Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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 |
1 | g.6474141C>A | CA338138874 | PLEKHG5 | c.463G>T (p.Gly155Cys) c.637G>T (p.Gly213Cys) c.574G>T (p.Gly192Cys) n.939G>T c.670G>T (p.Gly224Cys) c.760G>T (p.Gly254Cys) c.*675G>T (n.*675G>T) c.*291G>T (n.*291G>T) c.694G>T (p.Gly232Cys) c.631G>T (p.Gly211Cys) c.700G>T (p.Gly234Cys) | |
1 | g.6474141C= | CA1151506090 | PLEKHG5 | c.463G= (p.Gly155=) c.637G= (p.Gly213=) c.574G= (p.Gly192=) n.939G= c.670G= (p.Gly224=) c.760G= (p.Gly254=) c.*675G= (n.*675G=) c.*291G= (n.*291G=) c.694G= (p.Gly232=) c.631G= (p.Gly211=) c.700G= (p.Gly234=) | |
1 | g.6474141C>G | CA338138875 | PLEKHG5 | c.463G>C (p.Gly155Arg) c.637G>C (p.Gly213Arg) c.574G>C (p.Gly192Arg) n.939G>C c.670G>C (p.Gly224Arg) c.760G>C (p.Gly254Arg) c.*675G>C (n.*675G>C) c.*291G>C (n.*291G>C) c.694G>C (p.Gly232Arg) c.631G>C (p.Gly211Arg) c.700G>C (p.Gly234Arg) | |
1 | g.6474141C>T | CA338138876 | PLEKHG5 | c.463G>A (p.Gly155Ser) c.637G>A (p.Gly213Ser) c.574G>A (p.Gly192Ser) n.939G>A c.670G>A (p.Gly224Ser) c.760G>A (p.Gly254Ser) c.*675G>A (n.*675G>A) c.*291G>A (n.*291G>A) c.694G>A (p.Gly232Ser) c.631G>A (p.Gly211Ser) c.700G>A (p.Gly234Ser) | dbSNP gnomAD v4 |
1 | g.6474142C>A | CA338138877 | PLEKHG5 | c.462G>T (p.Glu154Asp) c.636G>T (p.Glu212Asp) c.573G>T (p.Glu191Asp) n.938G>T c.669G>T (p.Glu223Asp) c.759G>T (p.Glu253Asp) c.*674G>T (n.*674G>T) c.*290G>T (n.*290G>T) c.693G>T (p.Glu231Asp) c.630G>T (p.Glu210Asp) c.699G>T (p.Glu233Asp) | gnomAD v4 |
1 | g.6474142C>G | CA338138879 | PLEKHG5 | c.462G>C (p.Glu154Asp) c.636G>C (p.Glu212Asp) c.573G>C (p.Glu191Asp) n.938G>C c.669G>C (p.Glu223Asp) c.759G>C (p.Glu253Asp) c.*674G>C (n.*674G>C) c.*290G>C (n.*290G>C) c.693G>C (p.Glu231Asp) c.630G>C (p.Glu210Asp) c.699G>C (p.Glu233Asp) | |
1 | g.6474142C>T | CA415834007 | PLEKHG5 | c.462G>A (p.Glu154=) c.636G>A (p.Glu212=) c.573G>A (p.Glu191=) n.938G>A c.669G>A (p.Glu223=) c.759G>A (p.Glu253=) c.*674G>A (n.*674G>A) c.*290G>A (n.*290G>A) c.693G>A (p.Glu231=) c.630G>A (p.Glu210=) c.699G>A (p.Glu233=) | gnomAD v4 |
1 | g.6474143T>A | CA338138881 | PLEKHG5 | c.461A>T (p.Glu154Val) c.635A>T (p.Glu212Val) c.572A>T (p.Glu191Val) n.937A>T c.668A>T (p.Glu223Val) c.758A>T (p.Glu253Val) c.*673A>T (n.*673A>T) c.*289A>T (n.*289A>T) c.692A>T (p.Glu231Val) c.629A>T (p.Glu210Val) c.698A>T (p.Glu233Val) | |
1 | g.6474143T>C | CA338138882 | PLEKHG5 | c.461A>G (p.Glu154Gly) c.635A>G (p.Glu212Gly) c.572A>G (p.Glu191Gly) n.937A>G c.668A>G (p.Glu223Gly) c.758A>G (p.Glu253Gly) c.*673A>G (n.*673A>G) c.*289A>G (n.*289A>G) c.692A>G (p.Glu231Gly) c.629A>G (p.Glu210Gly) c.698A>G (p.Glu233Gly) | |
1 | g.6474143T>G | CA338138883 | PLEKHG5 | c.461A>C (p.Glu154Ala) c.635A>C (p.Glu212Ala) c.572A>C (p.Glu191Ala) n.937A>C c.668A>C (p.Glu223Ala) c.758A>C (p.Glu253Ala) c.*673A>C (n.*673A>C) c.*289A>C (n.*289A>C) c.692A>C (p.Glu231Ala) c.629A>C (p.Glu210Ala) c.698A>C (p.Glu233Ala) | |
1 | g.6474144C>A | CA338138886 | PLEKHG5 | c.460G>T (p.Glu154Ter) c.634G>T (p.Glu212Ter) c.571G>T (p.Glu191Ter) n.936G>T c.667G>T (p.Glu223Ter) c.757G>T (p.Glu253Ter) c.*672G>T (n.*672G>T) c.*288G>T (n.*288G>T) c.691G>T (p.Glu231Ter) c.628G>T (p.Glu210Ter) c.697G>T (p.Glu233Ter) | |
1 | g.6474144C>G | CA338138887 | PLEKHG5 | c.460G>C (p.Glu154Gln) c.634G>C (p.Glu212Gln) c.571G>C (p.Glu191Gln) n.936G>C c.667G>C (p.Glu223Gln) c.757G>C (p.Glu253Gln) c.*672G>C (n.*672G>C) c.*288G>C (n.*288G>C) c.691G>C (p.Glu231Gln) c.628G>C (p.Glu210Gln) c.697G>C (p.Glu233Gln) | COSMIC COSMIC COSMIC |
1 | g.6474144C>T | CA338138889 | PLEKHG5 | c.460G>A (p.Glu154Lys) c.634G>A (p.Glu212Lys) c.571G>A (p.Glu191Lys) n.936G>A c.667G>A (p.Glu223Lys) c.757G>A (p.Glu253Lys) c.*672G>A (n.*672G>A) c.*288G>A (n.*288G>A) c.691G>A (p.Glu231Lys) c.628G>A (p.Glu210Lys) c.697G>A (p.Glu233Lys) | |
1 | g.6474145A>C | CA338138893 | PLEKHG5 | c.459T>G (p.Asp153Glu) c.633T>G (p.Asp211Glu) c.570T>G (p.Asp190Glu) n.935T>G c.666T>G (p.Asp222Glu) c.756T>G (p.Asp252Glu) c.*671T>G (n.*671T>G) c.*287T>G (n.*287T>G) c.690T>G (p.Asp230Glu) c.627T>G (p.Asp209Glu) c.696T>G (p.Asp232Glu) | |
1 | g.6474145A>G | CA415834010 | PLEKHG5 | c.459T>C (p.Asp153=) c.633T>C (p.Asp211=) c.570T>C (p.Asp190=) n.935T>C c.666T>C (p.Asp222=) c.756T>C (p.Asp252=) c.*671T>C (n.*671T>C) c.*287T>C (n.*287T>C) c.690T>C (p.Asp230=) c.627T>C (p.Asp209=) c.696T>C (p.Asp232=) | |
1 | g.6474145A>T | CA338138891 | PLEKHG5 | c.459T>A (p.Asp153Glu) c.633T>A (p.Asp211Glu) c.570T>A (p.Asp190Glu) n.935T>A c.666T>A (p.Asp222Glu) c.756T>A (p.Asp252Glu) c.*671T>A (n.*671T>A) c.*287T>A (n.*287T>A) c.690T>A (p.Asp230Glu) c.627T>A (p.Asp209Glu) c.696T>A (p.Asp232Glu) | |
1 | g.6474146T>A | CA338138895 | PLEKHG5 | c.458A>T (p.Asp153Val) c.632A>T (p.Asp211Val) c.569A>T (p.Asp190Val) n.934A>T c.665A>T (p.Asp222Val) c.755A>T (p.Asp252Val) c.*670A>T (n.*670A>T) c.*286A>T (n.*286A>T) c.689A>T (p.Asp230Val) c.626A>T (p.Asp209Val) c.695A>T (p.Asp232Val) | |
1 | g.6474146T>C | CA561839 | PLEKHG5 | c.458A>G (p.Asp153Gly) c.632A>G (p.Asp211Gly) c.569A>G (p.Asp190Gly) n.934A>G c.665A>G (p.Asp222Gly) c.755A>G (p.Asp252Gly) c.*670A>G (n.*670A>G) c.*286A>G (n.*286A>G) c.689A>G (p.Asp230Gly) c.626A>G (p.Asp209Gly) c.695A>G (p.Asp232Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6474146T>G | CA338138898 | PLEKHG5 | c.458A>C (p.Asp153Ala) c.632A>C (p.Asp211Ala) c.569A>C (p.Asp190Ala) n.934A>C c.665A>C (p.Asp222Ala) c.755A>C (p.Asp252Ala) c.*670A>C (n.*670A>C) c.*286A>C (n.*286A>C) c.689A>C (p.Asp230Ala) c.626A>C (p.Asp209Ala) c.695A>C (p.Asp232Ala) | |
1 | g.6474146T= | CA1151506094 | PLEKHG5 | c.458A= (p.Asp153=) c.632A= (p.Asp211=) c.569A= (p.Asp190=) n.934A= c.665A= (p.Asp222=) c.755A= (p.Asp252=) c.*670A= (n.*670A=) c.*286A= (n.*286A=) c.689A= (p.Asp230=) c.626A= (p.Asp209=) c.695A= (p.Asp232=) | |
1 | g.6474147C>A | CA338138899 | PLEKHG5 | c.457G>T (p.Asp153Tyr) c.631G>T (p.Asp211Tyr) c.568G>T (p.Asp190Tyr) n.933G>T c.664G>T (p.Asp222Tyr) c.754G>T (p.Asp252Tyr) c.*669G>T (n.*669G>T) c.*285G>T (n.*285G>T) c.688G>T (p.Asp230Tyr) c.625G>T (p.Asp209Tyr) c.694G>T (p.Asp232Tyr) | |
1 | g.6474147C>G | CA338138900 | PLEKHG5 | c.457G>C (p.Asp153His) c.631G>C (p.Asp211His) c.568G>C (p.Asp190His) n.933G>C c.664G>C (p.Asp222His) c.754G>C (p.Asp252His) c.*669G>C (n.*669G>C) c.*285G>C (n.*285G>C) c.688G>C (p.Asp230His) c.625G>C (p.Asp209His) c.694G>C (p.Asp232His) | |
1 | g.6474147C>T | CA338138902 | PLEKHG5 | c.457G>A (p.Asp153Asn) c.631G>A (p.Asp211Asn) c.568G>A (p.Asp190Asn) n.933G>A c.664G>A (p.Asp222Asn) c.754G>A (p.Asp252Asn) c.*669G>A (n.*669G>A) c.*285G>A (n.*285G>A) c.688G>A (p.Asp230Asn) c.625G>A (p.Asp209Asn) c.694G>A (p.Asp232Asn) | |
1 | g.6474148T>A | CA415834014 | PLEKHG5 | c.456A>T (p.Gly152=) c.630A>T (p.Gly210=) c.567A>T (p.Gly189=) n.932A>T c.663A>T (p.Gly221=) c.753A>T (p.Gly251=) c.*668A>T (n.*668A>T) c.*284A>T (n.*284A>T) c.687A>T (p.Gly229=) c.624A>T (p.Gly208=) c.693A>T (p.Gly231=) | |
1 | g.6474148T>C | CA17243340 | PLEKHG5 | c.456A>G (p.Gly152=) c.630A>G (p.Gly210=) c.567A>G (p.Gly189=) n.932A>G c.663A>G (p.Gly221=) c.753A>G (p.Gly251=) c.*668A>G (n.*668A>G) c.*284A>G (n.*284A>G) c.687A>G (p.Gly229=) c.624A>G (p.Gly208=) c.693A>G (p.Gly231=) | ClinVar dbSNP gnomAD v4 |
1 | g.6474148T>G | CA415834015 | PLEKHG5 | c.456A>C (p.Gly152=) c.630A>C (p.Gly210=) c.567A>C (p.Gly189=) n.932A>C c.663A>C (p.Gly221=) c.753A>C (p.Gly251=) c.*668A>C (n.*668A>C) c.*284A>C (n.*284A>C) c.687A>C (p.Gly229=) c.624A>C (p.Gly208=) c.693A>C (p.Gly231=) | |
1 | g.6474148T= | CA1151506103 | PLEKHG5 | c.456A= (p.Gly152=) c.630A= (p.Gly210=) c.567A= (p.Gly189=) n.932A= c.663A= (p.Gly221=) c.753A= (p.Gly251=) c.*668A= (n.*668A=) c.*284A= (n.*284A=) c.687A= (p.Gly229=) c.624A= (p.Gly208=) c.693A= (p.Gly231=) | |
1 | g.6474149C>A | CA338138904 | PLEKHG5 | c.455G>T (p.Gly152Val) c.629G>T (p.Gly210Val) c.566G>T (p.Gly189Val) n.931G>T c.662G>T (p.Gly221Val) c.752G>T (p.Gly251Val) c.*667G>T (n.*667G>T) c.*283G>T (n.*283G>T) c.686G>T (p.Gly229Val) c.623G>T (p.Gly208Val) c.692G>T (p.Gly231Val) | |
1 | g.6474149C>G | CA338138907 | PLEKHG5 | c.455G>C (p.Gly152Ala) c.629G>C (p.Gly210Ala) c.566G>C (p.Gly189Ala) n.931G>C c.662G>C (p.Gly221Ala) c.752G>C (p.Gly251Ala) c.*667G>C (n.*667G>C) c.*283G>C (n.*283G>C) c.686G>C (p.Gly229Ala) c.623G>C (p.Gly208Ala) c.692G>C (p.Gly231Ala) | |
1 | g.6474149C>T | CA338138906 | PLEKHG5 | c.455G>A (p.Gly152Glu) c.629G>A (p.Gly210Glu) c.566G>A (p.Gly189Glu) n.931G>A c.662G>A (p.Gly221Glu) c.752G>A (p.Gly251Glu) c.*667G>A (n.*667G>A) c.*283G>A (n.*283G>A) c.686G>A (p.Gly229Glu) c.623G>A (p.Gly208Glu) c.692G>A (p.Gly231Glu) | |
1 | g.6474150C>A | CA338138909 | PLEKHG5 | c.454G>T (p.Gly152Ter) c.628G>T (p.Gly210Ter) c.565G>T (p.Gly189Ter) n.930G>T c.661G>T (p.Gly221Ter) c.751G>T (p.Gly251Ter) c.*666G>T (n.*666G>T) c.*282G>T (n.*282G>T) c.685G>T (p.Gly229Ter) c.622G>T (p.Gly208Ter) c.691G>T (p.Gly231Ter) | |
1 | g.6474150C>G | CA338138911 | PLEKHG5 | c.454G>C (p.Gly152Arg) c.628G>C (p.Gly210Arg) c.565G>C (p.Gly189Arg) n.930G>C c.661G>C (p.Gly221Arg) c.751G>C (p.Gly251Arg) c.*666G>C (n.*666G>C) c.*282G>C (n.*282G>C) c.685G>C (p.Gly229Arg) c.622G>C (p.Gly208Arg) c.691G>C (p.Gly231Arg) | |
1 | g.6474150C>T | CA338138913 | PLEKHG5 | c.454G>A (p.Gly152Arg) c.628G>A (p.Gly210Arg) c.565G>A (p.Gly189Arg) n.930G>A c.661G>A (p.Gly221Arg) c.751G>A (p.Gly251Arg) c.*666G>A (n.*666G>A) c.*282G>A (n.*282G>A) c.685G>A (p.Gly229Arg) c.622G>A (p.Gly208Arg) c.691G>A (p.Gly231Arg) | ClinVar gnomAD v4 |
1 | g.6474151A>C | CA415834019 | PLEKHG5 | c.453T>G (p.Pro151=) c.627T>G (p.Pro209=) c.564T>G (p.Pro188=) n.929T>G c.660T>G (p.Pro220=) c.750T>G (p.Pro250=) c.*665T>G (n.*665T>G) c.*281T>G (n.*281T>G) c.684T>G (p.Pro228=) c.621T>G (p.Pro207=) c.690T>G (p.Pro230=) | |
1 | g.6474151A>G | CA415834021 | PLEKHG5 | c.453T>C (p.Pro151=) c.627T>C (p.Pro209=) c.564T>C (p.Pro188=) n.929T>C c.660T>C (p.Pro220=) c.750T>C (p.Pro250=) c.*665T>C (n.*665T>C) c.*281T>C (n.*281T>C) c.684T>C (p.Pro228=) c.621T>C (p.Pro207=) c.690T>C (p.Pro230=) | |
1 | g.6474151A>T | CA415834022 | PLEKHG5 | c.453T>A (p.Pro151=) c.627T>A (p.Pro209=) c.564T>A (p.Pro188=) n.929T>A c.660T>A (p.Pro220=) c.750T>A (p.Pro250=) c.*665T>A (n.*665T>A) c.*281T>A (n.*281T>A) c.684T>A (p.Pro228=) c.621T>A (p.Pro207=) c.690T>A (p.Pro230=) | |
1 | g.6474152G>A | CA338138915 | PLEKHG5 | c.452C>T (p.Pro151Leu) c.626C>T (p.Pro209Leu) c.563C>T (p.Pro188Leu) n.928C>T c.659C>T (p.Pro220Leu) c.749C>T (p.Pro250Leu) c.*664C>T (n.*664C>T) c.*280C>T (n.*280C>T) c.683C>T (p.Pro228Leu) c.620C>T (p.Pro207Leu) c.689C>T (p.Pro230Leu) | |
1 | g.6474152G>C | CA338138917 | PLEKHG5 | c.452C>G (p.Pro151Arg) c.626C>G (p.Pro209Arg) c.563C>G (p.Pro188Arg) n.928C>G c.659C>G (p.Pro220Arg) c.749C>G (p.Pro250Arg) c.*664C>G (n.*664C>G) c.*280C>G (n.*280C>G) c.683C>G (p.Pro228Arg) c.620C>G (p.Pro207Arg) c.689C>G (p.Pro230Arg) | |
1 | g.6474152G>T | CA338138919 | PLEKHG5 | c.452C>A (p.Pro151His) c.626C>A (p.Pro209His) c.563C>A (p.Pro188His) n.928C>A c.659C>A (p.Pro220His) c.749C>A (p.Pro250His) c.*664C>A (n.*664C>A) c.*280C>A (n.*280C>A) c.683C>A (p.Pro228His) c.620C>A (p.Pro207His) c.689C>A (p.Pro230His) | |
1 | g.6474156_6474160dup | CA2642977635 | PLEKHG5 | c.448_452dup (p.Gly152SerfsTer12) c.622_626dup (p.Gly210SerfsTer12) c.559_563dup (p.Gly189SerfsTer12) n.924_928dup c.655_659dup (p.Gly221SerfsTer12) c.745_749dup (p.Gly251SerfsTer12) c.*660_*664dup (n.*660_*664dup) c.*276_*280dup (n.*276_*280dup) c.679_683dup (p.Gly229SerfsTer12) c.616_620dup (p.Gly208SerfsTer12) c.685_689dup (p.Gly231SerfsTer12) | gnomAD v4 |
1 | g.6474153G>A | CA561840 | PLEKHG5 | c.451C>T (p.Pro151Ser) c.625C>T (p.Pro209Ser) c.562C>T (p.Pro188Ser) n.927C>T c.658C>T (p.Pro220Ser) c.748C>T (p.Pro250Ser) c.*663C>T (n.*663C>T) c.*279C>T (n.*279C>T) c.682C>T (p.Pro228Ser) c.619C>T (p.Pro207Ser) c.688C>T (p.Pro230Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6474153G>C | CA338138922 | PLEKHG5 | c.451C>G (p.Pro151Ala) c.625C>G (p.Pro209Ala) c.562C>G (p.Pro188Ala) n.927C>G c.658C>G (p.Pro220Ala) c.748C>G (p.Pro250Ala) c.*663C>G (n.*663C>G) c.*279C>G (n.*279C>G) c.682C>G (p.Pro228Ala) c.619C>G (p.Pro207Ala) c.688C>G (p.Pro230Ala) | |
1 | g.6474153G= | CA1149110544 | PLEKHG5 | c.451C= (p.Pro151=) c.625C= (p.Pro209=) c.562C= (p.Pro188=) n.927C= c.658C= (p.Pro220=) c.748C= (p.Pro250=) c.*663C= (n.*663C=) c.*279C= (n.*279C=) c.682C= (p.Pro228=) c.619C= (p.Pro207=) c.688C= (p.Pro230=) | |
1 | g.6474153G>T | CA338138924 | PLEKHG5 | c.451C>A (p.Pro151Thr) c.625C>A (p.Pro209Thr) c.562C>A (p.Pro188Thr) n.927C>A c.658C>A (p.Pro220Thr) c.748C>A (p.Pro250Thr) c.*663C>A (n.*663C>A) c.*279C>A (n.*279C>A) c.682C>A (p.Pro228Thr) c.619C>A (p.Pro207Thr) c.688C>A (p.Pro230Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474154C>A | CA338138925 | PLEKHG5 | c.450G>T (p.Lys150Asn) c.624G>T (p.Lys208Asn) c.561G>T (p.Lys187Asn) n.926G>T c.657G>T (p.Lys219Asn) c.747G>T (p.Lys249Asn) c.*662G>T (n.*662G>T) c.*278G>T (n.*278G>T) c.681G>T (p.Lys227Asn) c.618G>T (p.Lys206Asn) c.687G>T (p.Lys229Asn) | |
1 | g.6474154C>G | CA338138927 | PLEKHG5 | c.450G>C (p.Lys150Asn) c.624G>C (p.Lys208Asn) c.561G>C (p.Lys187Asn) n.926G>C c.657G>C (p.Lys219Asn) c.747G>C (p.Lys249Asn) c.*662G>C (n.*662G>C) c.*278G>C (n.*278G>C) c.681G>C (p.Lys227Asn) c.618G>C (p.Lys206Asn) c.687G>C (p.Lys229Asn) | |
1 | g.6474154C>T | CA415834023 | PLEKHG5 | c.450G>A (p.Lys150=) c.624G>A (p.Lys208=) c.561G>A (p.Lys187=) n.926G>A c.657G>A (p.Lys219=) c.747G>A (p.Lys249=) c.*662G>A (n.*662G>A) c.*278G>A (n.*278G>A) c.681G>A (p.Lys227=) c.618G>A (p.Lys206=) c.687G>A (p.Lys229=) | ClinVar gnomAD v4 |
1 | g.6474155T>A | CA338138932 | PLEKHG5 | c.449A>T (p.Lys150Met) c.623A>T (p.Lys208Met) c.560A>T (p.Lys187Met) n.925A>T c.656A>T (p.Lys219Met) c.746A>T (p.Lys249Met) c.*661A>T (n.*661A>T) c.*277A>T (n.*277A>T) c.680A>T (p.Lys227Met) c.617A>T (p.Lys206Met) c.686A>T (p.Lys229Met) | |
1 | g.6474155T>C | CA338138931 | PLEKHG5 | c.449A>G (p.Lys150Arg) c.623A>G (p.Lys208Arg) c.560A>G (p.Lys187Arg) n.925A>G c.656A>G (p.Lys219Arg) c.746A>G (p.Lys249Arg) c.*661A>G (n.*661A>G) c.*277A>G (n.*277A>G) c.680A>G (p.Lys227Arg) c.617A>G (p.Lys206Arg) c.686A>G (p.Lys229Arg) | gnomAD v4 |
1 | g.6474155T>G | CA338138929 | PLEKHG5 | c.449A>C (p.Lys150Thr) c.623A>C (p.Lys208Thr) c.560A>C (p.Lys187Thr) n.925A>C c.656A>C (p.Lys219Thr) c.746A>C (p.Lys249Thr) c.*661A>C (n.*661A>C) c.*277A>C (n.*277A>C) c.680A>C (p.Lys227Thr) c.617A>C (p.Lys206Thr) c.686A>C (p.Lys229Thr) | |
1 | g.6474156T>A | CA338138936 | PLEKHG5 | c.448A>T (p.Lys150Ter) c.622A>T (p.Lys208Ter) c.559A>T (p.Lys187Ter) n.924A>T c.655A>T (p.Lys219Ter) c.745A>T (p.Lys249Ter) c.*660A>T (n.*660A>T) c.*276A>T (n.*276A>T) c.679A>T (p.Lys227Ter) c.616A>T (p.Lys206Ter) c.685A>T (p.Lys229Ter) | |
1 | g.6474156T>C | CA338138934 | PLEKHG5 | c.448A>G (p.Lys150Glu) c.622A>G (p.Lys208Glu) c.559A>G (p.Lys187Glu) n.924A>G c.655A>G (p.Lys219Glu) c.745A>G (p.Lys249Glu) c.*660A>G (n.*660A>G) c.*276A>G (n.*276A>G) c.679A>G (p.Lys227Glu) c.616A>G (p.Lys206Glu) c.685A>G (p.Lys229Glu) | |
1 | g.6474156T>G | CA338138937 | PLEKHG5 | c.448A>C (p.Lys150Gln) c.622A>C (p.Lys208Gln) c.559A>C (p.Lys187Gln) n.924A>C c.655A>C (p.Lys219Gln) c.745A>C (p.Lys249Gln) c.*660A>C (n.*660A>C) c.*276A>C (n.*276A>C) c.679A>C (p.Lys227Gln) c.616A>C (p.Lys206Gln) c.685A>C (p.Lys229Gln) | |
1 | g.6474157G>A | CA415834024 | PLEKHG5 | c.447C>T (p.Ala149=) c.621C>T (p.Ala207=) c.558C>T (p.Ala186=) n.923C>T c.654C>T (p.Ala218=) c.744C>T (p.Ala248=) c.*659C>T (n.*659C>T) c.*275C>T (n.*275C>T) c.678C>T (p.Ala226=) c.615C>T (p.Ala205=) c.684C>T (p.Ala228=) | |
1 | g.6474157G>C | CA415834025 | PLEKHG5 | c.447C>G (p.Ala149=) c.621C>G (p.Ala207=) c.558C>G (p.Ala186=) n.923C>G c.654C>G (p.Ala218=) c.744C>G (p.Ala248=) c.*659C>G (n.*659C>G) c.*275C>G (n.*275C>G) c.678C>G (p.Ala226=) c.615C>G (p.Ala205=) c.684C>G (p.Ala228=) | gnomAD v4 |
1 | g.6474157G>T | CA415834026 | PLEKHG5 | c.447C>A (p.Ala149=) c.621C>A (p.Ala207=) c.558C>A (p.Ala186=) n.923C>A c.654C>A (p.Ala218=) c.744C>A (p.Ala248=) c.*659C>A (n.*659C>A) c.*275C>A (n.*275C>A) c.678C>A (p.Ala226=) c.615C>A (p.Ala205=) c.684C>A (p.Ala228=) | |
1 | g.6474158G>A | CA338138939 | PLEKHG5 | c.446C>T (p.Ala149Val) c.620C>T (p.Ala207Val) c.557C>T (p.Ala186Val) n.922C>T c.653C>T (p.Ala218Val) c.743C>T (p.Ala248Val) c.*658C>T (n.*658C>T) c.*274C>T (n.*274C>T) c.677C>T (p.Ala226Val) c.614C>T (p.Ala205Val) c.683C>T (p.Ala228Val) | |
1 | g.6474158G>C | CA338138941 | PLEKHG5 | c.446C>G (p.Ala149Gly) c.620C>G (p.Ala207Gly) c.557C>G (p.Ala186Gly) n.922C>G c.653C>G (p.Ala218Gly) c.743C>G (p.Ala248Gly) c.*658C>G (n.*658C>G) c.*274C>G (n.*274C>G) c.677C>G (p.Ala226Gly) c.614C>G (p.Ala205Gly) c.683C>G (p.Ala228Gly) | |
1 | g.6474158G>T | CA338138943 | PLEKHG5 | c.446C>A (p.Ala149Asp) c.620C>A (p.Ala207Asp) c.557C>A (p.Ala186Asp) n.922C>A c.653C>A (p.Ala218Asp) c.743C>A (p.Ala248Asp) c.*658C>A (n.*658C>A) c.*274C>A (n.*274C>A) c.677C>A (p.Ala226Asp) c.614C>A (p.Ala205Asp) c.683C>A (p.Ala228Asp) | |
1 | g.6474159C>A | CA338138945 | PLEKHG5 | c.445G>T (p.Ala149Ser) c.619G>T (p.Ala207Ser) c.556G>T (p.Ala186Ser) n.921G>T c.652G>T (p.Ala218Ser) c.742G>T (p.Ala248Ser) c.*657G>T (n.*657G>T) c.*273G>T (n.*273G>T) c.676G>T (p.Ala226Ser) c.613G>T (p.Ala205Ser) c.682G>T (p.Ala228Ser) | |
1 | g.6474159C>G | CA338138947 | PLEKHG5 | c.445G>C (p.Ala149Pro) c.619G>C (p.Ala207Pro) c.556G>C (p.Ala186Pro) n.921G>C c.652G>C (p.Ala218Pro) c.742G>C (p.Ala248Pro) c.*657G>C (n.*657G>C) c.*273G>C (n.*273G>C) c.676G>C (p.Ala226Pro) c.613G>C (p.Ala205Pro) c.682G>C (p.Ala228Pro) | |
1 | g.6474159C>T | CA338138949 | PLEKHG5 | c.445G>A (p.Ala149Thr) c.619G>A (p.Ala207Thr) c.556G>A (p.Ala186Thr) n.921G>A c.652G>A (p.Ala218Thr) c.742G>A (p.Ala248Thr) c.*657G>A (n.*657G>A) c.*273G>A (n.*273G>A) c.676G>A (p.Ala226Thr) c.613G>A (p.Ala205Thr) c.682G>A (p.Ala228Thr) | gnomAD v4 |
1 | g.6474160T>A | CA415834030 | PLEKHG5 | c.444A>T (p.Pro148=) c.618A>T (p.Pro206=) c.555A>T (p.Pro185=) n.920A>T c.651A>T (p.Pro217=) c.741A>T (p.Pro247=) c.*656A>T (n.*656A>T) c.*272A>T (n.*272A>T) c.675A>T (p.Pro225=) c.612A>T (p.Pro204=) c.681A>T (p.Pro227=) | |
1 | g.6474160T>C | CA415834029 | PLEKHG5 | c.444A>G (p.Pro148=) c.618A>G (p.Pro206=) c.555A>G (p.Pro185=) n.920A>G c.651A>G (p.Pro217=) c.741A>G (p.Pro247=) c.*656A>G (n.*656A>G) c.*272A>G (n.*272A>G) c.675A>G (p.Pro225=) c.612A>G (p.Pro204=) c.681A>G (p.Pro227=) | ClinVar |
1 | g.6474160T>G | CA415834028 | PLEKHG5 | c.444A>C (p.Pro148=) c.618A>C (p.Pro206=) c.555A>C (p.Pro185=) n.920A>C c.651A>C (p.Pro217=) c.741A>C (p.Pro247=) c.*656A>C (n.*656A>C) c.*272A>C (n.*272A>C) c.675A>C (p.Pro225=) c.612A>C (p.Pro204=) c.681A>C (p.Pro227=) | |
1 | g.6474161G>A | CA338138951 | PLEKHG5 | c.443C>T (p.Pro148Leu) c.617C>T (p.Pro206Leu) c.554C>T (p.Pro185Leu) n.919C>T c.650C>T (p.Pro217Leu) c.740C>T (p.Pro247Leu) c.*655C>T (n.*655C>T) c.*271C>T (n.*271C>T) c.674C>T (p.Pro225Leu) c.611C>T (p.Pro204Leu) c.680C>T (p.Pro227Leu) | gnomAD v4 |
1 | g.6474161G>C | CA338138953 | PLEKHG5 | c.443C>G (p.Pro148Arg) c.617C>G (p.Pro206Arg) c.554C>G (p.Pro185Arg) n.919C>G c.650C>G (p.Pro217Arg) c.740C>G (p.Pro247Arg) c.*655C>G (n.*655C>G) c.*271C>G (n.*271C>G) c.674C>G (p.Pro225Arg) c.611C>G (p.Pro204Arg) c.680C>G (p.Pro227Arg) | |
1 | g.6474161G>T | CA338138955 | PLEKHG5 | c.443C>A (p.Pro148Gln) c.617C>A (p.Pro206Gln) c.554C>A (p.Pro185Gln) n.919C>A c.650C>A (p.Pro217Gln) c.740C>A (p.Pro247Gln) c.*655C>A (n.*655C>A) c.*271C>A (n.*271C>A) c.674C>A (p.Pro225Gln) c.611C>A (p.Pro204Gln) c.680C>A (p.Pro227Gln) | |
1 | g.6474162G>A | CA338138957 | PLEKHG5 | c.442C>T (p.Pro148Ser) c.616C>T (p.Pro206Ser) c.553C>T (p.Pro185Ser) n.918C>T c.649C>T (p.Pro217Ser) c.739C>T (p.Pro247Ser) c.*654C>T (n.*654C>T) c.*270C>T (n.*270C>T) c.673C>T (p.Pro225Ser) c.610C>T (p.Pro204Ser) c.679C>T (p.Pro227Ser) | |
1 | g.6474162G>C | CA338138958 | PLEKHG5 | c.442C>G (p.Pro148Ala) c.616C>G (p.Pro206Ala) c.553C>G (p.Pro185Ala) n.918C>G c.649C>G (p.Pro217Ala) c.739C>G (p.Pro247Ala) c.*654C>G (n.*654C>G) c.*270C>G (n.*270C>G) c.673C>G (p.Pro225Ala) c.610C>G (p.Pro204Ala) c.679C>G (p.Pro227Ala) | |
1 | g.6474162G>T | CA338138960 | PLEKHG5 | c.442C>A (p.Pro148Thr) c.616C>A (p.Pro206Thr) c.553C>A (p.Pro185Thr) n.918C>A c.649C>A (p.Pro217Thr) c.739C>A (p.Pro247Thr) c.*654C>A (n.*654C>A) c.*270C>A (n.*270C>A) c.673C>A (p.Pro225Thr) c.610C>A (p.Pro204Thr) c.679C>A (p.Pro227Thr) | |
1 | g.6474163G>A | CA415834031 | PLEKHG5 | c.441C>T (p.Ala147=) c.615C>T (p.Ala205=) c.552C>T (p.Ala184=) n.917C>T c.648C>T (p.Ala216=) c.738C>T (p.Ala246=) c.*653C>T (n.*653C>T) c.*269C>T (n.*269C>T) c.672C>T (p.Ala224=) c.609C>T (p.Ala203=) c.678C>T (p.Ala226=) | ClinVar dbSNP gnomAD v4 |
1 | g.6474163G>C | CA415834032 | PLEKHG5 | c.441C>G (p.Ala147=) c.615C>G (p.Ala205=) c.552C>G (p.Ala184=) n.917C>G c.648C>G (p.Ala216=) c.738C>G (p.Ala246=) c.*653C>G (n.*653C>G) c.*269C>G (n.*269C>G) c.672C>G (p.Ala224=) c.609C>G (p.Ala203=) c.678C>G (p.Ala226=) | gnomAD v4 |
1 | g.6474163G= | CA1151506126 | PLEKHG5 | c.441C= (p.Ala147=) c.615C= (p.Ala205=) c.552C= (p.Ala184=) n.917C= c.648C= (p.Ala216=) c.738C= (p.Ala246=) c.*653C= (n.*653C=) c.*269C= (n.*269C=) c.672C= (p.Ala224=) c.609C= (p.Ala203=) c.678C= (p.Ala226=) | |
1 | g.6474163G>T | CA415834033 | PLEKHG5 | c.441C>A (p.Ala147=) c.615C>A (p.Ala205=) c.552C>A (p.Ala184=) n.917C>A c.648C>A (p.Ala216=) c.738C>A (p.Ala246=) c.*653C>A (n.*653C>A) c.*269C>A (n.*269C>A) c.672C>A (p.Ala224=) c.609C>A (p.Ala203=) c.678C>A (p.Ala226=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.6474164G>A | CA338138964 | PLEKHG5 | c.440C>T (p.Ala147Val) c.614C>T (p.Ala205Val) c.551C>T (p.Ala184Val) n.916C>T c.647C>T (p.Ala216Val) c.737C>T (p.Ala246Val) c.*652C>T (n.*652C>T) c.*268C>T (n.*268C>T) c.671C>T (p.Ala224Val) c.608C>T (p.Ala203Val) c.677C>T (p.Ala226Val) | gnomAD v4 |
1 | g.6474164G>C | CA338138962 | PLEKHG5 | c.440C>G (p.Ala147Gly) c.614C>G (p.Ala205Gly) c.551C>G (p.Ala184Gly) n.916C>G c.647C>G (p.Ala216Gly) c.737C>G (p.Ala246Gly) c.*652C>G (n.*652C>G) c.*268C>G (n.*268C>G) c.671C>G (p.Ala224Gly) c.608C>G (p.Ala203Gly) c.677C>G (p.Ala226Gly) | |
1 | g.6474164G>T | CA338138963 | PLEKHG5 | c.440C>A (p.Ala147Asp) c.614C>A (p.Ala205Asp) c.551C>A (p.Ala184Asp) n.916C>A c.647C>A (p.Ala216Asp) c.737C>A (p.Ala246Asp) c.*652C>A (n.*652C>A) c.*268C>A (n.*268C>A) c.671C>A (p.Ala224Asp) c.608C>A (p.Ala203Asp) c.677C>A (p.Ala226Asp) | |
1 | g.6474165C>A | CA338138967 | PLEKHG5 | c.440-1G>T (n.440-1G>T) c.614-1G>T (n.614-1G>T) c.551-1G>T (n.551-1G>T) n.916-1G>T c.647-1G>T (n.647-1G>T) c.737-1G>T (n.737-1G>T) c.*652-1G>T (n.*652-1G>T) c.*268-1G>T (n.*268-1G>T) c.671-1G>T (n.671-1G>T) c.608-1G>T (n.608-1G>T) c.677-1G>T (n.677-1G>T) | |
1 | g.6474165C>G | CA338138968 | PLEKHG5 | c.440-1G>C (n.440-1G>C) c.614-1G>C (n.614-1G>C) c.551-1G>C (n.551-1G>C) n.916-1G>C c.647-1G>C (n.647-1G>C) c.737-1G>C (n.737-1G>C) c.*652-1G>C (n.*652-1G>C) c.*268-1G>C (n.*268-1G>C) c.671-1G>C (n.671-1G>C) c.608-1G>C (n.608-1G>C) c.677-1G>C (n.677-1G>C) | |
1 | g.6474165C>T | CA338138969 | PLEKHG5 | c.440-1G>A (n.440-1G>A) c.614-1G>A (n.614-1G>A) c.551-1G>A (n.551-1G>A) n.916-1G>A c.647-1G>A (n.647-1G>A) c.737-1G>A (n.737-1G>A) c.*652-1G>A (n.*652-1G>A) c.*268-1G>A (n.*268-1G>A) c.671-1G>A (n.671-1G>A) c.608-1G>A (n.608-1G>A) c.677-1G>A (n.677-1G>A) | |
1 | g.6474166T>A | CA338138971 | PLEKHG5 | c.440-2A>T (n.440-2A>T) c.614-2A>T (n.614-2A>T) c.551-2A>T (n.551-2A>T) n.916-2A>T c.647-2A>T (n.647-2A>T) c.737-2A>T (n.737-2A>T) c.*652-2A>T (n.*652-2A>T) c.*268-2A>T (n.*268-2A>T) c.671-2A>T (n.671-2A>T) c.608-2A>T (n.608-2A>T) c.677-2A>T (n.677-2A>T) | |
1 | g.6474166T>C | CA561841 | PLEKHG5 | c.440-2A>G (n.440-2A>G) c.614-2A>G (n.614-2A>G) c.551-2A>G (n.551-2A>G) n.916-2A>G c.647-2A>G (n.647-2A>G) c.737-2A>G (n.737-2A>G) c.*652-2A>G (n.*652-2A>G) c.*268-2A>G (n.*268-2A>G) c.671-2A>G (n.671-2A>G) c.608-2A>G (n.608-2A>G) c.677-2A>G (n.677-2A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474166T>G | CA338138973 | PLEKHG5 | c.440-2A>C (n.440-2A>C) c.614-2A>C (n.614-2A>C) c.551-2A>C (n.551-2A>C) n.916-2A>C c.647-2A>C (n.647-2A>C) c.737-2A>C (n.737-2A>C) c.*652-2A>C (n.*652-2A>C) c.*268-2A>C (n.*268-2A>C) c.671-2A>C (n.671-2A>C) c.608-2A>C (n.608-2A>C) c.677-2A>C (n.677-2A>C) | |
1 | g.6474166T= | CA1142010328 | PLEKHG5 | c.440-2A= (n.440-2A=) c.614-2A= (n.614-2A=) c.551-2A= (n.551-2A=) n.916-2A= c.647-2A= (n.647-2A=) c.737-2A= (n.737-2A=) c.*652-2A= (n.*652-2A=) c.*268-2A= (n.*268-2A=) c.671-2A= (n.671-2A=) c.608-2A= (n.608-2A=) c.677-2A= (n.677-2A=) | |
1 | g.6474166_6474167delinsTG | CA1151506154 | PLEKHG5 | c.440-3_440-2delinsCA (n.440-3_440-2delinsCA) c.614-3_614-2delinsCA (n.614-3_614-2delinsCA) c.551-3_551-2delinsCA (n.551-3_551-2delinsCA) n.916-3_916-2delinsCA c.647-3_647-2delinsCA (n.647-3_647-2delinsCA) c.737-3_737-2delinsCA (n.737-3_737-2delinsCA) c.*652-3_*652-2delinsCA (n.*652-3_*652-2delinsCA) c.*268-3_*268-2delinsCA (n.*268-3_*268-2delinsCA) c.671-3_671-2delinsCA (n.671-3_671-2delinsCA) c.608-3_608-2delinsCA (n.608-3_608-2delinsCA) c.677-3_677-2delinsCA (n.677-3_677-2delinsCA) | |
1 | g.6474167del | CA737854321 | PLEKHG5 | c.440-3del (n.440-3del) c.614-3del (n.614-3del) c.551-3del (n.551-3del) n.916-3del c.647-3del (n.647-3del) c.737-3del (n.737-3del) c.*652-3del (n.*652-3del) c.*268-3del (n.*268-3del) c.671-3del (n.671-3del) c.608-3del (n.608-3del) c.677-3del (n.677-3del) | dbSNP gnomAD v4 |
1 | g.6474170T>C | CA561842 | PLEKHG5 | c.440-6A>G (n.440-6A>G) c.614-6A>G (n.614-6A>G) c.551-6A>G (n.551-6A>G) n.916-6A>G c.647-6A>G (n.647-6A>G) c.737-6A>G (n.737-6A>G) c.*652-6A>G (n.*652-6A>G) c.*268-6A>G (n.*268-6A>G) c.671-6A>G (n.671-6A>G) c.608-6A>G (n.608-6A>G) c.677-6A>G (n.677-6A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474170T>G | CA2642977694 | PLEKHG5 | c.440-6A>C (n.440-6A>C) c.614-6A>C (n.614-6A>C) c.551-6A>C (n.551-6A>C) n.916-6A>C c.647-6A>C (n.647-6A>C) c.737-6A>C (n.737-6A>C) c.*652-6A>C (n.*652-6A>C) c.*268-6A>C (n.*268-6A>C) c.671-6A>C (n.671-6A>C) c.608-6A>C (n.608-6A>C) c.677-6A>C (n.677-6A>C) | gnomAD v4 |
1 | g.6474170T= | CA1143522472 | PLEKHG5 | c.440-6A= (n.440-6A=) c.614-6A= (n.614-6A=) c.551-6A= (n.551-6A=) n.916-6A= c.647-6A= (n.647-6A=) c.737-6A= (n.737-6A=) c.*652-6A= (n.*652-6A=) c.*268-6A= (n.*268-6A=) c.671-6A= (n.671-6A=) c.608-6A= (n.608-6A=) c.677-6A= (n.677-6A=) | |
1 | g.6474170_6474171delinsCA | CA2573132144 | PLEKHG5 | c.440-7_440-6delinsTG (n.440-7_440-6delinsTG) c.614-7_614-6delinsTG (n.614-7_614-6delinsTG) c.551-7_551-6delinsTG (n.551-7_551-6delinsTG) n.916-7_916-6delinsTG c.647-7_647-6delinsTG (n.647-7_647-6delinsTG) c.737-7_737-6delinsTG (n.737-7_737-6delinsTG) c.*652-7_*652-6delinsTG (n.*652-7_*652-6delinsTG) c.*268-7_*268-6delinsTG (n.*268-7_*268-6delinsTG) c.671-7_671-6delinsTG (n.671-7_671-6delinsTG) c.608-7_608-6delinsTG (n.608-7_608-6delinsTG) c.677-7_677-6delinsTG (n.677-7_677-6delinsTG) | ClinVar |
1 | g.6474171G>A | CA561843 | PLEKHG5 | c.440-7C>T (n.440-7C>T) c.614-7C>T (n.614-7C>T) c.551-7C>T (n.551-7C>T) n.916-7C>T c.647-7C>T (n.647-7C>T) c.737-7C>T (n.737-7C>T) c.*652-7C>T (n.*652-7C>T) c.*268-7C>T (n.*268-7C>T) c.671-7C>T (n.671-7C>T) c.608-7C>T (n.608-7C>T) c.677-7C>T (n.677-7C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474171G= | CA1148894314 | PLEKHG5 | c.440-7C= (n.440-7C=) c.614-7C= (n.614-7C=) c.551-7C= (n.551-7C=) n.916-7C= c.647-7C= (n.647-7C=) c.737-7C= (n.737-7C=) c.*652-7C= (n.*652-7C=) c.*268-7C= (n.*268-7C=) c.671-7C= (n.671-7C=) c.608-7C= (n.608-7C=) c.677-7C= (n.677-7C=) | |
1 | g.6474173G>A | CA561844 | PLEKHG5 | c.440-9C>T (n.440-9C>T) c.614-9C>T (n.614-9C>T) c.551-9C>T (n.551-9C>T) n.916-9C>T c.647-9C>T (n.647-9C>T) c.737-9C>T (n.737-9C>T) c.*652-9C>T (n.*652-9C>T) c.*268-9C>T (n.*268-9C>T) c.671-9C>T (n.671-9C>T) c.608-9C>T (n.608-9C>T) c.677-9C>T (n.677-9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6474173G>C | CA521018916 | PLEKHG5 | c.440-9C>G (n.440-9C>G) c.614-9C>G (n.614-9C>G) c.551-9C>G (n.551-9C>G) n.916-9C>G c.647-9C>G (n.647-9C>G) c.737-9C>G (n.737-9C>G) c.*652-9C>G (n.*652-9C>G) c.*268-9C>G (n.*268-9C>G) c.671-9C>G (n.671-9C>G) c.608-9C>G (n.608-9C>G) c.677-9C>G (n.677-9C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6474173G= | CA1151506164 | PLEKHG5 | c.440-9C= (n.440-9C=) c.614-9C= (n.614-9C=) c.551-9C= (n.551-9C=) n.916-9C= c.647-9C= (n.647-9C=) c.737-9C= (n.737-9C=) c.*652-9C= (n.*652-9C=) c.*268-9C= (n.*268-9C=) c.671-9C= (n.671-9C=) c.608-9C= (n.608-9C=) c.677-9C= (n.677-9C=) | |
1 | g.6474177dup | CA2642977705 | PLEKHG5 | c.440-9dup (n.440-9dup) c.614-9dup (n.614-9dup) c.551-9dup (n.551-9dup) n.916-9dup c.647-9dup (n.647-9dup) c.737-9dup (n.737-9dup) c.*652-9dup (n.*652-9dup) c.*268-9dup (n.*268-9dup) c.671-9dup (n.671-9dup) c.608-9dup (n.608-9dup) c.677-9dup (n.677-9dup) | gnomAD v4 |
1 | g.6474174G>A | CA561845 | PLEKHG5 | c.440-10C>T (n.440-10C>T) c.614-10C>T (n.614-10C>T) c.551-10C>T (n.551-10C>T) n.916-10C>T c.647-10C>T (n.647-10C>T) c.737-10C>T (n.737-10C>T) c.*652-10C>T (n.*652-10C>T) c.*268-10C>T (n.*268-10C>T) c.671-10C>T (n.671-10C>T) c.608-10C>T (n.608-10C>T) c.677-10C>T (n.677-10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474174G= | CA1143496913 | PLEKHG5 | c.440-10C= (n.440-10C=) c.614-10C= (n.614-10C=) c.551-10C= (n.551-10C=) n.916-10C= c.647-10C= (n.647-10C=) c.737-10C= (n.737-10C=) c.*652-10C= (n.*652-10C=) c.*268-10C= (n.*268-10C=) c.671-10C= (n.671-10C=) c.608-10C= (n.608-10C=) c.677-10C= (n.677-10C=) | |
1 | g.6474174G>T | CA2642977713 | PLEKHG5 | c.440-10C>A (n.440-10C>A) c.614-10C>A (n.614-10C>A) c.551-10C>A (n.551-10C>A) n.916-10C>A c.647-10C>A (n.647-10C>A) c.737-10C>A (n.737-10C>A) c.*652-10C>A (n.*652-10C>A) c.*268-10C>A (n.*268-10C>A) c.671-10C>A (n.671-10C>A) c.608-10C>A (n.608-10C>A) c.677-10C>A (n.677-10C>A) | gnomAD v4 |
1 | g.6474175G>A | CA561846 | PLEKHG5 | c.440-11C>T (n.440-11C>T) c.614-11C>T (n.614-11C>T) c.551-11C>T (n.551-11C>T) n.916-11C>T c.647-11C>T (n.647-11C>T) c.737-11C>T (n.737-11C>T) c.*652-11C>T (n.*652-11C>T) c.*268-11C>T (n.*268-11C>T) c.671-11C>T (n.671-11C>T) c.608-11C>T (n.608-11C>T) c.677-11C>T (n.677-11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474175G>C | CA2574193491 | PLEKHG5 | c.440-11C>G (n.440-11C>G) c.614-11C>G (n.614-11C>G) c.551-11C>G (n.551-11C>G) n.916-11C>G c.647-11C>G (n.647-11C>G) c.737-11C>G (n.737-11C>G) c.*652-11C>G (n.*652-11C>G) c.*268-11C>G (n.*268-11C>G) c.671-11C>G (n.671-11C>G) c.608-11C>G (n.608-11C>G) c.677-11C>G (n.677-11C>G) | gnomAD v4 |
1 | g.6474175G= | CA1148460467 | PLEKHG5 | c.440-11C= (n.440-11C=) c.614-11C= (n.614-11C=) c.551-11C= (n.551-11C=) n.916-11C= c.647-11C= (n.647-11C=) c.737-11C= (n.737-11C=) c.*652-11C= (n.*652-11C=) c.*268-11C= (n.*268-11C=) c.671-11C= (n.671-11C=) c.608-11C= (n.608-11C=) c.677-11C= (n.677-11C=) | |
1 | g.6474176G= | CA1151506179 | PLEKHG5 | c.440-12C= (n.440-12C=) c.614-12C= (n.614-12C=) c.551-12C= (n.551-12C=) n.916-12C= c.647-12C= (n.647-12C=) c.737-12C= (n.737-12C=) c.*652-12C= (n.*652-12C=) c.*268-12C= (n.*268-12C=) c.671-12C= (n.671-12C=) c.608-12C= (n.608-12C=) c.677-12C= (n.677-12C=) | |
1 | g.6474176G>T | CA521018917 | PLEKHG5 | c.440-12C>A (n.440-12C>A) c.614-12C>A (n.614-12C>A) c.551-12C>A (n.551-12C>A) n.916-12C>A c.647-12C>A (n.647-12C>A) c.737-12C>A (n.737-12C>A) c.*652-12C>A (n.*652-12C>A) c.*268-12C>A (n.*268-12C>A) c.671-12C>A (n.671-12C>A) c.608-12C>A (n.608-12C>A) c.677-12C>A (n.677-12C>A) | dbSNP gnomAD v2 |
1 | g.6474177G>A | CA1151506188 | PLEKHG5 | c.440-13C>T (n.440-13C>T) c.614-13C>T (n.614-13C>T) c.551-13C>T (n.551-13C>T) n.916-13C>T c.647-13C>T (n.647-13C>T) c.737-13C>T (n.737-13C>T) c.*652-13C>T (n.*652-13C>T) c.*268-13C>T (n.*268-13C>T) c.671-13C>T (n.671-13C>T) c.608-13C>T (n.608-13C>T) c.677-13C>T (n.677-13C>T) | dbSNP |
1 | g.6474177G= | CA1146355375 | PLEKHG5 | c.440-13C= (n.440-13C=) c.614-13C= (n.614-13C=) c.551-13C= (n.551-13C=) n.916-13C= c.647-13C= (n.647-13C=) c.737-13C= (n.737-13C=) c.*652-13C= (n.*652-13C=) c.*268-13C= (n.*268-13C=) c.671-13C= (n.671-13C=) c.608-13C= (n.608-13C=) c.677-13C= (n.677-13C=) | |
1 | g.6474177G>T | CA561847 | PLEKHG5 | c.440-13C>A (n.440-13C>A) c.614-13C>A (n.614-13C>A) c.551-13C>A (n.551-13C>A) n.916-13C>A c.647-13C>A (n.647-13C>A) c.737-13C>A (n.737-13C>A) c.*652-13C>A (n.*652-13C>A) c.*268-13C>A (n.*268-13C>A) c.671-13C>A (n.671-13C>A) c.608-13C>A (n.608-13C>A) c.677-13C>A (n.677-13C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474178C>T | CA2642977721 | PLEKHG5 | c.440-14G>A (n.440-14G>A) c.614-14G>A (n.614-14G>A) c.551-14G>A (n.551-14G>A) n.916-14G>A c.647-14G>A (n.647-14G>A) c.737-14G>A (n.737-14G>A) c.*652-14G>A (n.*652-14G>A) c.*268-14G>A (n.*268-14G>A) c.671-14G>A (n.671-14G>A) c.608-14G>A (n.608-14G>A) c.677-14G>A (n.677-14G>A) | gnomAD v4 |
1 | g.6474179C>T | CA2742323542 | PLEKHG5 | c.440-15G>A (n.440-15G>A) c.614-15G>A (n.614-15G>A) c.551-15G>A (n.551-15G>A) n.916-15G>A c.647-15G>A (n.647-15G>A) c.737-15G>A (n.737-15G>A) c.*652-15G>A (n.*652-15G>A) c.*268-15G>A (n.*268-15G>A) c.671-15G>A (n.671-15G>A) c.608-15G>A (n.608-15G>A) c.677-15G>A (n.677-15G>A) | |
1 | g.6474180A>G | CA2742323543 | PLEKHG5 | c.440-16T>C (n.440-16T>C) c.614-16T>C (n.614-16T>C) c.551-16T>C (n.551-16T>C) n.916-16T>C c.647-16T>C (n.647-16T>C) c.737-16T>C (n.737-16T>C) c.*652-16T>C (n.*652-16T>C) c.*268-16T>C (n.*268-16T>C) c.671-16T>C (n.671-16T>C) c.608-16T>C (n.608-16T>C) c.677-16T>C (n.677-16T>C) | |
1 | g.6474181C>A | CA561849 | PLEKHG5 | c.440-17G>T (n.440-17G>T) c.614-17G>T (n.614-17G>T) c.551-17G>T (n.551-17G>T) n.916-17G>T c.647-17G>T (n.647-17G>T) c.737-17G>T (n.737-17G>T) c.*652-17G>T (n.*652-17G>T) c.*268-17G>T (n.*268-17G>T) c.671-17G>T (n.671-17G>T) c.608-17G>T (n.608-17G>T) c.677-17G>T (n.677-17G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474181C= | CA1143446820 | PLEKHG5 | c.440-17G= (n.440-17G=) c.614-17G= (n.614-17G=) c.551-17G= (n.551-17G=) n.916-17G= c.647-17G= (n.647-17G=) c.737-17G= (n.737-17G=) c.*652-17G= (n.*652-17G=) c.*268-17G= (n.*268-17G=) c.671-17G= (n.671-17G=) c.608-17G= (n.608-17G=) c.677-17G= (n.677-17G=) | |
1 | g.6474181C>G | CA521018918 | PLEKHG5 | c.440-17G>C (n.440-17G>C) c.614-17G>C (n.614-17G>C) c.551-17G>C (n.551-17G>C) n.916-17G>C c.647-17G>C (n.647-17G>C) c.737-17G>C (n.737-17G>C) c.*652-17G>C (n.*652-17G>C) c.*268-17G>C (n.*268-17G>C) c.671-17G>C (n.671-17G>C) c.608-17G>C (n.608-17G>C) c.677-17G>C (n.677-17G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474181C>T | CA561848 | PLEKHG5 | c.440-17G>A (n.440-17G>A) c.614-17G>A (n.614-17G>A) c.551-17G>A (n.551-17G>A) n.916-17G>A c.647-17G>A (n.647-17G>A) c.737-17G>A (n.737-17G>A) c.*652-17G>A (n.*652-17G>A) c.*268-17G>A (n.*268-17G>A) c.671-17G>A (n.671-17G>A) c.608-17G>A (n.608-17G>A) c.677-17G>A (n.677-17G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474182G>A | CA521018919 | PLEKHG5 | c.440-18C>T (n.440-18C>T) c.614-18C>T (n.614-18C>T) c.551-18C>T (n.551-18C>T) n.916-18C>T c.647-18C>T (n.647-18C>T) c.737-18C>T (n.737-18C>T) c.*652-18C>T (n.*652-18C>T) c.*268-18C>T (n.*268-18C>T) c.671-18C>T (n.671-18C>T) c.608-18C>T (n.608-18C>T) c.677-18C>T (n.677-18C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474182G>C | CA2642977729 | PLEKHG5 | c.440-18C>G (n.440-18C>G) c.614-18C>G (n.614-18C>G) c.551-18C>G (n.551-18C>G) n.916-18C>G c.647-18C>G (n.647-18C>G) c.737-18C>G (n.737-18C>G) c.*652-18C>G (n.*652-18C>G) c.*268-18C>G (n.*268-18C>G) c.671-18C>G (n.671-18C>G) c.608-18C>G (n.608-18C>G) c.677-18C>G (n.677-18C>G) | gnomAD v4 |
1 | g.6474182G= | CA1151506203 | PLEKHG5 | c.440-18C= (n.440-18C=) c.614-18C= (n.614-18C=) c.551-18C= (n.551-18C=) n.916-18C= c.647-18C= (n.647-18C=) c.737-18C= (n.737-18C=) c.*652-18C= (n.*652-18C=) c.*268-18C= (n.*268-18C=) c.671-18C= (n.671-18C=) c.608-18C= (n.608-18C=) c.677-18C= (n.677-18C=) | |
1 | g.6474184G>A | CA521018920 | PLEKHG5 | c.440-20C>T (n.440-20C>T) c.614-20C>T (n.614-20C>T) c.551-20C>T (n.551-20C>T) n.916-20C>T c.647-20C>T (n.647-20C>T) c.737-20C>T (n.737-20C>T) c.*652-20C>T (n.*652-20C>T) c.*268-20C>T (n.*268-20C>T) c.671-20C>T (n.671-20C>T) c.608-20C>T (n.608-20C>T) c.677-20C>T (n.677-20C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474184G= | CA1151506206 | PLEKHG5 | c.440-20C= (n.440-20C=) c.614-20C= (n.614-20C=) c.551-20C= (n.551-20C=) n.916-20C= c.647-20C= (n.647-20C=) c.737-20C= (n.737-20C=) c.*652-20C= (n.*652-20C=) c.*268-20C= (n.*268-20C=) c.671-20C= (n.671-20C=) c.608-20C= (n.608-20C=) c.677-20C= (n.677-20C=) | |
1 | g.6474185A= | CA1143423188 | PLEKHG5 | c.440-21T= (n.440-21T=) c.614-21T= (n.614-21T=) c.551-21T= (n.551-21T=) n.916-21T= c.647-21T= (n.647-21T=) c.737-21T= (n.737-21T=) c.*652-21T= (n.*652-21T=) c.*268-21T= (n.*268-21T=) c.671-21T= (n.671-21T=) c.608-21T= (n.608-21T=) c.677-21T= (n.677-21T=) | |
1 | g.6474185A>G | CA17243450 | PLEKHG5 | c.440-21T>C (n.440-21T>C) c.614-21T>C (n.614-21T>C) c.551-21T>C (n.551-21T>C) n.916-21T>C c.647-21T>C (n.647-21T>C) c.737-21T>C (n.737-21T>C) c.*652-21T>C (n.*652-21T>C) c.*268-21T>C (n.*268-21T>C) c.671-21T>C (n.671-21T>C) c.608-21T>C (n.608-21T>C) c.677-21T>C (n.677-21T>C) | dbSNP |
1 | g.6474186G>A | CA2642977731 | PLEKHG5 | c.440-22C>T (n.440-22C>T) c.614-22C>T (n.614-22C>T) c.551-22C>T (n.551-22C>T) n.916-22C>T c.647-22C>T (n.647-22C>T) c.737-22C>T (n.737-22C>T) c.*652-22C>T (n.*652-22C>T) c.*268-22C>T (n.*268-22C>T) c.671-22C>T (n.671-22C>T) c.608-22C>T (n.608-22C>T) c.677-22C>T (n.677-22C>T) | gnomAD v4 |
1 | g.6474188T>A | CA17243452 | PLEKHG5 | c.440-24A>T (n.440-24A>T) c.614-24A>T (n.614-24A>T) c.551-24A>T (n.551-24A>T) n.916-24A>T c.647-24A>T (n.647-24A>T) c.737-24A>T (n.737-24A>T) c.*652-24A>T (n.*652-24A>T) c.*268-24A>T (n.*268-24A>T) c.671-24A>T (n.671-24A>T) c.608-24A>T (n.608-24A>T) c.677-24A>T (n.677-24A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474188T>G | CA2642977735 | PLEKHG5 | c.440-24A>C (n.440-24A>C) c.614-24A>C (n.614-24A>C) c.551-24A>C (n.551-24A>C) n.916-24A>C c.647-24A>C (n.647-24A>C) c.737-24A>C (n.737-24A>C) c.*652-24A>C (n.*652-24A>C) c.*268-24A>C (n.*268-24A>C) c.671-24A>C (n.671-24A>C) c.608-24A>C (n.608-24A>C) c.677-24A>C (n.677-24A>C) | gnomAD v4 |
1 | g.6474188T= | CA1145507128 | PLEKHG5 | c.440-24A= (n.440-24A=) c.614-24A= (n.614-24A=) c.551-24A= (n.551-24A=) n.916-24A= c.647-24A= (n.647-24A=) c.737-24A= (n.737-24A=) c.*652-24A= (n.*652-24A=) c.*268-24A= (n.*268-24A=) c.671-24A= (n.671-24A=) c.608-24A= (n.608-24A=) c.677-24A= (n.677-24A=) | |
1 | g.6474189C>T | CA2642977736 | PLEKHG5 | c.440-25G>A (n.440-25G>A) c.614-25G>A (n.614-25G>A) c.551-25G>A (n.551-25G>A) n.916-25G>A c.647-25G>A (n.647-25G>A) c.737-25G>A (n.737-25G>A) c.*652-25G>A (n.*652-25G>A) c.*268-25G>A (n.*268-25G>A) c.671-25G>A (n.671-25G>A) c.608-25G>A (n.608-25G>A) c.677-25G>A (n.677-25G>A) | gnomAD v4 |
1 | g.6474192C>A | CA2742323544 | PLEKHG5 | c.440-28G>T (n.440-28G>T) c.614-28G>T (n.614-28G>T) c.551-28G>T (n.551-28G>T) n.916-28G>T c.647-28G>T (n.647-28G>T) c.737-28G>T (n.737-28G>T) c.*652-28G>T (n.*652-28G>T) c.*268-28G>T (n.*268-28G>T) c.671-28G>T (n.671-28G>T) c.608-28G>T (n.608-28G>T) c.677-28G>T (n.677-28G>T) | |
1 | g.6474193A= | CA1151506212 | PLEKHG5 | c.440-29T= (n.440-29T=) c.614-29T= (n.614-29T=) c.551-29T= (n.551-29T=) n.916-29T= c.647-29T= (n.647-29T=) c.737-29T= (n.737-29T=) c.*652-29T= (n.*652-29T=) c.*268-29T= (n.*268-29T=) c.671-29T= (n.671-29T=) c.608-29T= (n.608-29T=) c.677-29T= (n.677-29T=) | |
1 | g.6474193A>G | CA521018921 | PLEKHG5 | c.440-29T>C (n.440-29T>C) c.614-29T>C (n.614-29T>C) c.551-29T>C (n.551-29T>C) n.916-29T>C c.647-29T>C (n.647-29T>C) c.737-29T>C (n.737-29T>C) c.*652-29T>C (n.*652-29T>C) c.*268-29T>C (n.*268-29T>C) c.671-29T>C (n.671-29T>C) c.608-29T>C (n.608-29T>C) c.677-29T>C (n.677-29T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474193A>T | CA2642977739 | PLEKHG5 | c.440-29T>A (n.440-29T>A) c.614-29T>A (n.614-29T>A) c.551-29T>A (n.551-29T>A) n.916-29T>A c.647-29T>A (n.647-29T>A) c.737-29T>A (n.737-29T>A) c.*652-29T>A (n.*652-29T>A) c.*268-29T>A (n.*268-29T>A) c.671-29T>A (n.671-29T>A) c.608-29T>A (n.608-29T>A) c.677-29T>A (n.677-29T>A) | gnomAD v4 |
1 | g.6474195T>C | CA521018922 | PLEKHG5 | c.440-31A>G (n.440-31A>G) c.614-31A>G (n.614-31A>G) c.551-31A>G (n.551-31A>G) n.916-31A>G c.647-31A>G (n.647-31A>G) c.737-31A>G (n.737-31A>G) c.*652-31A>G (n.*652-31A>G) c.*268-31A>G (n.*268-31A>G) c.671-31A>G (n.671-31A>G) c.608-31A>G (n.608-31A>G) c.677-31A>G (n.677-31A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474195T= | CA1151506213 | PLEKHG5 | c.440-31A= (n.440-31A=) c.614-31A= (n.614-31A=) c.551-31A= (n.551-31A=) n.916-31A= c.647-31A= (n.647-31A=) c.737-31A= (n.737-31A=) c.*652-31A= (n.*652-31A=) c.*268-31A= (n.*268-31A=) c.671-31A= (n.671-31A=) c.608-31A= (n.608-31A=) c.677-31A= (n.677-31A=) |