Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.6474480C>ACA338139129PLEKHG5c.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)
1g.6474480C>GCA338139132PLEKHG5c.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)
1g.6474480C>TCA338139130PLEKHG5c.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)
1g.6474481T>ACA338139133PLEKHG5c.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)
1g.6474481T>CCA338139135PLEKHG5c.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)
1g.6474481T>GCA415834110PLEKHG5c.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=)
1g.6474482G>ACA415834111PLEKHG5c.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=)
1g.6474482G>CCA338139138PLEKHG5c.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)
1g.6474482G>TCA338139139PLEKHG5c.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)
1g.6474483T>ACA338139142PLEKHG5c.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)
1g.6474483T>CCA17243754PLEKHG5c.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
1g.6474483T>GCA338139143PLEKHG5c.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)
1g.6474483T=CA1151506913PLEKHG5c.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=)
1g.6474484A>CCA338139146PLEKHG5c.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)
1g.6474484A>GCA338139149PLEKHG5c.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)
1g.6474484A>TCA338139150PLEKHG5c.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)
1g.6474485G>ACA415834112PLEKHG5c.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=)
1g.6474485G>CCA415834113PLEKHG5c.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=)
1g.6474485G>TCA415834114PLEKHG5c.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=)
1g.6474486G>ACA338139154PLEKHG5c.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
1g.6474486G>CCA338139155PLEKHG5c.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)
1g.6474486G>TCA338139157PLEKHG5c.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)
1g.6474487C>ACA338139159PLEKHG5c.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)
1g.6474487C>GCA338139161PLEKHG5c.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)
1g.6474487C>TCA338139162PLEKHG5c.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)
1g.6474488C>ACA338139165PLEKHG5c.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)
1g.6474488C>GCA338139167PLEKHG5c.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)
1g.6474488C>TCA415834115PLEKHG5c.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
1g.6474489T>ACA338139176PLEKHG5c.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)
1g.6474489T>CCA338139171PLEKHG5c.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)
1g.6474489T>GCA338139169PLEKHG5c.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)
1g.6474490C>ACA338139178PLEKHG5c.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)
1g.6474490C=CA1151506919PLEKHG5c.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=)
1g.6474490C>GCA338139179PLEKHG5c.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)
1g.6474490C>TCA561871PLEKHG5c.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
1g.6474491G>ACA561872PLEKHG5c.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
1g.6474491G>CCA338139180PLEKHG5c.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)
1g.6474491G=CA1143692785PLEKHG5c.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=)
1g.6474491G>TCA338139181PLEKHG5c.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
1g.6474492A>CCA338139184PLEKHG5c.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)
1g.6474492A>GCA338139186PLEKHG5c.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)
1g.6474492A>TCA338139187PLEKHG5c.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)
1g.6474493A>CCA338139190PLEKHG5c.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)
1g.6474493A>GCA338139192PLEKHG5c.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)
1g.6474493A>TCA338139193PLEKHG5c.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)
1g.6474494G>ACA415834116PLEKHG5c.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
1g.6474494G>CCA415834117PLEKHG5c.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
1g.6474494G>TCA415834118PLEKHG5c.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=)
1g.6474495G>ACA561873PLEKHG5c.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
1g.6474495G>CCA338139195PLEKHG5c.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
1g.6474495G=CA1151506936PLEKHG5c.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=)
1g.6474495G>TCA338139194PLEKHG5c.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)
1g.6474496T>ACA338139198PLEKHG5c.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)
1g.6474496T>CCA338139199PLEKHG5c.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
1g.6474496T>GCA338139201PLEKHG5c.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)
1g.6474497G>ACA561874PLEKHG5c.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
1g.6474497G>CCA415834119PLEKHG5c.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=)
1g.6474497G=CA1151506944PLEKHG5c.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=)
1g.6474497G>TCA415834120PLEKHG5c.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=)
1g.6474498A=CA1151506950PLEKHG5c.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=)
1g.6474498A>CCA338139208PLEKHG5c.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
1g.6474498A>GCA561875PLEKHG5c.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
1g.6474498A>TCA338139204PLEKHG5c.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)
1g.6474499G>ACA338139211PLEKHG5c.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)
1g.6474499G>CCA338139213PLEKHG5c.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)
1g.6474499G>TCA338139216PLEKHG5c.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)
1g.6474500G>ACA415834121PLEKHG5c.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=)
1g.6474500G>CCA415834122PLEKHG5c.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=)
1g.6474500G>TCA415834123PLEKHG5c.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=)
1g.6474501G>ACA338139219PLEKHG5c.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)
1g.6474501G>CCA338139222PLEKHG5c.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
1g.6474501G>TCA338139224PLEKHG5c.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
1g.6474502A=CA1151506963PLEKHG5c.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=)
1g.6474502A>CCA338139232PLEKHG5c.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)
1g.6474502A>GCA338139226PLEKHG5c.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
1g.6474502A>TCA338139228PLEKHG5c.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)
1g.6474503C>ACA415834124PLEKHG5c.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=)
1g.6474503C>GCA415834125PLEKHG5c.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
1g.6474503C>TCA415834126PLEKHG5c.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
1g.6474504delCA2573132145PLEKHG5c.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
1g.6474504A>CCA338139234PLEKHG5c.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)
1g.6474504A>GCA338139237PLEKHG5c.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)
1g.6474504A>TCA338139235PLEKHG5c.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)
1g.6474505G>ACA415834127PLEKHG5c.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
1g.6474505G>CCA338139239PLEKHG5c.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)
1g.6474505G>TCA338139242PLEKHG5c.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)
1g.6474506G>ACA415834128PLEKHG5c.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
1g.6474506G>CCA415834129PLEKHG5c.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
1g.6474506G=CA1151506967PLEKHG5c.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=)
1g.6474506G>TCA415834130PLEKHG5c.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=)
1g.6474507G>ACA338139245PLEKHG5c.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)
1g.6474507G>CCA338139247PLEKHG5c.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)
1g.6474507G>TCA338139249PLEKHG5c.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)
1g.6474508G>ACA338139254PLEKHG5c.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)
1g.6474508G>CCA338139255PLEKHG5c.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)
1g.6474508G>TCA338139261PLEKHG5c.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)
1g.6474509T>ACA415834131PLEKHG5c.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=)
1g.6474509T>CCA415834132PLEKHG5c.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
1g.6474509T>GCA415834133PLEKHG5c.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=)
1g.6474509T=CA1151506972PLEKHG5c.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=)
1g.6474510G>ACA338139263PLEKHG5c.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)
1g.6474510G>CCA338139265PLEKHG5c.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)
1g.6474510G>TCA338139267PLEKHG5c.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)
1g.6474511T>ACA338139269PLEKHG5c.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)
1g.6474511T>CCA338139272PLEKHG5c.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
1g.6474511T>GCA338139275PLEKHG5c.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)
1g.6474512G>ACA415834134PLEKHG5c.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=)
1g.6474512G>CCA338139281PLEKHG5c.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)
1g.6474512G>TCA338139277PLEKHG5c.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)
1g.6474513_6474526delCA2580062705PLEKHG5c.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
1g.6474513T>ACA338139284PLEKHG5c.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)
1g.6474513T>CCA338139286PLEKHG5c.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)
1g.6474513T>GCA338139289PLEKHG5c.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)
1g.6474514T>ACA338139292PLEKHG5c.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)
1g.6474514T>CCA338139295PLEKHG5c.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)
1g.6474514T>GCA338139297PLEKHG5c.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)
1g.6474515G>ACA415834135PLEKHG5c.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
1g.6474515G>CCA415834136PLEKHG5c.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=)
1g.6474515G=CA1151506993PLEKHG5c.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=)
1g.6474515G>TCA415834137PLEKHG5c.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=)
1g.6474516G>ACA338139302PLEKHG5c.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
1g.6474516G>CCA338139307PLEKHG5c.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)
1g.6474516G>TCA338139309PLEKHG5c.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)
1g.6474517A>CCA338139311PLEKHG5c.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)
1g.6474517A>GCA338139313PLEKHG5c.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)
1g.6474517A>TCA338139316PLEKHG5c.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
1g.6474518C>ACA338139322PLEKHG5c.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
1g.6474518C>GCA338139320PLEKHG5c.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)
1g.6474518C>TCA415834138PLEKHG5c.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
1g.6474519T>ACA338139325PLEKHG5c.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)
1g.6474519T>CCA338139326PLEKHG5c.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)
1g.6474519T>GCA338139331PLEKHG5c.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)
1g.6474520G>ACA338139333PLEKHG5c.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
1g.6474520G>CCA338139335PLEKHG5c.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
1g.6474520G=CA1151507002PLEKHG5c.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=)
1g.6474520G>TCA338139338PLEKHG5c.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)
1g.6474521G>ACA415834139PLEKHG5c.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
1g.6474521G>CCA338139347PLEKHG5c.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)
1g.6474521G>TCA338139341PLEKHG5c.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
1g.6474522T>ACA338139349PLEKHG5c.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)
1g.6474522T>CCA338139351PLEKHG5c.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)
1g.6474522T>GCA338139352PLEKHG5c.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)
1g.6474523C>ACA338139357PLEKHG5c.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)
1g.6474523C=CA1151507007PLEKHG5c.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=)
1g.6474523C>GCA338139359PLEKHG5c.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
1g.6474523C>TCA561876PLEKHG5c.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
1g.6474524C>ACA415834141PLEKHG5c.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=)
1g.6474524C>GCA415834140PLEKHG5c.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=)
1g.6474524C>TCA415834142PLEKHG5c.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
1g.6474525A>CCA338139366PLEKHG5c.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)
1g.6474525A>GCA338139371PLEKHG5c.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)
1g.6474525A>TCA338139368PLEKHG5c.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)
1g.6474526G>ACA415834143PLEKHG5c.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=)
1g.6474526G>CCA338139374PLEKHG5c.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)
1g.6474526G>TCA338139376PLEKHG5c.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)
1g.6474527G>ACA17243784PLEKHG5c.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
1g.6474527G>CCA338139381PLEKHG5c.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)
1g.6474527G=CA1151507015PLEKHG5c.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=)
1g.6474527G>TCA338139382PLEKHG5c.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
1g.6474528T>ACA338139386PLEKHG5c.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)
1g.6474528T>CCA338139389PLEKHG5c.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)
1g.6474528T>GCA338139391PLEKHG5c.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)
1g.6474529A>CCA338139396PLEKHG5c.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)
1g.6474529A>GCA338139398PLEKHG5c.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
1g.6474529A>TCA338139400PLEKHG5c.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)
1g.6474530G>ACA415834144PLEKHG5c.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
1g.6474530G>CCA338139403PLEKHG5c.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)
1g.6474530G>TCA415834145PLEKHG5c.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=)
1g.6474531A>CCA338139412PLEKHG5c.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)
1g.6474531A>GCA338139408PLEKHG5c.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
1g.6474531A>TCA338139405PLEKHG5c.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)
1g.6474532T>ACA338139419PLEKHG5c.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)
1g.6474532T>CCA338139414PLEKHG5c.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)
1g.6474532T>GCA338139416PLEKHG5c.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)
1g.6474533G>ACA415834146PLEKHG5c.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=)
1g.6474533G>CCA338139421PLEKHG5c.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)
1g.6474533G>TCA338139426PLEKHG5c.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)
1g.6474534T>ACA338139429PLEKHG5c.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)
1g.6474534T>CCA338139430PLEKHG5c.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)
1g.6474534T>GCA338139432PLEKHG5c.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)
1g.6474535C>ACA338139435PLEKHG5c.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
1g.6474535C=CA1151507021PLEKHG5c.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=)
1g.6474535C>GCA338139438PLEKHG5c.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)
1g.6474535C>TCA561877PLEKHG5c.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
1g.6474536C>ACA415834147PLEKHG5c.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=)
1g.6474536C>GCA415834148PLEKHG5c.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=)
1g.6474536C>TCA415834149PLEKHG5c.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=)
1g.6474537A>CCA338139442PLEKHG5c.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)
1g.6474537A>GCA338139445PLEKHG5c.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)
1g.6474537A>TCA338139447PLEKHG5c.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)
1g.6474538C>ACA338139453PLEKHG5c.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)
1g.6474538C>GCA338139451PLEKHG5c.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)
1g.6474538C>TCA338139450PLEKHG5c.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
1g.6474539T>ACA338139456PLEKHG5c.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)
1g.6474539T>CCA415834150PLEKHG5c.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=)
1g.6474539T>GCA338139457PLEKHG5c.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)
1g.6474540T>ACA338139459PLEKHG5c.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)
1g.6474540T>CCA561878PLEKHG5c.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
1g.6474540T>GCA338139461PLEKHG5c.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)
1g.6474540T=CA1143464780PLEKHG5c.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=)
1g.6474541T>ACA338139464PLEKHG5c.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)
1g.6474541T>CCA338139465PLEKHG5c.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)
1g.6474541T>GCA338139467PLEKHG5c.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)
1g.6474542G>ACA415834151PLEKHG5c.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
1g.6474542G>CCA415834152PLEKHG5c.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=)
1g.6474542G>TCA415834153PLEKHG5c.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
1g.6474543C>ACA338139469PLEKHG5c.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
1g.6474543C>GCA338139470PLEKHG5c.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)
1g.6474543C>TCA338139472PLEKHG5c.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)
1g.6474544C>ACA338139473PLEKHG5c.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)
1g.6474544C>GCA338139475PLEKHG5c.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)
1g.6474544C>TCA338139477PLEKHG5c.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)
1g.6474545C>ACA415834155PLEKHG5c.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=)
1g.6474545C>GCA415834156PLEKHG5c.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=)
1g.6474545C>TCA415834154PLEKHG5c.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=)
1g.6474546A>CCA338139481PLEKHG5c.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)
1g.6474546A>GCA338139483PLEKHG5c.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)
1g.6474546A>TCA338139479PLEKHG5c.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)
1g.6474547G>ACA415834157PLEKHG5c.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
1g.6474547G>CCA338139485PLEKHG5c.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)
1g.6474547G>TCA338139487PLEKHG5c.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)
1g.6474548C>ACA415834159PLEKHG5c.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
1g.6474548C=CA1151507028PLEKHG5c.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=)
1g.6474548C>GCA415834158PLEKHG5c.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=)
1g.6474548C>TCA561879PLEKHG5c.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
1g.6474549G>ACA561880PLEKHG5c.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
1g.6474549G>CCA338139491PLEKHG5c.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
1g.6474549G=CA1142051036PLEKHG5c.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=)
1g.6474549G>TCA338139494PLEKHG5c.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)
1g.6474550C>ACA338139496PLEKHG5c.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)
1g.6474550C>GCA338139498PLEKHG5c.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)
1g.6474550C>TCA338139499PLEKHG5c.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)
1g.6474551A>CCA338139501PLEKHG5c.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
1g.6474551A>GCA415834161PLEKHG5c.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
1g.6474551A>TCA415834160PLEKHG5c.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=)
1g.6474552A>CCA338139504PLEKHG5c.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)
1g.6474552A>GCA338139505PLEKHG5c.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)
1g.6474552A>TCA338139507PLEKHG5c.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)
1g.6474553T>ACA338139512PLEKHG5c.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
1g.6474553T>CCA338139509PLEKHG5c.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
1g.6474553T>GCA338139511PLEKHG5c.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
1g.6474553T=CA1151507033PLEKHG5c.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=)
1g.6474554G>ACA415834162PLEKHG5c.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=)
1g.6474554G>CCA415834163PLEKHG5c.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=)
1g.6474554G>TCA415834164PLEKHG5c.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=)
1g.6474555C>ACA338139513PLEKHG5c.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
1g.6474555C>GCA338139514PLEKHG5c.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)
1g.6474555C>TCA338139515PLEKHG5c.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)
1g.6474556C>ACA338139516PLEKHG5c.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)
1g.6474556C>GCA338139517PLEKHG5c.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)
1g.6474556C>TCA338139519PLEKHG5c.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)
1g.6474557C>ACA338139522PLEKHG5c.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
1g.6474557C=CA1151507041PLEKHG5c.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=)
1g.6474557C>GCA338139523PLEKHG5c.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)
1g.6474557C>TCA561881PLEKHG5c.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
1g.6474558T>ACA338139527PLEKHG5c.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)
1g.6474558T>CCA338139528PLEKHG5c.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)
1g.6474558T>GCA338139530PLEKHG5c.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)
1g.6474559T>ACA338139534PLEKHG5c.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)
1g.6474559T>CCA338139536PLEKHG5c.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)
1g.6474559T>GCA338139533PLEKHG5c.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)
1g.6474560C>ACA338139538PLEKHG5c.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)
1g.6474560C>GCA338139539PLEKHG5c.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)
1g.6474560C>TCA415834165PLEKHG5c.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=)
1g.6474561C>ACA338139542PLEKHG5c.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)
1g.6474561C>GCA338139543PLEKHG5c.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)
1g.6474561C>TCA338139545PLEKHG5c.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)
1g.6474562T>ACA338139547PLEKHG5c.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)
1g.6474562T>CCA338139548PLEKHG5c.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
1g.6474562T>GCA415834166PLEKHG5c.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=)
1g.6474563T>ACA338139550PLEKHG5c.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)
1g.6474563T>CCA415834168PLEKHG5c.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=)
1g.6474563T>GCA338139551PLEKHG5c.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)
1g.6474564T>ACA338139553PLEKHG5c.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)
1g.6474564T>CCA338139554PLEKHG5c.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)
1g.6474564T>GCA338139556PLEKHG5c.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)
1g.6474565C>ACA338139557PLEKHG5c.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)
1g.6474565C>GCA338139559PLEKHG5c.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)
1g.6474565C>TCA338139560PLEKHG5c.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)
1g.6474566A>CCA338139562PLEKHG5c.324T>G (p.Phe108Leu)
c.498T>G (p.Phe166Leu)
c.435T>G (p.Phe145Leu)
n.800T>G
c.531T>G (p.Phe177Leu)
c.621T>G (p.Phe207Leu)
c.*536T>G (n.*536T>G)
c.*152T>G (n.*152T>G)
c.286T>G (n.286T>G)
c.555T>G (p.Phe185Leu)
c.492T>G (p.Phe164Leu)
c.561T>G (p.Phe187Leu)
1g.6474566A>GCA415834169PLEKHG5c.324T>C (p.Phe108=)
c.498T>C (p.Phe166=)
c.435T>C (p.Phe145=)
n.800T>C
c.531T>C (p.Phe177=)
c.621T>C (p.Phe207=)
c.*536T>C (n.*536T>C)
c.*152T>C (n.*152T>C)
c.286T>C (n.286T>C)
c.555T>C (p.Phe185=)
c.492T>C (p.Phe164=)
c.561T>C (p.Phe187=)
1g.6474566A>TCA338139563PLEKHG5c.324T>A (p.Phe108Leu)
c.498T>A (p.Phe166Leu)
c.435T>A (p.Phe145Leu)
n.800T>A
c.531T>A (p.Phe177Leu)
c.621T>A (p.Phe207Leu)
c.*536T>A (n.*536T>A)
c.*152T>A (n.*152T>A)
c.286T>A (n.286T>A)
c.555T>A (p.Phe185Leu)
c.492T>A (p.Phe164Leu)
c.561T>A (p.Phe187Leu)
1g.6474567A>CCA338139566PLEKHG5c.323T>G (p.Phe108Cys)
c.497T>G (p.Phe166Cys)
c.434T>G (p.Phe145Cys)
n.799T>G
c.530T>G (p.Phe177Cys)
c.620T>G (p.Phe207Cys)
c.*535T>G (n.*535T>G)
c.*151T>G (n.*151T>G)
c.285T>G (n.285T>G)
c.554T>G (p.Phe185Cys)
c.491T>G (p.Phe164Cys)
c.560T>G (p.Phe187Cys)
1g.6474567A>GCA338139568PLEKHG5c.323T>C (p.Phe108Ser)
c.497T>C (p.Phe166Ser)
c.434T>C (p.Phe145Ser)
n.799T>C
c.530T>C (p.Phe177Ser)
c.620T>C (p.Phe207Ser)
c.*535T>C (n.*535T>C)
c.*151T>C (n.*151T>C)
c.285T>C (n.285T>C)
c.554T>C (p.Phe185Ser)
c.491T>C (p.Phe164Ser)
c.560T>C (p.Phe187Ser)
1g.6474567A>TCA338139572PLEKHG5c.323T>A (p.Phe108Tyr)
c.497T>A (p.Phe166Tyr)
c.434T>A (p.Phe145Tyr)
n.799T>A
c.530T>A (p.Phe177Tyr)
c.620T>A (p.Phe207Tyr)
c.*535T>A (n.*535T>A)
c.*151T>A (n.*151T>A)
c.285T>A (n.285T>A)
c.554T>A (p.Phe185Tyr)
c.491T>A (p.Phe164Tyr)
c.560T>A (p.Phe187Tyr)
1g.6474568A>CCA338139575PLEKHG5c.322T>G (p.Phe108Val)
c.496T>G (p.Phe166Val)
c.433T>G (p.Phe145Val)
n.798T>G
c.529T>G (p.Phe177Val)
c.619T>G (p.Phe207Val)
c.*534T>G (n.*534T>G)
c.*150T>G (n.*150T>G)
c.284T>G (n.284T>G)
c.553T>G (p.Phe185Val)
c.490T>G (p.Phe164Val)
c.559T>G (p.Phe187Val)
1g.6474568A>GCA338139577PLEKHG5c.322T>C (p.Phe108Leu)
c.496T>C (p.Phe166Leu)
c.433T>C (p.Phe145Leu)
n.798T>C
c.529T>C (p.Phe177Leu)
c.619T>C (p.Phe207Leu)
c.*534T>C (n.*534T>C)
c.*150T>C (n.*150T>C)
c.284T>C (n.284T>C)
c.553T>C (p.Phe185Leu)
c.490T>C (p.Phe164Leu)
c.559T>C (p.Phe187Leu)
1g.6474568A>TCA338139580PLEKHG5c.322T>A (p.Phe108Ile)
c.496T>A (p.Phe166Ile)
c.433T>A (p.Phe145Ile)
n.798T>A
c.529T>A (p.Phe177Ile)
c.619T>A (p.Phe207Ile)
c.*534T>A (n.*534T>A)
c.*150T>A (n.*150T>A)
c.284T>A (n.284T>A)
c.553T>A (p.Phe185Ile)
c.490T>A (p.Phe164Ile)
c.559T>A (p.Phe187Ile)
1g.6474569T>ACA415834170PLEKHG5c.321A>T (p.Val107=)
c.495A>T (p.Val165=)
c.432A>T (p.Val144=)
n.797A>T
c.528A>T (p.Val176=)
c.618A>T (p.Val206=)
c.*533A>T (n.*533A>T)
c.*149A>T (n.*149A>T)
c.283A>T (n.283A>T)
c.552A>T (p.Val184=)
c.489A>T (p.Val163=)
c.558A>T (p.Val186=)
1g.6474569T>CCA415834171PLEKHG5c.321A>G (p.Val107=)
c.495A>G (p.Val165=)
c.432A>G (p.Val144=)
n.797A>G
c.528A>G (p.Val176=)
c.618A>G (p.Val206=)
c.*533A>G (n.*533A>G)
c.*149A>G (n.*149A>G)
c.283A>G (n.283A>G)
c.552A>G (p.Val184=)
c.489A>G (p.Val163=)
c.558A>G (p.Val186=)
 gnomAD v4
1g.6474569T>GCA415834172PLEKHG5c.321A>C (p.Val107=)
c.495A>C (p.Val165=)
c.432A>C (p.Val144=)
n.797A>C
c.528A>C (p.Val176=)
c.618A>C (p.Val206=)
c.*533A>C (n.*533A>C)
c.*149A>C (n.*149A>C)
c.283A>C (n.283A>C)
c.552A>C (p.Val184=)
c.489A>C (p.Val163=)
c.558A>C (p.Val186=)
1g.6474570A>CCA338139583PLEKHG5c.320T>G (p.Val107Gly)
c.494T>G (p.Val165Gly)
c.431T>G (p.Val144Gly)
n.796T>G
c.527T>G (p.Val176Gly)
c.617T>G (p.Val206Gly)
c.*532T>G (n.*532T>G)
c.*148T>G (n.*148T>G)
c.282T>G (n.282T>G)
c.551T>G (p.Val184Gly)
c.488T>G (p.Val163Gly)
c.557T>G (p.Val186Gly)
1g.6474570A>GCA338139586PLEKHG5c.320T>C (p.Val107Ala)
c.494T>C (p.Val165Ala)
c.431T>C (p.Val144Ala)
n.796T>C
c.527T>C (p.Val176Ala)
c.617T>C (p.Val206Ala)
c.*532T>C (n.*532T>C)
c.*148T>C (n.*148T>C)
c.282T>C (n.282T>C)
c.551T>C (p.Val184Ala)
c.488T>C (p.Val163Ala)
c.557T>C (p.Val186Ala)
1g.6474570A>TCA338139588PLEKHG5c.320T>A (p.Val107Glu)
c.494T>A (p.Val165Glu)
c.431T>A (p.Val144Glu)
n.796T>A
c.527T>A (p.Val176Glu)
c.617T>A (p.Val206Glu)
c.*532T>A (n.*532T>A)
c.*148T>A (n.*148T>A)
c.282T>A (n.282T>A)
c.551T>A (p.Val184Glu)
c.488T>A (p.Val163Glu)
c.557T>A (p.Val186Glu)
 gnomAD v4
1g.6474571C>ACA338139590PLEKHG5c.319G>T (p.Val107Leu)
c.493G>T (p.Val165Leu)
c.430G>T (p.Val144Leu)
n.795G>T
c.526G>T (p.Val176Leu)
c.616G>T (p.Val206Leu)
c.*531G>T (n.*531G>T)
c.*147G>T (n.*147G>T)
c.281G>T (n.281G>T)
c.550G>T (p.Val184Leu)
c.487G>T (p.Val163Leu)
c.556G>T (p.Val186Leu)
1g.6474571C>GCA338139593PLEKHG5c.319G>C (p.Val107Leu)
c.493G>C (p.Val165Leu)
c.430G>C (p.Val144Leu)
n.795G>C
c.526G>C (p.Val176Leu)
c.616G>C (p.Val206Leu)
c.*531G>C (n.*531G>C)
c.*147G>C (n.*147G>C)
c.281G>C (n.281G>C)
c.550G>C (p.Val184Leu)
c.487G>C (p.Val163Leu)
c.556G>C (p.Val186Leu)
1g.6474571C>TCA338139594PLEKHG5c.319G>A (p.Val107Ile)
c.493G>A (p.Val165Ile)
c.430G>A (p.Val144Ile)
n.795G>A
c.526G>A (p.Val176Ile)
c.616G>A (p.Val206Ile)
c.*531G>A (n.*531G>A)
c.*147G>A (n.*147G>A)
c.281G>A (n.281G>A)
c.550G>A (p.Val184Ile)
c.487G>A (p.Val163Ile)
c.556G>A (p.Val186Ile)
1g.6474572A>CCA415834175PLEKHG5c.318T>G (p.Pro106=)
c.492T>G (p.Pro164=)
c.429T>G (p.Pro143=)
n.794T>G
c.525T>G (p.Pro175=)
c.615T>G (p.Pro205=)
c.*530T>G (n.*530T>G)
c.*146T>G (n.*146T>G)
c.280T>G (n.280T>G)
c.549T>G (p.Pro183=)
c.486T>G (p.Pro162=)
c.555T>G (p.Pro185=)
1g.6474572A>GCA415834173PLEKHG5c.318T>C (p.Pro106=)
c.492T>C (p.Pro164=)
c.429T>C (p.Pro143=)
n.794T>C
c.525T>C (p.Pro175=)
c.615T>C (p.Pro205=)
c.*530T>C (n.*530T>C)
c.*146T>C (n.*146T>C)
c.280T>C (n.280T>C)
c.549T>C (p.Pro183=)
c.486T>C (p.Pro162=)
c.555T>C (p.Pro185=)
 ClinVar
1g.6474572A>TCA415834174PLEKHG5c.318T>A (p.Pro106=)
c.492T>A (p.Pro164=)
c.429T>A (p.Pro143=)
n.794T>A
c.525T>A (p.Pro175=)
c.615T>A (p.Pro205=)
c.*530T>A (n.*530T>A)
c.*146T>A (n.*146T>A)
c.280T>A (n.280T>A)
c.549T>A (p.Pro183=)
c.486T>A (p.Pro162=)
c.555T>A (p.Pro185=)
1g.6474573G>ACA338139602PLEKHG5c.317C>T (p.Pro106Leu)
c.491C>T (p.Pro164Leu)
c.428C>T (p.Pro143Leu)
n.793C>T
c.524C>T (p.Pro175Leu)
c.614C>T (p.Pro205Leu)
c.*529C>T (n.*529C>T)
c.*145C>T (n.*145C>T)
c.279C>T (n.279C>T)
c.548C>T (p.Pro183Leu)
c.485C>T (p.Pro162Leu)
c.554C>T (p.Pro185Leu)
 gnomAD v4
1g.6474573G>CCA338139599PLEKHG5c.317C>G (p.Pro106Arg)
c.491C>G (p.Pro164Arg)
c.428C>G (p.Pro143Arg)
n.793C>G
c.524C>G (p.Pro175Arg)
c.614C>G (p.Pro205Arg)
c.*529C>G (n.*529C>G)
c.*145C>G (n.*145C>G)
c.279C>G (n.279C>G)
c.548C>G (p.Pro183Arg)
c.485C>G (p.Pro162Arg)
c.554C>G (p.Pro185Arg)
1g.6474573G>TCA338139596PLEKHG5c.317C>A (p.Pro106His)
c.491C>A (p.Pro164His)
c.428C>A (p.Pro143His)
n.793C>A
c.524C>A (p.Pro175His)
c.614C>A (p.Pro205His)
c.*529C>A (n.*529C>A)
c.*145C>A (n.*145C>A)
c.279C>A (n.279C>A)
c.548C>A (p.Pro183His)
c.485C>A (p.Pro162His)
c.554C>A (p.Pro185His)
1g.6474574G>ACA338139610PLEKHG5c.316C>T (p.Pro106Ser)
c.490C>T (p.Pro164Ser)
c.427C>T (p.Pro143Ser)
n.792C>T
c.523C>T (p.Pro175Ser)
c.613C>T (p.Pro205Ser)
c.*528C>T (n.*528C>T)
c.*144C>T (n.*144C>T)
c.278C>T (n.278C>T)
c.547C>T (p.Pro183Ser)
c.484C>T (p.Pro162Ser)
c.553C>T (p.Pro185Ser)
1g.6474574G>CCA338139605PLEKHG5c.316C>G (p.Pro106Ala)
c.490C>G (p.Pro164Ala)
c.427C>G (p.Pro143Ala)
n.792C>G
c.523C>G (p.Pro175Ala)
c.613C>G (p.Pro205Ala)
c.*528C>G (n.*528C>G)
c.*144C>G (n.*144C>G)
c.278C>G (n.278C>G)
c.547C>G (p.Pro183Ala)
c.484C>G (p.Pro162Ala)
c.553C>G (p.Pro185Ala)
1g.6474574G=CA1151507048PLEKHG5c.316C= (p.Pro106=)
c.490C= (p.Pro164=)
c.427C= (p.Pro143=)
n.792C=
c.523C= (p.Pro175=)
c.613C= (p.Pro205=)
c.*528C= (n.*528C=)
c.*144C= (n.*144C=)
c.278C= (n.278C=)
c.547C= (p.Pro183=)
c.484C= (p.Pro162=)
c.553C= (p.Pro185=)
1g.6474574G>TCA338139607PLEKHG5c.316C>A (p.Pro106Thr)
c.490C>A (p.Pro164Thr)
c.427C>A (p.Pro143Thr)
n.792C>A
c.523C>A (p.Pro175Thr)
c.613C>A (p.Pro205Thr)
c.*528C>A (n.*528C>A)
c.*144C>A (n.*144C>A)
c.278C>A (n.278C>A)
c.547C>A (p.Pro183Thr)
c.484C>A (p.Pro162Thr)
c.553C>A (p.Pro185Thr)
 dbSNP gnomAD v2
1g.6474575C>ACA415834176PLEKHG5c.315G>T (p.Leu105=)
c.489G>T (p.Leu163=)
c.426G>T (p.Leu142=)
n.791G>T
c.522G>T (p.Leu174=)
c.612G>T (p.Leu204=)
c.*527G>T (n.*527G>T)
c.*143G>T (n.*143G>T)
c.277G>T (n.277G>T)
c.546G>T (p.Leu182=)
c.483G>T (p.Leu161=)
c.552G>T (p.Leu184=)
1g.6474575C=CA1151507051PLEKHG5c.315G= (p.Leu105=)
c.489G= (p.Leu163=)
c.426G= (p.Leu142=)
n.791G=
c.522G= (p.Leu174=)
c.612G= (p.Leu204=)
c.*527G= (n.*527G=)
c.*143G= (n.*143G=)
c.277G= (n.277G=)
c.546G= (p.Leu182=)
c.483G= (p.Leu161=)
c.552G= (p.Leu184=)
1g.6474575C>GCA415834177PLEKHG5c.315G>C (p.Leu105=)
c.489G>C (p.Leu163=)
c.426G>C (p.Leu142=)
n.791G>C
c.522G>C (p.Leu174=)
c.612G>C (p.Leu204=)
c.*527G>C (n.*527G>C)
c.*143G>C (n.*143G>C)
c.277G>C (n.277G>C)
c.546G>C (p.Leu182=)
c.483G>C (p.Leu161=)
c.552G>C (p.Leu184=)
1g.6474575C>TCA415834178PLEKHG5c.315G>A (p.Leu105=)
c.489G>A (p.Leu163=)
c.426G>A (p.Leu142=)
n.791G>A
c.522G>A (p.Leu174=)
c.612G>A (p.Leu204=)
c.*527G>A (n.*527G>A)
c.*143G>A (n.*143G>A)
c.277G>A (n.277G>A)
c.546G>A (p.Leu182=)
c.483G>A (p.Leu161=)
c.552G>A (p.Leu184=)
 dbSNP
1g.6474576A>CCA338139614PLEKHG5c.314T>G (p.Leu105Arg)
c.488T>G (p.Leu163Arg)
c.425T>G (p.Leu142Arg)
n.790T>G
c.521T>G (p.Leu174Arg)
c.611T>G (p.Leu204Arg)
c.*526T>G (n.*526T>G)
c.*142T>G (n.*142T>G)
c.276T>G (n.276T>G)
c.545T>G (p.Leu182Arg)
c.482T>G (p.Leu161Arg)
c.551T>G (p.Leu184Arg)
1g.6474576A>GCA338139616PLEKHG5c.314T>C (p.Leu105Pro)
c.488T>C (p.Leu163Pro)
c.425T>C (p.Leu142Pro)
n.790T>C
c.521T>C (p.Leu174Pro)
c.611T>C (p.Leu204Pro)
c.*526T>C (n.*526T>C)
c.*142T>C (n.*142T>C)
c.276T>C (n.276T>C)
c.545T>C (p.Leu182Pro)
c.482T>C (p.Leu161Pro)
c.551T>C (p.Leu184Pro)
 ClinVar
1g.6474576A>TCA338139618PLEKHG5c.314T>A (p.Leu105Gln)
c.488T>A (p.Leu163Gln)
c.425T>A (p.Leu142Gln)
n.790T>A
c.521T>A (p.Leu174Gln)
c.611T>A (p.Leu204Gln)
c.*526T>A (n.*526T>A)
c.*142T>A (n.*142T>A)
c.276T>A (n.276T>A)
c.545T>A (p.Leu182Gln)
c.482T>A (p.Leu161Gln)
c.551T>A (p.Leu184Gln)
1g.6474577G>ACA415834179PLEKHG5c.313C>T (p.Leu105=)
c.487C>T (p.Leu163=)
c.424C>T (p.Leu142=)
n.789C>T
c.520C>T (p.Leu174=)
c.610C>T (p.Leu204=)
c.*525C>T (n.*525C>T)
c.*141C>T (n.*141C>T)
c.275C>T (n.275C>T)
c.313C>T
c.544C>T (p.Leu182=)
c.481C>T (p.Leu161=)
c.550C>T (p.Leu184=)
1g.6474577G>CCA338139622PLEKHG5c.313C>G (p.Leu105Val)
c.487C>G (p.Leu163Val)
c.424C>G (p.Leu142Val)
n.789C>G
c.520C>G (p.Leu174Val)
c.610C>G (p.Leu204Val)
c.*525C>G (n.*525C>G)
c.*141C>G (n.*141C>G)
c.275C>G (n.275C>G)
c.313C>G
c.544C>G (p.Leu182Val)
c.481C>G (p.Leu161Val)
c.550C>G (p.Leu184Val)
1g.6474577G>TCA338139625PLEKHG5c.313C>A (p.Leu105Met)
c.487C>A (p.Leu163Met)
c.424C>A (p.Leu142Met)
n.789C>A
c.520C>A (p.Leu174Met)
c.610C>A (p.Leu204Met)
c.*525C>A (n.*525C>A)
c.*141C>A (n.*141C>A)
c.275C>A (n.275C>A)
c.313C>A
c.544C>A (p.Leu182Met)
c.481C>A (p.Leu161Met)
c.550C>A (p.Leu184Met)
 COSMIC COSMIC COSMIC
1g.6474578C>ACA415834182PLEKHG5c.312G>T (p.Leu104=)
c.486G>T (p.Leu162=)
c.423G>T (p.Leu141=)
n.788G>T
c.519G>T (p.Leu173=)
c.609G>T (p.Leu203=)
c.*524G>T (n.*524G>T)
c.*140G>T (n.*140G>T)
c.274G>T (n.274G>T)
c.543G>T (p.Leu181=)
c.480G>T (p.Leu160=)
c.549G>T (p.Leu183=)
1g.6474578C>GCA415834180PLEKHG5c.312G>C (p.Leu104=)
c.486G>C (p.Leu162=)
c.423G>C (p.Leu141=)
n.788G>C
c.519G>C (p.Leu173=)
c.609G>C (p.Leu203=)
c.*524G>C (n.*524G>C)
c.*140G>C (n.*140G>C)
c.274G>C (n.274G>C)
c.543G>C (p.Leu181=)
c.480G>C (p.Leu160=)
c.549G>C (p.Leu183=)
1g.6474578C>TCA415834181PLEKHG5c.312G>A (p.Leu104=)
c.486G>A (p.Leu162=)
c.423G>A (p.Leu141=)
n.788G>A
c.519G>A (p.Leu173=)
c.609G>A (p.Leu203=)
c.*524G>A (n.*524G>A)
c.*140G>A (n.*140G>A)
c.274G>A (n.274G>A)
c.543G>A (p.Leu181=)
c.480G>A (p.Leu160=)
c.549G>A (p.Leu183=)
 COSMIC COSMIC COSMIC
1g.6474579A>CCA338139628PLEKHG5c.311T>G (p.Leu104Arg)
c.485T>G (p.Leu162Arg)
c.422T>G (p.Leu141Arg)
n.787T>G
c.518T>G (p.Leu173Arg)
c.608T>G (p.Leu203Arg)
c.*523T>G (n.*523T>G)
c.*139T>G (n.*139T>G)
c.273T>G (n.273T>G)
c.542T>G (p.Leu181Arg)
c.479T>G (p.Leu160Arg)
c.548T>G (p.Leu183Arg)
1g.6474579A>GCA338139630PLEKHG5c.311T>C (p.Leu104Pro)
c.485T>C (p.Leu162Pro)
c.422T>C (p.Leu141Pro)
n.787T>C
c.518T>C (p.Leu173Pro)
c.608T>C (p.Leu203Pro)
c.*523T>C (n.*523T>C)
c.*139T>C (n.*139T>C)
c.273T>C (n.273T>C)
c.542T>C (p.Leu181Pro)
c.479T>C (p.Leu160Pro)
c.548T>C (p.Leu183Pro)
1g.6474579A>TCA338139633PLEKHG5c.311T>A (p.Leu104Gln)
c.485T>A (p.Leu162Gln)
c.422T>A (p.Leu141Gln)
n.787T>A
c.518T>A (p.Leu173Gln)
c.608T>A (p.Leu203Gln)
c.*523T>A (n.*523T>A)
c.*139T>A (n.*139T>A)
c.273T>A (n.273T>A)
c.542T>A (p.Leu181Gln)
c.479T>A (p.Leu160Gln)
c.548T>A (p.Leu183Gln)
1g.6474580G>ACA415834183PLEKHG5c.310C>T (p.Leu104=)
c.484C>T (p.Leu162=)
c.421C>T (p.Leu141=)
n.786C>T
c.517C>T (p.Leu173=)
c.607C>T (p.Leu203=)
c.*522C>T (n.*522C>T)
c.*138C>T (n.*138C>T)
c.272C>T (n.272C>T)
c.541C>T (p.Leu181=)
c.478C>T (p.Leu160=)
c.547C>T (p.Leu183=)
1g.6474580G>CCA338139634PLEKHG5c.310C>G (p.Leu104Val)
c.484C>G (p.Leu162Val)
c.421C>G (p.Leu141Val)
n.786C>G
c.517C>G (p.Leu173Val)
c.607C>G (p.Leu203Val)
c.*522C>G (n.*522C>G)
c.*138C>G (n.*138C>G)
c.272C>G (n.272C>G)
c.541C>G (p.Leu181Val)
c.478C>G (p.Leu160Val)
c.547C>G (p.Leu183Val)
1g.6474580G>TCA338139635PLEKHG5c.310C>A (p.Leu104Met)
c.484C>A (p.Leu162Met)
c.421C>A (p.Leu141Met)
n.786C>A
c.517C>A (p.Leu173Met)
c.607C>A (p.Leu203Met)
c.*522C>A (n.*522C>A)
c.*138C>A (n.*138C>A)
c.272C>A (n.272C>A)
c.541C>A (p.Leu181Met)
c.478C>A (p.Leu160Met)
c.547C>A (p.Leu183Met)

Number of alleles fetched