| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.119672256_119677283del | CA1139532250 | BAG3 | c.509_*1del | |
| 10 | g.119672273G>A | CA378295269 | BAG3 | c.526G>A (p.Ala176Thr) c.352G>A (p.Ala118Thr) | |
| 10 | g.119672273G>C | CA378295270 | BAG3 | c.526G>C (p.Ala176Pro) c.352G>C (p.Ala118Pro) | |
| 10 | g.119672273G= | CA1940193043 | BAG3 | c.526G= (p.Ala176=) c.352G= (p.Ala118=) | |
| 10 | g.119672273G>T | CA378295271 | BAG3 | c.526G>T (p.Ala176Ser) c.352G>T (p.Ala118Ser) | dbSNP |
| 10 | g.119672274C>A | CA378295274 | BAG3 | c.527C>A (p.Ala176Asp) c.353C>A (p.Ala118Asp) | |
| 10 | g.119672274C= | CA1940193045 | BAG3 | c.527C= (p.Ala176=) c.353C= (p.Ala118=) | |
| 10 | g.119672274C>G | CA378295273 | BAG3 | c.527C>G (p.Ala176Gly) c.353C>G (p.Ala118Gly) | |
| 10 | g.119672274C>T | CA378295272 | BAG3 | c.527C>T (p.Ala176Val) c.353C>T (p.Ala118Val) | dbSNP |
| 10 | g.119672275C>A | CA471739158 | BAG3 | c.528C>A (p.Ala176=) c.354C>A (p.Ala118=) | |
| 10 | g.119672275C= | CA1940193047 | BAG3 | c.528C= (p.Ala176=) c.354C= (p.Ala118=) | |
| 10 | g.119672275C>G | CA471739159 | BAG3 | c.528C>G (p.Ala176=) c.354C>G (p.Ala118=) | |
| 10 | g.119672275C>T | CA214221638 | BAG3 | c.528C>T (p.Ala176=) c.354C>T (p.Ala118=) | ClinVar dbSNP gnomAD v4 |
| 10 | g.119672277_119672278del | CA2580616877 | BAG3 | c.530_531del (p.Ser177Ter) c.356_357del (p.Ser119Ter) | ClinVar dbSNP |
| 10 | g.119672276T>A | CA378295276 | BAG3 | c.529T>A (p.Ser177Thr) c.355T>A (p.Ser119Thr) | |
| 10 | g.119672276T>C | CA378295275 | BAG3 | c.529T>C (p.Ser177Pro) c.355T>C (p.Ser119Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672276T>G | CA378295277 | BAG3 | c.529T>G (p.Ser177Ala) c.355T>G (p.Ser119Ala) | |
| 10 | g.119672276T= | CA1940193050 | BAG3 | c.529T= (p.Ser177=) c.355T= (p.Ser119=) | |
| 10 | g.119672277C>A | CA378295278 | BAG3 | c.530C>A (p.Ser177Tyr) c.356C>A (p.Ser119Tyr) | |
| 10 | g.119672277C>G | CA378295279 | BAG3 | c.530C>G (p.Ser177Cys) c.356C>G (p.Ser119Cys) | |
| 10 | g.119672277C>T | CA378295280 | BAG3 | c.530C>T (p.Ser177Phe) c.356C>T (p.Ser119Phe) | |
| 10 | g.119672278T>A | CA471739160 | BAG3 | c.531T>A (p.Ser177=) c.357T>A (p.Ser119=) | |
| 10 | g.119672278T>C | CA471739161 | BAG3 | c.531T>C (p.Ser177=) c.357T>C (p.Ser119=) | dbSNP |
| 10 | g.119672278T>G | CA471739162 | BAG3 | c.531T>G (p.Ser177=) c.357T>G (p.Ser119=) | |
| 10 | g.119672278dup | CA1139532241 | BAG3 | c.531dup (p.Asp178Ter) c.357dup (p.Asp120Ter) | dbSNP |
| 10 | g.119672279G>A | CA378295281 | BAG3 | c.532G>A (p.Asp178Asn) c.358G>A (p.Asp120Asn) | |
| 10 | g.119672279G>C | CA378295282 | BAG3 | c.532G>C (p.Asp178His) c.358G>C (p.Asp120His) | |
| 10 | g.119672279G>T | CA378295283 | BAG3 | c.532G>T (p.Asp178Tyr) c.358G>T (p.Asp120Tyr) | |
| 10 | g.119672280A>C | CA378295286 | BAG3 | c.533A>C (p.Asp178Ala) c.359A>C (p.Asp120Ala) | |
| 10 | g.119672280A>G | CA378295284 | BAG3 | c.533A>G (p.Asp178Gly) c.359A>G (p.Asp120Gly) | ClinVar |
| 10 | g.119672280A>T | CA378295285 | BAG3 | c.533A>T (p.Asp178Val) c.359A>T (p.Asp120Val) | |
| 10 | g.119672281C>A | CA378295287 | BAG3 | c.534C>A (p.Asp178Glu) c.360C>A (p.Asp120Glu) | |
| 10 | g.119672281C= | CA1940193053 | BAG3 | c.534C= (p.Asp178=) c.360C= (p.Asp120=) | |
| 10 | g.119672281C>G | CA378295288 | BAG3 | c.534C>G (p.Asp178Glu) c.360C>G (p.Asp120Glu) | ClinVar dbSNP |
| 10 | g.119672281C>T | CA471739163 | BAG3 | c.534C>T (p.Asp178=) c.360C>T (p.Asp120=) | |
| 10 | g.119672282T>A | CA378295289 | BAG3 | c.535T>A (p.Cys179Ser) c.361T>A (p.Cys121Ser) | ClinVar |
| 10 | g.119672282T>C | CA378295290 | BAG3 | c.535T>C (p.Cys179Arg) c.361T>C (p.Cys121Arg) | |
| 10 | g.119672282T>G | CA378295291 | BAG3 | c.535T>G (p.Cys179Gly) c.361T>G (p.Cys121Gly) | |
| 10 | g.119672283G>A | CA5716363 | BAG3 | c.536G>A (p.Cys179Tyr) c.362G>A (p.Cys121Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119672283G>C | CA378295293 | BAG3 | c.536G>C (p.Cys179Ser) c.362G>C (p.Cys121Ser) | |
| 10 | g.119672283G= | CA1940193056 | BAG3 | c.536G= (p.Cys179=) c.362G= (p.Cys121=) | |
| 10 | g.119672283G>T | CA378295292 | BAG3 | c.536G>T (p.Cys179Phe) c.362G>T (p.Cys121Phe) | |
| 10 | g.119672284C>A | CA378295294 | BAG3 | c.537C>A (p.Cys179Ter) c.363C>A (p.Cys121Ter) | ClinVar dbSNP |
| 10 | g.119672284C= | CA1940193060 | BAG3 | c.537C= (p.Cys179=) c.363C= (p.Cys121=) | |
| 10 | g.119672284C>G | CA378295295 | BAG3 | c.537C>G (p.Cys179Trp) c.363C>G (p.Cys121Trp) | ClinVar dbSNP gnomAD v4 |
| 10 | g.119672284C>T | CA471739164 | BAG3 | c.537C>T (p.Cys179=) c.363C>T (p.Cys121=) | |
| 10 | g.119672293_119672298dup | CA2611160105 | BAG3 | c.546_551dup (p.Ser184_Ser185insSerSer) c.372_377dup (p.Ser126_Ser127insSerSer) | gnomAD v4 |
| 10 | g.119672285T>A | CA378295296 | BAG3 | c.538T>A (p.Ser180Thr) c.364T>A (p.Ser122Thr) | |
| 10 | g.119672285T>C | CA378295297 | BAG3 | c.538T>C (p.Ser180Pro) c.364T>C (p.Ser122Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119672285T>G | CA378295298 | BAG3 | c.538T>G (p.Ser180Ala) c.364T>G (p.Ser122Ala) | ClinVar |