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.47342598A= | CA1969335815 | MYBPC3 | c.1604T= (p.Leu535=) c.1586T= (p.Leu529=) | |
11 | g.47342598A>C | CA380325021 | MYBPC3 | c.1604T>G (p.Leu535Arg) c.1586T>G (p.Leu529Arg) | |
11 | g.47342598A>G | CA010722 | MYBPC3 | c.1604T>C (p.Leu535Pro) c.1586T>C (p.Leu529Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47342598A>T | CA380325020 | MYBPC3 | c.1604T>A (p.Leu535Gln) c.1586T>A (p.Leu529Gln) | |
11 | g.47342598_47342600delinsAGC | CA1969335817 | MYBPC3 | c.1602_1604delinsGCT (p.Ala534=) c.1584_1586delinsGCT (p.Ala528=) | |
11 | g.47342599G>A | CA474219608 | MYBPC3 | c.1603C>T (p.Leu535=) c.1585C>T (p.Leu529=) | gnomAD v4 |
11 | g.47342599G>C | CA380325022 | MYBPC3 | c.1603C>G (p.Leu535Val) c.1585C>G (p.Leu529Val) | |
11 | g.47342599G>T | CA380325023 | MYBPC3 | c.1603C>A (p.Leu535Met) c.1585C>A (p.Leu529Met) | |
11 | g.47342601_47342602del | CA676999863 | MYBPC3 | c.1602_1603del (p.Leu535GlyfsTer2) c.1584_1585del (p.Leu529GlyfsTer2) | dbSNP gnomAD v4 |
11 | g.47342600C>A | CA474219611 | MYBPC3 | c.1602G>T (p.Ala534=) c.1584G>T (p.Ala528=) | ClinVar dbSNP |
11 | g.47342600C= | CA1969335819 | MYBPC3 | c.1602G= (p.Ala534=) c.1584G= (p.Ala528=) | |
11 | g.47342600C>G | CA474219613 | MYBPC3 | c.1602G>C (p.Ala534=) c.1584G>C (p.Ala528=) | |
11 | g.47342600C>T | CA010713 | MYBPC3 | c.1602G>A (p.Ala534=) c.1584G>A (p.Ala528=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47342601G>A | CA078197 | MYBPC3 | c.1601C>T (p.Ala534Val) c.1583C>T (p.Ala528Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47342601G>C | CA380325024 | MYBPC3 | c.1601C>G (p.Ala534Gly) c.1583C>G (p.Ala528Gly) | ClinVar dbSNP gnomAD v4 |
11 | g.47342601G= | CA1969335823 | MYBPC3 | c.1601C= (p.Ala534=) c.1583C= (p.Ala528=) | |
11 | g.47342601G>T | CA380325025 | MYBPC3 | c.1601C>A (p.Ala534Glu) c.1583C>A (p.Ala528Glu) | dbSNP COSMIC COSMIC |
11 | g.47342602C>A | CA380325026 | MYBPC3 | c.1600G>T (p.Ala534Ser) c.1582G>T (p.Ala528Ser) | |
11 | g.47342602C>G | CA380325028 | MYBPC3 | c.1600G>C (p.Ala534Pro) c.1582G>C (p.Ala528Pro) | |
11 | g.47342602C>T | CA380325027 | MYBPC3 | c.1600G>A (p.Ala534Thr) c.1582G>A (p.Ala528Thr) | |
11 | g.47342603C>A | CA380325029 | MYBPC3 | c.1599G>T (p.Gln533His) c.1581G>T (p.Gln527His) | gnomAD v4 |
11 | g.47342603C= | CA1969335824 | MYBPC3 | c.1599G= (p.Gln533=) c.1581G= (p.Gln527=) | |
11 | g.47342603C>G | CA078194 | MYBPC3 | c.1599G>C (p.Gln533His) c.1581G>C (p.Gln527His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47342603C>T | CA045949 | MYBPC3 | c.1599G>A (p.Gln533=) c.1581G>A (p.Gln527=) | dbSNP |
11 | g.47342604T>A | CA380325030 | MYBPC3 | c.1598A>T (p.Gln533Leu) c.1580A>T (p.Gln527Leu) | gnomAD v4 |
11 | g.47342604T>C | CA380325031 | MYBPC3 | c.1598A>G (p.Gln533Arg) c.1580A>G (p.Gln527Arg) | dbSNP gnomAD v4 |
11 | g.47342604T>G | CA380325032 | MYBPC3 | c.1598A>C (p.Gln533Pro) c.1580A>C (p.Gln527Pro) | |
11 | g.47342604T= | CA1969335826 | MYBPC3 | c.1598A= (p.Gln533=) c.1580A= (p.Gln527=) | |
11 | g.47342605G>A | CA380325033 | MYBPC3 | c.1597C>T (p.Gln533Ter) c.1579C>T (p.Gln527Ter) | ClinVar |
11 | g.47342605G>C | CA380325034 | MYBPC3 | c.1597C>G (p.Gln533Glu) c.1579C>G (p.Gln527Glu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47342605G= | CA1969335828 | MYBPC3 | c.1597C= (p.Gln533=) c.1579C= (p.Gln527=) | |
11 | g.47342605G>T | CA380325035 | MYBPC3 | c.1597C>A (p.Gln533Lys) c.1579C>A (p.Gln527Lys) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47342606del | CA915940859 | MYBPC3 | c.1597del (p.Gln533ArgfsTer22) c.1579del (p.Gln527ArgfsTer22) | |
11 | g.47342606G>A | CA474219626 | MYBPC3 | c.1596C>T (p.Gly532=) c.1578C>T (p.Gly526=) | |
11 | g.47342606G>C | CA474219627 | MYBPC3 | c.1596C>G (p.Gly532=) c.1578C>G (p.Gly526=) | |
11 | g.47342606G>T | CA474219629 | MYBPC3 | c.1596C>A (p.Gly532=) c.1578C>A (p.Gly526=) | |
11 | g.47342606_47342607delinsA | CA2580084244 | MYBPC3 | c.1595_1596delinsT (p.Gly532ValfsTer23) c.1577_1578delinsT (p.Gly526ValfsTer23) | ClinVar |
11 | g.47342606_47342607delinsGC | CA1969335830 | MYBPC3 | c.1595_1596delinsGC (p.Gly532=) c.1577_1578delinsGC (p.Gly526=) | |
11 | g.47342607C>A | CA010705 | MYBPC3 | c.1595G>T (p.Gly532Val) c.1577G>T (p.Gly526Val) | ClinVar dbSNP gnomAD v4 |
11 | g.47342607C= | CA1969335834 | MYBPC3 | c.1595G= (p.Gly532=) c.1577G= (p.Gly526=) | |
11 | g.47342607C>G | CA380325036 | MYBPC3 | c.1595G>C (p.Gly532Ala) c.1577G>C (p.Gly526Ala) | |
11 | g.47342607C>T | CA078192 | MYBPC3 | c.1595G>A (p.Gly532Asp) c.1577G>A (p.Gly526Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47342611dup | CA2580084245 | MYBPC3 | c.1595dup (p.Gln533ProfsTer5) c.1577dup (p.Gln527ProfsTer5) | ClinVar |
11 | g.47342611del | CA010697 | MYBPC3 | c.1595del (p.Gly532AlafsTer23) c.1577del (p.Gly526AlafsTer23) | ClinVar dbSNP |
11 | g.47342607_47342632delinsCCCCCGCTAGTGCACAGTGCATAGTG | CA1969335833 | MYBPC3 | c.1570_1595delinsCACTATGCACTGTGCACTAGCGGGGG (p.His524=) c.1552_1577delinsCACTATGCACTGTGCACTAGCGGGGG (p.His518=) | |
11 | g.47342608C>A | CA380325037 | MYBPC3 | c.1594G>T (p.Gly532Cys) c.1576G>T (p.Gly526Cys) | gnomAD v4 |
11 | g.47342608C= | CA1969335838 | MYBPC3 | c.1594G= (p.Gly532=) c.1576G= (p.Gly526=) | |
11 | g.47342608C>G | CA380325039 | MYBPC3 | c.1594G>C (p.Gly532Arg) c.1576G>C (p.Gly526Arg) | ClinVar dbSNP gnomAD v4 |