Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.47337445_47337453dupCA2739270431MYBPC3c.2544_2552dup (p.Ala851_Ile852insValAsnAla)
c.*49_*57dup (n.*49_*57dup)
c.2526_2534dup (p.Ala845_Ile846insValAsnAla)
c.2463_2471dup (p.Ala824_Ile825insValAsnAla)
 ClinVar
11g.47337447_47337450delCA2613400963MYBPC3c.2544_2547del (p.Val849ThrfsTer29)
c.*49_*52del (n.*49_*52del)
c.2526_2529del (p.Val843ThrfsTer29)
c.2463_2466del (p.Val822ThrfsTer29)
 gnomAD v4
11g.47337446_47337453delinsACA915940853MYBPC3c.2540_2547delinsT (p.Tyr847LeufsTer30)
c.*45_*52delinsT (n.*45_*52delinsT)
c.2522_2529delinsT (p.Tyr841LeufsTer30)
c.2459_2466delinsT (p.Tyr820LeufsTer30)
11g.47337449delCA2695212753MYBPC3c.2545del (p.Val849SerfsTer30)
c.*50del (n.*50del)
c.2527del (p.Val843SerfsTer30)
c.2464del (p.Val822SerfsTer30)
11g.47337449C>ACA474429560MYBPC3c.2544G>T (p.Ala848=)
c.*49G>T (n.*49G>T)
c.2526G>T (p.Ala842=)
c.2463G>T (p.Ala821=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47337449C=CA1969339885MYBPC3c.2544G= (p.Ala848=)
c.*49G= (n.*49G=)
c.2526G= (p.Ala842=)
c.2463G= (p.Ala821=)
11g.47337449C>GCA474429561MYBPC3c.2544G>C (p.Ala848=)
c.*49G>C (n.*49G>C)
c.2526G>C (p.Ala842=)
c.2463G>C (p.Ala821=)
11g.47337449C>TCA012593MYBPC3c.2544G>A (p.Ala848=)
c.*49G>A (n.*49G>A)
c.2526G>A (p.Ala842=)
c.2463G>A (p.Ala821=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.47337449_47337450delinsCGCA1969339887MYBPC3c.2543_2544delinsCG (p.Ala848=)
c.*48_*49delinsCG (n.*48_*49delinsCG)
c.2525_2526delinsCG (p.Ala842=)
c.2462_2463delinsCG (p.Ala821=)
11g.47337451_47337452dupCA913190269MYBPC3c.2543_2544dup (p.Val849ArgfsTer?)
c.*48_*49dup (n.*48_*49dup)
c.2525_2526dup (p.Val843ArgfsTer?)
c.2462_2463dup (p.Val822ArgfsTer?)
 ClinVar dbSNP
11g.47337451_47337452delCA2695212754MYBPC3c.2543_2544del (p.Ala848GlyfsTer?)
c.*48_*49del (n.*48_*49del)
c.2525_2526del (p.Ala842GlyfsTer?)
c.2462_2463del (p.Ala821GlyfsTer?)
11g.47337450delCA012582MYBPC3c.2543del (p.Ala848GlyfsTer?)
c.*48del (n.*48del)
c.2525del (p.Ala842GlyfsTer?)
c.2462del (p.Ala821GlyfsTer?)
 ClinVar dbSNP
11g.47337450G>ACA078799MYBPC3c.2543C>T (p.Ala848Val)
c.*48C>T (n.*48C>T)
c.2525C>T (p.Ala842Val)
c.2462C>T (p.Ala821Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47337450G>CCA012577MYBPC3c.2543C>G (p.Ala848Gly)
c.*48C>G (n.*48C>G)
c.2525C>G (p.Ala842Gly)
c.2462C>G (p.Ala821Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47337450G=CA1969339890MYBPC3c.2543C= (p.Ala848=)
c.*48C= (n.*48C=)
c.2525C= (p.Ala842=)
c.2462C= (p.Ala821=)
11g.47337450G>TCA349345MYBPC3c.2543C>A (p.Ala848Glu)
c.*48C>A (n.*48C>A)
c.2525C>A (p.Ala842Glu)
c.2462C>A (p.Ala821Glu)
 ClinVar dbSNP
11g.47337450_47337451delinsCACA2573053508MYBPC3c.2542_2543delinsTG (p.Ala848Trp)
c.*47_*48delinsTG (n.*47_*48delinsTG)
c.2524_2525delinsTG (p.Ala842Trp)
c.2461_2462delinsTG (p.Ala821Trp)
 ClinVar dbSNP
11g.47337451delCA2695212755MYBPC3c.2542del (p.Ala848ArgfsTer?)
c.*47del (n.*47del)
c.2524del (p.Ala842ArgfsTer?)
c.2461del (p.Ala821ArgfsTer?)
 ClinVar
11g.47337451C>ACA380318161MYBPC3c.2542G>T (p.Ala848Ser)
c.*47G>T (n.*47G>T)
c.2524G>T (p.Ala842Ser)
c.2461G>T (p.Ala821Ser)
 ClinVar
11g.47337451C=CA1969339893MYBPC3c.2542G= (p.Ala848=)
c.*47G= (n.*47G=)
c.2524G= (p.Ala842=)
c.2461G= (p.Ala821=)
11g.47337451C>GCA380318160MYBPC3c.2542G>C (p.Ala848Pro)
c.*47G>C (n.*47G>C)
c.2524G>C (p.Ala842Pro)
c.2461G>C (p.Ala821Pro)
 ClinVar dbSNP
11g.47337451C>TCA078797MYBPC3c.2542G>A (p.Ala848Thr)
c.*47G>A (n.*47G>A)
c.2524G>A (p.Ala842Thr)
c.2461G>A (p.Ala821Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47337452G>ACA474429306MYBPC3c.2541C>T (p.Tyr847=)
c.*46C>T (n.*46C>T)
c.2523C>T (p.Tyr841=)
c.2460C>T (p.Tyr820=)
 ClinVar dbSNP gnomAD v4
11g.47337452G>CCA012567MYBPC3c.2541C>G (p.Tyr847Ter)
c.*46C>G (n.*46C>G)
c.2523C>G (p.Tyr841Ter)
c.2460C>G (p.Tyr820Ter)
 ClinVar dbSNP gnomAD v4
11g.47337452G=CA1969339896MYBPC3c.2541C= (p.Tyr847=)
c.*46C= (n.*46C=)
c.2523C= (p.Tyr841=)
c.2460C= (p.Tyr820=)
11g.47337452G>TCA012558MYBPC3c.2541C>A (p.Tyr847Ter)
c.*46C>A (n.*46C>A)
c.2523C>A (p.Tyr841Ter)
c.2460C>A (p.Tyr820Ter)
 ClinVar dbSNP
11g.47337453T>ACA380318162MYBPC3c.2540A>T (p.Tyr847Phe)
c.*45A>T (n.*45A>T)
c.2522A>T (p.Tyr841Phe)
c.2459A>T (p.Tyr820Phe)
 gnomAD v4
11g.47337453T>CCA380318163MYBPC3c.2540A>G (p.Tyr847Cys)
c.*45A>G (n.*45A>G)
c.2522A>G (p.Tyr841Cys)
c.2459A>G (p.Tyr820Cys)
 ClinVar dbSNP gnomAD v4
11g.47337453T>GCA348478MYBPC3c.2540A>C (p.Tyr847Ser)
c.*45A>C (n.*45A>C)
c.2522A>C (p.Tyr841Ser)
c.2459A>C (p.Tyr820Ser)
 ClinVar dbSNP gnomAD v4
11g.47337453T=CA1969339899MYBPC3c.2540A= (p.Tyr847=)
c.*45A= (n.*45A=)
c.2522A= (p.Tyr841=)
c.2459A= (p.Tyr820=)
11g.47337453_47337459delCA2695212756MYBPC3c.2534_2540del (p.Arg845ProfsTer?)
c.*39_*45del (n.*39_*45del)
c.2516_2522del (p.Arg839ProfsTer?)
c.2453_2459del (p.Arg818ProfsTer?)
11g.47337454A=CA1969339902MYBPC3c.2539T= (p.Tyr847=)
c.*44T= (n.*44T=)
c.2521T= (p.Tyr841=)
c.2458T= (p.Tyr820=)
11g.47337454A>CCA380318164MYBPC3c.2539T>G (p.Tyr847Asp)
c.*44T>G (n.*44T>G)
c.2521T>G (p.Tyr841Asp)
c.2458T>G (p.Tyr820Asp)
11g.47337454A>GCA078794MYBPC3c.2539T>C (p.Tyr847His)
c.*44T>C (n.*44T>C)
c.2521T>C (p.Tyr841His)
c.2458T>C (p.Tyr820His)
 ClinVar dbSNP ExAC gnomAD v2
11g.47337454A>TCA380318165MYBPC3c.2539T>A (p.Tyr847Asn)
c.*44T>A (n.*44T>A)
c.2521T>A (p.Tyr841Asn)
c.2458T>A (p.Tyr820Asn)
11g.47337454_47337459delinsAGACGCCA1969339906MYBPC3c.2534_2539delinsGCGTCT (p.Arg845=)
c.*39_*44delinsGCGTCT (n.*39_*44delinsGCGTCT)
c.2516_2521delinsGCGTCT (p.Arg839=)
c.2453_2458delinsGCGTCT (p.Arg818=)
11g.47337454_47337461delinsAGACGCGCCA1969339904MYBPC3c.2532_2539delinsGCGCGTCT (p.Met844=)
c.*37_*44delinsGCGCGTCT (n.*37_*44delinsGCGCGTCT)
c.2514_2521delinsGCGCGTCT (p.Met838=)
c.2451_2458delinsGCGCGTCT (p.Met817=)
11g.47337454_47337476delinsAGACGCGCATCTCGTACACCACGCA1969339905MYBPC3c.2517_2539delinsCGTGGTGTACGAGATGCGCGTCT (p.Gly839=)
c.*22_*44delinsCGTGGTGTACGAGATGCGCGTCT (n.*22_*44delinsCGTGGTGTACGAGATGCGCGTCT)
c.2499_2521delinsCGTGGTGTACGAGATGCGCGTCT (p.Gly833=)
c.2436_2458delinsCGTGGTGTACGAGATGCGCGTCT (p.Gly812=)
11g.47337455G>ACA474429307MYBPC3c.2538C>T (p.Val846=)
c.*43C>T (n.*43C>T)
c.2520C>T (p.Val840=)
c.2457C>T (p.Val819=)
11g.47337455G>CCA078792MYBPC3c.2538C>G (p.Val846=)
c.*43C>G (n.*43C>G)
c.2520C>G (p.Val840=)
c.2457C>G (p.Val819=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337455G=CA1969339911MYBPC3c.2538C= (p.Val846=)
c.*43C= (n.*43C=)
c.2520C= (p.Val840=)
c.2457C= (p.Val819=)
11g.47337455G>TCA474429308MYBPC3c.2538C>A (p.Val846=)
c.*43C>A (n.*43C>A)
c.2520C>A (p.Val840=)
c.2457C>A (p.Val819=)
 gnomAD v4
11g.47337456_47337460delCA012522MYBPC3c.2534_2538del (p.Arg845LeufsTer?)
c.*39_*43del (n.*39_*43del)
c.2516_2520del (p.Arg839LeufsTer?)
c.2453_2457del (p.Arg818LeufsTer?)
 ClinVar dbSNP gnomAD v4
11g.47337455_47337461delCA012500MYBPC3c.2532_2538del (p.Met844IlefsTer?)
c.*37_*43del (n.*37_*43del)
c.2514_2520del (p.Met838IlefsTer?)
c.2451_2457del (p.Met817IlefsTer?)
 ClinVar dbSNP
11g.47337455_47337476delCA012435MYBPC3c.2517_2538del (p.Val840ThrfsTer?)
c.*22_*43del (n.*22_*43del)
c.2499_2520del (p.Val834ThrfsTer?)
c.2436_2457del (p.Val813ThrfsTer?)
 ClinVar dbSNP
11g.47337456A=CA1969339918MYBPC3c.2537T= (p.Val846=)
c.*42T= (n.*42T=)
c.2519T= (p.Val840=)
c.2456T= (p.Val819=)
11g.47337456A>CCA380318166MYBPC3c.2537T>G (p.Val846Gly)
c.*42T>G (n.*42T>G)
c.2519T>G (p.Val840Gly)
c.2456T>G (p.Val819Gly)
11g.47337456A>GCA380318167MYBPC3c.2537T>C (p.Val846Ala)
c.*42T>C (n.*42T>C)
c.2519T>C (p.Val840Ala)
c.2456T>C (p.Val819Ala)
 gnomAD v4
11g.47337456A>TCA012545MYBPC3c.2537T>A (p.Val846Asp)
c.*42T>A (n.*42T>A)
c.2519T>A (p.Val840Asp)
c.2456T>A (p.Val819Asp)
 ClinVar dbSNP gnomAD v4
11g.47337456_47337465delinsACGCGCATCTCA1969339920MYBPC3c.2528_2537delinsAGATGCGCGT (p.Glu843=)
c.*33_*42delinsAGATGCGCGT (n.*33_*42delinsAGATGCGCGT)
c.2510_2519delinsAGATGCGCGT (p.Glu837=)
c.2447_2456delinsAGATGCGCGT (p.Glu816=)
11g.47337457C>ACA380318168MYBPC3c.2536G>T (p.Val846Phe)
c.*41G>T (n.*41G>T)
c.2518G>T (p.Val840Phe)
c.2455G>T (p.Val819Phe)
 dbSNP
11g.47337457C=CA1969339924MYBPC3c.2536G= (p.Val846=)
c.*41G= (n.*41G=)
c.2518G= (p.Val840=)
c.2455G= (p.Val819=)
11g.47337457C>GCA380318169MYBPC3c.2536G>C (p.Val846Leu)
c.*41G>C (n.*41G>C)
c.2518G>C (p.Val840Leu)
c.2455G>C (p.Val819Leu)
 ClinVar dbSNP gnomAD v4
11g.47337457C>TCA078789MYBPC3c.2536G>A (p.Val846Ile)
c.*41G>A (n.*41G>A)
c.2518G>A (p.Val840Ile)
c.2455G>A (p.Val819Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337459_47337467delCA012493MYBPC3c.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
11g.47337458G>ACA474429309MYBPC3c.2535C>T (p.Arg845=)
c.*40C>T (n.*40C>T)
c.2517C>T (p.Arg839=)
c.2454C>T (p.Arg818=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47337458G>CCA050376MYBPC3c.2535C>G (p.Arg845=)
c.*40C>G (n.*40C>G)
c.2517C>G (p.Arg839=)
c.2454C>G (p.Arg818=)
 dbSNP gnomAD v4
11g.47337458G=CA1969339930MYBPC3c.2535C= (p.Arg845=)
c.*40C= (n.*40C=)
c.2517C= (p.Arg839=)
c.2454C= (p.Arg818=)
11g.47337458G>TCA474429310MYBPC3c.2535C>A (p.Arg845=)
c.*40C>A (n.*40C>A)
c.2517C>A (p.Arg839=)
c.2454C>A (p.Arg818=)
 ClinVar dbSNP gnomAD v4
11g.47337459C>ACA380318170MYBPC3c.2534G>T (p.Arg845Leu)
c.*39G>T (n.*39G>T)
c.2516G>T (p.Arg839Leu)
c.2453G>T (p.Arg818Leu)
 ClinVar
11g.47337459C=CA1969339938MYBPC3c.2534G= (p.Arg845=)
c.*39G= (n.*39G=)
c.2516G= (p.Arg839=)
c.2453G= (p.Arg818=)
11g.47337459C>GCA012536MYBPC3c.2534G>C (p.Arg845Pro)
c.*39G>C (n.*39G>C)
c.2516G>C (p.Arg839Pro)
c.2453G>C (p.Arg818Pro)
 ClinVar dbSNP
11g.47337459C>TCA012528MYBPC3c.2534G>A (p.Arg845His)
c.*39G>A (n.*39G>A)
c.2516G>A (p.Arg839His)
c.2453G>A (p.Arg818His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337460G>ACA012513MYBPC3c.2533C>T (p.Arg845Cys)
c.*38C>T (n.*38C>T)
c.2515C>T (p.Arg839Cys)
c.2452C>T (p.Arg818Cys)
 ClinVar dbSNP gnomAD v4
11g.47337460G>CCA012504MYBPC3c.2533C>G (p.Arg845Gly)
c.*38C>G (n.*38C>G)
c.2515C>G (p.Arg839Gly)
c.2452C>G (p.Arg818Gly)
 ClinVar dbSNP gnomAD v4
11g.47337460G=CA1969339947MYBPC3c.2533C= (p.Arg845=)
c.*38C= (n.*38C=)
c.2515C= (p.Arg839=)
c.2452C= (p.Arg818=)
11g.47337460G>TCA380318171MYBPC3c.2533C>A (p.Arg845Ser)
c.*38C>A (n.*38C>A)
c.2515C>A (p.Arg839Ser)
c.2452C>A (p.Arg818Ser)
 ClinVar dbSNP
11g.47337461C>ACA380318174MYBPC3c.2532G>T (p.Met844Ile)
c.*37G>T (n.*37G>T)
c.2514G>T (p.Met838Ile)
c.2451G>T (p.Met817Ile)
11g.47337461C>GCA380318173MYBPC3c.2532G>C (p.Met844Ile)
c.*37G>C (n.*37G>C)
c.2514G>C (p.Met838Ile)
c.2451G>C (p.Met817Ile)
11g.47337461C>TCA380318172MYBPC3c.2532G>A (p.Met844Ile)
c.*37G>A (n.*37G>A)
c.2514G>A (p.Met838Ile)
c.2451G>A (p.Met817Ile)
 gnomAD v4
11g.47337462A=CA1969339955MYBPC3c.2531T= (p.Met844=)
c.*36T= (n.*36T=)
c.2513T= (p.Met838=)
c.2450T= (p.Met817=)
11g.47337462A>CCA380318177MYBPC3c.2531T>G (p.Met844Arg)
c.*36T>G (n.*36T>G)
c.2513T>G (p.Met838Arg)
c.2450T>G (p.Met817Arg)
11g.47337462A>GCA380318175MYBPC3c.2531T>C (p.Met844Thr)
c.*36T>C (n.*36T>C)
c.2513T>C (p.Met838Thr)
c.2450T>C (p.Met817Thr)
 dbSNP gnomAD v2 gnomAD v4
11g.47337462A>TCA380318176MYBPC3c.2531T>A (p.Met844Lys)
c.*36T>A (n.*36T>A)
c.2513T>A (p.Met838Lys)
c.2450T>A (p.Met817Lys)
 dbSNP gnomAD v3 gnomAD v4
11g.47337463T>ACA380318178MYBPC3c.2530A>T (p.Met844Leu)
c.*35A>T (n.*35A>T)
c.2512A>T (p.Met838Leu)
c.2449A>T (p.Met817Leu)
 ClinVar dbSNP
11g.47337463T>CCA380318179MYBPC3c.2530A>G (p.Met844Val)
c.*35A>G (n.*35A>G)
c.2512A>G (p.Met838Val)
c.2449A>G (p.Met817Val)
 gnomAD v4
11g.47337463T>GCA380318180MYBPC3c.2530A>C (p.Met844Leu)
c.*35A>C (n.*35A>C)
c.2512A>C (p.Met838Leu)
c.2449A>C (p.Met817Leu)
11g.47337465_47337466dupCA2695212757MYBPC3c.2529_2530dup (p.Met844ArgfsTer?)
c.*34_*35dup (n.*34_*35dup)
c.2511_2512dup (p.Met838ArgfsTer?)
c.2448_2449dup (p.Met817ArgfsTer?)
11g.47337464C>ACA380318181MYBPC3c.2529G>T (p.Glu843Asp)
c.*34G>T (n.*34G>T)
c.2511G>T (p.Glu837Asp)
c.2448G>T (p.Glu816Asp)
11g.47337464C=CA1969339960MYBPC3c.2529G= (p.Glu843=)
c.*34G= (n.*34G=)
c.2511G= (p.Glu837=)
c.2448G= (p.Glu816=)
11g.47337464C>GCA380318182MYBPC3c.2529G>C (p.Glu843Asp)
c.*34G>C (n.*34G>C)
c.2511G>C (p.Glu837Asp)
c.2448G>C (p.Glu816Asp)
 ClinVar
11g.47337464C>TCA474429311MYBPC3c.2529G>A (p.Glu843=)
c.*34G>A (n.*34G>A)
c.2511G>A (p.Glu837=)
c.2448G>A (p.Glu816=)
 dbSNP gnomAD v4
11g.47337465T>ACA380318183MYBPC3c.2528A>T (p.Glu843Val)
c.*33A>T (n.*33A>T)
c.2510A>T (p.Glu837Val)
c.2447A>T (p.Glu816Val)
 dbSNP
11g.47337465T>CCA380318184MYBPC3c.2528A>G (p.Glu843Gly)
c.*33A>G (n.*33A>G)
c.2510A>G (p.Glu837Gly)
c.2447A>G (p.Glu816Gly)
 gnomAD v4
11g.47337465T>GCA380318185MYBPC3c.2528A>C (p.Glu843Ala)
c.*33A>C (n.*33A>C)
c.2510A>C (p.Glu837Ala)
c.2447A>C (p.Glu816Ala)
11g.47337465T=CA1969339964MYBPC3c.2528A= (p.Glu843=)
c.*33A= (n.*33A=)
c.2510A= (p.Glu837=)
c.2447A= (p.Glu816=)
11g.47337466C>ACA380318186MYBPC3c.2527G>T (p.Glu843Ter)
c.*32G>T (n.*32G>T)
c.2509G>T (p.Glu837Ter)
c.2446G>T (p.Glu816Ter)
 dbSNP
11g.47337466C=CA1969339968MYBPC3c.2527G= (p.Glu843=)
c.*32G= (n.*32G=)
c.2509G= (p.Glu837=)
c.2446G= (p.Glu816=)
11g.47337466C>GCA380318187MYBPC3c.2527G>C (p.Glu843Gln)
c.*32G>C (n.*32G>C)
c.2509G>C (p.Glu837Gln)
c.2446G>C (p.Glu816Gln)
 ClinVar
11g.47337466C>TCA012486MYBPC3c.2527G>A (p.Glu843Lys)
c.*32G>A (n.*32G>A)
c.2509G>A (p.Glu837Lys)
c.2446G>A (p.Glu816Lys)
 ClinVar dbSNP gnomAD v4
11g.47337466_47337467delinsCGCA1969339972MYBPC3c.2526_2527delinsCG (p.Tyr842=)
c.*31_*32delinsCG (n.*31_*32delinsCG)
c.2508_2509delinsCG (p.Tyr836=)
c.2445_2446delinsCG (p.Tyr815=)
11g.47337467delCA915948147MYBPC3c.2526del (p.Tyr842Ter)
c.*31del (n.*31del)
c.2508del (p.Tyr836Ter)
c.2445del (p.Tyr815Ter)
 ClinVar dbSNP
11g.47337467G>ACA078782MYBPC3c.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
11g.47337467G>CCA380318188MYBPC3c.2526C>G (p.Tyr842Ter)
c.*31C>G (n.*31C>G)
c.2508C>G (p.Tyr836Ter)
c.2445C>G (p.Tyr815Ter)
 ClinVar dbSNP gnomAD v4
11g.47337467G=CA1969339988MYBPC3c.2526C= (p.Tyr842=)
c.*31C= (n.*31C=)
c.2508C= (p.Tyr836=)
c.2445C= (p.Tyr815=)
11g.47337467G>TCA380318189MYBPC3c.2526C>A (p.Tyr842Ter)
c.*31C>A (n.*31C>A)
c.2508C>A (p.Tyr836Ter)
c.2445C>A (p.Tyr815Ter)
 ClinVar dbSNP
11g.47337468T>ACA380318190MYBPC3c.2525A>T (p.Tyr842Phe)
c.*30A>T (n.*30A>T)
c.2507A>T (p.Tyr836Phe)
c.2444A>T (p.Tyr815Phe)
11g.47337468T>CCA012476MYBPC3c.2525A>G (p.Tyr842Cys)
c.*30A>G (n.*30A>G)
c.2507A>G (p.Tyr836Cys)
c.2444A>G (p.Tyr815Cys)
 ClinVar dbSNP gnomAD v4
11g.47337468T>GCA380318191MYBPC3c.2525A>C (p.Tyr842Ser)
c.*30A>C (n.*30A>C)
c.2507A>C (p.Tyr836Ser)
c.2444A>C (p.Tyr815Ser)
11g.47337468T=CA1969339997MYBPC3c.2525A= (p.Tyr842=)
c.*30A= (n.*30A=)
c.2507A= (p.Tyr836=)
c.2444A= (p.Tyr815=)
11g.47337469A=CA1969340011MYBPC3c.2524T= (p.Tyr842=)
c.*29T= (n.*29T=)
c.2506T= (p.Tyr836=)
c.2443T= (p.Tyr815=)
11g.47337469A>CCA380318192MYBPC3c.2524T>G (p.Tyr842Asp)
c.*29T>G (n.*29T>G)
c.2506T>G (p.Tyr836Asp)
c.2443T>G (p.Tyr815Asp)
11g.47337469A>GCA380318193MYBPC3c.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
11g.47337469A>TCA380318194MYBPC3c.2524T>A (p.Tyr842Asn)
c.*29T>A (n.*29T>A)
c.2506T>A (p.Tyr836Asn)
c.2443T>A (p.Tyr815Asn)
11g.47337469dupCA012465MYBPC3c.2524dup (p.Tyr842LeufsTer?)
c.*29dup (n.*29dup)
c.2506dup (p.Tyr836LeufsTer?)
c.2443dup (p.Tyr815LeufsTer?)
 ClinVar dbSNP
11g.47337470C>ACA474429312MYBPC3c.2523G>T (p.Val841=)
c.*28G>T (n.*28G>T)
c.2505G>T (p.Val835=)
c.2442G>T (p.Val814=)
11g.47337470C>GCA474429313MYBPC3c.2523G>C (p.Val841=)
c.*28G>C (n.*28G>C)
c.2505G>C (p.Val835=)
c.2442G>C (p.Val814=)
11g.47337470C>TCA474429314MYBPC3c.2523G>A (p.Val841=)
c.*28G>A (n.*28G>A)
c.2505G>A (p.Val835=)
c.2442G>A (p.Val814=)
 ClinVar
11g.47337473_47337475delCA2613401208MYBPC3c.2521_2523del (p.Val841del)
c.*26_*28del (n.*26_*28del)
c.2503_2505del (p.Val835del)
c.2440_2442del (p.Val814del)
 gnomAD v4
11g.47337471A=CA1969340014MYBPC3c.2522T= (p.Val841=)
c.*27T= (n.*27T=)
c.2504T= (p.Val835=)
c.2441T= (p.Val814=)
11g.47337471A>CCA380318195MYBPC3c.2522T>G (p.Val841Gly)
c.*27T>G (n.*27T>G)
c.2504T>G (p.Val835Gly)
c.2441T>G (p.Val814Gly)
11g.47337471A>GCA221688459MYBPC3c.2522T>C (p.Val841Ala)
c.*27T>C (n.*27T>C)
c.2504T>C (p.Val835Ala)
c.2441T>C (p.Val814Ala)
 dbSNP gnomAD v4
11g.47337471A>TCA380318196MYBPC3c.2522T>A (p.Val841Glu)
c.*27T>A (n.*27T>A)
c.2504T>A (p.Val835Glu)
c.2441T>A (p.Val814Glu)
11g.47337472C>ACA380318197MYBPC3c.2521G>T (p.Val841Leu)
c.*26G>T (n.*26G>T)
c.2503G>T (p.Val835Leu)
c.2440G>T (p.Val814Leu)
11g.47337472C>GCA380318198MYBPC3c.2521G>C (p.Val841Leu)
c.*26G>C (n.*26G>C)
c.2503G>C (p.Val835Leu)
c.2440G>C (p.Val814Leu)
11g.47337472C>TCA380318199MYBPC3c.2521G>A (p.Val841Met)
c.*26G>A (n.*26G>A)
c.2503G>A (p.Val835Met)
c.2440G>A (p.Val814Met)
 gnomAD v4
11g.47337473delCA2695212758MYBPC3c.2521del (p.Val841CysfsTer?)
c.*26del (n.*26del)
c.2503del (p.Val835CysfsTer?)
c.2440del (p.Val814CysfsTer?)
11g.47337472_47337474delinsTGCA2573331896MYBPC3c.2519_2521delinsCA (p.Val840AlafsTer?)
c.*24_*26delinsCA (n.*24_*26delinsCA)
c.2501_2503delinsCA (p.Val834AlafsTer?)
c.2438_2440delinsCA (p.Val813AlafsTer?)
 ClinVar
11g.47337473C>ACA474429315MYBPC3c.2520G>T (p.Val840=)
c.*25G>T (n.*25G>T)
c.2502G>T (p.Val834=)
c.2439G>T (p.Val813=)
11g.47337473C>GCA474429316MYBPC3c.2520G>C (p.Val840=)
c.*25G>C (n.*25G>C)
c.2502G>C (p.Val834=)
c.2439G>C (p.Val813=)
11g.47337473C>TCA474429317MYBPC3c.2520G>A (p.Val840=)
c.*25G>A (n.*25G>A)
c.2502G>A (p.Val834=)
c.2439G>A (p.Val813=)
11g.47337474A>CCA380318201MYBPC3c.2519T>G (p.Val840Gly)
c.*24T>G (n.*24T>G)
c.2501T>G (p.Val834Gly)
c.2438T>G (p.Val813Gly)
11g.47337474A>GCA380318202MYBPC3c.2519T>C (p.Val840Ala)
c.*24T>C (n.*24T>C)
c.2501T>C (p.Val834Ala)
c.2438T>C (p.Val813Ala)
11g.47337474A>TCA380318200MYBPC3c.2519T>A (p.Val840Glu)
c.*24T>A (n.*24T>A)
c.2501T>A (p.Val834Glu)
c.2438T>A (p.Val813Glu)
11g.47337474_47337475insTGCA2613401246MYBPC3c.2518_2519insCA (p.Val840AlafsTer?)
c.*23_*24insCA (n.*23_*24insCA)
c.2500_2501insCA (p.Val834AlafsTer?)
c.2437_2438insCA (p.Val813AlafsTer?)
 gnomAD v4
11g.47337475C>ACA380318203MYBPC3c.2518G>T (p.Val840Leu)
c.*23G>T (n.*23G>T)
c.2500G>T (p.Val834Leu)
c.2437G>T (p.Val813Leu)
 gnomAD v4
11g.47337475C=CA1969340023MYBPC3c.2518G= (p.Val840=)
c.*23G= (n.*23G=)
c.2500G= (p.Val834=)
c.2437G= (p.Val813=)
11g.47337475C>GCA380318204MYBPC3c.2518G>C (p.Val840Leu)
c.*23G>C (n.*23G>C)
c.2500G>C (p.Val834Leu)
c.2437G>C (p.Val813Leu)
11g.47337475C>TCA012456MYBPC3c.2518G>A (p.Val840Met)
c.*23G>A (n.*23G>A)
c.2500G>A (p.Val834Met)
c.2437G>A (p.Val813Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
11g.47337476G>ACA012448MYBPC3c.2517C>T (p.Gly839=)
c.*22C>T (n.*22C>T)
c.2499C>T (p.Gly833=)
c.2436C>T (p.Gly812=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337476G>CCA474429318MYBPC3c.2517C>G (p.Gly839=)
c.*22C>G (n.*22C>G)
c.2499C>G (p.Gly833=)
c.2436C>G (p.Gly812=)
 dbSNP gnomAD v3 gnomAD v4
11g.47337476G=CA1969340032MYBPC3c.2517C= (p.Gly839=)
c.*22C= (n.*22C=)
c.2499C= (p.Gly833=)
c.2436C= (p.Gly812=)
11g.47337476G>TCA474429319MYBPC3c.2517C>A (p.Gly839=)
c.*22C>A (n.*22C>A)
c.2499C>A (p.Gly833=)
c.2436C>A (p.Gly812=)
 ClinVar gnomAD v4
11g.47337477C>ACA380318205MYBPC3c.2516G>T (p.Gly839Val)
c.*21G>T (n.*21G>T)
c.2498G>T (p.Gly833Val)
c.2435G>T (p.Gly812Val)
11g.47337477C=CA1969340039MYBPC3c.2516G= (p.Gly839=)
c.*21G= (n.*21G=)
c.2498G= (p.Gly833=)
c.2435G= (p.Gly812=)
11g.47337477C>GCA380318206MYBPC3c.2516G>C (p.Gly839Ala)
c.*21G>C (n.*21G>C)
c.2498G>C (p.Gly833Ala)
c.2435G>C (p.Gly812Ala)
11g.47337477C>TCA380318207MYBPC3c.2516G>A (p.Gly839Asp)
c.*21G>A (n.*21G>A)
c.2498G>A (p.Gly833Asp)
c.2435G>A (p.Gly812Asp)
 dbSNP gnomAD v4
11g.47337478_47337512delCA2573051151MYBPC3c.2482_2516del (p.Glu828ArgfsTer?)
c.2414_*21del
c.2464_2498del (p.Glu822ArgfsTer?)
c.2401_2435del (p.Glu801ArgfsTer?)
11g.47337478C>ACA380318209MYBPC3c.2515G>T (p.Gly839Cys)
c.*20G>T (n.*20G>T)
c.2497G>T (p.Gly833Cys)
c.2434G>T (p.Gly812Cys)
11g.47337478C=CA1969340042MYBPC3c.2515G= (p.Gly839=)
c.*20G= (n.*20G=)
c.2497G= (p.Gly833=)
c.2434G= (p.Gly812=)
11g.47337478C>GCA380318208MYBPC3c.2515G>C (p.Gly839Arg)
c.*20G>C (n.*20G>C)
c.2497G>C (p.Gly833Arg)
c.2434G>C (p.Gly812Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.47337478C>TCA050296MYBPC3c.2515G>A (p.Gly839Ser)
c.*20G>A (n.*20G>A)
c.2497G>A (p.Gly833Ser)
c.2434G>A (p.Gly812Ser)
 ClinVar gnomAD v4
11g.47337479C>ACA380318210MYBPC3c.2514G>T (p.Glu838Asp)
c.*19G>T (n.*19G>T)
c.2496G>T (p.Glu832Asp)
c.2433G>T (p.Glu811Asp)
11g.47337479C>GCA380318211MYBPC3c.2514G>C (p.Glu838Asp)
c.*19G>C (n.*19G>C)
c.2496G>C (p.Glu832Asp)
c.2433G>C (p.Glu811Asp)
 gnomAD v4
11g.47337479C>TCA474429320MYBPC3c.2514G>A (p.Glu838=)
c.*19G>A (n.*19G>A)
c.2496G>A (p.Glu832=)
c.2433G>A (p.Glu811=)
11g.47337479_47337483delinsCTCGACA1969340045MYBPC3c.2510_2514delinsTCGAG (p.Ile837=)
c.*15_*19delinsTCGAG (n.*15_*19delinsTCGAG)
c.2492_2496delinsTCGAG (p.Ile831=)
c.2429_2433delinsTCGAG (p.Ile810=)
11g.47337480T>ACA380318212MYBPC3c.2513A>T (p.Glu838Val)
c.*18A>T (n.*18A>T)
c.2495A>T (p.Glu832Val)
c.2432A>T (p.Glu811Val)
11g.47337480T>CCA380318213MYBPC3c.2513A>G (p.Glu838Gly)
c.*18A>G (n.*18A>G)
c.2495A>G (p.Glu832Gly)
c.2432A>G (p.Glu811Gly)
11g.47337480T>GCA380318214MYBPC3c.2513A>C (p.Glu838Ala)
c.*18A>C (n.*18A>C)
c.2495A>C (p.Glu832Ala)
c.2432A>C (p.Glu811Ala)
11g.47337480T=CA1969340050MYBPC3c.2513A= (p.Glu838=)
c.*18A= (n.*18A=)
c.2495A= (p.Glu832=)
c.2432A= (p.Glu811=)
11g.47337482_47337485delCA916081640MYBPC3c.2510_2513del (p.Ile837ArgfsTer?)
c.*15_*18del (n.*15_*18del)
c.2492_2495del (p.Ile831ArgfsTer?)
c.2429_2432del (p.Ile810ArgfsTer?)
 ClinVar dbSNP
11g.47337481C>ACA380318215MYBPC3c.2512G>T (p.Glu838Ter)
c.*17G>T (n.*17G>T)
c.2494G>T (p.Glu832Ter)
c.2431G>T (p.Glu811Ter)
 ClinVar dbSNP
11g.47337481C=CA1969340066MYBPC3c.2512G= (p.Glu838=)
c.*17G= (n.*17G=)
c.2494G= (p.Glu832=)
c.2431G= (p.Glu811=)
11g.47337481C>GCA012426MYBPC3c.2512G>C (p.Glu838Gln)
c.*17G>C (n.*17G>C)
c.2494G>C (p.Glu832Gln)
c.2431G>C (p.Glu811Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337481C>TCA012421MYBPC3c.2512G>A (p.Glu838Lys)
c.*17G>A (n.*17G>A)
c.2494G>A (p.Glu832Lys)
c.2431G>A (p.Glu811Lys)
 ClinVar dbSNP gnomAD v4
11g.47337481dupCA676994848MYBPC3c.2512dup (p.Glu838GlyfsTer?)
c.*17dup (n.*17dup)
c.2494dup (p.Glu832GlyfsTer?)
c.2431dup (p.Glu811GlyfsTer?)
 ClinVar dbSNP gnomAD v4
11g.47337481_47337482delCA2838688125MYBPC3c.2511_2512del (p.Glu838GlyfsTer?)
c.*16_*17del (n.*16_*17del)
c.2493_2494del (p.Glu832GlyfsTer?)
c.2430_2431del (p.Glu811GlyfsTer?)
11g.47337481_47337482delinsCGCA1969340061MYBPC3c.2511_2512delinsCG (p.Ile837=)
c.*16_*17delinsCG (n.*16_*17delinsCG)
c.2493_2494delinsCG (p.Ile831=)
c.2430_2431delinsCG (p.Ile810=)
11g.47337482delCA012413MYBPC3c.2511del (p.Ile837MetfsTer?)
c.*16del (n.*16del)
c.2493del (p.Ile831MetfsTer?)
c.2430del (p.Ile810MetfsTer?)
 ClinVar dbSNP
11g.47337482G>ACA078774MYBPC3c.2511C>T (p.Ile837=)
c.*16C>T (n.*16C>T)
c.2493C>T (p.Ile831=)
c.2430C>T (p.Ile810=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337482G>CCA380318216MYBPC3c.2511C>G (p.Ile837Met)
c.*16C>G (n.*16C>G)
c.2493C>G (p.Ile831Met)
c.2430C>G (p.Ile810Met)
 ClinVar gnomAD v4
11g.47337482G=CA1969340075MYBPC3c.2511C= (p.Ile837=)
c.*16C= (n.*16C=)
c.2493C= (p.Ile831=)
c.2430C= (p.Ile810=)
11g.47337482G>TCA474429321MYBPC3c.2511C>A (p.Ile837=)
c.*16C>A (n.*16C>A)
c.2493C>A (p.Ile831=)
c.2430C>A (p.Ile810=)
11g.47337482dupCA2840399602MYBPC3c.2511dup (p.Glu838ArgfsTer?)
c.*16dup (n.*16dup)
c.2493dup (p.Glu832ArgfsTer?)
c.2430dup (p.Glu811ArgfsTer?)
11g.47337483A>CCA380318217MYBPC3c.2510T>G (p.Ile837Ser)
c.*15T>G (n.*15T>G)
c.2492T>G (p.Ile831Ser)
c.2429T>G (p.Ile810Ser)
11g.47337483A>GCA380318218MYBPC3c.2510T>C (p.Ile837Thr)
c.*15T>C (n.*15T>C)
c.2492T>C (p.Ile831Thr)
c.2429T>C (p.Ile810Thr)
11g.47337483A>TCA380318219MYBPC3c.2510T>A (p.Ile837Asn)
c.*15T>A (n.*15T>A)
c.2492T>A (p.Ile831Asn)
c.2429T>A (p.Ile810Asn)
11g.47337484T>ACA380318220MYBPC3c.2509A>T (p.Ile837Phe)
c.*14A>T (n.*14A>T)
c.2491A>T (p.Ile831Phe)
c.2428A>T (p.Ile810Phe)
11g.47337484T>CCA380318221MYBPC3c.2509A>G (p.Ile837Val)
c.*14A>G (n.*14A>G)
c.2491A>G (p.Ile831Val)
c.2428A>G (p.Ile810Val)
11g.47337484T>GCA380318222MYBPC3c.2509A>C (p.Ile837Leu)
c.*14A>C (n.*14A>C)
c.2491A>C (p.Ile831Leu)
c.2428A>C (p.Ile810Leu)
11g.47337485C>ACA380318223MYBPC3c.2508G>T (p.Met836Ile)
c.*13G>T (n.*13G>T)
c.2490G>T (p.Met830Ile)
c.2427G>T (p.Met809Ile)
11g.47337485C>GCA380318224MYBPC3c.2508G>C (p.Met836Ile)
c.*13G>C (n.*13G>C)
c.2490G>C (p.Met830Ile)
c.2427G>C (p.Met809Ile)
11g.47337485C>TCA380318225MYBPC3c.2508G>A (p.Met836Ile)
c.*13G>A (n.*13G>A)
c.2490G>A (p.Met830Ile)
c.2427G>A (p.Met809Ile)
11g.47337486A=CA1969340080MYBPC3c.2507T= (p.Met836=)
c.*12T= (n.*12T=)
c.2489T= (p.Met830=)
c.2426T= (p.Met809=)
11g.47337486A>CCA380318226MYBPC3c.2507T>G (p.Met836Arg)
c.*12T>G (n.*12T>G)
c.2489T>G (p.Met830Arg)
c.2426T>G (p.Met809Arg)
11g.47337486A>GCA380318228MYBPC3c.2507T>C (p.Met836Thr)
c.*12T>C (n.*12T>C)
c.2489T>C (p.Met830Thr)
c.2426T>C (p.Met809Thr)
 ClinVar dbSNP gnomAD v4
11g.47337486A>TCA380318227MYBPC3c.2507T>A (p.Met836Lys)
c.*12T>A (n.*12T>A)
c.2489T>A (p.Met830Lys)
c.2426T>A (p.Met809Lys)
11g.47337487T>ACA380318229MYBPC3c.2506A>T (p.Met836Leu)
c.*11A>T (n.*11A>T)
c.2488A>T (p.Met830Leu)
c.2425A>T (p.Met809Leu)
11g.47337487T>CCA380318230MYBPC3c.2506A>G (p.Met836Val)
c.*11A>G (n.*11A>G)
c.2488A>G (p.Met830Val)
c.2425A>G (p.Met809Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47337487T>GCA380318231MYBPC3c.2506A>C (p.Met836Leu)
c.*11A>C (n.*11A>C)
c.2488A>C (p.Met830Leu)
c.2425A>C (p.Met809Leu)
11g.47337487T=CA1969340083MYBPC3c.2506A= (p.Met836=)
c.*11A= (n.*11A=)
c.2488A= (p.Met830=)
c.2425A= (p.Met809=)
11g.47337487_47337489delCA2825002006MYBPC3c.2504_2506del (p.Arg835_Met836delinsLeu)
c.*9_*11del (n.*9_*11del)
c.2486_2488del (p.Arg829_Met830delinsLeu)
c.2423_2425del (p.Arg808_Met809delinsLeu)
 ClinVar
11g.47337488G>ACA078771MYBPC3c.2505C>T (p.Arg835=)
c.*10C>T (n.*10C>T)
c.2487C>T (p.Arg829=)
c.2424C>T (p.Arg808=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337488G>CCA474429322MYBPC3c.2505C>G (p.Arg835=)
c.*10C>G (n.*10C>G)
c.2487C>G (p.Arg829=)
c.2424C>G (p.Arg808=)
11g.47337488G=CA1969340098MYBPC3c.2505C= (p.Arg835=)
c.*10C= (n.*10C=)
c.2487C= (p.Arg829=)
c.2424C= (p.Arg808=)
11g.47337488G>TCA474429323MYBPC3c.2505C>A (p.Arg835=)
c.*10C>A (n.*10C>A)
c.2487C>A (p.Arg829=)
c.2424C>A (p.Arg808=)
 ClinVar dbSNP gnomAD v4
11g.47337488_47337489delinsAACA913187707MYBPC3c.2504_2505delinsTT (p.Arg835Leu)
c.*9_*10delinsTT (n.*9_*10delinsTT)
c.2486_2487delinsTT (p.Arg829Leu)
c.2423_2424delinsTT (p.Arg808Leu)
 ClinVar dbSNP
11g.47337488_47337489delinsGCCA1969340095MYBPC3c.2504_2505delinsGC (p.Arg835=)
c.*9_*10delinsGC (n.*9_*10delinsGC)
c.2486_2487delinsGC (p.Arg829=)
c.2423_2424delinsGC (p.Arg808=)
11g.47337488_47337491delinsGCGCCA1969340093MYBPC3c.2502_2505delinsGCGC (p.Arg834=)
c.*7_*10delinsGCGC (n.*7_*10delinsGCGC)
c.2484_2487delinsGCGC (p.Arg828=)
c.2421_2424delinsGCGC (p.Arg807=)
11g.47337489delCA10576886MYBPC3c.2504del (p.Arg835ProfsTer2)
c.*9del (n.*9del)
c.2486del (p.Arg829ProfsTer2)
c.2423del (p.Arg808ProfsTer2)
 ClinVar dbSNP
11g.47337489C>ACA078769MYBPC3c.2504G>T (p.Arg835Leu)
c.*9G>T (n.*9G>T)
c.2486G>T (p.Arg829Leu)
c.2423G>T (p.Arg808Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337489C=CA1969340108MYBPC3c.2504G= (p.Arg835=)
c.*9G= (n.*9G=)
c.2486G= (p.Arg829=)
c.2423G= (p.Arg808=)
11g.47337489C>GCA380318232MYBPC3c.2504G>C (p.Arg835Pro)
c.*9G>C (n.*9G>C)
c.2486G>C (p.Arg829Pro)
c.2423G>C (p.Arg808Pro)
11g.47337489C>TCA078767MYBPC3c.2504G>A (p.Arg835His)
c.*9G>A (n.*9G>A)
c.2486G>A (p.Arg829His)
c.2423G>A (p.Arg808His)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47337492_47337494delCA1139659405MYBPC3c.2502_2504del (p.Arg835del)
c.*7_*9del (n.*7_*9del)
c.2484_2486del (p.Arg829del)
c.2421_2423del (p.Arg808del)
 ClinVar dbSNP
11g.47337490delCA2580084287MYBPC3c.2503del (p.Arg835AlafsTer2)
c.*8del (n.*8del)
c.2485del (p.Arg829AlafsTer2)
c.2422del (p.Arg808AlafsTer2)
 ClinVar
11g.47337490G>ACA078764MYBPC3c.2503C>T (p.Arg835Cys)
c.*8C>T (n.*8C>T)
c.2485C>T (p.Arg829Cys)
c.2422C>T (p.Arg808Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47337490G>CCA380318233MYBPC3c.2503C>G (p.Arg835Gly)
c.*8C>G (n.*8C>G)
c.2485C>G (p.Arg829Gly)
c.2422C>G (p.Arg808Gly)
 ClinVar dbSNP
11g.47337490G=CA1969340121MYBPC3c.2503C= (p.Arg835=)
c.*8C= (n.*8C=)
c.2485C= (p.Arg829=)
c.2422C= (p.Arg808=)
11g.47337490G>TCA078761MYBPC3c.2503C>A (p.Arg835Ser)
c.*8C>A (n.*8C>A)
c.2485C>A (p.Arg829Ser)
c.2422C>A (p.Arg808Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47337490_47337491delinsAACA913184888MYBPC3c.2502_2503delinsTT (p.Arg835Cys)
c.*7_*8delinsTT (n.*7_*8delinsTT)
c.2484_2485delinsTT (p.Arg829Cys)
c.2421_2422delinsTT (p.Arg808Cys)
11g.47337491C>ACA050229MYBPC3c.2502G>T (p.Arg834=)
c.*7G>T (n.*7G>T)
c.2484G>T (p.Arg828=)
c.2421G>T (p.Arg807=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47337491C=CA1969340123MYBPC3c.2502G= (p.Arg834=)
c.*7G= (n.*7G=)
c.2484G= (p.Arg828=)
c.2421G= (p.Arg807=)
11g.47337491C>GCA474429325MYBPC3c.2502G>C (p.Arg834=)
c.*7G>C (n.*7G>C)
c.2484G>C (p.Arg828=)
c.2421G>C (p.Arg807=)
11g.47337491C>TCA474429324MYBPC3c.2502G>A (p.Arg834=)
c.*7G>A (n.*7G>A)
c.2484G>A (p.Arg828=)
c.2421G>A (p.Arg807=)
 dbSNP gnomAD v2 gnomAD v4
11g.47337492delCA2695212759MYBPC3c.2502del (p.Arg835AlafsTer2)
c.*7del (n.*7del)
c.2484del (p.Arg829AlafsTer2)
c.2421del (p.Arg808AlafsTer2)
11g.47337492C>ACA050217MYBPC3c.2501G>T (p.Arg834Leu)
c.*6G>T (n.*6G>T)
c.2483G>T (p.Arg828Leu)
c.2420G>T (p.Arg807Leu)
 dbSNP gnomAD v2 gnomAD v4
11g.47337492C=CA1969340128MYBPC3c.2501G= (p.Arg834=)
c.*6G= (n.*6G=)
c.2483G= (p.Arg828=)
c.2420G= (p.Arg807=)
11g.47337492C>GCA380318234MYBPC3c.2501G>C (p.Arg834Pro)
c.*6G>C (n.*6G>C)
c.2483G>C (p.Arg828Pro)
c.2420G>C (p.Arg807Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47337492C>TCA050206MYBPC3c.2501G>A (p.Arg834Gln)
c.*6G>A (n.*6G>A)
c.2483G>A (p.Arg828Gln)
c.2420G>A (p.Arg807Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337495_47337496delCA2580615696MYBPC3c.2500_2501del (p.Arg834AlafsTer?)
c.*5_*6del (n.*5_*6del)
c.2482_2483del (p.Arg828AlafsTer?)
c.2419_2420del (p.Arg807AlafsTer?)
 ClinVar
11g.47337493G>ACA050196MYBPC3c.2500C>T (p.Arg834Trp)
c.*5C>T (n.*5C>T)
c.2482C>T (p.Arg828Trp)
c.2419C>T (p.Arg807Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337493G>CCA380318235MYBPC3c.2500C>G (p.Arg834Gly)
c.*5C>G (n.*5C>G)
c.2482C>G (p.Arg828Gly)
c.2419C>G (p.Arg807Gly)
11g.47337493G=CA1969340130MYBPC3c.2500C= (p.Arg834=)
c.*5C= (n.*5C=)
c.2482C= (p.Arg828=)
c.2419C= (p.Arg807=)
11g.47337493G>TCA050181MYBPC3c.2500C>A (p.Arg834=)
c.*5C>A (n.*5C>A)
c.2482C>A (p.Arg828=)
c.2419C>A (p.Arg807=)
11g.47337494C>ACA050125MYBPC3c.2499G>T (p.Ala833=)
c.*4G>T (n.*4G>T)
c.2481G>T (p.Ala827=)
c.2418G>T (p.Ala806=)
11g.47337494C=CA1969340134MYBPC3c.2499G= (p.Ala833=)
c.*4G= (n.*4G=)
c.2481G= (p.Ala827=)
c.2418G= (p.Ala806=)
11g.47337494C>GCA474429326MYBPC3c.2499G>C (p.Ala833=)
c.*4G>C (n.*4G>C)
c.2481G>C (p.Ala827=)
c.2418G>C (p.Ala806=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47337494C>TCA012403MYBPC3c.2499G>A (p.Ala833=)
c.*4G>A (n.*4G>A)
c.2481G>A (p.Ala827=)
c.2418G>A (p.Ala806=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47337495G>ACA012393MYBPC3c.2498C>T (p.Ala833Val)
c.*3C>T (n.*3C>T)
c.2480C>T (p.Ala827Val)
c.2417C>T (p.Ala806Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337495G>CCA380318236MYBPC3c.2498C>G (p.Ala833Gly)
c.*3C>G (n.*3C>G)
c.2480C>G (p.Ala827Gly)
c.2417C>G (p.Ala806Gly)
 gnomAD v4
11g.47337495G=CA1969340137MYBPC3c.2498C= (p.Ala833=)
c.*3C= (n.*3C=)
c.2480C= (p.Ala827=)
c.2417C= (p.Ala806=)
11g.47337495G>TCA380318237MYBPC3c.2498C>A (p.Ala833Glu)
c.*3C>A (n.*3C>A)
c.2480C>A (p.Ala827Glu)
c.2417C>A (p.Ala806Glu)
11g.47337496C>ACA380318238MYBPC3c.2497G>T (p.Ala833Ser)
c.*2G>T (n.*2G>T)
c.2479G>T (p.Ala827Ser)
c.2416G>T (p.Ala806Ser)
11g.47337496C=CA1969340139MYBPC3c.2497G= (p.Ala833=)
c.*2G= (n.*2G=)
c.2479G= (p.Ala827=)
c.2416G= (p.Ala806=)
11g.47337496C>GCA380318239MYBPC3c.2497G>C (p.Ala833Pro)
c.*2G>C (n.*2G>C)
c.2479G>C (p.Ala827Pro)
c.2416G>C (p.Ala806Pro)
11g.47337496C>TCA012381MYBPC3c.2497G>A (p.Ala833Thr)
c.*2G>A (n.*2G>A)
c.2479G>A (p.Ala827Thr)
c.2416G>A (p.Ala806Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337497T>ACA380318240MYBPC3c.2496A>T (p.Glu832Asp)
c.*1A>T (n.*1A>T)
c.2478A>T (p.Glu826Asp)
c.2415A>T (p.Glu805Asp)
11g.47337497T>CCA474429327MYBPC3c.2496A>G (p.Glu832=)
c.*1A>G (n.*1A>G)
c.2478A>G (p.Glu826=)
c.2415A>G (p.Glu805=)
11g.47337497T>GCA380318241MYBPC3c.2496A>C (p.Glu832Asp)
c.*1A>C (n.*1A>C)
c.2478A>C (p.Glu826Asp)
c.2415A>C (p.Glu805Asp)
11g.47337498T>ACA380318242MYBPC3c.2495A>T (p.Glu832Val)
c.2427A>T (p.Ter809Cys)
c.2477A>T (p.Glu826Val)
c.2414A>T (p.Glu805Val)
11g.47337498T>CCA380318244MYBPC3c.2495A>G (p.Glu832Gly)
c.2427A>G (p.Ter809Trp)
c.2477A>G (p.Glu826Gly)
c.2414A>G (p.Glu805Gly)
11g.47337498T>GCA380318243MYBPC3c.2495A>C (p.Glu832Ala)
c.2427A>C (p.Ter809Cys)
c.2477A>C (p.Glu826Ala)
c.2414A>C (p.Glu805Ala)
11g.47337499C>ACA380318245MYBPC3c.2494G>T (p.Glu832Ter)
c.2426G>T (p.Ter809Leu)
c.2476G>T (p.Glu826Ter)
c.2413G>T (p.Glu805Ter)
 ClinVar dbSNP
11g.47337499C>GCA380318246MYBPC3c.2494G>C (p.Glu832Gln)
c.2426G>C (p.Ter809Ser)
c.2476G>C (p.Glu826Gln)
c.2413G>C (p.Glu805Gln)
11g.47337499C>TCA050048MYBPC3c.2494G>A (p.Glu832Lys)
c.2426G>A (p.Ter809=)
c.2476G>A (p.Glu826Lys)
c.2413G>A (p.Glu805Lys)
 gnomAD v4
11g.47337500A=CA1969340141MYBPC3c.2493T= (p.His831=)
c.2425T= (p.Ter809=)
c.2475T= (p.His825=)
c.2412T= (p.His804=)
11g.47337500A>CCA380318247MYBPC3c.2493T>G (p.His831Gln)
c.2425T>G (p.Ter809Gly)
c.2475T>G (p.His825Gln)
c.2412T>G (p.His804Gln)
 dbSNP gnomAD v3 gnomAD v4
11g.47337500A>GCA474429328MYBPC3c.2493T>C (p.His831=)
c.2425T>C (p.Ter809Arg)
c.2475T>C (p.His825=)
c.2412T>C (p.His804=)
11g.47337500A>TCA380318248MYBPC3c.2493T>A (p.His831Gln)
c.2425T>A (p.Ter809Arg)
c.2475T>A (p.His825Gln)
c.2412T>A (p.His804Gln)
11g.47337501T>ACA380318249MYBPC3c.2492A>T (p.His831Leu)
c.2424A>T (p.Ser808=)
c.2474A>T (p.His825Leu)
c.2411A>T (p.His804Leu)
11g.47337501T>CCA380318251MYBPC3c.2492A>G (p.His831Arg)
c.2424A>G (p.Ser808=)
c.2474A>G (p.His825Arg)
c.2411A>G (p.His804Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.47337501T>GCA380318250MYBPC3c.2492A>C (p.His831Pro)
c.2424A>C (p.Ser808=)
c.2474A>C (p.His825Pro)
c.2411A>C (p.His804Pro)
11g.47337501T=CA1969340143MYBPC3c.2492A= (p.His831=)
c.2424A= (p.Ser808=)
c.2474A= (p.His825=)
c.2411A= (p.His804=)
11g.47337502G>ACA078752MYBPC3c.2491C>T (p.His831Tyr)
c.2423C>T (p.Ser808Leu)
c.2473C>T (p.His825Tyr)
c.2410C>T (p.His804Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47337502G>CCA380318252MYBPC3c.2491C>G (p.His831Asp)
c.2423C>G (p.Ser808Ter)
c.2473C>G (p.His825Asp)
c.2410C>G (p.His804Asp)
11g.47337502G=CA1969340145MYBPC3c.2491C= (p.His831=)
c.2423C= (p.Ser808=)
c.2473C= (p.His825=)
c.2410C= (p.His804=)
11g.47337502G>TCA380318253MYBPC3c.2491C>A (p.His831Asn)
c.2423C>A (p.Ser808Ter)
c.2473C>A (p.His825Asn)
c.2410C>A (p.His804Asn)
11g.47337503A>CCA380318254MYBPC3c.2490T>G (p.Ser830Arg)
c.2422T>G (p.Ser808Ala)
c.2472T>G (p.Ser824Arg)
c.2409T>G (p.Ser803Arg)
11g.47337503A>GCA474429329MYBPC3c.2490T>C (p.Ser830=)
c.2422T>C (p.Ser808Pro)
c.2472T>C (p.Ser824=)
c.2409T>C (p.Ser803=)
11g.47337503A>TCA380318255MYBPC3c.2490T>A (p.Ser830Arg)
c.2422T>A (p.Ser808Thr)
c.2472T>A (p.Ser824Arg)
c.2409T>A (p.Ser803Arg)
11g.47337503dupCA012366MYBPC3c.2490dup (p.His831SerfsTer2)
c.2422dup (p.Ser808PhefsTer7)
c.2472dup (p.His825SerfsTer2)
c.2409dup (p.His804SerfsTer2)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337504delCA2695212760MYBPC3c.2489del (p.Ser830IlefsTer7)
c.2421del (p.Glu807AspfsTer?)
c.2471del (p.Ser824IlefsTer7)
c.2408del (p.Ser803IlefsTer7)
11g.47337504C>ACA380318256MYBPC3c.2489G>T (p.Ser830Ile)
c.2421G>T (p.Glu807Asp)
c.2471G>T (p.Ser824Ile)
c.2408G>T (p.Ser803Ile)
11g.47337504C=CA1969340150MYBPC3c.2489G= (p.Ser830=)
c.2421G= (p.Glu807=)
c.2471G= (p.Ser824=)
c.2408G= (p.Ser803=)
11g.47337504C>GCA380318257MYBPC3c.2489G>C (p.Ser830Thr)
c.2421G>C (p.Glu807Asp)
c.2471G>C (p.Ser824Thr)
c.2408G>C (p.Ser803Thr)
11g.47337504C>TCA078749MYBPC3c.2489G>A (p.Ser830Asn)
c.2421G>A (p.Glu807=)
c.2471G>A (p.Ser824Asn)
c.2408G>A (p.Ser803Asn)
 dbSNP ExAC gnomAD v2
11g.47337505T>ACA380318258MYBPC3c.2488A>T (p.Ser830Cys)
c.2420A>T (p.Glu807Val)
c.2470A>T (p.Ser824Cys)
c.2407A>T (p.Ser803Cys)
 dbSNP gnomAD v3 gnomAD v4
11g.47337505T>CCA380318259MYBPC3c.2488A>G (p.Ser830Gly)
c.2420A>G (p.Glu807Gly)
c.2470A>G (p.Ser824Gly)
c.2407A>G (p.Ser803Gly)
11g.47337505T>GCA380318260MYBPC3c.2488A>C (p.Ser830Arg)
c.2420A>C (p.Glu807Ala)
c.2470A>C (p.Ser824Arg)
c.2407A>C (p.Ser803Arg)
11g.47337505T=CA1969340154MYBPC3c.2488A= (p.Ser830=)
c.2420A= (p.Glu807=)
c.2470A= (p.Ser824=)
c.2407A= (p.Ser803=)
11g.47337505dupCA676994918MYBPC3c.2488dup (p.Ser830LysfsTer3)
c.2420dup (p.Ser808ValfsTer7)
c.2470dup (p.Ser824LysfsTer3)
c.2407dup (p.Ser803LysfsTer3)
 dbSNP
11g.47337506C>ACA012359MYBPC3c.2487G>T (p.Leu829=)
c.2419G>T (p.Glu807Ter)
c.2469G>T (p.Leu823=)
c.2406G>T (p.Leu802=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337506C=CA1969340156MYBPC3c.2487G= (p.Leu829=)
c.2419G= (p.Glu807=)
c.2469G= (p.Leu823=)
c.2406G= (p.Leu802=)
11g.47337506C>GCA474429330MYBPC3c.2487G>C (p.Leu829=)
c.2419G>C (p.Glu807Gln)
c.2469G>C (p.Leu823=)
c.2406G>C (p.Leu802=)
 gnomAD v4
11g.47337506C>TCA474429331MYBPC3c.2487G>A (p.Leu829=)
c.2419G>A (p.Glu807Lys)
c.2469G>A (p.Leu823=)
c.2406G>A (p.Leu802=)
11g.47337507A=CA1969340159MYBPC3c.2486T= (p.Leu829=)
c.2418T= (p.Ala806=)
c.2468T= (p.Leu823=)
c.2405T= (p.Leu802=)
11g.47337507A>CCA380318261MYBPC3c.2486T>G (p.Leu829Arg)
c.2418T>G (p.Ala806=)
c.2468T>G (p.Leu823Arg)
c.2405T>G (p.Leu802Arg)
 dbSNP
11g.47337507A>GCA380318262MYBPC3c.2486T>C (p.Leu829Pro)
c.2418T>C (p.Ala806=)
c.2468T>C (p.Leu823Pro)
c.2405T>C (p.Leu802Pro)
 ClinVar dbSNP
11g.47337507A>TCA380318263MYBPC3c.2486T>A (p.Leu829Gln)
c.2418T>A (p.Ala806=)
c.2468T>A (p.Leu823Gln)
c.2405T>A (p.Leu802Gln)
11g.47337508G>ACA474429332MYBPC3c.2485C>T (p.Leu829=)
c.2417C>T (p.Ala806Val)
c.2467C>T (p.Leu823=)
c.2404C>T (p.Leu802=)
11g.47337508G>CCA380318264MYBPC3c.2485C>G (p.Leu829Val)
c.2417C>G (p.Ala806Gly)
c.2467C>G (p.Leu823Val)
c.2404C>G (p.Leu802Val)
11g.47337508G>TCA380318265MYBPC3c.2485C>A (p.Leu829Met)
c.2417C>A (p.Ala806Asp)
c.2467C>A (p.Leu823Met)
c.2404C>A (p.Leu802Met)
11g.47337509C>ACA049996MYBPC3c.2484G>T (p.Glu828Asp)
c.2416G>T (p.Ala806Ser)
c.2466G>T (p.Glu822Asp)
c.2403G>T (p.Glu801Asp)
11g.47337509C=CA1969340162MYBPC3c.2484G= (p.Glu828=)
c.2416G= (p.Ala806=)
c.2466G= (p.Glu822=)
c.2403G= (p.Glu801=)
11g.47337509C>GCA380318266MYBPC3c.2484G>C (p.Glu828Asp)
c.2416G>C (p.Ala806Pro)
c.2466G>C (p.Glu822Asp)
c.2403G>C (p.Glu801Asp)
11g.47337509C>TCA078747MYBPC3c.2484G>A (p.Glu828=)
c.2416G>A (p.Ala806Thr)
c.2466G>A (p.Glu822=)
c.2403G>A (p.Glu801=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337510T>ACA380318267MYBPC3c.2483A>T (p.Glu828Val)
c.2415A>T (p.Gly805=)
c.2465A>T (p.Glu822Val)
c.2402A>T (p.Glu801Val)
11g.47337510T>CCA380318268MYBPC3c.2483A>G (p.Glu828Gly)
c.2415A>G (p.Gly805=)
c.2465A>G (p.Glu822Gly)
c.2402A>G (p.Glu801Gly)
 ClinVar
11g.47337510T>GCA380318269MYBPC3c.2483A>C (p.Glu828Ala)
c.2415A>C (p.Gly805=)
c.2465A>C (p.Glu822Ala)
c.2402A>C (p.Glu801Ala)
11g.47337511C>ACA380318271MYBPC3c.2482G>T (p.Glu828Ter)
c.2414G>T (p.Gly805Val)
c.2464G>T (p.Glu822Ter)
c.2401G>T (p.Glu801Ter)
11g.47337511C=CA1969340167MYBPC3c.2482G= (p.Glu828=)
c.2414G= (p.Gly805=)
c.2464G= (p.Glu822=)
c.2401G= (p.Glu801=)
11g.47337511C>GCA078745MYBPC3c.2482G>C (p.Glu828Gln)
c.2414G>C (p.Gly805Ala)
c.2464G>C (p.Glu822Gln)
c.2401G>C (p.Glu801Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47337511C>TCA380318270MYBPC3c.2482G>A (p.Glu828Lys)
c.2414G>A (p.Gly805Glu)
c.2464G>A (p.Glu822Lys)
c.2401G>A (p.Glu801Lys)
 dbSNP gnomAD v3 gnomAD v4
11g.47337512delCA2573332629MYBPC3c.2482del (p.Glu828SerfsTer2)
c.2414del
c.2464del (p.Glu822SerfsTer2)
c.2401del (p.Glu801SerfsTer2)
11g.47337512C>ACA380318272MYBPC3c.2481G>T (p.Gln827His)
c.2414-1G>T (n.2414-1G>T)
c.2463G>T (p.Gln821His)
c.2400G>T (p.Gln800His)
11g.47337512C>GCA380318273MYBPC3c.2481G>C (p.Gln827His)
c.2414-1G>C (n.2414-1G>C)
c.2463G>C (p.Gln821His)
c.2400G>C (p.Gln800His)
11g.47337512C>TCA049989MYBPC3c.2481G>A (p.Gln827=)
c.2414-1G>A (n.2414-1G>A)
c.2463G>A (p.Gln821=)
c.2400G>A (p.Gln800=)
11g.47337513T>ACA380318274MYBPC3c.2480A>T (p.Gln827Leu)
c.2414-2A>T (n.2414-2A>T)
c.2462A>T (p.Gln821Leu)
c.2399A>T (p.Gln800Leu)
11g.47337513T>CCA380318275MYBPC3c.2480A>G (p.Gln827Arg)
c.2414-2A>G (n.2414-2A>G)
c.2462A>G (p.Gln821Arg)
c.2399A>G (p.Gln800Arg)
11g.47337513T>GCA380318276MYBPC3c.2480A>C (p.Gln827Pro)
c.2414-2A>C (n.2414-2A>C)
c.2462A>C (p.Gln821Pro)
c.2399A>C (p.Gln800Pro)
11g.47337514G>ACA380318277MYBPC3c.2479C>T (p.Gln827Ter)
c.2414-3C>T (n.2414-3C>T)
c.2461C>T (p.Gln821Ter)
c.2398C>T (p.Gln800Ter)
 dbSNP
11g.47337514G>CCA380318278MYBPC3c.2479C>G (p.Gln827Glu)
c.2414-3C>G (n.2414-3C>G)
c.2461C>G (p.Gln821Glu)
c.2398C>G (p.Gln800Glu)
11g.47337514G=CA1969340177MYBPC3c.2479C= (p.Gln827=)
c.2414-3C= (n.2414-3C=)
c.2461C= (p.Gln821=)
c.2398C= (p.Gln800=)
11g.47337514G>TCA012352MYBPC3c.2479C>A (p.Gln827Lys)
c.2414-3C>A (n.2414-3C>A)
c.2461C>A (p.Gln821Lys)
c.2398C>A (p.Gln800Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47337515A>CCA380318279MYBPC3c.2478T>G (p.Ile826Met)
c.2414-4T>G (n.2414-4T>G)
c.2460T>G (p.Ile820Met)
c.2397T>G (p.Ile799Met)
11g.47337515A>GCA474429334MYBPC3c.2478T>C (p.Ile826=)
c.2414-4T>C (n.2414-4T>C)
c.2460T>C (p.Ile820=)
c.2397T>C (p.Ile799=)
11g.47337515A>TCA474429333MYBPC3c.2478T>A (p.Ile826=)
c.2414-4T>A (n.2414-4T>A)
c.2460T>A (p.Ile820=)
c.2397T>A (p.Ile799=)
11g.47337516dupCA2840399603MYBPC3c.2478dup (p.Gln827SerfsTer6)
c.2414-4dup (n.2414-4dup)
c.2460dup (p.Gln821SerfsTer6)
c.2397dup (p.Gln800SerfsTer6)
11g.47337516A>CCA380318280MYBPC3c.2477T>G (p.Ile826Ser)
c.2414-5T>G (n.2414-5T>G)
c.2459T>G (p.Ile820Ser)
c.2396T>G (p.Ile799Ser)
11g.47337516A>GCA380318281MYBPC3c.2477T>C (p.Ile826Thr)
c.2414-5T>C (n.2414-5T>C)
c.2459T>C (p.Ile820Thr)
c.2396T>C (p.Ile799Thr)
11g.47337516A>TCA380318282MYBPC3c.2477T>A (p.Ile826Asn)
c.2414-5T>A (n.2414-5T>A)
c.2459T>A (p.Ile820Asn)
c.2396T>A (p.Ile799Asn)
11g.47337516_47337517delinsATCA1969340178MYBPC3c.2476_2477delinsAT (p.Ile826=)
c.2414-6_2414-5delinsAT (n.2414-6_2414-5delinsAT)
c.2458_2459delinsAT (p.Ile820=)
c.2395_2396delinsAT (p.Ile799=)
11g.47337517delCA1139659406MYBPC3c.2476del (p.Ile826PhefsTer4)
c.2414-6del (n.2414-6del)
c.2458del (p.Ile820PhefsTer4)
c.2395del (p.Ile799PhefsTer4)
 ClinVar dbSNP
11g.47337517T>ACA380318287MYBPC3c.2476A>T (p.Ile826Phe)
c.2414-6A>T (n.2414-6A>T)
c.2458A>T (p.Ile820Phe)
c.2395A>T (p.Ile799Phe)
11g.47337517T>CCA380318284MYBPC3c.2476A>G (p.Ile826Val)
c.2414-6A>G (n.2414-6A>G)
c.2458A>G (p.Ile820Val)
c.2395A>G (p.Ile799Val)
 gnomAD v4
11g.47337517T>GCA380318285MYBPC3c.2476A>C (p.Ile826Leu)
c.2414-6A>C (n.2414-6A>C)
c.2458A>C (p.Ile820Leu)
c.2395A>C (p.Ile799Leu)
11g.47337518C>ACA474429335MYBPC3c.2475G>T (p.Leu825=)
c.2414-7G>T (n.2414-7G>T)
c.2457G>T (p.Leu819=)
c.2394G>T (p.Leu798=)
11g.47337518C>GCA474429337MYBPC3c.2475G>C (p.Leu825=)
c.2414-7G>C (n.2414-7G>C)
c.2457G>C (p.Leu819=)
c.2394G>C (p.Leu798=)
11g.47337518C>TCA474429336MYBPC3c.2475G>A (p.Leu825=)
c.2414-7G>A (n.2414-7G>A)
c.2457G>A (p.Leu819=)
c.2394G>A (p.Leu798=)
 gnomAD v4
11g.47337520_47337537dupCA2613401532MYBPC3c.2458_2475dup (p.Leu825_Ile826insArgLeuAsnPheAspLeu)
c.2414-24_2414-7dup (n.2414-24_2414-7dup)
c.2440_2457dup (p.Leu819_Ile820insArgLeuAsnPheAspLeu)
c.2377_2394dup (p.Leu798_Ile799insArgLeuAsnPheAspLeu)
 gnomAD v4
11g.47337519A=CA1969340190MYBPC3c.2474T= (p.Leu825=)
c.2414-8T= (n.2414-8T=)
c.2456T= (p.Leu819=)
c.2393T= (p.Leu798=)
11g.47337519A>CCA380318289MYBPC3c.2474T>G (p.Leu825Arg)
c.2414-8T>G (n.2414-8T>G)
c.2456T>G (p.Leu819Arg)
c.2393T>G (p.Leu798Arg)
11g.47337519A>GCA380318290MYBPC3c.2474T>C (p.Leu825Pro)
c.2414-8T>C (n.2414-8T>C)
c.2456T>C (p.Leu819Pro)
c.2393T>C (p.Leu798Pro)
 dbSNP gnomAD v2 gnomAD v4
11g.47337519A>TCA380318291MYBPC3c.2474T>A (p.Leu825Gln)
c.2414-8T>A (n.2414-8T>A)
c.2456T>A (p.Leu819Gln)
c.2393T>A (p.Leu798Gln)
11g.47337520G>ACA474429338MYBPC3c.2473C>T (p.Leu825=)
c.2414-9C>T (n.2414-9C>T)
c.2455C>T (p.Leu819=)
c.2392C>T (p.Leu798=)
 ClinVar dbSNP
11g.47337520G>CCA380318292MYBPC3c.2473C>G (p.Leu825Val)
c.2414-9C>G (n.2414-9C>G)
c.2455C>G (p.Leu819Val)
c.2392C>G (p.Leu798Val)
11g.47337520G=CA1969340193MYBPC3c.2473C= (p.Leu825=)
c.2414-9C= (n.2414-9C=)
c.2455C= (p.Leu819=)
c.2392C= (p.Leu798=)
11g.47337520G>TCA380318294MYBPC3c.2473C>A (p.Leu825Met)
c.2414-9C>A (n.2414-9C>A)
c.2455C>A (p.Leu819Met)
c.2392C>A (p.Leu798Met)
11g.47337521G>ACA474429339MYBPC3c.2472C>T (p.Asp824=)
c.2414-10C>T (n.2414-10C>T)
c.2454C>T (p.Asp818=)
c.2391C>T (p.Asp797=)
 ClinVar gnomAD v4
11g.47337521G>CCA380318297MYBPC3c.2472C>G (p.Asp824Glu)
c.2414-10C>G (n.2414-10C>G)
c.2454C>G (p.Asp818Glu)
c.2391C>G (p.Asp797Glu)
11g.47337521G>TCA380318299MYBPC3c.2472C>A (p.Asp824Glu)
c.2414-10C>A (n.2414-10C>A)
c.2454C>A (p.Asp818Glu)
c.2391C>A (p.Asp797Glu)
11g.47337521_47337523delinsTTACA2573332413MYBPC3c.2470_2472delinsTAA (p.Asp824Ter)
c.2414-12_2414-10delinsTAA (n.2414-12_2414-10delinsTAA)
c.2452_2454delinsTAA (p.Asp818Ter)
c.2389_2391delinsTAA (p.Asp797Ter)
11g.47337522T>ACA380318301MYBPC3c.2471A>T (p.Asp824Val)
c.2414-11A>T (n.2414-11A>T)
c.2453A>T (p.Asp818Val)
c.2390A>T (p.Asp797Val)
 COSMIC COSMIC
11g.47337522T>CCA380318303MYBPC3c.2471A>G (p.Asp824Gly)
c.2414-11A>G (n.2414-11A>G)
c.2453A>G (p.Asp818Gly)
c.2390A>G (p.Asp797Gly)
11g.47337522T>GCA380318305MYBPC3c.2471A>C (p.Asp824Ala)
c.2414-11A>C (n.2414-11A>C)
c.2453A>C (p.Asp818Ala)
c.2390A>C (p.Asp797Ala)
11g.47337523C>ACA380318307MYBPC3c.2470G>T (p.Asp824Tyr)
c.2414-12G>T (n.2414-12G>T)
c.2452G>T (p.Asp818Tyr)
c.2389G>T (p.Asp797Tyr)
 gnomAD v4
11g.47337523C=CA1969340200MYBPC3c.2470G= (p.Asp824=)
c.2414-12G= (n.2414-12G=)
c.2452G= (p.Asp818=)
c.2389G= (p.Asp797=)
11g.47337523C>GCA380318309MYBPC3c.2470G>C (p.Asp824His)
c.2414-12G>C (n.2414-12G>C)
c.2452G>C (p.Asp818His)
c.2389G>C (p.Asp797His)
11g.47337523C>TCA078743MYBPC3c.2470G>A (p.Asp824Asn)
c.2414-12G>A (n.2414-12G>A)
c.2452G>A (p.Asp818Asn)
c.2389G>A (p.Asp797Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337524delCA2697548560MYBPC3c.2469del (p.Phe823LeufsTer3)
c.2414-13del (n.2414-13del)
c.2451del (p.Phe817LeufsTer3)
c.2388del (p.Phe796LeufsTer3)
 ClinVar
11g.47337524G>ACA474429340MYBPC3c.2469C>T (p.Phe823=)
c.2414-13C>T (n.2414-13C>T)
c.2451C>T (p.Phe817=)
c.2388C>T (p.Phe796=)
 ClinVar dbSNP gnomAD v4
11g.47337524G>CCA380318312MYBPC3c.2469C>G (p.Phe823Leu)
c.2414-13C>G (n.2414-13C>G)
c.2451C>G (p.Phe817Leu)
c.2388C>G (p.Phe796Leu)
11g.47337524G=CA1969340205MYBPC3c.2469C= (p.Phe823=)
c.2414-13C= (n.2414-13C=)
c.2451C= (p.Phe817=)
c.2388C= (p.Phe796=)
11g.47337524G>TCA380318314MYBPC3c.2469C>A (p.Phe823Leu)
c.2414-13C>A (n.2414-13C>A)
c.2451C>A (p.Phe817Leu)
c.2388C>A (p.Phe796Leu)
11g.47337525A>CCA380318317MYBPC3c.2468T>G (p.Phe823Cys)
c.2414-14T>G (n.2414-14T>G)
c.2450T>G (p.Phe817Cys)
c.2387T>G (p.Phe796Cys)
11g.47337525A>GCA380318318MYBPC3c.2468T>C (p.Phe823Ser)
c.2414-14T>C (n.2414-14T>C)
c.2450T>C (p.Phe817Ser)
c.2387T>C (p.Phe796Ser)
 gnomAD v4
11g.47337525A>TCA380318320MYBPC3c.2468T>A (p.Phe823Tyr)
c.2414-14T>A (n.2414-14T>A)
c.2450T>A (p.Phe817Tyr)
c.2387T>A (p.Phe796Tyr)
11g.47337526A>CCA380318323MYBPC3c.2467T>G (p.Phe823Val)
c.2414-15T>G (n.2414-15T>G)
c.2449T>G (p.Phe817Val)
c.2386T>G (p.Phe796Val)
11g.47337526A>GCA380318324MYBPC3c.2467T>C (p.Phe823Leu)
c.2414-15T>C (n.2414-15T>C)
c.2449T>C (p.Phe817Leu)
c.2386T>C (p.Phe796Leu)
 COSMIC COSMIC
11g.47337526A>TCA380318326MYBPC3c.2467T>A (p.Phe823Ile)
c.2414-15T>A (n.2414-15T>A)
c.2449T>A (p.Phe817Ile)
c.2386T>A (p.Phe796Ile)
11g.47337527G>ACA474429341MYBPC3c.2466C>T (p.Asn822=)
c.2414-16C>T (n.2414-16C>T)
c.2448C>T (p.Asn816=)
c.2385C>T (p.Asn795=)
 ClinVar dbSNP
11g.47337527G>CCA380318329MYBPC3c.2466C>G (p.Asn822Lys)
c.2414-16C>G (n.2414-16C>G)
c.2448C>G (p.Asn816Lys)
c.2385C>G (p.Asn795Lys)
11g.47337527G=CA1969340208MYBPC3c.2466C= (p.Asn822=)
c.2414-16C= (n.2414-16C=)
c.2448C= (p.Asn816=)
c.2385C= (p.Asn795=)
11g.47337527G>TCA380318327MYBPC3c.2466C>A (p.Asn822Lys)
c.2414-16C>A (n.2414-16C>A)
c.2448C>A (p.Asn816Lys)
c.2385C>A (p.Asn795Lys)
11g.47337528T>ACA380318330MYBPC3c.2465A>T (p.Asn822Ile)
c.2414-17A>T (n.2414-17A>T)
c.2447A>T (p.Asn816Ile)
c.2384A>T (p.Asn795Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47337528T>CCA380318332MYBPC3c.2465A>G (p.Asn822Ser)
c.2414-17A>G (n.2414-17A>G)
c.2447A>G (p.Asn816Ser)
c.2384A>G (p.Asn795Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.47337528T>GCA380318334MYBPC3c.2465A>C (p.Asn822Thr)
c.2414-17A>C (n.2414-17A>C)
c.2447A>C (p.Asn816Thr)
c.2384A>C (p.Asn795Thr)
11g.47337528T=CA1969340215MYBPC3c.2465A= (p.Asn822=)
c.2414-17A= (n.2414-17A=)
c.2447A= (p.Asn816=)
c.2384A= (p.Asn795=)
11g.47337529T>ACA380318336MYBPC3c.2464A>T (p.Asn822Tyr)
c.2414-18A>T (n.2414-18A>T)
c.2446A>T (p.Asn816Tyr)
c.2383A>T (p.Asn795Tyr)
11g.47337529T>CCA380318338MYBPC3c.2464A>G (p.Asn822Asp)
c.2414-18A>G (n.2414-18A>G)
c.2446A>G (p.Asn816Asp)
c.2383A>G (p.Asn795Asp)
11g.47337529T>GCA380318340MYBPC3c.2464A>C (p.Asn822His)
c.2414-18A>C (n.2414-18A>C)
c.2446A>C (p.Asn816His)
c.2383A>C (p.Asn795His)
11g.47337530C>ACA474429342MYBPC3c.2463G>T (p.Leu821=)
c.2414-19G>T (n.2414-19G>T)
c.2445G>T (p.Leu815=)
c.2382G>T (p.Leu794=)
11g.47337530C=CA1969340219MYBPC3c.2463G= (p.Leu821=)
c.2414-19G= (n.2414-19G=)
c.2445G= (p.Leu815=)
c.2382G= (p.Leu794=)
11g.47337530C>GCA474429343MYBPC3c.2463G>C (p.Leu821=)
c.2414-19G>C (n.2414-19G>C)
c.2445G>C (p.Leu815=)
c.2382G>C (p.Leu794=)
 ClinVar dbSNP
11g.47337530C>TCA474429344MYBPC3c.2463G>A (p.Leu821=)
c.2414-19G>A (n.2414-19G>A)
c.2445G>A (p.Leu815=)
c.2382G>A (p.Leu794=)
 gnomAD v4
11g.47337531A>CCA380318346MYBPC3c.2462T>G (p.Leu821Arg)
c.2414-20T>G (n.2414-20T>G)
c.2444T>G (p.Leu815Arg)
c.2381T>G (p.Leu794Arg)
11g.47337531A>GCA380318342MYBPC3c.2462T>C (p.Leu821Pro)
c.2414-20T>C (n.2414-20T>C)
c.2444T>C (p.Leu815Pro)
c.2381T>C (p.Leu794Pro)
11g.47337531A>TCA380318344MYBPC3c.2462T>A (p.Leu821Gln)
c.2414-20T>A (n.2414-20T>A)
c.2444T>A (p.Leu815Gln)
c.2381T>A (p.Leu794Gln)
11g.47337532G>ACA474429345MYBPC3c.2461C>T (p.Leu821=)
c.2414-21C>T (n.2414-21C>T)
c.2443C>T (p.Leu815=)
c.2380C>T (p.Leu794=)
11g.47337532G>CCA380318348MYBPC3c.2461C>G (p.Leu821Val)
c.2414-21C>G (n.2414-21C>G)
c.2443C>G (p.Leu815Val)
c.2380C>G (p.Leu794Val)
11g.47337532G>TCA380318350MYBPC3c.2461C>A (p.Leu821Met)
c.2414-21C>A (n.2414-21C>A)
c.2443C>A (p.Leu815Met)
c.2380C>A (p.Leu794Met)
11g.47337533C>ACA474429346MYBPC3c.2460G>T (p.Arg820=)
c.2414-22G>T (n.2414-22G>T)
c.2442G>T (p.Arg814=)
c.2379G>T (p.Arg793=)
11g.47337533C=CA1969340224MYBPC3c.2460G= (p.Arg820=)
c.2414-22G= (n.2414-22G=)
c.2442G= (p.Arg814=)
c.2379G= (p.Arg793=)
11g.47337533C>GCA474429347MYBPC3c.2460G>C (p.Arg820=)
c.2414-22G>C (n.2414-22G>C)
c.2442G>C (p.Arg814=)
c.2379G>C (p.Arg793=)
11g.47337533C>TCA012341MYBPC3c.2460G>A (p.Arg820=)
c.2414-22G>A (n.2414-22G>A)
c.2442G>A (p.Arg814=)
c.2379G>A (p.Arg793=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337534delCA2697548561MYBPC3c.2460del (p.Leu821Ter)
c.2414-22del (n.2414-22del)
c.2442del (p.Leu815Ter)
c.2379del (p.Leu794Ter)
 ClinVar
11g.47337533_47337538delinsCCGCATCA1969340227MYBPC3c.2455_2460delinsATGCGG (p.Met819=)
c.2414-27_2414-22delinsATGCGG (n.2414-27_2414-22delinsATGCGG)
c.2437_2442delinsATGCGG (p.Met813=)
c.2374_2379delinsATGCGG (p.Met792=)
11g.47337534C>ACA380318354MYBPC3c.2459G>T (p.Arg820Leu)
c.2414-23G>T (n.2414-23G>T)
c.2441G>T (p.Arg814Leu)
c.2378G>T (p.Arg793Leu)
11g.47337534C=CA1969340234MYBPC3c.2459G= (p.Arg820=)
c.2414-23G= (n.2414-23G=)
c.2441G= (p.Arg814=)
c.2378G= (p.Arg793=)
11g.47337534C>GCA012335MYBPC3c.2459G>C (p.Arg820Pro)
c.2414-23G>C (n.2414-23G>C)
c.2441G>C (p.Arg814Pro)
c.2378G>C (p.Arg793Pro)
 ClinVar dbSNP gnomAD v4
11g.47337534C>TCA012326MYBPC3c.2459G>A (p.Arg820Gln)
c.2414-23G>A (n.2414-23G>A)
c.2441G>A (p.Arg814Gln)
c.2378G>A (p.Arg793Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337535_47337539delCA012310MYBPC3c.2455_2459del (p.Met819AlafsTer12)
c.2414-27_2414-23del (n.2414-27_2414-23del)
c.2437_2441del (p.Met813AlafsTer12)
c.2374_2378del (p.Met792AlafsTer12)
 ClinVar dbSNP
11g.47337535G>ACA012317MYBPC3c.2458C>T (p.Arg820Trp)
c.2414-24C>T (n.2414-24C>T)
c.2440C>T (p.Arg814Trp)
c.2377C>T (p.Arg793Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47337535G>CCA380318359MYBPC3c.2458C>G (p.Arg820Gly)
c.2414-24C>G (n.2414-24C>G)
c.2440C>G (p.Arg814Gly)
c.2377C>G (p.Arg793Gly)
11g.47337535G=CA1969340243MYBPC3c.2458C= (p.Arg820=)
c.2414-24C= (n.2414-24C=)
c.2440C= (p.Arg814=)
c.2377C= (p.Arg793=)
11g.47337535G>TCA474429348MYBPC3c.2458C>A (p.Arg820=)
c.2414-24C>A (n.2414-24C>A)
c.2440C>A (p.Arg814=)
c.2377C>A (p.Arg793=)
 ClinVar dbSNP gnomAD v4
11g.47337536C>ACA380318361MYBPC3c.2457G>T (p.Met819Ile)
c.2414-25G>T (n.2414-25G>T)
c.2439G>T (p.Met813Ile)
c.2376G>T (p.Met792Ile)
11g.47337536C>GCA380318363MYBPC3c.2457G>C (p.Met819Ile)
c.2414-25G>C (n.2414-25G>C)
c.2439G>C (p.Met813Ile)
c.2376G>C (p.Met792Ile)
11g.47337536C>TCA049947MYBPC3c.2457G>A (p.Met819Ile)
c.2414-25G>A (n.2414-25G>A)
c.2439G>A (p.Met813Ile)
c.2376G>A (p.Met792Ile)
 gnomAD v4
11g.47337537A=CA1969340247MYBPC3c.2456T= (p.Met819=)
c.2414-26T= (n.2414-26T=)
c.2438T= (p.Met813=)
c.2375T= (p.Met792=)
11g.47337537A>CCA380318367MYBPC3c.2456T>G (p.Met819Arg)
c.2414-26T>G (n.2414-26T>G)
c.2438T>G (p.Met813Arg)
c.2375T>G (p.Met792Arg)
11g.47337537A>GCA10576887MYBPC3c.2456T>C (p.Met819Thr)
c.2414-26T>C (n.2414-26T>C)
c.2438T>C (p.Met813Thr)
c.2375T>C (p.Met792Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47337537A>TCA380318368MYBPC3c.2456T>A (p.Met819Lys)
c.2414-26T>A (n.2414-26T>A)
c.2438T>A (p.Met813Lys)
c.2375T>A (p.Met792Lys)
11g.47337538T>ACA380318372MYBPC3c.2455A>T (p.Met819Leu)
c.2414-27A>T (n.2414-27A>T)
c.2437A>T (p.Met813Leu)
c.2374A>T (p.Met792Leu)
 dbSNP gnomAD v3 gnomAD v4
11g.47337538T>CCA380318373MYBPC3c.2455A>G (p.Met819Val)
c.2414-27A>G (n.2414-27A>G)
c.2437A>G (p.Met813Val)
c.2374A>G (p.Met792Val)
 ClinVar
11g.47337538T>GCA380318375MYBPC3c.2455A>C (p.Met819Leu)
c.2414-27A>C (n.2414-27A>C)
c.2437A>C (p.Met813Leu)
c.2374A>C (p.Met792Leu)
 ClinVar
11g.47337538T=CA1969340253MYBPC3c.2455A= (p.Met819=)
c.2414-27A= (n.2414-27A=)
c.2437A= (p.Met813=)
c.2374A= (p.Met792=)
11g.47337539C>ACA380318377MYBPC3c.2454G>T (p.Trp818Cys)
c.2414-28G>T (n.2414-28G>T)
c.2436G>T (p.Trp812Cys)
c.2373G>T (p.Trp791Cys)
 dbSNP
11g.47337539C=CA1969340257MYBPC3c.2454G= (p.Trp818=)
c.2414-28G= (n.2414-28G=)
c.2436G= (p.Trp812=)
c.2373G= (p.Trp791=)
11g.47337539C>GCA380318379MYBPC3c.2454G>C (p.Trp818Cys)
c.2414-28G>C (n.2414-28G>C)
c.2436G>C (p.Trp812Cys)
c.2373G>C (p.Trp791Cys)
 gnomAD v4
11g.47337539C>TCA012302MYBPC3c.2454G>A (p.Trp818Ter)
c.2414-28G>A (n.2414-28G>A)
c.2436G>A (p.Trp812Ter)
c.2373G>A (p.Trp791Ter)
 ClinVar dbSNP
11g.47337540C>ACA380318382MYBPC3c.2453G>T (p.Trp818Leu)
c.2414-29G>T (n.2414-29G>T)
c.2435G>T (p.Trp812Leu)
c.2372G>T (p.Trp791Leu)
11g.47337540C=CA1969340265MYBPC3c.2453G= (p.Trp818=)
c.2414-29G= (n.2414-29G=)
c.2435G= (p.Trp812=)
c.2372G= (p.Trp791=)
11g.47337540C>GCA380318384MYBPC3c.2453G>C (p.Trp818Ser)
c.2414-29G>C (n.2414-29G>C)
c.2435G>C (p.Trp812Ser)
c.2372G>C (p.Trp791Ser)
11g.47337540C>TCA380318386MYBPC3c.2453G>A (p.Trp818Ter)
c.2414-29G>A (n.2414-29G>A)
c.2435G>A (p.Trp812Ter)
c.2372G>A (p.Trp791Ter)
 ClinVar dbSNP
11g.47337541A>CCA380318388MYBPC3c.2452T>G (p.Trp818Gly)
c.2414-30T>G (n.2414-30T>G)
c.2434T>G (p.Trp812Gly)
c.2371T>G (p.Trp791Gly)
11g.47337541A>GCA380318390MYBPC3c.2452T>C (p.Trp818Arg)
c.2414-30T>C (n.2414-30T>C)
c.2434T>C (p.Trp812Arg)
c.2371T>C (p.Trp791Arg)
11g.47337541A>TCA380318392MYBPC3c.2452T>A (p.Trp818Arg)
c.2414-30T>A (n.2414-30T>A)
c.2434T>A (p.Trp812Arg)
c.2371T>A (p.Trp791Arg)
11g.47337541_47337542delinsACCA1969340269MYBPC3c.2451_2452delinsGT (p.Arg817=)
c.2414-31_2414-30delinsGT (n.2414-31_2414-30delinsGT)
c.2433_2434delinsGT (p.Arg811=)
c.2370_2371delinsGT (p.Arg790=)
11g.47337542C>ACA474429349MYBPC3c.2451G>T (p.Arg817=)
c.2414-31G>T (n.2414-31G>T)
c.2433G>T (p.Arg811=)
c.2370G>T (p.Arg790=)
11g.47337542C>GCA474429350MYBPC3c.2451G>C (p.Arg817=)
c.2414-31G>C (n.2414-31G>C)
c.2433G>C (p.Arg811=)
c.2370G>C (p.Arg790=)
 ClinVar
11g.47337542C>TCA474429351MYBPC3c.2451G>A (p.Arg817=)
c.2414-31G>A (n.2414-31G>A)
c.2433G>A (p.Arg811=)
c.2370G>A (p.Arg790=)
11g.47337543delCA658797624MYBPC3c.2451del (p.Trp818GlyfsTer4)
c.2414-31del (n.2414-31del)
c.2433del (p.Trp812GlyfsTer4)
c.2370del (p.Trp791GlyfsTer4)
 ClinVar dbSNP
11g.47337543C>ACA380318396MYBPC3c.2450G>T (p.Arg817Leu)
c.2414-32G>T (n.2414-32G>T)
c.2432G>T (p.Arg811Leu)
c.2369G>T (p.Arg790Leu)
 ClinVar dbSNP gnomAD v4
11g.47337543C=CA1969340277MYBPC3c.2450G= (p.Arg817=)
c.2414-32G= (n.2414-32G=)
c.2432G= (p.Arg811=)
c.2369G= (p.Arg790=)
11g.47337543C>GCA078737MYBPC3c.2450G>C (p.Arg817Pro)
c.2414-32G>C (n.2414-32G>C)
c.2432G>C (p.Arg811Pro)
c.2369G>C (p.Arg790Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337543C>TCA012295MYBPC3c.2450G>A (p.Arg817Gln)
c.2414-32G>A (n.2414-32G>A)
c.2432G>A (p.Arg811Gln)
c.2369G>A (p.Arg790Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.47337544G>ACA012285MYBPC3c.2449C>T (p.Arg817Trp)
c.2414-33C>T (n.2414-33C>T)
c.2431C>T (p.Arg811Trp)
c.2368C>T (p.Arg790Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47337544G>CCA380318398MYBPC3c.2449C>G (p.Arg817Gly)
c.2414-33C>G (n.2414-33C>G)
c.2431C>G (p.Arg811Gly)
c.2368C>G (p.Arg790Gly)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
11g.47337544G=CA1969340292MYBPC3c.2449C= (p.Arg817=)
c.2414-33C= (n.2414-33C=)
c.2431C= (p.Arg811=)
c.2368C= (p.Arg790=)
11g.47337544G>TCA474429352MYBPC3c.2449C>A (p.Arg817=)
c.2414-33C>A (n.2414-33C>A)
c.2431C>A (p.Arg811=)
c.2368C>A (p.Arg790=)
 ClinVar dbSNP gnomAD v4
11g.47337545delCA2580084291MYBPC3c.2449del (p.Arg817GlyfsTer5)
c.2414-33del (n.2414-33del)
c.2431del (p.Arg811GlyfsTer5)
c.2368del (p.Arg790GlyfsTer5)
 ClinVar
11g.47337545G>ACA474429353MYBPC3c.2448C>T (p.Tyr816=)
c.2414-34C>T (n.2414-34C>T)
c.2430C>T (p.Tyr810=)
c.2367C>T (p.Tyr789=)
 dbSNP
11g.47337545G>CCA380318400MYBPC3c.2448C>G (p.Tyr816Ter)
c.2414-34C>G (n.2414-34C>G)
c.2430C>G (p.Tyr810Ter)
c.2367C>G (p.Tyr789Ter)
11g.47337545G=CA1969340300MYBPC3c.2448C= (p.Tyr816=)
c.2414-34C= (n.2414-34C=)
c.2430C= (p.Tyr810=)
c.2367C= (p.Tyr789=)
11g.47337545G>TCA380318402MYBPC3c.2448C>A (p.Tyr816Ter)
c.2414-34C>A (n.2414-34C>A)
c.2430C>A (p.Tyr810Ter)
c.2367C>A (p.Tyr789Ter)
11g.47337546T>ACA380318403MYBPC3c.2447A>T (p.Tyr816Phe)
c.2414-35A>T (n.2414-35A>T)
c.2429A>T (p.Tyr810Phe)
c.2366A>T (p.Tyr789Phe)
11g.47337546T>CCA380318404MYBPC3c.2447A>G (p.Tyr816Cys)
c.2414-35A>G (n.2414-35A>G)
c.2429A>G (p.Tyr810Cys)
c.2366A>G (p.Tyr789Cys)
 ClinVar dbSNP
11g.47337546T>GCA380318406MYBPC3c.2447A>C (p.Tyr816Ser)
c.2414-35A>C (n.2414-35A>C)
c.2429A>C (p.Tyr810Ser)
c.2366A>C (p.Tyr789Ser)
11g.47337546T=CA1969340303MYBPC3c.2447A= (p.Tyr816=)
c.2414-35A= (n.2414-35A=)
c.2429A= (p.Tyr810=)
c.2366A= (p.Tyr789=)
11g.47337547A>CCA380318408MYBPC3c.2446T>G (p.Tyr816Asp)
c.2414-36T>G (n.2414-36T>G)
c.2428T>G (p.Tyr810Asp)
c.2365T>G (p.Tyr789Asp)
11g.47337547A>GCA380318410MYBPC3c.2446T>C (p.Tyr816His)
c.2414-36T>C (n.2414-36T>C)
c.2428T>C (p.Tyr810His)
c.2365T>C (p.Tyr789His)
11g.47337547A>TCA380318412MYBPC3c.2446T>A (p.Tyr816Asn)
c.2414-36T>A (n.2414-36T>A)
c.2428T>A (p.Tyr810Asn)
c.2365T>A (p.Tyr789Asn)
11g.47337547_47337548insTACCCA2825002009MYBPC3c.2445_2446insGGTA (p.Tyr816GlyfsTer18)
c.2414-37_2414-36insGGTA (n.2414-37_2414-36insGGTA)
c.2427_2428insGGTA (p.Tyr810GlyfsTer18)
c.2364_2365insGGTA (p.Tyr789GlyfsTer18)
 ClinVar
11g.47337548G>ACA474429354MYBPC3c.2445C>T (p.Ser815=)
c.2414-37C>T (n.2414-37C>T)
c.2427C>T (p.Ser809=)
c.2364C>T (p.Ser788=)
11g.47337548G>CCA380318414MYBPC3c.2445C>G (p.Ser815Arg)
c.2414-37C>G (n.2414-37C>G)
c.2427C>G (p.Ser809Arg)
c.2364C>G (p.Ser788Arg)
11g.47337548G>TCA380318416MYBPC3c.2445C>A (p.Ser815Arg)
c.2414-37C>A (n.2414-37C>A)
c.2427C>A (p.Ser809Arg)
c.2364C>A (p.Ser788Arg)
11g.47337548_47337558delinsGCTCTTCTTCTCA1969340307MYBPC3c.2435_2445delinsAGAAGAAGAGC (p.Lys812=)
c.2414-47_2414-37delinsAGAAGAAGAGC (n.2414-47_2414-37delinsAGAAGAAGAGC)
c.2417_2427delinsAGAAGAAGAGC (p.Lys806=)
c.2354_2364delinsAGAAGAAGAGC (p.Lys785=)
11g.47337549C>ACA380318421MYBPC3c.2444G>T (p.Ser815Ile)
c.2414-38G>T (n.2414-38G>T)
c.2426G>T (p.Ser809Ile)
c.2363G>T (p.Ser788Ile)
11g.47337549C=CA1969340314MYBPC3c.2444G= (p.Ser815=)
c.2414-38G= (n.2414-38G=)
c.2426G= (p.Ser809=)
c.2363G= (p.Ser788=)
11g.47337549C>GCA380318423MYBPC3c.2444G>C (p.Ser815Thr)
c.2414-38G>C (n.2414-38G>C)
c.2426G>C (p.Ser809Thr)
c.2363G>C (p.Ser788Thr)
11g.47337549C>TCA380318418MYBPC3c.2444G>A (p.Ser815Asn)
c.2414-38G>A (n.2414-38G>A)
c.2426G>A (p.Ser809Asn)
c.2363G>A (p.Ser788Asn)
 gnomAD v4
11g.47337549_47337552delinsCTCTCA1969340311MYBPC3c.2441_2444delinsAGAG (p.Lys814=)
c.2414-41_2414-38delinsAGAG (n.2414-41_2414-38delinsAGAG)
c.2423_2426delinsAGAG (p.Lys808=)
c.2360_2363delinsAGAG (p.Lys787=)
11g.47337549_47337558delCA937668716MYBPC3c.2435_2444del (p.Lys812ThrfsTer7)
c.2414-47_2414-38del (n.2414-47_2414-38del)
c.2417_2426del (p.Lys806ThrfsTer7)
c.2354_2363del (p.Lys785ThrfsTer7)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched