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.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=) |