| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.119672256_119677283del | CA1139532250 | BAG3 | c.509_*1del | |
| 10 | g.119672285_119672307del | CA2611160106 | BAG3 | c.538_560del (p.Ser180ProfsTer?) c.364_386del (p.Ser122ProfsTer?) | gnomAD v4 |
| 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.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=) |