Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.47337692A>CCA380318583MYBPC3c.2411T>G (p.Leu804Arg)
c.2393T>G (p.Leu798Arg)
c.2330T>G (p.Leu777Arg)
11g.47337692A>GCA380318584MYBPC3c.2411T>C (p.Leu804Pro)
c.2393T>C (p.Leu798Pro)
c.2330T>C (p.Leu777Pro)
 ClinVar gnomAD v4
11g.47337692A>TCA380318586MYBPC3c.2411T>A (p.Leu804Gln)
c.2393T>A (p.Leu798Gln)
c.2330T>A (p.Leu777Gln)
 gnomAD v4
11g.47337693G>ACA474429376MYBPC3c.2410C>T (p.Leu804=)
c.2392C>T (p.Leu798=)
c.2329C>T (p.Leu777=)
11g.47337693G>CCA380318588MYBPC3c.2410C>G (p.Leu804Val)
c.2392C>G (p.Leu798Val)
c.2329C>G (p.Leu777Val)
11g.47337693G=CA1969331564MYBPC3c.2410C= (p.Leu804=)
c.2392C= (p.Leu798=)
c.2329C= (p.Leu777=)
11g.47337693G>TCA221688879MYBPC3c.2410C>A (p.Leu804Met)
c.2392C>A (p.Leu798Met)
c.2329C>A (p.Leu777Met)
 dbSNP gnomAD v4
11g.47337694G>ACA474429377MYBPC3c.2409C>T (p.Ile803=)
c.2391C>T (p.Ile797=)
c.2328C>T (p.Ile776=)
 gnomAD v4
11g.47337694G>CCA380318590MYBPC3c.2409C>G (p.Ile803Met)
c.2391C>G (p.Ile797Met)
c.2328C>G (p.Ile776Met)
 ClinVar dbSNP gnomAD v4
11g.47337694G=CA1969331565MYBPC3c.2409C= (p.Ile803=)
c.2391C= (p.Ile797=)
c.2328C= (p.Ile776=)
11g.47337694G>TCA078685MYBPC3c.2409C>A (p.Ile803=)
c.2391C>A (p.Ile797=)
c.2328C>A (p.Ile776=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337695A=CA1969331566MYBPC3c.2408T= (p.Ile803=)
c.2390T= (p.Ile797=)
c.2327T= (p.Ile776=)
11g.47337695A>CCA380318591MYBPC3c.2408T>G (p.Ile803Ser)
c.2390T>G (p.Ile797Ser)
c.2327T>G (p.Ile776Ser)
11g.47337695A>GCA380318593MYBPC3c.2408T>C (p.Ile803Thr)
c.2390T>C (p.Ile797Thr)
c.2327T>C (p.Ile776Thr)
11g.47337695A>TCA380318594MYBPC3c.2408T>A (p.Ile803Asn)
c.2390T>A (p.Ile797Asn)
c.2327T>A (p.Ile776Asn)
 ClinVar dbSNP
11g.47337696T>ACA380318596MYBPC3c.2407A>T (p.Ile803Phe)
c.2389A>T (p.Ile797Phe)
c.2326A>T (p.Ile776Phe)
11g.47337696T>CCA380318598MYBPC3c.2407A>G (p.Ile803Val)
c.2389A>G (p.Ile797Val)
c.2326A>G (p.Ile776Val)
 gnomAD v4
11g.47337696T>GCA380318600MYBPC3c.2407A>C (p.Ile803Leu)
c.2389A>C (p.Ile797Leu)
c.2326A>C (p.Ile776Leu)
11g.47337697G>ACA474429378MYBPC3c.2406C>T (p.Pro802=)
c.2388C>T (p.Pro796=)
c.2325C>T (p.Pro775=)
 ClinVar
11g.47337697G>CCA474429379MYBPC3c.2406C>G (p.Pro802=)
c.2388C>G (p.Pro796=)
c.2325C>G (p.Pro775=)
11g.47337697G>TCA049578MYBPC3c.2406C>A (p.Pro802=)
c.2388C>A (p.Pro796=)
c.2325C>A (p.Pro775=)
 gnomAD v4
11g.47337699delCA2574816033MYBPC3c.2406del (p.Ile803SerfsTer19)
c.2406del (p.Ile803SerfsTer?)
c.2388del (p.Ile797SerfsTer19)
c.2325del (p.Ile776SerfsTer19)
11g.47337698G>ACA380318602MYBPC3c.2405C>T (p.Pro802Leu)
c.2387C>T (p.Pro796Leu)
c.2324C>T (p.Pro775Leu)
11g.47337698G>CCA380318606MYBPC3c.2405C>G (p.Pro802Arg)
c.2387C>G (p.Pro796Arg)
c.2324C>G (p.Pro775Arg)
11g.47337698G>TCA380318604MYBPC3c.2405C>A (p.Pro802His)
c.2387C>A (p.Pro796His)
c.2324C>A (p.Pro775His)
11g.47337698_47337699insCTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCA049813MYBPC3c.2404_2405insGGGATACTCAGCCGCATTTTACAGATGAGGAAACAGGCTCCAAGCAG (p.Pro802ArgfsTer36)
c.2404_2405insGGGATACTCAGCCGCATTTTACAGATGAGGAAACAGGCTCCAAGCAG (p.Pro802ArgfsTer?)
c.2386_2387insGGGATACTCAGCCGCATTTTACAGATGAGGAAACAGGCTCCAAGCAG (p.Pro796ArgfsTer36)
c.2323_2324insGGGATACTCAGCCGCATTTTACAGATGAGGAAACAGGCTCCAAGCAG (p.Pro775ArgfsTer36)
11g.47337699G>ACA380318608MYBPC3c.2404C>T (p.Pro802Ser)
c.2386C>T (p.Pro796Ser)
c.2323C>T (p.Pro775Ser)
 gnomAD v4
11g.47337699G>CCA380318611MYBPC3c.2404C>G (p.Pro802Ala)
c.2386C>G (p.Pro796Ala)
c.2323C>G (p.Pro775Ala)
11g.47337699G=CA1969331567MYBPC3c.2404C= (p.Pro802=)
c.2386C= (p.Pro796=)
c.2323C= (p.Pro775=)
11g.47337699G>TCA380318610MYBPC3c.2404C>A (p.Pro802Thr)
c.2386C>A (p.Pro796Thr)
c.2323C>A (p.Pro775Thr)
 ClinVar dbSNP gnomAD v2
11g.47337700C>ACA380318613MYBPC3c.2403G>T (p.Gln801His)
c.2385G>T (p.Gln795His)
c.2322G>T (p.Gln774His)
 gnomAD v4
11g.47337700C=CA1969331568MYBPC3c.2403G= (p.Gln801=)
c.2385G= (p.Gln795=)
c.2322G= (p.Gln774=)
11g.47337700C>GCA380318614MYBPC3c.2403G>C (p.Gln801His)
c.2385G>C (p.Gln795His)
c.2322G>C (p.Gln774His)
 dbSNP
11g.47337700C>TCA474429380MYBPC3c.2403G>A (p.Gln801=)
c.2385G>A (p.Gln795=)
c.2322G>A (p.Gln774=)
 gnomAD v4
11g.47337701T>ACA380318616MYBPC3c.2402A>T (p.Gln801Leu)
c.2384A>T (p.Gln795Leu)
c.2321A>T (p.Gln774Leu)
11g.47337701T>CCA380318619MYBPC3c.2402A>G (p.Gln801Arg)
c.2384A>G (p.Gln795Arg)
c.2321A>G (p.Gln774Arg)
 dbSNP gnomAD v2
11g.47337701T>GCA380318617MYBPC3c.2402A>C (p.Gln801Pro)
c.2384A>C (p.Gln795Pro)
c.2321A>C (p.Gln774Pro)
11g.47337701T=CA1969331569MYBPC3c.2402A= (p.Gln801=)
c.2384A= (p.Gln795=)
c.2321A= (p.Gln774=)
11g.47337702G>ACA380318621MYBPC3c.2401C>T (p.Gln801Ter)
c.2383C>T (p.Gln795Ter)
c.2320C>T (p.Gln774Ter)
11g.47337702G>CCA380318625MYBPC3c.2401C>G (p.Gln801Glu)
c.2383C>G (p.Gln795Glu)
c.2320C>G (p.Gln774Glu)
 gnomAD v4
11g.47337702G>TCA380318623MYBPC3c.2401C>A (p.Gln801Lys)
c.2383C>A (p.Gln795Lys)
c.2320C>A (p.Gln774Lys)
11g.47337703C>ACA474429381MYBPC3c.2400G>T (p.Gly800=)
c.2382G>T (p.Gly794=)
c.2319G>T (p.Gly773=)
11g.47337703C>GCA474429382MYBPC3c.2400G>C (p.Gly800=)
c.2382G>C (p.Gly794=)
c.2319G>C (p.Gly773=)
 gnomAD v4
11g.47337703C>TCA474429383MYBPC3c.2400G>A (p.Gly800=)
c.2382G>A (p.Gly794=)
c.2319G>A (p.Gly773=)
11g.47337704C>ACA380318627MYBPC3c.2399G>T (p.Gly800Val)
c.2381G>T (p.Gly794Val)
c.2318G>T (p.Gly773Val)
 ClinVar dbSNP gnomAD v4
11g.47337704C=CA1969331570MYBPC3c.2399G= (p.Gly800=)
c.2381G= (p.Gly794=)
c.2318G= (p.Gly773=)
11g.47337704C>GCA380318629MYBPC3c.2399G>C (p.Gly800Ala)
c.2381G>C (p.Gly794Ala)
c.2318G>C (p.Gly773Ala)
11g.47337704C>TCA380318631MYBPC3c.2399G>A (p.Gly800Glu)
c.2381G>A (p.Gly794Glu)
c.2318G>A (p.Gly773Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47337705C>ACA380318633MYBPC3c.2398G>T (p.Gly800Trp)
c.2380G>T (p.Gly794Trp)
c.2317G>T (p.Gly773Trp)
 gnomAD v4
11g.47337705C=CA1969331571MYBPC3c.2398G= (p.Gly800=)
c.2380G= (p.Gly794=)
c.2317G= (p.Gly773=)

Number of alleles fetched