| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.6474478A= | CA1151506905 | PLEKHG5 | c.412T= (p.Phe138=) c.586T= (p.Phe196=) c.523T= (p.Phe175=) n.888T= c.619T= (p.Phe207=) c.709T= (p.Phe237=) c.*624T= (n.*624T=) c.*240T= (n.*240T=) c.374T= (n.374T=) c.643T= (p.Phe215=) c.580T= (p.Phe194=) c.649T= (p.Phe217=) | |
| 1 | g.6474478A>C | CA338139121 | PLEKHG5 | c.412T>G (p.Phe138Val) c.586T>G (p.Phe196Val) c.523T>G (p.Phe175Val) n.888T>G c.619T>G (p.Phe207Val) c.709T>G (p.Phe237Val) c.*624T>G (n.*624T>G) c.*240T>G (n.*240T>G) c.374T>G (n.374T>G) c.643T>G (p.Phe215Val) c.580T>G (p.Phe194Val) c.649T>G (p.Phe217Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6474478A>G | CA338139122 | PLEKHG5 | c.412T>C (p.Phe138Leu) c.586T>C (p.Phe196Leu) c.523T>C (p.Phe175Leu) n.888T>C c.619T>C (p.Phe207Leu) c.709T>C (p.Phe237Leu) c.*624T>C (n.*624T>C) c.*240T>C (n.*240T>C) c.374T>C (n.374T>C) c.643T>C (p.Phe215Leu) c.580T>C (p.Phe194Leu) c.649T>C (p.Phe217Leu) | ClinVar dbSNP |
| 1 | g.6474478A>T | CA338139124 | PLEKHG5 | c.412T>A (p.Phe138Ile) c.586T>A (p.Phe196Ile) c.523T>A (p.Phe175Ile) n.888T>A c.619T>A (p.Phe207Ile) c.709T>A (p.Phe237Ile) c.*624T>A (n.*624T>A) c.*240T>A (n.*240T>A) c.374T>A (n.374T>A) c.643T>A (p.Phe215Ile) c.580T>A (p.Phe194Ile) c.649T>A (p.Phe217Ile) | |
| 1 | g.6474479C>A | CA561870 | PLEKHG5 | c.411G>T (p.Arg137Ser) c.585G>T (p.Arg195Ser) c.522G>T (p.Arg174Ser) n.887G>T c.618G>T (p.Arg206Ser) c.708G>T (p.Arg236Ser) c.*623G>T (n.*623G>T) c.*239G>T (n.*239G>T) c.373G>T (n.373G>T) c.642G>T (p.Arg214Ser) c.579G>T (p.Arg193Ser) c.648G>T (p.Arg216Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6474479C= | CA1151506912 | PLEKHG5 | c.411G= (p.Arg137=) c.585G= (p.Arg195=) c.522G= (p.Arg174=) n.887G= c.618G= (p.Arg206=) c.708G= (p.Arg236=) c.*623G= (n.*623G=) c.*239G= (n.*239G=) c.373G= (n.373G=) c.642G= (p.Arg214=) c.579G= (p.Arg193=) c.648G= (p.Arg216=) | |
| 1 | g.6474479C>G | CA338139126 | PLEKHG5 | c.411G>C (p.Arg137Ser) c.585G>C (p.Arg195Ser) c.522G>C (p.Arg174Ser) n.887G>C c.618G>C (p.Arg206Ser) c.708G>C (p.Arg236Ser) c.*623G>C (n.*623G>C) c.*239G>C (n.*239G>C) c.373G>C (n.373G>C) c.642G>C (p.Arg214Ser) c.579G>C (p.Arg193Ser) c.648G>C (p.Arg216Ser) | |
| 1 | g.6474479C>T | CA415834109 | PLEKHG5 | c.411G>A (p.Arg137=) c.585G>A (p.Arg195=) c.522G>A (p.Arg174=) n.887G>A c.618G>A (p.Arg206=) c.708G>A (p.Arg236=) c.*623G>A (n.*623G>A) c.*239G>A (n.*239G>A) c.373G>A (n.373G>A) c.642G>A (p.Arg214=) c.579G>A (p.Arg193=) c.648G>A (p.Arg216=) | |
| 1 | g.6474480C>A | CA338139129 | PLEKHG5 | c.410G>T (p.Arg137Met) c.584G>T (p.Arg195Met) c.521G>T (p.Arg174Met) n.886G>T c.617G>T (p.Arg206Met) c.707G>T (p.Arg236Met) c.*622G>T (n.*622G>T) c.*238G>T (n.*238G>T) c.372G>T (n.372G>T) c.641G>T (p.Arg214Met) c.578G>T (p.Arg193Met) c.647G>T (p.Arg216Met) | |
| 1 | g.6474480C>G | CA338139132 | PLEKHG5 | c.410G>C (p.Arg137Thr) c.584G>C (p.Arg195Thr) c.521G>C (p.Arg174Thr) n.886G>C c.617G>C (p.Arg206Thr) c.707G>C (p.Arg236Thr) c.*622G>C (n.*622G>C) c.*238G>C (n.*238G>C) c.372G>C (n.372G>C) c.641G>C (p.Arg214Thr) c.578G>C (p.Arg193Thr) c.647G>C (p.Arg216Thr) | |
| 1 | g.6474480C>T | CA338139130 | PLEKHG5 | c.410G>A (p.Arg137Lys) c.584G>A (p.Arg195Lys) c.521G>A (p.Arg174Lys) n.886G>A c.617G>A (p.Arg206Lys) c.707G>A (p.Arg236Lys) c.*622G>A (n.*622G>A) c.*238G>A (n.*238G>A) c.372G>A (n.372G>A) c.641G>A (p.Arg214Lys) c.578G>A (p.Arg193Lys) c.647G>A (p.Arg216Lys) | |
| 1 | g.6474481T>A | CA338139133 | PLEKHG5 | c.409A>T (p.Arg137Trp) c.583A>T (p.Arg195Trp) c.520A>T (p.Arg174Trp) n.885A>T c.616A>T (p.Arg206Trp) c.706A>T (p.Arg236Trp) c.*621A>T (n.*621A>T) c.*237A>T (n.*237A>T) c.371A>T (n.371A>T) c.640A>T (p.Arg214Trp) c.577A>T (p.Arg193Trp) c.646A>T (p.Arg216Trp) | |
| 1 | g.6474481T>C | CA338139135 | PLEKHG5 | c.409A>G (p.Arg137Gly) c.583A>G (p.Arg195Gly) c.520A>G (p.Arg174Gly) n.885A>G c.616A>G (p.Arg206Gly) c.706A>G (p.Arg236Gly) c.*621A>G (n.*621A>G) c.*237A>G (n.*237A>G) c.371A>G (n.371A>G) c.640A>G (p.Arg214Gly) c.577A>G (p.Arg193Gly) c.646A>G (p.Arg216Gly) | |
| 1 | g.6474481T>G | CA415834110 | PLEKHG5 | c.409A>C (p.Arg137=) c.583A>C (p.Arg195=) c.520A>C (p.Arg174=) n.885A>C c.616A>C (p.Arg206=) c.706A>C (p.Arg236=) c.*621A>C (n.*621A>C) c.*237A>C (n.*237A>C) c.371A>C (n.371A>C) c.640A>C (p.Arg214=) c.577A>C (p.Arg193=) c.646A>C (p.Arg216=) | |
| 1 | g.6474482G>A | CA415834111 | PLEKHG5 | c.408C>T (p.Tyr136=) c.582C>T (p.Tyr194=) c.519C>T (p.Tyr173=) n.884C>T c.615C>T (p.Tyr205=) c.705C>T (p.Tyr235=) c.*620C>T (n.*620C>T) c.*236C>T (n.*236C>T) c.370C>T (n.370C>T) c.639C>T (p.Tyr213=) c.576C>T (p.Tyr192=) c.645C>T (p.Tyr215=) | |
| 1 | g.6474482G>C | CA338139138 | PLEKHG5 | c.408C>G (p.Tyr136Ter) c.582C>G (p.Tyr194Ter) c.519C>G (p.Tyr173Ter) n.884C>G c.615C>G (p.Tyr205Ter) c.705C>G (p.Tyr235Ter) c.*620C>G (n.*620C>G) c.*236C>G (n.*236C>G) c.370C>G (n.370C>G) c.639C>G (p.Tyr213Ter) c.576C>G (p.Tyr192Ter) c.645C>G (p.Tyr215Ter) | |
| 1 | g.6474482G>T | CA338139139 | PLEKHG5 | c.408C>A (p.Tyr136Ter) c.582C>A (p.Tyr194Ter) c.519C>A (p.Tyr173Ter) n.884C>A c.615C>A (p.Tyr205Ter) c.705C>A (p.Tyr235Ter) c.*620C>A (n.*620C>A) c.*236C>A (n.*236C>A) c.370C>A (n.370C>A) c.639C>A (p.Tyr213Ter) c.576C>A (p.Tyr192Ter) c.645C>A (p.Tyr215Ter) | |
| 1 | g.6474483T>A | CA338139142 | PLEKHG5 | c.407A>T (p.Tyr136Phe) c.581A>T (p.Tyr194Phe) c.518A>T (p.Tyr173Phe) n.883A>T c.614A>T (p.Tyr205Phe) c.704A>T (p.Tyr235Phe) c.*619A>T (n.*619A>T) c.*235A>T (n.*235A>T) c.369A>T (n.369A>T) c.638A>T (p.Tyr213Phe) c.575A>T (p.Tyr192Phe) c.644A>T (p.Tyr215Phe) | |
| 1 | g.6474483T>C | CA17243754 | PLEKHG5 | c.407A>G (p.Tyr136Cys) c.581A>G (p.Tyr194Cys) c.518A>G (p.Tyr173Cys) n.883A>G c.614A>G (p.Tyr205Cys) c.704A>G (p.Tyr235Cys) c.*619A>G (n.*619A>G) c.*235A>G (n.*235A>G) c.369A>G (n.369A>G) c.638A>G (p.Tyr213Cys) c.575A>G (p.Tyr192Cys) c.644A>G (p.Tyr215Cys) | ClinVar dbSNP gnomAD v4 |
| 1 | g.6474483T>G | CA338139143 | PLEKHG5 | c.407A>C (p.Tyr136Ser) c.581A>C (p.Tyr194Ser) c.518A>C (p.Tyr173Ser) n.883A>C c.614A>C (p.Tyr205Ser) c.704A>C (p.Tyr235Ser) c.*619A>C (n.*619A>C) c.*235A>C (n.*235A>C) c.369A>C (n.369A>C) c.638A>C (p.Tyr213Ser) c.575A>C (p.Tyr192Ser) c.644A>C (p.Tyr215Ser) | |
| 1 | g.6474483T= | CA1151506913 | PLEKHG5 | c.407A= (p.Tyr136=) c.581A= (p.Tyr194=) c.518A= (p.Tyr173=) n.883A= c.614A= (p.Tyr205=) c.704A= (p.Tyr235=) c.*619A= (n.*619A=) c.*235A= (n.*235A=) c.369A= (n.369A=) c.638A= (p.Tyr213=) c.575A= (p.Tyr192=) c.644A= (p.Tyr215=) | |
| 1 | g.6474484A>C | CA338139146 | PLEKHG5 | c.406T>G (p.Tyr136Asp) c.580T>G (p.Tyr194Asp) c.517T>G (p.Tyr173Asp) n.882T>G c.613T>G (p.Tyr205Asp) c.703T>G (p.Tyr235Asp) c.*618T>G (n.*618T>G) c.*234T>G (n.*234T>G) c.368T>G (n.368T>G) c.637T>G (p.Tyr213Asp) c.574T>G (p.Tyr192Asp) c.643T>G (p.Tyr215Asp) | |
| 1 | g.6474484A>G | CA338139149 | PLEKHG5 | c.406T>C (p.Tyr136His) c.580T>C (p.Tyr194His) c.517T>C (p.Tyr173His) n.882T>C c.613T>C (p.Tyr205His) c.703T>C (p.Tyr235His) c.*618T>C (n.*618T>C) c.*234T>C (n.*234T>C) c.368T>C (n.368T>C) c.637T>C (p.Tyr213His) c.574T>C (p.Tyr192His) c.643T>C (p.Tyr215His) | |
| 1 | g.6474484A>T | CA338139150 | PLEKHG5 | c.406T>A (p.Tyr136Asn) c.580T>A (p.Tyr194Asn) c.517T>A (p.Tyr173Asn) n.882T>A c.613T>A (p.Tyr205Asn) c.703T>A (p.Tyr235Asn) c.*618T>A (n.*618T>A) c.*234T>A (n.*234T>A) c.368T>A (n.368T>A) c.637T>A (p.Tyr213Asn) c.574T>A (p.Tyr192Asn) c.643T>A (p.Tyr215Asn) | |
| 1 | g.6474485G>A | CA415834112 | PLEKHG5 | c.405C>T (p.Ala135=) c.579C>T (p.Ala193=) c.516C>T (p.Ala172=) n.881C>T c.612C>T (p.Ala204=) c.702C>T (p.Ala234=) c.*617C>T (n.*617C>T) c.*233C>T (n.*233C>T) c.367C>T (n.367C>T) c.636C>T (p.Ala212=) c.573C>T (p.Ala191=) c.642C>T (p.Ala214=) | |
| 1 | g.6474485G>C | CA415834113 | PLEKHG5 | c.405C>G (p.Ala135=) c.579C>G (p.Ala193=) c.516C>G (p.Ala172=) n.881C>G c.612C>G (p.Ala204=) c.702C>G (p.Ala234=) c.*617C>G (n.*617C>G) c.*233C>G (n.*233C>G) c.367C>G (n.367C>G) c.636C>G (p.Ala212=) c.573C>G (p.Ala191=) c.642C>G (p.Ala214=) | |
| 1 | g.6474485G>T | CA415834114 | PLEKHG5 | c.405C>A (p.Ala135=) c.579C>A (p.Ala193=) c.516C>A (p.Ala172=) n.881C>A c.612C>A (p.Ala204=) c.702C>A (p.Ala234=) c.*617C>A (n.*617C>A) c.*233C>A (n.*233C>A) c.367C>A (n.367C>A) c.636C>A (p.Ala212=) c.573C>A (p.Ala191=) c.642C>A (p.Ala214=) | |
| 1 | g.6474486G>A | CA338139154 | PLEKHG5 | c.404C>T (p.Ala135Val) c.578C>T (p.Ala193Val) c.515C>T (p.Ala172Val) n.880C>T c.611C>T (p.Ala204Val) c.701C>T (p.Ala234Val) c.*616C>T (n.*616C>T) c.*232C>T (n.*232C>T) c.366C>T (n.366C>T) c.635C>T (p.Ala212Val) c.572C>T (p.Ala191Val) c.641C>T (p.Ala214Val) | gnomAD v4 |
| 1 | g.6474486G>C | CA338139155 | PLEKHG5 | c.404C>G (p.Ala135Gly) c.578C>G (p.Ala193Gly) c.515C>G (p.Ala172Gly) n.880C>G c.611C>G (p.Ala204Gly) c.701C>G (p.Ala234Gly) c.*616C>G (n.*616C>G) c.*232C>G (n.*232C>G) c.366C>G (n.366C>G) c.635C>G (p.Ala212Gly) c.572C>G (p.Ala191Gly) c.641C>G (p.Ala214Gly) | |
| 1 | g.6474486G>T | CA338139157 | PLEKHG5 | c.404C>A (p.Ala135Asp) c.578C>A (p.Ala193Asp) c.515C>A (p.Ala172Asp) n.880C>A c.611C>A (p.Ala204Asp) c.701C>A (p.Ala234Asp) c.*616C>A (n.*616C>A) c.*232C>A (n.*232C>A) c.366C>A (n.366C>A) c.635C>A (p.Ala212Asp) c.572C>A (p.Ala191Asp) c.641C>A (p.Ala214Asp) | |
| 1 | g.6474487C>A | CA338139159 | PLEKHG5 | c.403G>T (p.Ala135Ser) c.577G>T (p.Ala193Ser) c.514G>T (p.Ala172Ser) n.879G>T c.610G>T (p.Ala204Ser) c.700G>T (p.Ala234Ser) c.*615G>T (n.*615G>T) c.*231G>T (n.*231G>T) c.365G>T (n.365G>T) c.634G>T (p.Ala212Ser) c.571G>T (p.Ala191Ser) c.640G>T (p.Ala214Ser) | |
| 1 | g.6474487C>G | CA338139161 | PLEKHG5 | c.403G>C (p.Ala135Pro) c.577G>C (p.Ala193Pro) c.514G>C (p.Ala172Pro) n.879G>C c.610G>C (p.Ala204Pro) c.700G>C (p.Ala234Pro) c.*615G>C (n.*615G>C) c.*231G>C (n.*231G>C) c.365G>C (n.365G>C) c.634G>C (p.Ala212Pro) c.571G>C (p.Ala191Pro) c.640G>C (p.Ala214Pro) | |
| 1 | g.6474487C>T | CA338139162 | PLEKHG5 | c.403G>A (p.Ala135Thr) c.577G>A (p.Ala193Thr) c.514G>A (p.Ala172Thr) n.879G>A c.610G>A (p.Ala204Thr) c.700G>A (p.Ala234Thr) c.*615G>A (n.*615G>A) c.*231G>A (n.*231G>A) c.365G>A (n.365G>A) c.634G>A (p.Ala212Thr) c.571G>A (p.Ala191Thr) c.640G>A (p.Ala214Thr) | |
| 1 | g.6474488C>A | CA338139165 | PLEKHG5 | c.402G>T (p.Glu134Asp) c.576G>T (p.Glu192Asp) c.513G>T (p.Glu171Asp) n.878G>T c.609G>T (p.Glu203Asp) c.699G>T (p.Glu233Asp) c.*614G>T (n.*614G>T) c.*230G>T (n.*230G>T) c.364G>T (n.364G>T) c.633G>T (p.Glu211Asp) c.570G>T (p.Glu190Asp) c.639G>T (p.Glu213Asp) | |
| 1 | g.6474488C>G | CA338139167 | PLEKHG5 | c.402G>C (p.Glu134Asp) c.576G>C (p.Glu192Asp) c.513G>C (p.Glu171Asp) n.878G>C c.609G>C (p.Glu203Asp) c.699G>C (p.Glu233Asp) c.*614G>C (n.*614G>C) c.*230G>C (n.*230G>C) c.364G>C (n.364G>C) c.633G>C (p.Glu211Asp) c.570G>C (p.Glu190Asp) c.639G>C (p.Glu213Asp) | |
| 1 | g.6474488C>T | CA415834115 | PLEKHG5 | c.402G>A (p.Glu134=) c.576G>A (p.Glu192=) c.513G>A (p.Glu171=) n.878G>A c.609G>A (p.Glu203=) c.699G>A (p.Glu233=) c.*614G>A (n.*614G>A) c.*230G>A (n.*230G>A) c.364G>A (n.364G>A) c.633G>A (p.Glu211=) c.570G>A (p.Glu190=) c.639G>A (p.Glu213=) | gnomAD v4 |
| 1 | g.6474489T>A | CA338139176 | PLEKHG5 | c.401A>T (p.Glu134Val) c.575A>T (p.Glu192Val) c.512A>T (p.Glu171Val) n.877A>T c.608A>T (p.Glu203Val) c.698A>T (p.Glu233Val) c.*613A>T (n.*613A>T) c.*229A>T (n.*229A>T) c.363A>T (n.363A>T) c.632A>T (p.Glu211Val) c.569A>T (p.Glu190Val) c.638A>T (p.Glu213Val) | |
| 1 | g.6474489T>C | CA338139171 | PLEKHG5 | c.401A>G (p.Glu134Gly) c.575A>G (p.Glu192Gly) c.512A>G (p.Glu171Gly) n.877A>G c.608A>G (p.Glu203Gly) c.698A>G (p.Glu233Gly) c.*613A>G (n.*613A>G) c.*229A>G (n.*229A>G) c.363A>G (n.363A>G) c.632A>G (p.Glu211Gly) c.569A>G (p.Glu190Gly) c.638A>G (p.Glu213Gly) | |
| 1 | g.6474489T>G | CA338139169 | PLEKHG5 | c.401A>C (p.Glu134Ala) c.575A>C (p.Glu192Ala) c.512A>C (p.Glu171Ala) n.877A>C c.608A>C (p.Glu203Ala) c.698A>C (p.Glu233Ala) c.*613A>C (n.*613A>C) c.*229A>C (n.*229A>C) c.363A>C (n.363A>C) c.632A>C (p.Glu211Ala) c.569A>C (p.Glu190Ala) c.638A>C (p.Glu213Ala) | |
| 1 | g.6474490C>A | CA338139178 | PLEKHG5 | c.400G>T (p.Glu134Ter) c.574G>T (p.Glu192Ter) c.511G>T (p.Glu171Ter) n.876G>T c.607G>T (p.Glu203Ter) c.697G>T (p.Glu233Ter) c.*612G>T (n.*612G>T) c.*228G>T (n.*228G>T) c.362G>T (n.362G>T) c.631G>T (p.Glu211Ter) c.568G>T (p.Glu190Ter) c.637G>T (p.Glu213Ter) | |
| 1 | g.6474490C= | CA1151506919 | PLEKHG5 | c.400G= (p.Glu134=) c.574G= (p.Glu192=) c.511G= (p.Glu171=) n.876G= c.607G= (p.Glu203=) c.697G= (p.Glu233=) c.*612G= (n.*612G=) c.*228G= (n.*228G=) c.362G= (n.362G=) c.631G= (p.Glu211=) c.568G= (p.Glu190=) c.637G= (p.Glu213=) | |
| 1 | g.6474490C>G | CA338139179 | PLEKHG5 | c.400G>C (p.Glu134Gln) c.574G>C (p.Glu192Gln) c.511G>C (p.Glu171Gln) n.876G>C c.607G>C (p.Glu203Gln) c.697G>C (p.Glu233Gln) c.*612G>C (n.*612G>C) c.*228G>C (n.*228G>C) c.362G>C (n.362G>C) c.631G>C (p.Glu211Gln) c.568G>C (p.Glu190Gln) c.637G>C (p.Glu213Gln) | |
| 1 | g.6474490C>T | CA561871 | PLEKHG5 | c.400G>A (p.Glu134Lys) c.574G>A (p.Glu192Lys) c.511G>A (p.Glu171Lys) n.876G>A c.607G>A (p.Glu203Lys) c.697G>A (p.Glu233Lys) c.*612G>A (n.*612G>A) c.*228G>A (n.*228G>A) c.362G>A (n.362G>A) c.631G>A (p.Glu211Lys) c.568G>A (p.Glu190Lys) c.637G>A (p.Glu213Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6474491G>A | CA561872 | PLEKHG5 | c.399C>T (p.Phe133=) c.573C>T (p.Phe191=) c.510C>T (p.Phe170=) n.875C>T c.606C>T (p.Phe202=) c.696C>T (p.Phe232=) c.*611C>T (n.*611C>T) c.*227C>T (n.*227C>T) c.361C>T (n.361C>T) c.630C>T (p.Phe210=) c.567C>T (p.Phe189=) c.636C>T (p.Phe212=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6474491G>C | CA338139180 | PLEKHG5 | c.399C>G (p.Phe133Leu) c.573C>G (p.Phe191Leu) c.510C>G (p.Phe170Leu) n.875C>G c.606C>G (p.Phe202Leu) c.696C>G (p.Phe232Leu) c.*611C>G (n.*611C>G) c.*227C>G (n.*227C>G) c.361C>G (n.361C>G) c.630C>G (p.Phe210Leu) c.567C>G (p.Phe189Leu) c.636C>G (p.Phe212Leu) | |
| 1 | g.6474491G= | CA1143692785 | PLEKHG5 | c.399C= (p.Phe133=) c.573C= (p.Phe191=) c.510C= (p.Phe170=) n.875C= c.606C= (p.Phe202=) c.696C= (p.Phe232=) c.*611C= (n.*611C=) c.*227C= (n.*227C=) c.361C= (n.361C=) c.630C= (p.Phe210=) c.567C= (p.Phe189=) c.636C= (p.Phe212=) | |
| 1 | g.6474491G>T | CA338139181 | PLEKHG5 | c.399C>A (p.Phe133Leu) c.573C>A (p.Phe191Leu) c.510C>A (p.Phe170Leu) n.875C>A c.606C>A (p.Phe202Leu) c.696C>A (p.Phe232Leu) c.*611C>A (n.*611C>A) c.*227C>A (n.*227C>A) c.361C>A (n.361C>A) c.630C>A (p.Phe210Leu) c.567C>A (p.Phe189Leu) c.636C>A (p.Phe212Leu) | gnomAD v4 |
| 1 | g.6474492A>C | CA338139184 | PLEKHG5 | c.398T>G (p.Phe133Cys) c.572T>G (p.Phe191Cys) c.509T>G (p.Phe170Cys) n.874T>G c.605T>G (p.Phe202Cys) c.695T>G (p.Phe232Cys) c.*610T>G (n.*610T>G) c.*226T>G (n.*226T>G) c.360T>G (n.360T>G) c.629T>G (p.Phe210Cys) c.566T>G (p.Phe189Cys) c.635T>G (p.Phe212Cys) | |
| 1 | g.6474492A>G | CA338139186 | PLEKHG5 | c.398T>C (p.Phe133Ser) c.572T>C (p.Phe191Ser) c.509T>C (p.Phe170Ser) n.874T>C c.605T>C (p.Phe202Ser) c.695T>C (p.Phe232Ser) c.*610T>C (n.*610T>C) c.*226T>C (n.*226T>C) c.360T>C (n.360T>C) c.629T>C (p.Phe210Ser) c.566T>C (p.Phe189Ser) c.635T>C (p.Phe212Ser) | |
| 1 | g.6474492A>T | CA338139187 | PLEKHG5 | c.398T>A (p.Phe133Tyr) c.572T>A (p.Phe191Tyr) c.509T>A (p.Phe170Tyr) n.874T>A c.605T>A (p.Phe202Tyr) c.695T>A (p.Phe232Tyr) c.*610T>A (n.*610T>A) c.*226T>A (n.*226T>A) c.360T>A (n.360T>A) c.629T>A (p.Phe210Tyr) c.566T>A (p.Phe189Tyr) c.635T>A (p.Phe212Tyr) |