Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47337696T>A | CA380318596 | MYBPC3 | c.2407A>T (p.Ile803Phe) c.2389A>T (p.Ile797Phe) c.2326A>T (p.Ile776Phe) | |
11 | g.47337696T>C | CA380318598 | MYBPC3 | c.2407A>G (p.Ile803Val) c.2389A>G (p.Ile797Val) c.2326A>G (p.Ile776Val) | gnomAD v4 |
11 | g.47337696T>G | CA380318600 | MYBPC3 | c.2407A>C (p.Ile803Leu) c.2389A>C (p.Ile797Leu) c.2326A>C (p.Ile776Leu) | |
11 | g.47337697G>A | CA474429378 | MYBPC3 | c.2406C>T (p.Pro802=) c.2388C>T (p.Pro796=) c.2325C>T (p.Pro775=) | ClinVar |
11 | g.47337697G>C | CA474429379 | MYBPC3 | c.2406C>G (p.Pro802=) c.2388C>G (p.Pro796=) c.2325C>G (p.Pro775=) | |
11 | g.47337697G>T | CA049578 | MYBPC3 | c.2406C>A (p.Pro802=) c.2388C>A (p.Pro796=) c.2325C>A (p.Pro775=) | gnomAD v4 |
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.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=) |