Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.6474037_6474046del | CA2742323541 | PLEKHG5 | c.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?) | |
1 | g.6474040C>A | CA338138462 | PLEKHG5 | c.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) | |
1 | g.6474040C>G | CA338138465 | PLEKHG5 | c.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) | |
1 | g.6474040C>T | CA415833907 | PLEKHG5 | c.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=) | |
1 | g.6474041T>A | CA338138467 | PLEKHG5 | c.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) | |
1 | g.6474041T>C | CA338138470 | PLEKHG5 | c.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) | |
1 | g.6474041T>G | CA338138472 | PLEKHG5 | c.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) | |
1 | g.6474042G>A | CA338138476 | PLEKHG5 | c.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) | |
1 | g.6474042G>C | CA338138478 | PLEKHG5 | c.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) | |
1 | g.6474042G= | CA1151505737 | PLEKHG5 | c.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=) | |
1 | g.6474042G>T | CA338138481 | PLEKHG5 | c.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 |
1 | g.6474044dup | CA2642977439 | PLEKHG5 | c.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 |
1 | g.6474043G>A | CA415833911 | PLEKHG5 | c.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=) | |
1 | g.6474043G>C | CA415833909 | PLEKHG5 | c.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=) | |
1 | g.6474043G>T | CA415833910 | PLEKHG5 | c.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 |
1 | g.6474044G>A | CA338138487 | PLEKHG5 | c.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 |
1 | g.6474044G>C | CA338138490 | PLEKHG5 | c.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 |
1 | g.6474044G>T | CA338138484 | PLEKHG5 | c.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) | |
1 | g.6474045C>A | CA17243075 | PLEKHG5 | c.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 |
1 | g.6474045C= | CA1143355996 | PLEKHG5 | c.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=) | |
1 | g.6474045C>G | CA561810 | PLEKHG5 | c.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 |
1 | g.6474045C>T | CA561809 | PLEKHG5 | c.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 |
1 | g.6474046G>A | CA561811 | PLEKHG5 | c.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 |
1 | g.6474046G>C | CA338138493 | PLEKHG5 | c.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) | |
1 | g.6474046G= | CA1151505750 | PLEKHG5 | c.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=) | |
1 | g.6474046G>T | CA338138495 | PLEKHG5 | c.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) | |
1 | g.6474047T>A | CA338138502 | PLEKHG5 | c.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) | |
1 | g.6474047T>C | CA338138500 | PLEKHG5 | c.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) | |
1 | g.6474047T>G | CA338138499 | PLEKHG5 | c.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) | |
1 | g.6474048C>A | CA338138504 | PLEKHG5 | c.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) | |
1 | g.6474048C>G | CA338138507 | PLEKHG5 | c.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) | |
1 | g.6474048C>T | CA338138510 | PLEKHG5 | c.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 |
1 | g.6474049C>A | CA415833915 | PLEKHG5 | c.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=) | |
1 | g.6474049C>G | CA415833913 | PLEKHG5 | c.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=) | |
1 | g.6474049C>T | CA415833914 | PLEKHG5 | c.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=) | |
1 | g.6474052_6474053del | CA2642977451 | PLEKHG5 | c.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 |
1 | g.6474050A>C | CA338138512 | PLEKHG5 | c.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) | |
1 | g.6474050A>G | CA338138514 | PLEKHG5 | c.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) | |
1 | g.6474050A>T | CA338138516 | PLEKHG5 | c.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) | |
1 | g.6474051C>A | CA338138519 | PLEKHG5 | c.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 |
1 | g.6474051C>G | CA338138524 | PLEKHG5 | c.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) | |
1 | g.6474051C>T | CA338138522 | PLEKHG5 | c.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) | |
1 | g.6474052A= | CA1151505753 | PLEKHG5 | c.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=) | |
1 | g.6474052A>C | CA415833916 | PLEKHG5 | c.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 |
1 | g.6474052A>G | CA415833917 | PLEKHG5 | c.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=) | |
1 | g.6474052A>T | CA415833918 | PLEKHG5 | c.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=) | |
1 | g.6474053C>A | CA338138526 | PLEKHG5 | c.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 |
1 | g.6474053C= | CA1151505755 | PLEKHG5 | c.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=) | |
1 | g.6474053C>G | CA338138528 | PLEKHG5 | c.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) | |
1 | g.6474053C>T | CA561812 | PLEKHG5 | c.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 |
1 | g.6474054G>A | CA561813 | PLEKHG5 | c.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 |
1 | g.6474054G>C | CA338138534 | PLEKHG5 | c.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) | |
1 | g.6474054G= | CA1151505760 | PLEKHG5 | c.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=) | |
1 | g.6474054G>T | CA338138537 | PLEKHG5 | c.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) | |
1 | g.6474055C>A | CA338138539 | PLEKHG5 | c.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) | |
1 | g.6474055C>G | CA338138542 | PLEKHG5 | c.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) | |
1 | g.6474055C>T | CA415833919 | PLEKHG5 | c.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 |
1 | g.6474056T>A | CA338138546 | PLEKHG5 | c.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) | |
1 | g.6474056T>C | CA338138548 | PLEKHG5 | c.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 |
1 | g.6474056T>G | CA338138551 | PLEKHG5 | c.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) | |
1 | g.6474056T= | CA1151505770 | PLEKHG5 | c.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=) | |
1 | g.6474057C>A | CA338138554 | PLEKHG5 | c.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) | |
1 | g.6474057C= | CA1151505786 | PLEKHG5 | c.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=) | |
1 | g.6474057C>G | CA338138559 | PLEKHG5 | c.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) | |
1 | g.6474057C>T | CA10610281 | PLEKHG5 | c.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 |
1 | g.6474058C>A | CA415833921 | PLEKHG5 | c.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=) | |
1 | g.6474058C>G | CA415833922 | PLEKHG5 | c.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=) | |
1 | g.6474058C>T | CA415833923 | PLEKHG5 | c.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=) | |
1 | g.6474059A>C | CA338138561 | PLEKHG5 | c.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) | |
1 | g.6474059A>G | CA338138562 | PLEKHG5 | c.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) | |
1 | g.6474059A>T | CA338138565 | PLEKHG5 | c.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) | |
1 | g.6474060G>A | CA415833924 | PLEKHG5 | c.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=) | |
1 | g.6474060G>C | CA338138567 | PLEKHG5 | c.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) | |
1 | g.6474060G= | CA1151505790 | PLEKHG5 | c.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=) | |
1 | g.6474060G>T | CA338138568 | PLEKHG5 | c.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 |
1 | g.6474060_6474151delinsGGGCGGGGGGCCCGGTCCCAGCTGGCCGCAGAATCGGCAAACTCAGGGACTTGGAGTCCTTCATGCCCTGCTCCACCTTGCCCTCATCTCCA | CA1151505791 | PLEKHG5 | c.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=) | |
1 | g.6474061G>A | CA415833925 | PLEKHG5 | c.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=) | |
1 | g.6474061G>C | CA415833926 | PLEKHG5 | c.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 |
1 | g.6474061G= | CA1151505799 | PLEKHG5 | c.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=) | |
1 | g.6474061G>T | CA415833927 | PLEKHG5 | c.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=) | |
1 | g.6474064_6474154del | CA915941107 | PLEKHG5 | c.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 |
1 | g.6474062G>A | CA338138571 | PLEKHG5 | c.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 |
1 | g.6474062G>C | CA338138572 | PLEKHG5 | c.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) | |
1 | g.6474062G>T | CA338138574 | PLEKHG5 | c.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) | |
1 | g.6474063C>A | CA338138576 | PLEKHG5 | c.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 |
1 | g.6474063C= | CA1144240635 | PLEKHG5 | c.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=) | |
1 | g.6474063C>G | CA561815 | PLEKHG5 | c.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 |
1 | g.6474063C>T | CA561814 | PLEKHG5 | c.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 |
1 | g.6474064G>A | CA561816 | PLEKHG5 | c.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 |
1 | g.6474064G>C | CA561817 | PLEKHG5 | c.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 |
1 | g.6474064G= | CA1143874641 | PLEKHG5 | c.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=) | |
1 | g.6474064G>T | CA415833929 | PLEKHG5 | c.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 |
1 | g.6474069dup | CA645511764 | PLEKHG5 | c.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 |
1 | g.6474069del | CA2642977486 | PLEKHG5 | c.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 |
1 | g.6474065G>A | CA338138582 | PLEKHG5 | c.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 |
1 | g.6474065G>C | CA338138586 | PLEKHG5 | c.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) | |
1 | g.6474065G= | CA1151505830 | PLEKHG5 | c.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=) | |
1 | g.6474065G>T | CA338138584 | PLEKHG5 | c.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 |
1 | g.6474066G>A | CA561818 | PLEKHG5 | c.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 |
1 | g.6474066G>C | CA338138588 | PLEKHG5 | c.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) | |
1 | g.6474066G= | CA1151505832 | PLEKHG5 | c.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=) | |
1 | g.6474066G>T | CA338138590 | PLEKHG5 | c.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) | |
1 | g.6474067G>A | CA415833930 | PLEKHG5 | c.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 |
1 | g.6474067G>C | CA415833931 | PLEKHG5 | c.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 |
1 | g.6474067G= | CA1144028778 | PLEKHG5 | c.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=) | |
1 | g.6474067G>T | CA561819 | PLEKHG5 | c.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 |
1 | g.6474068G>A | CA338138591 | PLEKHG5 | c.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) | |
1 | g.6474068G>C | CA338138593 | PLEKHG5 | c.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) | |
1 | g.6474068G>T | CA338138594 | PLEKHG5 | c.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) | |
1 | g.6474069G>A | CA338138596 | PLEKHG5 | c.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 |
1 | g.6474069G>C | CA338138598 | PLEKHG5 | c.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 |
1 | g.6474069G= | CA1151505840 | PLEKHG5 | c.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=) | |
1 | g.6474069G>T | CA338138600 | PLEKHG5 | c.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 |
1 | g.6474070C>A | CA415833932 | PLEKHG5 | c.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 |
1 | g.6474070C= | CA1151505850 | PLEKHG5 | c.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=) | |
1 | g.6474070C>G | CA415833934 | PLEKHG5 | c.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 |
1 | g.6474070C>T | CA415833933 | PLEKHG5 | c.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 |
1 | g.6474071C>A | CA338138604 | PLEKHG5 | c.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) | |
1 | g.6474071C>G | CA338138605 | PLEKHG5 | c.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) | |
1 | g.6474071C>T | CA338138602 | PLEKHG5 | c.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) | |
1 | g.6474072C>A | CA338138609 | PLEKHG5 | c.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 |
1 | g.6474072C= | CA1141931907 | PLEKHG5 | c.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=) | |
1 | g.6474072C>G | CA561821 | PLEKHG5 | c.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 |
1 | g.6474072C>T | CA561820 | PLEKHG5 | c.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 |
1 | g.6474073G>A | CA561822 | PLEKHG5 | c.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 |
1 | g.6474073G>C | CA415833936 | PLEKHG5 | c.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 |
1 | g.6474073G= | CA1147267477 | PLEKHG5 | c.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=) | |
1 | g.6474073G>T | CA415833937 | PLEKHG5 | c.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=) | |
1 | g.6474074G>A | CA338138613 | PLEKHG5 | c.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) | |
1 | g.6474074G>C | CA338138614 | PLEKHG5 | c.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) | |
1 | g.6474074G= | CA1151505864 | PLEKHG5 | c.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=) | |
1 | g.6474074G>T | CA338138617 | PLEKHG5 | c.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 |
1 | g.6474075T>A | CA338138623 | PLEKHG5 | c.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) | |
1 | g.6474075T>C | CA338138621 | PLEKHG5 | c.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) | |
1 | g.6474075T>G | CA338138620 | PLEKHG5 | c.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) | |
1 | g.6474076C>A | CA415833938 | PLEKHG5 | c.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 |
1 | g.6474076C= | CA1151505866 | PLEKHG5 | c.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=) | |
1 | g.6474076C>G | CA415833939 | PLEKHG5 | c.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=) | |
1 | g.6474076C>T | CA415833940 | PLEKHG5 | c.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 |
1 | g.6474077C>A | CA338138624 | PLEKHG5 | c.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 |
1 | g.6474077C= | CA1144534035 | PLEKHG5 | c.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=) | |
1 | g.6474077C>G | CA561823 | PLEKHG5 | c.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 |
1 | g.6474077C>T | CA338138627 | PLEKHG5 | c.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) | |
1 | g.6474078C>A | CA338138629 | PLEKHG5 | c.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) | |
1 | g.6474078C= | CA1149116479 | PLEKHG5 | c.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=) | |
1 | g.6474078C>G | CA338138631 | PLEKHG5 | c.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) | |
1 | g.6474078C>T | CA561824 | PLEKHG5 | c.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 |
1 | g.6474079A>C | CA415833941 | PLEKHG5 | c.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 |
1 | g.6474079A>G | CA415833942 | PLEKHG5 | c.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=) | |
1 | g.6474079A>T | CA415833943 | PLEKHG5 | c.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=) | |
1 | g.6474080G>A | CA338138634 | PLEKHG5 | c.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) | |
1 | g.6474080G>C | CA338138639 | PLEKHG5 | c.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 |
1 | g.6474080G= | CA1151505881 | PLEKHG5 | c.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=) | |
1 | g.6474080G>T | CA338138637 | PLEKHG5 | c.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 |
1 | g.6474081C>A | CA338138640 | PLEKHG5 | c.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) | |
1 | g.6474081C>G | CA338138641 | PLEKHG5 | c.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) | |
1 | g.6474081C>T | CA338138642 | PLEKHG5 | c.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) | |
1 | g.6474082T>A | CA415833944 | PLEKHG5 | c.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=) | |
1 | g.6474082T>C | CA415833946 | PLEKHG5 | c.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=) | |
1 | g.6474082T>G | CA415833945 | PLEKHG5 | c.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=) | |
1 | g.6474083G>A | CA338138645 | PLEKHG5 | c.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 |
1 | g.6474083G>C | CA338138646 | PLEKHG5 | c.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) | |
1 | g.6474083G= | CA1151505885 | PLEKHG5 | c.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=) | |
1 | g.6474083G>T | CA338138647 | PLEKHG5 | c.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) | |
1 | g.6474084G>A | CA338138650 | PLEKHG5 | c.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 |
1 | g.6474084G>C | CA338138652 | PLEKHG5 | c.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) | |
1 | g.6474084G>T | CA338138654 | PLEKHG5 | c.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) | |
1 | g.6474085C>A | CA415833947 | PLEKHG5 | c.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=) | |
1 | g.6474085C= | CA1151505889 | PLEKHG5 | c.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=) | |
1 | g.6474085C>G | CA415833948 | PLEKHG5 | c.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=) | |
1 | g.6474085C>T | CA415833949 | PLEKHG5 | c.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 |
1 | g.6474086C>A | CA338138656 | PLEKHG5 | c.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) | |
1 | g.6474086C= | CA1141863412 | PLEKHG5 | c.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=) | |
1 | g.6474086C>G | CA338138658 | PLEKHG5 | c.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) | |
1 | g.6474086C>T | CA247314 | PLEKHG5 | c.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 |
1 | g.6474087G>A | CA561825 | PLEKHG5 | c.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 |
1 | g.6474087G>C | CA338138660 | PLEKHG5 | c.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 |
1 | g.6474087G= | CA1143872653 | PLEKHG5 | c.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=) | |
1 | g.6474087G>T | CA415833950 | PLEKHG5 | c.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 |
1 | g.6474087_6474088delinsGC | CA1151505909 | PLEKHG5 | c.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=) | |
1 | g.6474088del | CA521018915 | PLEKHG5 | c.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 |
1 | g.6474088C>A | CA415833951 | PLEKHG5 | c.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 |
1 | g.6474088C= | CA1151505918 | PLEKHG5 | c.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=) | |
1 | g.6474088C>G | CA415833952 | PLEKHG5 | c.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=) | |
1 | g.6474088C>T | CA415833953 | PLEKHG5 | c.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=) | |
1 | g.6474089A= | CA1151505923 | PLEKHG5 | c.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=) | |
1 | g.6474089A>C | CA338138662 | PLEKHG5 | c.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) | |
1 | g.6474089A>G | CA338138664 | PLEKHG5 | c.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) | |
1 | g.6474089A>T | CA338138663 | PLEKHG5 | c.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 |
1 | g.6474090G>A | CA561826 | PLEKHG5 | c.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 |
1 | g.6474090G>C | CA338138667 | PLEKHG5 | c.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) | |
1 | g.6474090G= | CA1148885430 | PLEKHG5 | c.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=) | |
1 | g.6474090G>T | CA338138669 | PLEKHG5 | c.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) | |
1 | g.6474091A>C | CA338138670 | PLEKHG5 | c.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) | |
1 | g.6474091A>G | CA415833955 | PLEKHG5 | c.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=) | |
1 | g.6474091A>T | CA415833954 | PLEKHG5 | c.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=) | |
1 | g.6474092A>C | CA338138673 | PLEKHG5 | c.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) | |
1 | g.6474092A>G | CA338138674 | PLEKHG5 | c.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) | |
1 | g.6474092A>T | CA338138676 | PLEKHG5 | c.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) | |
1 | g.6474093T>A | CA338138678 | PLEKHG5 | c.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) | |
1 | g.6474093T>C | CA561827 | PLEKHG5 | c.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 |
1 | g.6474093T>G | CA338138680 | PLEKHG5 | c.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) | |
1 | g.6474093T= | CA1151505926 | PLEKHG5 | c.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=) | |
1 | g.6474094C>A | CA415833956 | PLEKHG5 | c.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=) | |
1 | g.6474094C= | CA1151505930 | PLEKHG5 | c.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=) | |
1 | g.6474094C>G | CA415833957 | PLEKHG5 | c.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 |
1 | g.6474094C>T | CA561828 | PLEKHG5 | c.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 |
1 | g.6474095G>A | CA561829 | PLEKHG5 | c.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 |
1 | g.6474095G>C | CA338138686 | PLEKHG5 | c.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) | |
1 | g.6474095G= | CA1140682502 | PLEKHG5 | c.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=) | |
1 | g.6474095G>T | CA338138684 | PLEKHG5 | c.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 |
1 | g.6474096G>A | CA338138689 | PLEKHG5 | c.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) | |
1 | g.6474096G>C | CA338138690 | PLEKHG5 | c.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) | |
1 | g.6474096G>T | CA338138691 | PLEKHG5 | c.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) | |
1 | g.6474097C>A | CA338138694 | PLEKHG5 | c.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) | |
1 | g.6474097C>G | CA338138696 | PLEKHG5 | c.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) | |
1 | g.6474097C>T | CA415833958 | PLEKHG5 | c.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=) | |
1 | g.6474097_6474099delinsCAA | CA1151505947 | PLEKHG5 | c.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=) | |
1 | g.6474098A>C | CA338138697 | PLEKHG5 | c.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) | |
1 | g.6474098A>G | CA338138699 | PLEKHG5 | c.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) | |
1 | g.6474098A>T | CA338138702 | PLEKHG5 | c.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) | |
1 | g.6474099_6474100del | CA1151505952 | PLEKHG5 | c.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 |
1 | g.6474099A>C | CA338138703 | PLEKHG5 | c.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) | |
1 | g.6474099A>G | CA415833959 | PLEKHG5 | c.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=) | |
1 | g.6474099A>T | CA338138705 | PLEKHG5 | c.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) | |
1 | g.6474100A>C | CA338138708 | PLEKHG5 | c.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) | |
1 | g.6474100A>G | CA415833960 | PLEKHG5 | c.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=) | |
1 | g.6474100A>T | CA338138709 | PLEKHG5 | c.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) | |
1 | g.6474101C>A | CA338138710 | PLEKHG5 | c.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 |
1 | g.6474101C= | CA1151505954 | PLEKHG5 | c.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=) | |
1 | g.6474101C>G | CA338138714 | PLEKHG5 | c.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 |
1 | g.6474101C>T | CA338138712 | PLEKHG5 | c.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 |
1 | g.6474102T>A | CA338138716 | PLEKHG5 | c.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) | |
1 | g.6474102T>C | CA561830 | PLEKHG5 | c.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 |
1 | g.6474102T>G | CA338138717 | PLEKHG5 | c.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) | |
1 | g.6474102T= | CA1151505961 | PLEKHG5 | c.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=) | |
1 | g.6474103C>A | CA415833961 | PLEKHG5 | c.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=) | |
1 | g.6474103C>G | CA415833962 | PLEKHG5 | c.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=) | |
1 | g.6474103C>T | CA415833963 | PLEKHG5 | c.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 |
1 | g.6474104A>C | CA338138720 | PLEKHG5 | c.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) | |
1 | g.6474104A>G | CA338138722 | PLEKHG5 | c.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) | |
1 | g.6474104A>T | CA338138724 | PLEKHG5 | c.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) | |
1 | g.6474105G>A | CA415833964 | PLEKHG5 | c.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 |
1 | g.6474105G>C | CA338138726 | PLEKHG5 | c.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) | |
1 | g.6474105G>T | CA338138728 | PLEKHG5 | c.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) | |
1 | g.6474106G>A | CA415833966 | PLEKHG5 | c.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 |
1 | g.6474106G>C | CA415833967 | PLEKHG5 | c.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=) | |
1 | g.6474106G= | CA1151505970 | PLEKHG5 | c.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=) | |
1 | g.6474106G>T | CA415833968 | PLEKHG5 | c.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=) | |
1 | g.6474107G>A | CA338138730 | PLEKHG5 | c.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) | |
1 | g.6474107G>C | CA338138732 | PLEKHG5 | c.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) | |
1 | g.6474107G>T | CA338138733 | PLEKHG5 | c.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 |
1 | g.6474108A>C | CA338138736 | PLEKHG5 | c.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) | |
1 | g.6474108A>G | CA338138737 | PLEKHG5 | c.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) | |
1 | g.6474108A>T | CA338138738 | PLEKHG5 | c.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) | |
1 | g.6474109C>A | CA338138740 | PLEKHG5 | c.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) | |
1 | g.6474109C= | CA1142384731 | PLEKHG5 | c.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=) | |
1 | g.6474109C>G | CA561832 | PLEKHG5 | c.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 |
1 | g.6474109C>T | CA561831 | PLEKHG5 | c.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 |
1 | g.6474110T>A | CA338138742 | PLEKHG5 | c.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) | |
1 | g.6474110T>C | CA561833 | PLEKHG5 | c.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 |
1 | g.6474110T>G | CA338138745 | PLEKHG5 | c.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) | |
1 | g.6474110T= | CA1151505982 | PLEKHG5 | c.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=) | |
1 | g.6474111T>A | CA338138747 | PLEKHG5 | c.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) | |
1 | g.6474111T>C | CA338138749 | PLEKHG5 | c.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 |
1 | g.6474111T>G | CA338138751 | PLEKHG5 | c.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) | |
1 | g.6474112G>A | CA415833971 | PLEKHG5 | c.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=) | |
1 | g.6474112G>C | CA415833973 | PLEKHG5 | c.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=) | |
1 | g.6474112G>T | CA415833972 | PLEKHG5 | c.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=) | |
1 | g.6474113G>A | CA338138752 | PLEKHG5 | c.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) | |
1 | g.6474113G>C | CA338138754 | PLEKHG5 | c.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) | |
1 | g.6474113G>T | CA338138756 | PLEKHG5 | c.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) | |
1 | g.6474114A>C | CA338138757 | PLEKHG5 | c.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) | |
1 | g.6474114A>G | CA338138759 | PLEKHG5 | c.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) | |
1 | g.6474114A>T | CA338138762 | PLEKHG5 | c.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) | |
1 | g.6474115G>A | CA415833974 | PLEKHG5 | c.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 |
1 | g.6474115G>C | CA338138766 | PLEKHG5 | c.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 |
1 | g.6474115G= | CA1151505985 | PLEKHG5 | c.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=) | |
1 | g.6474115G>T | CA338138764 | PLEKHG5 | c.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) | |
1 | g.6474116T>A | CA338138767 | PLEKHG5 | c.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) | |
1 | g.6474116T>C | CA338138769 | PLEKHG5 | c.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 |
1 | g.6474116T>G | CA338138771 | PLEKHG5 | c.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) | |
1 | g.6474117C>A | CA338138773 | PLEKHG5 | c.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) | |
1 | g.6474117C= | CA1151505988 | PLEKHG5 | c.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=) | |
1 | g.6474117C>G | CA338138774 | PLEKHG5 | c.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 |
1 | g.6474117C>T | CA17243254 | PLEKHG5 | c.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 |
1 | g.6474118C>A | CA338138779 | PLEKHG5 | c.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) | |
1 | g.6474118C>G | CA338138778 | PLEKHG5 | c.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) | |
1 | g.6474118C>T | CA415833978 | PLEKHG5 | c.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=) | |
1 | g.6474119T>A | CA338138782 | PLEKHG5 | c.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) | |
1 | g.6474119T>C | CA338138783 | PLEKHG5 | c.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) | |
1 | g.6474119T>G | CA338138784 | PLEKHG5 | c.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) | |
1 | g.6474120T>A | CA338138787 | PLEKHG5 | c.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) | |
1 | g.6474120T>C | CA338138789 | PLEKHG5 | c.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 |
1 | g.6474120T>G | CA338138790 | PLEKHG5 | c.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) | |
1 | g.6474120T= | CA1151505998 | PLEKHG5 | c.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=) | |
1 | g.6474121C>A | CA338138793 | PLEKHG5 | c.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) | |
1 | g.6474121C>G | CA338138796 | PLEKHG5 | c.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) | |
1 | g.6474121C>T | CA338138795 | PLEKHG5 | c.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) | |
1 | g.6474122A= | CA1141766146 | PLEKHG5 | c.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=) | |
1 | g.6474122A>C | CA338138799 | PLEKHG5 | c.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) | |
1 | g.6474122A>G | CA561834 | PLEKHG5 | c.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 |
1 | g.6474122A>T | CA338138801 | PLEKHG5 | c.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) | |
1 | g.6474123T>A | CA338138804 | PLEKHG5 | c.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) | |
1 | g.6474123T>C | CA338138806 | PLEKHG5 | c.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 |
1 | g.6474123T>G | CA338138807 | PLEKHG5 | c.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) | |
1 | g.6474124G>A | CA415833984 | PLEKHG5 | c.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 |
1 | g.6474124G>C | CA415833985 | PLEKHG5 | c.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=) | |
1 | g.6474124G= | CA1151506009 | PLEKHG5 | c.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=) | |
1 | g.6474124G>T | CA415833986 | PLEKHG5 | c.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=) | |
1 | g.6474125C>A | CA338138809 | PLEKHG5 | c.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) | |
1 | g.6474125C= | CA1151506047 | PLEKHG5 | c.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=) | |
1 | g.6474125C>G | CA338138810 | PLEKHG5 | c.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) | |
1 | g.6474125C>T | CA561835 | PLEKHG5 | c.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 |
1 | g.6474126C>A | CA338138813 | PLEKHG5 | c.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) | |
1 | g.6474126C>G | CA338138814 | PLEKHG5 | c.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) | |
1 | g.6474126C>T | CA338138816 | PLEKHG5 | c.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) | |
1 | g.6474127C>A | CA338138819 | PLEKHG5 | c.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) | |
1 | g.6474127C= | CA1143947756 | PLEKHG5 | c.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=) | |
1 | g.6474127C>G | CA338138820 | PLEKHG5 | c.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) | |
1 | g.6474127C>T | CA561836 | PLEKHG5 | c.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 |
1 | g.6474128T>A | CA338138824 | PLEKHG5 | c.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) | |
1 | g.6474128T>C | CA338138823 | PLEKHG5 | c.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) | |
1 | g.6474128T>G | CA338138826 | PLEKHG5 | c.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) | |
1 | g.6474129G>A | CA338138828 | PLEKHG5 | c.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) | |
1 | g.6474129G>C | CA338138831 | PLEKHG5 | c.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) | |
1 | g.6474129G>T | CA338138830 | PLEKHG5 | c.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) | |
1 | g.6474130C>A | CA338138832 | PLEKHG5 | c.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) | |
1 | g.6474130C= | CA1151506063 | PLEKHG5 | c.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=) | |
1 | g.6474130C>G | CA338138835 | PLEKHG5 | c.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) | |
1 | g.6474130C>T | CA561837 | PLEKHG5 | c.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 |
1 | g.6474131T>A | CA338138837 | PLEKHG5 | c.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) | |
1 | g.6474131T>C | CA338138839 | PLEKHG5 | c.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 |
1 | g.6474131T>G | CA338138840 | PLEKHG5 | c.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) | |
1 | g.6474131T= | CA1151506069 | PLEKHG5 | c.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=) | |
1 | g.6474132C>A | CA338138842 | PLEKHG5 | c.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) | |
1 | g.6474132C>G | CA338138844 | PLEKHG5 | c.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) | |
1 | g.6474132C>T | CA338138845 | PLEKHG5 | c.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 |
1 | g.6474133C>A | CA415833996 | PLEKHG5 | c.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=) | |
1 | g.6474133C= | CA1151506078 | PLEKHG5 | c.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=) | |
1 | g.6474133C>G | CA415833994 | PLEKHG5 | c.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=) | |
1 | g.6474133C>T | CA415833995 | PLEKHG5 | c.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 |
1 | g.6474134A>C | CA338138847 | PLEKHG5 | c.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 |
1 | g.6474134A>G | CA338138848 | PLEKHG5 | c.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) | |
1 | g.6474134A>T | CA338138850 | PLEKHG5 | c.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) | |
1 | g.6474135C>A | CA338138851 | PLEKHG5 | c.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) | |
1 | g.6474135C>G | CA338138852 | PLEKHG5 | c.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) | |
1 | g.6474135C>T | CA338138854 | PLEKHG5 | c.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) | |
1 | g.6474136C>A | CA338138858 | PLEKHG5 | c.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) | |
1 | g.6474136C>G | CA338138856 | PLEKHG5 | c.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) | |
1 | g.6474136C>T | CA415834000 | PLEKHG5 | c.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=) | |
1 | g.6474137T>A | CA338138859 | PLEKHG5 | c.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) | |
1 | g.6474137T>C | CA338138860 | PLEKHG5 | c.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) | |
1 | g.6474137T>G | CA338138862 | PLEKHG5 | c.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) | |
1 | g.6474138T>A | CA338138865 | PLEKHG5 | c.466A>T (p.Lys156Ter) c.640A>T (p.Lys214Ter) c.577A>T (p.Lys193Ter) n.942A>T c.673A>T (p.Lys225Ter) c.763A>T (p.Lys255Ter) c.*678A>T (n.*678A>T) c.*294A>T (n.*294A>T) c.697A>T (p.Lys233Ter) c.634A>T (p.Lys212Ter) c.703A>T (p.Lys235Ter) | |
1 | g.6474138T>C | CA338138866 | PLEKHG5 | c.466A>G (p.Lys156Glu) c.640A>G (p.Lys214Glu) c.577A>G (p.Lys193Glu) n.942A>G c.673A>G (p.Lys225Glu) c.763A>G (p.Lys255Glu) c.*678A>G (n.*678A>G) c.*294A>G (n.*294A>G) c.697A>G (p.Lys233Glu) c.634A>G (p.Lys212Glu) c.703A>G (p.Lys235Glu) | |
1 | g.6474138T>G | CA338138867 | PLEKHG5 | c.466A>C (p.Lys156Gln) c.640A>C (p.Lys214Gln) c.577A>C (p.Lys193Gln) n.942A>C c.673A>C (p.Lys225Gln) c.763A>C (p.Lys255Gln) c.*678A>C (n.*678A>C) c.*294A>C (n.*294A>C) c.697A>C (p.Lys233Gln) c.634A>C (p.Lys212Gln) c.703A>C (p.Lys235Gln) | |
1 | g.6474139G>A | CA415834002 | PLEKHG5 | c.465C>T (p.Gly155=) c.639C>T (p.Gly213=) c.576C>T (p.Gly192=) n.941C>T c.672C>T (p.Gly224=) c.762C>T (p.Gly254=) c.*677C>T (n.*677C>T) c.*293C>T (n.*293C>T) c.696C>T (p.Gly232=) c.633C>T (p.Gly211=) c.702C>T (p.Gly234=) | gnomAD v4 |
1 | g.6474139G>C | CA415834004 | PLEKHG5 | c.465C>G (p.Gly155=) c.639C>G (p.Gly213=) c.576C>G (p.Gly192=) n.941C>G c.672C>G (p.Gly224=) c.762C>G (p.Gly254=) c.*677C>G (n.*677C>G) c.*293C>G (n.*293C>G) c.696C>G (p.Gly232=) c.633C>G (p.Gly211=) c.702C>G (p.Gly234=) | |
1 | g.6474139G>T | CA415834003 | PLEKHG5 | c.465C>A (p.Gly155=) c.639C>A (p.Gly213=) c.576C>A (p.Gly192=) n.941C>A c.672C>A (p.Gly224=) c.762C>A (p.Gly254=) c.*677C>A (n.*677C>A) c.*293C>A (n.*293C>A) c.696C>A (p.Gly232=) c.633C>A (p.Gly211=) c.702C>A (p.Gly234=) | |
1 | g.6474140C>A | CA338138869 | PLEKHG5 | c.464G>T (p.Gly155Val) c.638G>T (p.Gly213Val) c.575G>T (p.Gly192Val) n.940G>T c.671G>T (p.Gly224Val) c.761G>T (p.Gly254Val) c.*676G>T (n.*676G>T) c.*292G>T (n.*292G>T) c.695G>T (p.Gly232Val) c.632G>T (p.Gly211Val) c.701G>T (p.Gly234Val) | |
1 | g.6474140C= | CA1151506084 | PLEKHG5 | c.464G= (p.Gly155=) c.638G= (p.Gly213=) c.575G= (p.Gly192=) n.940G= c.671G= (p.Gly224=) c.761G= (p.Gly254=) c.*676G= (n.*676G=) c.*292G= (n.*292G=) c.695G= (p.Gly232=) c.632G= (p.Gly211=) c.701G= (p.Gly234=) | |
1 | g.6474140C>G | CA338138871 | PLEKHG5 | c.464G>C (p.Gly155Ala) c.638G>C (p.Gly213Ala) c.575G>C (p.Gly192Ala) n.940G>C c.671G>C (p.Gly224Ala) c.761G>C (p.Gly254Ala) c.*676G>C (n.*676G>C) c.*292G>C (n.*292G>C) c.695G>C (p.Gly232Ala) c.632G>C (p.Gly211Ala) c.701G>C (p.Gly234Ala) | |
1 | g.6474140C>T | CA561838 | PLEKHG5 | c.464G>A (p.Gly155Asp) c.638G>A (p.Gly213Asp) c.575G>A (p.Gly192Asp) n.940G>A c.671G>A (p.Gly224Asp) c.761G>A (p.Gly254Asp) c.*676G>A (n.*676G>A) c.*292G>A (n.*292G>A) c.695G>A (p.Gly232Asp) c.632G>A (p.Gly211Asp) c.701G>A (p.Gly234Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |