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.119672256_119677283del | CA1139532250 | BAG3 | c.509_*1del | |
10 | g.119672255_119672256del | CA2573053244 | BAG3 | c.508_509del c.334_335del | dbSNP |
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=) |