Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.47337795_47338523dupCA916081643MYBPC3c.2306_2309dup
c.2288_2291dup
c.2225_2228dup
11g.47338502_47338530delCA2580084155MYBPC3c.2302_2308+22del
c.2284_2290+22del
c.2221_2227+22del
 ClinVar
11g.47338516_47338537delinsTCACCGATGACCTTGACTGTGACA1969332144MYBPC3c.2291_2308+4delinsTCACAGTCAAGGTCATCGGTGA
c.2273_2290+4delinsTCACAGTCAAGGTCATCGGTGA
c.2210_2227+4delinsTCACAGTCAAGGTCATCGGTGA
11g.47338517_47338524delinsCACCGATGCA1969332157MYBPC3c.2304_2308+3delinsCATCGGTG
c.2286_2290+3delinsCATCGGTG
c.2223_2227+3delinsCATCGGTG
11g.47338517_47338537delCA1969332149MYBPC3c.2291_2308+3del
c.2273_2290+3del
c.2210_2227+3del
 ClinVar dbSNP
11g.47338521_47338527delCA676996046MYBPC3c.2304_2308+2del
c.2286_2290+2del
c.2223_2227+2del
 dbSNP gnomAD v4
11g.47338519C>ACA012008MYBPC3c.2308+1G>T (n.2308+1G>T)
c.2290+1G>T (n.2290+1G>T)
c.2227+1G>T (n.2227+1G>T)
 ClinVar dbSNP gnomAD v4
11g.47338519C=CA1969332171MYBPC3c.2308+1G= (n.2308+1G=)
c.2290+1G= (n.2290+1G=)
c.2227+1G= (n.2227+1G=)
11g.47338519C>GCA221689791MYBPC3c.2308+1G>C (n.2308+1G>C)
c.2290+1G>C (n.2290+1G>C)
c.2227+1G>C (n.2227+1G>C)
 dbSNP
11g.47338519C>TCA011996MYBPC3c.2308+1G>A (n.2308+1G>A)
c.2290+1G>A (n.2290+1G>A)
c.2227+1G>A (n.2227+1G>A)
 ClinVar dbSNP
11g.47338520C>ACA380320135MYBPC3c.2308G>T (p.Asp770Tyr)
c.2290G>T (p.Asp764Tyr)
c.2227G>T (p.Asp743Tyr)
11g.47338520C=CA1969332182MYBPC3c.2308G= (p.Asp770=)
c.2290G= (p.Asp764=)
c.2227G= (p.Asp743=)
11g.47338520C>GCA16613585MYBPC3c.2308G>C (p.Asp770His)
c.2290G>C (p.Asp764His)
c.2227G>C (p.Asp743His)
 ClinVar dbSNP
11g.47338520C>TCA012015MYBPC3c.2308G>A (p.Asp770Asn)
c.2290G>A (p.Asp764Asn)
c.2227G>A (p.Asp743Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47338520_47338523dupCA891842474MYBPC3c.2305_2308dup (p.Val771ArgfsTer?)
c.2287_2290dup (p.Val765ArgfsTer?)
c.2224_2227dup (p.Val744ArgfsTer?)
 ClinVar dbSNP
11g.47338521G>ACA078624MYBPC3c.2307C>T (p.Ile769=)
c.2289C>T (p.Ile763=)
c.2226C>T (p.Ile742=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47338521G>CCA380320136MYBPC3c.2307C>G (p.Ile769Met)
c.2289C>G (p.Ile763Met)
c.2226C>G (p.Ile742Met)
11g.47338521G=CA1969332187MYBPC3c.2307C= (p.Ile769=)
c.2289C= (p.Ile763=)
c.2226C= (p.Ile742=)
11g.47338521G>TCA474216951MYBPC3c.2307C>A (p.Ile769=)
c.2289C>A (p.Ile763=)
c.2226C>A (p.Ile742=)
 gnomAD v4
11g.47338522delCA2573131739MYBPC3c.2306del (p.Ile769ThrfsTer?)
c.2288del (p.Ile763ThrfsTer?)
c.2225del (p.Ile742ThrfsTer?)
11g.47338522A>CCA380320137MYBPC3c.2306T>G (p.Ile769Ser)
c.2288T>G (p.Ile763Ser)
c.2225T>G (p.Ile742Ser)
11g.47338522A>GCA380320138MYBPC3c.2306T>C (p.Ile769Thr)
c.2288T>C (p.Ile763Thr)
c.2225T>C (p.Ile742Thr)
11g.47338522A>TCA380320139MYBPC3c.2306T>A (p.Ile769Asn)
c.2288T>A (p.Ile763Asn)
c.2225T>A (p.Ile742Asn)
11g.47338523T>ACA380320140MYBPC3c.2305A>T (p.Ile769Phe)
c.2287A>T (p.Ile763Phe)
c.2224A>T (p.Ile742Phe)
11g.47338523T>CCA380320141MYBPC3c.2305A>G (p.Ile769Val)
c.2287A>G (p.Ile763Val)
c.2224A>G (p.Ile742Val)
11g.47338523T>GCA380320142MYBPC3c.2305A>C (p.Ile769Leu)
c.2287A>C (p.Ile763Leu)
c.2224A>C (p.Ile742Leu)
11g.47338524G>ACA049095MYBPC3c.2304C>T (p.Val768=)
c.2286C>T (p.Val762=)
c.2223C>T (p.Val741=)
 dbSNP gnomAD v2 gnomAD v4
11g.47338524G>CCA474216953MYBPC3c.2304C>G (p.Val768=)
c.2286C>G (p.Val762=)
c.2223C>G (p.Val741=)
11g.47338524G=CA1969332190MYBPC3c.2304C= (p.Val768=)
c.2286C= (p.Val762=)
c.2223C= (p.Val741=)
11g.47338524G>TCA474216954MYBPC3c.2304C>A (p.Val768=)
c.2286C>A (p.Val762=)
c.2223C>A (p.Val741=)
11g.47338525A>CCA380320143MYBPC3c.2303T>G (p.Val768Gly)
c.2285T>G (p.Val762Gly)
c.2222T>G (p.Val741Gly)
11g.47338525A>GCA380320144MYBPC3c.2303T>C (p.Val768Ala)
c.2285T>C (p.Val762Ala)
c.2222T>C (p.Val741Ala)
11g.47338525A>TCA380320145MYBPC3c.2303T>A (p.Val768Asp)
c.2285T>A (p.Val762Asp)
c.2222T>A (p.Val741Asp)
11g.47338526C>ACA380320146MYBPC3c.2302G>T (p.Val768Phe)
c.2284G>T (p.Val762Phe)
c.2221G>T (p.Val741Phe)
11g.47338526C>GCA380320148MYBPC3c.2302G>C (p.Val768Leu)
c.2284G>C (p.Val762Leu)
c.2221G>C (p.Val741Leu)
11g.47338526C>TCA380320147MYBPC3c.2302G>A (p.Val768Ile)
c.2284G>A (p.Val762Ile)
c.2221G>A (p.Val741Ile)
11g.47338527C>ACA380320149MYBPC3c.2301G>T (p.Lys767Asn)
c.2283G>T (p.Lys761Asn)
c.2220G>T (p.Lys740Asn)
11g.47338527C=CA1969332193MYBPC3c.2301G= (p.Lys767=)
c.2283G= (p.Lys761=)
c.2220G= (p.Lys740=)
11g.47338527C>GCA380320150MYBPC3c.2301G>C (p.Lys767Asn)
c.2283G>C (p.Lys761Asn)
c.2220G>C (p.Lys740Asn)
 dbSNP gnomAD v3 gnomAD v4
11g.47338527C>TCA474216957MYBPC3c.2301G>A (p.Lys767=)
c.2283G>A (p.Lys761=)
c.2220G>A (p.Lys740=)
11g.47338528T>ACA380320151MYBPC3c.2300A>T (p.Lys767Met)
c.2282A>T (p.Lys761Met)
c.2219A>T (p.Lys740Met)
11g.47338528T>CCA078622MYBPC3c.2300A>G (p.Lys767Arg)
c.2282A>G (p.Lys761Arg)
c.2219A>G (p.Lys740Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47338528T>GCA380320152MYBPC3c.2300A>C (p.Lys767Thr)
c.2282A>C (p.Lys761Thr)
c.2219A>C (p.Lys740Thr)
11g.47338528T=CA1969332199MYBPC3c.2300A= (p.Lys767=)
c.2282A= (p.Lys761=)
c.2219A= (p.Lys740=)
11g.47338529T>ACA380320153MYBPC3c.2299A>T (p.Lys767Ter)
c.2281A>T (p.Lys761Ter)
c.2218A>T (p.Lys740Ter)
11g.47338529T>CCA380320154MYBPC3c.2299A>G (p.Lys767Glu)
c.2281A>G (p.Lys761Glu)
c.2218A>G (p.Lys740Glu)
 gnomAD v4
11g.47338529T>GCA380320155MYBPC3c.2299A>C (p.Lys767Gln)
c.2281A>C (p.Lys761Gln)
c.2218A>C (p.Lys740Gln)
11g.47338530G>ACA474216958MYBPC3c.2298C>T (p.Val766=)
c.2280C>T (p.Val760=)
c.2217C>T (p.Val739=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47338530G>CCA474216959MYBPC3c.2298C>G (p.Val766=)
c.2280C>G (p.Val760=)
c.2217C>G (p.Val739=)
 dbSNP
11g.47338530G=CA1969332205MYBPC3c.2298C= (p.Val766=)
c.2280C= (p.Val760=)
c.2217C= (p.Val739=)

Number of alleles fetched