Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.6474036_6474038delCA521018914PLEKHG5c.570_572del (p.Arg191del)
c.744_746del (p.Arg249del)
c.681_683del (p.Arg228del)
n.1046_1048del
c.777_779del (p.Arg260del)
c.867_869del (p.Arg290del)
c.*782_*784del (n.*782_*784del)
c.*398_*400del (n.*398_*400del)
c.801_803del (p.Arg268del)
c.738_740del (p.Arg247del)
c.807_809del (p.Arg270del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.6474037_6474046delCA2742323541PLEKHG5c.562_571del (p.Gln188GlyfsTer?)
c.736_745del (p.Gln246GlyfsTer?)
c.673_682del (p.Gln225GlyfsTer?)
n.1038_1047del
c.769_778del (p.Gln257GlyfsTer?)
c.859_868del (p.Gln287GlyfsTer?)
c.*774_*783del (n.*774_*783del)
c.*390_*399del (n.*390_*399del)
c.793_802del (p.Gln265GlyfsTer?)
c.730_739del (p.Gln244GlyfsTer?)
c.799_808del (p.Gln267GlyfsTer?)
1g.6474037G>ACA561808PLEKHG5c.567C>T (p.Ser189=)
c.741C>T (p.Ser247=)
c.678C>T (p.Ser226=)
n.1043C>T
c.774C>T (p.Ser258=)
c.864C>T (p.Ser288=)
c.*779C>T (n.*779C>T)
c.*395C>T (n.*395C>T)
c.798C>T (p.Ser266=)
c.735C>T (p.Ser245=)
c.804C>T (p.Ser268=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474037G>CCA338138439PLEKHG5c.567C>G (p.Ser189Arg)
c.741C>G (p.Ser247Arg)
c.678C>G (p.Ser226Arg)
n.1043C>G
c.774C>G (p.Ser258Arg)
c.864C>G (p.Ser288Arg)
c.*779C>G (n.*779C>G)
c.*395C>G (n.*395C>G)
c.798C>G (p.Ser266Arg)
c.735C>G (p.Ser245Arg)
c.804C>G (p.Ser268Arg)
1g.6474037G=CA1151505722PLEKHG5c.567C= (p.Ser189=)
c.741C= (p.Ser247=)
c.678C= (p.Ser226=)
n.1043C=
c.774C= (p.Ser258=)
c.864C= (p.Ser288=)
c.*779C= (n.*779C=)
c.*395C= (n.*395C=)
c.798C= (p.Ser266=)
c.735C= (p.Ser245=)
c.804C= (p.Ser268=)
1g.6474037G>TCA338138442PLEKHG5c.567C>A (p.Ser189Arg)
c.741C>A (p.Ser247Arg)
c.678C>A (p.Ser226Arg)
n.1043C>A
c.774C>A (p.Ser258Arg)
c.864C>A (p.Ser288Arg)
c.*779C>A (n.*779C>A)
c.*395C>A (n.*395C>A)
c.798C>A (p.Ser266Arg)
c.735C>A (p.Ser245Arg)
c.804C>A (p.Ser268Arg)
1g.6474038C>ACA338138445PLEKHG5c.566G>T (p.Ser189Ile)
c.740G>T (p.Ser247Ile)
c.677G>T (p.Ser226Ile)
n.1042G>T
c.773G>T (p.Ser258Ile)
c.863G>T (p.Ser288Ile)
c.*778G>T (n.*778G>T)
c.*394G>T (n.*394G>T)
c.797G>T (p.Ser266Ile)
c.734G>T (p.Ser245Ile)
c.803G>T (p.Ser268Ile)
1g.6474038C=CA1151505726PLEKHG5c.566G= (p.Ser189=)
c.740G= (p.Ser247=)
c.677G= (p.Ser226=)
n.1042G=
c.773G= (p.Ser258=)
c.863G= (p.Ser288=)
c.*778G= (n.*778G=)
c.*394G= (n.*394G=)
c.797G= (p.Ser266=)
c.734G= (p.Ser245=)
c.803G= (p.Ser268=)
1g.6474038C>GCA338138448PLEKHG5c.566G>C (p.Ser189Thr)
c.740G>C (p.Ser247Thr)
c.677G>C (p.Ser226Thr)
n.1042G>C
c.773G>C (p.Ser258Thr)
c.863G>C (p.Ser288Thr)
c.*778G>C (n.*778G>C)
c.*394G>C (n.*394G>C)
c.797G>C (p.Ser266Thr)
c.734G>C (p.Ser245Thr)
c.803G>C (p.Ser268Thr)
1g.6474038C>TCA338138446PLEKHG5c.566G>A (p.Ser189Asn)
c.740G>A (p.Ser247Asn)
c.677G>A (p.Ser226Asn)
n.1042G>A
c.773G>A (p.Ser258Asn)
c.863G>A (p.Ser288Asn)
c.*778G>A (n.*778G>A)
c.*394G>A (n.*394G>A)
c.797G>A (p.Ser266Asn)
c.734G>A (p.Ser245Asn)
c.803G>A (p.Ser268Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.6474039T>ACA338138454PLEKHG5c.565A>T (p.Ser189Cys)
c.739A>T (p.Ser247Cys)
c.676A>T (p.Ser226Cys)
n.1041A>T
c.772A>T (p.Ser258Cys)
c.862A>T (p.Ser288Cys)
c.*777A>T (n.*777A>T)
c.*393A>T (n.*393A>T)
c.796A>T (p.Ser266Cys)
c.733A>T (p.Ser245Cys)
c.802A>T (p.Ser268Cys)
1g.6474039T>CCA338138457PLEKHG5c.565A>G (p.Ser189Gly)
c.739A>G (p.Ser247Gly)
c.676A>G (p.Ser226Gly)
n.1041A>G
c.772A>G (p.Ser258Gly)
c.862A>G (p.Ser288Gly)
c.*777A>G (n.*777A>G)
c.*393A>G (n.*393A>G)
c.796A>G (p.Ser266Gly)
c.733A>G (p.Ser245Gly)
c.802A>G (p.Ser268Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.6474039T>GCA338138460PLEKHG5c.565A>C (p.Ser189Arg)
c.739A>C (p.Ser247Arg)
c.676A>C (p.Ser226Arg)
n.1041A>C
c.772A>C (p.Ser258Arg)
c.862A>C (p.Ser288Arg)
c.*777A>C (n.*777A>C)
c.*393A>C (n.*393A>C)
c.796A>C (p.Ser266Arg)
c.733A>C (p.Ser245Arg)
c.802A>C (p.Ser268Arg)
1g.6474039T=CA1151505732PLEKHG5c.565A= (p.Ser189=)
c.739A= (p.Ser247=)
c.676A= (p.Ser226=)
n.1041A=
c.772A= (p.Ser258=)
c.862A= (p.Ser288=)
c.*777A= (n.*777A=)
c.*393A= (n.*393A=)
c.796A= (p.Ser266=)
c.733A= (p.Ser245=)
c.802A= (p.Ser268=)
1g.6474040C>ACA338138462PLEKHG5c.564G>T (p.Gln188His)
c.738G>T (p.Gln246His)
c.675G>T (p.Gln225His)
n.1040G>T
c.771G>T (p.Gln257His)
c.861G>T (p.Gln287His)
c.*776G>T (n.*776G>T)
c.*392G>T (n.*392G>T)
c.795G>T (p.Gln265His)
c.732G>T (p.Gln244His)
c.801G>T (p.Gln267His)
1g.6474040C>GCA338138465PLEKHG5c.564G>C (p.Gln188His)
c.738G>C (p.Gln246His)
c.675G>C (p.Gln225His)
n.1040G>C
c.771G>C (p.Gln257His)
c.861G>C (p.Gln287His)
c.*776G>C (n.*776G>C)
c.*392G>C (n.*392G>C)
c.795G>C (p.Gln265His)
c.732G>C (p.Gln244His)
c.801G>C (p.Gln267His)
1g.6474040C>TCA415833907PLEKHG5c.564G>A (p.Gln188=)
c.738G>A (p.Gln246=)
c.675G>A (p.Gln225=)
n.1040G>A
c.771G>A (p.Gln257=)
c.861G>A (p.Gln287=)
c.*776G>A (n.*776G>A)
c.*392G>A (n.*392G>A)
c.795G>A (p.Gln265=)
c.732G>A (p.Gln244=)
c.801G>A (p.Gln267=)
1g.6474041T>ACA338138467PLEKHG5c.563A>T (p.Gln188Leu)
c.737A>T (p.Gln246Leu)
c.674A>T (p.Gln225Leu)
n.1039A>T
c.770A>T (p.Gln257Leu)
c.860A>T (p.Gln287Leu)
c.*775A>T (n.*775A>T)
c.*391A>T (n.*391A>T)
c.794A>T (p.Gln265Leu)
c.731A>T (p.Gln244Leu)
c.800A>T (p.Gln267Leu)
1g.6474041T>CCA338138470PLEKHG5c.563A>G (p.Gln188Arg)
c.737A>G (p.Gln246Arg)
c.674A>G (p.Gln225Arg)
n.1039A>G
c.770A>G (p.Gln257Arg)
c.860A>G (p.Gln287Arg)
c.*775A>G (n.*775A>G)
c.*391A>G (n.*391A>G)
c.794A>G (p.Gln265Arg)
c.731A>G (p.Gln244Arg)
c.800A>G (p.Gln267Arg)
1g.6474041T>GCA338138472PLEKHG5c.563A>C (p.Gln188Pro)
c.737A>C (p.Gln246Pro)
c.674A>C (p.Gln225Pro)
n.1039A>C
c.770A>C (p.Gln257Pro)
c.860A>C (p.Gln287Pro)
c.*775A>C (n.*775A>C)
c.*391A>C (n.*391A>C)
c.794A>C (p.Gln265Pro)
c.731A>C (p.Gln244Pro)
c.800A>C (p.Gln267Pro)
1g.6474042G>ACA338138476PLEKHG5c.562C>T (p.Gln188Ter)
c.736C>T (p.Gln246Ter)
c.673C>T (p.Gln225Ter)
n.1038C>T
c.769C>T (p.Gln257Ter)
c.859C>T (p.Gln287Ter)
c.*774C>T (n.*774C>T)
c.*390C>T (n.*390C>T)
c.793C>T (p.Gln265Ter)
c.730C>T (p.Gln244Ter)
c.799C>T (p.Gln267Ter)
1g.6474042G>CCA338138478PLEKHG5c.562C>G (p.Gln188Glu)
c.736C>G (p.Gln246Glu)
c.673C>G (p.Gln225Glu)
n.1038C>G
c.769C>G (p.Gln257Glu)
c.859C>G (p.Gln287Glu)
c.*774C>G (n.*774C>G)
c.*390C>G (n.*390C>G)
c.793C>G (p.Gln265Glu)
c.730C>G (p.Gln244Glu)
c.799C>G (p.Gln267Glu)
1g.6474042G=CA1151505737PLEKHG5c.562C= (p.Gln188=)
c.736C= (p.Gln246=)
c.673C= (p.Gln225=)
n.1038C=
c.769C= (p.Gln257=)
c.859C= (p.Gln287=)
c.*774C= (n.*774C=)
c.*390C= (n.*390C=)
c.793C= (p.Gln265=)
c.730C= (p.Gln244=)
c.799C= (p.Gln267=)
1g.6474042G>TCA338138481PLEKHG5c.562C>A (p.Gln188Lys)
c.736C>A (p.Gln246Lys)
c.673C>A (p.Gln225Lys)
n.1038C>A
c.769C>A (p.Gln257Lys)
c.859C>A (p.Gln287Lys)
c.*774C>A (n.*774C>A)
c.*390C>A (n.*390C>A)
c.793C>A (p.Gln265Lys)
c.730C>A (p.Gln244Lys)
c.799C>A (p.Gln267Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.6474044dupCA2642977439PLEKHG5c.562dup (p.Gln188ProfsTer?)
c.736dup (p.Gln246ProfsTer?)
c.673dup (p.Gln225ProfsTer?)
n.1038dup
c.769dup (p.Gln257ProfsTer?)
c.859dup (p.Gln287ProfsTer?)
c.*774dup (n.*774dup)
c.*390dup (n.*390dup)
c.793dup (p.Gln265ProfsTer?)
c.730dup (p.Gln244ProfsTer?)
c.799dup (p.Gln267ProfsTer?)
 gnomAD v4
1g.6474043G>ACA415833911PLEKHG5c.561C>T (p.Ala187=)
c.735C>T (p.Ala245=)
c.672C>T (p.Ala224=)
n.1037C>T
c.768C>T (p.Ala256=)
c.858C>T (p.Ala286=)
c.*773C>T (n.*773C>T)
c.*389C>T (n.*389C>T)
c.792C>T (p.Ala264=)
c.729C>T (p.Ala243=)
c.798C>T (p.Ala266=)
1g.6474043G>CCA415833909PLEKHG5c.561C>G (p.Ala187=)
c.735C>G (p.Ala245=)
c.672C>G (p.Ala224=)
n.1037C>G
c.768C>G (p.Ala256=)
c.858C>G (p.Ala286=)
c.*773C>G (n.*773C>G)
c.*389C>G (n.*389C>G)
c.792C>G (p.Ala264=)
c.729C>G (p.Ala243=)
c.798C>G (p.Ala266=)
1g.6474043G>TCA415833910PLEKHG5c.561C>A (p.Ala187=)
c.735C>A (p.Ala245=)
c.672C>A (p.Ala224=)
n.1037C>A
c.768C>A (p.Ala256=)
c.858C>A (p.Ala286=)
c.*773C>A (n.*773C>A)
c.*389C>A (n.*389C>A)
c.792C>A (p.Ala264=)
c.729C>A (p.Ala243=)
c.798C>A (p.Ala266=)
 gnomAD v4
1g.6474044G>ACA338138487PLEKHG5c.560C>T (p.Ala187Val)
c.734C>T (p.Ala245Val)
c.671C>T (p.Ala224Val)
n.1036C>T
c.767C>T (p.Ala256Val)
c.857C>T (p.Ala286Val)
c.*772C>T (n.*772C>T)
c.*388C>T (n.*388C>T)
c.791C>T (p.Ala264Val)
c.728C>T (p.Ala243Val)
c.797C>T (p.Ala266Val)
 ClinVar
1g.6474044G>CCA338138490PLEKHG5c.560C>G (p.Ala187Gly)
c.734C>G (p.Ala245Gly)
c.671C>G (p.Ala224Gly)
n.1036C>G
c.767C>G (p.Ala256Gly)
c.857C>G (p.Ala286Gly)
c.*772C>G (n.*772C>G)
c.*388C>G (n.*388C>G)
c.791C>G (p.Ala264Gly)
c.728C>G (p.Ala243Gly)
c.797C>G (p.Ala266Gly)
 gnomAD v4
1g.6474044G>TCA338138484PLEKHG5c.560C>A (p.Ala187Asp)
c.734C>A (p.Ala245Asp)
c.671C>A (p.Ala224Asp)
n.1036C>A
c.767C>A (p.Ala256Asp)
c.857C>A (p.Ala286Asp)
c.*772C>A (n.*772C>A)
c.*388C>A (n.*388C>A)
c.791C>A (p.Ala264Asp)
c.728C>A (p.Ala243Asp)
c.797C>A (p.Ala266Asp)
1g.6474045C>ACA17243075PLEKHG5c.559G>T (p.Ala187Ser)
c.733G>T (p.Ala245Ser)
c.670G>T (p.Ala224Ser)
n.1035G>T
c.766G>T (p.Ala256Ser)
c.856G>T (p.Ala286Ser)
c.*771G>T (n.*771G>T)
c.*387G>T (n.*387G>T)
c.790G>T (p.Ala264Ser)
c.727G>T (p.Ala243Ser)
c.796G>T (p.Ala266Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.6474045C=CA1143355996PLEKHG5c.559G= (p.Ala187=)
c.733G= (p.Ala245=)
c.670G= (p.Ala224=)
n.1035G=
c.766G= (p.Ala256=)
c.856G= (p.Ala286=)
c.*771G= (n.*771G=)
c.*387G= (n.*387G=)
c.790G= (p.Ala264=)
c.727G= (p.Ala243=)
c.796G= (p.Ala266=)
1g.6474045C>GCA561810PLEKHG5c.559G>C (p.Ala187Pro)
c.733G>C (p.Ala245Pro)
c.670G>C (p.Ala224Pro)
n.1035G>C
c.766G>C (p.Ala256Pro)
c.856G>C (p.Ala286Pro)
c.*771G>C (n.*771G>C)
c.*387G>C (n.*387G>C)
c.790G>C (p.Ala264Pro)
c.727G>C (p.Ala243Pro)
c.796G>C (p.Ala266Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474045C>TCA561809PLEKHG5c.559G>A (p.Ala187Thr)
c.733G>A (p.Ala245Thr)
c.670G>A (p.Ala224Thr)
n.1035G>A
c.766G>A (p.Ala256Thr)
c.856G>A (p.Ala286Thr)
c.*771G>A (n.*771G>A)
c.*387G>A (n.*387G>A)
c.790G>A (p.Ala264Thr)
c.727G>A (p.Ala243Thr)
c.796G>A (p.Ala266Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474046G>ACA561811PLEKHG5c.558C>T (p.Asp186=)
c.732C>T (p.Asp244=)
c.669C>T (p.Asp223=)
n.1034C>T
c.765C>T (p.Asp255=)
c.855C>T (p.Asp285=)
c.*770C>T (n.*770C>T)
c.*386C>T (n.*386C>T)
c.789C>T (p.Asp263=)
c.726C>T (p.Asp242=)
c.795C>T (p.Asp265=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474046G>CCA338138493PLEKHG5c.558C>G (p.Asp186Glu)
c.732C>G (p.Asp244Glu)
c.669C>G (p.Asp223Glu)
n.1034C>G
c.765C>G (p.Asp255Glu)
c.855C>G (p.Asp285Glu)
c.*770C>G (n.*770C>G)
c.*386C>G (n.*386C>G)
c.789C>G (p.Asp263Glu)
c.726C>G (p.Asp242Glu)
c.795C>G (p.Asp265Glu)
1g.6474046G=CA1151505750PLEKHG5c.558C= (p.Asp186=)
c.732C= (p.Asp244=)
c.669C= (p.Asp223=)
n.1034C=
c.765C= (p.Asp255=)
c.855C= (p.Asp285=)
c.*770C= (n.*770C=)
c.*386C= (n.*386C=)
c.789C= (p.Asp263=)
c.726C= (p.Asp242=)
c.795C= (p.Asp265=)
1g.6474046G>TCA338138495PLEKHG5c.558C>A (p.Asp186Glu)
c.732C>A (p.Asp244Glu)
c.669C>A (p.Asp223Glu)
n.1034C>A
c.765C>A (p.Asp255Glu)
c.855C>A (p.Asp285Glu)
c.*770C>A (n.*770C>A)
c.*386C>A (n.*386C>A)
c.789C>A (p.Asp263Glu)
c.726C>A (p.Asp242Glu)
c.795C>A (p.Asp265Glu)
1g.6474047T>ACA338138502PLEKHG5c.557A>T (p.Asp186Val)
c.731A>T (p.Asp244Val)
c.668A>T (p.Asp223Val)
n.1033A>T
c.764A>T (p.Asp255Val)
c.854A>T (p.Asp285Val)
c.*769A>T (n.*769A>T)
c.*385A>T (n.*385A>T)
c.788A>T (p.Asp263Val)
c.725A>T (p.Asp242Val)
c.794A>T (p.Asp265Val)
1g.6474047T>CCA338138500PLEKHG5c.557A>G (p.Asp186Gly)
c.731A>G (p.Asp244Gly)
c.668A>G (p.Asp223Gly)
n.1033A>G
c.764A>G (p.Asp255Gly)
c.854A>G (p.Asp285Gly)
c.*769A>G (n.*769A>G)
c.*385A>G (n.*385A>G)
c.788A>G (p.Asp263Gly)
c.725A>G (p.Asp242Gly)
c.794A>G (p.Asp265Gly)
1g.6474047T>GCA338138499PLEKHG5c.557A>C (p.Asp186Ala)
c.731A>C (p.Asp244Ala)
c.668A>C (p.Asp223Ala)
n.1033A>C
c.764A>C (p.Asp255Ala)
c.854A>C (p.Asp285Ala)
c.*769A>C (n.*769A>C)
c.*385A>C (n.*385A>C)
c.788A>C (p.Asp263Ala)
c.725A>C (p.Asp242Ala)
c.794A>C (p.Asp265Ala)
1g.6474048C>ACA338138504PLEKHG5c.556G>T (p.Asp186Tyr)
c.730G>T (p.Asp244Tyr)
c.667G>T (p.Asp223Tyr)
n.1032G>T
c.763G>T (p.Asp255Tyr)
c.853G>T (p.Asp285Tyr)
c.*768G>T (n.*768G>T)
c.*384G>T (n.*384G>T)
c.787G>T (p.Asp263Tyr)
c.724G>T (p.Asp242Tyr)
c.793G>T (p.Asp265Tyr)
1g.6474048C>GCA338138507PLEKHG5c.556G>C (p.Asp186His)
c.730G>C (p.Asp244His)
c.667G>C (p.Asp223His)
n.1032G>C
c.763G>C (p.Asp255His)
c.853G>C (p.Asp285His)
c.*768G>C (n.*768G>C)
c.*384G>C (n.*384G>C)
c.787G>C (p.Asp263His)
c.724G>C (p.Asp242His)
c.793G>C (p.Asp265His)
1g.6474048C>TCA338138510PLEKHG5c.556G>A (p.Asp186Asn)
c.730G>A (p.Asp244Asn)
c.667G>A (p.Asp223Asn)
n.1032G>A
c.763G>A (p.Asp255Asn)
c.853G>A (p.Asp285Asn)
c.*768G>A (n.*768G>A)
c.*384G>A (n.*384G>A)
c.787G>A (p.Asp263Asn)
c.724G>A (p.Asp242Asn)
c.793G>A (p.Asp265Asn)
 gnomAD v4
1g.6474049C>ACA415833915PLEKHG5c.555G>T (p.Val185=)
c.729G>T (p.Val243=)
c.666G>T (p.Val222=)
n.1031G>T
c.762G>T (p.Val254=)
c.852G>T (p.Val284=)
c.*767G>T (n.*767G>T)
c.*383G>T (n.*383G>T)
c.786G>T (p.Val262=)
c.723G>T (p.Val241=)
c.792G>T (p.Val264=)
1g.6474049C>GCA415833913PLEKHG5c.555G>C (p.Val185=)
c.729G>C (p.Val243=)
c.666G>C (p.Val222=)
n.1031G>C
c.762G>C (p.Val254=)
c.852G>C (p.Val284=)
c.*767G>C (n.*767G>C)
c.*383G>C (n.*383G>C)
c.786G>C (p.Val262=)
c.723G>C (p.Val241=)
c.792G>C (p.Val264=)
1g.6474049C>TCA415833914PLEKHG5c.555G>A (p.Val185=)
c.729G>A (p.Val243=)
c.666G>A (p.Val222=)
n.1031G>A
c.762G>A (p.Val254=)
c.852G>A (p.Val284=)
c.*767G>A (n.*767G>A)
c.*383G>A (n.*383G>A)
c.786G>A (p.Val262=)
c.723G>A (p.Val241=)
c.792G>A (p.Val264=)
1g.6474052_6474053delCA2642977451PLEKHG5c.554_555del (p.Val185GlyfsTer?)
c.728_729del (p.Val243GlyfsTer?)
c.665_666del (p.Val222GlyfsTer?)
n.1030_1031del
c.761_762del (p.Val254GlyfsTer?)
c.851_852del (p.Val284GlyfsTer?)
c.*766_*767del (n.*766_*767del)
c.*382_*383del (n.*382_*383del)
c.785_786del (p.Val262GlyfsTer?)
c.722_723del (p.Val241GlyfsTer?)
c.791_792del (p.Val264GlyfsTer?)
 gnomAD v4
1g.6474050A>CCA338138512PLEKHG5c.554T>G (p.Val185Gly)
c.728T>G (p.Val243Gly)
c.665T>G (p.Val222Gly)
n.1030T>G
c.761T>G (p.Val254Gly)
c.851T>G (p.Val284Gly)
c.*766T>G (n.*766T>G)
c.*382T>G (n.*382T>G)
c.785T>G (p.Val262Gly)
c.722T>G (p.Val241Gly)
c.791T>G (p.Val264Gly)
1g.6474050A>GCA338138514PLEKHG5c.554T>C (p.Val185Ala)
c.728T>C (p.Val243Ala)
c.665T>C (p.Val222Ala)
n.1030T>C
c.761T>C (p.Val254Ala)
c.851T>C (p.Val284Ala)
c.*766T>C (n.*766T>C)
c.*382T>C (n.*382T>C)
c.785T>C (p.Val262Ala)
c.722T>C (p.Val241Ala)
c.791T>C (p.Val264Ala)
1g.6474050A>TCA338138516PLEKHG5c.554T>A (p.Val185Glu)
c.728T>A (p.Val243Glu)
c.665T>A (p.Val222Glu)
n.1030T>A
c.761T>A (p.Val254Glu)
c.851T>A (p.Val284Glu)
c.*766T>A (n.*766T>A)
c.*382T>A (n.*382T>A)
c.785T>A (p.Val262Glu)
c.722T>A (p.Val241Glu)
c.791T>A (p.Val264Glu)
1g.6474051C>ACA338138519PLEKHG5c.553G>T (p.Val185Leu)
c.727G>T (p.Val243Leu)
c.664G>T (p.Val222Leu)
n.1029G>T
c.760G>T (p.Val254Leu)
c.850G>T (p.Val284Leu)
c.*765G>T (n.*765G>T)
c.*381G>T (n.*381G>T)
c.784G>T (p.Val262Leu)
c.721G>T (p.Val241Leu)
c.790G>T (p.Val264Leu)
 gnomAD v4
1g.6474051C>GCA338138524PLEKHG5c.553G>C (p.Val185Leu)
c.727G>C (p.Val243Leu)
c.664G>C (p.Val222Leu)
n.1029G>C
c.760G>C (p.Val254Leu)
c.850G>C (p.Val284Leu)
c.*765G>C (n.*765G>C)
c.*381G>C (n.*381G>C)
c.784G>C (p.Val262Leu)
c.721G>C (p.Val241Leu)
c.790G>C (p.Val264Leu)
1g.6474051C>TCA338138522PLEKHG5c.553G>A (p.Val185Met)
c.727G>A (p.Val243Met)
c.664G>A (p.Val222Met)
n.1029G>A
c.760G>A (p.Val254Met)
c.850G>A (p.Val284Met)
c.*765G>A (n.*765G>A)
c.*381G>A (n.*381G>A)
c.784G>A (p.Val262Met)
c.721G>A (p.Val241Met)
c.790G>A (p.Val264Met)
1g.6474052A=CA1151505753PLEKHG5c.552T= (p.Arg184=)
c.726T= (p.Arg242=)
c.663T= (p.Arg221=)
n.1028T=
c.759T= (p.Arg253=)
c.849T= (p.Arg283=)
c.*764T= (n.*764T=)
c.*380T= (n.*380T=)
c.783T= (p.Arg261=)
c.720T= (p.Arg240=)
c.789T= (p.Arg263=)
1g.6474052A>CCA415833916PLEKHG5c.552T>G (p.Arg184=)
c.726T>G (p.Arg242=)
c.663T>G (p.Arg221=)
n.1028T>G
c.759T>G (p.Arg253=)
c.849T>G (p.Arg283=)
c.*764T>G (n.*764T>G)
c.*380T>G (n.*380T>G)
c.783T>G (p.Arg261=)
c.720T>G (p.Arg240=)
c.789T>G (p.Arg263=)
 ClinVar dbSNP
1g.6474052A>GCA415833917PLEKHG5c.552T>C (p.Arg184=)
c.726T>C (p.Arg242=)
c.663T>C (p.Arg221=)
n.1028T>C
c.759T>C (p.Arg253=)
c.849T>C (p.Arg283=)
c.*764T>C (n.*764T>C)
c.*380T>C (n.*380T>C)
c.783T>C (p.Arg261=)
c.720T>C (p.Arg240=)
c.789T>C (p.Arg263=)
1g.6474052A>TCA415833918PLEKHG5c.552T>A (p.Arg184=)
c.726T>A (p.Arg242=)
c.663T>A (p.Arg221=)
n.1028T>A
c.759T>A (p.Arg253=)
c.849T>A (p.Arg283=)
c.*764T>A (n.*764T>A)
c.*380T>A (n.*380T>A)
c.783T>A (p.Arg261=)
c.720T>A (p.Arg240=)
c.789T>A (p.Arg263=)
1g.6474053C>ACA338138526PLEKHG5c.551G>T (p.Arg184Leu)
c.725G>T (p.Arg242Leu)
c.662G>T (p.Arg221Leu)
n.1027G>T
c.758G>T (p.Arg253Leu)
c.848G>T (p.Arg283Leu)
c.*763G>T (n.*763G>T)
c.*379G>T (n.*379G>T)
c.782G>T (p.Arg261Leu)
c.719G>T (p.Arg240Leu)
c.788G>T (p.Arg263Leu)
 gnomAD v4
1g.6474053C=CA1151505755PLEKHG5c.551G= (p.Arg184=)
c.725G= (p.Arg242=)
c.662G= (p.Arg221=)
n.1027G=
c.758G= (p.Arg253=)
c.848G= (p.Arg283=)
c.*763G= (n.*763G=)
c.*379G= (n.*379G=)
c.782G= (p.Arg261=)
c.719G= (p.Arg240=)
c.788G= (p.Arg263=)
1g.6474053C>GCA338138528PLEKHG5c.551G>C (p.Arg184Pro)
c.725G>C (p.Arg242Pro)
c.662G>C (p.Arg221Pro)
n.1027G>C
c.758G>C (p.Arg253Pro)
c.848G>C (p.Arg283Pro)
c.*763G>C (n.*763G>C)
c.*379G>C (n.*379G>C)
c.782G>C (p.Arg261Pro)
c.719G>C (p.Arg240Pro)
c.788G>C (p.Arg263Pro)
1g.6474053C>TCA561812PLEKHG5c.551G>A (p.Arg184His)
c.725G>A (p.Arg242His)
c.662G>A (p.Arg221His)
n.1027G>A
c.758G>A (p.Arg253His)
c.848G>A (p.Arg283His)
c.*763G>A (n.*763G>A)
c.*379G>A (n.*379G>A)
c.782G>A (p.Arg261His)
c.719G>A (p.Arg240His)
c.788G>A (p.Arg263His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.6474054G>ACA561813PLEKHG5c.550C>T (p.Arg184Cys)
c.724C>T (p.Arg242Cys)
c.661C>T (p.Arg221Cys)
n.1026C>T
c.757C>T (p.Arg253Cys)
c.847C>T (p.Arg283Cys)
c.*762C>T (n.*762C>T)
c.*378C>T (n.*378C>T)
c.781C>T (p.Arg261Cys)
c.718C>T (p.Arg240Cys)
c.787C>T (p.Arg263Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474054G>CCA338138534PLEKHG5c.550C>G (p.Arg184Gly)
c.724C>G (p.Arg242Gly)
c.661C>G (p.Arg221Gly)
n.1026C>G
c.757C>G (p.Arg253Gly)
c.847C>G (p.Arg283Gly)
c.*762C>G (n.*762C>G)
c.*378C>G (n.*378C>G)
c.781C>G (p.Arg261Gly)
c.718C>G (p.Arg240Gly)
c.787C>G (p.Arg263Gly)
1g.6474054G=CA1151505760PLEKHG5c.550C= (p.Arg184=)
c.724C= (p.Arg242=)
c.661C= (p.Arg221=)
n.1026C=
c.757C= (p.Arg253=)
c.847C= (p.Arg283=)
c.*762C= (n.*762C=)
c.*378C= (n.*378C=)
c.781C= (p.Arg261=)
c.718C= (p.Arg240=)
c.787C= (p.Arg263=)
1g.6474054G>TCA338138537PLEKHG5c.550C>A (p.Arg184Ser)
c.724C>A (p.Arg242Ser)
c.661C>A (p.Arg221Ser)
n.1026C>A
c.757C>A (p.Arg253Ser)
c.847C>A (p.Arg283Ser)
c.*762C>A (n.*762C>A)
c.*378C>A (n.*378C>A)
c.781C>A (p.Arg261Ser)
c.718C>A (p.Arg240Ser)
c.787C>A (p.Arg263Ser)
1g.6474055C>ACA338138539PLEKHG5c.549G>T (p.Glu183Asp)
c.723G>T (p.Glu241Asp)
c.660G>T (p.Glu220Asp)
n.1025G>T
c.756G>T (p.Glu252Asp)
c.846G>T (p.Glu282Asp)
c.*761G>T (n.*761G>T)
c.*377G>T (n.*377G>T)
c.780G>T (p.Glu260Asp)
c.717G>T (p.Glu239Asp)
c.786G>T (p.Glu262Asp)
1g.6474055C>GCA338138542PLEKHG5c.549G>C (p.Glu183Asp)
c.723G>C (p.Glu241Asp)
c.660G>C (p.Glu220Asp)
n.1025G>C
c.756G>C (p.Glu252Asp)
c.846G>C (p.Glu282Asp)
c.*761G>C (n.*761G>C)
c.*377G>C (n.*377G>C)
c.780G>C (p.Glu260Asp)
c.717G>C (p.Glu239Asp)
c.786G>C (p.Glu262Asp)
1g.6474055C>TCA415833919PLEKHG5c.549G>A (p.Glu183=)
c.723G>A (p.Glu241=)
c.660G>A (p.Glu220=)
n.1025G>A
c.756G>A (p.Glu252=)
c.846G>A (p.Glu282=)
c.*761G>A (n.*761G>A)
c.*377G>A (n.*377G>A)
c.780G>A (p.Glu260=)
c.717G>A (p.Glu239=)
c.786G>A (p.Glu262=)
 gnomAD v4
1g.6474056T>ACA338138546PLEKHG5c.548A>T (p.Glu183Val)
c.722A>T (p.Glu241Val)
c.659A>T (p.Glu220Val)
n.1024A>T
c.755A>T (p.Glu252Val)
c.845A>T (p.Glu282Val)
c.*760A>T (n.*760A>T)
c.*376A>T (n.*376A>T)
c.779A>T (p.Glu260Val)
c.716A>T (p.Glu239Val)
c.785A>T (p.Glu262Val)
1g.6474056T>CCA338138548PLEKHG5c.548A>G (p.Glu183Gly)
c.722A>G (p.Glu241Gly)
c.659A>G (p.Glu220Gly)
n.1024A>G
c.755A>G (p.Glu252Gly)
c.845A>G (p.Glu282Gly)
c.*760A>G (n.*760A>G)
c.*376A>G (n.*376A>G)
c.779A>G (p.Glu260Gly)
c.716A>G (p.Glu239Gly)
c.785A>G (p.Glu262Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.6474056T>GCA338138551PLEKHG5c.548A>C (p.Glu183Ala)
c.722A>C (p.Glu241Ala)
c.659A>C (p.Glu220Ala)
n.1024A>C
c.755A>C (p.Glu252Ala)
c.845A>C (p.Glu282Ala)
c.*760A>C (n.*760A>C)
c.*376A>C (n.*376A>C)
c.779A>C (p.Glu260Ala)
c.716A>C (p.Glu239Ala)
c.785A>C (p.Glu262Ala)
1g.6474056T=CA1151505770PLEKHG5c.548A= (p.Glu183=)
c.722A= (p.Glu241=)
c.659A= (p.Glu220=)
n.1024A=
c.755A= (p.Glu252=)
c.845A= (p.Glu282=)
c.*760A= (n.*760A=)
c.*376A= (n.*376A=)
c.779A= (p.Glu260=)
c.716A= (p.Glu239=)
c.785A= (p.Glu262=)
1g.6474057C>ACA338138554PLEKHG5c.547G>T (p.Glu183Ter)
c.721G>T (p.Glu241Ter)
c.658G>T (p.Glu220Ter)
n.1023G>T
c.754G>T (p.Glu252Ter)
c.844G>T (p.Glu282Ter)
c.*759G>T (n.*759G>T)
c.*375G>T (n.*375G>T)
c.778G>T (p.Glu260Ter)
c.715G>T (p.Glu239Ter)
c.784G>T (p.Glu262Ter)
1g.6474057C=CA1151505786PLEKHG5c.547G= (p.Glu183=)
c.721G= (p.Glu241=)
c.658G= (p.Glu220=)
n.1023G=
c.754G= (p.Glu252=)
c.844G= (p.Glu282=)
c.*759G= (n.*759G=)
c.*375G= (n.*375G=)
c.778G= (p.Glu260=)
c.715G= (p.Glu239=)
c.784G= (p.Glu262=)
1g.6474057C>GCA338138559PLEKHG5c.547G>C (p.Glu183Gln)
c.721G>C (p.Glu241Gln)
c.658G>C (p.Glu220Gln)
n.1023G>C
c.754G>C (p.Glu252Gln)
c.844G>C (p.Glu282Gln)
c.*759G>C (n.*759G>C)
c.*375G>C (n.*375G>C)
c.778G>C (p.Glu260Gln)
c.715G>C (p.Glu239Gln)
c.784G>C (p.Glu262Gln)
1g.6474057C>TCA10610281PLEKHG5c.547G>A (p.Glu183Lys)
c.721G>A (p.Glu241Lys)
c.658G>A (p.Glu220Lys)
n.1023G>A
c.754G>A (p.Glu252Lys)
c.844G>A (p.Glu282Lys)
c.*759G>A (n.*759G>A)
c.*375G>A (n.*375G>A)
c.778G>A (p.Glu260Lys)
c.715G>A (p.Glu239Lys)
c.784G>A (p.Glu262Lys)
 ClinVar dbSNP gnomAD v4
1g.6474058C>ACA415833921PLEKHG5c.546G>T (p.Leu182=)
c.720G>T (p.Leu240=)
c.657G>T (p.Leu219=)
n.1022G>T
c.753G>T (p.Leu251=)
c.843G>T (p.Leu281=)
c.*758G>T (n.*758G>T)
c.*374G>T (n.*374G>T)
c.777G>T (p.Leu259=)
c.714G>T (p.Leu238=)
c.783G>T (p.Leu261=)
1g.6474058C>GCA415833922PLEKHG5c.546G>C (p.Leu182=)
c.720G>C (p.Leu240=)
c.657G>C (p.Leu219=)
n.1022G>C
c.753G>C (p.Leu251=)
c.843G>C (p.Leu281=)
c.*758G>C (n.*758G>C)
c.*374G>C (n.*374G>C)
c.777G>C (p.Leu259=)
c.714G>C (p.Leu238=)
c.783G>C (p.Leu261=)
1g.6474058C>TCA415833923PLEKHG5c.546G>A (p.Leu182=)
c.720G>A (p.Leu240=)
c.657G>A (p.Leu219=)
n.1022G>A
c.753G>A (p.Leu251=)
c.843G>A (p.Leu281=)
c.*758G>A (n.*758G>A)
c.*374G>A (n.*374G>A)
c.777G>A (p.Leu259=)
c.714G>A (p.Leu238=)
c.783G>A (p.Leu261=)
1g.6474059A>CCA338138561PLEKHG5c.545T>G (p.Leu182Arg)
c.719T>G (p.Leu240Arg)
c.656T>G (p.Leu219Arg)
n.1021T>G
c.752T>G (p.Leu251Arg)
c.842T>G (p.Leu281Arg)
c.*757T>G (n.*757T>G)
c.*373T>G (n.*373T>G)
c.776T>G (p.Leu259Arg)
c.713T>G (p.Leu238Arg)
c.782T>G (p.Leu261Arg)
1g.6474059A>GCA338138562PLEKHG5c.545T>C (p.Leu182Pro)
c.719T>C (p.Leu240Pro)
c.656T>C (p.Leu219Pro)
n.1021T>C
c.752T>C (p.Leu251Pro)
c.842T>C (p.Leu281Pro)
c.*757T>C (n.*757T>C)
c.*373T>C (n.*373T>C)
c.776T>C (p.Leu259Pro)
c.713T>C (p.Leu238Pro)
c.782T>C (p.Leu261Pro)
1g.6474059A>TCA338138565PLEKHG5c.545T>A (p.Leu182Gln)
c.719T>A (p.Leu240Gln)
c.656T>A (p.Leu219Gln)
n.1021T>A
c.752T>A (p.Leu251Gln)
c.842T>A (p.Leu281Gln)
c.*757T>A (n.*757T>A)
c.*373T>A (n.*373T>A)
c.776T>A (p.Leu259Gln)
c.713T>A (p.Leu238Gln)
c.782T>A (p.Leu261Gln)
1g.6474060G>ACA415833924PLEKHG5c.544C>T (p.Leu182=)
c.718C>T (p.Leu240=)
c.655C>T (p.Leu219=)
n.1020C>T
c.751C>T (p.Leu251=)
c.841C>T (p.Leu281=)
c.*756C>T (n.*756C>T)
c.*372C>T (n.*372C>T)
c.775C>T (p.Leu259=)
c.712C>T (p.Leu238=)
c.781C>T (p.Leu261=)
1g.6474060G>CCA338138567PLEKHG5c.544C>G (p.Leu182Val)
c.718C>G (p.Leu240Val)
c.655C>G (p.Leu219Val)
n.1020C>G
c.751C>G (p.Leu251Val)
c.841C>G (p.Leu281Val)
c.*756C>G (n.*756C>G)
c.*372C>G (n.*372C>G)
c.775C>G (p.Leu259Val)
c.712C>G (p.Leu238Val)
c.781C>G (p.Leu261Val)
1g.6474060G=CA1151505790PLEKHG5c.544C= (p.Leu182=)
c.718C= (p.Leu240=)
c.655C= (p.Leu219=)
n.1020C=
c.751C= (p.Leu251=)
c.841C= (p.Leu281=)
c.*756C= (n.*756C=)
c.*372C= (n.*372C=)
c.775C= (p.Leu259=)
c.712C= (p.Leu238=)
c.781C= (p.Leu261=)
1g.6474060G>TCA338138568PLEKHG5c.544C>A (p.Leu182Met)
c.718C>A (p.Leu240Met)
c.655C>A (p.Leu219Met)
n.1020C>A
c.751C>A (p.Leu251Met)
c.841C>A (p.Leu281Met)
c.*756C>A (n.*756C>A)
c.*372C>A (n.*372C>A)
c.775C>A (p.Leu259Met)
c.712C>A (p.Leu238Met)
c.781C>A (p.Leu261Met)
 dbSNP gnomAD v2
1g.6474060_6474151delinsGGGCGGGGGGCCCGGTCCCAGCTGGCCGCAGAATCGGCAAACTCAGGGACTTGGAGTCCTTCATGCCCTGCTCCACCTTGCCCTCATCTCCACA1151505791PLEKHG5c.453_544delinsTGGAGATGAGGGCAAGGTGGAGCAGGGCATGAAGGACTCCAAGTCCCTGAGTTTGCCGATTCTGCGGCCAGCTGGGACCGGGCCCCCCGCCC (p.Pro151=)
c.627_718delinsTGGAGATGAGGGCAAGGTGGAGCAGGGCATGAAGGACTCCAAGTCCCTGAGTTTGCCGATTCTGCGGCCAGCTGGGACCGGGCCCCCCGCCC (p.Pro209=)
c.564_655delinsTGGAGATGAGGGCAAGGTGGAGCAGGGCATGAAGGACTCCAAGTCCCTGAGTTTGCCGATTCTGCGGCCAGCTGGGACCGGGCCCCCCGCCC (p.Pro188=)
n.929_1020delinsTGGAGATGAGGGCAAGGTGGAGCAGGGCATGAAGGACTCCAAGTCCCTGAGTTTGCCGATTCTGCGGCCAGCTGGGACCGGGCCCCCCGCCC
c.660_751delinsTGGAGATGAGGGCAAGGTGGAGCAGGGCATGAAGGACTCCAAGTCCCTGAGTTTGCCGATTCTGCGGCCAGCTGGGACCGGGCCCCCCGCCC (p.Pro220=)
c.750_841delinsTGGAGATGAGGGCAAGGTGGAGCAGGGCATGAAGGACTCCAAGTCCCTGAGTTTGCCGATTCTGCGGCCAGCTGGGACCGGGCCCCCCGCCC (p.Pro250=)
c.*665_*756delinsTGGAGATGAGGGCAAGGTGGAGCAGGGCATGAAGGACTCCAAGTCCCTGAGTTTGCCGATTCTGCGGCCAGCTGGGACCGGGCCCCCCGCCC (n.*665_*756delinsTGGAGATGAGGGCAAGGTGGAGCAGGGCATGAAGGACTCCAAGTCCCTGAGTTTGCCGATTCTGCGGCCAGCTGGGACCGGGCCCCCCGCCC)
c.*281_*372delinsTGGAGATGAGGGCAAGGTGGAGCAGGGCATGAAGGACTCCAAGTCCCTGAGTTTGCCGATTCTGCGGCCAGCTGGGACCGGGCCCCCCGCCC (n.*281_*372delinsTGGAGATGAGGGCAAGGTGGAGCAGGGCATGAAGGACTCCAAGTCCCTGAGTTTGCCGATTCTGCGGCCAGCTGGGACCGGGCCCCCCGCCC)
c.684_775delinsTGGAGATGAGGGCAAGGTGGAGCAGGGCATGAAGGACTCCAAGTCCCTGAGTTTGCCGATTCTGCGGCCAGCTGGGACCGGGCCCCCCGCCC (p.Pro228=)
c.621_712delinsTGGAGATGAGGGCAAGGTGGAGCAGGGCATGAAGGACTCCAAGTCCCTGAGTTTGCCGATTCTGCGGCCAGCTGGGACCGGGCCCCCCGCCC (p.Pro207=)
c.690_781delinsTGGAGATGAGGGCAAGGTGGAGCAGGGCATGAAGGACTCCAAGTCCCTGAGTTTGCCGATTCTGCGGCCAGCTGGGACCGGGCCCCCCGCCC (p.Pro230=)
1g.6474061G>ACA415833925PLEKHG5c.543C>T (p.Ala181=)
c.717C>T (p.Ala239=)
c.654C>T (p.Ala218=)
n.1019C>T
c.750C>T (p.Ala250=)
c.840C>T (p.Ala280=)
c.*755C>T (n.*755C>T)
c.*371C>T (n.*371C>T)
c.774C>T (p.Ala258=)
c.711C>T (p.Ala237=)
c.780C>T (p.Ala260=)
1g.6474061G>CCA415833926PLEKHG5c.543C>G (p.Ala181=)
c.717C>G (p.Ala239=)
c.654C>G (p.Ala218=)
n.1019C>G
c.750C>G (p.Ala250=)
c.840C>G (p.Ala280=)
c.*755C>G (n.*755C>G)
c.*371C>G (n.*371C>G)
c.774C>G (p.Ala258=)
c.711C>G (p.Ala237=)
c.780C>G (p.Ala260=)
 dbSNP gnomAD v4
1g.6474061G=CA1151505799PLEKHG5c.543C= (p.Ala181=)
c.717C= (p.Ala239=)
c.654C= (p.Ala218=)
n.1019C=
c.750C= (p.Ala250=)
c.840C= (p.Ala280=)
c.*755C= (n.*755C=)
c.*371C= (n.*371C=)
c.774C= (p.Ala258=)
c.711C= (p.Ala237=)
c.780C= (p.Ala260=)
1g.6474061G>TCA415833927PLEKHG5c.543C>A (p.Ala181=)
c.717C>A (p.Ala239=)
c.654C>A (p.Ala218=)
n.1019C>A
c.750C>A (p.Ala250=)
c.840C>A (p.Ala280=)
c.*755C>A (n.*755C>A)
c.*371C>A (n.*371C>A)
c.774C>A (p.Ala258=)
c.711C>A (p.Ala237=)
c.780C>A (p.Ala260=)
1g.6474064_6474154delCA915941107PLEKHG5c.453_543del (p.Gly152TrpfsTer?)
c.627_717del (p.Gly210TrpfsTer?)
c.564_654del (p.Gly189TrpfsTer?)
n.929_1019del
c.660_750del (p.Gly221TrpfsTer?)
c.750_840del (p.Gly251TrpfsTer?)
c.*665_*755del (n.*665_*755del)
c.*281_*371del (n.*281_*371del)
c.684_774del (p.Gly229TrpfsTer?)
c.621_711del (p.Gly208TrpfsTer?)
c.690_780del (p.Gly231TrpfsTer?)
 ClinVar dbSNP
1g.6474062G>ACA338138571PLEKHG5c.542C>T (p.Ala181Val)
c.716C>T (p.Ala239Val)
c.653C>T (p.Ala218Val)
n.1018C>T
c.749C>T (p.Ala250Val)
c.839C>T (p.Ala280Val)
c.*754C>T (n.*754C>T)
c.*370C>T (n.*370C>T)
c.773C>T (p.Ala258Val)
c.710C>T (p.Ala237Val)
c.779C>T (p.Ala260Val)
 gnomAD v4
1g.6474062G>CCA338138572PLEKHG5c.542C>G (p.Ala181Gly)
c.716C>G (p.Ala239Gly)
c.653C>G (p.Ala218Gly)
n.1018C>G
c.749C>G (p.Ala250Gly)
c.839C>G (p.Ala280Gly)
c.*754C>G (n.*754C>G)
c.*370C>G (n.*370C>G)
c.773C>G (p.Ala258Gly)
c.710C>G (p.Ala237Gly)
c.779C>G (p.Ala260Gly)
1g.6474062G>TCA338138574PLEKHG5c.542C>A (p.Ala181Asp)
c.716C>A (p.Ala239Asp)
c.653C>A (p.Ala218Asp)
n.1018C>A
c.749C>A (p.Ala250Asp)
c.839C>A (p.Ala280Asp)
c.*754C>A (n.*754C>A)
c.*370C>A (n.*370C>A)
c.773C>A (p.Ala258Asp)
c.710C>A (p.Ala237Asp)
c.779C>A (p.Ala260Asp)
1g.6474063C>ACA338138576PLEKHG5c.541G>T (p.Ala181Ser)
c.715G>T (p.Ala239Ser)
c.652G>T (p.Ala218Ser)
n.1017G>T
c.748G>T (p.Ala250Ser)
c.838G>T (p.Ala280Ser)
c.*753G>T (n.*753G>T)
c.*369G>T (n.*369G>T)
c.772G>T (p.Ala258Ser)
c.709G>T (p.Ala237Ser)
c.778G>T (p.Ala260Ser)
 gnomAD v4
1g.6474063C=CA1144240635PLEKHG5c.541G= (p.Ala181=)
c.715G= (p.Ala239=)
c.652G= (p.Ala218=)
n.1017G=
c.748G= (p.Ala250=)
c.838G= (p.Ala280=)
c.*753G= (n.*753G=)
c.*369G= (n.*369G=)
c.772G= (p.Ala258=)
c.709G= (p.Ala237=)
c.778G= (p.Ala260=)
1g.6474063C>GCA561815PLEKHG5c.541G>C (p.Ala181Pro)
c.715G>C (p.Ala239Pro)
c.652G>C (p.Ala218Pro)
n.1017G>C
c.748G>C (p.Ala250Pro)
c.838G>C (p.Ala280Pro)
c.*753G>C (n.*753G>C)
c.*369G>C (n.*369G>C)
c.772G>C (p.Ala258Pro)
c.709G>C (p.Ala237Pro)
c.778G>C (p.Ala260Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.6474063C>TCA561814PLEKHG5c.541G>A (p.Ala181Thr)
c.715G>A (p.Ala239Thr)
c.652G>A (p.Ala218Thr)
n.1017G>A
c.748G>A (p.Ala250Thr)
c.838G>A (p.Ala280Thr)
c.*753G>A (n.*753G>A)
c.*369G>A (n.*369G>A)
c.772G>A (p.Ala258Thr)
c.709G>A (p.Ala237Thr)
c.778G>A (p.Ala260Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474064G>ACA561816PLEKHG5c.540C>T (p.Pro180=)
c.714C>T (p.Pro238=)
c.651C>T (p.Pro217=)
n.1016C>T
c.747C>T (p.Pro249=)
c.837C>T (p.Pro279=)
c.*752C>T (n.*752C>T)
c.*368C>T (n.*368C>T)
c.771C>T (p.Pro257=)
c.708C>T (p.Pro236=)
c.777C>T (p.Pro259=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474064G>CCA561817PLEKHG5c.540C>G (p.Pro180=)
c.714C>G (p.Pro238=)
c.651C>G (p.Pro217=)
n.1016C>G
c.747C>G (p.Pro249=)
c.837C>G (p.Pro279=)
c.*752C>G (n.*752C>G)
c.*368C>G (n.*368C>G)
c.771C>G (p.Pro257=)
c.708C>G (p.Pro236=)
c.777C>G (p.Pro259=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474064G=CA1143874641PLEKHG5c.540C= (p.Pro180=)
c.714C= (p.Pro238=)
c.651C= (p.Pro217=)
n.1016C=
c.747C= (p.Pro249=)
c.837C= (p.Pro279=)
c.*752C= (n.*752C=)
c.*368C= (n.*368C=)
c.771C= (p.Pro257=)
c.708C= (p.Pro236=)
c.777C= (p.Pro259=)
1g.6474064G>TCA415833929PLEKHG5c.540C>A (p.Pro180=)
c.714C>A (p.Pro238=)
c.651C>A (p.Pro217=)
n.1016C>A
c.747C>A (p.Pro249=)
c.837C>A (p.Pro279=)
c.*752C>A (n.*752C>A)
c.*368C>A (n.*368C>A)
c.771C>A (p.Pro257=)
c.708C>A (p.Pro236=)
c.777C>A (p.Pro259=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.6474069dupCA645511764PLEKHG5c.540dup (p.Ala181ArgfsTer?)
c.714dup (p.Ala239ArgfsTer?)
c.651dup (p.Ala218ArgfsTer?)
n.1016dup
c.747dup (p.Ala250ArgfsTer?)
c.837dup (p.Ala280ArgfsTer?)
c.*752dup (n.*752dup)
c.*368dup (n.*368dup)
c.771dup (p.Ala258ArgfsTer?)
c.708dup (p.Ala237ArgfsTer?)
c.777dup (p.Ala260ArgfsTer?)
 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
1g.6474069delCA2642977486PLEKHG5c.540del (p.Ala181ProfsTer?)
c.714del (p.Ala239ProfsTer?)
c.651del (p.Ala218ProfsTer?)
n.1016del
c.747del (p.Ala250ProfsTer?)
c.837del (p.Ala280ProfsTer?)
c.*752del (n.*752del)
c.*368del (n.*368del)
c.771del (p.Ala258ProfsTer?)
c.708del (p.Ala237ProfsTer?)
c.777del (p.Ala260ProfsTer?)
 gnomAD v4
1g.6474065G>ACA338138582PLEKHG5c.539C>T (p.Pro180Leu)
c.713C>T (p.Pro238Leu)
c.650C>T (p.Pro217Leu)
n.1015C>T
c.746C>T (p.Pro249Leu)
c.836C>T (p.Pro279Leu)
c.*751C>T (n.*751C>T)
c.*367C>T (n.*367C>T)
c.770C>T (p.Pro257Leu)
c.707C>T (p.Pro236Leu)
c.776C>T (p.Pro259Leu)
 COSMIC COSMIC COSMIC
1g.6474065G>CCA338138586PLEKHG5c.539C>G (p.Pro180Arg)
c.713C>G (p.Pro238Arg)
c.650C>G (p.Pro217Arg)
n.1015C>G
c.746C>G (p.Pro249Arg)
c.836C>G (p.Pro279Arg)
c.*751C>G (n.*751C>G)
c.*367C>G (n.*367C>G)
c.770C>G (p.Pro257Arg)
c.707C>G (p.Pro236Arg)
c.776C>G (p.Pro259Arg)
1g.6474065G=CA1151505830PLEKHG5c.539C= (p.Pro180=)
c.713C= (p.Pro238=)
c.650C= (p.Pro217=)
n.1015C=
c.746C= (p.Pro249=)
c.836C= (p.Pro279=)
c.*751C= (n.*751C=)
c.*367C= (n.*367C=)
c.770C= (p.Pro257=)
c.707C= (p.Pro236=)
c.776C= (p.Pro259=)
1g.6474065G>TCA338138584PLEKHG5c.539C>A (p.Pro180His)
c.713C>A (p.Pro238His)
c.650C>A (p.Pro217His)
n.1015C>A
c.746C>A (p.Pro249His)
c.836C>A (p.Pro279His)
c.*751C>A (n.*751C>A)
c.*367C>A (n.*367C>A)
c.770C>A (p.Pro257His)
c.707C>A (p.Pro236His)
c.776C>A (p.Pro259His)
 dbSNP gnomAD v4
1g.6474066G>ACA561818PLEKHG5c.538C>T (p.Pro180Ser)
c.712C>T (p.Pro238Ser)
c.649C>T (p.Pro217Ser)
n.1014C>T
c.745C>T (p.Pro249Ser)
c.835C>T (p.Pro279Ser)
c.*750C>T (n.*750C>T)
c.*366C>T (n.*366C>T)
c.769C>T (p.Pro257Ser)
c.706C>T (p.Pro236Ser)
c.775C>T (p.Pro259Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474066G>CCA338138588PLEKHG5c.538C>G (p.Pro180Ala)
c.712C>G (p.Pro238Ala)
c.649C>G (p.Pro217Ala)
n.1014C>G
c.745C>G (p.Pro249Ala)
c.835C>G (p.Pro279Ala)
c.*750C>G (n.*750C>G)
c.*366C>G (n.*366C>G)
c.769C>G (p.Pro257Ala)
c.706C>G (p.Pro236Ala)
c.775C>G (p.Pro259Ala)
1g.6474066G=CA1151505832PLEKHG5c.538C= (p.Pro180=)
c.712C= (p.Pro238=)
c.649C= (p.Pro217=)
n.1014C=
c.745C= (p.Pro249=)
c.835C= (p.Pro279=)
c.*750C= (n.*750C=)
c.*366C= (n.*366C=)
c.769C= (p.Pro257=)
c.706C= (p.Pro236=)
c.775C= (p.Pro259=)
1g.6474066G>TCA338138590PLEKHG5c.538C>A (p.Pro180Thr)
c.712C>A (p.Pro238Thr)
c.649C>A (p.Pro217Thr)
n.1014C>A
c.745C>A (p.Pro249Thr)
c.835C>A (p.Pro279Thr)
c.*750C>A (n.*750C>A)
c.*366C>A (n.*366C>A)
c.769C>A (p.Pro257Thr)
c.706C>A (p.Pro236Thr)
c.775C>A (p.Pro259Thr)
1g.6474067G>ACA415833930PLEKHG5c.537C>T (p.Pro179=)
c.711C>T (p.Pro237=)
c.648C>T (p.Pro216=)
n.1013C>T
c.744C>T (p.Pro248=)
c.834C>T (p.Pro278=)
c.*749C>T (n.*749C>T)
c.*365C>T (n.*365C>T)
c.768C>T (p.Pro256=)
c.705C>T (p.Pro235=)
c.774C>T (p.Pro258=)
 gnomAD v4
1g.6474067G>CCA415833931PLEKHG5c.537C>G (p.Pro179=)
c.711C>G (p.Pro237=)
c.648C>G (p.Pro216=)
n.1013C>G
c.744C>G (p.Pro248=)
c.834C>G (p.Pro278=)
c.*749C>G (n.*749C>G)
c.*365C>G (n.*365C>G)
c.768C>G (p.Pro256=)
c.705C>G (p.Pro235=)
c.774C>G (p.Pro258=)
 gnomAD v4
1g.6474067G=CA1144028778PLEKHG5c.537C= (p.Pro179=)
c.711C= (p.Pro237=)
c.648C= (p.Pro216=)
n.1013C=
c.744C= (p.Pro248=)
c.834C= (p.Pro278=)
c.*749C= (n.*749C=)
c.*365C= (n.*365C=)
c.768C= (p.Pro256=)
c.705C= (p.Pro235=)
c.774C= (p.Pro258=)
1g.6474067G>TCA561819PLEKHG5c.537C>A (p.Pro179=)
c.711C>A (p.Pro237=)
c.648C>A (p.Pro216=)
n.1013C>A
c.744C>A (p.Pro248=)
c.834C>A (p.Pro278=)
c.*749C>A (n.*749C>A)
c.*365C>A (n.*365C>A)
c.768C>A (p.Pro256=)
c.705C>A (p.Pro235=)
c.774C>A (p.Pro258=)
 ClinVar dbSNP ExAC gnomAD v2
1g.6474068G>ACA338138591PLEKHG5c.536C>T (p.Pro179Leu)
c.710C>T (p.Pro237Leu)
c.647C>T (p.Pro216Leu)
n.1012C>T
c.743C>T (p.Pro248Leu)
c.833C>T (p.Pro278Leu)
c.*748C>T (n.*748C>T)
c.*364C>T (n.*364C>T)
c.767C>T (p.Pro256Leu)
c.704C>T (p.Pro235Leu)
c.773C>T (p.Pro258Leu)
1g.6474068G>CCA338138593PLEKHG5c.536C>G (p.Pro179Arg)
c.710C>G (p.Pro237Arg)
c.647C>G (p.Pro216Arg)
n.1012C>G
c.743C>G (p.Pro248Arg)
c.833C>G (p.Pro278Arg)
c.*748C>G (n.*748C>G)
c.*364C>G (n.*364C>G)
c.767C>G (p.Pro256Arg)
c.704C>G (p.Pro235Arg)
c.773C>G (p.Pro258Arg)
1g.6474068G>TCA338138594PLEKHG5c.536C>A (p.Pro179His)
c.710C>A (p.Pro237His)
c.647C>A (p.Pro216His)
n.1012C>A
c.743C>A (p.Pro248His)
c.833C>A (p.Pro278His)
c.*748C>A (n.*748C>A)
c.*364C>A (n.*364C>A)
c.767C>A (p.Pro256His)
c.704C>A (p.Pro235His)
c.773C>A (p.Pro258His)
1g.6474069G>ACA338138596PLEKHG5c.535C>T (p.Pro179Ser)
c.709C>T (p.Pro237Ser)
c.646C>T (p.Pro216Ser)
n.1011C>T
c.742C>T (p.Pro248Ser)
c.832C>T (p.Pro278Ser)
c.*747C>T (n.*747C>T)
c.*363C>T (n.*363C>T)
c.766C>T (p.Pro256Ser)
c.703C>T (p.Pro235Ser)
c.772C>T (p.Pro258Ser)
 ClinVar dbSNP gnomAD v4
1g.6474069G>CCA338138598PLEKHG5c.535C>G (p.Pro179Ala)
c.709C>G (p.Pro237Ala)
c.646C>G (p.Pro216Ala)
n.1011C>G
c.742C>G (p.Pro248Ala)
c.832C>G (p.Pro278Ala)
c.*747C>G (n.*747C>G)
c.*363C>G (n.*363C>G)
c.766C>G (p.Pro256Ala)
c.703C>G (p.Pro235Ala)
c.772C>G (p.Pro258Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.6474069G=CA1151505840PLEKHG5c.535C= (p.Pro179=)
c.709C= (p.Pro237=)
c.646C= (p.Pro216=)
n.1011C=
c.742C= (p.Pro248=)
c.832C= (p.Pro278=)
c.*747C= (n.*747C=)
c.*363C= (n.*363C=)
c.766C= (p.Pro256=)
c.703C= (p.Pro235=)
c.772C= (p.Pro258=)
1g.6474069G>TCA338138600PLEKHG5c.535C>A (p.Pro179Thr)
c.709C>A (p.Pro237Thr)
c.646C>A (p.Pro216Thr)
n.1011C>A
c.742C>A (p.Pro248Thr)
c.832C>A (p.Pro278Thr)
c.*747C>A (n.*747C>A)
c.*363C>A (n.*363C>A)
c.766C>A (p.Pro256Thr)
c.703C>A (p.Pro235Thr)
c.772C>A (p.Pro258Thr)
 gnomAD v4
1g.6474070C>ACA415833932PLEKHG5c.534G>T (p.Gly178=)
c.708G>T (p.Gly236=)
c.645G>T (p.Gly215=)
n.1010G>T
c.741G>T (p.Gly247=)
c.831G>T (p.Gly277=)
c.*746G>T (n.*746G>T)
c.*362G>T (n.*362G>T)
c.765G>T (p.Gly255=)
c.702G>T (p.Gly234=)
c.771G>T (p.Gly257=)
 ClinVar dbSNP
1g.6474070C=CA1151505850PLEKHG5c.534G= (p.Gly178=)
c.708G= (p.Gly236=)
c.645G= (p.Gly215=)
n.1010G=
c.741G= (p.Gly247=)
c.831G= (p.Gly277=)
c.*746G= (n.*746G=)
c.*362G= (n.*362G=)
c.765G= (p.Gly255=)
c.702G= (p.Gly234=)
c.771G= (p.Gly257=)
1g.6474070C>GCA415833934PLEKHG5c.534G>C (p.Gly178=)
c.708G>C (p.Gly236=)
c.645G>C (p.Gly215=)
n.1010G>C
c.741G>C (p.Gly247=)
c.831G>C (p.Gly277=)
c.*746G>C (n.*746G>C)
c.*362G>C (n.*362G>C)
c.765G>C (p.Gly255=)
c.702G>C (p.Gly234=)
c.771G>C (p.Gly257=)
 gnomAD v4
1g.6474070C>TCA415833933PLEKHG5c.534G>A (p.Gly178=)
c.708G>A (p.Gly236=)
c.645G>A (p.Gly215=)
n.1010G>A
c.741G>A (p.Gly247=)
c.831G>A (p.Gly277=)
c.*746G>A (n.*746G>A)
c.*362G>A (n.*362G>A)
c.765G>A (p.Gly255=)
c.702G>A (p.Gly234=)
c.771G>A (p.Gly257=)
 gnomAD v4
1g.6474071C>ACA338138604PLEKHG5c.533G>T (p.Gly178Val)
c.707G>T (p.Gly236Val)
c.644G>T (p.Gly215Val)
n.1009G>T
c.740G>T (p.Gly247Val)
c.830G>T (p.Gly277Val)
c.*745G>T (n.*745G>T)
c.*361G>T (n.*361G>T)
c.764G>T (p.Gly255Val)
c.701G>T (p.Gly234Val)
c.770G>T (p.Gly257Val)
1g.6474071C>GCA338138605PLEKHG5c.533G>C (p.Gly178Ala)
c.707G>C (p.Gly236Ala)
c.644G>C (p.Gly215Ala)
n.1009G>C
c.740G>C (p.Gly247Ala)
c.830G>C (p.Gly277Ala)
c.*745G>C (n.*745G>C)
c.*361G>C (n.*361G>C)
c.764G>C (p.Gly255Ala)
c.701G>C (p.Gly234Ala)
c.770G>C (p.Gly257Ala)
1g.6474071C>TCA338138602PLEKHG5c.533G>A (p.Gly178Glu)
c.707G>A (p.Gly236Glu)
c.644G>A (p.Gly215Glu)
n.1009G>A
c.740G>A (p.Gly247Glu)
c.830G>A (p.Gly277Glu)
c.*745G>A (n.*745G>A)
c.*361G>A (n.*361G>A)
c.764G>A (p.Gly255Glu)
c.701G>A (p.Gly234Glu)
c.770G>A (p.Gly257Glu)
1g.6474072C>ACA338138609PLEKHG5c.532G>T (p.Gly178Trp)
c.706G>T (p.Gly236Trp)
c.643G>T (p.Gly215Trp)
n.1008G>T
c.739G>T (p.Gly247Trp)
c.829G>T (p.Gly277Trp)
c.*744G>T (n.*744G>T)
c.*360G>T (n.*360G>T)
c.763G>T (p.Gly255Trp)
c.700G>T (p.Gly234Trp)
c.769G>T (p.Gly257Trp)
 COSMIC COSMIC COSMIC
1g.6474072C=CA1141931907PLEKHG5c.532G= (p.Gly178=)
c.706G= (p.Gly236=)
c.643G= (p.Gly215=)
n.1008G=
c.739G= (p.Gly247=)
c.829G= (p.Gly277=)
c.*744G= (n.*744G=)
c.*360G= (n.*360G=)
c.763G= (p.Gly255=)
c.700G= (p.Gly234=)
c.769G= (p.Gly257=)
1g.6474072C>GCA561821PLEKHG5c.532G>C (p.Gly178Arg)
c.706G>C (p.Gly236Arg)
c.643G>C (p.Gly215Arg)
n.1008G>C
c.739G>C (p.Gly247Arg)
c.829G>C (p.Gly277Arg)
c.*744G>C (n.*744G>C)
c.*360G>C (n.*360G>C)
c.763G>C (p.Gly255Arg)
c.700G>C (p.Gly234Arg)
c.769G>C (p.Gly257Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474072C>TCA561820PLEKHG5c.532G>A (p.Gly178Arg)
c.706G>A (p.Gly236Arg)
c.643G>A (p.Gly215Arg)
n.1008G>A
c.739G>A (p.Gly247Arg)
c.829G>A (p.Gly277Arg)
c.*744G>A (n.*744G>A)
c.*360G>A (n.*360G>A)
c.763G>A (p.Gly255Arg)
c.700G>A (p.Gly234Arg)
c.769G>A (p.Gly257Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474073G>ACA561822PLEKHG5c.531C>T (p.Thr177=)
c.705C>T (p.Thr235=)
c.642C>T (p.Thr214=)
n.1007C>T
c.738C>T (p.Thr246=)
c.828C>T (p.Thr276=)
c.*743C>T (n.*743C>T)
c.*359C>T (n.*359C>T)
c.762C>T (p.Thr254=)
c.699C>T (p.Thr233=)
c.768C>T (p.Thr256=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474073G>CCA415833936PLEKHG5c.531C>G (p.Thr177=)
c.705C>G (p.Thr235=)
c.642C>G (p.Thr214=)
n.1007C>G
c.738C>G (p.Thr246=)
c.828C>G (p.Thr276=)
c.*743C>G (n.*743C>G)
c.*359C>G (n.*359C>G)
c.762C>G (p.Thr254=)
c.699C>G (p.Thr233=)
c.768C>G (p.Thr256=)
 gnomAD v4
1g.6474073G=CA1147267477PLEKHG5c.531C= (p.Thr177=)
c.705C= (p.Thr235=)
c.642C= (p.Thr214=)
n.1007C=
c.738C= (p.Thr246=)
c.828C= (p.Thr276=)
c.*743C= (n.*743C=)
c.*359C= (n.*359C=)
c.762C= (p.Thr254=)
c.699C= (p.Thr233=)
c.768C= (p.Thr256=)
1g.6474073G>TCA415833937PLEKHG5c.531C>A (p.Thr177=)
c.705C>A (p.Thr235=)
c.642C>A (p.Thr214=)
n.1007C>A
c.738C>A (p.Thr246=)
c.828C>A (p.Thr276=)
c.*743C>A (n.*743C>A)
c.*359C>A (n.*359C>A)
c.762C>A (p.Thr254=)
c.699C>A (p.Thr233=)
c.768C>A (p.Thr256=)
1g.6474074G>ACA338138613PLEKHG5c.530C>T (p.Thr177Ile)
c.704C>T (p.Thr235Ile)
c.641C>T (p.Thr214Ile)
n.1006C>T
c.737C>T (p.Thr246Ile)
c.827C>T (p.Thr276Ile)
c.*742C>T (n.*742C>T)
c.*358C>T (n.*358C>T)
c.761C>T (p.Thr254Ile)
c.698C>T (p.Thr233Ile)
c.767C>T (p.Thr256Ile)
1g.6474074G>CCA338138614PLEKHG5c.530C>G (p.Thr177Ser)
c.704C>G (p.Thr235Ser)
c.641C>G (p.Thr214Ser)
n.1006C>G
c.737C>G (p.Thr246Ser)
c.827C>G (p.Thr276Ser)
c.*742C>G (n.*742C>G)
c.*358C>G (n.*358C>G)
c.761C>G (p.Thr254Ser)
c.698C>G (p.Thr233Ser)
c.767C>G (p.Thr256Ser)
1g.6474074G=CA1151505864PLEKHG5c.530C= (p.Thr177=)
c.704C= (p.Thr235=)
c.641C= (p.Thr214=)
n.1006C=
c.737C= (p.Thr246=)
c.827C= (p.Thr276=)
c.*742C= (n.*742C=)
c.*358C= (n.*358C=)
c.761C= (p.Thr254=)
c.698C= (p.Thr233=)
c.767C= (p.Thr256=)
1g.6474074G>TCA338138617PLEKHG5c.530C>A (p.Thr177Asn)
c.704C>A (p.Thr235Asn)
c.641C>A (p.Thr214Asn)
n.1006C>A
c.737C>A (p.Thr246Asn)
c.827C>A (p.Thr276Asn)
c.*742C>A (n.*742C>A)
c.*358C>A (n.*358C>A)
c.761C>A (p.Thr254Asn)
c.698C>A (p.Thr233Asn)
c.767C>A (p.Thr256Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.6474075T>ACA338138623PLEKHG5c.529A>T (p.Thr177Ser)
c.703A>T (p.Thr235Ser)
c.640A>T (p.Thr214Ser)
n.1005A>T
c.736A>T (p.Thr246Ser)
c.826A>T (p.Thr276Ser)
c.*741A>T (n.*741A>T)
c.*357A>T (n.*357A>T)
c.760A>T (p.Thr254Ser)
c.697A>T (p.Thr233Ser)
c.766A>T (p.Thr256Ser)
1g.6474075T>CCA338138621PLEKHG5c.529A>G (p.Thr177Ala)
c.703A>G (p.Thr235Ala)
c.640A>G (p.Thr214Ala)
n.1005A>G
c.736A>G (p.Thr246Ala)
c.826A>G (p.Thr276Ala)
c.*741A>G (n.*741A>G)
c.*357A>G (n.*357A>G)
c.760A>G (p.Thr254Ala)
c.697A>G (p.Thr233Ala)
c.766A>G (p.Thr256Ala)
1g.6474075T>GCA338138620PLEKHG5c.529A>C (p.Thr177Pro)
c.703A>C (p.Thr235Pro)
c.640A>C (p.Thr214Pro)
n.1005A>C
c.736A>C (p.Thr246Pro)
c.826A>C (p.Thr276Pro)
c.*741A>C (n.*741A>C)
c.*357A>C (n.*357A>C)
c.760A>C (p.Thr254Pro)
c.697A>C (p.Thr233Pro)
c.766A>C (p.Thr256Pro)
1g.6474076C>ACA415833938PLEKHG5c.528G>T (p.Gly176=)
c.702G>T (p.Gly234=)
c.639G>T (p.Gly213=)
n.1004G>T
c.735G>T (p.Gly245=)
c.825G>T (p.Gly275=)
c.*740G>T (n.*740G>T)
c.*356G>T (n.*356G>T)
c.759G>T (p.Gly253=)
c.696G>T (p.Gly232=)
c.765G>T (p.Gly255=)
 gnomAD v4
1g.6474076C=CA1151505866PLEKHG5c.528G= (p.Gly176=)
c.702G= (p.Gly234=)
c.639G= (p.Gly213=)
n.1004G=
c.735G= (p.Gly245=)
c.825G= (p.Gly275=)
c.*740G= (n.*740G=)
c.*356G= (n.*356G=)
c.759G= (p.Gly253=)
c.696G= (p.Gly232=)
c.765G= (p.Gly255=)
1g.6474076C>GCA415833939PLEKHG5c.528G>C (p.Gly176=)
c.702G>C (p.Gly234=)
c.639G>C (p.Gly213=)
n.1004G>C
c.735G>C (p.Gly245=)
c.825G>C (p.Gly275=)
c.*740G>C (n.*740G>C)
c.*356G>C (n.*356G>C)
c.759G>C (p.Gly253=)
c.696G>C (p.Gly232=)
c.765G>C (p.Gly255=)
1g.6474076C>TCA415833940PLEKHG5c.528G>A (p.Gly176=)
c.702G>A (p.Gly234=)
c.639G>A (p.Gly213=)
n.1004G>A
c.735G>A (p.Gly245=)
c.825G>A (p.Gly275=)
c.*740G>A (n.*740G>A)
c.*356G>A (n.*356G>A)
c.759G>A (p.Gly253=)
c.696G>A (p.Gly232=)
c.765G>A (p.Gly255=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.6474077C>ACA338138624PLEKHG5c.527G>T (p.Gly176Val)
c.701G>T (p.Gly234Val)
c.638G>T (p.Gly213Val)
n.1003G>T
c.734G>T (p.Gly245Val)
c.824G>T (p.Gly275Val)
c.*739G>T (n.*739G>T)
c.*355G>T (n.*355G>T)
c.758G>T (p.Gly253Val)
c.695G>T (p.Gly232Val)
c.764G>T (p.Gly255Val)
 gnomAD v4
1g.6474077C=CA1144534035PLEKHG5c.527G= (p.Gly176=)
c.701G= (p.Gly234=)
c.638G= (p.Gly213=)
n.1003G=
c.734G= (p.Gly245=)
c.824G= (p.Gly275=)
c.*739G= (n.*739G=)
c.*355G= (n.*355G=)
c.758G= (p.Gly253=)
c.695G= (p.Gly232=)
c.764G= (p.Gly255=)
1g.6474077C>GCA561823PLEKHG5c.527G>C (p.Gly176Ala)
c.701G>C (p.Gly234Ala)
c.638G>C (p.Gly213Ala)
n.1003G>C
c.734G>C (p.Gly245Ala)
c.824G>C (p.Gly275Ala)
c.*739G>C (n.*739G>C)
c.*355G>C (n.*355G>C)
c.758G>C (p.Gly253Ala)
c.695G>C (p.Gly232Ala)
c.764G>C (p.Gly255Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474077C>TCA338138627PLEKHG5c.527G>A (p.Gly176Glu)
c.701G>A (p.Gly234Glu)
c.638G>A (p.Gly213Glu)
n.1003G>A
c.734G>A (p.Gly245Glu)
c.824G>A (p.Gly275Glu)
c.*739G>A (n.*739G>A)
c.*355G>A (n.*355G>A)
c.758G>A (p.Gly253Glu)
c.695G>A (p.Gly232Glu)
c.764G>A (p.Gly255Glu)
1g.6474078C>ACA338138629PLEKHG5c.526G>T (p.Gly176Trp)
c.700G>T (p.Gly234Trp)
c.637G>T (p.Gly213Trp)
n.1002G>T
c.733G>T (p.Gly245Trp)
c.823G>T (p.Gly275Trp)
c.*738G>T (n.*738G>T)
c.*354G>T (n.*354G>T)
c.757G>T (p.Gly253Trp)
c.694G>T (p.Gly232Trp)
c.763G>T (p.Gly255Trp)
1g.6474078C=CA1149116479PLEKHG5c.526G= (p.Gly176=)
c.700G= (p.Gly234=)
c.637G= (p.Gly213=)
n.1002G=
c.733G= (p.Gly245=)
c.823G= (p.Gly275=)
c.*738G= (n.*738G=)
c.*354G= (n.*354G=)
c.757G= (p.Gly253=)
c.694G= (p.Gly232=)
c.763G= (p.Gly255=)
1g.6474078C>GCA338138631PLEKHG5c.526G>C (p.Gly176Arg)
c.700G>C (p.Gly234Arg)
c.637G>C (p.Gly213Arg)
n.1002G>C
c.733G>C (p.Gly245Arg)
c.823G>C (p.Gly275Arg)
c.*738G>C (n.*738G>C)
c.*354G>C (n.*354G>C)
c.757G>C (p.Gly253Arg)
c.694G>C (p.Gly232Arg)
c.763G>C (p.Gly255Arg)
1g.6474078C>TCA561824PLEKHG5c.526G>A (p.Gly176Arg)
c.700G>A (p.Gly234Arg)
c.637G>A (p.Gly213Arg)
n.1002G>A
c.733G>A (p.Gly245Arg)
c.823G>A (p.Gly275Arg)
c.*738G>A (n.*738G>A)
c.*354G>A (n.*354G>A)
c.757G>A (p.Gly253Arg)
c.694G>A (p.Gly232Arg)
c.763G>A (p.Gly255Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.6474079A>CCA415833941PLEKHG5c.525T>G (p.Ala175=)
c.699T>G (p.Ala233=)
c.636T>G (p.Ala212=)
n.1001T>G
c.732T>G (p.Ala244=)
c.822T>G (p.Ala274=)
c.*737T>G (n.*737T>G)
c.*353T>G (n.*353T>G)
c.756T>G (p.Ala252=)
c.693T>G (p.Ala231=)
c.762T>G (p.Ala254=)
 ClinVar
1g.6474079A>GCA415833942PLEKHG5c.525T>C (p.Ala175=)
c.699T>C (p.Ala233=)
c.636T>C (p.Ala212=)
n.1001T>C
c.732T>C (p.Ala244=)
c.822T>C (p.Ala274=)
c.*737T>C (n.*737T>C)
c.*353T>C (n.*353T>C)
c.756T>C (p.Ala252=)
c.693T>C (p.Ala231=)
c.762T>C (p.Ala254=)
1g.6474079A>TCA415833943PLEKHG5c.525T>A (p.Ala175=)
c.699T>A (p.Ala233=)
c.636T>A (p.Ala212=)
n.1001T>A
c.732T>A (p.Ala244=)
c.822T>A (p.Ala274=)
c.*737T>A (n.*737T>A)
c.*353T>A (n.*353T>A)
c.756T>A (p.Ala252=)
c.693T>A (p.Ala231=)
c.762T>A (p.Ala254=)
1g.6474080G>ACA338138634PLEKHG5c.524C>T (p.Ala175Val)
c.698C>T (p.Ala233Val)
c.635C>T (p.Ala212Val)
n.1000C>T
c.731C>T (p.Ala244Val)
c.821C>T (p.Ala274Val)
c.*736C>T (n.*736C>T)
c.*352C>T (n.*352C>T)
c.755C>T (p.Ala252Val)
c.692C>T (p.Ala231Val)
c.761C>T (p.Ala254Val)
1g.6474080G>CCA338138639PLEKHG5c.524C>G (p.Ala175Gly)
c.698C>G (p.Ala233Gly)
c.635C>G (p.Ala212Gly)
n.1000C>G
c.731C>G (p.Ala244Gly)
c.821C>G (p.Ala274Gly)
c.*736C>G (n.*736C>G)
c.*352C>G (n.*352C>G)
c.755C>G (p.Ala252Gly)
c.692C>G (p.Ala231Gly)
c.761C>G (p.Ala254Gly)
 dbSNP
1g.6474080G=CA1151505881PLEKHG5c.524C= (p.Ala175=)
c.698C= (p.Ala233=)
c.635C= (p.Ala212=)
n.1000C=
c.731C= (p.Ala244=)
c.821C= (p.Ala274=)
c.*736C= (n.*736C=)
c.*352C= (n.*352C=)
c.755C= (p.Ala252=)
c.692C= (p.Ala231=)
c.761C= (p.Ala254=)
1g.6474080G>TCA338138637PLEKHG5c.524C>A (p.Ala175Asp)
c.698C>A (p.Ala233Asp)
c.635C>A (p.Ala212Asp)
n.1000C>A
c.731C>A (p.Ala244Asp)
c.821C>A (p.Ala274Asp)
c.*736C>A (n.*736C>A)
c.*352C>A (n.*352C>A)
c.755C>A (p.Ala252Asp)
c.692C>A (p.Ala231Asp)
c.761C>A (p.Ala254Asp)
 gnomAD v4
1g.6474081C>ACA338138640PLEKHG5c.523G>T (p.Ala175Ser)
c.697G>T (p.Ala233Ser)
c.634G>T (p.Ala212Ser)
n.999G>T
c.730G>T (p.Ala244Ser)
c.820G>T (p.Ala274Ser)
c.*735G>T (n.*735G>T)
c.*351G>T (n.*351G>T)
c.754G>T (p.Ala252Ser)
c.691G>T (p.Ala231Ser)
c.760G>T (p.Ala254Ser)
1g.6474081C>GCA338138641PLEKHG5c.523G>C (p.Ala175Pro)
c.697G>C (p.Ala233Pro)
c.634G>C (p.Ala212Pro)
n.999G>C
c.730G>C (p.Ala244Pro)
c.820G>C (p.Ala274Pro)
c.*735G>C (n.*735G>C)
c.*351G>C (n.*351G>C)
c.754G>C (p.Ala252Pro)
c.691G>C (p.Ala231Pro)
c.760G>C (p.Ala254Pro)
1g.6474081C>TCA338138642PLEKHG5c.523G>A (p.Ala175Thr)
c.697G>A (p.Ala233Thr)
c.634G>A (p.Ala212Thr)
n.999G>A
c.730G>A (p.Ala244Thr)
c.820G>A (p.Ala274Thr)
c.*735G>A (n.*735G>A)
c.*351G>A (n.*351G>A)
c.754G>A (p.Ala252Thr)
c.691G>A (p.Ala231Thr)
c.760G>A (p.Ala254Thr)
1g.6474082T>ACA415833944PLEKHG5c.522A>T (p.Pro174=)
c.696A>T (p.Pro232=)
c.633A>T (p.Pro211=)
n.998A>T
c.729A>T (p.Pro243=)
c.819A>T (p.Pro273=)
c.*734A>T (n.*734A>T)
c.*350A>T (n.*350A>T)
c.753A>T (p.Pro251=)
c.690A>T (p.Pro230=)
c.759A>T (p.Pro253=)
1g.6474082T>CCA415833946PLEKHG5c.522A>G (p.Pro174=)
c.696A>G (p.Pro232=)
c.633A>G (p.Pro211=)
n.998A>G
c.729A>G (p.Pro243=)
c.819A>G (p.Pro273=)
c.*734A>G (n.*734A>G)
c.*350A>G (n.*350A>G)
c.753A>G (p.Pro251=)
c.690A>G (p.Pro230=)
c.759A>G (p.Pro253=)
1g.6474082T>GCA415833945PLEKHG5c.522A>C (p.Pro174=)
c.696A>C (p.Pro232=)
c.633A>C (p.Pro211=)
n.998A>C
c.729A>C (p.Pro243=)
c.819A>C (p.Pro273=)
c.*734A>C (n.*734A>C)
c.*350A>C (n.*350A>C)
c.753A>C (p.Pro251=)
c.690A>C (p.Pro230=)
c.759A>C (p.Pro253=)
1g.6474083G>ACA338138645PLEKHG5c.521C>T (p.Pro174Leu)
c.695C>T (p.Pro232Leu)
c.632C>T (p.Pro211Leu)
n.997C>T
c.728C>T (p.Pro243Leu)
c.818C>T (p.Pro273Leu)
c.*733C>T (n.*733C>T)
c.*349C>T (n.*349C>T)
c.752C>T (p.Pro251Leu)
c.689C>T (p.Pro230Leu)
c.758C>T (p.Pro253Leu)
 ClinVar dbSNP gnomAD v4 COSMIC
1g.6474083G>CCA338138646PLEKHG5c.521C>G (p.Pro174Arg)
c.695C>G (p.Pro232Arg)
c.632C>G (p.Pro211Arg)
n.997C>G
c.728C>G (p.Pro243Arg)
c.818C>G (p.Pro273Arg)
c.*733C>G (n.*733C>G)
c.*349C>G (n.*349C>G)
c.752C>G (p.Pro251Arg)
c.689C>G (p.Pro230Arg)
c.758C>G (p.Pro253Arg)
1g.6474083G=CA1151505885PLEKHG5c.521C= (p.Pro174=)
c.695C= (p.Pro232=)
c.632C= (p.Pro211=)
n.997C=
c.728C= (p.Pro243=)
c.818C= (p.Pro273=)
c.*733C= (n.*733C=)
c.*349C= (n.*349C=)
c.752C= (p.Pro251=)
c.689C= (p.Pro230=)
c.758C= (p.Pro253=)
1g.6474083G>TCA338138647PLEKHG5c.521C>A (p.Pro174Gln)
c.695C>A (p.Pro232Gln)
c.632C>A (p.Pro211Gln)
n.997C>A
c.728C>A (p.Pro243Gln)
c.818C>A (p.Pro273Gln)
c.*733C>A (n.*733C>A)
c.*349C>A (n.*349C>A)
c.752C>A (p.Pro251Gln)
c.689C>A (p.Pro230Gln)
c.758C>A (p.Pro253Gln)
1g.6474084G>ACA338138650PLEKHG5c.520C>T (p.Pro174Ser)
c.694C>T (p.Pro232Ser)
c.631C>T (p.Pro211Ser)
n.996C>T
c.727C>T (p.Pro243Ser)
c.817C>T (p.Pro273Ser)
c.*732C>T (n.*732C>T)
c.*348C>T (n.*348C>T)
c.751C>T (p.Pro251Ser)
c.688C>T (p.Pro230Ser)
c.757C>T (p.Pro253Ser)
 gnomAD v4
1g.6474084G>CCA338138652PLEKHG5c.520C>G (p.Pro174Ala)
c.694C>G (p.Pro232Ala)
c.631C>G (p.Pro211Ala)
n.996C>G
c.727C>G (p.Pro243Ala)
c.817C>G (p.Pro273Ala)
c.*732C>G (n.*732C>G)
c.*348C>G (n.*348C>G)
c.751C>G (p.Pro251Ala)
c.688C>G (p.Pro230Ala)
c.757C>G (p.Pro253Ala)
1g.6474084G>TCA338138654PLEKHG5c.520C>A (p.Pro174Thr)
c.694C>A (p.Pro232Thr)
c.631C>A (p.Pro211Thr)
n.996C>A
c.727C>A (p.Pro243Thr)
c.817C>A (p.Pro273Thr)
c.*732C>A (n.*732C>A)
c.*348C>A (n.*348C>A)
c.751C>A (p.Pro251Thr)
c.688C>A (p.Pro230Thr)
c.757C>A (p.Pro253Thr)
1g.6474085C>ACA415833947PLEKHG5c.519G>T (p.Arg173=)
c.693G>T (p.Arg231=)
c.630G>T (p.Arg210=)
n.995G>T
c.726G>T (p.Arg242=)
c.816G>T (p.Arg272=)
c.*731G>T (n.*731G>T)
c.*347G>T (n.*347G>T)
c.750G>T (p.Arg250=)
c.687G>T (p.Arg229=)
c.756G>T (p.Arg252=)
1g.6474085C=CA1151505889PLEKHG5c.519G= (p.Arg173=)
c.693G= (p.Arg231=)
c.630G= (p.Arg210=)
n.995G=
c.726G= (p.Arg242=)
c.816G= (p.Arg272=)
c.*731G= (n.*731G=)
c.*347G= (n.*347G=)
c.750G= (p.Arg250=)
c.687G= (p.Arg229=)
c.756G= (p.Arg252=)
1g.6474085C>GCA415833948PLEKHG5c.519G>C (p.Arg173=)
c.693G>C (p.Arg231=)
c.630G>C (p.Arg210=)
n.995G>C
c.726G>C (p.Arg242=)
c.816G>C (p.Arg272=)
c.*731G>C (n.*731G>C)
c.*347G>C (n.*347G>C)
c.750G>C (p.Arg250=)
c.687G>C (p.Arg229=)
c.756G>C (p.Arg252=)
1g.6474085C>TCA415833949PLEKHG5c.519G>A (p.Arg173=)
c.693G>A (p.Arg231=)
c.630G>A (p.Arg210=)
n.995G>A
c.726G>A (p.Arg242=)
c.816G>A (p.Arg272=)
c.*731G>A (n.*731G>A)
c.*347G>A (n.*347G>A)
c.750G>A (p.Arg250=)
c.687G>A (p.Arg229=)
c.756G>A (p.Arg252=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.6474086C>ACA338138656PLEKHG5c.518G>T (p.Arg173Leu)
c.692G>T (p.Arg231Leu)
c.629G>T (p.Arg210Leu)
n.994G>T
c.725G>T (p.Arg242Leu)
c.815G>T (p.Arg272Leu)
c.*730G>T (n.*730G>T)
c.*346G>T (n.*346G>T)
c.749G>T (p.Arg250Leu)
c.686G>T (p.Arg229Leu)
c.755G>T (p.Arg252Leu)
1g.6474086C=CA1141863412PLEKHG5c.518G= (p.Arg173=)
c.692G= (p.Arg231=)
c.629G= (p.Arg210=)
n.994G=
c.725G= (p.Arg242=)
c.815G= (p.Arg272=)
c.*730G= (n.*730G=)
c.*346G= (n.*346G=)
c.749G= (p.Arg250=)
c.686G= (p.Arg229=)
c.755G= (p.Arg252=)
1g.6474086C>GCA338138658PLEKHG5c.518G>C (p.Arg173Pro)
c.692G>C (p.Arg231Pro)
c.629G>C (p.Arg210Pro)
n.994G>C
c.725G>C (p.Arg242Pro)
c.815G>C (p.Arg272Pro)
c.*730G>C (n.*730G>C)
c.*346G>C (n.*346G>C)
c.749G>C (p.Arg250Pro)
c.686G>C (p.Arg229Pro)
c.755G>C (p.Arg252Pro)
1g.6474086C>TCA247314PLEKHG5c.518G>A (p.Arg173Gln)
c.692G>A (p.Arg231Gln)
c.629G>A (p.Arg210Gln)
n.994G>A
c.725G>A (p.Arg242Gln)
c.815G>A (p.Arg272Gln)
c.*730G>A (n.*730G>A)
c.*346G>A (n.*346G>A)
c.749G>A (p.Arg250Gln)
c.686G>A (p.Arg229Gln)
c.755G>A (p.Arg252Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474087G>ACA561825PLEKHG5c.517C>T (p.Arg173Trp)
c.691C>T (p.Arg231Trp)
c.628C>T (p.Arg210Trp)
n.993C>T
c.724C>T (p.Arg242Trp)
c.814C>T (p.Arg272Trp)
c.*729C>T (n.*729C>T)
c.*345C>T (n.*345C>T)
c.748C>T (p.Arg250Trp)
c.685C>T (p.Arg229Trp)
c.754C>T (p.Arg252Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474087G>CCA338138660PLEKHG5c.517C>G (p.Arg173Gly)
c.691C>G (p.Arg231Gly)
c.628C>G (p.Arg210Gly)
n.993C>G
c.724C>G (p.Arg242Gly)
c.814C>G (p.Arg272Gly)
c.*729C>G (n.*729C>G)
c.*345C>G (n.*345C>G)
c.748C>G (p.Arg250Gly)
c.685C>G (p.Arg229Gly)
c.754C>G (p.Arg252Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.6474087G=CA1143872653PLEKHG5c.517C= (p.Arg173=)
c.691C= (p.Arg231=)
c.628C= (p.Arg210=)
n.993C=
c.724C= (p.Arg242=)
c.814C= (p.Arg272=)
c.*729C= (n.*729C=)
c.*345C= (n.*345C=)
c.748C= (p.Arg250=)
c.685C= (p.Arg229=)
c.754C= (p.Arg252=)
1g.6474087G>TCA415833950PLEKHG5c.517C>A (p.Arg173=)
c.691C>A (p.Arg231=)
c.628C>A (p.Arg210=)
n.993C>A
c.724C>A (p.Arg242=)
c.814C>A (p.Arg272=)
c.*729C>A (n.*729C>A)
c.*345C>A (n.*345C>A)
c.748C>A (p.Arg250=)
c.685C>A (p.Arg229=)
c.754C>A (p.Arg252=)
 gnomAD v4
1g.6474087_6474088delinsGCCA1151505909PLEKHG5c.516_517delinsGC (p.Leu172=)
c.690_691delinsGC (p.Leu230=)
c.627_628delinsGC (p.Leu209=)
n.992_993delinsGC
c.723_724delinsGC (p.Leu241=)
c.813_814delinsGC (p.Leu271=)
c.*728_*729delinsGC (n.*728_*729delinsGC)
c.*344_*345delinsGC (n.*344_*345delinsGC)
c.747_748delinsGC (p.Leu249=)
c.684_685delinsGC (p.Leu228=)
c.753_754delinsGC (p.Leu251=)
1g.6474088delCA521018915PLEKHG5c.516del (p.Arg173GlyfsTer?)
c.690del (p.Arg231GlyfsTer?)
c.627del (p.Arg210GlyfsTer?)
n.992del
c.723del (p.Arg242GlyfsTer?)
c.813del (p.Arg272GlyfsTer?)
c.*728del (n.*728del)
c.*344del (n.*344del)
c.747del (p.Arg250GlyfsTer?)
c.684del (p.Arg229GlyfsTer?)
c.753del (p.Arg252GlyfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.6474088C>ACA415833951PLEKHG5c.516G>T (p.Leu172=)
c.690G>T (p.Leu230=)
c.627G>T (p.Leu209=)
n.992G>T
c.723G>T (p.Leu241=)
c.813G>T (p.Leu271=)
c.*728G>T (n.*728G>T)
c.*344G>T (n.*344G>T)
c.747G>T (p.Leu249=)
c.684G>T (p.Leu228=)
c.753G>T (p.Leu251=)
 dbSNP gnomAD v2
1g.6474088C=CA1151505918PLEKHG5c.516G= (p.Leu172=)
c.690G= (p.Leu230=)
c.627G= (p.Leu209=)
n.992G=
c.723G= (p.Leu241=)
c.813G= (p.Leu271=)
c.*728G= (n.*728G=)
c.*344G= (n.*344G=)
c.747G= (p.Leu249=)
c.684G= (p.Leu228=)
c.753G= (p.Leu251=)
1g.6474088C>GCA415833952PLEKHG5c.516G>C (p.Leu172=)
c.690G>C (p.Leu230=)
c.627G>C (p.Leu209=)
n.992G>C
c.723G>C (p.Leu241=)
c.813G>C (p.Leu271=)
c.*728G>C (n.*728G>C)
c.*344G>C (n.*344G>C)
c.747G>C (p.Leu249=)
c.684G>C (p.Leu228=)
c.753G>C (p.Leu251=)
1g.6474088C>TCA415833953PLEKHG5c.516G>A (p.Leu172=)
c.690G>A (p.Leu230=)
c.627G>A (p.Leu209=)
n.992G>A
c.723G>A (p.Leu241=)
c.813G>A (p.Leu271=)
c.*728G>A (n.*728G>A)
c.*344G>A (n.*344G>A)
c.747G>A (p.Leu249=)
c.684G>A (p.Leu228=)
c.753G>A (p.Leu251=)
1g.6474089A=CA1151505923PLEKHG5c.515T= (p.Leu172=)
c.689T= (p.Leu230=)
c.626T= (p.Leu209=)
n.991T=
c.722T= (p.Leu241=)
c.812T= (p.Leu271=)
c.*727T= (n.*727T=)
c.*343T= (n.*343T=)
c.746T= (p.Leu249=)
c.683T= (p.Leu228=)
c.752T= (p.Leu251=)
1g.6474089A>CCA338138662PLEKHG5c.515T>G (p.Leu172Arg)
c.689T>G (p.Leu230Arg)
c.626T>G (p.Leu209Arg)
n.991T>G
c.722T>G (p.Leu241Arg)
c.812T>G (p.Leu271Arg)
c.*727T>G (n.*727T>G)
c.*343T>G (n.*343T>G)
c.746T>G (p.Leu249Arg)
c.683T>G (p.Leu228Arg)
c.752T>G (p.Leu251Arg)
1g.6474089A>GCA338138664PLEKHG5c.515T>C (p.Leu172Pro)
c.689T>C (p.Leu230Pro)
c.626T>C (p.Leu209Pro)
n.991T>C
c.722T>C (p.Leu241Pro)
c.812T>C (p.Leu271Pro)
c.*727T>C (n.*727T>C)
c.*343T>C (n.*343T>C)
c.746T>C (p.Leu249Pro)
c.683T>C (p.Leu228Pro)
c.752T>C (p.Leu251Pro)
1g.6474089A>TCA338138663PLEKHG5c.515T>A (p.Leu172Gln)
c.689T>A (p.Leu230Gln)
c.626T>A (p.Leu209Gln)
n.991T>A
c.722T>A (p.Leu241Gln)
c.812T>A (p.Leu271Gln)
c.*727T>A (n.*727T>A)
c.*343T>A (n.*343T>A)
c.746T>A (p.Leu249Gln)
c.683T>A (p.Leu228Gln)
c.752T>A (p.Leu251Gln)
 dbSNP gnomAD v2 gnomAD v4
1g.6474090G>ACA561826PLEKHG5c.514C>T (p.Leu172=)
c.688C>T (p.Leu230=)
c.625C>T (p.Leu209=)
n.990C>T
c.721C>T (p.Leu241=)
c.811C>T (p.Leu271=)
c.*726C>T (n.*726C>T)
c.*342C>T (n.*342C>T)
c.745C>T (p.Leu249=)
c.682C>T (p.Leu228=)
c.751C>T (p.Leu251=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
1g.6474090G>CCA338138667PLEKHG5c.514C>G (p.Leu172Val)
c.688C>G (p.Leu230Val)
c.625C>G (p.Leu209Val)
n.990C>G
c.721C>G (p.Leu241Val)
c.811C>G (p.Leu271Val)
c.*726C>G (n.*726C>G)
c.*342C>G (n.*342C>G)
c.745C>G (p.Leu249Val)
c.682C>G (p.Leu228Val)
c.751C>G (p.Leu251Val)
1g.6474090G=CA1148885430PLEKHG5c.514C= (p.Leu172=)
c.688C= (p.Leu230=)
c.625C= (p.Leu209=)
n.990C=
c.721C= (p.Leu241=)
c.811C= (p.Leu271=)
c.*726C= (n.*726C=)
c.*342C= (n.*342C=)
c.745C= (p.Leu249=)
c.682C= (p.Leu228=)
c.751C= (p.Leu251=)
1g.6474090G>TCA338138669PLEKHG5c.514C>A (p.Leu172Met)
c.688C>A (p.Leu230Met)
c.625C>A (p.Leu209Met)
n.990C>A
c.721C>A (p.Leu241Met)
c.811C>A (p.Leu271Met)
c.*726C>A (n.*726C>A)
c.*342C>A (n.*342C>A)
c.745C>A (p.Leu249Met)
c.682C>A (p.Leu228Met)
c.751C>A (p.Leu251Met)
1g.6474091A>CCA338138670PLEKHG5c.513T>G (p.Ile171Met)
c.687T>G (p.Ile229Met)
c.624T>G (p.Ile208Met)
n.989T>G
c.720T>G (p.Ile240Met)
c.810T>G (p.Ile270Met)
c.*725T>G (n.*725T>G)
c.*341T>G (n.*341T>G)
c.744T>G (p.Ile248Met)
c.681T>G (p.Ile227Met)
c.750T>G (p.Ile250Met)
1g.6474091A>GCA415833955PLEKHG5c.513T>C (p.Ile171=)
c.687T>C (p.Ile229=)
c.624T>C (p.Ile208=)
n.989T>C
c.720T>C (p.Ile240=)
c.810T>C (p.Ile270=)
c.*725T>C (n.*725T>C)
c.*341T>C (n.*341T>C)
c.744T>C (p.Ile248=)
c.681T>C (p.Ile227=)
c.750T>C (p.Ile250=)
1g.6474091A>TCA415833954PLEKHG5c.513T>A (p.Ile171=)
c.687T>A (p.Ile229=)
c.624T>A (p.Ile208=)
n.989T>A
c.720T>A (p.Ile240=)
c.810T>A (p.Ile270=)
c.*725T>A (n.*725T>A)
c.*341T>A (n.*341T>A)
c.744T>A (p.Ile248=)
c.681T>A (p.Ile227=)
c.750T>A (p.Ile250=)
1g.6474092A>CCA338138673PLEKHG5c.512T>G (p.Ile171Ser)
c.686T>G (p.Ile229Ser)
c.623T>G (p.Ile208Ser)
n.988T>G
c.719T>G (p.Ile240Ser)
c.809T>G (p.Ile270Ser)
c.*724T>G (n.*724T>G)
c.*340T>G (n.*340T>G)
c.743T>G (p.Ile248Ser)
c.680T>G (p.Ile227Ser)
c.749T>G (p.Ile250Ser)
1g.6474092A>GCA338138674PLEKHG5c.512T>C (p.Ile171Thr)
c.686T>C (p.Ile229Thr)
c.623T>C (p.Ile208Thr)
n.988T>C
c.719T>C (p.Ile240Thr)
c.809T>C (p.Ile270Thr)
c.*724T>C (n.*724T>C)
c.*340T>C (n.*340T>C)
c.743T>C (p.Ile248Thr)
c.680T>C (p.Ile227Thr)
c.749T>C (p.Ile250Thr)
1g.6474092A>TCA338138676PLEKHG5c.512T>A (p.Ile171Asn)
c.686T>A (p.Ile229Asn)
c.623T>A (p.Ile208Asn)
n.988T>A
c.719T>A (p.Ile240Asn)
c.809T>A (p.Ile270Asn)
c.*724T>A (n.*724T>A)
c.*340T>A (n.*340T>A)
c.743T>A (p.Ile248Asn)
c.680T>A (p.Ile227Asn)
c.749T>A (p.Ile250Asn)
1g.6474093T>ACA338138678PLEKHG5c.511A>T (p.Ile171Phe)
c.685A>T (p.Ile229Phe)
c.622A>T (p.Ile208Phe)
n.987A>T
c.718A>T (p.Ile240Phe)
c.808A>T (p.Ile270Phe)
c.*723A>T (n.*723A>T)
c.*339A>T (n.*339A>T)
c.742A>T (p.Ile248Phe)
c.679A>T (p.Ile227Phe)
c.748A>T (p.Ile250Phe)
1g.6474093T>CCA561827PLEKHG5c.511A>G (p.Ile171Val)
c.685A>G (p.Ile229Val)
c.622A>G (p.Ile208Val)
n.987A>G
c.718A>G (p.Ile240Val)
c.808A>G (p.Ile270Val)
c.*723A>G (n.*723A>G)
c.*339A>G (n.*339A>G)
c.742A>G (p.Ile248Val)
c.679A>G (p.Ile227Val)
c.748A>G (p.Ile250Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.6474093T>GCA338138680PLEKHG5c.511A>C (p.Ile171Leu)
c.685A>C (p.Ile229Leu)
c.622A>C (p.Ile208Leu)
n.987A>C
c.718A>C (p.Ile240Leu)
c.808A>C (p.Ile270Leu)
c.*723A>C (n.*723A>C)
c.*339A>C (n.*339A>C)
c.742A>C (p.Ile248Leu)
c.679A>C (p.Ile227Leu)
c.748A>C (p.Ile250Leu)
1g.6474093T=CA1151505926PLEKHG5c.511A= (p.Ile171=)
c.685A= (p.Ile229=)
c.622A= (p.Ile208=)
n.987A=
c.718A= (p.Ile240=)
c.808A= (p.Ile270=)
c.*723A= (n.*723A=)
c.*339A= (n.*339A=)
c.742A= (p.Ile248=)
c.679A= (p.Ile227=)
c.748A= (p.Ile250=)
1g.6474094C>ACA415833956PLEKHG5c.510G>T (p.Pro170=)
c.684G>T (p.Pro228=)
c.621G>T (p.Pro207=)
n.986G>T
c.717G>T (p.Pro239=)
c.807G>T (p.Pro269=)
c.*722G>T (n.*722G>T)
c.*338G>T (n.*338G>T)
c.741G>T (p.Pro247=)
c.678G>T (p.Pro226=)
c.747G>T (p.Pro249=)
1g.6474094C=CA1151505930PLEKHG5c.510G= (p.Pro170=)
c.684G= (p.Pro228=)
c.621G= (p.Pro207=)
n.986G=
c.717G= (p.Pro239=)
c.807G= (p.Pro269=)
c.*722G= (n.*722G=)
c.*338G= (n.*338G=)
c.741G= (p.Pro247=)
c.678G= (p.Pro226=)
c.747G= (p.Pro249=)
1g.6474094C>GCA415833957PLEKHG5c.510G>C (p.Pro170=)
c.684G>C (p.Pro228=)
c.621G>C (p.Pro207=)
n.986G>C
c.717G>C (p.Pro239=)
c.807G>C (p.Pro269=)
c.*722G>C (n.*722G>C)
c.*338G>C (n.*338G>C)
c.741G>C (p.Pro247=)
c.678G>C (p.Pro226=)
c.747G>C (p.Pro249=)
 ClinVar
1g.6474094C>TCA561828PLEKHG5c.510G>A (p.Pro170=)
c.684G>A (p.Pro228=)
c.621G>A (p.Pro207=)
n.986G>A
c.717G>A (p.Pro239=)
c.807G>A (p.Pro269=)
c.*722G>A (n.*722G>A)
c.*338G>A (n.*338G>A)
c.741G>A (p.Pro247=)
c.678G>A (p.Pro226=)
c.747G>A (p.Pro249=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474095G>ACA561829PLEKHG5c.509C>T (p.Pro170Leu)
c.683C>T (p.Pro228Leu)
c.620C>T (p.Pro207Leu)
n.985C>T
c.716C>T (p.Pro239Leu)
c.806C>T (p.Pro269Leu)
c.*721C>T (n.*721C>T)
c.*337C>T (n.*337C>T)
c.740C>T (p.Pro247Leu)
c.677C>T (p.Pro226Leu)
c.746C>T (p.Pro249Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474095G>CCA338138686PLEKHG5c.509C>G (p.Pro170Arg)
c.683C>G (p.Pro228Arg)
c.620C>G (p.Pro207Arg)
n.985C>G
c.716C>G (p.Pro239Arg)
c.806C>G (p.Pro269Arg)
c.*721C>G (n.*721C>G)
c.*337C>G (n.*337C>G)
c.740C>G (p.Pro247Arg)
c.677C>G (p.Pro226Arg)
c.746C>G (p.Pro249Arg)
1g.6474095G=CA1140682502PLEKHG5c.509C= (p.Pro170=)
c.683C= (p.Pro228=)
c.620C= (p.Pro207=)
n.985C=
c.716C= (p.Pro239=)
c.806C= (p.Pro269=)
c.*721C= (n.*721C=)
c.*337C= (n.*337C=)
c.740C= (p.Pro247=)
c.677C= (p.Pro226=)
c.746C= (p.Pro249=)
1g.6474095G>TCA338138684PLEKHG5c.509C>A (p.Pro170Gln)
c.683C>A (p.Pro228Gln)
c.620C>A (p.Pro207Gln)
n.985C>A
c.716C>A (p.Pro239Gln)
c.806C>A (p.Pro269Gln)
c.*721C>A (n.*721C>A)
c.*337C>A (n.*337C>A)
c.740C>A (p.Pro247Gln)
c.677C>A (p.Pro226Gln)
c.746C>A (p.Pro249Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.6474096G>ACA338138689PLEKHG5c.508C>T (p.Pro170Ser)
c.682C>T (p.Pro228Ser)
c.619C>T (p.Pro207Ser)
n.984C>T
c.715C>T (p.Pro239Ser)
c.805C>T (p.Pro269Ser)
c.*720C>T (n.*720C>T)
c.*336C>T (n.*336C>T)
c.739C>T (p.Pro247Ser)
c.676C>T (p.Pro226Ser)
c.745C>T (p.Pro249Ser)
1g.6474096G>CCA338138690PLEKHG5c.508C>G (p.Pro170Ala)
c.682C>G (p.Pro228Ala)
c.619C>G (p.Pro207Ala)
n.984C>G
c.715C>G (p.Pro239Ala)
c.805C>G (p.Pro269Ala)
c.*720C>G (n.*720C>G)
c.*336C>G (n.*336C>G)
c.739C>G (p.Pro247Ala)
c.676C>G (p.Pro226Ala)
c.745C>G (p.Pro249Ala)
1g.6474096G>TCA338138691PLEKHG5c.508C>A (p.Pro170Thr)
c.682C>A (p.Pro228Thr)
c.619C>A (p.Pro207Thr)
n.984C>A
c.715C>A (p.Pro239Thr)
c.805C>A (p.Pro269Thr)
c.*720C>A (n.*720C>A)
c.*336C>A (n.*336C>A)
c.739C>A (p.Pro247Thr)
c.676C>A (p.Pro226Thr)
c.745C>A (p.Pro249Thr)
1g.6474097C>ACA338138694PLEKHG5c.507G>T (p.Leu169Phe)
c.681G>T (p.Leu227Phe)
c.618G>T (p.Leu206Phe)
n.983G>T
c.714G>T (p.Leu238Phe)
c.804G>T (p.Leu268Phe)
c.*719G>T (n.*719G>T)
c.*335G>T (n.*335G>T)
c.738G>T (p.Leu246Phe)
c.675G>T (p.Leu225Phe)
c.744G>T (p.Leu248Phe)
1g.6474097C>GCA338138696PLEKHG5c.507G>C (p.Leu169Phe)
c.681G>C (p.Leu227Phe)
c.618G>C (p.Leu206Phe)
n.983G>C
c.714G>C (p.Leu238Phe)
c.804G>C (p.Leu268Phe)
c.*719G>C (n.*719G>C)
c.*335G>C (n.*335G>C)
c.738G>C (p.Leu246Phe)
c.675G>C (p.Leu225Phe)
c.744G>C (p.Leu248Phe)
1g.6474097C>TCA415833958PLEKHG5c.507G>A (p.Leu169=)
c.681G>A (p.Leu227=)
c.618G>A (p.Leu206=)
n.983G>A
c.714G>A (p.Leu238=)
c.804G>A (p.Leu268=)
c.*719G>A (n.*719G>A)
c.*335G>A (n.*335G>A)
c.738G>A (p.Leu246=)
c.675G>A (p.Leu225=)
c.744G>A (p.Leu248=)
1g.6474097_6474099delinsCAACA1151505947PLEKHG5c.505_507delinsTTG (p.Leu169=)
c.679_681delinsTTG (p.Leu227=)
c.616_618delinsTTG (p.Leu206=)
n.981_983delinsTTG
c.712_714delinsTTG (p.Leu238=)
c.802_804delinsTTG (p.Leu268=)
c.*717_*719delinsTTG (n.*717_*719delinsTTG)
c.*333_*335delinsTTG (n.*333_*335delinsTTG)
c.736_738delinsTTG (p.Leu246=)
c.673_675delinsTTG (p.Leu225=)
c.742_744delinsTTG (p.Leu248=)
1g.6474098A>CCA338138697PLEKHG5c.506T>G (p.Leu169Trp)
c.680T>G (p.Leu227Trp)
c.617T>G (p.Leu206Trp)
n.982T>G
c.713T>G (p.Leu238Trp)
c.803T>G (p.Leu268Trp)
c.*718T>G (n.*718T>G)
c.*334T>G (n.*334T>G)
c.737T>G (p.Leu246Trp)
c.674T>G (p.Leu225Trp)
c.743T>G (p.Leu248Trp)
1g.6474098A>GCA338138699PLEKHG5c.506T>C (p.Leu169Ser)
c.680T>C (p.Leu227Ser)
c.617T>C (p.Leu206Ser)
n.982T>C
c.713T>C (p.Leu238Ser)
c.803T>C (p.Leu268Ser)
c.*718T>C (n.*718T>C)
c.*334T>C (n.*334T>C)
c.737T>C (p.Leu246Ser)
c.674T>C (p.Leu225Ser)
c.743T>C (p.Leu248Ser)
1g.6474098A>TCA338138702PLEKHG5c.506T>A (p.Leu169Ter)
c.680T>A (p.Leu227Ter)
c.617T>A (p.Leu206Ter)
n.982T>A
c.713T>A (p.Leu238Ter)
c.803T>A (p.Leu268Ter)
c.*718T>A (n.*718T>A)
c.*334T>A (n.*334T>A)
c.737T>A (p.Leu246Ter)
c.674T>A (p.Leu225Ter)
c.743T>A (p.Leu248Ter)
1g.6474099_6474100delCA1151505952PLEKHG5c.505_506del (p.Leu169AlafsTer?)
c.679_680del (p.Leu227AlafsTer?)
c.616_617del (p.Leu206AlafsTer?)
n.981_982del
c.712_713del (p.Leu238AlafsTer?)
c.802_803del (p.Leu268AlafsTer?)
c.*717_*718del (n.*717_*718del)
c.*333_*334del (n.*333_*334del)
c.736_737del (p.Leu246AlafsTer?)
c.673_674del (p.Leu225AlafsTer?)
c.742_743del (p.Leu248AlafsTer?)
 dbSNP
1g.6474099A>CCA338138703PLEKHG5c.505T>G (p.Leu169Val)
c.679T>G (p.Leu227Val)
c.616T>G (p.Leu206Val)
n.981T>G
c.712T>G (p.Leu238Val)
c.802T>G (p.Leu268Val)
c.*717T>G (n.*717T>G)
c.*333T>G (n.*333T>G)
c.736T>G (p.Leu246Val)
c.673T>G (p.Leu225Val)
c.742T>G (p.Leu248Val)
1g.6474099A>GCA415833959PLEKHG5c.505T>C (p.Leu169=)
c.679T>C (p.Leu227=)
c.616T>C (p.Leu206=)
n.981T>C
c.712T>C (p.Leu238=)
c.802T>C (p.Leu268=)
c.*717T>C (n.*717T>C)
c.*333T>C (n.*333T>C)
c.736T>C (p.Leu246=)
c.673T>C (p.Leu225=)
c.742T>C (p.Leu248=)
1g.6474099A>TCA338138705PLEKHG5c.505T>A (p.Leu169Met)
c.679T>A (p.Leu227Met)
c.616T>A (p.Leu206Met)
n.981T>A
c.712T>A (p.Leu238Met)
c.802T>A (p.Leu268Met)
c.*717T>A (n.*717T>A)
c.*333T>A (n.*333T>A)
c.736T>A (p.Leu246Met)
c.673T>A (p.Leu225Met)
c.742T>A (p.Leu248Met)
1g.6474100A>CCA338138708PLEKHG5c.504T>G (p.Ser168Arg)
c.678T>G (p.Ser226Arg)
c.615T>G (p.Ser205Arg)
n.980T>G
c.711T>G (p.Ser237Arg)
c.801T>G (p.Ser267Arg)
c.*716T>G (n.*716T>G)
c.*332T>G (n.*332T>G)
c.735T>G (p.Ser245Arg)
c.672T>G (p.Ser224Arg)
c.741T>G (p.Ser247Arg)
1g.6474100A>GCA415833960PLEKHG5c.504T>C (p.Ser168=)
c.678T>C (p.Ser226=)
c.615T>C (p.Ser205=)
n.980T>C
c.711T>C (p.Ser237=)
c.801T>C (p.Ser267=)
c.*716T>C (n.*716T>C)
c.*332T>C (n.*332T>C)
c.735T>C (p.Ser245=)
c.672T>C (p.Ser224=)
c.741T>C (p.Ser247=)
1g.6474100A>TCA338138709PLEKHG5c.504T>A (p.Ser168Arg)
c.678T>A (p.Ser226Arg)
c.615T>A (p.Ser205Arg)
n.980T>A
c.711T>A (p.Ser237Arg)
c.801T>A (p.Ser267Arg)
c.*716T>A (n.*716T>A)
c.*332T>A (n.*332T>A)
c.735T>A (p.Ser245Arg)
c.672T>A (p.Ser224Arg)
c.741T>A (p.Ser247Arg)
1g.6474101C>ACA338138710PLEKHG5c.503G>T (p.Ser168Ile)
c.677G>T (p.Ser226Ile)
c.614G>T (p.Ser205Ile)
n.979G>T
c.710G>T (p.Ser237Ile)
c.800G>T (p.Ser267Ile)
c.*715G>T (n.*715G>T)
c.*331G>T (n.*331G>T)
c.734G>T (p.Ser245Ile)
c.671G>T (p.Ser224Ile)
c.740G>T (p.Ser247Ile)
 dbSNP gnomAD v3 gnomAD v4
1g.6474101C=CA1151505954PLEKHG5c.503G= (p.Ser168=)
c.677G= (p.Ser226=)
c.614G= (p.Ser205=)
n.979G=
c.710G= (p.Ser237=)
c.800G= (p.Ser267=)
c.*715G= (n.*715G=)
c.*331G= (n.*331G=)
c.734G= (p.Ser245=)
c.671G= (p.Ser224=)
c.740G= (p.Ser247=)
1g.6474101C>GCA338138714PLEKHG5c.503G>C (p.Ser168Thr)
c.677G>C (p.Ser226Thr)
c.614G>C (p.Ser205Thr)
n.979G>C
c.710G>C (p.Ser237Thr)
c.800G>C (p.Ser267Thr)
c.*715G>C (n.*715G>C)
c.*331G>C (n.*331G>C)
c.734G>C (p.Ser245Thr)
c.671G>C (p.Ser224Thr)
c.740G>C (p.Ser247Thr)
 ClinVar dbSNP
1g.6474101C>TCA338138712PLEKHG5c.503G>A (p.Ser168Asn)
c.677G>A (p.Ser226Asn)
c.614G>A (p.Ser205Asn)
n.979G>A
c.710G>A (p.Ser237Asn)
c.800G>A (p.Ser267Asn)
c.*715G>A (n.*715G>A)
c.*331G>A (n.*331G>A)
c.734G>A (p.Ser245Asn)
c.671G>A (p.Ser224Asn)
c.740G>A (p.Ser247Asn)
 dbSNP gnomAD v3 gnomAD v4
1g.6474102T>ACA338138716PLEKHG5c.502A>T (p.Ser168Cys)
c.676A>T (p.Ser226Cys)
c.613A>T (p.Ser205Cys)
n.978A>T
c.709A>T (p.Ser237Cys)
c.799A>T (p.Ser267Cys)
c.*714A>T (n.*714A>T)
c.*330A>T (n.*330A>T)
c.733A>T (p.Ser245Cys)
c.670A>T (p.Ser224Cys)
c.739A>T (p.Ser247Cys)
1g.6474102T>CCA561830PLEKHG5c.502A>G (p.Ser168Gly)
c.676A>G (p.Ser226Gly)
c.613A>G (p.Ser205Gly)
n.978A>G
c.709A>G (p.Ser237Gly)
c.799A>G (p.Ser267Gly)
c.*714A>G (n.*714A>G)
c.*330A>G (n.*330A>G)
c.733A>G (p.Ser245Gly)
c.670A>G (p.Ser224Gly)
c.739A>G (p.Ser247Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.6474102T>GCA338138717PLEKHG5c.502A>C (p.Ser168Arg)
c.676A>C (p.Ser226Arg)
c.613A>C (p.Ser205Arg)
n.978A>C
c.709A>C (p.Ser237Arg)
c.799A>C (p.Ser267Arg)
c.*714A>C (n.*714A>C)
c.*330A>C (n.*330A>C)
c.733A>C (p.Ser245Arg)
c.670A>C (p.Ser224Arg)
c.739A>C (p.Ser247Arg)
1g.6474102T=CA1151505961PLEKHG5c.502A= (p.Ser168=)
c.676A= (p.Ser226=)
c.613A= (p.Ser205=)
n.978A=
c.709A= (p.Ser237=)
c.799A= (p.Ser267=)
c.*714A= (n.*714A=)
c.*330A= (n.*330A=)
c.733A= (p.Ser245=)
c.670A= (p.Ser224=)
c.739A= (p.Ser247=)
1g.6474103C>ACA415833961PLEKHG5c.501G>T (p.Leu167=)
c.675G>T (p.Leu225=)
c.612G>T (p.Leu204=)
n.977G>T
c.708G>T (p.Leu236=)
c.798G>T (p.Leu266=)
c.*713G>T (n.*713G>T)
c.*329G>T (n.*329G>T)
c.732G>T (p.Leu244=)
c.669G>T (p.Leu223=)
c.738G>T (p.Leu246=)
1g.6474103C>GCA415833962PLEKHG5c.501G>C (p.Leu167=)
c.675G>C (p.Leu225=)
c.612G>C (p.Leu204=)
n.977G>C
c.708G>C (p.Leu236=)
c.798G>C (p.Leu266=)
c.*713G>C (n.*713G>C)
c.*329G>C (n.*329G>C)
c.732G>C (p.Leu244=)
c.669G>C (p.Leu223=)
c.738G>C (p.Leu246=)
1g.6474103C>TCA415833963PLEKHG5c.501G>A (p.Leu167=)
c.675G>A (p.Leu225=)
c.612G>A (p.Leu204=)
n.977G>A
c.708G>A (p.Leu236=)
c.798G>A (p.Leu266=)
c.*713G>A (n.*713G>A)
c.*329G>A (n.*329G>A)
c.732G>A (p.Leu244=)
c.669G>A (p.Leu223=)
c.738G>A (p.Leu246=)
 gnomAD v4
1g.6474104A>CCA338138720PLEKHG5c.500T>G (p.Leu167Arg)
c.674T>G (p.Leu225Arg)
c.611T>G (p.Leu204Arg)
n.976T>G
c.707T>G (p.Leu236Arg)
c.797T>G (p.Leu266Arg)
c.*712T>G (n.*712T>G)
c.*328T>G (n.*328T>G)
c.731T>G (p.Leu244Arg)
c.668T>G (p.Leu223Arg)
c.737T>G (p.Leu246Arg)
1g.6474104A>GCA338138722PLEKHG5c.500T>C (p.Leu167Pro)
c.674T>C (p.Leu225Pro)
c.611T>C (p.Leu204Pro)
n.976T>C
c.707T>C (p.Leu236Pro)
c.797T>C (p.Leu266Pro)
c.*712T>C (n.*712T>C)
c.*328T>C (n.*328T>C)
c.731T>C (p.Leu244Pro)
c.668T>C (p.Leu223Pro)
c.737T>C (p.Leu246Pro)
1g.6474104A>TCA338138724PLEKHG5c.500T>A (p.Leu167Gln)
c.674T>A (p.Leu225Gln)
c.611T>A (p.Leu204Gln)
n.976T>A
c.707T>A (p.Leu236Gln)
c.797T>A (p.Leu266Gln)
c.*712T>A (n.*712T>A)
c.*328T>A (n.*328T>A)
c.731T>A (p.Leu244Gln)
c.668T>A (p.Leu223Gln)
c.737T>A (p.Leu246Gln)
1g.6474105G>ACA415833964PLEKHG5c.499C>T (p.Leu167=)
c.673C>T (p.Leu225=)
c.610C>T (p.Leu204=)
n.975C>T
c.706C>T (p.Leu236=)
c.796C>T (p.Leu266=)
c.*711C>T (n.*711C>T)
c.*327C>T (n.*327C>T)
c.730C>T (p.Leu244=)
c.667C>T (p.Leu223=)
c.736C>T (p.Leu246=)
 gnomAD v4 COSMIC COSMIC COSMIC
1g.6474105G>CCA338138726PLEKHG5c.499C>G (p.Leu167Val)
c.673C>G (p.Leu225Val)
c.610C>G (p.Leu204Val)
n.975C>G
c.706C>G (p.Leu236Val)
c.796C>G (p.Leu266Val)
c.*711C>G (n.*711C>G)
c.*327C>G (n.*327C>G)
c.730C>G (p.Leu244Val)
c.667C>G (p.Leu223Val)
c.736C>G (p.Leu246Val)
1g.6474105G>TCA338138728PLEKHG5c.499C>A (p.Leu167Met)
c.673C>A (p.Leu225Met)
c.610C>A (p.Leu204Met)
n.975C>A
c.706C>A (p.Leu236Met)
c.796C>A (p.Leu266Met)
c.*711C>A (n.*711C>A)
c.*327C>A (n.*327C>A)
c.730C>A (p.Leu244Met)
c.667C>A (p.Leu223Met)
c.736C>A (p.Leu246Met)
1g.6474106G>ACA415833966PLEKHG5c.498C>T (p.Ser166=)
c.672C>T (p.Ser224=)
c.609C>T (p.Ser203=)
n.974C>T
c.705C>T (p.Ser235=)
c.795C>T (p.Ser265=)
c.*710C>T (n.*710C>T)
c.*326C>T (n.*326C>T)
c.729C>T (p.Ser243=)
c.666C>T (p.Ser222=)
c.735C>T (p.Ser245=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
1g.6474106G>CCA415833967PLEKHG5c.498C>G (p.Ser166=)
c.672C>G (p.Ser224=)
c.609C>G (p.Ser203=)
n.974C>G
c.705C>G (p.Ser235=)
c.795C>G (p.Ser265=)
c.*710C>G (n.*710C>G)
c.*326C>G (n.*326C>G)
c.729C>G (p.Ser243=)
c.666C>G (p.Ser222=)
c.735C>G (p.Ser245=)
1g.6474106G=CA1151505970PLEKHG5c.498C= (p.Ser166=)
c.672C= (p.Ser224=)
c.609C= (p.Ser203=)
n.974C=
c.705C= (p.Ser235=)
c.795C= (p.Ser265=)
c.*710C= (n.*710C=)
c.*326C= (n.*326C=)
c.729C= (p.Ser243=)
c.666C= (p.Ser222=)
c.735C= (p.Ser245=)
1g.6474106G>TCA415833968PLEKHG5c.498C>A (p.Ser166=)
c.672C>A (p.Ser224=)
c.609C>A (p.Ser203=)
n.974C>A
c.705C>A (p.Ser235=)
c.795C>A (p.Ser265=)
c.*710C>A (n.*710C>A)
c.*326C>A (n.*326C>A)
c.729C>A (p.Ser243=)
c.666C>A (p.Ser222=)
c.735C>A (p.Ser245=)
1g.6474107G>ACA338138730PLEKHG5c.497C>T (p.Ser166Phe)
c.671C>T (p.Ser224Phe)
c.608C>T (p.Ser203Phe)
n.973C>T
c.704C>T (p.Ser235Phe)
c.794C>T (p.Ser265Phe)
c.*709C>T (n.*709C>T)
c.*325C>T (n.*325C>T)
c.728C>T (p.Ser243Phe)
c.665C>T (p.Ser222Phe)
c.734C>T (p.Ser245Phe)
1g.6474107G>CCA338138732PLEKHG5c.497C>G (p.Ser166Cys)
c.671C>G (p.Ser224Cys)
c.608C>G (p.Ser203Cys)
n.973C>G
c.704C>G (p.Ser235Cys)
c.794C>G (p.Ser265Cys)
c.*709C>G (n.*709C>G)
c.*325C>G (n.*325C>G)
c.728C>G (p.Ser243Cys)
c.665C>G (p.Ser222Cys)
c.734C>G (p.Ser245Cys)
1g.6474107G>TCA338138733PLEKHG5c.497C>A (p.Ser166Tyr)
c.671C>A (p.Ser224Tyr)
c.608C>A (p.Ser203Tyr)
n.973C>A
c.704C>A (p.Ser235Tyr)
c.794C>A (p.Ser265Tyr)
c.*709C>A (n.*709C>A)
c.*325C>A (n.*325C>A)
c.728C>A (p.Ser243Tyr)
c.665C>A (p.Ser222Tyr)
c.734C>A (p.Ser245Tyr)
 COSMIC COSMIC COSMIC
1g.6474108A>CCA338138736PLEKHG5c.496T>G (p.Ser166Ala)
c.670T>G (p.Ser224Ala)
c.607T>G (p.Ser203Ala)
n.972T>G
c.703T>G (p.Ser235Ala)
c.793T>G (p.Ser265Ala)
c.*708T>G (n.*708T>G)
c.*324T>G (n.*324T>G)
c.727T>G (p.Ser243Ala)
c.664T>G (p.Ser222Ala)
c.733T>G (p.Ser245Ala)
1g.6474108A>GCA338138737PLEKHG5c.496T>C (p.Ser166Pro)
c.670T>C (p.Ser224Pro)
c.607T>C (p.Ser203Pro)
n.972T>C
c.703T>C (p.Ser235Pro)
c.793T>C (p.Ser265Pro)
c.*708T>C (n.*708T>C)
c.*324T>C (n.*324T>C)
c.727T>C (p.Ser243Pro)
c.664T>C (p.Ser222Pro)
c.733T>C (p.Ser245Pro)
1g.6474108A>TCA338138738PLEKHG5c.496T>A (p.Ser166Thr)
c.670T>A (p.Ser224Thr)
c.607T>A (p.Ser203Thr)
n.972T>A
c.703T>A (p.Ser235Thr)
c.793T>A (p.Ser265Thr)
c.*708T>A (n.*708T>A)
c.*324T>A (n.*324T>A)
c.727T>A (p.Ser243Thr)
c.664T>A (p.Ser222Thr)
c.733T>A (p.Ser245Thr)
1g.6474109C>ACA338138740PLEKHG5c.495G>T (p.Lys165Asn)
c.669G>T (p.Lys223Asn)
c.606G>T (p.Lys202Asn)
n.971G>T
c.702G>T (p.Lys234Asn)
c.792G>T (p.Lys264Asn)
c.*707G>T (n.*707G>T)
c.*323G>T (n.*323G>T)
c.726G>T (p.Lys242Asn)
c.663G>T (p.Lys221Asn)
c.732G>T (p.Lys244Asn)
1g.6474109C=CA1142384731PLEKHG5c.495G= (p.Lys165=)
c.669G= (p.Lys223=)
c.606G= (p.Lys202=)
n.971G=
c.702G= (p.Lys234=)
c.792G= (p.Lys264=)
c.*707G= (n.*707G=)
c.*323G= (n.*323G=)
c.726G= (p.Lys242=)
c.663G= (p.Lys221=)
c.732G= (p.Lys244=)
1g.6474109C>GCA561832PLEKHG5c.495G>C (p.Lys165Asn)
c.669G>C (p.Lys223Asn)
c.606G>C (p.Lys202Asn)
n.971G>C
c.702G>C (p.Lys234Asn)
c.792G>C (p.Lys264Asn)
c.*707G>C (n.*707G>C)
c.*323G>C (n.*323G>C)
c.726G>C (p.Lys242Asn)
c.663G>C (p.Lys221Asn)
c.732G>C (p.Lys244Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474109C>TCA561831PLEKHG5c.495G>A (p.Lys165=)
c.669G>A (p.Lys223=)
c.606G>A (p.Lys202=)
n.971G>A
c.702G>A (p.Lys234=)
c.792G>A (p.Lys264=)
c.*707G>A (n.*707G>A)
c.*323G>A (n.*323G>A)
c.726G>A (p.Lys242=)
c.663G>A (p.Lys221=)
c.732G>A (p.Lys244=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474110T>ACA338138742PLEKHG5c.494A>T (p.Lys165Met)
c.668A>T (p.Lys223Met)
c.605A>T (p.Lys202Met)
n.970A>T
c.701A>T (p.Lys234Met)
c.791A>T (p.Lys264Met)
c.*706A>T (n.*706A>T)
c.*322A>T (n.*322A>T)
c.725A>T (p.Lys242Met)
c.662A>T (p.Lys221Met)
c.731A>T (p.Lys244Met)
1g.6474110T>CCA561833PLEKHG5c.494A>G (p.Lys165Arg)
c.668A>G (p.Lys223Arg)
c.605A>G (p.Lys202Arg)
n.970A>G
c.701A>G (p.Lys234Arg)
c.791A>G (p.Lys264Arg)
c.*706A>G (n.*706A>G)
c.*322A>G (n.*322A>G)
c.725A>G (p.Lys242Arg)
c.662A>G (p.Lys221Arg)
c.731A>G (p.Lys244Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474110T>GCA338138745PLEKHG5c.494A>C (p.Lys165Thr)
c.668A>C (p.Lys223Thr)
c.605A>C (p.Lys202Thr)
n.970A>C
c.701A>C (p.Lys234Thr)
c.791A>C (p.Lys264Thr)
c.*706A>C (n.*706A>C)
c.*322A>C (n.*322A>C)
c.725A>C (p.Lys242Thr)
c.662A>C (p.Lys221Thr)
c.731A>C (p.Lys244Thr)
1g.6474110T=CA1151505982PLEKHG5c.494A= (p.Lys165=)
c.668A= (p.Lys223=)
c.605A= (p.Lys202=)
n.970A=
c.701A= (p.Lys234=)
c.791A= (p.Lys264=)
c.*706A= (n.*706A=)
c.*322A= (n.*322A=)
c.725A= (p.Lys242=)
c.662A= (p.Lys221=)
c.731A= (p.Lys244=)
1g.6474111T>ACA338138747PLEKHG5c.493A>T (p.Lys165Ter)
c.667A>T (p.Lys223Ter)
c.604A>T (p.Lys202Ter)
n.969A>T
c.700A>T (p.Lys234Ter)
c.790A>T (p.Lys264Ter)
c.*705A>T (n.*705A>T)
c.*321A>T (n.*321A>T)
c.724A>T (p.Lys242Ter)
c.661A>T (p.Lys221Ter)
c.730A>T (p.Lys244Ter)
1g.6474111T>CCA338138749PLEKHG5c.493A>G (p.Lys165Glu)
c.667A>G (p.Lys223Glu)
c.604A>G (p.Lys202Glu)
n.969A>G
c.700A>G (p.Lys234Glu)
c.790A>G (p.Lys264Glu)
c.*705A>G (n.*705A>G)
c.*321A>G (n.*321A>G)
c.724A>G (p.Lys242Glu)
c.661A>G (p.Lys221Glu)
c.730A>G (p.Lys244Glu)
 gnomAD v4
1g.6474111T>GCA338138751PLEKHG5c.493A>C (p.Lys165Gln)
c.667A>C (p.Lys223Gln)
c.604A>C (p.Lys202Gln)
n.969A>C
c.700A>C (p.Lys234Gln)
c.790A>C (p.Lys264Gln)
c.*705A>C (n.*705A>C)
c.*321A>C (n.*321A>C)
c.724A>C (p.Lys242Gln)
c.661A>C (p.Lys221Gln)
c.730A>C (p.Lys244Gln)
1g.6474112G>ACA415833971PLEKHG5c.492C>T (p.Ser164=)
c.666C>T (p.Ser222=)
c.603C>T (p.Ser201=)
n.968C>T
c.699C>T (p.Ser233=)
c.789C>T (p.Ser263=)
c.*704C>T (n.*704C>T)
c.*320C>T (n.*320C>T)
c.723C>T (p.Ser241=)
c.660C>T (p.Ser220=)
c.729C>T (p.Ser243=)
1g.6474112G>CCA415833973PLEKHG5c.492C>G (p.Ser164=)
c.666C>G (p.Ser222=)
c.603C>G (p.Ser201=)
n.968C>G
c.699C>G (p.Ser233=)
c.789C>G (p.Ser263=)
c.*704C>G (n.*704C>G)
c.*320C>G (n.*320C>G)
c.723C>G (p.Ser241=)
c.660C>G (p.Ser220=)
c.729C>G (p.Ser243=)
1g.6474112G>TCA415833972PLEKHG5c.492C>A (p.Ser164=)
c.666C>A (p.Ser222=)
c.603C>A (p.Ser201=)
n.968C>A
c.699C>A (p.Ser233=)
c.789C>A (p.Ser263=)
c.*704C>A (n.*704C>A)
c.*320C>A (n.*320C>A)
c.723C>A (p.Ser241=)
c.660C>A (p.Ser220=)
c.729C>A (p.Ser243=)
1g.6474113G>ACA338138752PLEKHG5c.491C>T (p.Ser164Phe)
c.665C>T (p.Ser222Phe)
c.602C>T (p.Ser201Phe)
n.967C>T
c.698C>T (p.Ser233Phe)
c.788C>T (p.Ser263Phe)
c.*703C>T (n.*703C>T)
c.*319C>T (n.*319C>T)
c.722C>T (p.Ser241Phe)
c.659C>T (p.Ser220Phe)
c.728C>T (p.Ser243Phe)
1g.6474113G>CCA338138754PLEKHG5c.491C>G (p.Ser164Cys)
c.665C>G (p.Ser222Cys)
c.602C>G (p.Ser201Cys)
n.967C>G
c.698C>G (p.Ser233Cys)
c.788C>G (p.Ser263Cys)
c.*703C>G (n.*703C>G)
c.*319C>G (n.*319C>G)
c.722C>G (p.Ser241Cys)
c.659C>G (p.Ser220Cys)
c.728C>G (p.Ser243Cys)
1g.6474113G>TCA338138756PLEKHG5c.491C>A (p.Ser164Tyr)
c.665C>A (p.Ser222Tyr)
c.602C>A (p.Ser201Tyr)
n.967C>A
c.698C>A (p.Ser233Tyr)
c.788C>A (p.Ser263Tyr)
c.*703C>A (n.*703C>A)
c.*319C>A (n.*319C>A)
c.722C>A (p.Ser241Tyr)
c.659C>A (p.Ser220Tyr)
c.728C>A (p.Ser243Tyr)
1g.6474114A>CCA338138757PLEKHG5c.490T>G (p.Ser164Ala)
c.664T>G (p.Ser222Ala)
c.601T>G (p.Ser201Ala)
n.966T>G
c.697T>G (p.Ser233Ala)
c.787T>G (p.Ser263Ala)
c.*702T>G (n.*702T>G)
c.*318T>G (n.*318T>G)
c.721T>G (p.Ser241Ala)
c.658T>G (p.Ser220Ala)
c.727T>G (p.Ser243Ala)
1g.6474114A>GCA338138759PLEKHG5c.490T>C (p.Ser164Pro)
c.664T>C (p.Ser222Pro)
c.601T>C (p.Ser201Pro)
n.966T>C
c.697T>C (p.Ser233Pro)
c.787T>C (p.Ser263Pro)
c.*702T>C (n.*702T>C)
c.*318T>C (n.*318T>C)
c.721T>C (p.Ser241Pro)
c.658T>C (p.Ser220Pro)
c.727T>C (p.Ser243Pro)
1g.6474114A>TCA338138762PLEKHG5c.490T>A (p.Ser164Thr)
c.664T>A (p.Ser222Thr)
c.601T>A (p.Ser201Thr)
n.966T>A
c.697T>A (p.Ser233Thr)
c.787T>A (p.Ser263Thr)
c.*702T>A (n.*702T>A)
c.*318T>A (n.*318T>A)
c.721T>A (p.Ser241Thr)
c.658T>A (p.Ser220Thr)
c.727T>A (p.Ser243Thr)
1g.6474115G>ACA415833974PLEKHG5c.489C>T (p.Asp163=)
c.663C>T (p.Asp221=)
c.600C>T (p.Asp200=)
n.965C>T
c.696C>T (p.Asp232=)
c.786C>T (p.Asp262=)
c.*701C>T (n.*701C>T)
c.*317C>T (n.*317C>T)
c.720C>T (p.Asp240=)
c.657C>T (p.Asp219=)
c.726C>T (p.Asp242=)
 dbSNP gnomAD v3 gnomAD v4
1g.6474115G>CCA338138766PLEKHG5c.489C>G (p.Asp163Glu)
c.663C>G (p.Asp221Glu)
c.600C>G (p.Asp200Glu)
n.965C>G
c.696C>G (p.Asp232Glu)
c.786C>G (p.Asp262Glu)
c.*701C>G (n.*701C>G)
c.*317C>G (n.*317C>G)
c.720C>G (p.Asp240Glu)
c.657C>G (p.Asp219Glu)
c.726C>G (p.Asp242Glu)
 ClinVar
1g.6474115G=CA1151505985PLEKHG5c.489C= (p.Asp163=)
c.663C= (p.Asp221=)
c.600C= (p.Asp200=)
n.965C=
c.696C= (p.Asp232=)
c.786C= (p.Asp262=)
c.*701C= (n.*701C=)
c.*317C= (n.*317C=)
c.720C= (p.Asp240=)
c.657C= (p.Asp219=)
c.726C= (p.Asp242=)
1g.6474115G>TCA338138764PLEKHG5c.489C>A (p.Asp163Glu)
c.663C>A (p.Asp221Glu)
c.600C>A (p.Asp200Glu)
n.965C>A
c.696C>A (p.Asp232Glu)
c.786C>A (p.Asp262Glu)
c.*701C>A (n.*701C>A)
c.*317C>A (n.*317C>A)
c.720C>A (p.Asp240Glu)
c.657C>A (p.Asp219Glu)
c.726C>A (p.Asp242Glu)
1g.6474116T>ACA338138767PLEKHG5c.488A>T (p.Asp163Val)
c.662A>T (p.Asp221Val)
c.599A>T (p.Asp200Val)
n.964A>T
c.695A>T (p.Asp232Val)
c.785A>T (p.Asp262Val)
c.*700A>T (n.*700A>T)
c.*316A>T (n.*316A>T)
c.719A>T (p.Asp240Val)
c.656A>T (p.Asp219Val)
c.725A>T (p.Asp242Val)
1g.6474116T>CCA338138769PLEKHG5c.488A>G (p.Asp163Gly)
c.662A>G (p.Asp221Gly)
c.599A>G (p.Asp200Gly)
n.964A>G
c.695A>G (p.Asp232Gly)
c.785A>G (p.Asp262Gly)
c.*700A>G (n.*700A>G)
c.*316A>G (n.*316A>G)
c.719A>G (p.Asp240Gly)
c.656A>G (p.Asp219Gly)
c.725A>G (p.Asp242Gly)
 gnomAD v4
1g.6474116T>GCA338138771PLEKHG5c.488A>C (p.Asp163Ala)
c.662A>C (p.Asp221Ala)
c.599A>C (p.Asp200Ala)
n.964A>C
c.695A>C (p.Asp232Ala)
c.785A>C (p.Asp262Ala)
c.*700A>C (n.*700A>C)
c.*316A>C (n.*316A>C)
c.719A>C (p.Asp240Ala)
c.656A>C (p.Asp219Ala)
c.725A>C (p.Asp242Ala)
1g.6474117C>ACA338138773PLEKHG5c.487G>T (p.Asp163Tyr)
c.661G>T (p.Asp221Tyr)
c.598G>T (p.Asp200Tyr)
n.963G>T
c.694G>T (p.Asp232Tyr)
c.784G>T (p.Asp262Tyr)
c.*699G>T (n.*699G>T)
c.*315G>T (n.*315G>T)
c.718G>T (p.Asp240Tyr)
c.655G>T (p.Asp219Tyr)
c.724G>T (p.Asp242Tyr)
1g.6474117C=CA1151505988PLEKHG5c.487G= (p.Asp163=)
c.661G= (p.Asp221=)
c.598G= (p.Asp200=)
n.963G=
c.694G= (p.Asp232=)
c.784G= (p.Asp262=)
c.*699G= (n.*699G=)
c.*315G= (n.*315G=)
c.718G= (p.Asp240=)
c.655G= (p.Asp219=)
c.724G= (p.Asp242=)
1g.6474117C>GCA338138774PLEKHG5c.487G>C (p.Asp163His)
c.661G>C (p.Asp221His)
c.598G>C (p.Asp200His)
n.963G>C
c.694G>C (p.Asp232His)
c.784G>C (p.Asp262His)
c.*699G>C (n.*699G>C)
c.*315G>C (n.*315G>C)
c.718G>C (p.Asp240His)
c.655G>C (p.Asp219His)
c.724G>C (p.Asp242His)
 gnomAD v4
1g.6474117C>TCA17243254PLEKHG5c.487G>A (p.Asp163Asn)
c.661G>A (p.Asp221Asn)
c.598G>A (p.Asp200Asn)
n.963G>A
c.694G>A (p.Asp232Asn)
c.784G>A (p.Asp262Asn)
c.*699G>A (n.*699G>A)
c.*315G>A (n.*315G>A)
c.718G>A (p.Asp240Asn)
c.655G>A (p.Asp219Asn)
c.724G>A (p.Asp242Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.6474118C>ACA338138779PLEKHG5c.486G>T (p.Lys162Asn)
c.660G>T (p.Lys220Asn)
c.597G>T (p.Lys199Asn)
n.962G>T
c.693G>T (p.Lys231Asn)
c.783G>T (p.Lys261Asn)
c.*698G>T (n.*698G>T)
c.*314G>T (n.*314G>T)
c.717G>T (p.Lys239Asn)
c.654G>T (p.Lys218Asn)
c.723G>T (p.Lys241Asn)
1g.6474118C>GCA338138778PLEKHG5c.486G>C (p.Lys162Asn)
c.660G>C (p.Lys220Asn)
c.597G>C (p.Lys199Asn)
n.962G>C
c.693G>C (p.Lys231Asn)
c.783G>C (p.Lys261Asn)
c.*698G>C (n.*698G>C)
c.*314G>C (n.*314G>C)
c.717G>C (p.Lys239Asn)
c.654G>C (p.Lys218Asn)
c.723G>C (p.Lys241Asn)
1g.6474118C>TCA415833978PLEKHG5c.486G>A (p.Lys162=)
c.660G>A (p.Lys220=)
c.597G>A (p.Lys199=)
n.962G>A
c.693G>A (p.Lys231=)
c.783G>A (p.Lys261=)
c.*698G>A (n.*698G>A)
c.*314G>A (n.*314G>A)
c.717G>A (p.Lys239=)
c.654G>A (p.Lys218=)
c.723G>A (p.Lys241=)
1g.6474119T>ACA338138782PLEKHG5c.485A>T (p.Lys162Met)
c.659A>T (p.Lys220Met)
c.596A>T (p.Lys199Met)
n.961A>T
c.692A>T (p.Lys231Met)
c.782A>T (p.Lys261Met)
c.*697A>T (n.*697A>T)
c.*313A>T (n.*313A>T)
c.716A>T (p.Lys239Met)
c.653A>T (p.Lys218Met)
c.722A>T (p.Lys241Met)
1g.6474119T>CCA338138783PLEKHG5c.485A>G (p.Lys162Arg)
c.659A>G (p.Lys220Arg)
c.596A>G (p.Lys199Arg)
n.961A>G
c.692A>G (p.Lys231Arg)
c.782A>G (p.Lys261Arg)
c.*697A>G (n.*697A>G)
c.*313A>G (n.*313A>G)
c.716A>G (p.Lys239Arg)
c.653A>G (p.Lys218Arg)
c.722A>G (p.Lys241Arg)
1g.6474119T>GCA338138784PLEKHG5c.485A>C (p.Lys162Thr)
c.659A>C (p.Lys220Thr)
c.596A>C (p.Lys199Thr)
n.961A>C
c.692A>C (p.Lys231Thr)
c.782A>C (p.Lys261Thr)
c.*697A>C (n.*697A>C)
c.*313A>C (n.*313A>C)
c.716A>C (p.Lys239Thr)
c.653A>C (p.Lys218Thr)
c.722A>C (p.Lys241Thr)
1g.6474120T>ACA338138787PLEKHG5c.484A>T (p.Lys162Ter)
c.658A>T (p.Lys220Ter)
c.595A>T (p.Lys199Ter)
n.960A>T
c.691A>T (p.Lys231Ter)
c.781A>T (p.Lys261Ter)
c.*696A>T (n.*696A>T)
c.*312A>T (n.*312A>T)
c.715A>T (p.Lys239Ter)
c.652A>T (p.Lys218Ter)
c.721A>T (p.Lys241Ter)
1g.6474120T>CCA338138789PLEKHG5c.484A>G (p.Lys162Glu)
c.658A>G (p.Lys220Glu)
c.595A>G (p.Lys199Glu)
n.960A>G
c.691A>G (p.Lys231Glu)
c.781A>G (p.Lys261Glu)
c.*696A>G (n.*696A>G)
c.*312A>G (n.*312A>G)
c.715A>G (p.Lys239Glu)
c.652A>G (p.Lys218Glu)
c.721A>G (p.Lys241Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.6474120T>GCA338138790PLEKHG5c.484A>C (p.Lys162Gln)
c.658A>C (p.Lys220Gln)
c.595A>C (p.Lys199Gln)
n.960A>C
c.691A>C (p.Lys231Gln)
c.781A>C (p.Lys261Gln)
c.*696A>C (n.*696A>C)
c.*312A>C (n.*312A>C)
c.715A>C (p.Lys239Gln)
c.652A>C (p.Lys218Gln)
c.721A>C (p.Lys241Gln)
1g.6474120T=CA1151505998PLEKHG5c.484A= (p.Lys162=)
c.658A= (p.Lys220=)
c.595A= (p.Lys199=)
n.960A=
c.691A= (p.Lys231=)
c.781A= (p.Lys261=)
c.*696A= (n.*696A=)
c.*312A= (n.*312A=)
c.715A= (p.Lys239=)
c.652A= (p.Lys218=)
c.721A= (p.Lys241=)
1g.6474121C>ACA338138793PLEKHG5c.483G>T (p.Met161Ile)
c.657G>T (p.Met219Ile)
c.594G>T (p.Met198Ile)
n.959G>T
c.690G>T (p.Met230Ile)
c.780G>T (p.Met260Ile)
c.*695G>T (n.*695G>T)
c.*311G>T (n.*311G>T)
c.714G>T (p.Met238Ile)
c.651G>T (p.Met217Ile)
c.720G>T (p.Met240Ile)
1g.6474121C>GCA338138796PLEKHG5c.483G>C (p.Met161Ile)
c.657G>C (p.Met219Ile)
c.594G>C (p.Met198Ile)
n.959G>C
c.690G>C (p.Met230Ile)
c.780G>C (p.Met260Ile)
c.*695G>C (n.*695G>C)
c.*311G>C (n.*311G>C)
c.714G>C (p.Met238Ile)
c.651G>C (p.Met217Ile)
c.720G>C (p.Met240Ile)
1g.6474121C>TCA338138795PLEKHG5c.483G>A (p.Met161Ile)
c.657G>A (p.Met219Ile)
c.594G>A (p.Met198Ile)
n.959G>A
c.690G>A (p.Met230Ile)
c.780G>A (p.Met260Ile)
c.*695G>A (n.*695G>A)
c.*311G>A (n.*311G>A)
c.714G>A (p.Met238Ile)
c.651G>A (p.Met217Ile)
c.720G>A (p.Met240Ile)
1g.6474122A=CA1141766146PLEKHG5c.482T= (p.Met161=)
c.656T= (p.Met219=)
c.593T= (p.Met198=)
n.958T=
c.689T= (p.Met230=)
c.779T= (p.Met260=)
c.*694T= (n.*694T=)
c.*310T= (n.*310T=)
c.713T= (p.Met238=)
c.650T= (p.Met217=)
c.719T= (p.Met240=)
1g.6474122A>CCA338138799PLEKHG5c.482T>G (p.Met161Arg)
c.656T>G (p.Met219Arg)
c.593T>G (p.Met198Arg)
n.958T>G
c.689T>G (p.Met230Arg)
c.779T>G (p.Met260Arg)
c.*694T>G (n.*694T>G)
c.*310T>G (n.*310T>G)
c.713T>G (p.Met238Arg)
c.650T>G (p.Met217Arg)
c.719T>G (p.Met240Arg)
1g.6474122A>GCA561834PLEKHG5c.482T>C (p.Met161Thr)
c.656T>C (p.Met219Thr)
c.593T>C (p.Met198Thr)
n.958T>C
c.689T>C (p.Met230Thr)
c.779T>C (p.Met260Thr)
c.*694T>C (n.*694T>C)
c.*310T>C (n.*310T>C)
c.713T>C (p.Met238Thr)
c.650T>C (p.Met217Thr)
c.719T>C (p.Met240Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474122A>TCA338138801PLEKHG5c.482T>A (p.Met161Lys)
c.656T>A (p.Met219Lys)
c.593T>A (p.Met198Lys)
n.958T>A
c.689T>A (p.Met230Lys)
c.779T>A (p.Met260Lys)
c.*694T>A (n.*694T>A)
c.*310T>A (n.*310T>A)
c.713T>A (p.Met238Lys)
c.650T>A (p.Met217Lys)
c.719T>A (p.Met240Lys)
1g.6474123T>ACA338138804PLEKHG5c.481A>T (p.Met161Leu)
c.655A>T (p.Met219Leu)
c.592A>T (p.Met198Leu)
n.957A>T
c.688A>T (p.Met230Leu)
c.778A>T (p.Met260Leu)
c.*693A>T (n.*693A>T)
c.*309A>T (n.*309A>T)
c.712A>T (p.Met238Leu)
c.649A>T (p.Met217Leu)
c.718A>T (p.Met240Leu)
1g.6474123T>CCA338138806PLEKHG5c.481A>G (p.Met161Val)
c.655A>G (p.Met219Val)
c.592A>G (p.Met198Val)
n.957A>G
c.688A>G (p.Met230Val)
c.778A>G (p.Met260Val)
c.*693A>G (n.*693A>G)
c.*309A>G (n.*309A>G)
c.712A>G (p.Met238Val)
c.649A>G (p.Met217Val)
c.718A>G (p.Met240Val)
 gnomAD v4
1g.6474123T>GCA338138807PLEKHG5c.481A>C (p.Met161Leu)
c.655A>C (p.Met219Leu)
c.592A>C (p.Met198Leu)
n.957A>C
c.688A>C (p.Met230Leu)
c.778A>C (p.Met260Leu)
c.*693A>C (n.*693A>C)
c.*309A>C (n.*309A>C)
c.712A>C (p.Met238Leu)
c.649A>C (p.Met217Leu)
c.718A>C (p.Met240Leu)
1g.6474124G>ACA415833984PLEKHG5c.480C>T (p.Gly160=)
c.654C>T (p.Gly218=)
c.591C>T (p.Gly197=)
n.956C>T
c.687C>T (p.Gly229=)
c.777C>T (p.Gly259=)
c.*692C>T (n.*692C>T)
c.*308C>T (n.*308C>T)
c.711C>T (p.Gly237=)
c.648C>T (p.Gly216=)
c.717C>T (p.Gly239=)
 dbSNP gnomAD v2 gnomAD v4
1g.6474124G>CCA415833985PLEKHG5c.480C>G (p.Gly160=)
c.654C>G (p.Gly218=)
c.591C>G (p.Gly197=)
n.956C>G
c.687C>G (p.Gly229=)
c.777C>G (p.Gly259=)
c.*692C>G (n.*692C>G)
c.*308C>G (n.*308C>G)
c.711C>G (p.Gly237=)
c.648C>G (p.Gly216=)
c.717C>G (p.Gly239=)
1g.6474124G=CA1151506009PLEKHG5c.480C= (p.Gly160=)
c.654C= (p.Gly218=)
c.591C= (p.Gly197=)
n.956C=
c.687C= (p.Gly229=)
c.777C= (p.Gly259=)
c.*692C= (n.*692C=)
c.*308C= (n.*308C=)
c.711C= (p.Gly237=)
c.648C= (p.Gly216=)
c.717C= (p.Gly239=)
1g.6474124G>TCA415833986PLEKHG5c.480C>A (p.Gly160=)
c.654C>A (p.Gly218=)
c.591C>A (p.Gly197=)
n.956C>A
c.687C>A (p.Gly229=)
c.777C>A (p.Gly259=)
c.*692C>A (n.*692C>A)
c.*308C>A (n.*308C>A)
c.711C>A (p.Gly237=)
c.648C>A (p.Gly216=)
c.717C>A (p.Gly239=)
1g.6474125C>ACA338138809PLEKHG5c.479G>T (p.Gly160Val)
c.653G>T (p.Gly218Val)
c.590G>T (p.Gly197Val)
n.955G>T
c.686G>T (p.Gly229Val)
c.776G>T (p.Gly259Val)
c.*691G>T (n.*691G>T)
c.*307G>T (n.*307G>T)
c.710G>T (p.Gly237Val)
c.647G>T (p.Gly216Val)
c.716G>T (p.Gly239Val)
1g.6474125C=CA1151506047PLEKHG5c.479G= (p.Gly160=)
c.653G= (p.Gly218=)
c.590G= (p.Gly197=)
n.955G=
c.686G= (p.Gly229=)
c.776G= (p.Gly259=)
c.*691G= (n.*691G=)
c.*307G= (n.*307G=)
c.710G= (p.Gly237=)
c.647G= (p.Gly216=)
c.716G= (p.Gly239=)
1g.6474125C>GCA338138810PLEKHG5c.479G>C (p.Gly160Ala)
c.653G>C (p.Gly218Ala)
c.590G>C (p.Gly197Ala)
n.955G>C
c.686G>C (p.Gly229Ala)
c.776G>C (p.Gly259Ala)
c.*691G>C (n.*691G>C)
c.*307G>C (n.*307G>C)
c.710G>C (p.Gly237Ala)
c.647G>C (p.Gly216Ala)
c.716G>C (p.Gly239Ala)
1g.6474125C>TCA561835PLEKHG5c.479G>A (p.Gly160Asp)
c.653G>A (p.Gly218Asp)
c.590G>A (p.Gly197Asp)
n.955G>A
c.686G>A (p.Gly229Asp)
c.776G>A (p.Gly259Asp)
c.*691G>A (n.*691G>A)
c.*307G>A (n.*307G>A)
c.710G>A (p.Gly237Asp)
c.647G>A (p.Gly216Asp)
c.716G>A (p.Gly239Asp)
 ClinVar dbSNP ExAC gnomAD v4
1g.6474126C>ACA338138813PLEKHG5c.478G>T (p.Gly160Cys)
c.652G>T (p.Gly218Cys)
c.589G>T (p.Gly197Cys)
n.954G>T
c.685G>T (p.Gly229Cys)
c.775G>T (p.Gly259Cys)
c.*690G>T (n.*690G>T)
c.*306G>T (n.*306G>T)
c.709G>T (p.Gly237Cys)
c.646G>T (p.Gly216Cys)
c.715G>T (p.Gly239Cys)
1g.6474126C>GCA338138814PLEKHG5c.478G>C (p.Gly160Arg)
c.652G>C (p.Gly218Arg)
c.589G>C (p.Gly197Arg)
n.954G>C
c.685G>C (p.Gly229Arg)
c.775G>C (p.Gly259Arg)
c.*690G>C (n.*690G>C)
c.*306G>C (n.*306G>C)
c.709G>C (p.Gly237Arg)
c.646G>C (p.Gly216Arg)
c.715G>C (p.Gly239Arg)
1g.6474126C>TCA338138816PLEKHG5c.478G>A (p.Gly160Ser)
c.652G>A (p.Gly218Ser)
c.589G>A (p.Gly197Ser)
n.954G>A
c.685G>A (p.Gly229Ser)
c.775G>A (p.Gly259Ser)
c.*690G>A (n.*690G>A)
c.*306G>A (n.*306G>A)
c.709G>A (p.Gly237Ser)
c.646G>A (p.Gly216Ser)
c.715G>A (p.Gly239Ser)
1g.6474127C>ACA338138819PLEKHG5c.477G>T (p.Gln159His)
c.651G>T (p.Gln217His)
c.588G>T (p.Gln196His)
n.953G>T
c.684G>T (p.Gln228His)
c.774G>T (p.Gln258His)
c.*689G>T (n.*689G>T)
c.*305G>T (n.*305G>T)
c.708G>T (p.Gln236His)
c.645G>T (p.Gln215His)
c.714G>T (p.Gln238His)
1g.6474127C=CA1143947756PLEKHG5c.477G= (p.Gln159=)
c.651G= (p.Gln217=)
c.588G= (p.Gln196=)
n.953G=
c.684G= (p.Gln228=)
c.774G= (p.Gln258=)
c.*689G= (n.*689G=)
c.*305G= (n.*305G=)
c.708G= (p.Gln236=)
c.645G= (p.Gln215=)
c.714G= (p.Gln238=)
1g.6474127C>GCA338138820PLEKHG5c.477G>C (p.Gln159His)
c.651G>C (p.Gln217His)
c.588G>C (p.Gln196His)
n.953G>C
c.684G>C (p.Gln228His)
c.774G>C (p.Gln258His)
c.*689G>C (n.*689G>C)
c.*305G>C (n.*305G>C)
c.708G>C (p.Gln236His)
c.645G>C (p.Gln215His)
c.714G>C (p.Gln238His)
1g.6474127C>TCA561836PLEKHG5c.477G>A (p.Gln159=)
c.651G>A (p.Gln217=)
c.588G>A (p.Gln196=)
n.953G>A
c.684G>A (p.Gln228=)
c.774G>A (p.Gln258=)
c.*689G>A (n.*689G>A)
c.*305G>A (n.*305G>A)
c.708G>A (p.Gln236=)
c.645G>A (p.Gln215=)
c.714G>A (p.Gln238=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474128T>ACA338138824PLEKHG5c.476A>T (p.Gln159Leu)
c.650A>T (p.Gln217Leu)
c.587A>T (p.Gln196Leu)
n.952A>T
c.683A>T (p.Gln228Leu)
c.773A>T (p.Gln258Leu)
c.*688A>T (n.*688A>T)
c.*304A>T (n.*304A>T)
c.707A>T (p.Gln236Leu)
c.644A>T (p.Gln215Leu)
c.713A>T (p.Gln238Leu)
1g.6474128T>CCA338138823PLEKHG5c.476A>G (p.Gln159Arg)
c.650A>G (p.Gln217Arg)
c.587A>G (p.Gln196Arg)
n.952A>G
c.683A>G (p.Gln228Arg)
c.773A>G (p.Gln258Arg)
c.*688A>G (n.*688A>G)
c.*304A>G (n.*304A>G)
c.707A>G (p.Gln236Arg)
c.644A>G (p.Gln215Arg)
c.713A>G (p.Gln238Arg)
1g.6474128T>GCA338138826PLEKHG5c.476A>C (p.Gln159Pro)
c.650A>C (p.Gln217Pro)
c.587A>C (p.Gln196Pro)
n.952A>C
c.683A>C (p.Gln228Pro)
c.773A>C (p.Gln258Pro)
c.*688A>C (n.*688A>C)
c.*304A>C (n.*304A>C)
c.707A>C (p.Gln236Pro)
c.644A>C (p.Gln215Pro)
c.713A>C (p.Gln238Pro)
1g.6474129G>ACA338138828PLEKHG5c.475C>T (p.Gln159Ter)
c.649C>T (p.Gln217Ter)
c.586C>T (p.Gln196Ter)
n.951C>T
c.682C>T (p.Gln228Ter)
c.772C>T (p.Gln258Ter)
c.*687C>T (n.*687C>T)
c.*303C>T (n.*303C>T)
c.706C>T (p.Gln236Ter)
c.643C>T (p.Gln215Ter)
c.712C>T (p.Gln238Ter)
1g.6474129G>CCA338138831PLEKHG5c.475C>G (p.Gln159Glu)
c.649C>G (p.Gln217Glu)
c.586C>G (p.Gln196Glu)
n.951C>G
c.682C>G (p.Gln228Glu)
c.772C>G (p.Gln258Glu)
c.*687C>G (n.*687C>G)
c.*303C>G (n.*303C>G)
c.706C>G (p.Gln236Glu)
c.643C>G (p.Gln215Glu)
c.712C>G (p.Gln238Glu)
1g.6474129G>TCA338138830PLEKHG5c.475C>A (p.Gln159Lys)
c.649C>A (p.Gln217Lys)
c.586C>A (p.Gln196Lys)
n.951C>A
c.682C>A (p.Gln228Lys)
c.772C>A (p.Gln258Lys)
c.*687C>A (n.*687C>A)
c.*303C>A (n.*303C>A)
c.706C>A (p.Gln236Lys)
c.643C>A (p.Gln215Lys)
c.712C>A (p.Gln238Lys)
1g.6474130C>ACA338138832PLEKHG5c.474G>T (p.Glu158Asp)
c.648G>T (p.Glu216Asp)
c.585G>T (p.Glu195Asp)
n.950G>T
c.681G>T (p.Glu227Asp)
c.771G>T (p.Glu257Asp)
c.*686G>T (n.*686G>T)
c.*302G>T (n.*302G>T)
c.705G>T (p.Glu235Asp)
c.642G>T (p.Glu214Asp)
c.711G>T (p.Glu237Asp)
1g.6474130C=CA1151506063PLEKHG5c.474G= (p.Glu158=)
c.648G= (p.Glu216=)
c.585G= (p.Glu195=)
n.950G=
c.681G= (p.Glu227=)
c.771G= (p.Glu257=)
c.*686G= (n.*686G=)
c.*302G= (n.*302G=)
c.705G= (p.Glu235=)
c.642G= (p.Glu214=)
c.711G= (p.Glu237=)
1g.6474130C>GCA338138835PLEKHG5c.474G>C (p.Glu158Asp)
c.648G>C (p.Glu216Asp)
c.585G>C (p.Glu195Asp)
n.950G>C
c.681G>C (p.Glu227Asp)
c.771G>C (p.Glu257Asp)
c.*686G>C (n.*686G>C)
c.*302G>C (n.*302G>C)
c.705G>C (p.Glu235Asp)
c.642G>C (p.Glu214Asp)
c.711G>C (p.Glu237Asp)
1g.6474130C>TCA561837PLEKHG5c.474G>A (p.Glu158=)
c.648G>A (p.Glu216=)
c.585G>A (p.Glu195=)
n.950G>A
c.681G>A (p.Glu227=)
c.771G>A (p.Glu257=)
c.*686G>A (n.*686G>A)
c.*302G>A (n.*302G>A)
c.705G>A (p.Glu235=)
c.642G>A (p.Glu214=)
c.711G>A (p.Glu237=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474131T>ACA338138837PLEKHG5c.473A>T (p.Glu158Val)
c.647A>T (p.Glu216Val)
c.584A>T (p.Glu195Val)
n.949A>T
c.680A>T (p.Glu227Val)
c.770A>T (p.Glu257Val)
c.*685A>T (n.*685A>T)
c.*301A>T (n.*301A>T)
c.704A>T (p.Glu235Val)
c.641A>T (p.Glu214Val)
c.710A>T (p.Glu237Val)
1g.6474131T>CCA338138839PLEKHG5c.473A>G (p.Glu158Gly)
c.647A>G (p.Glu216Gly)
c.584A>G (p.Glu195Gly)
n.949A>G
c.680A>G (p.Glu227Gly)
c.770A>G (p.Glu257Gly)
c.*685A>G (n.*685A>G)
c.*301A>G (n.*301A>G)
c.704A>G (p.Glu235Gly)
c.641A>G (p.Glu214Gly)
c.710A>G (p.Glu237Gly)
 ClinVar dbSNP gnomAD v4
1g.6474131T>GCA338138840PLEKHG5c.473A>C (p.Glu158Ala)
c.647A>C (p.Glu216Ala)
c.584A>C (p.Glu195Ala)
n.949A>C
c.680A>C (p.Glu227Ala)
c.770A>C (p.Glu257Ala)
c.*685A>C (n.*685A>C)
c.*301A>C (n.*301A>C)
c.704A>C (p.Glu235Ala)
c.641A>C (p.Glu214Ala)
c.710A>C (p.Glu237Ala)
1g.6474131T=CA1151506069PLEKHG5c.473A= (p.Glu158=)
c.647A= (p.Glu216=)
c.584A= (p.Glu195=)
n.949A=
c.680A= (p.Glu227=)
c.770A= (p.Glu257=)
c.*685A= (n.*685A=)
c.*301A= (n.*301A=)
c.704A= (p.Glu235=)
c.641A= (p.Glu214=)
c.710A= (p.Glu237=)
1g.6474132C>ACA338138842PLEKHG5c.472G>T (p.Glu158Ter)
c.646G>T (p.Glu216Ter)
c.583G>T (p.Glu195Ter)
n.948G>T
c.679G>T (p.Glu227Ter)
c.769G>T (p.Glu257Ter)
c.*684G>T (n.*684G>T)
c.*300G>T (n.*300G>T)
c.703G>T (p.Glu235Ter)
c.640G>T (p.Glu214Ter)
c.709G>T (p.Glu237Ter)
1g.6474132C>GCA338138844PLEKHG5c.472G>C (p.Glu158Gln)
c.646G>C (p.Glu216Gln)
c.583G>C (p.Glu195Gln)
n.948G>C
c.679G>C (p.Glu227Gln)
c.769G>C (p.Glu257Gln)
c.*684G>C (n.*684G>C)
c.*300G>C (n.*300G>C)
c.703G>C (p.Glu235Gln)
c.640G>C (p.Glu214Gln)
c.709G>C (p.Glu237Gln)
1g.6474132C>TCA338138845PLEKHG5c.472G>A (p.Glu158Lys)
c.646G>A (p.Glu216Lys)
c.583G>A (p.Glu195Lys)
n.948G>A
c.679G>A (p.Glu227Lys)
c.769G>A (p.Glu257Lys)
c.*684G>A (n.*684G>A)
c.*300G>A (n.*300G>A)
c.703G>A (p.Glu235Lys)
c.640G>A (p.Glu214Lys)
c.709G>A (p.Glu237Lys)
 gnomAD v4
1g.6474133C>ACA415833996PLEKHG5c.471G>T (p.Val157=)
c.645G>T (p.Val215=)
c.582G>T (p.Val194=)
n.947G>T
c.678G>T (p.Val226=)
c.768G>T (p.Val256=)
c.*683G>T (n.*683G>T)
c.*299G>T (n.*299G>T)
c.702G>T (p.Val234=)
c.639G>T (p.Val213=)
c.708G>T (p.Val236=)
1g.6474133C=CA1151506078PLEKHG5c.471G= (p.Val157=)
c.645G= (p.Val215=)
c.582G= (p.Val194=)
n.947G=
c.678G= (p.Val226=)
c.768G= (p.Val256=)
c.*683G= (n.*683G=)
c.*299G= (n.*299G=)
c.702G= (p.Val234=)
c.639G= (p.Val213=)
c.708G= (p.Val236=)
1g.6474133C>GCA415833994PLEKHG5c.471G>C (p.Val157=)
c.645G>C (p.Val215=)
c.582G>C (p.Val194=)
n.947G>C
c.678G>C (p.Val226=)
c.768G>C (p.Val256=)
c.*683G>C (n.*683G>C)
c.*299G>C (n.*299G>C)
c.702G>C (p.Val234=)
c.639G>C (p.Val213=)
c.708G>C (p.Val236=)
1g.6474133C>TCA415833995PLEKHG5c.471G>A (p.Val157=)
c.645G>A (p.Val215=)
c.582G>A (p.Val194=)
n.947G>A
c.678G>A (p.Val226=)
c.768G>A (p.Val256=)
c.*683G>A (n.*683G>A)
c.*299G>A (n.*299G>A)
c.702G>A (p.Val234=)
c.639G>A (p.Val213=)
c.708G>A (p.Val236=)
 dbSNP gnomAD v4
1g.6474134A>CCA338138847PLEKHG5c.470T>G (p.Val157Gly)
c.644T>G (p.Val215Gly)
c.581T>G (p.Val194Gly)
n.946T>G
c.677T>G (p.Val226Gly)
c.767T>G (p.Val256Gly)
c.*682T>G (n.*682T>G)
c.*298T>G (n.*298T>G)
c.701T>G (p.Val234Gly)
c.638T>G (p.Val213Gly)
c.707T>G (p.Val236Gly)
 gnomAD v4
1g.6474134A>GCA338138848PLEKHG5c.470T>C (p.Val157Ala)
c.644T>C (p.Val215Ala)
c.581T>C (p.Val194Ala)
n.946T>C
c.677T>C (p.Val226Ala)
c.767T>C (p.Val256Ala)
c.*682T>C (n.*682T>C)
c.*298T>C (n.*298T>C)
c.701T>C (p.Val234Ala)
c.638T>C (p.Val213Ala)
c.707T>C (p.Val236Ala)
1g.6474134A>TCA338138850PLEKHG5c.470T>A (p.Val157Glu)
c.644T>A (p.Val215Glu)
c.581T>A (p.Val194Glu)
n.946T>A
c.677T>A (p.Val226Glu)
c.767T>A (p.Val256Glu)
c.*682T>A (n.*682T>A)
c.*298T>A (n.*298T>A)
c.701T>A (p.Val234Glu)
c.638T>A (p.Val213Glu)
c.707T>A (p.Val236Glu)
1g.6474135C>ACA338138851PLEKHG5c.469G>T (p.Val157Leu)
c.643G>T (p.Val215Leu)
c.580G>T (p.Val194Leu)
n.945G>T
c.676G>T (p.Val226Leu)
c.766G>T (p.Val256Leu)
c.*681G>T (n.*681G>T)
c.*297G>T (n.*297G>T)
c.700G>T (p.Val234Leu)
c.637G>T (p.Val213Leu)
c.706G>T (p.Val236Leu)
1g.6474135C>GCA338138852PLEKHG5c.469G>C (p.Val157Leu)
c.643G>C (p.Val215Leu)
c.580G>C (p.Val194Leu)
n.945G>C
c.676G>C (p.Val226Leu)
c.766G>C (p.Val256Leu)
c.*681G>C (n.*681G>C)
c.*297G>C (n.*297G>C)
c.700G>C (p.Val234Leu)
c.637G>C (p.Val213Leu)
c.706G>C (p.Val236Leu)
1g.6474135C>TCA338138854PLEKHG5c.469G>A (p.Val157Met)
c.643G>A (p.Val215Met)
c.580G>A (p.Val194Met)
n.945G>A
c.676G>A (p.Val226Met)
c.766G>A (p.Val256Met)
c.*681G>A (n.*681G>A)
c.*297G>A (n.*297G>A)
c.700G>A (p.Val234Met)
c.637G>A (p.Val213Met)
c.706G>A (p.Val236Met)
1g.6474136C>ACA338138858PLEKHG5c.468G>T (p.Lys156Asn)
c.642G>T (p.Lys214Asn)
c.579G>T (p.Lys193Asn)
n.944G>T
c.675G>T (p.Lys225Asn)
c.765G>T (p.Lys255Asn)
c.*680G>T (n.*680G>T)
c.*296G>T (n.*296G>T)
c.699G>T (p.Lys233Asn)
c.636G>T (p.Lys212Asn)
c.705G>T (p.Lys235Asn)
1g.6474136C>GCA338138856PLEKHG5c.468G>C (p.Lys156Asn)
c.642G>C (p.Lys214Asn)
c.579G>C (p.Lys193Asn)
n.944G>C
c.675G>C (p.Lys225Asn)
c.765G>C (p.Lys255Asn)
c.*680G>C (n.*680G>C)
c.*296G>C (n.*296G>C)
c.699G>C (p.Lys233Asn)
c.636G>C (p.Lys212Asn)
c.705G>C (p.Lys235Asn)
1g.6474136C>TCA415834000PLEKHG5c.468G>A (p.Lys156=)
c.642G>A (p.Lys214=)
c.579G>A (p.Lys193=)
n.944G>A
c.675G>A (p.Lys225=)
c.765G>A (p.Lys255=)
c.*680G>A (n.*680G>A)
c.*296G>A (n.*296G>A)
c.699G>A (p.Lys233=)
c.636G>A (p.Lys212=)
c.705G>A (p.Lys235=)
1g.6474137T>ACA338138859PLEKHG5c.467A>T (p.Lys156Met)
c.641A>T (p.Lys214Met)
c.578A>T (p.Lys193Met)
n.943A>T
c.674A>T (p.Lys225Met)
c.764A>T (p.Lys255Met)
c.*679A>T (n.*679A>T)
c.*295A>T (n.*295A>T)
c.698A>T (p.Lys233Met)
c.635A>T (p.Lys212Met)
c.704A>T (p.Lys235Met)
1g.6474137T>CCA338138860PLEKHG5c.467A>G (p.Lys156Arg)
c.641A>G (p.Lys214Arg)
c.578A>G (p.Lys193Arg)
n.943A>G
c.674A>G (p.Lys225Arg)
c.764A>G (p.Lys255Arg)
c.*679A>G (n.*679A>G)
c.*295A>G (n.*295A>G)
c.698A>G (p.Lys233Arg)
c.635A>G (p.Lys212Arg)
c.704A>G (p.Lys235Arg)
1g.6474137T>GCA338138862PLEKHG5c.467A>C (p.Lys156Thr)
c.641A>C (p.Lys214Thr)
c.578A>C (p.Lys193Thr)
n.943A>C
c.674A>C (p.Lys225Thr)
c.764A>C (p.Lys255Thr)
c.*679A>C (n.*679A>C)
c.*295A>C (n.*295A>C)
c.698A>C (p.Lys233Thr)
c.635A>C (p.Lys212Thr)
c.704A>C (p.Lys235Thr)

Number of alleles fetched