Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38550431T>ACA352139382SCN5Ac.5938A>T (p.Thr1980Ser)
c.5941A>T (p.Thr1981Ser)
c.5887A>T (p.Thr1963Ser)
c.5779A>T (p.Thr1927Ser)
c.5842A>T (p.Thr1948Ser)
c.5812A>T (p.Thr1938Ser)
c.5884A>T (p.Thr1962Ser)
3g.38550431T>CCA352139380SCN5Ac.5938A>G (p.Thr1980Ala)
c.5941A>G (p.Thr1981Ala)
c.5887A>G (p.Thr1963Ala)
c.5779A>G (p.Thr1927Ala)
c.5842A>G (p.Thr1948Ala)
c.5812A>G (p.Thr1938Ala)
c.5884A>G (p.Thr1962Ala)
 ClinVar dbSNP
3g.38550431T>GCA352139378SCN5Ac.5938A>C (p.Thr1980Pro)
c.5941A>C (p.Thr1981Pro)
c.5887A>C (p.Thr1963Pro)
c.5779A>C (p.Thr1927Pro)
c.5842A>C (p.Thr1948Pro)
c.5812A>C (p.Thr1938Pro)
c.5884A>C (p.Thr1962Pro)
3g.38550431T=CA1358555750SCN5Ac.5938A= (p.Thr1980=)
c.5941A= (p.Thr1981=)
c.5887A= (p.Thr1963=)
c.5779A= (p.Thr1927=)
c.5842A= (p.Thr1948=)
c.5812A= (p.Thr1938=)
c.5884A= (p.Thr1962=)
3g.38550432G>ACA433331419SCN5Ac.5937C>T (p.Val1979=)
c.5940C>T (p.Val1980=)
c.5886C>T (p.Val1962=)
c.5778C>T (p.Val1926=)
c.5841C>T (p.Val1947=)
c.5811C>T (p.Val1937=)
c.5883C>T (p.Val1961=)
3g.38550432G>CCA065030SCN5Ac.5937C>G (p.Val1979=)
c.5940C>G (p.Val1980=)
c.5886C>G (p.Val1962=)
c.5778C>G (p.Val1926=)
c.5841C>G (p.Val1947=)
c.5811C>G (p.Val1937=)
c.5883C>G (p.Val1961=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38550432G=CA1358555754SCN5Ac.5937C= (p.Val1979=)
c.5940C= (p.Val1980=)
c.5886C= (p.Val1962=)
c.5778C= (p.Val1926=)
c.5841C= (p.Val1947=)
c.5811C= (p.Val1937=)
c.5883C= (p.Val1961=)
3g.38550432G>TCA433331420SCN5Ac.5937C>A (p.Val1979=)
c.5940C>A (p.Val1980=)
c.5886C>A (p.Val1962=)
c.5778C>A (p.Val1926=)
c.5841C>A (p.Val1947=)
c.5811C>A (p.Val1937=)
c.5883C>A (p.Val1961=)
 gnomAD v4
3g.38550433A>CCA352139385SCN5Ac.5936T>G (p.Val1979Gly)
c.5939T>G (p.Val1980Gly)
c.5885T>G (p.Val1962Gly)
c.5777T>G (p.Val1926Gly)
c.5840T>G (p.Val1947Gly)
c.5810T>G (p.Val1937Gly)
c.5882T>G (p.Val1961Gly)
3g.38550433A>GCA352139387SCN5Ac.5936T>C (p.Val1979Ala)
c.5939T>C (p.Val1980Ala)
c.5885T>C (p.Val1962Ala)
c.5777T>C (p.Val1926Ala)
c.5840T>C (p.Val1947Ala)
c.5810T>C (p.Val1937Ala)
c.5882T>C (p.Val1961Ala)
3g.38550433A>TCA352139388SCN5Ac.5936T>A (p.Val1979Asp)
c.5939T>A (p.Val1980Asp)
c.5885T>A (p.Val1962Asp)
c.5777T>A (p.Val1926Asp)
c.5840T>A (p.Val1947Asp)
c.5810T>A (p.Val1937Asp)
c.5882T>A (p.Val1961Asp)
3g.38550434C>ACA065024SCN5Ac.5935G>T (p.Val1979Phe)
c.5938G>T (p.Val1980Phe)
c.5884G>T (p.Val1962Phe)
c.5776G>T (p.Val1926Phe)
c.5839G>T (p.Val1947Phe)
c.5809G>T (p.Val1937Phe)
c.5881G>T (p.Val1961Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550434C=CA1358555758SCN5Ac.5935G= (p.Val1979=)
c.5938G= (p.Val1980=)
c.5884G= (p.Val1962=)
c.5776G= (p.Val1926=)
c.5839G= (p.Val1947=)
c.5809G= (p.Val1937=)
c.5881G= (p.Val1961=)
3g.38550434C>GCA352139391SCN5Ac.5935G>C (p.Val1979Leu)
c.5938G>C (p.Val1980Leu)
c.5884G>C (p.Val1962Leu)
c.5776G>C (p.Val1926Leu)
c.5839G>C (p.Val1947Leu)
c.5809G>C (p.Val1937Leu)
c.5881G>C (p.Val1961Leu)
 dbSNP gnomAD v2
3g.38550434C>TCA352139393SCN5Ac.5935G>A (p.Val1979Ile)
c.5938G>A (p.Val1980Ile)
c.5884G>A (p.Val1962Ile)
c.5776G>A (p.Val1926Ile)
c.5839G>A (p.Val1947Ile)
c.5809G>A (p.Val1937Ile)
c.5881G>A (p.Val1961Ile)
3g.38550435A>CCA352139394SCN5Ac.5934T>G (p.Ser1978Arg)
c.5937T>G (p.Ser1979Arg)
c.5883T>G (p.Ser1961Arg)
c.5775T>G (p.Ser1925Arg)
c.5838T>G (p.Ser1946Arg)
c.5808T>G (p.Ser1936Arg)
c.5880T>G (p.Ser1960Arg)
3g.38550435A>GCA433331421SCN5Ac.5934T>C (p.Ser1978=)
c.5937T>C (p.Ser1979=)
c.5883T>C (p.Ser1961=)
c.5775T>C (p.Ser1925=)
c.5838T>C (p.Ser1946=)
c.5808T>C (p.Ser1936=)
c.5880T>C (p.Ser1960=)
 gnomAD v4
3g.38550435A>TCA352139396SCN5Ac.5934T>A (p.Ser1978Arg)
c.5937T>A (p.Ser1979Arg)
c.5883T>A (p.Ser1961Arg)
c.5775T>A (p.Ser1925Arg)
c.5838T>A (p.Ser1946Arg)
c.5808T>A (p.Ser1936Arg)
c.5880T>A (p.Ser1960Arg)
3g.38550436C>ACA352139398SCN5Ac.5933G>T (p.Ser1978Ile)
c.5936G>T (p.Ser1979Ile)
c.5882G>T (p.Ser1961Ile)
c.5774G>T (p.Ser1925Ile)
c.5837G>T (p.Ser1946Ile)
c.5807G>T (p.Ser1936Ile)
c.5879G>T (p.Ser1960Ile)
 ClinVar gnomAD v4
3g.38550436C=CA1358555762SCN5Ac.5933G= (p.Ser1978=)
c.5936G= (p.Ser1979=)
c.5882G= (p.Ser1961=)
c.5774G= (p.Ser1925=)
c.5837G= (p.Ser1946=)
c.5807G= (p.Ser1936=)
c.5879G= (p.Ser1960=)
3g.38550436C>GCA352139400SCN5Ac.5933G>C (p.Ser1978Thr)
c.5936G>C (p.Ser1979Thr)
c.5882G>C (p.Ser1961Thr)
c.5774G>C (p.Ser1925Thr)
c.5837G>C (p.Ser1946Thr)
c.5807G>C (p.Ser1936Thr)
c.5879G>C (p.Ser1960Thr)
3g.38550436C>TCA352139401SCN5Ac.5933G>A (p.Ser1978Asn)
c.5936G>A (p.Ser1979Asn)
c.5882G>A (p.Ser1961Asn)
c.5774G>A (p.Ser1925Asn)
c.5837G>A (p.Ser1946Asn)
c.5807G>A (p.Ser1936Asn)
c.5879G>A (p.Ser1960Asn)
 dbSNP
3g.38550436_38550438delinsCTGCA1358555761SCN5Ac.5931_5933delinsCAG (p.Asp1977=)
c.5934_5936delinsCAG (p.Asp1978=)
c.5880_5882delinsCAG (p.Asp1960=)
c.5772_5774delinsCAG (p.Asp1924=)
c.5835_5837delinsCAG (p.Asp1945=)
c.5805_5807delinsCAG (p.Asp1935=)
c.5877_5879delinsCAG (p.Asp1959=)
3g.38550437T>ACA019547SCN5Ac.5932A>T (p.Ser1978Cys)
c.5935A>T (p.Ser1979Cys)
c.5881A>T (p.Ser1961Cys)
c.5773A>T (p.Ser1925Cys)
c.5836A>T (p.Ser1946Cys)
c.5806A>T (p.Ser1936Cys)
c.5878A>T (p.Ser1960Cys)
 ClinVar dbSNP
3g.38550437T>CCA352139405SCN5Ac.5932A>G (p.Ser1978Gly)
c.5935A>G (p.Ser1979Gly)
c.5881A>G (p.Ser1961Gly)
c.5773A>G (p.Ser1925Gly)
c.5836A>G (p.Ser1946Gly)
c.5806A>G (p.Ser1936Gly)
c.5878A>G (p.Ser1960Gly)
 ClinVar
3g.38550437T>GCA352139403SCN5Ac.5932A>C (p.Ser1978Arg)
c.5935A>C (p.Ser1979Arg)
c.5881A>C (p.Ser1961Arg)
c.5773A>C (p.Ser1925Arg)
c.5836A>C (p.Ser1946Arg)
c.5806A>C (p.Ser1936Arg)
c.5878A>C (p.Ser1960Arg)
3g.38550437T=CA1358555766SCN5Ac.5932A= (p.Ser1978=)
c.5935A= (p.Ser1979=)
c.5881A= (p.Ser1961=)
c.5773A= (p.Ser1925=)
c.5836A= (p.Ser1946=)
c.5806A= (p.Ser1936=)
c.5878A= (p.Ser1960=)
3g.38550438_38550439delCA906906287SCN5Ac.5931_5932del (p.Asp1977GlufsTer4)
c.5934_5935del (p.Asp1978GlufsTer4)
c.5880_5881del (p.Asp1960GlufsTer4)
c.5772_5773del (p.Asp1924GlufsTer4)
c.5835_5836del (p.Asp1945GlufsTer4)
c.5805_5806del (p.Asp1935GlufsTer4)
c.5877_5878del (p.Asp1959GlufsTer4)
 dbSNP gnomAD v3 gnomAD v4
3g.38550438G>ACA065017SCN5Ac.5931C>T (p.Asp1977=)
c.5934C>T (p.Asp1978=)
c.5880C>T (p.Asp1960=)
c.5772C>T (p.Asp1924=)
c.5835C>T (p.Asp1945=)
c.5805C>T (p.Asp1935=)
c.5877C>T (p.Asp1959=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38550438G>CCA352139407SCN5Ac.5931C>G (p.Asp1977Glu)
c.5934C>G (p.Asp1978Glu)
c.5880C>G (p.Asp1960Glu)
c.5772C>G (p.Asp1924Glu)
c.5835C>G (p.Asp1945Glu)
c.5805C>G (p.Asp1935Glu)
c.5877C>G (p.Asp1959Glu)
3g.38550438G=CA1358555771SCN5Ac.5931C= (p.Asp1977=)
c.5934C= (p.Asp1978=)
c.5880C= (p.Asp1960=)
c.5772C= (p.Asp1924=)
c.5835C= (p.Asp1945=)
c.5805C= (p.Asp1935=)
c.5877C= (p.Asp1959=)
3g.38550438G>TCA352139408SCN5Ac.5931C>A (p.Asp1977Glu)
c.5934C>A (p.Asp1978Glu)
c.5880C>A (p.Asp1960Glu)
c.5772C>A (p.Asp1924Glu)
c.5835C>A (p.Asp1945Glu)
c.5805C>A (p.Asp1935Glu)
c.5877C>A (p.Asp1959Glu)
3g.38550439T>ACA352139410SCN5Ac.5930A>T (p.Asp1977Val)
c.5933A>T (p.Asp1978Val)
c.5879A>T (p.Asp1960Val)
c.5771A>T (p.Asp1924Val)
c.5834A>T (p.Asp1945Val)
c.5804A>T (p.Asp1935Val)
c.5876A>T (p.Asp1959Val)
 ClinVar dbSNP
3g.38550439T>CCA352139411SCN5Ac.5930A>G (p.Asp1977Gly)
c.5933A>G (p.Asp1978Gly)
c.5879A>G (p.Asp1960Gly)
c.5771A>G (p.Asp1924Gly)
c.5834A>G (p.Asp1945Gly)
c.5804A>G (p.Asp1935Gly)
c.5876A>G (p.Asp1959Gly)
3g.38550439T>GCA352139412SCN5Ac.5930A>C (p.Asp1977Ala)
c.5933A>C (p.Asp1978Ala)
c.5879A>C (p.Asp1960Ala)
c.5771A>C (p.Asp1924Ala)
c.5834A>C (p.Asp1945Ala)
c.5804A>C (p.Asp1935Ala)
c.5876A>C (p.Asp1959Ala)
3g.38550439T=CA1358555773SCN5Ac.5930A= (p.Asp1977=)
c.5933A= (p.Asp1978=)
c.5879A= (p.Asp1960=)
c.5771A= (p.Asp1924=)
c.5834A= (p.Asp1945=)
c.5804A= (p.Asp1935=)
c.5876A= (p.Asp1959=)
3g.38550440C>ACA352139413SCN5Ac.5929G>T (p.Asp1977Tyr)
c.5932G>T (p.Asp1978Tyr)
c.5878G>T (p.Asp1960Tyr)
c.5770G>T (p.Asp1924Tyr)
c.5833G>T (p.Asp1945Tyr)
c.5803G>T (p.Asp1935Tyr)
c.5875G>T (p.Asp1959Tyr)
 gnomAD v4
3g.38550440C=CA1358555775SCN5Ac.5929G= (p.Asp1977=)
c.5932G= (p.Asp1978=)
c.5878G= (p.Asp1960=)
c.5770G= (p.Asp1924=)
c.5833G= (p.Asp1945=)
c.5803G= (p.Asp1935=)
c.5875G= (p.Asp1959=)
3g.38550440C>GCA065011SCN5Ac.5929G>C (p.Asp1977His)
c.5932G>C (p.Asp1978His)
c.5878G>C (p.Asp1960His)
c.5770G>C (p.Asp1924His)
c.5833G>C (p.Asp1945His)
c.5803G>C (p.Asp1935His)
c.5875G>C (p.Asp1959His)
 dbSNP ExAC gnomAD v4 COSMIC COSMIC COSMIC
3g.38550440C>TCA352139415SCN5Ac.5929G>A (p.Asp1977Asn)
c.5932G>A (p.Asp1978Asn)
c.5878G>A (p.Asp1960Asn)
c.5770G>A (p.Asp1924Asn)
c.5833G>A (p.Asp1945Asn)
c.5803G>A (p.Asp1935Asn)
c.5875G>A (p.Asp1959Asn)
 dbSNP
3g.38550441A>CCA352139418SCN5Ac.5928T>G (p.Tyr1976Ter)
c.5931T>G (p.Tyr1977Ter)
c.5877T>G (p.Tyr1959Ter)
c.5769T>G (p.Tyr1923Ter)
c.5832T>G (p.Tyr1944Ter)
c.5802T>G (p.Tyr1934Ter)
c.5874T>G (p.Tyr1958Ter)
3g.38550441A>GCA433331422SCN5Ac.5928T>C (p.Tyr1976=)
c.5931T>C (p.Tyr1977=)
c.5877T>C (p.Tyr1959=)
c.5769T>C (p.Tyr1923=)
c.5832T>C (p.Tyr1944=)
c.5802T>C (p.Tyr1934=)
c.5874T>C (p.Tyr1958=)
 gnomAD v4
3g.38550441A>TCA352139419SCN5Ac.5928T>A (p.Tyr1976Ter)
c.5931T>A (p.Tyr1977Ter)
c.5877T>A (p.Tyr1959Ter)
c.5769T>A (p.Tyr1923Ter)
c.5832T>A (p.Tyr1944Ter)
c.5802T>A (p.Tyr1934Ter)
c.5874T>A (p.Tyr1958Ter)
3g.38550442T>ACA352139421SCN5Ac.5927A>T (p.Tyr1976Phe)
c.5930A>T (p.Tyr1977Phe)
c.5876A>T (p.Tyr1959Phe)
c.5768A>T (p.Tyr1923Phe)
c.5831A>T (p.Tyr1944Phe)
c.5801A>T (p.Tyr1934Phe)
c.5873A>T (p.Tyr1958Phe)
3g.38550442T>CCA352139423SCN5Ac.5927A>G (p.Tyr1976Cys)
c.5930A>G (p.Tyr1977Cys)
c.5876A>G (p.Tyr1959Cys)
c.5768A>G (p.Tyr1923Cys)
c.5831A>G (p.Tyr1944Cys)
c.5801A>G (p.Tyr1934Cys)
c.5873A>G (p.Tyr1958Cys)
3g.38550442T>GCA352139425SCN5Ac.5927A>C (p.Tyr1976Ser)
c.5930A>C (p.Tyr1977Ser)
c.5876A>C (p.Tyr1959Ser)
c.5768A>C (p.Tyr1923Ser)
c.5831A>C (p.Tyr1944Ser)
c.5801A>C (p.Tyr1934Ser)
c.5873A>C (p.Tyr1958Ser)
3g.38550443A=CA1358555779SCN5Ac.5926T= (p.Tyr1976=)
c.5929T= (p.Tyr1977=)
c.5875T= (p.Tyr1959=)
c.5767T= (p.Tyr1923=)
c.5830T= (p.Tyr1944=)
c.5800T= (p.Tyr1934=)
c.5872T= (p.Tyr1958=)
3g.38550443A>CCA352139429SCN5Ac.5926T>G (p.Tyr1976Asp)
c.5929T>G (p.Tyr1977Asp)
c.5875T>G (p.Tyr1959Asp)
c.5767T>G (p.Tyr1923Asp)
c.5830T>G (p.Tyr1944Asp)
c.5800T>G (p.Tyr1934Asp)
c.5872T>G (p.Tyr1958Asp)
3g.38550443A>GCA352139427SCN5Ac.5926T>C (p.Tyr1976His)
c.5929T>C (p.Tyr1977His)
c.5875T>C (p.Tyr1959His)
c.5767T>C (p.Tyr1923His)
c.5830T>C (p.Tyr1944His)
c.5800T>C (p.Tyr1934His)
c.5872T>C (p.Tyr1958His)
3g.38550443A>TCA019544SCN5Ac.5926T>A (p.Tyr1976Asn)
c.5929T>A (p.Tyr1977Asn)
c.5875T>A (p.Tyr1959Asn)
c.5767T>A (p.Tyr1923Asn)
c.5830T>A (p.Tyr1944Asn)
c.5800T>A (p.Tyr1934Asn)
c.5872T>A (p.Tyr1958Asn)
 ClinVar dbSNP gnomAD v4
3g.38550444G>ACA433331423SCN5Ac.5925C>T (p.Ser1975=)
c.5928C>T (p.Ser1976=)
c.5874C>T (p.Ser1958=)
c.5766C>T (p.Ser1922=)
c.5829C>T (p.Ser1943=)
c.5799C>T (p.Ser1933=)
c.5871C>T (p.Ser1957=)
 ClinVar dbSNP
3g.38550444G>CCA433331425SCN5Ac.5925C>G (p.Ser1975=)
c.5928C>G (p.Ser1976=)
c.5874C>G (p.Ser1958=)
c.5766C>G (p.Ser1922=)
c.5829C>G (p.Ser1943=)
c.5799C>G (p.Ser1933=)
c.5871C>G (p.Ser1957=)
3g.38550444G=CA1358555784SCN5Ac.5925C= (p.Ser1975=)
c.5928C= (p.Ser1976=)
c.5874C= (p.Ser1958=)
c.5766C= (p.Ser1922=)
c.5829C= (p.Ser1943=)
c.5799C= (p.Ser1933=)
c.5871C= (p.Ser1957=)
3g.38550444G>TCA433331424SCN5Ac.5925C>A (p.Ser1975=)
c.5928C>A (p.Ser1976=)
c.5874C>A (p.Ser1958=)
c.5766C>A (p.Ser1922=)
c.5829C>A (p.Ser1943=)
c.5799C>A (p.Ser1933=)
c.5871C>A (p.Ser1957=)
 dbSNP
3g.38550445G>ACA352139431SCN5Ac.5924C>T (p.Ser1975Phe)
c.5927C>T (p.Ser1976Phe)
c.5873C>T (p.Ser1958Phe)
c.5765C>T (p.Ser1922Phe)
c.5828C>T (p.Ser1943Phe)
c.5798C>T (p.Ser1933Phe)
c.5870C>T (p.Ser1957Phe)
 dbSNP gnomAD v4
3g.38550445G>CCA352139432SCN5Ac.5924C>G (p.Ser1975Cys)
c.5927C>G (p.Ser1976Cys)
c.5873C>G (p.Ser1958Cys)
c.5765C>G (p.Ser1922Cys)
c.5828C>G (p.Ser1943Cys)
c.5798C>G (p.Ser1933Cys)
c.5870C>G (p.Ser1957Cys)
 dbSNP gnomAD v2 gnomAD v4
3g.38550445G=CA1358555787SCN5Ac.5924C= (p.Ser1975=)
c.5927C= (p.Ser1976=)
c.5873C= (p.Ser1958=)
c.5765C= (p.Ser1922=)
c.5828C= (p.Ser1943=)
c.5798C= (p.Ser1933=)
c.5870C= (p.Ser1957=)
3g.38550445G>TCA352139434SCN5Ac.5924C>A (p.Ser1975Tyr)
c.5927C>A (p.Ser1976Tyr)
c.5873C>A (p.Ser1958Tyr)
c.5765C>A (p.Ser1922Tyr)
c.5828C>A (p.Ser1943Tyr)
c.5798C>A (p.Ser1933Tyr)
c.5870C>A (p.Ser1957Tyr)
 dbSNP
3g.38550446A=CA1358555789SCN5Ac.5923T= (p.Ser1975=)
c.5926T= (p.Ser1976=)
c.5872T= (p.Ser1958=)
c.5764T= (p.Ser1922=)
c.5827T= (p.Ser1943=)
c.5797T= (p.Ser1933=)
c.5869T= (p.Ser1957=)
3g.38550446A>CCA352139436SCN5Ac.5923T>G (p.Ser1975Ala)
c.5926T>G (p.Ser1976Ala)
c.5872T>G (p.Ser1958Ala)
c.5764T>G (p.Ser1922Ala)
c.5827T>G (p.Ser1943Ala)
c.5797T>G (p.Ser1933Ala)
c.5869T>G (p.Ser1957Ala)
 ClinVar dbSNP
3g.38550446A>GCA352139438SCN5Ac.5923T>C (p.Ser1975Pro)
c.5926T>C (p.Ser1976Pro)
c.5872T>C (p.Ser1958Pro)
c.5764T>C (p.Ser1922Pro)
c.5827T>C (p.Ser1943Pro)
c.5797T>C (p.Ser1933Pro)
c.5869T>C (p.Ser1957Pro)
3g.38550446A>TCA352139439SCN5Ac.5923T>A (p.Ser1975Thr)
c.5926T>A (p.Ser1976Thr)
c.5872T>A (p.Ser1958Thr)
c.5764T>A (p.Ser1922Thr)
c.5827T>A (p.Ser1943Thr)
c.5797T>A (p.Ser1933Thr)
c.5869T>A (p.Ser1957Thr)
3g.38550447G>ACA433331426SCN5Ac.5922C>T (p.Pro1974=)
c.5925C>T (p.Pro1975=)
c.5871C>T (p.Pro1957=)
c.5763C>T (p.Pro1921=)
c.5826C>T (p.Pro1942=)
c.5796C>T (p.Pro1932=)
c.5868C>T (p.Pro1956=)
 ClinVar dbSNP gnomAD v4
3g.38550447G>CCA433331427SCN5Ac.5922C>G (p.Pro1974=)
c.5925C>G (p.Pro1975=)
c.5871C>G (p.Pro1957=)
c.5763C>G (p.Pro1921=)
c.5826C>G (p.Pro1942=)
c.5796C>G (p.Pro1932=)
c.5868C>G (p.Pro1956=)
3g.38550447G>TCA433331428SCN5Ac.5922C>A (p.Pro1974=)
c.5925C>A (p.Pro1975=)
c.5871C>A (p.Pro1957=)
c.5763C>A (p.Pro1921=)
c.5826C>A (p.Pro1942=)
c.5796C>A (p.Pro1932=)
c.5868C>A (p.Pro1956=)
3g.38550448G>ACA72937689SCN5Ac.5921C>T (p.Pro1974Leu)
c.5924C>T (p.Pro1975Leu)
c.5870C>T (p.Pro1957Leu)
c.5762C>T (p.Pro1921Leu)
c.5825C>T (p.Pro1942Leu)
c.5795C>T (p.Pro1932Leu)
c.5867C>T (p.Pro1956Leu)
 dbSNP
3g.38550448G>CCA352139442SCN5Ac.5921C>G (p.Pro1974Arg)
c.5924C>G (p.Pro1975Arg)
c.5870C>G (p.Pro1957Arg)
c.5762C>G (p.Pro1921Arg)
c.5825C>G (p.Pro1942Arg)
c.5795C>G (p.Pro1932Arg)
c.5867C>G (p.Pro1956Arg)
3g.38550448G=CA1358555792SCN5Ac.5921C= (p.Pro1974=)
c.5924C= (p.Pro1975=)
c.5870C= (p.Pro1957=)
c.5762C= (p.Pro1921=)
c.5825C= (p.Pro1942=)
c.5795C= (p.Pro1932=)
c.5867C= (p.Pro1956=)
3g.38550448G>TCA352139443SCN5Ac.5921C>A (p.Pro1974His)
c.5924C>A (p.Pro1975His)
c.5870C>A (p.Pro1957His)
c.5762C>A (p.Pro1921His)
c.5825C>A (p.Pro1942His)
c.5795C>A (p.Pro1932His)
c.5867C>A (p.Pro1956His)
3g.38550449G>ACA352139445SCN5Ac.5920C>T (p.Pro1974Ser)
c.5923C>T (p.Pro1975Ser)
c.5869C>T (p.Pro1957Ser)
c.5761C>T (p.Pro1921Ser)
c.5824C>T (p.Pro1942Ser)
c.5794C>T (p.Pro1932Ser)
c.5866C>T (p.Pro1956Ser)
 dbSNP
3g.38550449G>CCA352139447SCN5Ac.5920C>G (p.Pro1974Ala)
c.5923C>G (p.Pro1975Ala)
c.5869C>G (p.Pro1957Ala)
c.5761C>G (p.Pro1921Ala)
c.5824C>G (p.Pro1942Ala)
c.5794C>G (p.Pro1932Ala)
c.5866C>G (p.Pro1956Ala)
3g.38550449G=CA1358555794SCN5Ac.5920C= (p.Pro1974=)
c.5923C= (p.Pro1975=)
c.5869C= (p.Pro1957=)
c.5761C= (p.Pro1921=)
c.5824C= (p.Pro1942=)
c.5794C= (p.Pro1932=)
c.5866C= (p.Pro1956=)
3g.38550449G>TCA72937692SCN5Ac.5920C>A (p.Pro1974Thr)
c.5923C>A (p.Pro1975Thr)
c.5869C>A (p.Pro1957Thr)
c.5761C>A (p.Pro1921Thr)
c.5824C>A (p.Pro1942Thr)
c.5794C>A (p.Pro1932Thr)
c.5866C>A (p.Pro1956Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38550450T>ACA433331429SCN5Ac.5919A>T (p.Pro1973=)
c.5922A>T (p.Pro1974=)
c.5868A>T (p.Pro1956=)
c.5760A>T (p.Pro1920=)
c.5823A>T (p.Pro1941=)
c.5793A>T (p.Pro1931=)
c.5865A>T (p.Pro1955=)
3g.38550450T>CCA433331430SCN5Ac.5919A>G (p.Pro1973=)
c.5922A>G (p.Pro1974=)
c.5868A>G (p.Pro1956=)
c.5760A>G (p.Pro1920=)
c.5823A>G (p.Pro1941=)
c.5793A>G (p.Pro1931=)
c.5865A>G (p.Pro1955=)
 ClinVar
3g.38550450T>GCA433331431SCN5Ac.5919A>C (p.Pro1973=)
c.5922A>C (p.Pro1974=)
c.5868A>C (p.Pro1956=)
c.5760A>C (p.Pro1920=)
c.5823A>C (p.Pro1941=)
c.5793A>C (p.Pro1931=)
c.5865A>C (p.Pro1955=)
 dbSNP gnomAD v4
3g.38550450T=CA1358555796SCN5Ac.5919A= (p.Pro1973=)
c.5922A= (p.Pro1974=)
c.5868A= (p.Pro1956=)
c.5760A= (p.Pro1920=)
c.5823A= (p.Pro1941=)
c.5793A= (p.Pro1931=)
c.5865A= (p.Pro1955=)
3g.38550451G>ACA352139451SCN5Ac.5918C>T (p.Pro1973Leu)
c.5921C>T (p.Pro1974Leu)
c.5867C>T (p.Pro1956Leu)
c.5759C>T (p.Pro1920Leu)
c.5822C>T (p.Pro1941Leu)
c.5792C>T (p.Pro1931Leu)
c.5864C>T (p.Pro1955Leu)
3g.38550451G>CCA352139452SCN5Ac.5918C>G (p.Pro1973Arg)
c.5921C>G (p.Pro1974Arg)
c.5867C>G (p.Pro1956Arg)
c.5759C>G (p.Pro1920Arg)
c.5822C>G (p.Pro1941Arg)
c.5792C>G (p.Pro1931Arg)
c.5864C>G (p.Pro1955Arg)
3g.38550451G>TCA352139449SCN5Ac.5918C>A (p.Pro1973Gln)
c.5921C>A (p.Pro1974Gln)
c.5867C>A (p.Pro1956Gln)
c.5759C>A (p.Pro1920Gln)
c.5822C>A (p.Pro1941Gln)
c.5792C>A (p.Pro1931Gln)
c.5864C>A (p.Pro1955Gln)
3g.38550452G>ACA352139454SCN5Ac.5917C>T (p.Pro1973Ser)
c.5920C>T (p.Pro1974Ser)
c.5866C>T (p.Pro1956Ser)
c.5758C>T (p.Pro1920Ser)
c.5821C>T (p.Pro1941Ser)
c.5791C>T (p.Pro1931Ser)
c.5863C>T (p.Pro1955Ser)
 gnomAD v4
3g.38550452G>CCA352139457SCN5Ac.5917C>G (p.Pro1973Ala)
c.5920C>G (p.Pro1974Ala)
c.5866C>G (p.Pro1956Ala)
c.5758C>G (p.Pro1920Ala)
c.5821C>G (p.Pro1941Ala)
c.5791C>G (p.Pro1931Ala)
c.5863C>G (p.Pro1955Ala)
3g.38550452G>TCA352139455SCN5Ac.5917C>A (p.Pro1973Thr)
c.5920C>A (p.Pro1974Thr)
c.5866C>A (p.Pro1956Thr)
c.5758C>A (p.Pro1920Thr)
c.5821C>A (p.Pro1941Thr)
c.5791C>A (p.Pro1931Thr)
c.5863C>A (p.Pro1955Thr)
3g.38550457_38550460delCA2577552864SCN5Ac.5914_5917del (p.Phe1972HisfsTer?)
c.5917_5920del (p.Phe1973HisfsTer?)
c.5863_5866del (p.Phe1955HisfsTer?)
c.5755_5758del (p.Phe1919HisfsTer?)
c.5818_5821del (p.Phe1940HisfsTer?)
c.5788_5791del (p.Phe1930HisfsTer?)
c.5860_5863del (p.Phe1954HisfsTer?)
3g.38550453G>ACA433331432SCN5Ac.5916C>T (p.Phe1972=)
c.5919C>T (p.Phe1973=)
c.5865C>T (p.Phe1955=)
c.5757C>T (p.Phe1919=)
c.5820C>T (p.Phe1940=)
c.5790C>T (p.Phe1930=)
c.5862C>T (p.Phe1954=)
 dbSNP gnomAD v2 gnomAD v4
3g.38550453G>CCA352139459SCN5Ac.5916C>G (p.Phe1972Leu)
c.5919C>G (p.Phe1973Leu)
c.5865C>G (p.Phe1955Leu)
c.5757C>G (p.Phe1919Leu)
c.5820C>G (p.Phe1940Leu)
c.5790C>G (p.Phe1930Leu)
c.5862C>G (p.Phe1954Leu)
3g.38550453G=CA1358555798SCN5Ac.5916C= (p.Phe1972=)
c.5919C= (p.Phe1973=)
c.5865C= (p.Phe1955=)
c.5757C= (p.Phe1919=)
c.5820C= (p.Phe1940=)
c.5790C= (p.Phe1930=)
c.5862C= (p.Phe1954=)
3g.38550453G>TCA352139461SCN5Ac.5916C>A (p.Phe1972Leu)
c.5919C>A (p.Phe1973Leu)
c.5865C>A (p.Phe1955Leu)
c.5757C>A (p.Phe1919Leu)
c.5820C>A (p.Phe1940Leu)
c.5790C>A (p.Phe1930Leu)
c.5862C>A (p.Phe1954Leu)
3g.38550454A=CA1358555803SCN5Ac.5915T= (p.Phe1972=)
c.5918T= (p.Phe1973=)
c.5864T= (p.Phe1955=)
c.5756T= (p.Phe1919=)
c.5819T= (p.Phe1940=)
c.5789T= (p.Phe1930=)
c.5861T= (p.Phe1954=)
3g.38550454A>CCA352139463SCN5Ac.5915T>G (p.Phe1972Cys)
c.5918T>G (p.Phe1973Cys)
c.5864T>G (p.Phe1955Cys)
c.5756T>G (p.Phe1919Cys)
c.5819T>G (p.Phe1940Cys)
c.5789T>G (p.Phe1930Cys)
c.5861T>G (p.Phe1954Cys)
3g.38550454A>GCA16611366SCN5Ac.5915T>C (p.Phe1972Ser)
c.5918T>C (p.Phe1973Ser)
c.5864T>C (p.Phe1955Ser)
c.5756T>C (p.Phe1919Ser)
c.5819T>C (p.Phe1940Ser)
c.5789T>C (p.Phe1930Ser)
c.5861T>C (p.Phe1954Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38550454A>TCA352139465SCN5Ac.5915T>A (p.Phe1972Tyr)
c.5918T>A (p.Phe1973Tyr)
c.5864T>A (p.Phe1955Tyr)
c.5756T>A (p.Phe1919Tyr)
c.5819T>A (p.Phe1940Tyr)
c.5789T>A (p.Phe1930Tyr)
c.5861T>A (p.Phe1954Tyr)
3g.38550454_38550461dupCA916079908SCN5Ac.5908_5915dup (p.Phe1972LeufsTer?)
c.5911_5918dup (p.Phe1973LeufsTer?)
c.5857_5864dup (p.Phe1955LeufsTer?)
c.5749_5756dup (p.Phe1919LeufsTer?)
c.5812_5819dup (p.Phe1940LeufsTer?)
c.5782_5789dup (p.Phe1930LeufsTer?)
c.5854_5861dup (p.Phe1954LeufsTer?)
 ClinVar dbSNP
3g.38550455A=CA1358555808SCN5Ac.5914T= (p.Phe1972=)
c.5917T= (p.Phe1973=)
c.5863T= (p.Phe1955=)
c.5755T= (p.Phe1919=)
c.5818T= (p.Phe1940=)
c.5788T= (p.Phe1930=)
c.5860T= (p.Phe1954=)
3g.38550455A>CCA352139467SCN5Ac.5914T>G (p.Phe1972Val)
c.5917T>G (p.Phe1973Val)
c.5863T>G (p.Phe1955Val)
c.5755T>G (p.Phe1919Val)
c.5818T>G (p.Phe1940Val)
c.5788T>G (p.Phe1930Val)
c.5860T>G (p.Phe1954Val)
3g.38550455A>GCA065005SCN5Ac.5914T>C (p.Phe1972Leu)
c.5917T>C (p.Phe1973Leu)
c.5863T>C (p.Phe1955Leu)
c.5755T>C (p.Phe1919Leu)
c.5818T>C (p.Phe1940Leu)
c.5788T>C (p.Phe1930Leu)
c.5860T>C (p.Phe1954Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550455A>TCA352139469SCN5Ac.5914T>A (p.Phe1972Ile)
c.5917T>A (p.Phe1973Ile)
c.5863T>A (p.Phe1955Ile)
c.5755T>A (p.Phe1919Ile)
c.5818T>A (p.Phe1940Ile)
c.5788T>A (p.Phe1930Ile)
c.5860T>A (p.Phe1954Ile)
3g.38550459_38550467delCA2580069720SCN5Ac.5906_5914del (p.Ser1969_Ser1971del)
c.5909_5917del (p.Ser1970_Ser1972del)
c.5855_5863del (p.Ser1952_Ser1954del)
c.5747_5755del (p.Ser1916_Ser1918del)
c.5810_5818del (p.Ser1937_Ser1939del)
c.5780_5788del (p.Ser1927_Ser1929del)
c.5852_5860del (p.Ser1951_Ser1953del)
 ClinVar
3g.38550459_38550476dupCA2755900265SCN5Ac.5897_5914dup (p.Ser1971_Phe1972insSerIleSerSerThrSer)
c.5900_5917dup (p.Ser1972_Phe1973insSerIleSerSerThrSer)
c.5846_5863dup (p.Ser1954_Phe1955insSerIleSerSerThrSer)
c.5738_5755dup (p.Ser1918_Phe1919insSerIleSerSerThrSer)
c.5801_5818dup (p.Ser1939_Phe1940insSerIleSerSerThrSer)
c.5771_5788dup (p.Ser1929_Phe1930insSerIleSerSerThrSer)
c.5843_5860dup (p.Ser1953_Phe1954insSerIleSerSerThrSer)
3g.38550456G>ACA433331433SCN5Ac.5913C>T (p.Ser1971=)
c.5916C>T (p.Ser1972=)
c.5862C>T (p.Ser1954=)
c.5754C>T (p.Ser1918=)
c.5817C>T (p.Ser1939=)
c.5787C>T (p.Ser1929=)
c.5859C>T (p.Ser1953=)
 ClinVar
3g.38550456G>CCA433331435SCN5Ac.5913C>G (p.Ser1971=)
c.5916C>G (p.Ser1972=)
c.5862C>G (p.Ser1954=)
c.5754C>G (p.Ser1918=)
c.5817C>G (p.Ser1939=)
c.5787C>G (p.Ser1929=)
c.5859C>G (p.Ser1953=)
3g.38550456G>TCA433331434SCN5Ac.5913C>A (p.Ser1971=)
c.5916C>A (p.Ser1972=)
c.5862C>A (p.Ser1954=)
c.5754C>A (p.Ser1918=)
c.5817C>A (p.Ser1939=)
c.5787C>A (p.Ser1929=)
c.5859C>A (p.Ser1953=)
3g.38550457G>ACA352139471SCN5Ac.5912C>T (p.Ser1971Phe)
c.5915C>T (p.Ser1972Phe)
c.5861C>T (p.Ser1954Phe)
c.5753C>T (p.Ser1918Phe)
c.5816C>T (p.Ser1939Phe)
c.5786C>T (p.Ser1929Phe)
c.5858C>T (p.Ser1953Phe)
3g.38550457G>CCA352139472SCN5Ac.5912C>G (p.Ser1971Cys)
c.5915C>G (p.Ser1972Cys)
c.5861C>G (p.Ser1954Cys)
c.5753C>G (p.Ser1918Cys)
c.5816C>G (p.Ser1939Cys)
c.5786C>G (p.Ser1929Cys)
c.5858C>G (p.Ser1953Cys)
3g.38550457G>TCA352139474SCN5Ac.5912C>A (p.Ser1971Tyr)
c.5915C>A (p.Ser1972Tyr)
c.5861C>A (p.Ser1954Tyr)
c.5753C>A (p.Ser1918Tyr)
c.5816C>A (p.Ser1939Tyr)
c.5786C>A (p.Ser1929Tyr)
c.5858C>A (p.Ser1953Tyr)
3g.38550458A>CCA352139479SCN5Ac.5911T>G (p.Ser1971Ala)
c.5914T>G (p.Ser1972Ala)
c.5860T>G (p.Ser1954Ala)
c.5752T>G (p.Ser1918Ala)
c.5815T>G (p.Ser1939Ala)
c.5785T>G (p.Ser1929Ala)
c.5857T>G (p.Ser1953Ala)
 ClinVar
3g.38550458A>GCA352139475SCN5Ac.5911T>C (p.Ser1971Pro)
c.5914T>C (p.Ser1972Pro)
c.5860T>C (p.Ser1954Pro)
c.5752T>C (p.Ser1918Pro)
c.5815T>C (p.Ser1939Pro)
c.5785T>C (p.Ser1929Pro)
c.5857T>C (p.Ser1953Pro)
 ClinVar
3g.38550458A>TCA352139477SCN5Ac.5911T>A (p.Ser1971Thr)
c.5914T>A (p.Ser1972Thr)
c.5860T>A (p.Ser1954Thr)
c.5752T>A (p.Ser1918Thr)
c.5815T>A (p.Ser1939Thr)
c.5785T>A (p.Ser1929Thr)
c.5857T>A (p.Ser1953Thr)
3g.38550459A=CA1358555814SCN5Ac.5910T= (p.Thr1970=)
c.5913T= (p.Thr1971=)
c.5859T= (p.Thr1953=)
c.5751T= (p.Thr1917=)
c.5814T= (p.Thr1938=)
c.5784T= (p.Thr1928=)
c.5856T= (p.Thr1952=)
3g.38550459A>CCA72937695SCN5Ac.5910T>G (p.Thr1970=)
c.5913T>G (p.Thr1971=)
c.5859T>G (p.Thr1953=)
c.5751T>G (p.Thr1917=)
c.5814T>G (p.Thr1938=)
c.5784T>G (p.Thr1928=)
c.5856T>G (p.Thr1952=)
 dbSNP gnomAD v3 gnomAD v4
3g.38550459A>GCA16611271SCN5Ac.5910T>C (p.Thr1970=)
c.5913T>C (p.Thr1971=)
c.5859T>C (p.Thr1953=)
c.5751T>C (p.Thr1917=)
c.5814T>C (p.Thr1938=)
c.5784T>C (p.Thr1928=)
c.5856T>C (p.Thr1952=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38550459A>TCA433331436SCN5Ac.5910T>A (p.Thr1970=)
c.5913T>A (p.Thr1971=)
c.5859T>A (p.Thr1953=)
c.5751T>A (p.Thr1917=)
c.5814T>A (p.Thr1938=)
c.5784T>A (p.Thr1928=)
c.5856T>A (p.Thr1952=)
3g.38550459_38550468delinsAGTGGAGGAGCA1358555812SCN5Ac.5901_5910delinsCTCCTCCACT (p.Ile1967=)
c.5904_5913delinsCTCCTCCACT (p.Ile1968=)
c.5850_5859delinsCTCCTCCACT (p.Ile1950=)
c.5742_5751delinsCTCCTCCACT (p.Ile1914=)
c.5805_5814delinsCTCCTCCACT (p.Ile1935=)
c.5775_5784delinsCTCCTCCACT (p.Ile1925=)
c.5847_5856delinsCTCCTCCACT (p.Ile1949=)
3g.38550460G>ACA352139482SCN5Ac.5909C>T (p.Thr1970Ile)
c.5912C>T (p.Thr1971Ile)
c.5858C>T (p.Thr1953Ile)
c.5750C>T (p.Thr1917Ile)
c.5813C>T (p.Thr1938Ile)
c.5783C>T (p.Thr1928Ile)
c.5855C>T (p.Thr1952Ile)
 dbSNP gnomAD v4
3g.38550460G>CCA72937698SCN5Ac.5909C>G (p.Thr1970Ser)
c.5912C>G (p.Thr1971Ser)
c.5858C>G (p.Thr1953Ser)
c.5750C>G (p.Thr1917Ser)
c.5813C>G (p.Thr1938Ser)
c.5783C>G (p.Thr1928Ser)
c.5855C>G (p.Thr1952Ser)
 dbSNP gnomAD v4
3g.38550460G=CA1358555819SCN5Ac.5909C= (p.Thr1970=)
c.5912C= (p.Thr1971=)
c.5858C= (p.Thr1953=)
c.5750C= (p.Thr1917=)
c.5813C= (p.Thr1938=)
c.5783C= (p.Thr1928=)
c.5855C= (p.Thr1952=)
3g.38550460G>TCA352139485SCN5Ac.5909C>A (p.Thr1970Asn)
c.5912C>A (p.Thr1971Asn)
c.5858C>A (p.Thr1953Asn)
c.5750C>A (p.Thr1917Asn)
c.5813C>A (p.Thr1938Asn)
c.5783C>A (p.Thr1928Asn)
c.5855C>A (p.Thr1952Asn)
3g.38550460_38550468delCA064986SCN5Ac.5901_5909del (p.Ser1968_Thr1970del)
c.5904_5912del (p.Ser1969_Thr1971del)
c.5850_5858del (p.Ser1951_Thr1953del)
c.5742_5750del (p.Ser1915_Thr1917del)
c.5805_5813del (p.Ser1936_Thr1938del)
c.5775_5783del (p.Ser1926_Thr1928del)
c.5847_5855del (p.Ser1950_Thr1952del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550460_38550469delinsGTGGAGGAGACA1358555822SCN5Ac.5900_5909delinsTCTCCTCCAC (p.Ile1967=)
c.5903_5912delinsTCTCCTCCAC (p.Ile1968=)
c.5849_5858delinsTCTCCTCCAC (p.Ile1950=)
c.5741_5750delinsTCTCCTCCAC (p.Ile1914=)
c.5804_5813delinsTCTCCTCCAC (p.Ile1935=)
c.5774_5783delinsTCTCCTCCAC (p.Ile1925=)
c.5846_5855delinsTCTCCTCCAC (p.Ile1949=)
3g.38550461T>ACA352139488SCN5Ac.5908A>T (p.Thr1970Ser)
c.5911A>T (p.Thr1971Ser)
c.5857A>T (p.Thr1953Ser)
c.5749A>T (p.Thr1917Ser)
c.5812A>T (p.Thr1938Ser)
c.5782A>T (p.Thr1928Ser)
c.5854A>T (p.Thr1952Ser)
3g.38550461T>CCA352139489SCN5Ac.5908A>G (p.Thr1970Ala)
c.5911A>G (p.Thr1971Ala)
c.5857A>G (p.Thr1953Ala)
c.5749A>G (p.Thr1917Ala)
c.5812A>G (p.Thr1938Ala)
c.5782A>G (p.Thr1928Ala)
c.5854A>G (p.Thr1952Ala)
3g.38550461T>GCA352139491SCN5Ac.5908A>C (p.Thr1970Pro)
c.5911A>C (p.Thr1971Pro)
c.5857A>C (p.Thr1953Pro)
c.5749A>C (p.Thr1917Pro)
c.5812A>C (p.Thr1938Pro)
c.5782A>C (p.Thr1928Pro)
c.5854A>C (p.Thr1952Pro)
3g.38550469_38550477dupCA2499216736SCN5Ac.5900_5908dup (p.Ser1969_Thr1970insIleSerSer)
c.5903_5911dup (p.Ser1970_Thr1971insIleSerSer)
c.5849_5857dup (p.Ser1952_Thr1953insIleSerSer)
c.5741_5749dup (p.Ser1916_Thr1917insIleSerSer)
c.5804_5812dup (p.Ser1937_Thr1938insIleSerSer)
c.5774_5782dup (p.Ser1927_Thr1928insIleSerSer)
c.5846_5854dup (p.Ser1951_Thr1952insIleSerSer)
 ClinVar dbSNP
3g.38550469_38550477delCA906906409SCN5Ac.5900_5908del (p.Ile1967_Ser1969del)
c.5903_5911del (p.Ile1968_Ser1970del)
c.5849_5857del (p.Ile1950_Ser1952del)
c.5741_5749del (p.Ile1914_Ser1916del)
c.5804_5812del (p.Ile1935_Ser1937del)
c.5774_5782del (p.Ile1925_Ser1927del)
c.5846_5854del (p.Ile1949_Ser1951del)
 dbSNP
3g.38550462G>ACA433331437SCN5Ac.5907C>T (p.Ser1969=)
c.5910C>T (p.Ser1970=)
c.5856C>T (p.Ser1952=)
c.5748C>T (p.Ser1916=)
c.5811C>T (p.Ser1937=)
c.5781C>T (p.Ser1927=)
c.5853C>T (p.Ser1951=)
3g.38550462G>CCA433331438SCN5Ac.5907C>G (p.Ser1969=)
c.5910C>G (p.Ser1970=)
c.5856C>G (p.Ser1952=)
c.5748C>G (p.Ser1916=)
c.5811C>G (p.Ser1937=)
c.5781C>G (p.Ser1927=)
c.5853C>G (p.Ser1951=)
3g.38550462G>TCA433331439SCN5Ac.5907C>A (p.Ser1969=)
c.5910C>A (p.Ser1970=)
c.5856C>A (p.Ser1952=)
c.5748C>A (p.Ser1916=)
c.5811C>A (p.Ser1937=)
c.5781C>A (p.Ser1927=)
c.5853C>A (p.Ser1951=)
 ClinVar
3g.38550463G>ACA352139493SCN5Ac.5906C>T (p.Ser1969Phe)
c.5909C>T (p.Ser1970Phe)
c.5855C>T (p.Ser1952Phe)
c.5747C>T (p.Ser1916Phe)
c.5810C>T (p.Ser1937Phe)
c.5780C>T (p.Ser1927Phe)
c.5852C>T (p.Ser1951Phe)
 gnomAD v4
3g.38550463G>CCA352139494SCN5Ac.5906C>G (p.Ser1969Cys)
c.5909C>G (p.Ser1970Cys)
c.5855C>G (p.Ser1952Cys)
c.5747C>G (p.Ser1916Cys)
c.5810C>G (p.Ser1937Cys)
c.5780C>G (p.Ser1927Cys)
c.5852C>G (p.Ser1951Cys)
 dbSNP
3g.38550463G>TCA352139495SCN5Ac.5906C>A (p.Ser1969Tyr)
c.5909C>A (p.Ser1970Tyr)
c.5855C>A (p.Ser1952Tyr)
c.5747C>A (p.Ser1916Tyr)
c.5810C>A (p.Ser1937Tyr)
c.5780C>A (p.Ser1927Tyr)
c.5852C>A (p.Ser1951Tyr)
3g.38550464A=CA1358555829SCN5Ac.5905T= (p.Ser1969=)
c.5908T= (p.Ser1970=)
c.5854T= (p.Ser1952=)
c.5746T= (p.Ser1916=)
c.5809T= (p.Ser1937=)
c.5779T= (p.Ser1927=)
c.5851T= (p.Ser1951=)
3g.38550464A>CCA352139498SCN5Ac.5905T>G (p.Ser1969Ala)
c.5908T>G (p.Ser1970Ala)
c.5854T>G (p.Ser1952Ala)
c.5746T>G (p.Ser1916Ala)
c.5809T>G (p.Ser1937Ala)
c.5779T>G (p.Ser1927Ala)
c.5851T>G (p.Ser1951Ala)
3g.38550464A>GCA352139497SCN5Ac.5905T>C (p.Ser1969Pro)
c.5908T>C (p.Ser1970Pro)
c.5854T>C (p.Ser1952Pro)
c.5746T>C (p.Ser1916Pro)
c.5809T>C (p.Ser1937Pro)
c.5779T>C (p.Ser1927Pro)
c.5851T>C (p.Ser1951Pro)
 dbSNP gnomAD v2
3g.38550464A>TCA352139496SCN5Ac.5905T>A (p.Ser1969Thr)
c.5908T>A (p.Ser1970Thr)
c.5854T>A (p.Ser1952Thr)
c.5746T>A (p.Ser1916Thr)
c.5809T>A (p.Ser1937Thr)
c.5779T>A (p.Ser1927Thr)
c.5851T>A (p.Ser1951Thr)
3g.38550465G>ACA433331443SCN5Ac.5904C>T (p.Ser1968=)
c.5907C>T (p.Ser1969=)
c.5853C>T (p.Ser1951=)
c.5745C>T (p.Ser1915=)
c.5808C>T (p.Ser1936=)
c.5778C>T (p.Ser1926=)
c.5850C>T (p.Ser1950=)
3g.38550465G>CCA433331442SCN5Ac.5904C>G (p.Ser1968=)
c.5907C>G (p.Ser1969=)
c.5853C>G (p.Ser1951=)
c.5745C>G (p.Ser1915=)
c.5808C>G (p.Ser1936=)
c.5778C>G (p.Ser1926=)
c.5850C>G (p.Ser1950=)
3g.38550465G>TCA433331441SCN5Ac.5904C>A (p.Ser1968=)
c.5907C>A (p.Ser1969=)
c.5853C>A (p.Ser1951=)
c.5745C>A (p.Ser1915=)
c.5808C>A (p.Ser1936=)
c.5778C>A (p.Ser1926=)
c.5850C>A (p.Ser1950=)
3g.38550466G>ACA064997SCN5Ac.5903C>T (p.Ser1968Phe)
c.5906C>T (p.Ser1969Phe)
c.5852C>T (p.Ser1951Phe)
c.5744C>T (p.Ser1915Phe)
c.5807C>T (p.Ser1936Phe)
c.5777C>T (p.Ser1926Phe)
c.5849C>T (p.Ser1950Phe)
 ClinVar dbSNP ExAC
3g.38550466G>CCA352139500SCN5Ac.5903C>G (p.Ser1968Cys)
c.5906C>G (p.Ser1969Cys)
c.5852C>G (p.Ser1951Cys)
c.5744C>G (p.Ser1915Cys)
c.5807C>G (p.Ser1936Cys)
c.5777C>G (p.Ser1926Cys)
c.5849C>G (p.Ser1950Cys)
3g.38550466G=CA1358555832SCN5Ac.5903C= (p.Ser1968=)
c.5906C= (p.Ser1969=)
c.5852C= (p.Ser1951=)
c.5744C= (p.Ser1915=)
c.5807C= (p.Ser1936=)
c.5777C= (p.Ser1926=)
c.5849C= (p.Ser1950=)
3g.38550466G>TCA352139502SCN5Ac.5903C>A (p.Ser1968Tyr)
c.5906C>A (p.Ser1969Tyr)
c.5852C>A (p.Ser1951Tyr)
c.5744C>A (p.Ser1915Tyr)
c.5807C>A (p.Ser1936Tyr)
c.5777C>A (p.Ser1926Tyr)
c.5849C>A (p.Ser1950Tyr)
3g.38550467A>CCA352139504SCN5Ac.5902T>G (p.Ser1968Ala)
c.5905T>G (p.Ser1969Ala)
c.5851T>G (p.Ser1951Ala)
c.5743T>G (p.Ser1915Ala)
c.5806T>G (p.Ser1936Ala)
c.5776T>G (p.Ser1926Ala)
c.5848T>G (p.Ser1950Ala)
3g.38550467A>GCA352139505SCN5Ac.5902T>C (p.Ser1968Pro)
c.5905T>C (p.Ser1969Pro)
c.5851T>C (p.Ser1951Pro)
c.5743T>C (p.Ser1915Pro)
c.5806T>C (p.Ser1936Pro)
c.5776T>C (p.Ser1926Pro)
c.5848T>C (p.Ser1950Pro)
3g.38550467A>TCA352139507SCN5Ac.5902T>A (p.Ser1968Thr)
c.5905T>A (p.Ser1969Thr)
c.5851T>A (p.Ser1951Thr)
c.5743T>A (p.Ser1915Thr)
c.5806T>A (p.Ser1936Thr)
c.5776T>A (p.Ser1926Thr)
c.5848T>A (p.Ser1950Thr)
3g.38550468G>ACA433331444SCN5Ac.5901C>T (p.Ile1967=)
c.5904C>T (p.Ile1968=)
c.5850C>T (p.Ile1950=)
c.5742C>T (p.Ile1914=)
c.5805C>T (p.Ile1935=)
c.5775C>T (p.Ile1925=)
c.5847C>T (p.Ile1949=)
3g.38550468G>CCA019540SCN5Ac.5901C>G (p.Ile1967Met)
c.5904C>G (p.Ile1968Met)
c.5850C>G (p.Ile1950Met)
c.5742C>G (p.Ile1914Met)
c.5805C>G (p.Ile1935Met)
c.5775C>G (p.Ile1925Met)
c.5847C>G (p.Ile1949Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550468G=CA1358555834SCN5Ac.5901C= (p.Ile1967=)
c.5904C= (p.Ile1968=)
c.5850C= (p.Ile1950=)
c.5742C= (p.Ile1914=)
c.5805C= (p.Ile1935=)
c.5775C= (p.Ile1925=)
c.5847C= (p.Ile1949=)
3g.38550468G>TCA433331445SCN5Ac.5901C>A (p.Ile1967=)
c.5904C>A (p.Ile1968=)
c.5850C>A (p.Ile1950=)
c.5742C>A (p.Ile1914=)
c.5805C>A (p.Ile1935=)
c.5775C>A (p.Ile1925=)
c.5847C>A (p.Ile1949=)
3g.38550469A=CA1358555837SCN5Ac.5900T= (p.Ile1967=)
c.5903T= (p.Ile1968=)
c.5849T= (p.Ile1950=)
c.5741T= (p.Ile1914=)
c.5804T= (p.Ile1935=)
c.5774T= (p.Ile1925=)
c.5846T= (p.Ile1949=)
3g.38550469A>CCA019536SCN5Ac.5900T>G (p.Ile1967Ser)
c.5903T>G (p.Ile1968Ser)
c.5849T>G (p.Ile1950Ser)
c.5741T>G (p.Ile1914Ser)
c.5804T>G (p.Ile1935Ser)
c.5774T>G (p.Ile1925Ser)
c.5846T>G (p.Ile1949Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550469A>GCA72937706SCN5Ac.5900T>C (p.Ile1967Thr)
c.5903T>C (p.Ile1968Thr)
c.5849T>C (p.Ile1950Thr)
c.5741T>C (p.Ile1914Thr)
c.5804T>C (p.Ile1935Thr)
c.5774T>C (p.Ile1925Thr)
c.5846T>C (p.Ile1949Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38550469A>TCA064976SCN5Ac.5900T>A (p.Ile1967Asn)
c.5903T>A (p.Ile1968Asn)
c.5849T>A (p.Ile1950Asn)
c.5741T>A (p.Ile1914Asn)
c.5804T>A (p.Ile1935Asn)
c.5774T>A (p.Ile1925Asn)
c.5846T>A (p.Ile1949Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38550470T>ACA352139513SCN5Ac.5899A>T (p.Ile1967Phe)
c.5902A>T (p.Ile1968Phe)
c.5848A>T (p.Ile1950Phe)
c.5740A>T (p.Ile1914Phe)
c.5803A>T (p.Ile1935Phe)
c.5773A>T (p.Ile1925Phe)
c.5845A>T (p.Ile1949Phe)
3g.38550470T>CCA064971SCN5Ac.5899A>G (p.Ile1967Val)
c.5902A>G (p.Ile1968Val)
c.5848A>G (p.Ile1950Val)
c.5740A>G (p.Ile1914Val)
c.5803A>G (p.Ile1935Val)
c.5773A>G (p.Ile1925Val)
c.5845A>G (p.Ile1949Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38550470T>GCA352139514SCN5Ac.5899A>C (p.Ile1967Leu)
c.5902A>C (p.Ile1968Leu)
c.5848A>C (p.Ile1950Leu)
c.5740A>C (p.Ile1914Leu)
c.5803A>C (p.Ile1935Leu)
c.5773A>C (p.Ile1925Leu)
c.5845A>C (p.Ile1949Leu)
3g.38550470T=CA1358555842SCN5Ac.5899A= (p.Ile1967=)
c.5902A= (p.Ile1968=)
c.5848A= (p.Ile1950=)
c.5740A= (p.Ile1914=)
c.5803A= (p.Ile1935=)
c.5773A= (p.Ile1925=)
c.5845A= (p.Ile1949=)
3g.38550476_38550484delCA2580069722SCN5Ac.5891_5899del (p.Ser1964_Ser1966del)
c.5894_5902del (p.Ser1965_Ser1967del)
c.5840_5848del (p.Ser1947_Ser1949del)
c.5732_5740del (p.Ser1911_Ser1913del)
c.5795_5803del (p.Ser1932_Ser1934del)
c.5765_5773del (p.Ser1922_Ser1924del)
c.5837_5845del (p.Ser1946_Ser1948del)
 ClinVar
3g.38550471G>ACA433331448SCN5Ac.5898C>T (p.Ser1966=)
c.5901C>T (p.Ser1967=)
c.5847C>T (p.Ser1949=)
c.5739C>T (p.Ser1913=)
c.5802C>T (p.Ser1934=)
c.5772C>T (p.Ser1924=)
c.5844C>T (p.Ser1948=)
3g.38550471G>CCA433331449SCN5Ac.5898C>G (p.Ser1966=)
c.5901C>G (p.Ser1967=)
c.5847C>G (p.Ser1949=)
c.5739C>G (p.Ser1913=)
c.5802C>G (p.Ser1934=)
c.5772C>G (p.Ser1924=)
c.5844C>G (p.Ser1948=)
3g.38550471G>TCA433331450SCN5Ac.5898C>A (p.Ser1966=)
c.5901C>A (p.Ser1967=)
c.5847C>A (p.Ser1949=)
c.5739C>A (p.Ser1913=)
c.5802C>A (p.Ser1934=)
c.5772C>A (p.Ser1924=)
c.5844C>A (p.Ser1948=)
3g.38550472G>ACA352139515SCN5Ac.5897C>T (p.Ser1966Phe)
c.5900C>T (p.Ser1967Phe)
c.5846C>T (p.Ser1949Phe)
c.5738C>T (p.Ser1913Phe)
c.5801C>T (p.Ser1934Phe)
c.5771C>T (p.Ser1924Phe)
c.5843C>T (p.Ser1948Phe)
3g.38550472G>CCA352139518SCN5Ac.5897C>G (p.Ser1966Cys)
c.5900C>G (p.Ser1967Cys)
c.5846C>G (p.Ser1949Cys)
c.5738C>G (p.Ser1913Cys)
c.5801C>G (p.Ser1934Cys)
c.5771C>G (p.Ser1924Cys)
c.5843C>G (p.Ser1948Cys)
 ClinVar dbSNP
3g.38550472G>TCA352139516SCN5Ac.5897C>A (p.Ser1966Tyr)
c.5900C>A (p.Ser1967Tyr)
c.5846C>A (p.Ser1949Tyr)
c.5738C>A (p.Ser1913Tyr)
c.5801C>A (p.Ser1934Tyr)
c.5771C>A (p.Ser1924Tyr)
c.5843C>A (p.Ser1948Tyr)
3g.38550473delCA1139532803SCN5Ac.5896del (p.Ser1966ProfsTer?)
c.5899del (p.Ser1967ProfsTer?)
c.5845del (p.Ser1949ProfsTer?)
c.5737del (p.Ser1913ProfsTer?)
c.5800del (p.Ser1934ProfsTer?)
c.5770del (p.Ser1924ProfsTer?)
c.5842del (p.Ser1948ProfsTer?)
 ClinVar
3g.38550473A=CA1358555844SCN5Ac.5896T= (p.Ser1966=)
c.5899T= (p.Ser1967=)
c.5845T= (p.Ser1949=)
c.5737T= (p.Ser1913=)
c.5800T= (p.Ser1934=)
c.5770T= (p.Ser1924=)
c.5842T= (p.Ser1948=)
3g.38550473A>CCA352139520SCN5Ac.5896T>G (p.Ser1966Ala)
c.5899T>G (p.Ser1967Ala)
c.5845T>G (p.Ser1949Ala)
c.5737T>G (p.Ser1913Ala)
c.5800T>G (p.Ser1934Ala)
c.5770T>G (p.Ser1924Ala)
c.5842T>G (p.Ser1948Ala)
3g.38550473A>GCA352139523SCN5Ac.5896T>C (p.Ser1966Pro)
c.5899T>C (p.Ser1967Pro)
c.5845T>C (p.Ser1949Pro)
c.5737T>C (p.Ser1913Pro)
c.5800T>C (p.Ser1934Pro)
c.5770T>C (p.Ser1924Pro)
c.5842T>C (p.Ser1948Pro)
3g.38550473A>TCA352139524SCN5Ac.5896T>A (p.Ser1966Thr)
c.5899T>A (p.Ser1967Thr)
c.5845T>A (p.Ser1949Thr)
c.5737T>A (p.Ser1913Thr)
c.5800T>A (p.Ser1934Thr)
c.5770T>A (p.Ser1924Thr)
c.5842T>A (p.Ser1948Thr)
3g.38550474G>ACA433331451SCN5Ac.5895C>T (p.Ser1965=)
c.5898C>T (p.Ser1966=)
c.5844C>T (p.Ser1948=)
c.5736C>T (p.Ser1912=)
c.5799C>T (p.Ser1933=)
c.5769C>T (p.Ser1923=)
c.5841C>T (p.Ser1947=)
 gnomAD v4
3g.38550474G>CCA433331453SCN5Ac.5895C>G (p.Ser1965=)
c.5898C>G (p.Ser1966=)
c.5844C>G (p.Ser1948=)
c.5736C>G (p.Ser1912=)
c.5799C>G (p.Ser1933=)
c.5769C>G (p.Ser1923=)
c.5841C>G (p.Ser1947=)
 gnomAD v4
3g.38550474G>TCA433331455SCN5Ac.5895C>A (p.Ser1965=)
c.5898C>A (p.Ser1966=)
c.5844C>A (p.Ser1948=)
c.5736C>A (p.Ser1912=)
c.5799C>A (p.Ser1933=)
c.5769C>A (p.Ser1923=)
c.5841C>A (p.Ser1947=)
3g.38550475dupCA542615521SCN5Ac.5895dup (p.Ser1966LeufsTer12)
c.5898dup (p.Ser1967LeufsTer12)
c.5844dup (p.Ser1949LeufsTer12)
c.5736dup (p.Ser1913LeufsTer12)
c.5799dup (p.Ser1934LeufsTer12)
c.5769dup (p.Ser1924LeufsTer12)
c.5841dup (p.Ser1948LeufsTer12)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38550475G>ACA352139526SCN5Ac.5894C>T (p.Ser1965Phe)
c.5897C>T (p.Ser1966Phe)
c.5843C>T (p.Ser1948Phe)
c.5735C>T (p.Ser1912Phe)
c.5798C>T (p.Ser1933Phe)
c.5768C>T (p.Ser1923Phe)
c.5840C>T (p.Ser1947Phe)
3g.38550475G>CCA352139528SCN5Ac.5894C>G (p.Ser1965Cys)
c.5897C>G (p.Ser1966Cys)
c.5843C>G (p.Ser1948Cys)
c.5735C>G (p.Ser1912Cys)
c.5798C>G (p.Ser1933Cys)
c.5768C>G (p.Ser1923Cys)
c.5840C>G (p.Ser1947Cys)
 ClinVar dbSNP
3g.38550475G=CA1358555849SCN5Ac.5894C= (p.Ser1965=)
c.5897C= (p.Ser1966=)
c.5843C= (p.Ser1948=)
c.5735C= (p.Ser1912=)
c.5798C= (p.Ser1933=)
c.5768C= (p.Ser1923=)
c.5840C= (p.Ser1947=)
3g.38550475G>TCA352139529SCN5Ac.5894C>A (p.Ser1965Tyr)
c.5897C>A (p.Ser1966Tyr)
c.5843C>A (p.Ser1948Tyr)
c.5735C>A (p.Ser1912Tyr)
c.5798C>A (p.Ser1933Tyr)
c.5768C>A (p.Ser1923Tyr)
c.5840C>A (p.Ser1947Tyr)
 ClinVar dbSNP
3g.38550476A=CA1358555852SCN5Ac.5893T= (p.Ser1965=)
c.5896T= (p.Ser1966=)
c.5842T= (p.Ser1948=)
c.5734T= (p.Ser1912=)
c.5797T= (p.Ser1933=)
c.5767T= (p.Ser1923=)
c.5839T= (p.Ser1947=)
3g.38550476A>CCA352139532SCN5Ac.5893T>G (p.Ser1965Ala)
c.5896T>G (p.Ser1966Ala)
c.5842T>G (p.Ser1948Ala)
c.5734T>G (p.Ser1912Ala)
c.5797T>G (p.Ser1933Ala)
c.5767T>G (p.Ser1923Ala)
c.5839T>G (p.Ser1947Ala)
 ClinVar
3g.38550476A>GCA352139533SCN5Ac.5893T>C (p.Ser1965Pro)
c.5896T>C (p.Ser1966Pro)
c.5842T>C (p.Ser1948Pro)
c.5734T>C (p.Ser1912Pro)
c.5797T>C (p.Ser1933Pro)
c.5767T>C (p.Ser1923Pro)
c.5839T>C (p.Ser1947Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38550476A>TCA352139535SCN5Ac.5893T>A (p.Ser1965Thr)
c.5896T>A (p.Ser1966Thr)
c.5842T>A (p.Ser1948Thr)
c.5734T>A (p.Ser1912Thr)
c.5797T>A (p.Ser1933Thr)
c.5767T>A (p.Ser1923Thr)
c.5839T>A (p.Ser1947Thr)
3g.38550477G>ACA433331457SCN5Ac.5892C>T (p.Ser1964=)
c.5895C>T (p.Ser1965=)
c.5841C>T (p.Ser1947=)
c.5733C>T (p.Ser1911=)
c.5796C>T (p.Ser1932=)
c.5766C>T (p.Ser1922=)
c.5838C>T (p.Ser1946=)
 dbSNP gnomAD v4
3g.38550477G>CCA352139537SCN5Ac.5892C>G (p.Ser1964Arg)
c.5895C>G (p.Ser1965Arg)
c.5841C>G (p.Ser1947Arg)
c.5733C>G (p.Ser1911Arg)
c.5796C>G (p.Ser1932Arg)
c.5766C>G (p.Ser1922Arg)
c.5838C>G (p.Ser1946Arg)
 ClinVar
3g.38550477G=CA1358555855SCN5Ac.5892C= (p.Ser1964=)
c.5895C= (p.Ser1965=)
c.5841C= (p.Ser1947=)
c.5733C= (p.Ser1911=)
c.5796C= (p.Ser1932=)
c.5766C= (p.Ser1922=)
c.5838C= (p.Ser1946=)
3g.38550477G>TCA352139539SCN5Ac.5892C>A (p.Ser1964Arg)
c.5895C>A (p.Ser1965Arg)
c.5841C>A (p.Ser1947Arg)
c.5733C>A (p.Ser1911Arg)
c.5796C>A (p.Ser1932Arg)
c.5766C>A (p.Ser1922Arg)
c.5838C>A (p.Ser1946Arg)
3g.38550478C>ACA352139543SCN5Ac.5891G>T (p.Ser1964Ile)
c.5894G>T (p.Ser1965Ile)
c.5840G>T (p.Ser1947Ile)
c.5732G>T (p.Ser1911Ile)
c.5795G>T (p.Ser1932Ile)
c.5765G>T (p.Ser1922Ile)
c.5837G>T (p.Ser1946Ile)
 gnomAD v4
3g.38550478C=CA1358555857SCN5Ac.5891G= (p.Ser1964=)
c.5894G= (p.Ser1965=)
c.5840G= (p.Ser1947=)
c.5732G= (p.Ser1911=)
c.5795G= (p.Ser1932=)
c.5765G= (p.Ser1922=)
c.5837G= (p.Ser1946=)
3g.38550478C>GCA352139545SCN5Ac.5891G>C (p.Ser1964Thr)
c.5894G>C (p.Ser1965Thr)
c.5840G>C (p.Ser1947Thr)
c.5732G>C (p.Ser1911Thr)
c.5795G>C (p.Ser1932Thr)
c.5765G>C (p.Ser1922Thr)
c.5837G>C (p.Ser1946Thr)
3g.38550478C>TCA352139541SCN5Ac.5891G>A (p.Ser1964Asn)
c.5894G>A (p.Ser1965Asn)
c.5840G>A (p.Ser1947Asn)
c.5732G>A (p.Ser1911Asn)
c.5795G>A (p.Ser1932Asn)
c.5765G>A (p.Ser1922Asn)
c.5837G>A (p.Ser1946Asn)
 dbSNP gnomAD v2 gnomAD v4
3g.38550479T>ACA352139549SCN5Ac.5890A>T (p.Ser1964Cys)
c.5893A>T (p.Ser1965Cys)
c.5839A>T (p.Ser1947Cys)
c.5731A>T (p.Ser1911Cys)
c.5794A>T (p.Ser1932Cys)
c.5764A>T (p.Ser1922Cys)
c.5836A>T (p.Ser1946Cys)
3g.38550479T>CCA064965SCN5Ac.5890A>G (p.Ser1964Gly)
c.5893A>G (p.Ser1965Gly)
c.5839A>G (p.Ser1947Gly)
c.5731A>G (p.Ser1911Gly)
c.5794A>G (p.Ser1932Gly)
c.5764A>G (p.Ser1922Gly)
c.5836A>G (p.Ser1946Gly)
 dbSNP ExAC gnomAD v2
3g.38550479T>GCA352139548SCN5Ac.5890A>C (p.Ser1964Arg)
c.5893A>C (p.Ser1965Arg)
c.5839A>C (p.Ser1947Arg)
c.5731A>C (p.Ser1911Arg)
c.5794A>C (p.Ser1932Arg)
c.5764A>C (p.Ser1922Arg)
c.5836A>C (p.Ser1946Arg)
3g.38550479T=CA1358555860SCN5Ac.5890A= (p.Ser1964=)
c.5893A= (p.Ser1965=)
c.5839A= (p.Ser1947=)
c.5731A= (p.Ser1911=)
c.5794A= (p.Ser1932=)
c.5764A= (p.Ser1922=)
c.5836A= (p.Ser1946=)
3g.38550480G>ACA433331459SCN5Ac.5889C>T (p.Ser1963=)
c.5892C>T (p.Ser1964=)
c.5838C>T (p.Ser1946=)
c.5730C>T (p.Ser1910=)
c.5793C>T (p.Ser1931=)
c.5763C>T (p.Ser1921=)
c.5835C>T (p.Ser1945=)
 ClinVar
3g.38550480G>CCA433331461SCN5Ac.5889C>G (p.Ser1963=)
c.5892C>G (p.Ser1964=)
c.5838C>G (p.Ser1946=)
c.5730C>G (p.Ser1910=)
c.5793C>G (p.Ser1931=)
c.5763C>G (p.Ser1921=)
c.5835C>G (p.Ser1945=)
3g.38550480G>TCA433331462SCN5Ac.5889C>A (p.Ser1963=)
c.5892C>A (p.Ser1964=)
c.5838C>A (p.Ser1946=)
c.5730C>A (p.Ser1910=)
c.5793C>A (p.Ser1931=)
c.5763C>A (p.Ser1921=)
c.5835C>A (p.Ser1945=)
3g.38550481G>ACA019527SCN5Ac.5888C>T (p.Ser1963Phe)
c.5891C>T (p.Ser1964Phe)
c.5837C>T (p.Ser1946Phe)
c.5729C>T (p.Ser1910Phe)
c.5792C>T (p.Ser1931Phe)
c.5762C>T (p.Ser1921Phe)
c.5834C>T (p.Ser1945Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550481G>CCA352139552SCN5Ac.5888C>G (p.Ser1963Cys)
c.5891C>G (p.Ser1964Cys)
c.5837C>G (p.Ser1946Cys)
c.5729C>G (p.Ser1910Cys)
c.5792C>G (p.Ser1931Cys)
c.5762C>G (p.Ser1921Cys)
c.5834C>G (p.Ser1945Cys)
3g.38550481G=CA1358555864SCN5Ac.5888C= (p.Ser1963=)
c.5891C= (p.Ser1964=)
c.5837C= (p.Ser1946=)
c.5729C= (p.Ser1910=)
c.5792C= (p.Ser1931=)
c.5762C= (p.Ser1921=)
c.5834C= (p.Ser1945=)
3g.38550481G>TCA352139554SCN5Ac.5888C>A (p.Ser1963Tyr)
c.5891C>A (p.Ser1964Tyr)
c.5837C>A (p.Ser1946Tyr)
c.5729C>A (p.Ser1910Tyr)
c.5792C>A (p.Ser1931Tyr)
c.5762C>A (p.Ser1921Tyr)
c.5834C>A (p.Ser1945Tyr)
3g.38550482A>CCA352139559SCN5Ac.5887T>G (p.Ser1963Ala)
c.5890T>G (p.Ser1964Ala)
c.5836T>G (p.Ser1946Ala)
c.5728T>G (p.Ser1910Ala)
c.5791T>G (p.Ser1931Ala)
c.5761T>G (p.Ser1921Ala)
c.5833T>G (p.Ser1945Ala)
3g.38550482A>GCA352139558SCN5Ac.5887T>C (p.Ser1963Pro)
c.5890T>C (p.Ser1964Pro)
c.5836T>C (p.Ser1946Pro)
c.5728T>C (p.Ser1910Pro)
c.5791T>C (p.Ser1931Pro)
c.5761T>C (p.Ser1921Pro)
c.5833T>C (p.Ser1945Pro)
3g.38550482A>TCA352139556SCN5Ac.5887T>A (p.Ser1963Thr)
c.5890T>A (p.Ser1964Thr)
c.5836T>A (p.Ser1946Thr)
c.5728T>A (p.Ser1910Thr)
c.5791T>A (p.Ser1931Thr)
c.5761T>A (p.Ser1921Thr)
c.5833T>A (p.Ser1945Thr)
3g.38550483G>ACA72937720SCN5Ac.5886C>T (p.Pro1962=)
c.5889C>T (p.Pro1963=)
c.5835C>T (p.Pro1945=)
c.5727C>T (p.Pro1909=)
c.5790C>T (p.Pro1930=)
c.5760C>T (p.Pro1920=)
c.5832C>T (p.Pro1944=)
 ClinVar dbSNP
3g.38550483G>CCA433331465SCN5Ac.5886C>G (p.Pro1962=)
c.5889C>G (p.Pro1963=)
c.5835C>G (p.Pro1945=)
c.5727C>G (p.Pro1909=)
c.5790C>G (p.Pro1930=)
c.5760C>G (p.Pro1920=)
c.5832C>G (p.Pro1944=)
 ClinVar
3g.38550483G=CA1358555870SCN5Ac.5886C= (p.Pro1962=)
c.5889C= (p.Pro1963=)
c.5835C= (p.Pro1945=)
c.5727C= (p.Pro1909=)
c.5790C= (p.Pro1930=)
c.5760C= (p.Pro1920=)
c.5832C= (p.Pro1944=)
3g.38550483G>TCA433331466SCN5Ac.5886C>A (p.Pro1962=)
c.5889C>A (p.Pro1963=)
c.5835C>A (p.Pro1945=)
c.5727C>A (p.Pro1909=)
c.5790C>A (p.Pro1930=)
c.5760C>A (p.Pro1920=)
c.5832C>A (p.Pro1944=)
3g.38550484G>ACA064954SCN5Ac.5885C>T (p.Pro1962Leu)
c.5888C>T (p.Pro1963Leu)
c.5834C>T (p.Pro1945Leu)
c.5726C>T (p.Pro1909Leu)
c.5789C>T (p.Pro1930Leu)
c.5759C>T (p.Pro1920Leu)
c.5831C>T (p.Pro1944Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550484G>CCA352139562SCN5Ac.5885C>G (p.Pro1962Arg)
c.5888C>G (p.Pro1963Arg)
c.5834C>G (p.Pro1945Arg)
c.5726C>G (p.Pro1909Arg)
c.5789C>G (p.Pro1930Arg)
c.5759C>G (p.Pro1920Arg)
c.5831C>G (p.Pro1944Arg)
3g.38550484G=CA1358555875SCN5Ac.5885C= (p.Pro1962=)
c.5888C= (p.Pro1963=)
c.5834C= (p.Pro1945=)
c.5726C= (p.Pro1909=)
c.5789C= (p.Pro1930=)
c.5759C= (p.Pro1920=)
c.5831C= (p.Pro1944=)
3g.38550484G>TCA352139564SCN5Ac.5885C>A (p.Pro1962His)
c.5888C>A (p.Pro1963His)
c.5834C>A (p.Pro1945His)
c.5726C>A (p.Pro1909His)
c.5789C>A (p.Pro1930His)
c.5759C>A (p.Pro1920His)
c.5831C>A (p.Pro1944His)
 gnomAD v4
3g.38550485G>ACA352139566SCN5Ac.5884C>T (p.Pro1962Ser)
c.5887C>T (p.Pro1963Ser)
c.5833C>T (p.Pro1945Ser)
c.5725C>T (p.Pro1909Ser)
c.5788C>T (p.Pro1930Ser)
c.5758C>T (p.Pro1920Ser)
c.5830C>T (p.Pro1944Ser)
3g.38550485G>CCA352139568SCN5Ac.5884C>G (p.Pro1962Ala)
c.5887C>G (p.Pro1963Ala)
c.5833C>G (p.Pro1945Ala)
c.5725C>G (p.Pro1909Ala)
c.5788C>G (p.Pro1930Ala)
c.5758C>G (p.Pro1920Ala)
c.5830C>G (p.Pro1944Ala)
 gnomAD v4
3g.38550485G>TCA352139569SCN5Ac.5884C>A (p.Pro1962Thr)
c.5887C>A (p.Pro1963Thr)
c.5833C>A (p.Pro1945Thr)
c.5725C>A (p.Pro1909Thr)
c.5788C>A (p.Pro1930Thr)
c.5758C>A (p.Pro1920Thr)
c.5830C>A (p.Pro1944Thr)
3g.38550486T>ACA433331469SCN5Ac.5883A>T (p.Pro1961=)
c.5886A>T (p.Pro1962=)
c.5832A>T (p.Pro1944=)
c.5724A>T (p.Pro1908=)
c.5787A>T (p.Pro1929=)
c.5757A>T (p.Pro1919=)
c.5829A>T (p.Pro1943=)
3g.38550486T>CCA433331471SCN5Ac.5883A>G (p.Pro1961=)
c.5886A>G (p.Pro1962=)
c.5832A>G (p.Pro1944=)
c.5724A>G (p.Pro1908=)
c.5787A>G (p.Pro1929=)
c.5757A>G (p.Pro1919=)
c.5829A>G (p.Pro1943=)
 dbSNP gnomAD v2 gnomAD v4
3g.38550486T>GCA433331470SCN5Ac.5883A>C (p.Pro1961=)
c.5886A>C (p.Pro1962=)
c.5832A>C (p.Pro1944=)
c.5724A>C (p.Pro1908=)
c.5787A>C (p.Pro1929=)
c.5757A>C (p.Pro1919=)
c.5829A>C (p.Pro1943=)
 dbSNP
3g.38550486T=CA1358555878SCN5Ac.5883A= (p.Pro1961=)
c.5886A= (p.Pro1962=)
c.5832A= (p.Pro1944=)
c.5724A= (p.Pro1908=)
c.5787A= (p.Pro1929=)
c.5757A= (p.Pro1919=)
c.5829A= (p.Pro1943=)
3g.38550487G>ACA019523SCN5Ac.5882C>T (p.Pro1961Leu)
c.5885C>T (p.Pro1962Leu)
c.5831C>T (p.Pro1944Leu)
c.5723C>T (p.Pro1908Leu)
c.5786C>T (p.Pro1929Leu)
c.5756C>T (p.Pro1919Leu)
c.5828C>T (p.Pro1943Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550487G>CCA352139572SCN5Ac.5882C>G (p.Pro1961Arg)
c.5885C>G (p.Pro1962Arg)
c.5831C>G (p.Pro1944Arg)
c.5723C>G (p.Pro1908Arg)
c.5786C>G (p.Pro1929Arg)
c.5756C>G (p.Pro1919Arg)
c.5828C>G (p.Pro1943Arg)
3g.38550487G=CA1358555883SCN5Ac.5882C= (p.Pro1961=)
c.5885C= (p.Pro1962=)
c.5831C= (p.Pro1944=)
c.5723C= (p.Pro1908=)
c.5786C= (p.Pro1929=)
c.5756C= (p.Pro1919=)
c.5828C= (p.Pro1943=)
3g.38550487G>TCA352139574SCN5Ac.5882C>A (p.Pro1961Gln)
c.5885C>A (p.Pro1962Gln)
c.5831C>A (p.Pro1944Gln)
c.5723C>A (p.Pro1908Gln)
c.5786C>A (p.Pro1929Gln)
c.5756C>A (p.Pro1919Gln)
c.5828C>A (p.Pro1943Gln)
3g.38550488G>ACA352139575SCN5Ac.5881C>T (p.Pro1961Ser)
c.5884C>T (p.Pro1962Ser)
c.5830C>T (p.Pro1944Ser)
c.5722C>T (p.Pro1908Ser)
c.5785C>T (p.Pro1929Ser)
c.5755C>T (p.Pro1919Ser)
c.5827C>T (p.Pro1943Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38550488G>CCA352139576SCN5Ac.5881C>G (p.Pro1961Ala)
c.5884C>G (p.Pro1962Ala)
c.5830C>G (p.Pro1944Ala)
c.5722C>G (p.Pro1908Ala)
c.5785C>G (p.Pro1929Ala)
c.5755C>G (p.Pro1919Ala)
c.5827C>G (p.Pro1943Ala)
3g.38550488G=CA1358555887SCN5Ac.5881C= (p.Pro1961=)
c.5884C= (p.Pro1962=)
c.5830C= (p.Pro1944=)
c.5722C= (p.Pro1908=)
c.5785C= (p.Pro1929=)
c.5755C= (p.Pro1919=)
c.5827C= (p.Pro1943=)
3g.38550488G>TCA352139578SCN5Ac.5881C>A (p.Pro1961Thr)
c.5884C>A (p.Pro1962Thr)
c.5830C>A (p.Pro1944Thr)
c.5722C>A (p.Pro1908Thr)
c.5785C>A (p.Pro1929Thr)
c.5755C>A (p.Pro1919Thr)
c.5827C>A (p.Pro1943Thr)
3g.38550489G>ACA433331474SCN5Ac.5880C>T (p.Gly1960=)
c.5883C>T (p.Gly1961=)
c.5829C>T (p.Gly1943=)
c.5721C>T (p.Gly1907=)
c.5784C>T (p.Gly1928=)
c.5754C>T (p.Gly1918=)
c.5826C>T (p.Gly1942=)
 gnomAD v4 COSMIC COSMIC COSMIC
3g.38550489G>CCA433331475SCN5Ac.5880C>G (p.Gly1960=)
c.5883C>G (p.Gly1961=)
c.5829C>G (p.Gly1943=)
c.5721C>G (p.Gly1907=)
c.5784C>G (p.Gly1928=)
c.5754C>G (p.Gly1918=)
c.5826C>G (p.Gly1942=)
3g.38550489G>TCA433331476SCN5Ac.5880C>A (p.Gly1960=)
c.5883C>A (p.Gly1961=)
c.5829C>A (p.Gly1943=)
c.5721C>A (p.Gly1907=)
c.5784C>A (p.Gly1928=)
c.5754C>A (p.Gly1918=)
c.5826C>A (p.Gly1942=)
3g.38550490C>ACA352139579SCN5Ac.5879G>T (p.Gly1960Val)
c.5882G>T (p.Gly1961Val)
c.5828G>T (p.Gly1943Val)
c.5720G>T (p.Gly1907Val)
c.5783G>T (p.Gly1928Val)
c.5753G>T (p.Gly1918Val)
c.5825G>T (p.Gly1942Val)
 gnomAD v4
3g.38550490C>GCA352139581SCN5Ac.5879G>C (p.Gly1960Ala)
c.5882G>C (p.Gly1961Ala)
c.5828G>C (p.Gly1943Ala)
c.5720G>C (p.Gly1907Ala)
c.5783G>C (p.Gly1928Ala)
c.5753G>C (p.Gly1918Ala)
c.5825G>C (p.Gly1942Ala)
3g.38550490C>TCA352139583SCN5Ac.5879G>A (p.Gly1960Asp)
c.5882G>A (p.Gly1961Asp)
c.5828G>A (p.Gly1943Asp)
c.5720G>A (p.Gly1907Asp)
c.5783G>A (p.Gly1928Asp)
c.5753G>A (p.Gly1918Asp)
c.5825G>A (p.Gly1942Asp)
 ClinVar
3g.38550491C>ACA352139584SCN5Ac.5878G>T (p.Gly1960Cys)
c.5881G>T (p.Gly1961Cys)
c.5827G>T (p.Gly1943Cys)
c.5719G>T (p.Gly1907Cys)
c.5782G>T (p.Gly1928Cys)
c.5752G>T (p.Gly1918Cys)
c.5824G>T (p.Gly1942Cys)
3g.38550491C=CA1358555890SCN5Ac.5878G= (p.Gly1960=)
c.5881G= (p.Gly1961=)
c.5827G= (p.Gly1943=)
c.5719G= (p.Gly1907=)
c.5782G= (p.Gly1928=)
c.5752G= (p.Gly1918=)
c.5824G= (p.Gly1942=)
3g.38550491C>GCA352139586SCN5Ac.5878G>C (p.Gly1960Arg)
c.5881G>C (p.Gly1961Arg)
c.5827G>C (p.Gly1943Arg)
c.5719G>C (p.Gly1907Arg)
c.5782G>C (p.Gly1928Arg)
c.5752G>C (p.Gly1918Arg)
c.5824G>C (p.Gly1942Arg)
3g.38550491C>TCA352139587SCN5Ac.5878G>A (p.Gly1960Ser)
c.5881G>A (p.Gly1961Ser)
c.5827G>A (p.Gly1943Ser)
c.5719G>A (p.Gly1907Ser)
c.5782G>A (p.Gly1928Ser)
c.5752G>A (p.Gly1918Ser)
c.5824G>A (p.Gly1942Ser)
 dbSNP gnomAD v4
3g.38550492A>CCA433331480SCN5Ac.5877T>G (p.Leu1959=)
c.5880T>G (p.Leu1960=)
c.5826T>G (p.Leu1942=)
c.5718T>G (p.Leu1906=)
c.5781T>G (p.Leu1927=)
c.5751T>G (p.Leu1917=)
c.5823T>G (p.Leu1941=)
3g.38550492A>GCA433331481SCN5Ac.5877T>C (p.Leu1959=)
c.5880T>C (p.Leu1960=)
c.5826T>C (p.Leu1942=)
c.5718T>C (p.Leu1906=)
c.5781T>C (p.Leu1927=)
c.5751T>C (p.Leu1917=)
c.5823T>C (p.Leu1941=)
3g.38550492A>TCA433331482SCN5Ac.5877T>A (p.Leu1959=)
c.5880T>A (p.Leu1960=)
c.5826T>A (p.Leu1942=)
c.5718T>A (p.Leu1906=)
c.5781T>A (p.Leu1927=)
c.5751T>A (p.Leu1917=)
c.5823T>A (p.Leu1941=)
3g.38550493A>CCA352139590SCN5Ac.5876T>G (p.Leu1959Arg)
c.5879T>G (p.Leu1960Arg)
c.5825T>G (p.Leu1942Arg)
c.5717T>G (p.Leu1906Arg)
c.5780T>G (p.Leu1927Arg)
c.5750T>G (p.Leu1917Arg)
c.5822T>G (p.Leu1941Arg)
3g.38550493A>GCA352139591SCN5Ac.5876T>C (p.Leu1959Pro)
c.5879T>C (p.Leu1960Pro)
c.5825T>C (p.Leu1942Pro)
c.5717T>C (p.Leu1906Pro)
c.5780T>C (p.Leu1927Pro)
c.5750T>C (p.Leu1917Pro)
c.5822T>C (p.Leu1941Pro)
 gnomAD v4
3g.38550493A>TCA352139593SCN5Ac.5876T>A (p.Leu1959His)
c.5879T>A (p.Leu1960His)
c.5825T>A (p.Leu1942His)
c.5717T>A (p.Leu1906His)
c.5780T>A (p.Leu1927His)
c.5750T>A (p.Leu1917His)
c.5822T>A (p.Leu1941His)
3g.38550494G>ACA352139595SCN5Ac.5875C>T (p.Leu1959Phe)
c.5878C>T (p.Leu1960Phe)
c.5824C>T (p.Leu1942Phe)
c.5716C>T (p.Leu1906Phe)
c.5779C>T (p.Leu1927Phe)
c.5749C>T (p.Leu1917Phe)
c.5821C>T (p.Leu1941Phe)
 ClinVar dbSNP COSMIC COSMIC COSMIC
3g.38550494G>CCA352139599SCN5Ac.5875C>G (p.Leu1959Val)
c.5878C>G (p.Leu1960Val)
c.5824C>G (p.Leu1942Val)
c.5716C>G (p.Leu1906Val)
c.5779C>G (p.Leu1927Val)
c.5749C>G (p.Leu1917Val)
c.5821C>G (p.Leu1941Val)
3g.38550494G=CA1358555893SCN5Ac.5875C= (p.Leu1959=)
c.5878C= (p.Leu1960=)
c.5824C= (p.Leu1942=)
c.5716C= (p.Leu1906=)
c.5779C= (p.Leu1927=)
c.5749C= (p.Leu1917=)
c.5821C= (p.Leu1941=)
3g.38550494G>TCA352139597SCN5Ac.5875C>A (p.Leu1959Ile)
c.5878C>A (p.Leu1960Ile)
c.5824C>A (p.Leu1942Ile)
c.5716C>A (p.Leu1906Ile)
c.5779C>A (p.Leu1927Ile)
c.5749C>A (p.Leu1917Ile)
c.5821C>A (p.Leu1941Ile)
3g.38550495G>ACA433331484SCN5Ac.5874C>T (p.Pro1958=)
c.5877C>T (p.Pro1959=)
c.5823C>T (p.Pro1941=)
c.5715C>T (p.Pro1905=)
c.5778C>T (p.Pro1926=)
c.5748C>T (p.Pro1916=)
c.5820C>T (p.Pro1940=)
 ClinVar
3g.38550495G>CCA433331485SCN5Ac.5874C>G (p.Pro1958=)
c.5877C>G (p.Pro1959=)
c.5823C>G (p.Pro1941=)
c.5715C>G (p.Pro1905=)
c.5778C>G (p.Pro1926=)
c.5748C>G (p.Pro1916=)
c.5820C>G (p.Pro1940=)
3g.38550495G>TCA433331487SCN5Ac.5874C>A (p.Pro1958=)
c.5877C>A (p.Pro1959=)
c.5823C>A (p.Pro1941=)
c.5715C>A (p.Pro1905=)
c.5778C>A (p.Pro1926=)
c.5748C>A (p.Pro1916=)
c.5820C>A (p.Pro1940=)
3g.38550496G>ACA352139601SCN5Ac.5873C>T (p.Pro1958Leu)
c.5876C>T (p.Pro1959Leu)
c.5822C>T (p.Pro1941Leu)
c.5714C>T (p.Pro1905Leu)
c.5777C>T (p.Pro1926Leu)
c.5747C>T (p.Pro1916Leu)
c.5819C>T (p.Pro1940Leu)
3g.38550496G>CCA352139602SCN5Ac.5873C>G (p.Pro1958Arg)
c.5876C>G (p.Pro1959Arg)
c.5822C>G (p.Pro1941Arg)
c.5714C>G (p.Pro1905Arg)
c.5777C>G (p.Pro1926Arg)
c.5747C>G (p.Pro1916Arg)
c.5819C>G (p.Pro1940Arg)
 ClinVar
3g.38550496G>TCA352139605SCN5Ac.5873C>A (p.Pro1958His)
c.5876C>A (p.Pro1959His)
c.5822C>A (p.Pro1941His)
c.5714C>A (p.Pro1905His)
c.5777C>A (p.Pro1926His)
c.5747C>A (p.Pro1916His)
c.5819C>A (p.Pro1940His)
3g.38550497G>ACA352139607SCN5Ac.5872C>T (p.Pro1958Ser)
c.5875C>T (p.Pro1959Ser)
c.5821C>T (p.Pro1941Ser)
c.5713C>T (p.Pro1905Ser)
c.5776C>T (p.Pro1926Ser)
c.5746C>T (p.Pro1916Ser)
c.5818C>T (p.Pro1940Ser)
 dbSNP gnomAD v4
3g.38550497G>CCA352139609SCN5Ac.5872C>G (p.Pro1958Ala)
c.5875C>G (p.Pro1959Ala)
c.5821C>G (p.Pro1941Ala)
c.5713C>G (p.Pro1905Ala)
c.5776C>G (p.Pro1926Ala)
c.5746C>G (p.Pro1916Ala)
c.5818C>G (p.Pro1940Ala)
3g.38550497G>TCA352139610SCN5Ac.5872C>A (p.Pro1958Thr)
c.5875C>A (p.Pro1959Thr)
c.5821C>A (p.Pro1941Thr)
c.5713C>A (p.Pro1905Thr)
c.5776C>A (p.Pro1926Thr)
c.5746C>A (p.Pro1916Thr)
c.5818C>A (p.Pro1940Thr)
3g.38550498T>ACA433331488SCN5Ac.5871A>T (p.Arg1957=)
c.5874A>T (p.Arg1958=)
c.5820A>T (p.Arg1940=)
c.5712A>T (p.Arg1904=)
c.5775A>T (p.Arg1925=)
c.5745A>T (p.Arg1915=)
c.5817A>T (p.Arg1939=)
3g.38550498T>CCA433331492SCN5Ac.5871A>G (p.Arg1957=)
c.5874A>G (p.Arg1958=)
c.5820A>G (p.Arg1940=)
c.5712A>G (p.Arg1904=)
c.5775A>G (p.Arg1925=)
c.5745A>G (p.Arg1915=)
c.5817A>G (p.Arg1939=)
3g.38550498T>GCA433331490SCN5Ac.5871A>C (p.Arg1957=)
c.5874A>C (p.Arg1958=)
c.5820A>C (p.Arg1940=)
c.5712A>C (p.Arg1904=)
c.5775A>C (p.Arg1925=)
c.5745A>C (p.Arg1915=)
c.5817A>C (p.Arg1939=)
3g.38550499C>ACA352139611SCN5Ac.5870G>T (p.Arg1957Leu)
c.5873G>T (p.Arg1958Leu)
c.5819G>T (p.Arg1940Leu)
c.5711G>T (p.Arg1904Leu)
c.5774G>T (p.Arg1925Leu)
c.5744G>T (p.Arg1915Leu)
c.5816G>T (p.Arg1939Leu)
 ClinVar dbSNP gnomAD v4
3g.38550499C=CA1358555896SCN5Ac.5870G= (p.Arg1957=)
c.5873G= (p.Arg1958=)
c.5819G= (p.Arg1940=)
c.5711G= (p.Arg1904=)
c.5774G= (p.Arg1925=)
c.5744G= (p.Arg1915=)
c.5816G= (p.Arg1939=)
3g.38550499C>GCA352139613SCN5Ac.5870G>C (p.Arg1957Pro)
c.5873G>C (p.Arg1958Pro)
c.5819G>C (p.Arg1940Pro)
c.5711G>C (p.Arg1904Pro)
c.5774G>C (p.Arg1925Pro)
c.5744G>C (p.Arg1915Pro)
c.5816G>C (p.Arg1939Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38550499C>TCA019519SCN5Ac.5870G>A (p.Arg1957Gln)
c.5873G>A (p.Arg1958Gln)
c.5819G>A (p.Arg1940Gln)
c.5711G>A (p.Arg1904Gln)
c.5774G>A (p.Arg1925Gln)
c.5744G>A (p.Arg1915Gln)
c.5816G>A (p.Arg1939Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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)
 ClinVar 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)
 ClinVar
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=)

Number of alleles fetched