| 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.47346271_47346278del | CA2695213930 | MYBPC3 | c.1021_1028del (p.Gly341Ter) c.1003_1010del (p.Gly335Ter) | |
| 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) | |
| 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) | |
| 11 | g.47346279A>T | CA380331360 | MYBPC3 | c.1018T>A (p.Tyr340Asn) c.1000T>A (p.Tyr334Asn) | |
| 11 | g.47346280C>A | CA380331363 | MYBPC3 | c.1017G>T (p.Gln339His) c.999G>T (p.Gln333His) | dbSNP |
| 11 | g.47346280C= | CA1969339603 | MYBPC3 | c.1017G= (p.Gln339=) c.999G= (p.Gln333=) | |
| 11 | g.47346280C>G | CA380331367 | MYBPC3 | c.1017G>C (p.Gln339His) c.999G>C (p.Gln333His) | |
| 11 | g.47346280C>T | CA474220890 | MYBPC3 | c.1017G>A (p.Gln339=) c.999G>A (p.Gln333=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47346281T>A | CA380331376 | MYBPC3 | c.1016A>T (p.Gln339Leu) c.998A>T (p.Gln333Leu) | |
| 11 | g.47346281T>C | CA380331368 | MYBPC3 | c.1016A>G (p.Gln339Arg) c.998A>G (p.Gln333Arg) | |
| 11 | g.47346281T>G | CA380331371 | MYBPC3 | c.1016A>C (p.Gln339Pro) c.998A>C (p.Gln333Pro) | |
| 11 | g.47346282G>A | CA009690 | MYBPC3 | c.1015C>T (p.Gln339Ter) c.997C>T (p.Gln333Ter) | ClinVar dbSNP |
| 11 | g.47346282G>C | CA380331386 | MYBPC3 | c.1015C>G (p.Gln339Glu) c.997C>G (p.Gln333Glu) | |
| 11 | g.47346282G= | CA1969339608 | MYBPC3 | c.1015C= (p.Gln339=) c.997C= (p.Gln333=) | |
| 11 | g.47346282G>T | CA380331389 | MYBPC3 | c.1015C>A (p.Gln339Lys) c.997C>A (p.Gln333Lys) | |
| 11 | g.47346283G>A | CA474220894 | MYBPC3 | c.1014C>T (p.Phe338=) c.996C>T (p.Phe332=) | |
| 11 | g.47346283G>C | CA380331392 | MYBPC3 | c.1014C>G (p.Phe338Leu) c.996C>G (p.Phe332Leu) | |
| 11 | g.47346283G>T | CA380331393 | MYBPC3 | c.1014C>A (p.Phe338Leu) c.996C>A (p.Phe332Leu) | |
| 11 | g.47346284A>C | CA380331396 | MYBPC3 | c.1013T>G (p.Phe338Cys) c.995T>G (p.Phe332Cys) |