Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.119672256_119677283del | CA1139532250 | BAG3 | c.509_*1del | |
10 | g.119674392_119683124del | CA2580082473 | ClinVar | ||
10 | g.119675031_119678711del | CA2580082474 | ClinVar | ||
10 | g.119676519_119676523delinsAAAGT | CA1940196545 | BAG3 | c.965_969delinsAAAGT (p.Glu322=) c.788_792delinsAAAGT (p.Glu263=) c.962_966delinsAAAGT (p.Glu321=) | |
10 | g.119676523_119676526del | CA915948734 | BAG3 | c.969_972del (p.Lys324GlnfsTer17) c.792_795del (p.Lys265GlnfsTer17) c.966_969del (p.Lys323GlnfsTer17) | ClinVar dbSNP |
10 | g.119676521A= | CA1940196546 | BAG3 | c.967A= (p.Ser323=) c.790A= (p.Ser264=) c.964A= (p.Ser322=) | |
10 | g.119676521A>C | CA378296365 | BAG3 | c.967A>C (p.Ser323Arg) c.790A>C (p.Ser264Arg) c.964A>C (p.Ser322Arg) | |
10 | g.119676521A>G | CA5716455 | BAG3 | c.967A>G (p.Ser323Gly) c.790A>G (p.Ser264Gly) c.964A>G (p.Ser322Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119676521A>T | CA378296366 | BAG3 | c.967A>T (p.Ser323Cys) c.790A>T (p.Ser264Cys) c.964A>T (p.Ser322Cys) | |
10 | g.119676522G>A | CA5716456 | BAG3 | c.968G>A (p.Ser323Asn) c.791G>A (p.Ser264Asn) c.965G>A (p.Ser322Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119676522G>C | CA378296367 | BAG3 | c.968G>C (p.Ser323Thr) c.791G>C (p.Ser264Thr) c.965G>C (p.Ser322Thr) | gnomAD v4 |
10 | g.119676522G= | CA1940196547 | BAG3 | c.968G= (p.Ser323=) c.791G= (p.Ser264=) c.965G= (p.Ser322=) | |
10 | g.119676522G>T | CA378296368 | BAG3 | c.968G>T (p.Ser323Ile) c.791G>T (p.Ser264Ile) c.965G>T (p.Ser322Ile) | |
10 | g.119676523T>A | CA378296369 | BAG3 | c.969T>A (p.Ser323Arg) c.792T>A (p.Ser264Arg) c.966T>A (p.Ser322Arg) | |
10 | g.119676523T>C | CA471634807 | BAG3 | c.969T>C (p.Ser323=) c.792T>C (p.Ser264=) c.966T>C (p.Ser322=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119676523T>G | CA378296370 | BAG3 | c.969T>G (p.Ser323Arg) c.792T>G (p.Ser264Arg) c.966T>G (p.Ser322Arg) | |
10 | g.119676523T= | CA1940196548 | BAG3 | c.969T= (p.Ser323=) c.792T= (p.Ser264=) c.966T= (p.Ser322=) | |
10 | g.119676524A>C | CA378296371 | BAG3 | c.970A>C (p.Lys324Gln) c.793A>C (p.Lys265Gln) c.967A>C (p.Lys323Gln) | |
10 | g.119676524A>G | CA378296373 | BAG3 | c.970A>G (p.Lys324Glu) c.793A>G (p.Lys265Glu) c.967A>G (p.Lys323Glu) | |
10 | g.119676524A>T | CA378296372 | BAG3 | c.970A>T (p.Lys324Ter) c.793A>T (p.Lys265Ter) c.967A>T (p.Lys323Ter) | |
10 | g.119676525A= | CA1940196549 | BAG3 | c.971A= (p.Lys324=) c.794A= (p.Lys265=) c.968A= (p.Lys323=) | |
10 | g.119676525A>C | CA378296374 | BAG3 | c.971A>C (p.Lys324Thr) c.794A>C (p.Lys265Thr) c.968A>C (p.Lys323Thr) | |
10 | g.119676525A>G | CA378296376 | BAG3 | c.971A>G (p.Lys324Arg) c.794A>G (p.Lys265Arg) c.968A>G (p.Lys323Arg) | |
10 | g.119676525A>T | CA378296375 | BAG3 | c.971A>T (p.Lys324Met) c.794A>T (p.Lys265Met) c.968A>T (p.Lys323Met) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119676526G>A | CA471634808 | BAG3 | c.972G>A (p.Lys324=) c.795G>A (p.Lys265=) c.969G>A (p.Lys323=) | gnomAD v4 |
10 | g.119676526G>C | CA378296377 | BAG3 | c.972G>C (p.Lys324Asn) c.795G>C (p.Lys265Asn) c.969G>C (p.Lys323Asn) | |
10 | g.119676526G>T | CA378296378 | BAG3 | c.972G>T (p.Lys324Asn) c.795G>T (p.Lys265Asn) c.969G>T (p.Lys323Asn) | |
10 | g.119676526_119676527delinsGC | CA1940196550 | BAG3 | c.972_973delinsGC (p.Lys324=) c.795_796delinsGC (p.Lys265=) c.969_970delinsGC (p.Lys323=) | |
10 | g.119676527C>A | CA378296379 | BAG3 | c.973C>A (p.Pro325Thr) c.796C>A (p.Pro266Thr) c.970C>A (p.Pro324Thr) | |
10 | g.119676527C>G | CA378296380 | BAG3 | c.973C>G (p.Pro325Ala) c.796C>G (p.Pro266Ala) c.970C>G (p.Pro324Ala) | ClinVar dbSNP gnomAD v4 |
10 | g.119676527C>T | CA378296381 | BAG3 | c.973C>T (p.Pro325Ser) c.796C>T (p.Pro266Ser) c.970C>T (p.Pro324Ser) | |
10 | g.119676528del | CA916082337 | BAG3 | c.974del (p.Pro325GlnfsTer17) c.797del (p.Pro266GlnfsTer17) c.971del (p.Pro324GlnfsTer17) | ClinVar dbSNP |
10 | g.119676528C>A | CA5716457 | BAG3 | c.974C>A (p.Pro325Gln) c.797C>A (p.Pro266Gln) c.971C>A (p.Pro324Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119676528C= | CA1940196551 | BAG3 | c.974C= (p.Pro325=) c.797C= (p.Pro266=) c.971C= (p.Pro324=) | |
10 | g.119676528C>G | CA378296383 | BAG3 | c.974C>G (p.Pro325Arg) c.797C>G (p.Pro266Arg) c.971C>G (p.Pro324Arg) | |
10 | g.119676528C>T | CA378296382 | BAG3 | c.974C>T (p.Pro325Leu) c.797C>T (p.Pro266Leu) c.971C>T (p.Pro324Leu) | |
10 | g.119676529A= | CA1940196552 | BAG3 | c.975A= (p.Pro325=) c.798A= (p.Pro266=) c.972A= (p.Pro324=) | |
10 | g.119676529A>C | CA471634809 | BAG3 | c.975A>C (p.Pro325=) c.798A>C (p.Pro266=) c.972A>C (p.Pro324=) | |
10 | g.119676529A>G | CA471634810 | BAG3 | c.975A>G (p.Pro325=) c.798A>G (p.Pro266=) c.972A>G (p.Pro324=) | gnomAD v4 |
10 | g.119676529A>T | CA471634811 | BAG3 | c.975A>T (p.Pro325=) c.798A>T (p.Pro266=) c.972A>T (p.Pro324=) | ClinVar dbSNP |
10 | g.119676530G>A | CA378296384 | BAG3 | c.976G>A (p.Gly326Ser) c.799G>A (p.Gly267Ser) c.973G>A (p.Gly325Ser) | |
10 | g.119676530G>C | CA378296385 | BAG3 | c.976G>C (p.Gly326Arg) c.799G>C (p.Gly267Arg) c.973G>C (p.Gly325Arg) | |
10 | g.119676530G>T | CA378296386 | BAG3 | c.976G>T (p.Gly326Cys) c.799G>T (p.Gly267Cys) c.973G>T (p.Gly325Cys) | |
10 | g.119676531G>A | CA378296387 | BAG3 | c.977G>A (p.Gly326Asp) c.800G>A (p.Gly267Asp) c.974G>A (p.Gly325Asp) | gnomAD v4 |
10 | g.119676531G>C | CA378296388 | BAG3 | c.977G>C (p.Gly326Ala) c.800G>C (p.Gly267Ala) c.974G>C (p.Gly325Ala) | |
10 | g.119676531G= | CA1940196553 | BAG3 | c.977G= (p.Gly326=) c.800G= (p.Gly267=) c.974G= (p.Gly325=) | |
10 | g.119676531G>T | CA378296389 | BAG3 | c.977G>T (p.Gly326Val) c.800G>T (p.Gly267Val) c.974G>T (p.Gly325Val) | dbSNP gnomAD v4 |
10 | g.119676532C>A | CA471634812 | BAG3 | c.978C>A (p.Gly326=) c.801C>A (p.Gly267=) c.975C>A (p.Gly325=) | |
10 | g.119676532C>G | CA471634814 | BAG3 | c.978C>G (p.Gly326=) c.801C>G (p.Gly267=) c.975C>G (p.Gly325=) | |
10 | g.119676532C>T | CA471634813 | BAG3 | c.978C>T (p.Gly326=) c.801C>T (p.Gly267=) c.975C>T (p.Gly325=) |