Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.6474465T>A | CA338139066 | PLEKHG5 | c.425A>T (p.Tyr142Phe) c.599A>T (p.Tyr200Phe) c.536A>T (p.Tyr179Phe) n.901A>T c.632A>T (p.Tyr211Phe) c.722A>T (p.Tyr241Phe) c.*637A>T (n.*637A>T) c.*253A>T (n.*253A>T) c.387A>T (n.387A>T) c.656A>T (p.Tyr219Phe) c.593A>T (p.Tyr198Phe) c.662A>T (p.Tyr221Phe) | |
1 | g.6474465T>C | CA561864 | PLEKHG5 | c.425A>G (p.Tyr142Cys) c.599A>G (p.Tyr200Cys) c.536A>G (p.Tyr179Cys) n.901A>G c.632A>G (p.Tyr211Cys) c.722A>G (p.Tyr241Cys) c.*637A>G (n.*637A>G) c.*253A>G (n.*253A>G) c.387A>G (n.387A>G) c.656A>G (p.Tyr219Cys) c.593A>G (p.Tyr198Cys) c.662A>G (p.Tyr221Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6474465T>G | CA338139068 | PLEKHG5 | c.425A>C (p.Tyr142Ser) c.599A>C (p.Tyr200Ser) c.536A>C (p.Tyr179Ser) n.901A>C c.632A>C (p.Tyr211Ser) c.722A>C (p.Tyr241Ser) c.*637A>C (n.*637A>C) c.*253A>C (n.*253A>C) c.387A>C (n.387A>C) c.656A>C (p.Tyr219Ser) c.593A>C (p.Tyr198Ser) c.662A>C (p.Tyr221Ser) | |
1 | g.6474465T= | CA1148453523 | PLEKHG5 | c.425A= (p.Tyr142=) c.599A= (p.Tyr200=) c.536A= (p.Tyr179=) n.901A= c.632A= (p.Tyr211=) c.722A= (p.Tyr241=) c.*637A= (n.*637A=) c.*253A= (n.*253A=) c.387A= (n.387A=) c.656A= (p.Tyr219=) c.593A= (p.Tyr198=) c.662A= (p.Tyr221=) | |
1 | g.6474466A= | CA1151506868 | PLEKHG5 | c.424T= (p.Tyr142=) c.598T= (p.Tyr200=) c.535T= (p.Tyr179=) n.900T= c.631T= (p.Tyr211=) c.721T= (p.Tyr241=) c.*636T= (n.*636T=) c.*252T= (n.*252T=) c.386T= (n.386T=) c.655T= (p.Tyr219=) c.592T= (p.Tyr198=) c.661T= (p.Tyr221=) | |
1 | g.6474466A>C | CA338139069 | PLEKHG5 | c.424T>G (p.Tyr142Asp) c.598T>G (p.Tyr200Asp) c.535T>G (p.Tyr179Asp) n.900T>G c.631T>G (p.Tyr211Asp) c.721T>G (p.Tyr241Asp) c.*636T>G (n.*636T>G) c.*252T>G (n.*252T>G) c.386T>G (n.386T>G) c.655T>G (p.Tyr219Asp) c.592T>G (p.Tyr198Asp) c.661T>G (p.Tyr221Asp) | |
1 | g.6474466A>G | CA338139071 | PLEKHG5 | c.424T>C (p.Tyr142His) c.598T>C (p.Tyr200His) c.535T>C (p.Tyr179His) n.900T>C c.631T>C (p.Tyr211His) c.721T>C (p.Tyr241His) c.*636T>C (n.*636T>C) c.*252T>C (n.*252T>C) c.386T>C (n.386T>C) c.655T>C (p.Tyr219His) c.592T>C (p.Tyr198His) c.661T>C (p.Tyr221His) | dbSNP |
1 | g.6474466A>T | CA338139073 | PLEKHG5 | c.424T>A (p.Tyr142Asn) c.598T>A (p.Tyr200Asn) c.535T>A (p.Tyr179Asn) n.900T>A c.631T>A (p.Tyr211Asn) c.721T>A (p.Tyr241Asn) c.*636T>A (n.*636T>A) c.*252T>A (n.*252T>A) c.386T>A (n.386T>A) c.655T>A (p.Tyr219Asn) c.592T>A (p.Tyr198Asn) c.661T>A (p.Tyr221Asn) | |
1 | g.6474467G>A | CA561865 | PLEKHG5 | c.423C>T (p.His141=) c.597C>T (p.His199=) c.534C>T (p.His178=) n.899C>T c.630C>T (p.His210=) c.720C>T (p.His240=) c.*635C>T (n.*635C>T) c.*251C>T (n.*251C>T) c.385C>T (n.385C>T) c.654C>T (p.His218=) c.591C>T (p.His197=) c.660C>T (p.His220=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6474467G>C | CA338139075 | PLEKHG5 | c.423C>G (p.His141Gln) c.597C>G (p.His199Gln) c.534C>G (p.His178Gln) n.899C>G c.630C>G (p.His210Gln) c.720C>G (p.His240Gln) c.*635C>G (n.*635C>G) c.*251C>G (n.*251C>G) c.385C>G (n.385C>G) c.654C>G (p.His218Gln) c.591C>G (p.His197Gln) c.660C>G (p.His220Gln) | |
1 | g.6474467G= | CA1151506872 | PLEKHG5 | c.423C= (p.His141=) c.597C= (p.His199=) c.534C= (p.His178=) n.899C= c.630C= (p.His210=) c.720C= (p.His240=) c.*635C= (n.*635C=) c.*251C= (n.*251C=) c.385C= (n.385C=) c.654C= (p.His218=) c.591C= (p.His197=) c.660C= (p.His220=) | |
1 | g.6474467G>T | CA338139077 | PLEKHG5 | c.423C>A (p.His141Gln) c.597C>A (p.His199Gln) c.534C>A (p.His178Gln) n.899C>A c.630C>A (p.His210Gln) c.720C>A (p.His240Gln) c.*635C>A (n.*635C>A) c.*251C>A (n.*251C>A) c.385C>A (n.385C>A) c.654C>A (p.His218Gln) c.591C>A (p.His197Gln) c.660C>A (p.His220Gln) | |
1 | g.6474468T>A | CA338139079 | PLEKHG5 | c.422A>T (p.His141Leu) c.596A>T (p.His199Leu) c.533A>T (p.His178Leu) n.898A>T c.629A>T (p.His210Leu) c.719A>T (p.His240Leu) c.*634A>T (n.*634A>T) c.*250A>T (n.*250A>T) c.384A>T (n.384A>T) c.653A>T (p.His218Leu) c.590A>T (p.His197Leu) c.659A>T (p.His220Leu) | |
1 | g.6474468T>C | CA561866 | PLEKHG5 | c.422A>G (p.His141Arg) c.596A>G (p.His199Arg) c.533A>G (p.His178Arg) n.898A>G c.629A>G (p.His210Arg) c.719A>G (p.His240Arg) c.*634A>G (n.*634A>G) c.*250A>G (n.*250A>G) c.384A>G (n.384A>G) c.653A>G (p.His218Arg) c.590A>G (p.His197Arg) c.659A>G (p.His220Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474468T>G | CA338139082 | PLEKHG5 | c.422A>C (p.His141Pro) c.596A>C (p.His199Pro) c.533A>C (p.His178Pro) n.898A>C c.629A>C (p.His210Pro) c.719A>C (p.His240Pro) c.*634A>C (n.*634A>C) c.*250A>C (n.*250A>C) c.384A>C (n.384A>C) c.653A>C (p.His218Pro) c.590A>C (p.His197Pro) c.659A>C (p.His220Pro) | |
1 | g.6474468T= | CA1143828153 | PLEKHG5 | c.422A= (p.His141=) c.596A= (p.His199=) c.533A= (p.His178=) n.898A= c.629A= (p.His210=) c.719A= (p.His240=) c.*634A= (n.*634A=) c.*250A= (n.*250A=) c.384A= (n.384A=) c.653A= (p.His218=) c.590A= (p.His197=) c.659A= (p.His220=) | |
1 | g.6474469G>A | CA338139087 | PLEKHG5 | c.421C>T (p.His141Tyr) c.595C>T (p.His199Tyr) c.532C>T (p.His178Tyr) n.897C>T c.628C>T (p.His210Tyr) c.718C>T (p.His240Tyr) c.*633C>T (n.*633C>T) c.*249C>T (n.*249C>T) c.383C>T (n.383C>T) c.652C>T (p.His218Tyr) c.589C>T (p.His197Tyr) c.658C>T (p.His220Tyr) | |
1 | g.6474469G>C | CA338139084 | PLEKHG5 | c.421C>G (p.His141Asp) c.595C>G (p.His199Asp) c.532C>G (p.His178Asp) n.897C>G c.628C>G (p.His210Asp) c.718C>G (p.His240Asp) c.*633C>G (n.*633C>G) c.*249C>G (n.*249C>G) c.383C>G (n.383C>G) c.652C>G (p.His218Asp) c.589C>G (p.His197Asp) c.658C>G (p.His220Asp) | |
1 | g.6474469G>T | CA338139085 | PLEKHG5 | c.421C>A (p.His141Asn) c.595C>A (p.His199Asn) c.532C>A (p.His178Asn) n.897C>A c.628C>A (p.His210Asn) c.718C>A (p.His240Asn) c.*633C>A (n.*633C>A) c.*249C>A (n.*249C>A) c.383C>A (n.383C>A) c.652C>A (p.His218Asn) c.589C>A (p.His197Asn) c.658C>A (p.His220Asn) | |
1 | g.6474470T>A | CA561867 | PLEKHG5 | c.420A>T (p.Gly140=) c.594A>T (p.Gly198=) c.531A>T (p.Gly177=) n.896A>T c.627A>T (p.Gly209=) c.717A>T (p.Gly239=) c.*632A>T (n.*632A>T) c.*248A>T (n.*248A>T) c.382A>T (n.382A>T) c.651A>T (p.Gly217=) c.588A>T (p.Gly196=) c.657A>T (p.Gly219=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474470T>C | CA415834103 | PLEKHG5 | c.420A>G (p.Gly140=) c.594A>G (p.Gly198=) c.531A>G (p.Gly177=) n.896A>G c.627A>G (p.Gly209=) c.717A>G (p.Gly239=) c.*632A>G (n.*632A>G) c.*248A>G (n.*248A>G) c.382A>G (n.382A>G) c.651A>G (p.Gly217=) c.588A>G (p.Gly196=) c.657A>G (p.Gly219=) | |
1 | g.6474470T>G | CA415834104 | PLEKHG5 | c.420A>C (p.Gly140=) c.594A>C (p.Gly198=) c.531A>C (p.Gly177=) n.896A>C c.627A>C (p.Gly209=) c.717A>C (p.Gly239=) c.*632A>C (n.*632A>C) c.*248A>C (n.*248A>C) c.382A>C (n.382A>C) c.651A>C (p.Gly217=) c.588A>C (p.Gly196=) c.657A>C (p.Gly219=) | |
1 | g.6474470T= | CA1145790547 | PLEKHG5 | c.420A= (p.Gly140=) c.594A= (p.Gly198=) c.531A= (p.Gly177=) n.896A= c.627A= (p.Gly209=) c.717A= (p.Gly239=) c.*632A= (n.*632A=) c.*248A= (n.*248A=) c.382A= (n.382A=) c.651A= (p.Gly217=) c.588A= (p.Gly196=) c.657A= (p.Gly219=) | |
1 | g.6474471C>A | CA338139090 | PLEKHG5 | c.419G>T (p.Gly140Val) c.593G>T (p.Gly198Val) c.530G>T (p.Gly177Val) n.895G>T c.626G>T (p.Gly209Val) c.716G>T (p.Gly239Val) c.*631G>T (n.*631G>T) c.*247G>T (n.*247G>T) c.381G>T (n.381G>T) c.650G>T (p.Gly217Val) c.587G>T (p.Gly196Val) c.656G>T (p.Gly219Val) | |
1 | g.6474471C>G | CA338139091 | PLEKHG5 | c.419G>C (p.Gly140Ala) c.593G>C (p.Gly198Ala) c.530G>C (p.Gly177Ala) n.895G>C c.626G>C (p.Gly209Ala) c.716G>C (p.Gly239Ala) c.*631G>C (n.*631G>C) c.*247G>C (n.*247G>C) c.381G>C (n.381G>C) c.650G>C (p.Gly217Ala) c.587G>C (p.Gly196Ala) c.656G>C (p.Gly219Ala) | |
1 | g.6474471C>T | CA338139093 | PLEKHG5 | c.419G>A (p.Gly140Glu) c.593G>A (p.Gly198Glu) c.530G>A (p.Gly177Glu) n.895G>A c.626G>A (p.Gly209Glu) c.716G>A (p.Gly239Glu) c.*631G>A (n.*631G>A) c.*247G>A (n.*247G>A) c.381G>A (n.381G>A) c.650G>A (p.Gly217Glu) c.587G>A (p.Gly196Glu) c.656G>A (p.Gly219Glu) | |
1 | g.6474475dup | CA2838200295 | PLEKHG5 | c.419dup (p.His141ThrfsTer14) c.593dup (p.His199ThrfsTer14) c.530dup (p.His178ThrfsTer14) n.895dup c.626dup (p.His210ThrfsTer14) c.716dup (p.His240ThrfsTer14) c.*631dup (n.*631dup) c.*247dup (n.*247dup) c.381dup (n.381dup) c.650dup (p.His218ThrfsTer14) c.587dup (p.His197ThrfsTer14) c.656dup (p.His220ThrfsTer14) | |
1 | g.6474475del | CA2642978466 | PLEKHG5 | c.419del (p.Gly140AspfsTer22) c.593del (p.Gly198AspfsTer22) c.530del (p.Gly177AspfsTer22) n.895del c.626del (p.Gly209AspfsTer22) c.716del (p.Gly239AspfsTer22) c.*631del (n.*631del) c.*247del (n.*247del) c.381del (n.381del) c.650del (p.Gly217AspfsTer22) c.587del (p.Gly196AspfsTer22) c.656del (p.Gly219AspfsTer22) | gnomAD v4 |
1 | g.6474472C>A | CA338139095 | PLEKHG5 | c.418G>T (p.Gly140Ter) c.592G>T (p.Gly198Ter) c.529G>T (p.Gly177Ter) n.894G>T c.625G>T (p.Gly209Ter) c.715G>T (p.Gly239Ter) c.*630G>T (n.*630G>T) c.*246G>T (n.*246G>T) c.380G>T (n.380G>T) c.649G>T (p.Gly217Ter) c.586G>T (p.Gly196Ter) c.655G>T (p.Gly219Ter) | |
1 | g.6474472C>G | CA338139097 | PLEKHG5 | c.418G>C (p.Gly140Arg) c.592G>C (p.Gly198Arg) c.529G>C (p.Gly177Arg) n.894G>C c.625G>C (p.Gly209Arg) c.715G>C (p.Gly239Arg) c.*630G>C (n.*630G>C) c.*246G>C (n.*246G>C) c.380G>C (n.380G>C) c.649G>C (p.Gly217Arg) c.586G>C (p.Gly196Arg) c.655G>C (p.Gly219Arg) | gnomAD v4 |
1 | g.6474472C>T | CA338139099 | PLEKHG5 | c.418G>A (p.Gly140Arg) c.592G>A (p.Gly198Arg) c.529G>A (p.Gly177Arg) n.894G>A c.625G>A (p.Gly209Arg) c.715G>A (p.Gly239Arg) c.*630G>A (n.*630G>A) c.*246G>A (n.*246G>A) c.380G>A (n.380G>A) c.649G>A (p.Gly217Arg) c.586G>A (p.Gly196Arg) c.655G>A (p.Gly219Arg) | |
1 | g.6474473C>A | CA415834106 | PLEKHG5 | c.417G>T (p.Gly139=) c.591G>T (p.Gly197=) c.528G>T (p.Gly176=) n.893G>T c.624G>T (p.Gly208=) c.714G>T (p.Gly238=) c.*629G>T (n.*629G>T) c.*245G>T (n.*245G>T) c.379G>T (n.379G>T) c.648G>T (p.Gly216=) c.585G>T (p.Gly195=) c.654G>T (p.Gly218=) | |
1 | g.6474473C= | CA1151506885 | PLEKHG5 | c.417G= (p.Gly139=) c.591G= (p.Gly197=) c.528G= (p.Gly176=) n.893G= c.624G= (p.Gly208=) c.714G= (p.Gly238=) c.*629G= (n.*629G=) c.*245G= (n.*245G=) c.379G= (n.379G=) c.648G= (p.Gly216=) c.585G= (p.Gly195=) c.654G= (p.Gly218=) | |
1 | g.6474473C>G | CA415834107 | PLEKHG5 | c.417G>C (p.Gly139=) c.591G>C (p.Gly197=) c.528G>C (p.Gly176=) n.893G>C c.624G>C (p.Gly208=) c.714G>C (p.Gly238=) c.*629G>C (n.*629G>C) c.*245G>C (n.*245G>C) c.379G>C (n.379G>C) c.648G>C (p.Gly216=) c.585G>C (p.Gly195=) c.654G>C (p.Gly218=) | |
1 | g.6474473C>T | CA415834108 | PLEKHG5 | c.417G>A (p.Gly139=) c.591G>A (p.Gly197=) c.528G>A (p.Gly176=) n.893G>A c.624G>A (p.Gly208=) c.714G>A (p.Gly238=) c.*629G>A (n.*629G>A) c.*245G>A (n.*245G>A) c.379G>A (n.379G>A) c.648G>A (p.Gly216=) c.585G>A (p.Gly195=) c.654G>A (p.Gly218=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474474C>A | CA338139101 | PLEKHG5 | c.416G>T (p.Gly139Val) c.590G>T (p.Gly197Val) c.527G>T (p.Gly176Val) n.892G>T c.623G>T (p.Gly208Val) c.713G>T (p.Gly238Val) c.*628G>T (n.*628G>T) c.*244G>T (n.*244G>T) c.378G>T (n.378G>T) c.647G>T (p.Gly216Val) c.584G>T (p.Gly195Val) c.653G>T (p.Gly218Val) | |
1 | g.6474474C>G | CA338139103 | PLEKHG5 | c.416G>C (p.Gly139Ala) c.590G>C (p.Gly197Ala) c.527G>C (p.Gly176Ala) n.892G>C c.623G>C (p.Gly208Ala) c.713G>C (p.Gly238Ala) c.*628G>C (n.*628G>C) c.*244G>C (n.*244G>C) c.378G>C (n.378G>C) c.647G>C (p.Gly216Ala) c.584G>C (p.Gly195Ala) c.653G>C (p.Gly218Ala) | |
1 | g.6474474C>T | CA338139105 | PLEKHG5 | c.416G>A (p.Gly139Glu) c.590G>A (p.Gly197Glu) c.527G>A (p.Gly176Glu) n.892G>A c.623G>A (p.Gly208Glu) c.713G>A (p.Gly238Glu) c.*628G>A (n.*628G>A) c.*244G>A (n.*244G>A) c.378G>A (n.378G>A) c.647G>A (p.Gly216Glu) c.584G>A (p.Gly195Glu) c.653G>A (p.Gly218Glu) | |
1 | g.6474475C>A | CA338139107 | PLEKHG5 | c.415G>T (p.Gly139Trp) c.589G>T (p.Gly197Trp) c.526G>T (p.Gly176Trp) n.891G>T c.622G>T (p.Gly208Trp) c.712G>T (p.Gly238Trp) c.*627G>T (n.*627G>T) c.*243G>T (n.*243G>T) c.377G>T (n.377G>T) c.646G>T (p.Gly216Trp) c.583G>T (p.Gly195Trp) c.652G>T (p.Gly218Trp) | |
1 | g.6474475C= | CA1151506894 | PLEKHG5 | c.415G= (p.Gly139=) c.589G= (p.Gly197=) c.526G= (p.Gly176=) n.891G= c.622G= (p.Gly208=) c.712G= (p.Gly238=) c.*627G= (n.*627G=) c.*243G= (n.*243G=) c.377G= (n.377G=) c.646G= (p.Gly216=) c.583G= (p.Gly195=) c.652G= (p.Gly218=) | |
1 | g.6474475C>G | CA338139109 | PLEKHG5 | c.415G>C (p.Gly139Arg) c.589G>C (p.Gly197Arg) c.526G>C (p.Gly176Arg) n.891G>C c.622G>C (p.Gly208Arg) c.712G>C (p.Gly238Arg) c.*627G>C (n.*627G>C) c.*243G>C (n.*243G>C) c.377G>C (n.377G>C) c.646G>C (p.Gly216Arg) c.583G>C (p.Gly195Arg) c.652G>C (p.Gly218Arg) | ClinVar dbSNP gnomAD v4 |
1 | g.6474475C>T | CA561868 | PLEKHG5 | c.415G>A (p.Gly139Arg) c.589G>A (p.Gly197Arg) c.526G>A (p.Gly176Arg) n.891G>A c.622G>A (p.Gly208Arg) c.712G>A (p.Gly238Arg) c.*627G>A (n.*627G>A) c.*243G>A (n.*243G>A) c.377G>A (n.377G>A) c.646G>A (p.Gly216Arg) c.583G>A (p.Gly195Arg) c.652G>A (p.Gly218Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.6474476G>A | CA561869 | PLEKHG5 | c.414C>T (p.Phe138=) c.588C>T (p.Phe196=) c.525C>T (p.Phe175=) n.890C>T c.621C>T (p.Phe207=) c.711C>T (p.Phe237=) c.*626C>T (n.*626C>T) c.*242C>T (n.*242C>T) c.376C>T (n.376C>T) c.645C>T (p.Phe215=) c.582C>T (p.Phe194=) c.651C>T (p.Phe217=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.6474476G>C | CA338139115 | PLEKHG5 | c.414C>G (p.Phe138Leu) c.588C>G (p.Phe196Leu) c.525C>G (p.Phe175Leu) n.890C>G c.621C>G (p.Phe207Leu) c.711C>G (p.Phe237Leu) c.*626C>G (n.*626C>G) c.*242C>G (n.*242C>G) c.376C>G (n.376C>G) c.645C>G (p.Phe215Leu) c.582C>G (p.Phe194Leu) c.651C>G (p.Phe217Leu) | |
1 | g.6474476G= | CA1144035698 | PLEKHG5 | c.414C= (p.Phe138=) c.588C= (p.Phe196=) c.525C= (p.Phe175=) n.890C= c.621C= (p.Phe207=) c.711C= (p.Phe237=) c.*626C= (n.*626C=) c.*242C= (n.*242C=) c.376C= (n.376C=) c.645C= (p.Phe215=) c.582C= (p.Phe194=) c.651C= (p.Phe217=) | |
1 | g.6474476G>T | CA338139111 | PLEKHG5 | c.414C>A (p.Phe138Leu) c.588C>A (p.Phe196Leu) c.525C>A (p.Phe175Leu) n.890C>A c.621C>A (p.Phe207Leu) c.711C>A (p.Phe237Leu) c.*626C>A (n.*626C>A) c.*242C>A (n.*242C>A) c.376C>A (n.376C>A) c.645C>A (p.Phe215Leu) c.582C>A (p.Phe194Leu) c.651C>A (p.Phe217Leu) | |
1 | g.6474477A>C | CA338139120 | PLEKHG5 | c.413T>G (p.Phe138Cys) c.587T>G (p.Phe196Cys) c.524T>G (p.Phe175Cys) n.889T>G c.620T>G (p.Phe207Cys) c.710T>G (p.Phe237Cys) c.*625T>G (n.*625T>G) c.*241T>G (n.*241T>G) c.375T>G (n.375T>G) c.644T>G (p.Phe215Cys) c.581T>G (p.Phe194Cys) c.650T>G (p.Phe217Cys) | |
1 | g.6474477A>G | CA338139117 | PLEKHG5 | c.413T>C (p.Phe138Ser) c.587T>C (p.Phe196Ser) c.524T>C (p.Phe175Ser) n.889T>C c.620T>C (p.Phe207Ser) c.710T>C (p.Phe237Ser) c.*625T>C (n.*625T>C) c.*241T>C (n.*241T>C) c.375T>C (n.375T>C) c.644T>C (p.Phe215Ser) c.581T>C (p.Phe194Ser) c.650T>C (p.Phe217Ser) | |
1 | g.6474477A>T | CA338139118 | PLEKHG5 | c.413T>A (p.Phe138Tyr) c.587T>A (p.Phe196Tyr) c.524T>A (p.Phe175Tyr) n.889T>A c.620T>A (p.Phe207Tyr) c.710T>A (p.Phe237Tyr) c.*625T>A (n.*625T>A) c.*241T>A (n.*241T>A) c.375T>A (n.375T>A) c.644T>A (p.Phe215Tyr) c.581T>A (p.Phe194Tyr) c.650T>A (p.Phe217Tyr) | |
1 | g.6474478A= | CA1151506905 | PLEKHG5 | c.412T= (p.Phe138=) c.586T= (p.Phe196=) c.523T= (p.Phe175=) n.888T= c.619T= (p.Phe207=) c.709T= (p.Phe237=) c.*624T= (n.*624T=) c.*240T= (n.*240T=) c.374T= (n.374T=) c.643T= (p.Phe215=) c.580T= (p.Phe194=) c.649T= (p.Phe217=) | |
1 | g.6474478A>C | CA338139121 | PLEKHG5 | c.412T>G (p.Phe138Val) c.586T>G (p.Phe196Val) c.523T>G (p.Phe175Val) n.888T>G c.619T>G (p.Phe207Val) c.709T>G (p.Phe237Val) c.*624T>G (n.*624T>G) c.*240T>G (n.*240T>G) c.374T>G (n.374T>G) c.643T>G (p.Phe215Val) c.580T>G (p.Phe194Val) c.649T>G (p.Phe217Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474478A>G | CA338139122 | PLEKHG5 | c.412T>C (p.Phe138Leu) c.586T>C (p.Phe196Leu) c.523T>C (p.Phe175Leu) n.888T>C c.619T>C (p.Phe207Leu) c.709T>C (p.Phe237Leu) c.*624T>C (n.*624T>C) c.*240T>C (n.*240T>C) c.374T>C (n.374T>C) c.643T>C (p.Phe215Leu) c.580T>C (p.Phe194Leu) c.649T>C (p.Phe217Leu) | ClinVar dbSNP |
1 | g.6474478A>T | CA338139124 | PLEKHG5 | c.412T>A (p.Phe138Ile) c.586T>A (p.Phe196Ile) c.523T>A (p.Phe175Ile) n.888T>A c.619T>A (p.Phe207Ile) c.709T>A (p.Phe237Ile) c.*624T>A (n.*624T>A) c.*240T>A (n.*240T>A) c.374T>A (n.374T>A) c.643T>A (p.Phe215Ile) c.580T>A (p.Phe194Ile) c.649T>A (p.Phe217Ile) | |
1 | g.6474479C>A | CA561870 | PLEKHG5 | c.411G>T (p.Arg137Ser) c.585G>T (p.Arg195Ser) c.522G>T (p.Arg174Ser) n.887G>T c.618G>T (p.Arg206Ser) c.708G>T (p.Arg236Ser) c.*623G>T (n.*623G>T) c.*239G>T (n.*239G>T) c.373G>T (n.373G>T) c.642G>T (p.Arg214Ser) c.579G>T (p.Arg193Ser) c.648G>T (p.Arg216Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474479C= | CA1151506912 | PLEKHG5 | c.411G= (p.Arg137=) c.585G= (p.Arg195=) c.522G= (p.Arg174=) n.887G= c.618G= (p.Arg206=) c.708G= (p.Arg236=) c.*623G= (n.*623G=) c.*239G= (n.*239G=) c.373G= (n.373G=) c.642G= (p.Arg214=) c.579G= (p.Arg193=) c.648G= (p.Arg216=) | |
1 | g.6474479C>G | CA338139126 | PLEKHG5 | c.411G>C (p.Arg137Ser) c.585G>C (p.Arg195Ser) c.522G>C (p.Arg174Ser) n.887G>C c.618G>C (p.Arg206Ser) c.708G>C (p.Arg236Ser) c.*623G>C (n.*623G>C) c.*239G>C (n.*239G>C) c.373G>C (n.373G>C) c.642G>C (p.Arg214Ser) c.579G>C (p.Arg193Ser) c.648G>C (p.Arg216Ser) | |
1 | g.6474479C>T | CA415834109 | PLEKHG5 | c.411G>A (p.Arg137=) c.585G>A (p.Arg195=) c.522G>A (p.Arg174=) n.887G>A c.618G>A (p.Arg206=) c.708G>A (p.Arg236=) c.*623G>A (n.*623G>A) c.*239G>A (n.*239G>A) c.373G>A (n.373G>A) c.642G>A (p.Arg214=) c.579G>A (p.Arg193=) c.648G>A (p.Arg216=) | |
1 | g.6474480C>A | CA338139129 | PLEKHG5 | c.410G>T (p.Arg137Met) c.584G>T (p.Arg195Met) c.521G>T (p.Arg174Met) n.886G>T c.617G>T (p.Arg206Met) c.707G>T (p.Arg236Met) c.*622G>T (n.*622G>T) c.*238G>T (n.*238G>T) c.372G>T (n.372G>T) c.641G>T (p.Arg214Met) c.578G>T (p.Arg193Met) c.647G>T (p.Arg216Met) | |
1 | g.6474480C>G | CA338139132 | PLEKHG5 | c.410G>C (p.Arg137Thr) c.584G>C (p.Arg195Thr) c.521G>C (p.Arg174Thr) n.886G>C c.617G>C (p.Arg206Thr) c.707G>C (p.Arg236Thr) c.*622G>C (n.*622G>C) c.*238G>C (n.*238G>C) c.372G>C (n.372G>C) c.641G>C (p.Arg214Thr) c.578G>C (p.Arg193Thr) c.647G>C (p.Arg216Thr) | |
1 | g.6474480C>T | CA338139130 | PLEKHG5 | c.410G>A (p.Arg137Lys) c.584G>A (p.Arg195Lys) c.521G>A (p.Arg174Lys) n.886G>A c.617G>A (p.Arg206Lys) c.707G>A (p.Arg236Lys) c.*622G>A (n.*622G>A) c.*238G>A (n.*238G>A) c.372G>A (n.372G>A) c.641G>A (p.Arg214Lys) c.578G>A (p.Arg193Lys) c.647G>A (p.Arg216Lys) | |
1 | g.6474481T>A | CA338139133 | PLEKHG5 | c.409A>T (p.Arg137Trp) c.583A>T (p.Arg195Trp) c.520A>T (p.Arg174Trp) n.885A>T c.616A>T (p.Arg206Trp) c.706A>T (p.Arg236Trp) c.*621A>T (n.*621A>T) c.*237A>T (n.*237A>T) c.371A>T (n.371A>T) c.640A>T (p.Arg214Trp) c.577A>T (p.Arg193Trp) c.646A>T (p.Arg216Trp) | |
1 | g.6474481T>C | CA338139135 | PLEKHG5 | c.409A>G (p.Arg137Gly) c.583A>G (p.Arg195Gly) c.520A>G (p.Arg174Gly) n.885A>G c.616A>G (p.Arg206Gly) c.706A>G (p.Arg236Gly) c.*621A>G (n.*621A>G) c.*237A>G (n.*237A>G) c.371A>G (n.371A>G) c.640A>G (p.Arg214Gly) c.577A>G (p.Arg193Gly) c.646A>G (p.Arg216Gly) | |
1 | g.6474481T>G | CA415834110 | PLEKHG5 | c.409A>C (p.Arg137=) c.583A>C (p.Arg195=) c.520A>C (p.Arg174=) n.885A>C c.616A>C (p.Arg206=) c.706A>C (p.Arg236=) c.*621A>C (n.*621A>C) c.*237A>C (n.*237A>C) c.371A>C (n.371A>C) c.640A>C (p.Arg214=) c.577A>C (p.Arg193=) c.646A>C (p.Arg216=) | |
1 | g.6474482G>A | CA415834111 | PLEKHG5 | c.408C>T (p.Tyr136=) c.582C>T (p.Tyr194=) c.519C>T (p.Tyr173=) n.884C>T c.615C>T (p.Tyr205=) c.705C>T (p.Tyr235=) c.*620C>T (n.*620C>T) c.*236C>T (n.*236C>T) c.370C>T (n.370C>T) c.639C>T (p.Tyr213=) c.576C>T (p.Tyr192=) c.645C>T (p.Tyr215=) | |
1 | g.6474482G>C | CA338139138 | PLEKHG5 | c.408C>G (p.Tyr136Ter) c.582C>G (p.Tyr194Ter) c.519C>G (p.Tyr173Ter) n.884C>G c.615C>G (p.Tyr205Ter) c.705C>G (p.Tyr235Ter) c.*620C>G (n.*620C>G) c.*236C>G (n.*236C>G) c.370C>G (n.370C>G) c.639C>G (p.Tyr213Ter) c.576C>G (p.Tyr192Ter) c.645C>G (p.Tyr215Ter) | |
1 | g.6474482G>T | CA338139139 | PLEKHG5 | c.408C>A (p.Tyr136Ter) c.582C>A (p.Tyr194Ter) c.519C>A (p.Tyr173Ter) n.884C>A c.615C>A (p.Tyr205Ter) c.705C>A (p.Tyr235Ter) c.*620C>A (n.*620C>A) c.*236C>A (n.*236C>A) c.370C>A (n.370C>A) c.639C>A (p.Tyr213Ter) c.576C>A (p.Tyr192Ter) c.645C>A (p.Tyr215Ter) | |
1 | g.6474483T>A | CA338139142 | PLEKHG5 | c.407A>T (p.Tyr136Phe) c.581A>T (p.Tyr194Phe) c.518A>T (p.Tyr173Phe) n.883A>T c.614A>T (p.Tyr205Phe) c.704A>T (p.Tyr235Phe) c.*619A>T (n.*619A>T) c.*235A>T (n.*235A>T) c.369A>T (n.369A>T) c.638A>T (p.Tyr213Phe) c.575A>T (p.Tyr192Phe) c.644A>T (p.Tyr215Phe) | |
1 | g.6474483T>C | CA17243754 | PLEKHG5 | c.407A>G (p.Tyr136Cys) c.581A>G (p.Tyr194Cys) c.518A>G (p.Tyr173Cys) n.883A>G c.614A>G (p.Tyr205Cys) c.704A>G (p.Tyr235Cys) c.*619A>G (n.*619A>G) c.*235A>G (n.*235A>G) c.369A>G (n.369A>G) c.638A>G (p.Tyr213Cys) c.575A>G (p.Tyr192Cys) c.644A>G (p.Tyr215Cys) | ClinVar dbSNP gnomAD v4 |
1 | g.6474483T>G | CA338139143 | PLEKHG5 | c.407A>C (p.Tyr136Ser) c.581A>C (p.Tyr194Ser) c.518A>C (p.Tyr173Ser) n.883A>C c.614A>C (p.Tyr205Ser) c.704A>C (p.Tyr235Ser) c.*619A>C (n.*619A>C) c.*235A>C (n.*235A>C) c.369A>C (n.369A>C) c.638A>C (p.Tyr213Ser) c.575A>C (p.Tyr192Ser) c.644A>C (p.Tyr215Ser) | |
1 | g.6474483T= | CA1151506913 | PLEKHG5 | c.407A= (p.Tyr136=) c.581A= (p.Tyr194=) c.518A= (p.Tyr173=) n.883A= c.614A= (p.Tyr205=) c.704A= (p.Tyr235=) c.*619A= (n.*619A=) c.*235A= (n.*235A=) c.369A= (n.369A=) c.638A= (p.Tyr213=) c.575A= (p.Tyr192=) c.644A= (p.Tyr215=) | |
1 | g.6474484A>C | CA338139146 | PLEKHG5 | c.406T>G (p.Tyr136Asp) c.580T>G (p.Tyr194Asp) c.517T>G (p.Tyr173Asp) n.882T>G c.613T>G (p.Tyr205Asp) c.703T>G (p.Tyr235Asp) c.*618T>G (n.*618T>G) c.*234T>G (n.*234T>G) c.368T>G (n.368T>G) c.637T>G (p.Tyr213Asp) c.574T>G (p.Tyr192Asp) c.643T>G (p.Tyr215Asp) | |
1 | g.6474484A>G | CA338139149 | PLEKHG5 | c.406T>C (p.Tyr136His) c.580T>C (p.Tyr194His) c.517T>C (p.Tyr173His) n.882T>C c.613T>C (p.Tyr205His) c.703T>C (p.Tyr235His) c.*618T>C (n.*618T>C) c.*234T>C (n.*234T>C) c.368T>C (n.368T>C) c.637T>C (p.Tyr213His) c.574T>C (p.Tyr192His) c.643T>C (p.Tyr215His) | |
1 | g.6474484A>T | CA338139150 | PLEKHG5 | c.406T>A (p.Tyr136Asn) c.580T>A (p.Tyr194Asn) c.517T>A (p.Tyr173Asn) n.882T>A c.613T>A (p.Tyr205Asn) c.703T>A (p.Tyr235Asn) c.*618T>A (n.*618T>A) c.*234T>A (n.*234T>A) c.368T>A (n.368T>A) c.637T>A (p.Tyr213Asn) c.574T>A (p.Tyr192Asn) c.643T>A (p.Tyr215Asn) | |
1 | g.6474485G>A | CA415834112 | PLEKHG5 | c.405C>T (p.Ala135=) c.579C>T (p.Ala193=) c.516C>T (p.Ala172=) n.881C>T c.612C>T (p.Ala204=) c.702C>T (p.Ala234=) c.*617C>T (n.*617C>T) c.*233C>T (n.*233C>T) c.367C>T (n.367C>T) c.636C>T (p.Ala212=) c.573C>T (p.Ala191=) c.642C>T (p.Ala214=) | |
1 | g.6474485G>C | CA415834113 | PLEKHG5 | c.405C>G (p.Ala135=) c.579C>G (p.Ala193=) c.516C>G (p.Ala172=) n.881C>G c.612C>G (p.Ala204=) c.702C>G (p.Ala234=) c.*617C>G (n.*617C>G) c.*233C>G (n.*233C>G) c.367C>G (n.367C>G) c.636C>G (p.Ala212=) c.573C>G (p.Ala191=) c.642C>G (p.Ala214=) | |
1 | g.6474485G>T | CA415834114 | PLEKHG5 | c.405C>A (p.Ala135=) c.579C>A (p.Ala193=) c.516C>A (p.Ala172=) n.881C>A c.612C>A (p.Ala204=) c.702C>A (p.Ala234=) c.*617C>A (n.*617C>A) c.*233C>A (n.*233C>A) c.367C>A (n.367C>A) c.636C>A (p.Ala212=) c.573C>A (p.Ala191=) c.642C>A (p.Ala214=) | |
1 | g.6474486G>A | CA338139154 | PLEKHG5 | c.404C>T (p.Ala135Val) c.578C>T (p.Ala193Val) c.515C>T (p.Ala172Val) n.880C>T c.611C>T (p.Ala204Val) c.701C>T (p.Ala234Val) c.*616C>T (n.*616C>T) c.*232C>T (n.*232C>T) c.366C>T (n.366C>T) c.635C>T (p.Ala212Val) c.572C>T (p.Ala191Val) c.641C>T (p.Ala214Val) | gnomAD v4 |
1 | g.6474486G>C | CA338139155 | PLEKHG5 | c.404C>G (p.Ala135Gly) c.578C>G (p.Ala193Gly) c.515C>G (p.Ala172Gly) n.880C>G c.611C>G (p.Ala204Gly) c.701C>G (p.Ala234Gly) c.*616C>G (n.*616C>G) c.*232C>G (n.*232C>G) c.366C>G (n.366C>G) c.635C>G (p.Ala212Gly) c.572C>G (p.Ala191Gly) c.641C>G (p.Ala214Gly) | |
1 | g.6474486G>T | CA338139157 | PLEKHG5 | c.404C>A (p.Ala135Asp) c.578C>A (p.Ala193Asp) c.515C>A (p.Ala172Asp) n.880C>A c.611C>A (p.Ala204Asp) c.701C>A (p.Ala234Asp) c.*616C>A (n.*616C>A) c.*232C>A (n.*232C>A) c.366C>A (n.366C>A) c.635C>A (p.Ala212Asp) c.572C>A (p.Ala191Asp) c.641C>A (p.Ala214Asp) | |
1 | g.6474487C>A | CA338139159 | PLEKHG5 | c.403G>T (p.Ala135Ser) c.577G>T (p.Ala193Ser) c.514G>T (p.Ala172Ser) n.879G>T c.610G>T (p.Ala204Ser) c.700G>T (p.Ala234Ser) c.*615G>T (n.*615G>T) c.*231G>T (n.*231G>T) c.365G>T (n.365G>T) c.634G>T (p.Ala212Ser) c.571G>T (p.Ala191Ser) c.640G>T (p.Ala214Ser) | |
1 | g.6474487C>G | CA338139161 | PLEKHG5 | c.403G>C (p.Ala135Pro) c.577G>C (p.Ala193Pro) c.514G>C (p.Ala172Pro) n.879G>C c.610G>C (p.Ala204Pro) c.700G>C (p.Ala234Pro) c.*615G>C (n.*615G>C) c.*231G>C (n.*231G>C) c.365G>C (n.365G>C) c.634G>C (p.Ala212Pro) c.571G>C (p.Ala191Pro) c.640G>C (p.Ala214Pro) | |
1 | g.6474487C>T | CA338139162 | PLEKHG5 | c.403G>A (p.Ala135Thr) c.577G>A (p.Ala193Thr) c.514G>A (p.Ala172Thr) n.879G>A c.610G>A (p.Ala204Thr) c.700G>A (p.Ala234Thr) c.*615G>A (n.*615G>A) c.*231G>A (n.*231G>A) c.365G>A (n.365G>A) c.634G>A (p.Ala212Thr) c.571G>A (p.Ala191Thr) c.640G>A (p.Ala214Thr) | |
1 | g.6474488C>A | CA338139165 | PLEKHG5 | c.402G>T (p.Glu134Asp) c.576G>T (p.Glu192Asp) c.513G>T (p.Glu171Asp) n.878G>T c.609G>T (p.Glu203Asp) c.699G>T (p.Glu233Asp) c.*614G>T (n.*614G>T) c.*230G>T (n.*230G>T) c.364G>T (n.364G>T) c.633G>T (p.Glu211Asp) c.570G>T (p.Glu190Asp) c.639G>T (p.Glu213Asp) | |
1 | g.6474488C>G | CA338139167 | PLEKHG5 | c.402G>C (p.Glu134Asp) c.576G>C (p.Glu192Asp) c.513G>C (p.Glu171Asp) n.878G>C c.609G>C (p.Glu203Asp) c.699G>C (p.Glu233Asp) c.*614G>C (n.*614G>C) c.*230G>C (n.*230G>C) c.364G>C (n.364G>C) c.633G>C (p.Glu211Asp) c.570G>C (p.Glu190Asp) c.639G>C (p.Glu213Asp) | |
1 | g.6474488C>T | CA415834115 | PLEKHG5 | c.402G>A (p.Glu134=) c.576G>A (p.Glu192=) c.513G>A (p.Glu171=) n.878G>A c.609G>A (p.Glu203=) c.699G>A (p.Glu233=) c.*614G>A (n.*614G>A) c.*230G>A (n.*230G>A) c.364G>A (n.364G>A) c.633G>A (p.Glu211=) c.570G>A (p.Glu190=) c.639G>A (p.Glu213=) | gnomAD v4 |
1 | g.6474489T>A | CA338139176 | PLEKHG5 | c.401A>T (p.Glu134Val) c.575A>T (p.Glu192Val) c.512A>T (p.Glu171Val) n.877A>T c.608A>T (p.Glu203Val) c.698A>T (p.Glu233Val) c.*613A>T (n.*613A>T) c.*229A>T (n.*229A>T) c.363A>T (n.363A>T) c.632A>T (p.Glu211Val) c.569A>T (p.Glu190Val) c.638A>T (p.Glu213Val) | |
1 | g.6474489T>C | CA338139171 | PLEKHG5 | c.401A>G (p.Glu134Gly) c.575A>G (p.Glu192Gly) c.512A>G (p.Glu171Gly) n.877A>G c.608A>G (p.Glu203Gly) c.698A>G (p.Glu233Gly) c.*613A>G (n.*613A>G) c.*229A>G (n.*229A>G) c.363A>G (n.363A>G) c.632A>G (p.Glu211Gly) c.569A>G (p.Glu190Gly) c.638A>G (p.Glu213Gly) | |
1 | g.6474489T>G | CA338139169 | PLEKHG5 | c.401A>C (p.Glu134Ala) c.575A>C (p.Glu192Ala) c.512A>C (p.Glu171Ala) n.877A>C c.608A>C (p.Glu203Ala) c.698A>C (p.Glu233Ala) c.*613A>C (n.*613A>C) c.*229A>C (n.*229A>C) c.363A>C (n.363A>C) c.632A>C (p.Glu211Ala) c.569A>C (p.Glu190Ala) c.638A>C (p.Glu213Ala) | |
1 | g.6474490C>A | CA338139178 | PLEKHG5 | c.400G>T (p.Glu134Ter) c.574G>T (p.Glu192Ter) c.511G>T (p.Glu171Ter) n.876G>T c.607G>T (p.Glu203Ter) c.697G>T (p.Glu233Ter) c.*612G>T (n.*612G>T) c.*228G>T (n.*228G>T) c.362G>T (n.362G>T) c.631G>T (p.Glu211Ter) c.568G>T (p.Glu190Ter) c.637G>T (p.Glu213Ter) | |
1 | g.6474490C= | CA1151506919 | PLEKHG5 | c.400G= (p.Glu134=) c.574G= (p.Glu192=) c.511G= (p.Glu171=) n.876G= c.607G= (p.Glu203=) c.697G= (p.Glu233=) c.*612G= (n.*612G=) c.*228G= (n.*228G=) c.362G= (n.362G=) c.631G= (p.Glu211=) c.568G= (p.Glu190=) c.637G= (p.Glu213=) | |
1 | g.6474490C>G | CA338139179 | PLEKHG5 | c.400G>C (p.Glu134Gln) c.574G>C (p.Glu192Gln) c.511G>C (p.Glu171Gln) n.876G>C c.607G>C (p.Glu203Gln) c.697G>C (p.Glu233Gln) c.*612G>C (n.*612G>C) c.*228G>C (n.*228G>C) c.362G>C (n.362G>C) c.631G>C (p.Glu211Gln) c.568G>C (p.Glu190Gln) c.637G>C (p.Glu213Gln) | |
1 | g.6474490C>T | CA561871 | PLEKHG5 | c.400G>A (p.Glu134Lys) c.574G>A (p.Glu192Lys) c.511G>A (p.Glu171Lys) n.876G>A c.607G>A (p.Glu203Lys) c.697G>A (p.Glu233Lys) c.*612G>A (n.*612G>A) c.*228G>A (n.*228G>A) c.362G>A (n.362G>A) c.631G>A (p.Glu211Lys) c.568G>A (p.Glu190Lys) c.637G>A (p.Glu213Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474491G>A | CA561872 | PLEKHG5 | c.399C>T (p.Phe133=) c.573C>T (p.Phe191=) c.510C>T (p.Phe170=) n.875C>T c.606C>T (p.Phe202=) c.696C>T (p.Phe232=) c.*611C>T (n.*611C>T) c.*227C>T (n.*227C>T) c.361C>T (n.361C>T) c.630C>T (p.Phe210=) c.567C>T (p.Phe189=) c.636C>T (p.Phe212=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474491G>C | CA338139180 | PLEKHG5 | c.399C>G (p.Phe133Leu) c.573C>G (p.Phe191Leu) c.510C>G (p.Phe170Leu) n.875C>G c.606C>G (p.Phe202Leu) c.696C>G (p.Phe232Leu) c.*611C>G (n.*611C>G) c.*227C>G (n.*227C>G) c.361C>G (n.361C>G) c.630C>G (p.Phe210Leu) c.567C>G (p.Phe189Leu) c.636C>G (p.Phe212Leu) | |
1 | g.6474491G= | CA1143692785 | PLEKHG5 | c.399C= (p.Phe133=) c.573C= (p.Phe191=) c.510C= (p.Phe170=) n.875C= c.606C= (p.Phe202=) c.696C= (p.Phe232=) c.*611C= (n.*611C=) c.*227C= (n.*227C=) c.361C= (n.361C=) c.630C= (p.Phe210=) c.567C= (p.Phe189=) c.636C= (p.Phe212=) | |
1 | g.6474491G>T | CA338139181 | PLEKHG5 | c.399C>A (p.Phe133Leu) c.573C>A (p.Phe191Leu) c.510C>A (p.Phe170Leu) n.875C>A c.606C>A (p.Phe202Leu) c.696C>A (p.Phe232Leu) c.*611C>A (n.*611C>A) c.*227C>A (n.*227C>A) c.361C>A (n.361C>A) c.630C>A (p.Phe210Leu) c.567C>A (p.Phe189Leu) c.636C>A (p.Phe212Leu) | gnomAD v4 |
1 | g.6474492A>C | CA338139184 | PLEKHG5 | c.398T>G (p.Phe133Cys) c.572T>G (p.Phe191Cys) c.509T>G (p.Phe170Cys) n.874T>G c.605T>G (p.Phe202Cys) c.695T>G (p.Phe232Cys) c.*610T>G (n.*610T>G) c.*226T>G (n.*226T>G) c.360T>G (n.360T>G) c.629T>G (p.Phe210Cys) c.566T>G (p.Phe189Cys) c.635T>G (p.Phe212Cys) | |
1 | g.6474492A>G | CA338139186 | PLEKHG5 | c.398T>C (p.Phe133Ser) c.572T>C (p.Phe191Ser) c.509T>C (p.Phe170Ser) n.874T>C c.605T>C (p.Phe202Ser) c.695T>C (p.Phe232Ser) c.*610T>C (n.*610T>C) c.*226T>C (n.*226T>C) c.360T>C (n.360T>C) c.629T>C (p.Phe210Ser) c.566T>C (p.Phe189Ser) c.635T>C (p.Phe212Ser) | |
1 | g.6474492A>T | CA338139187 | PLEKHG5 | c.398T>A (p.Phe133Tyr) c.572T>A (p.Phe191Tyr) c.509T>A (p.Phe170Tyr) n.874T>A c.605T>A (p.Phe202Tyr) c.695T>A (p.Phe232Tyr) c.*610T>A (n.*610T>A) c.*226T>A (n.*226T>A) c.360T>A (n.360T>A) c.629T>A (p.Phe210Tyr) c.566T>A (p.Phe189Tyr) c.635T>A (p.Phe212Tyr) | |
1 | g.6474493A>C | CA338139190 | PLEKHG5 | c.397T>G (p.Phe133Val) c.571T>G (p.Phe191Val) c.508T>G (p.Phe170Val) n.873T>G c.604T>G (p.Phe202Val) c.694T>G (p.Phe232Val) c.*609T>G (n.*609T>G) c.*225T>G (n.*225T>G) c.359T>G (n.359T>G) c.628T>G (p.Phe210Val) c.565T>G (p.Phe189Val) c.634T>G (p.Phe212Val) | |
1 | g.6474493A>G | CA338139192 | PLEKHG5 | c.397T>C (p.Phe133Leu) c.571T>C (p.Phe191Leu) c.508T>C (p.Phe170Leu) n.873T>C c.604T>C (p.Phe202Leu) c.694T>C (p.Phe232Leu) c.*609T>C (n.*609T>C) c.*225T>C (n.*225T>C) c.359T>C (n.359T>C) c.628T>C (p.Phe210Leu) c.565T>C (p.Phe189Leu) c.634T>C (p.Phe212Leu) | |
1 | g.6474493A>T | CA338139193 | PLEKHG5 | c.397T>A (p.Phe133Ile) c.571T>A (p.Phe191Ile) c.508T>A (p.Phe170Ile) n.873T>A c.604T>A (p.Phe202Ile) c.694T>A (p.Phe232Ile) c.*609T>A (n.*609T>A) c.*225T>A (n.*225T>A) c.359T>A (n.359T>A) c.628T>A (p.Phe210Ile) c.565T>A (p.Phe189Ile) c.634T>A (p.Phe212Ile) | |
1 | g.6474494G>A | CA415834116 | PLEKHG5 | c.396C>T (p.Thr132=) c.570C>T (p.Thr190=) c.507C>T (p.Thr169=) n.872C>T c.603C>T (p.Thr201=) c.693C>T (p.Thr231=) c.*608C>T (n.*608C>T) c.*224C>T (n.*224C>T) c.358C>T (n.358C>T) c.627C>T (p.Thr209=) c.564C>T (p.Thr188=) c.633C>T (p.Thr211=) | gnomAD v4 |
1 | g.6474494G>C | CA415834117 | PLEKHG5 | c.396C>G (p.Thr132=) c.570C>G (p.Thr190=) c.507C>G (p.Thr169=) n.872C>G c.603C>G (p.Thr201=) c.693C>G (p.Thr231=) c.*608C>G (n.*608C>G) c.*224C>G (n.*224C>G) c.358C>G (n.358C>G) c.627C>G (p.Thr209=) c.564C>G (p.Thr188=) c.633C>G (p.Thr211=) | gnomAD v4 |
1 | g.6474494G>T | CA415834118 | PLEKHG5 | c.396C>A (p.Thr132=) c.570C>A (p.Thr190=) c.507C>A (p.Thr169=) n.872C>A c.603C>A (p.Thr201=) c.693C>A (p.Thr231=) c.*608C>A (n.*608C>A) c.*224C>A (n.*224C>A) c.358C>A (n.358C>A) c.627C>A (p.Thr209=) c.564C>A (p.Thr188=) c.633C>A (p.Thr211=) | |
1 | g.6474495G>A | CA561873 | PLEKHG5 | c.395C>T (p.Thr132Ile) c.569C>T (p.Thr190Ile) c.506C>T (p.Thr169Ile) n.871C>T c.602C>T (p.Thr201Ile) c.692C>T (p.Thr231Ile) c.*607C>T (n.*607C>T) c.*223C>T (n.*223C>T) c.357C>T (n.357C>T) c.626C>T (p.Thr209Ile) c.563C>T (p.Thr188Ile) c.632C>T (p.Thr211Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474495G>C | CA338139195 | PLEKHG5 | c.395C>G (p.Thr132Ser) c.569C>G (p.Thr190Ser) c.506C>G (p.Thr169Ser) n.871C>G c.602C>G (p.Thr201Ser) c.692C>G (p.Thr231Ser) c.*607C>G (n.*607C>G) c.*223C>G (n.*223C>G) c.357C>G (n.357C>G) c.626C>G (p.Thr209Ser) c.563C>G (p.Thr188Ser) c.632C>G (p.Thr211Ser) | COSMIC |
1 | g.6474495G= | CA1151506936 | PLEKHG5 | c.395C= (p.Thr132=) c.569C= (p.Thr190=) c.506C= (p.Thr169=) n.871C= c.602C= (p.Thr201=) c.692C= (p.Thr231=) c.*607C= (n.*607C=) c.*223C= (n.*223C=) c.357C= (n.357C=) c.626C= (p.Thr209=) c.563C= (p.Thr188=) c.632C= (p.Thr211=) | |
1 | g.6474495G>T | CA338139194 | PLEKHG5 | c.395C>A (p.Thr132Asn) c.569C>A (p.Thr190Asn) c.506C>A (p.Thr169Asn) n.871C>A c.602C>A (p.Thr201Asn) c.692C>A (p.Thr231Asn) c.*607C>A (n.*607C>A) c.*223C>A (n.*223C>A) c.357C>A (n.357C>A) c.626C>A (p.Thr209Asn) c.563C>A (p.Thr188Asn) c.632C>A (p.Thr211Asn) | |
1 | g.6474496T>A | CA338139198 | PLEKHG5 | c.394A>T (p.Thr132Ser) c.568A>T (p.Thr190Ser) c.505A>T (p.Thr169Ser) n.870A>T c.601A>T (p.Thr201Ser) c.691A>T (p.Thr231Ser) c.*606A>T (n.*606A>T) c.*222A>T (n.*222A>T) c.356A>T (n.356A>T) c.625A>T (p.Thr209Ser) c.562A>T (p.Thr188Ser) c.631A>T (p.Thr211Ser) | |
1 | g.6474496T>C | CA338139199 | PLEKHG5 | c.394A>G (p.Thr132Ala) c.568A>G (p.Thr190Ala) c.505A>G (p.Thr169Ala) n.870A>G c.601A>G (p.Thr201Ala) c.691A>G (p.Thr231Ala) c.*606A>G (n.*606A>G) c.*222A>G (n.*222A>G) c.356A>G (n.356A>G) c.625A>G (p.Thr209Ala) c.562A>G (p.Thr188Ala) c.631A>G (p.Thr211Ala) | gnomAD v4 |
1 | g.6474496T>G | CA338139201 | PLEKHG5 | c.394A>C (p.Thr132Pro) c.568A>C (p.Thr190Pro) c.505A>C (p.Thr169Pro) n.870A>C c.601A>C (p.Thr201Pro) c.691A>C (p.Thr231Pro) c.*606A>C (n.*606A>C) c.*222A>C (n.*222A>C) c.356A>C (n.356A>C) c.625A>C (p.Thr209Pro) c.562A>C (p.Thr188Pro) c.631A>C (p.Thr211Pro) | |
1 | g.6474497G>A | CA561874 | PLEKHG5 | c.393C>T (p.Leu131=) c.567C>T (p.Leu189=) c.504C>T (p.Leu168=) n.869C>T c.600C>T (p.Leu200=) c.690C>T (p.Leu230=) c.*605C>T (n.*605C>T) c.*221C>T (n.*221C>T) c.355C>T (n.355C>T) c.624C>T (p.Leu208=) c.561C>T (p.Leu187=) c.630C>T (p.Leu210=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474497G>C | CA415834119 | PLEKHG5 | c.393C>G (p.Leu131=) c.567C>G (p.Leu189=) c.504C>G (p.Leu168=) n.869C>G c.600C>G (p.Leu200=) c.690C>G (p.Leu230=) c.*605C>G (n.*605C>G) c.*221C>G (n.*221C>G) c.355C>G (n.355C>G) c.624C>G (p.Leu208=) c.561C>G (p.Leu187=) c.630C>G (p.Leu210=) | |
1 | g.6474497G= | CA1151506944 | PLEKHG5 | c.393C= (p.Leu131=) c.567C= (p.Leu189=) c.504C= (p.Leu168=) n.869C= c.600C= (p.Leu200=) c.690C= (p.Leu230=) c.*605C= (n.*605C=) c.*221C= (n.*221C=) c.355C= (n.355C=) c.624C= (p.Leu208=) c.561C= (p.Leu187=) c.630C= (p.Leu210=) | |
1 | g.6474497G>T | CA415834120 | PLEKHG5 | c.393C>A (p.Leu131=) c.567C>A (p.Leu189=) c.504C>A (p.Leu168=) n.869C>A c.600C>A (p.Leu200=) c.690C>A (p.Leu230=) c.*605C>A (n.*605C>A) c.*221C>A (n.*221C>A) c.355C>A (n.355C>A) c.624C>A (p.Leu208=) c.561C>A (p.Leu187=) c.630C>A (p.Leu210=) | |
1 | g.6474498A= | CA1151506950 | PLEKHG5 | c.392T= (p.Leu131=) c.566T= (p.Leu189=) c.503T= (p.Leu168=) n.868T= c.599T= (p.Leu200=) c.689T= (p.Leu230=) c.*604T= (n.*604T=) c.*220T= (n.*220T=) c.354T= (n.354T=) c.623T= (p.Leu208=) c.560T= (p.Leu187=) c.629T= (p.Leu210=) | |
1 | g.6474498A>C | CA338139208 | PLEKHG5 | c.392T>G (p.Leu131Arg) c.566T>G (p.Leu189Arg) c.503T>G (p.Leu168Arg) n.868T>G c.599T>G (p.Leu200Arg) c.689T>G (p.Leu230Arg) c.*604T>G (n.*604T>G) c.*220T>G (n.*220T>G) c.354T>G (n.354T>G) c.623T>G (p.Leu208Arg) c.560T>G (p.Leu187Arg) c.629T>G (p.Leu210Arg) | dbSNP |
1 | g.6474498A>G | CA561875 | PLEKHG5 | c.392T>C (p.Leu131Pro) c.566T>C (p.Leu189Pro) c.503T>C (p.Leu168Pro) n.868T>C c.599T>C (p.Leu200Pro) c.689T>C (p.Leu230Pro) c.*604T>C (n.*604T>C) c.*220T>C (n.*220T>C) c.354T>C (n.354T>C) c.623T>C (p.Leu208Pro) c.560T>C (p.Leu187Pro) c.629T>C (p.Leu210Pro) | dbSNP ExAC gnomAD v4 |
1 | g.6474498A>T | CA338139204 | PLEKHG5 | c.392T>A (p.Leu131His) c.566T>A (p.Leu189His) c.503T>A (p.Leu168His) n.868T>A c.599T>A (p.Leu200His) c.689T>A (p.Leu230His) c.*604T>A (n.*604T>A) c.*220T>A (n.*220T>A) c.354T>A (n.354T>A) c.623T>A (p.Leu208His) c.560T>A (p.Leu187His) c.629T>A (p.Leu210His) | |
1 | g.6474499G>A | CA338139211 | PLEKHG5 | c.391C>T (p.Leu131Phe) c.565C>T (p.Leu189Phe) c.502C>T (p.Leu168Phe) n.867C>T c.598C>T (p.Leu200Phe) c.688C>T (p.Leu230Phe) c.*603C>T (n.*603C>T) c.*219C>T (n.*219C>T) c.353C>T (n.353C>T) c.622C>T (p.Leu208Phe) c.559C>T (p.Leu187Phe) c.628C>T (p.Leu210Phe) | |
1 | g.6474499G>C | CA338139213 | PLEKHG5 | c.391C>G (p.Leu131Val) c.565C>G (p.Leu189Val) c.502C>G (p.Leu168Val) n.867C>G c.598C>G (p.Leu200Val) c.688C>G (p.Leu230Val) c.*603C>G (n.*603C>G) c.*219C>G (n.*219C>G) c.353C>G (n.353C>G) c.622C>G (p.Leu208Val) c.559C>G (p.Leu187Val) c.628C>G (p.Leu210Val) | |
1 | g.6474499G>T | CA338139216 | PLEKHG5 | c.391C>A (p.Leu131Ile) c.565C>A (p.Leu189Ile) c.502C>A (p.Leu168Ile) n.867C>A c.598C>A (p.Leu200Ile) c.688C>A (p.Leu230Ile) c.*603C>A (n.*603C>A) c.*219C>A (n.*219C>A) c.353C>A (n.353C>A) c.622C>A (p.Leu208Ile) c.559C>A (p.Leu187Ile) c.628C>A (p.Leu210Ile) | |
1 | g.6474500G>A | CA415834121 | PLEKHG5 | c.390C>T (p.Ser130=) c.564C>T (p.Ser188=) c.501C>T (p.Ser167=) n.866C>T c.597C>T (p.Ser199=) c.687C>T (p.Ser229=) c.*602C>T (n.*602C>T) c.*218C>T (n.*218C>T) c.352C>T (n.352C>T) c.621C>T (p.Ser207=) c.558C>T (p.Ser186=) c.627C>T (p.Ser209=) | |
1 | g.6474500G>C | CA415834122 | PLEKHG5 | c.390C>G (p.Ser130=) c.564C>G (p.Ser188=) c.501C>G (p.Ser167=) n.866C>G c.597C>G (p.Ser199=) c.687C>G (p.Ser229=) c.*602C>G (n.*602C>G) c.*218C>G (n.*218C>G) c.352C>G (n.352C>G) c.621C>G (p.Ser207=) c.558C>G (p.Ser186=) c.627C>G (p.Ser209=) | |
1 | g.6474500G>T | CA415834123 | PLEKHG5 | c.390C>A (p.Ser130=) c.564C>A (p.Ser188=) c.501C>A (p.Ser167=) n.866C>A c.597C>A (p.Ser199=) c.687C>A (p.Ser229=) c.*602C>A (n.*602C>A) c.*218C>A (n.*218C>A) c.352C>A (n.352C>A) c.621C>A (p.Ser207=) c.558C>A (p.Ser186=) c.627C>A (p.Ser209=) | |
1 | g.6474501G>A | CA338139219 | PLEKHG5 | c.389C>T (p.Ser130Phe) c.563C>T (p.Ser188Phe) c.500C>T (p.Ser167Phe) n.865C>T c.596C>T (p.Ser199Phe) c.686C>T (p.Ser229Phe) c.*601C>T (n.*601C>T) c.*217C>T (n.*217C>T) c.351C>T (n.351C>T) c.620C>T (p.Ser207Phe) c.557C>T (p.Ser186Phe) c.626C>T (p.Ser209Phe) | |
1 | g.6474501G>C | CA338139222 | PLEKHG5 | c.389C>G (p.Ser130Cys) c.563C>G (p.Ser188Cys) c.500C>G (p.Ser167Cys) n.865C>G c.596C>G (p.Ser199Cys) c.686C>G (p.Ser229Cys) c.*601C>G (n.*601C>G) c.*217C>G (n.*217C>G) c.351C>G (n.351C>G) c.620C>G (p.Ser207Cys) c.557C>G (p.Ser186Cys) c.626C>G (p.Ser209Cys) | gnomAD v4 |
1 | g.6474501G>T | CA338139224 | PLEKHG5 | c.389C>A (p.Ser130Tyr) c.563C>A (p.Ser188Tyr) c.500C>A (p.Ser167Tyr) n.865C>A c.596C>A (p.Ser199Tyr) c.686C>A (p.Ser229Tyr) c.*601C>A (n.*601C>A) c.*217C>A (n.*217C>A) c.351C>A (n.351C>A) c.620C>A (p.Ser207Tyr) c.557C>A (p.Ser186Tyr) c.626C>A (p.Ser209Tyr) | COSMIC COSMIC COSMIC |
1 | g.6474502A= | CA1151506963 | PLEKHG5 | c.388T= (p.Ser130=) c.562T= (p.Ser188=) c.499T= (p.Ser167=) n.864T= c.595T= (p.Ser199=) c.685T= (p.Ser229=) c.*600T= (n.*600T=) c.*216T= (n.*216T=) c.350T= (n.350T=) c.619T= (p.Ser207=) c.556T= (p.Ser186=) c.625T= (p.Ser209=) | |
1 | g.6474502A>C | CA338139232 | PLEKHG5 | c.388T>G (p.Ser130Ala) c.562T>G (p.Ser188Ala) c.499T>G (p.Ser167Ala) n.864T>G c.595T>G (p.Ser199Ala) c.685T>G (p.Ser229Ala) c.*600T>G (n.*600T>G) c.*216T>G (n.*216T>G) c.350T>G (n.350T>G) c.619T>G (p.Ser207Ala) c.556T>G (p.Ser186Ala) c.625T>G (p.Ser209Ala) | |
1 | g.6474502A>G | CA338139226 | PLEKHG5 | c.388T>C (p.Ser130Pro) c.562T>C (p.Ser188Pro) c.499T>C (p.Ser167Pro) n.864T>C c.595T>C (p.Ser199Pro) c.685T>C (p.Ser229Pro) c.*600T>C (n.*600T>C) c.*216T>C (n.*216T>C) c.350T>C (n.350T>C) c.619T>C (p.Ser207Pro) c.556T>C (p.Ser186Pro) c.625T>C (p.Ser209Pro) | dbSNP |
1 | g.6474502A>T | CA338139228 | PLEKHG5 | c.388T>A (p.Ser130Thr) c.562T>A (p.Ser188Thr) c.499T>A (p.Ser167Thr) n.864T>A c.595T>A (p.Ser199Thr) c.685T>A (p.Ser229Thr) c.*600T>A (n.*600T>A) c.*216T>A (n.*216T>A) c.350T>A (n.350T>A) c.619T>A (p.Ser207Thr) c.556T>A (p.Ser186Thr) c.625T>A (p.Ser209Thr) | |
1 | g.6474503C>A | CA415834124 | PLEKHG5 | c.387G>T (p.Leu129=) c.561G>T (p.Leu187=) c.498G>T (p.Leu166=) n.863G>T c.594G>T (p.Leu198=) c.684G>T (p.Leu228=) c.*599G>T (n.*599G>T) c.*215G>T (n.*215G>T) c.349G>T (n.349G>T) c.618G>T (p.Leu206=) c.555G>T (p.Leu185=) c.624G>T (p.Leu208=) | |
1 | g.6474503C>G | CA415834125 | PLEKHG5 | c.387G>C (p.Leu129=) c.561G>C (p.Leu187=) c.498G>C (p.Leu166=) n.863G>C c.594G>C (p.Leu198=) c.684G>C (p.Leu228=) c.*599G>C (n.*599G>C) c.*215G>C (n.*215G>C) c.349G>C (n.349G>C) c.618G>C (p.Leu206=) c.555G>C (p.Leu185=) c.624G>C (p.Leu208=) | gnomAD v4 |
1 | g.6474503C>T | CA415834126 | PLEKHG5 | c.387G>A (p.Leu129=) c.561G>A (p.Leu187=) c.498G>A (p.Leu166=) n.863G>A c.594G>A (p.Leu198=) c.684G>A (p.Leu228=) c.*599G>A (n.*599G>A) c.*215G>A (n.*215G>A) c.349G>A (n.349G>A) c.618G>A (p.Leu206=) c.555G>A (p.Leu185=) c.624G>A (p.Leu208=) | gnomAD v4 |
1 | g.6474504del | CA2573132145 | PLEKHG5 | c.386del (p.Leu129ArgfsTer?) c.560del (p.Leu187ArgfsTer?) c.497del (p.Leu166ArgfsTer?) n.862del c.593del (p.Leu198ArgfsTer?) c.683del (p.Leu228ArgfsTer?) c.*598del (n.*598del) c.*214del (n.*214del) c.348del (n.348del) c.617del (p.Leu206ArgfsTer?) c.554del (p.Leu185ArgfsTer?) c.623del (p.Leu208ArgfsTer?) | ClinVar dbSNP |
1 | g.6474504A>C | CA338139234 | PLEKHG5 | c.386T>G (p.Leu129Arg) c.560T>G (p.Leu187Arg) c.497T>G (p.Leu166Arg) n.862T>G c.593T>G (p.Leu198Arg) c.683T>G (p.Leu228Arg) c.*598T>G (n.*598T>G) c.*214T>G (n.*214T>G) c.348T>G (n.348T>G) c.617T>G (p.Leu206Arg) c.554T>G (p.Leu185Arg) c.623T>G (p.Leu208Arg) | |
1 | g.6474504A>G | CA338139237 | PLEKHG5 | c.386T>C (p.Leu129Pro) c.560T>C (p.Leu187Pro) c.497T>C (p.Leu166Pro) n.862T>C c.593T>C (p.Leu198Pro) c.683T>C (p.Leu228Pro) c.*598T>C (n.*598T>C) c.*214T>C (n.*214T>C) c.348T>C (n.348T>C) c.617T>C (p.Leu206Pro) c.554T>C (p.Leu185Pro) c.623T>C (p.Leu208Pro) | |
1 | g.6474504A>T | CA338139235 | PLEKHG5 | c.386T>A (p.Leu129Gln) c.560T>A (p.Leu187Gln) c.497T>A (p.Leu166Gln) n.862T>A c.593T>A (p.Leu198Gln) c.683T>A (p.Leu228Gln) c.*598T>A (n.*598T>A) c.*214T>A (n.*214T>A) c.348T>A (n.348T>A) c.617T>A (p.Leu206Gln) c.554T>A (p.Leu185Gln) c.623T>A (p.Leu208Gln) | |
1 | g.6474505G>A | CA415834127 | PLEKHG5 | c.385C>T (p.Leu129=) c.559C>T (p.Leu187=) c.496C>T (p.Leu166=) n.861C>T c.592C>T (p.Leu198=) c.682C>T (p.Leu228=) c.*597C>T (n.*597C>T) c.*213C>T (n.*213C>T) c.347C>T (n.347C>T) c.616C>T (p.Leu206=) c.553C>T (p.Leu185=) c.622C>T (p.Leu208=) | gnomAD v4 |
1 | g.6474505G>C | CA338139239 | PLEKHG5 | c.385C>G (p.Leu129Val) c.559C>G (p.Leu187Val) c.496C>G (p.Leu166Val) n.861C>G c.592C>G (p.Leu198Val) c.682C>G (p.Leu228Val) c.*597C>G (n.*597C>G) c.*213C>G (n.*213C>G) c.347C>G (n.347C>G) c.616C>G (p.Leu206Val) c.553C>G (p.Leu185Val) c.622C>G (p.Leu208Val) | |
1 | g.6474505G>T | CA338139242 | PLEKHG5 | c.385C>A (p.Leu129Met) c.559C>A (p.Leu187Met) c.496C>A (p.Leu166Met) n.861C>A c.592C>A (p.Leu198Met) c.682C>A (p.Leu228Met) c.*597C>A (n.*597C>A) c.*213C>A (n.*213C>A) c.347C>A (n.347C>A) c.616C>A (p.Leu206Met) c.553C>A (p.Leu185Met) c.622C>A (p.Leu208Met) | |
1 | g.6474506G>A | CA415834128 | PLEKHG5 | c.384C>T (p.Pro128=) c.558C>T (p.Pro186=) c.495C>T (p.Pro165=) n.860C>T c.591C>T (p.Pro197=) c.681C>T (p.Pro227=) c.*596C>T (n.*596C>T) c.*212C>T (n.*212C>T) c.346C>T (n.346C>T) c.615C>T (p.Pro205=) c.552C>T (p.Pro184=) c.621C>T (p.Pro207=) | gnomAD v4 |
1 | g.6474506G>C | CA415834129 | PLEKHG5 | c.384C>G (p.Pro128=) c.558C>G (p.Pro186=) c.495C>G (p.Pro165=) n.860C>G c.591C>G (p.Pro197=) c.681C>G (p.Pro227=) c.*596C>G (n.*596C>G) c.*212C>G (n.*212C>G) c.346C>G (n.346C>G) c.615C>G (p.Pro205=) c.552C>G (p.Pro184=) c.621C>G (p.Pro207=) | dbSNP |
1 | g.6474506G= | CA1151506967 | PLEKHG5 | c.384C= (p.Pro128=) c.558C= (p.Pro186=) c.495C= (p.Pro165=) n.860C= c.591C= (p.Pro197=) c.681C= (p.Pro227=) c.*596C= (n.*596C=) c.*212C= (n.*212C=) c.346C= (n.346C=) c.615C= (p.Pro205=) c.552C= (p.Pro184=) c.621C= (p.Pro207=) | |
1 | g.6474506G>T | CA415834130 | PLEKHG5 | c.384C>A (p.Pro128=) c.558C>A (p.Pro186=) c.495C>A (p.Pro165=) n.860C>A c.591C>A (p.Pro197=) c.681C>A (p.Pro227=) c.*596C>A (n.*596C>A) c.*212C>A (n.*212C>A) c.346C>A (n.346C>A) c.615C>A (p.Pro205=) c.552C>A (p.Pro184=) c.621C>A (p.Pro207=) | |
1 | g.6474507G>A | CA338139245 | PLEKHG5 | c.383C>T (p.Pro128Leu) c.557C>T (p.Pro186Leu) c.494C>T (p.Pro165Leu) n.859C>T c.590C>T (p.Pro197Leu) c.680C>T (p.Pro227Leu) c.*595C>T (n.*595C>T) c.*211C>T (n.*211C>T) c.345C>T (n.345C>T) c.614C>T (p.Pro205Leu) c.551C>T (p.Pro184Leu) c.620C>T (p.Pro207Leu) | |
1 | g.6474507G>C | CA338139247 | PLEKHG5 | c.383C>G (p.Pro128Arg) c.557C>G (p.Pro186Arg) c.494C>G (p.Pro165Arg) n.859C>G c.590C>G (p.Pro197Arg) c.680C>G (p.Pro227Arg) c.*595C>G (n.*595C>G) c.*211C>G (n.*211C>G) c.345C>G (n.345C>G) c.614C>G (p.Pro205Arg) c.551C>G (p.Pro184Arg) c.620C>G (p.Pro207Arg) | |
1 | g.6474507G>T | CA338139249 | PLEKHG5 | c.383C>A (p.Pro128His) c.557C>A (p.Pro186His) c.494C>A (p.Pro165His) n.859C>A c.590C>A (p.Pro197His) c.680C>A (p.Pro227His) c.*595C>A (n.*595C>A) c.*211C>A (n.*211C>A) c.345C>A (n.345C>A) c.614C>A (p.Pro205His) c.551C>A (p.Pro184His) c.620C>A (p.Pro207His) | |
1 | g.6474508G>A | CA338139254 | PLEKHG5 | c.382C>T (p.Pro128Ser) c.556C>T (p.Pro186Ser) c.493C>T (p.Pro165Ser) n.858C>T c.589C>T (p.Pro197Ser) c.679C>T (p.Pro227Ser) c.*594C>T (n.*594C>T) c.*210C>T (n.*210C>T) c.344C>T (n.344C>T) c.613C>T (p.Pro205Ser) c.550C>T (p.Pro184Ser) c.619C>T (p.Pro207Ser) | |
1 | g.6474508G>C | CA338139255 | PLEKHG5 | c.382C>G (p.Pro128Ala) c.556C>G (p.Pro186Ala) c.493C>G (p.Pro165Ala) n.858C>G c.589C>G (p.Pro197Ala) c.679C>G (p.Pro227Ala) c.*594C>G (n.*594C>G) c.*210C>G (n.*210C>G) c.344C>G (n.344C>G) c.613C>G (p.Pro205Ala) c.550C>G (p.Pro184Ala) c.619C>G (p.Pro207Ala) | |
1 | g.6474508G>T | CA338139261 | PLEKHG5 | c.382C>A (p.Pro128Thr) c.556C>A (p.Pro186Thr) c.493C>A (p.Pro165Thr) n.858C>A c.589C>A (p.Pro197Thr) c.679C>A (p.Pro227Thr) c.*594C>A (n.*594C>A) c.*210C>A (n.*210C>A) c.344C>A (n.344C>A) c.613C>A (p.Pro205Thr) c.550C>A (p.Pro184Thr) c.619C>A (p.Pro207Thr) | |
1 | g.6474509T>A | CA415834131 | PLEKHG5 | c.381A>T (p.Thr127=) c.555A>T (p.Thr185=) c.492A>T (p.Thr164=) n.857A>T c.588A>T (p.Thr196=) c.678A>T (p.Thr226=) c.*593A>T (n.*593A>T) c.*209A>T (n.*209A>T) c.343A>T (n.343A>T) c.612A>T (p.Thr204=) c.549A>T (p.Thr183=) c.618A>T (p.Thr206=) | |
1 | g.6474509T>C | CA415834132 | PLEKHG5 | c.381A>G (p.Thr127=) c.555A>G (p.Thr185=) c.492A>G (p.Thr164=) n.857A>G c.588A>G (p.Thr196=) c.678A>G (p.Thr226=) c.*593A>G (n.*593A>G) c.*209A>G (n.*209A>G) c.343A>G (n.343A>G) c.612A>G (p.Thr204=) c.549A>G (p.Thr183=) c.618A>G (p.Thr206=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474509T>G | CA415834133 | PLEKHG5 | c.381A>C (p.Thr127=) c.555A>C (p.Thr185=) c.492A>C (p.Thr164=) n.857A>C c.588A>C (p.Thr196=) c.678A>C (p.Thr226=) c.*593A>C (n.*593A>C) c.*209A>C (n.*209A>C) c.343A>C (n.343A>C) c.612A>C (p.Thr204=) c.549A>C (p.Thr183=) c.618A>C (p.Thr206=) | |
1 | g.6474509T= | CA1151506972 | PLEKHG5 | c.381A= (p.Thr127=) c.555A= (p.Thr185=) c.492A= (p.Thr164=) n.857A= c.588A= (p.Thr196=) c.678A= (p.Thr226=) c.*593A= (n.*593A=) c.*209A= (n.*209A=) c.343A= (n.343A=) c.612A= (p.Thr204=) c.549A= (p.Thr183=) c.618A= (p.Thr206=) | |
1 | g.6474510G>A | CA338139263 | PLEKHG5 | c.380C>T (p.Thr127Ile) c.554C>T (p.Thr185Ile) c.491C>T (p.Thr164Ile) n.856C>T c.587C>T (p.Thr196Ile) c.677C>T (p.Thr226Ile) c.*592C>T (n.*592C>T) c.*208C>T (n.*208C>T) c.342C>T (n.342C>T) c.611C>T (p.Thr204Ile) c.548C>T (p.Thr183Ile) c.617C>T (p.Thr206Ile) | |
1 | g.6474510G>C | CA338139265 | PLEKHG5 | c.380C>G (p.Thr127Arg) c.554C>G (p.Thr185Arg) c.491C>G (p.Thr164Arg) n.856C>G c.587C>G (p.Thr196Arg) c.677C>G (p.Thr226Arg) c.*592C>G (n.*592C>G) c.*208C>G (n.*208C>G) c.342C>G (n.342C>G) c.611C>G (p.Thr204Arg) c.548C>G (p.Thr183Arg) c.617C>G (p.Thr206Arg) | |
1 | g.6474510G>T | CA338139267 | PLEKHG5 | c.380C>A (p.Thr127Lys) c.554C>A (p.Thr185Lys) c.491C>A (p.Thr164Lys) n.856C>A c.587C>A (p.Thr196Lys) c.677C>A (p.Thr226Lys) c.*592C>A (n.*592C>A) c.*208C>A (n.*208C>A) c.342C>A (n.342C>A) c.611C>A (p.Thr204Lys) c.548C>A (p.Thr183Lys) c.617C>A (p.Thr206Lys) | |
1 | g.6474511T>A | CA338139269 | PLEKHG5 | c.379A>T (p.Thr127Ser) c.553A>T (p.Thr185Ser) c.490A>T (p.Thr164Ser) n.855A>T c.586A>T (p.Thr196Ser) c.676A>T (p.Thr226Ser) c.*591A>T (n.*591A>T) c.*207A>T (n.*207A>T) c.341A>T (n.341A>T) c.610A>T (p.Thr204Ser) c.547A>T (p.Thr183Ser) c.616A>T (p.Thr206Ser) | |
1 | g.6474511T>C | CA338139272 | PLEKHG5 | c.379A>G (p.Thr127Ala) c.553A>G (p.Thr185Ala) c.490A>G (p.Thr164Ala) n.855A>G c.586A>G (p.Thr196Ala) c.676A>G (p.Thr226Ala) c.*591A>G (n.*591A>G) c.*207A>G (n.*207A>G) c.341A>G (n.341A>G) c.610A>G (p.Thr204Ala) c.547A>G (p.Thr183Ala) c.616A>G (p.Thr206Ala) | ClinVar dbSNP gnomAD v4 |
1 | g.6474511T>G | CA338139275 | PLEKHG5 | c.379A>C (p.Thr127Pro) c.553A>C (p.Thr185Pro) c.490A>C (p.Thr164Pro) n.855A>C c.586A>C (p.Thr196Pro) c.676A>C (p.Thr226Pro) c.*591A>C (n.*591A>C) c.*207A>C (n.*207A>C) c.341A>C (n.341A>C) c.610A>C (p.Thr204Pro) c.547A>C (p.Thr183Pro) c.616A>C (p.Thr206Pro) | |
1 | g.6474512G>A | CA415834134 | PLEKHG5 | c.378C>T (p.Asn126=) c.552C>T (p.Asn184=) c.489C>T (p.Asn163=) n.854C>T c.585C>T (p.Asn195=) c.675C>T (p.Asn225=) c.*590C>T (n.*590C>T) c.*206C>T (n.*206C>T) c.340C>T (n.340C>T) c.609C>T (p.Asn203=) c.546C>T (p.Asn182=) c.615C>T (p.Asn205=) | |
1 | g.6474512G>C | CA338139281 | PLEKHG5 | c.378C>G (p.Asn126Lys) c.552C>G (p.Asn184Lys) c.489C>G (p.Asn163Lys) n.854C>G c.585C>G (p.Asn195Lys) c.675C>G (p.Asn225Lys) c.*590C>G (n.*590C>G) c.*206C>G (n.*206C>G) c.340C>G (n.340C>G) c.609C>G (p.Asn203Lys) c.546C>G (p.Asn182Lys) c.615C>G (p.Asn205Lys) | |
1 | g.6474512G>T | CA338139277 | PLEKHG5 | c.378C>A (p.Asn126Lys) c.552C>A (p.Asn184Lys) c.489C>A (p.Asn163Lys) n.854C>A c.585C>A (p.Asn195Lys) c.675C>A (p.Asn225Lys) c.*590C>A (n.*590C>A) c.*206C>A (n.*206C>A) c.340C>A (n.340C>A) c.609C>A (p.Asn203Lys) c.546C>A (p.Asn182Lys) c.615C>A (p.Asn205Lys) | |
1 | g.6474513_6474526del | CA2580062705 | PLEKHG5 | c.365_378del (p.Leu122HisfsTer28) c.539_552del (p.Leu180HisfsTer28) c.476_489del (p.Leu159HisfsTer28) n.841_854del c.572_585del (p.Leu191HisfsTer28) c.662_675del (p.Leu221HisfsTer28) c.*577_*590del (n.*577_*590del) c.*193_*206del (n.*193_*206del) c.327_340del (n.327_340del) c.596_609del (p.Leu199HisfsTer28) c.533_546del (p.Leu178HisfsTer28) c.602_615del (p.Leu201HisfsTer28) | ClinVar |
1 | g.6474513T>A | CA338139284 | PLEKHG5 | c.377A>T (p.Asn126Ile) c.551A>T (p.Asn184Ile) c.488A>T (p.Asn163Ile) n.853A>T c.584A>T (p.Asn195Ile) c.674A>T (p.Asn225Ile) c.*589A>T (n.*589A>T) c.*205A>T (n.*205A>T) c.339A>T (n.339A>T) c.608A>T (p.Asn203Ile) c.545A>T (p.Asn182Ile) c.614A>T (p.Asn205Ile) | |
1 | g.6474513T>C | CA338139286 | PLEKHG5 | c.377A>G (p.Asn126Ser) c.551A>G (p.Asn184Ser) c.488A>G (p.Asn163Ser) n.853A>G c.584A>G (p.Asn195Ser) c.674A>G (p.Asn225Ser) c.*589A>G (n.*589A>G) c.*205A>G (n.*205A>G) c.339A>G (n.339A>G) c.608A>G (p.Asn203Ser) c.545A>G (p.Asn182Ser) c.614A>G (p.Asn205Ser) | |
1 | g.6474513T>G | CA338139289 | PLEKHG5 | c.377A>C (p.Asn126Thr) c.551A>C (p.Asn184Thr) c.488A>C (p.Asn163Thr) n.853A>C c.584A>C (p.Asn195Thr) c.674A>C (p.Asn225Thr) c.*589A>C (n.*589A>C) c.*205A>C (n.*205A>C) c.339A>C (n.339A>C) c.608A>C (p.Asn203Thr) c.545A>C (p.Asn182Thr) c.614A>C (p.Asn205Thr) | |
1 | g.6474514T>A | CA338139292 | PLEKHG5 | c.376A>T (p.Asn126Tyr) c.550A>T (p.Asn184Tyr) c.487A>T (p.Asn163Tyr) n.852A>T c.583A>T (p.Asn195Tyr) c.673A>T (p.Asn225Tyr) c.*588A>T (n.*588A>T) c.*204A>T (n.*204A>T) c.338A>T (n.338A>T) c.607A>T (p.Asn203Tyr) c.544A>T (p.Asn182Tyr) c.613A>T (p.Asn205Tyr) | |
1 | g.6474514T>C | CA338139295 | PLEKHG5 | c.376A>G (p.Asn126Asp) c.550A>G (p.Asn184Asp) c.487A>G (p.Asn163Asp) n.852A>G c.583A>G (p.Asn195Asp) c.673A>G (p.Asn225Asp) c.*588A>G (n.*588A>G) c.*204A>G (n.*204A>G) c.338A>G (n.338A>G) c.607A>G (p.Asn203Asp) c.544A>G (p.Asn182Asp) c.613A>G (p.Asn205Asp) | |
1 | g.6474514T>G | CA338139297 | PLEKHG5 | c.376A>C (p.Asn126His) c.550A>C (p.Asn184His) c.487A>C (p.Asn163His) n.852A>C c.583A>C (p.Asn195His) c.673A>C (p.Asn225His) c.*588A>C (n.*588A>C) c.*204A>C (n.*204A>C) c.338A>C (n.338A>C) c.607A>C (p.Asn203His) c.544A>C (p.Asn182His) c.613A>C (p.Asn205His) | |
1 | g.6474515G>A | CA415834135 | PLEKHG5 | c.375C>T (p.Ser125=) c.549C>T (p.Ser183=) c.486C>T (p.Ser162=) n.851C>T c.582C>T (p.Ser194=) c.672C>T (p.Ser224=) c.*587C>T (n.*587C>T) c.*203C>T (n.*203C>T) c.337C>T (n.337C>T) c.606C>T (p.Ser202=) c.543C>T (p.Ser181=) c.612C>T (p.Ser204=) | dbSNP |
1 | g.6474515G>C | CA415834136 | PLEKHG5 | c.375C>G (p.Ser125=) c.549C>G (p.Ser183=) c.486C>G (p.Ser162=) n.851C>G c.582C>G (p.Ser194=) c.672C>G (p.Ser224=) c.*587C>G (n.*587C>G) c.*203C>G (n.*203C>G) c.337C>G (n.337C>G) c.606C>G (p.Ser202=) c.543C>G (p.Ser181=) c.612C>G (p.Ser204=) | |
1 | g.6474515G= | CA1151506993 | PLEKHG5 | c.375C= (p.Ser125=) c.549C= (p.Ser183=) c.486C= (p.Ser162=) n.851C= c.582C= (p.Ser194=) c.672C= (p.Ser224=) c.*587C= (n.*587C=) c.*203C= (n.*203C=) c.337C= (n.337C=) c.606C= (p.Ser202=) c.543C= (p.Ser181=) c.612C= (p.Ser204=) | |
1 | g.6474515G>T | CA415834137 | PLEKHG5 | c.375C>A (p.Ser125=) c.549C>A (p.Ser183=) c.486C>A (p.Ser162=) n.851C>A c.582C>A (p.Ser194=) c.672C>A (p.Ser224=) c.*587C>A (n.*587C>A) c.*203C>A (n.*203C>A) c.337C>A (n.337C>A) c.606C>A (p.Ser202=) c.543C>A (p.Ser181=) c.612C>A (p.Ser204=) | |
1 | g.6474516G>A | CA338139302 | PLEKHG5 | c.374C>T (p.Ser125Phe) c.548C>T (p.Ser183Phe) c.485C>T (p.Ser162Phe) n.850C>T c.581C>T (p.Ser194Phe) c.671C>T (p.Ser224Phe) c.*586C>T (n.*586C>T) c.*202C>T (n.*202C>T) c.336C>T (n.336C>T) c.605C>T (p.Ser202Phe) c.542C>T (p.Ser181Phe) c.611C>T (p.Ser204Phe) | gnomAD v4 |
1 | g.6474516G>C | CA338139307 | PLEKHG5 | c.374C>G (p.Ser125Cys) c.548C>G (p.Ser183Cys) c.485C>G (p.Ser162Cys) n.850C>G c.581C>G (p.Ser194Cys) c.671C>G (p.Ser224Cys) c.*586C>G (n.*586C>G) c.*202C>G (n.*202C>G) c.336C>G (n.336C>G) c.605C>G (p.Ser202Cys) c.542C>G (p.Ser181Cys) c.611C>G (p.Ser204Cys) | |
1 | g.6474516G>T | CA338139309 | PLEKHG5 | c.374C>A (p.Ser125Tyr) c.548C>A (p.Ser183Tyr) c.485C>A (p.Ser162Tyr) n.850C>A c.581C>A (p.Ser194Tyr) c.671C>A (p.Ser224Tyr) c.*586C>A (n.*586C>A) c.*202C>A (n.*202C>A) c.336C>A (n.336C>A) c.605C>A (p.Ser202Tyr) c.542C>A (p.Ser181Tyr) c.611C>A (p.Ser204Tyr) | |
1 | g.6474517A>C | CA338139311 | PLEKHG5 | c.373T>G (p.Ser125Ala) c.547T>G (p.Ser183Ala) c.484T>G (p.Ser162Ala) n.849T>G c.580T>G (p.Ser194Ala) c.670T>G (p.Ser224Ala) c.*585T>G (n.*585T>G) c.*201T>G (n.*201T>G) c.335T>G (n.335T>G) c.604T>G (p.Ser202Ala) c.541T>G (p.Ser181Ala) c.610T>G (p.Ser204Ala) | |
1 | g.6474517A>G | CA338139313 | PLEKHG5 | c.373T>C (p.Ser125Pro) c.547T>C (p.Ser183Pro) c.484T>C (p.Ser162Pro) n.849T>C c.580T>C (p.Ser194Pro) c.670T>C (p.Ser224Pro) c.*585T>C (n.*585T>C) c.*201T>C (n.*201T>C) c.335T>C (n.335T>C) c.604T>C (p.Ser202Pro) c.541T>C (p.Ser181Pro) c.610T>C (p.Ser204Pro) | |
1 | g.6474517A>T | CA338139316 | PLEKHG5 | c.373T>A (p.Ser125Thr) c.547T>A (p.Ser183Thr) c.484T>A (p.Ser162Thr) n.849T>A c.580T>A (p.Ser194Thr) c.670T>A (p.Ser224Thr) c.*585T>A (n.*585T>A) c.*201T>A (n.*201T>A) c.335T>A (n.335T>A) c.604T>A (p.Ser202Thr) c.541T>A (p.Ser181Thr) c.610T>A (p.Ser204Thr) | COSMIC COSMIC COSMIC |
1 | g.6474518C>A | CA338139322 | PLEKHG5 | c.372G>T (p.Gln124His) c.546G>T (p.Gln182His) c.483G>T (p.Gln161His) n.848G>T c.579G>T (p.Gln193His) c.669G>T (p.Gln223His) c.*584G>T (n.*584G>T) c.*200G>T (n.*200G>T) c.334G>T (n.334G>T) c.603G>T (p.Gln201His) c.540G>T (p.Gln180His) c.609G>T (p.Gln203His) | COSMIC COSMIC COSMIC |
1 | g.6474518C>G | CA338139320 | PLEKHG5 | c.372G>C (p.Gln124His) c.546G>C (p.Gln182His) c.483G>C (p.Gln161His) n.848G>C c.579G>C (p.Gln193His) c.669G>C (p.Gln223His) c.*584G>C (n.*584G>C) c.*200G>C (n.*200G>C) c.334G>C (n.334G>C) c.603G>C (p.Gln201His) c.540G>C (p.Gln180His) c.609G>C (p.Gln203His) | |
1 | g.6474518C>T | CA415834138 | PLEKHG5 | c.372G>A (p.Gln124=) c.546G>A (p.Gln182=) c.483G>A (p.Gln161=) n.848G>A c.579G>A (p.Gln193=) c.669G>A (p.Gln223=) c.*584G>A (n.*584G>A) c.*200G>A (n.*200G>A) c.334G>A (n.334G>A) c.603G>A (p.Gln201=) c.540G>A (p.Gln180=) c.609G>A (p.Gln203=) | ClinVar |
1 | g.6474519T>A | CA338139325 | PLEKHG5 | c.371A>T (p.Gln124Leu) c.545A>T (p.Gln182Leu) c.482A>T (p.Gln161Leu) n.847A>T c.578A>T (p.Gln193Leu) c.668A>T (p.Gln223Leu) c.*583A>T (n.*583A>T) c.*199A>T (n.*199A>T) c.333A>T (n.333A>T) c.602A>T (p.Gln201Leu) c.539A>T (p.Gln180Leu) c.608A>T (p.Gln203Leu) | |
1 | g.6474519T>C | CA338139326 | PLEKHG5 | c.371A>G (p.Gln124Arg) c.545A>G (p.Gln182Arg) c.482A>G (p.Gln161Arg) n.847A>G c.578A>G (p.Gln193Arg) c.668A>G (p.Gln223Arg) c.*583A>G (n.*583A>G) c.*199A>G (n.*199A>G) c.333A>G (n.333A>G) c.602A>G (p.Gln201Arg) c.539A>G (p.Gln180Arg) c.608A>G (p.Gln203Arg) | |
1 | g.6474519T>G | CA338139331 | PLEKHG5 | c.371A>C (p.Gln124Pro) c.545A>C (p.Gln182Pro) c.482A>C (p.Gln161Pro) n.847A>C c.578A>C (p.Gln193Pro) c.668A>C (p.Gln223Pro) c.*583A>C (n.*583A>C) c.*199A>C (n.*199A>C) c.333A>C (n.333A>C) c.602A>C (p.Gln201Pro) c.539A>C (p.Gln180Pro) c.608A>C (p.Gln203Pro) | |
1 | g.6474520G>A | CA338139333 | PLEKHG5 | c.370C>T (p.Gln124Ter) c.544C>T (p.Gln182Ter) c.481C>T (p.Gln161Ter) n.846C>T c.577C>T (p.Gln193Ter) c.667C>T (p.Gln223Ter) c.*582C>T (n.*582C>T) c.*198C>T (n.*198C>T) c.332C>T (n.332C>T) c.601C>T (p.Gln201Ter) c.538C>T (p.Gln180Ter) c.607C>T (p.Gln203Ter) | dbSNP |
1 | g.6474520G>C | CA338139335 | PLEKHG5 | c.370C>G (p.Gln124Glu) c.544C>G (p.Gln182Glu) c.481C>G (p.Gln161Glu) n.846C>G c.577C>G (p.Gln193Glu) c.667C>G (p.Gln223Glu) c.*582C>G (n.*582C>G) c.*198C>G (n.*198C>G) c.332C>G (n.332C>G) c.601C>G (p.Gln201Glu) c.538C>G (p.Gln180Glu) c.607C>G (p.Gln203Glu) | gnomAD v4 |
1 | g.6474520G= | CA1151507002 | PLEKHG5 | c.370C= (p.Gln124=) c.544C= (p.Gln182=) c.481C= (p.Gln161=) n.846C= c.577C= (p.Gln193=) c.667C= (p.Gln223=) c.*582C= (n.*582C=) c.*198C= (n.*198C=) c.332C= (n.332C=) c.601C= (p.Gln201=) c.538C= (p.Gln180=) c.607C= (p.Gln203=) | |
1 | g.6474520G>T | CA338139338 | PLEKHG5 | c.370C>A (p.Gln124Lys) c.544C>A (p.Gln182Lys) c.481C>A (p.Gln161Lys) n.846C>A c.577C>A (p.Gln193Lys) c.667C>A (p.Gln223Lys) c.*582C>A (n.*582C>A) c.*198C>A (n.*198C>A) c.332C>A (n.332C>A) c.601C>A (p.Gln201Lys) c.538C>A (p.Gln180Lys) c.607C>A (p.Gln203Lys) | |
1 | g.6474521G>A | CA415834139 | PLEKHG5 | c.369C>T (p.Asp123=) c.543C>T (p.Asp181=) c.480C>T (p.Asp160=) n.845C>T c.576C>T (p.Asp192=) c.666C>T (p.Asp222=) c.*581C>T (n.*581C>T) c.*197C>T (n.*197C>T) c.331C>T (n.331C>T) c.600C>T (p.Asp200=) c.537C>T (p.Asp179=) c.606C>T (p.Asp202=) | ClinVar gnomAD v4 |
1 | g.6474521G>C | CA338139347 | PLEKHG5 | c.369C>G (p.Asp123Glu) c.543C>G (p.Asp181Glu) c.480C>G (p.Asp160Glu) n.845C>G c.576C>G (p.Asp192Glu) c.666C>G (p.Asp222Glu) c.*581C>G (n.*581C>G) c.*197C>G (n.*197C>G) c.331C>G (n.331C>G) c.600C>G (p.Asp200Glu) c.537C>G (p.Asp179Glu) c.606C>G (p.Asp202Glu) | |
1 | g.6474521G>T | CA338139341 | PLEKHG5 | c.369C>A (p.Asp123Glu) c.543C>A (p.Asp181Glu) c.480C>A (p.Asp160Glu) n.845C>A c.576C>A (p.Asp192Glu) c.666C>A (p.Asp222Glu) c.*581C>A (n.*581C>A) c.*197C>A (n.*197C>A) c.331C>A (n.331C>A) c.600C>A (p.Asp200Glu) c.537C>A (p.Asp179Glu) c.606C>A (p.Asp202Glu) | ClinVar |
1 | g.6474522T>A | CA338139349 | PLEKHG5 | c.368A>T (p.Asp123Val) c.542A>T (p.Asp181Val) c.479A>T (p.Asp160Val) n.844A>T c.575A>T (p.Asp192Val) c.665A>T (p.Asp222Val) c.*580A>T (n.*580A>T) c.*196A>T (n.*196A>T) c.330A>T (n.330A>T) c.599A>T (p.Asp200Val) c.536A>T (p.Asp179Val) c.605A>T (p.Asp202Val) | |
1 | g.6474522T>C | CA338139351 | PLEKHG5 | c.368A>G (p.Asp123Gly) c.542A>G (p.Asp181Gly) c.479A>G (p.Asp160Gly) n.844A>G c.575A>G (p.Asp192Gly) c.665A>G (p.Asp222Gly) c.*580A>G (n.*580A>G) c.*196A>G (n.*196A>G) c.330A>G (n.330A>G) c.599A>G (p.Asp200Gly) c.536A>G (p.Asp179Gly) c.605A>G (p.Asp202Gly) | |
1 | g.6474522T>G | CA338139352 | PLEKHG5 | c.368A>C (p.Asp123Ala) c.542A>C (p.Asp181Ala) c.479A>C (p.Asp160Ala) n.844A>C c.575A>C (p.Asp192Ala) c.665A>C (p.Asp222Ala) c.*580A>C (n.*580A>C) c.*196A>C (n.*196A>C) c.330A>C (n.330A>C) c.599A>C (p.Asp200Ala) c.536A>C (p.Asp179Ala) c.605A>C (p.Asp202Ala) | |
1 | g.6474523C>A | CA338139357 | PLEKHG5 | c.367G>T (p.Asp123Tyr) c.541G>T (p.Asp181Tyr) c.478G>T (p.Asp160Tyr) n.843G>T c.574G>T (p.Asp192Tyr) c.664G>T (p.Asp222Tyr) c.*579G>T (n.*579G>T) c.*195G>T (n.*195G>T) c.329G>T (n.329G>T) c.598G>T (p.Asp200Tyr) c.535G>T (p.Asp179Tyr) c.604G>T (p.Asp202Tyr) | |
1 | g.6474523C= | CA1151507007 | PLEKHG5 | c.367G= (p.Asp123=) c.541G= (p.Asp181=) c.478G= (p.Asp160=) n.843G= c.574G= (p.Asp192=) c.664G= (p.Asp222=) c.*579G= (n.*579G=) c.*195G= (n.*195G=) c.329G= (n.329G=) c.598G= (p.Asp200=) c.535G= (p.Asp179=) c.604G= (p.Asp202=) | |
1 | g.6474523C>G | CA338139359 | PLEKHG5 | c.367G>C (p.Asp123His) c.541G>C (p.Asp181His) c.478G>C (p.Asp160His) n.843G>C c.574G>C (p.Asp192His) c.664G>C (p.Asp222His) c.*579G>C (n.*579G>C) c.*195G>C (n.*195G>C) c.329G>C (n.329G>C) c.598G>C (p.Asp200His) c.535G>C (p.Asp179His) c.604G>C (p.Asp202His) | gnomAD v4 |
1 | g.6474523C>T | CA561876 | PLEKHG5 | c.367G>A (p.Asp123Asn) c.541G>A (p.Asp181Asn) c.478G>A (p.Asp160Asn) n.843G>A c.574G>A (p.Asp192Asn) c.664G>A (p.Asp222Asn) c.*579G>A (n.*579G>A) c.*195G>A (n.*195G>A) c.329G>A (n.329G>A) c.598G>A (p.Asp200Asn) c.535G>A (p.Asp179Asn) c.604G>A (p.Asp202Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6474524C>A | CA415834141 | PLEKHG5 | c.366G>T (p.Leu122=) c.540G>T (p.Leu180=) c.477G>T (p.Leu159=) n.842G>T c.573G>T (p.Leu191=) c.663G>T (p.Leu221=) c.*578G>T (n.*578G>T) c.*194G>T (n.*194G>T) c.328G>T (n.328G>T) c.597G>T (p.Leu199=) c.534G>T (p.Leu178=) c.603G>T (p.Leu201=) | |
1 | g.6474524C>G | CA415834140 | PLEKHG5 | c.366G>C (p.Leu122=) c.540G>C (p.Leu180=) c.477G>C (p.Leu159=) n.842G>C c.573G>C (p.Leu191=) c.663G>C (p.Leu221=) c.*578G>C (n.*578G>C) c.*194G>C (n.*194G>C) c.328G>C (n.328G>C) c.597G>C (p.Leu199=) c.534G>C (p.Leu178=) c.603G>C (p.Leu201=) | |
1 | g.6474524C>T | CA415834142 | PLEKHG5 | c.366G>A (p.Leu122=) c.540G>A (p.Leu180=) c.477G>A (p.Leu159=) n.842G>A c.573G>A (p.Leu191=) c.663G>A (p.Leu221=) c.*578G>A (n.*578G>A) c.*194G>A (n.*194G>A) c.328G>A (n.328G>A) c.597G>A (p.Leu199=) c.534G>A (p.Leu178=) c.603G>A (p.Leu201=) | gnomAD v4 |
1 | g.6474525A>C | CA338139366 | PLEKHG5 | c.365T>G (p.Leu122Arg) c.539T>G (p.Leu180Arg) c.476T>G (p.Leu159Arg) n.841T>G c.572T>G (p.Leu191Arg) c.662T>G (p.Leu221Arg) c.*577T>G (n.*577T>G) c.*193T>G (n.*193T>G) c.327T>G (n.327T>G) c.596T>G (p.Leu199Arg) c.533T>G (p.Leu178Arg) c.602T>G (p.Leu201Arg) | |
1 | g.6474525A>G | CA338139371 | PLEKHG5 | c.365T>C (p.Leu122Pro) c.539T>C (p.Leu180Pro) c.476T>C (p.Leu159Pro) n.841T>C c.572T>C (p.Leu191Pro) c.662T>C (p.Leu221Pro) c.*577T>C (n.*577T>C) c.*193T>C (n.*193T>C) c.327T>C (n.327T>C) c.596T>C (p.Leu199Pro) c.533T>C (p.Leu178Pro) c.602T>C (p.Leu201Pro) | |
1 | g.6474525A>T | CA338139368 | PLEKHG5 | c.365T>A (p.Leu122Gln) c.539T>A (p.Leu180Gln) c.476T>A (p.Leu159Gln) n.841T>A c.572T>A (p.Leu191Gln) c.662T>A (p.Leu221Gln) c.*577T>A (n.*577T>A) c.*193T>A (n.*193T>A) c.327T>A (n.327T>A) c.596T>A (p.Leu199Gln) c.533T>A (p.Leu178Gln) c.602T>A (p.Leu201Gln) | |
1 | g.6474526G>A | CA415834143 | PLEKHG5 | c.364C>T (p.Leu122=) c.538C>T (p.Leu180=) c.475C>T (p.Leu159=) n.840C>T c.571C>T (p.Leu191=) c.661C>T (p.Leu221=) c.*576C>T (n.*576C>T) c.*192C>T (n.*192C>T) c.326C>T (n.326C>T) c.595C>T (p.Leu199=) c.532C>T (p.Leu178=) c.601C>T (p.Leu201=) | |
1 | g.6474526G>C | CA338139374 | PLEKHG5 | c.364C>G (p.Leu122Val) c.538C>G (p.Leu180Val) c.475C>G (p.Leu159Val) n.840C>G c.571C>G (p.Leu191Val) c.661C>G (p.Leu221Val) c.*576C>G (n.*576C>G) c.*192C>G (n.*192C>G) c.326C>G (n.326C>G) c.595C>G (p.Leu199Val) c.532C>G (p.Leu178Val) c.601C>G (p.Leu201Val) | |
1 | g.6474526G>T | CA338139376 | PLEKHG5 | c.364C>A (p.Leu122Met) c.538C>A (p.Leu180Met) c.475C>A (p.Leu159Met) n.840C>A c.571C>A (p.Leu191Met) c.661C>A (p.Leu221Met) c.*576C>A (n.*576C>A) c.*192C>A (n.*192C>A) c.326C>A (n.326C>A) c.595C>A (p.Leu199Met) c.532C>A (p.Leu178Met) c.601C>A (p.Leu201Met) | |
1 | g.6474527G>A | CA17243784 | PLEKHG5 | c.363C>T (p.Tyr121=) c.537C>T (p.Tyr179=) c.474C>T (p.Tyr158=) n.839C>T c.570C>T (p.Tyr190=) c.660C>T (p.Tyr220=) c.*575C>T (n.*575C>T) c.*191C>T (n.*191C>T) c.325C>T (n.325C>T) c.594C>T (p.Tyr198=) c.531C>T (p.Tyr177=) c.600C>T (p.Tyr200=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474527G>C | CA338139381 | PLEKHG5 | c.363C>G (p.Tyr121Ter) c.537C>G (p.Tyr179Ter) c.474C>G (p.Tyr158Ter) n.839C>G c.570C>G (p.Tyr190Ter) c.660C>G (p.Tyr220Ter) c.*575C>G (n.*575C>G) c.*191C>G (n.*191C>G) c.325C>G (n.325C>G) c.594C>G (p.Tyr198Ter) c.531C>G (p.Tyr177Ter) c.600C>G (p.Tyr200Ter) | |
1 | g.6474527G= | CA1151507015 | PLEKHG5 | c.363C= (p.Tyr121=) c.537C= (p.Tyr179=) c.474C= (p.Tyr158=) n.839C= c.570C= (p.Tyr190=) c.660C= (p.Tyr220=) c.*575C= (n.*575C=) c.*191C= (n.*191C=) c.325C= (n.325C=) c.594C= (p.Tyr198=) c.531C= (p.Tyr177=) c.600C= (p.Tyr200=) | |
1 | g.6474527G>T | CA338139382 | PLEKHG5 | c.363C>A (p.Tyr121Ter) c.537C>A (p.Tyr179Ter) c.474C>A (p.Tyr158Ter) n.839C>A c.570C>A (p.Tyr190Ter) c.660C>A (p.Tyr220Ter) c.*575C>A (n.*575C>A) c.*191C>A (n.*191C>A) c.325C>A (n.325C>A) c.594C>A (p.Tyr198Ter) c.531C>A (p.Tyr177Ter) c.600C>A (p.Tyr200Ter) | ClinVar |
1 | g.6474528T>A | CA338139386 | PLEKHG5 | c.362A>T (p.Tyr121Phe) c.536A>T (p.Tyr179Phe) c.473A>T (p.Tyr158Phe) n.838A>T c.569A>T (p.Tyr190Phe) c.659A>T (p.Tyr220Phe) c.*574A>T (n.*574A>T) c.*190A>T (n.*190A>T) c.324A>T (n.324A>T) c.593A>T (p.Tyr198Phe) c.530A>T (p.Tyr177Phe) c.599A>T (p.Tyr200Phe) | |
1 | g.6474528T>C | CA338139389 | PLEKHG5 | c.362A>G (p.Tyr121Cys) c.536A>G (p.Tyr179Cys) c.473A>G (p.Tyr158Cys) n.838A>G c.569A>G (p.Tyr190Cys) c.659A>G (p.Tyr220Cys) c.*574A>G (n.*574A>G) c.*190A>G (n.*190A>G) c.324A>G (n.324A>G) c.593A>G (p.Tyr198Cys) c.530A>G (p.Tyr177Cys) c.599A>G (p.Tyr200Cys) | |
1 | g.6474528T>G | CA338139391 | PLEKHG5 | c.362A>C (p.Tyr121Ser) c.536A>C (p.Tyr179Ser) c.473A>C (p.Tyr158Ser) n.838A>C c.569A>C (p.Tyr190Ser) c.659A>C (p.Tyr220Ser) c.*574A>C (n.*574A>C) c.*190A>C (n.*190A>C) c.324A>C (n.324A>C) c.593A>C (p.Tyr198Ser) c.530A>C (p.Tyr177Ser) c.599A>C (p.Tyr200Ser) | |
1 | g.6474529A>C | CA338139396 | PLEKHG5 | c.361T>G (p.Tyr121Asp) c.535T>G (p.Tyr179Asp) c.472T>G (p.Tyr158Asp) n.837T>G c.568T>G (p.Tyr190Asp) c.658T>G (p.Tyr220Asp) c.*573T>G (n.*573T>G) c.*189T>G (n.*189T>G) c.323T>G (n.323T>G) c.592T>G (p.Tyr198Asp) c.529T>G (p.Tyr177Asp) c.598T>G (p.Tyr200Asp) | |
1 | g.6474529A>G | CA338139398 | PLEKHG5 | c.361T>C (p.Tyr121His) c.535T>C (p.Tyr179His) c.472T>C (p.Tyr158His) n.837T>C c.568T>C (p.Tyr190His) c.658T>C (p.Tyr220His) c.*573T>C (n.*573T>C) c.*189T>C (n.*189T>C) c.323T>C (n.323T>C) c.592T>C (p.Tyr198His) c.529T>C (p.Tyr177His) c.598T>C (p.Tyr200His) | gnomAD v4 |
1 | g.6474529A>T | CA338139400 | PLEKHG5 | c.361T>A (p.Tyr121Asn) c.535T>A (p.Tyr179Asn) c.472T>A (p.Tyr158Asn) n.837T>A c.568T>A (p.Tyr190Asn) c.658T>A (p.Tyr220Asn) c.*573T>A (n.*573T>A) c.*189T>A (n.*189T>A) c.323T>A (n.323T>A) c.592T>A (p.Tyr198Asn) c.529T>A (p.Tyr177Asn) c.598T>A (p.Tyr200Asn) | |
1 | g.6474530G>A | CA415834144 | PLEKHG5 | c.360C>T (p.Ile120=) c.534C>T (p.Ile178=) c.471C>T (p.Ile157=) n.836C>T c.567C>T (p.Ile189=) c.657C>T (p.Ile219=) c.*572C>T (n.*572C>T) c.*188C>T (n.*188C>T) c.322C>T (n.322C>T) c.591C>T (p.Ile197=) c.528C>T (p.Ile176=) c.597C>T (p.Ile199=) | dbSNP |
1 | g.6474530G>C | CA338139403 | PLEKHG5 | c.360C>G (p.Ile120Met) c.534C>G (p.Ile178Met) c.471C>G (p.Ile157Met) n.836C>G c.567C>G (p.Ile189Met) c.657C>G (p.Ile219Met) c.*572C>G (n.*572C>G) c.*188C>G (n.*188C>G) c.322C>G (n.322C>G) c.591C>G (p.Ile197Met) c.528C>G (p.Ile176Met) c.597C>G (p.Ile199Met) | |
1 | g.6474530G>T | CA415834145 | PLEKHG5 | c.360C>A (p.Ile120=) c.534C>A (p.Ile178=) c.471C>A (p.Ile157=) n.836C>A c.567C>A (p.Ile189=) c.657C>A (p.Ile219=) c.*572C>A (n.*572C>A) c.*188C>A (n.*188C>A) c.322C>A (n.322C>A) c.591C>A (p.Ile197=) c.528C>A (p.Ile176=) c.597C>A (p.Ile199=) | |
1 | g.6474531A>C | CA338139412 | PLEKHG5 | c.359T>G (p.Ile120Ser) c.533T>G (p.Ile178Ser) c.470T>G (p.Ile157Ser) n.835T>G c.566T>G (p.Ile189Ser) c.656T>G (p.Ile219Ser) c.*571T>G (n.*571T>G) c.*187T>G (n.*187T>G) c.321T>G (n.321T>G) c.590T>G (p.Ile197Ser) c.527T>G (p.Ile176Ser) c.596T>G (p.Ile199Ser) | |
1 | g.6474531A>G | CA338139408 | PLEKHG5 | c.359T>C (p.Ile120Thr) c.533T>C (p.Ile178Thr) c.470T>C (p.Ile157Thr) n.835T>C c.566T>C (p.Ile189Thr) c.656T>C (p.Ile219Thr) c.*571T>C (n.*571T>C) c.*187T>C (n.*187T>C) c.321T>C (n.321T>C) c.590T>C (p.Ile197Thr) c.527T>C (p.Ile176Thr) c.596T>C (p.Ile199Thr) | gnomAD v4 |
1 | g.6474531A>T | CA338139405 | PLEKHG5 | c.359T>A (p.Ile120Asn) c.533T>A (p.Ile178Asn) c.470T>A (p.Ile157Asn) n.835T>A c.566T>A (p.Ile189Asn) c.656T>A (p.Ile219Asn) c.*571T>A (n.*571T>A) c.*187T>A (n.*187T>A) c.321T>A (n.321T>A) c.590T>A (p.Ile197Asn) c.527T>A (p.Ile176Asn) c.596T>A (p.Ile199Asn) | |
1 | g.6474532T>A | CA338139419 | PLEKHG5 | c.358A>T (p.Ile120Phe) c.532A>T (p.Ile178Phe) c.469A>T (p.Ile157Phe) n.834A>T c.565A>T (p.Ile189Phe) c.655A>T (p.Ile219Phe) c.*570A>T (n.*570A>T) c.*186A>T (n.*186A>T) c.320A>T (n.320A>T) c.589A>T (p.Ile197Phe) c.526A>T (p.Ile176Phe) c.595A>T (p.Ile199Phe) | |
1 | g.6474532T>C | CA338139414 | PLEKHG5 | c.358A>G (p.Ile120Val) c.532A>G (p.Ile178Val) c.469A>G (p.Ile157Val) n.834A>G c.565A>G (p.Ile189Val) c.655A>G (p.Ile219Val) c.*570A>G (n.*570A>G) c.*186A>G (n.*186A>G) c.320A>G (n.320A>G) c.589A>G (p.Ile197Val) c.526A>G (p.Ile176Val) c.595A>G (p.Ile199Val) | |
1 | g.6474532T>G | CA338139416 | PLEKHG5 | c.358A>C (p.Ile120Leu) c.532A>C (p.Ile178Leu) c.469A>C (p.Ile157Leu) n.834A>C c.565A>C (p.Ile189Leu) c.655A>C (p.Ile219Leu) c.*570A>C (n.*570A>C) c.*186A>C (n.*186A>C) c.320A>C (n.320A>C) c.589A>C (p.Ile197Leu) c.526A>C (p.Ile176Leu) c.595A>C (p.Ile199Leu) | |
1 | g.6474533G>A | CA415834146 | PLEKHG5 | c.357C>T (p.Asp119=) c.531C>T (p.Asp177=) c.468C>T (p.Asp156=) n.833C>T c.564C>T (p.Asp188=) c.654C>T (p.Asp218=) c.*569C>T (n.*569C>T) c.*185C>T (n.*185C>T) c.319C>T (n.319C>T) c.588C>T (p.Asp196=) c.525C>T (p.Asp175=) c.594C>T (p.Asp198=) | |
1 | g.6474533G>C | CA338139421 | PLEKHG5 | c.357C>G (p.Asp119Glu) c.531C>G (p.Asp177Glu) c.468C>G (p.Asp156Glu) n.833C>G c.564C>G (p.Asp188Glu) c.654C>G (p.Asp218Glu) c.*569C>G (n.*569C>G) c.*185C>G (n.*185C>G) c.319C>G (n.319C>G) c.588C>G (p.Asp196Glu) c.525C>G (p.Asp175Glu) c.594C>G (p.Asp198Glu) | |
1 | g.6474533G>T | CA338139426 | PLEKHG5 | c.357C>A (p.Asp119Glu) c.531C>A (p.Asp177Glu) c.468C>A (p.Asp156Glu) n.833C>A c.564C>A (p.Asp188Glu) c.654C>A (p.Asp218Glu) c.*569C>A (n.*569C>A) c.*185C>A (n.*185C>A) c.319C>A (n.319C>A) c.588C>A (p.Asp196Glu) c.525C>A (p.Asp175Glu) c.594C>A (p.Asp198Glu) | |
1 | g.6474534T>A | CA338139429 | PLEKHG5 | c.356A>T (p.Asp119Val) c.530A>T (p.Asp177Val) c.467A>T (p.Asp156Val) n.832A>T c.563A>T (p.Asp188Val) c.653A>T (p.Asp218Val) c.*568A>T (n.*568A>T) c.*184A>T (n.*184A>T) c.318A>T (n.318A>T) c.587A>T (p.Asp196Val) c.524A>T (p.Asp175Val) c.593A>T (p.Asp198Val) | |
1 | g.6474534T>C | CA338139430 | PLEKHG5 | c.356A>G (p.Asp119Gly) c.530A>G (p.Asp177Gly) c.467A>G (p.Asp156Gly) n.832A>G c.563A>G (p.Asp188Gly) c.653A>G (p.Asp218Gly) c.*568A>G (n.*568A>G) c.*184A>G (n.*184A>G) c.318A>G (n.318A>G) c.587A>G (p.Asp196Gly) c.524A>G (p.Asp175Gly) c.593A>G (p.Asp198Gly) | |
1 | g.6474534T>G | CA338139432 | PLEKHG5 | c.356A>C (p.Asp119Ala) c.530A>C (p.Asp177Ala) c.467A>C (p.Asp156Ala) n.832A>C c.563A>C (p.Asp188Ala) c.653A>C (p.Asp218Ala) c.*568A>C (n.*568A>C) c.*184A>C (n.*184A>C) c.318A>C (n.318A>C) c.587A>C (p.Asp196Ala) c.524A>C (p.Asp175Ala) c.593A>C (p.Asp198Ala) | |
1 | g.6474535C>A | CA338139435 | PLEKHG5 | c.355G>T (p.Asp119Tyr) c.529G>T (p.Asp177Tyr) c.466G>T (p.Asp156Tyr) n.831G>T c.562G>T (p.Asp188Tyr) c.652G>T (p.Asp218Tyr) c.*567G>T (n.*567G>T) c.*183G>T (n.*183G>T) c.317G>T (n.317G>T) c.586G>T (p.Asp196Tyr) c.523G>T (p.Asp175Tyr) c.592G>T (p.Asp198Tyr) | dbSNP |
1 | g.6474535C= | CA1151507021 | PLEKHG5 | c.355G= (p.Asp119=) c.529G= (p.Asp177=) c.466G= (p.Asp156=) n.831G= c.562G= (p.Asp188=) c.652G= (p.Asp218=) c.*567G= (n.*567G=) c.*183G= (n.*183G=) c.317G= (n.317G=) c.586G= (p.Asp196=) c.523G= (p.Asp175=) c.592G= (p.Asp198=) | |
1 | g.6474535C>G | CA338139438 | PLEKHG5 | c.355G>C (p.Asp119His) c.529G>C (p.Asp177His) c.466G>C (p.Asp156His) n.831G>C c.562G>C (p.Asp188His) c.652G>C (p.Asp218His) c.*567G>C (n.*567G>C) c.*183G>C (n.*183G>C) c.317G>C (n.317G>C) c.586G>C (p.Asp196His) c.523G>C (p.Asp175His) c.592G>C (p.Asp198His) | |
1 | g.6474535C>T | CA561877 | PLEKHG5 | c.355G>A (p.Asp119Asn) c.529G>A (p.Asp177Asn) c.466G>A (p.Asp156Asn) n.831G>A c.562G>A (p.Asp188Asn) c.652G>A (p.Asp218Asn) c.*567G>A (n.*567G>A) c.*183G>A (n.*183G>A) c.317G>A (n.317G>A) c.586G>A (p.Asp196Asn) c.523G>A (p.Asp175Asn) c.592G>A (p.Asp198Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6474536C>A | CA415834147 | PLEKHG5 | c.354G>T (p.Val118=) c.528G>T (p.Val176=) c.465G>T (p.Val155=) n.830G>T c.561G>T (p.Val187=) c.651G>T (p.Val217=) c.*566G>T (n.*566G>T) c.*182G>T (n.*182G>T) c.316G>T (n.316G>T) c.585G>T (p.Val195=) c.522G>T (p.Val174=) c.591G>T (p.Val197=) | |
1 | g.6474536C>G | CA415834148 | PLEKHG5 | c.354G>C (p.Val118=) c.528G>C (p.Val176=) c.465G>C (p.Val155=) n.830G>C c.561G>C (p.Val187=) c.651G>C (p.Val217=) c.*566G>C (n.*566G>C) c.*182G>C (n.*182G>C) c.316G>C (n.316G>C) c.585G>C (p.Val195=) c.522G>C (p.Val174=) c.591G>C (p.Val197=) | |
1 | g.6474536C>T | CA415834149 | PLEKHG5 | c.354G>A (p.Val118=) c.528G>A (p.Val176=) c.465G>A (p.Val155=) n.830G>A c.561G>A (p.Val187=) c.651G>A (p.Val217=) c.*566G>A (n.*566G>A) c.*182G>A (n.*182G>A) c.316G>A (n.316G>A) c.585G>A (p.Val195=) c.522G>A (p.Val174=) c.591G>A (p.Val197=) | |
1 | g.6474537A>C | CA338139442 | PLEKHG5 | c.353T>G (p.Val118Gly) c.527T>G (p.Val176Gly) c.464T>G (p.Val155Gly) n.829T>G c.560T>G (p.Val187Gly) c.650T>G (p.Val217Gly) c.*565T>G (n.*565T>G) c.*181T>G (n.*181T>G) c.315T>G (n.315T>G) c.584T>G (p.Val195Gly) c.521T>G (p.Val174Gly) c.590T>G (p.Val197Gly) | |
1 | g.6474537A>G | CA338139445 | PLEKHG5 | c.353T>C (p.Val118Ala) c.527T>C (p.Val176Ala) c.464T>C (p.Val155Ala) n.829T>C c.560T>C (p.Val187Ala) c.650T>C (p.Val217Ala) c.*565T>C (n.*565T>C) c.*181T>C (n.*181T>C) c.315T>C (n.315T>C) c.584T>C (p.Val195Ala) c.521T>C (p.Val174Ala) c.590T>C (p.Val197Ala) | |
1 | g.6474537A>T | CA338139447 | PLEKHG5 | c.353T>A (p.Val118Glu) c.527T>A (p.Val176Glu) c.464T>A (p.Val155Glu) n.829T>A c.560T>A (p.Val187Glu) c.650T>A (p.Val217Glu) c.*565T>A (n.*565T>A) c.*181T>A (n.*181T>A) c.315T>A (n.315T>A) c.584T>A (p.Val195Glu) c.521T>A (p.Val174Glu) c.590T>A (p.Val197Glu) | |
1 | g.6474538C>A | CA338139453 | PLEKHG5 | c.352G>T (p.Val118Leu) c.526G>T (p.Val176Leu) c.463G>T (p.Val155Leu) n.828G>T c.559G>T (p.Val187Leu) c.649G>T (p.Val217Leu) c.*564G>T (n.*564G>T) c.*180G>T (n.*180G>T) c.314G>T (n.314G>T) c.583G>T (p.Val195Leu) c.520G>T (p.Val174Leu) c.589G>T (p.Val197Leu) | |
1 | g.6474538C>G | CA338139451 | PLEKHG5 | c.352G>C (p.Val118Leu) c.526G>C (p.Val176Leu) c.463G>C (p.Val155Leu) n.828G>C c.559G>C (p.Val187Leu) c.649G>C (p.Val217Leu) c.*564G>C (n.*564G>C) c.*180G>C (n.*180G>C) c.314G>C (n.314G>C) c.583G>C (p.Val195Leu) c.520G>C (p.Val174Leu) c.589G>C (p.Val197Leu) | |
1 | g.6474538C>T | CA338139450 | PLEKHG5 | c.352G>A (p.Val118Met) c.526G>A (p.Val176Met) c.463G>A (p.Val155Met) n.828G>A c.559G>A (p.Val187Met) c.649G>A (p.Val217Met) c.*564G>A (n.*564G>A) c.*180G>A (n.*180G>A) c.314G>A (n.314G>A) c.583G>A (p.Val195Met) c.520G>A (p.Val174Met) c.589G>A (p.Val197Met) | ClinVar |
1 | g.6474539T>A | CA338139456 | PLEKHG5 | c.351A>T (p.Lys117Asn) c.525A>T (p.Lys175Asn) c.462A>T (p.Lys154Asn) n.827A>T c.558A>T (p.Lys186Asn) c.648A>T (p.Lys216Asn) c.*563A>T (n.*563A>T) c.*179A>T (n.*179A>T) c.313A>T (n.313A>T) c.582A>T (p.Lys194Asn) c.519A>T (p.Lys173Asn) c.588A>T (p.Lys196Asn) | |
1 | g.6474539T>C | CA415834150 | PLEKHG5 | c.351A>G (p.Lys117=) c.525A>G (p.Lys175=) c.462A>G (p.Lys154=) n.827A>G c.558A>G (p.Lys186=) c.648A>G (p.Lys216=) c.*563A>G (n.*563A>G) c.*179A>G (n.*179A>G) c.313A>G (n.313A>G) c.582A>G (p.Lys194=) c.519A>G (p.Lys173=) c.588A>G (p.Lys196=) | |
1 | g.6474539T>G | CA338139457 | PLEKHG5 | c.351A>C (p.Lys117Asn) c.525A>C (p.Lys175Asn) c.462A>C (p.Lys154Asn) n.827A>C c.558A>C (p.Lys186Asn) c.648A>C (p.Lys216Asn) c.*563A>C (n.*563A>C) c.*179A>C (n.*179A>C) c.313A>C (n.313A>C) c.582A>C (p.Lys194Asn) c.519A>C (p.Lys173Asn) c.588A>C (p.Lys196Asn) | |
1 | g.6474540T>A | CA338139459 | PLEKHG5 | c.350A>T (p.Lys117Ile) c.524A>T (p.Lys175Ile) c.461A>T (p.Lys154Ile) n.826A>T c.557A>T (p.Lys186Ile) c.647A>T (p.Lys216Ile) c.*562A>T (n.*562A>T) c.*178A>T (n.*178A>T) c.312A>T (n.312A>T) c.581A>T (p.Lys194Ile) c.518A>T (p.Lys173Ile) c.587A>T (p.Lys196Ile) | |
1 | g.6474540T>C | CA561878 | PLEKHG5 | c.350A>G (p.Lys117Arg) c.524A>G (p.Lys175Arg) c.461A>G (p.Lys154Arg) n.826A>G c.557A>G (p.Lys186Arg) c.647A>G (p.Lys216Arg) c.*562A>G (n.*562A>G) c.*178A>G (n.*178A>G) c.312A>G (n.312A>G) c.581A>G (p.Lys194Arg) c.518A>G (p.Lys173Arg) c.587A>G (p.Lys196Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474540T>G | CA338139461 | PLEKHG5 | c.350A>C (p.Lys117Thr) c.524A>C (p.Lys175Thr) c.461A>C (p.Lys154Thr) n.826A>C c.557A>C (p.Lys186Thr) c.647A>C (p.Lys216Thr) c.*562A>C (n.*562A>C) c.*178A>C (n.*178A>C) c.312A>C (n.312A>C) c.581A>C (p.Lys194Thr) c.518A>C (p.Lys173Thr) c.587A>C (p.Lys196Thr) | |
1 | g.6474540T= | CA1143464780 | PLEKHG5 | c.350A= (p.Lys117=) c.524A= (p.Lys175=) c.461A= (p.Lys154=) n.826A= c.557A= (p.Lys186=) c.647A= (p.Lys216=) c.*562A= (n.*562A=) c.*178A= (n.*178A=) c.312A= (n.312A=) c.581A= (p.Lys194=) c.518A= (p.Lys173=) c.587A= (p.Lys196=) | |
1 | g.6474541T>A | CA338139464 | PLEKHG5 | c.349A>T (p.Lys117Ter) c.523A>T (p.Lys175Ter) c.460A>T (p.Lys154Ter) n.825A>T c.556A>T (p.Lys186Ter) c.646A>T (p.Lys216Ter) c.*561A>T (n.*561A>T) c.*177A>T (n.*177A>T) c.311A>T (n.311A>T) c.580A>T (p.Lys194Ter) c.517A>T (p.Lys173Ter) c.586A>T (p.Lys196Ter) | |
1 | g.6474541T>C | CA338139465 | PLEKHG5 | c.349A>G (p.Lys117Glu) c.523A>G (p.Lys175Glu) c.460A>G (p.Lys154Glu) n.825A>G c.556A>G (p.Lys186Glu) c.646A>G (p.Lys216Glu) c.*561A>G (n.*561A>G) c.*177A>G (n.*177A>G) c.311A>G (n.311A>G) c.580A>G (p.Lys194Glu) c.517A>G (p.Lys173Glu) c.586A>G (p.Lys196Glu) | |
1 | g.6474541T>G | CA338139467 | PLEKHG5 | c.349A>C (p.Lys117Gln) c.523A>C (p.Lys175Gln) c.460A>C (p.Lys154Gln) n.825A>C c.556A>C (p.Lys186Gln) c.646A>C (p.Lys216Gln) c.*561A>C (n.*561A>C) c.*177A>C (n.*177A>C) c.311A>C (n.311A>C) c.580A>C (p.Lys194Gln) c.517A>C (p.Lys173Gln) c.586A>C (p.Lys196Gln) | |
1 | g.6474542G>A | CA415834151 | PLEKHG5 | c.348C>T (p.Gly116=) c.522C>T (p.Gly174=) c.459C>T (p.Gly153=) n.824C>T c.555C>T (p.Gly185=) c.645C>T (p.Gly215=) c.*560C>T (n.*560C>T) c.*176C>T (n.*176C>T) c.310C>T (n.310C>T) c.579C>T (p.Gly193=) c.516C>T (p.Gly172=) c.585C>T (p.Gly195=) | gnomAD v4 |
1 | g.6474542G>C | CA415834152 | PLEKHG5 | c.348C>G (p.Gly116=) c.522C>G (p.Gly174=) c.459C>G (p.Gly153=) n.824C>G c.555C>G (p.Gly185=) c.645C>G (p.Gly215=) c.*560C>G (n.*560C>G) c.*176C>G (n.*176C>G) c.310C>G (n.310C>G) c.579C>G (p.Gly193=) c.516C>G (p.Gly172=) c.585C>G (p.Gly195=) | |
1 | g.6474542G>T | CA415834153 | PLEKHG5 | c.348C>A (p.Gly116=) c.522C>A (p.Gly174=) c.459C>A (p.Gly153=) n.824C>A c.555C>A (p.Gly185=) c.645C>A (p.Gly215=) c.*560C>A (n.*560C>A) c.*176C>A (n.*176C>A) c.310C>A (n.310C>A) c.579C>A (p.Gly193=) c.516C>A (p.Gly172=) c.585C>A (p.Gly195=) | gnomAD v4 |
1 | g.6474543C>A | CA338139469 | PLEKHG5 | c.347G>T (p.Gly116Val) c.521G>T (p.Gly174Val) c.458G>T (p.Gly153Val) n.823G>T c.554G>T (p.Gly185Val) c.644G>T (p.Gly215Val) c.*559G>T (n.*559G>T) c.*175G>T (n.*175G>T) c.309G>T (n.309G>T) c.578G>T (p.Gly193Val) c.515G>T (p.Gly172Val) c.584G>T (p.Gly195Val) | ClinVar |
1 | g.6474543C>G | CA338139470 | PLEKHG5 | c.347G>C (p.Gly116Ala) c.521G>C (p.Gly174Ala) c.458G>C (p.Gly153Ala) n.823G>C c.554G>C (p.Gly185Ala) c.644G>C (p.Gly215Ala) c.*559G>C (n.*559G>C) c.*175G>C (n.*175G>C) c.309G>C (n.309G>C) c.578G>C (p.Gly193Ala) c.515G>C (p.Gly172Ala) c.584G>C (p.Gly195Ala) | |
1 | g.6474543C>T | CA338139472 | PLEKHG5 | c.347G>A (p.Gly116Asp) c.521G>A (p.Gly174Asp) c.458G>A (p.Gly153Asp) n.823G>A c.554G>A (p.Gly185Asp) c.644G>A (p.Gly215Asp) c.*559G>A (n.*559G>A) c.*175G>A (n.*175G>A) c.309G>A (n.309G>A) c.578G>A (p.Gly193Asp) c.515G>A (p.Gly172Asp) c.584G>A (p.Gly195Asp) | |
1 | g.6474544C>A | CA338139473 | PLEKHG5 | c.346G>T (p.Gly116Cys) c.520G>T (p.Gly174Cys) c.457G>T (p.Gly153Cys) n.822G>T c.553G>T (p.Gly185Cys) c.643G>T (p.Gly215Cys) c.*558G>T (n.*558G>T) c.*174G>T (n.*174G>T) c.308G>T (n.308G>T) c.577G>T (p.Gly193Cys) c.514G>T (p.Gly172Cys) c.583G>T (p.Gly195Cys) | |
1 | g.6474544C>G | CA338139475 | PLEKHG5 | c.346G>C (p.Gly116Arg) c.520G>C (p.Gly174Arg) c.457G>C (p.Gly153Arg) n.822G>C c.553G>C (p.Gly185Arg) c.643G>C (p.Gly215Arg) c.*558G>C (n.*558G>C) c.*174G>C (n.*174G>C) c.308G>C (n.308G>C) c.577G>C (p.Gly193Arg) c.514G>C (p.Gly172Arg) c.583G>C (p.Gly195Arg) | |
1 | g.6474544C>T | CA338139477 | PLEKHG5 | c.346G>A (p.Gly116Ser) c.520G>A (p.Gly174Ser) c.457G>A (p.Gly153Ser) n.822G>A c.553G>A (p.Gly185Ser) c.643G>A (p.Gly215Ser) c.*558G>A (n.*558G>A) c.*174G>A (n.*174G>A) c.308G>A (n.308G>A) c.577G>A (p.Gly193Ser) c.514G>A (p.Gly172Ser) c.583G>A (p.Gly195Ser) | |
1 | g.6474545C>A | CA415834155 | PLEKHG5 | c.345G>T (p.Leu115=) c.519G>T (p.Leu173=) c.456G>T (p.Leu152=) n.821G>T c.552G>T (p.Leu184=) c.642G>T (p.Leu214=) c.*557G>T (n.*557G>T) c.*173G>T (n.*173G>T) c.307G>T (n.307G>T) c.576G>T (p.Leu192=) c.513G>T (p.Leu171=) c.582G>T (p.Leu194=) | |
1 | g.6474545C>G | CA415834156 | PLEKHG5 | c.345G>C (p.Leu115=) c.519G>C (p.Leu173=) c.456G>C (p.Leu152=) n.821G>C c.552G>C (p.Leu184=) c.642G>C (p.Leu214=) c.*557G>C (n.*557G>C) c.*173G>C (n.*173G>C) c.307G>C (n.307G>C) c.576G>C (p.Leu192=) c.513G>C (p.Leu171=) c.582G>C (p.Leu194=) | |
1 | g.6474545C>T | CA415834154 | PLEKHG5 | c.345G>A (p.Leu115=) c.519G>A (p.Leu173=) c.456G>A (p.Leu152=) n.821G>A c.552G>A (p.Leu184=) c.642G>A (p.Leu214=) c.*557G>A (n.*557G>A) c.*173G>A (n.*173G>A) c.307G>A (n.307G>A) c.576G>A (p.Leu192=) c.513G>A (p.Leu171=) c.582G>A (p.Leu194=) | |
1 | g.6474546A>C | CA338139481 | PLEKHG5 | c.344T>G (p.Leu115Arg) c.518T>G (p.Leu173Arg) c.455T>G (p.Leu152Arg) n.820T>G c.551T>G (p.Leu184Arg) c.641T>G (p.Leu214Arg) c.*556T>G (n.*556T>G) c.*172T>G (n.*172T>G) c.306T>G (n.306T>G) c.575T>G (p.Leu192Arg) c.512T>G (p.Leu171Arg) c.581T>G (p.Leu194Arg) | |
1 | g.6474546A>G | CA338139483 | PLEKHG5 | c.344T>C (p.Leu115Pro) c.518T>C (p.Leu173Pro) c.455T>C (p.Leu152Pro) n.820T>C c.551T>C (p.Leu184Pro) c.641T>C (p.Leu214Pro) c.*556T>C (n.*556T>C) c.*172T>C (n.*172T>C) c.306T>C (n.306T>C) c.575T>C (p.Leu192Pro) c.512T>C (p.Leu171Pro) c.581T>C (p.Leu194Pro) | |
1 | g.6474546A>T | CA338139479 | PLEKHG5 | c.344T>A (p.Leu115Gln) c.518T>A (p.Leu173Gln) c.455T>A (p.Leu152Gln) n.820T>A c.551T>A (p.Leu184Gln) c.641T>A (p.Leu214Gln) c.*556T>A (n.*556T>A) c.*172T>A (n.*172T>A) c.306T>A (n.306T>A) c.575T>A (p.Leu192Gln) c.512T>A (p.Leu171Gln) c.581T>A (p.Leu194Gln) | |
1 | g.6474547G>A | CA415834157 | PLEKHG5 | c.343C>T (p.Leu115=) c.517C>T (p.Leu173=) c.454C>T (p.Leu152=) n.819C>T c.550C>T (p.Leu184=) c.640C>T (p.Leu214=) c.*555C>T (n.*555C>T) c.*171C>T (n.*171C>T) c.305C>T (n.305C>T) c.574C>T (p.Leu192=) c.511C>T (p.Leu171=) c.580C>T (p.Leu194=) | ClinVar |
1 | g.6474547G>C | CA338139485 | PLEKHG5 | c.343C>G (p.Leu115Val) c.517C>G (p.Leu173Val) c.454C>G (p.Leu152Val) n.819C>G c.550C>G (p.Leu184Val) c.640C>G (p.Leu214Val) c.*555C>G (n.*555C>G) c.*171C>G (n.*171C>G) c.305C>G (n.305C>G) c.574C>G (p.Leu192Val) c.511C>G (p.Leu171Val) c.580C>G (p.Leu194Val) | |
1 | g.6474547G>T | CA338139487 | PLEKHG5 | c.343C>A (p.Leu115Met) c.517C>A (p.Leu173Met) c.454C>A (p.Leu152Met) n.819C>A c.550C>A (p.Leu184Met) c.640C>A (p.Leu214Met) c.*555C>A (n.*555C>A) c.*171C>A (n.*171C>A) c.305C>A (n.305C>A) c.574C>A (p.Leu192Met) c.511C>A (p.Leu171Met) c.580C>A (p.Leu194Met) | |
1 | g.6474548C>A | CA415834159 | PLEKHG5 | c.342G>T (p.Ala114=) c.516G>T (p.Ala172=) c.453G>T (p.Ala151=) n.818G>T c.549G>T (p.Ala183=) c.639G>T (p.Ala213=) c.*554G>T (n.*554G>T) c.*170G>T (n.*170G>T) c.304G>T (n.304G>T) c.573G>T (p.Ala191=) c.510G>T (p.Ala170=) c.579G>T (p.Ala193=) | gnomAD v4 |
1 | g.6474548C= | CA1151507028 | PLEKHG5 | c.342G= (p.Ala114=) c.516G= (p.Ala172=) c.453G= (p.Ala151=) n.818G= c.549G= (p.Ala183=) c.639G= (p.Ala213=) c.*554G= (n.*554G=) c.*170G= (n.*170G=) c.304G= (n.304G=) c.573G= (p.Ala191=) c.510G= (p.Ala170=) c.579G= (p.Ala193=) | |
1 | g.6474548C>G | CA415834158 | PLEKHG5 | c.342G>C (p.Ala114=) c.516G>C (p.Ala172=) c.453G>C (p.Ala151=) n.818G>C c.549G>C (p.Ala183=) c.639G>C (p.Ala213=) c.*554G>C (n.*554G>C) c.*170G>C (n.*170G>C) c.304G>C (n.304G>C) c.573G>C (p.Ala191=) c.510G>C (p.Ala170=) c.579G>C (p.Ala193=) | |
1 | g.6474548C>T | CA561879 | PLEKHG5 | c.342G>A (p.Ala114=) c.516G>A (p.Ala172=) c.453G>A (p.Ala151=) n.818G>A c.549G>A (p.Ala183=) c.639G>A (p.Ala213=) c.*554G>A (n.*554G>A) c.*170G>A (n.*170G>A) c.304G>A (n.304G>A) c.573G>A (p.Ala191=) c.510G>A (p.Ala170=) c.579G>A (p.Ala193=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474549G>A | CA561880 | PLEKHG5 | c.341C>T (p.Ala114Val) c.515C>T (p.Ala172Val) c.452C>T (p.Ala151Val) n.817C>T c.548C>T (p.Ala183Val) c.638C>T (p.Ala213Val) c.*553C>T (n.*553C>T) c.*169C>T (n.*169C>T) c.303C>T (n.303C>T) c.572C>T (p.Ala191Val) c.509C>T (p.Ala170Val) c.578C>T (p.Ala193Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474549G>C | CA338139491 | PLEKHG5 | c.341C>G (p.Ala114Gly) c.515C>G (p.Ala172Gly) c.452C>G (p.Ala151Gly) n.817C>G c.548C>G (p.Ala183Gly) c.638C>G (p.Ala213Gly) c.*553C>G (n.*553C>G) c.*169C>G (n.*169C>G) c.303C>G (n.303C>G) c.572C>G (p.Ala191Gly) c.509C>G (p.Ala170Gly) c.578C>G (p.Ala193Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474549G= | CA1142051036 | PLEKHG5 | c.341C= (p.Ala114=) c.515C= (p.Ala172=) c.452C= (p.Ala151=) n.817C= c.548C= (p.Ala183=) c.638C= (p.Ala213=) c.*553C= (n.*553C=) c.*169C= (n.*169C=) c.303C= (n.303C=) c.572C= (p.Ala191=) c.509C= (p.Ala170=) c.578C= (p.Ala193=) | |
1 | g.6474549G>T | CA338139494 | PLEKHG5 | c.341C>A (p.Ala114Glu) c.515C>A (p.Ala172Glu) c.452C>A (p.Ala151Glu) n.817C>A c.548C>A (p.Ala183Glu) c.638C>A (p.Ala213Glu) c.*553C>A (n.*553C>A) c.*169C>A (n.*169C>A) c.303C>A (n.303C>A) c.572C>A (p.Ala191Glu) c.509C>A (p.Ala170Glu) c.578C>A (p.Ala193Glu) | |
1 | g.6474550C>A | CA338139496 | PLEKHG5 | c.340G>T (p.Ala114Ser) c.514G>T (p.Ala172Ser) c.451G>T (p.Ala151Ser) n.816G>T c.547G>T (p.Ala183Ser) c.637G>T (p.Ala213Ser) c.*552G>T (n.*552G>T) c.*168G>T (n.*168G>T) c.302G>T (n.302G>T) c.571G>T (p.Ala191Ser) c.508G>T (p.Ala170Ser) c.577G>T (p.Ala193Ser) | |
1 | g.6474550C>G | CA338139498 | PLEKHG5 | c.340G>C (p.Ala114Pro) c.514G>C (p.Ala172Pro) c.451G>C (p.Ala151Pro) n.816G>C c.547G>C (p.Ala183Pro) c.637G>C (p.Ala213Pro) c.*552G>C (n.*552G>C) c.*168G>C (n.*168G>C) c.302G>C (n.302G>C) c.571G>C (p.Ala191Pro) c.508G>C (p.Ala170Pro) c.577G>C (p.Ala193Pro) | |
1 | g.6474550C>T | CA338139499 | PLEKHG5 | c.340G>A (p.Ala114Thr) c.514G>A (p.Ala172Thr) c.451G>A (p.Ala151Thr) n.816G>A c.547G>A (p.Ala183Thr) c.637G>A (p.Ala213Thr) c.*552G>A (n.*552G>A) c.*168G>A (n.*168G>A) c.302G>A (n.302G>A) c.571G>A (p.Ala191Thr) c.508G>A (p.Ala170Thr) c.577G>A (p.Ala193Thr) | |
1 | g.6474551A>C | CA338139501 | PLEKHG5 | c.339T>G (p.Ile113Met) c.513T>G (p.Ile171Met) c.450T>G (p.Ile150Met) n.815T>G c.546T>G (p.Ile182Met) c.636T>G (p.Ile212Met) c.*551T>G (n.*551T>G) c.*167T>G (n.*167T>G) c.301T>G (n.301T>G) c.570T>G (p.Ile190Met) c.507T>G (p.Ile169Met) c.576T>G (p.Ile192Met) | gnomAD v4 |
1 | g.6474551A>G | CA415834161 | PLEKHG5 | c.339T>C (p.Ile113=) c.513T>C (p.Ile171=) c.450T>C (p.Ile150=) n.815T>C c.546T>C (p.Ile182=) c.636T>C (p.Ile212=) c.*551T>C (n.*551T>C) c.*167T>C (n.*167T>C) c.301T>C (n.301T>C) c.570T>C (p.Ile190=) c.507T>C (p.Ile169=) c.576T>C (p.Ile192=) | gnomAD v4 |
1 | g.6474551A>T | CA415834160 | PLEKHG5 | c.339T>A (p.Ile113=) c.513T>A (p.Ile171=) c.450T>A (p.Ile150=) n.815T>A c.546T>A (p.Ile182=) c.636T>A (p.Ile212=) c.*551T>A (n.*551T>A) c.*167T>A (n.*167T>A) c.301T>A (n.301T>A) c.570T>A (p.Ile190=) c.507T>A (p.Ile169=) c.576T>A (p.Ile192=) | |
1 | g.6474552A>C | CA338139504 | PLEKHG5 | c.338T>G (p.Ile113Ser) c.512T>G (p.Ile171Ser) c.449T>G (p.Ile150Ser) n.814T>G c.545T>G (p.Ile182Ser) c.635T>G (p.Ile212Ser) c.*550T>G (n.*550T>G) c.*166T>G (n.*166T>G) c.300T>G (n.300T>G) c.569T>G (p.Ile190Ser) c.506T>G (p.Ile169Ser) c.575T>G (p.Ile192Ser) | |
1 | g.6474552A>G | CA338139505 | PLEKHG5 | c.338T>C (p.Ile113Thr) c.512T>C (p.Ile171Thr) c.449T>C (p.Ile150Thr) n.814T>C c.545T>C (p.Ile182Thr) c.635T>C (p.Ile212Thr) c.*550T>C (n.*550T>C) c.*166T>C (n.*166T>C) c.300T>C (n.300T>C) c.569T>C (p.Ile190Thr) c.506T>C (p.Ile169Thr) c.575T>C (p.Ile192Thr) | |
1 | g.6474552A>T | CA338139507 | PLEKHG5 | c.338T>A (p.Ile113Asn) c.512T>A (p.Ile171Asn) c.449T>A (p.Ile150Asn) n.814T>A c.545T>A (p.Ile182Asn) c.635T>A (p.Ile212Asn) c.*550T>A (n.*550T>A) c.*166T>A (n.*166T>A) c.300T>A (n.300T>A) c.569T>A (p.Ile190Asn) c.506T>A (p.Ile169Asn) c.575T>A (p.Ile192Asn) | |
1 | g.6474553T>A | CA338139512 | PLEKHG5 | c.337A>T (p.Ile113Phe) c.511A>T (p.Ile171Phe) c.448A>T (p.Ile150Phe) n.813A>T c.544A>T (p.Ile182Phe) c.634A>T (p.Ile212Phe) c.*549A>T (n.*549A>T) c.*165A>T (n.*165A>T) c.299A>T (n.299A>T) c.568A>T (p.Ile190Phe) c.505A>T (p.Ile169Phe) c.574A>T (p.Ile192Phe) | COSMIC COSMIC COSMIC |
1 | g.6474553T>C | CA338139509 | PLEKHG5 | c.337A>G (p.Ile113Val) c.511A>G (p.Ile171Val) c.448A>G (p.Ile150Val) n.813A>G c.544A>G (p.Ile182Val) c.634A>G (p.Ile212Val) c.*549A>G (n.*549A>G) c.*165A>G (n.*165A>G) c.299A>G (n.299A>G) c.568A>G (p.Ile190Val) c.505A>G (p.Ile169Val) c.574A>G (p.Ile192Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474553T>G | CA338139511 | PLEKHG5 | c.337A>C (p.Ile113Leu) c.511A>C (p.Ile171Leu) c.448A>C (p.Ile150Leu) n.813A>C c.544A>C (p.Ile182Leu) c.634A>C (p.Ile212Leu) c.*549A>C (n.*549A>C) c.*165A>C (n.*165A>C) c.299A>C (n.299A>C) c.568A>C (p.Ile190Leu) c.505A>C (p.Ile169Leu) c.574A>C (p.Ile192Leu) | gnomAD v4 |
1 | g.6474553T= | CA1151507033 | PLEKHG5 | c.337A= (p.Ile113=) c.511A= (p.Ile171=) c.448A= (p.Ile150=) n.813A= c.544A= (p.Ile182=) c.634A= (p.Ile212=) c.*549A= (n.*549A=) c.*165A= (n.*165A=) c.299A= (n.299A=) c.568A= (p.Ile190=) c.505A= (p.Ile169=) c.574A= (p.Ile192=) | |
1 | g.6474554G>A | CA415834162 | PLEKHG5 | c.336C>T (p.Gly112=) c.510C>T (p.Gly170=) c.447C>T (p.Gly149=) n.812C>T c.543C>T (p.Gly181=) c.633C>T (p.Gly211=) c.*548C>T (n.*548C>T) c.*164C>T (n.*164C>T) c.298C>T (n.298C>T) c.567C>T (p.Gly189=) c.504C>T (p.Gly168=) c.573C>T (p.Gly191=) | |
1 | g.6474554G>C | CA415834163 | PLEKHG5 | c.336C>G (p.Gly112=) c.510C>G (p.Gly170=) c.447C>G (p.Gly149=) n.812C>G c.543C>G (p.Gly181=) c.633C>G (p.Gly211=) c.*548C>G (n.*548C>G) c.*164C>G (n.*164C>G) c.298C>G (n.298C>G) c.567C>G (p.Gly189=) c.504C>G (p.Gly168=) c.573C>G (p.Gly191=) | |
1 | g.6474554G>T | CA415834164 | PLEKHG5 | c.336C>A (p.Gly112=) c.510C>A (p.Gly170=) c.447C>A (p.Gly149=) n.812C>A c.543C>A (p.Gly181=) c.633C>A (p.Gly211=) c.*548C>A (n.*548C>A) c.*164C>A (n.*164C>A) c.298C>A (n.298C>A) c.567C>A (p.Gly189=) c.504C>A (p.Gly168=) c.573C>A (p.Gly191=) | |
1 | g.6474555C>A | CA338139513 | PLEKHG5 | c.335G>T (p.Gly112Val) c.509G>T (p.Gly170Val) c.446G>T (p.Gly149Val) n.811G>T c.542G>T (p.Gly181Val) c.632G>T (p.Gly211Val) c.*547G>T (n.*547G>T) c.*163G>T (n.*163G>T) c.297G>T (n.297G>T) c.566G>T (p.Gly189Val) c.503G>T (p.Gly168Val) c.572G>T (p.Gly191Val) | ClinVar dbSNP |
1 | g.6474555C>G | CA338139514 | PLEKHG5 | c.335G>C (p.Gly112Ala) c.509G>C (p.Gly170Ala) c.446G>C (p.Gly149Ala) n.811G>C c.542G>C (p.Gly181Ala) c.632G>C (p.Gly211Ala) c.*547G>C (n.*547G>C) c.*163G>C (n.*163G>C) c.297G>C (n.297G>C) c.566G>C (p.Gly189Ala) c.503G>C (p.Gly168Ala) c.572G>C (p.Gly191Ala) | |
1 | g.6474555C>T | CA338139515 | PLEKHG5 | c.335G>A (p.Gly112Asp) c.509G>A (p.Gly170Asp) c.446G>A (p.Gly149Asp) n.811G>A c.542G>A (p.Gly181Asp) c.632G>A (p.Gly211Asp) c.*547G>A (n.*547G>A) c.*163G>A (n.*163G>A) c.297G>A (n.297G>A) c.566G>A (p.Gly189Asp) c.503G>A (p.Gly168Asp) c.572G>A (p.Gly191Asp) | |
1 | g.6474556C>A | CA338139516 | PLEKHG5 | c.334G>T (p.Gly112Cys) c.508G>T (p.Gly170Cys) c.445G>T (p.Gly149Cys) n.810G>T c.541G>T (p.Gly181Cys) c.631G>T (p.Gly211Cys) c.*546G>T (n.*546G>T) c.*162G>T (n.*162G>T) c.296G>T (n.296G>T) c.565G>T (p.Gly189Cys) c.502G>T (p.Gly168Cys) c.571G>T (p.Gly191Cys) | |
1 | g.6474556C>G | CA338139517 | PLEKHG5 | c.334G>C (p.Gly112Arg) c.508G>C (p.Gly170Arg) c.445G>C (p.Gly149Arg) n.810G>C c.541G>C (p.Gly181Arg) c.631G>C (p.Gly211Arg) c.*546G>C (n.*546G>C) c.*162G>C (n.*162G>C) c.296G>C (n.296G>C) c.565G>C (p.Gly189Arg) c.502G>C (p.Gly168Arg) c.571G>C (p.Gly191Arg) | |
1 | g.6474556C>T | CA338139519 | PLEKHG5 | c.334G>A (p.Gly112Ser) c.508G>A (p.Gly170Ser) c.445G>A (p.Gly149Ser) n.810G>A c.541G>A (p.Gly181Ser) c.631G>A (p.Gly211Ser) c.*546G>A (n.*546G>A) c.*162G>A (n.*162G>A) c.296G>A (n.296G>A) c.565G>A (p.Gly189Ser) c.502G>A (p.Gly168Ser) c.571G>A (p.Gly191Ser) | |
1 | g.6474557C>A | CA338139522 | PLEKHG5 | c.333G>T (p.Lys111Asn) c.507G>T (p.Lys169Asn) c.444G>T (p.Lys148Asn) n.809G>T c.540G>T (p.Lys180Asn) c.630G>T (p.Lys210Asn) c.*545G>T (n.*545G>T) c.*161G>T (n.*161G>T) c.295G>T (n.295G>T) c.564G>T (p.Lys188Asn) c.501G>T (p.Lys167Asn) c.570G>T (p.Lys190Asn) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6474557C= | CA1151507041 | PLEKHG5 | c.333G= (p.Lys111=) c.507G= (p.Lys169=) c.444G= (p.Lys148=) n.809G= c.540G= (p.Lys180=) c.630G= (p.Lys210=) c.*545G= (n.*545G=) c.*161G= (n.*161G=) c.295G= (n.295G=) c.564G= (p.Lys188=) c.501G= (p.Lys167=) c.570G= (p.Lys190=) | |
1 | g.6474557C>G | CA338139523 | PLEKHG5 | c.333G>C (p.Lys111Asn) c.507G>C (p.Lys169Asn) c.444G>C (p.Lys148Asn) n.809G>C c.540G>C (p.Lys180Asn) c.630G>C (p.Lys210Asn) c.*545G>C (n.*545G>C) c.*161G>C (n.*161G>C) c.295G>C (n.295G>C) c.564G>C (p.Lys188Asn) c.501G>C (p.Lys167Asn) c.570G>C (p.Lys190Asn) | |
1 | g.6474557C>T | CA561881 | PLEKHG5 | c.333G>A (p.Lys111=) c.507G>A (p.Lys169=) c.444G>A (p.Lys148=) n.809G>A c.540G>A (p.Lys180=) c.630G>A (p.Lys210=) c.*545G>A (n.*545G>A) c.*161G>A (n.*161G>A) c.295G>A (n.295G>A) c.564G>A (p.Lys188=) c.501G>A (p.Lys167=) c.570G>A (p.Lys190=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474558T>A | CA338139527 | PLEKHG5 | c.332A>T (p.Lys111Met) c.506A>T (p.Lys169Met) c.443A>T (p.Lys148Met) n.808A>T c.539A>T (p.Lys180Met) c.629A>T (p.Lys210Met) c.*544A>T (n.*544A>T) c.*160A>T (n.*160A>T) c.294A>T (n.294A>T) c.563A>T (p.Lys188Met) c.500A>T (p.Lys167Met) c.569A>T (p.Lys190Met) | |
1 | g.6474558T>C | CA338139528 | PLEKHG5 | c.332A>G (p.Lys111Arg) c.506A>G (p.Lys169Arg) c.443A>G (p.Lys148Arg) n.808A>G c.539A>G (p.Lys180Arg) c.629A>G (p.Lys210Arg) c.*544A>G (n.*544A>G) c.*160A>G (n.*160A>G) c.294A>G (n.294A>G) c.563A>G (p.Lys188Arg) c.500A>G (p.Lys167Arg) c.569A>G (p.Lys190Arg) | |
1 | g.6474558T>G | CA338139530 | PLEKHG5 | c.332A>C (p.Lys111Thr) c.506A>C (p.Lys169Thr) c.443A>C (p.Lys148Thr) n.808A>C c.539A>C (p.Lys180Thr) c.629A>C (p.Lys210Thr) c.*544A>C (n.*544A>C) c.*160A>C (n.*160A>C) c.294A>C (n.294A>C) c.563A>C (p.Lys188Thr) c.500A>C (p.Lys167Thr) c.569A>C (p.Lys190Thr) | |
1 | g.6474559T>A | CA338139534 | PLEKHG5 | c.331A>T (p.Lys111Ter) c.505A>T (p.Lys169Ter) c.442A>T (p.Lys148Ter) n.807A>T c.538A>T (p.Lys180Ter) c.628A>T (p.Lys210Ter) c.*543A>T (n.*543A>T) c.*159A>T (n.*159A>T) c.293A>T (n.293A>T) c.562A>T (p.Lys188Ter) c.499A>T (p.Lys167Ter) c.568A>T (p.Lys190Ter) | |
1 | g.6474559T>C | CA338139536 | PLEKHG5 | c.331A>G (p.Lys111Glu) c.505A>G (p.Lys169Glu) c.442A>G (p.Lys148Glu) n.807A>G c.538A>G (p.Lys180Glu) c.628A>G (p.Lys210Glu) c.*543A>G (n.*543A>G) c.*159A>G (n.*159A>G) c.293A>G (n.293A>G) c.562A>G (p.Lys188Glu) c.499A>G (p.Lys167Glu) c.568A>G (p.Lys190Glu) | |
1 | g.6474559T>G | CA338139533 | PLEKHG5 | c.331A>C (p.Lys111Gln) c.505A>C (p.Lys169Gln) c.442A>C (p.Lys148Gln) n.807A>C c.538A>C (p.Lys180Gln) c.628A>C (p.Lys210Gln) c.*543A>C (n.*543A>C) c.*159A>C (n.*159A>C) c.293A>C (n.293A>C) c.562A>C (p.Lys188Gln) c.499A>C (p.Lys167Gln) c.568A>C (p.Lys190Gln) | |
1 | g.6474560C>A | CA338139538 | PLEKHG5 | c.330G>T (p.Arg110Ser) c.504G>T (p.Arg168Ser) c.441G>T (p.Arg147Ser) n.806G>T c.537G>T (p.Arg179Ser) c.627G>T (p.Arg209Ser) c.*542G>T (n.*542G>T) c.*158G>T (n.*158G>T) c.292G>T (n.292G>T) c.561G>T (p.Arg187Ser) c.498G>T (p.Arg166Ser) c.567G>T (p.Arg189Ser) | |
1 | g.6474560C>G | CA338139539 | PLEKHG5 | c.330G>C (p.Arg110Ser) c.504G>C (p.Arg168Ser) c.441G>C (p.Arg147Ser) n.806G>C c.537G>C (p.Arg179Ser) c.627G>C (p.Arg209Ser) c.*542G>C (n.*542G>C) c.*158G>C (n.*158G>C) c.292G>C (n.292G>C) c.561G>C (p.Arg187Ser) c.498G>C (p.Arg166Ser) c.567G>C (p.Arg189Ser) | |
1 | g.6474560C>T | CA415834165 | PLEKHG5 | c.330G>A (p.Arg110=) c.504G>A (p.Arg168=) c.441G>A (p.Arg147=) n.806G>A c.537G>A (p.Arg179=) c.627G>A (p.Arg209=) c.*542G>A (n.*542G>A) c.*158G>A (n.*158G>A) c.292G>A (n.292G>A) c.561G>A (p.Arg187=) c.498G>A (p.Arg166=) c.567G>A (p.Arg189=) | |
1 | g.6474561C>A | CA338139542 | PLEKHG5 | c.329G>T (p.Arg110Met) c.503G>T (p.Arg168Met) c.440G>T (p.Arg147Met) n.805G>T c.536G>T (p.Arg179Met) c.626G>T (p.Arg209Met) c.*541G>T (n.*541G>T) c.*157G>T (n.*157G>T) c.291G>T (n.291G>T) c.560G>T (p.Arg187Met) c.497G>T (p.Arg166Met) c.566G>T (p.Arg189Met) | |
1 | g.6474561C>G | CA338139543 | PLEKHG5 | c.329G>C (p.Arg110Thr) c.503G>C (p.Arg168Thr) c.440G>C (p.Arg147Thr) n.805G>C c.536G>C (p.Arg179Thr) c.626G>C (p.Arg209Thr) c.*541G>C (n.*541G>C) c.*157G>C (n.*157G>C) c.291G>C (n.291G>C) c.560G>C (p.Arg187Thr) c.497G>C (p.Arg166Thr) c.566G>C (p.Arg189Thr) | |
1 | g.6474561C>T | CA338139545 | PLEKHG5 | c.329G>A (p.Arg110Lys) c.503G>A (p.Arg168Lys) c.440G>A (p.Arg147Lys) n.805G>A c.536G>A (p.Arg179Lys) c.626G>A (p.Arg209Lys) c.*541G>A (n.*541G>A) c.*157G>A (n.*157G>A) c.291G>A (n.291G>A) c.560G>A (p.Arg187Lys) c.497G>A (p.Arg166Lys) c.566G>A (p.Arg189Lys) | |
1 | g.6474562T>A | CA338139547 | PLEKHG5 | c.328A>T (p.Arg110Trp) c.502A>T (p.Arg168Trp) c.439A>T (p.Arg147Trp) n.804A>T c.535A>T (p.Arg179Trp) c.625A>T (p.Arg209Trp) c.*540A>T (n.*540A>T) c.*156A>T (n.*156A>T) c.290A>T (n.290A>T) c.559A>T (p.Arg187Trp) c.496A>T (p.Arg166Trp) c.565A>T (p.Arg189Trp) | |
1 | g.6474562T>C | CA338139548 | PLEKHG5 | c.328A>G (p.Arg110Gly) c.502A>G (p.Arg168Gly) c.439A>G (p.Arg147Gly) n.804A>G c.535A>G (p.Arg179Gly) c.625A>G (p.Arg209Gly) c.*540A>G (n.*540A>G) c.*156A>G (n.*156A>G) c.290A>G (n.290A>G) c.559A>G (p.Arg187Gly) c.496A>G (p.Arg166Gly) c.565A>G (p.Arg189Gly) | gnomAD v4 |
1 | g.6474562T>G | CA415834166 | PLEKHG5 | c.328A>C (p.Arg110=) c.502A>C (p.Arg168=) c.439A>C (p.Arg147=) n.804A>C c.535A>C (p.Arg179=) c.625A>C (p.Arg209=) c.*540A>C (n.*540A>C) c.*156A>C (n.*156A>C) c.290A>C (n.290A>C) c.559A>C (p.Arg187=) c.496A>C (p.Arg166=) c.565A>C (p.Arg189=) | |
1 | g.6474563T>A | CA338139550 | PLEKHG5 | c.327A>T (p.Glu109Asp) c.501A>T (p.Glu167Asp) c.438A>T (p.Glu146Asp) n.803A>T c.534A>T (p.Glu178Asp) c.624A>T (p.Glu208Asp) c.*539A>T (n.*539A>T) c.*155A>T (n.*155A>T) c.289A>T (n.289A>T) c.558A>T (p.Glu186Asp) c.495A>T (p.Glu165Asp) c.564A>T (p.Glu188Asp) | |
1 | g.6474563T>C | CA415834168 | PLEKHG5 | c.327A>G (p.Glu109=) c.501A>G (p.Glu167=) c.438A>G (p.Glu146=) n.803A>G c.534A>G (p.Glu178=) c.624A>G (p.Glu208=) c.*539A>G (n.*539A>G) c.*155A>G (n.*155A>G) c.289A>G (n.289A>G) c.558A>G (p.Glu186=) c.495A>G (p.Glu165=) c.564A>G (p.Glu188=) | |
1 | g.6474563T>G | CA338139551 | PLEKHG5 | c.327A>C (p.Glu109Asp) c.501A>C (p.Glu167Asp) c.438A>C (p.Glu146Asp) n.803A>C c.534A>C (p.Glu178Asp) c.624A>C (p.Glu208Asp) c.*539A>C (n.*539A>C) c.*155A>C (n.*155A>C) c.289A>C (n.289A>C) c.558A>C (p.Glu186Asp) c.495A>C (p.Glu165Asp) c.564A>C (p.Glu188Asp) | |
1 | g.6474564T>A | CA338139553 | PLEKHG5 | c.326A>T (p.Glu109Val) c.500A>T (p.Glu167Val) c.437A>T (p.Glu146Val) n.802A>T c.533A>T (p.Glu178Val) c.623A>T (p.Glu208Val) c.*538A>T (n.*538A>T) c.*154A>T (n.*154A>T) c.288A>T (n.288A>T) c.557A>T (p.Glu186Val) c.494A>T (p.Glu165Val) c.563A>T (p.Glu188Val) | |
1 | g.6474564T>C | CA338139554 | PLEKHG5 | c.326A>G (p.Glu109Gly) c.500A>G (p.Glu167Gly) c.437A>G (p.Glu146Gly) n.802A>G c.533A>G (p.Glu178Gly) c.623A>G (p.Glu208Gly) c.*538A>G (n.*538A>G) c.*154A>G (n.*154A>G) c.288A>G (n.288A>G) c.557A>G (p.Glu186Gly) c.494A>G (p.Glu165Gly) c.563A>G (p.Glu188Gly) | |
1 | g.6474564T>G | CA338139556 | PLEKHG5 | c.326A>C (p.Glu109Ala) c.500A>C (p.Glu167Ala) c.437A>C (p.Glu146Ala) n.802A>C c.533A>C (p.Glu178Ala) c.623A>C (p.Glu208Ala) c.*538A>C (n.*538A>C) c.*154A>C (n.*154A>C) c.288A>C (n.288A>C) c.557A>C (p.Glu186Ala) c.494A>C (p.Glu165Ala) c.563A>C (p.Glu188Ala) | |
1 | g.6474565C>A | CA338139557 | PLEKHG5 | c.325G>T (p.Glu109Ter) c.499G>T (p.Glu167Ter) c.436G>T (p.Glu146Ter) n.801G>T c.532G>T (p.Glu178Ter) c.622G>T (p.Glu208Ter) c.*537G>T (n.*537G>T) c.*153G>T (n.*153G>T) c.287G>T (n.287G>T) c.556G>T (p.Glu186Ter) c.493G>T (p.Glu165Ter) c.562G>T (p.Glu188Ter) | |
1 | g.6474565C>G | CA338139559 | PLEKHG5 | c.325G>C (p.Glu109Gln) c.499G>C (p.Glu167Gln) c.436G>C (p.Glu146Gln) n.801G>C c.532G>C (p.Glu178Gln) c.622G>C (p.Glu208Gln) c.*537G>C (n.*537G>C) c.*153G>C (n.*153G>C) c.287G>C (n.287G>C) c.556G>C (p.Glu186Gln) c.493G>C (p.Glu165Gln) c.562G>C (p.Glu188Gln) | |
1 | g.6474565C>T | CA338139560 | PLEKHG5 | c.325G>A (p.Glu109Lys) c.499G>A (p.Glu167Lys) c.436G>A (p.Glu146Lys) n.801G>A c.532G>A (p.Glu178Lys) c.622G>A (p.Glu208Lys) c.*537G>A (n.*537G>A) c.*153G>A (n.*153G>A) c.287G>A (n.287G>A) c.556G>A (p.Glu186Lys) c.493G>A (p.Glu165Lys) c.562G>A (p.Glu188Lys) |