Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38550302_38550348delCA2697550799SCN5Ac.6026_*24del (n.[c.6026_*24del;Arg2009ThrfsTer29])
c.6029_*24del (n.[c.6029_*24del;Arg2010ThrfsTer29])
c.5975_*24del (n.[c.5975_*24del;Arg1992ThrfsTer29])
c.5867_*24del (n.[c.5867_*24del;Arg1956ThrfsTer29])
c.5930_*24del (n.[c.5930_*24del;Arg1977ThrfsTer29])
c.5900_*24del (n.[c.5900_*24del;Arg1967ThrfsTer29])
c.5972_*24del (n.[c.5972_*24del;Arg1991ThrfsTer29])
 ClinVar
3g.38550323A=CA1358561696SCN5Ac.6046T= (p.Ter2016=)
c.6049T= (p.Ter2017=)
c.5995T= (p.Ter1999=)
c.5887T= (p.Ter1963=)
c.5950T= (p.Ter1984=)
c.5920T= (p.Ter1974=)
c.5992T= (p.Ter1998=)
3g.38550323A>CCA352138959SCN5Ac.6046T>G (p.Ter2016Gly)
c.6049T>G (p.Ter2017Gly)
c.5995T>G (p.Ter1999Gly)
c.5887T>G (p.Ter1963Gly)
c.5950T>G (p.Ter1984Gly)
c.5920T>G (p.Ter1974Gly)
c.5992T>G (p.Ter1998Gly)
3g.38550323A>GCA352138961SCN5Ac.6046T>C (p.Ter2016Arg)
c.6049T>C (p.Ter2017Arg)
c.5995T>C (p.Ter1999Arg)
c.5887T>C (p.Ter1963Arg)
c.5950T>C (p.Ter1984Arg)
c.5920T>C (p.Ter1974Arg)
c.5992T>C (p.Ter1998Arg)
 dbSNP gnomAD v2 gnomAD v4
3g.38550323A>TCA352138963SCN5Ac.6046T>A (p.Ter2016Arg)
c.6049T>A (p.Ter2017Arg)
c.5995T>A (p.Ter1999Arg)
c.5887T>A (p.Ter1963Arg)
c.5950T>A (p.Ter1984Arg)
c.5920T>A (p.Ter1974Arg)
c.5992T>A (p.Ter1998Arg)
3g.38550324C>ACA433134115SCN5Ac.6045G>T (p.Val2015=)
c.6048G>T (p.Val2016=)
c.5994G>T (p.Val1998=)
c.5886G>T (p.Val1962=)
c.5949G>T (p.Val1983=)
c.5919G>T (p.Val1973=)
c.5991G>T (p.Val1997=)
3g.38550324C=CA1358561697SCN5Ac.6045G= (p.Val2015=)
c.6048G= (p.Val2016=)
c.5994G= (p.Val1998=)
c.5886G= (p.Val1962=)
c.5949G= (p.Val1983=)
c.5919G= (p.Val1973=)
c.5991G= (p.Val1997=)
3g.38550324C>GCA433134116SCN5Ac.6045G>C (p.Val2015=)
c.6048G>C (p.Val2016=)
c.5994G>C (p.Val1998=)
c.5886G>C (p.Val1962=)
c.5949G>C (p.Val1983=)
c.5919G>C (p.Val1973=)
c.5991G>C (p.Val1997=)
3g.38550324C>TCA16609848SCN5Ac.6045G>A (p.Val2015=)
c.6048G>A (p.Val2016=)
c.5994G>A (p.Val1998=)
c.5886G>A (p.Val1962=)
c.5949G>A (p.Val1983=)
c.5919G>A (p.Val1973=)
c.5991G>A (p.Val1997=)
 ClinVar dbSNP
3g.38550325A=CA1358561698SCN5Ac.6044T= (p.Val2015=)
c.6047T= (p.Val2016=)
c.5993T= (p.Val1998=)
c.5885T= (p.Val1962=)
c.5948T= (p.Val1983=)
c.5918T= (p.Val1973=)
c.5990T= (p.Val1997=)
3g.38550325A>CCA352138965SCN5Ac.6044T>G (p.Val2015Gly)
c.6047T>G (p.Val2016Gly)
c.5993T>G (p.Val1998Gly)
c.5885T>G (p.Val1962Gly)
c.5948T>G (p.Val1983Gly)
c.5918T>G (p.Val1973Gly)
c.5990T>G (p.Val1997Gly)
3g.38550325A>GCA352138967SCN5Ac.6044T>C (p.Val2015Ala)
c.6047T>C (p.Val2016Ala)
c.5993T>C (p.Val1998Ala)
c.5885T>C (p.Val1962Ala)
c.5948T>C (p.Val1983Ala)
c.5918T>C (p.Val1973Ala)
c.5990T>C (p.Val1997Ala)
 dbSNP gnomAD v3 gnomAD v4
3g.38550325A>TCA72937629SCN5Ac.6044T>A (p.Val2015Glu)
c.6047T>A (p.Val2016Glu)
c.5993T>A (p.Val1998Glu)
c.5885T>A (p.Val1962Glu)
c.5948T>A (p.Val1983Glu)
c.5918T>A (p.Val1973Glu)
c.5990T>A (p.Val1997Glu)
 ClinVar dbSNP gnomAD v4
3g.38550325dupCA2580069718SCN5Ac.6044dup (p.Ter2016ValextTer?)
c.6047dup (p.Ter2017ValextTer?)
c.5993dup (p.Ter1999ValextTer?)
c.5885dup (p.Ter1963ValextTer?)
c.5948dup (p.Ter1984ValextTer?)
c.5918dup (p.Ter1974ValextTer?)
c.5990dup (p.Ter1998ValextTer?)
 ClinVar
3g.38550326C>ACA352138970SCN5Ac.6043G>T (p.Val2015Leu)
c.6046G>T (p.Val2016Leu)
c.5992G>T (p.Val1998Leu)
c.5884G>T (p.Val1962Leu)
c.5947G>T (p.Val1983Leu)
c.5917G>T (p.Val1973Leu)
c.5989G>T (p.Val1997Leu)
 gnomAD v4
3g.38550326C=CA1358561699SCN5Ac.6043G= (p.Val2015=)
c.6046G= (p.Val2016=)
c.5992G= (p.Val1998=)
c.5884G= (p.Val1962=)
c.5947G= (p.Val1983=)
c.5917G= (p.Val1973=)
c.5989G= (p.Val1997=)
3g.38550326C>GCA352138971SCN5Ac.6043G>C (p.Val2015Leu)
c.6046G>C (p.Val2016Leu)
c.5992G>C (p.Val1998Leu)
c.5884G>C (p.Val1962Leu)
c.5947G>C (p.Val1983Leu)
c.5917G>C (p.Val1973Leu)
c.5989G>C (p.Val1997Leu)
 dbSNP gnomAD v2 gnomAD v4
3g.38550326C>TCA019615SCN5Ac.6043G>A (p.Val2015Met)
c.6046G>A (p.Val2016Met)
c.5992G>A (p.Val1998Met)
c.5884G>A (p.Val1962Met)
c.5947G>A (p.Val1983Met)
c.5917G>A (p.Val1973Met)
c.5989G>A (p.Val1997Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38550327G>ACA065247SCN5Ac.6042C>T (p.Ile2014=)
c.6045C>T (p.Ile2015=)
c.5991C>T (p.Ile1997=)
c.5883C>T (p.Ile1961=)
c.5946C>T (p.Ile1982=)
c.5916C>T (p.Ile1972=)
c.5988C>T (p.Ile1996=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
3g.38550327G>CCA352138975SCN5Ac.6042C>G (p.Ile2014Met)
c.6045C>G (p.Ile2015Met)
c.5991C>G (p.Ile1997Met)
c.5883C>G (p.Ile1961Met)
c.5946C>G (p.Ile1982Met)
c.5916C>G (p.Ile1972Met)
c.5988C>G (p.Ile1996Met)
 gnomAD v4
3g.38550327G=CA1358561700SCN5Ac.6042C= (p.Ile2014=)
c.6045C= (p.Ile2015=)
c.5991C= (p.Ile1997=)
c.5883C= (p.Ile1961=)
c.5946C= (p.Ile1982=)
c.5916C= (p.Ile1972=)
c.5988C= (p.Ile1996=)
3g.38550327G>TCA433134118SCN5Ac.6042C>A (p.Ile2014=)
c.6045C>A (p.Ile2015=)
c.5991C>A (p.Ile1997=)
c.5883C>A (p.Ile1961=)
c.5946C>A (p.Ile1982=)
c.5916C>A (p.Ile1972=)
c.5988C>A (p.Ile1996=)
3g.38550328A>CCA352138981SCN5Ac.6041T>G (p.Ile2014Ser)
c.6044T>G (p.Ile2015Ser)
c.5990T>G (p.Ile1997Ser)
c.5882T>G (p.Ile1961Ser)
c.5945T>G (p.Ile1982Ser)
c.5915T>G (p.Ile1972Ser)
c.5987T>G (p.Ile1996Ser)
3g.38550328A>GCA352138980SCN5Ac.6041T>C (p.Ile2014Thr)
c.6044T>C (p.Ile2015Thr)
c.5990T>C (p.Ile1997Thr)
c.5882T>C (p.Ile1961Thr)
c.5945T>C (p.Ile1982Thr)
c.5915T>C (p.Ile1972Thr)
c.5987T>C (p.Ile1996Thr)
 gnomAD v4
3g.38550328A>TCA352138978SCN5Ac.6041T>A (p.Ile2014Asn)
c.6044T>A (p.Ile2015Asn)
c.5990T>A (p.Ile1997Asn)
c.5882T>A (p.Ile1961Asn)
c.5945T>A (p.Ile1982Asn)
c.5915T>A (p.Ile1972Asn)
c.5987T>A (p.Ile1996Asn)
3g.38550329T>ACA352138983SCN5Ac.6040A>T (p.Ile2014Phe)
c.6043A>T (p.Ile2015Phe)
c.5989A>T (p.Ile1997Phe)
c.5881A>T (p.Ile1961Phe)
c.5944A>T (p.Ile1982Phe)
c.5914A>T (p.Ile1972Phe)
c.5986A>T (p.Ile1996Phe)
3g.38550329T>CCA352138984SCN5Ac.6040A>G (p.Ile2014Val)
c.6043A>G (p.Ile2015Val)
c.5989A>G (p.Ile1997Val)
c.5881A>G (p.Ile1961Val)
c.5944A>G (p.Ile1982Val)
c.5914A>G (p.Ile1972Val)
c.5986A>G (p.Ile1996Val)
3g.38550329T>GCA352138985SCN5Ac.6040A>C (p.Ile2014Leu)
c.6043A>C (p.Ile2015Leu)
c.5989A>C (p.Ile1997Leu)
c.5881A>C (p.Ile1961Leu)
c.5944A>C (p.Ile1982Leu)
c.5914A>C (p.Ile1972Leu)
c.5986A>C (p.Ile1996Leu)
3g.38550330G>ACA433134119SCN5Ac.6039C>T (p.Ser2013=)
c.6042C>T (p.Ser2014=)
c.5988C>T (p.Ser1996=)
c.5880C>T (p.Ser1960=)
c.5943C>T (p.Ser1981=)
c.5913C>T (p.Ser1971=)
c.5985C>T (p.Ser1995=)
 gnomAD v4
3g.38550330G>CCA433134122SCN5Ac.6039C>G (p.Ser2013=)
c.6042C>G (p.Ser2014=)
c.5988C>G (p.Ser1996=)
c.5880C>G (p.Ser1960=)
c.5943C>G (p.Ser1981=)
c.5913C>G (p.Ser1971=)
c.5985C>G (p.Ser1995=)
3g.38550330G>TCA433134121SCN5Ac.6039C>A (p.Ser2013=)
c.6042C>A (p.Ser2014=)
c.5988C>A (p.Ser1996=)
c.5880C>A (p.Ser1960=)
c.5943C>A (p.Ser1981=)
c.5913C>A (p.Ser1971=)
c.5985C>A (p.Ser1995=)
 gnomAD v4
3g.38550331G>ACA352138986SCN5Ac.6038C>T (p.Ser2013Phe)
c.6041C>T (p.Ser2014Phe)
c.5987C>T (p.Ser1996Phe)
c.5879C>T (p.Ser1960Phe)
c.5942C>T (p.Ser1981Phe)
c.5912C>T (p.Ser1971Phe)
c.5984C>T (p.Ser1995Phe)
3g.38550331G>CCA352138987SCN5Ac.6038C>G (p.Ser2013Cys)
c.6041C>G (p.Ser2014Cys)
c.5987C>G (p.Ser1996Cys)
c.5879C>G (p.Ser1960Cys)
c.5942C>G (p.Ser1981Cys)
c.5912C>G (p.Ser1971Cys)
c.5984C>G (p.Ser1995Cys)
 dbSNP gnomAD v2 gnomAD v4
3g.38550331G=CA1358561701SCN5Ac.6038C= (p.Ser2013=)
c.6041C= (p.Ser2014=)
c.5987C= (p.Ser1996=)
c.5879C= (p.Ser1960=)
c.5942C= (p.Ser1981=)
c.5912C= (p.Ser1971=)
c.5984C= (p.Ser1995=)
3g.38550331G>TCA352138989SCN5Ac.6038C>A (p.Ser2013Tyr)
c.6041C>A (p.Ser2014Tyr)
c.5987C>A (p.Ser1996Tyr)
c.5879C>A (p.Ser1960Tyr)
c.5942C>A (p.Ser1981Tyr)
c.5912C>A (p.Ser1971Tyr)
c.5984C>A (p.Ser1995Tyr)
 gnomAD v4
3g.38550332A>CCA352138994SCN5Ac.6037T>G (p.Ser2013Ala)
c.6040T>G (p.Ser2014Ala)
c.5986T>G (p.Ser1996Ala)
c.5878T>G (p.Ser1960Ala)
c.5941T>G (p.Ser1981Ala)
c.5911T>G (p.Ser1971Ala)
c.5983T>G (p.Ser1995Ala)
3g.38550332A>GCA352138990SCN5Ac.6037T>C (p.Ser2013Pro)
c.6040T>C (p.Ser2014Pro)
c.5986T>C (p.Ser1996Pro)
c.5878T>C (p.Ser1960Pro)
c.5941T>C (p.Ser1981Pro)
c.5911T>C (p.Ser1971Pro)
c.5983T>C (p.Ser1995Pro)
3g.38550332A>TCA352138992SCN5Ac.6037T>A (p.Ser2013Thr)
c.6040T>A (p.Ser2014Thr)
c.5986T>A (p.Ser1996Thr)
c.5878T>A (p.Ser1960Thr)
c.5941T>A (p.Ser1981Thr)
c.5911T>A (p.Ser1971Thr)
c.5983T>A (p.Ser1995Thr)
 gnomAD v4
3g.38550333C>ACA352138995SCN5Ac.6036G>T (p.Glu2012Asp)
c.6039G>T (p.Glu2013Asp)
c.5985G>T (p.Glu1995Asp)
c.5877G>T (p.Glu1959Asp)
c.5940G>T (p.Glu1980Asp)
c.5910G>T (p.Glu1970Asp)
c.5982G>T (p.Glu1994Asp)
 dbSNP gnomAD v2
3g.38550333C=CA1358561702SCN5Ac.6036G= (p.Glu2012=)
c.6039G= (p.Glu2013=)
c.5985G= (p.Glu1995=)
c.5877G= (p.Glu1959=)
c.5940G= (p.Glu1980=)
c.5910G= (p.Glu1970=)
c.5982G= (p.Glu1994=)
3g.38550333C>GCA352138996SCN5Ac.6036G>C (p.Glu2012Asp)
c.6039G>C (p.Glu2013Asp)
c.5985G>C (p.Glu1995Asp)
c.5877G>C (p.Glu1959Asp)
c.5940G>C (p.Glu1980Asp)
c.5910G>C (p.Glu1970Asp)
c.5982G>C (p.Glu1994Asp)
3g.38550333C>TCA433134127SCN5Ac.6036G>A (p.Glu2012=)
c.6039G>A (p.Glu2013=)
c.5985G>A (p.Glu1995=)
c.5877G>A (p.Glu1959=)
c.5940G>A (p.Glu1980=)
c.5910G>A (p.Glu1970=)
c.5982G>A (p.Glu1994=)
3g.38550334T>ACA352138999SCN5Ac.6035A>T (p.Glu2012Val)
c.6038A>T (p.Glu2013Val)
c.5984A>T (p.Glu1995Val)
c.5876A>T (p.Glu1959Val)
c.5939A>T (p.Glu1980Val)
c.5909A>T (p.Glu1970Val)
c.5981A>T (p.Glu1994Val)
3g.38550334T>CCA352139000SCN5Ac.6035A>G (p.Glu2012Gly)
c.6038A>G (p.Glu2013Gly)
c.5984A>G (p.Glu1995Gly)
c.5876A>G (p.Glu1959Gly)
c.5939A>G (p.Glu1980Gly)
c.5909A>G (p.Glu1970Gly)
c.5981A>G (p.Glu1994Gly)
 ClinVar dbSNP gnomAD v4
3g.38550334T>GCA352139001SCN5Ac.6035A>C (p.Glu2012Ala)
c.6038A>C (p.Glu2013Ala)
c.5984A>C (p.Glu1995Ala)
c.5876A>C (p.Glu1959Ala)
c.5939A>C (p.Glu1980Ala)
c.5909A>C (p.Glu1970Ala)
c.5981A>C (p.Glu1994Ala)
3g.38550334T=CA1358561703SCN5Ac.6035A= (p.Glu2012=)
c.6038A= (p.Glu2013=)
c.5984A= (p.Glu1995=)
c.5876A= (p.Glu1959=)
c.5939A= (p.Glu1980=)
c.5909A= (p.Glu1970=)
c.5981A= (p.Glu1994=)
3g.38550335C>ACA352139004SCN5Ac.6034G>T (p.Glu2012Ter)
c.6037G>T (p.Glu2013Ter)
c.5983G>T (p.Glu1995Ter)
c.5875G>T (p.Glu1959Ter)
c.5938G>T (p.Glu1980Ter)
c.5908G>T (p.Glu1970Ter)
c.5980G>T (p.Glu1994Ter)
 dbSNP gnomAD v4
3g.38550335C=CA1358561704SCN5Ac.6034G= (p.Glu2012=)
c.6037G= (p.Glu2013=)
c.5983G= (p.Glu1995=)
c.5875G= (p.Glu1959=)
c.5938G= (p.Glu1980=)
c.5908G= (p.Glu1970=)
c.5980G= (p.Glu1994=)
3g.38550335C>GCA352139006SCN5Ac.6034G>C (p.Glu2012Gln)
c.6037G>C (p.Glu2013Gln)
c.5983G>C (p.Glu1995Gln)
c.5875G>C (p.Glu1959Gln)
c.5938G>C (p.Glu1980Gln)
c.5908G>C (p.Glu1970Gln)
c.5980G>C (p.Glu1994Gln)
3g.38550335C>TCA352139005SCN5Ac.6034G>A (p.Glu2012Lys)
c.6037G>A (p.Glu2013Lys)
c.5983G>A (p.Glu1995Lys)
c.5875G>A (p.Glu1959Lys)
c.5938G>A (p.Glu1980Lys)
c.5908G>A (p.Glu1970Lys)
c.5980G>A (p.Glu1994Lys)
3g.38550336A>CCA433134129SCN5Ac.6033T>G (p.Arg2011=)
c.6036T>G (p.Arg2012=)
c.5982T>G (p.Arg1994=)
c.5874T>G (p.Arg1958=)
c.5937T>G (p.Arg1979=)
c.5907T>G (p.Arg1969=)
c.5979T>G (p.Arg1993=)
3g.38550336A>GCA433134131SCN5Ac.6033T>C (p.Arg2011=)
c.6036T>C (p.Arg2012=)
c.5982T>C (p.Arg1994=)
c.5874T>C (p.Arg1958=)
c.5937T>C (p.Arg1979=)
c.5907T>C (p.Arg1969=)
c.5979T>C (p.Arg1993=)
 dbSNP
3g.38550336A>TCA433134132SCN5Ac.6033T>A (p.Arg2011=)
c.6036T>A (p.Arg2012=)
c.5982T>A (p.Arg1994=)
c.5874T>A (p.Arg1958=)
c.5937T>A (p.Arg1979=)
c.5907T>A (p.Arg1969=)
c.5979T>A (p.Arg1993=)
3g.38550336dupCA542269464SCN5Ac.6033dup (p.Glu2012Ter)
c.6036dup (p.Glu2013Ter)
c.5982dup (p.Glu1995Ter)
c.5874dup (p.Glu1959Ter)
c.5937dup (p.Glu1980Ter)
c.5907dup (p.Glu1970Ter)
c.5979dup (p.Glu1994Ter)
 dbSNP gnomAD v2 gnomAD v4
3g.38550337C>ACA352139008SCN5Ac.6032G>T (p.Arg2011Leu)
c.6035G>T (p.Arg2012Leu)
c.5981G>T (p.Arg1994Leu)
c.5873G>T (p.Arg1958Leu)
c.5936G>T (p.Arg1979Leu)
c.5906G>T (p.Arg1969Leu)
c.5978G>T (p.Arg1993Leu)
3g.38550337C=CA1358561705SCN5Ac.6032G= (p.Arg2011=)
c.6035G= (p.Arg2012=)
c.5981G= (p.Arg1994=)
c.5873G= (p.Arg1958=)
c.5936G= (p.Arg1979=)
c.5906G= (p.Arg1969=)
c.5978G= (p.Arg1993=)
3g.38550337C>GCA352139010SCN5Ac.6032G>C (p.Arg2011Pro)
c.6035G>C (p.Arg2012Pro)
c.5981G>C (p.Arg1994Pro)
c.5873G>C (p.Arg1958Pro)
c.5936G>C (p.Arg1979Pro)
c.5906G>C (p.Arg1969Pro)
c.5978G>C (p.Arg1993Pro)
3g.38550337C>TCA065243SCN5Ac.6032G>A (p.Arg2011His)
c.6035G>A (p.Arg2012His)
c.5981G>A (p.Arg1994His)
c.5873G>A (p.Arg1958His)
c.5936G>A (p.Arg1979His)
c.5906G>A (p.Arg1969His)
c.5978G>A (p.Arg1993His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550338G>ACA019612SCN5Ac.6031C>T (p.Arg2011Cys)
c.6034C>T (p.Arg2012Cys)
c.5980C>T (p.Arg1994Cys)
c.5872C>T (p.Arg1958Cys)
c.5935C>T (p.Arg1979Cys)
c.5905C>T (p.Arg1969Cys)
c.5977C>T (p.Arg1993Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550338G>CCA352139015SCN5Ac.6031C>G (p.Arg2011Gly)
c.6034C>G (p.Arg2012Gly)
c.5980C>G (p.Arg1994Gly)
c.5872C>G (p.Arg1958Gly)
c.5935C>G (p.Arg1979Gly)
c.5905C>G (p.Arg1969Gly)
c.5977C>G (p.Arg1993Gly)
3g.38550338G=CA1358561706SCN5Ac.6031C= (p.Arg2011=)
c.6034C= (p.Arg2012=)
c.5980C= (p.Arg1994=)
c.5872C= (p.Arg1958=)
c.5935C= (p.Arg1979=)
c.5905C= (p.Arg1969=)
c.5977C= (p.Arg1993=)
3g.38550338G>TCA352139016SCN5Ac.6031C>A (p.Arg2011Ser)
c.6034C>A (p.Arg2012Ser)
c.5980C>A (p.Arg1994Ser)
c.5872C>A (p.Arg1958Ser)
c.5935C>A (p.Arg1979Ser)
c.5905C>A (p.Arg1969Ser)
c.5977C>A (p.Arg1993Ser)
 gnomAD v4
3g.38550339G>ACA433134133SCN5Ac.6030C>T (p.Asp2010=)
c.6033C>T (p.Asp2011=)
c.5979C>T (p.Asp1993=)
c.5871C>T (p.Asp1957=)
c.5934C>T (p.Asp1978=)
c.5904C>T (p.Asp1968=)
c.5976C>T (p.Asp1992=)
 gnomAD v4
3g.38550339G>CCA352139019SCN5Ac.6030C>G (p.Asp2010Glu)
c.6033C>G (p.Asp2011Glu)
c.5979C>G (p.Asp1993Glu)
c.5871C>G (p.Asp1957Glu)
c.5934C>G (p.Asp1978Glu)
c.5904C>G (p.Asp1968Glu)
c.5976C>G (p.Asp1992Glu)
3g.38550339G=CA1358561707SCN5Ac.6030C= (p.Asp2010=)
c.6033C= (p.Asp2011=)
c.5979C= (p.Asp1993=)
c.5871C= (p.Asp1957=)
c.5934C= (p.Asp1978=)
c.5904C= (p.Asp1968=)
c.5976C= (p.Asp1992=)
3g.38550339G>TCA10618690SCN5Ac.6030C>A (p.Asp2010Glu)
c.6033C>A (p.Asp2011Glu)
c.5979C>A (p.Asp1993Glu)
c.5871C>A (p.Asp1957Glu)
c.5934C>A (p.Asp1978Glu)
c.5904C>A (p.Asp1968Glu)
c.5976C>A (p.Asp1992Glu)
 ClinVar dbSNP
3g.38550340T>ACA352139022SCN5Ac.6029A>T (p.Asp2010Val)
c.6032A>T (p.Asp2011Val)
c.5978A>T (p.Asp1993Val)
c.5870A>T (p.Asp1957Val)
c.5933A>T (p.Asp1978Val)
c.5903A>T (p.Asp1968Val)
c.5975A>T (p.Asp1992Val)
3g.38550340T>CCA352139024SCN5Ac.6029A>G (p.Asp2010Gly)
c.6032A>G (p.Asp2011Gly)
c.5978A>G (p.Asp1993Gly)
c.5870A>G (p.Asp1957Gly)
c.5933A>G (p.Asp1978Gly)
c.5903A>G (p.Asp1968Gly)
c.5975A>G (p.Asp1992Gly)
 dbSNP gnomAD v4
3g.38550340T>GCA352139026SCN5Ac.6029A>C (p.Asp2010Ala)
c.6032A>C (p.Asp2011Ala)
c.5978A>C (p.Asp1993Ala)
c.5870A>C (p.Asp1957Ala)
c.5933A>C (p.Asp1978Ala)
c.5903A>C (p.Asp1968Ala)
c.5975A>C (p.Asp1992Ala)
3g.38550340T=CA1358561708SCN5Ac.6029A= (p.Asp2010=)
c.6032A= (p.Asp2011=)
c.5978A= (p.Asp1993=)
c.5870A= (p.Asp1957=)
c.5933A= (p.Asp1978=)
c.5903A= (p.Asp1968=)
c.5975A= (p.Asp1992=)
3g.38550341C>ACA352139030SCN5Ac.6028G>T (p.Asp2010Tyr)
c.6031G>T (p.Asp2011Tyr)
c.5977G>T (p.Asp1993Tyr)
c.5869G>T (p.Asp1957Tyr)
c.5932G>T (p.Asp1978Tyr)
c.5902G>T (p.Asp1968Tyr)
c.5974G>T (p.Asp1992Tyr)
 gnomAD v4
3g.38550341C>GCA352139029SCN5Ac.6028G>C (p.Asp2010His)
c.6031G>C (p.Asp2011His)
c.5977G>C (p.Asp1993His)
c.5869G>C (p.Asp1957His)
c.5932G>C (p.Asp1978His)
c.5902G>C (p.Asp1968His)
c.5974G>C (p.Asp1992His)
3g.38550341C>TCA352139028SCN5Ac.6028G>A (p.Asp2010Asn)
c.6031G>A (p.Asp2011Asn)
c.5977G>A (p.Asp1993Asn)
c.5869G>A (p.Asp1957Asn)
c.5932G>A (p.Asp1978Asn)
c.5902G>A (p.Asp1968Asn)
c.5974G>A (p.Asp1992Asn)
 COSMIC COSMIC COSMIC
3g.38550342C>ACA352139033SCN5Ac.6027G>T (p.Arg2009Ser)
c.6030G>T (p.Arg2010Ser)
c.5976G>T (p.Arg1992Ser)
c.5868G>T (p.Arg1956Ser)
c.5931G>T (p.Arg1977Ser)
c.5901G>T (p.Arg1967Ser)
c.5973G>T (p.Arg1991Ser)
 ClinVar dbSNP gnomAD v4
3g.38550342C=CA1358561709SCN5Ac.6027G= (p.Arg2009=)
c.6030G= (p.Arg2010=)
c.5976G= (p.Arg1992=)
c.5868G= (p.Arg1956=)
c.5931G= (p.Arg1977=)
c.5901G= (p.Arg1967=)
c.5973G= (p.Arg1991=)
3g.38550342C>GCA352139031SCN5Ac.6027G>C (p.Arg2009Ser)
c.6030G>C (p.Arg2010Ser)
c.5976G>C (p.Arg1992Ser)
c.5868G>C (p.Arg1956Ser)
c.5931G>C (p.Arg1977Ser)
c.5901G>C (p.Arg1967Ser)
c.5973G>C (p.Arg1991Ser)
3g.38550342C>TCA065231SCN5Ac.6027G>A (p.Arg2009=)
c.6030G>A (p.Arg2010=)
c.5976G>A (p.Arg1992=)
c.5868G>A (p.Arg1956=)
c.5931G>A (p.Arg1977=)
c.5901G>A (p.Arg1967=)
c.5973G>A (p.Arg1991=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38550343C>ACA352139036SCN5Ac.6026G>T (p.Arg2009Met)
c.6029G>T (p.Arg2010Met)
c.5975G>T (p.Arg1992Met)
c.5867G>T (p.Arg1956Met)
c.5930G>T (p.Arg1977Met)
c.5900G>T (p.Arg1967Met)
c.5972G>T (p.Arg1991Met)
3g.38550343C>GCA352139038SCN5Ac.6026G>C (p.Arg2009Thr)
c.6029G>C (p.Arg2010Thr)
c.5975G>C (p.Arg1992Thr)
c.5867G>C (p.Arg1956Thr)
c.5930G>C (p.Arg1977Thr)
c.5900G>C (p.Arg1967Thr)
c.5972G>C (p.Arg1991Thr)
 gnomAD v4
3g.38550343C>TCA352139040SCN5Ac.6026G>A (p.Arg2009Lys)
c.6029G>A (p.Arg2010Lys)
c.5975G>A (p.Arg1992Lys)
c.5867G>A (p.Arg1956Lys)
c.5930G>A (p.Arg1977Lys)
c.5900G>A (p.Arg1967Lys)
c.5972G>A (p.Arg1991Lys)
3g.38550344T>ACA352139042SCN5Ac.6025A>T (p.Arg2009Trp)
c.6028A>T (p.Arg2010Trp)
c.5974A>T (p.Arg1992Trp)
c.5866A>T (p.Arg1956Trp)
c.5929A>T (p.Arg1977Trp)
c.5899A>T (p.Arg1967Trp)
c.5971A>T (p.Arg1991Trp)
3g.38550344T>CCA065225SCN5Ac.6025A>G (p.Arg2009Gly)
c.6028A>G (p.Arg2010Gly)
c.5974A>G (p.Arg1992Gly)
c.5866A>G (p.Arg1956Gly)
c.5929A>G (p.Arg1977Gly)
c.5899A>G (p.Arg1967Gly)
c.5971A>G (p.Arg1991Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38550344T>GCA433134138SCN5Ac.6025A>C (p.Arg2009=)
c.6028A>C (p.Arg2010=)
c.5974A>C (p.Arg1992=)
c.5866A>C (p.Arg1956=)
c.5929A>C (p.Arg1977=)
c.5899A>C (p.Arg1967=)
c.5971A>C (p.Arg1991=)
 gnomAD v4
3g.38550344T=CA1358561710SCN5Ac.6025A= (p.Arg2009=)
c.6028A= (p.Arg2010=)
c.5974A= (p.Arg1992=)
c.5866A= (p.Arg1956=)
c.5929A= (p.Arg1977=)
c.5899A= (p.Arg1967=)
c.5971A= (p.Arg1991=)
3g.38550344_38550345insTTTTTTAATCA1047007107SCN5Ac.6025_6026insTTAAAAAAA (p.Asp2008_Arg2009insIleLysLys)
c.6028_6029insTTAAAAAAA (p.Asp2009_Arg2010insIleLysLys)
c.5974_5975insTTAAAAAAA (p.Asp1991_Arg1992insIleLysLys)
c.5866_5867insTTAAAAAAA (p.Asp1955_Arg1956insIleLysLys)
c.5929_5930insTTAAAAAAA (p.Asp1976_Arg1977insIleLysLys)
c.5899_5900insTTAAAAAAA (p.Asp1966_Arg1967insIleLysLys)
c.5971_5972insTTAAAAAAA (p.Asp1990_Arg1991insIleLysLys)
 gnomAD v3 gnomAD v4
3g.38550345G>ACA433134139SCN5Ac.6024C>T (p.Asp2008=)
c.6027C>T (p.Asp2009=)
c.5973C>T (p.Asp1991=)
c.5865C>T (p.Asp1955=)
c.5928C>T (p.Asp1976=)
c.5898C>T (p.Asp1966=)
c.5970C>T (p.Asp1990=)
3g.38550345G>CCA065218SCN5Ac.6024C>G (p.Asp2008Glu)
c.6027C>G (p.Asp2009Glu)
c.5973C>G (p.Asp1991Glu)
c.5865C>G (p.Asp1955Glu)
c.5928C>G (p.Asp1976Glu)
c.5898C>G (p.Asp1966Glu)
c.5970C>G (p.Asp1990Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550345G=CA1358561711SCN5Ac.6024C= (p.Asp2008=)
c.6027C= (p.Asp2009=)
c.5973C= (p.Asp1991=)
c.5865C= (p.Asp1955=)
c.5928C= (p.Asp1976=)
c.5898C= (p.Asp1966=)
c.5970C= (p.Asp1990=)
3g.38550345G>TCA352139043SCN5Ac.6024C>A (p.Asp2008Glu)
c.6027C>A (p.Asp2009Glu)
c.5973C>A (p.Asp1991Glu)
c.5865C>A (p.Asp1955Glu)
c.5928C>A (p.Asp1976Glu)
c.5898C>A (p.Asp1966Glu)
c.5970C>A (p.Asp1990Glu)
 gnomAD v4
3g.38550345_38550346insACA1047007112SCN5Ac.6023_6024insT (p.Arg2009GlnfsTer4)
c.6026_6027insT (p.Arg2010GlnfsTer4)
c.5972_5973insT (p.Arg1992GlnfsTer4)
c.5864_5865insT (p.Arg1956GlnfsTer4)
c.5927_5928insT (p.Arg1977GlnfsTer4)
c.5897_5898insT (p.Arg1967GlnfsTer4)
c.5969_5970insT (p.Arg1991GlnfsTer4)
 gnomAD v3 gnomAD v4
3g.38550346T>ACA352139046SCN5Ac.6023A>T (p.Asp2008Val)
c.6026A>T (p.Asp2009Val)
c.5972A>T (p.Asp1991Val)
c.5864A>T (p.Asp1955Val)
c.5927A>T (p.Asp1976Val)
c.5897A>T (p.Asp1966Val)
c.5969A>T (p.Asp1990Val)
3g.38550346T>CCA352139048SCN5Ac.6023A>G (p.Asp2008Gly)
c.6026A>G (p.Asp2009Gly)
c.5972A>G (p.Asp1991Gly)
c.5864A>G (p.Asp1955Gly)
c.5927A>G (p.Asp1976Gly)
c.5897A>G (p.Asp1966Gly)
c.5969A>G (p.Asp1990Gly)
3g.38550346T>GCA352139049SCN5Ac.6023A>C (p.Asp2008Ala)
c.6026A>C (p.Asp2009Ala)
c.5972A>C (p.Asp1991Ala)
c.5864A>C (p.Asp1955Ala)
c.5927A>C (p.Asp1976Ala)
c.5897A>C (p.Asp1966Ala)
c.5969A>C (p.Asp1990Ala)
3g.38550347C>ACA352139052SCN5Ac.6022G>T (p.Asp2008Tyr)
c.6025G>T (p.Asp2009Tyr)
c.5971G>T (p.Asp1991Tyr)
c.5863G>T (p.Asp1955Tyr)
c.5926G>T (p.Asp1976Tyr)
c.5896G>T (p.Asp1966Tyr)
c.5968G>T (p.Asp1990Tyr)
 gnomAD v3 gnomAD v4
3g.38550347C>GCA352139054SCN5Ac.6022G>C (p.Asp2008His)
c.6025G>C (p.Asp2009His)
c.5971G>C (p.Asp1991His)
c.5863G>C (p.Asp1955His)
c.5926G>C (p.Asp1976His)
c.5896G>C (p.Asp1966His)
c.5968G>C (p.Asp1990His)
3g.38550347C>TCA352139055SCN5Ac.6022G>A (p.Asp2008Asn)
c.6025G>A (p.Asp2009Asn)
c.5971G>A (p.Asp1991Asn)
c.5863G>A (p.Asp1955Asn)
c.5926G>A (p.Asp1976Asn)
c.5896G>A (p.Asp1966Asn)
c.5968G>A (p.Asp1990Asn)
 gnomAD v4 COSMIC COSMIC COSMIC
3g.38550348C>ACA433134142SCN5Ac.6021G>T (p.Pro2007=)
c.6024G>T (p.Pro2008=)
c.5970G>T (p.Pro1990=)
c.5862G>T (p.Pro1954=)
c.5925G>T (p.Pro1975=)
c.5895G>T (p.Pro1965=)
c.5967G>T (p.Pro1989=)
 gnomAD v4
3g.38550348C=CA1358561712SCN5Ac.6021G= (p.Pro2007=)
c.6024G= (p.Pro2008=)
c.5970G= (p.Pro1990=)
c.5862G= (p.Pro1954=)
c.5925G= (p.Pro1975=)
c.5895G= (p.Pro1965=)
c.5967G= (p.Pro1989=)
3g.38550348C>GCA433134143SCN5Ac.6021G>C (p.Pro2007=)
c.6024G>C (p.Pro2008=)
c.5970G>C (p.Pro1990=)
c.5862G>C (p.Pro1954=)
c.5925G>C (p.Pro1975=)
c.5895G>C (p.Pro1965=)
c.5967G>C (p.Pro1989=)
 ClinVar
3g.38550348C>TCA065213SCN5Ac.6021G>A (p.Pro2007=)
c.6024G>A (p.Pro2008=)
c.5970G>A (p.Pro1990=)
c.5862G>A (p.Pro1954=)
c.5925G>A (p.Pro1975=)
c.5895G>A (p.Pro1965=)
c.5967G>A (p.Pro1989=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38550349G>ACA065208SCN5Ac.6020C>T (p.Pro2007Leu)
c.6023C>T (p.Pro2008Leu)
c.5969C>T (p.Pro1990Leu)
c.5861C>T (p.Pro1954Leu)
c.5924C>T (p.Pro1975Leu)
c.5894C>T (p.Pro1965Leu)
c.5966C>T (p.Pro1989Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
3g.38550349G>CCA352139060SCN5Ac.6020C>G (p.Pro2007Arg)
c.6023C>G (p.Pro2008Arg)
c.5969C>G (p.Pro1990Arg)
c.5861C>G (p.Pro1954Arg)
c.5924C>G (p.Pro1975Arg)
c.5894C>G (p.Pro1965Arg)
c.5966C>G (p.Pro1989Arg)
3g.38550349G=CA1358561713SCN5Ac.6020C= (p.Pro2007=)
c.6023C= (p.Pro2008=)
c.5969C= (p.Pro1990=)
c.5861C= (p.Pro1954=)
c.5924C= (p.Pro1975=)
c.5894C= (p.Pro1965=)
c.5966C= (p.Pro1989=)
3g.38550349G>TCA352139061SCN5Ac.6020C>A (p.Pro2007Gln)
c.6023C>A (p.Pro2008Gln)
c.5969C>A (p.Pro1990Gln)
c.5861C>A (p.Pro1954Gln)
c.5924C>A (p.Pro1975Gln)
c.5894C>A (p.Pro1965Gln)
c.5966C>A (p.Pro1989Gln)
3g.38550350G>ACA352139064SCN5Ac.6019C>T (p.Pro2007Ser)
c.6022C>T (p.Pro2008Ser)
c.5968C>T (p.Pro1990Ser)
c.5860C>T (p.Pro1954Ser)
c.5923C>T (p.Pro1975Ser)
c.5893C>T (p.Pro1965Ser)
c.5965C>T (p.Pro1989Ser)
3g.38550350G>CCA352139066SCN5Ac.6019C>G (p.Pro2007Ala)
c.6022C>G (p.Pro2008Ala)
c.5968C>G (p.Pro1990Ala)
c.5860C>G (p.Pro1954Ala)
c.5923C>G (p.Pro1975Ala)
c.5893C>G (p.Pro1965Ala)
c.5965C>G (p.Pro1989Ala)
3g.38550350G>TCA352139067SCN5Ac.6019C>A (p.Pro2007Thr)
c.6022C>A (p.Pro2008Thr)
c.5968C>A (p.Pro1990Thr)
c.5860C>A (p.Pro1954Thr)
c.5923C>A (p.Pro1975Thr)
c.5893C>A (p.Pro1965Thr)
c.5965C>A (p.Pro1989Thr)
3g.38550351A>CCA433134145SCN5Ac.6018T>G (p.Ser2006=)
c.6021T>G (p.Ser2007=)
c.5967T>G (p.Ser1989=)
c.5859T>G (p.Ser1953=)
c.5922T>G (p.Ser1974=)
c.5892T>G (p.Ser1964=)
c.5964T>G (p.Ser1988=)
 gnomAD v3 gnomAD v4
3g.38550351A>GCA433134146SCN5Ac.6018T>C (p.Ser2006=)
c.6021T>C (p.Ser2007=)
c.5967T>C (p.Ser1989=)
c.5859T>C (p.Ser1953=)
c.5922T>C (p.Ser1974=)
c.5892T>C (p.Ser1964=)
c.5964T>C (p.Ser1988=)
 gnomAD v4
3g.38550351A>TCA433134147SCN5Ac.6018T>A (p.Ser2006=)
c.6021T>A (p.Ser2007=)
c.5967T>A (p.Ser1989=)
c.5859T>A (p.Ser1953=)
c.5922T>A (p.Ser1974=)
c.5892T>A (p.Ser1964=)
c.5964T>A (p.Ser1988=)
3g.38550352G>ACA352139069SCN5Ac.6017C>T (p.Ser2006Phe)
c.6020C>T (p.Ser2007Phe)
c.5966C>T (p.Ser1989Phe)
c.5858C>T (p.Ser1953Phe)
c.5921C>T (p.Ser1974Phe)
c.5891C>T (p.Ser1964Phe)
c.5963C>T (p.Ser1988Phe)
3g.38550352G>CCA352139071SCN5Ac.6017C>G (p.Ser2006Cys)
c.6020C>G (p.Ser2007Cys)
c.5966C>G (p.Ser1989Cys)
c.5858C>G (p.Ser1953Cys)
c.5921C>G (p.Ser1974Cys)
c.5891C>G (p.Ser1964Cys)
c.5963C>G (p.Ser1988Cys)
3g.38550352G>TCA352139072SCN5Ac.6017C>A (p.Ser2006Tyr)
c.6020C>A (p.Ser2007Tyr)
c.5966C>A (p.Ser1989Tyr)
c.5858C>A (p.Ser1953Tyr)
c.5921C>A (p.Ser1974Tyr)
c.5891C>A (p.Ser1964Tyr)
c.5963C>A (p.Ser1988Tyr)
 gnomAD v4
3g.38550353A>CCA352139074SCN5Ac.6016T>G (p.Ser2006Ala)
c.6019T>G (p.Ser2007Ala)
c.5965T>G (p.Ser1989Ala)
c.5857T>G (p.Ser1953Ala)
c.5920T>G (p.Ser1974Ala)
c.5890T>G (p.Ser1964Ala)
c.5962T>G (p.Ser1988Ala)
 gnomAD v4
3g.38550353A>GCA352139076SCN5Ac.6016T>C (p.Ser2006Pro)
c.6019T>C (p.Ser2007Pro)
c.5965T>C (p.Ser1989Pro)
c.5857T>C (p.Ser1953Pro)
c.5920T>C (p.Ser1974Pro)
c.5890T>C (p.Ser1964Pro)
c.5962T>C (p.Ser1988Pro)
3g.38550353A>TCA352139077SCN5Ac.6016T>A (p.Ser2006Thr)
c.6019T>A (p.Ser2007Thr)
c.5965T>A (p.Ser1989Thr)
c.5857T>A (p.Ser1953Thr)
c.5920T>A (p.Ser1974Thr)
c.5890T>A (p.Ser1964Thr)
c.5962T>A (p.Ser1988Thr)
 gnomAD v4
3g.38550353_38550354insCCCA1047007121SCN5Ac.6015_6016insGG (p.Ser2006GlyfsTer?)
c.6018_6019insGG (p.Ser2007GlyfsTer?)
c.5964_5965insGG (p.Ser1989GlyfsTer?)
c.5856_5857insGG (p.Ser1953GlyfsTer?)
c.5919_5920insGG (p.Ser1974GlyfsTer?)
c.5889_5890insGG (p.Ser1964GlyfsTer?)
c.5961_5962insGG (p.Ser1988GlyfsTer?)
 gnomAD v3 gnomAD v4
3g.38550354A=CA1358561715SCN5Ac.6015T= (p.Pro2005=)
c.6018T= (p.Pro2006=)
c.5964T= (p.Pro1988=)
c.5856T= (p.Pro1952=)
c.5919T= (p.Pro1973=)
c.5889T= (p.Pro1963=)
c.5961T= (p.Pro1987=)
3g.38550354A>CCA433134149SCN5Ac.6015T>G (p.Pro2005=)
c.6018T>G (p.Pro2006=)
c.5964T>G (p.Pro1988=)
c.5856T>G (p.Pro1952=)
c.5919T>G (p.Pro1973=)
c.5889T>G (p.Pro1963=)
c.5961T>G (p.Pro1987=)
3g.38550354A>GCA433134151SCN5Ac.6015T>C (p.Pro2005=)
c.6018T>C (p.Pro2006=)
c.5964T>C (p.Pro1988=)
c.5856T>C (p.Pro1952=)
c.5919T>C (p.Pro1973=)
c.5889T>C (p.Pro1963=)
c.5961T>C (p.Pro1987=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38550354A>TCA433134153SCN5Ac.6015T>A (p.Pro2005=)
c.6018T>A (p.Pro2006=)
c.5964T>A (p.Pro1988=)
c.5856T>A (p.Pro1952=)
c.5919T>A (p.Pro1973=)
c.5889T>A (p.Pro1963=)
c.5961T>A (p.Pro1987=)
3g.38550354_38550357delinsAGGGCA1358561714SCN5Ac.6012_6015delinsCCCT (p.Pro2004=)
c.6015_6018delinsCCCT (p.Pro2005=)
c.5961_5964delinsCCCT (p.Pro1987=)
c.5853_5856delinsCCCT (p.Pro1951=)
c.5916_5919delinsCCCT (p.Pro1972=)
c.5886_5889delinsCCCT (p.Pro1962=)
c.5958_5961delinsCCCT (p.Pro1986=)
3g.38550355G>ACA019607SCN5Ac.6014C>T (p.Pro2005Leu)
c.6017C>T (p.Pro2006Leu)
c.5963C>T (p.Pro1988Leu)
c.5855C>T (p.Pro1952Leu)
c.5918C>T (p.Pro1973Leu)
c.5888C>T (p.Pro1963Leu)
c.5960C>T (p.Pro1987Leu)
 ClinVar dbSNP
3g.38550355G>CCA019601SCN5Ac.6014C>G (p.Pro2005Arg)
c.6017C>G (p.Pro2006Arg)
c.5963C>G (p.Pro1988Arg)
c.5855C>G (p.Pro1952Arg)
c.5918C>G (p.Pro1973Arg)
c.5888C>G (p.Pro1963Arg)
c.5960C>G (p.Pro1987Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38550355G=CA1358561716SCN5Ac.6014C= (p.Pro2005=)
c.6017C= (p.Pro2006=)
c.5963C= (p.Pro1988=)
c.5855C= (p.Pro1952=)
c.5918C= (p.Pro1973=)
c.5888C= (p.Pro1963=)
c.5960C= (p.Pro1987=)
3g.38550355G>TCA352139080SCN5Ac.6014C>A (p.Pro2005His)
c.6017C>A (p.Pro2006His)
c.5963C>A (p.Pro1988His)
c.5855C>A (p.Pro1952His)
c.5918C>A (p.Pro1973His)
c.5888C>A (p.Pro1963His)
c.5960C>A (p.Pro1987His)
 gnomAD v4
3g.38550360dupCA2319532SCN5Ac.6014dup (p.Ser2006PhefsTer7)
c.6017dup (p.Ser2007PhefsTer7)
c.5963dup (p.Ser1989PhefsTer7)
c.5855dup (p.Ser1953PhefsTer7)
c.5918dup (p.Ser1974PhefsTer7)
c.5888dup (p.Ser1964PhefsTer7)
c.5960dup (p.Ser1988PhefsTer7)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38550360delCA542269469SCN5Ac.6014del (p.Pro2005LeufsTer?)
c.6017del (p.Pro2006LeufsTer?)
c.5963del (p.Pro1988LeufsTer?)
c.5855del (p.Pro1952LeufsTer?)
c.5918del (p.Pro1973LeufsTer?)
c.5888del (p.Pro1963LeufsTer?)
c.5960del (p.Pro1987LeufsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38550358_38550360delCA542269470SCN5Ac.6012_6014del (p.Pro2005del)
c.6015_6017del (p.Pro2006del)
c.5961_5963del (p.Pro1988del)
c.5853_5855del (p.Pro1952del)
c.5916_5918del (p.Pro1973del)
c.5886_5888del (p.Pro1963del)
c.5958_5960del (p.Pro1987del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38550355_38550364delCA1047007129SCN5Ac.6005_6014del (p.Asp2002ValfsTer?)
c.6008_6017del (p.Asp2003ValfsTer?)
c.5954_5963del (p.Asp1985ValfsTer?)
c.5846_5855del (p.Asp1949ValfsTer?)
c.5909_5918del (p.Asp1970ValfsTer?)
c.5879_5888del (p.Asp1960ValfsTer?)
c.5951_5960del (p.Asp1984ValfsTer?)
 gnomAD v3 gnomAD v4
3g.38550356G>ACA352139085SCN5Ac.6013C>T (p.Pro2005Ser)
c.6016C>T (p.Pro2006Ser)
c.5962C>T (p.Pro1988Ser)
c.5854C>T (p.Pro1952Ser)
c.5917C>T (p.Pro1973Ser)
c.5887C>T (p.Pro1963Ser)
c.5959C>T (p.Pro1987Ser)
3g.38550356G>CCA019597SCN5Ac.6013C>G (p.Pro2005Ala)
c.6016C>G (p.Pro2006Ala)
c.5962C>G (p.Pro1988Ala)
c.5854C>G (p.Pro1952Ala)
c.5917C>G (p.Pro1973Ala)
c.5887C>G (p.Pro1963Ala)
c.5959C>G (p.Pro1987Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550356G=CA1358561717SCN5Ac.6013C= (p.Pro2005=)
c.6016C= (p.Pro2006=)
c.5962C= (p.Pro1988=)
c.5854C= (p.Pro1952=)
c.5917C= (p.Pro1973=)
c.5887C= (p.Pro1963=)
c.5959C= (p.Pro1987=)
3g.38550356G>TCA352139087SCN5Ac.6013C>A (p.Pro2005Thr)
c.6016C>A (p.Pro2006Thr)
c.5962C>A (p.Pro1988Thr)
c.5854C>A (p.Pro1952Thr)
c.5917C>A (p.Pro1973Thr)
c.5887C>A (p.Pro1963Thr)
c.5959C>A (p.Pro1987Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38550357G>ACA433134156SCN5Ac.6012C>T (p.Pro2004=)
c.6015C>T (p.Pro2005=)
c.5961C>T (p.Pro1987=)
c.5853C>T (p.Pro1951=)
c.5916C>T (p.Pro1972=)
c.5886C>T (p.Pro1962=)
c.5958C>T (p.Pro1986=)
 ClinVar dbSNP gnomAD v4
3g.38550357G>CCA433134157SCN5Ac.6012C>G (p.Pro2004=)
c.6015C>G (p.Pro2005=)
c.5961C>G (p.Pro1987=)
c.5853C>G (p.Pro1951=)
c.5916C>G (p.Pro1972=)
c.5886C>G (p.Pro1962=)
c.5958C>G (p.Pro1986=)
3g.38550357G>TCA433134158SCN5Ac.6012C>A (p.Pro2004=)
c.6015C>A (p.Pro2005=)
c.5961C>A (p.Pro1987=)
c.5853C>A (p.Pro1951=)
c.5916C>A (p.Pro1972=)
c.5886C>A (p.Pro1962=)
c.5958C>A (p.Pro1986=)
3g.38550358G>ACA019593SCN5Ac.6011C>T (p.Pro2004Leu)
c.6014C>T (p.Pro2005Leu)
c.5960C>T (p.Pro1987Leu)
c.5852C>T (p.Pro1951Leu)
c.5915C>T (p.Pro1972Leu)
c.5885C>T (p.Pro1962Leu)
c.5957C>T (p.Pro1986Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
3g.38550358G>CCA352139089SCN5Ac.6011C>G (p.Pro2004Arg)
c.6014C>G (p.Pro2005Arg)
c.5960C>G (p.Pro1987Arg)
c.5852C>G (p.Pro1951Arg)
c.5915C>G (p.Pro1972Arg)
c.5885C>G (p.Pro1962Arg)
c.5957C>G (p.Pro1986Arg)
3g.38550358G=CA1358561718SCN5Ac.6011C= (p.Pro2004=)
c.6014C= (p.Pro2005=)
c.5960C= (p.Pro1987=)
c.5852C= (p.Pro1951=)
c.5915C= (p.Pro1972=)
c.5885C= (p.Pro1962=)
c.5957C= (p.Pro1986=)
3g.38550358G>TCA352139090SCN5Ac.6011C>A (p.Pro2004His)
c.6014C>A (p.Pro2005His)
c.5960C>A (p.Pro1987His)
c.5852C>A (p.Pro1951His)
c.5915C>A (p.Pro1972His)
c.5885C>A (p.Pro1962His)
c.5957C>A (p.Pro1986His)
 ClinVar dbSNP
3g.38550359G>ACA065192SCN5Ac.6010C>T (p.Pro2004Ser)
c.6013C>T (p.Pro2005Ser)
c.5959C>T (p.Pro1987Ser)
c.5851C>T (p.Pro1951Ser)
c.5914C>T (p.Pro1972Ser)
c.5884C>T (p.Pro1962Ser)
c.5956C>T (p.Pro1986Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38550359G>CCA019590SCN5Ac.6010C>G (p.Pro2004Ala)
c.6013C>G (p.Pro2005Ala)
c.5959C>G (p.Pro1987Ala)
c.5851C>G (p.Pro1951Ala)
c.5914C>G (p.Pro1972Ala)
c.5884C>G (p.Pro1962Ala)
c.5956C>G (p.Pro1986Ala)
 ClinVar dbSNP
3g.38550359G=CA1358561719SCN5Ac.6010C= (p.Pro2004=)
c.6013C= (p.Pro2005=)
c.5959C= (p.Pro1987=)
c.5851C= (p.Pro1951=)
c.5914C= (p.Pro1972=)
c.5884C= (p.Pro1962=)
c.5956C= (p.Pro1986=)
3g.38550359G>TCA352139093SCN5Ac.6010C>A (p.Pro2004Thr)
c.6013C>A (p.Pro2005Thr)
c.5959C>A (p.Pro1987Thr)
c.5851C>A (p.Pro1951Thr)
c.5914C>A (p.Pro1972Thr)
c.5884C>A (p.Pro1962Thr)
c.5956C>A (p.Pro1986Thr)
3g.38550360G>ACA433134159SCN5Ac.6009C>T (p.Phe2003=)
c.6012C>T (p.Phe2004=)
c.5958C>T (p.Phe1986=)
c.5850C>T (p.Phe1950=)
c.5913C>T (p.Phe1971=)
c.5883C>T (p.Phe1961=)
c.5955C>T (p.Phe1985=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38550360G>CCA065185SCN5Ac.6009C>G (p.Phe2003Leu)
c.6012C>G (p.Phe2004Leu)
c.5958C>G (p.Phe1986Leu)
c.5850C>G (p.Phe1950Leu)
c.5913C>G (p.Phe1971Leu)
c.5883C>G (p.Phe1961Leu)
c.5955C>G (p.Phe1985Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38550360G=CA1358561720SCN5Ac.6009C= (p.Phe2003=)
c.6012C= (p.Phe2004=)
c.5958C= (p.Phe1986=)
c.5850C= (p.Phe1950=)
c.5913C= (p.Phe1971=)
c.5883C= (p.Phe1961=)
c.5955C= (p.Phe1985=)
3g.38550360G>TCA352139097SCN5Ac.6009C>A (p.Phe2003Leu)
c.6012C>A (p.Phe2004Leu)
c.5958C>A (p.Phe1986Leu)
c.5850C>A (p.Phe1950Leu)
c.5913C>A (p.Phe1971Leu)
c.5883C>A (p.Phe1961Leu)
c.5955C>A (p.Phe1985Leu)
3g.38550361_38550363dupCA2586965711SCN5Ac.6007_6009dup (p.Phe2003_Pro2004insPhe)
c.6010_6012dup (p.Phe2004_Pro2005insPhe)
c.5956_5958dup (p.Phe1986_Pro1987insPhe)
c.5848_5850dup (p.Phe1950_Pro1951insPhe)
c.5911_5913dup (p.Phe1971_Pro1972insPhe)
c.5881_5883dup (p.Phe1961_Pro1962insPhe)
c.5953_5955dup (p.Phe1985_Pro1986insPhe)
3g.38550361A=CA1358561721SCN5Ac.6008T= (p.Phe2003=)
c.6011T= (p.Phe2004=)
c.5957T= (p.Phe1986=)
c.5849T= (p.Phe1950=)
c.5912T= (p.Phe1971=)
c.5882T= (p.Phe1961=)
c.5954T= (p.Phe1985=)
3g.38550361A>CCA352139099SCN5Ac.6008T>G (p.Phe2003Cys)
c.6011T>G (p.Phe2004Cys)
c.5957T>G (p.Phe1986Cys)
c.5849T>G (p.Phe1950Cys)
c.5912T>G (p.Phe1971Cys)
c.5882T>G (p.Phe1961Cys)
c.5954T>G (p.Phe1985Cys)
 ClinVar
3g.38550361A>GCA019586SCN5Ac.6008T>C (p.Phe2003Ser)
c.6011T>C (p.Phe2004Ser)
c.5957T>C (p.Phe1986Ser)
c.5849T>C (p.Phe1950Ser)
c.5912T>C (p.Phe1971Ser)
c.5882T>C (p.Phe1961Ser)
c.5954T>C (p.Phe1985Ser)
 ClinVar dbSNP gnomAD v4
3g.38550361A>TCA352139102SCN5Ac.6008T>A (p.Phe2003Tyr)
c.6011T>A (p.Phe2004Tyr)
c.5957T>A (p.Phe1986Tyr)
c.5849T>A (p.Phe1950Tyr)
c.5912T>A (p.Phe1971Tyr)
c.5882T>A (p.Phe1961Tyr)
c.5954T>A (p.Phe1985Tyr)
3g.38550362A=CA1358561722SCN5Ac.6007T= (p.Phe2003=)
c.6010T= (p.Phe2004=)
c.5956T= (p.Phe1986=)
c.5848T= (p.Phe1950=)
c.5911T= (p.Phe1971=)
c.5881T= (p.Phe1961=)
c.5953T= (p.Phe1985=)
3g.38550362A>CCA019582SCN5Ac.6007T>G (p.Phe2003Val)
c.6010T>G (p.Phe2004Val)
c.5956T>G (p.Phe1986Val)
c.5848T>G (p.Phe1950Val)
c.5911T>G (p.Phe1971Val)
c.5881T>G (p.Phe1961Val)
c.5953T>G (p.Phe1985Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550362A>GCA019578SCN5Ac.6007T>C (p.Phe2003Leu)
c.6010T>C (p.Phe2004Leu)
c.5956T>C (p.Phe1986Leu)
c.5848T>C (p.Phe1950Leu)
c.5911T>C (p.Phe1971Leu)
c.5881T>C (p.Phe1961Leu)
c.5953T>C (p.Phe1985Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550362A>TCA065172SCN5Ac.6007T>A (p.Phe2003Ile)
c.6010T>A (p.Phe2004Ile)
c.5956T>A (p.Phe1986Ile)
c.5848T>A (p.Phe1950Ile)
c.5911T>A (p.Phe1971Ile)
c.5881T>A (p.Phe1961Ile)
c.5953T>A (p.Phe1985Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550363G>ACA433134162SCN5Ac.6006C>T (p.Asp2002=)
c.6009C>T (p.Asp2003=)
c.5955C>T (p.Asp1985=)
c.5847C>T (p.Asp1949=)
c.5910C>T (p.Asp1970=)
c.5880C>T (p.Asp1960=)
c.5952C>T (p.Asp1984=)
 dbSNP gnomAD v4
3g.38550363G>CCA352139106SCN5Ac.6006C>G (p.Asp2002Glu)
c.6009C>G (p.Asp2003Glu)
c.5955C>G (p.Asp1985Glu)
c.5847C>G (p.Asp1949Glu)
c.5910C>G (p.Asp1970Glu)
c.5880C>G (p.Asp1960Glu)
c.5952C>G (p.Asp1984Glu)
3g.38550363G=CA1358561723SCN5Ac.6006C= (p.Asp2002=)
c.6009C= (p.Asp2003=)
c.5955C= (p.Asp1985=)
c.5847C= (p.Asp1949=)
c.5910C= (p.Asp1970=)
c.5880C= (p.Asp1960=)
c.5952C= (p.Asp1984=)
3g.38550363G>TCA352139107SCN5Ac.6006C>A (p.Asp2002Glu)
c.6009C>A (p.Asp2003Glu)
c.5955C>A (p.Asp1985Glu)
c.5847C>A (p.Asp1949Glu)
c.5910C>A (p.Asp1970Glu)
c.5880C>A (p.Asp1960Glu)
c.5952C>A (p.Asp1984Glu)
3g.38550364T>ACA352139110SCN5Ac.6005A>T (p.Asp2002Val)
c.6008A>T (p.Asp2003Val)
c.5954A>T (p.Asp1985Val)
c.5846A>T (p.Asp1949Val)
c.5909A>T (p.Asp1970Val)
c.5879A>T (p.Asp1960Val)
c.5951A>T (p.Asp1984Val)
3g.38550364T>CCA352139111SCN5Ac.6005A>G (p.Asp2002Gly)
c.6008A>G (p.Asp2003Gly)
c.5954A>G (p.Asp1985Gly)
c.5846A>G (p.Asp1949Gly)
c.5909A>G (p.Asp1970Gly)
c.5879A>G (p.Asp1960Gly)
c.5951A>G (p.Asp1984Gly)
3g.38550364T>GCA352139113SCN5Ac.6005A>C (p.Asp2002Ala)
c.6008A>C (p.Asp2003Ala)
c.5954A>C (p.Asp1985Ala)
c.5846A>C (p.Asp1949Ala)
c.5909A>C (p.Asp1970Ala)
c.5879A>C (p.Asp1960Ala)
c.5951A>C (p.Asp1984Ala)
3g.38550365C>ACA352139115SCN5Ac.6004G>T (p.Asp2002Tyr)
c.6007G>T (p.Asp2003Tyr)
c.5953G>T (p.Asp1985Tyr)
c.5845G>T (p.Asp1949Tyr)
c.5908G>T (p.Asp1970Tyr)
c.5878G>T (p.Asp1960Tyr)
c.5950G>T (p.Asp1984Tyr)
 gnomAD v4
3g.38550365C=CA1358561724SCN5Ac.6004G= (p.Asp2002=)
c.6007G= (p.Asp2003=)
c.5953G= (p.Asp1985=)
c.5845G= (p.Asp1949=)
c.5908G= (p.Asp1970=)
c.5878G= (p.Asp1960=)
c.5950G= (p.Asp1984=)
3g.38550365C>GCA352139117SCN5Ac.6004G>C (p.Asp2002His)
c.6007G>C (p.Asp2003His)
c.5953G>C (p.Asp1985His)
c.5845G>C (p.Asp1949His)
c.5908G>C (p.Asp1970His)
c.5878G>C (p.Asp1960His)
c.5950G>C (p.Asp1984His)
 gnomAD v4
3g.38550365C>TCA065167SCN5Ac.6004G>A (p.Asp2002Asn)
c.6007G>A (p.Asp2003Asn)
c.5953G>A (p.Asp1985Asn)
c.5845G>A (p.Asp1949Asn)
c.5908G>A (p.Asp1970Asn)
c.5878G>A (p.Asp1960Asn)
c.5950G>A (p.Asp1984Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550366G>ACA065162SCN5Ac.6003C>T (p.Ala2001=)
c.6006C>T (p.Ala2002=)
c.5952C>T (p.Ala1984=)
c.5844C>T (p.Ala1948=)
c.5907C>T (p.Ala1969=)
c.5877C>T (p.Ala1959=)
c.5949C>T (p.Ala1983=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38550366G>CCA433134166SCN5Ac.6003C>G (p.Ala2001=)
c.6006C>G (p.Ala2002=)
c.5952C>G (p.Ala1984=)
c.5844C>G (p.Ala1948=)
c.5907C>G (p.Ala1969=)
c.5877C>G (p.Ala1959=)
c.5949C>G (p.Ala1983=)
3g.38550366G=CA1358561725SCN5Ac.6003C= (p.Ala2001=)
c.6006C= (p.Ala2002=)
c.5952C= (p.Ala1984=)
c.5844C= (p.Ala1948=)
c.5907C= (p.Ala1969=)
c.5877C= (p.Ala1959=)
c.5949C= (p.Ala1983=)
3g.38550366G>TCA433134167SCN5Ac.6003C>A (p.Ala2001=)
c.6006C>A (p.Ala2002=)
c.5952C>A (p.Ala1984=)
c.5844C>A (p.Ala1948=)
c.5907C>A (p.Ala1969=)
c.5877C>A (p.Ala1959=)
c.5949C>A (p.Ala1983=)
 ClinVar COSMIC COSMIC COSMIC
3g.38550366_38550367delCA1047007147SCN5Ac.6002_6003del (p.Ala2001GlyfsTer11)
c.6005_6006del (p.Ala2002GlyfsTer11)
c.5951_5952del (p.Ala1984GlyfsTer11)
c.5843_5844del (p.Ala1948GlyfsTer11)
c.5906_5907del (p.Ala1969GlyfsTer11)
c.5876_5877del (p.Ala1959GlyfsTer11)
c.5948_5949del (p.Ala1983GlyfsTer11)
 gnomAD v3 gnomAD v4
3g.38550367G>ACA352139121SCN5Ac.6002C>T (p.Ala2001Val)
c.6005C>T (p.Ala2002Val)
c.5951C>T (p.Ala1984Val)
c.5843C>T (p.Ala1948Val)
c.5906C>T (p.Ala1969Val)
c.5876C>T (p.Ala1959Val)
c.5948C>T (p.Ala1983Val)
 gnomAD v4 COSMIC COSMIC COSMIC
3g.38550367G>CCA352139122SCN5Ac.6002C>G (p.Ala2001Gly)
c.6005C>G (p.Ala2002Gly)
c.5951C>G (p.Ala1984Gly)
c.5843C>G (p.Ala1948Gly)
c.5906C>G (p.Ala1969Gly)
c.5876C>G (p.Ala1959Gly)
c.5948C>G (p.Ala1983Gly)
3g.38550367G>TCA352139124SCN5Ac.6002C>A (p.Ala2001Asp)
c.6005C>A (p.Ala2002Asp)
c.5951C>A (p.Ala1984Asp)
c.5843C>A (p.Ala1948Asp)
c.5906C>A (p.Ala1969Asp)
c.5876C>A (p.Ala1959Asp)
c.5948C>A (p.Ala1983Asp)
3g.38550368C>ACA065157SCN5Ac.6001G>T (p.Ala2001Ser)
c.6004G>T (p.Ala2002Ser)
c.5950G>T (p.Ala1984Ser)
c.5842G>T (p.Ala1948Ser)
c.5905G>T (p.Ala1969Ser)
c.5875G>T (p.Ala1959Ser)
c.5947G>T (p.Ala1983Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38550368C=CA1358561726SCN5Ac.6001G= (p.Ala2001=)
c.6004G= (p.Ala2002=)
c.5950G= (p.Ala1984=)
c.5842G= (p.Ala1948=)
c.5905G= (p.Ala1969=)
c.5875G= (p.Ala1959=)
c.5947G= (p.Ala1983=)
3g.38550368C>GCA352139125SCN5Ac.6001G>C (p.Ala2001Pro)
c.6004G>C (p.Ala2002Pro)
c.5950G>C (p.Ala1984Pro)
c.5842G>C (p.Ala1948Pro)
c.5905G>C (p.Ala1969Pro)
c.5875G>C (p.Ala1959Pro)
c.5947G>C (p.Ala1983Pro)
3g.38550368C>TCA10576613SCN5Ac.6001G>A (p.Ala2001Thr)
c.6004G>A (p.Ala2002Thr)
c.5950G>A (p.Ala1984Thr)
c.5842G>A (p.Ala1948Thr)
c.5905G>A (p.Ala1969Thr)
c.5875G>A (p.Ala1959Thr)
c.5947G>A (p.Ala1983Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38550369G>ACA019574SCN5Ac.6000C>T (p.Leu2000=)
c.6003C>T (p.Leu2001=)
c.5949C>T (p.Leu1983=)
c.5841C>T (p.Leu1947=)
c.5904C>T (p.Leu1968=)
c.5874C>T (p.Leu1958=)
c.5946C>T (p.Leu1982=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550369G>CCA433134173SCN5Ac.6000C>G (p.Leu2000=)
c.6003C>G (p.Leu2001=)
c.5949C>G (p.Leu1983=)
c.5841C>G (p.Leu1947=)
c.5904C>G (p.Leu1968=)
c.5874C>G (p.Leu1958=)
c.5946C>G (p.Leu1982=)
3g.38550369G=CA1358561727SCN5Ac.6000C= (p.Leu2000=)
c.6003C= (p.Leu2001=)
c.5949C= (p.Leu1983=)
c.5841C= (p.Leu1947=)
c.5904C= (p.Leu1968=)
c.5874C= (p.Leu1958=)
c.5946C= (p.Leu1982=)
3g.38550369G>TCA433134172SCN5Ac.6000C>A (p.Leu2000=)
c.6003C>A (p.Leu2001=)
c.5949C>A (p.Leu1983=)
c.5841C>A (p.Leu1947=)
c.5904C>A (p.Leu1968=)
c.5874C>A (p.Leu1958=)
c.5946C>A (p.Leu1982=)
3g.38550370A>CCA352139129SCN5Ac.5999T>G (p.Leu2000Arg)
c.6002T>G (p.Leu2001Arg)
c.5948T>G (p.Leu1983Arg)
c.5840T>G (p.Leu1947Arg)
c.5903T>G (p.Leu1968Arg)
c.5873T>G (p.Leu1958Arg)
c.5945T>G (p.Leu1982Arg)
3g.38550370A>GCA352139127SCN5Ac.5999T>C (p.Leu2000Pro)
c.6002T>C (p.Leu2001Pro)
c.5948T>C (p.Leu1983Pro)
c.5840T>C (p.Leu1947Pro)
c.5903T>C (p.Leu1968Pro)
c.5873T>C (p.Leu1958Pro)
c.5945T>C (p.Leu1982Pro)
 gnomAD v4
3g.38550370A>TCA352139131SCN5Ac.5999T>A (p.Leu2000His)
c.6002T>A (p.Leu2001His)
c.5948T>A (p.Leu1983His)
c.5840T>A (p.Leu1947His)
c.5903T>A (p.Leu1968His)
c.5873T>A (p.Leu1958His)
c.5945T>A (p.Leu1982His)
3g.38550371G>ACA352139133SCN5Ac.5998C>T (p.Leu2000Phe)
c.6001C>T (p.Leu2001Phe)
c.5947C>T (p.Leu1983Phe)
c.5839C>T (p.Leu1947Phe)
c.5902C>T (p.Leu1968Phe)
c.5872C>T (p.Leu1958Phe)
c.5944C>T (p.Leu1982Phe)
 gnomAD v4
3g.38550371G>CCA352139135SCN5Ac.5998C>G (p.Leu2000Val)
c.6001C>G (p.Leu2001Val)
c.5947C>G (p.Leu1983Val)
c.5839C>G (p.Leu1947Val)
c.5902C>G (p.Leu1968Val)
c.5872C>G (p.Leu1958Val)
c.5944C>G (p.Leu1982Val)
3g.38550371G>TCA352139137SCN5Ac.5998C>A (p.Leu2000Ile)
c.6001C>A (p.Leu2001Ile)
c.5947C>A (p.Leu1983Ile)
c.5839C>A (p.Leu1947Ile)
c.5902C>A (p.Leu1968Ile)
c.5872C>A (p.Leu1958Ile)
c.5944C>A (p.Leu1982Ile)
3g.38550372A=CA1358561728SCN5Ac.5997T= (p.Asp1999=)
c.6000T= (p.Asp2000=)
c.5946T= (p.Asp1982=)
c.5838T= (p.Asp1946=)
c.5901T= (p.Asp1967=)
c.5871T= (p.Asp1957=)
c.5943T= (p.Asp1981=)
3g.38550372A>CCA352139139SCN5Ac.5997T>G (p.Asp1999Glu)
c.6000T>G (p.Asp2000Glu)
c.5946T>G (p.Asp1982Glu)
c.5838T>G (p.Asp1946Glu)
c.5901T>G (p.Asp1967Glu)
c.5871T>G (p.Asp1957Glu)
c.5943T>G (p.Asp1981Glu)
3g.38550372A>GCA065143SCN5Ac.5997T>C (p.Asp1999=)
c.6000T>C (p.Asp2000=)
c.5946T>C (p.Asp1982=)
c.5838T>C (p.Asp1946=)
c.5901T>C (p.Asp1967=)
c.5871T>C (p.Asp1957=)
c.5943T>C (p.Asp1981=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550372A>TCA352139142SCN5Ac.5997T>A (p.Asp1999Glu)
c.6000T>A (p.Asp2000Glu)
c.5946T>A (p.Asp1982Glu)
c.5838T>A (p.Asp1946Glu)
c.5901T>A (p.Asp1967Glu)
c.5871T>A (p.Asp1957Glu)
c.5943T>A (p.Asp1981Glu)
3g.38550373T>ACA352139144SCN5Ac.5996A>T (p.Asp1999Val)
c.5999A>T (p.Asp2000Val)
c.5945A>T (p.Asp1982Val)
c.5837A>T (p.Asp1946Val)
c.5900A>T (p.Asp1967Val)
c.5870A>T (p.Asp1957Val)
c.5942A>T (p.Asp1981Val)
3g.38550373T>CCA352139146SCN5Ac.5996A>G (p.Asp1999Gly)
c.5999A>G (p.Asp2000Gly)
c.5945A>G (p.Asp1982Gly)
c.5837A>G (p.Asp1946Gly)
c.5900A>G (p.Asp1967Gly)
c.5870A>G (p.Asp1957Gly)
c.5942A>G (p.Asp1981Gly)
3g.38550373T>GCA352139148SCN5Ac.5996A>C (p.Asp1999Ala)
c.5999A>C (p.Asp2000Ala)
c.5945A>C (p.Asp1982Ala)
c.5837A>C (p.Asp1946Ala)
c.5900A>C (p.Asp1967Ala)
c.5870A>C (p.Asp1957Ala)
c.5942A>C (p.Asp1981Ala)
3g.38550374C>ACA065124SCN5Ac.5995G>T (p.Asp1999Tyr)
c.5998G>T (p.Asp2000Tyr)
c.5944G>T (p.Asp1982Tyr)
c.5836G>T (p.Asp1946Tyr)
c.5899G>T (p.Asp1967Tyr)
c.5869G>T (p.Asp1957Tyr)
c.5941G>T (p.Asp1981Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550374C=CA1358561729SCN5Ac.5995G= (p.Asp1999=)
c.5998G= (p.Asp2000=)
c.5944G= (p.Asp1982=)
c.5836G= (p.Asp1946=)
c.5899G= (p.Asp1967=)
c.5869G= (p.Asp1957=)
c.5941G= (p.Asp1981=)
3g.38550374C>GCA72937652SCN5Ac.5995G>C (p.Asp1999His)
c.5998G>C (p.Asp2000His)
c.5944G>C (p.Asp1982His)
c.5836G>C (p.Asp1946His)
c.5899G>C (p.Asp1967His)
c.5869G>C (p.Asp1957His)
c.5941G>C (p.Asp1981His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38550374C>TCA352139151SCN5Ac.5995G>A (p.Asp1999Asn)
c.5998G>A (p.Asp2000Asn)
c.5944G>A (p.Asp1982Asn)
c.5836G>A (p.Asp1946Asn)
c.5899G>A (p.Asp1967Asn)
c.5869G>A (p.Asp1957Asn)
c.5941G>A (p.Asp1981Asn)
3g.38550376_38550380dupCA913188076SCN5Ac.5991_5995dup (p.Asp1999ValfsTer?)
c.5994_5998dup (p.Asp2000ValfsTer?)
c.5940_5944dup (p.Asp1982ValfsTer?)
c.5832_5836dup (p.Asp1946ValfsTer?)
c.5895_5899dup (p.Asp1967ValfsTer?)
c.5865_5869dup (p.Asp1957ValfsTer?)
c.5937_5941dup (p.Asp1981ValfsTer?)
3g.38550375T>ACA352139153SCN5Ac.5994A>T (p.Glu1998Asp)
c.5997A>T (p.Glu1999Asp)
c.5943A>T (p.Glu1981Asp)
c.5835A>T (p.Glu1945Asp)
c.5898A>T (p.Glu1966Asp)
c.5868A>T (p.Glu1956Asp)
c.5940A>T (p.Glu1980Asp)
3g.38550375T>CCA433134179SCN5Ac.5994A>G (p.Glu1998=)
c.5997A>G (p.Glu1999=)
c.5943A>G (p.Glu1981=)
c.5835A>G (p.Glu1945=)
c.5898A>G (p.Glu1966=)
c.5868A>G (p.Glu1956=)
c.5940A>G (p.Glu1980=)
 gnomAD v4
3g.38550375T>GCA352139157SCN5Ac.5994A>C (p.Glu1998Asp)
c.5997A>C (p.Glu1999Asp)
c.5943A>C (p.Glu1981Asp)
c.5835A>C (p.Glu1945Asp)
c.5898A>C (p.Glu1966Asp)
c.5868A>C (p.Glu1956Asp)
c.5940A>C (p.Glu1980Asp)
 ClinVar dbSNP
3g.38550375T=CA1358561730SCN5Ac.5994A= (p.Glu1998=)
c.5997A= (p.Glu1999=)
c.5943A= (p.Glu1981=)
c.5835A= (p.Glu1945=)
c.5898A= (p.Glu1966=)
c.5868A= (p.Glu1956=)
c.5940A= (p.Glu1980=)
3g.38550376T>ACA352139160SCN5Ac.5993A>T (p.Glu1998Val)
c.5996A>T (p.Glu1999Val)
c.5942A>T (p.Glu1981Val)
c.5834A>T (p.Glu1945Val)
c.5897A>T (p.Glu1966Val)
c.5867A>T (p.Glu1956Val)
c.5939A>T (p.Glu1980Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38550376T>CCA352139162SCN5Ac.5993A>G (p.Glu1998Gly)
c.5996A>G (p.Glu1999Gly)
c.5942A>G (p.Glu1981Gly)
c.5834A>G (p.Glu1945Gly)
c.5897A>G (p.Glu1966Gly)
c.5867A>G (p.Glu1956Gly)
c.5939A>G (p.Glu1980Gly)
3g.38550376T>GCA352139164SCN5Ac.5993A>C (p.Glu1998Ala)
c.5996A>C (p.Glu1999Ala)
c.5942A>C (p.Glu1981Ala)
c.5834A>C (p.Glu1945Ala)
c.5897A>C (p.Glu1966Ala)
c.5867A>C (p.Glu1956Ala)
c.5939A>C (p.Glu1980Ala)
3g.38550376T=CA1358561731SCN5Ac.5993A= (p.Glu1998=)
c.5996A= (p.Glu1999=)
c.5942A= (p.Glu1981=)
c.5834A= (p.Glu1945=)
c.5897A= (p.Glu1966=)
c.5867A= (p.Glu1956=)
c.5939A= (p.Glu1980=)
3g.38550377C>ACA352139166SCN5Ac.5992G>T (p.Glu1998Ter)
c.5995G>T (p.Glu1999Ter)
c.5941G>T (p.Glu1981Ter)
c.5833G>T (p.Glu1945Ter)
c.5896G>T (p.Glu1966Ter)
c.5866G>T (p.Glu1956Ter)
c.5938G>T (p.Glu1980Ter)
 dbSNP
3g.38550377C=CA1358561732SCN5Ac.5992G= (p.Glu1998=)
c.5995G= (p.Glu1999=)
c.5941G= (p.Glu1981=)
c.5833G= (p.Glu1945=)
c.5896G= (p.Glu1966=)
c.5866G= (p.Glu1956=)
c.5938G= (p.Glu1980=)
3g.38550377C>GCA352139169SCN5Ac.5992G>C (p.Glu1998Gln)
c.5995G>C (p.Glu1999Gln)
c.5941G>C (p.Glu1981Gln)
c.5833G>C (p.Glu1945Gln)
c.5896G>C (p.Glu1966Gln)
c.5866G>C (p.Glu1956Gln)
c.5938G>C (p.Glu1980Gln)
3g.38550377C>TCA352139170SCN5Ac.5992G>A (p.Glu1998Lys)
c.5995G>A (p.Glu1999Lys)
c.5941G>A (p.Glu1981Lys)
c.5833G>A (p.Glu1945Lys)
c.5896G>A (p.Glu1966Lys)
c.5866G>A (p.Glu1956Lys)
c.5938G>A (p.Glu1980Lys)
 COSMIC COSMIC COSMIC
3g.38550378A=CA1358561733SCN5Ac.5991T= (p.Ser1997=)
c.5994T= (p.Ser1998=)
c.5940T= (p.Ser1980=)
c.5832T= (p.Ser1944=)
c.5895T= (p.Ser1965=)
c.5865T= (p.Ser1955=)
c.5937T= (p.Ser1979=)
3g.38550378A>CCA352139173SCN5Ac.5991T>G (p.Ser1997Arg)
c.5994T>G (p.Ser1998Arg)
c.5940T>G (p.Ser1980Arg)
c.5832T>G (p.Ser1944Arg)
c.5895T>G (p.Ser1965Arg)
c.5865T>G (p.Ser1955Arg)
c.5937T>G (p.Ser1979Arg)
3g.38550378A>GCA16604907SCN5Ac.5991T>C (p.Ser1997=)
c.5994T>C (p.Ser1998=)
c.5940T>C (p.Ser1980=)
c.5832T>C (p.Ser1944=)
c.5895T>C (p.Ser1965=)
c.5865T>C (p.Ser1955=)
c.5937T>C (p.Ser1979=)
 ClinVar dbSNP COSMIC COSMIC COSMIC
3g.38550378A>TCA352139174SCN5Ac.5991T>A (p.Ser1997Arg)
c.5994T>A (p.Ser1998Arg)
c.5940T>A (p.Ser1980Arg)
c.5832T>A (p.Ser1944Arg)
c.5895T>A (p.Ser1965Arg)
c.5865T>A (p.Ser1955Arg)
c.5937T>A (p.Ser1979Arg)
3g.38550379C>ACA352139175SCN5Ac.5990G>T (p.Ser1997Ile)
c.5993G>T (p.Ser1998Ile)
c.5939G>T (p.Ser1980Ile)
c.5831G>T (p.Ser1944Ile)
c.5894G>T (p.Ser1965Ile)
c.5864G>T (p.Ser1955Ile)
c.5936G>T (p.Ser1979Ile)
3g.38550379C=CA1358561734SCN5Ac.5990G= (p.Ser1997=)
c.5993G= (p.Ser1998=)
c.5939G= (p.Ser1980=)
c.5831G= (p.Ser1944=)
c.5894G= (p.Ser1965=)
c.5864G= (p.Ser1955=)
c.5936G= (p.Ser1979=)
3g.38550379C>GCA352139177SCN5Ac.5990G>C (p.Ser1997Thr)
c.5993G>C (p.Ser1998Thr)
c.5939G>C (p.Ser1980Thr)
c.5831G>C (p.Ser1944Thr)
c.5894G>C (p.Ser1965Thr)
c.5864G>C (p.Ser1955Thr)
c.5936G>C (p.Ser1979Thr)
3g.38550379C>TCA352139179SCN5Ac.5990G>A (p.Ser1997Asn)
c.5993G>A (p.Ser1998Asn)
c.5939G>A (p.Ser1980Asn)
c.5831G>A (p.Ser1944Asn)
c.5894G>A (p.Ser1965Asn)
c.5864G>A (p.Ser1955Asn)
c.5936G>A (p.Ser1979Asn)
 dbSNP gnomAD v4
3g.38550380T>ACA352139182SCN5Ac.5989A>T (p.Ser1997Cys)
c.5992A>T (p.Ser1998Cys)
c.5938A>T (p.Ser1980Cys)
c.5830A>T (p.Ser1944Cys)
c.5893A>T (p.Ser1965Cys)
c.5863A>T (p.Ser1955Cys)
c.5935A>T (p.Ser1979Cys)
3g.38550380T>CCA352139184SCN5Ac.5989A>G (p.Ser1997Gly)
c.5992A>G (p.Ser1998Gly)
c.5938A>G (p.Ser1980Gly)
c.5830A>G (p.Ser1944Gly)
c.5893A>G (p.Ser1965Gly)
c.5863A>G (p.Ser1955Gly)
c.5935A>G (p.Ser1979Gly)
3g.38550380T>GCA352139181SCN5Ac.5989A>C (p.Ser1997Arg)
c.5992A>C (p.Ser1998Arg)
c.5938A>C (p.Ser1980Arg)
c.5830A>C (p.Ser1944Arg)
c.5893A>C (p.Ser1965Arg)
c.5863A>C (p.Ser1955Arg)
c.5935A>C (p.Ser1979Arg)
3g.38550381G>ACA72937655SCN5Ac.5988C>T (p.His1996=)
c.5991C>T (p.His1997=)
c.5937C>T (p.His1979=)
c.5829C>T (p.His1943=)
c.5892C>T (p.His1964=)
c.5862C>T (p.His1954=)
c.5934C>T (p.His1978=)
 dbSNP gnomAD v4
3g.38550381G>CCA352139188SCN5Ac.5988C>G (p.His1996Gln)
c.5991C>G (p.His1997Gln)
c.5937C>G (p.His1979Gln)
c.5829C>G (p.His1943Gln)
c.5892C>G (p.His1964Gln)
c.5862C>G (p.His1954Gln)
c.5934C>G (p.His1978Gln)
3g.38550381G=CA1358561735SCN5Ac.5988C= (p.His1996=)
c.5991C= (p.His1997=)
c.5937C= (p.His1979=)
c.5829C= (p.His1943=)
c.5892C= (p.His1964=)
c.5862C= (p.His1954=)
c.5934C= (p.His1978=)
3g.38550381G>TCA352139189SCN5Ac.5988C>A (p.His1996Gln)
c.5991C>A (p.His1997Gln)
c.5937C>A (p.His1979Gln)
c.5829C>A (p.His1943Gln)
c.5892C>A (p.His1964Gln)
c.5862C>A (p.His1954Gln)
c.5934C>A (p.His1978Gln)
3g.38550382T>ACA352139191SCN5Ac.5987A>T (p.His1996Leu)
c.5990A>T (p.His1997Leu)
c.5936A>T (p.His1979Leu)
c.5828A>T (p.His1943Leu)
c.5891A>T (p.His1964Leu)
c.5861A>T (p.His1954Leu)
c.5933A>T (p.His1978Leu)
3g.38550382T>CCA065118SCN5Ac.5987A>G (p.His1996Arg)
c.5990A>G (p.His1997Arg)
c.5936A>G (p.His1979Arg)
c.5828A>G (p.His1943Arg)
c.5891A>G (p.His1964Arg)
c.5861A>G (p.His1954Arg)
c.5933A>G (p.His1978Arg)
 ClinVar dbSNP ExAC gnomAD v2
3g.38550382T>GCA352139193SCN5Ac.5987A>C (p.His1996Pro)
c.5990A>C (p.His1997Pro)
c.5936A>C (p.His1979Pro)
c.5828A>C (p.His1943Pro)
c.5891A>C (p.His1964Pro)
c.5861A>C (p.His1954Pro)
c.5933A>C (p.His1978Pro)
3g.38550382T=CA1358561736SCN5Ac.5987A= (p.His1996=)
c.5990A= (p.His1997=)
c.5936A= (p.His1979=)
c.5828A= (p.His1943=)
c.5891A= (p.His1964=)
c.5861A= (p.His1954=)
c.5933A= (p.His1978=)
3g.38550383G>ACA352139196SCN5Ac.5986C>T (p.His1996Tyr)
c.5989C>T (p.His1997Tyr)
c.5935C>T (p.His1979Tyr)
c.5827C>T (p.His1943Tyr)
c.5890C>T (p.His1964Tyr)
c.5860C>T (p.His1954Tyr)
c.5932C>T (p.His1978Tyr)
 dbSNP
3g.38550383G>CCA352139197SCN5Ac.5986C>G (p.His1996Asp)
c.5989C>G (p.His1997Asp)
c.5935C>G (p.His1979Asp)
c.5827C>G (p.His1943Asp)
c.5890C>G (p.His1964Asp)
c.5860C>G (p.His1954Asp)
c.5932C>G (p.His1978Asp)
3g.38550383G=CA1358561737SCN5Ac.5986C= (p.His1996=)
c.5989C= (p.His1997=)
c.5935C= (p.His1979=)
c.5827C= (p.His1943=)
c.5890C= (p.His1964=)
c.5860C= (p.His1954=)
c.5932C= (p.His1978=)
3g.38550383G>TCA352139198SCN5Ac.5986C>A (p.His1996Asn)
c.5989C>A (p.His1997Asn)
c.5935C>A (p.His1979Asn)
c.5827C>A (p.His1943Asn)
c.5890C>A (p.His1964Asn)
c.5860C>A (p.His1954Asn)
c.5932C>A (p.His1978Asn)
 gnomAD v4
3g.38550384G>ACA065111SCN5Ac.5985C>T (p.Ser1995=)
c.5988C>T (p.Ser1996=)
c.5934C>T (p.Ser1978=)
c.5826C>T (p.Ser1942=)
c.5889C>T (p.Ser1963=)
c.5859C>T (p.Ser1953=)
c.5931C>T (p.Ser1977=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550384G>CCA352139200SCN5Ac.5985C>G (p.Ser1995Arg)
c.5988C>G (p.Ser1996Arg)
c.5934C>G (p.Ser1978Arg)
c.5826C>G (p.Ser1942Arg)
c.5889C>G (p.Ser1963Arg)
c.5859C>G (p.Ser1953Arg)
c.5931C>G (p.Ser1977Arg)
3g.38550384G=CA1358561738SCN5Ac.5985C= (p.Ser1995=)
c.5988C= (p.Ser1996=)
c.5934C= (p.Ser1978=)
c.5826C= (p.Ser1942=)
c.5889C= (p.Ser1963=)
c.5859C= (p.Ser1953=)
c.5931C= (p.Ser1977=)
3g.38550384G>TCA352139202SCN5Ac.5985C>A (p.Ser1995Arg)
c.5988C>A (p.Ser1996Arg)
c.5934C>A (p.Ser1978Arg)
c.5826C>A (p.Ser1942Arg)
c.5889C>A (p.Ser1963Arg)
c.5859C>A (p.Ser1953Arg)
c.5931C>A (p.Ser1977Arg)
 dbSNP gnomAD v2 gnomAD v4
3g.38550385C>ACA352139208SCN5Ac.5984G>T (p.Ser1995Ile)
c.5987G>T (p.Ser1996Ile)
c.5933G>T (p.Ser1978Ile)
c.5825G>T (p.Ser1942Ile)
c.5888G>T (p.Ser1963Ile)
c.5858G>T (p.Ser1953Ile)
c.5930G>T (p.Ser1977Ile)
 gnomAD v4
3g.38550385C=CA1358561739SCN5Ac.5984G= (p.Ser1995=)
c.5987G= (p.Ser1996=)
c.5933G= (p.Ser1978=)
c.5825G= (p.Ser1942=)
c.5888G= (p.Ser1963=)
c.5858G= (p.Ser1953=)
c.5930G= (p.Ser1977=)
3g.38550385C>GCA352139204SCN5Ac.5984G>C (p.Ser1995Thr)
c.5987G>C (p.Ser1996Thr)
c.5933G>C (p.Ser1978Thr)
c.5825G>C (p.Ser1942Thr)
c.5888G>C (p.Ser1963Thr)
c.5858G>C (p.Ser1953Thr)
c.5930G>C (p.Ser1977Thr)
3g.38550385C>TCA352139206SCN5Ac.5984G>A (p.Ser1995Asn)
c.5987G>A (p.Ser1996Asn)
c.5933G>A (p.Ser1978Asn)
c.5825G>A (p.Ser1942Asn)
c.5888G>A (p.Ser1963Asn)
c.5858G>A (p.Ser1953Asn)
c.5930G>A (p.Ser1977Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38550386T>ACA352139210SCN5Ac.5983A>T (p.Ser1995Cys)
c.5986A>T (p.Ser1996Cys)
c.5932A>T (p.Ser1978Cys)
c.5824A>T (p.Ser1942Cys)
c.5887A>T (p.Ser1963Cys)
c.5857A>T (p.Ser1953Cys)
c.5929A>T (p.Ser1977Cys)
3g.38550386T>CCA352139212SCN5Ac.5983A>G (p.Ser1995Gly)
c.5986A>G (p.Ser1996Gly)
c.5932A>G (p.Ser1978Gly)
c.5824A>G (p.Ser1942Gly)
c.5887A>G (p.Ser1963Gly)
c.5857A>G (p.Ser1953Gly)
c.5929A>G (p.Ser1977Gly)
3g.38550386T>GCA352139214SCN5Ac.5983A>C (p.Ser1995Arg)
c.5986A>C (p.Ser1996Arg)
c.5932A>C (p.Ser1978Arg)
c.5824A>C (p.Ser1942Arg)
c.5887A>C (p.Ser1963Arg)
c.5857A>C (p.Ser1953Arg)
c.5929A>C (p.Ser1977Arg)
3g.38550387G>ACA433134185SCN5Ac.5982C>T (p.Tyr1994=)
c.5985C>T (p.Tyr1995=)
c.5931C>T (p.Tyr1977=)
c.5823C>T (p.Tyr1941=)
c.5886C>T (p.Tyr1962=)
c.5856C>T (p.Tyr1952=)
c.5928C>T (p.Tyr1976=)
 gnomAD v4
3g.38550387G>CCA019569SCN5Ac.5982C>G (p.Tyr1994Ter)
c.5985C>G (p.Tyr1995Ter)
c.5931C>G (p.Tyr1977Ter)
c.5823C>G (p.Tyr1941Ter)
c.5886C>G (p.Tyr1962Ter)
c.5856C>G (p.Tyr1952Ter)
c.5928C>G (p.Tyr1976Ter)
 ClinVar dbSNP
3g.38550387G=CA1358561740SCN5Ac.5982C= (p.Tyr1994=)
c.5985C= (p.Tyr1995=)
c.5931C= (p.Tyr1977=)
c.5823C= (p.Tyr1941=)
c.5886C= (p.Tyr1962=)
c.5856C= (p.Tyr1952=)
c.5928C= (p.Tyr1976=)
3g.38550387G>TCA72937659SCN5Ac.5982C>A (p.Tyr1994Ter)
c.5985C>A (p.Tyr1995Ter)
c.5931C>A (p.Tyr1977Ter)
c.5823C>A (p.Tyr1941Ter)
c.5886C>A (p.Tyr1962Ter)
c.5856C>A (p.Tyr1952Ter)
c.5928C>A (p.Tyr1976Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38550388T>ACA352139217SCN5Ac.5981A>T (p.Tyr1994Phe)
c.5984A>T (p.Tyr1995Phe)
c.5930A>T (p.Tyr1977Phe)
c.5822A>T (p.Tyr1941Phe)
c.5885A>T (p.Tyr1962Phe)
c.5855A>T (p.Tyr1952Phe)
c.5927A>T (p.Tyr1976Phe)
3g.38550388T>CCA352139218SCN5Ac.5981A>G (p.Tyr1994Cys)
c.5984A>G (p.Tyr1995Cys)
c.5930A>G (p.Tyr1977Cys)
c.5822A>G (p.Tyr1941Cys)
c.5885A>G (p.Tyr1962Cys)
c.5855A>G (p.Tyr1952Cys)
c.5927A>G (p.Tyr1976Cys)
3g.38550388T>GCA352139220SCN5Ac.5981A>C (p.Tyr1994Ser)
c.5984A>C (p.Tyr1995Ser)
c.5930A>C (p.Tyr1977Ser)
c.5822A>C (p.Tyr1941Ser)
c.5885A>C (p.Tyr1962Ser)
c.5855A>C (p.Tyr1952Ser)
c.5927A>C (p.Tyr1976Ser)
 dbSNP
3g.38550388T=CA1358561741SCN5Ac.5981A= (p.Tyr1994=)
c.5984A= (p.Tyr1995=)
c.5930A= (p.Tyr1977=)
c.5822A= (p.Tyr1941=)
c.5885A= (p.Tyr1962=)
c.5855A= (p.Tyr1952=)
c.5927A= (p.Tyr1976=)
3g.38550389A>CCA352139222SCN5Ac.5980T>G (p.Tyr1994Asp)
c.5983T>G (p.Tyr1995Asp)
c.5929T>G (p.Tyr1977Asp)
c.5821T>G (p.Tyr1941Asp)
c.5884T>G (p.Tyr1962Asp)
c.5854T>G (p.Tyr1952Asp)
c.5926T>G (p.Tyr1976Asp)
3g.38550389A>GCA352139224SCN5Ac.5980T>C (p.Tyr1994His)
c.5983T>C (p.Tyr1995His)
c.5929T>C (p.Tyr1977His)
c.5821T>C (p.Tyr1941His)
c.5884T>C (p.Tyr1962His)
c.5854T>C (p.Tyr1952His)
c.5926T>C (p.Tyr1976His)
 gnomAD v4
3g.38550389A>TCA352139225SCN5Ac.5980T>A (p.Tyr1994Asn)
c.5983T>A (p.Tyr1995Asn)
c.5929T>A (p.Tyr1977Asn)
c.5821T>A (p.Tyr1941Asn)
c.5884T>A (p.Tyr1962Asn)
c.5854T>A (p.Tyr1952Asn)
c.5926T>A (p.Tyr1976Asn)
3g.38550390G>ACA433134186SCN5Ac.5979C>T (p.Asp1993=)
c.5982C>T (p.Asp1994=)
c.5928C>T (p.Asp1976=)
c.5820C>T (p.Asp1940=)
c.5883C>T (p.Asp1961=)
c.5853C>T (p.Asp1951=)
c.5925C>T (p.Asp1975=)
3g.38550390G>CCA352139227SCN5Ac.5979C>G (p.Asp1993Glu)
c.5982C>G (p.Asp1994Glu)
c.5928C>G (p.Asp1976Glu)
c.5820C>G (p.Asp1940Glu)
c.5883C>G (p.Asp1961Glu)
c.5853C>G (p.Asp1951Glu)
c.5925C>G (p.Asp1975Glu)
3g.38550390G>TCA352139229SCN5Ac.5979C>A (p.Asp1993Glu)
c.5982C>A (p.Asp1994Glu)
c.5928C>A (p.Asp1976Glu)
c.5820C>A (p.Asp1940Glu)
c.5883C>A (p.Asp1961Glu)
c.5853C>A (p.Asp1951Glu)
c.5925C>A (p.Asp1975Glu)
3g.38550391T>ACA352139233SCN5Ac.5978A>T (p.Asp1993Val)
c.5981A>T (p.Asp1994Val)
c.5927A>T (p.Asp1976Val)
c.5819A>T (p.Asp1940Val)
c.5882A>T (p.Asp1961Val)
c.5852A>T (p.Asp1951Val)
c.5924A>T (p.Asp1975Val)
3g.38550391T>CCA352139235SCN5Ac.5978A>G (p.Asp1993Gly)
c.5981A>G (p.Asp1994Gly)
c.5927A>G (p.Asp1976Gly)
c.5819A>G (p.Asp1940Gly)
c.5882A>G (p.Asp1961Gly)
c.5852A>G (p.Asp1951Gly)
c.5924A>G (p.Asp1975Gly)
 gnomAD v4
3g.38550391T>GCA352139231SCN5Ac.5978A>C (p.Asp1993Ala)
c.5981A>C (p.Asp1994Ala)
c.5927A>C (p.Asp1976Ala)
c.5819A>C (p.Asp1940Ala)
c.5882A>C (p.Asp1961Ala)
c.5852A>C (p.Asp1951Ala)
c.5924A>C (p.Asp1975Ala)
3g.38550391_38550406delCA2665106248SCN5Ac.5963_5978del (p.Gln1988ProfsTer?)
c.5966_5981del (p.Gln1989ProfsTer?)
c.5912_5927del (p.Gln1971ProfsTer?)
c.5804_5819del (p.Gln1935ProfsTer?)
c.5867_5882del (p.Gln1956ProfsTer?)
c.5837_5852del (p.Gln1946ProfsTer?)
c.5909_5924del (p.Gln1970ProfsTer?)
 gnomAD v4
3g.38550392C>ACA352139240SCN5Ac.5977G>T (p.Asp1993Tyr)
c.5980G>T (p.Asp1994Tyr)
c.5926G>T (p.Asp1976Tyr)
c.5818G>T (p.Asp1940Tyr)
c.5881G>T (p.Asp1961Tyr)
c.5851G>T (p.Asp1951Tyr)
c.5923G>T (p.Asp1975Tyr)
3g.38550392C>GCA352139237SCN5Ac.5977G>C (p.Asp1993His)
c.5980G>C (p.Asp1994His)
c.5926G>C (p.Asp1976His)
c.5818G>C (p.Asp1940His)
c.5881G>C (p.Asp1961His)
c.5851G>C (p.Asp1951His)
c.5923G>C (p.Asp1975His)
 ClinVar gnomAD v4
3g.38550392C>TCA352139239SCN5Ac.5977G>A (p.Asp1993Asn)
c.5980G>A (p.Asp1994Asn)
c.5926G>A (p.Asp1976Asn)
c.5818G>A (p.Asp1940Asn)
c.5881G>A (p.Asp1961Asn)
c.5851G>A (p.Asp1951Asn)
c.5923G>A (p.Asp1975Asn)
 gnomAD v4
3g.38550393A>CCA433134191SCN5Ac.5976T>G (p.Ser1992=)
c.5979T>G (p.Ser1993=)
c.5925T>G (p.Ser1975=)
c.5817T>G (p.Ser1939=)
c.5880T>G (p.Ser1960=)
c.5850T>G (p.Ser1950=)
c.5922T>G (p.Ser1974=)
3g.38550393A>GCA433134190SCN5Ac.5976T>C (p.Ser1992=)
c.5979T>C (p.Ser1993=)
c.5925T>C (p.Ser1975=)
c.5817T>C (p.Ser1939=)
c.5880T>C (p.Ser1960=)
c.5850T>C (p.Ser1950=)
c.5922T>C (p.Ser1974=)
 gnomAD v4
3g.38550393A>TCA433134189SCN5Ac.5976T>A (p.Ser1992=)
c.5979T>A (p.Ser1993=)
c.5925T>A (p.Ser1975=)
c.5817T>A (p.Ser1939=)
c.5880T>A (p.Ser1960=)
c.5850T>A (p.Ser1950=)
c.5922T>A (p.Ser1974=)
3g.38550394G>ACA352139242SCN5Ac.5975C>T (p.Ser1992Phe)
c.5978C>T (p.Ser1993Phe)
c.5924C>T (p.Ser1975Phe)
c.5816C>T (p.Ser1939Phe)
c.5879C>T (p.Ser1960Phe)
c.5849C>T (p.Ser1950Phe)
c.5921C>T (p.Ser1974Phe)
3g.38550394G>CCA352139243SCN5Ac.5975C>G (p.Ser1992Cys)
c.5978C>G (p.Ser1993Cys)
c.5924C>G (p.Ser1975Cys)
c.5816C>G (p.Ser1939Cys)
c.5879C>G (p.Ser1960Cys)
c.5849C>G (p.Ser1950Cys)
c.5921C>G (p.Ser1974Cys)
 ClinVar
3g.38550394G>TCA352139245SCN5Ac.5975C>A (p.Ser1992Tyr)
c.5978C>A (p.Ser1993Tyr)
c.5924C>A (p.Ser1975Tyr)
c.5816C>A (p.Ser1939Tyr)
c.5879C>A (p.Ser1960Tyr)
c.5849C>A (p.Ser1950Tyr)
c.5921C>A (p.Ser1974Tyr)
3g.38550395A=CA1358561742SCN5Ac.5974T= (p.Ser1992=)
c.5977T= (p.Ser1993=)
c.5923T= (p.Ser1975=)
c.5815T= (p.Ser1939=)
c.5878T= (p.Ser1960=)
c.5848T= (p.Ser1950=)
c.5920T= (p.Ser1974=)
3g.38550395A>CCA352139248SCN5Ac.5974T>G (p.Ser1992Ala)
c.5977T>G (p.Ser1993Ala)
c.5923T>G (p.Ser1975Ala)
c.5815T>G (p.Ser1939Ala)
c.5878T>G (p.Ser1960Ala)
c.5848T>G (p.Ser1950Ala)
c.5920T>G (p.Ser1974Ala)
3g.38550395A>GCA352139249SCN5Ac.5974T>C (p.Ser1992Pro)
c.5977T>C (p.Ser1993Pro)
c.5923T>C (p.Ser1975Pro)
c.5815T>C (p.Ser1939Pro)
c.5878T>C (p.Ser1960Pro)
c.5848T>C (p.Ser1950Pro)
c.5920T>C (p.Ser1974Pro)
 gnomAD v4
3g.38550395A>TCA352139251SCN5Ac.5974T>A (p.Ser1992Thr)
c.5977T>A (p.Ser1993Thr)
c.5923T>A (p.Ser1975Thr)
c.5815T>A (p.Ser1939Thr)
c.5878T>A (p.Ser1960Thr)
c.5848T>A (p.Ser1950Thr)
c.5920T>A (p.Ser1974Thr)
 gnomAD v4
3g.38550396C>ACA433134195SCN5Ac.5973G>T (p.Gly1991=)
c.5976G>T (p.Gly1992=)
c.5922G>T (p.Gly1974=)
c.5814G>T (p.Gly1938=)
c.5877G>T (p.Gly1959=)
c.5847G>T (p.Gly1949=)
c.5919G>T (p.Gly1973=)
 gnomAD v4
3g.38550396C=CA1358561743SCN5Ac.5973G= (p.Gly1991=)
c.5976G= (p.Gly1992=)
c.5922G= (p.Gly1974=)
c.5814G= (p.Gly1938=)
c.5877G= (p.Gly1959=)
c.5847G= (p.Gly1949=)
c.5919G= (p.Gly1973=)
3g.38550396C>GCA433134196SCN5Ac.5973G>C (p.Gly1991=)
c.5976G>C (p.Gly1992=)
c.5922G>C (p.Gly1974=)
c.5814G>C (p.Gly1938=)
c.5877G>C (p.Gly1959=)
c.5847G>C (p.Gly1949=)
c.5919G>C (p.Gly1973=)
 ClinVar dbSNP
3g.38550396C>TCA065106SCN5Ac.5973G>A (p.Gly1991=)
c.5976G>A (p.Gly1992=)
c.5922G>A (p.Gly1974=)
c.5814G>A (p.Gly1938=)
c.5877G>A (p.Gly1959=)
c.5847G>A (p.Gly1949=)
c.5919G>A (p.Gly1973=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38550400dupCA16617940SCN5Ac.5973dup (p.Ser1992ValfsTer2)
c.5976dup (p.Ser1993ValfsTer2)
c.5922dup (p.Ser1975ValfsTer2)
c.5814dup (p.Ser1939ValfsTer2)
c.5877dup (p.Ser1960ValfsTer2)
c.5847dup (p.Ser1950ValfsTer2)
c.5919dup (p.Ser1974ValfsTer2)
 ClinVar dbSNP
3g.38550397C>ACA352139253SCN5Ac.5972G>T (p.Gly1991Val)
c.5975G>T (p.Gly1992Val)
c.5921G>T (p.Gly1974Val)
c.5813G>T (p.Gly1938Val)
c.5876G>T (p.Gly1959Val)
c.5846G>T (p.Gly1949Val)
c.5918G>T (p.Gly1973Val)
 ClinVar dbSNP gnomAD v4
3g.38550397C=CA1358555669SCN5Ac.5972G= (p.Gly1991=)
c.5975G= (p.Gly1992=)
c.5921G= (p.Gly1974=)
c.5813G= (p.Gly1938=)
c.5876G= (p.Gly1959=)
c.5846G= (p.Gly1949=)
c.5918G= (p.Gly1973=)
3g.38550397C>GCA065101SCN5Ac.5972G>C (p.Gly1991Ala)
c.5975G>C (p.Gly1992Ala)
c.5921G>C (p.Gly1974Ala)
c.5813G>C (p.Gly1938Ala)
c.5876G>C (p.Gly1959Ala)
c.5846G>C (p.Gly1949Ala)
c.5918G>C (p.Gly1973Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550397C>TCA352139254SCN5Ac.5972G>A (p.Gly1991Glu)
c.5975G>A (p.Gly1992Glu)
c.5921G>A (p.Gly1974Glu)
c.5813G>A (p.Gly1938Glu)
c.5876G>A (p.Gly1959Glu)
c.5846G>A (p.Gly1949Glu)
c.5918G>A (p.Gly1973Glu)
 dbSNP
3g.38550398C>ACA352139259SCN5Ac.5971G>T (p.Gly1991Trp)
c.5974G>T (p.Gly1992Trp)
c.5920G>T (p.Gly1974Trp)
c.5812G>T (p.Gly1938Trp)
c.5875G>T (p.Gly1959Trp)
c.5845G>T (p.Gly1949Trp)
c.5917G>T (p.Gly1973Trp)
 gnomAD v4
3g.38550398C>GCA352139260SCN5Ac.5971G>C (p.Gly1991Arg)
c.5974G>C (p.Gly1992Arg)
c.5920G>C (p.Gly1974Arg)
c.5812G>C (p.Gly1938Arg)
c.5875G>C (p.Gly1959Arg)
c.5845G>C (p.Gly1949Arg)
c.5917G>C (p.Gly1973Arg)
3g.38550398C>TCA352139257SCN5Ac.5971G>A (p.Gly1991Arg)
c.5974G>A (p.Gly1992Arg)
c.5920G>A (p.Gly1974Arg)
c.5812G>A (p.Gly1938Arg)
c.5875G>A (p.Gly1959Arg)
c.5845G>A (p.Gly1949Arg)
c.5917G>A (p.Gly1973Arg)
3g.38550399C>ACA433134200SCN5Ac.5970G>T (p.Arg1990=)
c.5973G>T (p.Arg1991=)
c.5919G>T (p.Arg1973=)
c.5811G>T (p.Arg1937=)
c.5874G>T (p.Arg1958=)
c.5844G>T (p.Arg1948=)
c.5916G>T (p.Arg1972=)
3g.38550399C>GCA433134201SCN5Ac.5970G>C (p.Arg1990=)
c.5973G>C (p.Arg1991=)
c.5919G>C (p.Arg1973=)
c.5811G>C (p.Arg1937=)
c.5874G>C (p.Arg1958=)
c.5844G>C (p.Arg1948=)
c.5916G>C (p.Arg1972=)
3g.38550399C>TCA433134202SCN5Ac.5970G>A (p.Arg1990=)
c.5973G>A (p.Arg1991=)
c.5919G>A (p.Arg1973=)
c.5811G>A (p.Arg1937=)
c.5874G>A (p.Arg1958=)
c.5844G>A (p.Arg1948=)
c.5916G>A (p.Arg1972=)
3g.38550400C>ACA352139262SCN5Ac.5969G>T (p.Arg1990Leu)
c.5972G>T (p.Arg1991Leu)
c.5918G>T (p.Arg1973Leu)
c.5810G>T (p.Arg1937Leu)
c.5873G>T (p.Arg1958Leu)
c.5843G>T (p.Arg1948Leu)
c.5915G>T (p.Arg1972Leu)
 gnomAD v4
3g.38550400C=CA1358555678SCN5Ac.5969G= (p.Arg1990=)
c.5972G= (p.Arg1991=)
c.5918G= (p.Arg1973=)
c.5810G= (p.Arg1937=)
c.5873G= (p.Arg1958=)
c.5843G= (p.Arg1948=)
c.5915G= (p.Arg1972=)
3g.38550400C>GCA352139263SCN5Ac.5969G>C (p.Arg1990Pro)
c.5972G>C (p.Arg1991Pro)
c.5918G>C (p.Arg1973Pro)
c.5810G>C (p.Arg1937Pro)
c.5873G>C (p.Arg1958Pro)
c.5843G>C (p.Arg1948Pro)
c.5915G>C (p.Arg1972Pro)
3g.38550400C>TCA019564SCN5Ac.5969G>A (p.Arg1990Gln)
c.5972G>A (p.Arg1991Gln)
c.5918G>A (p.Arg1973Gln)
c.5810G>A (p.Arg1937Gln)
c.5873G>A (p.Arg1958Gln)
c.5843G>A (p.Arg1948Gln)
c.5915G>A (p.Arg1972Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38550401G>ACA065094SCN5Ac.5968C>T (p.Arg1990Trp)
c.5971C>T (p.Arg1991Trp)
c.5917C>T (p.Arg1973Trp)
c.5809C>T (p.Arg1937Trp)
c.5872C>T (p.Arg1958Trp)
c.5842C>T (p.Arg1948Trp)
c.5914C>T (p.Arg1972Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38550401G>CCA352139266SCN5Ac.5968C>G (p.Arg1990Gly)
c.5971C>G (p.Arg1991Gly)
c.5917C>G (p.Arg1973Gly)
c.5809C>G (p.Arg1937Gly)
c.5872C>G (p.Arg1958Gly)
c.5842C>G (p.Arg1948Gly)
c.5914C>G (p.Arg1972Gly)
3g.38550401G=CA1358555684SCN5Ac.5968C= (p.Arg1990=)
c.5971C= (p.Arg1991=)
c.5917C= (p.Arg1973=)
c.5809C= (p.Arg1937=)
c.5872C= (p.Arg1958=)
c.5842C= (p.Arg1948=)
c.5914C= (p.Arg1972=)
3g.38550401G>TCA433134205SCN5Ac.5968C>A (p.Arg1990=)
c.5971C>A (p.Arg1991=)
c.5917C>A (p.Arg1973=)
c.5809C>A (p.Arg1937=)
c.5872C>A (p.Arg1958=)
c.5842C>A (p.Arg1948=)
c.5914C>A (p.Arg1972=)
 gnomAD v4
3g.38550402C>ACA433134206SCN5Ac.5967G>T (p.Val1989=)
c.5970G>T (p.Val1990=)
c.5916G>T (p.Val1972=)
c.5808G>T (p.Val1936=)
c.5871G>T (p.Val1957=)
c.5841G>T (p.Val1947=)
c.5913G>T (p.Val1971=)
 gnomAD v4
3g.38550402C>GCA433134207SCN5Ac.5967G>C (p.Val1989=)
c.5970G>C (p.Val1990=)
c.5916G>C (p.Val1972=)
c.5808G>C (p.Val1936=)
c.5871G>C (p.Val1957=)
c.5841G>C (p.Val1947=)
c.5913G>C (p.Val1971=)
3g.38550402C>TCA433134208SCN5Ac.5967G>A (p.Val1989=)
c.5970G>A (p.Val1990=)
c.5916G>A (p.Val1972=)
c.5808G>A (p.Val1936=)
c.5871G>A (p.Val1957=)
c.5841G>A (p.Val1947=)
c.5913G>A (p.Val1971=)
3g.38550403A>CCA352139271SCN5Ac.5966T>G (p.Val1989Gly)
c.5969T>G (p.Val1990Gly)
c.5915T>G (p.Val1972Gly)
c.5807T>G (p.Val1936Gly)
c.5870T>G (p.Val1957Gly)
c.5840T>G (p.Val1947Gly)
c.5912T>G (p.Val1971Gly)
3g.38550403A>GCA352139268SCN5Ac.5966T>C (p.Val1989Ala)
c.5969T>C (p.Val1990Ala)
c.5915T>C (p.Val1972Ala)
c.5807T>C (p.Val1936Ala)
c.5870T>C (p.Val1957Ala)
c.5840T>C (p.Val1947Ala)
c.5912T>C (p.Val1971Ala)
3g.38550403A>TCA352139269SCN5Ac.5966T>A (p.Val1989Glu)
c.5969T>A (p.Val1990Glu)
c.5915T>A (p.Val1972Glu)
c.5807T>A (p.Val1936Glu)
c.5870T>A (p.Val1957Glu)
c.5840T>A (p.Val1947Glu)
c.5912T>A (p.Val1971Glu)
 gnomAD v4
3g.38550404C>ACA352139273SCN5Ac.5965G>T (p.Val1989Leu)
c.5968G>T (p.Val1990Leu)
c.5914G>T (p.Val1972Leu)
c.5806G>T (p.Val1936Leu)
c.5869G>T (p.Val1957Leu)
c.5839G>T (p.Val1947Leu)
c.5911G>T (p.Val1971Leu)
3g.38550404C=CA1358555688SCN5Ac.5965G= (p.Val1989=)
c.5968G= (p.Val1990=)
c.5914G= (p.Val1972=)
c.5806G= (p.Val1936=)
c.5869G= (p.Val1957=)
c.5839G= (p.Val1947=)
c.5911G= (p.Val1971=)
3g.38550404C>GCA065087SCN5Ac.5965G>C (p.Val1989Leu)
c.5968G>C (p.Val1990Leu)
c.5914G>C (p.Val1972Leu)
c.5806G>C (p.Val1936Leu)
c.5869G>C (p.Val1957Leu)
c.5839G>C (p.Val1947Leu)
c.5911G>C (p.Val1971Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550404C>TCA065080SCN5Ac.5965G>A (p.Val1989Met)
c.5968G>A (p.Val1990Met)
c.5914G>A (p.Val1972Met)
c.5806G>A (p.Val1936Met)
c.5869G>A (p.Val1957Met)
c.5839G>A (p.Val1947Met)
c.5911G>A (p.Val1971Met)
 dbSNP ExAC gnomAD v2
3g.38550405C>ACA352139276SCN5Ac.5964G>T (p.Gln1988His)
c.5967G>T (p.Gln1989His)
c.5913G>T (p.Gln1971His)
c.5805G>T (p.Gln1935His)
c.5868G>T (p.Gln1956His)
c.5838G>T (p.Gln1946His)
c.5910G>T (p.Gln1970His)
 gnomAD v4
3g.38550405C>GCA352139277SCN5Ac.5964G>C (p.Gln1988His)
c.5967G>C (p.Gln1989His)
c.5913G>C (p.Gln1971His)
c.5805G>C (p.Gln1935His)
c.5868G>C (p.Gln1956His)
c.5838G>C (p.Gln1946His)
c.5910G>C (p.Gln1970His)
3g.38550405C>TCA433331402SCN5Ac.5964G>A (p.Gln1988=)
c.5967G>A (p.Gln1989=)
c.5913G>A (p.Gln1971=)
c.5805G>A (p.Gln1935=)
c.5868G>A (p.Gln1956=)
c.5838G>A (p.Gln1946=)
c.5910G>A (p.Gln1970=)
 gnomAD v4
3g.38550406T>ACA352139283SCN5Ac.5963A>T (p.Gln1988Leu)
c.5966A>T (p.Gln1989Leu)
c.5912A>T (p.Gln1971Leu)
c.5804A>T (p.Gln1935Leu)
c.5867A>T (p.Gln1956Leu)
c.5837A>T (p.Gln1946Leu)
c.5909A>T (p.Gln1970Leu)
3g.38550406T>CCA72937666SCN5Ac.5963A>G (p.Gln1988Arg)
c.5966A>G (p.Gln1989Arg)
c.5912A>G (p.Gln1971Arg)
c.5804A>G (p.Gln1935Arg)
c.5867A>G (p.Gln1956Arg)
c.5837A>G (p.Gln1946Arg)
c.5909A>G (p.Gln1970Arg)
 dbSNP gnomAD v4
3g.38550406T>GCA352139280SCN5Ac.5963A>C (p.Gln1988Pro)
c.5966A>C (p.Gln1989Pro)
c.5912A>C (p.Gln1971Pro)
c.5804A>C (p.Gln1935Pro)
c.5867A>C (p.Gln1956Pro)
c.5837A>C (p.Gln1946Pro)
c.5909A>C (p.Gln1970Pro)
3g.38550406T=CA1358555691SCN5Ac.5963A= (p.Gln1988=)
c.5966A= (p.Gln1989=)
c.5912A= (p.Gln1971=)
c.5804A= (p.Gln1935=)
c.5867A= (p.Gln1956=)
c.5837A= (p.Gln1946=)
c.5909A= (p.Gln1970=)
3g.38550407G>ACA352139285SCN5Ac.5962C>T (p.Gln1988Ter)
c.5965C>T (p.Gln1989Ter)
c.5911C>T (p.Gln1971Ter)
c.5803C>T (p.Gln1935Ter)
c.5866C>T (p.Gln1956Ter)
c.5836C>T (p.Gln1946Ter)
c.5908C>T (p.Gln1970Ter)
 ClinVar dbSNP gnomAD v4
3g.38550407G>CCA352139287SCN5Ac.5962C>G (p.Gln1988Glu)
c.5965C>G (p.Gln1989Glu)
c.5911C>G (p.Gln1971Glu)
c.5803C>G (p.Gln1935Glu)
c.5866C>G (p.Gln1956Glu)
c.5836C>G (p.Gln1946Glu)
c.5908C>G (p.Gln1970Glu)
 gnomAD v4
3g.38550407G>TCA352139288SCN5Ac.5962C>A (p.Gln1988Lys)
c.5965C>A (p.Gln1989Lys)
c.5911C>A (p.Gln1971Lys)
c.5803C>A (p.Gln1935Lys)
c.5866C>A (p.Gln1956Lys)
c.5836C>A (p.Gln1946Lys)
c.5908C>A (p.Gln1970Lys)
3g.38550408G>ACA065073SCN5Ac.5961C>T (p.Leu1987=)
c.5964C>T (p.Leu1988=)
c.5910C>T (p.Leu1970=)
c.5802C>T (p.Leu1934=)
c.5865C>T (p.Leu1955=)
c.5835C>T (p.Leu1945=)
c.5907C>T (p.Leu1969=)
 dbSNP ExAC gnomAD v2
3g.38550408G>CCA433331405SCN5Ac.5961C>G (p.Leu1987=)
c.5964C>G (p.Leu1988=)
c.5910C>G (p.Leu1970=)
c.5802C>G (p.Leu1934=)
c.5865C>G (p.Leu1955=)
c.5835C>G (p.Leu1945=)
c.5907C>G (p.Leu1969=)
3g.38550408G=CA1358555695SCN5Ac.5961C= (p.Leu1987=)
c.5964C= (p.Leu1988=)
c.5910C= (p.Leu1970=)
c.5802C= (p.Leu1934=)
c.5865C= (p.Leu1955=)
c.5835C= (p.Leu1945=)
c.5907C= (p.Leu1969=)
3g.38550408G>TCA433331406SCN5Ac.5961C>A (p.Leu1987=)
c.5964C>A (p.Leu1988=)
c.5910C>A (p.Leu1970=)
c.5802C>A (p.Leu1934=)
c.5865C>A (p.Leu1955=)
c.5835C>A (p.Leu1945=)
c.5907C>A (p.Leu1969=)
3g.38550409delCA2665106293SCN5Ac.5960del (p.Leu1987ProfsTer?)
c.5963del (p.Leu1988ProfsTer?)
c.5909del (p.Leu1970ProfsTer?)
c.5801del (p.Leu1934ProfsTer?)
c.5864del (p.Leu1955ProfsTer?)
c.5834del (p.Leu1945ProfsTer?)
c.5906del (p.Leu1969ProfsTer?)
 gnomAD v4
3g.38550409A=CA1358555699SCN5Ac.5960T= (p.Leu1987=)
c.5963T= (p.Leu1988=)
c.5909T= (p.Leu1970=)
c.5801T= (p.Leu1934=)
c.5864T= (p.Leu1955=)
c.5834T= (p.Leu1945=)
c.5906T= (p.Leu1969=)
3g.38550409A>CCA019559SCN5Ac.5960T>G (p.Leu1987Arg)
c.5963T>G (p.Leu1988Arg)
c.5909T>G (p.Leu1970Arg)
c.5801T>G (p.Leu1934Arg)
c.5864T>G (p.Leu1955Arg)
c.5834T>G (p.Leu1945Arg)
c.5906T>G (p.Leu1969Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550409A>GCA352139290SCN5Ac.5960T>C (p.Leu1987Pro)
c.5963T>C (p.Leu1988Pro)
c.5909T>C (p.Leu1970Pro)
c.5801T>C (p.Leu1934Pro)
c.5864T>C (p.Leu1955Pro)
c.5834T>C (p.Leu1945Pro)
c.5906T>C (p.Leu1969Pro)
 ClinVar gnomAD v4
3g.38550409A>TCA352139293SCN5Ac.5960T>A (p.Leu1987His)
c.5963T>A (p.Leu1988His)
c.5909T>A (p.Leu1970His)
c.5801T>A (p.Leu1934His)
c.5864T>A (p.Leu1955His)
c.5834T>A (p.Leu1945His)
c.5906T>A (p.Leu1969His)
 gnomAD v4
3g.38550410G>ACA352139295SCN5Ac.5959C>T (p.Leu1987Phe)
c.5962C>T (p.Leu1988Phe)
c.5908C>T (p.Leu1970Phe)
c.5800C>T (p.Leu1934Phe)
c.5863C>T (p.Leu1955Phe)
c.5833C>T (p.Leu1945Phe)
c.5905C>T (p.Leu1969Phe)
 gnomAD v4
3g.38550410G>CCA352139296SCN5Ac.5959C>G (p.Leu1987Val)
c.5962C>G (p.Leu1988Val)
c.5908C>G (p.Leu1970Val)
c.5800C>G (p.Leu1934Val)
c.5863C>G (p.Leu1955Val)
c.5833C>G (p.Leu1945Val)
c.5905C>G (p.Leu1969Val)
3g.38550410G>TCA352139299SCN5Ac.5959C>A (p.Leu1987Ile)
c.5962C>A (p.Leu1988Ile)
c.5908C>A (p.Leu1970Ile)
c.5800C>A (p.Leu1934Ile)
c.5863C>A (p.Leu1955Ile)
c.5833C>A (p.Leu1945Ile)
c.5905C>A (p.Leu1969Ile)
3g.38550411G>ACA433331407SCN5Ac.5958C>T (p.Asn1986=)
c.5961C>T (p.Asn1987=)
c.5907C>T (p.Asn1969=)
c.5799C>T (p.Asn1933=)
c.5862C>T (p.Asn1954=)
c.5832C>T (p.Asn1944=)
c.5904C>T (p.Asn1968=)
3g.38550411G>CCA352139301SCN5Ac.5958C>G (p.Asn1986Lys)
c.5961C>G (p.Asn1987Lys)
c.5907C>G (p.Asn1969Lys)
c.5799C>G (p.Asn1933Lys)
c.5862C>G (p.Asn1954Lys)
c.5832C>G (p.Asn1944Lys)
c.5904C>G (p.Asn1968Lys)
3g.38550411G=CA1358555706SCN5Ac.5958C= (p.Asn1986=)
c.5961C= (p.Asn1987=)
c.5907C= (p.Asn1969=)
c.5799C= (p.Asn1933=)
c.5862C= (p.Asn1954=)
c.5832C= (p.Asn1944=)
c.5904C= (p.Asn1968=)
3g.38550411G>TCA019555SCN5Ac.5958C>A (p.Asn1986Lys)
c.5961C>A (p.Asn1987Lys)
c.5907C>A (p.Asn1969Lys)
c.5799C>A (p.Asn1933Lys)
c.5862C>A (p.Asn1954Lys)
c.5832C>A (p.Asn1944Lys)
c.5904C>A (p.Asn1968Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550412T>ACA352139306SCN5Ac.5957A>T (p.Asn1986Ile)
c.5960A>T (p.Asn1987Ile)
c.5906A>T (p.Asn1969Ile)
c.5798A>T (p.Asn1933Ile)
c.5861A>T (p.Asn1954Ile)
c.5831A>T (p.Asn1944Ile)
c.5903A>T (p.Asn1968Ile)
 COSMIC COSMIC COSMIC
3g.38550412T>CCA352139307SCN5Ac.5957A>G (p.Asn1986Ser)
c.5960A>G (p.Asn1987Ser)
c.5906A>G (p.Asn1969Ser)
c.5798A>G (p.Asn1933Ser)
c.5861A>G (p.Asn1954Ser)
c.5831A>G (p.Asn1944Ser)
c.5903A>G (p.Asn1968Ser)
3g.38550412T>GCA352139304SCN5Ac.5957A>C (p.Asn1986Thr)
c.5960A>C (p.Asn1987Thr)
c.5906A>C (p.Asn1969Thr)
c.5798A>C (p.Asn1933Thr)
c.5861A>C (p.Asn1954Thr)
c.5831A>C (p.Asn1944Thr)
c.5903A>C (p.Asn1968Thr)
 gnomAD v4
3g.38550413T>ACA352139310SCN5Ac.5956A>T (p.Asn1986Tyr)
c.5959A>T (p.Asn1987Tyr)
c.5905A>T (p.Asn1969Tyr)
c.5797A>T (p.Asn1933Tyr)
c.5860A>T (p.Asn1954Tyr)
c.5830A>T (p.Asn1944Tyr)
c.5902A>T (p.Asn1968Tyr)
3g.38550413T>CCA352139312SCN5Ac.5956A>G (p.Asn1986Asp)
c.5959A>G (p.Asn1987Asp)
c.5905A>G (p.Asn1969Asp)
c.5797A>G (p.Asn1933Asp)
c.5860A>G (p.Asn1954Asp)
c.5830A>G (p.Asn1944Asp)
c.5902A>G (p.Asn1968Asp)
 dbSNP
3g.38550413T>GCA352139313SCN5Ac.5956A>C (p.Asn1986His)
c.5959A>C (p.Asn1987His)
c.5905A>C (p.Asn1969His)
c.5797A>C (p.Asn1933His)
c.5860A>C (p.Asn1954His)
c.5830A>C (p.Asn1944His)
c.5902A>C (p.Asn1968His)
3g.38550413T=CA1358555709SCN5Ac.5956A= (p.Asn1986=)
c.5959A= (p.Asn1987=)
c.5905A= (p.Asn1969=)
c.5797A= (p.Asn1933=)
c.5860A= (p.Asn1954=)
c.5830A= (p.Asn1944=)
c.5902A= (p.Asn1968=)
3g.38550414A>CCA352139315SCN5Ac.5955T>G (p.Asp1985Glu)
c.5958T>G (p.Asp1986Glu)
c.5904T>G (p.Asp1968Glu)
c.5796T>G (p.Asp1932Glu)
c.5859T>G (p.Asp1953Glu)
c.5829T>G (p.Asp1943Glu)
c.5901T>G (p.Asp1967Glu)
3g.38550414A>GCA433331408SCN5Ac.5955T>C (p.Asp1985=)
c.5958T>C (p.Asp1986=)
c.5904T>C (p.Asp1968=)
c.5796T>C (p.Asp1932=)
c.5859T>C (p.Asp1953=)
c.5829T>C (p.Asp1943=)
c.5901T>C (p.Asp1967=)
3g.38550414A>TCA352139317SCN5Ac.5955T>A (p.Asp1985Glu)
c.5958T>A (p.Asp1986Glu)
c.5904T>A (p.Asp1968Glu)
c.5796T>A (p.Asp1932Glu)
c.5859T>A (p.Asp1953Glu)
c.5829T>A (p.Asp1943Glu)
c.5901T>A (p.Asp1967Glu)
3g.38550414_38550416dupCA2697550800SCN5Ac.5953_5955dup (p.Asp1985_Asn1986insAsp)
c.5956_5958dup (p.Asp1986_Asn1987insAsp)
c.5902_5904dup (p.Asp1968_Asn1969insAsp)
c.5794_5796dup (p.Asp1932_Asn1933insAsp)
c.5857_5859dup (p.Asp1953_Asn1954insAsp)
c.5827_5829dup (p.Asp1943_Asn1944insAsp)
c.5899_5901dup (p.Asp1967_Asn1968insAsp)
 ClinVar
3g.38550415T>ACA352139321SCN5Ac.5954A>T (p.Asp1985Val)
c.5957A>T (p.Asp1986Val)
c.5903A>T (p.Asp1968Val)
c.5795A>T (p.Asp1932Val)
c.5858A>T (p.Asp1953Val)
c.5828A>T (p.Asp1943Val)
c.5900A>T (p.Asp1967Val)
3g.38550415T>CCA72937670SCN5Ac.5954A>G (p.Asp1985Gly)
c.5957A>G (p.Asp1986Gly)
c.5903A>G (p.Asp1968Gly)
c.5795A>G (p.Asp1932Gly)
c.5858A>G (p.Asp1953Gly)
c.5828A>G (p.Asp1943Gly)
c.5900A>G (p.Asp1967Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38550415T>GCA352139319SCN5Ac.5954A>C (p.Asp1985Ala)
c.5957A>C (p.Asp1986Ala)
c.5903A>C (p.Asp1968Ala)
c.5795A>C (p.Asp1932Ala)
c.5858A>C (p.Asp1953Ala)
c.5828A>C (p.Asp1943Ala)
c.5900A>C (p.Asp1967Ala)
3g.38550415T=CA1358555711SCN5Ac.5954A= (p.Asp1985=)
c.5957A= (p.Asp1986=)
c.5903A= (p.Asp1968=)
c.5795A= (p.Asp1932=)
c.5858A= (p.Asp1953=)
c.5828A= (p.Asp1943=)
c.5900A= (p.Asp1967=)
3g.38550416C>ACA352139323SCN5Ac.5953G>T (p.Asp1985Tyr)
c.5956G>T (p.Asp1986Tyr)
c.5902G>T (p.Asp1968Tyr)
c.5794G>T (p.Asp1932Tyr)
c.5857G>T (p.Asp1953Tyr)
c.5827G>T (p.Asp1943Tyr)
c.5899G>T (p.Asp1967Tyr)
 gnomAD v4
3g.38550416C=CA1358555712SCN5Ac.5953G= (p.Asp1985=)
c.5956G= (p.Asp1986=)
c.5902G= (p.Asp1968=)
c.5794G= (p.Asp1932=)
c.5857G= (p.Asp1953=)
c.5827G= (p.Asp1943=)
c.5899G= (p.Asp1967=)
3g.38550416C>GCA352139327SCN5Ac.5953G>C (p.Asp1985His)
c.5956G>C (p.Asp1986His)
c.5902G>C (p.Asp1968His)
c.5794G>C (p.Asp1932His)
c.5857G>C (p.Asp1953His)
c.5827G>C (p.Asp1943His)
c.5899G>C (p.Asp1967His)
3g.38550416C>TCA065059SCN5Ac.5953G>A (p.Asp1985Asn)
c.5956G>A (p.Asp1986Asn)
c.5902G>A (p.Asp1968Asn)
c.5794G>A (p.Asp1932Asn)
c.5857G>A (p.Asp1953Asn)
c.5827G>A (p.Asp1943Asn)
c.5899G>A (p.Asp1967Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
3g.38550417G>ACA72937672SCN5Ac.5952C>T (p.Ser1984=)
c.5955C>T (p.Ser1985=)
c.5901C>T (p.Ser1967=)
c.5793C>T (p.Ser1931=)
c.5856C>T (p.Ser1952=)
c.5826C>T (p.Ser1942=)
c.5898C>T (p.Ser1966=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38550417G>CCA352139329SCN5Ac.5952C>G (p.Ser1984Arg)
c.5955C>G (p.Ser1985Arg)
c.5901C>G (p.Ser1967Arg)
c.5793C>G (p.Ser1931Arg)
c.5856C>G (p.Ser1952Arg)
c.5826C>G (p.Ser1942Arg)
c.5898C>G (p.Ser1966Arg)
 gnomAD v4
3g.38550417G=CA1358555718SCN5Ac.5952C= (p.Ser1984=)
c.5955C= (p.Ser1985=)
c.5901C= (p.Ser1967=)
c.5793C= (p.Ser1931=)
c.5856C= (p.Ser1952=)
c.5826C= (p.Ser1942=)
c.5898C= (p.Ser1966=)
3g.38550417G>TCA352139331SCN5Ac.5952C>A (p.Ser1984Arg)
c.5955C>A (p.Ser1985Arg)
c.5901C>A (p.Ser1967Arg)
c.5793C>A (p.Ser1931Arg)
c.5856C>A (p.Ser1952Arg)
c.5826C>A (p.Ser1942Arg)
c.5898C>A (p.Ser1966Arg)
 dbSNP gnomAD v2 gnomAD v4
3g.38550418C>ACA352139333SCN5Ac.5951G>T (p.Ser1984Ile)
c.5954G>T (p.Ser1985Ile)
c.5900G>T (p.Ser1967Ile)
c.5792G>T (p.Ser1931Ile)
c.5855G>T (p.Ser1952Ile)
c.5825G>T (p.Ser1942Ile)
c.5897G>T (p.Ser1966Ile)
 gnomAD v4
3g.38550418C>GCA352139337SCN5Ac.5951G>C (p.Ser1984Thr)
c.5954G>C (p.Ser1985Thr)
c.5900G>C (p.Ser1967Thr)
c.5792G>C (p.Ser1931Thr)
c.5855G>C (p.Ser1952Thr)
c.5825G>C (p.Ser1942Thr)
c.5897G>C (p.Ser1966Thr)
3g.38550418C>TCA352139335SCN5Ac.5951G>A (p.Ser1984Asn)
c.5954G>A (p.Ser1985Asn)
c.5900G>A (p.Ser1967Asn)
c.5792G>A (p.Ser1931Asn)
c.5855G>A (p.Ser1952Asn)
c.5825G>A (p.Ser1942Asn)
c.5897G>A (p.Ser1966Asn)
 gnomAD v4
3g.38550419T>ACA352139339SCN5Ac.5950A>T (p.Ser1984Cys)
c.5953A>T (p.Ser1985Cys)
c.5899A>T (p.Ser1967Cys)
c.5791A>T (p.Ser1931Cys)
c.5854A>T (p.Ser1952Cys)
c.5824A>T (p.Ser1942Cys)
c.5896A>T (p.Ser1966Cys)
3g.38550419T>CCA352139342SCN5Ac.5950A>G (p.Ser1984Gly)
c.5953A>G (p.Ser1985Gly)
c.5899A>G (p.Ser1967Gly)
c.5791A>G (p.Ser1931Gly)
c.5854A>G (p.Ser1952Gly)
c.5824A>G (p.Ser1942Gly)
c.5896A>G (p.Ser1966Gly)
 gnomAD v4
3g.38550419T>GCA352139341SCN5Ac.5950A>C (p.Ser1984Arg)
c.5953A>C (p.Ser1985Arg)
c.5899A>C (p.Ser1967Arg)
c.5791A>C (p.Ser1931Arg)
c.5854A>C (p.Ser1952Arg)
c.5824A>C (p.Ser1942Arg)
c.5896A>C (p.Ser1966Arg)
3g.38550420G>ACA433331409SCN5Ac.5949C>T (p.Thr1983=)
c.5952C>T (p.Thr1984=)
c.5898C>T (p.Thr1966=)
c.5790C>T (p.Thr1930=)
c.5853C>T (p.Thr1951=)
c.5823C>T (p.Thr1941=)
c.5895C>T (p.Thr1965=)
 gnomAD v4
3g.38550420G>CCA433331410SCN5Ac.5949C>G (p.Thr1983=)
c.5952C>G (p.Thr1984=)
c.5898C>G (p.Thr1966=)
c.5790C>G (p.Thr1930=)
c.5853C>G (p.Thr1951=)
c.5823C>G (p.Thr1941=)
c.5895C>G (p.Thr1965=)
3g.38550420G>TCA433331411SCN5Ac.5949C>A (p.Thr1983=)
c.5952C>A (p.Thr1984=)
c.5898C>A (p.Thr1966=)
c.5790C>A (p.Thr1930=)
c.5853C>A (p.Thr1951=)
c.5823C>A (p.Thr1941=)
c.5895C>A (p.Thr1965=)
 gnomAD v4
3g.38550421G>ACA065054SCN5Ac.5948C>T (p.Thr1983Ile)
c.5951C>T (p.Thr1984Ile)
c.5897C>T (p.Thr1966Ile)
c.5789C>T (p.Thr1930Ile)
c.5852C>T (p.Thr1951Ile)
c.5822C>T (p.Thr1941Ile)
c.5894C>T (p.Thr1965Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38550421G>CCA352139347SCN5Ac.5948C>G (p.Thr1983Ser)
c.5951C>G (p.Thr1984Ser)
c.5897C>G (p.Thr1966Ser)
c.5789C>G (p.Thr1930Ser)
c.5852C>G (p.Thr1951Ser)
c.5822C>G (p.Thr1941Ser)
c.5894C>G (p.Thr1965Ser)
3g.38550421G=CA1358555724SCN5Ac.5948C= (p.Thr1983=)
c.5951C= (p.Thr1984=)
c.5897C= (p.Thr1966=)
c.5789C= (p.Thr1930=)
c.5852C= (p.Thr1951=)
c.5822C= (p.Thr1941=)
c.5894C= (p.Thr1965=)
3g.38550421G>TCA352139345SCN5Ac.5948C>A (p.Thr1983Asn)
c.5951C>A (p.Thr1984Asn)
c.5897C>A (p.Thr1966Asn)
c.5789C>A (p.Thr1930Asn)
c.5852C>A (p.Thr1951Asn)
c.5822C>A (p.Thr1941Asn)
c.5894C>A (p.Thr1965Asn)
3g.38550422T>ACA352139349SCN5Ac.5947A>T (p.Thr1983Ser)
c.5950A>T (p.Thr1984Ser)
c.5896A>T (p.Thr1966Ser)
c.5788A>T (p.Thr1930Ser)
c.5851A>T (p.Thr1951Ser)
c.5821A>T (p.Thr1941Ser)
c.5893A>T (p.Thr1965Ser)
3g.38550422T>CCA352139351SCN5Ac.5947A>G (p.Thr1983Ala)
c.5950A>G (p.Thr1984Ala)
c.5896A>G (p.Thr1966Ala)
c.5788A>G (p.Thr1930Ala)
c.5851A>G (p.Thr1951Ala)
c.5821A>G (p.Thr1941Ala)
c.5893A>G (p.Thr1965Ala)
3g.38550422T>GCA352139350SCN5Ac.5947A>C (p.Thr1983Pro)
c.5950A>C (p.Thr1984Pro)
c.5896A>C (p.Thr1966Pro)
c.5788A>C (p.Thr1930Pro)
c.5851A>C (p.Thr1951Pro)
c.5821A>C (p.Thr1941Pro)
c.5893A>C (p.Thr1965Pro)
3g.38550423G>ACA019551SCN5Ac.5946C>T (p.Ala1982=)
c.5949C>T (p.Ala1983=)
c.5895C>T (p.Ala1965=)
c.5787C>T (p.Ala1929=)
c.5850C>T (p.Ala1950=)
c.5820C>T (p.Ala1940=)
c.5892C>T (p.Ala1964=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550423G>CCA433331412SCN5Ac.5946C>G (p.Ala1982=)
c.5949C>G (p.Ala1983=)
c.5895C>G (p.Ala1965=)
c.5787C>G (p.Ala1929=)
c.5850C>G (p.Ala1950=)
c.5820C>G (p.Ala1940=)
c.5892C>G (p.Ala1964=)
3g.38550423G=CA1358555727SCN5Ac.5946C= (p.Ala1982=)
c.5949C= (p.Ala1983=)
c.5895C= (p.Ala1965=)
c.5787C= (p.Ala1929=)
c.5850C= (p.Ala1950=)
c.5820C= (p.Ala1940=)
c.5892C= (p.Ala1964=)
3g.38550423G>TCA433331413SCN5Ac.5946C>A (p.Ala1982=)
c.5949C>A (p.Ala1983=)
c.5895C>A (p.Ala1965=)
c.5787C>A (p.Ala1929=)
c.5850C>A (p.Ala1950=)
c.5820C>A (p.Ala1940=)
c.5892C>A (p.Ala1964=)

Number of alleles fetched