| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47337454_47337476delinsAGACGCGCATCTCGTACACCACG | CA1969339905 | MYBPC3 | c.2517_2539delinsCGTGGTGTACGAGATGCGCGTCT (p.Gly839=) c.*22_*44delinsCGTGGTGTACGAGATGCGCGTCT (n.*22_*44delinsCGTGGTGTACGAGATGCGCGTCT) c.2499_2521delinsCGTGGTGTACGAGATGCGCGTCT (p.Gly833=) c.2436_2458delinsCGTGGTGTACGAGATGCGCGTCT (p.Gly812=) | |
| 11 | g.47337455_47337476del | CA012435 | MYBPC3 | c.2517_2538del (p.Val840ThrfsTer?) c.*22_*43del (n.*22_*43del) c.2499_2520del (p.Val834ThrfsTer?) c.2436_2457del (p.Val813ThrfsTer?) | ClinVar dbSNP |
| 11 | g.47337456_47337465delinsACGCGCATCT | CA1969339920 | MYBPC3 | c.2528_2537delinsAGATGCGCGT (p.Glu843=) c.*33_*42delinsAGATGCGCGT (n.*33_*42delinsAGATGCGCGT) c.2510_2519delinsAGATGCGCGT (p.Glu837=) c.2447_2456delinsAGATGCGCGT (p.Glu816=) | |
| 11 | g.47337459_47337467del | CA012493 | MYBPC3 | c.2528_2536del (p.Glu843_Arg845del) c.*33_*41del (n.*33_*41del) c.2510_2518del (p.Glu837_Arg839del) c.2447_2455del (p.Glu816_Arg818del) | ClinVar dbSNP |
| 11 | g.47337465_47337466dup | CA2695212757 | MYBPC3 | c.2529_2530dup (p.Met844ArgfsTer?) c.*34_*35dup (n.*34_*35dup) c.2511_2512dup (p.Met838ArgfsTer?) c.2448_2449dup (p.Met817ArgfsTer?) | |
| 11 | g.47337464C>A | CA380318181 | MYBPC3 | c.2529G>T (p.Glu843Asp) c.*34G>T (n.*34G>T) c.2511G>T (p.Glu837Asp) c.2448G>T (p.Glu816Asp) | |
| 11 | g.47337464C= | CA1969339960 | MYBPC3 | c.2529G= (p.Glu843=) c.*34G= (n.*34G=) c.2511G= (p.Glu837=) c.2448G= (p.Glu816=) | |
| 11 | g.47337464C>G | CA380318182 | MYBPC3 | c.2529G>C (p.Glu843Asp) c.*34G>C (n.*34G>C) c.2511G>C (p.Glu837Asp) c.2448G>C (p.Glu816Asp) | |
| 11 | g.47337464C>T | CA474429311 | MYBPC3 | c.2529G>A (p.Glu843=) c.*34G>A (n.*34G>A) c.2511G>A (p.Glu837=) c.2448G>A (p.Glu816=) | dbSNP gnomAD v4 |
| 11 | g.47337465T>A | CA380318183 | MYBPC3 | c.2528A>T (p.Glu843Val) c.*33A>T (n.*33A>T) c.2510A>T (p.Glu837Val) c.2447A>T (p.Glu816Val) | dbSNP |
| 11 | g.47337465T>C | CA380318184 | MYBPC3 | c.2528A>G (p.Glu843Gly) c.*33A>G (n.*33A>G) c.2510A>G (p.Glu837Gly) c.2447A>G (p.Glu816Gly) | gnomAD v4 |
| 11 | g.47337465T>G | CA380318185 | MYBPC3 | c.2528A>C (p.Glu843Ala) c.*33A>C (n.*33A>C) c.2510A>C (p.Glu837Ala) c.2447A>C (p.Glu816Ala) | |
| 11 | g.47337465T= | CA1969339964 | MYBPC3 | c.2528A= (p.Glu843=) c.*33A= (n.*33A=) c.2510A= (p.Glu837=) c.2447A= (p.Glu816=) | |
| 11 | g.47337466C>A | CA380318186 | MYBPC3 | c.2527G>T (p.Glu843Ter) c.*32G>T (n.*32G>T) c.2509G>T (p.Glu837Ter) c.2446G>T (p.Glu816Ter) | dbSNP |
| 11 | g.47337466C= | CA1969339968 | MYBPC3 | c.2527G= (p.Glu843=) c.*32G= (n.*32G=) c.2509G= (p.Glu837=) c.2446G= (p.Glu816=) | |
| 11 | g.47337466C>G | CA380318187 | MYBPC3 | c.2527G>C (p.Glu843Gln) c.*32G>C (n.*32G>C) c.2509G>C (p.Glu837Gln) c.2446G>C (p.Glu816Gln) | |
| 11 | g.47337466C>T | CA012486 | MYBPC3 | c.2527G>A (p.Glu843Lys) c.*32G>A (n.*32G>A) c.2509G>A (p.Glu837Lys) c.2446G>A (p.Glu816Lys) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47337466_47337467delinsCG | CA1969339972 | MYBPC3 | c.2526_2527delinsCG (p.Tyr842=) c.*31_*32delinsCG (n.*31_*32delinsCG) c.2508_2509delinsCG (p.Tyr836=) c.2445_2446delinsCG (p.Tyr815=) | |
| 11 | g.47337467del | CA915948147 | MYBPC3 | c.2526del (p.Tyr842Ter) c.*31del (n.*31del) c.2508del (p.Tyr836Ter) c.2445del (p.Tyr815Ter) | ClinVar dbSNP |
| 11 | g.47337467G>A | CA078782 | MYBPC3 | c.2526C>T (p.Tyr842=) c.*31C>T (n.*31C>T) c.2508C>T (p.Tyr836=) c.2445C>T (p.Tyr815=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47337467G>C | CA380318188 | MYBPC3 | c.2526C>G (p.Tyr842Ter) c.*31C>G (n.*31C>G) c.2508C>G (p.Tyr836Ter) c.2445C>G (p.Tyr815Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47337467G= | CA1969339988 | MYBPC3 | c.2526C= (p.Tyr842=) c.*31C= (n.*31C=) c.2508C= (p.Tyr836=) c.2445C= (p.Tyr815=) | |
| 11 | g.47337467G>T | CA380318189 | MYBPC3 | c.2526C>A (p.Tyr842Ter) c.*31C>A (n.*31C>A) c.2508C>A (p.Tyr836Ter) c.2445C>A (p.Tyr815Ter) | ClinVar dbSNP |
| 11 | g.47337468T>A | CA380318190 | MYBPC3 | c.2525A>T (p.Tyr842Phe) c.*30A>T (n.*30A>T) c.2507A>T (p.Tyr836Phe) c.2444A>T (p.Tyr815Phe) | |
| 11 | g.47337468T>C | CA012476 | MYBPC3 | c.2525A>G (p.Tyr842Cys) c.*30A>G (n.*30A>G) c.2507A>G (p.Tyr836Cys) c.2444A>G (p.Tyr815Cys) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47337468T>G | CA380318191 | MYBPC3 | c.2525A>C (p.Tyr842Ser) c.*30A>C (n.*30A>C) c.2507A>C (p.Tyr836Ser) c.2444A>C (p.Tyr815Ser) | |
| 11 | g.47337468T= | CA1969339997 | MYBPC3 | c.2525A= (p.Tyr842=) c.*30A= (n.*30A=) c.2507A= (p.Tyr836=) c.2444A= (p.Tyr815=) | |
| 11 | g.47337469A= | CA1969340011 | MYBPC3 | c.2524T= (p.Tyr842=) c.*29T= (n.*29T=) c.2506T= (p.Tyr836=) c.2443T= (p.Tyr815=) | |
| 11 | g.47337469A>C | CA380318192 | MYBPC3 | c.2524T>G (p.Tyr842Asp) c.*29T>G (n.*29T>G) c.2506T>G (p.Tyr836Asp) c.2443T>G (p.Tyr815Asp) | |
| 11 | g.47337469A>G | CA380318193 | MYBPC3 | c.2524T>C (p.Tyr842His) c.*29T>C (n.*29T>C) c.2506T>C (p.Tyr836His) c.2443T>C (p.Tyr815His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47337469A>T | CA380318194 | MYBPC3 | c.2524T>A (p.Tyr842Asn) c.*29T>A (n.*29T>A) c.2506T>A (p.Tyr836Asn) c.2443T>A (p.Tyr815Asn) | |
| 11 | g.47337469dup | CA012465 | MYBPC3 | c.2524dup (p.Tyr842LeufsTer?) c.*29dup (n.*29dup) c.2506dup (p.Tyr836LeufsTer?) c.2443dup (p.Tyr815LeufsTer?) | ClinVar dbSNP |
| 11 | g.47337470C>A | CA474429312 | MYBPC3 | c.2523G>T (p.Val841=) c.*28G>T (n.*28G>T) c.2505G>T (p.Val835=) c.2442G>T (p.Val814=) | |
| 11 | g.47337470C>G | CA474429313 | MYBPC3 | c.2523G>C (p.Val841=) c.*28G>C (n.*28G>C) c.2505G>C (p.Val835=) c.2442G>C (p.Val814=) | |
| 11 | g.47337470C>T | CA474429314 | MYBPC3 | c.2523G>A (p.Val841=) c.*28G>A (n.*28G>A) c.2505G>A (p.Val835=) c.2442G>A (p.Val814=) | |
| 11 | g.47337473_47337475del | CA2613401208 | MYBPC3 | c.2521_2523del (p.Val841del) c.*26_*28del (n.*26_*28del) c.2503_2505del (p.Val835del) c.2440_2442del (p.Val814del) | gnomAD v4 |
| 11 | g.47337471A= | CA1969340014 | MYBPC3 | c.2522T= (p.Val841=) c.*27T= (n.*27T=) c.2504T= (p.Val835=) c.2441T= (p.Val814=) | |
| 11 | g.47337471A>C | CA380318195 | MYBPC3 | c.2522T>G (p.Val841Gly) c.*27T>G (n.*27T>G) c.2504T>G (p.Val835Gly) c.2441T>G (p.Val814Gly) | |
| 11 | g.47337471A>G | CA221688459 | MYBPC3 | c.2522T>C (p.Val841Ala) c.*27T>C (n.*27T>C) c.2504T>C (p.Val835Ala) c.2441T>C (p.Val814Ala) | dbSNP gnomAD v4 |
| 11 | g.47337471A>T | CA380318196 | MYBPC3 | c.2522T>A (p.Val841Glu) c.*27T>A (n.*27T>A) c.2504T>A (p.Val835Glu) c.2441T>A (p.Val814Glu) | |
| 11 | g.47337472C>A | CA380318197 | MYBPC3 | c.2521G>T (p.Val841Leu) c.*26G>T (n.*26G>T) c.2503G>T (p.Val835Leu) c.2440G>T (p.Val814Leu) | |
| 11 | g.47337472C>G | CA380318198 | MYBPC3 | c.2521G>C (p.Val841Leu) c.*26G>C (n.*26G>C) c.2503G>C (p.Val835Leu) c.2440G>C (p.Val814Leu) | |
| 11 | g.47337472C>T | CA380318199 | MYBPC3 | c.2521G>A (p.Val841Met) c.*26G>A (n.*26G>A) c.2503G>A (p.Val835Met) c.2440G>A (p.Val814Met) | gnomAD v4 |
| 11 | g.47337473del | CA2695212758 | MYBPC3 | c.2521del (p.Val841CysfsTer?) c.*26del (n.*26del) c.2503del (p.Val835CysfsTer?) c.2440del (p.Val814CysfsTer?) | |
| 11 | g.47337472_47337474delinsTG | CA2573331896 | MYBPC3 | c.2519_2521delinsCA (p.Val840AlafsTer?) c.*24_*26delinsCA (n.*24_*26delinsCA) c.2501_2503delinsCA (p.Val834AlafsTer?) c.2438_2440delinsCA (p.Val813AlafsTer?) | |
| 11 | g.47337473C>A | CA474429315 | MYBPC3 | c.2520G>T (p.Val840=) c.*25G>T (n.*25G>T) c.2502G>T (p.Val834=) c.2439G>T (p.Val813=) | |
| 11 | g.47337473C>G | CA474429316 | MYBPC3 | c.2520G>C (p.Val840=) c.*25G>C (n.*25G>C) c.2502G>C (p.Val834=) c.2439G>C (p.Val813=) | |
| 11 | g.47337473C>T | CA474429317 | MYBPC3 | c.2520G>A (p.Val840=) c.*25G>A (n.*25G>A) c.2502G>A (p.Val834=) c.2439G>A (p.Val813=) | |
| 11 | g.47337474A>C | CA380318201 | MYBPC3 | c.2519T>G (p.Val840Gly) c.*24T>G (n.*24T>G) c.2501T>G (p.Val834Gly) c.2438T>G (p.Val813Gly) | |
| 11 | g.47337474A>G | CA380318202 | MYBPC3 | c.2519T>C (p.Val840Ala) c.*24T>C (n.*24T>C) c.2501T>C (p.Val834Ala) c.2438T>C (p.Val813Ala) |