WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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) |