Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.119672256_119677283del | CA1139532250 | BAG3 | c.509_*1del | |
10 | g.119672388_119672414del | CA2580082424 | BAG3 | c.641_667del (p.Gln214_Gln222del) c.467_493del (p.Gln156_Gln164del) | ClinVar |
10 | g.119672409C>A | CA378295534 | BAG3 | c.662C>A (p.Ala221Asp) c.488C>A (p.Ala163Asp) | |
10 | g.119672409C>G | CA378295535 | BAG3 | c.662C>G (p.Ala221Gly) c.488C>G (p.Ala163Gly) | |
10 | g.119672409C>T | CA378295536 | BAG3 | c.662C>T (p.Ala221Val) c.488C>T (p.Ala163Val) | gnomAD v4 |
10 | g.119672410C>A | CA471739814 | BAG3 | c.663C>A (p.Ala221=) c.489C>A (p.Ala163=) | |
10 | g.119672410C>G | CA471739816 | BAG3 | c.663C>G (p.Ala221=) c.489C>G (p.Ala163=) | gnomAD v4 |
10 | g.119672410C>T | CA471739818 | BAG3 | c.663C>T (p.Ala221=) c.489C>T (p.Ala163=) | ClinVar |
10 | g.119672411C>A | CA378295537 | BAG3 | c.664C>A (p.Gln222Lys) c.490C>A (p.Gln164Lys) | |
10 | g.119672411C>G | CA378295538 | BAG3 | c.664C>G (p.Gln222Glu) c.490C>G (p.Gln164Glu) | |
10 | g.119672411C>T | CA378295539 | BAG3 | c.664C>T (p.Gln222Ter) c.490C>T (p.Gln164Ter) | |
10 | g.119672412A>C | CA378295540 | BAG3 | c.665A>C (p.Gln222Pro) c.491A>C (p.Gln164Pro) | |
10 | g.119672412A>G | CA378295541 | BAG3 | c.665A>G (p.Gln222Arg) c.491A>G (p.Gln164Arg) | ClinVar |
10 | g.119672412A>T | CA378295542 | BAG3 | c.665A>T (p.Gln222Leu) c.491A>T (p.Gln164Leu) | |
10 | g.119672413G>A | CA471739823 | BAG3 | c.666G>A (p.Gln222=) c.492G>A (p.Gln164=) | |
10 | g.119672413G>C | CA378295543 | BAG3 | c.666G>C (p.Gln222His) c.492G>C (p.Gln164His) | |
10 | g.119672413G= | CA1940193376 | BAG3 | c.666G= (p.Gln222=) c.492G= (p.Gln164=) | |
10 | g.119672413G>T | CA378295544 | BAG3 | c.666G>T (p.Gln222His) c.492G>T (p.Gln164His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119672414C>A | CA378295546 | BAG3 | c.667C>A (p.Pro223Thr) c.493C>A (p.Pro165Thr) | ClinVar dbSNP gnomAD v4 |
10 | g.119672414C= | CA1940193379 | BAG3 | c.667C= (p.Pro223=) c.493C= (p.Pro165=) | |
10 | g.119672414C>G | CA378295547 | BAG3 | c.667C>G (p.Pro223Ala) c.493C>G (p.Pro165Ala) | ClinVar gnomAD v4 |
10 | g.119672414C>T | CA378295545 | BAG3 | c.667C>T (p.Pro223Ser) c.493C>T (p.Pro165Ser) | |
10 | g.119672415C>A | CA378295548 | BAG3 | c.668C>A (p.Pro223His) c.494C>A (p.Pro165His) | |
10 | g.119672415C= | CA1940193385 | BAG3 | c.668C= (p.Pro223=) c.494C= (p.Pro165=) | |
10 | g.119672415C>G | CA077630 | BAG3 | c.668C>G (p.Pro223Arg) c.494C>G (p.Pro165Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119672415C>T | CA5716390 | BAG3 | c.668C>T (p.Pro223Leu) c.494C>T (p.Pro165Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119672416C>A | CA471739831 | BAG3 | c.669C>A (p.Pro223=) c.495C>A (p.Pro165=) | |
10 | g.119672416C= | CA1940193386 | BAG3 | c.669C= (p.Pro223=) c.495C= (p.Pro165=) | |
10 | g.119672416C>G | CA471739833 | BAG3 | c.669C>G (p.Pro223=) c.495C>G (p.Pro165=) | |
10 | g.119672416C>T | CA5716391 | BAG3 | c.669C>T (p.Pro223=) c.495C>T (p.Pro165=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119672417del | CA2695212862 | BAG3 | c.670del (p.Ser224ProfsTer?) c.496del (p.Ser166ProfsTer?) | |
10 | g.119672417T>A | CA378295549 | BAG3 | c.670T>A (p.Ser224Thr) c.496T>A (p.Ser166Thr) | |
10 | g.119672417T>C | CA378295550 | BAG3 | c.670T>C (p.Ser224Pro) c.496T>C (p.Ser166Pro) | |
10 | g.119672417T>G | CA378295551 | BAG3 | c.670T>G (p.Ser224Ala) c.496T>G (p.Ser166Ala) | |
10 | g.119672417dup | CA645372886 | BAG3 | c.670dup (p.Ser224PhefsTer?) c.496dup (p.Ser166PhefsTer?) | ClinVar dbSNP |
10 | g.119672418C>A | CA378295552 | BAG3 | c.671C>A (p.Ser224Tyr) c.497C>A (p.Ser166Tyr) | |
10 | g.119672418C>G | CA378295554 | BAG3 | c.671C>G (p.Ser224Cys) c.497C>G (p.Ser166Cys) | |
10 | g.119672418C>T | CA378295553 | BAG3 | c.671C>T (p.Ser224Phe) c.497C>T (p.Ser166Phe) | |
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) |