Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.52029669delCA2578086673SGCBc.429+10del (n.429+10del)
c.512+10del
c.506+10del (n.506+10del)
c.132+10del (n.132+10del)
c.219+10del (n.219+10del)
4g.52029669G>ACA2670599134SGCBc.429+9C>T (n.429+9C>T)
c.512+9C>T
c.506+9C>T (n.506+9C>T)
c.132+9C>T (n.132+9C>T)
c.219+9C>T (n.219+9C>T)
 gnomAD v4
4g.52029669G>TCA2670599135SGCBc.429+9C>A (n.429+9C>A)
c.512+9C>A
c.506+9C>A (n.506+9C>A)
c.132+9C>A (n.132+9C>A)
c.219+9C>A (n.219+9C>A)
 gnomAD v4
4g.52029670C=CA1457429942SGCBc.429+8G= (n.429+8G=)
c.512+8G=
c.506+8G= (n.506+8G=)
c.132+8G= (n.132+8G=)
c.219+8G= (n.219+8G=)
4g.52029670C>TCA551651119SGCBc.429+8G>A (n.429+8G>A)
c.512+8G>A
c.506+8G>A (n.506+8G>A)
c.132+8G>A (n.132+8G>A)
c.219+8G>A (n.219+8G>A)
 dbSNP gnomAD v2 gnomAD v4
4g.52029673C=CA1457429943SGCBc.429+5G= (n.429+5G=)
c.512+5G=
c.506+5G= (n.506+5G=)
c.132+5G= (n.132+5G=)
c.219+5G= (n.219+5G=)
4g.52029673C>TCA243128SGCBc.429+5G>A (n.429+5G>A)
c.512+5G>A
c.506+5G>A (n.506+5G>A)
c.132+5G>A (n.132+5G>A)
c.219+5G>A (n.219+5G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.52029675delCA2670599136SGCBc.429+4del (n.429+4del)
c.512+4del
c.506+4del (n.506+4del)
c.132+4del (n.132+4del)
c.219+4del (n.219+4del)
 gnomAD v4
4g.52029676A>CCA356877113SGCBc.429+2T>G (n.429+2T>G)
c.512+2T>G
c.506+2T>G (n.506+2T>G)
c.132+2T>G (n.132+2T>G)
c.219+2T>G (n.219+2T>G)
4g.52029676A>GCA356877114SGCBc.429+2T>C (n.429+2T>C)
c.512+2T>C
c.506+2T>C (n.506+2T>C)
c.132+2T>C (n.132+2T>C)
c.219+2T>C (n.219+2T>C)
4g.52029676A>TCA356877115SGCBc.429+2T>A (n.429+2T>A)
c.512+2T>A
c.506+2T>A (n.506+2T>A)
c.132+2T>A (n.132+2T>A)
c.219+2T>A (n.219+2T>A)
 gnomAD v4
4g.52029676dupCA2695199380SGCBc.429+2dup (n.429+2dup)
c.512+2dup
c.506+2dup (n.506+2dup)
c.132+2dup (n.132+2dup)
c.219+2dup (n.219+2dup)
 ClinVar
4g.52029677C>ACA356877116SGCBc.429+1G>T (n.429+1G>T)
c.512+1G>T
c.506+1G>T (n.506+1G>T)
c.132+1G>T (n.132+1G>T)
c.219+1G>T (n.219+1G>T)
4g.52029677C>GCA356877117SGCBc.429+1G>C (n.429+1G>C)
c.512+1G>C
c.506+1G>C (n.506+1G>C)
c.132+1G>C (n.132+1G>C)
c.219+1G>C (n.219+1G>C)
4g.52029677C>TCA356877118SGCBc.429+1G>A (n.429+1G>A)
c.512+1G>A
c.506+1G>A (n.506+1G>A)
c.132+1G>A (n.132+1G>A)
c.219+1G>A (n.219+1G>A)
 gnomAD v4
4g.52029678A>CCA439274189SGCBc.429T>G (p.Pro143=)
c.512T>G
c.506T>G (n.506T>G)
c.132T>G (p.Pro44=)
c.219T>G (p.Pro73=)
4g.52029678A>GCA439274190SGCBc.429T>C (p.Pro143=)
c.512T>C
c.506T>C (n.506T>C)
c.132T>C (p.Pro44=)
c.219T>C (p.Pro73=)
4g.52029678A>TCA439274191SGCBc.429T>A (p.Pro143=)
c.512T>A
c.506T>A (n.506T>A)
c.132T>A (p.Pro44=)
c.219T>A (p.Pro73=)
4g.52029679G>ACA356877120SGCBc.428C>T (p.Pro143Leu)
c.511C>T
c.505C>T (n.505C>T)
c.131C>T (p.Pro44Leu)
c.218C>T (p.Pro73Leu)
4g.52029679G>CCA356877121SGCBc.428C>G (p.Pro143Arg)
c.511C>G
c.505C>G (n.505C>G)
c.131C>G (p.Pro44Arg)
c.218C>G (p.Pro73Arg)
4g.52029679G>TCA356877119SGCBc.428C>A (p.Pro143His)
c.511C>A
c.505C>A (n.505C>A)
c.131C>A (p.Pro44His)
c.218C>A (p.Pro73His)
 gnomAD v4
4g.52029679_52029680insTTAATCA2670599138SGCBc.427_428insATTAA (p.Pro143HisfsTer2)
c.510_511insATTAA
c.504_505insATTAA (n.504_505insATTAA)
c.130_131insATTAA (p.Pro44HisfsTer2)
c.217_218insATTAA (p.Pro73HisfsTer2)
 gnomAD v4
4g.52029680G>ACA356877124SGCBc.427C>T (p.Pro143Ser)
c.510C>T
c.504C>T (n.504C>T)
c.130C>T (p.Pro44Ser)
c.217C>T (p.Pro73Ser)
4g.52029680G>CCA356877122SGCBc.427C>G (p.Pro143Ala)
c.510C>G
c.504C>G (n.504C>G)
c.130C>G (p.Pro44Ala)
c.217C>G (p.Pro73Ala)
 dbSNP gnomAD v2 gnomAD v4
4g.52029680G=CA1457429944SGCBc.427C= (p.Pro143=)
c.510C=
c.504C= (n.504C=)
c.130C= (p.Pro44=)
c.217C= (p.Pro73=)
4g.52029680G>TCA356877123SGCBc.427C>A (p.Pro143Thr)
c.510C>A
c.504C>A (n.504C>A)
c.130C>A (p.Pro44Thr)
c.217C>A (p.Pro73Thr)
 gnomAD v4
4g.52029680_52029681insTGGCAACA2670599139SGCBc.426_427insTTGCCA (p.Gln142_Pro143insLeuPro)
c.509_510insTTGCCA
c.503_504insTTGCCA (n.503_504insTTGCCA)
c.129_130insTTGCCA (p.Gln43_Pro44insLeuPro)
c.216_217insTTGCCA (p.Gln72_Pro73insLeuPro)
 gnomAD v4
4g.52029681C>ACA356877125SGCBc.426G>T (p.Gln142His)
c.509G>T
c.503G>T (n.503G>T)
c.129G>T (p.Gln43His)
c.216G>T (p.Gln72His)
4g.52029681C=CA1457429945SGCBc.426G= (p.Gln142=)
c.509G=
c.503G= (n.503G=)
c.129G= (p.Gln43=)
c.216G= (p.Gln72=)
4g.52029681C>GCA356877126SGCBc.426G>C (p.Gln142His)
c.509G>C
c.503G>C (n.503G>C)
c.129G>C (p.Gln43His)
c.216G>C (p.Gln72His)
4g.52029681C>TCA2918413SGCBc.426G>A (p.Gln142=)
c.509G>A
c.503G>A (n.503G>A)
c.129G>A (p.Gln43=)
c.216G>A (p.Gln72=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029682T>ACA356877127SGCBc.425A>T (p.Gln142Leu)
c.508A>T
c.502A>T (n.502A>T)
c.128A>T (p.Gln43Leu)
c.215A>T (p.Gln72Leu)
4g.52029682T>CCA356877128SGCBc.425A>G (p.Gln142Arg)
c.508A>G
c.502A>G (n.502A>G)
c.128A>G (p.Gln43Arg)
c.215A>G (p.Gln72Arg)
4g.52029682T>GCA356877129SGCBc.425A>C (p.Gln142Pro)
c.508A>C
c.502A>C (n.502A>C)
c.128A>C (p.Gln43Pro)
c.215A>C (p.Gln72Pro)
4g.52029683G>ACA356877130SGCBc.424C>T (p.Gln142Ter)
c.507C>T
c.501C>T (n.501C>T)
c.127C>T (p.Gln43Ter)
c.214C>T (p.Gln72Ter)
 dbSNP
4g.52029683G>CCA356877131SGCBc.424C>G (p.Gln142Glu)
c.507C>G
c.501C>G (n.501C>G)
c.127C>G (p.Gln43Glu)
c.214C>G (p.Gln72Glu)
4g.52029683G=CA1457429946SGCBc.424C= (p.Gln142=)
c.507C=
c.501C= (n.501C=)
c.127C= (p.Gln43=)
c.214C= (p.Gln72=)
4g.52029683G>TCA356877132SGCBc.424C>A (p.Gln142Lys)
c.507C>A
c.501C>A (n.501C>A)
c.127C>A (p.Gln43Lys)
c.214C>A (p.Gln72Lys)
4g.52029684G>ACA439274196SGCBc.423C>T (p.Asn141=)
c.506C>T
c.500C>T (n.500C>T)
c.126C>T (p.Asn42=)
c.213C>T (p.Asn71=)
4g.52029684G>CCA356877133SGCBc.423C>G (p.Asn141Lys)
c.506C>G
c.500C>G (n.500C>G)
c.126C>G (p.Asn42Lys)
c.213C>G (p.Asn71Lys)
4g.52029684G>TCA356877134SGCBc.423C>A (p.Asn141Lys)
c.506C>A
c.500C>A (n.500C>A)
c.126C>A (p.Asn42Lys)
c.213C>A (p.Asn71Lys)
 gnomAD v4
4g.52029685T>ACA2918414SGCBc.422A>T (p.Asn141Ile)
c.505A>T
c.499A>T (n.499A>T)
c.125A>T (p.Asn42Ile)
c.212A>T (p.Asn71Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029685T>CCA356877135SGCBc.422A>G (p.Asn141Ser)
c.505A>G
c.499A>G (n.499A>G)
c.125A>G (p.Asn42Ser)
c.212A>G (p.Asn71Ser)
 dbSNP gnomAD v2 gnomAD v4
4g.52029685T>GCA356877136SGCBc.422A>C (p.Asn141Thr)
c.505A>C
c.499A>C (n.499A>C)
c.125A>C (p.Asn42Thr)
c.212A>C (p.Asn71Thr)
 dbSNP
4g.52029685T=CA1457429947SGCBc.422A= (p.Asn141=)
c.505A=
c.499A= (n.499A=)
c.125A= (p.Asn42=)
c.212A= (p.Asn71=)
4g.52029686T>ACA356877137SGCBc.421A>T (p.Asn141Tyr)
c.504A>T
c.498A>T (n.498A>T)
c.124A>T (p.Asn42Tyr)
c.211A>T (p.Asn71Tyr)
4g.52029686T>CCA356877138SGCBc.421A>G (p.Asn141Asp)
c.504A>G
c.498A>G (n.498A>G)
c.124A>G (p.Asn42Asp)
c.211A>G (p.Asn71Asp)
 dbSNP gnomAD v2 gnomAD v4
4g.52029686T>GCA356877139SGCBc.421A>C (p.Asn141His)
c.504A>C
c.498A>C (n.498A>C)
c.124A>C (p.Asn42His)
c.211A>C (p.Asn71His)
4g.52029686T=CA1457429948SGCBc.421A= (p.Asn141=)
c.504A=
c.498A= (n.498A=)
c.124A= (p.Asn42=)
c.211A= (p.Asn71=)
4g.52029687G>ACA439274200SGCBc.420C>T (p.Asn140=)
c.503C>T
c.497C>T (n.497C>T)
c.123C>T (p.Asn41=)
c.210C>T (p.Asn70=)
 dbSNP gnomAD v3 gnomAD v4
4g.52029687G>CCA356877140SGCBc.420C>G (p.Asn140Lys)
c.503C>G
c.497C>G (n.497C>G)
c.123C>G (p.Asn41Lys)
c.210C>G (p.Asn70Lys)
 gnomAD v4
4g.52029687G=CA1457429949SGCBc.420C= (p.Asn140=)
c.503C=
c.497C= (n.497C=)
c.123C= (p.Asn41=)
c.210C= (p.Asn70=)
4g.52029687G>TCA356877141SGCBc.420C>A (p.Asn140Lys)
c.503C>A
c.497C>A (n.497C>A)
c.123C>A (p.Asn41Lys)
c.210C>A (p.Asn70Lys)
4g.52029688T>ACA356877142SGCBc.419A>T (p.Asn140Ile)
c.502A>T
c.496A>T (n.496A>T)
c.122A>T (p.Asn41Ile)
c.209A>T (p.Asn70Ile)
4g.52029688T>CCA2918415SGCBc.419A>G (p.Asn140Ser)
c.502A>G
c.496A>G (n.496A>G)
c.122A>G (p.Asn41Ser)
c.209A>G (p.Asn70Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52029688T>GCA356877143SGCBc.419A>C (p.Asn140Thr)
c.502A>C
c.496A>C (n.496A>C)
c.122A>C (p.Asn41Thr)
c.209A>C (p.Asn70Thr)
4g.52029688T=CA1457429950SGCBc.419A= (p.Asn140=)
c.502A=
c.496A= (n.496A=)
c.122A= (p.Asn41=)
c.209A= (p.Asn70=)
4g.52029689T>ACA356877144SGCBc.418A>T (p.Asn140Tyr)
c.501A>T
c.495A>T (n.495A>T)
c.121A>T (p.Asn41Tyr)
c.208A>T (p.Asn70Tyr)
4g.52029689T>CCA356877145SGCBc.418A>G (p.Asn140Asp)
c.501A>G
c.495A>G (n.495A>G)
c.121A>G (p.Asn41Asp)
c.208A>G (p.Asn70Asp)
4g.52029689T>GCA356877146SGCBc.418A>C (p.Asn140His)
c.501A>C
c.495A>C (n.495A>C)
c.121A>C (p.Asn41His)
c.208A>C (p.Asn70His)
4g.52029690G>ACA2918416SGCBc.417C>T (p.Gly139=)
c.500C>T
c.494C>T (n.494C>T)
c.120C>T (p.Gly40=)
c.207C>T (p.Gly69=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52029690G>CCA439274204SGCBc.417C>G (p.Gly139=)
c.500C>G
c.494C>G (n.494C>G)
c.120C>G (p.Gly40=)
c.207C>G (p.Gly69=)
4g.52029690G=CA1457429951SGCBc.417C= (p.Gly139=)
c.500C=
c.494C= (n.494C=)
c.120C= (p.Gly40=)
c.207C= (p.Gly69=)
4g.52029690G>TCA439274205SGCBc.417C>A (p.Gly139=)
c.500C>A
c.494C>A (n.494C>A)
c.120C>A (p.Gly40=)
c.207C>A (p.Gly69=)
 ClinVar gnomAD v4
4g.52029691C>ACA356877149SGCBc.416G>T (p.Gly139Val)
c.499G>T
c.493G>T (n.493G>T)
c.119G>T (p.Gly40Val)
c.206G>T (p.Gly69Val)
4g.52029691C=CA1457429952SGCBc.416G= (p.Gly139=)
c.499G=
c.493G= (n.493G=)
c.119G= (p.Gly40=)
c.206G= (p.Gly69=)
4g.52029691C>GCA356877148SGCBc.416G>C (p.Gly139Ala)
c.499G>C
c.493G>C (n.493G>C)
c.119G>C (p.Gly40Ala)
c.206G>C (p.Gly69Ala)
4g.52029691C>TCA356877147SGCBc.416G>A (p.Gly139Asp)
c.499G>A
c.493G>A (n.493G>A)
c.119G>A (p.Gly40Asp)
c.206G>A (p.Gly69Asp)
 ClinVar dbSNP
4g.52029692C>ACA356877150SGCBc.415G>T (p.Gly139Cys)
c.498G>T
c.492G>T (n.492G>T)
c.118G>T (p.Gly40Cys)
c.205G>T (p.Gly69Cys)
4g.52029692C=CA1457429953SGCBc.415G= (p.Gly139=)
c.498G=
c.492G= (n.492G=)
c.118G= (p.Gly40=)
c.205G= (p.Gly69=)
4g.52029692C>GCA356877151SGCBc.415G>C (p.Gly139Arg)
c.498G>C
c.492G>C (n.492G>C)
c.118G>C (p.Gly40Arg)
c.205G>C (p.Gly69Arg)
4g.52029692C>TCA356877152SGCBc.415G>A (p.Gly139Ser)
c.498G>A
c.492G>A (n.492G>A)
c.118G>A (p.Gly40Ser)
c.205G>A (p.Gly69Ser)
 dbSNP gnomAD v2 gnomAD v4
4g.52029693delCA2705878197SGCBc.414del (p.Gly139AlafsTer17)
c.497del
c.491del (n.491del)
c.117del (p.Gly40AlafsTer17)
c.204del (p.Gly69AlafsTer17)
 dbSNP
4g.52029693A=CA1457429954SGCBc.414T= (p.Thr138=)
c.497T=
c.491T= (n.491T=)
c.117T= (p.Thr39=)
c.204T= (p.Thr68=)
4g.52029693A>CCA439274206SGCBc.414T>G (p.Thr138=)
c.497T>G
c.491T>G (n.491T>G)
c.117T>G (p.Thr39=)
c.204T>G (p.Thr68=)
 dbSNP
4g.52029693A>GCA439274207SGCBc.414T>C (p.Thr138=)
c.497T>C
c.491T>C (n.491T>C)
c.117T>C (p.Thr39=)
c.204T>C (p.Thr68=)
4g.52029693A>TCA439274208SGCBc.414T>A (p.Thr138=)
c.497T>A
c.491T>A (n.491T>A)
c.117T>A (p.Thr39=)
c.204T>A (p.Thr68=)
4g.52029694G>ACA356877153SGCBc.413C>T (p.Thr138Ile)
c.496C>T
c.490C>T (n.490C>T)
c.116C>T (p.Thr39Ile)
c.203C>T (p.Thr68Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.52029694G>CCA356877154SGCBc.413C>G (p.Thr138Ser)
c.496C>G
c.490C>G (n.490C>G)
c.116C>G (p.Thr39Ser)
c.203C>G (p.Thr68Ser)
4g.52029694G=CA1457429955SGCBc.413C= (p.Thr138=)
c.496C=
c.490C= (n.490C=)
c.116C= (p.Thr39=)
c.203C= (p.Thr68=)
4g.52029694G>TCA356877155SGCBc.413C>A (p.Thr138Asn)
c.496C>A
c.490C>A (n.490C>A)
c.116C>A (p.Thr39Asn)
c.203C>A (p.Thr68Asn)
4g.52029695T>ACA356877156SGCBc.412A>T (p.Thr138Ser)
c.495A>T
c.489A>T (n.489A>T)
c.115A>T (p.Thr39Ser)
c.202A>T (p.Thr68Ser)
 dbSNP gnomAD v4
4g.52029695T>CCA356877157SGCBc.412A>G (p.Thr138Ala)
c.495A>G
c.489A>G (n.489A>G)
c.115A>G (p.Thr39Ala)
c.202A>G (p.Thr68Ala)
 gnomAD v4
4g.52029695T>GCA356877158SGCBc.412A>C (p.Thr138Pro)
c.495A>C
c.489A>C (n.489A>C)
c.115A>C (p.Thr39Pro)
c.202A>C (p.Thr68Pro)
4g.52029695T=CA1457429956SGCBc.412A= (p.Thr138=)
c.495A=
c.489A= (n.489A=)
c.115A= (p.Thr39=)
c.202A= (p.Thr68=)
4g.52029696G>ACA439274210SGCBc.411C>T (p.Ile137=)
c.494C>T
c.488C>T (n.488C>T)
c.114C>T (p.Ile38=)
c.201C>T (p.Ile67=)
4g.52029696G>CCA356877159SGCBc.411C>G (p.Ile137Met)
c.494C>G
c.488C>G (n.488C>G)
c.114C>G (p.Ile38Met)
c.201C>G (p.Ile67Met)
4g.52029696G>TCA439274211SGCBc.411C>A (p.Ile137=)
c.494C>A
c.488C>A (n.488C>A)
c.114C>A (p.Ile38=)
c.201C>A (p.Ile67=)
4g.52029697A>CCA356877160SGCBc.410T>G (p.Ile137Ser)
c.493T>G
c.487T>G (n.487T>G)
c.113T>G (p.Ile38Ser)
c.200T>G (p.Ile67Ser)
4g.52029697A>GCA356877161SGCBc.410T>C (p.Ile137Thr)
c.493T>C
c.487T>C (n.487T>C)
c.113T>C (p.Ile38Thr)
c.200T>C (p.Ile67Thr)
4g.52029697A>TCA356877162SGCBc.410T>A (p.Ile137Asn)
c.493T>A
c.487T>A (n.487T>A)
c.113T>A (p.Ile38Asn)
c.200T>A (p.Ile67Asn)
4g.52029698T>ACA356877165SGCBc.409A>T (p.Ile137Phe)
c.492A>T
c.486A>T (n.486A>T)
c.112A>T (p.Ile38Phe)
c.199A>T (p.Ile67Phe)
4g.52029698T>CCA356877163SGCBc.409A>G (p.Ile137Val)
c.492A>G
c.486A>G (n.486A>G)
c.112A>G (p.Ile38Val)
c.199A>G (p.Ile67Val)
4g.52029698T>GCA356877164SGCBc.409A>C (p.Ile137Leu)
c.492A>C
c.486A>C (n.486A>C)
c.112A>C (p.Ile38Leu)
c.199A>C (p.Ile67Leu)
4g.52029699G>ACA439274213SGCBc.408C>T (p.Val136=)
c.491C>T
c.485C>T (n.485C>T)
c.111C>T (p.Val37=)
c.198C>T (p.Val66=)
 ClinVar dbSNP gnomAD v4
4g.52029699G>CCA439274214SGCBc.408C>G (p.Val136=)
c.491C>G
c.485C>G (n.485C>G)
c.111C>G (p.Val37=)
c.198C>G (p.Val66=)
4g.52029699G>TCA439274216SGCBc.408C>A (p.Val136=)
c.491C>A
c.485C>A (n.485C>A)
c.111C>A (p.Val37=)
c.198C>A (p.Val66=)
 gnomAD v4
4g.52029700A=CA1457429957SGCBc.407T= (p.Val136=)
c.490T=
c.484T= (n.484T=)
c.110T= (p.Val37=)
c.197T= (p.Val66=)
4g.52029700A>CCA2918417SGCBc.407T>G (p.Val136Gly)
c.490T>G
c.484T>G (n.484T>G)
c.110T>G (p.Val37Gly)
c.197T>G (p.Val66Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029700A>GCA356877166SGCBc.407T>C (p.Val136Ala)
c.490T>C
c.484T>C (n.484T>C)
c.110T>C (p.Val37Ala)
c.197T>C (p.Val66Ala)
4g.52029700A>TCA356877167SGCBc.407T>A (p.Val136Asp)
c.490T>A
c.484T>A (n.484T>A)
c.110T>A (p.Val37Asp)
c.197T>A (p.Val66Asp)
4g.52029701C>ACA356877168SGCBc.406G>T (p.Val136Phe)
c.489G>T
c.483G>T (n.483G>T)
c.109G>T (p.Val37Phe)
c.196G>T (p.Val66Phe)
4g.52029701C>GCA356877169SGCBc.406G>C (p.Val136Leu)
c.489G>C
c.483G>C (n.483G>C)
c.109G>C (p.Val37Leu)
c.196G>C (p.Val66Leu)
4g.52029701C>TCA356877170SGCBc.406G>A (p.Val136Ile)
c.489G>A
c.483G>A (n.483G>A)
c.109G>A (p.Val37Ile)
c.196G>A (p.Val66Ile)
4g.52029702C>ACA356877171SGCBc.405G>T (p.Leu135Phe)
c.488G>T
c.482G>T (n.482G>T)
c.108G>T (p.Leu36Phe)
c.195G>T (p.Leu65Phe)
 dbSNP gnomAD v3 gnomAD v4
4g.52029702C=CA1457429958SGCBc.405G= (p.Leu135=)
c.488G=
c.482G= (n.482G=)
c.108G= (p.Leu36=)
c.195G= (p.Leu65=)
4g.52029702C>GCA356877172SGCBc.405G>C (p.Leu135Phe)
c.488G>C
c.482G>C (n.482G>C)
c.108G>C (p.Leu36Phe)
c.195G>C (p.Leu65Phe)
4g.52029702C>TCA439274219SGCBc.405G>A (p.Leu135=)
c.488G>A
c.482G>A (n.482G>A)
c.108G>A (p.Leu36=)
c.195G>A (p.Leu65=)
 ClinVar dbSNP
4g.52029703A>CCA356877173SGCBc.404T>G (p.Leu135Trp)
c.487T>G
c.481T>G (n.481T>G)
c.107T>G (p.Leu36Trp)
c.194T>G (p.Leu65Trp)
 ClinVar gnomAD v4
4g.52029703A>GCA356877174SGCBc.404T>C (p.Leu135Ser)
c.487T>C
c.481T>C (n.481T>C)
c.107T>C (p.Leu36Ser)
c.194T>C (p.Leu65Ser)
4g.52029703A>TCA356877175SGCBc.404T>A (p.Leu135Ter)
c.487T>A
c.481T>A (n.481T>A)
c.107T>A (p.Leu36Ter)
c.194T>A (p.Leu65Ter)
 ClinVar
4g.52029704A=CA1457429959SGCBc.403T= (p.Leu135=)
c.486T=
c.480T= (n.480T=)
c.106T= (p.Leu36=)
c.193T= (p.Leu65=)
4g.52029704A>CCA356877176SGCBc.403T>G (p.Leu135Val)
c.486T>G
c.480T>G (n.480T>G)
c.106T>G (p.Leu36Val)
c.193T>G (p.Leu65Val)
 gnomAD v4
4g.52029704A>GCA439274220SGCBc.403T>C (p.Leu135=)
c.486T>C
c.480T>C (n.480T>C)
c.106T>C (p.Leu36=)
c.193T>C (p.Leu65=)
 ClinVar dbSNP gnomAD v4
4g.52029704A>TCA356877177SGCBc.403T>A (p.Leu135Met)
c.486T>A
c.480T>A (n.480T>A)
c.106T>A (p.Leu36Met)
c.193T>A (p.Leu65Met)
 dbSNP
4g.52029705A>CCA356877179SGCBc.402T>G (p.Asn134Lys)
c.485T>G
c.479T>G (n.479T>G)
c.105T>G (p.Asn35Lys)
c.192T>G (p.Asn64Lys)
4g.52029705A>GCA439274226SGCBc.402T>C (p.Asn134=)
c.485T>C
c.479T>C (n.479T>C)
c.105T>C (p.Asn35=)
c.192T>C (p.Asn64=)
4g.52029705A>TCA356877178SGCBc.402T>A (p.Asn134Lys)
c.485T>A
c.479T>A (n.479T>A)
c.105T>A (p.Asn35Lys)
c.192T>A (p.Asn64Lys)
4g.52029706T>ACA356877180SGCBc.401A>T (p.Asn134Ile)
c.484A>T
c.478A>T (n.478A>T)
c.104A>T (p.Asn35Ile)
c.191A>T (p.Asn64Ile)
4g.52029706T>CCA356877182SGCBc.401A>G (p.Asn134Ser)
c.484A>G
c.478A>G (n.478A>G)
c.104A>G (p.Asn35Ser)
c.191A>G (p.Asn64Ser)
4g.52029706T>GCA356877181SGCBc.401A>C (p.Asn134Thr)
c.484A>C
c.478A>C (n.478A>C)
c.104A>C (p.Asn35Thr)
c.191A>C (p.Asn64Thr)
4g.52029707T>ACA356877183SGCBc.400A>T (p.Asn134Tyr)
c.483A>T
c.477A>T (n.477A>T)
c.103A>T (p.Asn35Tyr)
c.190A>T (p.Asn64Tyr)
4g.52029707T>CCA356877185SGCBc.400A>G (p.Asn134Asp)
c.483A>G
c.477A>G (n.477A>G)
c.103A>G (p.Asn35Asp)
c.190A>G (p.Asn64Asp)
4g.52029707T>GCA356877184SGCBc.400A>C (p.Asn134His)
c.483A>C
c.477A>C (n.477A>C)
c.103A>C (p.Asn35His)
c.190A>C (p.Asn64His)
 dbSNP
4g.52029707T=CA1457429960SGCBc.400A= (p.Asn134=)
c.483A=
c.477A= (n.477A=)
c.103A= (p.Asn35=)
c.190A= (p.Asn64=)
4g.52029708T>ACA356877186SGCBc.399A>T (p.Glu133Asp)
c.482A>T
c.476A>T (n.476A>T)
c.102A>T (p.Glu34Asp)
c.189A>T (p.Glu63Asp)
4g.52029708T>CCA439274227SGCBc.399A>G (p.Glu133=)
c.482A>G
c.476A>G (n.476A>G)
c.102A>G (p.Glu34=)
c.189A>G (p.Glu63=)
4g.52029708T>GCA356877187SGCBc.399A>C (p.Glu133Asp)
c.482A>C
c.476A>C (n.476A>C)
c.102A>C (p.Glu34Asp)
c.189A>C (p.Glu63Asp)
4g.52029709T>ACA356877188SGCBc.398A>T (p.Glu133Val)
c.481A>T
c.475A>T (n.475A>T)
c.101A>T (p.Glu34Val)
c.188A>T (p.Glu63Val)
4g.52029709T>CCA356877189SGCBc.398A>G (p.Glu133Gly)
c.481A>G
c.475A>G (n.475A>G)
c.101A>G (p.Glu34Gly)
c.188A>G (p.Glu63Gly)
4g.52029709T>GCA356877190SGCBc.398A>C (p.Glu133Ala)
c.481A>C
c.475A>C (n.475A>C)
c.101A>C (p.Glu34Ala)
c.188A>C (p.Glu63Ala)
4g.52029710C>ACA356877191SGCBc.397G>T (p.Glu133Ter)
c.480G>T
c.474G>T (n.474G>T)
c.100G>T (p.Glu34Ter)
c.187G>T (p.Glu63Ter)
4g.52029710C>GCA356877192SGCBc.397G>C (p.Glu133Gln)
c.480G>C
c.474G>C (n.474G>C)
c.100G>C (p.Glu34Gln)
c.187G>C (p.Glu63Gln)
4g.52029710C>TCA356877193SGCBc.397G>A (p.Glu133Lys)
c.480G>A
c.474G>A (n.474G>A)
c.100G>A (p.Glu34Lys)
c.187G>A (p.Glu63Lys)
 gnomAD v4
4g.52029711A>CCA356877194SGCBc.396T>G (p.Asn132Lys)
c.479T>G
c.473T>G (n.473T>G)
c.99T>G (p.Asn33Lys)
c.186T>G (p.Asn62Lys)
 ClinVar
4g.52029711A>GCA439274231SGCBc.396T>C (p.Asn132=)
c.479T>C
c.473T>C (n.473T>C)
c.99T>C (p.Asn33=)
c.186T>C (p.Asn62=)
4g.52029711A>TCA356877195SGCBc.396T>A (p.Asn132Lys)
c.479T>A
c.473T>A (n.473T>A)
c.99T>A (p.Asn33Lys)
c.186T>A (p.Asn62Lys)
4g.52029712T>ACA356877196SGCBc.395A>T (p.Asn132Ile)
c.478A>T
c.472A>T (n.472A>T)
c.98A>T (p.Asn33Ile)
c.185A>T (p.Asn62Ile)
4g.52029712T>CCA356877197SGCBc.395A>G (p.Asn132Ser)
c.478A>G
c.472A>G (n.472A>G)
c.98A>G (p.Asn33Ser)
c.185A>G (p.Asn62Ser)
4g.52029712T>GCA356877198SGCBc.395A>C (p.Asn132Thr)
c.478A>C
c.472A>C (n.472A>C)
c.98A>C (p.Asn33Thr)
c.185A>C (p.Asn62Thr)
4g.52029713T>ACA356877199SGCBc.394A>T (p.Asn132Tyr)
c.477A>T
c.471A>T (n.471A>T)
c.97A>T (p.Asn33Tyr)
c.184A>T (p.Asn62Tyr)
4g.52029713T>CCA356877201SGCBc.394A>G (p.Asn132Asp)
c.477A>G
c.471A>G (n.471A>G)
c.97A>G (p.Asn33Asp)
c.184A>G (p.Asn62Asp)
4g.52029713T>GCA356877200SGCBc.394A>C (p.Asn132His)
c.477A>C
c.471A>C (n.471A>C)
c.97A>C (p.Asn33His)
c.184A>C (p.Asn62His)
4g.52029714T>ACA439274234SGCBc.393A>T (p.Arg131=)
c.476A>T
c.470A>T (n.470A>T)
c.96A>T (p.Arg32=)
c.183A>T (p.Arg61=)
4g.52029714T>CCA439274235SGCBc.393A>G (p.Arg131=)
c.476A>G
c.470A>G (n.470A>G)
c.96A>G (p.Arg32=)
c.183A>G (p.Arg61=)
4g.52029714T>GCA439274236SGCBc.393A>C (p.Arg131=)
c.476A>C
c.470A>C (n.470A>C)
c.96A>C (p.Arg32=)
c.183A>C (p.Arg61=)
4g.52029715C>ACA356877202SGCBc.392G>T (p.Arg131Leu)
c.475G>T
c.469G>T (n.469G>T)
c.95G>T (p.Arg32Leu)
c.182G>T (p.Arg61Leu)
 dbSNP gnomAD v3 gnomAD v4
4g.52029715C=CA1457429961SGCBc.392G= (p.Arg131=)
c.475G=
c.469G= (n.469G=)
c.95G= (p.Arg32=)
c.182G= (p.Arg61=)
4g.52029715C>GCA356877203SGCBc.392G>C (p.Arg131Pro)
c.475G>C
c.469G>C (n.469G>C)
c.95G>C (p.Arg32Pro)
c.182G>C (p.Arg61Pro)
4g.52029715C>TCA2918418SGCBc.392G>A (p.Arg131Gln)
c.475G>A
c.469G>A (n.469G>A)
c.95G>A (p.Arg32Gln)
c.182G>A (p.Arg61Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52029716G>ACA96782984SGCBc.391C>T (p.Arg131Ter)
c.474C>T
c.468C>T (n.468C>T)
c.94C>T (p.Arg32Ter)
c.181C>T (p.Arg61Ter)
 ClinVar dbSNP gnomAD v4 COSMIC
4g.52029716G>CCA356877204SGCBc.391C>G (p.Arg131Gly)
c.474C>G
c.468C>G (n.468C>G)
c.94C>G (p.Arg32Gly)
c.181C>G (p.Arg61Gly)
4g.52029716G=CA1457429962SGCBc.391C= (p.Arg131=)
c.474C=
c.468C= (n.468C=)
c.94C= (p.Arg32=)
c.181C= (p.Arg61=)
4g.52029716G>TCA439274240SGCBc.391C>A (p.Arg131=)
c.474C>A
c.468C>A (n.468C>A)
c.94C>A (p.Arg32=)
c.181C>A (p.Arg61=)
4g.52029717C>ACA356877205SGCBc.390G>T (p.Arg130Ser)
c.473G>T
c.467G>T (n.467G>T)
c.93G>T (p.Arg31Ser)
c.180G>T (p.Arg60Ser)
4g.52029717C=CA1457429963SGCBc.390G= (p.Arg130=)
c.473G=
c.467G= (n.467G=)
c.93G= (p.Arg31=)
c.180G= (p.Arg60=)
4g.52029717C>GCA356877206SGCBc.390G>C (p.Arg130Ser)
c.473G>C
c.467G>C (n.467G>C)
c.93G>C (p.Arg31Ser)
c.180G>C (p.Arg60Ser)
 gnomAD v4
4g.52029717C>TCA2918419SGCBc.390G>A (p.Arg130=)
c.473G>A
c.467G>A (n.467G>A)
c.93G>A (p.Arg31=)
c.180G>A (p.Arg60=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52029718C>ACA356877207SGCBc.389G>T (p.Arg130Met)
c.472G>T
c.466G>T (n.466G>T)
c.92G>T (p.Arg31Met)
c.179G>T (p.Arg60Met)
4g.52029718C>GCA356877208SGCBc.389G>C (p.Arg130Thr)
c.472G>C
c.466G>C (n.466G>C)
c.92G>C (p.Arg31Thr)
c.179G>C (p.Arg60Thr)
4g.52029718C>TCA356877209SGCBc.389G>A (p.Arg130Lys)
c.472G>A
c.466G>A (n.466G>A)
c.92G>A (p.Arg31Lys)
c.179G>A (p.Arg60Lys)
4g.52029719T>ACA356877210SGCBc.388A>T (p.Arg130Trp)
c.471A>T
c.465A>T (n.465A>T)
c.91A>T (p.Arg31Trp)
c.178A>T (p.Arg60Trp)
 gnomAD v4
4g.52029719T>CCA356877211SGCBc.388A>G (p.Arg130Gly)
c.471A>G
c.465A>G (n.465A>G)
c.91A>G (p.Arg31Gly)
c.178A>G (p.Arg60Gly)
4g.52029719T>GCA439274243SGCBc.388A>C (p.Arg130=)
c.471A>C
c.465A>C (n.465A>C)
c.91A>C (p.Arg31=)
c.178A>C (p.Arg60=)
4g.52029720T>ACA439274244SGCBc.387A>T (p.Gly129=)
c.470A>T
c.464A>T (n.464A>T)
c.90A>T (p.Gly30=)
c.177A>T (p.Gly59=)
4g.52029720T>CCA439274246SGCBc.387A>G (p.Gly129=)
c.470A>G
c.464A>G (n.464A>G)
c.90A>G (p.Gly30=)
c.177A>G (p.Gly59=)
4g.52029720T>GCA439274248SGCBc.387A>C (p.Gly129=)
c.470A>C
c.464A>C (n.464A>C)
c.90A>C (p.Gly30=)
c.177A>C (p.Gly59=)
4g.52029721C>ACA356877212SGCBc.386G>T (p.Gly129Val)
c.469G>T
c.463G>T (n.463G>T)
c.89G>T (p.Gly30Val)
c.176G>T (p.Gly59Val)
4g.52029721C>GCA356877213SGCBc.386G>C (p.Gly129Ala)
c.469G>C
c.463G>C (n.463G>C)
c.89G>C (p.Gly30Ala)
c.176G>C (p.Gly59Ala)
4g.52029721C>TCA356877214SGCBc.386G>A (p.Gly129Glu)
c.469G>A
c.463G>A (n.463G>A)
c.89G>A (p.Gly30Glu)
c.176G>A (p.Gly59Glu)
 gnomAD v4
4g.52029722C>ACA356877215SGCBc.385G>T (p.Gly129Ter)
c.468G>T
c.462G>T (n.462G>T)
c.88G>T (p.Gly30Ter)
c.175G>T (p.Gly59Ter)
 gnomAD v4
4g.52029722C=CA1457429964SGCBc.385G= (p.Gly129=)
c.468G=
c.462G= (n.462G=)
c.88G= (p.Gly30=)
c.175G= (p.Gly59=)
4g.52029722C>GCA356877216SGCBc.385G>C (p.Gly129Arg)
c.468G>C
c.462G>C (n.462G>C)
c.88G>C (p.Gly30Arg)
c.175G>C (p.Gly59Arg)
4g.52029722C>TCA356877217SGCBc.385G>A (p.Gly129Arg)
c.468G>A
c.462G>A (n.462G>A)
c.88G>A (p.Gly30Arg)
c.175G>A (p.Gly59Arg)
4g.52029723T>ACA439274252SGCBc.384A>T (p.Gly128=)
c.467A>T
c.461A>T (n.461A>T)
c.87A>T (p.Gly29=)
c.174A>T (p.Gly58=)
4g.52029723T>CCA439274253SGCBc.384A>G (p.Gly128=)
c.467A>G
c.461A>G (n.461A>G)
c.87A>G (p.Gly29=)
c.174A>G (p.Gly58=)
4g.52029723T>GCA439274254SGCBc.384A>C (p.Gly128=)
c.467A>C
c.461A>C (n.461A>C)
c.87A>C (p.Gly29=)
c.174A>C (p.Gly58=)
4g.52029724_52029731dupCA2918420SGCBc.377_384dup (p.Gly129GlnfsTer2)
c.460_467dup
c.454_461dup (n.454_461dup)
c.80_87dup (p.Gly30GlnfsTer2)
c.167_174dup (p.Gly59GlnfsTer2)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029724C>ACA356877218SGCBc.383G>T (p.Gly128Val)
c.466G>T
c.460G>T (n.460G>T)
c.86G>T (p.Gly29Val)
c.173G>T (p.Gly58Val)
4g.52029724C=CA1457429965SGCBc.383G= (p.Gly128=)
c.466G=
c.460G= (n.460G=)
c.86G= (p.Gly29=)
c.173G= (p.Gly58=)
4g.52029724C>GCA356877219SGCBc.383G>C (p.Gly128Ala)
c.466G>C
c.460G>C (n.460G>C)
c.86G>C (p.Gly29Ala)
c.173G>C (p.Gly58Ala)
4g.52029724C>TCA356877220SGCBc.383G>A (p.Gly128Glu)
c.466G>A
c.460G>A (n.460G>A)
c.86G>A (p.Gly29Glu)
c.173G>A (p.Gly58Glu)
 dbSNP gnomAD v2 gnomAD v4
4g.52029725C>ACA356877221SGCBc.382G>T (p.Gly128Ter)
c.465G>T
c.459G>T (n.459G>T)
c.85G>T (p.Gly29Ter)
c.172G>T (p.Gly58Ter)
4g.52029725C=CA1457429966SGCBc.382G= (p.Gly128=)
c.465G=
c.459G= (n.459G=)
c.85G= (p.Gly29=)
c.172G= (p.Gly58=)
4g.52029725C>GCA356877222SGCBc.382G>C (p.Gly128Arg)
c.465G>C
c.459G>C (n.459G>C)
c.85G>C (p.Gly29Arg)
c.172G>C (p.Gly58Arg)
4g.52029725C>TCA96783014SGCBc.382G>A (p.Gly128Arg)
c.465G>A
c.459G>A (n.459G>A)
c.85G>A (p.Gly29Arg)
c.172G>A (p.Gly58Arg)
 dbSNP
4g.52029726T>ACA439274259SGCBc.381A>T (p.Val127=)
c.464A>T
c.458A>T (n.458A>T)
c.84A>T (p.Val28=)
c.171A>T (p.Val57=)
4g.52029726T>CCA439274261SGCBc.381A>G (p.Val127=)
c.464A>G
c.458A>G (n.458A>G)
c.84A>G (p.Val28=)
c.171A>G (p.Val57=)
4g.52029726T>GCA439274260SGCBc.381A>C (p.Val127=)
c.464A>C
c.458A>C (n.458A>C)
c.84A>C (p.Val28=)
c.171A>C (p.Val57=)
4g.52029727A=CA1457429967SGCBc.380T= (p.Val127=)
c.463T=
c.457T= (n.457T=)
c.83T= (p.Val28=)
c.170T= (p.Val57=)
4g.52029727A>CCA356877224SGCBc.380T>G (p.Val127Gly)
c.463T>G
c.457T>G (n.457T>G)
c.83T>G (p.Val28Gly)
c.170T>G (p.Val57Gly)
4g.52029727A>GCA10605418SGCBc.380T>C (p.Val127Ala)
c.463T>C
c.457T>C (n.457T>C)
c.83T>C (p.Val28Ala)
c.170T>C (p.Val57Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.52029727A>TCA356877223SGCBc.380T>A (p.Val127Glu)
c.463T>A
c.457T>A (n.457T>A)
c.83T>A (p.Val28Glu)
c.170T>A (p.Val57Glu)
4g.52029728C>ACA356877225SGCBc.379G>T (p.Val127Leu)
c.462G>T
c.456G>T (n.456G>T)
c.82G>T (p.Val28Leu)
c.169G>T (p.Val57Leu)
4g.52029728C=CA1457429968SGCBc.379G= (p.Val127=)
c.462G=
c.456G= (n.456G=)
c.82G= (p.Val28=)
c.169G= (p.Val57=)
4g.52029728C>GCA96783038SGCBc.379G>C (p.Val127Leu)
c.462G>C
c.456G>C (n.456G>C)
c.82G>C (p.Val28Leu)
c.169G>C (p.Val57Leu)
 ClinVar dbSNP gnomAD v4
4g.52029728C>TCA2918421SGCBc.379G>A (p.Val127Ile)
c.462G>A
c.456G>A (n.456G>A)
c.82G>A (p.Val28Ile)
c.169G>A (p.Val57Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029729T>ACA439274262SGCBc.378A>T (p.Thr126=)
c.461A>T
c.455A>T (n.455A>T)
c.81A>T (p.Thr27=)
c.168A>T (p.Thr56=)
4g.52029729T>CCA439274263SGCBc.378A>G (p.Thr126=)
c.461A>G
c.455A>G (n.455A>G)
c.81A>G (p.Thr27=)
c.168A>G (p.Thr56=)
 ClinVar gnomAD v4
4g.52029729T>GCA439274265SGCBc.378A>C (p.Thr126=)
c.461A>C
c.455A>C (n.455A>C)
c.81A>C (p.Thr27=)
c.168A>C (p.Thr56=)
4g.52029730G>ACA2918422SGCBc.377C>T (p.Thr126Ile)
c.460C>T
c.454C>T (n.454C>T)
c.80C>T (p.Thr27Ile)
c.167C>T (p.Thr56Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52029730G>CCA356877226SGCBc.377C>G (p.Thr126Arg)
c.460C>G
c.454C>G (n.454C>G)
c.80C>G (p.Thr27Arg)
c.167C>G (p.Thr56Arg)
4g.52029730G=CA1457429969SGCBc.377C= (p.Thr126=)
c.460C=
c.454C= (n.454C=)
c.80C= (p.Thr27=)
c.167C= (p.Thr56=)
4g.52029730G>TCA356877227SGCBc.377C>A (p.Thr126Lys)
c.460C>A
c.454C>A (n.454C>A)
c.80C>A (p.Thr27Lys)
c.167C>A (p.Thr56Lys)
4g.52029731T>ACA356877228SGCBc.376A>T (p.Thr126Ser)
c.459A>T
c.453A>T (n.453A>T)
c.79A>T (p.Thr27Ser)
c.166A>T (p.Thr56Ser)
 dbSNP gnomAD v2 gnomAD v4
4g.52029731T>CCA96783055SGCBc.376A>G (p.Thr126Ala)
c.459A>G
c.453A>G (n.453A>G)
c.79A>G (p.Thr27Ala)
c.166A>G (p.Thr56Ala)
 dbSNP gnomAD v2 gnomAD v4
4g.52029731T>GCA2918423SGCBc.376A>C (p.Thr126Pro)
c.459A>C
c.453A>C (n.453A>C)
c.79A>C (p.Thr27Pro)
c.166A>C (p.Thr56Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029731T=CA1457429970SGCBc.376A= (p.Thr126=)
c.459A=
c.453A= (n.453A=)
c.79A= (p.Thr27=)
c.166A= (p.Thr56=)
4g.52029732G>ACA439274271SGCBc.375C>T (p.Ser125=)
c.458C>T
c.452C>T (n.452C>T)
c.78C>T (p.Ser26=)
c.165C>T (p.Ser55=)
4g.52029732G>CCA356877229SGCBc.375C>G (p.Ser125Arg)
c.458C>G
c.452C>G (n.452C>G)
c.78C>G (p.Ser26Arg)
c.165C>G (p.Ser55Arg)
4g.52029732G>TCA356877230SGCBc.375C>A (p.Ser125Arg)
c.458C>A
c.452C>A (n.452C>A)
c.78C>A (p.Ser26Arg)
c.165C>A (p.Ser55Arg)
4g.52029733delCA2695199381SGCBc.374del (p.Ser125ThrfsTer3)
c.457del
c.451del (n.451del)
c.77del (p.Ser26ThrfsTer3)
c.164del (p.Ser55ThrfsTer3)
 ClinVar
4g.52029733C>ACA356877233SGCBc.374G>T (p.Ser125Ile)
c.457G>T
c.451G>T (n.451G>T)
c.77G>T (p.Ser26Ile)
c.164G>T (p.Ser55Ile)
 gnomAD v4
4g.52029733C=CA1457429971SGCBc.374G= (p.Ser125=)
c.457G=
c.451G= (n.451G=)
c.77G= (p.Ser26=)
c.164G= (p.Ser55=)
4g.52029733C>GCA356877232SGCBc.374G>C (p.Ser125Thr)
c.457G>C
c.451G>C (n.451G>C)
c.77G>C (p.Ser26Thr)
c.164G>C (p.Ser55Thr)
4g.52029733C>TCA356877231SGCBc.374G>A (p.Ser125Asn)
c.457G>A
c.451G>A (n.451G>A)
c.77G>A (p.Ser26Asn)
c.164G>A (p.Ser55Asn)
 ClinVar dbSNP gnomAD v4
4g.52029734T>ACA2918425SGCBc.373A>T (p.Ser125Cys)
c.456A>T
c.450A>T (n.450A>T)
c.76A>T (p.Ser26Cys)
c.163A>T (p.Ser55Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029734T>CCA2918424SGCBc.373A>G (p.Ser125Gly)
c.456A>G
c.450A>G (n.450A>G)
c.76A>G (p.Ser26Gly)
c.163A>G (p.Ser55Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029734T>GCA356877234SGCBc.373A>C (p.Ser125Arg)
c.456A>C
c.450A>C (n.450A>C)
c.76A>C (p.Ser26Arg)
c.163A>C (p.Ser55Arg)
4g.52029734T=CA1457429972SGCBc.373A= (p.Ser125=)
c.456A=
c.450A= (n.450A=)
c.76A= (p.Ser26=)
c.163A= (p.Ser55=)
4g.52029737dupCA2573137897SGCBc.373dup (p.Ser125LysfsTer9)
c.456dup
c.450dup (n.450dup)
c.76dup (p.Ser26LysfsTer9)
c.163dup (p.Ser55LysfsTer9)
 ClinVar dbSNP
4g.52029735T>ACA356877235SGCBc.372A>T (p.Lys124Asn)
c.455A>T
c.449A>T (n.449A>T)
c.75A>T (p.Lys25Asn)
c.162A>T (p.Lys54Asn)
4g.52029735T>CCA2918426SGCBc.372A>G (p.Lys124=)
c.455A>G
c.449A>G (n.449A>G)
c.75A>G (p.Lys25=)
c.162A>G (p.Lys54=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029735T>GCA356877236SGCBc.372A>C (p.Lys124Asn)
c.455A>C
c.449A>C (n.449A>C)
c.75A>C (p.Lys25Asn)
c.162A>C (p.Lys54Asn)
4g.52029735T=CA1457429973SGCBc.372A= (p.Lys124=)
c.455A=
c.449A= (n.449A=)
c.75A= (p.Lys25=)
c.162A= (p.Lys54=)
4g.52029736T>ACA356877239SGCBc.371A>T (p.Lys124Ile)
c.454A>T
c.448A>T (n.448A>T)
c.74A>T (p.Lys25Ile)
c.161A>T (p.Lys54Ile)
4g.52029736T>CCA356877238SGCBc.371A>G (p.Lys124Arg)
c.454A>G
c.448A>G (n.448A>G)
c.74A>G (p.Lys25Arg)
c.161A>G (p.Lys54Arg)
4g.52029736T>GCA356877237SGCBc.371A>C (p.Lys124Thr)
c.454A>C
c.448A>C (n.448A>C)
c.74A>C (p.Lys25Thr)
c.161A>C (p.Lys54Thr)
4g.52029737T>ACA356877240SGCBc.370A>T (p.Lys124Ter)
c.453A>T
c.447A>T (n.447A>T)
c.73A>T (p.Lys25Ter)
c.160A>T (p.Lys54Ter)
4g.52029737T>CCA2918427SGCBc.370A>G (p.Lys124Glu)
c.453A>G
c.447A>G (n.447A>G)
c.73A>G (p.Lys25Glu)
c.160A>G (p.Lys54Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52029737T>GCA356877241SGCBc.370A>C (p.Lys124Gln)
c.453A>C
c.447A>C (n.447A>C)
c.73A>C (p.Lys25Gln)
c.160A>C (p.Lys54Gln)
 gnomAD v4
4g.52029737T=CA1457429974SGCBc.370A= (p.Lys124=)
c.453A=
c.447A= (n.447A=)
c.73A= (p.Lys25=)
c.160A= (p.Lys54=)
4g.52029738A=CA1457429975SGCBc.369T= (p.Tyr123=)
c.452T=
c.446T= (n.446T=)
c.72T= (p.Tyr24=)
c.159T= (p.Tyr53=)
4g.52029738A>CCA356877242SGCBc.369T>G (p.Tyr123Ter)
c.452T>G
c.446T>G (n.446T>G)
c.72T>G (p.Tyr24Ter)
c.159T>G (p.Tyr53Ter)
4g.52029738A>GCA2918428SGCBc.369T>C (p.Tyr123=)
c.452T>C
c.446T>C (n.446T>C)
c.72T>C (p.Tyr24=)
c.159T>C (p.Tyr53=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52029738A>TCA356877243SGCBc.369T>A (p.Tyr123Ter)
c.452T>A
c.446T>A (n.446T>A)
c.72T>A (p.Tyr24Ter)
c.159T>A (p.Tyr53Ter)
4g.52029739T>ACA356877245SGCBc.368A>T (p.Tyr123Phe)
c.451A>T
c.445A>T (n.445A>T)
c.71A>T (p.Tyr24Phe)
c.158A>T (p.Tyr53Phe)
4g.52029739T>CCA356877244SGCBc.368A>G (p.Tyr123Cys)
c.451A>G
c.445A>G (n.445A>G)
c.71A>G (p.Tyr24Cys)
c.158A>G (p.Tyr53Cys)
4g.52029739T>GCA220521SGCBc.368A>C (p.Tyr123Ser)
c.451A>C
c.445A>C (n.445A>C)
c.71A>C (p.Tyr24Ser)
c.158A>C (p.Tyr53Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52029739T=CA1457429976SGCBc.368A= (p.Tyr123=)
c.451A=
c.445A= (n.445A=)
c.71A= (p.Tyr24=)
c.158A= (p.Tyr53=)
4g.52029739_52029741delinsTAACA1457429977SGCBc.366_368delinsTTA (p.Leu122=)
c.449_451delinsTTA
c.443_445delinsTTA (n.443_445delinsTTA)
c.69_71delinsTTA (p.Leu23=)
c.156_158delinsTTA (p.Leu52=)
4g.52029740A=CA1457429978SGCBc.367T= (p.Tyr123=)
c.450T=
c.444T= (n.444T=)
c.70T= (p.Tyr24=)
c.157T= (p.Tyr53=)
4g.52029740A>CCA356877246SGCBc.367T>G (p.Tyr123Asp)
c.450T>G
c.444T>G (n.444T>G)
c.70T>G (p.Tyr24Asp)
c.157T>G (p.Tyr53Asp)
4g.52029740A>GCA356877247SGCBc.367T>C (p.Tyr123His)
c.450T>C
c.444T>C (n.444T>C)
c.70T>C (p.Tyr24His)
c.157T>C (p.Tyr53His)
 dbSNP gnomAD v2 gnomAD v4
4g.52029740A>TCA356877248SGCBc.367T>A (p.Tyr123Asn)
c.450T>A
c.444T>A (n.444T>A)
c.70T>A (p.Tyr24Asn)
c.157T>A (p.Tyr53Asn)
4g.52029741_52029742delCA915943043SGCBc.366_367del (p.Tyr123Ter)
c.449_450del
c.443_444del (n.443_444del)
c.69_70del (p.Tyr24Ter)
c.156_157del (p.Tyr53Ter)
 ClinVar dbSNP
4g.52029741A>CCA439274286SGCBc.366T>G (p.Leu122=)
c.449T>G
c.443T>G (n.443T>G)
c.69T>G (p.Leu23=)
c.156T>G (p.Leu52=)
4g.52029741A>GCA439274287SGCBc.366T>C (p.Leu122=)
c.449T>C
c.443T>C (n.443T>C)
c.69T>C (p.Leu23=)
c.156T>C (p.Leu52=)
4g.52029741A>TCA439274289SGCBc.366T>A (p.Leu122=)
c.449T>A
c.443T>A (n.443T>A)
c.69T>A (p.Leu23=)
c.156T>A (p.Leu52=)
4g.52029742A>CCA356877249SGCBc.365T>G (p.Leu122Arg)
c.448T>G
c.442T>G (n.442T>G)
c.68T>G (p.Leu23Arg)
c.155T>G (p.Leu52Arg)
4g.52029742A>GCA356877250SGCBc.365T>C (p.Leu122Pro)
c.448T>C
c.442T>C (n.442T>C)
c.68T>C (p.Leu23Pro)
c.155T>C (p.Leu52Pro)
4g.52029742A>TCA356877251SGCBc.365T>A (p.Leu122His)
c.448T>A
c.442T>A (n.442T>A)
c.68T>A (p.Leu23His)
c.155T>A (p.Leu52His)
4g.52029743G>ACA96783077SGCBc.364C>T (p.Leu122Phe)
c.447C>T
c.441C>T (n.441C>T)
c.67C>T (p.Leu23Phe)
c.154C>T (p.Leu52Phe)
 dbSNP gnomAD v4
4g.52029743G>CCA356877252SGCBc.364C>G (p.Leu122Val)
c.447C>G
c.441C>G (n.441C>G)
c.67C>G (p.Leu23Val)
c.154C>G (p.Leu52Val)
 dbSNP gnomAD v2 gnomAD v4
4g.52029743G=CA1457429979SGCBc.364C= (p.Leu122=)
c.447C=
c.441C= (n.441C=)
c.67C= (p.Leu23=)
c.154C= (p.Leu52=)
4g.52029743G>TCA356877253SGCBc.364C>A (p.Leu122Ile)
c.447C>A
c.441C>A (n.441C>A)
c.67C>A (p.Leu23Ile)
c.154C>A (p.Leu52Ile)
4g.52029744A=CA1457429980SGCBc.363T= (p.Pro121=)
c.446T=
c.440T= (n.440T=)
c.66T= (p.Pro22=)
c.153T= (p.Pro51=)
4g.52029744A>CCA439274294SGCBc.363T>G (p.Pro121=)
c.446T>G
c.440T>G (n.440T>G)
c.66T>G (p.Pro22=)
c.153T>G (p.Pro51=)
4g.52029744A>GCA439274295SGCBc.363T>C (p.Pro121=)
c.446T>C
c.440T>C (n.440T>C)
c.66T>C (p.Pro22=)
c.153T>C (p.Pro51=)
4g.52029744A>TCA2918429SGCBc.363T>A (p.Pro121=)
c.446T>A
c.440T>A (n.440T>A)
c.66T>A (p.Pro22=)
c.153T>A (p.Pro51=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52029745G>ACA356877254SGCBc.362C>T (p.Pro121Leu)
c.445C>T
c.439C>T (n.439C>T)
c.65C>T (p.Pro22Leu)
c.152C>T (p.Pro51Leu)
 dbSNP
4g.52029745G>CCA356877255SGCBc.362C>G (p.Pro121Arg)
c.445C>G
c.439C>G (n.439C>G)
c.65C>G (p.Pro22Arg)
c.152C>G (p.Pro51Arg)
 gnomAD v4
4g.52029745G=CA1457429981SGCBc.362C= (p.Pro121=)
c.445C=
c.439C= (n.439C=)
c.65C= (p.Pro22=)
c.152C= (p.Pro51=)
4g.52029745G>TCA356877256SGCBc.362C>A (p.Pro121His)
c.445C>A
c.439C>A (n.439C>A)
c.65C>A (p.Pro22His)
c.152C>A (p.Pro51His)
4g.52029746G>ACA2918430SGCBc.361C>T (p.Pro121Ser)
c.444C>T
c.438C>T (n.438C>T)
c.64C>T (p.Pro22Ser)
c.151C>T (p.Pro51Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029746G>CCA356877257SGCBc.361C>G (p.Pro121Ala)
c.444C>G
c.438C>G (n.438C>G)
c.64C>G (p.Pro22Ala)
c.151C>G (p.Pro51Ala)
4g.52029746G=CA1457429982SGCBc.361C= (p.Pro121=)
c.444C=
c.438C= (n.438C=)
c.64C= (p.Pro22=)
c.151C= (p.Pro51=)
4g.52029746G>TCA2918431SGCBc.361C>A (p.Pro121Thr)
c.444C>A
c.438C>A (n.438C>A)
c.64C>A (p.Pro22Thr)
c.151C>A (p.Pro51Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029747G>ACA439274299SGCBc.360C>T (p.His120=)
c.443C>T
c.437C>T (n.437C>T)
c.63C>T (p.His21=)
c.150C>T (p.His50=)
 ClinVar dbSNP gnomAD v4
4g.52029747G>CCA356877258SGCBc.360C>G (p.His120Gln)
c.443C>G
c.437C>G (n.437C>G)
c.63C>G (p.His21Gln)
c.150C>G (p.His50Gln)
4g.52029747G>TCA356877259SGCBc.360C>A (p.His120Gln)
c.443C>A
c.437C>A (n.437C>A)
c.63C>A (p.His21Gln)
c.150C>A (p.His50Gln)
4g.52029748T>ACA356877260SGCBc.359A>T (p.His120Leu)
c.442A>T
c.436A>T (n.436A>T)
c.62A>T (p.His21Leu)
c.149A>T (p.His50Leu)
4g.52029748T>CCA356877261SGCBc.359A>G (p.His120Arg)
c.442A>G
c.436A>G (n.436A>G)
c.62A>G (p.His21Arg)
c.149A>G (p.His50Arg)
4g.52029748T>GCA356877262SGCBc.359A>C (p.His120Pro)
c.442A>C
c.436A>C (n.436A>C)
c.62A>C (p.His21Pro)
c.149A>C (p.His50Pro)
4g.52029749G>ACA356877263SGCBc.358C>T (p.His120Tyr)
c.441C>T
c.435C>T (n.435C>T)
c.61C>T (p.His21Tyr)
c.148C>T (p.His50Tyr)
 ClinVar
4g.52029749G>CCA356877264SGCBc.358C>G (p.His120Asp)
c.441C>G
c.435C>G (n.435C>G)
c.61C>G (p.His21Asp)
c.148C>G (p.His50Asp)
4g.52029749G>TCA356877265SGCBc.358C>A (p.His120Asn)
c.441C>A
c.435C>A (n.435C>A)
c.61C>A (p.His21Asn)
c.148C>A (p.His50Asn)
4g.52029750G>ACA439274302SGCBc.357C>T (p.Ile119=)
c.440C>T
c.434C>T (n.434C>T)
c.60C>T (p.Ile20=)
c.147C>T (p.Ile49=)
 ClinVar dbSNP gnomAD v4
4g.52029750G>CCA356877266SGCBc.357C>G (p.Ile119Met)
c.440C>G
c.434C>G (n.434C>G)
c.60C>G (p.Ile20Met)
c.147C>G (p.Ile49Met)
 COSMIC
4g.52029750G>TCA439274303SGCBc.357C>A (p.Ile119=)
c.440C>A
c.434C>A (n.434C>A)
c.60C>A (p.Ile20=)
c.147C>A (p.Ile49=)
4g.52029751A=CA1457429983SGCBc.356T= (p.Ile119=)
c.439T=
c.433T= (n.433T=)
c.59T= (p.Ile20=)
c.146T= (p.Ile49=)
4g.52029751A>CCA356877267SGCBc.356T>G (p.Ile119Ser)
c.439T>G
c.433T>G (n.433T>G)
c.59T>G (p.Ile20Ser)
c.146T>G (p.Ile49Ser)
 dbSNP gnomAD v2
4g.52029751A>GCA356877268SGCBc.356T>C (p.Ile119Thr)
c.439T>C
c.433T>C (n.433T>C)
c.59T>C (p.Ile20Thr)
c.146T>C (p.Ile49Thr)
4g.52029751A>TCA356877269SGCBc.356T>A (p.Ile119Asn)
c.439T>A
c.433T>A (n.433T>A)
c.59T>A (p.Ile20Asn)
c.146T>A (p.Ile49Asn)
4g.52029752T>ACA2918432SGCBc.355A>T (p.Ile119Phe)
c.438A>T
c.432A>T (n.432A>T)
c.58A>T (p.Ile20Phe)
c.145A>T (p.Ile49Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029752T>CCA356877271SGCBc.355A>G (p.Ile119Val)
c.438A>G
c.432A>G (n.432A>G)
c.58A>G (p.Ile20Val)
c.145A>G (p.Ile49Val)
4g.52029752T>GCA356877270SGCBc.355A>C (p.Ile119Leu)
c.438A>C
c.432A>C (n.432A>C)
c.58A>C (p.Ile20Leu)
c.145A>C (p.Ile49Leu)
4g.52029752T=CA1457429984SGCBc.355A= (p.Ile119=)
c.438A=
c.432A= (n.432A=)
c.58A= (p.Ile20=)
c.145A= (p.Ile49=)
4g.52029753C>ACA439274308SGCBc.354G>T (p.Val118=)
c.437G>T
c.431G>T (n.431G>T)
c.57G>T (p.Val19=)
c.144G>T (p.Val48=)
4g.52029753C>GCA439274306SGCBc.354G>C (p.Val118=)
c.437G>C
c.431G>C (n.431G>C)
c.57G>C (p.Val19=)
c.144G>C (p.Val48=)
4g.52029753C>TCA439274305SGCBc.354G>A (p.Val118=)
c.437G>A
c.431G>A (n.431G>A)
c.57G>A (p.Val19=)
c.144G>A (p.Val48=)
4g.52029754A>CCA356877272SGCBc.353T>G (p.Val118Gly)
c.436T>G
c.430T>G (n.430T>G)
c.56T>G (p.Val19Gly)
c.143T>G (p.Val48Gly)
4g.52029754A>GCA356877273SGCBc.353T>C (p.Val118Ala)
c.436T>C
c.430T>C (n.430T>C)
c.56T>C (p.Val19Ala)
c.143T>C (p.Val48Ala)
4g.52029754A>TCA356877274SGCBc.353T>A (p.Val118Glu)
c.436T>A
c.430T>A (n.430T>A)
c.56T>A (p.Val19Glu)
c.143T>A (p.Val48Glu)
4g.52029755C>ACA356877275SGCBc.352G>T (p.Val118Leu)
c.435G>T
c.429G>T (n.429G>T)
c.55G>T (p.Val19Leu)
c.142G>T (p.Val48Leu)
4g.52029755C>GCA356877276SGCBc.352G>C (p.Val118Leu)
c.435G>C
c.429G>C (n.429G>C)
c.55G>C (p.Val19Leu)
c.142G>C (p.Val48Leu)
4g.52029755C>TCA356877277SGCBc.352G>A (p.Val118Met)
c.435G>A
c.429G>A (n.429G>A)
c.55G>A (p.Val19Met)
c.142G>A (p.Val48Met)
 gnomAD v4
4g.52029756T>ACA439274312SGCBc.351A>T (p.Gly117=)
c.434A>T
c.428A>T (n.428A>T)
c.54A>T (p.Gly18=)
c.141A>T (p.Gly47=)
4g.52029756T>CCA439274314SGCBc.351A>G (p.Gly117=)
c.434A>G
c.428A>G (n.428A>G)
c.54A>G (p.Gly18=)
c.141A>G (p.Gly47=)
4g.52029756T>GCA439274315SGCBc.351A>C (p.Gly117=)
c.434A>C
c.428A>C (n.428A>C)
c.54A>C (p.Gly18=)
c.141A>C (p.Gly47=)
4g.52029757C>ACA356877278SGCBc.350G>T (p.Gly117Val)
c.433G>T
c.427G>T (n.427G>T)
c.53G>T (p.Gly18Val)
c.140G>T (p.Gly47Val)
 dbSNP
4g.52029757C=CA1457429985SGCBc.350G= (p.Gly117=)
c.433G=
c.427G= (n.427G=)
c.53G= (p.Gly18=)
c.140G= (p.Gly47=)
4g.52029757C>GCA356877279SGCBc.350G>C (p.Gly117Ala)
c.433G>C
c.427G>C (n.427G>C)
c.53G>C (p.Gly18Ala)
c.140G>C (p.Gly47Ala)
 gnomAD v4
4g.52029757C>TCA356877280SGCBc.350G>A (p.Gly117Glu)
c.433G>A
c.427G>A (n.427G>A)
c.53G>A (p.Gly18Glu)
c.140G>A (p.Gly47Glu)
4g.52029758C>ACA356877281SGCBc.349G>T (p.Gly117Ter)
c.432G>T
c.426G>T (n.426G>T)
c.52G>T (p.Gly18Ter)
c.139G>T (p.Gly47Ter)
4g.52029758C>GCA356877282SGCBc.349G>C (p.Gly117Arg)
c.432G>C
c.426G>C (n.426G>C)
c.52G>C (p.Gly18Arg)
c.139G>C (p.Gly47Arg)
4g.52029758C>TCA356877283SGCBc.349G>A (p.Gly117Arg)
c.432G>A
c.426G>A (n.426G>A)
c.52G>A (p.Gly18Arg)
c.139G>A (p.Gly47Arg)
 gnomAD v4
4g.52029759C>ACA356877284SGCBc.348G>T (p.Met116Ile)
c.431G>T
c.425G>T (n.425G>T)
c.51G>T (p.Met17Ile)
c.138G>T (p.Met46Ile)
4g.52029759C=CA1457429986SGCBc.348G= (p.Met116=)
c.431G=
c.425G= (n.425G=)
c.51G= (p.Met17=)
c.138G= (p.Met46=)
4g.52029759C>GCA2918433SGCBc.348G>C (p.Met116Ile)
c.431G>C
c.425G>C (n.425G>C)
c.51G>C (p.Met17Ile)
c.138G>C (p.Met46Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029759C>TCA356877285SGCBc.348G>A (p.Met116Ile)
c.431G>A
c.425G>A (n.425G>A)
c.51G>A (p.Met17Ile)
c.138G>A (p.Met46Ile)
4g.52029760A>CCA356877286SGCBc.347T>G (p.Met116Arg)
c.430T>G
c.424T>G (n.424T>G)
c.50T>G (p.Met17Arg)
c.137T>G (p.Met46Arg)
4g.52029760A>GCA356877288SGCBc.347T>C (p.Met116Thr)
c.430T>C
c.424T>C (n.424T>C)
c.50T>C (p.Met17Thr)
c.137T>C (p.Met46Thr)
4g.52029760A>TCA356877287SGCBc.347T>A (p.Met116Lys)
c.430T>A
c.424T>A (n.424T>A)
c.50T>A (p.Met17Lys)
c.137T>A (p.Met46Lys)
4g.52029761T>ACA356877289SGCBc.346A>T (p.Met116Leu)
c.429A>T
c.423A>T (n.423A>T)
c.49A>T (p.Met17Leu)
c.136A>T (p.Met46Leu)
4g.52029761T>CCA2918434SGCBc.346A>G (p.Met116Val)
c.429A>G
c.423A>G (n.423A>G)
c.49A>G (p.Met17Val)
c.136A>G (p.Met46Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029761T>GCA356877290SGCBc.346A>C (p.Met116Leu)
c.429A>C
c.423A>C (n.423A>C)
c.49A>C (p.Met17Leu)
c.136A>C (p.Met46Leu)
4g.52029761T=CA1457429987SGCBc.346A= (p.Met116=)
c.429A=
c.423A= (n.423A=)
c.49A= (p.Met17=)
c.136A= (p.Met46=)
4g.52029762G>ACA10605266SGCBc.345C>T (p.Asp115=)
c.428C>T
c.422C>T (n.422C>T)
c.48C>T (p.Asp16=)
c.135C>T (p.Asp45=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.52029762G>CCA356877292SGCBc.345C>G (p.Asp115Glu)
c.428C>G
c.422C>G (n.422C>G)
c.48C>G (p.Asp16Glu)
c.135C>G (p.Asp45Glu)
4g.52029762G=CA1457429988SGCBc.345C= (p.Asp115=)
c.428C=
c.422C= (n.422C=)
c.48C= (p.Asp16=)
c.135C= (p.Asp45=)
4g.52029762G>TCA356877291SGCBc.345C>A (p.Asp115Glu)
c.428C>A
c.422C>A (n.422C>A)
c.48C>A (p.Asp16Glu)
c.135C>A (p.Asp45Glu)
4g.52029763T>ACA356877293SGCBc.344A>T (p.Asp115Val)
c.427A>T
c.421A>T (n.421A>T)
c.47A>T (p.Asp16Val)
c.134A>T (p.Asp45Val)
4g.52029763T>CCA356877295SGCBc.344A>G (p.Asp115Gly)
c.427A>G
c.421A>G (n.421A>G)
c.47A>G (p.Asp16Gly)
c.134A>G (p.Asp45Gly)
4g.52029763T>GCA356877294SGCBc.344A>C (p.Asp115Ala)
c.427A>C
c.421A>C (n.421A>C)
c.47A>C (p.Asp16Ala)
c.134A>C (p.Asp45Ala)
4g.52029764C>ACA356877296SGCBc.343G>T (p.Asp115Tyr)
c.426G>T
c.420G>T (n.420G>T)
c.46G>T (p.Asp16Tyr)
c.133G>T (p.Asp45Tyr)
4g.52029764C=CA1457429989SGCBc.343G= (p.Asp115=)
c.426G=
c.420G= (n.420G=)
c.46G= (p.Asp16=)
c.133G= (p.Asp45=)
4g.52029764C>GCA356877297SGCBc.343G>C (p.Asp115His)
c.426G>C
c.420G>C (n.420G>C)
c.46G>C (p.Asp16His)
c.133G>C (p.Asp45His)
 ClinVar dbSNP
4g.52029764C>TCA356877298SGCBc.343G>A (p.Asp115Asn)
c.426G>A
c.420G>A (n.420G>A)
c.46G>A (p.Asp16Asn)
c.133G>A (p.Asp45Asn)
4g.52029765A>CCA439274323SGCBc.342T>G (p.Ser114=)
c.425T>G
c.419T>G (n.419T>G)
c.45T>G (p.Ser15=)
c.132T>G (p.Ser44=)
4g.52029765A>GCA439274324SGCBc.342T>C (p.Ser114=)
c.425T>C
c.419T>C (n.419T>C)
c.45T>C (p.Ser15=)
c.132T>C (p.Ser44=)
4g.52029765A>TCA439274325SGCBc.342T>A (p.Ser114=)
c.425T>A
c.419T>A (n.419T>A)
c.45T>A (p.Ser15=)
c.132T>A (p.Ser44=)
4g.52029766G>ACA202230SGCBc.341C>T (p.Ser114Phe)
c.424C>T
c.418C>T (n.418C>T)
c.44C>T (p.Ser15Phe)
c.131C>T (p.Ser44Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52029766G>CCA356877299SGCBc.341C>G (p.Ser114Cys)
c.424C>G
c.418C>G (n.418C>G)
c.44C>G (p.Ser15Cys)
c.131C>G (p.Ser44Cys)
4g.52029766G=CA1457429990SGCBc.341C= (p.Ser114=)
c.424C=
c.418C= (n.418C=)
c.44C= (p.Ser15=)
c.131C= (p.Ser44=)
4g.52029766G>TCA356877300SGCBc.341C>A (p.Ser114Tyr)
c.424C>A
c.418C>A (n.418C>A)
c.44C>A (p.Ser15Tyr)
c.131C>A (p.Ser44Tyr)
4g.52029767A>CCA356877301SGCBc.340T>G (p.Ser114Ala)
c.423T>G
c.417T>G (n.417T>G)
c.43T>G (p.Ser15Ala)
c.130T>G (p.Ser44Ala)
4g.52029767A>GCA356877302SGCBc.340T>C (p.Ser114Pro)
c.423T>C
c.417T>C (n.417T>C)
c.43T>C (p.Ser15Pro)
c.130T>C (p.Ser44Pro)
4g.52029767A>TCA356877303SGCBc.340T>A (p.Ser114Thr)
c.423T>A
c.417T>A (n.417T>A)
c.43T>A (p.Ser15Thr)
c.130T>A (p.Ser44Thr)
4g.52029768T>ACA439274329SGCBc.339A>T (p.Val113=)
c.422A>T
c.416A>T (n.416A>T)
c.42A>T (p.Val14=)
c.129A>T (p.Val43=)
4g.52029768T>CCA439274328SGCBc.339A>G (p.Val113=)
c.422A>G
c.416A>G (n.416A>G)
c.42A>G (p.Val14=)
c.129A>G (p.Val43=)
 ClinVar dbSNP gnomAD v4
4g.52029768T>GCA439274327SGCBc.339A>C (p.Val113=)
c.422A>C
c.416A>C (n.416A>C)
c.42A>C (p.Val14=)
c.129A>C (p.Val43=)
4g.52029769A>CCA356877306SGCBc.338T>G (p.Val113Gly)
c.421T>G
c.415T>G (n.415T>G)
c.41T>G (p.Val14Gly)
c.128T>G (p.Val43Gly)
4g.52029769A>GCA356877305SGCBc.338T>C (p.Val113Ala)
c.421T>C
c.415T>C (n.415T>C)
c.41T>C (p.Val14Ala)
c.128T>C (p.Val43Ala)
4g.52029769A>TCA356877304SGCBc.338T>A (p.Val113Glu)
c.421T>A
c.415T>A (n.415T>A)
c.41T>A (p.Val14Glu)
c.128T>A (p.Val43Glu)

Number of alleles fetched