Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38550546_38550561delinsAGGGGCATCCTCTTCGCA1358556024SCN5Ac.5808_5823delinsCGAAGAGGATGCCCCT (p.Ser1936=)
c.5811_5826delinsCGAAGAGGATGCCCCT (p.Ser1937=)
c.5757_5772delinsCGAAGAGGATGCCCCT (p.Ser1919=)
c.5649_5664delinsCGAAGAGGATGCCCCT (p.Ser1883=)
c.5712_5727delinsCGAAGAGGATGCCCCT (p.Ser1904=)
c.5682_5697delinsCGAAGAGGATGCCCCT (p.Ser1894=)
c.5754_5769delinsCGAAGAGGATGCCCCT (p.Ser1918=)
3g.38550548_38550562delCA064849SCN5Ac.5808_5822del (p.Glu1937_Pro1941del)
c.5811_5825del (p.Glu1938_Pro1942del)
c.5757_5771del (p.Glu1920_Pro1924del)
c.5649_5663del (p.Glu1884_Pro1888del)
c.5712_5726del (p.Glu1905_Pro1909del)
c.5682_5696del (p.Glu1895_Pro1899del)
c.5754_5768del (p.Glu1919_Pro1923del)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38550556T>ACA352139839SCN5Ac.5813A>T (p.Glu1938Val)
c.5816A>T (p.Glu1939Val)
c.5762A>T (p.Glu1921Val)
c.5654A>T (p.Glu1885Val)
c.5717A>T (p.Glu1906Val)
c.5687A>T (p.Glu1896Val)
c.5759A>T (p.Glu1920Val)
3g.38550556T>CCA352139840SCN5Ac.5813A>G (p.Glu1938Gly)
c.5816A>G (p.Glu1939Gly)
c.5762A>G (p.Glu1921Gly)
c.5654A>G (p.Glu1885Gly)
c.5717A>G (p.Glu1906Gly)
c.5687A>G (p.Glu1896Gly)
c.5759A>G (p.Glu1920Gly)
3g.38550556T>GCA352139841SCN5Ac.5813A>C (p.Glu1938Ala)
c.5816A>C (p.Glu1939Ala)
c.5762A>C (p.Glu1921Ala)
c.5654A>C (p.Glu1885Ala)
c.5717A>C (p.Glu1906Ala)
c.5687A>C (p.Glu1896Ala)
c.5759A>C (p.Glu1920Ala)
gnomAD v4
3g.38550557C>ACA352139843SCN5Ac.5812G>T (p.Glu1938Ter)
c.5815G>T (p.Glu1939Ter)
c.5761G>T (p.Glu1921Ter)
c.5653G>T (p.Glu1885Ter)
c.5716G>T (p.Glu1906Ter)
c.5686G>T (p.Glu1896Ter)
c.5758G>T (p.Glu1920Ter)
dbSNP
3g.38550557C=CA1358556039SCN5Ac.5812G= (p.Glu1938=)
c.5815G= (p.Glu1939=)
c.5761G= (p.Glu1921=)
c.5653G= (p.Glu1885=)
c.5716G= (p.Glu1906=)
c.5686G= (p.Glu1896=)
c.5758G= (p.Glu1920=)
3g.38550557C>GCA352139845SCN5Ac.5812G>C (p.Glu1938Gln)
c.5815G>C (p.Glu1939Gln)
c.5761G>C (p.Glu1921Gln)
c.5653G>C (p.Glu1885Gln)
c.5716G>C (p.Glu1906Gln)
c.5686G>C (p.Glu1896Gln)
c.5758G>C (p.Glu1920Gln)
3g.38550557C>TCA352139846SCN5Ac.5812G>A (p.Glu1938Lys)
c.5815G>A (p.Glu1939Lys)
c.5761G>A (p.Glu1921Lys)
c.5653G>A (p.Glu1885Lys)
c.5716G>A (p.Glu1906Lys)
c.5686G>A (p.Glu1896Lys)
c.5758G>A (p.Glu1920Lys)
3g.38550558T>ACA352139848SCN5Ac.5811A>T (p.Glu1937Asp)
c.5814A>T (p.Glu1938Asp)
c.5760A>T (p.Glu1920Asp)
c.5652A>T (p.Glu1884Asp)
c.5715A>T (p.Glu1905Asp)
c.5685A>T (p.Glu1895Asp)
c.5757A>T (p.Glu1919Asp)
3g.38550558T>CCA433331751SCN5Ac.5811A>G (p.Glu1937=)
c.5814A>G (p.Glu1938=)
c.5760A>G (p.Glu1920=)
c.5652A>G (p.Glu1884=)
c.5715A>G (p.Glu1905=)
c.5685A>G (p.Glu1895=)
c.5757A>G (p.Glu1919=)
3g.38550558T>GCA352139850SCN5Ac.5811A>C (p.Glu1937Asp)
c.5814A>C (p.Glu1938Asp)
c.5760A>C (p.Glu1920Asp)
c.5652A>C (p.Glu1884Asp)
c.5715A>C (p.Glu1905Asp)
c.5685A>C (p.Glu1895Asp)
c.5757A>C (p.Glu1919Asp)
ClinVar dbSNP gnomAD v4
3g.38550558T=CA1358556043SCN5Ac.5811A= (p.Glu1937=)
c.5814A= (p.Glu1938=)
c.5760A= (p.Glu1920=)
c.5652A= (p.Glu1884=)
c.5715A= (p.Glu1905=)
c.5685A= (p.Glu1895=)
c.5757A= (p.Glu1919=)
3g.38550559T>ACA352139853SCN5Ac.5810A>T (p.Glu1937Val)
c.5813A>T (p.Glu1938Val)
c.5759A>T (p.Glu1920Val)
c.5651A>T (p.Glu1884Val)
c.5714A>T (p.Glu1905Val)
c.5684A>T (p.Glu1895Val)
c.5756A>T (p.Glu1919Val)
3g.38550559T>CCA352139855SCN5Ac.5810A>G (p.Glu1937Gly)
c.5813A>G (p.Glu1938Gly)
c.5759A>G (p.Glu1920Gly)
c.5651A>G (p.Glu1884Gly)
c.5714A>G (p.Glu1905Gly)
c.5684A>G (p.Glu1895Gly)
c.5756A>G (p.Glu1919Gly)
3g.38550559T>GCA352139851SCN5Ac.5810A>C (p.Glu1937Ala)
c.5813A>C (p.Glu1938Ala)
c.5759A>C (p.Glu1920Ala)
c.5651A>C (p.Glu1884Ala)
c.5714A>C (p.Glu1905Ala)
c.5684A>C (p.Glu1895Ala)
c.5756A>C (p.Glu1919Ala)
gnomAD v4
3g.38550560C>ACA064864SCN5Ac.5809G>T (p.Glu1937Ter)
c.5812G>T (p.Glu1938Ter)
c.5758G>T (p.Glu1920Ter)
c.5650G>T (p.Glu1884Ter)
c.5713G>T (p.Glu1905Ter)
c.5683G>T (p.Glu1895Ter)
c.5755G>T (p.Glu1919Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38550560C=CA1358556048SCN5Ac.5809G= (p.Glu1937=)
c.5812G= (p.Glu1938=)
c.5758G= (p.Glu1920=)
c.5650G= (p.Glu1884=)
c.5713G= (p.Glu1905=)
c.5683G= (p.Glu1895=)
c.5755G= (p.Glu1919=)
3g.38550560C>GCA352139858SCN5Ac.5809G>C (p.Glu1937Gln)
c.5812G>C (p.Glu1938Gln)
c.5758G>C (p.Glu1920Gln)
c.5650G>C (p.Glu1884Gln)
c.5713G>C (p.Glu1905Gln)
c.5683G>C (p.Glu1895Gln)
c.5755G>C (p.Glu1919Gln)
3g.38550560C>TCA019487SCN5Ac.5809G>A (p.Glu1937Lys)
c.5812G>A (p.Glu1938Lys)
c.5758G>A (p.Glu1920Lys)
c.5650G>A (p.Glu1884Lys)
c.5713G>A (p.Glu1905Lys)
c.5683G>A (p.Glu1895Lys)
c.5755G>A (p.Glu1919Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550561G>ACA064853SCN5Ac.5808C>T (p.Ser1936=)
c.5811C>T (p.Ser1937=)
c.5757C>T (p.Ser1919=)
c.5649C>T (p.Ser1883=)
c.5712C>T (p.Ser1904=)
c.5682C>T (p.Ser1894=)
c.5754C>T (p.Ser1918=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38550561G>CCA433331757SCN5Ac.5808C>G (p.Ser1936=)
c.5811C>G (p.Ser1937=)
c.5757C>G (p.Ser1919=)
c.5649C>G (p.Ser1883=)
c.5712C>G (p.Ser1904=)
c.5682C>G (p.Ser1894=)
c.5754C>G (p.Ser1918=)
ClinVar dbSNP gnomAD v4
3g.38550561G=CA1358556057SCN5Ac.5808C= (p.Ser1936=)
c.5811C= (p.Ser1937=)
c.5757C= (p.Ser1919=)
c.5649C= (p.Ser1883=)
c.5712C= (p.Ser1904=)
c.5682C= (p.Ser1894=)
c.5754C= (p.Ser1918=)
3g.38550561G>TCA433331758SCN5Ac.5808C>A (p.Ser1936=)
c.5811C>A (p.Ser1937=)
c.5757C>A (p.Ser1919=)
c.5649C>A (p.Ser1883=)
c.5712C>A (p.Ser1904=)
c.5682C>A (p.Ser1894=)
c.5754C>A (p.Ser1918=)
3g.38550562G>ACA352139862SCN5Ac.5807C>T (p.Ser1936Phe)
c.5810C>T (p.Ser1937Phe)
c.5756C>T (p.Ser1919Phe)
c.5648C>T (p.Ser1883Phe)
c.5711C>T (p.Ser1904Phe)
c.5681C>T (p.Ser1894Phe)
c.5753C>T (p.Ser1918Phe)
3g.38550562G>CCA352139863SCN5Ac.5807C>G (p.Ser1936Cys)
c.5810C>G (p.Ser1937Cys)
c.5756C>G (p.Ser1919Cys)
c.5648C>G (p.Ser1883Cys)
c.5711C>G (p.Ser1904Cys)
c.5681C>G (p.Ser1894Cys)
c.5753C>G (p.Ser1918Cys)
3g.38550562G>TCA352139865SCN5Ac.5807C>A (p.Ser1936Tyr)
c.5810C>A (p.Ser1937Tyr)
c.5756C>A (p.Ser1919Tyr)
c.5648C>A (p.Ser1883Tyr)
c.5711C>A (p.Ser1904Tyr)
c.5681C>A (p.Ser1894Tyr)
c.5753C>A (p.Ser1918Tyr)
3g.38550563A=CA1358556062SCN5Ac.5806T= (p.Ser1936=)
c.5809T= (p.Ser1937=)
c.5755T= (p.Ser1919=)
c.5647T= (p.Ser1883=)
c.5710T= (p.Ser1904=)
c.5680T= (p.Ser1894=)
c.5752T= (p.Ser1918=)
3g.38550563A>CCA064846SCN5Ac.5806T>G (p.Ser1936Ala)
c.5809T>G (p.Ser1937Ala)
c.5755T>G (p.Ser1919Ala)
c.5647T>G (p.Ser1883Ala)
c.5710T>G (p.Ser1904Ala)
c.5680T>G (p.Ser1894Ala)
c.5752T>G (p.Ser1918Ala)
dbSNP ExAC gnomAD v2
3g.38550563A>GCA352139869SCN5Ac.5806T>C (p.Ser1936Pro)
c.5809T>C (p.Ser1937Pro)
c.5755T>C (p.Ser1919Pro)
c.5647T>C (p.Ser1883Pro)
c.5710T>C (p.Ser1904Pro)
c.5680T>C (p.Ser1894Pro)
c.5752T>C (p.Ser1918Pro)
3g.38550563A>TCA352139867SCN5Ac.5806T>A (p.Ser1936Thr)
c.5809T>A (p.Ser1937Thr)
c.5755T>A (p.Ser1919Thr)
c.5647T>A (p.Ser1883Thr)
c.5710T>A (p.Ser1904Thr)
c.5680T>A (p.Ser1894Thr)
c.5752T>A (p.Ser1918Thr)
3g.38550564G>ACA72937780SCN5Ac.5805C>T (p.Leu1935=)
c.5808C>T (p.Leu1936=)
c.5754C>T (p.Leu1918=)
c.5646C>T (p.Leu1882=)
c.5709C>T (p.Leu1903=)
c.5679C>T (p.Leu1893=)
c.5751C>T (p.Leu1917=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38550564G>CCA433331771SCN5Ac.5805C>G (p.Leu1935=)
c.5808C>G (p.Leu1936=)
c.5754C>G (p.Leu1918=)
c.5646C>G (p.Leu1882=)
c.5709C>G (p.Leu1903=)
c.5679C>G (p.Leu1893=)
c.5751C>G (p.Leu1917=)
3g.38550564G=CA1358556065SCN5Ac.5805C= (p.Leu1935=)
c.5808C= (p.Leu1936=)
c.5754C= (p.Leu1918=)
c.5646C= (p.Leu1882=)
c.5709C= (p.Leu1903=)
c.5679C= (p.Leu1893=)
c.5751C= (p.Leu1917=)
3g.38550564G>TCA433331772SCN5Ac.5805C>A (p.Leu1935=)
c.5808C>A (p.Leu1936=)
c.5754C>A (p.Leu1918=)
c.5646C>A (p.Leu1882=)
c.5709C>A (p.Leu1903=)
c.5679C>A (p.Leu1893=)
c.5751C>A (p.Leu1917=)
3g.38550565A>CCA352139871SCN5Ac.5804T>G (p.Leu1935Arg)
c.5807T>G (p.Leu1936Arg)
c.5753T>G (p.Leu1918Arg)
c.5645T>G (p.Leu1882Arg)
c.5708T>G (p.Leu1903Arg)
c.5678T>G (p.Leu1893Arg)
c.5750T>G (p.Leu1917Arg)
3g.38550565A>GCA352139873SCN5Ac.5804T>C (p.Leu1935Pro)
c.5807T>C (p.Leu1936Pro)
c.5753T>C (p.Leu1918Pro)
c.5645T>C (p.Leu1882Pro)
c.5708T>C (p.Leu1903Pro)
c.5678T>C (p.Leu1893Pro)
c.5750T>C (p.Leu1917Pro)
3g.38550565A>TCA352139875SCN5Ac.5804T>A (p.Leu1935His)
c.5807T>A (p.Leu1936His)
c.5753T>A (p.Leu1918His)
c.5645T>A (p.Leu1882His)
c.5708T>A (p.Leu1903His)
c.5678T>A (p.Leu1893His)
c.5750T>A (p.Leu1917His)
3g.38550566G>ACA352139877SCN5Ac.5803C>T (p.Leu1935Phe)
c.5806C>T (p.Leu1936Phe)
c.5752C>T (p.Leu1918Phe)
c.5644C>T (p.Leu1882Phe)
c.5707C>T (p.Leu1903Phe)
c.5677C>T (p.Leu1893Phe)
c.5749C>T (p.Leu1917Phe)
3g.38550566G>CCA352139881SCN5Ac.5803C>G (p.Leu1935Val)
c.5806C>G (p.Leu1936Val)
c.5752C>G (p.Leu1918Val)
c.5644C>G (p.Leu1882Val)
c.5707C>G (p.Leu1903Val)
c.5677C>G (p.Leu1893Val)
c.5749C>G (p.Leu1917Val)
3g.38550566G>TCA352139879SCN5Ac.5803C>A (p.Leu1935Ile)
c.5806C>A (p.Leu1936Ile)
c.5752C>A (p.Leu1918Ile)
c.5644C>A (p.Leu1882Ile)
c.5707C>A (p.Leu1903Ile)
c.5677C>A (p.Leu1893Ile)
c.5749C>A (p.Leu1917Ile)
3g.38550567G>ACA433331775SCN5Ac.5802C>T (p.Gly1934=)
c.5805C>T (p.Gly1935=)
c.5751C>T (p.Gly1917=)
c.5643C>T (p.Gly1881=)
c.5706C>T (p.Gly1902=)
c.5676C>T (p.Gly1892=)
c.5748C>T (p.Gly1916=)
3g.38550567G>CCA433331778SCN5Ac.5802C>G (p.Gly1934=)
c.5805C>G (p.Gly1935=)
c.5751C>G (p.Gly1917=)
c.5643C>G (p.Gly1881=)
c.5706C>G (p.Gly1902=)
c.5676C>G (p.Gly1892=)
c.5748C>G (p.Gly1916=)
3g.38550567G>TCA433331779SCN5Ac.5802C>A (p.Gly1934=)
c.5805C>A (p.Gly1935=)
c.5751C>A (p.Gly1917=)
c.5643C>A (p.Gly1881=)
c.5706C>A (p.Gly1902=)
c.5676C>A (p.Gly1892=)
c.5748C>A (p.Gly1916=)
3g.38550567_38550568dupCA2573136414SCN5Ac.5801_5802dup (p.Leu1935AlafsTer17)
c.5804_5805dup (p.Leu1936AlafsTer17)
c.5750_5751dup (p.Leu1918AlafsTer17)
c.5642_5643dup (p.Leu1882AlafsTer17)
c.5705_5706dup (p.Leu1903AlafsTer17)
c.5675_5676dup (p.Leu1893AlafsTer17)
c.5747_5748dup (p.Leu1917AlafsTer17)
ClinVar dbSNP
3g.38550568C>ACA352139883SCN5Ac.5801G>T (p.Gly1934Val)
c.5804G>T (p.Gly1935Val)
c.5750G>T (p.Gly1917Val)
c.5642G>T (p.Gly1881Val)
c.5705G>T (p.Gly1902Val)
c.5675G>T (p.Gly1892Val)
c.5747G>T (p.Gly1916Val)
gnomAD v4
3g.38550568C>GCA352139885SCN5Ac.5801G>C (p.Gly1934Ala)
c.5804G>C (p.Gly1935Ala)
c.5750G>C (p.Gly1917Ala)
c.5642G>C (p.Gly1881Ala)
c.5705G>C (p.Gly1902Ala)
c.5675G>C (p.Gly1892Ala)
c.5747G>C (p.Gly1916Ala)
3g.38550568C>TCA352139887SCN5Ac.5801G>A (p.Gly1934Asp)
c.5804G>A (p.Gly1935Asp)
c.5750G>A (p.Gly1917Asp)
c.5642G>A (p.Gly1881Asp)
c.5705G>A (p.Gly1902Asp)
c.5675G>A (p.Gly1892Asp)
c.5747G>A (p.Gly1916Asp)
3g.38550569C>ACA352139889SCN5Ac.5800G>T (p.Gly1934Cys)
c.5803G>T (p.Gly1935Cys)
c.5749G>T (p.Gly1917Cys)
c.5641G>T (p.Gly1881Cys)
c.5704G>T (p.Gly1902Cys)
c.5674G>T (p.Gly1892Cys)
c.5746G>T (p.Gly1916Cys)
3g.38550569C=CA1358556071SCN5Ac.5800G= (p.Gly1934=)
c.5803G= (p.Gly1935=)
c.5749G= (p.Gly1917=)
c.5641G= (p.Gly1881=)
c.5704G= (p.Gly1902=)
c.5674G= (p.Gly1892=)
c.5746G= (p.Gly1916=)
3g.38550569C>GCA352139891SCN5Ac.5800G>C (p.Gly1934Arg)
c.5803G>C (p.Gly1935Arg)
c.5749G>C (p.Gly1917Arg)
c.5641G>C (p.Gly1881Arg)
c.5704G>C (p.Gly1902Arg)
c.5674G>C (p.Gly1892Arg)
c.5746G>C (p.Gly1916Arg)
3g.38550569C>TCA019483SCN5Ac.5800G>A (p.Gly1934Ser)
c.5803G>A (p.Gly1935Ser)
c.5749G>A (p.Gly1917Ser)
c.5641G>A (p.Gly1881Ser)
c.5704G>A (p.Gly1902Ser)
c.5674G>A (p.Gly1892Ser)
c.5746G>A (p.Gly1916Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38550570G>ACA019476SCN5Ac.5799C>T (p.Ser1933=)
c.5802C>T (p.Ser1934=)
c.5748C>T (p.Ser1916=)
c.5640C>T (p.Ser1880=)
c.5703C>T (p.Ser1901=)
c.5673C>T (p.Ser1891=)
c.5745C>T (p.Ser1915=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550570G>CCA352139894SCN5Ac.5799C>G (p.Ser1933Arg)
c.5802C>G (p.Ser1934Arg)
c.5748C>G (p.Ser1916Arg)
c.5640C>G (p.Ser1880Arg)
c.5703C>G (p.Ser1901Arg)
c.5673C>G (p.Ser1891Arg)
c.5745C>G (p.Ser1915Arg)
3g.38550570G=CA1358556077SCN5Ac.5799C= (p.Ser1933=)
c.5802C= (p.Ser1934=)
c.5748C= (p.Ser1916=)
c.5640C= (p.Ser1880=)
c.5703C= (p.Ser1901=)
c.5673C= (p.Ser1891=)
c.5745C= (p.Ser1915=)
3g.38550570G>TCA352139896SCN5Ac.5799C>A (p.Ser1933Arg)
c.5802C>A (p.Ser1934Arg)
c.5748C>A (p.Ser1916Arg)
c.5640C>A (p.Ser1880Arg)
c.5703C>A (p.Ser1901Arg)
c.5673C>A (p.Ser1891Arg)
c.5745C>A (p.Ser1915Arg)
3g.38550571C>ACA352139897SCN5Ac.5798G>T (p.Ser1933Ile)
c.5801G>T (p.Ser1934Ile)
c.5747G>T (p.Ser1916Ile)
c.5639G>T (p.Ser1880Ile)
c.5702G>T (p.Ser1901Ile)
c.5672G>T (p.Ser1891Ile)
c.5744G>T (p.Ser1915Ile)
3g.38550571C=CA1358556083SCN5Ac.5798G= (p.Ser1933=)
c.5801G= (p.Ser1934=)
c.5747G= (p.Ser1916=)
c.5639G= (p.Ser1880=)
c.5702G= (p.Ser1901=)
c.5672G= (p.Ser1891=)
c.5744G= (p.Ser1915=)
3g.38550571C>GCA352139899SCN5Ac.5798G>C (p.Ser1933Thr)
c.5801G>C (p.Ser1934Thr)
c.5747G>C (p.Ser1916Thr)
c.5639G>C (p.Ser1880Thr)
c.5702G>C (p.Ser1901Thr)
c.5672G>C (p.Ser1891Thr)
c.5744G>C (p.Ser1915Thr)
3g.38550571C>TCA019471SCN5Ac.5798G>A (p.Ser1933Asn)
c.5801G>A (p.Ser1934Asn)
c.5747G>A (p.Ser1916Asn)
c.5639G>A (p.Ser1880Asn)
c.5702G>A (p.Ser1901Asn)
c.5672G>A (p.Ser1891Asn)
c.5744G>A (p.Ser1915Asn)
ClinVar dbSNP
3g.38550572T>ACA352139902SCN5Ac.5797A>T (p.Ser1933Cys)
c.5800A>T (p.Ser1934Cys)
c.5746A>T (p.Ser1916Cys)
c.5638A>T (p.Ser1880Cys)
c.5701A>T (p.Ser1901Cys)
c.5671A>T (p.Ser1891Cys)
c.5743A>T (p.Ser1915Cys)
3g.38550572T>CCA352139906SCN5Ac.5797A>G (p.Ser1933Gly)
c.5800A>G (p.Ser1934Gly)
c.5746A>G (p.Ser1916Gly)
c.5638A>G (p.Ser1880Gly)
c.5701A>G (p.Ser1901Gly)
c.5671A>G (p.Ser1891Gly)
c.5743A>G (p.Ser1915Gly)
3g.38550572T>GCA352139904SCN5Ac.5797A>C (p.Ser1933Arg)
c.5800A>C (p.Ser1934Arg)
c.5746A>C (p.Ser1916Arg)
c.5638A>C (p.Ser1880Arg)
c.5701A>C (p.Ser1901Arg)
c.5671A>C (p.Ser1891Arg)
c.5743A>C (p.Ser1915Arg)
3g.38550573G>ACA433331793SCN5Ac.5796C>T (p.Gly1932=)
c.5799C>T (p.Gly1933=)
c.5745C>T (p.Gly1915=)
c.5637C>T (p.Gly1879=)
c.5700C>T (p.Gly1900=)
c.5670C>T (p.Gly1890=)
c.5742C>T (p.Gly1914=)
ClinVar dbSNP gnomAD v4
3g.38550573G>CCA433331795SCN5Ac.5796C>G (p.Gly1932=)
c.5799C>G (p.Gly1933=)
c.5745C>G (p.Gly1915=)
c.5637C>G (p.Gly1879=)
c.5700C>G (p.Gly1900=)
c.5670C>G (p.Gly1890=)
c.5742C>G (p.Gly1914=)
3g.38550573G=CA1358556089SCN5Ac.5796C= (p.Gly1932=)
c.5799C= (p.Gly1933=)
c.5745C= (p.Gly1915=)
c.5637C= (p.Gly1879=)
c.5700C= (p.Gly1900=)
c.5670C= (p.Gly1890=)
c.5742C= (p.Gly1914=)
3g.38550573G>TCA433331797SCN5Ac.5796C>A (p.Gly1932=)
c.5799C>A (p.Gly1933=)
c.5745C>A (p.Gly1915=)
c.5637C>A (p.Gly1879=)
c.5700C>A (p.Gly1900=)
c.5670C>A (p.Gly1890=)
c.5742C>A (p.Gly1914=)
ClinVar dbSNP COSMIC COSMIC COSMIC
3g.38550574C>ACA064833SCN5Ac.5795G>T (p.Gly1932Val)
c.5798G>T (p.Gly1933Val)
c.5744G>T (p.Gly1915Val)
c.5636G>T (p.Gly1879Val)
c.5699G>T (p.Gly1900Val)
c.5669G>T (p.Gly1890Val)
c.5741G>T (p.Gly1914Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550574C=CA1358556096SCN5Ac.5795G= (p.Gly1932=)
c.5798G= (p.Gly1933=)
c.5744G= (p.Gly1915=)
c.5636G= (p.Gly1879=)
c.5699G= (p.Gly1900=)
c.5669G= (p.Gly1890=)
c.5741G= (p.Gly1914=)
3g.38550574C>GCA064827SCN5Ac.5795G>C (p.Gly1932Ala)
c.5798G>C (p.Gly1933Ala)
c.5744G>C (p.Gly1915Ala)
c.5636G>C (p.Gly1879Ala)
c.5699G>C (p.Gly1900Ala)
c.5669G>C (p.Gly1890Ala)
c.5741G>C (p.Gly1914Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550574C>TCA064822SCN5Ac.5795G>A (p.Gly1932Asp)
c.5798G>A (p.Gly1933Asp)
c.5744G>A (p.Gly1915Asp)
c.5636G>A (p.Gly1879Asp)
c.5699G>A (p.Gly1900Asp)
c.5669G>A (p.Gly1890Asp)
c.5741G>A (p.Gly1914Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38550575C>ACA352139909SCN5Ac.5794G>T (p.Gly1932Cys)
c.5797G>T (p.Gly1933Cys)
c.5743G>T (p.Gly1915Cys)
c.5635G>T (p.Gly1879Cys)
c.5698G>T (p.Gly1900Cys)
c.5668G>T (p.Gly1890Cys)
c.5740G>T (p.Gly1914Cys)
3g.38550575C>GCA352139910SCN5Ac.5794G>C (p.Gly1932Arg)
c.5797G>C (p.Gly1933Arg)
c.5743G>C (p.Gly1915Arg)
c.5635G>C (p.Gly1879Arg)
c.5698G>C (p.Gly1900Arg)
c.5668G>C (p.Gly1890Arg)
c.5740G>C (p.Gly1914Arg)
3g.38550575C>TCA352139912SCN5Ac.5794G>A (p.Gly1932Ser)
c.5797G>A (p.Gly1933Ser)
c.5743G>A (p.Gly1915Ser)
c.5635G>A (p.Gly1879Ser)
c.5698G>A (p.Gly1900Ser)
c.5668G>A (p.Gly1890Ser)
c.5740G>A (p.Gly1914Ser)
3g.38550576C>ACA433331801SCN5Ac.5793G>T (p.Ala1931=)
c.5796G>T (p.Ala1932=)
c.5742G>T (p.Ala1914=)
c.5634G>T (p.Ala1878=)
c.5697G>T (p.Ala1899=)
c.5667G>T (p.Ala1889=)
c.5739G>T (p.Ala1913=)
COSMIC COSMIC COSMIC
3g.38550576C=CA1358556106SCN5Ac.5793G= (p.Ala1931=)
c.5796G= (p.Ala1932=)
c.5742G= (p.Ala1914=)
c.5634G= (p.Ala1878=)
c.5697G= (p.Ala1899=)
c.5667G= (p.Ala1889=)
c.5739G= (p.Ala1913=)
3g.38550576C>GCA064816SCN5Ac.5793G>C (p.Ala1931=)
c.5796G>C (p.Ala1932=)
c.5742G>C (p.Ala1914=)
c.5634G>C (p.Ala1878=)
c.5697G>C (p.Ala1899=)
c.5667G>C (p.Ala1889=)
c.5739G>C (p.Ala1913=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550576C>TCA019467SCN5Ac.5793G>A (p.Ala1931=)
c.5796G>A (p.Ala1932=)
c.5742G>A (p.Ala1914=)
c.5634G>A (p.Ala1878=)
c.5697G>A (p.Ala1899=)
c.5667G>A (p.Ala1889=)
c.5739G>A (p.Ala1913=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550577G>ACA064808SCN5Ac.5792C>T (p.Ala1931Val)
c.5795C>T (p.Ala1932Val)
c.5741C>T (p.Ala1914Val)
c.5633C>T (p.Ala1878Val)
c.5696C>T (p.Ala1899Val)
c.5666C>T (p.Ala1889Val)
c.5738C>T (p.Ala1913Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550577G>CCA352139915SCN5Ac.5792C>G (p.Ala1931Gly)
c.5795C>G (p.Ala1932Gly)
c.5741C>G (p.Ala1914Gly)
c.5633C>G (p.Ala1878Gly)
c.5696C>G (p.Ala1899Gly)
c.5666C>G (p.Ala1889Gly)
c.5738C>G (p.Ala1913Gly)
3g.38550577G=CA1358556112SCN5Ac.5792C= (p.Ala1931=)
c.5795C= (p.Ala1932=)
c.5741C= (p.Ala1914=)
c.5633C= (p.Ala1878=)
c.5696C= (p.Ala1899=)
c.5666C= (p.Ala1889=)
c.5738C= (p.Ala1913=)
3g.38550577G>TCA352139917SCN5Ac.5792C>A (p.Ala1931Glu)
c.5795C>A (p.Ala1932Glu)
c.5741C>A (p.Ala1914Glu)
c.5633C>A (p.Ala1878Glu)
c.5696C>A (p.Ala1899Glu)
c.5666C>A (p.Ala1889Glu)
c.5738C>A (p.Ala1913Glu)
3g.38550578C>ACA352139919SCN5Ac.5791G>T (p.Ala1931Ser)
c.5794G>T (p.Ala1932Ser)
c.5740G>T (p.Ala1914Ser)
c.5632G>T (p.Ala1878Ser)
c.5695G>T (p.Ala1899Ser)
c.5665G>T (p.Ala1889Ser)
c.5737G>T (p.Ala1913Ser)
3g.38550578C=CA1358556118SCN5Ac.5791G= (p.Ala1931=)
c.5794G= (p.Ala1932=)
c.5740G= (p.Ala1914=)
c.5632G= (p.Ala1878=)
c.5695G= (p.Ala1899=)
c.5665G= (p.Ala1889=)
c.5737G= (p.Ala1913=)
3g.38550578C>GCA352139921SCN5Ac.5791G>C (p.Ala1931Pro)
c.5794G>C (p.Ala1932Pro)
c.5740G>C (p.Ala1914Pro)
c.5632G>C (p.Ala1878Pro)
c.5695G>C (p.Ala1899Pro)
c.5665G>C (p.Ala1889Pro)
c.5737G>C (p.Ala1913Pro)
3g.38550578C>TCA72937792SCN5Ac.5791G>A (p.Ala1931Thr)
c.5794G>A (p.Ala1932Thr)
c.5740G>A (p.Ala1914Thr)
c.5632G>A (p.Ala1878Thr)
c.5695G>A (p.Ala1899Thr)
c.5665G>A (p.Ala1889Thr)
c.5737G>A (p.Ala1913Thr)
ClinVar dbSNP gnomAD v4
3g.38550579C>ACA352139924SCN5Ac.5790G>T (p.Gln1930His)
c.5793G>T (p.Gln1931His)
c.5739G>T (p.Gln1913His)
c.5631G>T (p.Gln1877His)
c.5694G>T (p.Gln1898His)
c.5664G>T (p.Gln1888His)
c.5736G>T (p.Gln1912His)
3g.38550579C=CA1358556123SCN5Ac.5790G= (p.Gln1930=)
c.5793G= (p.Gln1931=)
c.5739G= (p.Gln1913=)
c.5631G= (p.Gln1877=)
c.5694G= (p.Gln1898=)
c.5664G= (p.Gln1888=)
c.5736G= (p.Gln1912=)
3g.38550579C>GCA352139925SCN5Ac.5790G>C (p.Gln1930His)
c.5793G>C (p.Gln1931His)
c.5739G>C (p.Gln1913His)
c.5631G>C (p.Gln1877His)
c.5694G>C (p.Gln1898His)
c.5664G>C (p.Gln1888His)
c.5736G>C (p.Gln1912His)
3g.38550579C>TCA433331807SCN5Ac.5790G>A (p.Gln1930=)
c.5793G>A (p.Gln1931=)
c.5739G>A (p.Gln1913=)
c.5631G>A (p.Gln1877=)
c.5694G>A (p.Gln1898=)
c.5664G>A (p.Gln1888=)
c.5736G>A (p.Gln1912=)
ClinVar dbSNP
3g.38550580T>ACA352139928SCN5Ac.5789A>T (p.Gln1930Leu)
c.5792A>T (p.Gln1931Leu)
c.5738A>T (p.Gln1913Leu)
c.5630A>T (p.Gln1877Leu)
c.5693A>T (p.Gln1898Leu)
c.5663A>T (p.Gln1888Leu)
c.5735A>T (p.Gln1912Leu)
3g.38550580T>CCA352139929SCN5Ac.5789A>G (p.Gln1930Arg)
c.5792A>G (p.Gln1931Arg)
c.5738A>G (p.Gln1913Arg)
c.5630A>G (p.Gln1877Arg)
c.5693A>G (p.Gln1898Arg)
c.5663A>G (p.Gln1888Arg)
c.5735A>G (p.Gln1912Arg)
3g.38550580T>GCA352139931SCN5Ac.5789A>C (p.Gln1930Pro)
c.5792A>C (p.Gln1931Pro)
c.5738A>C (p.Gln1913Pro)
c.5630A>C (p.Gln1877Pro)
c.5693A>C (p.Gln1898Pro)
c.5663A>C (p.Gln1888Pro)
c.5735A>C (p.Gln1912Pro)
3g.38550581G>ACA352139933SCN5Ac.5788C>T (p.Gln1930Ter)
c.5791C>T (p.Gln1931Ter)
c.5737C>T (p.Gln1913Ter)
c.5629C>T (p.Gln1877Ter)
c.5692C>T (p.Gln1898Ter)
c.5662C>T (p.Gln1888Ter)
c.5734C>T (p.Gln1912Ter)
3g.38550581G>CCA352139935SCN5Ac.5788C>G (p.Gln1930Glu)
c.5791C>G (p.Gln1931Glu)
c.5737C>G (p.Gln1913Glu)
c.5629C>G (p.Gln1877Glu)
c.5692C>G (p.Gln1898Glu)
c.5662C>G (p.Gln1888Glu)
c.5734C>G (p.Gln1912Glu)
3g.38550581G>TCA352139937SCN5Ac.5788C>A (p.Gln1930Lys)
c.5791C>A (p.Gln1931Lys)
c.5737C>A (p.Gln1913Lys)
c.5629C>A (p.Gln1877Lys)
c.5692C>A (p.Gln1898Lys)
c.5662C>A (p.Gln1888Lys)
c.5734C>A (p.Gln1912Lys)
3g.38550582_38550587delCA2665106300SCN5Ac.5783_5788del (p.Arg1928_Gln1929del)
c.5786_5791del (p.Arg1929_Gln1930del)
c.5732_5737del (p.Arg1911_Gln1912del)
c.5624_5629del (p.Arg1875_Gln1876del)
c.5687_5692del (p.Arg1896_Gln1897del)
c.5657_5662del (p.Arg1886_Gln1887del)
c.5729_5734del (p.Arg1910_Gln1911del)
gnomAD v4
3g.38550582C>ACA352139938SCN5Ac.5787G>T (p.Gln1929His)
c.5790G>T (p.Gln1930His)
c.5736G>T (p.Gln1912His)
c.5628G>T (p.Gln1876His)
c.5691G>T (p.Gln1897His)
c.5661G>T (p.Gln1887His)
c.5733G>T (p.Gln1911His)
dbSNP gnomAD v2 gnomAD v4
3g.38550582C=CA1358556126SCN5Ac.5787G= (p.Gln1929=)
c.5790G= (p.Gln1930=)
c.5736G= (p.Gln1912=)
c.5628G= (p.Gln1876=)
c.5691G= (p.Gln1897=)
c.5661G= (p.Gln1887=)
c.5733G= (p.Gln1911=)
3g.38550582C>GCA352139940SCN5Ac.5787G>C (p.Gln1929His)
c.5790G>C (p.Gln1930His)
c.5736G>C (p.Gln1912His)
c.5628G>C (p.Gln1876His)
c.5691G>C (p.Gln1897His)
c.5661G>C (p.Gln1887His)
c.5733G>C (p.Gln1911His)
3g.38550582C>TCA433331822SCN5Ac.5787G>A (p.Gln1929=)
c.5790G>A (p.Gln1930=)
c.5736G>A (p.Gln1912=)
c.5628G>A (p.Gln1876=)
c.5691G>A (p.Gln1897=)
c.5661G>A (p.Gln1887=)
c.5733G>A (p.Gln1911=)
3g.38550583T>ACA352139942SCN5Ac.5786A>T (p.Gln1929Leu)
c.5789A>T (p.Gln1930Leu)
c.5735A>T (p.Gln1912Leu)
c.5627A>T (p.Gln1876Leu)
c.5690A>T (p.Gln1897Leu)
c.5660A>T (p.Gln1887Leu)
c.5732A>T (p.Gln1911Leu)
3g.38550583T>CCA352139944SCN5Ac.5786A>G (p.Gln1929Arg)
c.5789A>G (p.Gln1930Arg)
c.5735A>G (p.Gln1912Arg)
c.5627A>G (p.Gln1876Arg)
c.5690A>G (p.Gln1897Arg)
c.5660A>G (p.Gln1887Arg)
c.5732A>G (p.Gln1911Arg)
ClinVar dbSNP gnomAD v4
3g.38550583T>GCA352139946SCN5Ac.5786A>C (p.Gln1929Pro)
c.5789A>C (p.Gln1930Pro)
c.5735A>C (p.Gln1912Pro)
c.5627A>C (p.Gln1876Pro)
c.5690A>C (p.Gln1897Pro)
c.5660A>C (p.Gln1887Pro)
c.5732A>C (p.Gln1911Pro)
3g.38550583T=CA1358556130SCN5Ac.5786A= (p.Gln1929=)
c.5789A= (p.Gln1930=)
c.5735A= (p.Gln1912=)
c.5627A= (p.Gln1876=)
c.5690A= (p.Gln1897=)
c.5660A= (p.Gln1887=)
c.5732A= (p.Gln1911=)
3g.38550584G>ACA352139951SCN5Ac.5785C>T (p.Gln1929Ter)
c.5788C>T (p.Gln1930Ter)
c.5734C>T (p.Gln1912Ter)
c.5626C>T (p.Gln1876Ter)
c.5689C>T (p.Gln1897Ter)
c.5659C>T (p.Gln1887Ter)
c.5731C>T (p.Gln1911Ter)
dbSNP
3g.38550584G>CCA352139950SCN5Ac.5785C>G (p.Gln1929Glu)
c.5788C>G (p.Gln1930Glu)
c.5734C>G (p.Gln1912Glu)
c.5626C>G (p.Gln1876Glu)
c.5689C>G (p.Gln1897Glu)
c.5659C>G (p.Gln1887Glu)
c.5731C>G (p.Gln1911Glu)
3g.38550584G=CA1358556135SCN5Ac.5785C= (p.Gln1929=)
c.5788C= (p.Gln1930=)
c.5734C= (p.Gln1912=)
c.5626C= (p.Gln1876=)
c.5689C= (p.Gln1897=)
c.5659C= (p.Gln1887=)
c.5731C= (p.Gln1911=)
3g.38550584G>TCA352139947SCN5Ac.5785C>A (p.Gln1929Lys)
c.5788C>A (p.Gln1930Lys)
c.5734C>A (p.Gln1912Lys)
c.5626C>A (p.Gln1876Lys)
c.5689C>A (p.Gln1897Lys)
c.5659C>A (p.Gln1887Lys)
c.5731C>A (p.Gln1911Lys)
3g.38550585A=CA1358556137SCN5Ac.5784T= (p.Arg1928=)
c.5787T= (p.Arg1929=)
c.5733T= (p.Arg1911=)
c.5625T= (p.Arg1875=)
c.5688T= (p.Arg1896=)
c.5658T= (p.Arg1886=)
c.5730T= (p.Arg1910=)
3g.38550585A>CCA433331834SCN5Ac.5784T>G (p.Arg1928=)
c.5787T>G (p.Arg1929=)
c.5733T>G (p.Arg1911=)
c.5625T>G (p.Arg1875=)
c.5688T>G (p.Arg1896=)
c.5658T>G (p.Arg1886=)
c.5730T>G (p.Arg1910=)
dbSNP
3g.38550585A>GCA433331838SCN5Ac.5784T>C (p.Arg1928=)
c.5787T>C (p.Arg1929=)
c.5733T>C (p.Arg1911=)
c.5625T>C (p.Arg1875=)
c.5688T>C (p.Arg1896=)
c.5658T>C (p.Arg1886=)
c.5730T>C (p.Arg1910=)
3g.38550585A>TCA433331835SCN5Ac.5784T>A (p.Arg1928=)
c.5787T>A (p.Arg1929=)
c.5733T>A (p.Arg1911=)
c.5625T>A (p.Arg1875=)
c.5688T>A (p.Arg1896=)
c.5658T>A (p.Arg1886=)
c.5730T>A (p.Arg1910=)
3g.38550586C>ACA352139952SCN5Ac.5783G>T (p.Arg1928Leu)
c.5786G>T (p.Arg1929Leu)
c.5732G>T (p.Arg1911Leu)
c.5624G>T (p.Arg1875Leu)
c.5687G>T (p.Arg1896Leu)
c.5657G>T (p.Arg1886Leu)
c.5729G>T (p.Arg1910Leu)
3g.38550586C=CA1358556142SCN5Ac.5783G= (p.Arg1928=)
c.5786G= (p.Arg1929=)
c.5732G= (p.Arg1911=)
c.5624G= (p.Arg1875=)
c.5687G= (p.Arg1896=)
c.5657G= (p.Arg1886=)
c.5729G= (p.Arg1910=)
3g.38550586C>GCA352139954SCN5Ac.5783G>C (p.Arg1928Pro)
c.5786G>C (p.Arg1929Pro)
c.5732G>C (p.Arg1911Pro)
c.5624G>C (p.Arg1875Pro)
c.5687G>C (p.Arg1896Pro)
c.5657G>C (p.Arg1886Pro)
c.5729G>C (p.Arg1910Pro)
3g.38550586C>TCA019464SCN5Ac.5783G>A (p.Arg1928His)
c.5786G>A (p.Arg1929His)
c.5732G>A (p.Arg1911His)
c.5624G>A (p.Arg1875His)
c.5687G>A (p.Arg1896His)
c.5657G>A (p.Arg1886His)
c.5729G>A (p.Arg1910His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38550587G>ACA064797SCN5Ac.5782C>T (p.Arg1928Cys)
c.5785C>T (p.Arg1929Cys)
c.5731C>T (p.Arg1911Cys)
c.5623C>T (p.Arg1875Cys)
c.5686C>T (p.Arg1896Cys)
c.5656C>T (p.Arg1886Cys)
c.5728C>T (p.Arg1910Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38550587G>CCA352139955SCN5Ac.5782C>G (p.Arg1928Gly)
c.5785C>G (p.Arg1929Gly)
c.5731C>G (p.Arg1911Gly)
c.5623C>G (p.Arg1875Gly)
c.5686C>G (p.Arg1896Gly)
c.5656C>G (p.Arg1886Gly)
c.5728C>G (p.Arg1910Gly)
gnomAD v4
3g.38550587G=CA1358556151SCN5Ac.5782C= (p.Arg1928=)
c.5785C= (p.Arg1929=)
c.5731C= (p.Arg1911=)
c.5623C= (p.Arg1875=)
c.5686C= (p.Arg1896=)
c.5656C= (p.Arg1886=)
c.5728C= (p.Arg1910=)
3g.38550587G>TCA352139956SCN5Ac.5782C>A (p.Arg1928Ser)
c.5785C>A (p.Arg1929Ser)
c.5731C>A (p.Arg1911Ser)
c.5623C>A (p.Arg1875Ser)
c.5686C>A (p.Arg1896Ser)
c.5656C>A (p.Arg1886Ser)
c.5728C>A (p.Arg1910Ser)
3g.38550588G>ACA433331856SCN5Ac.5781C>T (p.Phe1927=)
c.5784C>T (p.Phe1928=)
c.5730C>T (p.Phe1910=)
c.5622C>T (p.Phe1874=)
c.5685C>T (p.Phe1895=)
c.5655C>T (p.Phe1885=)
c.5727C>T (p.Phe1909=)
3g.38550588G>CCA352139959SCN5Ac.5781C>G (p.Phe1927Leu)
c.5784C>G (p.Phe1928Leu)
c.5730C>G (p.Phe1910Leu)
c.5622C>G (p.Phe1874Leu)
c.5685C>G (p.Phe1895Leu)
c.5655C>G (p.Phe1885Leu)
c.5727C>G (p.Phe1909Leu)
3g.38550588G>TCA352139960SCN5Ac.5781C>A (p.Phe1927Leu)
c.5784C>A (p.Phe1928Leu)
c.5730C>A (p.Phe1910Leu)
c.5622C>A (p.Phe1874Leu)
c.5685C>A (p.Phe1895Leu)
c.5655C>A (p.Phe1885Leu)
c.5727C>A (p.Phe1909Leu)
3g.38550589A=CA1358556155SCN5Ac.5780T= (p.Phe1927=)
c.5783T= (p.Phe1928=)
c.5729T= (p.Phe1910=)
c.5621T= (p.Phe1874=)
c.5684T= (p.Phe1895=)
c.5654T= (p.Phe1885=)
c.5726T= (p.Phe1909=)
3g.38550589A>CCA16611454SCN5Ac.5780T>G (p.Phe1927Cys)
c.5783T>G (p.Phe1928Cys)
c.5729T>G (p.Phe1910Cys)
c.5621T>G (p.Phe1874Cys)
c.5684T>G (p.Phe1895Cys)
c.5654T>G (p.Phe1885Cys)
c.5726T>G (p.Phe1909Cys)
ClinVar dbSNP
3g.38550589A>GCA352139962SCN5Ac.5780T>C (p.Phe1927Ser)
c.5783T>C (p.Phe1928Ser)
c.5729T>C (p.Phe1910Ser)
c.5621T>C (p.Phe1874Ser)
c.5684T>C (p.Phe1895Ser)
c.5654T>C (p.Phe1885Ser)
c.5726T>C (p.Phe1909Ser)
3g.38550589A>TCA352139964SCN5Ac.5780T>A (p.Phe1927Tyr)
c.5783T>A (p.Phe1928Tyr)
c.5729T>A (p.Phe1910Tyr)
c.5621T>A (p.Phe1874Tyr)
c.5684T>A (p.Phe1895Tyr)
c.5654T>A (p.Phe1885Tyr)
c.5726T>A (p.Phe1909Tyr)
3g.38550590A=CA1358556159SCN5Ac.5779T= (p.Phe1927=)
c.5782T= (p.Phe1928=)
c.5728T= (p.Phe1910=)
c.5620T= (p.Phe1874=)
c.5683T= (p.Phe1895=)
c.5653T= (p.Phe1885=)
c.5725T= (p.Phe1909=)
3g.38550590A>CCA352139966SCN5Ac.5779T>G (p.Phe1927Val)
c.5782T>G (p.Phe1928Val)
c.5728T>G (p.Phe1910Val)
c.5620T>G (p.Phe1874Val)
c.5683T>G (p.Phe1895Val)
c.5653T>G (p.Phe1885Val)
c.5725T>G (p.Phe1909Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38550590A>GCA352139968SCN5Ac.5779T>C (p.Phe1927Leu)
c.5782T>C (p.Phe1928Leu)
c.5728T>C (p.Phe1910Leu)
c.5620T>C (p.Phe1874Leu)
c.5683T>C (p.Phe1895Leu)
c.5653T>C (p.Phe1885Leu)
c.5725T>C (p.Phe1909Leu)
dbSNP gnomAD v3 gnomAD v4
3g.38550590A>TCA352139969SCN5Ac.5779T>A (p.Phe1927Ile)
c.5782T>A (p.Phe1928Ile)
c.5728T>A (p.Phe1910Ile)
c.5620T>A (p.Phe1874Ile)
c.5683T>A (p.Phe1895Ile)
c.5653T>A (p.Phe1885Ile)
c.5725T>A (p.Phe1909Ile)
3g.38550591G>ACA72937801SCN5Ac.5778C>T (p.Leu1926=)
c.5781C>T (p.Leu1927=)
c.5727C>T (p.Leu1909=)
c.5619C>T (p.Leu1873=)
c.5682C>T (p.Leu1894=)
c.5652C>T (p.Leu1884=)
c.5724C>T (p.Leu1908=)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38550591G>CCA433331859SCN5Ac.5778C>G (p.Leu1926=)
c.5781C>G (p.Leu1927=)
c.5727C>G (p.Leu1909=)
c.5619C>G (p.Leu1873=)
c.5682C>G (p.Leu1894=)
c.5652C>G (p.Leu1884=)
c.5724C>G (p.Leu1908=)
3g.38550591G=CA1358556161SCN5Ac.5778C= (p.Leu1926=)
c.5781C= (p.Leu1927=)
c.5727C= (p.Leu1909=)
c.5619C= (p.Leu1873=)
c.5682C= (p.Leu1894=)
c.5652C= (p.Leu1884=)
c.5724C= (p.Leu1908=)
3g.38550591G>TCA433331862SCN5Ac.5778C>A (p.Leu1926=)
c.5781C>A (p.Leu1927=)
c.5727C>A (p.Leu1909=)
c.5619C>A (p.Leu1873=)
c.5682C>A (p.Leu1894=)
c.5652C>A (p.Leu1884=)
c.5724C>A (p.Leu1908=)
3g.38550592A=CA1358556167SCN5Ac.5777T= (p.Leu1926=)
c.5780T= (p.Leu1927=)
c.5726T= (p.Leu1909=)
c.5618T= (p.Leu1873=)
c.5681T= (p.Leu1894=)
c.5651T= (p.Leu1884=)
c.5723T= (p.Leu1908=)
3g.38550592A>CCA352139975SCN5Ac.5777T>G (p.Leu1926Arg)
c.5780T>G (p.Leu1927Arg)
c.5726T>G (p.Leu1909Arg)
c.5618T>G (p.Leu1873Arg)
c.5681T>G (p.Leu1894Arg)
c.5651T>G (p.Leu1884Arg)
c.5723T>G (p.Leu1908Arg)
3g.38550592A>GCA352139973SCN5Ac.5777T>C (p.Leu1926Pro)
c.5780T>C (p.Leu1927Pro)
c.5726T>C (p.Leu1909Pro)
c.5618T>C (p.Leu1873Pro)
c.5681T>C (p.Leu1894Pro)
c.5651T>C (p.Leu1884Pro)
c.5723T>C (p.Leu1908Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38550592A>TCA352139972SCN5Ac.5777T>A (p.Leu1926His)
c.5780T>A (p.Leu1927His)
c.5726T>A (p.Leu1909His)
c.5618T>A (p.Leu1873His)
c.5681T>A (p.Leu1894His)
c.5651T>A (p.Leu1884His)
c.5723T>A (p.Leu1908His)
3g.38550593G>ACA352139977SCN5Ac.5776C>T (p.Leu1926Phe)
c.5779C>T (p.Leu1927Phe)
c.5725C>T (p.Leu1909Phe)
c.5617C>T (p.Leu1873Phe)
c.5680C>T (p.Leu1894Phe)
c.5650C>T (p.Leu1884Phe)
c.5722C>T (p.Leu1908Phe)
3g.38550593G>CCA352139978SCN5Ac.5776C>G (p.Leu1926Val)
c.5779C>G (p.Leu1927Val)
c.5725C>G (p.Leu1909Val)
c.5617C>G (p.Leu1873Val)
c.5680C>G (p.Leu1894Val)
c.5650C>G (p.Leu1884Val)
c.5722C>G (p.Leu1908Val)
3g.38550593G>TCA352139980SCN5Ac.5776C>A (p.Leu1926Ile)
c.5779C>A (p.Leu1927Ile)
c.5725C>A (p.Leu1909Ile)
c.5617C>A (p.Leu1873Ile)
c.5680C>A (p.Leu1894Ile)
c.5650C>A (p.Leu1884Ile)
c.5722C>A (p.Leu1908Ile)
3g.38550594G>ACA433331868SCN5Ac.5775C>T (p.Phe1925=)
c.5778C>T (p.Phe1926=)
c.5724C>T (p.Phe1908=)
c.5616C>T (p.Phe1872=)
c.5679C>T (p.Phe1893=)
c.5649C>T (p.Phe1883=)
c.5721C>T (p.Phe1907=)
3g.38550594G>CCA352139982SCN5Ac.5775C>G (p.Phe1925Leu)
c.5778C>G (p.Phe1926Leu)
c.5724C>G (p.Phe1908Leu)
c.5616C>G (p.Phe1872Leu)
c.5679C>G (p.Phe1893Leu)
c.5649C>G (p.Phe1883Leu)
c.5721C>G (p.Phe1907Leu)
3g.38550594G>TCA352139984SCN5Ac.5775C>A (p.Phe1925Leu)
c.5778C>A (p.Phe1926Leu)
c.5724C>A (p.Phe1908Leu)
c.5616C>A (p.Phe1872Leu)
c.5679C>A (p.Phe1893Leu)
c.5649C>A (p.Phe1883Leu)
c.5721C>A (p.Phe1907Leu)
3g.38550595A>CCA352139986SCN5Ac.5774T>G (p.Phe1925Cys)
c.5777T>G (p.Phe1926Cys)
c.5723T>G (p.Phe1908Cys)
c.5615T>G (p.Phe1872Cys)
c.5678T>G (p.Phe1893Cys)
c.5648T>G (p.Phe1883Cys)
c.5720T>G (p.Phe1907Cys)
3g.38550595A>GCA352139987SCN5Ac.5774T>C (p.Phe1925Ser)
c.5777T>C (p.Phe1926Ser)
c.5723T>C (p.Phe1908Ser)
c.5615T>C (p.Phe1872Ser)
c.5678T>C (p.Phe1893Ser)
c.5648T>C (p.Phe1883Ser)
c.5720T>C (p.Phe1907Ser)
3g.38550595A>TCA352139989SCN5Ac.5774T>A (p.Phe1925Tyr)
c.5777T>A (p.Phe1926Tyr)
c.5723T>A (p.Phe1908Tyr)
c.5615T>A (p.Phe1872Tyr)
c.5678T>A (p.Phe1893Tyr)
c.5648T>A (p.Phe1883Tyr)
c.5720T>A (p.Phe1907Tyr)
3g.38550596A>CCA352139992SCN5Ac.5773T>G (p.Phe1925Val)
c.5776T>G (p.Phe1926Val)
c.5722T>G (p.Phe1908Val)
c.5614T>G (p.Phe1872Val)
c.5677T>G (p.Phe1893Val)
c.5647T>G (p.Phe1883Val)
c.5719T>G (p.Phe1907Val)
3g.38550596A>GCA352139993SCN5Ac.5773T>C (p.Phe1925Leu)
c.5776T>C (p.Phe1926Leu)
c.5722T>C (p.Phe1908Leu)
c.5614T>C (p.Phe1872Leu)
c.5677T>C (p.Phe1893Leu)
c.5647T>C (p.Phe1883Leu)
c.5719T>C (p.Phe1907Leu)
3g.38550596A>TCA352139995SCN5Ac.5773T>A (p.Phe1925Ile)
c.5776T>A (p.Phe1926Ile)
c.5722T>A (p.Phe1908Ile)
c.5614T>A (p.Phe1872Ile)
c.5677T>A (p.Phe1893Ile)
c.5647T>A (p.Phe1883Ile)
c.5719T>A (p.Phe1907Ile)
3g.38550597G>ACA433331874SCN5Ac.5772C>T (p.Ser1924=)
c.5775C>T (p.Ser1925=)
c.5721C>T (p.Ser1907=)
c.5613C>T (p.Ser1871=)
c.5676C>T (p.Ser1892=)
c.5646C>T (p.Ser1882=)
c.5718C>T (p.Ser1906=)
ClinVar dbSNP gnomAD v4
3g.38550597G>CCA064794SCN5Ac.5772C>G (p.Ser1924=)
c.5775C>G (p.Ser1925=)
c.5721C>G (p.Ser1907=)
c.5613C>G (p.Ser1871=)
c.5676C>G (p.Ser1892=)
c.5646C>G (p.Ser1882=)
c.5718C>G (p.Ser1906=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550597G=CA1358556170SCN5Ac.5772C= (p.Ser1924=)
c.5775C= (p.Ser1925=)
c.5721C= (p.Ser1907=)
c.5613C= (p.Ser1871=)
c.5676C= (p.Ser1892=)
c.5646C= (p.Ser1882=)
c.5718C= (p.Ser1906=)
3g.38550597G>TCA433331875SCN5Ac.5772C>A (p.Ser1924=)
c.5775C>A (p.Ser1925=)
c.5721C>A (p.Ser1907=)
c.5613C>A (p.Ser1871=)
c.5676C>A (p.Ser1892=)
c.5646C>A (p.Ser1882=)
c.5718C>A (p.Ser1906=)
3g.38550598G>ACA352140002SCN5Ac.5771C>T (p.Ser1924Phe)
c.5774C>T (p.Ser1925Phe)
c.5720C>T (p.Ser1907Phe)
c.5612C>T (p.Ser1871Phe)
c.5675C>T (p.Ser1892Phe)
c.5645C>T (p.Ser1882Phe)
c.5717C>T (p.Ser1906Phe)
dbSNP gnomAD v2
3g.38550598G>CCA352140000SCN5Ac.5771C>G (p.Ser1924Cys)
c.5774C>G (p.Ser1925Cys)
c.5720C>G (p.Ser1907Cys)
c.5612C>G (p.Ser1871Cys)
c.5675C>G (p.Ser1892Cys)
c.5645C>G (p.Ser1882Cys)
c.5717C>G (p.Ser1906Cys)
3g.38550598G=CA1358556179SCN5Ac.5771C= (p.Ser1924=)
c.5774C= (p.Ser1925=)
c.5720C= (p.Ser1907=)
c.5612C= (p.Ser1871=)
c.5675C= (p.Ser1892=)
c.5645C= (p.Ser1882=)
c.5717C= (p.Ser1906=)
3g.38550598G>TCA352139998SCN5Ac.5771C>A (p.Ser1924Tyr)
c.5774C>A (p.Ser1925Tyr)
c.5720C>A (p.Ser1907Tyr)
c.5612C>A (p.Ser1871Tyr)
c.5675C>A (p.Ser1892Tyr)
c.5645C>A (p.Ser1882Tyr)
c.5717C>A (p.Ser1906Tyr)
3g.38550599A=CA1358556181SCN5Ac.5770T= (p.Ser1924=)
c.5773T= (p.Ser1925=)
c.5719T= (p.Ser1907=)
c.5611T= (p.Ser1871=)
c.5674T= (p.Ser1892=)
c.5644T= (p.Ser1882=)
c.5716T= (p.Ser1906=)
3g.38550599A>CCA352140005SCN5Ac.5770T>G (p.Ser1924Ala)
c.5773T>G (p.Ser1925Ala)
c.5719T>G (p.Ser1907Ala)
c.5611T>G (p.Ser1871Ala)
c.5674T>G (p.Ser1892Ala)
c.5644T>G (p.Ser1882Ala)
c.5716T>G (p.Ser1906Ala)
dbSNP gnomAD v3 gnomAD v4
3g.38550599A>GCA352140003SCN5Ac.5770T>C (p.Ser1924Pro)
c.5773T>C (p.Ser1925Pro)
c.5719T>C (p.Ser1907Pro)
c.5611T>C (p.Ser1871Pro)
c.5674T>C (p.Ser1892Pro)
c.5644T>C (p.Ser1882Pro)
c.5716T>C (p.Ser1906Pro)
3g.38550599A>TCA352140004SCN5Ac.5770T>A (p.Ser1924Thr)
c.5773T>A (p.Ser1925Thr)
c.5719T>A (p.Ser1907Thr)
c.5611T>A (p.Ser1871Thr)
c.5674T>A (p.Ser1892Thr)
c.5644T>A (p.Ser1882Thr)
c.5716T>A (p.Ser1906Thr)
3g.38550600G>ACA433331876SCN5Ac.5769C>T (p.Ala1923=)
c.5772C>T (p.Ala1924=)
c.5718C>T (p.Ala1906=)
c.5610C>T (p.Ala1870=)
c.5673C>T (p.Ala1891=)
c.5643C>T (p.Ala1881=)
c.5715C>T (p.Ala1905=)
3g.38550600G>CCA433331878SCN5Ac.5769C>G (p.Ala1923=)
c.5772C>G (p.Ala1924=)
c.5718C>G (p.Ala1906=)
c.5610C>G (p.Ala1870=)
c.5673C>G (p.Ala1891=)
c.5643C>G (p.Ala1881=)
c.5715C>G (p.Ala1905=)
3g.38550600G=CA1358556184SCN5Ac.5769C= (p.Ala1923=)
c.5772C= (p.Ala1924=)
c.5718C= (p.Ala1906=)
c.5610C= (p.Ala1870=)
c.5673C= (p.Ala1891=)
c.5643C= (p.Ala1881=)
c.5715C= (p.Ala1905=)
3g.38550600G>TCA433331886SCN5Ac.5769C>A (p.Ala1923=)
c.5772C>A (p.Ala1924=)
c.5718C>A (p.Ala1906=)
c.5610C>A (p.Ala1870=)
c.5673C>A (p.Ala1891=)
c.5643C>A (p.Ala1881=)
c.5715C>A (p.Ala1905=)
3g.38550601dupCA2586965721SCN5Ac.5769dup (p.Ser1924LeufsTer19)
c.5772dup (p.Ser1925LeufsTer19)
c.5718dup (p.Ser1907LeufsTer19)
c.5610dup (p.Ser1871LeufsTer19)
c.5673dup (p.Ser1892LeufsTer19)
c.5643dup (p.Ser1882LeufsTer19)
c.5715dup (p.Ser1906LeufsTer19)
gnomAD v4
3g.38550601G>ACA352140007SCN5Ac.5768C>T (p.Ala1923Val)
c.5771C>T (p.Ala1924Val)
c.5717C>T (p.Ala1906Val)
c.5609C>T (p.Ala1870Val)
c.5672C>T (p.Ala1891Val)
c.5642C>T (p.Ala1881Val)
c.5714C>T (p.Ala1905Val)
ClinVar dbSNP gnomAD v4
3g.38550601G>CCA352140008SCN5Ac.5768C>G (p.Ala1923Gly)
c.5771C>G (p.Ala1924Gly)
c.5717C>G (p.Ala1906Gly)
c.5609C>G (p.Ala1870Gly)
c.5672C>G (p.Ala1891Gly)
c.5642C>G (p.Ala1881Gly)
c.5714C>G (p.Ala1905Gly)
3g.38550601G>TCA352140009SCN5Ac.5768C>A (p.Ala1923Asp)
c.5771C>A (p.Ala1924Asp)
c.5717C>A (p.Ala1906Asp)
c.5609C>A (p.Ala1870Asp)
c.5672C>A (p.Ala1891Asp)
c.5642C>A (p.Ala1881Asp)
c.5714C>A (p.Ala1905Asp)
3g.38550603_38550606dupCA2319533SCN5Ac.5765_5768dup (p.Ser1924CysfsTer20)
c.5768_5771dup (p.Ser1925CysfsTer20)
c.5714_5717dup (p.Ser1907CysfsTer20)
c.5606_5609dup (p.Ser1871CysfsTer20)
c.5669_5672dup (p.Ser1892CysfsTer20)
c.5639_5642dup (p.Ser1882CysfsTer20)
c.5711_5714dup (p.Ser1906CysfsTer20)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550602C>ACA352140012SCN5Ac.5767G>T (p.Ala1923Ser)
c.5770G>T (p.Ala1924Ser)
c.5716G>T (p.Ala1906Ser)
c.5608G>T (p.Ala1870Ser)
c.5671G>T (p.Ala1891Ser)
c.5641G>T (p.Ala1881Ser)
c.5713G>T (p.Ala1905Ser)
ClinVar
3g.38550602C=CA1358556190SCN5Ac.5767G= (p.Ala1923=)
c.5770G= (p.Ala1924=)
c.5716G= (p.Ala1906=)
c.5608G= (p.Ala1870=)
c.5671G= (p.Ala1891=)
c.5641G= (p.Ala1881=)
c.5713G= (p.Ala1905=)
3g.38550602C>GCA352140011SCN5Ac.5767G>C (p.Ala1923Pro)
c.5770G>C (p.Ala1924Pro)
c.5716G>C (p.Ala1906Pro)
c.5608G>C (p.Ala1870Pro)
c.5671G>C (p.Ala1891Pro)
c.5641G>C (p.Ala1881Pro)
c.5713G>C (p.Ala1905Pro)
3g.38550602C>TCA019460SCN5Ac.5767G>A (p.Ala1923Thr)
c.5770G>A (p.Ala1924Thr)
c.5716G>A (p.Ala1906Thr)
c.5608G>A (p.Ala1870Thr)
c.5671G>A (p.Ala1891Thr)
c.5641G>A (p.Ala1881Thr)
c.5713G>A (p.Ala1905Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550603A=CA1358556193SCN5Ac.5766T= (p.His1922=)
c.5769T= (p.His1923=)
c.5715T= (p.His1905=)
c.5607T= (p.His1869=)
c.5670T= (p.His1890=)
c.5640T= (p.His1880=)
c.5712T= (p.His1904=)
3g.38550603A>CCA352140014SCN5Ac.5766T>G (p.His1922Gln)
c.5769T>G (p.His1923Gln)
c.5715T>G (p.His1905Gln)
c.5607T>G (p.His1869Gln)
c.5670T>G (p.His1890Gln)
c.5640T>G (p.His1880Gln)
c.5712T>G (p.His1904Gln)
dbSNP
3g.38550603A>GCA433331901SCN5Ac.5766T>C (p.His1922=)
c.5769T>C (p.His1923=)
c.5715T>C (p.His1905=)
c.5607T>C (p.His1869=)
c.5670T>C (p.His1890=)
c.5640T>C (p.His1880=)
c.5712T>C (p.His1904=)
gnomAD v4
3g.38550603A>TCA352140016SCN5Ac.5766T>A (p.His1922Gln)
c.5769T>A (p.His1923Gln)
c.5715T>A (p.His1905Gln)
c.5607T>A (p.His1869Gln)
c.5670T>A (p.His1890Gln)
c.5640T>A (p.His1880Gln)
c.5712T>A (p.His1904Gln)
3g.38550604T>ACA352140018SCN5Ac.5765A>T (p.His1922Leu)
c.5768A>T (p.His1923Leu)
c.5714A>T (p.His1905Leu)
c.5606A>T (p.His1869Leu)
c.5669A>T (p.His1890Leu)
c.5639A>T (p.His1880Leu)
c.5711A>T (p.His1904Leu)
3g.38550604T>CCA72937805SCN5Ac.5765A>G (p.His1922Arg)
c.5768A>G (p.His1923Arg)
c.5714A>G (p.His1905Arg)
c.5606A>G (p.His1869Arg)
c.5669A>G (p.His1890Arg)
c.5639A>G (p.His1880Arg)
c.5711A>G (p.His1904Arg)
dbSNP gnomAD v4
3g.38550604T>GCA352140021SCN5Ac.5765A>C (p.His1922Pro)
c.5768A>C (p.His1923Pro)
c.5714A>C (p.His1905Pro)
c.5606A>C (p.His1869Pro)
c.5669A>C (p.His1890Pro)
c.5639A>C (p.His1880Pro)
c.5711A>C (p.His1904Pro)
3g.38550604T=CA1358556196SCN5Ac.5765A= (p.His1922=)
c.5768A= (p.His1923=)
c.5714A= (p.His1905=)
c.5606A= (p.His1869=)
c.5669A= (p.His1890=)
c.5639A= (p.His1880=)
c.5711A= (p.His1904=)
3g.38550605G>ACA064781SCN5Ac.5764C>T (p.His1922Tyr)
c.5767C>T (p.His1923Tyr)
c.5713C>T (p.His1905Tyr)
c.5605C>T (p.His1869Tyr)
c.5668C>T (p.His1890Tyr)
c.5638C>T (p.His1880Tyr)
c.5710C>T (p.His1904Tyr)
ClinVar dbSNP ExAC gnomAD v4
3g.38550605G>CCA352140026SCN5Ac.5764C>G (p.His1922Asp)
c.5767C>G (p.His1923Asp)
c.5713C>G (p.His1905Asp)
c.5605C>G (p.His1869Asp)
c.5668C>G (p.His1890Asp)
c.5638C>G (p.His1880Asp)
c.5710C>G (p.His1904Asp)
dbSNP
3g.38550605G=CA1358556199SCN5Ac.5764C= (p.His1922=)
c.5767C= (p.His1923=)
c.5713C= (p.His1905=)
c.5605C= (p.His1869=)
c.5668C= (p.His1890=)
c.5638C= (p.His1880=)
c.5710C= (p.His1904=)
3g.38550605G>TCA352140024SCN5Ac.5764C>A (p.His1922Asn)
c.5767C>A (p.His1923Asn)
c.5713C>A (p.His1905Asn)
c.5605C>A (p.His1869Asn)
c.5668C>A (p.His1890Asn)
c.5638C>A (p.His1880Asn)
c.5710C>A (p.His1904Asn)
3g.38550606C>ACA352140027SCN5Ac.5763G>T (p.Lys1921Asn)
c.5766G>T (p.Lys1922Asn)
c.5712G>T (p.Lys1904Asn)
c.5604G>T (p.Lys1868Asn)
c.5667G>T (p.Lys1889Asn)
c.5637G>T (p.Lys1879Asn)
c.5709G>T (p.Lys1903Asn)
3g.38550606C=CA1358556206SCN5Ac.5763G= (p.Lys1921=)
c.5766G= (p.Lys1922=)
c.5712G= (p.Lys1904=)
c.5604G= (p.Lys1868=)
c.5667G= (p.Lys1889=)
c.5637G= (p.Lys1879=)
c.5709G= (p.Lys1903=)
3g.38550606C>GCA352140029SCN5Ac.5763G>C (p.Lys1921Asn)
c.5766G>C (p.Lys1922Asn)
c.5712G>C (p.Lys1904Asn)
c.5604G>C (p.Lys1868Asn)
c.5667G>C (p.Lys1889Asn)
c.5637G>C (p.Lys1879Asn)
c.5709G>C (p.Lys1903Asn)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38550606C>TCA064775SCN5Ac.5763G>A (p.Lys1921=)
c.5766G>A (p.Lys1922=)
c.5712G>A (p.Lys1904=)
c.5604G>A (p.Lys1868=)
c.5667G>A (p.Lys1889=)
c.5637G>A (p.Lys1879=)
c.5709G>A (p.Lys1903=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38550607T>ACA352140031SCN5Ac.5762A>T (p.Lys1921Met)
c.5765A>T (p.Lys1922Met)
c.5711A>T (p.Lys1904Met)
c.5603A>T (p.Lys1868Met)
c.5666A>T (p.Lys1889Met)
c.5636A>T (p.Lys1879Met)
c.5708A>T (p.Lys1903Met)
3g.38550607T>CCA352140032SCN5Ac.5762A>G (p.Lys1921Arg)
c.5765A>G (p.Lys1922Arg)
c.5711A>G (p.Lys1904Arg)
c.5603A>G (p.Lys1868Arg)
c.5666A>G (p.Lys1889Arg)
c.5636A>G (p.Lys1879Arg)
c.5708A>G (p.Lys1903Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38550607T>GCA352140034SCN5Ac.5762A>C (p.Lys1921Thr)
c.5765A>C (p.Lys1922Thr)
c.5711A>C (p.Lys1904Thr)
c.5603A>C (p.Lys1868Thr)
c.5666A>C (p.Lys1889Thr)
c.5636A>C (p.Lys1879Thr)
c.5708A>C (p.Lys1903Thr)
3g.38550607T=CA1358556212SCN5Ac.5762A= (p.Lys1921=)
c.5765A= (p.Lys1922=)
c.5711A= (p.Lys1904=)
c.5603A= (p.Lys1868=)
c.5666A= (p.Lys1889=)
c.5636A= (p.Lys1879=)
c.5708A= (p.Lys1903=)
3g.38550607_38550608delCA2586965723SCN5Ac.5761_5762del (p.Lys1921AlafsTer21)
c.5764_5765del (p.Lys1922AlafsTer21)
c.5710_5711del (p.Lys1904AlafsTer21)
c.5602_5603del (p.Lys1868AlafsTer21)
c.5665_5666del (p.Lys1889AlafsTer21)
c.5635_5636del (p.Lys1879AlafsTer21)
c.5707_5708del (p.Lys1903AlafsTer21)
gnomAD v4
3g.38550608T>ACA352140036SCN5Ac.5761A>T (p.Lys1921Ter)
c.5764A>T (p.Lys1922Ter)
c.5710A>T (p.Lys1904Ter)
c.5602A>T (p.Lys1868Ter)
c.5665A>T (p.Lys1889Ter)
c.5635A>T (p.Lys1879Ter)
c.5707A>T (p.Lys1903Ter)
dbSNP
3g.38550608T>CCA352140038SCN5Ac.5761A>G (p.Lys1921Glu)
c.5764A>G (p.Lys1922Glu)
c.5710A>G (p.Lys1904Glu)
c.5602A>G (p.Lys1868Glu)
c.5665A>G (p.Lys1889Glu)
c.5635A>G (p.Lys1879Glu)
c.5707A>G (p.Lys1903Glu)
3g.38550608T>GCA352140040SCN5Ac.5761A>C (p.Lys1921Gln)
c.5764A>C (p.Lys1922Gln)
c.5710A>C (p.Lys1904Gln)
c.5602A>C (p.Lys1868Gln)
c.5665A>C (p.Lys1889Gln)
c.5635A>C (p.Lys1879Gln)
c.5707A>C (p.Lys1903Gln)
3g.38550608T=CA1358556219SCN5Ac.5761A= (p.Lys1921=)
c.5764A= (p.Lys1922=)
c.5710A= (p.Lys1904=)
c.5602A= (p.Lys1868=)
c.5665A= (p.Lys1889=)
c.5635A= (p.Lys1879=)
c.5707A= (p.Lys1903=)
3g.38550609C>ACA352140042SCN5Ac.5760G>T (p.Leu1920Phe)
c.5763G>T (p.Leu1921Phe)
c.5709G>T (p.Leu1903Phe)
c.5601G>T (p.Leu1867Phe)
c.5664G>T (p.Leu1888Phe)
c.5634G>T (p.Leu1878Phe)
c.5706G>T (p.Leu1902Phe)
3g.38550609C>GCA352140044SCN5Ac.5760G>C (p.Leu1920Phe)
c.5763G>C (p.Leu1921Phe)
c.5709G>C (p.Leu1903Phe)
c.5601G>C (p.Leu1867Phe)
c.5664G>C (p.Leu1888Phe)
c.5634G>C (p.Leu1878Phe)
c.5706G>C (p.Leu1902Phe)
3g.38550609C>TCA433331923SCN5Ac.5760G>A (p.Leu1920=)
c.5763G>A (p.Leu1921=)
c.5709G>A (p.Leu1903=)
c.5601G>A (p.Leu1867=)
c.5664G>A (p.Leu1888=)
c.5634G>A (p.Leu1878=)
c.5706G>A (p.Leu1902=)
3g.38550610A=CA1358556223SCN5Ac.5759T= (p.Leu1920=)
c.5762T= (p.Leu1921=)
c.5708T= (p.Leu1903=)
c.5600T= (p.Leu1867=)
c.5663T= (p.Leu1888=)
c.5633T= (p.Leu1878=)
c.5705T= (p.Leu1902=)
3g.38550610A>CCA352140048SCN5Ac.5759T>G (p.Leu1920Trp)
c.5762T>G (p.Leu1921Trp)
c.5708T>G (p.Leu1903Trp)
c.5600T>G (p.Leu1867Trp)
c.5663T>G (p.Leu1888Trp)
c.5633T>G (p.Leu1878Trp)
c.5705T>G (p.Leu1902Trp)
dbSNP
3g.38550610A>GCA352140049SCN5Ac.5759T>C (p.Leu1920Ser)
c.5762T>C (p.Leu1921Ser)
c.5708T>C (p.Leu1903Ser)
c.5600T>C (p.Leu1867Ser)
c.5663T>C (p.Leu1888Ser)
c.5633T>C (p.Leu1878Ser)
c.5705T>C (p.Leu1902Ser)
ClinVar
3g.38550610A>TCA352140046SCN5Ac.5759T>A (p.Leu1920Ter)
c.5762T>A (p.Leu1921Ter)
c.5708T>A (p.Leu1903Ter)
c.5600T>A (p.Leu1867Ter)
c.5663T>A (p.Leu1888Ter)
c.5633T>A (p.Leu1878Ter)
c.5705T>A (p.Leu1902Ter)
dbSNP
3g.38550611A>CCA352140051SCN5Ac.5758T>G (p.Leu1920Val)
c.5761T>G (p.Leu1921Val)
c.5707T>G (p.Leu1903Val)
c.5599T>G (p.Leu1867Val)
c.5662T>G (p.Leu1888Val)
c.5632T>G (p.Leu1878Val)
c.5704T>G (p.Leu1902Val)
3g.38550611A>GCA433331925SCN5Ac.5758T>C (p.Leu1920=)
c.5761T>C (p.Leu1921=)
c.5707T>C (p.Leu1903=)
c.5599T>C (p.Leu1867=)
c.5662T>C (p.Leu1888=)
c.5632T>C (p.Leu1878=)
c.5704T>C (p.Leu1902=)
3g.38550611A>TCA352140053SCN5Ac.5758T>A (p.Leu1920Met)
c.5761T>A (p.Leu1921Met)
c.5707T>A (p.Leu1903Met)
c.5599T>A (p.Leu1867Met)
c.5662T>A (p.Leu1888Met)
c.5632T>A (p.Leu1878Met)
c.5704T>A (p.Leu1902Met)
3g.38550612A>CCA433331930SCN5Ac.5757T>G (p.Ser1919=)
c.5760T>G (p.Ser1920=)
c.5706T>G (p.Ser1902=)
c.5598T>G (p.Ser1866=)
c.5661T>G (p.Ser1887=)
c.5631T>G (p.Ser1877=)
c.5703T>G (p.Ser1901=)
COSMIC COSMIC COSMIC
3g.38550612A>GCA433331932SCN5Ac.5757T>C (p.Ser1919=)
c.5760T>C (p.Ser1920=)
c.5706T>C (p.Ser1902=)
c.5598T>C (p.Ser1866=)
c.5661T>C (p.Ser1887=)
c.5631T>C (p.Ser1877=)
c.5703T>C (p.Ser1901=)
3g.38550612A>TCA433331933SCN5Ac.5757T>A (p.Ser1919=)
c.5760T>A (p.Ser1920=)
c.5706T>A (p.Ser1902=)
c.5598T>A (p.Ser1866=)
c.5661T>A (p.Ser1887=)
c.5631T>A (p.Ser1877=)
c.5703T>A (p.Ser1901=)
3g.38550613G>ACA352140055SCN5Ac.5756C>T (p.Ser1919Phe)
c.5759C>T (p.Ser1920Phe)
c.5705C>T (p.Ser1902Phe)
c.5597C>T (p.Ser1866Phe)
c.5660C>T (p.Ser1887Phe)
c.5630C>T (p.Ser1877Phe)
c.5702C>T (p.Ser1901Phe)
ClinVar dbSNP gnomAD v4
3g.38550613G>CCA064767SCN5Ac.5756C>G (p.Ser1919Cys)
c.5759C>G (p.Ser1920Cys)
c.5705C>G (p.Ser1902Cys)
c.5597C>G (p.Ser1866Cys)
c.5660C>G (p.Ser1887Cys)
c.5630C>G (p.Ser1877Cys)
c.5702C>G (p.Ser1901Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38550613G=CA1358556226SCN5Ac.5756C= (p.Ser1919=)
c.5759C= (p.Ser1920=)
c.5705C= (p.Ser1902=)
c.5597C= (p.Ser1866=)
c.5660C= (p.Ser1887=)
c.5630C= (p.Ser1877=)
c.5702C= (p.Ser1901=)
3g.38550613G>TCA352140057SCN5Ac.5756C>A (p.Ser1919Tyr)
c.5759C>A (p.Ser1920Tyr)
c.5705C>A (p.Ser1902Tyr)
c.5597C>A (p.Ser1866Tyr)
c.5660C>A (p.Ser1887Tyr)
c.5630C>A (p.Ser1877Tyr)
c.5702C>A (p.Ser1901Tyr)
3g.38550614A=CA1358556228SCN5Ac.5755T= (p.Ser1919=)
c.5758T= (p.Ser1920=)
c.5704T= (p.Ser1902=)
c.5596T= (p.Ser1866=)
c.5659T= (p.Ser1887=)
c.5629T= (p.Ser1877=)
c.5701T= (p.Ser1901=)
3g.38550614A>CCA352140059SCN5Ac.5755T>G (p.Ser1919Ala)
c.5758T>G (p.Ser1920Ala)
c.5704T>G (p.Ser1902Ala)
c.5596T>G (p.Ser1866Ala)
c.5659T>G (p.Ser1887Ala)
c.5629T>G (p.Ser1877Ala)
c.5701T>G (p.Ser1901Ala)
ClinVar dbSNP
3g.38550614A>GCA352140060SCN5Ac.5755T>C (p.Ser1919Pro)
c.5758T>C (p.Ser1920Pro)
c.5704T>C (p.Ser1902Pro)
c.5596T>C (p.Ser1866Pro)
c.5659T>C (p.Ser1887Pro)
c.5629T>C (p.Ser1877Pro)
c.5701T>C (p.Ser1901Pro)
ClinVar dbSNP
3g.38550614A>TCA352140062SCN5Ac.5755T>A (p.Ser1919Thr)
c.5758T>A (p.Ser1920Thr)
c.5704T>A (p.Ser1902Thr)
c.5596T>A (p.Ser1866Thr)
c.5659T>A (p.Ser1887Thr)
c.5629T>A (p.Ser1877Thr)
c.5701T>A (p.Ser1901Thr)
3g.38550615G>ACA433331939SCN5Ac.5754C>T (p.Arg1918=)
c.5757C>T (p.Arg1919=)
c.5703C>T (p.Arg1901=)
c.5595C>T (p.Arg1865=)
c.5658C>T (p.Arg1886=)
c.5628C>T (p.Arg1876=)
c.5700C>T (p.Arg1900=)
ClinVar gnomAD v4
3g.38550615G>CCA433331941SCN5Ac.5754C>G (p.Arg1918=)
c.5757C>G (p.Arg1919=)
c.5703C>G (p.Arg1901=)
c.5595C>G (p.Arg1865=)
c.5658C>G (p.Arg1886=)
c.5628C>G (p.Arg1876=)
c.5700C>G (p.Arg1900=)
3g.38550615G>TCA433331942SCN5Ac.5754C>A (p.Arg1918=)
c.5757C>A (p.Arg1919=)
c.5703C>A (p.Arg1901=)
c.5595C>A (p.Arg1865=)
c.5658C>A (p.Arg1886=)
c.5628C>A (p.Arg1876=)
c.5700C>A (p.Arg1900=)
3g.38550616C>ACA352140064SCN5Ac.5753G>T (p.Arg1918Leu)
c.5756G>T (p.Arg1919Leu)
c.5702G>T (p.Arg1901Leu)
c.5594G>T (p.Arg1865Leu)
c.5657G>T (p.Arg1886Leu)
c.5627G>T (p.Arg1876Leu)
c.5699G>T (p.Arg1900Leu)
3g.38550616C=CA1358556232SCN5Ac.5753G= (p.Arg1918=)
c.5756G= (p.Arg1919=)
c.5702G= (p.Arg1901=)
c.5594G= (p.Arg1865=)
c.5657G= (p.Arg1886=)
c.5627G= (p.Arg1876=)
c.5699G= (p.Arg1900=)
3g.38550616C>GCA352140065SCN5Ac.5753G>C (p.Arg1918Pro)
c.5756G>C (p.Arg1919Pro)
c.5702G>C (p.Arg1901Pro)
c.5594G>C (p.Arg1865Pro)
c.5657G>C (p.Arg1886Pro)
c.5627G>C (p.Arg1876Pro)
c.5699G>C (p.Arg1900Pro)
ClinVar dbSNP
3g.38550616C>TCA064762SCN5Ac.5753G>A (p.Arg1918His)
c.5756G>A (p.Arg1919His)
c.5702G>A (p.Arg1901His)
c.5594G>A (p.Arg1865His)
c.5657G>A (p.Arg1886His)
c.5627G>A (p.Arg1876His)
c.5699G>A (p.Arg1900His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550617G>ACA019455SCN5Ac.5752C>T (p.Arg1918Cys)
c.5755C>T (p.Arg1919Cys)
c.5701C>T (p.Arg1901Cys)
c.5593C>T (p.Arg1865Cys)
c.5656C>T (p.Arg1886Cys)
c.5626C>T (p.Arg1876Cys)
c.5698C>T (p.Arg1900Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550617G>CCA352140068SCN5Ac.5752C>G (p.Arg1918Gly)
c.5755C>G (p.Arg1919Gly)
c.5701C>G (p.Arg1901Gly)
c.5593C>G (p.Arg1865Gly)
c.5656C>G (p.Arg1886Gly)
c.5626C>G (p.Arg1876Gly)
c.5698C>G (p.Arg1900Gly)
3g.38550617G=CA1358556241SCN5Ac.5752C= (p.Arg1918=)
c.5755C= (p.Arg1919=)
c.5701C= (p.Arg1901=)
c.5593C= (p.Arg1865=)
c.5656C= (p.Arg1886=)
c.5626C= (p.Arg1876=)
c.5698C= (p.Arg1900=)
3g.38550617G>TCA352140069SCN5Ac.5752C>A (p.Arg1918Ser)
c.5755C>A (p.Arg1919Ser)
c.5701C>A (p.Arg1901Ser)
c.5593C>A (p.Arg1865Ser)
c.5656C>A (p.Arg1886Ser)
c.5626C>A (p.Arg1876Ser)
c.5698C>A (p.Arg1900Ser)
3g.38550618T>ACA352140072SCN5Ac.5751A>T (p.Gln1917His)
c.5754A>T (p.Gln1918His)
c.5700A>T (p.Gln1900His)
c.5592A>T (p.Gln1864His)
c.5655A>T (p.Gln1885His)
c.5625A>T (p.Gln1875His)
c.5697A>T (p.Gln1899His)
3g.38550618T>CCA433331946SCN5Ac.5751A>G (p.Gln1917=)
c.5754A>G (p.Gln1918=)
c.5700A>G (p.Gln1900=)
c.5592A>G (p.Gln1864=)
c.5655A>G (p.Gln1885=)
c.5625A>G (p.Gln1875=)
c.5697A>G (p.Gln1899=)
3g.38550618T>GCA352140070SCN5Ac.5751A>C (p.Gln1917His)
c.5754A>C (p.Gln1918His)
c.5700A>C (p.Gln1900His)
c.5592A>C (p.Gln1864His)
c.5655A>C (p.Gln1885His)
c.5625A>C (p.Gln1875His)
c.5697A>C (p.Gln1899His)
3g.38550619T>ACA352140074SCN5Ac.5750A>T (p.Gln1917Leu)
c.5753A>T (p.Gln1918Leu)
c.5699A>T (p.Gln1900Leu)
c.5591A>T (p.Gln1864Leu)
c.5654A>T (p.Gln1885Leu)
c.5624A>T (p.Gln1875Leu)
c.5696A>T (p.Gln1899Leu)
3g.38550619T>CCA10582186SCN5Ac.5750A>G (p.Gln1917Arg)
c.5753A>G (p.Gln1918Arg)
c.5699A>G (p.Gln1900Arg)
c.5591A>G (p.Gln1864Arg)
c.5654A>G (p.Gln1885Arg)
c.5624A>G (p.Gln1875Arg)
c.5696A>G (p.Gln1899Arg)
ClinVar dbSNP
3g.38550619T>GCA352140076SCN5Ac.5750A>C (p.Gln1917Pro)
c.5753A>C (p.Gln1918Pro)
c.5699A>C (p.Gln1900Pro)
c.5591A>C (p.Gln1864Pro)
c.5654A>C (p.Gln1885Pro)
c.5624A>C (p.Gln1875Pro)
c.5696A>C (p.Gln1899Pro)
3g.38550619T=CA1358556244SCN5Ac.5750A= (p.Gln1917=)
c.5753A= (p.Gln1918=)
c.5699A= (p.Gln1900=)
c.5591A= (p.Gln1864=)
c.5654A= (p.Gln1885=)
c.5624A= (p.Gln1875=)
c.5696A= (p.Gln1899=)
3g.38550620G>ACA352140079SCN5Ac.5749C>T (p.Gln1917Ter)
c.5752C>T (p.Gln1918Ter)
c.5698C>T (p.Gln1900Ter)
c.5590C>T (p.Gln1864Ter)
c.5653C>T (p.Gln1885Ter)
c.5623C>T (p.Gln1875Ter)
c.5695C>T (p.Gln1899Ter)
3g.38550620G>CCA352140081SCN5Ac.5749C>G (p.Gln1917Glu)
c.5752C>G (p.Gln1918Glu)
c.5698C>G (p.Gln1900Glu)
c.5590C>G (p.Gln1864Glu)
c.5653C>G (p.Gln1885Glu)
c.5623C>G (p.Gln1875Glu)
c.5695C>G (p.Gln1899Glu)
3g.38550620G>TCA352140083SCN5Ac.5749C>A (p.Gln1917Lys)
c.5752C>A (p.Gln1918Lys)
c.5698C>A (p.Gln1900Lys)
c.5590C>A (p.Gln1864Lys)
c.5653C>A (p.Gln1885Lys)
c.5623C>A (p.Gln1875Lys)
c.5695C>A (p.Gln1899Lys)
3g.38550621C>ACA433331948SCN5Ac.5748G>T (p.Leu1916=)
c.5751G>T (p.Leu1917=)
c.5697G>T (p.Leu1899=)
c.5589G>T (p.Leu1863=)
c.5652G>T (p.Leu1884=)
c.5622G>T (p.Leu1874=)
c.5694G>T (p.Leu1898=)
3g.38550621C>GCA433331950SCN5Ac.5748G>C (p.Leu1916=)
c.5751G>C (p.Leu1917=)
c.5697G>C (p.Leu1899=)
c.5589G>C (p.Leu1863=)
c.5652G>C (p.Leu1884=)
c.5622G>C (p.Leu1874=)
c.5694G>C (p.Leu1898=)
3g.38550621C>TCA433331951SCN5Ac.5748G>A (p.Leu1916=)
c.5751G>A (p.Leu1917=)
c.5697G>A (p.Leu1899=)
c.5589G>A (p.Leu1863=)
c.5652G>A (p.Leu1884=)
c.5622G>A (p.Leu1874=)
c.5694G>A (p.Leu1898=)
ClinVar dbSNP gnomAD v4
3g.38550622A=CA1358556251SCN5Ac.5747T= (p.Leu1916=)
c.5750T= (p.Leu1917=)
c.5696T= (p.Leu1899=)
c.5588T= (p.Leu1863=)
c.5651T= (p.Leu1884=)
c.5621T= (p.Leu1874=)
c.5693T= (p.Leu1898=)
3g.38550622A>CCA352140085SCN5Ac.5747T>G (p.Leu1916Arg)
c.5750T>G (p.Leu1917Arg)
c.5696T>G (p.Leu1899Arg)
c.5588T>G (p.Leu1863Arg)
c.5651T>G (p.Leu1884Arg)
c.5621T>G (p.Leu1874Arg)
c.5693T>G (p.Leu1898Arg)
3g.38550622A>GCA064751SCN5Ac.5747T>C (p.Leu1916Pro)
c.5750T>C (p.Leu1917Pro)
c.5696T>C (p.Leu1899Pro)
c.5588T>C (p.Leu1863Pro)
c.5651T>C (p.Leu1884Pro)
c.5621T>C (p.Leu1874Pro)
c.5693T>C (p.Leu1898Pro)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
3g.38550622A>TCA352140086SCN5Ac.5747T>A (p.Leu1916Gln)
c.5750T>A (p.Leu1917Gln)
c.5696T>A (p.Leu1899Gln)
c.5588T>A (p.Leu1863Gln)
c.5651T>A (p.Leu1884Gln)
c.5621T>A (p.Leu1874Gln)
c.5693T>A (p.Leu1898Gln)
3g.38550623G>ACA433331955SCN5Ac.5746C>T (p.Leu1916=)
c.5749C>T (p.Leu1917=)
c.5695C>T (p.Leu1899=)
c.5587C>T (p.Leu1863=)
c.5650C>T (p.Leu1884=)
c.5620C>T (p.Leu1874=)
c.5692C>T (p.Leu1898=)
3g.38550623G>CCA352140087SCN5Ac.5746C>G (p.Leu1916Val)
c.5749C>G (p.Leu1917Val)
c.5695C>G (p.Leu1899Val)
c.5587C>G (p.Leu1863Val)
c.5650C>G (p.Leu1884Val)
c.5620C>G (p.Leu1874Val)
c.5692C>G (p.Leu1898Val)
3g.38550623G>TCA352140088SCN5Ac.5746C>A (p.Leu1916Met)
c.5749C>A (p.Leu1917Met)
c.5695C>A (p.Leu1899Met)
c.5587C>A (p.Leu1863Met)
c.5650C>A (p.Leu1884Met)
c.5620C>A (p.Leu1874Met)
c.5692C>A (p.Leu1898Met)
3g.38550624C>ACA433331958SCN5Ac.5745G>T (p.Leu1915=)
c.5748G>T (p.Leu1916=)
c.5694G>T (p.Leu1898=)
c.5586G>T (p.Leu1862=)
c.5649G>T (p.Leu1883=)
c.5619G>T (p.Leu1873=)
c.5691G>T (p.Leu1897=)
3g.38550624C=CA1358556255SCN5Ac.5745G= (p.Leu1915=)
c.5748G= (p.Leu1916=)
c.5694G= (p.Leu1898=)
c.5586G= (p.Leu1862=)
c.5649G= (p.Leu1883=)
c.5619G= (p.Leu1873=)
c.5691G= (p.Leu1897=)
3g.38550624C>GCA72937826SCN5Ac.5745G>C (p.Leu1915=)
c.5748G>C (p.Leu1916=)
c.5694G>C (p.Leu1898=)
c.5586G>C (p.Leu1862=)
c.5649G>C (p.Leu1883=)
c.5619G>C (p.Leu1873=)
c.5691G>C (p.Leu1897=)
dbSNP gnomAD v4
3g.38550624C>TCA433331962SCN5Ac.5745G>A (p.Leu1915=)
c.5748G>A (p.Leu1916=)
c.5694G>A (p.Leu1898=)
c.5586G>A (p.Leu1862=)
c.5649G>A (p.Leu1883=)
c.5619G>A (p.Leu1873=)
c.5691G>A (p.Leu1897=)
3g.38550625A>CCA352140093SCN5Ac.5744T>G (p.Leu1915Arg)
c.5747T>G (p.Leu1916Arg)
c.5693T>G (p.Leu1898Arg)
c.5585T>G (p.Leu1862Arg)
c.5648T>G (p.Leu1883Arg)
c.5618T>G (p.Leu1873Arg)
c.5690T>G (p.Leu1897Arg)
3g.38550625A>GCA352140091SCN5Ac.5744T>C (p.Leu1915Pro)
c.5747T>C (p.Leu1916Pro)
c.5693T>C (p.Leu1898Pro)
c.5585T>C (p.Leu1862Pro)
c.5648T>C (p.Leu1883Pro)
c.5618T>C (p.Leu1873Pro)
c.5690T>C (p.Leu1897Pro)
3g.38550625A>TCA352140090SCN5Ac.5744T>A (p.Leu1915Gln)
c.5747T>A (p.Leu1916Gln)
c.5693T>A (p.Leu1898Gln)
c.5585T>A (p.Leu1862Gln)
c.5648T>A (p.Leu1883Gln)
c.5618T>A (p.Leu1873Gln)
c.5690T>A (p.Leu1897Gln)
3g.38550626G>ACA433331964SCN5Ac.5743C>T (p.Leu1915=)
c.5746C>T (p.Leu1916=)
c.5692C>T (p.Leu1898=)
c.5584C>T (p.Leu1862=)
c.5647C>T (p.Leu1883=)
c.5617C>T (p.Leu1873=)
c.5689C>T (p.Leu1897=)
3g.38550626G>CCA352140095SCN5Ac.5743C>G (p.Leu1915Val)
c.5746C>G (p.Leu1916Val)
c.5692C>G (p.Leu1898Val)
c.5584C>G (p.Leu1862Val)
c.5647C>G (p.Leu1883Val)
c.5617C>G (p.Leu1873Val)
c.5689C>G (p.Leu1897Val)
3g.38550626G>TCA352140097SCN5Ac.5743C>A (p.Leu1915Met)
c.5746C>A (p.Leu1916Met)
c.5692C>A (p.Leu1898Met)
c.5584C>A (p.Leu1862Met)
c.5647C>A (p.Leu1883Met)
c.5617C>A (p.Leu1873Met)
c.5689C>A (p.Leu1897Met)
3g.38550627G>ACA433331968SCN5Ac.5742C>T (p.His1914=)
c.5745C>T (p.His1915=)
c.5691C>T (p.His1897=)
c.5583C>T (p.His1861=)
c.5646C>T (p.His1882=)
c.5616C>T (p.His1872=)
c.5688C>T (p.His1896=)
dbSNP gnomAD v2 gnomAD v4
3g.38550627G>CCA352140098SCN5Ac.5742C>G (p.His1914Gln)
c.5745C>G (p.His1915Gln)
c.5691C>G (p.His1897Gln)
c.5583C>G (p.His1861Gln)
c.5646C>G (p.His1882Gln)
c.5616C>G (p.His1872Gln)
c.5688C>G (p.His1896Gln)
gnomAD v4
3g.38550627G=CA1358556260SCN5Ac.5742C= (p.His1914=)
c.5745C= (p.His1915=)
c.5691C= (p.His1897=)
c.5583C= (p.His1861=)
c.5646C= (p.His1882=)
c.5616C= (p.His1872=)
c.5688C= (p.His1896=)
3g.38550627G>TCA352140100SCN5Ac.5742C>A (p.His1914Gln)
c.5745C>A (p.His1915Gln)
c.5691C>A (p.His1897Gln)
c.5583C>A (p.His1861Gln)
c.5646C>A (p.His1882Gln)
c.5616C>A (p.His1872Gln)
c.5688C>A (p.His1896Gln)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38550628T>ACA352140102SCN5Ac.5741A>T (p.His1914Leu)
c.5744A>T (p.His1915Leu)
c.5690A>T (p.His1897Leu)
c.5582A>T (p.His1861Leu)
c.5645A>T (p.His1882Leu)
c.5615A>T (p.His1872Leu)
c.5687A>T (p.His1896Leu)
3g.38550628T>CCA352140103SCN5Ac.5741A>G (p.His1914Arg)
c.5744A>G (p.His1915Arg)
c.5690A>G (p.His1897Arg)
c.5582A>G (p.His1861Arg)
c.5645A>G (p.His1882Arg)
c.5615A>G (p.His1872Arg)
c.5687A>G (p.His1896Arg)
3g.38550628T>GCA352140105SCN5Ac.5741A>C (p.His1914Pro)
c.5744A>C (p.His1915Pro)
c.5690A>C (p.His1897Pro)
c.5582A>C (p.His1861Pro)
c.5645A>C (p.His1882Pro)
c.5615A>C (p.His1872Pro)
c.5687A>C (p.His1896Pro)
dbSNP gnomAD v2
3g.38550628T=CA1358556267SCN5Ac.5741A= (p.His1914=)
c.5744A= (p.His1915=)
c.5690A= (p.His1897=)
c.5582A= (p.His1861=)
c.5645A= (p.His1882=)
c.5615A= (p.His1872=)
c.5687A= (p.His1896=)
3g.38550629G>ACA064745SCN5Ac.5740C>T (p.His1914Tyr)
c.5743C>T (p.His1915Tyr)
c.5689C>T (p.His1897Tyr)
c.5581C>T (p.His1861Tyr)
c.5644C>T (p.His1882Tyr)
c.5614C>T (p.His1872Tyr)
c.5686C>T (p.His1896Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550629G>CCA352140108SCN5Ac.5740C>G (p.His1914Asp)
c.5743C>G (p.His1915Asp)
c.5689C>G (p.His1897Asp)
c.5581C>G (p.His1861Asp)
c.5644C>G (p.His1882Asp)
c.5614C>G (p.His1872Asp)
c.5686C>G (p.His1896Asp)
3g.38550629G=CA1358556270SCN5Ac.5740C= (p.His1914=)
c.5743C= (p.His1915=)
c.5689C= (p.His1897=)
c.5581C= (p.His1861=)
c.5644C= (p.His1882=)
c.5614C= (p.His1872=)
c.5686C= (p.His1896=)
3g.38550629G>TCA064740SCN5Ac.5740C>A (p.His1914Asn)
c.5743C>A (p.His1915Asn)
c.5689C>A (p.His1897Asn)
c.5581C>A (p.His1861Asn)
c.5644C>A (p.His1882Asn)
c.5614C>A (p.His1872Asn)
c.5686C>A (p.His1896Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38550630C>ACA352140111SCN5Ac.5739G>T (p.Arg1913Ser)
c.5742G>T (p.Arg1914Ser)
c.5688G>T (p.Arg1896Ser)
c.5580G>T (p.Arg1860Ser)
c.5643G>T (p.Arg1881Ser)
c.5613G>T (p.Arg1871Ser)
c.5685G>T (p.Arg1895Ser)
ClinVar dbSNP
3g.38550630C=CA1358556273SCN5Ac.5739G= (p.Arg1913=)
c.5742G= (p.Arg1914=)
c.5688G= (p.Arg1896=)
c.5580G= (p.Arg1860=)
c.5643G= (p.Arg1881=)
c.5613G= (p.Arg1871=)
c.5685G= (p.Arg1895=)
3g.38550630C>GCA352140113SCN5Ac.5739G>C (p.Arg1913Ser)
c.5742G>C (p.Arg1914Ser)
c.5688G>C (p.Arg1896Ser)
c.5580G>C (p.Arg1860Ser)
c.5643G>C (p.Arg1881Ser)
c.5613G>C (p.Arg1871Ser)
c.5685G>C (p.Arg1895Ser)
3g.38550630C>TCA433331976SCN5Ac.5739G>A (p.Arg1913=)
c.5742G>A (p.Arg1914=)
c.5688G>A (p.Arg1896=)
c.5580G>A (p.Arg1860=)
c.5643G>A (p.Arg1881=)
c.5613G>A (p.Arg1871=)
c.5685G>A (p.Arg1895=)
3g.38550631C>ACA352140117SCN5Ac.5738G>T (p.Arg1913Met)
c.5741G>T (p.Arg1914Met)
c.5687G>T (p.Arg1896Met)
c.5579G>T (p.Arg1860Met)
c.5642G>T (p.Arg1881Met)
c.5612G>T (p.Arg1871Met)
c.5684G>T (p.Arg1895Met)
3g.38550631C>GCA352140115SCN5Ac.5738G>C (p.Arg1913Thr)
c.5741G>C (p.Arg1914Thr)
c.5687G>C (p.Arg1896Thr)
c.5579G>C (p.Arg1860Thr)
c.5642G>C (p.Arg1881Thr)
c.5612G>C (p.Arg1871Thr)
c.5684G>C (p.Arg1895Thr)
gnomAD v4
3g.38550631C>TCA352140114SCN5Ac.5738G>A (p.Arg1913Lys)
c.5741G>A (p.Arg1914Lys)
c.5687G>A (p.Arg1896Lys)
c.5579G>A (p.Arg1860Lys)
c.5642G>A (p.Arg1881Lys)
c.5612G>A (p.Arg1871Lys)
c.5684G>A (p.Arg1895Lys)
gnomAD v4
3g.38550632T>ACA352140118SCN5Ac.5737A>T (p.Arg1913Trp)
c.5740A>T (p.Arg1914Trp)
c.5686A>T (p.Arg1896Trp)
c.5578A>T (p.Arg1860Trp)
c.5641A>T (p.Arg1881Trp)
c.5611A>T (p.Arg1871Trp)
c.5683A>T (p.Arg1895Trp)
3g.38550632T>CCA019452SCN5Ac.5737A>G (p.Arg1913Gly)
c.5740A>G (p.Arg1914Gly)
c.5686A>G (p.Arg1896Gly)
c.5578A>G (p.Arg1860Gly)
c.5641A>G (p.Arg1881Gly)
c.5611A>G (p.Arg1871Gly)
c.5683A>G (p.Arg1895Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38550632T>GCA433331977SCN5Ac.5737A>C (p.Arg1913=)
c.5740A>C (p.Arg1914=)
c.5686A>C (p.Arg1896=)
c.5578A>C (p.Arg1860=)
c.5641A>C (p.Arg1881=)
c.5611A>C (p.Arg1871=)
c.5683A>C (p.Arg1895=)
3g.38550632T=CA1358556279SCN5Ac.5737A= (p.Arg1913=)
c.5740A= (p.Arg1914=)
c.5686A= (p.Arg1896=)
c.5578A= (p.Arg1860=)
c.5641A= (p.Arg1881=)
c.5611A= (p.Arg1871=)
c.5683A= (p.Arg1895=)
3g.38550633G>ACA433331978SCN5Ac.5736C>T (p.Arg1912=)
c.5739C>T (p.Arg1913=)
c.5685C>T (p.Arg1895=)
c.5577C>T (p.Arg1859=)
c.5640C>T (p.Arg1880=)
c.5610C>T (p.Arg1870=)
c.5682C>T (p.Arg1894=)
3g.38550633G>CCA433331980SCN5Ac.5736C>G (p.Arg1912=)
c.5739C>G (p.Arg1913=)
c.5685C>G (p.Arg1895=)
c.5577C>G (p.Arg1859=)
c.5640C>G (p.Arg1880=)
c.5610C>G (p.Arg1870=)
c.5682C>G (p.Arg1894=)
3g.38550633G>TCA433331981SCN5Ac.5736C>A (p.Arg1912=)
c.5739C>A (p.Arg1913=)
c.5685C>A (p.Arg1895=)
c.5577C>A (p.Arg1859=)
c.5640C>A (p.Arg1880=)
c.5610C>A (p.Arg1870=)
c.5682C>A (p.Arg1894=)
3g.38550634C>ACA352140121SCN5Ac.5735G>T (p.Arg1912Leu)
c.5738G>T (p.Arg1913Leu)
c.5684G>T (p.Arg1895Leu)
c.5576G>T (p.Arg1859Leu)
c.5639G>T (p.Arg1880Leu)
c.5609G>T (p.Arg1870Leu)
c.5681G>T (p.Arg1894Leu)
3g.38550634C=CA1358556286SCN5Ac.5735G= (p.Arg1912=)
c.5738G= (p.Arg1913=)
c.5684G= (p.Arg1895=)
c.5576G= (p.Arg1859=)
c.5639G= (p.Arg1880=)
c.5609G= (p.Arg1870=)
c.5681G= (p.Arg1894=)
3g.38550634C>GCA352140123SCN5Ac.5735G>C (p.Arg1912Pro)
c.5738G>C (p.Arg1913Pro)
c.5684G>C (p.Arg1895Pro)
c.5576G>C (p.Arg1859Pro)
c.5639G>C (p.Arg1880Pro)
c.5609G>C (p.Arg1870Pro)
c.5681G>C (p.Arg1894Pro)
3g.38550634C>TCA019448SCN5Ac.5735G>A (p.Arg1912His)
c.5738G>A (p.Arg1913His)
c.5684G>A (p.Arg1895His)
c.5576G>A (p.Arg1859His)
c.5639G>A (p.Arg1880His)
c.5609G>A (p.Arg1870His)
c.5681G>A (p.Arg1894His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.38550635G>ACA064715SCN5Ac.5734C>T (p.Arg1912Cys)
c.5737C>T (p.Arg1913Cys)
c.5683C>T (p.Arg1895Cys)
c.5575C>T (p.Arg1859Cys)
c.5638C>T (p.Arg1880Cys)
c.5608C>T (p.Arg1870Cys)
c.5680C>T (p.Arg1894Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38550635G>CCA352140127SCN5Ac.5734C>G (p.Arg1912Gly)
c.5737C>G (p.Arg1913Gly)
c.5683C>G (p.Arg1895Gly)
c.5575C>G (p.Arg1859Gly)
c.5638C>G (p.Arg1880Gly)
c.5608C>G (p.Arg1870Gly)
c.5680C>G (p.Arg1894Gly)
3g.38550635G=CA1358556290SCN5Ac.5734C= (p.Arg1912=)
c.5737C= (p.Arg1913=)
c.5683C= (p.Arg1895=)
c.5575C= (p.Arg1859=)
c.5638C= (p.Arg1880=)
c.5608C= (p.Arg1870=)
c.5680C= (p.Arg1894=)
3g.38550635G>TCA352140129SCN5Ac.5734C>A (p.Arg1912Ser)
c.5737C>A (p.Arg1913Ser)
c.5683C>A (p.Arg1895Ser)
c.5575C>A (p.Arg1859Ser)
c.5638C>A (p.Arg1880Ser)
c.5608C>A (p.Arg1870Ser)
c.5680C>A (p.Arg1894Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38550636G>ACA433331984SCN5Ac.5733C>T (p.Phe1911=)
c.5736C>T (p.Phe1912=)
c.5682C>T (p.Phe1894=)
c.5574C>T (p.Phe1858=)
c.5637C>T (p.Phe1879=)
c.5607C>T (p.Phe1869=)
c.5679C>T (p.Phe1893=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38550636G>CCA352140131SCN5Ac.5733C>G (p.Phe1911Leu)
c.5736C>G (p.Phe1912Leu)
c.5682C>G (p.Phe1894Leu)
c.5574C>G (p.Phe1858Leu)
c.5637C>G (p.Phe1879Leu)
c.5607C>G (p.Phe1869Leu)
c.5679C>G (p.Phe1893Leu)
3g.38550636G=CA1358556293SCN5Ac.5733C= (p.Phe1911=)
c.5736C= (p.Phe1912=)
c.5682C= (p.Phe1894=)
c.5574C= (p.Phe1858=)
c.5637C= (p.Phe1879=)
c.5607C= (p.Phe1869=)
c.5679C= (p.Phe1893=)
3g.38550636G>TCA352140133SCN5Ac.5733C>A (p.Phe1911Leu)
c.5736C>A (p.Phe1912Leu)
c.5682C>A (p.Phe1894Leu)
c.5574C>A (p.Phe1858Leu)
c.5637C>A (p.Phe1879Leu)
c.5607C>A (p.Phe1869Leu)
c.5679C>A (p.Phe1893Leu)
COSMIC COSMIC COSMIC
3g.38550637A>CCA352140135SCN5Ac.5732T>G (p.Phe1911Cys)
c.5735T>G (p.Phe1912Cys)
c.5681T>G (p.Phe1894Cys)
c.5573T>G (p.Phe1858Cys)
c.5636T>G (p.Phe1879Cys)
c.5606T>G (p.Phe1869Cys)
c.5678T>G (p.Phe1893Cys)
3g.38550637A>GCA352140136SCN5Ac.5732T>C (p.Phe1911Ser)
c.5735T>C (p.Phe1912Ser)
c.5681T>C (p.Phe1894Ser)
c.5573T>C (p.Phe1858Ser)
c.5636T>C (p.Phe1879Ser)
c.5606T>C (p.Phe1869Ser)
c.5678T>C (p.Phe1893Ser)
3g.38550637A>TCA352140138SCN5Ac.5732T>A (p.Phe1911Tyr)
c.5735T>A (p.Phe1912Tyr)
c.5681T>A (p.Phe1894Tyr)
c.5573T>A (p.Phe1858Tyr)
c.5636T>A (p.Phe1879Tyr)
c.5606T>A (p.Phe1869Tyr)
c.5678T>A (p.Phe1893Tyr)
3g.38550638A>CCA352140142SCN5Ac.5731T>G (p.Phe1911Val)
c.5734T>G (p.Phe1912Val)
c.5680T>G (p.Phe1894Val)
c.5572T>G (p.Phe1858Val)
c.5635T>G (p.Phe1879Val)
c.5605T>G (p.Phe1869Val)
c.5677T>G (p.Phe1893Val)
3g.38550638A>GCA352140143SCN5Ac.5731T>C (p.Phe1911Leu)
c.5734T>C (p.Phe1912Leu)
c.5680T>C (p.Phe1894Leu)
c.5572T>C (p.Phe1858Leu)
c.5635T>C (p.Phe1879Leu)
c.5605T>C (p.Phe1869Leu)
c.5677T>C (p.Phe1893Leu)
3g.38550638A>TCA352140140SCN5Ac.5731T>A (p.Phe1911Ile)
c.5734T>A (p.Phe1912Ile)
c.5680T>A (p.Phe1894Ile)
c.5572T>A (p.Phe1858Ile)
c.5635T>A (p.Phe1879Ile)
c.5605T>A (p.Phe1869Ile)
c.5677T>A (p.Phe1893Ile)
3g.38550639G>ACA064709SCN5Ac.5730C>T (p.Ala1910=)
c.5733C>T (p.Ala1911=)
c.5679C>T (p.Ala1893=)
c.5571C>T (p.Ala1857=)
c.5634C>T (p.Ala1878=)
c.5604C>T (p.Ala1868=)
c.5676C>T (p.Ala1892=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38550639G>CCA433331989SCN5Ac.5730C>G (p.Ala1910=)
c.5733C>G (p.Ala1911=)
c.5679C>G (p.Ala1893=)
c.5571C>G (p.Ala1857=)
c.5634C>G (p.Ala1878=)
c.5604C>G (p.Ala1868=)
c.5676C>G (p.Ala1892=)
3g.38550639G=CA1358556297SCN5Ac.5730C= (p.Ala1910=)
c.5733C= (p.Ala1911=)
c.5679C= (p.Ala1893=)
c.5571C= (p.Ala1857=)
c.5634C= (p.Ala1878=)
c.5604C= (p.Ala1868=)
c.5676C= (p.Ala1892=)
3g.38550639G>TCA433331986SCN5Ac.5730C>A (p.Ala1910=)
c.5733C>A (p.Ala1911=)
c.5679C>A (p.Ala1893=)
c.5571C>A (p.Ala1857=)
c.5634C>A (p.Ala1878=)
c.5604C>A (p.Ala1868=)
c.5676C>A (p.Ala1892=)
3g.38550640G>ACA352140146SCN5Ac.5729C>T (p.Ala1910Val)
c.5732C>T (p.Ala1911Val)
c.5678C>T (p.Ala1893Val)
c.5570C>T (p.Ala1857Val)
c.5633C>T (p.Ala1878Val)
c.5603C>T (p.Ala1868Val)
c.5675C>T (p.Ala1892Val)
3g.38550640G>CCA352140149SCN5Ac.5729C>G (p.Ala1910Gly)
c.5732C>G (p.Ala1911Gly)
c.5678C>G (p.Ala1893Gly)
c.5570C>G (p.Ala1857Gly)
c.5633C>G (p.Ala1878Gly)
c.5603C>G (p.Ala1868Gly)
c.5675C>G (p.Ala1892Gly)
ClinVar dbSNP
3g.38550640G>TCA352140147SCN5Ac.5729C>A (p.Ala1910Asp)
c.5732C>A (p.Ala1911Asp)
c.5678C>A (p.Ala1893Asp)
c.5570C>A (p.Ala1857Asp)
c.5633C>A (p.Ala1878Asp)
c.5603C>A (p.Ala1868Asp)
c.5675C>A (p.Ala1892Asp)
3g.38550641C>ACA352140152SCN5Ac.5728G>T (p.Ala1910Ser)
c.5731G>T (p.Ala1911Ser)
c.5677G>T (p.Ala1893Ser)
c.5569G>T (p.Ala1857Ser)
c.5632G>T (p.Ala1878Ser)
c.5602G>T (p.Ala1868Ser)
c.5674G>T (p.Ala1892Ser)
3g.38550641C>GCA352140156SCN5Ac.5728G>C (p.Ala1910Pro)
c.5731G>C (p.Ala1911Pro)
c.5677G>C (p.Ala1893Pro)
c.5569G>C (p.Ala1857Pro)
c.5632G>C (p.Ala1878Pro)
c.5602G>C (p.Ala1868Pro)
c.5674G>C (p.Ala1892Pro)
3g.38550641C>TCA352140153SCN5Ac.5728G>A (p.Ala1910Thr)
c.5731G>A (p.Ala1911Thr)
c.5677G>A (p.Ala1893Thr)
c.5569G>A (p.Ala1857Thr)
c.5632G>A (p.Ala1878Thr)
c.5602G>A (p.Ala1868Thr)
c.5674G>A (p.Ala1892Thr)
3g.38550642T>ACA352140158SCN5Ac.5727A>T (p.Arg1909Ser)
c.5730A>T (p.Arg1910Ser)
c.5676A>T (p.Arg1892Ser)
c.5568A>T (p.Arg1856Ser)
c.5631A>T (p.Arg1877Ser)
c.5601A>T (p.Arg1867Ser)
c.5673A>T (p.Arg1891Ser)
3g.38550642T>CCA433331994SCN5Ac.5727A>G (p.Arg1909=)
c.5730A>G (p.Arg1910=)
c.5676A>G (p.Arg1892=)
c.5568A>G (p.Arg1856=)
c.5631A>G (p.Arg1877=)
c.5601A>G (p.Arg1867=)
c.5673A>G (p.Arg1891=)
ClinVar
3g.38550642T>GCA352140160SCN5Ac.5727A>C (p.Arg1909Ser)
c.5730A>C (p.Arg1910Ser)
c.5676A>C (p.Arg1892Ser)
c.5568A>C (p.Arg1856Ser)
c.5631A>C (p.Arg1877Ser)
c.5601A>C (p.Arg1867Ser)
c.5673A>C (p.Arg1891Ser)
gnomAD v4
3g.38550643C>ACA352140162SCN5Ac.5726G>T (p.Arg1909Ile)
c.5729G>T (p.Arg1910Ile)
c.5675G>T (p.Arg1892Ile)
c.5567G>T (p.Arg1856Ile)
c.5630G>T (p.Arg1877Ile)
c.5600G>T (p.Arg1867Ile)
c.5672G>T (p.Arg1891Ile)
3g.38550643C=CA1358556301SCN5Ac.5726G= (p.Arg1909=)
c.5729G= (p.Arg1910=)
c.5675G= (p.Arg1892=)
c.5567G= (p.Arg1856=)
c.5630G= (p.Arg1877=)
c.5600G= (p.Arg1867=)
c.5672G= (p.Arg1891=)
3g.38550643C>GCA352140164SCN5Ac.5726G>C (p.Arg1909Thr)
c.5729G>C (p.Arg1910Thr)
c.5675G>C (p.Arg1892Thr)
c.5567G>C (p.Arg1856Thr)
c.5630G>C (p.Arg1877Thr)
c.5600G>C (p.Arg1867Thr)
c.5672G>C (p.Arg1891Thr)
3g.38550643C>TCA16611258SCN5Ac.5726G>A (p.Arg1909Lys)
c.5729G>A (p.Arg1910Lys)
c.5675G>A (p.Arg1892Lys)
c.5567G>A (p.Arg1856Lys)
c.5630G>A (p.Arg1877Lys)
c.5600G>A (p.Arg1867Lys)
c.5672G>A (p.Arg1891Lys)
ClinVar dbSNP gnomAD v4
3g.38550644T>ACA352140166SCN5Ac.5725A>T (p.Arg1909Ter)
c.5728A>T (p.Arg1910Ter)
c.5674A>T (p.Arg1892Ter)
c.5566A>T (p.Arg1856Ter)
c.5629A>T (p.Arg1877Ter)
c.5599A>T (p.Arg1867Ter)
c.5671A>T (p.Arg1891Ter)
3g.38550644T>CCA352140168SCN5Ac.5725A>G (p.Arg1909Gly)
c.5728A>G (p.Arg1910Gly)
c.5674A>G (p.Arg1892Gly)
c.5566A>G (p.Arg1856Gly)
c.5629A>G (p.Arg1877Gly)
c.5599A>G (p.Arg1867Gly)
c.5671A>G (p.Arg1891Gly)
3g.38550644T>GCA433331996SCN5Ac.5725A>C (p.Arg1909=)
c.5728A>C (p.Arg1910=)
c.5674A>C (p.Arg1892=)
c.5566A>C (p.Arg1856=)
c.5629A>C (p.Arg1877=)
c.5599A>C (p.Arg1867=)
c.5671A>C (p.Arg1891=)
3g.38550645C>ACA352140170SCN5Ac.5724G>T (p.Gln1908His)
c.5727G>T (p.Gln1909His)
c.5673G>T (p.Gln1891His)
c.5565G>T (p.Gln1855His)
c.5628G>T (p.Gln1876His)
c.5598G>T (p.Gln1866His)
c.5670G>T (p.Gln1890His)
3g.38550645C=CA1358556305SCN5Ac.5724G= (p.Gln1908=)
c.5727G= (p.Gln1909=)
c.5673G= (p.Gln1891=)
c.5565G= (p.Gln1855=)
c.5628G= (p.Gln1876=)
c.5598G= (p.Gln1866=)
c.5670G= (p.Gln1890=)
3g.38550645C>GCA352140172SCN5Ac.5724G>C (p.Gln1908His)
c.5727G>C (p.Gln1909His)
c.5673G>C (p.Gln1891His)
c.5565G>C (p.Gln1855His)
c.5628G>C (p.Gln1876His)
c.5598G>C (p.Gln1866His)
c.5670G>C (p.Gln1890His)
3g.38550645C>TCA433331998SCN5Ac.5724G>A (p.Gln1908=)
c.5727G>A (p.Gln1909=)
c.5673G>A (p.Gln1891=)
c.5565G>A (p.Gln1855=)
c.5628G>A (p.Gln1876=)
c.5598G>A (p.Gln1866=)
c.5670G>A (p.Gln1890=)
dbSNP COSMIC COSMIC COSMIC
3g.38550646T>ACA352140174SCN5Ac.5723A>T (p.Gln1908Leu)
c.5726A>T (p.Gln1909Leu)
c.5672A>T (p.Gln1891Leu)
c.5564A>T (p.Gln1855Leu)
c.5627A>T (p.Gln1876Leu)
c.5597A>T (p.Gln1866Leu)
c.5669A>T (p.Gln1890Leu)
3g.38550646T>CCA019443SCN5Ac.5723A>G (p.Gln1908Arg)
c.5726A>G (p.Gln1909Arg)
c.5672A>G (p.Gln1891Arg)
c.5564A>G (p.Gln1855Arg)
c.5627A>G (p.Gln1876Arg)
c.5597A>G (p.Gln1866Arg)
c.5669A>G (p.Gln1890Arg)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
3g.38550646T>GCA352140177SCN5Ac.5723A>C (p.Gln1908Pro)
c.5726A>C (p.Gln1909Pro)
c.5672A>C (p.Gln1891Pro)
c.5564A>C (p.Gln1855Pro)
c.5627A>C (p.Gln1876Pro)
c.5597A>C (p.Gln1866Pro)
c.5669A>C (p.Gln1890Pro)
3g.38550646T=CA1358556311SCN5Ac.5723A= (p.Gln1908=)
c.5726A= (p.Gln1909=)
c.5672A= (p.Gln1891=)
c.5564A= (p.Gln1855=)
c.5627A= (p.Gln1876=)
c.5597A= (p.Gln1866=)
c.5669A= (p.Gln1890=)
3g.38550647G>ACA352140185SCN5Ac.5722C>T (p.Gln1908Ter)
c.5725C>T (p.Gln1909Ter)
c.5671C>T (p.Gln1891Ter)
c.5563C>T (p.Gln1855Ter)
c.5626C>T (p.Gln1876Ter)
c.5596C>T (p.Gln1866Ter)
c.5668C>T (p.Gln1890Ter)
gnomAD v4 COSMIC COSMIC COSMIC
3g.38550647G>CCA352140183SCN5Ac.5722C>G (p.Gln1908Glu)
c.5725C>G (p.Gln1909Glu)
c.5671C>G (p.Gln1891Glu)
c.5563C>G (p.Gln1855Glu)
c.5626C>G (p.Gln1876Glu)
c.5596C>G (p.Gln1866Glu)
c.5668C>G (p.Gln1890Glu)
3g.38550647G>TCA352140181SCN5Ac.5722C>A (p.Gln1908Lys)
c.5725C>A (p.Gln1909Lys)
c.5671C>A (p.Gln1891Lys)
c.5563C>A (p.Gln1855Lys)
c.5626C>A (p.Gln1876Lys)
c.5596C>A (p.Gln1866Lys)
c.5668C>A (p.Gln1890Lys)
3g.38550648G>ACA433332001SCN5Ac.5721C>T (p.Ile1907=)
c.5724C>T (p.Ile1908=)
c.5670C>T (p.Ile1890=)
c.5562C>T (p.Ile1854=)
c.5625C>T (p.Ile1875=)
c.5595C>T (p.Ile1865=)
c.5667C>T (p.Ile1889=)
gnomAD v4
3g.38550648G>CCA352140187SCN5Ac.5721C>G (p.Ile1907Met)
c.5724C>G (p.Ile1908Met)
c.5670C>G (p.Ile1890Met)
c.5562C>G (p.Ile1854Met)
c.5625C>G (p.Ile1875Met)
c.5595C>G (p.Ile1865Met)
c.5667C>G (p.Ile1889Met)
3g.38550648G>TCA433332002SCN5Ac.5721C>A (p.Ile1907=)
c.5724C>A (p.Ile1908=)
c.5670C>A (p.Ile1890=)
c.5562C>A (p.Ile1854=)
c.5625C>A (p.Ile1875=)
c.5595C>A (p.Ile1865=)
c.5667C>A (p.Ile1889=)
3g.38550649A>CCA352140188SCN5Ac.5720T>G (p.Ile1907Ser)
c.5723T>G (p.Ile1908Ser)
c.5669T>G (p.Ile1890Ser)
c.5561T>G (p.Ile1854Ser)
c.5624T>G (p.Ile1875Ser)
c.5594T>G (p.Ile1865Ser)
c.5666T>G (p.Ile1889Ser)
3g.38550649A>GCA352140190SCN5Ac.5720T>C (p.Ile1907Thr)
c.5723T>C (p.Ile1908Thr)
c.5669T>C (p.Ile1890Thr)
c.5561T>C (p.Ile1854Thr)
c.5624T>C (p.Ile1875Thr)
c.5594T>C (p.Ile1865Thr)
c.5666T>C (p.Ile1889Thr)
gnomAD v4
3g.38550649A>TCA352140192SCN5Ac.5720T>A (p.Ile1907Asn)
c.5723T>A (p.Ile1908Asn)
c.5669T>A (p.Ile1890Asn)
c.5561T>A (p.Ile1854Asn)
c.5624T>A (p.Ile1875Asn)
c.5594T>A (p.Ile1865Asn)
c.5666T>A (p.Ile1889Asn)
3g.38550650T>ACA352140194SCN5Ac.5719A>T (p.Ile1907Phe)
c.5722A>T (p.Ile1908Phe)
c.5668A>T (p.Ile1890Phe)
c.5560A>T (p.Ile1854Phe)
c.5623A>T (p.Ile1875Phe)
c.5593A>T (p.Ile1865Phe)
c.5665A>T (p.Ile1889Phe)
3g.38550650T>CCA064703SCN5Ac.5719A>G (p.Ile1907Val)
c.5722A>G (p.Ile1908Val)
c.5668A>G (p.Ile1890Val)
c.5560A>G (p.Ile1854Val)
c.5623A>G (p.Ile1875Val)
c.5593A>G (p.Ile1865Val)
c.5665A>G (p.Ile1889Val)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38550650T>GCA352140196SCN5Ac.5719A>C (p.Ile1907Leu)
c.5722A>C (p.Ile1908Leu)
c.5668A>C (p.Ile1890Leu)
c.5560A>C (p.Ile1854Leu)
c.5623A>C (p.Ile1875Leu)
c.5593A>C (p.Ile1865Leu)
c.5665A>C (p.Ile1889Leu)
3g.38550650T=CA1358556316SCN5Ac.5719A= (p.Ile1907=)
c.5722A= (p.Ile1908=)
c.5668A= (p.Ile1890=)
c.5560A= (p.Ile1854=)
c.5623A= (p.Ile1875=)
c.5593A= (p.Ile1865=)
c.5665A= (p.Ile1889=)
3g.38550651A=CA1358556321SCN5Ac.5718T= (p.Val1906=)
c.5721T= (p.Val1907=)
c.5667T= (p.Val1889=)
c.5559T= (p.Val1853=)
c.5622T= (p.Val1874=)
c.5592T= (p.Val1864=)
c.5664T= (p.Val1888=)
3g.38550651A>CCA433332005SCN5Ac.5718T>G (p.Val1906=)
c.5721T>G (p.Val1907=)
c.5667T>G (p.Val1889=)
c.5559T>G (p.Val1853=)
c.5622T>G (p.Val1874=)
c.5592T>G (p.Val1864=)
c.5664T>G (p.Val1888=)
3g.38550651A>GCA433332006SCN5Ac.5718T>C (p.Val1906=)
c.5721T>C (p.Val1907=)
c.5667T>C (p.Val1889=)
c.5559T>C (p.Val1853=)
c.5622T>C (p.Val1874=)
c.5592T>C (p.Val1864=)
c.5664T>C (p.Val1888=)
ClinVar dbSNP
3g.38550651A>TCA433332007SCN5Ac.5718T>A (p.Val1906=)
c.5721T>A (p.Val1907=)
c.5667T>A (p.Val1889=)
c.5559T>A (p.Val1853=)
c.5622T>A (p.Val1874=)
c.5592T>A (p.Val1864=)
c.5664T>A (p.Val1888=)
3g.38550652A>CCA352140198SCN5Ac.5717T>G (p.Val1906Gly)
c.5720T>G (p.Val1907Gly)
c.5666T>G (p.Val1889Gly)
c.5558T>G (p.Val1853Gly)
c.5621T>G (p.Val1874Gly)
c.5591T>G (p.Val1864Gly)
c.5663T>G (p.Val1888Gly)
3g.38550652A>GCA352140200SCN5Ac.5717T>C (p.Val1906Ala)
c.5720T>C (p.Val1907Ala)
c.5666T>C (p.Val1889Ala)
c.5558T>C (p.Val1853Ala)
c.5621T>C (p.Val1874Ala)
c.5591T>C (p.Val1864Ala)
c.5663T>C (p.Val1888Ala)
3g.38550652A>TCA352140201SCN5Ac.5717T>A (p.Val1906Asp)
c.5720T>A (p.Val1907Asp)
c.5666T>A (p.Val1889Asp)
c.5558T>A (p.Val1853Asp)
c.5621T>A (p.Val1874Asp)
c.5591T>A (p.Val1864Asp)
c.5663T>A (p.Val1888Asp)
3g.38550653C>ACA352140204SCN5Ac.5716G>T (p.Val1906Phe)
c.5719G>T (p.Val1907Phe)
c.5665G>T (p.Val1889Phe)
c.5557G>T (p.Val1853Phe)
c.5620G>T (p.Val1874Phe)
c.5590G>T (p.Val1864Phe)
c.5662G>T (p.Val1888Phe)
3g.38550653C>GCA352140205SCN5Ac.5716G>C (p.Val1906Leu)
c.5719G>C (p.Val1907Leu)
c.5665G>C (p.Val1889Leu)
c.5557G>C (p.Val1853Leu)
c.5620G>C (p.Val1874Leu)
c.5590G>C (p.Val1864Leu)
c.5662G>C (p.Val1888Leu)
3g.38550653C>TCA352140207SCN5Ac.5716G>A (p.Val1906Ile)
c.5719G>A (p.Val1907Ile)
c.5665G>A (p.Val1889Ile)
c.5557G>A (p.Val1853Ile)
c.5620G>A (p.Val1874Ile)
c.5590G>A (p.Val1864Ile)
c.5662G>A (p.Val1888Ile)
3g.38550654C>ACA352140211SCN5Ac.5715G>T (p.Met1905Ile)
c.5718G>T (p.Met1906Ile)
c.5664G>T (p.Met1888Ile)
c.5556G>T (p.Met1852Ile)
c.5619G>T (p.Met1873Ile)
c.5589G>T (p.Met1863Ile)
c.5661G>T (p.Met1887Ile)
3g.38550654C>GCA352140213SCN5Ac.5715G>C (p.Met1905Ile)
c.5718G>C (p.Met1906Ile)
c.5664G>C (p.Met1888Ile)
c.5556G>C (p.Met1852Ile)
c.5619G>C (p.Met1873Ile)
c.5589G>C (p.Met1863Ile)
c.5661G>C (p.Met1887Ile)
3g.38550654C>TCA352140210SCN5Ac.5715G>A (p.Met1905Ile)
c.5718G>A (p.Met1906Ile)
c.5664G>A (p.Met1888Ile)
c.5556G>A (p.Met1852Ile)
c.5619G>A (p.Met1873Ile)
c.5589G>A (p.Met1863Ile)
c.5661G>A (p.Met1887Ile)
3g.38550655A=CA1358556324SCN5Ac.5714T= (p.Met1905=)
c.5717T= (p.Met1906=)
c.5663T= (p.Met1888=)
c.5555T= (p.Met1852=)
c.5618T= (p.Met1873=)
c.5588T= (p.Met1863=)
c.5660T= (p.Met1887=)
3g.38550655A>CCA352140215SCN5Ac.5714T>G (p.Met1905Arg)
c.5717T>G (p.Met1906Arg)
c.5663T>G (p.Met1888Arg)
c.5555T>G (p.Met1852Arg)
c.5618T>G (p.Met1873Arg)
c.5588T>G (p.Met1863Arg)
c.5660T>G (p.Met1887Arg)
3g.38550655A>GCA064697SCN5Ac.5714T>C (p.Met1905Thr)
c.5717T>C (p.Met1906Thr)
c.5663T>C (p.Met1888Thr)
c.5555T>C (p.Met1852Thr)
c.5618T>C (p.Met1873Thr)
c.5588T>C (p.Met1863Thr)
c.5660T>C (p.Met1887Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38550655A>TCA352140218SCN5Ac.5714T>A (p.Met1905Lys)
c.5717T>A (p.Met1906Lys)
c.5663T>A (p.Met1888Lys)
c.5555T>A (p.Met1852Lys)
c.5618T>A (p.Met1873Lys)
c.5588T>A (p.Met1863Lys)
c.5660T>A (p.Met1887Lys)
3g.38550656T>ACA352140219SCN5Ac.5713A>T (p.Met1905Leu)
c.5716A>T (p.Met1906Leu)
c.5662A>T (p.Met1888Leu)
c.5554A>T (p.Met1852Leu)
c.5617A>T (p.Met1873Leu)
c.5587A>T (p.Met1863Leu)
c.5659A>T (p.Met1887Leu)
3g.38550656T>CCA72937834SCN5Ac.5713A>G (p.Met1905Val)
c.5716A>G (p.Met1906Val)
c.5662A>G (p.Met1888Val)
c.5554A>G (p.Met1852Val)
c.5617A>G (p.Met1873Val)
c.5587A>G (p.Met1863Val)
c.5659A>G (p.Met1887Val)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38550656T>GCA352140221SCN5Ac.5713A>C (p.Met1905Leu)
c.5716A>C (p.Met1906Leu)
c.5662A>C (p.Met1888Leu)
c.5554A>C (p.Met1852Leu)
c.5617A>C (p.Met1873Leu)
c.5587A>C (p.Met1863Leu)
c.5659A>C (p.Met1887Leu)
3g.38550656T=CA1358556327SCN5Ac.5713A= (p.Met1905=)
c.5716A= (p.Met1906=)
c.5662A= (p.Met1888=)
c.5554A= (p.Met1852=)
c.5617A= (p.Met1873=)
c.5587A= (p.Met1863=)
c.5659A= (p.Met1887=)

Number of alleles fetched