UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.6474064G>A | CA561816 | PLEKHG5 | c.540C>T (p.Pro180=) c.714C>T (p.Pro238=) c.651C>T (p.Pro217=) n.1016C>T c.747C>T (p.Pro249=) c.837C>T (p.Pro279=) c.*752C>T (n.*752C>T) c.*368C>T (n.*368C>T) c.771C>T (p.Pro257=) c.708C>T (p.Pro236=) c.777C>T (p.Pro259=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6474064G>C | CA561817 | PLEKHG5 | c.540C>G (p.Pro180=) c.714C>G (p.Pro238=) c.651C>G (p.Pro217=) n.1016C>G c.747C>G (p.Pro249=) c.837C>G (p.Pro279=) c.*752C>G (n.*752C>G) c.*368C>G (n.*368C>G) c.771C>G (p.Pro257=) c.708C>G (p.Pro236=) c.777C>G (p.Pro259=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6474064G= | CA1143874641 | PLEKHG5 | c.540C= (p.Pro180=) c.714C= (p.Pro238=) c.651C= (p.Pro217=) n.1016C= c.747C= (p.Pro249=) c.837C= (p.Pro279=) c.*752C= (n.*752C=) c.*368C= (n.*368C=) c.771C= (p.Pro257=) c.708C= (p.Pro236=) c.777C= (p.Pro259=) | |
| 1 | g.6474064G>T | CA415833929 | PLEKHG5 | c.540C>A (p.Pro180=) c.714C>A (p.Pro238=) c.651C>A (p.Pro217=) n.1016C>A c.747C>A (p.Pro249=) c.837C>A (p.Pro279=) c.*752C>A (n.*752C>A) c.*368C>A (n.*368C>A) c.771C>A (p.Pro257=) c.708C>A (p.Pro236=) c.777C>A (p.Pro259=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.6474069dup | CA645511764 | PLEKHG5 | c.540dup (p.Ala181ArgfsTer?) c.714dup (p.Ala239ArgfsTer?) c.651dup (p.Ala218ArgfsTer?) n.1016dup c.747dup (p.Ala250ArgfsTer?) c.837dup (p.Ala280ArgfsTer?) c.*752dup (n.*752dup) c.*368dup (n.*368dup) c.771dup (p.Ala258ArgfsTer?) c.708dup (p.Ala237ArgfsTer?) c.777dup (p.Ala260ArgfsTer?) | gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.6474069del | CA2642977486 | PLEKHG5 | c.540del (p.Ala181ProfsTer?) c.714del (p.Ala239ProfsTer?) c.651del (p.Ala218ProfsTer?) n.1016del c.747del (p.Ala250ProfsTer?) c.837del (p.Ala280ProfsTer?) c.*752del (n.*752del) c.*368del (n.*368del) c.771del (p.Ala258ProfsTer?) c.708del (p.Ala237ProfsTer?) c.777del (p.Ala260ProfsTer?) | gnomAD v4 |
| 1 | g.6474065G>A | CA338138582 | PLEKHG5 | c.539C>T (p.Pro180Leu) c.713C>T (p.Pro238Leu) c.650C>T (p.Pro217Leu) n.1015C>T c.746C>T (p.Pro249Leu) c.836C>T (p.Pro279Leu) c.*751C>T (n.*751C>T) c.*367C>T (n.*367C>T) c.770C>T (p.Pro257Leu) c.707C>T (p.Pro236Leu) c.776C>T (p.Pro259Leu) | COSMIC COSMIC COSMIC |
| 1 | g.6474065G>C | CA338138586 | PLEKHG5 | c.539C>G (p.Pro180Arg) c.713C>G (p.Pro238Arg) c.650C>G (p.Pro217Arg) n.1015C>G c.746C>G (p.Pro249Arg) c.836C>G (p.Pro279Arg) c.*751C>G (n.*751C>G) c.*367C>G (n.*367C>G) c.770C>G (p.Pro257Arg) c.707C>G (p.Pro236Arg) c.776C>G (p.Pro259Arg) | |
| 1 | g.6474065G= | CA1151505830 | PLEKHG5 | c.539C= (p.Pro180=) c.713C= (p.Pro238=) c.650C= (p.Pro217=) n.1015C= c.746C= (p.Pro249=) c.836C= (p.Pro279=) c.*751C= (n.*751C=) c.*367C= (n.*367C=) c.770C= (p.Pro257=) c.707C= (p.Pro236=) c.776C= (p.Pro259=) | |
| 1 | g.6474065G>T | CA338138584 | PLEKHG5 | c.539C>A (p.Pro180His) c.713C>A (p.Pro238His) c.650C>A (p.Pro217His) n.1015C>A c.746C>A (p.Pro249His) c.836C>A (p.Pro279His) c.*751C>A (n.*751C>A) c.*367C>A (n.*367C>A) c.770C>A (p.Pro257His) c.707C>A (p.Pro236His) c.776C>A (p.Pro259His) | dbSNP gnomAD v4 |
| 1 | g.6474066G>A | CA561818 | PLEKHG5 | c.538C>T (p.Pro180Ser) c.712C>T (p.Pro238Ser) c.649C>T (p.Pro217Ser) n.1014C>T c.745C>T (p.Pro249Ser) c.835C>T (p.Pro279Ser) c.*750C>T (n.*750C>T) c.*366C>T (n.*366C>T) c.769C>T (p.Pro257Ser) c.706C>T (p.Pro236Ser) c.775C>T (p.Pro259Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6474066G>C | CA338138588 | PLEKHG5 | c.538C>G (p.Pro180Ala) c.712C>G (p.Pro238Ala) c.649C>G (p.Pro217Ala) n.1014C>G c.745C>G (p.Pro249Ala) c.835C>G (p.Pro279Ala) c.*750C>G (n.*750C>G) c.*366C>G (n.*366C>G) c.769C>G (p.Pro257Ala) c.706C>G (p.Pro236Ala) c.775C>G (p.Pro259Ala) | |
| 1 | g.6474066G= | CA1151505832 | PLEKHG5 | c.538C= (p.Pro180=) c.712C= (p.Pro238=) c.649C= (p.Pro217=) n.1014C= c.745C= (p.Pro249=) c.835C= (p.Pro279=) c.*750C= (n.*750C=) c.*366C= (n.*366C=) c.769C= (p.Pro257=) c.706C= (p.Pro236=) c.775C= (p.Pro259=) | |
| 1 | g.6474066G>T | CA338138590 | PLEKHG5 | c.538C>A (p.Pro180Thr) c.712C>A (p.Pro238Thr) c.649C>A (p.Pro217Thr) n.1014C>A c.745C>A (p.Pro249Thr) c.835C>A (p.Pro279Thr) c.*750C>A (n.*750C>A) c.*366C>A (n.*366C>A) c.769C>A (p.Pro257Thr) c.706C>A (p.Pro236Thr) c.775C>A (p.Pro259Thr) | |
| 1 | g.6474067G>A | CA415833930 | PLEKHG5 | c.537C>T (p.Pro179=) c.711C>T (p.Pro237=) c.648C>T (p.Pro216=) n.1013C>T c.744C>T (p.Pro248=) c.834C>T (p.Pro278=) c.*749C>T (n.*749C>T) c.*365C>T (n.*365C>T) c.768C>T (p.Pro256=) c.705C>T (p.Pro235=) c.774C>T (p.Pro258=) | gnomAD v4 |
| 1 | g.6474067G>C | CA415833931 | PLEKHG5 | c.537C>G (p.Pro179=) c.711C>G (p.Pro237=) c.648C>G (p.Pro216=) n.1013C>G c.744C>G (p.Pro248=) c.834C>G (p.Pro278=) c.*749C>G (n.*749C>G) c.*365C>G (n.*365C>G) c.768C>G (p.Pro256=) c.705C>G (p.Pro235=) c.774C>G (p.Pro258=) | gnomAD v4 |
| 1 | g.6474067G= | CA1144028778 | PLEKHG5 | c.537C= (p.Pro179=) c.711C= (p.Pro237=) c.648C= (p.Pro216=) n.1013C= c.744C= (p.Pro248=) c.834C= (p.Pro278=) c.*749C= (n.*749C=) c.*365C= (n.*365C=) c.768C= (p.Pro256=) c.705C= (p.Pro235=) c.774C= (p.Pro258=) | |
| 1 | g.6474067G>T | CA561819 | PLEKHG5 | c.537C>A (p.Pro179=) c.711C>A (p.Pro237=) c.648C>A (p.Pro216=) n.1013C>A c.744C>A (p.Pro248=) c.834C>A (p.Pro278=) c.*749C>A (n.*749C>A) c.*365C>A (n.*365C>A) c.768C>A (p.Pro256=) c.705C>A (p.Pro235=) c.774C>A (p.Pro258=) | ClinVar dbSNP ExAC gnomAD v2 |
| 1 | g.6474068G>A | CA338138591 | PLEKHG5 | c.536C>T (p.Pro179Leu) c.710C>T (p.Pro237Leu) c.647C>T (p.Pro216Leu) n.1012C>T c.743C>T (p.Pro248Leu) c.833C>T (p.Pro278Leu) c.*748C>T (n.*748C>T) c.*364C>T (n.*364C>T) c.767C>T (p.Pro256Leu) c.704C>T (p.Pro235Leu) c.773C>T (p.Pro258Leu) | |
| 1 | g.6474068G>C | CA338138593 | PLEKHG5 | c.536C>G (p.Pro179Arg) c.710C>G (p.Pro237Arg) c.647C>G (p.Pro216Arg) n.1012C>G c.743C>G (p.Pro248Arg) c.833C>G (p.Pro278Arg) c.*748C>G (n.*748C>G) c.*364C>G (n.*364C>G) c.767C>G (p.Pro256Arg) c.704C>G (p.Pro235Arg) c.773C>G (p.Pro258Arg) | |
| 1 | g.6474068G>T | CA338138594 | PLEKHG5 | c.536C>A (p.Pro179His) c.710C>A (p.Pro237His) c.647C>A (p.Pro216His) n.1012C>A c.743C>A (p.Pro248His) c.833C>A (p.Pro278His) c.*748C>A (n.*748C>A) c.*364C>A (n.*364C>A) c.767C>A (p.Pro256His) c.704C>A (p.Pro235His) c.773C>A (p.Pro258His) | |
| 1 | g.6474069G>A | CA338138596 | PLEKHG5 | c.535C>T (p.Pro179Ser) c.709C>T (p.Pro237Ser) c.646C>T (p.Pro216Ser) n.1011C>T c.742C>T (p.Pro248Ser) c.832C>T (p.Pro278Ser) c.*747C>T (n.*747C>T) c.*363C>T (n.*363C>T) c.766C>T (p.Pro256Ser) c.703C>T (p.Pro235Ser) c.772C>T (p.Pro258Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.6474069G>C | CA338138598 | PLEKHG5 | c.535C>G (p.Pro179Ala) c.709C>G (p.Pro237Ala) c.646C>G (p.Pro216Ala) n.1011C>G c.742C>G (p.Pro248Ala) c.832C>G (p.Pro278Ala) c.*747C>G (n.*747C>G) c.*363C>G (n.*363C>G) c.766C>G (p.Pro256Ala) c.703C>G (p.Pro235Ala) c.772C>G (p.Pro258Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.6474069G= | CA1151505840 | PLEKHG5 | c.535C= (p.Pro179=) c.709C= (p.Pro237=) c.646C= (p.Pro216=) n.1011C= c.742C= (p.Pro248=) c.832C= (p.Pro278=) c.*747C= (n.*747C=) c.*363C= (n.*363C=) c.766C= (p.Pro256=) c.703C= (p.Pro235=) c.772C= (p.Pro258=) | |
| 1 | g.6474069G>T | CA338138600 | PLEKHG5 | c.535C>A (p.Pro179Thr) c.709C>A (p.Pro237Thr) c.646C>A (p.Pro216Thr) n.1011C>A c.742C>A (p.Pro248Thr) c.832C>A (p.Pro278Thr) c.*747C>A (n.*747C>A) c.*363C>A (n.*363C>A) c.766C>A (p.Pro256Thr) c.703C>A (p.Pro235Thr) c.772C>A (p.Pro258Thr) | gnomAD v4 |
| 1 | g.6474070C>A | CA415833932 | PLEKHG5 | c.534G>T (p.Gly178=) c.708G>T (p.Gly236=) c.645G>T (p.Gly215=) n.1010G>T c.741G>T (p.Gly247=) c.831G>T (p.Gly277=) c.*746G>T (n.*746G>T) c.*362G>T (n.*362G>T) c.765G>T (p.Gly255=) c.702G>T (p.Gly234=) c.771G>T (p.Gly257=) | ClinVar dbSNP |
| 1 | g.6474070C= | CA1151505850 | PLEKHG5 | c.534G= (p.Gly178=) c.708G= (p.Gly236=) c.645G= (p.Gly215=) n.1010G= c.741G= (p.Gly247=) c.831G= (p.Gly277=) c.*746G= (n.*746G=) c.*362G= (n.*362G=) c.765G= (p.Gly255=) c.702G= (p.Gly234=) c.771G= (p.Gly257=) | |
| 1 | g.6474070C>G | CA415833934 | PLEKHG5 | c.534G>C (p.Gly178=) c.708G>C (p.Gly236=) c.645G>C (p.Gly215=) n.1010G>C c.741G>C (p.Gly247=) c.831G>C (p.Gly277=) c.*746G>C (n.*746G>C) c.*362G>C (n.*362G>C) c.765G>C (p.Gly255=) c.702G>C (p.Gly234=) c.771G>C (p.Gly257=) | gnomAD v4 |
| 1 | g.6474070C>T | CA415833933 | PLEKHG5 | c.534G>A (p.Gly178=) c.708G>A (p.Gly236=) c.645G>A (p.Gly215=) n.1010G>A c.741G>A (p.Gly247=) c.831G>A (p.Gly277=) c.*746G>A (n.*746G>A) c.*362G>A (n.*362G>A) c.765G>A (p.Gly255=) c.702G>A (p.Gly234=) c.771G>A (p.Gly257=) | gnomAD v4 |
| 1 | g.6474071C>A | CA338138604 | PLEKHG5 | c.533G>T (p.Gly178Val) c.707G>T (p.Gly236Val) c.644G>T (p.Gly215Val) n.1009G>T c.740G>T (p.Gly247Val) c.830G>T (p.Gly277Val) c.*745G>T (n.*745G>T) c.*361G>T (n.*361G>T) c.764G>T (p.Gly255Val) c.701G>T (p.Gly234Val) c.770G>T (p.Gly257Val) | |
| 1 | g.6474071C>G | CA338138605 | PLEKHG5 | c.533G>C (p.Gly178Ala) c.707G>C (p.Gly236Ala) c.644G>C (p.Gly215Ala) n.1009G>C c.740G>C (p.Gly247Ala) c.830G>C (p.Gly277Ala) c.*745G>C (n.*745G>C) c.*361G>C (n.*361G>C) c.764G>C (p.Gly255Ala) c.701G>C (p.Gly234Ala) c.770G>C (p.Gly257Ala) | |
| 1 | g.6474071C>T | CA338138602 | PLEKHG5 | c.533G>A (p.Gly178Glu) c.707G>A (p.Gly236Glu) c.644G>A (p.Gly215Glu) n.1009G>A c.740G>A (p.Gly247Glu) c.830G>A (p.Gly277Glu) c.*745G>A (n.*745G>A) c.*361G>A (n.*361G>A) c.764G>A (p.Gly255Glu) c.701G>A (p.Gly234Glu) c.770G>A (p.Gly257Glu) | |
| 1 | g.6474072C>A | CA338138609 | PLEKHG5 | c.532G>T (p.Gly178Trp) c.706G>T (p.Gly236Trp) c.643G>T (p.Gly215Trp) n.1008G>T c.739G>T (p.Gly247Trp) c.829G>T (p.Gly277Trp) c.*744G>T (n.*744G>T) c.*360G>T (n.*360G>T) c.763G>T (p.Gly255Trp) c.700G>T (p.Gly234Trp) c.769G>T (p.Gly257Trp) | COSMIC COSMIC COSMIC |
| 1 | g.6474072C= | CA1141931907 | PLEKHG5 | c.532G= (p.Gly178=) c.706G= (p.Gly236=) c.643G= (p.Gly215=) n.1008G= c.739G= (p.Gly247=) c.829G= (p.Gly277=) c.*744G= (n.*744G=) c.*360G= (n.*360G=) c.763G= (p.Gly255=) c.700G= (p.Gly234=) c.769G= (p.Gly257=) | |
| 1 | g.6474072C>G | CA561821 | PLEKHG5 | c.532G>C (p.Gly178Arg) c.706G>C (p.Gly236Arg) c.643G>C (p.Gly215Arg) n.1008G>C c.739G>C (p.Gly247Arg) c.829G>C (p.Gly277Arg) c.*744G>C (n.*744G>C) c.*360G>C (n.*360G>C) c.763G>C (p.Gly255Arg) c.700G>C (p.Gly234Arg) c.769G>C (p.Gly257Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6474072C>T | CA561820 | PLEKHG5 | c.532G>A (p.Gly178Arg) c.706G>A (p.Gly236Arg) c.643G>A (p.Gly215Arg) n.1008G>A c.739G>A (p.Gly247Arg) c.829G>A (p.Gly277Arg) c.*744G>A (n.*744G>A) c.*360G>A (n.*360G>A) c.763G>A (p.Gly255Arg) c.700G>A (p.Gly234Arg) c.769G>A (p.Gly257Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6474073G>A | CA561822 | PLEKHG5 | c.531C>T (p.Thr177=) c.705C>T (p.Thr235=) c.642C>T (p.Thr214=) n.1007C>T c.738C>T (p.Thr246=) c.828C>T (p.Thr276=) c.*743C>T (n.*743C>T) c.*359C>T (n.*359C>T) c.762C>T (p.Thr254=) c.699C>T (p.Thr233=) c.768C>T (p.Thr256=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6474073G>C | CA415833936 | PLEKHG5 | c.531C>G (p.Thr177=) c.705C>G (p.Thr235=) c.642C>G (p.Thr214=) n.1007C>G c.738C>G (p.Thr246=) c.828C>G (p.Thr276=) c.*743C>G (n.*743C>G) c.*359C>G (n.*359C>G) c.762C>G (p.Thr254=) c.699C>G (p.Thr233=) c.768C>G (p.Thr256=) | gnomAD v4 |
| 1 | g.6474073G= | CA1147267477 | PLEKHG5 | c.531C= (p.Thr177=) c.705C= (p.Thr235=) c.642C= (p.Thr214=) n.1007C= c.738C= (p.Thr246=) c.828C= (p.Thr276=) c.*743C= (n.*743C=) c.*359C= (n.*359C=) c.762C= (p.Thr254=) c.699C= (p.Thr233=) c.768C= (p.Thr256=) | |
| 1 | g.6474073G>T | CA415833937 | PLEKHG5 | c.531C>A (p.Thr177=) c.705C>A (p.Thr235=) c.642C>A (p.Thr214=) n.1007C>A c.738C>A (p.Thr246=) c.828C>A (p.Thr276=) c.*743C>A (n.*743C>A) c.*359C>A (n.*359C>A) c.762C>A (p.Thr254=) c.699C>A (p.Thr233=) c.768C>A (p.Thr256=) | |
| 1 | g.6474074G>A | CA338138613 | PLEKHG5 | c.530C>T (p.Thr177Ile) c.704C>T (p.Thr235Ile) c.641C>T (p.Thr214Ile) n.1006C>T c.737C>T (p.Thr246Ile) c.827C>T (p.Thr276Ile) c.*742C>T (n.*742C>T) c.*358C>T (n.*358C>T) c.761C>T (p.Thr254Ile) c.698C>T (p.Thr233Ile) c.767C>T (p.Thr256Ile) | |
| 1 | g.6474074G>C | CA338138614 | PLEKHG5 | c.530C>G (p.Thr177Ser) c.704C>G (p.Thr235Ser) c.641C>G (p.Thr214Ser) n.1006C>G c.737C>G (p.Thr246Ser) c.827C>G (p.Thr276Ser) c.*742C>G (n.*742C>G) c.*358C>G (n.*358C>G) c.761C>G (p.Thr254Ser) c.698C>G (p.Thr233Ser) c.767C>G (p.Thr256Ser) | |
| 1 | g.6474074G= | CA1151505864 | PLEKHG5 | c.530C= (p.Thr177=) c.704C= (p.Thr235=) c.641C= (p.Thr214=) n.1006C= c.737C= (p.Thr246=) c.827C= (p.Thr276=) c.*742C= (n.*742C=) c.*358C= (n.*358C=) c.761C= (p.Thr254=) c.698C= (p.Thr233=) c.767C= (p.Thr256=) | |
| 1 | g.6474074G>T | CA338138617 | PLEKHG5 | c.530C>A (p.Thr177Asn) c.704C>A (p.Thr235Asn) c.641C>A (p.Thr214Asn) n.1006C>A c.737C>A (p.Thr246Asn) c.827C>A (p.Thr276Asn) c.*742C>A (n.*742C>A) c.*358C>A (n.*358C>A) c.761C>A (p.Thr254Asn) c.698C>A (p.Thr233Asn) c.767C>A (p.Thr256Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6474075T>A | CA338138623 | PLEKHG5 | c.529A>T (p.Thr177Ser) c.703A>T (p.Thr235Ser) c.640A>T (p.Thr214Ser) n.1005A>T c.736A>T (p.Thr246Ser) c.826A>T (p.Thr276Ser) c.*741A>T (n.*741A>T) c.*357A>T (n.*357A>T) c.760A>T (p.Thr254Ser) c.697A>T (p.Thr233Ser) c.766A>T (p.Thr256Ser) | |
| 1 | g.6474075T>C | CA338138621 | PLEKHG5 | c.529A>G (p.Thr177Ala) c.703A>G (p.Thr235Ala) c.640A>G (p.Thr214Ala) n.1005A>G c.736A>G (p.Thr246Ala) c.826A>G (p.Thr276Ala) c.*741A>G (n.*741A>G) c.*357A>G (n.*357A>G) c.760A>G (p.Thr254Ala) c.697A>G (p.Thr233Ala) c.766A>G (p.Thr256Ala) | |
| 1 | g.6474075T>G | CA338138620 | PLEKHG5 | c.529A>C (p.Thr177Pro) c.703A>C (p.Thr235Pro) c.640A>C (p.Thr214Pro) n.1005A>C c.736A>C (p.Thr246Pro) c.826A>C (p.Thr276Pro) c.*741A>C (n.*741A>C) c.*357A>C (n.*357A>C) c.760A>C (p.Thr254Pro) c.697A>C (p.Thr233Pro) c.766A>C (p.Thr256Pro) | |
| 1 | g.6474076C>A | CA415833938 | PLEKHG5 | c.528G>T (p.Gly176=) c.702G>T (p.Gly234=) c.639G>T (p.Gly213=) n.1004G>T c.735G>T (p.Gly245=) c.825G>T (p.Gly275=) c.*740G>T (n.*740G>T) c.*356G>T (n.*356G>T) c.759G>T (p.Gly253=) c.696G>T (p.Gly232=) c.765G>T (p.Gly255=) | gnomAD v4 |