| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |