Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47337699del | CA2574816033 | MYBPC3 | c.2406del (p.Ile803SerfsTer19) c.2406del (p.Ile803SerfsTer?) c.2388del (p.Ile797SerfsTer19) c.2325del (p.Ile776SerfsTer19) | |
11 | g.47337698G>A | CA380318602 | MYBPC3 | c.2405C>T (p.Pro802Leu) c.2387C>T (p.Pro796Leu) c.2324C>T (p.Pro775Leu) | |
11 | g.47337698G>C | CA380318606 | MYBPC3 | c.2405C>G (p.Pro802Arg) c.2387C>G (p.Pro796Arg) c.2324C>G (p.Pro775Arg) | |
11 | g.47337698G>T | CA380318604 | MYBPC3 | c.2405C>A (p.Pro802His) c.2387C>A (p.Pro796His) c.2324C>A (p.Pro775His) | |
11 | g.47337698_47337699insCTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCC | CA049813 | MYBPC3 | c.2404_2405insGGGATACTCAGCCGCATTTTACAGATGAGGAAACAGGCTCCAAGCAG (p.Pro802ArgfsTer36) c.2404_2405insGGGATACTCAGCCGCATTTTACAGATGAGGAAACAGGCTCCAAGCAG (p.Pro802ArgfsTer?) c.2386_2387insGGGATACTCAGCCGCATTTTACAGATGAGGAAACAGGCTCCAAGCAG (p.Pro796ArgfsTer36) c.2323_2324insGGGATACTCAGCCGCATTTTACAGATGAGGAAACAGGCTCCAAGCAG (p.Pro775ArgfsTer36) | |
11 | g.47337699G>A | CA380318608 | MYBPC3 | c.2404C>T (p.Pro802Ser) c.2386C>T (p.Pro796Ser) c.2323C>T (p.Pro775Ser) | gnomAD v4 |
11 | g.47337699G>C | CA380318611 | MYBPC3 | c.2404C>G (p.Pro802Ala) c.2386C>G (p.Pro796Ala) c.2323C>G (p.Pro775Ala) | |
11 | g.47337699G= | CA1969331567 | MYBPC3 | c.2404C= (p.Pro802=) c.2386C= (p.Pro796=) c.2323C= (p.Pro775=) | |
11 | g.47337699G>T | CA380318610 | MYBPC3 | c.2404C>A (p.Pro802Thr) c.2386C>A (p.Pro796Thr) c.2323C>A (p.Pro775Thr) | ClinVar dbSNP gnomAD v2 |
11 | g.47337700C>A | CA380318613 | MYBPC3 | c.2403G>T (p.Gln801His) c.2385G>T (p.Gln795His) c.2322G>T (p.Gln774His) | gnomAD v4 |
11 | g.47337700C= | CA1969331568 | MYBPC3 | c.2403G= (p.Gln801=) c.2385G= (p.Gln795=) c.2322G= (p.Gln774=) | |
11 | g.47337700C>G | CA380318614 | MYBPC3 | c.2403G>C (p.Gln801His) c.2385G>C (p.Gln795His) c.2322G>C (p.Gln774His) | dbSNP |
11 | g.47337700C>T | CA474429380 | MYBPC3 | c.2403G>A (p.Gln801=) c.2385G>A (p.Gln795=) c.2322G>A (p.Gln774=) | gnomAD v4 |
11 | g.47337701T>A | CA380318616 | MYBPC3 | c.2402A>T (p.Gln801Leu) c.2384A>T (p.Gln795Leu) c.2321A>T (p.Gln774Leu) | |
11 | g.47337701T>C | CA380318619 | MYBPC3 | c.2402A>G (p.Gln801Arg) c.2384A>G (p.Gln795Arg) c.2321A>G (p.Gln774Arg) | dbSNP gnomAD v2 |
11 | g.47337701T>G | CA380318617 | MYBPC3 | c.2402A>C (p.Gln801Pro) c.2384A>C (p.Gln795Pro) c.2321A>C (p.Gln774Pro) | |
11 | g.47337701T= | CA1969331569 | MYBPC3 | c.2402A= (p.Gln801=) c.2384A= (p.Gln795=) c.2321A= (p.Gln774=) | |
11 | g.47337702G>A | CA380318621 | MYBPC3 | c.2401C>T (p.Gln801Ter) c.2383C>T (p.Gln795Ter) c.2320C>T (p.Gln774Ter) | |
11 | g.47337702G>C | CA380318625 | MYBPC3 | c.2401C>G (p.Gln801Glu) c.2383C>G (p.Gln795Glu) c.2320C>G (p.Gln774Glu) | gnomAD v4 |
11 | g.47337702G>T | CA380318623 | MYBPC3 | c.2401C>A (p.Gln801Lys) c.2383C>A (p.Gln795Lys) c.2320C>A (p.Gln774Lys) | |
11 | g.47337703C>A | CA474429381 | MYBPC3 | c.2400G>T (p.Gly800=) c.2382G>T (p.Gly794=) c.2319G>T (p.Gly773=) | |
11 | g.47337703C>G | CA474429382 | MYBPC3 | c.2400G>C (p.Gly800=) c.2382G>C (p.Gly794=) c.2319G>C (p.Gly773=) | gnomAD v4 |
11 | g.47337703C>T | CA474429383 | MYBPC3 | c.2400G>A (p.Gly800=) c.2382G>A (p.Gly794=) c.2319G>A (p.Gly773=) | |
11 | g.47337705dup | CA2840399610 | MYBPC3 | c.2400dup (p.Gln801AlafsTer?) c.2400dup (p.Gln801AlafsTer7) c.2382dup (p.Gln795AlafsTer?) c.2319dup (p.Gln774AlafsTer?) | |
11 | g.47337704C>A | CA380318627 | MYBPC3 | c.2399G>T (p.Gly800Val) c.2381G>T (p.Gly794Val) c.2318G>T (p.Gly773Val) | ClinVar dbSNP gnomAD v4 |
11 | g.47337704C= | CA1969331570 | MYBPC3 | c.2399G= (p.Gly800=) c.2381G= (p.Gly794=) c.2318G= (p.Gly773=) | |
11 | g.47337704C>G | CA380318629 | MYBPC3 | c.2399G>C (p.Gly800Ala) c.2381G>C (p.Gly794Ala) c.2318G>C (p.Gly773Ala) | |
11 | g.47337704C>T | CA380318631 | MYBPC3 | c.2399G>A (p.Gly800Glu) c.2381G>A (p.Gly794Glu) c.2318G>A (p.Gly773Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47337705C>A | CA380318633 | MYBPC3 | c.2398G>T (p.Gly800Trp) c.2380G>T (p.Gly794Trp) c.2317G>T (p.Gly773Trp) | gnomAD v4 |
11 | g.47337705C= | CA1969331571 | MYBPC3 | c.2398G= (p.Gly800=) c.2380G= (p.Gly794=) c.2317G= (p.Gly773=) | |
11 | g.47337705C>G | CA380318635 | MYBPC3 | c.2398G>C (p.Gly800Arg) c.2380G>C (p.Gly794Arg) c.2317G>C (p.Gly773Arg) | |
11 | g.47337705C>T | CA012214 | MYBPC3 | c.2398G>A (p.Gly800Arg) c.2380G>A (p.Gly794Arg) c.2317G>A (p.Gly773Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337706G>A | CA078681 | MYBPC3 | c.2397C>T (p.Gly799=) c.2379C>T (p.Gly793=) c.2316C>T (p.Gly772=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337706G>C | CA474215832 | MYBPC3 | c.2397C>G (p.Gly799=) c.2379C>G (p.Gly793=) c.2316C>G (p.Gly772=) | |
11 | g.47337706G= | CA1969331572 | MYBPC3 | c.2397C= (p.Gly799=) c.2379C= (p.Gly793=) c.2316C= (p.Gly772=) | |
11 | g.47337706G>T | CA474215837 | MYBPC3 | c.2397C>A (p.Gly799=) c.2379C>A (p.Gly793=) c.2316C>A (p.Gly772=) | |
11 | g.47337707C>A | CA380318642 | MYBPC3 | c.2396G>T (p.Gly799Val) c.2378G>T (p.Gly793Val) c.2315G>T (p.Gly772Val) | gnomAD v4 |
11 | g.47337707C= | CA1969331573 | MYBPC3 | c.2396G= (p.Gly799=) c.2378G= (p.Gly793=) c.2315G= (p.Gly772=) | |
11 | g.47337707C>G | CA380318644 | MYBPC3 | c.2396G>C (p.Gly799Ala) c.2378G>C (p.Gly793Ala) c.2315G>C (p.Gly772Ala) | |
11 | g.47337707C>T | CA380318646 | MYBPC3 | c.2396G>A (p.Gly799Asp) c.2378G>A (p.Gly793Asp) c.2315G>A (p.Gly772Asp) | ClinVar dbSNP |
11 | g.47337708C>A | CA380318648 | MYBPC3 | c.2395G>T (p.Gly799Cys) c.2377G>T (p.Gly793Cys) c.2314G>T (p.Gly772Cys) | |
11 | g.47337708C= | CA1969331574 | MYBPC3 | c.2395G= (p.Gly799=) c.2377G= (p.Gly793=) c.2314G= (p.Gly772=) | |
11 | g.47337708C>G | CA380318650 | MYBPC3 | c.2395G>C (p.Gly799Arg) c.2377G>C (p.Gly793Arg) c.2314G>C (p.Gly772Arg) | |
11 | g.47337708C>T | CA049565 | MYBPC3 | c.2395G>A (p.Gly799Ser) c.2377G>A (p.Gly793Ser) c.2314G>A (p.Gly772Ser) | |
11 | g.47337709A= | CA1969331575 | MYBPC3 | c.2394T= (p.Asp798=) c.2376T= (p.Asp792=) c.2313T= (p.Asp771=) | |
11 | g.47337709A>C | CA380318654 | MYBPC3 | c.2394T>G (p.Asp798Glu) c.2376T>G (p.Asp792Glu) c.2313T>G (p.Asp771Glu) | |
11 | g.47337709A>G | CA221688892 | MYBPC3 | c.2394T>C (p.Asp798=) c.2376T>C (p.Asp792=) c.2313T>C (p.Asp771=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337709A>T | CA380318652 | MYBPC3 | c.2394T>A (p.Asp798Glu) c.2376T>A (p.Asp792Glu) c.2313T>A (p.Asp771Glu) | gnomAD v4 |
11 | g.47337709dup | CA012205 | MYBPC3 | c.2394dup (p.Gly799TrpfsTer?) c.2394dup (p.Gly799TrpfsTer9) c.2376dup (p.Gly793TrpfsTer?) c.2313dup (p.Gly772TrpfsTer?) | ClinVar dbSNP |
11 | g.47337710T>A | CA380318656 | MYBPC3 | c.2393A>T (p.Asp798Val) c.2375A>T (p.Asp792Val) c.2312A>T (p.Asp771Val) | |
11 | g.47337710T>C | CA380318658 | MYBPC3 | c.2393A>G (p.Asp798Gly) c.2375A>G (p.Asp792Gly) c.2312A>G (p.Asp771Gly) | |
11 | g.47337710T>G | CA380318660 | MYBPC3 | c.2393A>C (p.Asp798Ala) c.2375A>C (p.Asp792Ala) c.2312A>C (p.Asp771Ala) | |
11 | g.47337711C>A | CA380318662 | MYBPC3 | c.2392G>T (p.Asp798Tyr) c.2374G>T (p.Asp792Tyr) c.2311G>T (p.Asp771Tyr) | gnomAD v4 |
11 | g.47337711C= | CA1969331576 | MYBPC3 | c.2392G= (p.Asp798=) c.2374G= (p.Asp792=) c.2311G= (p.Asp771=) | |
11 | g.47337711C>G | CA380318664 | MYBPC3 | c.2392G>C (p.Asp798His) c.2374G>C (p.Asp792His) c.2311G>C (p.Asp771His) | |
11 | g.47337711C>T | CA078678 | MYBPC3 | c.2392G>A (p.Asp798Asn) c.2374G>A (p.Asp792Asn) c.2311G>A (p.Asp771Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47337712G>A | CA078676 | MYBPC3 | c.2391C>T (p.Tyr797=) c.2373C>T (p.Tyr791=) c.2310C>T (p.Tyr770=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337712G>C | CA380318667 | MYBPC3 | c.2391C>G (p.Tyr797Ter) c.2373C>G (p.Tyr791Ter) c.2310C>G (p.Tyr770Ter) | ClinVar dbSNP |
11 | g.47337712G= | CA1969331577 | MYBPC3 | c.2391C= (p.Tyr797=) c.2373C= (p.Tyr791=) c.2310C= (p.Tyr770=) | |
11 | g.47337712G>T | CA012195 | MYBPC3 | c.2391C>A (p.Tyr797Ter) c.2373C>A (p.Tyr791Ter) c.2310C>A (p.Tyr770Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.47337713T>A | CA380318672 | MYBPC3 | c.2390A>T (p.Tyr797Phe) c.2372A>T (p.Tyr791Phe) c.2309A>T (p.Tyr770Phe) | |
11 | g.47337713T>C | CA380318671 | MYBPC3 | c.2390A>G (p.Tyr797Cys) c.2372A>G (p.Tyr791Cys) c.2309A>G (p.Tyr770Cys) | ClinVar gnomAD v4 |
11 | g.47337713T>G | CA380318670 | MYBPC3 | c.2390A>C (p.Tyr797Ser) c.2372A>C (p.Tyr791Ser) c.2309A>C (p.Tyr770Ser) | |
11 | g.47337714A>C | CA380318674 | MYBPC3 | c.2389T>G (p.Tyr797Asp) c.2371T>G (p.Tyr791Asp) c.2308T>G (p.Tyr770Asp) | |
11 | g.47337714A>G | CA380318676 | MYBPC3 | c.2389T>C (p.Tyr797His) c.2371T>C (p.Tyr791His) c.2308T>C (p.Tyr770His) | |
11 | g.47337714A>T | CA380318678 | MYBPC3 | c.2389T>A (p.Tyr797Asn) c.2371T>A (p.Tyr791Asn) c.2308T>A (p.Tyr770Asn) | |
11 | g.47337715G>A | CA049499 | MYBPC3 | c.2388C>T (p.Ala796=) c.2370C>T (p.Ala790=) c.2307C>T (p.Ala769=) | gnomAD v4 |
11 | g.47337715G>C | CA474215938 | MYBPC3 | c.2388C>G (p.Ala796=) c.2370C>G (p.Ala790=) c.2307C>G (p.Ala769=) | |
11 | g.47337715G>T | CA474215955 | MYBPC3 | c.2388C>A (p.Ala796=) c.2370C>A (p.Ala790=) c.2307C>A (p.Ala769=) | |
11 | g.47337716G>A | CA380318680 | MYBPC3 | c.2387C>T (p.Ala796Val) c.2369C>T (p.Ala790Val) c.2306C>T (p.Ala769Val) | gnomAD v4 |
11 | g.47337716G>C | CA380318682 | MYBPC3 | c.2387C>G (p.Ala796Gly) c.2369C>G (p.Ala790Gly) c.2306C>G (p.Ala769Gly) | |
11 | g.47337716G>T | CA380318684 | MYBPC3 | c.2387C>A (p.Ala796Asp) c.2369C>A (p.Ala790Asp) c.2306C>A (p.Ala769Asp) | gnomAD v4 |
11 | g.47337717C>A | CA380318686 | MYBPC3 | c.2386G>T (p.Ala796Ser) c.2368G>T (p.Ala790Ser) c.2305G>T (p.Ala769Ser) | gnomAD v4 |
11 | g.47337717C>G | CA380318688 | MYBPC3 | c.2386G>C (p.Ala796Pro) c.2368G>C (p.Ala790Pro) c.2305G>C (p.Ala769Pro) | |
11 | g.47337717C>T | CA380318689 | MYBPC3 | c.2386G>A (p.Ala796Thr) c.2368G>A (p.Ala790Thr) c.2305G>A (p.Ala769Thr) | |
11 | g.47337718A>C | CA474215966 | MYBPC3 | c.2385T>G (p.Pro795=) c.2367T>G (p.Pro789=) c.2304T>G (p.Pro768=) | |
11 | g.47337718A>G | CA474215963 | MYBPC3 | c.2385T>C (p.Pro795=) c.2367T>C (p.Pro789=) c.2304T>C (p.Pro768=) | gnomAD v4 |
11 | g.47337718A>T | CA474215961 | MYBPC3 | c.2385T>A (p.Pro795=) c.2367T>A (p.Pro789=) c.2304T>A (p.Pro768=) | |
11 | g.47337719G>A | CA380318692 | MYBPC3 | c.2384C>T (p.Pro795Leu) c.2366C>T (p.Pro789Leu) c.2303C>T (p.Pro768Leu) | |
11 | g.47337719G>C | CA380318694 | MYBPC3 | c.2384C>G (p.Pro795Arg) c.2366C>G (p.Pro789Arg) c.2303C>G (p.Pro768Arg) | |
11 | g.47337719G>T | CA380318695 | MYBPC3 | c.2384C>A (p.Pro795His) c.2366C>A (p.Pro789His) c.2303C>A (p.Pro768His) | gnomAD v4 |
11 | g.47337720G>A | CA380318698 | MYBPC3 | c.2383C>T (p.Pro795Ser) c.2365C>T (p.Pro789Ser) c.2302C>T (p.Pro768Ser) | gnomAD v4 |
11 | g.47337720G>C | CA380318696 | MYBPC3 | c.2383C>G (p.Pro795Ala) c.2365C>G (p.Pro789Ala) c.2302C>G (p.Pro768Ala) | |
11 | g.47337720G= | CA1969331579 | MYBPC3 | c.2383C= (p.Pro795=) c.2365C= (p.Pro789=) c.2302C= (p.Pro768=) | |
11 | g.47337720G>T | CA380318697 | MYBPC3 | c.2383C>A (p.Pro795Thr) c.2365C>A (p.Pro789Thr) c.2302C>A (p.Pro768Thr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47337720_47337721delinsGC | CA1969331578 | MYBPC3 | c.2382_2383delinsGC (p.Pro794=) c.2364_2365delinsGC (p.Pro788=) c.2301_2302delinsGC (p.Pro767=) | |
11 | g.47337720_47337727del | CA2695212763 | MYBPC3 | c.2376_2383del (p.Trp792CysfsTer?) c.2376_2383del (p.Trp792CysfsTer13) c.2358_2365del (p.Trp786CysfsTer?) c.2295_2302del (p.Trp765CysfsTer?) | |
11 | g.47337721del | CA012182 | MYBPC3 | c.2382del (p.Pro795LeufsTer27) c.2382del (p.Pro795LeufsTer?) c.2364del (p.Pro789LeufsTer27) c.2301del (p.Pro768LeufsTer27) | ClinVar dbSNP |
11 | g.47337721C>A | CA474216020 | MYBPC3 | c.2382G>T (p.Pro794=) c.2364G>T (p.Pro788=) c.2301G>T (p.Pro767=) | gnomAD v4 |
11 | g.47337721C= | CA1969331580 | MYBPC3 | c.2382G= (p.Pro794=) c.2364G= (p.Pro788=) c.2301G= (p.Pro767=) | |
11 | g.47337721C>G | CA474215992 | MYBPC3 | c.2382G>C (p.Pro794=) c.2364G>C (p.Pro788=) c.2301G>C (p.Pro767=) | |
11 | g.47337721C>T | CA474216016 | MYBPC3 | c.2382G>A (p.Pro794=) c.2364G>A (p.Pro788=) c.2301G>A (p.Pro767=) | ClinVar dbSNP gnomAD v4 |
11 | g.47337722G>A | CA012173 | MYBPC3 | c.2381C>T (p.Pro794Leu) c.2363C>T (p.Pro788Leu) c.2300C>T (p.Pro767Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337722G>C | CA380318702 | MYBPC3 | c.2381C>G (p.Pro794Arg) c.2363C>G (p.Pro788Arg) c.2300C>G (p.Pro767Arg) | |
11 | g.47337722G= | CA1969331581 | MYBPC3 | c.2381C= (p.Pro794=) c.2363C= (p.Pro788=) c.2300C= (p.Pro767=) | |
11 | g.47337722G>T | CA380318703 | MYBPC3 | c.2381C>A (p.Pro794Gln) c.2363C>A (p.Pro788Gln) c.2300C>A (p.Pro767Gln) | gnomAD v4 |
11 | g.47337723G>A | CA380318706 | MYBPC3 | c.2380C>T (p.Pro794Ser) c.2362C>T (p.Pro788Ser) c.2299C>T (p.Pro767Ser) | gnomAD v4 |
11 | g.47337723G>C | CA380318708 | MYBPC3 | c.2380C>G (p.Pro794Ala) c.2362C>G (p.Pro788Ala) c.2299C>G (p.Pro767Ala) | |
11 | g.47337723G= | CA1969331582 | MYBPC3 | c.2380C= (p.Pro794=) c.2362C= (p.Pro788=) c.2299C= (p.Pro767=) | |
11 | g.47337723G>T | CA380318710 | MYBPC3 | c.2380C>A (p.Pro794Thr) c.2362C>A (p.Pro788Thr) c.2299C>A (p.Pro767Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337724C>A | CA380318712 | MYBPC3 | c.2379G>T (p.Glu793Asp) c.2361G>T (p.Glu787Asp) c.2298G>T (p.Glu766Asp) | |
11 | g.47337724C= | CA1969331583 | MYBPC3 | c.2379G= (p.Glu793=) c.2361G= (p.Glu787=) c.2298G= (p.Glu766=) | |
11 | g.47337724C>G | CA380318714 | MYBPC3 | c.2379G>C (p.Glu793Asp) c.2361G>C (p.Glu787Asp) c.2298G>C (p.Glu766Asp) | |
11 | g.47337724C>T | CA474216028 | MYBPC3 | c.2379G>A (p.Glu793=) c.2361G>A (p.Glu787=) c.2298G>A (p.Glu766=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47337725T>A | CA380318716 | MYBPC3 | c.2378A>T (p.Glu793Val) c.2360A>T (p.Glu787Val) c.2297A>T (p.Glu766Val) | |
11 | g.47337725T>C | CA380318718 | MYBPC3 | c.2378A>G (p.Glu793Gly) c.2360A>G (p.Glu787Gly) c.2297A>G (p.Glu766Gly) | |
11 | g.47337725T>G | CA380318720 | MYBPC3 | c.2378A>C (p.Glu793Ala) c.2360A>C (p.Glu787Ala) c.2297A>C (p.Glu766Ala) | dbSNP |
11 | g.47337725T= | CA1969331584 | MYBPC3 | c.2378A= (p.Glu793=) c.2360A= (p.Glu787=) c.2297A= (p.Glu766=) | |
11 | g.47337726C>A | CA380318727 | MYBPC3 | c.2377G>T (p.Glu793Ter) c.2359G>T (p.Glu787Ter) c.2296G>T (p.Glu766Ter) | gnomAD v4 |
11 | g.47337726C= | CA1969331585 | MYBPC3 | c.2377G= (p.Glu793=) c.2359G= (p.Glu787=) c.2296G= (p.Glu766=) | |
11 | g.47337726C>G | CA078671 | MYBPC3 | c.2377G>C (p.Glu793Gln) c.2359G>C (p.Glu787Gln) c.2296G>C (p.Glu766Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47337726C>T | CA380318722 | MYBPC3 | c.2377G>A (p.Glu793Lys) c.2359G>A (p.Glu787Lys) c.2296G>A (p.Glu766Lys) | gnomAD v4 |
11 | g.47337728dup | CA891842473 | MYBPC3 | c.2377dup (p.Glu793GlyfsTer?) c.2377dup (p.Glu793GlyfsTer15) c.2359dup (p.Glu787GlyfsTer?) c.2296dup (p.Glu766GlyfsTer?) | ClinVar dbSNP |
11 | g.47337727C>A | CA380318730 | MYBPC3 | c.2376G>T (p.Trp792Cys) c.2358G>T (p.Trp786Cys) c.2295G>T (p.Trp765Cys) | |
11 | g.47337727C= | CA1969331586 | MYBPC3 | c.2376G= (p.Trp792=) c.2358G= (p.Trp786=) c.2295G= (p.Trp765=) | |
11 | g.47337727C>G | CA380318729 | MYBPC3 | c.2376G>C (p.Trp792Cys) c.2358G>C (p.Trp786Cys) c.2295G>C (p.Trp765Cys) | |
11 | g.47337727C>T | CA279280 | MYBPC3 | c.2376G>A (p.Trp792Ter) c.2358G>A (p.Trp786Ter) c.2295G>A (p.Trp765Ter) | ClinVar dbSNP |
11 | g.47337728C>A | CA049778 | MYBPC3 | c.2375G>T (p.Trp792Leu) c.2357G>T (p.Trp786Leu) c.2294G>T (p.Trp765Leu) | ClinVar gnomAD v4 |
11 | g.47337728C>G | CA380318733 | MYBPC3 | c.2375G>C (p.Trp792Ser) c.2357G>C (p.Trp786Ser) c.2294G>C (p.Trp765Ser) | |
11 | g.47337728C>T | CA380318735 | MYBPC3 | c.2375G>A (p.Trp792Ter) c.2357G>A (p.Trp786Ter) c.2294G>A (p.Trp765Ter) | ClinVar |
11 | g.47337729A= | CA1969331587 | MYBPC3 | c.2374T= (p.Trp792=) c.2356T= (p.Trp786=) c.2293T= (p.Trp765=) | |
11 | g.47337729A>C | CA221688921 | MYBPC3 | c.2374T>G (p.Trp792Gly) c.2356T>G (p.Trp786Gly) c.2293T>G (p.Trp765Gly) | dbSNP |
11 | g.47337729A>G | CA012147 | MYBPC3 | c.2374T>C (p.Trp792Arg) c.2356T>C (p.Trp786Arg) c.2293T>C (p.Trp765Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337729A>T | CA380318738 | MYBPC3 | c.2374T>A (p.Trp792Arg) c.2356T>A (p.Trp786Arg) c.2293T>A (p.Trp765Arg) | ClinVar dbSNP |
11 | g.47337730C>A | CA380318741 | MYBPC3 | c.2373G>T (p.Gln791His) c.2355G>T (p.Gln785His) c.2292G>T (p.Gln764His) | gnomAD v4 |
11 | g.47337730C= | CA1969331588 | MYBPC3 | c.2373G= (p.Gln791=) c.2355G= (p.Gln785=) c.2292G= (p.Gln764=) | |
11 | g.47337730C>G | CA380318743 | MYBPC3 | c.2373G>C (p.Gln791His) c.2355G>C (p.Gln785His) c.2292G>C (p.Gln764His) | |
11 | g.47337730C>T | CA474216081 | MYBPC3 | c.2373G>A (p.Gln791=) c.2355G>A (p.Gln785=) c.2292G>A (p.Gln764=) | gnomAD v4 |
11 | g.47337730dup | CA012139 | MYBPC3 | c.2373dup (p.Trp792ValfsTer?) c.2373dup (p.Trp792ValfsTer16) c.2355dup (p.Trp786ValfsTer?) c.2292dup (p.Trp765ValfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337731T>A | CA380318752 | MYBPC3 | c.2372A>T (p.Gln791Leu) c.2354A>T (p.Gln785Leu) c.2291A>T (p.Gln764Leu) | gnomAD v4 |
11 | g.47337731T>C | CA078668 | MYBPC3 | c.2372A>G (p.Gln791Arg) c.2354A>G (p.Gln785Arg) c.2291A>G (p.Gln764Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47337731T>G | CA380318756 | MYBPC3 | c.2372A>C (p.Gln791Pro) c.2354A>C (p.Gln785Pro) c.2291A>C (p.Gln764Pro) | ClinVar dbSNP |
11 | g.47337731T= | CA1969331589 | MYBPC3 | c.2372A= (p.Gln791=) c.2354A= (p.Gln785=) c.2291A= (p.Gln764=) | |
11 | g.47337731dup | CA221688928 | MYBPC3 | c.2372dup (p.Trp792ValfsTer?) c.2372dup (p.Trp792ValfsTer16) c.2354dup (p.Trp786ValfsTer?) c.2291dup (p.Trp765ValfsTer?) | dbSNP |
11 | g.47337732G>A | CA279318 | MYBPC3 | c.2371C>T (p.Gln791Ter) c.2353C>T (p.Gln785Ter) c.2290C>T (p.Gln764Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.47337732G>C | CA380318760 | MYBPC3 | c.2371C>G (p.Gln791Glu) c.2353C>G (p.Gln785Glu) c.2290C>G (p.Gln764Glu) | |
11 | g.47337732G= | CA1969331590 | MYBPC3 | c.2371C= (p.Gln791=) c.2353C= (p.Gln785=) c.2290C= (p.Gln764=) | |
11 | g.47337732G>T | CA380318763 | MYBPC3 | c.2371C>A (p.Gln791Lys) c.2353C>A (p.Gln785Lys) c.2290C>A (p.Gln764Lys) | |
11 | g.47337733T>A | CA474216097 | MYBPC3 | c.2370A>T (p.Val790=) c.2352A>T (p.Val784=) c.2289A>T (p.Val763=) | |
11 | g.47337733T>C | CA474216098 | MYBPC3 | c.2370A>G (p.Val790=) c.2352A>G (p.Val784=) c.2289A>G (p.Val763=) | ClinVar dbSNP |
11 | g.47337733T>G | CA474216101 | MYBPC3 | c.2370A>C (p.Val790=) c.2352A>C (p.Val784=) c.2289A>C (p.Val763=) | |
11 | g.47337733T= | CA1969331591 | MYBPC3 | c.2370A= (p.Val790=) c.2352A= (p.Val784=) c.2289A= (p.Val763=) | |
11 | g.47337734del | CA2840399611 | MYBPC3 | c.2369del (p.Val790AspfsTer?) c.2351del (p.Val784AspfsTer?) c.2288del (p.Val763AspfsTer?) | |
11 | g.47337734A>C | CA380318768 | MYBPC3 | c.2369T>G (p.Val790Gly) c.2351T>G (p.Val784Gly) c.2288T>G (p.Val763Gly) | |
11 | g.47337734A>G | CA380318771 | MYBPC3 | c.2369T>C (p.Val790Ala) c.2351T>C (p.Val784Ala) c.2288T>C (p.Val763Ala) | gnomAD v4 COSMIC |
11 | g.47337734A>T | CA380318774 | MYBPC3 | c.2369T>A (p.Val790Glu) c.2351T>A (p.Val784Glu) c.2288T>A (p.Val763Glu) | gnomAD v4 |
11 | g.47337735C>A | CA380318777 | MYBPC3 | c.2368G>T (p.Val790Leu) c.2350G>T (p.Val784Leu) c.2287G>T (p.Val763Leu) | |
11 | g.47337735C= | CA1969331592 | MYBPC3 | c.2368G= (p.Val790=) c.2350G= (p.Val784=) c.2287G= (p.Val763=) | |
11 | g.47337735C>G | CA380318780 | MYBPC3 | c.2368G>C (p.Val790Leu) c.2350G>C (p.Val784Leu) c.2287G>C (p.Val763Leu) | dbSNP |
11 | g.47337735C>T | CA380318782 | MYBPC3 | c.2368G>A (p.Val790Ile) c.2350G>A (p.Val784Ile) c.2287G>A (p.Val763Ile) | gnomAD v4 |
11 | g.47337736T>A | CA474216124 | MYBPC3 | c.2367A>T (p.Thr789=) c.2349A>T (p.Thr783=) c.2286A>T (p.Thr762=) | gnomAD v4 |
11 | g.47337736T>C | CA474216118 | MYBPC3 | c.2367A>G (p.Thr789=) c.2349A>G (p.Thr783=) c.2286A>G (p.Thr762=) | gnomAD v4 |
11 | g.47337736T>G | CA474216121 | MYBPC3 | c.2367A>C (p.Thr789=) c.2349A>C (p.Thr783=) c.2286A>C (p.Thr762=) | gnomAD v4 |
11 | g.47337736dup | CA913187723 | MYBPC3 | c.2367dup (p.Val790SerfsTer?) c.2367dup (p.Val790SerfsTer18) c.2349dup (p.Val784SerfsTer?) c.2286dup (p.Val763SerfsTer?) | ClinVar |
11 | g.47337737G>A | CA380318786 | MYBPC3 | c.2366C>T (p.Thr789Ile) c.2348C>T (p.Thr783Ile) c.2285C>T (p.Thr762Ile) | ClinVar dbSNP gnomAD v4 |
11 | g.47337737G>C | CA380318789 | MYBPC3 | c.2366C>G (p.Thr789Arg) c.2348C>G (p.Thr783Arg) c.2285C>G (p.Thr762Arg) | gnomAD v4 |
11 | g.47337737G>T | CA380318791 | MYBPC3 | c.2366C>A (p.Thr789Lys) c.2348C>A (p.Thr783Lys) c.2285C>A (p.Thr762Lys) | gnomAD v4 |
11 | g.47337737_47337738insACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGT | CA2613392508 | MYBPC3 | c.2365_2366insACAGGCTCCAAGCAGTTAAATGACCTGCTTGAGATCTCCCAGCTGGT (p.Thr789AsnfsTer8) c.2347_2348insACAGGCTCCAAGCAGTTAAATGACCTGCTTGAGATCTCCCAGCTGGT (p.Thr783AsnfsTer8) c.2284_2285insACAGGCTCCAAGCAGTTAAATGACCTGCTTGAGATCTCCCAGCTGGT (p.Thr762AsnfsTer8) | gnomAD v4 |
11 | g.47337738T>A | CA380318796 | MYBPC3 | c.2365A>T (p.Thr789Ser) c.2347A>T (p.Thr783Ser) c.2284A>T (p.Thr762Ser) | |
11 | g.47337738T>C | CA380318799 | MYBPC3 | c.2365A>G (p.Thr789Ala) c.2347A>G (p.Thr783Ala) c.2284A>G (p.Thr762Ala) | gnomAD v4 |
11 | g.47337738T>G | CA380318801 | MYBPC3 | c.2365A>C (p.Thr789Pro) c.2347A>C (p.Thr783Pro) c.2284A>C (p.Thr762Pro) | |
11 | g.47337739G>A | CA474216146 | MYBPC3 | c.2364C>T (p.Cys788=) c.2346C>T (p.Cys782=) c.2283C>T (p.Cys761=) | gnomAD v4 |
11 | g.47337739G>C | CA380318808 | MYBPC3 | c.2364C>G (p.Cys788Trp) c.2346C>G (p.Cys782Trp) c.2283C>G (p.Cys761Trp) | |
11 | g.47337739G>T | CA380318805 | MYBPC3 | c.2364C>A (p.Cys788Ter) c.2346C>A (p.Cys782Ter) c.2283C>A (p.Cys761Ter) | ClinVar gnomAD v4 |
11 | g.47337740C>A | CA078665 | MYBPC3 | c.2363G>T (p.Cys788Phe) c.2345G>T (p.Cys782Phe) c.2282G>T (p.Cys761Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47337740C= | CA1969331593 | MYBPC3 | c.2363G= (p.Cys788=) c.2345G= (p.Cys782=) c.2282G= (p.Cys761=) | |
11 | g.47337740C>G | CA380318809 | MYBPC3 | c.2363G>C (p.Cys788Ser) c.2345G>C (p.Cys782Ser) c.2282G>C (p.Cys761Ser) | |
11 | g.47337740C>T | CA380318811 | MYBPC3 | c.2363G>A (p.Cys788Tyr) c.2345G>A (p.Cys782Tyr) c.2282G>A (p.Cys761Tyr) | gnomAD v4 |
11 | g.47337741A>C | CA380318814 | MYBPC3 | c.2362T>G (p.Cys788Gly) c.2344T>G (p.Cys782Gly) c.2281T>G (p.Cys761Gly) | gnomAD v4 |
11 | g.47337741A>G | CA380318816 | MYBPC3 | c.2362T>C (p.Cys788Arg) c.2344T>C (p.Cys782Arg) c.2281T>C (p.Cys761Arg) | ClinVar gnomAD v4 |
11 | g.47337741A>T | CA380318817 | MYBPC3 | c.2362T>A (p.Cys788Ser) c.2344T>A (p.Cys782Ser) c.2281T>A (p.Cys761Ser) | |
11 | g.47337741dup | CA923726204 | MYBPC3 | c.2362dup (p.Cys788LeufsTer?) c.2362dup (p.Cys788LeufsTer20) c.2344dup (p.Cys782LeufsTer?) c.2281dup (p.Cys761LeufsTer?) | |
11 | g.47337743_47337745dup | CA913187726 | MYBPC3 | c.2360_2362dup (p.Ser787_Cys788insSer) c.2342_2344dup (p.Ser781_Cys782insSer) c.2279_2281dup (p.Ser760_Cys761insSer) | ClinVar dbSNP |
11 | g.47337742G>A | CA474216184 | MYBPC3 | c.2361C>T (p.Ser787=) c.2343C>T (p.Ser781=) c.2280C>T (p.Ser760=) | gnomAD v4 |
11 | g.47337742G>C | CA474216187 | MYBPC3 | c.2361C>G (p.Ser787=) c.2343C>G (p.Ser781=) c.2280C>G (p.Ser760=) | |
11 | g.47337742G>T | CA474216186 | MYBPC3 | c.2361C>A (p.Ser787=) c.2343C>A (p.Ser781=) c.2280C>A (p.Ser760=) | gnomAD v4 |
11 | g.47337743G>A | CA380318828 | MYBPC3 | c.2360C>T (p.Ser787Phe) c.2342C>T (p.Ser781Phe) c.2279C>T (p.Ser760Phe) | gnomAD v4 |
11 | g.47337743G>C | CA380318822 | MYBPC3 | c.2360C>G (p.Ser787Cys) c.2342C>G (p.Ser781Cys) c.2279C>G (p.Ser760Cys) | |
11 | g.47337743G>T | CA380318825 | MYBPC3 | c.2360C>A (p.Ser787Tyr) c.2342C>A (p.Ser781Tyr) c.2279C>A (p.Ser760Tyr) | gnomAD v4 |
11 | g.47337744A>C | CA380318832 | MYBPC3 | c.2359T>G (p.Ser787Ala) c.2341T>G (p.Ser781Ala) c.2278T>G (p.Ser760Ala) | gnomAD v4 |
11 | g.47337744A>G | CA380318834 | MYBPC3 | c.2359T>C (p.Ser787Pro) c.2341T>C (p.Ser781Pro) c.2278T>C (p.Ser760Pro) | |
11 | g.47337744A>T | CA380318835 | MYBPC3 | c.2359T>A (p.Ser787Thr) c.2341T>A (p.Ser781Thr) c.2278T>A (p.Ser760Thr) | |
11 | g.47337745G>A | CA474216213 | MYBPC3 | c.2358C>T (p.Asp786=) c.2340C>T (p.Asp780=) c.2277C>T (p.Asp759=) | |
11 | g.47337745G>C | CA380318840 | MYBPC3 | c.2358C>G (p.Asp786Glu) c.2340C>G (p.Asp780Glu) c.2277C>G (p.Asp759Glu) | |
11 | g.47337745G>T | CA380318843 | MYBPC3 | c.2358C>A (p.Asp786Glu) c.2340C>A (p.Asp780Glu) c.2277C>A (p.Asp759Glu) | gnomAD v4 |
11 | g.47337746T>A | CA380318847 | MYBPC3 | c.2357A>T (p.Asp786Val) c.2339A>T (p.Asp780Val) c.2276A>T (p.Asp759Val) | |
11 | g.47337746T>C | CA380318853 | MYBPC3 | c.2357A>G (p.Asp786Gly) c.2339A>G (p.Asp780Gly) c.2276A>G (p.Asp759Gly) | ClinVar dbSNP gnomAD v4 |
11 | g.47337746T>G | CA380318850 | MYBPC3 | c.2357A>C (p.Asp786Ala) c.2339A>C (p.Asp780Ala) c.2276A>C (p.Asp759Ala) | dbSNP |
11 | g.47337746T= | CA1969331594 | MYBPC3 | c.2357A= (p.Asp786=) c.2339A= (p.Asp780=) c.2276A= (p.Asp759=) | |
11 | g.47337748_47337750del | CA2724174851 | MYBPC3 | c.2355_2357del (p.Glu785del) c.2337_2339del (p.Glu779del) c.2274_2276del (p.Glu758del) | dbSNP |
11 | g.47337749_47337753del | CA2573051152 | MYBPC3 | c.2353_2357del (p.Glu785LeufsTer?) c.2353_2357del (p.Glu785LeufsTer21) c.2335_2339del (p.Glu779LeufsTer?) c.2272_2276del (p.Glu758LeufsTer?) | |
11 | g.47337747C>A | CA380318856 | MYBPC3 | c.2356G>T (p.Asp786Tyr) c.2338G>T (p.Asp780Tyr) c.2275G>T (p.Asp759Tyr) | ClinVar dbSNP gnomAD v4 |
11 | g.47337747C>G | CA380318858 | MYBPC3 | c.2356G>C (p.Asp786His) c.2338G>C (p.Asp780His) c.2275G>C (p.Asp759His) | |
11 | g.47337747C>T | CA380318861 | MYBPC3 | c.2356G>A (p.Asp786Asn) c.2338G>A (p.Asp780Asn) c.2275G>A (p.Asp759Asn) | |
11 | g.47337748C>A | CA380318865 | MYBPC3 | c.2355G>T (p.Glu785Asp) c.2337G>T (p.Glu779Asp) c.2274G>T (p.Glu758Asp) | gnomAD v4 |
11 | g.47337748C= | CA1969331595 | MYBPC3 | c.2355G= (p.Glu785=) c.2337G= (p.Glu779=) c.2274G= (p.Glu758=) | |
11 | g.47337748C>G | CA380318867 | MYBPC3 | c.2355G>C (p.Glu785Asp) c.2337G>C (p.Glu779Asp) c.2274G>C (p.Glu758Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47337748C>T | CA474216263 | MYBPC3 | c.2355G>A (p.Glu785=) c.2337G>A (p.Glu779=) c.2274G>A (p.Glu758=) | gnomAD v4 |
11 | g.47337749T>A | CA380318871 | MYBPC3 | c.2354A>T (p.Glu785Val) c.2336A>T (p.Glu779Val) c.2273A>T (p.Glu758Val) | |
11 | g.47337749T>C | CA380318874 | MYBPC3 | c.2354A>G (p.Glu785Gly) c.2336A>G (p.Glu779Gly) c.2273A>G (p.Glu758Gly) | gnomAD v4 |
11 | g.47337749T>G | CA380318877 | MYBPC3 | c.2354A>C (p.Glu785Ala) c.2336A>C (p.Glu779Ala) c.2273A>C (p.Glu758Ala) | |
11 | g.47337750C>A | CA380318881 | MYBPC3 | c.2353G>T (p.Glu785Ter) c.2335G>T (p.Glu779Ter) c.2272G>T (p.Glu758Ter) | gnomAD v4 |
11 | g.47337750C= | CA1969331596 | MYBPC3 | c.2353G= (p.Glu785=) c.2335G= (p.Glu779=) c.2272G= (p.Glu758=) | |
11 | g.47337750C>G | CA380318883 | MYBPC3 | c.2353G>C (p.Glu785Gln) c.2335G>C (p.Glu779Gln) c.2272G>C (p.Glu758Gln) | |
11 | g.47337750C>T | CA380318891 | MYBPC3 | c.2353G>A (p.Glu785Lys) c.2335G>A (p.Glu779Lys) c.2272G>A (p.Glu758Lys) | dbSNP |
11 | g.47337751T>A | CA474216280 | MYBPC3 | c.2352A>T (p.Gly784=) c.2334A>T (p.Gly778=) c.2271A>T (p.Gly757=) | |
11 | g.47337751T>C | CA078663 | MYBPC3 | c.2352A>G (p.Gly784=) c.2334A>G (p.Gly778=) c.2271A>G (p.Gly757=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47337751T>G | CA474216299 | MYBPC3 | c.2352A>C (p.Gly784=) c.2334A>C (p.Gly778=) c.2271A>C (p.Gly757=) | |
11 | g.47337751T= | CA1969331597 | MYBPC3 | c.2352A= (p.Gly784=) c.2334A= (p.Gly778=) c.2271A= (p.Gly757=) | |
11 | g.47337752C>A | CA380318902 | MYBPC3 | c.2351G>T (p.Gly784Val) c.2333G>T (p.Gly778Val) c.2270G>T (p.Gly757Val) | gnomAD v4 |
11 | g.47337752C= | CA1969331598 | MYBPC3 | c.2351G= (p.Gly784=) c.2333G= (p.Gly778=) c.2270G= (p.Gly757=) | |
11 | g.47337752C>G | CA380318905 | MYBPC3 | c.2351G>C (p.Gly784Ala) c.2333G>C (p.Gly778Ala) c.2270G>C (p.Gly757Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47337752C>T | CA221688960 | MYBPC3 | c.2351G>A (p.Gly784Glu) c.2333G>A (p.Gly778Glu) c.2270G>A (p.Gly757Glu) | ClinVar dbSNP gnomAD v4 |
11 | g.47337754del | CA2574816039 | MYBPC3 | c.2351del (p.Gly784GlufsTer?) c.2333del (p.Gly778GlufsTer?) c.2270del (p.Gly757GlufsTer?) | |
11 | g.47337753C>A | CA380318908 | MYBPC3 | c.2350G>T (p.Gly784Ter) c.2332G>T (p.Gly778Ter) c.2269G>T (p.Gly757Ter) | gnomAD v4 |
11 | g.47337753C= | CA1969331599 | MYBPC3 | c.2350G= (p.Gly784=) c.2332G= (p.Gly778=) c.2269G= (p.Gly757=) | |
11 | g.47337753C>G | CA380318913 | MYBPC3 | c.2350G>C (p.Gly784Arg) c.2332G>C (p.Gly778Arg) c.2269G>C (p.Gly757Arg) | |
11 | g.47337753C>T | CA380318910 | MYBPC3 | c.2350G>A (p.Gly784Arg) c.2332G>A (p.Gly778Arg) c.2269G>A (p.Gly757Arg) | ClinVar dbSNP gnomAD v2 |
11 | g.47337754C>A | CA474216328 | MYBPC3 | c.2349G>T (p.Val783=) c.2331G>T (p.Val777=) c.2268G>T (p.Val756=) | gnomAD v4 |
11 | g.47337754C>G | CA474216330 | MYBPC3 | c.2349G>C (p.Val783=) c.2331G>C (p.Val777=) c.2268G>C (p.Val756=) | |
11 | g.47337754C>T | CA474216333 | MYBPC3 | c.2349G>A (p.Val783=) c.2331G>A (p.Val777=) c.2268G>A (p.Val756=) | gnomAD v4 |
11 | g.47337755A= | CA1969331600 | MYBPC3 | c.2348T= (p.Val783=) c.2330T= (p.Val777=) c.2267T= (p.Val756=) | |
11 | g.47337755A>C | CA380318917 | MYBPC3 | c.2348T>G (p.Val783Gly) c.2330T>G (p.Val777Gly) c.2267T>G (p.Val756Gly) | |
11 | g.47337755A>G | CA380318923 | MYBPC3 | c.2348T>C (p.Val783Ala) c.2330T>C (p.Val777Ala) c.2267T>C (p.Val756Ala) | dbSNP gnomAD v4 |
11 | g.47337755A>T | CA380318920 | MYBPC3 | c.2348T>A (p.Val783Glu) c.2330T>A (p.Val777Glu) c.2267T>A (p.Val756Glu) | |
11 | g.47337756C>A | CA16609755 | MYBPC3 | c.2347G>T (p.Val783Leu) c.2329G>T (p.Val777Leu) c.2266G>T (p.Val756Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337756C= | CA1969331601 | MYBPC3 | c.2347G= (p.Val783=) c.2329G= (p.Val777=) c.2266G= (p.Val756=) | |
11 | g.47337756C>G | CA380318929 | MYBPC3 | c.2347G>C (p.Val783Leu) c.2329G>C (p.Val777Leu) c.2266G>C (p.Val756Leu) | |
11 | g.47337756C>T | CA380318933 | MYBPC3 | c.2347G>A (p.Val783Met) c.2329G>A (p.Val777Met) c.2266G>A (p.Val756Met) | ClinVar dbSNP gnomAD v4 |
11 | g.47337757G>A | CA078662 | MYBPC3 | c.2346C>T (p.Asn782=) c.2328C>T (p.Asn776=) c.2265C>T (p.Asn755=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47337757G>C | CA380318939 | MYBPC3 | c.2346C>G (p.Asn782Lys) c.2328C>G (p.Asn776Lys) c.2265C>G (p.Asn755Lys) | |
11 | g.47337757G= | CA1969331602 | MYBPC3 | c.2346C= (p.Asn782=) c.2328C= (p.Asn776=) c.2265C= (p.Asn755=) | |
11 | g.47337757G>T | CA380318942 | MYBPC3 | c.2346C>A (p.Asn782Lys) c.2328C>A (p.Asn776Lys) c.2265C>A (p.Asn755Lys) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47337758T>A | CA380318946 | MYBPC3 | c.2345A>T (p.Asn782Ile) c.2327A>T (p.Asn776Ile) c.2264A>T (p.Asn755Ile) | |
11 | g.47337758T>C | CA078660 | MYBPC3 | c.2345A>G (p.Asn782Ser) c.2327A>G (p.Asn776Ser) c.2264A>G (p.Asn755Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337758T>G | CA380318951 | MYBPC3 | c.2345A>C (p.Asn782Thr) c.2327A>C (p.Asn776Thr) c.2264A>C (p.Asn755Thr) | |
11 | g.47337758T= | CA1969331603 | MYBPC3 | c.2345A= (p.Asn782=) c.2327A= (p.Asn776=) c.2264A= (p.Asn755=) | |
11 | g.47337759T>A | CA380318954 | MYBPC3 | c.2344A>T (p.Asn782Tyr) c.2326A>T (p.Asn776Tyr) c.2263A>T (p.Asn755Tyr) | gnomAD v4 |
11 | g.47337759T>C | CA380318956 | MYBPC3 | c.2344A>G (p.Asn782Asp) c.2326A>G (p.Asn776Asp) c.2263A>G (p.Asn755Asp) | gnomAD v4 |
11 | g.47337759T>G | CA380318957 | MYBPC3 | c.2344A>C (p.Asn782His) c.2326A>C (p.Asn776His) c.2263A>C (p.Asn755His) | |
11 | g.47337760G>A | CA049395 | MYBPC3 | c.2343C>T (p.Ser781=) c.2325C>T (p.Ser775=) c.2262C>T (p.Ser754=) | gnomAD v4 |
11 | g.47337760G>C | CA380318960 | MYBPC3 | c.2343C>G (p.Ser781Arg) c.2325C>G (p.Ser775Arg) c.2262C>G (p.Ser754Arg) | gnomAD v4 |
11 | g.47337760G>T | CA380318963 | MYBPC3 | c.2343C>A (p.Ser781Arg) c.2325C>A (p.Ser775Arg) c.2262C>A (p.Ser754Arg) | ClinVar gnomAD v4 |
11 | g.47337761C>A | CA380318966 | MYBPC3 | c.2342G>T (p.Ser781Ile) c.2324G>T (p.Ser775Ile) c.2261G>T (p.Ser754Ile) | gnomAD v4 |
11 | g.47337761C= | CA1969331604 | MYBPC3 | c.2342G= (p.Ser781=) c.2324G= (p.Ser775=) c.2261G= (p.Ser754=) | |
11 | g.47337761C>G | CA380318969 | MYBPC3 | c.2342G>C (p.Ser781Thr) c.2324G>C (p.Ser775Thr) c.2261G>C (p.Ser754Thr) | |
11 | g.47337761C>T | CA380318973 | MYBPC3 | c.2342G>A (p.Ser781Asn) c.2324G>A (p.Ser775Asn) c.2261G>A (p.Ser754Asn) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47337762T>A | CA380318977 | MYBPC3 | c.2341A>T (p.Ser781Cys) c.2323A>T (p.Ser775Cys) c.2260A>T (p.Ser754Cys) | |
11 | g.47337762T>C | CA380318988 | MYBPC3 | c.2341A>G (p.Ser781Gly) c.2323A>G (p.Ser775Gly) c.2260A>G (p.Ser754Gly) | ClinVar dbSNP gnomAD v4 |
11 | g.47337762T>G | CA380318989 | MYBPC3 | c.2341A>C (p.Ser781Arg) c.2323A>C (p.Ser775Arg) c.2260A>C (p.Ser754Arg) | |
11 | g.47337762T= | CA1969331605 | MYBPC3 | c.2341A= (p.Ser781=) c.2323A= (p.Ser775=) c.2260A= (p.Ser754=) | |
11 | g.47337763G>A | CA474216414 | MYBPC3 | c.2340C>T (p.Ile780=) c.2322C>T (p.Ile774=) c.2259C>T (p.Ile753=) | gnomAD v4 |
11 | g.47337763G>C | CA380318995 | MYBPC3 | c.2340C>G (p.Ile780Met) c.2322C>G (p.Ile774Met) c.2259C>G (p.Ile753Met) | gnomAD v4 |
11 | g.47337763G>T | CA474216417 | MYBPC3 | c.2340C>A (p.Ile780=) c.2322C>A (p.Ile774=) c.2259C>A (p.Ile753=) | gnomAD v4 |
11 | g.47337764A= | CA1969331606 | MYBPC3 | c.2339T= (p.Ile780=) c.2321T= (p.Ile774=) c.2258T= (p.Ile753=) | |
11 | g.47337764A>C | CA078657 | MYBPC3 | c.2339T>G (p.Ile780Ser) c.2321T>G (p.Ile774Ser) c.2258T>G (p.Ile753Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337764A>G | CA380319000 | MYBPC3 | c.2339T>C (p.Ile780Thr) c.2321T>C (p.Ile774Thr) c.2258T>C (p.Ile753Thr) | ClinVar dbSNP gnomAD v4 |
11 | g.47337764A>T | CA380319003 | MYBPC3 | c.2339T>A (p.Ile780Asn) c.2321T>A (p.Ile774Asn) c.2258T>A (p.Ile753Asn) | |
11 | g.47337765T>A | CA380319010 | MYBPC3 | c.2338A>T (p.Ile780Phe) c.2320A>T (p.Ile774Phe) c.2257A>T (p.Ile753Phe) | ClinVar |
11 | g.47337765T>C | CA380319012 | MYBPC3 | c.2338A>G (p.Ile780Val) c.2320A>G (p.Ile774Val) c.2257A>G (p.Ile753Val) | ClinVar COSMIC COSMIC |
11 | g.47337765T>G | CA380319008 | MYBPC3 | c.2338A>C (p.Ile780Leu) c.2320A>C (p.Ile774Leu) c.2257A>C (p.Ile753Leu) | |
11 | g.47337766C>A | CA078656 | MYBPC3 | c.2337G>T (p.Lys779Asn) c.2319G>T (p.Lys773Asn) c.2256G>T (p.Lys752Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47337766C= | CA1969331607 | MYBPC3 | c.2337G= (p.Lys779=) c.2319G= (p.Lys773=) c.2256G= (p.Lys752=) | |
11 | g.47337766C>G | CA380319018 | MYBPC3 | c.2337G>C (p.Lys779Asn) c.2319G>C (p.Lys773Asn) c.2256G>C (p.Lys752Asn) | |
11 | g.47337766C>T | CA474216442 | MYBPC3 | c.2337G>A (p.Lys779=) c.2319G>A (p.Lys773=) c.2256G>A (p.Lys752=) | |
11 | g.47337767T>A | CA380319022 | MYBPC3 | c.2336A>T (p.Lys779Met) c.2318A>T (p.Lys773Met) c.2255A>T (p.Lys752Met) | |
11 | g.47337767T>C | CA078653 | MYBPC3 | c.2336A>G (p.Lys779Arg) c.2318A>G (p.Lys773Arg) c.2255A>G (p.Lys752Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337767T>G | CA380319028 | MYBPC3 | c.2336A>C (p.Lys779Thr) c.2318A>C (p.Lys773Thr) c.2255A>C (p.Lys752Thr) | |
11 | g.47337767T= | CA1969331608 | MYBPC3 | c.2336A= (p.Lys779=) c.2318A= (p.Lys773=) c.2255A= (p.Lys752=) | |
11 | g.47337768T>A | CA380319032 | MYBPC3 | c.2335A>T (p.Lys779Ter) c.2317A>T (p.Lys773Ter) c.2254A>T (p.Lys752Ter) | |
11 | g.47337768T>C | CA380319034 | MYBPC3 | c.2335A>G (p.Lys779Glu) c.2317A>G (p.Lys773Glu) c.2254A>G (p.Lys752Glu) | ClinVar gnomAD v4 |
11 | g.47337768T>G | CA380319036 | MYBPC3 | c.2335A>C (p.Lys779Gln) c.2317A>C (p.Lys773Gln) c.2254A>C (p.Lys752Gln) | |
11 | g.47337768_47337769delinsTG | CA1969331609 | MYBPC3 | c.2334_2335delinsCA (p.Pro778=) c.2316_2317delinsCA (p.Pro772=) c.2253_2254delinsCA (p.Pro751=) | |
11 | g.47337769G>A | CA474216451 | MYBPC3 | c.2334C>T (p.Pro778=) c.2316C>T (p.Pro772=) c.2253C>T (p.Pro751=) | ClinVar dbSNP gnomAD v4 |
11 | g.47337769G>C | CA474216454 | MYBPC3 | c.2334C>G (p.Pro778=) c.2316C>G (p.Pro772=) c.2253C>G (p.Pro751=) | |
11 | g.47337769G= | CA1969331611 | MYBPC3 | c.2334C= (p.Pro778=) c.2316C= (p.Pro772=) c.2253C= (p.Pro751=) | |
11 | g.47337769G>T | CA474216457 | MYBPC3 | c.2334C>A (p.Pro778=) c.2316C>A (p.Pro772=) c.2253C>A (p.Pro751=) | gnomAD v4 |
11 | g.47337773dup | CA1969331610 | MYBPC3 | c.2334dup (p.Lys779GlnfsTer?) c.2334dup (p.Lys779GlnfsTer29) c.2316dup (p.Lys773GlnfsTer?) c.2253dup (p.Lys752GlnfsTer?) | ClinVar dbSNP |
11 | g.47337773del | CA16042829 | MYBPC3 | c.2334del (p.Lys779ArgfsTer?) c.2316del (p.Lys773ArgfsTer?) c.2253del (p.Lys752ArgfsTer?) | ClinVar dbSNP gnomAD v4 |
11 | g.47337771_47337773del | CA2613392572 | MYBPC3 | c.2332_2334del (p.Pro778del) c.2314_2316del (p.Pro772del) c.2251_2253del (p.Pro751del) | gnomAD v4 |
11 | g.47337770G>A | CA380319044 | MYBPC3 | c.2333C>T (p.Pro778Leu) c.2315C>T (p.Pro772Leu) c.2252C>T (p.Pro751Leu) | dbSNP gnomAD v2 |
11 | g.47337770G>C | CA380319045 | MYBPC3 | c.2333C>G (p.Pro778Arg) c.2315C>G (p.Pro772Arg) c.2252C>G (p.Pro751Arg) | |
11 | g.47337770G= | CA1969331612 | MYBPC3 | c.2333C= (p.Pro778=) c.2315C= (p.Pro772=) c.2252C= (p.Pro751=) | |
11 | g.47337770G>T | CA380319048 | MYBPC3 | c.2333C>A (p.Pro778His) c.2315C>A (p.Pro772His) c.2252C>A (p.Pro751His) | gnomAD v4 |
11 | g.47337771G>A | CA380319054 | MYBPC3 | c.2332C>T (p.Pro778Ser) c.2314C>T (p.Pro772Ser) c.2251C>T (p.Pro751Ser) | gnomAD v4 |
11 | g.47337771G>C | CA380319049 | MYBPC3 | c.2332C>G (p.Pro778Ala) c.2314C>G (p.Pro772Ala) c.2251C>G (p.Pro751Ala) | |
11 | g.47337771G>T | CA380319051 | MYBPC3 | c.2332C>A (p.Pro778Thr) c.2314C>A (p.Pro772Thr) c.2251C>A (p.Pro751Thr) | gnomAD v4 |
11 | g.47337772G>A | CA474216477 | MYBPC3 | c.2331C>T (p.Ala777=) c.2313C>T (p.Ala771=) c.2250C>T (p.Ala750=) | |
11 | g.47337772G>C | CA474216479 | MYBPC3 | c.2331C>G (p.Ala777=) c.2313C>G (p.Ala771=) c.2250C>G (p.Ala750=) | |
11 | g.47337772G>T | CA474216481 | MYBPC3 | c.2331C>A (p.Ala777=) c.2313C>A (p.Ala771=) c.2250C>A (p.Ala750=) | gnomAD v4 |
11 | g.47337773G>A | CA078651 | MYBPC3 | c.2330C>T (p.Ala777Val) c.2312C>T (p.Ala771Val) c.2249C>T (p.Ala750Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337773G>C | CA380319058 | MYBPC3 | c.2330C>G (p.Ala777Gly) c.2312C>G (p.Ala771Gly) c.2249C>G (p.Ala750Gly) | |
11 | g.47337773G= | CA1969331613 | MYBPC3 | c.2330C= (p.Ala777=) c.2312C= (p.Ala771=) c.2249C= (p.Ala750=) | |
11 | g.47337773G>T | CA380319062 | MYBPC3 | c.2330C>A (p.Ala777Asp) c.2312C>A (p.Ala771Asp) c.2249C>A (p.Ala750Asp) | gnomAD v4 |
11 | g.47337774C>A | CA380319066 | MYBPC3 | c.2329G>T (p.Ala777Ser) c.2311G>T (p.Ala771Ser) c.2248G>T (p.Ala750Ser) | gnomAD v4 |
11 | g.47337774C>G | CA380319069 | MYBPC3 | c.2329G>C (p.Ala777Pro) c.2311G>C (p.Ala771Pro) c.2248G>C (p.Ala750Pro) | gnomAD v4 |
11 | g.47337774C>T | CA380319072 | MYBPC3 | c.2329G>A (p.Ala777Thr) c.2311G>A (p.Ala771Thr) c.2248G>A (p.Ala750Thr) | dbSNP |
11 | g.47337775dup | CA2573051240 | MYBPC3 | c.2329dup (p.Ala777GlyfsTer?) c.2311dup (p.Ala771GlyfsTer?) c.2248dup (p.Ala750GlyfsTer?) | |
11 | g.47337775C>A | CA474216491 | MYBPC3 | c.2328G>T (p.Ala776=) c.2310G>T (p.Ala770=) c.2247G>T (p.Ala749=) | gnomAD v4 |
11 | g.47337775C= | CA1969331614 | MYBPC3 | c.2328G= (p.Ala776=) c.2310G= (p.Ala770=) c.2247G= (p.Ala749=) | |
11 | g.47337775C>G | CA474216493 | MYBPC3 | c.2328G>C (p.Ala776=) c.2310G>C (p.Ala770=) c.2247G>C (p.Ala749=) | |
11 | g.47337775C>T | CA474216495 | MYBPC3 | c.2328G>A (p.Ala776=) c.2310G>A (p.Ala770=) c.2247G>A (p.Ala749=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337776G>A | CA049319 | MYBPC3 | c.2327C>T (p.Ala776Val) c.2309C>T (p.Ala770Val) c.2246C>T (p.Ala749Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337776G>C | CA380319085 | MYBPC3 | c.2327C>G (p.Ala776Gly) c.2309C>G (p.Ala770Gly) c.2246C>G (p.Ala749Gly) | |
11 | g.47337776G= | CA1969331615 | MYBPC3 | c.2327C= (p.Ala776=) c.2309C= (p.Ala770=) c.2246C= (p.Ala749=) | |
11 | g.47337776G>T | CA380319089 | MYBPC3 | c.2327C>A (p.Ala776Glu) c.2309C>A (p.Ala770Glu) c.2246C>A (p.Ala749Glu) | gnomAD v4 |
11 | g.47337777C>A | CA380319093 | MYBPC3 | c.2326G>T (p.Ala776Ser) c.2308G>T (p.Ala770Ser) c.2245G>T (p.Ala749Ser) | gnomAD v4 |
11 | g.47337777C= | CA1969331616 | MYBPC3 | c.2326G= (p.Ala776=) c.2308G= (p.Ala770=) c.2245G= (p.Ala749=) | |
11 | g.47337777C>G | CA380319095 | MYBPC3 | c.2326G>C (p.Ala776Pro) c.2308G>C (p.Ala770Pro) c.2245G>C (p.Ala749Pro) | |
11 | g.47337777C>T | CA380319099 | MYBPC3 | c.2326G>A (p.Ala776Thr) c.2308G>A (p.Ala770Thr) c.2245G>A (p.Ala749Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47337778A>C | CA474216506 | MYBPC3 | c.2325T>G (p.Pro775=) c.2307T>G (p.Pro769=) c.2244T>G (p.Pro748=) | |
11 | g.47337778A>G | CA474216510 | MYBPC3 | c.2325T>C (p.Pro775=) c.2307T>C (p.Pro769=) c.2244T>C (p.Pro748=) | gnomAD v4 |
11 | g.47337778A>T | CA474216508 | MYBPC3 | c.2325T>A (p.Pro775=) c.2307T>A (p.Pro769=) c.2244T>A (p.Pro748=) | gnomAD v4 |
11 | g.47337779G>A | CA380319110 | MYBPC3 | c.2324C>T (p.Pro775Leu) c.2306C>T (p.Pro769Leu) c.2243C>T (p.Pro748Leu) | gnomAD v4 |
11 | g.47337779G>C | CA012122 | MYBPC3 | c.2324C>G (p.Pro775Arg) c.2306C>G (p.Pro769Arg) c.2243C>G (p.Pro748Arg) | ClinVar dbSNP gnomAD v4 |
11 | g.47337779G= | CA1969331617 | MYBPC3 | c.2324C= (p.Pro775=) c.2306C= (p.Pro769=) c.2243C= (p.Pro748=) | |
11 | g.47337779G>T | CA380319105 | MYBPC3 | c.2324C>A (p.Pro775His) c.2306C>A (p.Pro769His) c.2243C>A (p.Pro748His) | gnomAD v4 |
11 | g.47337780G>A | CA380319115 | MYBPC3 | c.2323C>T (p.Pro775Ser) c.2305C>T (p.Pro769Ser) c.2242C>T (p.Pro748Ser) | gnomAD v4 |
11 | g.47337780G>C | CA380319122 | MYBPC3 | c.2323C>G (p.Pro775Ala) c.2305C>G (p.Pro769Ala) c.2242C>G (p.Pro748Ala) | |
11 | g.47337780G>T | CA380319118 | MYBPC3 | c.2323C>A (p.Pro775Thr) c.2305C>A (p.Pro769Thr) c.2242C>A (p.Pro748Thr) | gnomAD v4 |
11 | g.47337781T>A | CA474216515 | MYBPC3 | c.2322A>T (p.Ala774=) c.2304A>T (p.Ala768=) c.2241A>T (p.Ala747=) | |
11 | g.47337781T>C | CA474216517 | MYBPC3 | c.2322A>G (p.Ala774=) c.2304A>G (p.Ala768=) c.2241A>G (p.Ala747=) | gnomAD v4 |
11 | g.47337781T>G | CA474216519 | MYBPC3 | c.2322A>C (p.Ala774=) c.2304A>C (p.Ala768=) c.2241A>C (p.Ala747=) | |
11 | g.47337782G>A | CA380319125 | MYBPC3 | c.2321C>T (p.Ala774Val) c.2303C>T (p.Ala768Val) c.2240C>T (p.Ala747Val) | ClinVar dbSNP gnomAD v4 |
11 | g.47337782G>C | CA380319128 | MYBPC3 | c.2321C>G (p.Ala774Gly) c.2303C>G (p.Ala768Gly) c.2240C>G (p.Ala747Gly) | |
11 | g.47337782G= | CA1969331618 | MYBPC3 | c.2321C= (p.Ala774=) c.2303C= (p.Ala768=) c.2240C= (p.Ala747=) | |
11 | g.47337782G>T | CA380319130 | MYBPC3 | c.2321C>A (p.Ala774Glu) c.2303C>A (p.Ala768Glu) c.2240C>A (p.Ala747Glu) | gnomAD v4 |
11 | g.47337783C>A | CA380319134 | MYBPC3 | c.2320G>T (p.Ala774Ser) c.2302G>T (p.Ala768Ser) c.2239G>T (p.Ala747Ser) | |
11 | g.47337783C= | CA1969331619 | MYBPC3 | c.2320G= (p.Ala774=) c.2302G= (p.Ala768=) c.2239G= (p.Ala747=) | |
11 | g.47337783C>G | CA380319139 | MYBPC3 | c.2320G>C (p.Ala774Pro) c.2302G>C (p.Ala768Pro) c.2239G>C (p.Ala747Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47337783C>T | CA012113 | MYBPC3 | c.2320G>A (p.Ala774Thr) c.2302G>A (p.Ala768Thr) c.2239G>A (p.Ala747Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337784G>A | CA012107 | MYBPC3 | c.2319C>T (p.Asp773=) c.2301C>T (p.Asp767=) c.2238C>T (p.Asp746=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337784G>C | CA380319148 | MYBPC3 | c.2319C>G (p.Asp773Glu) c.2301C>G (p.Asp767Glu) c.2238C>G (p.Asp746Glu) | |
11 | g.47337784G= | CA1969331620 | MYBPC3 | c.2319C= (p.Asp773=) c.2301C= (p.Asp767=) c.2238C= (p.Asp746=) | |
11 | g.47337784G>T | CA380319163 | MYBPC3 | c.2319C>A (p.Asp773Glu) c.2301C>A (p.Asp767Glu) c.2238C>A (p.Asp746Glu) | |
11 | g.47337785T>A | CA380319168 | MYBPC3 | c.2318A>T (p.Asp773Val) c.2300A>T (p.Asp767Val) c.2237A>T (p.Asp746Val) | ClinVar dbSNP |
11 | g.47337785T>C | CA380319170 | MYBPC3 | c.2318A>G (p.Asp773Gly) c.2300A>G (p.Asp767Gly) c.2237A>G (p.Asp746Gly) | gnomAD v4 |
11 | g.47337785T>G | CA380319173 | MYBPC3 | c.2318A>C (p.Asp773Ala) c.2300A>C (p.Asp767Ala) c.2237A>C (p.Asp746Ala) | |
11 | g.47337786C>A | CA380319178 | MYBPC3 | c.2317G>T (p.Asp773Tyr) c.2299G>T (p.Asp767Tyr) c.2236G>T (p.Asp746Tyr) | gnomAD v4 |
11 | g.47337786C= | CA1969331621 | MYBPC3 | c.2317G= (p.Asp773=) c.2299G= (p.Asp767=) c.2236G= (p.Asp746=) | |
11 | g.47337786C>G | CA380319183 | MYBPC3 | c.2317G>C (p.Asp773His) c.2299G>C (p.Asp767His) c.2236G>C (p.Asp746His) | |
11 | g.47337786C>T | CA049293 | MYBPC3 | c.2317G>A (p.Asp773Asn) c.2299G>A (p.Asp767Asn) c.2236G>A (p.Asp746Asn) | dbSNP gnomAD v2 |
11 | g.47337787T>A | CA474216546 | MYBPC3 | c.2316A>T (p.Pro772=) c.2298A>T (p.Pro766=) c.2235A>T (p.Pro745=) | |
11 | g.47337787T>C | CA474216547 | MYBPC3 | c.2316A>G (p.Pro772=) c.2298A>G (p.Pro766=) c.2235A>G (p.Pro745=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47337787T>G | CA474216550 | MYBPC3 | c.2316A>C (p.Pro772=) c.2298A>C (p.Pro766=) c.2235A>C (p.Pro745=) | |
11 | g.47337787T= | CA1969331622 | MYBPC3 | c.2316A= (p.Pro772=) c.2298A= (p.Pro766=) c.2235A= (p.Pro745=) | |
11 | g.47337788G>A | CA380319188 | MYBPC3 | c.2315C>T (p.Pro772Leu) c.2297C>T (p.Pro766Leu) c.2234C>T (p.Pro745Leu) | |
11 | g.47337788G>C | CA380319191 | MYBPC3 | c.2315C>G (p.Pro772Arg) c.2297C>G (p.Pro766Arg) c.2234C>G (p.Pro745Arg) | gnomAD v4 |
11 | g.47337788G>T | CA380319194 | MYBPC3 | c.2315C>A (p.Pro772Gln) c.2297C>A (p.Pro766Gln) c.2234C>A (p.Pro745Gln) | |
11 | g.47337789del | CA2840399612 | MYBPC3 | c.2315del (p.Pro772GlnfsTer?) c.2297del (p.Pro766GlnfsTer?) c.2234del (p.Pro745GlnfsTer?) | |
11 | g.47337789G>A | CA380319199 | MYBPC3 | c.2314C>T (p.Pro772Ser) c.2296C>T (p.Pro766Ser) c.2233C>T (p.Pro745Ser) | gnomAD v4 |
11 | g.47337789G>C | CA380319200 | MYBPC3 | c.2314C>G (p.Pro772Ala) c.2296C>G (p.Pro766Ala) c.2233C>G (p.Pro745Ala) | dbSNP |
11 | g.47337789G= | CA1969331623 | MYBPC3 | c.2314C= (p.Pro772=) c.2296C= (p.Pro766=) c.2233C= (p.Pro745=) | |
11 | g.47337789G>T | CA380319204 | MYBPC3 | c.2314C>A (p.Pro772Thr) c.2296C>A (p.Pro766Thr) c.2233C>A (p.Pro745Thr) | |
11 | g.47337789_47337794del | CA2739291463 | MYBPC3 | c.2309_2314del (p.Asp770_Pro772delinsAla) c.2291_2296del (p.Asp764_Pro766delinsAla) c.2228_2233del (p.Asp743_Pro745delinsAla) | |
11 | g.47337790C>A | CA474216561 | MYBPC3 | c.2313G>T (p.Val771=) c.2295G>T (p.Val765=) c.2232G>T (p.Val744=) | gnomAD v4 |
11 | g.47337790C= | CA1969331624 | MYBPC3 | c.2313G= (p.Val771=) c.2295G= (p.Val765=) c.2232G= (p.Val744=) | |
11 | g.47337790C>G | CA474216563 | MYBPC3 | c.2313G>C (p.Val771=) c.2295G>C (p.Val765=) c.2232G>C (p.Val744=) | |
11 | g.47337790C>T | CA474216565 | MYBPC3 | c.2313G>A (p.Val771=) c.2295G>A (p.Val765=) c.2232G>A (p.Val744=) | dbSNP gnomAD v4 |
11 | g.47337791A= | CA1969331625 | MYBPC3 | c.2312T= (p.Val771=) c.2294T= (p.Val765=) c.2231T= (p.Val744=) | |
11 | g.47337791A>C | CA380319210 | MYBPC3 | c.2312T>G (p.Val771Gly) c.2294T>G (p.Val765Gly) c.2231T>G (p.Val744Gly) | |
11 | g.47337791A>G | CA012096 | MYBPC3 | c.2312T>C (p.Val771Ala) c.2294T>C (p.Val765Ala) c.2231T>C (p.Val744Ala) | ClinVar dbSNP |
11 | g.47337791A>T | CA380319215 | MYBPC3 | c.2312T>A (p.Val771Glu) c.2294T>A (p.Val765Glu) c.2231T>A (p.Val744Glu) | |
11 | g.47337792C>A | CA380319231 | MYBPC3 | c.2311G>T (p.Val771Leu) c.2293G>T (p.Val765Leu) c.2230G>T (p.Val744Leu) | gnomAD v4 |
11 | g.47337792C= | CA1969331627 | MYBPC3 | c.2311G= (p.Val771=) c.2293G= (p.Val765=) c.2230G= (p.Val744=) | |
11 | g.47337792C>G | CA380319225 | MYBPC3 | c.2311G>C (p.Val771Leu) c.2293G>C (p.Val765Leu) c.2230G>C (p.Val744Leu) | gnomAD v4 |
11 | g.47337792C>T | CA012087 | MYBPC3 | c.2311G>A (p.Val771Met) c.2293G>A (p.Val765Met) c.2230G>A (p.Val744Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337792dup | CA012076 | MYBPC3 | c.2311dup (p.Val771GlyfsTer?) c.2293dup (p.Val765GlyfsTer?) c.2230dup (p.Val744GlyfsTer?) | ClinVar dbSNP |
11 | g.47337792_47337793delinsCG | CA1969331626 | MYBPC3 | c.2310_2311delinsCG (p.Asp770=) c.2292_2293delinsCG (p.Asp764=) c.2229_2230delinsCG (p.Asp743=) | |
11 | g.47337793del | CA658797627 | MYBPC3 | c.2310del (p.Asp770GlufsTer?) c.2292del (p.Asp764GlufsTer?) c.2229del (p.Asp743GlufsTer?) | ClinVar dbSNP |
11 | g.47337793G>A | CA012068 | MYBPC3 | c.2310C>T (p.Asp770=) c.2292C>T (p.Asp764=) c.2229C>T (p.Asp743=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337793G>C | CA380319237 | MYBPC3 | c.2310C>G (p.Asp770Glu) c.2292C>G (p.Asp764Glu) c.2229C>G (p.Asp743Glu) | gnomAD v4 |
11 | g.47337793G= | CA1969331628 | MYBPC3 | c.2310C= (p.Asp770=) c.2292C= (p.Asp764=) c.2229C= (p.Asp743=) | |
11 | g.47337793G>T | CA221689026 | MYBPC3 | c.2310C>A (p.Asp770Glu) c.2292C>A (p.Asp764Glu) c.2229C>A (p.Asp743Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47337794T>A | CA380319243 | MYBPC3 | c.2309A>T (p.Asp770Val) c.2291A>T (p.Asp764Val) c.2228A>T (p.Asp743Val) | |
11 | g.47337794T>C | CA380319246 | MYBPC3 | c.2309A>G (p.Asp770Gly) c.2291A>G (p.Asp764Gly) c.2228A>G (p.Asp743Gly) | |
11 | g.47337794T>G | CA380319248 | MYBPC3 | c.2309A>C (p.Asp770Ala) c.2291A>C (p.Asp764Ala) c.2228A>C (p.Asp743Ala) | gnomAD v4 |
11 | g.47337795_47337796dup | CA2739291464 | MYBPC3 | c.2309-1_2309dup c.2291-1_2291dup c.2228-1_2228dup | |
11 | g.47337795_47338523dup | CA916081643 | MYBPC3 | c.2306_2309dup c.2288_2291dup c.2225_2228dup | |
11 | g.47337795C>A | CA380319253 | MYBPC3 | c.2309-1G>T (n.2309-1G>T) c.2291-1G>T (n.2291-1G>T) c.2228-1G>T (n.2228-1G>T) | gnomAD v4 |
11 | g.47337795C= | CA1969331629 | MYBPC3 | c.2309-1G= (n.2309-1G=) c.2291-1G= (n.2291-1G=) c.2228-1G= (n.2228-1G=) | |
11 | g.47337795C>G | CA380319255 | MYBPC3 | c.2309-1G>C (n.2309-1G>C) c.2291-1G>C (n.2291-1G>C) c.2228-1G>C (n.2228-1G>C) | |
11 | g.47337795C>T | CA380319259 | MYBPC3 | c.2309-1G>A (n.2309-1G>A) c.2291-1G>A (n.2291-1G>A) c.2228-1G>A (n.2228-1G>A) | dbSNP gnomAD v4 |
11 | g.47337796T>A | CA380319263 | MYBPC3 | c.2309-2A>T (n.2309-2A>T) c.2291-2A>T (n.2291-2A>T) c.2228-2A>T (n.2228-2A>T) | dbSNP |
11 | g.47337796T>C | CA012043 | MYBPC3 | c.2309-2A>G (n.2309-2A>G) c.2291-2A>G (n.2291-2A>G) c.2228-2A>G (n.2228-2A>G) | ClinVar dbSNP gnomAD v4 |
11 | g.47337796T>G | CA221689041 | MYBPC3 | c.2309-2A>C (n.2309-2A>C) c.2291-2A>C (n.2291-2A>C) c.2228-2A>C (n.2228-2A>C) | dbSNP |
11 | g.47337796T= | CA1969331630 | MYBPC3 | c.2309-2A= (n.2309-2A=) c.2291-2A= (n.2291-2A=) c.2228-2A= (n.2228-2A=) | |
11 | g.47337797G>C | CA915940854 | MYBPC3 | c.2309-3C>G (n.2309-3C>G) c.2291-3C>G (n.2291-3C>G) c.2228-3C>G (n.2228-3C>G) | |
11 | g.47337797G>T | CA2840399613 | MYBPC3 | c.2309-3C>A (n.2309-3C>A) c.2291-3C>A (n.2291-3C>A) c.2228-3C>A (n.2228-3C>A) | |
11 | g.47337798G>A | CA221689056 | MYBPC3 | c.2309-4C>T (n.2309-4C>T) c.2291-4C>T (n.2291-4C>T) c.2228-4C>T (n.2228-4C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337798G= | CA1969331631 | MYBPC3 | c.2309-4C= (n.2309-4C=) c.2291-4C= (n.2291-4C=) c.2228-4C= (n.2228-4C=) | |
11 | g.47337798G>T | CA2613392583 | MYBPC3 | c.2309-4C>A (n.2309-4C>A) c.2291-4C>A (n.2291-4C>A) c.2228-4C>A (n.2228-4C>A) | gnomAD v4 |