Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
3g.38550424G>ACA065041SCN5Ac.5945C>T (p.Ala1982Val)
c.5948C>T (p.Ala1983Val)
c.5894C>T (p.Ala1965Val)
c.5786C>T (p.Ala1929Val)
c.5849C>T (p.Ala1950Val)
c.5819C>T (p.Ala1940Val)
c.5891C>T (p.Ala1964Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38550424G>CCA352139353SCN5Ac.5945C>G (p.Ala1982Gly)
c.5948C>G (p.Ala1983Gly)
c.5894C>G (p.Ala1965Gly)
c.5786C>G (p.Ala1929Gly)
c.5849C>G (p.Ala1950Gly)
c.5819C>G (p.Ala1940Gly)
c.5891C>G (p.Ala1964Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38550424G=CA1358555734SCN5Ac.5945C= (p.Ala1982=)
c.5948C= (p.Ala1983=)
c.5894C= (p.Ala1965=)
c.5786C= (p.Ala1929=)
c.5849C= (p.Ala1950=)
c.5819C= (p.Ala1940=)
c.5891C= (p.Ala1964=)
3g.38550424G>TCA352139355SCN5Ac.5945C>A (p.Ala1982Asp)
c.5948C>A (p.Ala1983Asp)
c.5894C>A (p.Ala1965Asp)
c.5786C>A (p.Ala1929Asp)
c.5849C>A (p.Ala1950Asp)
c.5819C>A (p.Ala1940Asp)
c.5891C>A (p.Ala1964Asp)
3g.38550425C>ACA352139357SCN5Ac.5944G>T (p.Ala1982Ser)
c.5947G>T (p.Ala1983Ser)
c.5893G>T (p.Ala1965Ser)
c.5785G>T (p.Ala1929Ser)
c.5848G>T (p.Ala1950Ser)
c.5818G>T (p.Ala1940Ser)
c.5890G>T (p.Ala1964Ser)
3g.38550425C>GCA352139361SCN5Ac.5944G>C (p.Ala1982Pro)
c.5947G>C (p.Ala1983Pro)
c.5893G>C (p.Ala1965Pro)
c.5785G>C (p.Ala1929Pro)
c.5848G>C (p.Ala1950Pro)
c.5818G>C (p.Ala1940Pro)
c.5890G>C (p.Ala1964Pro)
3g.38550425C>TCA352139359SCN5Ac.5944G>A (p.Ala1982Thr)
c.5947G>A (p.Ala1983Thr)
c.5893G>A (p.Ala1965Thr)
c.5785G>A (p.Ala1929Thr)
c.5848G>A (p.Ala1950Thr)
c.5818G>A (p.Ala1940Thr)
c.5890G>A (p.Ala1964Thr)
 gnomAD v4
3g.38550426T>ACA352139363SCN5Ac.5943A>T (p.Arg1981Ser)
c.5946A>T (p.Arg1982Ser)
c.5892A>T (p.Arg1964Ser)
c.5784A>T (p.Arg1928Ser)
c.5847A>T (p.Arg1949Ser)
c.5817A>T (p.Arg1939Ser)
c.5889A>T (p.Arg1963Ser)
3g.38550426T>CCA433331414SCN5Ac.5943A>G (p.Arg1981=)
c.5946A>G (p.Arg1982=)
c.5892A>G (p.Arg1964=)
c.5784A>G (p.Arg1928=)
c.5847A>G (p.Arg1949=)
c.5817A>G (p.Arg1939=)
c.5889A>G (p.Arg1963=)
3g.38550426T>GCA352139365SCN5Ac.5943A>C (p.Arg1981Ser)
c.5946A>C (p.Arg1982Ser)
c.5892A>C (p.Arg1964Ser)
c.5784A>C (p.Arg1928Ser)
c.5847A>C (p.Arg1949Ser)
c.5817A>C (p.Arg1939Ser)
c.5889A>C (p.Arg1963Ser)
3g.38550427C>ACA10618414SCN5Ac.5942G>T (p.Arg1981Ile)
c.5945G>T (p.Arg1982Ile)
c.5891G>T (p.Arg1964Ile)
c.5783G>T (p.Arg1928Ile)
c.5846G>T (p.Arg1949Ile)
c.5816G>T (p.Arg1939Ile)
c.5888G>T (p.Arg1963Ile)
 ClinVar dbSNP
3g.38550427C=CA1358555739SCN5Ac.5942G= (p.Arg1981=)
c.5945G= (p.Arg1982=)
c.5891G= (p.Arg1964=)
c.5783G= (p.Arg1928=)
c.5846G= (p.Arg1949=)
c.5816G= (p.Arg1939=)
c.5888G= (p.Arg1963=)
3g.38550427C>GCA065035SCN5Ac.5942G>C (p.Arg1981Thr)
c.5945G>C (p.Arg1982Thr)
c.5891G>C (p.Arg1964Thr)
c.5783G>C (p.Arg1928Thr)
c.5846G>C (p.Arg1949Thr)
c.5816G>C (p.Arg1939Thr)
c.5888G>C (p.Arg1963Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38550427C>TCA352139367SCN5Ac.5942G>A (p.Arg1981Lys)
c.5945G>A (p.Arg1982Lys)
c.5891G>A (p.Arg1964Lys)
c.5783G>A (p.Arg1928Lys)
c.5846G>A (p.Arg1949Lys)
c.5816G>A (p.Arg1939Lys)
c.5888G>A (p.Arg1963Lys)
3g.38550428T>ACA352139369SCN5Ac.5941A>T (p.Arg1981Ter)
c.5944A>T (p.Arg1982Ter)
c.5890A>T (p.Arg1964Ter)
c.5782A>T (p.Arg1928Ter)
c.5845A>T (p.Arg1949Ter)
c.5815A>T (p.Arg1939Ter)
c.5887A>T (p.Arg1963Ter)
 dbSNP
3g.38550428T>CCA352139371SCN5Ac.5941A>G (p.Arg1981Gly)
c.5944A>G (p.Arg1982Gly)
c.5890A>G (p.Arg1964Gly)
c.5782A>G (p.Arg1928Gly)
c.5845A>G (p.Arg1949Gly)
c.5815A>G (p.Arg1939Gly)
c.5887A>G (p.Arg1963Gly)
3g.38550428T>GCA433331415SCN5Ac.5941A>C (p.Arg1981=)
c.5944A>C (p.Arg1982=)
c.5890A>C (p.Arg1964=)
c.5782A>C (p.Arg1928=)
c.5845A>C (p.Arg1949=)
c.5815A>C (p.Arg1939=)
c.5887A>C (p.Arg1963=)
3g.38550428T=CA1358555745SCN5Ac.5941A= (p.Arg1981=)
c.5944A= (p.Arg1982=)
c.5890A= (p.Arg1964=)
c.5782A= (p.Arg1928=)
c.5845A= (p.Arg1949=)
c.5815A= (p.Arg1939=)
c.5887A= (p.Arg1963=)
3g.38550429A=CA1358555747SCN5Ac.5940T= (p.Thr1980=)
c.5943T= (p.Thr1981=)
c.5889T= (p.Thr1963=)
c.5781T= (p.Thr1927=)
c.5844T= (p.Thr1948=)
c.5814T= (p.Thr1938=)
c.5886T= (p.Thr1962=)
3g.38550429A>CCA433331416SCN5Ac.5940T>G (p.Thr1980=)
c.5943T>G (p.Thr1981=)
c.5889T>G (p.Thr1963=)
c.5781T>G (p.Thr1927=)
c.5844T>G (p.Thr1948=)
c.5814T>G (p.Thr1938=)
c.5886T>G (p.Thr1962=)
3g.38550429A>GCA433331417SCN5Ac.5940T>C (p.Thr1980=)
c.5943T>C (p.Thr1981=)
c.5889T>C (p.Thr1963=)
c.5781T>C (p.Thr1927=)
c.5844T>C (p.Thr1948=)
c.5814T>C (p.Thr1938=)
c.5886T>C (p.Thr1962=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38550429A>TCA433331418SCN5Ac.5940T>A (p.Thr1980=)
c.5943T>A (p.Thr1981=)
c.5889T>A (p.Thr1963=)
c.5781T>A (p.Thr1927=)
c.5844T>A (p.Thr1948=)
c.5814T>A (p.Thr1938=)
c.5886T>A (p.Thr1962=)
3g.38550430G>ACA352139373SCN5Ac.5939C>T (p.Thr1980Ile)
c.5942C>T (p.Thr1981Ile)
c.5888C>T (p.Thr1963Ile)
c.5780C>T (p.Thr1927Ile)
c.5843C>T (p.Thr1948Ile)
c.5813C>T (p.Thr1938Ile)
c.5885C>T (p.Thr1962Ile)
3g.38550430G>CCA72937680SCN5Ac.5939C>G (p.Thr1980Ser)
c.5942C>G (p.Thr1981Ser)
c.5888C>G (p.Thr1963Ser)
c.5780C>G (p.Thr1927Ser)
c.5843C>G (p.Thr1948Ser)
c.5813C>G (p.Thr1938Ser)
c.5885C>G (p.Thr1962Ser)
 dbSNP
3g.38550430G=CA1358555749SCN5Ac.5939C= (p.Thr1980=)
c.5942C= (p.Thr1981=)
c.5888C= (p.Thr1963=)
c.5780C= (p.Thr1927=)
c.5843C= (p.Thr1948=)
c.5813C= (p.Thr1938=)
c.5885C= (p.Thr1962=)
3g.38550430G>TCA352139376SCN5Ac.5939C>A (p.Thr1980Asn)
c.5942C>A (p.Thr1981Asn)
c.5888C>A (p.Thr1963Asn)
c.5780C>A (p.Thr1927Asn)
c.5843C>A (p.Thr1948Asn)
c.5813C>A (p.Thr1938Asn)
c.5885C>A (p.Thr1962Asn)
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)
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)
 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)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched