Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38550500G>ACA019516SCN5Ac.5869C>T (p.Arg1957Ter)
c.5872C>T (p.Arg1958Ter)
c.5818C>T (p.Arg1940Ter)
c.5710C>T (p.Arg1904Ter)
c.5773C>T (p.Arg1925Ter)
c.5743C>T (p.Arg1915Ter)
c.5815C>T (p.Arg1939Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550500G>CCA352139616SCN5Ac.5869C>G (p.Arg1957Gly)
c.5872C>G (p.Arg1958Gly)
c.5818C>G (p.Arg1940Gly)
c.5710C>G (p.Arg1904Gly)
c.5773C>G (p.Arg1925Gly)
c.5743C>G (p.Arg1915Gly)
c.5815C>G (p.Arg1939Gly)
 gnomAD v4
3g.38550500G=CA1358555903SCN5Ac.5869C= (p.Arg1957=)
c.5872C= (p.Arg1958=)
c.5818C= (p.Arg1940=)
c.5710C= (p.Arg1904=)
c.5773C= (p.Arg1925=)
c.5743C= (p.Arg1915=)
c.5815C= (p.Arg1939=)
3g.38550500G>TCA433331493SCN5Ac.5869C>A (p.Arg1957=)
c.5872C>A (p.Arg1958=)
c.5818C>A (p.Arg1940=)
c.5710C>A (p.Arg1904=)
c.5773C>A (p.Arg1925=)
c.5743C>A (p.Arg1915=)
c.5815C>A (p.Arg1939=)
3g.38550501G>ACA433331496SCN5Ac.5868C>T (p.Ser1956=)
c.5871C>T (p.Ser1957=)
c.5817C>T (p.Ser1939=)
c.5709C>T (p.Ser1903=)
c.5772C>T (p.Ser1924=)
c.5742C>T (p.Ser1914=)
c.5814C>T (p.Ser1938=)
3g.38550501G>CCA064935SCN5Ac.5868C>G (p.Ser1956=)
c.5871C>G (p.Ser1957=)
c.5817C>G (p.Ser1939=)
c.5709C>G (p.Ser1903=)
c.5772C>G (p.Ser1924=)
c.5742C>G (p.Ser1914=)
c.5814C>G (p.Ser1938=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550501G=CA1358555910SCN5Ac.5868C= (p.Ser1956=)
c.5871C= (p.Ser1957=)
c.5817C= (p.Ser1939=)
c.5709C= (p.Ser1903=)
c.5772C= (p.Ser1924=)
c.5742C= (p.Ser1914=)
c.5814C= (p.Ser1938=)
3g.38550501G>TCA433331497SCN5Ac.5868C>A (p.Ser1956=)
c.5871C>A (p.Ser1957=)
c.5817C>A (p.Ser1939=)
c.5709C>A (p.Ser1903=)
c.5772C>A (p.Ser1924=)
c.5742C>A (p.Ser1914=)
c.5814C>A (p.Ser1938=)
3g.38550502G>ACA352139624SCN5Ac.5867C>T (p.Ser1956Phe)
c.5870C>T (p.Ser1957Phe)
c.5816C>T (p.Ser1939Phe)
c.5708C>T (p.Ser1903Phe)
c.5771C>T (p.Ser1924Phe)
c.5741C>T (p.Ser1914Phe)
c.5813C>T (p.Ser1938Phe)
 COSMIC COSMIC COSMIC
3g.38550502G>CCA352139620SCN5Ac.5867C>G (p.Ser1956Cys)
c.5870C>G (p.Ser1957Cys)
c.5816C>G (p.Ser1939Cys)
c.5708C>G (p.Ser1903Cys)
c.5771C>G (p.Ser1924Cys)
c.5741C>G (p.Ser1914Cys)
c.5813C>G (p.Ser1938Cys)
3g.38550502G>TCA352139622SCN5Ac.5867C>A (p.Ser1956Tyr)
c.5870C>A (p.Ser1957Tyr)
c.5816C>A (p.Ser1939Tyr)
c.5708C>A (p.Ser1903Tyr)
c.5771C>A (p.Ser1924Tyr)
c.5741C>A (p.Ser1914Tyr)
c.5813C>A (p.Ser1938Tyr)
3g.38550503A=CA1358555912SCN5Ac.5866T= (p.Ser1956=)
c.5869T= (p.Ser1957=)
c.5815T= (p.Ser1939=)
c.5707T= (p.Ser1903=)
c.5770T= (p.Ser1924=)
c.5740T= (p.Ser1914=)
c.5812T= (p.Ser1938=)
3g.38550503A>CCA352139626SCN5Ac.5866T>G (p.Ser1956Ala)
c.5869T>G (p.Ser1957Ala)
c.5815T>G (p.Ser1939Ala)
c.5707T>G (p.Ser1903Ala)
c.5770T>G (p.Ser1924Ala)
c.5740T>G (p.Ser1914Ala)
c.5812T>G (p.Ser1938Ala)
3g.38550503A>GCA064930SCN5Ac.5866T>C (p.Ser1956Pro)
c.5869T>C (p.Ser1957Pro)
c.5815T>C (p.Ser1939Pro)
c.5707T>C (p.Ser1903Pro)
c.5770T>C (p.Ser1924Pro)
c.5740T>C (p.Ser1914Pro)
c.5812T>C (p.Ser1938Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38550503A>TCA352139628SCN5Ac.5866T>A (p.Ser1956Thr)
c.5869T>A (p.Ser1957Thr)
c.5815T>A (p.Ser1939Thr)
c.5707T>A (p.Ser1903Thr)
c.5770T>A (p.Ser1924Thr)
c.5740T>A (p.Ser1914Thr)
c.5812T>A (p.Ser1938Thr)
3g.38550504G>ACA433331498SCN5Ac.5865C>T (p.Phe1955=)
c.5868C>T (p.Phe1956=)
c.5814C>T (p.Phe1938=)
c.5706C>T (p.Phe1902=)
c.5769C>T (p.Phe1923=)
c.5739C>T (p.Phe1913=)
c.5811C>T (p.Phe1937=)
 COSMIC COSMIC COSMIC
3g.38550504G>CCA352139629SCN5Ac.5865C>G (p.Phe1955Leu)
c.5868C>G (p.Phe1956Leu)
c.5814C>G (p.Phe1938Leu)
c.5706C>G (p.Phe1902Leu)
c.5769C>G (p.Phe1923Leu)
c.5739C>G (p.Phe1913Leu)
c.5811C>G (p.Phe1937Leu)
3g.38550504G>TCA352139630SCN5Ac.5865C>A (p.Phe1955Leu)
c.5868C>A (p.Phe1956Leu)
c.5814C>A (p.Phe1938Leu)
c.5706C>A (p.Phe1902Leu)
c.5769C>A (p.Phe1923Leu)
c.5739C>A (p.Phe1913Leu)
c.5811C>A (p.Phe1937Leu)
3g.38550505A>CCA352139632SCN5Ac.5864T>G (p.Phe1955Cys)
c.5867T>G (p.Phe1956Cys)
c.5813T>G (p.Phe1938Cys)
c.5705T>G (p.Phe1902Cys)
c.5768T>G (p.Phe1923Cys)
c.5738T>G (p.Phe1913Cys)
c.5810T>G (p.Phe1937Cys)
3g.38550505A>GCA352139634SCN5Ac.5864T>C (p.Phe1955Ser)
c.5867T>C (p.Phe1956Ser)
c.5813T>C (p.Phe1938Ser)
c.5705T>C (p.Phe1902Ser)
c.5768T>C (p.Phe1923Ser)
c.5738T>C (p.Phe1913Ser)
c.5810T>C (p.Phe1937Ser)
 ClinVar
3g.38550505A>TCA352139635SCN5Ac.5864T>A (p.Phe1955Tyr)
c.5867T>A (p.Phe1956Tyr)
c.5813T>A (p.Phe1938Tyr)
c.5705T>A (p.Phe1902Tyr)
c.5768T>A (p.Phe1923Tyr)
c.5738T>A (p.Phe1913Tyr)
c.5810T>A (p.Phe1937Tyr)
3g.38550506A>CCA352139637SCN5Ac.5863T>G (p.Phe1955Val)
c.5866T>G (p.Phe1956Val)
c.5812T>G (p.Phe1938Val)
c.5704T>G (p.Phe1902Val)
c.5767T>G (p.Phe1923Val)
c.5737T>G (p.Phe1913Val)
c.5809T>G (p.Phe1937Val)
3g.38550506A>GCA352139639SCN5Ac.5863T>C (p.Phe1955Leu)
c.5866T>C (p.Phe1956Leu)
c.5812T>C (p.Phe1938Leu)
c.5704T>C (p.Phe1902Leu)
c.5767T>C (p.Phe1923Leu)
c.5737T>C (p.Phe1913Leu)
c.5809T>C (p.Phe1937Leu)
3g.38550506A>TCA352139640SCN5Ac.5863T>A (p.Phe1955Ile)
c.5866T>A (p.Phe1956Ile)
c.5812T>A (p.Phe1938Ile)
c.5704T>A (p.Phe1902Ile)
c.5767T>A (p.Phe1923Ile)
c.5737T>A (p.Phe1913Ile)
c.5809T>A (p.Phe1937Ile)
3g.38550507G>ACA064925SCN5Ac.5862C>T (p.Asn1954=)
c.5865C>T (p.Asn1955=)
c.5811C>T (p.Asn1937=)
c.5703C>T (p.Asn1901=)
c.5766C>T (p.Asn1922=)
c.5736C>T (p.Asn1912=)
c.5808C>T (p.Asn1936=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550507G>CCA352139645SCN5Ac.5862C>G (p.Asn1954Lys)
c.5865C>G (p.Asn1955Lys)
c.5811C>G (p.Asn1937Lys)
c.5703C>G (p.Asn1901Lys)
c.5766C>G (p.Asn1922Lys)
c.5736C>G (p.Asn1912Lys)
c.5808C>G (p.Asn1936Lys)
3g.38550507G=CA1358555914SCN5Ac.5862C= (p.Asn1954=)
c.5865C= (p.Asn1955=)
c.5811C= (p.Asn1937=)
c.5703C= (p.Asn1901=)
c.5766C= (p.Asn1922=)
c.5736C= (p.Asn1912=)
c.5808C= (p.Asn1936=)
3g.38550507G>TCA352139642SCN5Ac.5862C>A (p.Asn1954Lys)
c.5865C>A (p.Asn1955Lys)
c.5811C>A (p.Asn1937Lys)
c.5703C>A (p.Asn1901Lys)
c.5766C>A (p.Asn1922Lys)
c.5736C>A (p.Asn1912Lys)
c.5808C>A (p.Asn1936Lys)
 gnomAD v4
3g.38550508T>ACA352139649SCN5Ac.5861A>T (p.Asn1954Ile)
c.5864A>T (p.Asn1955Ile)
c.5810A>T (p.Asn1937Ile)
c.5702A>T (p.Asn1901Ile)
c.5765A>T (p.Asn1922Ile)
c.5735A>T (p.Asn1912Ile)
c.5807A>T (p.Asn1936Ile)
3g.38550508T>CCA352139647SCN5Ac.5861A>G (p.Asn1954Ser)
c.5864A>G (p.Asn1955Ser)
c.5810A>G (p.Asn1937Ser)
c.5702A>G (p.Asn1901Ser)
c.5765A>G (p.Asn1922Ser)
c.5735A>G (p.Asn1912Ser)
c.5807A>G (p.Asn1936Ser)
 gnomAD v4
3g.38550508T>GCA352139648SCN5Ac.5861A>C (p.Asn1954Thr)
c.5864A>C (p.Asn1955Thr)
c.5810A>C (p.Asn1937Thr)
c.5702A>C (p.Asn1901Thr)
c.5765A>C (p.Asn1922Thr)
c.5735A>C (p.Asn1912Thr)
c.5807A>C (p.Asn1936Thr)
3g.38550509T>ACA352139652SCN5Ac.5860A>T (p.Asn1954Tyr)
c.5863A>T (p.Asn1955Tyr)
c.5809A>T (p.Asn1937Tyr)
c.5701A>T (p.Asn1901Tyr)
c.5764A>T (p.Asn1922Tyr)
c.5734A>T (p.Asn1912Tyr)
c.5806A>T (p.Asn1936Tyr)
 dbSNP gnomAD v2
3g.38550509T>CCA352139654SCN5Ac.5860A>G (p.Asn1954Asp)
c.5863A>G (p.Asn1955Asp)
c.5809A>G (p.Asn1937Asp)
c.5701A>G (p.Asn1901Asp)
c.5764A>G (p.Asn1922Asp)
c.5734A>G (p.Asn1912Asp)
c.5806A>G (p.Asn1936Asp)
3g.38550509T>GCA352139655SCN5Ac.5860A>C (p.Asn1954His)
c.5863A>C (p.Asn1955His)
c.5809A>C (p.Asn1937His)
c.5701A>C (p.Asn1901His)
c.5764A>C (p.Asn1922His)
c.5734A>C (p.Asn1912His)
c.5806A>C (p.Asn1936His)
3g.38550509T=CA1358555917SCN5Ac.5860A= (p.Asn1954=)
c.5863A= (p.Asn1955=)
c.5809A= (p.Asn1937=)
c.5701A= (p.Asn1901=)
c.5764A= (p.Asn1922=)
c.5734A= (p.Asn1912=)
c.5806A= (p.Asn1936=)
3g.38550509_38550513delinsTCTCACA1358555916SCN5Ac.5856_5860delinsTGAGA (p.Ser1952=)
c.5859_5863delinsTGAGA (p.Ser1953=)
c.5805_5809delinsTGAGA (p.Ser1935=)
c.5697_5701delinsTGAGA (p.Ser1899=)
c.5760_5764delinsTGAGA (p.Ser1920=)
c.5730_5734delinsTGAGA (p.Ser1910=)
c.5802_5806delinsTGAGA (p.Ser1934=)
3g.38550510C>ACA352139657SCN5Ac.5859G>T (p.Glu1953Asp)
c.5862G>T (p.Glu1954Asp)
c.5808G>T (p.Glu1936Asp)
c.5700G>T (p.Glu1900Asp)
c.5763G>T (p.Glu1921Asp)
c.5733G>T (p.Glu1911Asp)
c.5805G>T (p.Glu1935Asp)
 ClinVar COSMIC COSMIC COSMIC
3g.38550510C>GCA352139659SCN5Ac.5859G>C (p.Glu1953Asp)
c.5862G>C (p.Glu1954Asp)
c.5808G>C (p.Glu1936Asp)
c.5700G>C (p.Glu1900Asp)
c.5763G>C (p.Glu1921Asp)
c.5733G>C (p.Glu1911Asp)
c.5805G>C (p.Glu1935Asp)
3g.38550510C>TCA433331511SCN5Ac.5859G>A (p.Glu1953=)
c.5862G>A (p.Glu1954=)
c.5808G>A (p.Glu1936=)
c.5700G>A (p.Glu1900=)
c.5763G>A (p.Glu1921=)
c.5733G>A (p.Glu1911=)
c.5805G>A (p.Glu1935=)
 gnomAD v4
3g.38550514_38550517delCA064916SCN5Ac.5856_5859del (p.Ser1952ArgfsTer?)
c.5859_5862del (p.Ser1953ArgfsTer?)
c.5805_5808del (p.Ser1935ArgfsTer?)
c.5697_5700del (p.Ser1899ArgfsTer?)
c.5760_5763del (p.Ser1920ArgfsTer?)
c.5730_5733del (p.Ser1910ArgfsTer?)
c.5802_5805del (p.Ser1934ArgfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550511T>ACA352139662SCN5Ac.5858A>T (p.Glu1953Val)
c.5861A>T (p.Glu1954Val)
c.5807A>T (p.Glu1936Val)
c.5699A>T (p.Glu1900Val)
c.5762A>T (p.Glu1921Val)
c.5732A>T (p.Glu1911Val)
c.5804A>T (p.Glu1935Val)
3g.38550511T>CCA352139664SCN5Ac.5858A>G (p.Glu1953Gly)
c.5861A>G (p.Glu1954Gly)
c.5807A>G (p.Glu1936Gly)
c.5699A>G (p.Glu1900Gly)
c.5762A>G (p.Glu1921Gly)
c.5732A>G (p.Glu1911Gly)
c.5804A>G (p.Glu1935Gly)
3g.38550511T>GCA352139666SCN5Ac.5858A>C (p.Glu1953Ala)
c.5861A>C (p.Glu1954Ala)
c.5807A>C (p.Glu1936Ala)
c.5699A>C (p.Glu1900Ala)
c.5762A>C (p.Glu1921Ala)
c.5732A>C (p.Glu1911Ala)
c.5804A>C (p.Glu1935Ala)
3g.38550515_38550521delCA2697550802SCN5Ac.5852_5858del (p.Met1951ArgfsTer?)
c.5855_5861del (p.Met1952ArgfsTer?)
c.5801_5807del (p.Met1934ArgfsTer?)
c.5693_5699del (p.Met1898ArgfsTer?)
c.5756_5762del (p.Met1919ArgfsTer?)
c.5726_5732del (p.Met1909ArgfsTer?)
c.5798_5804del (p.Met1933ArgfsTer?)
 ClinVar
3g.38550512C>ACA352139667SCN5Ac.5857G>T (p.Glu1953Ter)
c.5860G>T (p.Glu1954Ter)
c.5806G>T (p.Glu1936Ter)
c.5698G>T (p.Glu1900Ter)
c.5761G>T (p.Glu1921Ter)
c.5731G>T (p.Glu1911Ter)
c.5803G>T (p.Glu1935Ter)
 dbSNP gnomAD v4
3g.38550512C=CA1358555921SCN5Ac.5857G= (p.Glu1953=)
c.5860G= (p.Glu1954=)
c.5806G= (p.Glu1936=)
c.5698G= (p.Glu1900=)
c.5761G= (p.Glu1921=)
c.5731G= (p.Glu1911=)
c.5803G= (p.Glu1935=)
3g.38550512C>GCA352139668SCN5Ac.5857G>C (p.Glu1953Gln)
c.5860G>C (p.Glu1954Gln)
c.5806G>C (p.Glu1936Gln)
c.5698G>C (p.Glu1900Gln)
c.5761G>C (p.Glu1921Gln)
c.5731G>C (p.Glu1911Gln)
c.5803G>C (p.Glu1935Gln)
3g.38550512C>TCA019513SCN5Ac.5857G>A (p.Glu1953Lys)
c.5860G>A (p.Glu1954Lys)
c.5806G>A (p.Glu1936Lys)
c.5698G>A (p.Glu1900Lys)
c.5761G>A (p.Glu1921Lys)
c.5731G>A (p.Glu1911Lys)
c.5803G>A (p.Glu1935Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550513A>CCA352139670SCN5Ac.5856T>G (p.Ser1952Arg)
c.5859T>G (p.Ser1953Arg)
c.5805T>G (p.Ser1935Arg)
c.5697T>G (p.Ser1899Arg)
c.5760T>G (p.Ser1920Arg)
c.5730T>G (p.Ser1910Arg)
c.5802T>G (p.Ser1934Arg)
3g.38550513A>GCA433331516SCN5Ac.5856T>C (p.Ser1952=)
c.5859T>C (p.Ser1953=)
c.5805T>C (p.Ser1935=)
c.5697T>C (p.Ser1899=)
c.5760T>C (p.Ser1920=)
c.5730T>C (p.Ser1910=)
c.5802T>C (p.Ser1934=)
3g.38550513A>TCA352139672SCN5Ac.5856T>A (p.Ser1952Arg)
c.5859T>A (p.Ser1953Arg)
c.5805T>A (p.Ser1935Arg)
c.5697T>A (p.Ser1899Arg)
c.5760T>A (p.Ser1920Arg)
c.5730T>A (p.Ser1910Arg)
c.5802T>A (p.Ser1934Arg)
3g.38550514C>ACA352139673SCN5Ac.5855G>T (p.Ser1952Ile)
c.5858G>T (p.Ser1953Ile)
c.5804G>T (p.Ser1935Ile)
c.5696G>T (p.Ser1899Ile)
c.5759G>T (p.Ser1920Ile)
c.5729G>T (p.Ser1910Ile)
c.5801G>T (p.Ser1934Ile)
3g.38550514C=CA1358555926SCN5Ac.5855G= (p.Ser1952=)
c.5858G= (p.Ser1953=)
c.5804G= (p.Ser1935=)
c.5696G= (p.Ser1899=)
c.5759G= (p.Ser1920=)
c.5729G= (p.Ser1910=)
c.5801G= (p.Ser1934=)
3g.38550514C>GCA352139674SCN5Ac.5855G>C (p.Ser1952Thr)
c.5858G>C (p.Ser1953Thr)
c.5804G>C (p.Ser1935Thr)
c.5696G>C (p.Ser1899Thr)
c.5759G>C (p.Ser1920Thr)
c.5729G>C (p.Ser1910Thr)
c.5801G>C (p.Ser1934Thr)
3g.38550514C>TCA72937741SCN5Ac.5855G>A (p.Ser1952Asn)
c.5858G>A (p.Ser1953Asn)
c.5804G>A (p.Ser1935Asn)
c.5696G>A (p.Ser1899Asn)
c.5759G>A (p.Ser1920Asn)
c.5729G>A (p.Ser1910Asn)
c.5801G>A (p.Ser1934Asn)
 ClinVar dbSNP gnomAD v4
3g.38550515T>ACA352139677SCN5Ac.5854A>T (p.Ser1952Cys)
c.5857A>T (p.Ser1953Cys)
c.5803A>T (p.Ser1935Cys)
c.5695A>T (p.Ser1899Cys)
c.5758A>T (p.Ser1920Cys)
c.5728A>T (p.Ser1910Cys)
c.5800A>T (p.Ser1934Cys)
3g.38550515T>CCA352139679SCN5Ac.5854A>G (p.Ser1952Gly)
c.5857A>G (p.Ser1953Gly)
c.5803A>G (p.Ser1935Gly)
c.5695A>G (p.Ser1899Gly)
c.5758A>G (p.Ser1920Gly)
c.5728A>G (p.Ser1910Gly)
c.5800A>G (p.Ser1934Gly)
 gnomAD v4
3g.38550515T>GCA352139680SCN5Ac.5854A>C (p.Ser1952Arg)
c.5857A>C (p.Ser1953Arg)
c.5803A>C (p.Ser1935Arg)
c.5695A>C (p.Ser1899Arg)
c.5758A>C (p.Ser1920Arg)
c.5728A>C (p.Ser1910Arg)
c.5800A>C (p.Ser1934Arg)
3g.38550516C>ACA352139683SCN5Ac.5853G>T (p.Met1951Ile)
c.5856G>T (p.Met1952Ile)
c.5802G>T (p.Met1934Ile)
c.5694G>T (p.Met1898Ile)
c.5757G>T (p.Met1919Ile)
c.5727G>T (p.Met1909Ile)
c.5799G>T (p.Met1933Ile)
 gnomAD v4
3g.38550516C>GCA352139685SCN5Ac.5853G>C (p.Met1951Ile)
c.5856G>C (p.Met1952Ile)
c.5802G>C (p.Met1934Ile)
c.5694G>C (p.Met1898Ile)
c.5757G>C (p.Met1919Ile)
c.5727G>C (p.Met1909Ile)
c.5799G>C (p.Met1933Ile)
3g.38550516C>TCA352139687SCN5Ac.5853G>A (p.Met1951Ile)
c.5856G>A (p.Met1952Ile)
c.5802G>A (p.Met1934Ile)
c.5694G>A (p.Met1898Ile)
c.5757G>A (p.Met1919Ile)
c.5727G>A (p.Met1909Ile)
c.5799G>A (p.Met1933Ile)
 gnomAD v4
3g.38550517A>CCA352139689SCN5Ac.5852T>G (p.Met1951Arg)
c.5855T>G (p.Met1952Arg)
c.5801T>G (p.Met1934Arg)
c.5693T>G (p.Met1898Arg)
c.5756T>G (p.Met1919Arg)
c.5726T>G (p.Met1909Arg)
c.5798T>G (p.Met1933Arg)
3g.38550517A>GCA352139690SCN5Ac.5852T>C (p.Met1951Thr)
c.5855T>C (p.Met1952Thr)
c.5801T>C (p.Met1934Thr)
c.5693T>C (p.Met1898Thr)
c.5756T>C (p.Met1919Thr)
c.5726T>C (p.Met1909Thr)
c.5798T>C (p.Met1933Thr)
 gnomAD v4
3g.38550517A>TCA352139692SCN5Ac.5852T>A (p.Met1951Lys)
c.5855T>A (p.Met1952Lys)
c.5801T>A (p.Met1934Lys)
c.5693T>A (p.Met1898Lys)
c.5756T>A (p.Met1919Lys)
c.5726T>A (p.Met1909Lys)
c.5798T>A (p.Met1933Lys)
3g.38550518T>ACA352139698SCN5Ac.5851A>T (p.Met1951Leu)
c.5854A>T (p.Met1952Leu)
c.5800A>T (p.Met1934Leu)
c.5692A>T (p.Met1898Leu)
c.5755A>T (p.Met1919Leu)
c.5725A>T (p.Met1909Leu)
c.5797A>T (p.Met1933Leu)
3g.38550518T>CCA352139696SCN5Ac.5851A>G (p.Met1951Val)
c.5854A>G (p.Met1952Val)
c.5800A>G (p.Met1934Val)
c.5692A>G (p.Met1898Val)
c.5755A>G (p.Met1919Val)
c.5725A>G (p.Met1909Val)
c.5797A>G (p.Met1933Val)
3g.38550518T>GCA352139695SCN5Ac.5851A>C (p.Met1951Leu)
c.5854A>C (p.Met1952Leu)
c.5800A>C (p.Met1934Leu)
c.5692A>C (p.Met1898Leu)
c.5755A>C (p.Met1919Leu)
c.5725A>C (p.Met1909Leu)
c.5797A>C (p.Met1933Leu)
3g.38550519C>ACA433331521SCN5Ac.5850G>T (p.Val1950=)
c.5853G>T (p.Val1951=)
c.5799G>T (p.Val1933=)
c.5691G>T (p.Val1897=)
c.5754G>T (p.Val1918=)
c.5724G>T (p.Val1908=)
c.5796G>T (p.Val1932=)
 dbSNP
3g.38550519C>GCA433331522SCN5Ac.5850G>C (p.Val1950=)
c.5853G>C (p.Val1951=)
c.5799G>C (p.Val1933=)
c.5691G>C (p.Val1897=)
c.5754G>C (p.Val1918=)
c.5724G>C (p.Val1908=)
c.5796G>C (p.Val1932=)
3g.38550519C>TCA433331523SCN5Ac.5850G>A (p.Val1950=)
c.5853G>A (p.Val1951=)
c.5799G>A (p.Val1933=)
c.5691G>A (p.Val1897=)
c.5754G>A (p.Val1918=)
c.5724G>A (p.Val1908=)
c.5796G>A (p.Val1932=)
3g.38550520A>CCA352139699SCN5Ac.5849T>G (p.Val1950Gly)
c.5852T>G (p.Val1951Gly)
c.5798T>G (p.Val1933Gly)
c.5690T>G (p.Val1897Gly)
c.5753T>G (p.Val1918Gly)
c.5723T>G (p.Val1908Gly)
c.5795T>G (p.Val1932Gly)
3g.38550520A>GCA352139701SCN5Ac.5849T>C (p.Val1950Ala)
c.5852T>C (p.Val1951Ala)
c.5798T>C (p.Val1933Ala)
c.5690T>C (p.Val1897Ala)
c.5753T>C (p.Val1918Ala)
c.5723T>C (p.Val1908Ala)
c.5795T>C (p.Val1932Ala)
 ClinVar gnomAD v4
3g.38550520A>TCA352139703SCN5Ac.5849T>A (p.Val1950Glu)
c.5852T>A (p.Val1951Glu)
c.5798T>A (p.Val1933Glu)
c.5690T>A (p.Val1897Glu)
c.5753T>A (p.Val1918Glu)
c.5723T>A (p.Val1908Glu)
c.5795T>A (p.Val1932Glu)
3g.38550521C>ACA019509SCN5Ac.5848G>T (p.Val1950Leu)
c.5851G>T (p.Val1951Leu)
c.5797G>T (p.Val1933Leu)
c.5689G>T (p.Val1897Leu)
c.5752G>T (p.Val1918Leu)
c.5722G>T (p.Val1908Leu)
c.5794G>T (p.Val1932Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550521C=CA1358555934SCN5Ac.5848G= (p.Val1950=)
c.5851G= (p.Val1951=)
c.5797G= (p.Val1933=)
c.5689G= (p.Val1897=)
c.5752G= (p.Val1918=)
c.5722G= (p.Val1908=)
c.5794G= (p.Val1932=)
3g.38550521C>GCA352139705SCN5Ac.5848G>C (p.Val1950Leu)
c.5851G>C (p.Val1951Leu)
c.5797G>C (p.Val1933Leu)
c.5689G>C (p.Val1897Leu)
c.5752G>C (p.Val1918Leu)
c.5722G>C (p.Val1908Leu)
c.5794G>C (p.Val1932Leu)
 dbSNP gnomAD v4
3g.38550521C>TCA019505SCN5Ac.5848G>A (p.Val1950Met)
c.5851G>A (p.Val1951Met)
c.5797G>A (p.Val1933Met)
c.5689G>A (p.Val1897Met)
c.5752G>A (p.Val1918Met)
c.5722G>A (p.Val1908Met)
c.5794G>A (p.Val1932Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38550522G>ACA064901SCN5Ac.5847C>T (p.Tyr1949=)
c.5850C>T (p.Tyr1950=)
c.5796C>T (p.Tyr1932=)
c.5688C>T (p.Tyr1896=)
c.5751C>T (p.Tyr1917=)
c.5721C>T (p.Tyr1907=)
c.5793C>T (p.Tyr1931=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550522G>CCA352139710SCN5Ac.5847C>G (p.Tyr1949Ter)
c.5850C>G (p.Tyr1950Ter)
c.5796C>G (p.Tyr1932Ter)
c.5688C>G (p.Tyr1896Ter)
c.5751C>G (p.Tyr1917Ter)
c.5721C>G (p.Tyr1907Ter)
c.5793C>G (p.Tyr1931Ter)
3g.38550522G=CA1358555949SCN5Ac.5847C= (p.Tyr1949=)
c.5850C= (p.Tyr1950=)
c.5796C= (p.Tyr1932=)
c.5688C= (p.Tyr1896=)
c.5751C= (p.Tyr1917=)
c.5721C= (p.Tyr1907=)
c.5793C= (p.Tyr1931=)
3g.38550522G>TCA352139708SCN5Ac.5847C>A (p.Tyr1949Ter)
c.5850C>A (p.Tyr1950Ter)
c.5796C>A (p.Tyr1932Ter)
c.5688C>A (p.Tyr1896Ter)
c.5751C>A (p.Tyr1917Ter)
c.5721C>A (p.Tyr1907Ter)
c.5793C>A (p.Tyr1931Ter)
3g.38550522_38550524delinsGTACA1358555953SCN5Ac.5845_5847delinsTAC (p.Tyr1949=)
c.5848_5850delinsTAC (p.Tyr1950=)
c.5794_5796delinsTAC (p.Tyr1932=)
c.5686_5688delinsTAC (p.Tyr1896=)
c.5749_5751delinsTAC (p.Tyr1917=)
c.5719_5721delinsTAC (p.Tyr1907=)
c.5791_5793delinsTAC (p.Tyr1931=)
3g.38550522_38550524delinsTTGCA16611272SCN5Ac.5845_5847delinsCAA (p.Tyr1949Gln)
c.5848_5850delinsCAA (p.Tyr1950Gln)
c.5794_5796delinsCAA (p.Tyr1932Gln)
c.5686_5688delinsCAA (p.Tyr1896Gln)
c.5749_5751delinsCAA (p.Tyr1917Gln)
c.5719_5721delinsCAA (p.Tyr1907Gln)
c.5791_5793delinsCAA (p.Tyr1931Gln)
 ClinVar dbSNP
3g.38550523T>ACA352139713SCN5Ac.5846A>T (p.Tyr1949Phe)
c.5849A>T (p.Tyr1950Phe)
c.5795A>T (p.Tyr1932Phe)
c.5687A>T (p.Tyr1896Phe)
c.5750A>T (p.Tyr1917Phe)
c.5720A>T (p.Tyr1907Phe)
c.5792A>T (p.Tyr1931Phe)
3g.38550523T>CCA335923SCN5Ac.5846A>G (p.Tyr1949Cys)
c.5849A>G (p.Tyr1950Cys)
c.5795A>G (p.Tyr1932Cys)
c.5687A>G (p.Tyr1896Cys)
c.5750A>G (p.Tyr1917Cys)
c.5720A>G (p.Tyr1907Cys)
c.5792A>G (p.Tyr1931Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38550523T>GCA352139715SCN5Ac.5846A>C (p.Tyr1949Ser)
c.5849A>C (p.Tyr1950Ser)
c.5795A>C (p.Tyr1932Ser)
c.5687A>C (p.Tyr1896Ser)
c.5750A>C (p.Tyr1917Ser)
c.5720A>C (p.Tyr1907Ser)
c.5792A>C (p.Tyr1931Ser)
3g.38550523T=CA1358555957SCN5Ac.5846A= (p.Tyr1949=)
c.5849A= (p.Tyr1950=)
c.5795A= (p.Tyr1932=)
c.5687A= (p.Tyr1896=)
c.5750A= (p.Tyr1917=)
c.5720A= (p.Tyr1907=)
c.5792A= (p.Tyr1931=)
3g.38550524A>CCA352139716SCN5Ac.5845T>G (p.Tyr1949Asp)
c.5848T>G (p.Tyr1950Asp)
c.5794T>G (p.Tyr1932Asp)
c.5686T>G (p.Tyr1896Asp)
c.5749T>G (p.Tyr1917Asp)
c.5719T>G (p.Tyr1907Asp)
c.5791T>G (p.Tyr1931Asp)
3g.38550524A>GCA352139717SCN5Ac.5845T>C (p.Tyr1949His)
c.5848T>C (p.Tyr1950His)
c.5794T>C (p.Tyr1932His)
c.5686T>C (p.Tyr1896His)
c.5749T>C (p.Tyr1917His)
c.5719T>C (p.Tyr1907His)
c.5791T>C (p.Tyr1931His)
 gnomAD v4
3g.38550524A>TCA352139719SCN5Ac.5845T>A (p.Tyr1949Asn)
c.5848T>A (p.Tyr1950Asn)
c.5794T>A (p.Tyr1932Asn)
c.5686T>A (p.Tyr1896Asn)
c.5749T>A (p.Tyr1917Asn)
c.5719T>A (p.Tyr1907Asn)
c.5791T>A (p.Tyr1931Asn)
3g.38550525G>ACA433331532SCN5Ac.5844C>T (p.Ala1948=)
c.5847C>T (p.Ala1949=)
c.5793C>T (p.Ala1931=)
c.5685C>T (p.Ala1895=)
c.5748C>T (p.Ala1916=)
c.5718C>T (p.Ala1906=)
c.5790C>T (p.Ala1930=)
 gnomAD v4
3g.38550525G>CCA433331534SCN5Ac.5844C>G (p.Ala1948=)
c.5847C>G (p.Ala1949=)
c.5793C>G (p.Ala1931=)
c.5685C>G (p.Ala1895=)
c.5748C>G (p.Ala1916=)
c.5718C>G (p.Ala1906=)
c.5790C>G (p.Ala1930=)
3g.38550525G>TCA433331536SCN5Ac.5844C>A (p.Ala1948=)
c.5847C>A (p.Ala1949=)
c.5793C>A (p.Ala1931=)
c.5685C>A (p.Ala1895=)
c.5748C>A (p.Ala1916=)
c.5718C>A (p.Ala1906=)
c.5790C>A (p.Ala1930=)
3g.38550526G>ACA352139720SCN5Ac.5843C>T (p.Ala1948Val)
c.5846C>T (p.Ala1949Val)
c.5792C>T (p.Ala1931Val)
c.5684C>T (p.Ala1895Val)
c.5747C>T (p.Ala1916Val)
c.5717C>T (p.Ala1906Val)
c.5789C>T (p.Ala1930Val)
3g.38550526G>CCA352139724SCN5Ac.5843C>G (p.Ala1948Gly)
c.5846C>G (p.Ala1949Gly)
c.5792C>G (p.Ala1931Gly)
c.5684C>G (p.Ala1895Gly)
c.5747C>G (p.Ala1916Gly)
c.5717C>G (p.Ala1906Gly)
c.5789C>G (p.Ala1930Gly)
3g.38550526G>TCA352139722SCN5Ac.5843C>A (p.Ala1948Asp)
c.5846C>A (p.Ala1949Asp)
c.5792C>A (p.Ala1931Asp)
c.5684C>A (p.Ala1895Asp)
c.5747C>A (p.Ala1916Asp)
c.5717C>A (p.Ala1906Asp)
c.5789C>A (p.Ala1930Asp)
3g.38550527C>ACA019500SCN5Ac.5842G>T (p.Ala1948Ser)
c.5845G>T (p.Ala1949Ser)
c.5791G>T (p.Ala1931Ser)
c.5683G>T (p.Ala1895Ser)
c.5746G>T (p.Ala1916Ser)
c.5716G>T (p.Ala1906Ser)
c.5788G>T (p.Ala1930Ser)
 ClinVar dbSNP
3g.38550527C=CA1358555967SCN5Ac.5842G= (p.Ala1948=)
c.5845G= (p.Ala1949=)
c.5791G= (p.Ala1931=)
c.5683G= (p.Ala1895=)
c.5746G= (p.Ala1916=)
c.5716G= (p.Ala1906=)
c.5788G= (p.Ala1930=)
3g.38550527C>GCA352139727SCN5Ac.5842G>C (p.Ala1948Pro)
c.5845G>C (p.Ala1949Pro)
c.5791G>C (p.Ala1931Pro)
c.5683G>C (p.Ala1895Pro)
c.5746G>C (p.Ala1916Pro)
c.5716G>C (p.Ala1906Pro)
c.5788G>C (p.Ala1930Pro)
3g.38550527C>TCA019498SCN5Ac.5842G>A (p.Ala1948Thr)
c.5845G>A (p.Ala1949Thr)
c.5791G>A (p.Ala1931Thr)
c.5683G>A (p.Ala1895Thr)
c.5746G>A (p.Ala1916Thr)
c.5716G>A (p.Ala1906Thr)
c.5788G>A (p.Ala1930Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38550528G>ACA019494SCN5Ac.5841C>T (p.Ile1947=)
c.5844C>T (p.Ile1948=)
c.5790C>T (p.Ile1930=)
c.5682C>T (p.Ile1894=)
c.5745C>T (p.Ile1915=)
c.5715C>T (p.Ile1905=)
c.5787C>T (p.Ile1929=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550528G>CCA352139731SCN5Ac.5841C>G (p.Ile1947Met)
c.5844C>G (p.Ile1948Met)
c.5790C>G (p.Ile1930Met)
c.5682C>G (p.Ile1894Met)
c.5745C>G (p.Ile1915Met)
c.5715C>G (p.Ile1905Met)
c.5787C>G (p.Ile1929Met)
3g.38550528G=CA1358555974SCN5Ac.5841C= (p.Ile1947=)
c.5844C= (p.Ile1948=)
c.5790C= (p.Ile1930=)
c.5682C= (p.Ile1894=)
c.5745C= (p.Ile1915=)
c.5715C= (p.Ile1905=)
c.5787C= (p.Ile1929=)
3g.38550528G>TCA433331540SCN5Ac.5841C>A (p.Ile1947=)
c.5844C>A (p.Ile1948=)
c.5790C>A (p.Ile1930=)
c.5682C>A (p.Ile1894=)
c.5745C>A (p.Ile1915=)
c.5715C>A (p.Ile1905=)
c.5787C>A (p.Ile1929=)
3g.38550529A>CCA352139733SCN5Ac.5840T>G (p.Ile1947Ser)
c.5843T>G (p.Ile1948Ser)
c.5789T>G (p.Ile1930Ser)
c.5681T>G (p.Ile1894Ser)
c.5744T>G (p.Ile1915Ser)
c.5714T>G (p.Ile1905Ser)
c.5786T>G (p.Ile1929Ser)
3g.38550529A>GCA352139735SCN5Ac.5840T>C (p.Ile1947Thr)
c.5843T>C (p.Ile1948Thr)
c.5789T>C (p.Ile1930Thr)
c.5681T>C (p.Ile1894Thr)
c.5744T>C (p.Ile1915Thr)
c.5714T>C (p.Ile1905Thr)
c.5786T>C (p.Ile1929Thr)
 ClinVar
3g.38550529A>TCA352139736SCN5Ac.5840T>A (p.Ile1947Asn)
c.5843T>A (p.Ile1948Asn)
c.5789T>A (p.Ile1930Asn)
c.5681T>A (p.Ile1894Asn)
c.5744T>A (p.Ile1915Asn)
c.5714T>A (p.Ile1905Asn)
c.5786T>A (p.Ile1929Asn)
3g.38550530T>ACA352139738SCN5Ac.5839A>T (p.Ile1947Phe)
c.5842A>T (p.Ile1948Phe)
c.5788A>T (p.Ile1930Phe)
c.5680A>T (p.Ile1894Phe)
c.5743A>T (p.Ile1915Phe)
c.5713A>T (p.Ile1905Phe)
c.5785A>T (p.Ile1929Phe)
3g.38550530T>CCA064887SCN5Ac.5839A>G (p.Ile1947Val)
c.5842A>G (p.Ile1948Val)
c.5788A>G (p.Ile1930Val)
c.5680A>G (p.Ile1894Val)
c.5743A>G (p.Ile1915Val)
c.5713A>G (p.Ile1905Val)
c.5785A>G (p.Ile1929Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38550530T>GCA352139747SCN5Ac.5839A>C (p.Ile1947Leu)
c.5842A>C (p.Ile1948Leu)
c.5788A>C (p.Ile1930Leu)
c.5680A>C (p.Ile1894Leu)
c.5743A>C (p.Ile1915Leu)
c.5713A>C (p.Ile1905Leu)
c.5785A>C (p.Ile1929Leu)
3g.38550530T=CA1358555980SCN5Ac.5839A= (p.Ile1947=)
c.5842A= (p.Ile1948=)
c.5788A= (p.Ile1930=)
c.5680A= (p.Ile1894=)
c.5743A= (p.Ile1915=)
c.5713A= (p.Ile1905=)
c.5785A= (p.Ile1929=)
3g.38550531G>ACA433331542SCN5Ac.5838C>T (p.Leu1946=)
c.5841C>T (p.Leu1947=)
c.5787C>T (p.Leu1929=)
c.5679C>T (p.Leu1893=)
c.5742C>T (p.Leu1914=)
c.5712C>T (p.Leu1904=)
c.5784C>T (p.Leu1928=)
3g.38550531G>CCA433331544SCN5Ac.5838C>G (p.Leu1946=)
c.5841C>G (p.Leu1947=)
c.5787C>G (p.Leu1929=)
c.5679C>G (p.Leu1893=)
c.5742C>G (p.Leu1914=)
c.5712C>G (p.Leu1904=)
c.5784C>G (p.Leu1928=)
3g.38550531G>TCA433331546SCN5Ac.5838C>A (p.Leu1946=)
c.5841C>A (p.Leu1947=)
c.5787C>A (p.Leu1929=)
c.5679C>A (p.Leu1893=)
c.5742C>A (p.Leu1914=)
c.5712C>A (p.Leu1904=)
c.5784C>A (p.Leu1928=)
3g.38550532A>CCA352139753SCN5Ac.5837T>G (p.Leu1946Arg)
c.5840T>G (p.Leu1947Arg)
c.5786T>G (p.Leu1929Arg)
c.5678T>G (p.Leu1893Arg)
c.5741T>G (p.Leu1914Arg)
c.5711T>G (p.Leu1904Arg)
c.5783T>G (p.Leu1928Arg)
3g.38550532A>GCA352139751SCN5Ac.5837T>C (p.Leu1946Pro)
c.5840T>C (p.Leu1947Pro)
c.5786T>C (p.Leu1929Pro)
c.5678T>C (p.Leu1893Pro)
c.5741T>C (p.Leu1914Pro)
c.5711T>C (p.Leu1904Pro)
c.5783T>C (p.Leu1928Pro)
 gnomAD v4
3g.38550532A>TCA352139749SCN5Ac.5837T>A (p.Leu1946His)
c.5840T>A (p.Leu1947His)
c.5786T>A (p.Leu1929His)
c.5678T>A (p.Leu1893His)
c.5741T>A (p.Leu1914His)
c.5711T>A (p.Leu1904His)
c.5783T>A (p.Leu1928His)
3g.38550533G>ACA352139756SCN5Ac.5836C>T (p.Leu1946Phe)
c.5839C>T (p.Leu1947Phe)
c.5785C>T (p.Leu1929Phe)
c.5677C>T (p.Leu1893Phe)
c.5740C>T (p.Leu1914Phe)
c.5710C>T (p.Leu1904Phe)
c.5782C>T (p.Leu1928Phe)
 ClinVar dbSNP
3g.38550533G>CCA352139759SCN5Ac.5836C>G (p.Leu1946Val)
c.5839C>G (p.Leu1947Val)
c.5785C>G (p.Leu1929Val)
c.5677C>G (p.Leu1893Val)
c.5740C>G (p.Leu1914Val)
c.5710C>G (p.Leu1904Val)
c.5782C>G (p.Leu1928Val)
3g.38550533G=CA1358555983SCN5Ac.5836C= (p.Leu1946=)
c.5839C= (p.Leu1947=)
c.5785C= (p.Leu1929=)
c.5677C= (p.Leu1893=)
c.5740C= (p.Leu1914=)
c.5710C= (p.Leu1904=)
c.5782C= (p.Leu1928=)
3g.38550533G>TCA352139757SCN5Ac.5836C>A (p.Leu1946Ile)
c.5839C>A (p.Leu1947Ile)
c.5785C>A (p.Leu1929Ile)
c.5677C>A (p.Leu1893Ile)
c.5740C>A (p.Leu1914Ile)
c.5710C>A (p.Leu1904Ile)
c.5782C>A (p.Leu1928Ile)
3g.38550534G>ACA433331684SCN5Ac.5835C>T (p.Gly1945=)
c.5838C>T (p.Gly1946=)
c.5784C>T (p.Gly1928=)
c.5676C>T (p.Gly1892=)
c.5739C>T (p.Gly1913=)
c.5709C>T (p.Gly1903=)
c.5781C>T (p.Gly1927=)
 gnomAD v4
3g.38550534G>CCA433331685SCN5Ac.5835C>G (p.Gly1945=)
c.5838C>G (p.Gly1946=)
c.5784C>G (p.Gly1928=)
c.5676C>G (p.Gly1892=)
c.5739C>G (p.Gly1913=)
c.5709C>G (p.Gly1903=)
c.5781C>G (p.Gly1927=)
3g.38550534G=CA1358555987SCN5Ac.5835C= (p.Gly1945=)
c.5838C= (p.Gly1946=)
c.5784C= (p.Gly1928=)
c.5676C= (p.Gly1892=)
c.5739C= (p.Gly1913=)
c.5709C= (p.Gly1903=)
c.5781C= (p.Gly1927=)
3g.38550534G>TCA064882SCN5Ac.5835C>A (p.Gly1945=)
c.5838C>A (p.Gly1946=)
c.5784C>A (p.Gly1928=)
c.5676C>A (p.Gly1892=)
c.5739C>A (p.Gly1913=)
c.5709C>A (p.Gly1903=)
c.5781C>A (p.Gly1927=)
 dbSNP ExAC gnomAD v2
3g.38550535C>ACA352139764SCN5Ac.5834G>T (p.Gly1945Val)
c.5837G>T (p.Gly1946Val)
c.5783G>T (p.Gly1928Val)
c.5675G>T (p.Gly1892Val)
c.5738G>T (p.Gly1913Val)
c.5708G>T (p.Gly1903Val)
c.5780G>T (p.Gly1927Val)
 ClinVar
3g.38550535C=CA1358555991SCN5Ac.5834G= (p.Gly1945=)
c.5837G= (p.Gly1946=)
c.5783G= (p.Gly1928=)
c.5675G= (p.Gly1892=)
c.5738G= (p.Gly1913=)
c.5708G= (p.Gly1903=)
c.5780G= (p.Gly1927=)
3g.38550535C>GCA352139762SCN5Ac.5834G>C (p.Gly1945Ala)
c.5837G>C (p.Gly1946Ala)
c.5783G>C (p.Gly1928Ala)
c.5675G>C (p.Gly1892Ala)
c.5738G>C (p.Gly1913Ala)
c.5708G>C (p.Gly1903Ala)
c.5780G>C (p.Gly1927Ala)
 gnomAD v4
3g.38550535C>TCA352139766SCN5Ac.5834G>A (p.Gly1945Asp)
c.5837G>A (p.Gly1946Asp)
c.5783G>A (p.Gly1928Asp)
c.5675G>A (p.Gly1892Asp)
c.5738G>A (p.Gly1913Asp)
c.5708G>A (p.Gly1903Asp)
c.5780G>A (p.Gly1927Asp)
 dbSNP gnomAD v4
3g.38550536C>ACA352139768SCN5Ac.5833G>T (p.Gly1945Cys)
c.5836G>T (p.Gly1946Cys)
c.5782G>T (p.Gly1928Cys)
c.5674G>T (p.Gly1892Cys)
c.5737G>T (p.Gly1913Cys)
c.5707G>T (p.Gly1903Cys)
c.5779G>T (p.Gly1927Cys)
3g.38550536C>GCA352139769SCN5Ac.5833G>C (p.Gly1945Arg)
c.5836G>C (p.Gly1946Arg)
c.5782G>C (p.Gly1928Arg)
c.5674G>C (p.Gly1892Arg)
c.5737G>C (p.Gly1913Arg)
c.5707G>C (p.Gly1903Arg)
c.5779G>C (p.Gly1927Arg)
3g.38550536C>TCA352139770SCN5Ac.5833G>A (p.Gly1945Ser)
c.5836G>A (p.Gly1946Ser)
c.5782G>A (p.Gly1928Ser)
c.5674G>A (p.Gly1892Ser)
c.5737G>A (p.Gly1913Ser)
c.5707G>A (p.Gly1903Ser)
c.5779G>A (p.Gly1927Ser)
3g.38550537C>ACA352139771SCN5Ac.5832G>T (p.Glu1944Asp)
c.5835G>T (p.Glu1945Asp)
c.5781G>T (p.Glu1927Asp)
c.5673G>T (p.Glu1891Asp)
c.5736G>T (p.Glu1912Asp)
c.5706G>T (p.Glu1902Asp)
c.5778G>T (p.Glu1926Asp)
3g.38550537C>GCA352139772SCN5Ac.5832G>C (p.Glu1944Asp)
c.5835G>C (p.Glu1945Asp)
c.5781G>C (p.Glu1927Asp)
c.5673G>C (p.Glu1891Asp)
c.5736G>C (p.Glu1912Asp)
c.5706G>C (p.Glu1902Asp)
c.5778G>C (p.Glu1926Asp)
 ClinVar
3g.38550537C>TCA433331693SCN5Ac.5832G>A (p.Glu1944=)
c.5835G>A (p.Glu1945=)
c.5781G>A (p.Glu1927=)
c.5673G>A (p.Glu1891=)
c.5736G>A (p.Glu1912=)
c.5706G>A (p.Glu1902=)
c.5778G>A (p.Glu1926=)
3g.38550538T>ACA352139774SCN5Ac.5831A>T (p.Glu1944Val)
c.5834A>T (p.Glu1945Val)
c.5780A>T (p.Glu1927Val)
c.5672A>T (p.Glu1891Val)
c.5735A>T (p.Glu1912Val)
c.5705A>T (p.Glu1902Val)
c.5777A>T (p.Glu1926Val)
 gnomAD v4
3g.38550538T>CCA352139776SCN5Ac.5831A>G (p.Glu1944Gly)
c.5834A>G (p.Glu1945Gly)
c.5780A>G (p.Glu1927Gly)
c.5672A>G (p.Glu1891Gly)
c.5735A>G (p.Glu1912Gly)
c.5705A>G (p.Glu1902Gly)
c.5777A>G (p.Glu1926Gly)
3g.38550538T>GCA352139777SCN5Ac.5831A>C (p.Glu1944Ala)
c.5834A>C (p.Glu1945Ala)
c.5780A>C (p.Glu1927Ala)
c.5672A>C (p.Glu1891Ala)
c.5735A>C (p.Glu1912Ala)
c.5705A>C (p.Glu1902Ala)
c.5777A>C (p.Glu1926Ala)
3g.38550538_38550542delinsTCTCGCA1358555993SCN5Ac.5827_5831delinsCGAGA (p.Arg1943=)
c.5830_5834delinsCGAGA (p.Arg1944=)
c.5776_5780delinsCGAGA (p.Arg1926=)
c.5668_5672delinsCGAGA (p.Arg1890=)
c.5731_5735delinsCGAGA (p.Arg1911=)
c.5701_5705delinsCGAGA (p.Arg1901=)
c.5773_5777delinsCGAGA (p.Arg1925=)
3g.38550539C>ACA352139778SCN5Ac.5830G>T (p.Glu1944Ter)
c.5833G>T (p.Glu1945Ter)
c.5779G>T (p.Glu1927Ter)
c.5671G>T (p.Glu1891Ter)
c.5734G>T (p.Glu1912Ter)
c.5704G>T (p.Glu1902Ter)
c.5776G>T (p.Glu1926Ter)
3g.38550539C>GCA352139780SCN5Ac.5830G>C (p.Glu1944Gln)
c.5833G>C (p.Glu1945Gln)
c.5779G>C (p.Glu1927Gln)
c.5671G>C (p.Glu1891Gln)
c.5734G>C (p.Glu1912Gln)
c.5704G>C (p.Glu1902Gln)
c.5776G>C (p.Glu1926Gln)
3g.38550539C>TCA352139782SCN5Ac.5830G>A (p.Glu1944Lys)
c.5833G>A (p.Glu1945Lys)
c.5779G>A (p.Glu1927Lys)
c.5671G>A (p.Glu1891Lys)
c.5734G>A (p.Glu1912Lys)
c.5704G>A (p.Glu1902Lys)
c.5776G>A (p.Glu1926Lys)
3g.38550542_38550545delCA1139657956SCN5Ac.5827_5830del (p.Glu1944AlafsTer6)
c.5830_5833del (p.Glu1945AlafsTer6)
c.5776_5779del (p.Glu1927AlafsTer6)
c.5668_5671del (p.Glu1891AlafsTer6)
c.5731_5734del (p.Glu1912AlafsTer6)
c.5701_5704del (p.Glu1902AlafsTer6)
c.5773_5776del (p.Glu1926AlafsTer6)
 ClinVar dbSNP gnomAD v4
3g.38550540T>ACA433331698SCN5Ac.5829A>T (p.Arg1943=)
c.5832A>T (p.Arg1944=)
c.5778A>T (p.Arg1926=)
c.5670A>T (p.Arg1890=)
c.5733A>T (p.Arg1911=)
c.5703A>T (p.Arg1901=)
c.5775A>T (p.Arg1925=)
3g.38550540T>CCA433331699SCN5Ac.5829A>G (p.Arg1943=)
c.5832A>G (p.Arg1944=)
c.5778A>G (p.Arg1926=)
c.5670A>G (p.Arg1890=)
c.5733A>G (p.Arg1911=)
c.5703A>G (p.Arg1901=)
c.5775A>G (p.Arg1925=)
3g.38550540T>GCA433331701SCN5Ac.5829A>C (p.Arg1943=)
c.5832A>C (p.Arg1944=)
c.5778A>C (p.Arg1926=)
c.5670A>C (p.Arg1890=)
c.5733A>C (p.Arg1911=)
c.5703A>C (p.Arg1901=)
c.5775A>C (p.Arg1925=)
3g.38550541C>ACA352139786SCN5Ac.5828G>T (p.Arg1943Leu)
c.5831G>T (p.Arg1944Leu)
c.5777G>T (p.Arg1926Leu)
c.5669G>T (p.Arg1890Leu)
c.5732G>T (p.Arg1911Leu)
c.5702G>T (p.Arg1901Leu)
c.5774G>T (p.Arg1925Leu)
3g.38550541C=CA1358555999SCN5Ac.5828G= (p.Arg1943=)
c.5831G= (p.Arg1944=)
c.5777G= (p.Arg1926=)
c.5669G= (p.Arg1890=)
c.5732G= (p.Arg1911=)
c.5702G= (p.Arg1901=)
c.5774G= (p.Arg1925=)
3g.38550541C>GCA352139783SCN5Ac.5828G>C (p.Arg1943Pro)
c.5831G>C (p.Arg1944Pro)
c.5777G>C (p.Arg1926Pro)
c.5669G>C (p.Arg1890Pro)
c.5732G>C (p.Arg1911Pro)
c.5702G>C (p.Arg1901Pro)
c.5774G>C (p.Arg1925Pro)
 gnomAD v4
3g.38550541C>TCA064872SCN5Ac.5828G>A (p.Arg1943Gln)
c.5831G>A (p.Arg1944Gln)
c.5777G>A (p.Arg1926Gln)
c.5669G>A (p.Arg1890Gln)
c.5732G>A (p.Arg1911Gln)
c.5702G>A (p.Arg1901Gln)
c.5774G>A (p.Arg1925Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38550542G>ACA019491SCN5Ac.5827C>T (p.Arg1943Ter)
c.5830C>T (p.Arg1944Ter)
c.5776C>T (p.Arg1926Ter)
c.5668C>T (p.Arg1890Ter)
c.5731C>T (p.Arg1911Ter)
c.5701C>T (p.Arg1901Ter)
c.5773C>T (p.Arg1925Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38550542G>CCA352139788SCN5Ac.5827C>G (p.Arg1943Gly)
c.5830C>G (p.Arg1944Gly)
c.5776C>G (p.Arg1926Gly)
c.5668C>G (p.Arg1890Gly)
c.5731C>G (p.Arg1911Gly)
c.5701C>G (p.Arg1901Gly)
c.5773C>G (p.Arg1925Gly)
3g.38550542G=CA1358556005SCN5Ac.5827C= (p.Arg1943=)
c.5830C= (p.Arg1944=)
c.5776C= (p.Arg1926=)
c.5668C= (p.Arg1890=)
c.5731C= (p.Arg1911=)
c.5701C= (p.Arg1901=)
c.5773C= (p.Arg1925=)
3g.38550542G>TCA433331706SCN5Ac.5827C>A (p.Arg1943=)
c.5830C>A (p.Arg1944=)
c.5776C>A (p.Arg1926=)
c.5668C>A (p.Arg1890=)
c.5731C>A (p.Arg1911=)
c.5701C>A (p.Arg1901=)
c.5773C>A (p.Arg1925=)
3g.38550543C>ACA352139790SCN5Ac.5826G>T (p.Glu1942Asp)
c.5829G>T (p.Glu1943Asp)
c.5775G>T (p.Glu1925Asp)
c.5667G>T (p.Glu1889Asp)
c.5730G>T (p.Glu1910Asp)
c.5700G>T (p.Glu1900Asp)
c.5772G>T (p.Glu1924Asp)
3g.38550543C>GCA352139792SCN5Ac.5826G>C (p.Glu1942Asp)
c.5829G>C (p.Glu1943Asp)
c.5775G>C (p.Glu1925Asp)
c.5667G>C (p.Glu1889Asp)
c.5730G>C (p.Glu1910Asp)
c.5700G>C (p.Glu1900Asp)
c.5772G>C (p.Glu1924Asp)
3g.38550543C>TCA433331709SCN5Ac.5826G>A (p.Glu1942=)
c.5829G>A (p.Glu1943=)
c.5775G>A (p.Glu1925=)
c.5667G>A (p.Glu1889=)
c.5730G>A (p.Glu1910=)
c.5700G>A (p.Glu1900=)
c.5772G>A (p.Glu1924=)
3g.38550544T>ACA352139794SCN5Ac.5825A>T (p.Glu1942Val)
c.5828A>T (p.Glu1943Val)
c.5774A>T (p.Glu1925Val)
c.5666A>T (p.Glu1889Val)
c.5729A>T (p.Glu1910Val)
c.5699A>T (p.Glu1900Val)
c.5771A>T (p.Glu1924Val)
3g.38550544T>CCA352139796SCN5Ac.5825A>G (p.Glu1942Gly)
c.5828A>G (p.Glu1943Gly)
c.5774A>G (p.Glu1925Gly)
c.5666A>G (p.Glu1889Gly)
c.5729A>G (p.Glu1910Gly)
c.5699A>G (p.Glu1900Gly)
c.5771A>G (p.Glu1924Gly)
 ClinVar dbSNP
3g.38550544T>GCA352139798SCN5Ac.5825A>C (p.Glu1942Ala)
c.5828A>C (p.Glu1943Ala)
c.5774A>C (p.Glu1925Ala)
c.5666A>C (p.Glu1889Ala)
c.5729A>C (p.Glu1910Ala)
c.5699A>C (p.Glu1900Ala)
c.5771A>C (p.Glu1924Ala)
3g.38550544T=CA1358556012SCN5Ac.5825A= (p.Glu1942=)
c.5828A= (p.Glu1943=)
c.5774A= (p.Glu1925=)
c.5666A= (p.Glu1889=)
c.5729A= (p.Glu1910=)
c.5699A= (p.Glu1900=)
c.5771A= (p.Glu1924=)
3g.38550545C>ACA352139800SCN5Ac.5824G>T (p.Glu1942Ter)
c.5827G>T (p.Glu1943Ter)
c.5773G>T (p.Glu1925Ter)
c.5665G>T (p.Glu1889Ter)
c.5728G>T (p.Glu1910Ter)
c.5698G>T (p.Glu1900Ter)
c.5770G>T (p.Glu1924Ter)
 dbSNP
3g.38550545C=CA1358556014SCN5Ac.5824G= (p.Glu1942=)
c.5827G= (p.Glu1943=)
c.5773G= (p.Glu1925=)
c.5665G= (p.Glu1889=)
c.5728G= (p.Glu1910=)
c.5698G= (p.Glu1900=)
c.5770G= (p.Glu1924=)
3g.38550545C>GCA352139802SCN5Ac.5824G>C (p.Glu1942Gln)
c.5827G>C (p.Glu1943Gln)
c.5773G>C (p.Glu1925Gln)
c.5665G>C (p.Glu1889Gln)
c.5728G>C (p.Glu1910Gln)
c.5698G>C (p.Glu1900Gln)
c.5770G>C (p.Glu1924Gln)
3g.38550545C>TCA352139803SCN5Ac.5824G>A (p.Glu1942Lys)
c.5827G>A (p.Glu1943Lys)
c.5773G>A (p.Glu1925Lys)
c.5665G>A (p.Glu1889Lys)
c.5728G>A (p.Glu1910Lys)
c.5698G>A (p.Glu1900Lys)
c.5770G>A (p.Glu1924Lys)
 dbSNP gnomAD v4
3g.38550545_38550547delinsCAGCA1358556016SCN5Ac.5822_5824delinsCTG (p.Pro1941=)
c.5825_5827delinsCTG (p.Pro1942=)
c.5771_5773delinsCTG (p.Pro1924=)
c.5663_5665delinsCTG (p.Pro1888=)
c.5726_5728delinsCTG (p.Pro1909=)
c.5696_5698delinsCTG (p.Pro1899=)
c.5768_5770delinsCTG (p.Pro1923=)
3g.38550546A>CCA433331720SCN5Ac.5823T>G (p.Pro1941=)
c.5826T>G (p.Pro1942=)
c.5772T>G (p.Pro1924=)
c.5664T>G (p.Pro1888=)
c.5727T>G (p.Pro1909=)
c.5697T>G (p.Pro1899=)
c.5769T>G (p.Pro1923=)
 ClinVar dbSNP
3g.38550546A>GCA433331721SCN5Ac.5823T>C (p.Pro1941=)
c.5826T>C (p.Pro1942=)
c.5772T>C (p.Pro1924=)
c.5664T>C (p.Pro1888=)
c.5727T>C (p.Pro1909=)
c.5697T>C (p.Pro1899=)
c.5769T>C (p.Pro1923=)
3g.38550546A>TCA433331722SCN5Ac.5823T>A (p.Pro1941=)
c.5826T>A (p.Pro1942=)
c.5772T>A (p.Pro1924=)
c.5664T>A (p.Pro1888=)
c.5727T>A (p.Pro1909=)
c.5697T>A (p.Pro1899=)
c.5769T>A (p.Pro1923=)
3g.38550546_38550547delCA658822522SCN5Ac.5822_5823del (p.Pro1941ArgfsTer12)
c.5825_5826del (p.Pro1942ArgfsTer12)
c.5771_5772del (p.Pro1924ArgfsTer12)
c.5663_5664del (p.Pro1888ArgfsTer12)
c.5726_5727del (p.Pro1909ArgfsTer12)
c.5696_5697del (p.Pro1899ArgfsTer12)
c.5768_5769del (p.Pro1923ArgfsTer12)
 ClinVar dbSNP gnomAD v4
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.38550547G>ACA352139808SCN5Ac.5822C>T (p.Pro1941Leu)
c.5825C>T (p.Pro1942Leu)
c.5771C>T (p.Pro1924Leu)
c.5663C>T (p.Pro1888Leu)
c.5726C>T (p.Pro1909Leu)
c.5696C>T (p.Pro1899Leu)
c.5768C>T (p.Pro1923Leu)
3g.38550547G>CCA352139809SCN5Ac.5822C>G (p.Pro1941Arg)
c.5825C>G (p.Pro1942Arg)
c.5771C>G (p.Pro1924Arg)
c.5663C>G (p.Pro1888Arg)
c.5726C>G (p.Pro1909Arg)
c.5696C>G (p.Pro1899Arg)
c.5768C>G (p.Pro1923Arg)
3g.38550547G=CA1358556028SCN5Ac.5822C= (p.Pro1941=)
c.5825C= (p.Pro1942=)
c.5771C= (p.Pro1924=)
c.5663C= (p.Pro1888=)
c.5726C= (p.Pro1909=)
c.5696C= (p.Pro1899=)
c.5768C= (p.Pro1923=)
3g.38550547G>TCA352139806SCN5Ac.5822C>A (p.Pro1941His)
c.5825C>A (p.Pro1942His)
c.5771C>A (p.Pro1924His)
c.5663C>A (p.Pro1888His)
c.5726C>A (p.Pro1909His)
c.5696C>A (p.Pro1899His)
c.5768C>A (p.Pro1923His)
 dbSNP gnomAD v2 gnomAD v4
3g.38550550delCA2665106299SCN5Ac.5822del (p.Pro1941LeufsTer10)
c.5825del (p.Pro1942LeufsTer10)
c.5771del (p.Pro1924LeufsTer10)
c.5663del (p.Pro1888LeufsTer10)
c.5726del (p.Pro1909LeufsTer10)
c.5696del (p.Pro1899LeufsTer10)
c.5768del (p.Pro1923LeufsTer10)
 gnomAD v4
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.38550548G>ACA064869SCN5Ac.5821C>T (p.Pro1941Ser)
c.5824C>T (p.Pro1942Ser)
c.5770C>T (p.Pro1924Ser)
c.5662C>T (p.Pro1888Ser)
c.5725C>T (p.Pro1909Ser)
c.5695C>T (p.Pro1899Ser)
c.5767C>T (p.Pro1923Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38550548G>CCA352139812SCN5Ac.5821C>G (p.Pro1941Ala)
c.5824C>G (p.Pro1942Ala)
c.5770C>G (p.Pro1924Ala)
c.5662C>G (p.Pro1888Ala)
c.5725C>G (p.Pro1909Ala)
c.5695C>G (p.Pro1899Ala)
c.5767C>G (p.Pro1923Ala)
3g.38550548G=CA1358556030SCN5Ac.5821C= (p.Pro1941=)
c.5824C= (p.Pro1942=)
c.5770C= (p.Pro1924=)
c.5662C= (p.Pro1888=)
c.5725C= (p.Pro1909=)
c.5695C= (p.Pro1899=)
c.5767C= (p.Pro1923=)
3g.38550548G>TCA352139813SCN5Ac.5821C>A (p.Pro1941Thr)
c.5824C>A (p.Pro1942Thr)
c.5770C>A (p.Pro1924Thr)
c.5662C>A (p.Pro1888Thr)
c.5725C>A (p.Pro1909Thr)
c.5695C>A (p.Pro1899Thr)
c.5767C>A (p.Pro1923Thr)
 gnomAD v4
3g.38550549G>ACA433331728SCN5Ac.5820C>T (p.Ala1940=)
c.5823C>T (p.Ala1941=)
c.5769C>T (p.Ala1923=)
c.5661C>T (p.Ala1887=)
c.5724C>T (p.Ala1908=)
c.5694C>T (p.Ala1898=)
c.5766C>T (p.Ala1922=)
 ClinVar dbSNP
3g.38550549G>CCA433331730SCN5Ac.5820C>G (p.Ala1940=)
c.5823C>G (p.Ala1941=)
c.5769C>G (p.Ala1923=)
c.5661C>G (p.Ala1887=)
c.5724C>G (p.Ala1908=)
c.5694C>G (p.Ala1898=)
c.5766C>G (p.Ala1922=)
3g.38550549G>TCA433331729SCN5Ac.5820C>A (p.Ala1940=)
c.5823C>A (p.Ala1941=)
c.5769C>A (p.Ala1923=)
c.5661C>A (p.Ala1887=)
c.5724C>A (p.Ala1908=)
c.5694C>A (p.Ala1898=)
c.5766C>A (p.Ala1922=)
3g.38550550G>ACA352139814SCN5Ac.5819C>T (p.Ala1940Val)
c.5822C>T (p.Ala1941Val)
c.5768C>T (p.Ala1923Val)
c.5660C>T (p.Ala1887Val)
c.5723C>T (p.Ala1908Val)
c.5693C>T (p.Ala1898Val)
c.5765C>T (p.Ala1922Val)
 gnomAD v4
3g.38550550G>CCA352139816SCN5Ac.5819C>G (p.Ala1940Gly)
c.5822C>G (p.Ala1941Gly)
c.5768C>G (p.Ala1923Gly)
c.5660C>G (p.Ala1887Gly)
c.5723C>G (p.Ala1908Gly)
c.5693C>G (p.Ala1898Gly)
c.5765C>G (p.Ala1922Gly)
3g.38550550G>TCA352139818SCN5Ac.5819C>A (p.Ala1940Asp)
c.5822C>A (p.Ala1941Asp)
c.5768C>A (p.Ala1923Asp)
c.5660C>A (p.Ala1887Asp)
c.5723C>A (p.Ala1908Asp)
c.5693C>A (p.Ala1898Asp)
c.5765C>A (p.Ala1922Asp)
3g.38550551C>ACA352139819SCN5Ac.5818G>T (p.Ala1940Ser)
c.5821G>T (p.Ala1941Ser)
c.5767G>T (p.Ala1923Ser)
c.5659G>T (p.Ala1887Ser)
c.5722G>T (p.Ala1908Ser)
c.5692G>T (p.Ala1898Ser)
c.5764G>T (p.Ala1922Ser)
3g.38550551C=CA1358556032SCN5Ac.5818G= (p.Ala1940=)
c.5821G= (p.Ala1941=)
c.5767G= (p.Ala1923=)
c.5659G= (p.Ala1887=)
c.5722G= (p.Ala1908=)
c.5692G= (p.Ala1898=)
c.5764G= (p.Ala1922=)
3g.38550551C>GCA352139821SCN5Ac.5818G>C (p.Ala1940Pro)
c.5821G>C (p.Ala1941Pro)
c.5767G>C (p.Ala1923Pro)
c.5659G>C (p.Ala1887Pro)
c.5722G>C (p.Ala1908Pro)
c.5692G>C (p.Ala1898Pro)
c.5764G>C (p.Ala1922Pro)
3g.38550551C>TCA352139822SCN5Ac.5818G>A (p.Ala1940Thr)
c.5821G>A (p.Ala1941Thr)
c.5767G>A (p.Ala1923Thr)
c.5659G>A (p.Ala1887Thr)
c.5722G>A (p.Ala1908Thr)
c.5692G>A (p.Ala1898Thr)
c.5764G>A (p.Ala1922Thr)
 dbSNP
3g.38550552A>CCA352139823SCN5Ac.5817T>G (p.Asp1939Glu)
c.5820T>G (p.Asp1940Glu)
c.5766T>G (p.Asp1922Glu)
c.5658T>G (p.Asp1886Glu)
c.5721T>G (p.Asp1907Glu)
c.5691T>G (p.Asp1897Glu)
c.5763T>G (p.Asp1921Glu)
3g.38550552A>GCA433331739SCN5Ac.5817T>C (p.Asp1939=)
c.5820T>C (p.Asp1940=)
c.5766T>C (p.Asp1922=)
c.5658T>C (p.Asp1886=)
c.5721T>C (p.Asp1907=)
c.5691T>C (p.Asp1897=)
c.5763T>C (p.Asp1921=)
 gnomAD v4
3g.38550552A>TCA352139825SCN5Ac.5817T>A (p.Asp1939Glu)
c.5820T>A (p.Asp1940Glu)
c.5766T>A (p.Asp1922Glu)
c.5658T>A (p.Asp1886Glu)
c.5721T>A (p.Asp1907Glu)
c.5691T>A (p.Asp1897Glu)
c.5763T>A (p.Asp1921Glu)
3g.38550553T>ACA352139830SCN5Ac.5816A>T (p.Asp1939Val)
c.5819A>T (p.Asp1940Val)
c.5765A>T (p.Asp1922Val)
c.5657A>T (p.Asp1886Val)
c.5720A>T (p.Asp1907Val)
c.5690A>T (p.Asp1897Val)
c.5762A>T (p.Asp1921Val)
3g.38550553T>CCA352139829SCN5Ac.5816A>G (p.Asp1939Gly)
c.5819A>G (p.Asp1940Gly)
c.5765A>G (p.Asp1922Gly)
c.5657A>G (p.Asp1886Gly)
c.5720A>G (p.Asp1907Gly)
c.5690A>G (p.Asp1897Gly)
c.5762A>G (p.Asp1921Gly)
3g.38550553T>GCA352139827SCN5Ac.5816A>C (p.Asp1939Ala)
c.5819A>C (p.Asp1940Ala)
c.5765A>C (p.Asp1922Ala)
c.5657A>C (p.Asp1886Ala)
c.5720A>C (p.Asp1907Ala)
c.5690A>C (p.Asp1897Ala)
c.5762A>C (p.Asp1921Ala)
3g.38550554C>ACA352139833SCN5Ac.5815G>T (p.Asp1939Tyr)
c.5818G>T (p.Asp1940Tyr)
c.5764G>T (p.Asp1922Tyr)
c.5656G>T (p.Asp1886Tyr)
c.5719G>T (p.Asp1907Tyr)
c.5689G>T (p.Asp1897Tyr)
c.5761G>T (p.Asp1921Tyr)
 dbSNP gnomAD v3 gnomAD v4
3g.38550554C=CA1358556036SCN5Ac.5815G= (p.Asp1939=)
c.5818G= (p.Asp1940=)
c.5764G= (p.Asp1922=)
c.5656G= (p.Asp1886=)
c.5719G= (p.Asp1907=)
c.5689G= (p.Asp1897=)
c.5761G= (p.Asp1921=)
3g.38550554C>GCA352139834SCN5Ac.5815G>C (p.Asp1939His)
c.5818G>C (p.Asp1940His)
c.5764G>C (p.Asp1922His)
c.5656G>C (p.Asp1886His)
c.5719G>C (p.Asp1907His)
c.5689G>C (p.Asp1897His)
c.5761G>C (p.Asp1921His)
3g.38550554C>TCA352139836SCN5Ac.5815G>A (p.Asp1939Asn)
c.5818G>A (p.Asp1940Asn)
c.5764G>A (p.Asp1922Asn)
c.5656G>A (p.Asp1886Asn)
c.5719G>A (p.Asp1907Asn)
c.5689G>A (p.Asp1897Asn)
c.5761G>A (p.Asp1921Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38550555C>ACA352139837SCN5Ac.5814G>T (p.Glu1938Asp)
c.5817G>T (p.Glu1939Asp)
c.5763G>T (p.Glu1921Asp)
c.5655G>T (p.Glu1885Asp)
c.5718G>T (p.Glu1906Asp)
c.5688G>T (p.Glu1896Asp)
c.5760G>T (p.Glu1920Asp)
 ClinVar dbSNP
3g.38550555C>GCA352139838SCN5Ac.5814G>C (p.Glu1938Asp)
c.5817G>C (p.Glu1939Asp)
c.5763G>C (p.Glu1921Asp)
c.5655G>C (p.Glu1885Asp)
c.5718G>C (p.Glu1906Asp)
c.5688G>C (p.Glu1896Asp)
c.5760G>C (p.Glu1920Asp)
3g.38550555C>TCA433331749SCN5Ac.5814G>A (p.Glu1938=)
c.5817G>A (p.Glu1939=)
c.5763G>A (p.Glu1921=)
c.5655G>A (p.Glu1885=)
c.5718G>A (p.Glu1906=)
c.5688G>A (p.Glu1896=)
c.5760G>A (p.Glu1920=)
 ClinVar
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

Number of alleles fetched