Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47341257_47344691del | CA913203384 | MYBPC3 | c.1091-1066_1791-12del c.1073-1066_1773-12del | |
11 | g.47342513_47342744del | CA2580084236 | MYBPC3 | c.1460_1624+67del c.1442_1606+67del | ClinVar |
11 | g.47342663_47342665del | CA2580615690 | MYBPC3 | c.1541_1543del (p.Ile514del) c.1523_1525del (p.Ile508del) | ClinVar dbSNP |
11 | g.47342664A>C | CA380325149 | MYBPC3 | c.1538T>G (p.Ile513Ser) c.1520T>G (p.Ile507Ser) | |
11 | g.47342664A>G | CA380325151 | MYBPC3 | c.1538T>C (p.Ile513Thr) c.1520T>C (p.Ile507Thr) | |
11 | g.47342664A>T | CA380325150 | MYBPC3 | c.1538T>A (p.Ile513Asn) c.1520T>A (p.Ile507Asn) | |
11 | g.47342665T>A | CA380325152 | MYBPC3 | c.1537A>T (p.Ile513Phe) c.1519A>T (p.Ile507Phe) | gnomAD v4 |
11 | g.47342665T>C | CA045651 | MYBPC3 | c.1537A>G (p.Ile513Val) c.1519A>G (p.Ile507Val) | COSMIC COSMIC |
11 | g.47342665T>G | CA380325153 | MYBPC3 | c.1537A>C (p.Ile513Leu) c.1519A>C (p.Ile507Leu) | |
11 | g.47342666C>A | CA474219842 | MYBPC3 | c.1536G>T (p.Leu512=) c.1518G>T (p.Leu506=) | |
11 | g.47342666C= | CA1969335910 | MYBPC3 | c.1536G= (p.Leu512=) c.1518G= (p.Leu506=) | |
11 | g.47342666C>G | CA474219844 | MYBPC3 | c.1536G>C (p.Leu512=) c.1518G>C (p.Leu506=) | |
11 | g.47342666C>T | CA078155 | MYBPC3 | c.1536G>A (p.Leu512=) c.1518G>A (p.Leu506=) | dbSNP ExAC gnomAD v2 |
11 | g.47342667A= | CA1969335913 | MYBPC3 | c.1535T= (p.Leu512=) c.1517T= (p.Leu506=) | |
11 | g.47342667A>C | CA380325154 | MYBPC3 | c.1535T>G (p.Leu512Arg) c.1517T>G (p.Leu506Arg) | |
11 | g.47342667A>G | CA010583 | MYBPC3 | c.1535T>C (p.Leu512Pro) c.1517T>C (p.Leu506Pro) | ClinVar dbSNP gnomAD v4 |
11 | g.47342667A>T | CA010574 | MYBPC3 | c.1535T>A (p.Leu512Gln) c.1517T>A (p.Leu506Gln) | ClinVar dbSNP |
11 | g.47342668G>A | CA474219852 | MYBPC3 | c.1534C>T (p.Leu512=) c.1516C>T (p.Leu506=) | ClinVar dbSNP |
11 | g.47342668G>C | CA380325155 | MYBPC3 | c.1534C>G (p.Leu512Val) c.1516C>G (p.Leu506Val) | |
11 | g.47342668G= | CA1969335915 | MYBPC3 | c.1534C= (p.Leu512=) c.1516C= (p.Leu506=) | |
11 | g.47342668G>T | CA380325156 | MYBPC3 | c.1534C>A (p.Leu512Met) c.1516C>A (p.Leu506Met) | |
11 | g.47342669G>A | CA474219855 | MYBPC3 | c.1533C>T (p.His511=) c.1515C>T (p.His505=) | dbSNP |
11 | g.47342669G>C | CA380325157 | MYBPC3 | c.1533C>G (p.His511Gln) c.1515C>G (p.His505Gln) | ClinVar |
11 | g.47342669G= | CA1969335916 | MYBPC3 | c.1533C= (p.His511=) c.1515C= (p.His505=) | |
11 | g.47342669G>T | CA380325158 | MYBPC3 | c.1533C>A (p.His511Gln) c.1515C>A (p.His505Gln) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47342670T>A | CA380325159 | MYBPC3 | c.1532A>T (p.His511Leu) c.1514A>T (p.His505Leu) | |
11 | g.47342670T>C | CA380325161 | MYBPC3 | c.1532A>G (p.His511Arg) c.1514A>G (p.His505Arg) | ClinVar dbSNP |
11 | g.47342670T>G | CA380325160 | MYBPC3 | c.1532A>C (p.His511Pro) c.1514A>C (p.His505Pro) | |
11 | g.47342670T= | CA1969335918 | MYBPC3 | c.1532A= (p.His511=) c.1514A= (p.His505=) | |
11 | g.47342671G>A | CA380325162 | MYBPC3 | c.1531C>T (p.His511Tyr) c.1513C>T (p.His505Tyr) | |
11 | g.47342671G>C | CA380325164 | MYBPC3 | c.1531C>G (p.His511Asp) c.1513C>G (p.His505Asp) | |
11 | g.47342671G= | CA1969335920 | MYBPC3 | c.1531C= (p.His511=) c.1513C= (p.His505=) | |
11 | g.47342671G>T | CA380325163 | MYBPC3 | c.1531C>A (p.His511Asn) c.1513C>A (p.His505Asn) | ClinVar dbSNP gnomAD v4 |
11 | g.47342672del | CA2580084250 | MYBPC3 | c.1531del (p.His511ThrfsTer2) c.1513del (p.His505ThrfsTer2) | ClinVar |
11 | g.47342672G>A | CA474219862 | MYBPC3 | c.1530C>T (p.His510=) c.1512C>T (p.His504=) | ClinVar dbSNP |
11 | g.47342672G>C | CA380325165 | MYBPC3 | c.1530C>G (p.His510Gln) c.1512C>G (p.His504Gln) | |
11 | g.47342672G= | CA1969335922 | MYBPC3 | c.1530C= (p.His510=) c.1512C= (p.His504=) | |
11 | g.47342672G>T | CA380325166 | MYBPC3 | c.1530C>A (p.His510Gln) c.1512C>A (p.His504Gln) | |
11 | g.47342674_47342675dup | CA2574816040 | MYBPC3 | c.1529_1530dup (p.His511ThrfsTer3) c.1511_1512dup (p.His505ThrfsTer3) | |
11 | g.47342673T>A | CA380325167 | MYBPC3 | c.1529A>T (p.His510Leu) c.1511A>T (p.His504Leu) | |
11 | g.47342673T>C | CA380325169 | MYBPC3 | c.1529A>G (p.His510Arg) c.1511A>G (p.His504Arg) | |
11 | g.47342673T>G | CA380325168 | MYBPC3 | c.1529A>C (p.His510Pro) c.1511A>C (p.His504Pro) | |
11 | g.47342674G>A | CA380325170 | MYBPC3 | c.1528C>T (p.His510Tyr) c.1510C>T (p.His504Tyr) | gnomAD v4 |
11 | g.47342674G>C | CA380325172 | MYBPC3 | c.1528C>G (p.His510Asp) c.1510C>G (p.His504Asp) | |
11 | g.47342674G>T | CA380325171 | MYBPC3 | c.1528C>A (p.His510Asn) c.1510C>A (p.His504Asn) | |
11 | g.47342675T>A | CA380325173 | MYBPC3 | c.1527A>T (p.Arg509Ser) c.1509A>T (p.Arg503Ser) | gnomAD v4 |
11 | g.47342675T>C | CA474219870 | MYBPC3 | c.1527A>G (p.Arg509=) c.1509A>G (p.Arg503=) | |
11 | g.47342675T>G | CA380325174 | MYBPC3 | c.1527A>C (p.Arg509Ser) c.1509A>C (p.Arg503Ser) | |
11 | g.47342678_47342679del | CA2580615691 | MYBPC3 | c.1526_1527del (p.Arg509ThrfsTer21) c.1508_1509del (p.Arg503ThrfsTer21) | ClinVar dbSNP gnomAD v4 |
11 | g.47342676C>A | CA380325175 | MYBPC3 | c.1526G>T (p.Arg509Ile) c.1508G>T (p.Arg503Ile) |