Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47345814_47346367del | CA2580084293 | MYBPC3 | c.933_1090+396del c.915_1072+396del | ClinVar |
11 | g.47346242_47346313delinsAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGT | CA1969339501 | MYBPC3 | c.984_1055delinsACCCCCATCTGAGTACGAGCGCATCGCCTTCCAGTACGGCGTCACTGACCTGCGCGGCATGCTAAAGAGGCT (p.Ala328=) c.966_1037delinsACCCCCATCTGAGTACGAGCGCATCGCCTTCCAGTACGGCGTCACTGACCTGCGCGGCATGCTAAAGAGGCT (p.Ala322=) | |
11 | g.47346247_47346317del | CA016227 | MYBPC3 | c.984_1054del (p.Pro329GlnfsTer7) c.966_1036del (p.Pro323GlnfsTer7) | ClinVar dbSNP |
11 | g.47346303C>A | CA16616724 | MYBPC3 | c.994G>T (p.Glu332Ter) c.976G>T (p.Glu326Ter) | |
11 | g.47346303C= | CA1969339637 | MYBPC3 | c.994G= (p.Glu332=) c.976G= (p.Glu326=) | |
11 | g.47346303C>G | CA380331523 | MYBPC3 | c.994G>C (p.Glu332Gln) c.976G>C (p.Glu326Gln) | |
11 | g.47346303C>T | CA016247 | MYBPC3 | c.994G>A (p.Glu332Lys) c.976G>A (p.Glu326Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346304A>C | CA474220927 | MYBPC3 | c.993T>G (p.Ser331=) c.975T>G (p.Ser325=) | |
11 | g.47346304A>G | CA474220928 | MYBPC3 | c.993T>C (p.Ser331=) c.975T>C (p.Ser325=) | |
11 | g.47346304A>T | CA474220929 | MYBPC3 | c.993T>A (p.Ser331=) c.975T>A (p.Ser325=) | |
11 | g.47346304dup | CA016238 | MYBPC3 | c.993dup (p.Glu332Ter) c.975dup (p.Glu326Ter) | ClinVar dbSNP |
11 | g.47346305G>A | CA380331530 | MYBPC3 | c.992C>T (p.Ser331Phe) c.974C>T (p.Ser325Phe) | |
11 | g.47346305G>C | CA380331533 | MYBPC3 | c.992C>G (p.Ser331Cys) c.974C>G (p.Ser325Cys) | |
11 | g.47346305G>T | CA380331535 | MYBPC3 | c.992C>A (p.Ser331Tyr) c.974C>A (p.Ser325Tyr) | |
11 | g.47346306A>C | CA380331540 | MYBPC3 | c.991T>G (p.Ser331Ala) c.973T>G (p.Ser325Ala) | |
11 | g.47346306A>G | CA380331548 | MYBPC3 | c.991T>C (p.Ser331Pro) c.973T>C (p.Ser325Pro) | |
11 | g.47346306A>T | CA380331554 | MYBPC3 | c.991T>A (p.Ser331Thr) c.973T>A (p.Ser325Thr) | |
11 | g.47346307T>A | CA474220934 | MYBPC3 | c.990A>T (p.Pro330=) c.972A>T (p.Pro324=) | |
11 | g.47346307T>C | CA474220936 | MYBPC3 | c.990A>G (p.Pro330=) c.972A>G (p.Pro324=) | |
11 | g.47346307T>G | CA474220932 | MYBPC3 | c.990A>C (p.Pro330=) c.972A>C (p.Pro324=) | ClinVar dbSNP |
11 | g.47346307T= | CA1969339642 | MYBPC3 | c.990A= (p.Pro330=) c.972A= (p.Pro324=) | |
11 | g.47346308G>A | CA380331558 | MYBPC3 | c.989C>T (p.Pro330Leu) c.971C>T (p.Pro324Leu) | gnomAD v4 |
11 | g.47346308G>C | CA380331572 | MYBPC3 | c.989C>G (p.Pro330Arg) c.971C>G (p.Pro324Arg) | |
11 | g.47346308G= | CA1969339644 | MYBPC3 | c.989C= (p.Pro330=) c.971C= (p.Pro324=) | |
11 | g.47346308G>T | CA380331569 | MYBPC3 | c.989C>A (p.Pro330Gln) c.971C>A (p.Pro324Gln) | dbSNP |
11 | g.47346312dup | CA2791323223 | MYBPC3 | c.989dup (p.Ser331IlefsTer2) c.971dup (p.Ser325IlefsTer2) | |
11 | g.47346312del | CA2573051156 | MYBPC3 | c.989del (p.Pro330HisfsTer20) c.971del (p.Pro324HisfsTer20) | ClinVar gnomAD v4 |
11 | g.47346309G>A | CA380331578 | MYBPC3 | c.988C>T (p.Pro330Ser) c.970C>T (p.Pro324Ser) | |
11 | g.47346309G>C | CA380331580 | MYBPC3 | c.988C>G (p.Pro330Ala) c.970C>G (p.Pro324Ala) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47346309G= | CA1969339646 | MYBPC3 | c.988C= (p.Pro330=) c.970C= (p.Pro324=) | |
11 | g.47346309G>T | CA380331581 | MYBPC3 | c.988C>A (p.Pro330Thr) c.970C>A (p.Pro324Thr) | ClinVar dbSNP gnomAD v4 |
11 | g.47346310G>A | CA474220941 | MYBPC3 | c.987C>T (p.Pro329=) c.969C>T (p.Pro323=) | gnomAD v4 |
11 | g.47346310G>C | CA474220938 | MYBPC3 | c.987C>G (p.Pro329=) c.969C>G (p.Pro323=) | |
11 | g.47346310G>T | CA474220939 | MYBPC3 | c.987C>A (p.Pro329=) c.969C>A (p.Pro323=) | |
11 | g.47346311G>A | CA380331582 | MYBPC3 | c.986C>T (p.Pro329Leu) c.968C>T (p.Pro323Leu) | ClinVar dbSNP gnomAD v4 |
11 | g.47346311G>C | CA380331586 | MYBPC3 | c.986C>G (p.Pro329Arg) c.968C>G (p.Pro323Arg) | |
11 | g.47346311G= | CA1969339648 | MYBPC3 | c.986C= (p.Pro329=) c.968C= (p.Pro323=) | |
11 | g.47346311G>T | CA380331590 | MYBPC3 | c.986C>A (p.Pro329His) c.968C>A (p.Pro323His) | COSMIC COSMIC |
11 | g.47346312G>A | CA380331597 | MYBPC3 | c.985C>T (p.Pro329Ser) c.967C>T (p.Pro323Ser) | dbSNP |
11 | g.47346312G>C | CA380331601 | MYBPC3 | c.985C>G (p.Pro329Ala) c.967C>G (p.Pro323Ala) | |
11 | g.47346312G= | CA1969339650 | MYBPC3 | c.985C= (p.Pro329=) c.967C= (p.Pro323=) | |
11 | g.47346312G>T | CA380331605 | MYBPC3 | c.985C>A (p.Pro329Thr) c.967C>A (p.Pro323Thr) | |
11 | g.47346313T>A | CA474220944 | MYBPC3 | c.984A>T (p.Ala328=) c.966A>T (p.Ala322=) | |
11 | g.47346313T>C | CA474220946 | MYBPC3 | c.984A>G (p.Ala328=) c.966A>G (p.Ala322=) | |
11 | g.47346313T>G | CA474220945 | MYBPC3 | c.984A>C (p.Ala328=) c.966A>C (p.Ala322=) | dbSNP |
11 | g.47346313T= | CA1969339654 | MYBPC3 | c.984A= (p.Ala328=) c.966A= (p.Ala322=) | |
11 | g.47346314G>A | CA380331643 | MYBPC3 | c.983C>T (p.Ala328Val) c.965C>T (p.Ala322Val) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
11 | g.47346314G>C | CA380331621 | MYBPC3 | c.983C>G (p.Ala328Gly) c.965C>G (p.Ala322Gly) | gnomAD v4 |
11 | g.47346314G= | CA1969339656 | MYBPC3 | c.983C= (p.Ala328=) c.965C= (p.Ala322=) | |
11 | g.47346314G>T | CA380331608 | MYBPC3 | c.983C>A (p.Ala328Glu) c.965C>A (p.Ala322Glu) |