.5447T>G (p.Phe1816Cys) c.5450T>G (p.Phe1817Cys) c.5396T>G (p.Phe1799Cys) c.5288T>G (p.Phe1763Cys) c.5351T>G (p.Phe1784Cys) c.5321T>G (p.Phe1774Cys) c.5393T>G (p.Phe1798Cys) | |
3 | g.38550922A>G | CA352141083 | SCN5A | c.5447T>C (p.Phe1816Ser) c.5450T>C (p.Phe1817Ser) c.5396T>C (p.Phe1799Ser) c.5288T>C (p.Phe1763Ser) c.5351T>C (p.Phe1784Ser) c.5321T>C (p.Phe1774Ser) c.5393T>C (p.Phe1798Ser) | |
3 | g.38550922A>T | CA352141084 | SCN5A | c.5447T>A (p.Phe1816Tyr) c.5450T>A (p.Phe1817Tyr) c.5396T>A (p.Phe1799Tyr) c.5288T>A (p.Phe1763Tyr) c.5351T>A (p.Phe1784Tyr) c.5321T>A (p.Phe1774Tyr) c.5393T>A (p.Phe1798Tyr) | |
3 | g.38550923A>C | CA352141087 | SCN5A | c.5446T>G (p.Phe1816Val) c.5449T>G (p.Phe1817Val) c.5395T>G (p.Phe1799Val) c.5287T>G (p.Phe1763Val) c.5350T>G (p.Phe1784Val) c.5320T>G (p.Phe1774Val) c.5392T>G (p.Phe1798Val) | |
3 | g.38550923A>G | CA352141085 | SCN5A | c.5446T>C (p.Phe1816Leu) c.5449T>C (p.Phe1817Leu) c.5395T>C (p.Phe1799Leu) c.5287T>C (p.Phe1763Leu) c.5350T>C (p.Phe1784Leu) c.5320T>C (p.Phe1774Leu) c.5392T>C (p.Phe1798Leu) | |
3 | g.38550923A>T | CA352141086 | SCN5A | c.5446T>A (p.Phe1816Ile) c.5449T>A (p.Phe1817Ile) c.5395T>A (p.Phe1799Ile) c.5287T>A (p.Phe1763Ile) c.5350T>A (p.Phe1784Ile) c.5320T>A (p.Phe1774Ile) c.5392T>A (p.Phe1798Ile) | |
3 | g.38550925_38550928del | CA2573136262 | SCN5A | c.5443_5446del (p.Asp1815LeufsTer17) c.5446_5449del (p.Asp1816LeufsTer17) c.5392_5395del (p.Asp1798LeufsTer17) c.5284_5287del (p.Asp1762LeufsTer17) c.5347_5350del (p.Asp1783LeufsTer17) c.5317_5320del (p.Asp1773LeufsTer17) c.5389_5392del (p.Asp1797LeufsTer17) | ClinVar dbSNP |
3 | g.38550924G>A | CA433331583 | SCN5A | c.5445C>T (p.Asp1815=) c.5448C>T (p.Asp1816=) c.5394C>T (p.Asp1798=) c.5286C>T (p.Asp1762=) c.5349C>T (p.Asp1783=) c.5319C>T (p.Asp1773=) c.5391C>T (p.Asp1797=) | gnomAD v4 |
3 | g.38550924G>C | CA064422 | SCN5A | c.5445C>G (p.Asp1815Glu) c.5448C>G (p.Asp1816Glu) c.5394C>G (p.Asp1798Glu) c.5286C>G (p.Asp1762Glu) c.5349C>G (p.Asp1783Glu) c.5319C>G (p.Asp1773Glu) c.5391C>G (p.Asp1797Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38550924G= | CA1358556932 | SCN5A | c.5445C= (p.Asp1815=) c.5448C= (p.Asp1816=) c.5394C= (p.Asp1798=) c.5286C= (p.Asp1762=) c.5349C= (p.Asp1783=) c.5319C= (p.Asp1773=) c.5391C= (p.Asp1797=) | |
3 | g.38550924G>T | CA352141088 | SCN5A | c.5445C>A (p.Asp1815Glu) c.5448C>A (p.Asp1816Glu) c.5394C>A (p.Asp1798Glu) c.5286C>A (p.Asp1762Glu) c.5349C>A (p.Asp1783Glu) c.5319C>A (p.Asp1773Glu) c.5391C>A (p.Asp1797Glu) | |
3 | g.38550925T>A | CA352141089 | SCN5A | c.5444A>T (p.Asp1815Val) c.5447A>T (p.Asp1816Val) c.5393A>T (p.Asp1798Val) c.5285A>T (p.Asp1762Val) c.5348A>T (p.Asp1783Val) c.5318A>T (p.Asp1773Val) c.5390A>T (p.Asp1797Val) | |
3 | g.38550925T>C | CA352141090 | SCN5A | c.5444A>G (p.Asp1815Gly) c.5447A>G (p.Asp1816Gly) c.5393A>G (p.Asp1798Gly) c.5285A>G (p.Asp1762Gly) c.5348A>G (p.Asp1783Gly) c.5318A>G (p.Asp1773Gly) c.5390A>G (p.Asp1797Gly) | |
3 | g.38550925T>G | CA352141091 | SCN5A | c.5444A>C (p.Asp1815Ala) c.5447A>C (p.Asp1816Ala) c.5393A>C (p.Asp1798Ala) c.5285A>C (p.Asp1762Ala) c.5348A>C (p.Asp1783Ala) c.5318A>C (p.Asp1773Ala) c.5390A>C (p.Asp1797Ala) | |
3 | g.38550925_38550929delinsTCAGA | CA1358556933 | SCN5A | c.5440_5444delinsTCTGA (p.Ser1814=) c.5443_5447delinsTCTGA (p.Ser1815=) c.5389_5393delinsTCTGA (p.Ser1797=) c.5281_5285delinsTCTGA (p.Ser1761=) c.5344_5348delinsTCTGA (p.Ser1782=) c.5314_5318delinsTCTGA (p.Ser1772=) c.5386_5390delinsTCTGA (p.Ser1796=) | |
3 | g.38550926C>A | CA352141092 | SCN5A | c.5443G>T (p.Asp1815Tyr) c.5446G>T (p.Asp1816Tyr) c.5392G>T (p.Asp1798Tyr) c.5284G>T (p.Asp1762Tyr) c.5347G>T (p.Asp1783Tyr) c.5317G>T (p.Asp1773Tyr) c.5389G>T (p.Asp1797Tyr) | |
3 | g.38550926C= | CA1358556940 | SCN5A | c.5443G= (p.Asp1815=) c.5446G= (p.Asp1816=) c.5392G= (p.Asp1798=) c.5284G= (p.Asp1762=) c.5347G= (p.Asp1783=) c.5317G= (p.Asp1773=) c.5389G= (p.Asp1797=) | |
3 | g.38550926C>G | CA352141093 | SCN5A | c.5443G>C (p.Asp1815His) c.5446G>C (p.Asp1816His) c.5392G>C (p.Asp1798His) c.5284G>C (p.Asp1762His) c.5347G>C (p.Asp1783His) c.5317G>C (p.Asp1773His) c.5389G>C (p.Asp1797His) | |
3 | g.38550926C>T | CA352141094 | SCN5A | c.5443G>A (p.Asp1815Asn) c.5446G>A (p.Asp1816Asn) c.5392G>A (p.Asp1798Asn) c.5284G>A (p.Asp1762Asn) c.5347G>A (p.Asp1783Asn) c.5317G>A (p.Asp1773Asn) c.5389G>A (p.Asp1797Asn) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38550929_38550932del | CA1139657961 | SCN5A | c.5440_5443del (p.Ser1814ThrfsTer18) c.5443_5446del (p.Ser1815ThrfsTer18) c.5389_5392del (p.Ser1797ThrfsTer18) c.5281_5284del (p.Ser1761ThrfsTer18) c.5344_5347del (p.Ser1782ThrfsTer18) c.5314_5317del (p.Ser1772ThrfsTer18) c.5386_5389del (p.Ser1796ThrfsTer18) | ClinVar dbSNP |
3 | g.38550927A= | CA1358556943 | SCN5A | c.5442T= (p.Ser1814=) c.5445T= (p.Ser1815=) c.5391T= (p.Ser1797=) c.5283T= (p.Ser1761=) c.5346T= (p.Ser1782=) c.5316T= (p.Ser1772=) c.5388T= (p.Ser1796=) | |
3 | g.38550927A>C | CA433331592 | SCN5A | c.5442T>G (p.Ser1814=) c.5445T>G (p.Ser1815=) c.5391T>G (p.Ser1797=) c.5283T>G (p.Ser1761=) c.5346T>G (p.Ser1782=) c.5316T>G (p.Ser1772=) c.5388T>G (p.Ser1796=) | |
3 | g.38550927A>G | CA064413 | SCN5A | c.5442T>C (p.Ser1814=) c.5445T>C (p.Ser1815=) c.5391T>C (p.Ser1797=) c.5283T>C (p.Ser1761=) c.5346T>C (p.Ser1782=) c.5316T>C (p.Ser1772=) c.5388T>C (p.Ser1796=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38550927A>T | CA433331593 | SCN5A | c.5442T>A (p.Ser1814=) c.5445T>A (p.Ser1815=) c.5391T>A (p.Ser1797=) c.5283T>A (p.Ser1761=) c.5346T>A (p.Ser1782=) c.5316T>A (p.Ser1772=) c.5388T>A (p.Ser1796=) | |
3 | g.38550927dup | CA2586965765 | SCN5A | c.5442dup (p.Asp1815Ter) c.5445dup (p.Asp1816Ter) c.5391dup (p.Asp1798Ter) c.5283dup (p.Asp1762Ter) c.5346dup (p.Asp1783Ter) c.5316dup (p.Asp1773Ter) c.5388dup (p.Asp1797Ter) | |
3 | g.38550928G>A | CA352141095 | SCN5A | c.5441C>T (p.Ser1814Phe) c.5444C>T (p.Ser1815Phe) c.5390C>T (p.Ser1797Phe) c.5282C>T (p.Ser1761Phe) c.5345C>T (p.Ser1782Phe) c.5315C>T (p.Ser1772Phe) c.5387C>T (p.Ser1796Phe) | |
3 | g.38550928G>C | CA352141096 | SCN5A | c.5441C>G (p.Ser1814Cys) c.5444C>G (p.Ser1815Cys) c.5390C>G (p.Ser1797Cys) c.5282C>G (p.Ser1761Cys) c.5345C>G (p.Ser1782Cys) c.5315C>G (p.Ser1772Cys) c.5387C>G (p.Ser1796Cys) | |
3 | g.38550928G>T | CA352141097 | SCN5A | c.5441C>A (p.Ser1814Tyr) c.5444C>A (p.Ser1815Tyr) c.5390C>A (p.Ser1797Tyr) c.5282C>A (p.Ser1761Tyr) c.5345C>A (p.Ser1782Tyr) c.5315C>A (p.Ser1772Tyr) c.5387C>A (p.Ser1796Tyr) | COSMIC |
3 | g.38550929A>C | CA352141099 | SCN5A | c.5440T>G (p.Ser1814Ala) c.5443T>G (p.Ser1815Ala) c.5389T>G (p.Ser1797Ala) c.5281T>G (p.Ser1761Ala) c.5344T>G (p.Ser1782Ala) c.5314T>G (p.Ser1772Ala) c.5386T>G (p.Ser1796Ala) | |
3 | g.38550929A>G | CA352141100 | SCN5A | c.5440T>C (p.Ser1814Pro) c.5443T>C (p.Ser1815Pro) c.5389T>C (p.Ser1797Pro) c.5281T>C (p.Ser1761Pro) c.5344T>C (p.Ser1782Pro) c.5314T>C (p.Ser1772Pro) c.5386T>C (p.Ser1796Pro) | |
3 | g.38550929A>T | CA352141098 | SCN5A | c.5440T>A (p.Ser1814Thr) c.5443T>A (p.Ser1815Thr) c.5389T>A (p.Ser1797Thr) c.5281T>A (p.Ser1761Thr) c.5344T>A (p.Ser1782Thr) c.5314T>A (p.Ser1772Thr) c.5386T>A (p.Ser1796Thr) | |
3 | g.38550930C>A | CA433331605 | SCN5A | c.5439G>T (p.Leu1813=) c.5442G>T (p.Leu1814=) c.5388G>T (p.Leu1796=) c.5280G>T (p.Leu1760=) c.5343G>T (p.Leu1781=) c.5313G>T (p.Leu1771=) c.5385G>T (p.Leu1795=) | |
3 | g.38550930C>G | CA433331606 | SCN5A | c.5439G>C (p.Leu1813=) c.5442G>C (p.Leu1814=) c.5388G>C (p.Leu1796=) c.5280G>C (p.Leu1760=) c.5343G>C (p.Leu1781=) c.5313G>C (p.Leu1771=) c.5385G>C (p.Leu1795=) | |
3 | g.38550930C>T | CA433331607 | SCN5A | c.5439G>A (p.Leu1813=) c.5442G>A (p.Leu1814=) c.5388G>A (p.Leu1796=) c.5280G>A (p.Leu1760=) c.5343G>A (p.Leu1781=) c.5313G>A (p.Leu1771=) c.5385G>A (p.Leu1795=) | |
3 | g.38550931A>C | CA352141103 | SCN5A | c.5438T>G (p.Leu1813Arg) c.5441T>G (p.Leu1814Arg) c.5387T>G (p.Leu1796Arg) c.5279T>G (p.Leu1760Arg) c.5342T>G (p.Leu1781Arg) c.5312T>G (p.Leu1771Arg) c.5384T>G (p.Leu1795Arg) | |
3 | g.38550931A>G | CA352141101 | SCN5A | c.5438T>C (p.Leu1813Pro) c.5441T>C (p.Leu1814Pro) c.5387T>C (p.Leu1796Pro) c.5279T>C (p.Leu1760Pro) c.5342T>C (p.Leu1781Pro) c.5312T>C (p.Leu1771Pro) c.5384T>C (p.Leu1795Pro) | |
3 | g.38550931A>T | CA352141102 | SCN5A | c.5438T>A (p.Leu1813Gln) c.5441T>A (p.Leu1814Gln) c.5387T>A (p.Leu1796Gln) c.5279T>A (p.Leu1760Gln) c.5342T>A (p.Leu1781Gln) c.5312T>A (p.Leu1771Gln) c.5384T>A (p.Leu1795Gln) | |
3 | g.38550932G>A | CA433331608 | SCN5A | c.5437C>T (p.Leu1813=) c.5440C>T (p.Leu1814=) c.5386C>T (p.Leu1796=) c.5278C>T (p.Leu1760=) c.5341C>T (p.Leu1781=) c.5311C>T (p.Leu1771=) c.5383C>T (p.Leu1795=) | gnomAD v4 |
3 | g.38550932G>C | CA352141104 | SCN5A | c.5437C>G (p.Leu1813Val) c.5440C>G (p.Leu1814Val) c.5386C>G (p.Leu1796Val) c.5278C>G (p.Leu1760Val) c.5341C>G (p.Leu1781Val) c.5311C>G (p.Leu1771Val) c.5383C>G (p.Leu1795Val) | gnomAD v4 |
3 | g.38550932G>T | CA352141105 | SCN5A | c.5437C>A (p.Leu1813Met) c.5440C>A (p.Leu1814Met) c.5386C>A (p.Leu1796Met) c.5278C>A (p.Leu1760Met) c.5341C>A (p.Leu1781Met) c.5311C>A (p.Leu1771Met) c.5383C>A (p.Leu1795Met) | |
3 | g.38550933G>A | CA433331614 | SCN5A | c.5436C>T (p.Val1812=) c.5439C>T (p.Val1813=) c.5385C>T (p.Val1795=) c.5277C>T (p.Val1759=) c.5340C>T (p.Val1780=) c.5310C>T (p.Val1770=) c.5382C>T (p.Val1794=) | dbSNP |
3 | g.38550933G>C | CA433331616 | SCN5A | c.5436C>G (p.Val1812=) c.5439C>G (p.Val1813=) c.5385C>G (p.Val1795=) c.5277C>G (p.Val1759=) c.5340C>G (p.Val1780=) c.5310C>G (p.Val1770=) c.5382C>G (p.Val1794=) | ClinVar dbSNP |
3 | g.38550933G>T | CA433331615 | SCN5A | c.5436C>A (p.Val1812=) c.5439C>A (p.Val1813=) c.5385C>A (p.Val1795=) c.5277C>A (p.Val1759=) c.5340C>A (p.Val1780=) c.5310C>A (p.Val1770=) c.5382C>A (p.Val1794=) | |
3 | g.38550934A>C | CA352141106 | SCN5A | c.5435T>G (p.Val1812Gly) c.5438T>G (p.Val1813Gly) c.5384T>G (p.Val1795Gly) c.5276T>G (p.Val1759Gly) c.5339T>G (p.Val1780Gly) c.5309T>G (p.Val1770Gly) c.5381T>G (p.Val1794Gly) | |
3 | g.38550934A>G | CA352141107 | SCN5A | c.5435T>C (p.Val1812Ala) c.5438T>C (p.Val1813Ala) c.5384T>C (p.Val1795Ala) c.5276T>C (p.Val1759Ala) c.5339T>C (p.Val1780Ala) c.5309T>C (p.Val1770Ala) c.5381T>C (p.Val1794Ala) | |
3 | g.38550934A>T | CA352141108 | SCN5A | c.5435T>A (p.Val1812Asp) c.5438T>A (p.Val1813Asp) c.5384T>A (p.Val1795Asp) c.5276T>A (p.Val1759Asp) c.5339T>A (p.Val1780Asp) c.5309T>A (p.Val1770Asp) c.5381T>A (p.Val1794Asp) | |
3 | g.38550935C>A | CA352141109 | SCN5A | c.5434G>T (p.Val1812Phe) c.5437G>T (p.Val1813Phe) c.5383G>T (p.Val1795Phe) c.5275G>T (p.Val1759Phe) c.5338G>T (p.Val1780Phe) c.5308G>T (p.Val1770Phe) c.5380G>T (p.Val1794Phe) | |
3 | g.38550935C>G | CA352141110 | SCN5A | c.5434G>C (p.Val1812Leu) c.5437G>C (p.Val1813Leu) c.5383G>C (p.Val1795Leu) c.5275G>C (p.Val1759Leu) c.5338G>C (p.Val1780Leu) c.5308G>C (p.Val1770Leu) c.5380G>C (p.Val1794Leu) | |
3 | g.38550935C>T | CA352141111 | SCN5A | c.5434G>A (p.Val1812Ile) c.5437G>A (p.Val1813Ile) c.5383G>A (p.Val1795Ile) c.5275G>A (p.Val1759Ile) c.5338G>A (p.Val1780Ile) c.5308G>A (p.Val1770Ile) c.5380G>A (p.Val1794Ile) | |
3 | g.38550936C>A | CA433331621 | SCN5A | c.5433G>T (p.Ser1811=) c.5436G>T (p.Ser1812=) c.5382G>T (p.Ser1794=) c.5274G>T (p.Ser1758=) c.5337G>T (p.Ser1779=) c.5307G>T (p.Ser1769=) c.5379G>T (p.Ser1793=) |