Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.119672256_119677283del | CA1139532250 | BAG3 | c.509_*1del | |
10 | g.119672419C>A | CA471739838 | BAG3 | c.672C>A (p.Ser224=) c.498C>A (p.Ser166=) | |
10 | g.119672419C= | CA1940193387 | BAG3 | c.672C= (p.Ser224=) c.498C= (p.Ser166=) | |
10 | g.119672419C>G | CA471739839 | BAG3 | c.672C>G (p.Ser224=) c.498C>G (p.Ser166=) | |
10 | g.119672419C>T | CA5716392 | BAG3 | c.672C>T (p.Ser224=) c.498C>T (p.Ser166=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119672420T>A | CA378295555 | BAG3 | c.673T>A (p.Phe225Ile) c.499T>A (p.Phe167Ile) | |
10 | g.119672420T>C | CA378295556 | BAG3 | c.673T>C (p.Phe225Leu) c.499T>C (p.Phe167Leu) | ClinVar dbSNP gnomAD v4 |
10 | g.119672420T>G | CA378295557 | BAG3 | c.673T>G (p.Phe225Val) c.499T>G (p.Phe167Val) | |
10 | g.119672420T= | CA1940193388 | BAG3 | c.673T= (p.Phe225=) c.499T= (p.Phe167=) | |
10 | g.119672421T>A | CA378295560 | BAG3 | c.674T>A (p.Phe225Tyr) c.500T>A (p.Phe167Tyr) | |
10 | g.119672421T>C | CA378295558 | BAG3 | c.674T>C (p.Phe225Ser) c.500T>C (p.Phe167Ser) | |
10 | g.119672421T>G | CA378295559 | BAG3 | c.674T>G (p.Phe225Cys) c.500T>G (p.Phe167Cys) | |
10 | g.119672422C>A | CA378295561 | BAG3 | c.675C>A (p.Phe225Leu) c.501C>A (p.Phe167Leu) | |
10 | g.119672422C>G | CA378295562 | BAG3 | c.675C>G (p.Phe225Leu) c.501C>G (p.Phe167Leu) | |
10 | g.119672422C>T | CA471739847 | BAG3 | c.675C>T (p.Phe225=) c.501C>T (p.Phe167=) | |
10 | g.119672423C>A | CA378295563 | BAG3 | c.676C>A (p.His226Asn) c.502C>A (p.His168Asn) | |
10 | g.119672423C>G | CA378295564 | BAG3 | c.676C>G (p.His226Asp) c.502C>G (p.His168Asp) | |
10 | g.119672423C>T | CA378295565 | BAG3 | c.676C>T (p.His226Tyr) c.502C>T (p.His168Tyr) | |
10 | g.119672424A= | CA1940193391 | BAG3 | c.677A= (p.His226=) c.503A= (p.His168=) | |
10 | g.119672424A>C | CA378295566 | BAG3 | c.677A>C (p.His226Pro) c.503A>C (p.His168Pro) | |
10 | g.119672424A>G | CA378295567 | BAG3 | c.677A>G (p.His226Arg) c.503A>G (p.His168Arg) | ClinVar dbSNP |
10 | g.119672424A>T | CA378295568 | BAG3 | c.677A>T (p.His226Leu) c.503A>T (p.His168Leu) | dbSNP |
10 | g.119672425C>A | CA378295569 | BAG3 | c.678C>A (p.His226Gln) c.504C>A (p.His168Gln) | |
10 | g.119672425C= | CA1940193392 | BAG3 | c.678C= (p.His226=) c.504C= (p.His168=) | |
10 | g.119672425C>G | CA378295570 | BAG3 | c.678C>G (p.His226Gln) c.504C>G (p.His168Gln) | |
10 | g.119672425C>T | CA471739853 | BAG3 | c.678C>T (p.His226=) c.504C>T (p.His168=) | dbSNP gnomAD v4 |
10 | g.119672426C>A | CA378295571 | BAG3 | c.679C>A (p.Gln227Lys) c.505C>A (p.Gln169Lys) | |
10 | g.119672426C= | CA1940193393 | BAG3 | c.679C= (p.Gln227=) c.505C= (p.Gln169=) | |
10 | g.119672426C>G | CA5716393 | BAG3 | c.679C>G (p.Gln227Glu) c.505C>G (p.Gln169Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119672426C>T | CA378295572 | BAG3 | c.679C>T (p.Gln227Ter) c.505C>T (p.Gln169Ter) | |
10 | g.119672427A= | CA1940193394 | BAG3 | c.680A= (p.Gln227=) c.506A= (p.Gln169=) | |
10 | g.119672427A>C | CA378295573 | BAG3 | c.680A>C (p.Gln227Pro) c.506A>C (p.Gln169Pro) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119672427A>G | CA378295575 | BAG3 | c.680A>G (p.Gln227Arg) c.506A>G (p.Gln169Arg) | |
10 | g.119672427A>T | CA378295574 | BAG3 | c.680A>T (p.Gln227Leu) c.506A>T (p.Gln169Leu) | |
10 | g.119672428A>C | CA378295576 | BAG3 | c.681A>C (p.Gln227His) c.507A>C (p.Gln169His) | |
10 | g.119672428A>G | CA471739859 | BAG3 | c.681A>G (p.Gln227=) c.507A>G (p.Gln169=) | |
10 | g.119672428A>T | CA378295577 | BAG3 | c.681A>T (p.Gln227His) c.507A>T (p.Gln169His) | |
10 | g.119672429G>A | CA378295578 | BAG3 | c.682G>A (p.Ala228Thr) c.508G>A (p.Ala170Thr) | |
10 | g.119672429G>C | CA378295579 | BAG3 | c.682G>C (p.Ala228Pro) c.508G>C (p.Ala170Pro) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119672429G>T | CA378295580 | BAG3 | c.682G>T (p.Ala228Ser) c.508G>T (p.Ala170Ser) | |
10 | g.119672430C>A | CA378295581 | BAG3 | c.683C>A (p.Ala228Asp) c.509C>A (p.Ala170Asp) | |
10 | g.119672430C= | CA1940193395 | BAG3 | c.683C= (p.Ala228=) c.509C= (p.Ala170=) | |
10 | g.119672430C>G | CA214221830 | BAG3 | c.683C>G (p.Ala228Gly) c.509C>G (p.Ala170Gly) | dbSNP |
10 | g.119672430C>T | CA378295582 | BAG3 | c.683C>T (p.Ala228Val) c.509C>T (p.Ala170Val) | dbSNP |
10 | g.119672431C>A | CA471739865 | BAG3 | c.684C>A (p.Ala228=) c.510C>A (p.Ala170=) | |
10 | g.119672431C>G | CA471739867 | BAG3 | c.684C>G (p.Ala228=) c.510C>G (p.Ala170=) | |
10 | g.119672431C>T | CA471739866 | BAG3 | c.684C>T (p.Ala228=) c.510C>T (p.Ala170=) | |
10 | g.119672432C>A | CA378295583 | BAG3 | c.685C>A (p.Gln229Lys) c.511C>A (p.Gln171Lys) | |
10 | g.119672432C>G | CA378295584 | BAG3 | c.685C>G (p.Gln229Glu) c.511C>G (p.Gln171Glu) | |
10 | g.119672432C>T | CA378295585 | BAG3 | c.685C>T (p.Gln229Ter) c.511C>T (p.Gln171Ter) |