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.47346297C>A | CA009672 | MYBPC3 | c.1000G>T (p.Glu334Ter) c.982G>T (p.Glu328Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.47346297C= | CA1969339628 | MYBPC3 | c.1000G= (p.Glu334=) c.982G= (p.Glu328=) | |
11 | g.47346297C>G | CA380331485 | MYBPC3 | c.1000G>C (p.Glu334Gln) c.982G>C (p.Glu328Gln) | |
11 | g.47346297C>T | CA009667 | MYBPC3 | c.1000G>A (p.Glu334Lys) c.982G>A (p.Glu328Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47346298del | CA2697548549 | MYBPC3 | c.999del (p.Tyr333Ter) c.981del (p.Tyr327Ter) | ClinVar |
11 | g.47346298G>A | CA057719 | MYBPC3 | c.999C>T (p.Tyr333=) c.981C>T (p.Tyr327=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346298G>C | CA016252 | MYBPC3 | c.999C>G (p.Tyr333Ter) c.981C>G (p.Tyr327Ter) | ClinVar dbSNP |
11 | g.47346298G= | CA1969339631 | MYBPC3 | c.999C= (p.Tyr333=) c.981C= (p.Tyr327=) | |
11 | g.47346298G>T | CA380331492 | MYBPC3 | c.999C>A (p.Tyr333Ter) c.981C>A (p.Tyr327Ter) | ClinVar dbSNP |
11 | g.47346299T>A | CA380331496 | MYBPC3 | c.998A>T (p.Tyr333Phe) c.980A>T (p.Tyr327Phe) | |
11 | g.47346299T>C | CA380331502 | MYBPC3 | c.998A>G (p.Tyr333Cys) c.980A>G (p.Tyr327Cys) | |
11 | g.47346299T>G | CA380331500 | MYBPC3 | c.998A>C (p.Tyr333Ser) c.980A>C (p.Tyr327Ser) | |
11 | g.47346300A>C | CA380331504 | MYBPC3 | c.997T>G (p.Tyr333Asp) c.979T>G (p.Tyr327Asp) | |
11 | g.47346300A>G | CA380331508 | MYBPC3 | c.997T>C (p.Tyr333His) c.979T>C (p.Tyr327His) | |
11 | g.47346300A>T | CA380331506 | MYBPC3 | c.997T>A (p.Tyr333Asn) c.979T>A (p.Tyr327Asn) | |
11 | g.47346301C>A | CA380331511 | MYBPC3 | c.996G>T (p.Glu332Asp) c.978G>T (p.Glu326Asp) | |
11 | g.47346301C>G | CA380331513 | MYBPC3 | c.996G>C (p.Glu332Asp) c.978G>C (p.Glu326Asp) | |
11 | g.47346301C>T | CA474220921 | MYBPC3 | c.996G>A (p.Glu332=) c.978G>A (p.Glu326=) | |
11 | g.47346302T>A | CA380331515 | MYBPC3 | c.995A>T (p.Glu332Val) c.977A>T (p.Glu326Val) | |
11 | g.47346302T>C | CA380331517 | MYBPC3 | c.995A>G (p.Glu332Gly) c.977A>G (p.Glu326Gly) | |
11 | g.47346302T>G | CA380331519 | MYBPC3 | c.995A>C (p.Glu332Ala) c.977A>C (p.Glu326Ala) | |
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.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=) |