Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.119672256_119677283del | CA1139532250 | BAG3 | c.509_*1del | |
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=) |