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.47338520_47338523dupCA891842474MYBPC3c.2305_2308dup (p.Val771ArgfsTer?)
c.2287_2290dup (p.Val765ArgfsTer?)
c.2224_2227dup (p.Val744ArgfsTer?)
 ClinVar dbSNP
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=)
11g.47338530G>TCA474216960MYBPC3c.2298C>A (p.Val766=)
c.2280C>A (p.Val760=)
c.2217C>A (p.Val739=)
11g.47338531A>CCA380320156MYBPC3c.2297T>G (p.Val766Gly)
c.2279T>G (p.Val760Gly)
c.2216T>G (p.Val739Gly)
11g.47338531A>GCA380320157MYBPC3c.2297T>C (p.Val766Ala)
c.2279T>C (p.Val760Ala)
c.2216T>C (p.Val739Ala)
11g.47338531A>TCA380320158MYBPC3c.2297T>A (p.Val766Asp)
c.2279T>A (p.Val760Asp)
c.2216T>A (p.Val739Asp)
11g.47338532C>ACA380320159MYBPC3c.2296G>T (p.Val766Phe)
c.2278G>T (p.Val760Phe)
c.2215G>T (p.Val739Phe)
11g.47338532C=CA1969332208MYBPC3c.2296G= (p.Val766=)
c.2278G= (p.Val760=)
c.2215G= (p.Val739=)
11g.47338532C>GCA380320160MYBPC3c.2296G>C (p.Val766Leu)
c.2278G>C (p.Val760Leu)
c.2215G>C (p.Val739Leu)
11g.47338532C>TCA380320161MYBPC3c.2296G>A (p.Val766Ile)
c.2278G>A (p.Val760Ile)
c.2215G>A (p.Val739Ile)
 dbSNP
11g.47338532_47338533insCGAATACA2503907703MYBPC3c.2295_2296insTATTCG (p.Thr765_Val766insTyrSer)
c.2277_2278insTATTCG (p.Thr759_Val760insTyrSer)
c.2214_2215insTATTCG (p.Thr738_Val739insTyrSer)
11g.47338533T>ACA078619MYBPC3c.2295A>T (p.Thr765=)
c.2277A>T (p.Thr759=)
c.2214A>T (p.Thr738=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47338533T>CCA474216961MYBPC3c.2295A>G (p.Thr765=)
c.2277A>G (p.Thr759=)
c.2214A>G (p.Thr738=)
11g.47338533T>GCA474216962MYBPC3c.2295A>C (p.Thr765=)
c.2277A>C (p.Thr759=)
c.2214A>C (p.Thr738=)
11g.47338533T=CA1969332212MYBPC3c.2295A= (p.Thr765=)
c.2277A= (p.Thr759=)
c.2214A= (p.Thr738=)
11g.47338535_47338536delCA2580615673MYBPC3c.2294_2295del (p.Thr765SerfsTer?)
c.2276_2277del (p.Thr759SerfsTer?)
c.2213_2214del (p.Thr738SerfsTer?)
 ClinVar dbSNP
11g.47338534G>ACA380320162MYBPC3c.2294C>T (p.Thr765Ile)
c.2276C>T (p.Thr759Ile)
c.2213C>T (p.Thr738Ile)
 dbSNP
11g.47338534G>CCA380320163MYBPC3c.2294C>G (p.Thr765Arg)
c.2276C>G (p.Thr759Arg)
c.2213C>G (p.Thr738Arg)

Number of alleles fetched