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.47346264_47346268delinsGGTCA | CA1969339556 | MYBPC3 | c.1029_1033delinsTGACC (p.Thr343=) c.1011_1015delinsTGACC (p.Thr337=) | |
11 | g.47346267_47346270del | CA915948162 | MYBPC3 | c.1029_1032del (p.Asp344CysfsTer5) c.1011_1014del (p.Asp338CysfsTer5) | ClinVar dbSNP |
11 | g.47346268A>C | CA474220858 | MYBPC3 | c.1029T>G (p.Thr343=) c.1011T>G (p.Thr337=) | |
11 | g.47346268A>G | CA474220860 | MYBPC3 | c.1029T>C (p.Thr343=) c.1011T>C (p.Thr337=) | |
11 | g.47346268A>T | CA474220862 | MYBPC3 | c.1029T>A (p.Thr343=) c.1011T>A (p.Thr337=) | |
11 | g.47346268_47346269delinsAG | CA1969339569 | MYBPC3 | c.1028_1029delinsCT (p.Thr343=) c.1010_1011delinsCT (p.Thr337=) | |
11 | g.47346269del | CA009708 | MYBPC3 | c.1028del (p.Thr343MetfsTer7) c.1010del (p.Thr337MetfsTer7) | ClinVar dbSNP gnomAD v4 |
11 | g.47346269G>A | CA380331288 | MYBPC3 | c.1028C>T (p.Thr343Ile) c.1010C>T (p.Thr337Ile) | ClinVar |
11 | g.47346269G>C | CA380331290 | MYBPC3 | c.1028C>G (p.Thr343Ser) c.1010C>G (p.Thr337Ser) | |
11 | g.47346269G>T | CA380331289 | MYBPC3 | c.1028C>A (p.Thr343Asn) c.1010C>A (p.Thr337Asn) | |
11 | g.47346271_47346278del | CA2695213930 | MYBPC3 | c.1021_1028del (p.Gly341Ter) c.1003_1010del (p.Gly335Ter) | |
11 | g.47346270T>A | CA380331292 | MYBPC3 | c.1027A>T (p.Thr343Ser) c.1009A>T (p.Thr337Ser) | |
11 | g.47346270T>C | CA380331296 | MYBPC3 | c.1027A>G (p.Thr343Ala) c.1009A>G (p.Thr337Ala) | |
11 | g.47346270T>G | CA380331297 | MYBPC3 | c.1027A>C (p.Thr343Pro) c.1009A>C (p.Thr337Pro) | |
11 | g.47346271G>A | CA474220872 | MYBPC3 | c.1026C>T (p.Val342=) c.1008C>T (p.Val336=) | |
11 | g.47346271G>C | CA474220869 | MYBPC3 | c.1026C>G (p.Val342=) c.1008C>G (p.Val336=) | |
11 | g.47346271G>T | CA474220868 | MYBPC3 | c.1026C>A (p.Val342=) c.1008C>A (p.Val336=) | |
11 | g.47346272A= | CA1969339572 | MYBPC3 | c.1025T= (p.Val342=) c.1007T= (p.Val336=) | |
11 | g.47346272A>C | CA380331298 | MYBPC3 | c.1025T>G (p.Val342Gly) c.1007T>G (p.Val336Gly) | |
11 | g.47346272A>G | CA380331299 | MYBPC3 | c.1025T>C (p.Val342Ala) c.1007T>C (p.Val336Ala) | gnomAD v4 |
11 | g.47346272A>T | CA009704 | MYBPC3 | c.1025T>A (p.Val342Asp) c.1007T>A (p.Val336Asp) | dbSNP |
11 | g.47346273C>A | CA380331301 | MYBPC3 | c.1024G>T (p.Val342Phe) c.1006G>T (p.Val336Phe) | |
11 | g.47346273C= | CA1969339574 | MYBPC3 | c.1024G= (p.Val342=) c.1006G= (p.Val336=) | |
11 | g.47346273C>G | CA380331312 | MYBPC3 | c.1024G>C (p.Val342Leu) c.1006G>C (p.Val336Leu) | |
11 | g.47346273C>T | CA009698 | MYBPC3 | c.1024G>A (p.Val342Ile) c.1006G>A (p.Val336Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346274G>A | CA042054 | MYBPC3 | c.1023C>T (p.Gly341=) c.1005C>T (p.Gly335=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346274G>C | CA474220880 | MYBPC3 | c.1023C>G (p.Gly341=) c.1005C>G (p.Gly335=) | |
11 | g.47346274G= | CA1969339578 | MYBPC3 | c.1023C= (p.Gly341=) c.1005C= (p.Gly335=) | |
11 | g.47346274G>T | CA474220881 | MYBPC3 | c.1023C>A (p.Gly341=) c.1005C>A (p.Gly335=) | |
11 | g.47346275C>A | CA380331320 | MYBPC3 | c.1022G>T (p.Gly341Val) c.1004G>T (p.Gly335Val) | ClinVar dbSNP gnomAD v2 |
11 | g.47346275C= | CA1969339584 | MYBPC3 | c.1022G= (p.Gly341=) c.1004G= (p.Gly335=) | |
11 | g.47346275C>G | CA380331326 | MYBPC3 | c.1022G>C (p.Gly341Ala) c.1004G>C (p.Gly335Ala) | |
11 | g.47346275C>T | CA380331324 | MYBPC3 | c.1022G>A (p.Gly341Asp) c.1004G>A (p.Gly335Asp) | dbSNP COSMIC COSMIC |
11 | g.47346276C>A | CA380331329 | MYBPC3 | c.1021G>T (p.Gly341Cys) c.1003G>T (p.Gly335Cys) | |
11 | g.47346276C= | CA1969339586 | MYBPC3 | c.1021G= (p.Gly341=) c.1003G= (p.Gly335=) | |
11 | g.47346276C>G | CA380331331 | MYBPC3 | c.1021G>C (p.Gly341Arg) c.1003G>C (p.Gly335Arg) | |
11 | g.47346276C>T | CA009692 | MYBPC3 | c.1021G>A (p.Gly341Ser) c.1003G>A (p.Gly335Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47346277del | CA2697548548 | MYBPC3 | c.1020del (p.Tyr340Ter) c.1002del (p.Tyr334Ter) | ClinVar |
11 | g.47346277G>A | CA042025 | MYBPC3 | c.1020C>T (p.Tyr340=) c.1002C>T (p.Tyr334=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47346277G>C | CA380331334 | MYBPC3 | c.1020C>G (p.Tyr340Ter) c.1002C>G (p.Tyr334Ter) | |
11 | g.47346277G= | CA1969339595 | MYBPC3 | c.1020C= (p.Tyr340=) c.1002C= (p.Tyr334=) | |
11 | g.47346277G>T | CA380331336 | MYBPC3 | c.1020C>A (p.Tyr340Ter) c.1002C>A (p.Tyr334Ter) | |
11 | g.47346278T>A | CA380331339 | MYBPC3 | c.1019A>T (p.Tyr340Phe) c.1001A>T (p.Tyr334Phe) | |
11 | g.47346278T>C | CA380331342 | MYBPC3 | c.1019A>G (p.Tyr340Cys) c.1001A>G (p.Tyr334Cys) | |
11 | g.47346278T>G | CA380331349 | MYBPC3 | c.1019A>C (p.Tyr340Ser) c.1001A>C (p.Tyr334Ser) | |
11 | g.47346279A>C | CA380331354 | MYBPC3 | c.1018T>G (p.Tyr340Asp) c.1000T>G (p.Tyr334Asp) | |
11 | g.47346279A>G | CA380331358 | MYBPC3 | c.1018T>C (p.Tyr340His) c.1000T>C (p.Tyr334His) |