Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.47341257_47344691delCA913203384MYBPC3c.1091-1066_1791-12del
c.1073-1066_1773-12del
11g.47342513_47342744delCA2580084236MYBPC3c.1460_1624+67del
c.1442_1606+67del
ClinVar
11g.47342656_47342659delCA078158MYBPC3c.1544_1547del (p.Asn515ArgfsTer?)
c.1526_1529del (p.Asn509ArgfsTer?)
11g.47342656_47342659delinsCGTTCA1969335902MYBPC3c.1543_1546delinsAACG (p.Asn515=)
c.1525_1528delinsAACG (p.Asn509=)
11g.47342658_47342660delCA010600MYBPC3c.1543_1545del (p.Asn515del)
c.1525_1527del (p.Asn509del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47342658T>ACA380325137MYBPC3c.1544A>T (p.Asn515Ile)
c.1526A>T (p.Asn509Ile)
11g.47342658T>CCA010609MYBPC3c.1544A>G (p.Asn515Ser)
c.1526A>G (p.Asn509Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47342658T>GCA380325138MYBPC3c.1544A>C (p.Asn515Thr)
c.1526A>C (p.Asn509Thr)
11g.47342658T=CA1969335905MYBPC3c.1544A= (p.Asn515=)
c.1526A= (p.Asn509=)
11g.47342659_47342662delCA045666MYBPC3c.1541_1544del (p.Ile514ThrfsTer?)
c.1523_1526del (p.Ile508ThrfsTer?)
11g.47342659T>ACA380325139MYBPC3c.1543A>T (p.Asn515Tyr)
c.1525A>T (p.Asn509Tyr)
11g.47342659T>CCA380325140MYBPC3c.1543A>G (p.Asn515Asp)
c.1525A>G (p.Asn509Asp)
11g.47342659T>GCA380325141MYBPC3c.1543A>C (p.Asn515His)
c.1525A>C (p.Asn509His)
gnomAD v4
11g.47342663_47342665delCA2580615690MYBPC3c.1541_1543del (p.Ile514del)
c.1523_1525del (p.Ile508del)
dbSNP
11g.47342660G>ACA045711MYBPC3c.1542C>T (p.Ile514=)
c.1524C>T (p.Ile508=)
11g.47342660G>CCA380325142MYBPC3c.1542C>G (p.Ile514Met)
c.1524C>G (p.Ile508Met)
11g.47342660G>TCA474219825MYBPC3c.1542C>A (p.Ile514=)
c.1524C>A (p.Ile508=)
11g.47342661A>CCA380325143MYBPC3c.1541T>G (p.Ile514Ser)
c.1523T>G (p.Ile508Ser)
11g.47342661A>GCA380325145MYBPC3c.1541T>C (p.Ile514Thr)
c.1523T>C (p.Ile508Thr)
11g.47342661A>TCA380325144MYBPC3c.1541T>A (p.Ile514Asn)
c.1523T>A (p.Ile508Asn)
11g.47342662T>ACA380325146MYBPC3c.1540A>T (p.Ile514Phe)
c.1522A>T (p.Ile508Phe)
11g.47342662T>CCA010593MYBPC3c.1540A>G (p.Ile514Val)
c.1522A>G (p.Ile508Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47342662T>GCA380325147MYBPC3c.1540A>C (p.Ile514Leu)
c.1522A>C (p.Ile508Leu)
11g.47342662T=CA1969335907MYBPC3c.1540A= (p.Ile514=)
c.1522A= (p.Ile508=)
11g.47342663G>ACA474219833MYBPC3c.1539C>T (p.Ile513=)
c.1521C>T (p.Ile507=)
dbSNP gnomAD v3 gnomAD v4
11g.47342663G>CCA380325148MYBPC3c.1539C>G (p.Ile513Met)
c.1521C>G (p.Ile507Met)
11g.47342663G=CA1969335909MYBPC3c.1539C= (p.Ile513=)
c.1521C= (p.Ile507=)
11g.47342663G>TCA474219834MYBPC3c.1539C>A (p.Ile513=)
c.1521C>A (p.Ile507=)
11g.47342664A>CCA380325149MYBPC3c.1538T>G (p.Ile513Ser)
c.1520T>G (p.Ile507Ser)
11g.47342664A>GCA380325151MYBPC3c.1538T>C (p.Ile513Thr)
c.1520T>C (p.Ile507Thr)
11g.47342664A>TCA380325150MYBPC3c.1538T>A (p.Ile513Asn)
c.1520T>A (p.Ile507Asn)
11g.47342665T>ACA380325152MYBPC3c.1537A>T (p.Ile513Phe)
c.1519A>T (p.Ile507Phe)
gnomAD v4
11g.47342665T>CCA045651MYBPC3c.1537A>G (p.Ile513Val)
c.1519A>G (p.Ile507Val)
COSMIC COSMIC
11g.47342665T>GCA380325153MYBPC3c.1537A>C (p.Ile513Leu)
c.1519A>C (p.Ile507Leu)
11g.47342666C>ACA474219842MYBPC3c.1536G>T (p.Leu512=)
c.1518G>T (p.Leu506=)
11g.47342666C=CA1969335910MYBPC3c.1536G= (p.Leu512=)
c.1518G= (p.Leu506=)
11g.47342666C>GCA474219844MYBPC3c.1536G>C (p.Leu512=)
c.1518G>C (p.Leu506=)
11g.47342666C>TCA078155MYBPC3c.1536G>A (p.Leu512=)
c.1518G>A (p.Leu506=)
dbSNP ExAC gnomAD v2
11g.47342667A=CA1969335913MYBPC3c.1535T= (p.Leu512=)
c.1517T= (p.Leu506=)
11g.47342667A>CCA380325154MYBPC3c.1535T>G (p.Leu512Arg)
c.1517T>G (p.Leu506Arg)
11g.47342667A>GCA010583MYBPC3c.1535T>C (p.Leu512Pro)
c.1517T>C (p.Leu506Pro)
ClinVar dbSNP gnomAD v4
11g.47342667A>TCA010574MYBPC3c.1535T>A (p.Leu512Gln)
c.1517T>A (p.Leu506Gln)
ClinVar dbSNP
11g.47342668G>ACA474219852MYBPC3c.1534C>T (p.Leu512=)
c.1516C>T (p.Leu506=)
ClinVar dbSNP
11g.47342668G>CCA380325155MYBPC3c.1534C>G (p.Leu512Val)
c.1516C>G (p.Leu506Val)
11g.47342668G=CA1969335915MYBPC3c.1534C= (p.Leu512=)
c.1516C= (p.Leu506=)
11g.47342668G>TCA380325156MYBPC3c.1534C>A (p.Leu512Met)
c.1516C>A (p.Leu506Met)
11g.47342669G>ACA474219855MYBPC3c.1533C>T (p.His511=)
c.1515C>T (p.His505=)
dbSNP
11g.47342669G>CCA380325157MYBPC3c.1533C>G (p.His511Gln)
c.1515C>G (p.His505Gln)
11g.47342669G=CA1969335916MYBPC3c.1533C= (p.His511=)
c.1515C= (p.His505=)
11g.47342669G>TCA380325158MYBPC3c.1533C>A (p.His511Gln)
c.1515C>A (p.His505Gln)
dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched