Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38550922A>CCA352141082SCN5Ac.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)
3g.38550922A>GCA352141083SCN5Ac.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)
3g.38550922A>TCA352141084SCN5Ac.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)
3g.38550923A>CCA352141087SCN5Ac.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)
3g.38550923A>GCA352141085SCN5Ac.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)
3g.38550923A>TCA352141086SCN5Ac.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)
3g.38550925_38550928delCA2573136262SCN5Ac.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
3g.38550924G>ACA433331583SCN5Ac.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
3g.38550924G>CCA064422SCN5Ac.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
3g.38550924G=CA1358556932SCN5Ac.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=)
3g.38550924G>TCA352141088SCN5Ac.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)
3g.38550925T>ACA352141089SCN5Ac.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)
3g.38550925T>CCA352141090SCN5Ac.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)
3g.38550925T>GCA352141091SCN5Ac.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)
3g.38550925_38550929delinsTCAGACA1358556933SCN5Ac.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=)
3g.38550926C>ACA352141092SCN5Ac.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)
3g.38550926C=CA1358556940SCN5Ac.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=)
3g.38550926C>GCA352141093SCN5Ac.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)
3g.38550926C>TCA352141094SCN5Ac.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
3g.38550929_38550932delCA1139657961SCN5Ac.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
3g.38550927A=CA1358556943SCN5Ac.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=)
3g.38550927A>CCA433331592SCN5Ac.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=)
3g.38550927A>GCA064413SCN5Ac.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
3g.38550927A>TCA433331593SCN5Ac.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=)
3g.38550927dupCA2586965765SCN5Ac.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)
3g.38550928G>ACA352141095SCN5Ac.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)
3g.38550928G>CCA352141096SCN5Ac.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)
3g.38550928G>TCA352141097SCN5Ac.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
3g.38550929A>CCA352141099SCN5Ac.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)
3g.38550929A>GCA352141100SCN5Ac.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)
3g.38550929A>TCA352141098SCN5Ac.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)
3g.38550930C>ACA433331605SCN5Ac.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=)
3g.38550930C>GCA433331606SCN5Ac.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=)
3g.38550930C>TCA433331607SCN5Ac.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=)
3g.38550931A>CCA352141103SCN5Ac.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)
3g.38550931A>GCA352141101SCN5Ac.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)
3g.38550931A>TCA352141102SCN5Ac.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)
3g.38550932G>ACA433331608SCN5Ac.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
3g.38550932G>CCA352141104SCN5Ac.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
3g.38550932G>TCA352141105SCN5Ac.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)
3g.38550933G>ACA433331614SCN5Ac.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
3g.38550933G>CCA433331616SCN5Ac.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
3g.38550933G>TCA433331615SCN5Ac.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=)
3g.38550934A>CCA352141106SCN5Ac.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)
3g.38550934A>GCA352141107SCN5Ac.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)
3g.38550934A>TCA352141108SCN5Ac.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)
3g.38550935C>ACA352141109SCN5Ac.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)
3g.38550935C>GCA352141110SCN5Ac.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)
3g.38550935C>TCA352141111SCN5Ac.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)
3g.38550936C>ACA433331621SCN5Ac.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=)

Number of alleles fetched