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 |
|---|---|---|---|---|---|
| 10 | g.119672241_119672261del | CA2573145586 | BAG3 | c.508-14_514del c.334-14_340del | ClinVar dbSNP |
| 10 | g.119672251_119672266dup | CA1940192978 | BAG3 | c.508-4_519dup c.334-4_345dup | ClinVar dbSNP |
| 10 | g.119672252C>A | CA596578065 | BAG3 | c.508-3C>A (n.508-3C>A) c.334-3C>A (n.334-3C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119672252C= | CA1940192991 | BAG3 | c.508-3C= (n.508-3C=) c.334-3C= (n.334-3C=) | |
| 10 | g.119672252C>G | CA2573145587 | BAG3 | c.508-3C>G (n.508-3C>G) c.334-3C>G (n.334-3C>G) | ClinVar dbSNP |
| 10 | g.119672252C>T | CA2611160104 | BAG3 | c.508-3C>T (n.508-3C>T) c.334-3C>T (n.334-3C>T) | gnomAD v4 |
| 10 | g.119672253A>C | CA378295232 | BAG3 | c.508-2A>C (n.508-2A>C) c.334-2A>C (n.334-2A>C) | |
| 10 | g.119672253A>G | CA378295233 | BAG3 | c.508-2A>G (n.508-2A>G) c.334-2A>G (n.334-2A>G) | dbSNP |
| 10 | g.119672253A>T | CA378295234 | BAG3 | c.508-2A>T (n.508-2A>T) c.334-2A>T (n.334-2A>T) | |
| 10 | g.119672256_119677283del | CA1139532250 | BAG3 | c.509_*1del | |
| 10 | g.119672254G>A | CA378295237 | BAG3 | c.508-1G>A (n.508-1G>A) c.334-1G>A (n.334-1G>A) | ClinVar |
| 10 | g.119672254G>C | CA378295236 | BAG3 | c.508-1G>C (n.508-1G>C) c.334-1G>C (n.334-1G>C) | |
| 10 | g.119672254G>T | CA378295235 | BAG3 | c.508-1G>T (n.508-1G>T) c.334-1G>T (n.334-1G>T) | gnomAD v4 |
| 10 | g.119672255_119672256del | CA2573053244 | BAG3 | c.508_509del c.334_335del | dbSNP |
| 10 | g.119672255C>A | CA471739143 | BAG3 | c.508C>A (p.Arg170=) c.334C>A (p.Arg112=) | gnomAD v4 |
| 10 | g.119672255C= | CA1940192994 | BAG3 | c.508C= (p.Arg170=) c.334C= (p.Arg112=) | |
| 10 | g.119672255C>G | CA5716358 | BAG3 | c.508C>G (p.Arg170Gly) c.334C>G (p.Arg112Gly) | dbSNP ExAC gnomAD v2 |
| 10 | g.119672255C>T | CA237046 | BAG3 | c.508C>T (p.Arg170Trp) c.334C>T (p.Arg112Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.119672256G>A | CA5716359 | BAG3 | c.509G>A (p.Arg170Gln) c.335G>A (p.Arg112Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672256G>C | CA378295238 | BAG3 | c.509G>C (p.Arg170Pro) c.335G>C (p.Arg112Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119672256G= | CA1940193000 | BAG3 | c.509G= (p.Arg170=) c.335G= (p.Arg112=) | |
| 10 | g.119672256G>T | CA378295239 | BAG3 | c.509G>T (p.Arg170Leu) c.335G>T (p.Arg112Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119672257G>A | CA471739144 | BAG3 | c.510G>A (p.Arg170=) c.336G>A (p.Arg112=) | |
| 10 | g.119672257G>C | CA471739145 | BAG3 | c.510G>C (p.Arg170=) c.336G>C (p.Arg112=) | |
| 10 | g.119672257G>T | CA471739146 | BAG3 | c.510G>T (p.Arg170=) c.336G>T (p.Arg112=) | gnomAD v4 |
| 10 | g.119672258T>A | CA378295240 | BAG3 | c.511T>A (p.Ser171Thr) c.337T>A (p.Ser113Thr) | |
| 10 | g.119672258T>C | CA378295241 | BAG3 | c.511T>C (p.Ser171Pro) c.337T>C (p.Ser113Pro) | |
| 10 | g.119672258T>G | CA378295242 | BAG3 | c.511T>G (p.Ser171Ala) c.337T>G (p.Ser113Ala) | |
| 10 | g.119672259C>A | CA378295243 | BAG3 | c.512C>A (p.Ser171Tyr) c.338C>A (p.Ser113Tyr) | ClinVar dbSNP |
| 10 | g.119672259C= | CA1940193004 | BAG3 | c.512C= (p.Ser171=) c.338C= (p.Ser113=) | |
| 10 | g.119672259C>G | CA378295244 | BAG3 | c.512C>G (p.Ser171Cys) c.338C>G (p.Ser113Cys) | |
| 10 | g.119672259C>T | CA308225 | BAG3 | c.512C>T (p.Ser171Phe) c.338C>T (p.Ser113Phe) | ClinVar dbSNP gnomAD v4 |
| 10 | g.119672260C>A | CA471739148 | BAG3 | c.513C>A (p.Ser171=) c.339C>A (p.Ser113=) | |
| 10 | g.119672260C= | CA1940193009 | BAG3 | c.513C= (p.Ser171=) c.339C= (p.Ser113=) | |
| 10 | g.119672260C>G | CA471739147 | BAG3 | c.513C>G (p.Ser171=) c.339C>G (p.Ser113=) | |
| 10 | g.119672260C>T | CA5716360 | BAG3 | c.513C>T (p.Ser171=) c.339C>T (p.Ser113=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119672261C>A | CA378295247 | BAG3 | c.514C>A (p.Gln172Lys) c.340C>A (p.Gln114Lys) | |
| 10 | g.119672261C= | CA1940193014 | BAG3 | c.514C= (p.Gln172=) c.340C= (p.Gln114=) | |
| 10 | g.119672261C>G | CA378295246 | BAG3 | c.514C>G (p.Gln172Glu) c.340C>G (p.Gln114Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119672261C>T | CA378295245 | BAG3 | c.514C>T (p.Gln172Ter) c.340C>T (p.Gln114Ter) | ClinVar dbSNP |
| 10 | g.119672262A= | CA1940193018 | BAG3 | c.515A= (p.Gln172=) c.341A= (p.Gln114=) | |
| 10 | g.119672262A>C | CA378295248 | BAG3 | c.515A>C (p.Gln172Pro) c.341A>C (p.Gln114Pro) | |
| 10 | g.119672262A>G | CA378295249 | BAG3 | c.515A>G (p.Gln172Arg) c.341A>G (p.Gln114Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119672262A>T | CA378295250 | BAG3 | c.515A>T (p.Gln172Leu) c.341A>T (p.Gln114Leu) | |
| 10 | g.119672263G>A | CA5716361 | BAG3 | c.516G>A (p.Gln172=) c.342G>A (p.Gln114=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119672263G>C | CA378295251 | BAG3 | c.516G>C (p.Gln172His) c.342G>C (p.Gln114His) | |
| 10 | g.119672263G= | CA1940193023 | BAG3 | c.516G= (p.Gln172=) c.342G= (p.Gln114=) | |
| 10 | g.119672263G>T | CA378295252 | BAG3 | c.516G>T (p.Gln172His) c.342G>T (p.Gln114His) | |
| 10 | g.119672264T>A | CA378295253 | BAG3 | c.517T>A (p.Ser173Thr) c.343T>A (p.Ser115Thr) | |
| 10 | g.119672264T>C | CA378295254 | BAG3 | c.517T>C (p.Ser173Pro) c.343T>C (p.Ser115Pro) | |
| 10 | g.119672264T>G | CA378295255 | BAG3 | c.517T>G (p.Ser173Ala) c.343T>G (p.Ser115Ala) | |
| 10 | g.119672265C>A | CA378295256 | BAG3 | c.518C>A (p.Ser173Tyr) c.344C>A (p.Ser115Tyr) | |
| 10 | g.119672265C= | CA1940193025 | BAG3 | c.518C= (p.Ser173=) c.344C= (p.Ser115=) | |
| 10 | g.119672265C>G | CA5716362 | BAG3 | c.518C>G (p.Ser173Cys) c.344C>G (p.Ser115Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119672265C>T | CA378295257 | BAG3 | c.518C>T (p.Ser173Phe) c.344C>T (p.Ser115Phe) | |
| 10 | g.119672266T>A | CA471739149 | BAG3 | c.519T>A (p.Ser173=) c.345T>A (p.Ser115=) | ClinVar |
| 10 | g.119672266T>C | CA471739150 | BAG3 | c.519T>C (p.Ser173=) c.345T>C (p.Ser115=) | |
| 10 | g.119672266T>G | CA471739151 | BAG3 | c.519T>G (p.Ser173=) c.345T>G (p.Ser115=) | |
| 10 | g.119672267C>A | CA378295259 | BAG3 | c.520C>A (p.Pro174Thr) c.346C>A (p.Pro116Thr) | |
| 10 | g.119672267C= | CA1940193031 | BAG3 | c.520C= (p.Pro174=) c.346C= (p.Pro116=) | |
| 10 | g.119672267C>G | CA378295258 | BAG3 | c.520C>G (p.Pro174Ala) c.346C>G (p.Pro116Ala) | ClinVar |
| 10 | g.119672267C>T | CA16622105 | BAG3 | c.520C>T (p.Pro174Ser) c.346C>T (p.Pro116Ser) | ClinVar dbSNP gnomAD v4 |
| 10 | g.119672268C>A | CA378295260 | BAG3 | c.521C>A (p.Pro174Gln) c.347C>A (p.Pro116Gln) | |
| 10 | g.119672268C= | CA1940193033 | BAG3 | c.521C= (p.Pro174=) c.347C= (p.Pro116=) | |
| 10 | g.119672268C>G | CA378295261 | BAG3 | c.521C>G (p.Pro174Arg) c.347C>G (p.Pro116Arg) | |
| 10 | g.119672268C>T | CA378295262 | BAG3 | c.521C>T (p.Pro174Leu) c.347C>T (p.Pro116Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119672269A= | CA1940193035 | BAG3 | c.522A= (p.Pro174=) c.348A= (p.Pro116=) | |
| 10 | g.119672269A>C | CA471739152 | BAG3 | c.522A>C (p.Pro174=) c.348A>C (p.Pro116=) | dbSNP |
| 10 | g.119672269A>G | CA471739153 | BAG3 | c.522A>G (p.Pro174=) c.348A>G (p.Pro116=) | |
| 10 | g.119672269A>T | CA471739154 | BAG3 | c.522A>T (p.Pro174=) c.348A>T (p.Pro116=) | |
| 10 | g.119672270G>A | CA378295263 | BAG3 | c.523G>A (p.Ala175Thr) c.349G>A (p.Ala117Thr) | |
| 10 | g.119672270G>C | CA378295264 | BAG3 | c.523G>C (p.Ala175Pro) c.349G>C (p.Ala117Pro) | ClinVar dbSNP gnomAD v4 |
| 10 | g.119672270G= | CA1940193037 | BAG3 | c.523G= (p.Ala175=) c.349G= (p.Ala117=) | |
| 10 | g.119672270G>T | CA378295265 | BAG3 | c.523G>T (p.Ala175Ser) c.349G>T (p.Ala117Ser) | |
| 10 | g.119672271C>A | CA378295266 | BAG3 | c.524C>A (p.Ala175Asp) c.350C>A (p.Ala117Asp) | |
| 10 | g.119672271C= | CA1940193039 | BAG3 | c.524C= (p.Ala175=) c.350C= (p.Ala117=) | |
| 10 | g.119672271C>G | CA378295267 | BAG3 | c.524C>G (p.Ala175Gly) c.350C>G (p.Ala117Gly) | |
| 10 | g.119672271C>T | CA378295268 | BAG3 | c.524C>T (p.Ala175Val) c.350C>T (p.Ala117Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119672272T>A | CA471739155 | BAG3 | c.525T>A (p.Ala175=) c.351T>A (p.Ala117=) | |
| 10 | g.119672272T>C | CA471739156 | BAG3 | c.525T>C (p.Ala175=) c.351T>C (p.Ala117=) | |
| 10 | g.119672272T>G | CA471739157 | BAG3 | c.525T>G (p.Ala175=) c.351T>G (p.Ala117=) | |
| 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 |
| 10 | g.119672285_119672307del | CA2611160106 | BAG3 | c.538_560del (p.Ser180ProfsTer?) c.364_386del (p.Ser122ProfsTer?) | gnomAD v4 |
| 10 | g.119672286C>A | CA378295299 | BAG3 | c.539C>A (p.Ser180Ter) c.365C>A (p.Ser122Ter) | |
| 10 | g.119672286C>G | CA378295300 | BAG3 | c.539C>G (p.Ser180Ter) c.365C>G (p.Ser122Ter) | |
| 10 | g.119672286C>T | CA378295301 | BAG3 | c.539C>T (p.Ser180Leu) c.365C>T (p.Ser122Leu) | gnomAD v4 |
| 10 | g.119672287A= | CA1940193063 | BAG3 | c.540A= (p.Ser180=) c.366A= (p.Ser122=) | |
| 10 | g.119672287A>C | CA471739165 | BAG3 | c.540A>C (p.Ser180=) c.366A>C (p.Ser122=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672287A>G | CA471739166 | BAG3 | c.540A>G (p.Ser180=) c.366A>G (p.Ser122=) | gnomAD v4 |
| 10 | g.119672287A>T | CA471739167 | BAG3 | c.540A>T (p.Ser180=) c.366A>T (p.Ser122=) | dbSNP |
| 10 | g.119672288T>A | CA378295302 | BAG3 | c.541T>A (p.Ser181Thr) c.367T>A (p.Ser123Thr) | |
| 10 | g.119672288T>C | CA378295303 | BAG3 | c.541T>C (p.Ser181Pro) c.367T>C (p.Ser123Pro) | |
| 10 | g.119672288T>G | CA378295304 | BAG3 | c.541T>G (p.Ser181Ala) c.367T>G (p.Ser123Ala) | |
| 10 | g.119672288_119672289delinsAA | CA2580082420 | BAG3 | c.541_542delinsAA (p.Ser181Asn) c.367_368delinsAA (p.Ser123Asn) | ClinVar |
| 10 | g.119672289C>A | CA378295305 | BAG3 | c.542C>A (p.Ser181Tyr) c.368C>A (p.Ser123Tyr) | |
| 10 | g.119672289C= | CA1940193067 | BAG3 | c.542C= (p.Ser181=) c.368C= (p.Ser123=) | |
| 10 | g.119672289C>G | CA378295307 | BAG3 | c.542C>G (p.Ser181Cys) c.368C>G (p.Ser123Cys) | |
| 10 | g.119672289C>T | CA378295306 | BAG3 | c.542C>T (p.Ser181Phe) c.368C>T (p.Ser123Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119672290C>A | CA471739168 | BAG3 | c.543C>A (p.Ser181=) c.369C>A (p.Ser123=) | |
| 10 | g.119672290C= | CA1940193070 | BAG3 | c.543C= (p.Ser181=) c.369C= (p.Ser123=) | |
| 10 | g.119672290C>G | CA471739169 | BAG3 | c.543C>G (p.Ser181=) c.369C>G (p.Ser123=) | |
| 10 | g.119672290C>T | CA471739170 | BAG3 | c.543C>T (p.Ser181=) c.369C>T (p.Ser123=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119672291T>A | CA378295308 | BAG3 | c.544T>A (p.Ser182Thr) c.370T>A (p.Ser124Thr) | |
| 10 | g.119672291T>C | CA378295309 | BAG3 | c.544T>C (p.Ser182Pro) c.370T>C (p.Ser124Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119672291T>G | CA378295310 | BAG3 | c.544T>G (p.Ser182Ala) c.370T>G (p.Ser124Ala) | |
| 10 | g.119672291T= | CA1940193075 | BAG3 | c.544T= (p.Ser182=) c.370T= (p.Ser124=) | |
| 10 | g.119672292C>A | CA378295311 | BAG3 | c.545C>A (p.Ser182Ter) c.371C>A (p.Ser124Ter) | |
| 10 | g.119672292C= | CA1940193081 | BAG3 | c.545C= (p.Ser182=) c.371C= (p.Ser124=) | |
| 10 | g.119672292C>G | CA378295312 | BAG3 | c.545C>G (p.Ser182Ter) c.371C>G (p.Ser124Ter) | |
| 10 | g.119672292C>T | CA378295313 | BAG3 | c.545C>T (p.Ser182Leu) c.371C>T (p.Ser124Leu) | ClinVar dbSNP gnomAD v4 |
| 10 | g.119672293A>C | CA471739171 | BAG3 | c.546A>C (p.Ser182=) c.372A>C (p.Ser124=) | |
| 10 | g.119672293A>G | CA471739173 | BAG3 | c.546A>G (p.Ser182=) c.372A>G (p.Ser124=) | |
| 10 | g.119672293A>T | CA471739172 | BAG3 | c.546A>T (p.Ser182=) c.372A>T (p.Ser124=) | |
| 10 | g.119672293_119672296delinsATCC | CA1940193084 | BAG3 | c.546_549delinsATCC (p.Ser182=) c.372_375delinsATCC (p.Ser124=) | |
| 10 | g.119672294T>A | CA378295314 | BAG3 | c.547T>A (p.Ser183Thr) c.373T>A (p.Ser125Thr) | |
| 10 | g.119672294T>C | CA5716365 | BAG3 | c.547T>C (p.Ser183Pro) c.373T>C (p.Ser125Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119672294T>G | CA378295315 | BAG3 | c.547T>G (p.Ser183Ala) c.373T>G (p.Ser125Ala) | |
| 10 | g.119672294T= | CA1940193089 | BAG3 | c.547T= (p.Ser183=) c.373T= (p.Ser125=) | |
| 10 | g.119672296_119672301dup | CA5716364 | BAG3 | c.549_554dup (p.Ser185_Ala186insSerSer) c.375_380dup (p.Ser127_Ala128insSerSer) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672299_119672301del | CA16612847 | BAG3 | c.552_554del (p.Ser185del) c.378_380del (p.Ser127del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672296_119672301del | CA2611160107 | BAG3 | c.549_554del (p.Ser184_Ser185del) c.375_380del (p.Ser126_Ser127del) | gnomAD v4 |
| 10 | g.119672295C>A | CA378295316 | BAG3 | c.548C>A (p.Ser183Tyr) c.374C>A (p.Ser125Tyr) | |
| 10 | g.119672295C= | CA1940193095 | BAG3 | c.548C= (p.Ser183=) c.374C= (p.Ser125=) | |
| 10 | g.119672295C>G | CA378295317 | BAG3 | c.548C>G (p.Ser183Cys) c.374C>G (p.Ser125Cys) | |
| 10 | g.119672295C>T | CA378295318 | BAG3 | c.548C>T (p.Ser183Phe) c.374C>T (p.Ser125Phe) | dbSNP gnomAD v2 |
| 10 | g.119672296C>A | CA471739174 | BAG3 | c.549C>A (p.Ser183=) c.375C>A (p.Ser125=) | |
| 10 | g.119672296C= | CA1940193116 | BAG3 | c.549C= (p.Ser183=) c.375C= (p.Ser125=) | |
| 10 | g.119672296C>G | CA295670 | BAG3 | c.549C>G (p.Ser183=) c.375C>G (p.Ser125=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672296C>T | CA471739175 | BAG3 | c.549C>T (p.Ser183=) c.375C>T (p.Ser125=) | |
| 10 | g.119672297T>A | CA378295319 | BAG3 | c.550T>A (p.Ser184Thr) c.376T>A (p.Ser126Thr) | ClinVar |
| 10 | g.119672297T>C | CA378295320 | BAG3 | c.550T>C (p.Ser184Pro) c.376T>C (p.Ser126Pro) | gnomAD v4 |
| 10 | g.119672297T>G | CA378295321 | BAG3 | c.550T>G (p.Ser184Ala) c.376T>G (p.Ser126Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119672297T= | CA1940193123 | BAG3 | c.550T= (p.Ser184=) c.376T= (p.Ser126=) | |
| 10 | g.119672298C>A | CA378295322 | BAG3 | c.551C>A (p.Ser184Tyr) c.377C>A (p.Ser126Tyr) | |
| 10 | g.119672298C= | CA1940193125 | BAG3 | c.551C= (p.Ser184=) c.377C= (p.Ser126=) | |
| 10 | g.119672298C>G | CA378295323 | BAG3 | c.551C>G (p.Ser184Cys) c.377C>G (p.Ser126Cys) | |
| 10 | g.119672298C>T | CA378295324 | BAG3 | c.551C>T (p.Ser184Phe) c.377C>T (p.Ser126Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119672299C>A | CA471739176 | BAG3 | c.552C>A (p.Ser184=) c.378C>A (p.Ser126=) | |
| 10 | g.119672299C>G | CA471739177 | BAG3 | c.552C>G (p.Ser184=) c.378C>G (p.Ser126=) | |
| 10 | g.119672299C>T | CA471739178 | BAG3 | c.552C>T (p.Ser184=) c.378C>T (p.Ser126=) | gnomAD v4 |
| 10 | g.119672300T>A | CA378295325 | BAG3 | c.553T>A (p.Ser185Thr) c.379T>A (p.Ser127Thr) | |
| 10 | g.119672300T>C | CA378295326 | BAG3 | c.553T>C (p.Ser185Pro) c.379T>C (p.Ser127Pro) | |
| 10 | g.119672300T>G | CA378295327 | BAG3 | c.553T>G (p.Ser185Ala) c.379T>G (p.Ser127Ala) | |
| 10 | g.119672301C>A | CA378295328 | BAG3 | c.554C>A (p.Ser185Ter) c.380C>A (p.Ser127Ter) | |
| 10 | g.119672301C= | CA1940193128 | BAG3 | c.554C= (p.Ser185=) c.380C= (p.Ser127=) | |
| 10 | g.119672301C>G | CA378295329 | BAG3 | c.554C>G (p.Ser185Trp) c.380C>G (p.Ser127Trp) | |
| 10 | g.119672301C>T | CA346197 | BAG3 | c.554C>T (p.Ser185Leu) c.380C>T (p.Ser127Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672302G>A | CA471739181 | BAG3 | c.555G>A (p.Ser185=) c.381G>A (p.Ser127=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119672302G>C | CA471739180 | BAG3 | c.555G>C (p.Ser185=) c.381G>C (p.Ser127=) | |
| 10 | g.119672302G= | CA1940193129 | BAG3 | c.555G= (p.Ser185=) c.381G= (p.Ser127=) | |
| 10 | g.119672302G>T | CA471739179 | BAG3 | c.555G>T (p.Ser185=) c.381G>T (p.Ser127=) | |
| 10 | g.119672303G>A | CA378295331 | BAG3 | c.556G>A (p.Ala186Thr) c.382G>A (p.Ala128Thr) | |
| 10 | g.119672303G>C | CA378295332 | BAG3 | c.556G>C (p.Ala186Pro) c.382G>C (p.Ala128Pro) | ClinVar dbSNP |
| 10 | g.119672303G>T | CA378295330 | BAG3 | c.556G>T (p.Ala186Ser) c.382G>T (p.Ala128Ser) | |
| 10 | g.119672304C>A | CA378295334 | BAG3 | c.557C>A (p.Ala186Asp) c.383C>A (p.Ala128Asp) | |
| 10 | g.119672304C= | CA1940193131 | BAG3 | c.557C= (p.Ala186=) c.383C= (p.Ala128=) | |
| 10 | g.119672304C>G | CA378295333 | BAG3 | c.557C>G (p.Ala186Gly) c.383C>G (p.Ala128Gly) | |
| 10 | g.119672304C>T | CA5716366 | BAG3 | c.557C>T (p.Ala186Val) c.383C>T (p.Ala128Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119672304_119672328delinsCCAGCCTGCCTTCCTCCGGCAGGAG | CA1940193130 | BAG3 | c.557_581delinsCCAGCCTGCCTTCCTCCGGCAGGAG (p.Ala186=) c.383_407delinsCCAGCCTGCCTTCCTCCGGCAGGAG (p.Ala128=) | |
| 10 | g.119672305C>A | CA471739182 | BAG3 | c.558C>A (p.Ala186=) c.384C>A (p.Ala128=) | |
| 10 | g.119672305C= | CA1940193133 | BAG3 | c.558C= (p.Ala186=) c.384C= (p.Ala128=) | |
| 10 | g.119672305C>G | CA471739183 | BAG3 | c.558C>G (p.Ala186=) c.384C>G (p.Ala128=) | |
| 10 | g.119672305C>T | CA471739184 | BAG3 | c.558C>T (p.Ala186=) c.384C>T (p.Ala128=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119672312_119672335del | CA1940193132 | BAG3 | c.565_588del (p.Pro189_Leu196del) c.391_414del (p.Pro131_Leu138del) | ClinVar dbSNP |
| 10 | g.119672306A>C | CA378295335 | BAG3 | c.559A>C (p.Ser187Arg) c.385A>C (p.Ser129Arg) | |
| 10 | g.119672306A>G | CA378295336 | BAG3 | c.559A>G (p.Ser187Gly) c.385A>G (p.Ser129Gly) | |
| 10 | g.119672306A>T | CA378295337 | BAG3 | c.559A>T (p.Ser187Cys) c.385A>T (p.Ser129Cys) | |
| 10 | g.119672307G>A | CA378295338 | BAG3 | c.560G>A (p.Ser187Asn) c.386G>A (p.Ser129Asn) | |
| 10 | g.119672307G>C | CA378295339 | BAG3 | c.560G>C (p.Ser187Thr) c.386G>C (p.Ser129Thr) | |
| 10 | g.119672307G= | CA1940193134 | BAG3 | c.560G= (p.Ser187=) c.386G= (p.Ser129=) | |
| 10 | g.119672307G>T | CA378295340 | BAG3 | c.560G>T (p.Ser187Ile) c.386G>T (p.Ser129Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119672308C>A | CA378295341 | BAG3 | c.561C>A (p.Ser187Arg) c.387C>A (p.Ser129Arg) | |
| 10 | g.119672308C>G | CA378295342 | BAG3 | c.561C>G (p.Ser187Arg) c.387C>G (p.Ser129Arg) | gnomAD v4 |
| 10 | g.119672308C>T | CA471739185 | BAG3 | c.561C>T (p.Ser187=) c.387C>T (p.Ser129=) | ClinVar |
| 10 | g.119672309C>A | CA378295343 | BAG3 | c.562C>A (p.Leu188Met) c.388C>A (p.Leu130Met) | |
| 10 | g.119672309C>G | CA378295344 | BAG3 | c.562C>G (p.Leu188Val) c.388C>G (p.Leu130Val) | gnomAD v4 |
| 10 | g.119672309C>T | CA471739186 | BAG3 | c.562C>T (p.Leu188=) c.388C>T (p.Leu130=) | |
| 10 | g.119672310T>A | CA378295346 | BAG3 | c.563T>A (p.Leu188Gln) c.389T>A (p.Leu130Gln) | |
| 10 | g.119672310T>C | CA378295347 | BAG3 | c.563T>C (p.Leu188Pro) c.389T>C (p.Leu130Pro) | |
| 10 | g.119672310T>G | CA378295345 | BAG3 | c.563T>G (p.Leu188Arg) c.389T>G (p.Leu130Arg) | |
| 10 | g.119672311G>A | CA471739187 | BAG3 | c.564G>A (p.Leu188=) c.390G>A (p.Leu130=) | ClinVar gnomAD v4 |
| 10 | g.119672311G>C | CA471739188 | BAG3 | c.564G>C (p.Leu188=) c.390G>C (p.Leu130=) | |
| 10 | g.119672311G= | CA1940193135 | BAG3 | c.564G= (p.Leu188=) c.390G= (p.Leu130=) | |
| 10 | g.119672311G>T | CA10631054 | BAG3 | c.564G>T (p.Leu188=) c.390G>T (p.Leu130=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119672312C>A | CA378295348 | BAG3 | c.565C>A (p.Pro189Thr) c.391C>A (p.Pro131Thr) | |
| 10 | g.119672312C= | CA1940193137 | BAG3 | c.565C= (p.Pro189=) c.391C= (p.Pro131=) | |
| 10 | g.119672312C>G | CA378295349 | BAG3 | c.565C>G (p.Pro189Ala) c.391C>G (p.Pro131Ala) | |
| 10 | g.119672312C>T | CA378295350 | BAG3 | c.565C>T (p.Pro189Ser) c.391C>T (p.Pro131Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119672312_119672327del | CA2611160108 | BAG3 | c.565_580del (p.Pro189AlafsTer17) c.391_406del (p.Pro131AlafsTer17) | gnomAD v4 |
| 10 | g.119672313C>A | CA378295353 | BAG3 | c.566C>A (p.Pro189His) c.392C>A (p.Pro131His) | |
| 10 | g.119672313C>G | CA378295352 | BAG3 | c.566C>G (p.Pro189Arg) c.392C>G (p.Pro131Arg) | |
| 10 | g.119672313C>T | CA378295351 | BAG3 | c.566C>T (p.Pro189Leu) c.392C>T (p.Pro131Leu) | gnomAD v4 |
| 10 | g.119672314T>A | CA471739189 | BAG3 | c.567T>A (p.Pro189=) c.393T>A (p.Pro131=) | |
| 10 | g.119672314T>C | CA471739190 | BAG3 | c.567T>C (p.Pro189=) c.393T>C (p.Pro131=) | |
| 10 | g.119672314T>G | CA471739191 | BAG3 | c.567T>G (p.Pro189=) c.393T>G (p.Pro131=) | |
| 10 | g.119672314_119672324delinsTTCCTCCGGCA | CA1940193140 | BAG3 | c.567_577delinsTTCCTCCGGCA (p.Pro189=) c.393_403delinsTTCCTCCGGCA (p.Pro131=) | |
| 10 | g.119672315T>A | CA378295354 | BAG3 | c.568T>A (p.Ser190Thr) c.394T>A (p.Ser132Thr) | |
| 10 | g.119672315T>C | CA378295355 | BAG3 | c.568T>C (p.Ser190Pro) c.394T>C (p.Ser132Pro) | |
| 10 | g.119672315T>G | CA378295356 | BAG3 | c.568T>G (p.Ser190Ala) c.394T>G (p.Ser132Ala) | |
| 10 | g.119672315_119672324del | CA1139661705 | BAG3 | c.568_577del (p.Ser190GlyfsTer18) c.394_403del (p.Ser132GlyfsTer18) | ClinVar dbSNP |
| 10 | g.119672316C>A | CA378295357 | BAG3 | c.569C>A (p.Ser190Tyr) c.395C>A (p.Ser132Tyr) | |
| 10 | g.119672316C= | CA1940193146 | BAG3 | c.569C= (p.Ser190=) c.395C= (p.Ser132=) | |
| 10 | g.119672316C>G | CA378295358 | BAG3 | c.569C>G (p.Ser190Cys) c.395C>G (p.Ser132Cys) | |
| 10 | g.119672316C>T | CA16606637 | BAG3 | c.569C>T (p.Ser190Phe) c.395C>T (p.Ser132Phe) | ClinVar dbSNP |
| 10 | g.119672317C>A | CA471739192 | BAG3 | c.570C>A (p.Ser190=) c.396C>A (p.Ser132=) | |
| 10 | g.119672317C= | CA1940193153 | BAG3 | c.570C= (p.Ser190=) c.396C= (p.Ser132=) | |
| 10 | g.119672317C>G | CA471739193 | BAG3 | c.570C>G (p.Ser190=) c.396C>G (p.Ser132=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119672317C>T | CA471739194 | BAG3 | c.570C>T (p.Ser190=) c.396C>T (p.Ser132=) | |
| 10 | g.119672318T>A | CA378295361 | BAG3 | c.571T>A (p.Ser191Thr) c.397T>A (p.Ser133Thr) | |
| 10 | g.119672318T>C | CA378295360 | BAG3 | c.571T>C (p.Ser191Pro) c.397T>C (p.Ser133Pro) | |
| 10 | g.119672318T>G | CA378295359 | BAG3 | c.571T>G (p.Ser191Ala) c.397T>G (p.Ser133Ala) | |
| 10 | g.119672319C>A | CA378295362 | BAG3 | c.572C>A (p.Ser191Tyr) c.398C>A (p.Ser133Tyr) | |
| 10 | g.119672319C>G | CA378295363 | BAG3 | c.572C>G (p.Ser191Cys) c.398C>G (p.Ser133Cys) | |
| 10 | g.119672319C>T | CA378295364 | BAG3 | c.572C>T (p.Ser191Phe) c.398C>T (p.Ser133Phe) | |
| 10 | g.119672320C>A | CA471739195 | BAG3 | c.573C>A (p.Ser191=) c.399C>A (p.Ser133=) | |
| 10 | g.119672320C= | CA1940193157 | BAG3 | c.573C= (p.Ser191=) c.399C= (p.Ser133=) | |
| 10 | g.119672320C>G | CA471739196 | BAG3 | c.573C>G (p.Ser191=) c.399C>G (p.Ser133=) | |
| 10 | g.119672320C>T | CA5716367 | BAG3 | c.573C>T (p.Ser191=) c.399C>T (p.Ser133=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.119672320_119672321insTCT | CA1940193164 | BAG3 | c.573_574insTCT (p.Ser191_Gly192insSer) c.399_400insTCT (p.Ser133_Gly134insSer) | dbSNP |
| 10 | g.119672321G>A | CA5716368 | BAG3 | c.574G>A (p.Gly192Ser) c.400G>A (p.Gly134Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672321G>C | CA378295365 | BAG3 | c.574G>C (p.Gly192Arg) c.400G>C (p.Gly134Arg) | |
| 10 | g.119672321G= | CA1940193165 | BAG3 | c.574G= (p.Gly192=) c.400G= (p.Gly134=) | |
| 10 | g.119672321G>T | CA5716369 | BAG3 | c.574G>T (p.Gly192Cys) c.400G>T (p.Gly134Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119672322G>A | CA378295366 | BAG3 | c.575G>A (p.Gly192Asp) c.401G>A (p.Gly134Asp) | |
| 10 | g.119672322G>C | CA378295367 | BAG3 | c.575G>C (p.Gly192Ala) c.401G>C (p.Gly134Ala) | |
| 10 | g.119672322G>T | CA378295368 | BAG3 | c.575G>T (p.Gly192Val) c.401G>T (p.Gly134Val) | |
| 10 | g.119672323C>A | CA471739197 | BAG3 | c.576C>A (p.Gly192=) c.402C>A (p.Gly134=) | |
| 10 | g.119672323C= | CA1940193170 | BAG3 | c.576C= (p.Gly192=) c.402C= (p.Gly134=) | |
| 10 | g.119672323C>G | CA471739199 | BAG3 | c.576C>G (p.Gly192=) c.402C>G (p.Gly134=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119672323C>T | CA471739198 | BAG3 | c.576C>T (p.Gly192=) c.402C>T (p.Gly134=) | ClinVar dbSNP |
| 10 | g.119672324A>C | CA471739200 | BAG3 | c.577A>C (p.Arg193=) c.403A>C (p.Arg135=) | |
| 10 | g.119672324A>G | CA378295369 | BAG3 | c.577A>G (p.Arg193Gly) c.403A>G (p.Arg135Gly) | ClinVar |
| 10 | g.119672324A>T | CA378295370 | BAG3 | c.577A>T (p.Arg193Trp) c.403A>T (p.Arg135Trp) | |
| 10 | g.119672325G>A | CA5716370 | BAG3 | c.578G>A (p.Arg193Lys) c.404G>A (p.Arg135Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.119672325G>C | CA378295372 | BAG3 | c.578G>C (p.Arg193Thr) c.404G>C (p.Arg135Thr) | |
| 10 | g.119672325G= | CA1940193177 | BAG3 | c.578G= (p.Arg193=) c.404G= (p.Arg135=) | |
| 10 | g.119672325G>T | CA378295371 | BAG3 | c.578G>T (p.Arg193Met) c.404G>T (p.Arg135Met) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119672326G>A | CA471739201 | BAG3 | c.579G>A (p.Arg193=) c.405G>A (p.Arg135=) | |
| 10 | g.119672326G>C | CA378295373 | BAG3 | c.579G>C (p.Arg193Ser) c.405G>C (p.Arg135Ser) | |
| 10 | g.119672326G>T | CA378295374 | BAG3 | c.579G>T (p.Arg193Ser) c.405G>T (p.Arg135Ser) | |
| 10 | g.119672326_119672327delinsGA | CA1940193180 | BAG3 | c.579_580delinsGA (p.Arg193=) c.405_406delinsGA (p.Arg135=) | |
| 10 | g.119672327del | CA16618934 | BAG3 | c.580del (p.Ser194AlafsTer17) c.406del (p.Ser136AlafsTer17) | ClinVar dbSNP |
| 10 | g.119672327A= | CA1940193184 | BAG3 | c.580A= (p.Ser194=) c.406A= (p.Ser136=) | |
| 10 | g.119672327A>C | CA378295375 | BAG3 | c.580A>C (p.Ser194Arg) c.406A>C (p.Ser136Arg) | |
| 10 | g.119672327A>G | CA378295376 | BAG3 | c.580A>G (p.Ser194Gly) c.406A>G (p.Ser136Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119672327A>T | CA378295377 | BAG3 | c.580A>T (p.Ser194Cys) c.406A>T (p.Ser136Cys) | |
| 10 | g.119672328G>A | CA378295380 | BAG3 | c.581G>A (p.Ser194Asn) c.407G>A (p.Ser136Asn) | |
| 10 | g.119672328G>C | CA378295378 | BAG3 | c.581G>C (p.Ser194Thr) c.407G>C (p.Ser136Thr) | |
| 10 | g.119672328G>T | CA378295379 | BAG3 | c.581G>T (p.Ser194Ile) c.407G>T (p.Ser136Ile) | |
| 10 | g.119672329C>A | CA378295381 | BAG3 | c.582C>A (p.Ser194Arg) c.408C>A (p.Ser136Arg) | |
| 10 | g.119672329C= | CA1940193187 | BAG3 | c.582C= (p.Ser194=) c.408C= (p.Ser136=) | |
| 10 | g.119672329C>G | CA214221693 | BAG3 | c.582C>G (p.Ser194Arg) c.408C>G (p.Ser136Arg) | ClinVar dbSNP |
| 10 | g.119672329C>T | CA471739202 | BAG3 | c.582C>T (p.Ser194=) c.408C>T (p.Ser136=) | |
| 10 | g.119672330A= | CA1940193189 | BAG3 | c.583A= (p.Ser195=) c.409A= (p.Ser137=) | |
| 10 | g.119672330A>C | CA378295382 | BAG3 | c.583A>C (p.Ser195Arg) c.409A>C (p.Ser137Arg) | |
| 10 | g.119672330A>G | CA5716371 | BAG3 | c.583A>G (p.Ser195Gly) c.409A>G (p.Ser137Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119672330A>T | CA378295383 | BAG3 | c.583A>T (p.Ser195Cys) c.409A>T (p.Ser137Cys) | |
| 10 | g.119672331G>A | CA5716372 | BAG3 | c.584G>A (p.Ser195Asn) c.410G>A (p.Ser137Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672331G>C | CA378295385 | BAG3 | c.584G>C (p.Ser195Thr) c.410G>C (p.Ser137Thr) | |
| 10 | g.119672331G= | CA1940193192 | BAG3 | c.584G= (p.Ser195=) c.410G= (p.Ser137=) | |
| 10 | g.119672331G>T | CA378295384 | BAG3 | c.584G>T (p.Ser195Ile) c.410G>T (p.Ser137Ile) | |
| 10 | g.119672332C>A | CA378295386 | BAG3 | c.585C>A (p.Ser195Arg) c.411C>A (p.Ser137Arg) | |
| 10 | g.119672332C= | CA1940193197 | BAG3 | c.585C= (p.Ser195=) c.411C= (p.Ser137=) | |
| 10 | g.119672332C>G | CA378295387 | BAG3 | c.585C>G (p.Ser195Arg) c.411C>G (p.Ser137Arg) | |
| 10 | g.119672332C>T | CA471739203 | BAG3 | c.585C>T (p.Ser195=) c.411C>T (p.Ser137=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672333C>A | CA378295388 | BAG3 | c.586C>A (p.Leu196Met) c.412C>A (p.Leu138Met) | |
| 10 | g.119672333C= | CA1940193199 | BAG3 | c.586C= (p.Leu196=) c.412C= (p.Leu138=) | |
| 10 | g.119672333C>G | CA214221700 | BAG3 | c.586C>G (p.Leu196Val) c.412C>G (p.Leu138Val) | dbSNP gnomAD v4 |
| 10 | g.119672333C>T | CA471739204 | BAG3 | c.586C>T (p.Leu196=) c.412C>T (p.Leu138=) | |
| 10 | g.119672334T>A | CA378295389 | BAG3 | c.587T>A (p.Leu196Gln) c.413T>A (p.Leu138Gln) | |
| 10 | g.119672334T>C | CA378295390 | BAG3 | c.587T>C (p.Leu196Pro) c.413T>C (p.Leu138Pro) | |
| 10 | g.119672334T>G | CA378295391 | BAG3 | c.587T>G (p.Leu196Arg) c.413T>G (p.Leu138Arg) | |
| 10 | g.119672335G>A | CA471739205 | BAG3 | c.588G>A (p.Leu196=) c.414G>A (p.Leu138=) | |
| 10 | g.119672335G>C | CA471739207 | BAG3 | c.588G>C (p.Leu196=) c.414G>C (p.Leu138=) | |
| 10 | g.119672335G>T | CA471739206 | BAG3 | c.588G>T (p.Leu196=) c.414G>T (p.Leu138=) | |
| 10 | g.119672336G>A | CA5716373 | BAG3 | c.589G>A (p.Gly197Ser) c.415G>A (p.Gly139Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672336G>C | CA378295392 | BAG3 | c.589G>C (p.Gly197Arg) c.415G>C (p.Gly139Arg) | |
| 10 | g.119672336G= | CA1940193202 | BAG3 | c.589G= (p.Gly197=) c.415G= (p.Gly139=) | |
| 10 | g.119672336G>T | CA378295393 | BAG3 | c.589G>T (p.Gly197Cys) c.415G>T (p.Gly139Cys) | COSMIC |
| 10 | g.119672337G>A | CA5716374 | BAG3 | c.590G>A (p.Gly197Asp) c.416G>A (p.Gly139Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119672337G>C | CA378295394 | BAG3 | c.590G>C (p.Gly197Ala) c.416G>C (p.Gly139Ala) | |
| 10 | g.119672337G= | CA1940193204 | BAG3 | c.590G= (p.Gly197=) c.416G= (p.Gly139=) | |
| 10 | g.119672337G>T | CA378295395 | BAG3 | c.590G>T (p.Gly197Val) c.416G>T (p.Gly139Val) | |
| 10 | g.119672338C>A | CA471739208 | BAG3 | c.591C>A (p.Gly197=) c.417C>A (p.Gly139=) | |
| 10 | g.119672338C= | CA1940193208 | BAG3 | c.591C= (p.Gly197=) c.417C= (p.Gly139=) | |
| 10 | g.119672338C>G | CA471739209 | BAG3 | c.591C>G (p.Gly197=) c.417C>G (p.Gly139=) | |
| 10 | g.119672338C>T | CA471739210 | BAG3 | c.591C>T (p.Gly197=) c.417C>T (p.Gly139=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672339A>C | CA378295396 | BAG3 | c.592A>C (p.Ser198Arg) c.418A>C (p.Ser140Arg) | |
| 10 | g.119672339A>G | CA378295397 | BAG3 | c.592A>G (p.Ser198Gly) c.418A>G (p.Ser140Gly) | |
| 10 | g.119672339A>T | CA378295398 | BAG3 | c.592A>T (p.Ser198Cys) c.418A>T (p.Ser140Cys) | ClinVar |
| 10 | g.119672340G>A | CA378295401 | BAG3 | c.593G>A (p.Ser198Asn) c.419G>A (p.Ser140Asn) | |
| 10 | g.119672340G>C | CA378295399 | BAG3 | c.593G>C (p.Ser198Thr) c.419G>C (p.Ser140Thr) | |
| 10 | g.119672340G>T | CA378295400 | BAG3 | c.593G>T (p.Ser198Ile) c.419G>T (p.Ser140Ile) | |
| 10 | g.119672341T>A | CA378295402 | BAG3 | c.594T>A (p.Ser198Arg) c.420T>A (p.Ser140Arg) | |
| 10 | g.119672341T>C | CA471739211 | BAG3 | c.594T>C (p.Ser198=) c.420T>C (p.Ser140=) | |
| 10 | g.119672341T>G | CA378295403 | BAG3 | c.594T>G (p.Ser198Arg) c.420T>G (p.Ser140Arg) | |
| 10 | g.119672342C>A | CA378295404 | BAG3 | c.595C>A (p.His199Asn) c.421C>A (p.His141Asn) | |
| 10 | g.119672342C= | CA1940193212 | BAG3 | c.595C= (p.His199=) c.421C= (p.His141=) | |
| 10 | g.119672342C>G | CA378295405 | BAG3 | c.595C>G (p.His199Asp) c.421C>G (p.His141Asp) | |
| 10 | g.119672342C>T | CA5716375 | BAG3 | c.595C>T (p.His199Tyr) c.421C>T (p.His141Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119672343A>C | CA378295406 | BAG3 | c.596A>C (p.His199Pro) c.422A>C (p.His141Pro) | |
| 10 | g.119672343A>G | CA378295407 | BAG3 | c.596A>G (p.His199Arg) c.422A>G (p.His141Arg) | |
| 10 | g.119672343A>T | CA378295408 | BAG3 | c.596A>T (p.His199Leu) c.422A>T (p.His141Leu) | |
| 10 | g.119672344C>A | CA378295409 | BAG3 | c.597C>A (p.His199Gln) c.423C>A (p.His141Gln) | |
| 10 | g.119672344C= | CA1940193216 | BAG3 | c.597C= (p.His199=) c.423C= (p.His141=) | |
| 10 | g.119672344C>G | CA378295410 | BAG3 | c.597C>G (p.His199Gln) c.423C>G (p.His141Gln) | |
| 10 | g.119672344C>T | CA5716376 | BAG3 | c.597C>T (p.His199=) c.423C>T (p.His141=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672345C>A | CA378295413 | BAG3 | c.598C>A (p.Gln200Lys) c.424C>A (p.Gln142Lys) | |
| 10 | g.119672345C>G | CA378295412 | BAG3 | c.598C>G (p.Gln200Glu) c.424C>G (p.Gln142Glu) | |
| 10 | g.119672345C>T | CA378295411 | BAG3 | c.598C>T (p.Gln200Ter) c.424C>T (p.Gln142Ter) | ClinVar dbSNP COSMIC |
| 10 | g.119672346A= | CA1940193218 | BAG3 | c.599A= (p.Gln200=) c.425A= (p.Gln142=) | |
| 10 | g.119672346A>C | CA378295414 | BAG3 | c.599A>C (p.Gln200Pro) c.425A>C (p.Gln142Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119672346A>G | CA378295415 | BAG3 | c.599A>G (p.Gln200Arg) c.425A>G (p.Gln142Arg) | dbSNP gnomAD v4 |
| 10 | g.119672346A>T | CA378295416 | BAG3 | c.599A>T (p.Gln200Leu) c.425A>T (p.Gln142Leu) | |
| 10 | g.119672347G>A | CA471739744 | BAG3 | c.600G>A (p.Gln200=) c.426G>A (p.Gln142=) | |
| 10 | g.119672347G>C | CA5716377 | BAG3 | c.600G>C (p.Gln200His) c.426G>C (p.Gln142His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119672347G= | CA1940193219 | BAG3 | c.600G= (p.Gln200=) c.426G= (p.Gln142=) | |
| 10 | g.119672347G>T | CA378295417 | BAG3 | c.600G>T (p.Gln200His) c.426G>T (p.Gln142His) | |
| 10 | g.119672348C>A | CA378295418 | BAG3 | c.601C>A (p.Leu201Ile) c.427C>A (p.Leu143Ile) | |
| 10 | g.119672348C>G | CA378295419 | BAG3 | c.601C>G (p.Leu201Val) c.427C>G (p.Leu143Val) | dbSNP gnomAD v4 |
| 10 | g.119672348C>T | CA378295420 | BAG3 | c.601C>T (p.Leu201Phe) c.427C>T (p.Leu143Phe) | gnomAD v4 |
| 10 | g.119672349T>A | CA378295421 | BAG3 | c.602T>A (p.Leu201His) c.428T>A (p.Leu143His) | |
| 10 | g.119672349T>C | CA214221721 | BAG3 | c.602T>C (p.Leu201Pro) c.428T>C (p.Leu143Pro) | dbSNP |
| 10 | g.119672349T>G | CA378295422 | BAG3 | c.602T>G (p.Leu201Arg) c.428T>G (p.Leu143Arg) | dbSNP |
| 10 | g.119672349T= | CA1940193223 | BAG3 | c.602T= (p.Leu201=) c.428T= (p.Leu143=) | |
| 10 | g.119672350C>A | CA471739745 | BAG3 | c.603C>A (p.Leu201=) c.429C>A (p.Leu143=) | |
| 10 | g.119672350C= | CA1940193225 | BAG3 | c.603C= (p.Leu201=) c.429C= (p.Leu143=) | |
| 10 | g.119672350C>G | CA471739746 | BAG3 | c.603C>G (p.Leu201=) c.429C>G (p.Leu143=) | dbSNP |
| 10 | g.119672350C>T | CA471739747 | BAG3 | c.603C>T (p.Leu201=) c.429C>T (p.Leu143=) | |
| 10 | g.119672351C>A | CA378295425 | BAG3 | c.604C>A (p.Pro202Thr) c.430C>A (p.Pro144Thr) | |
| 10 | g.119672351C>G | CA378295424 | BAG3 | c.604C>G (p.Pro202Ala) c.430C>G (p.Pro144Ala) | |
| 10 | g.119672351C>T | CA378295423 | BAG3 | c.604C>T (p.Pro202Ser) c.430C>T (p.Pro144Ser) | |
| 10 | g.119672352C>A | CA378295426 | BAG3 | c.605C>A (p.Pro202Gln) c.431C>A (p.Pro144Gln) | |
| 10 | g.119672352C= | CA1940193229 | BAG3 | c.605C= (p.Pro202=) c.431C= (p.Pro144=) | |
| 10 | g.119672352C>G | CA378295427 | BAG3 | c.605C>G (p.Pro202Arg) c.431C>G (p.Pro144Arg) | |
| 10 | g.119672352C>T | CA5716378 | BAG3 | c.605C>T (p.Pro202Leu) c.431C>T (p.Pro144Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |