Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47341149_47341205dup | CA2573147067 | MYBPC3 | c.1831_1887dup (p.Leu629_His630insGluAlaAspTyrSerPheValProGluGlyPheAlaCysAsnLeuSerAlaLysLeu) c.1813_1869dup (p.Leu623_His624insGluAlaAspTyrSerPheValProGluGlyPheAlaCysAsnLeuSerAlaLysLeu) | ClinVar dbSNP |
11 | g.47341159_47341163delinsACAGG | CA1969334625 | MYBPC3 | c.1872_1876delinsCCTGT (p.Asn624=) c.1854_1858delinsCCTGT (p.Asn618=) | |
11 | g.47341160_47341162del | CA2613398190 | MYBPC3 | c.1873_1875del (p.Leu625del) c.1855_1857del (p.Leu619del) | gnomAD v4 |
11 | g.47341160_47341163del | CA599374428 | MYBPC3 | c.1872_1875del (p.Leu625GlnfsTer?) c.1854_1857del (p.Leu619GlnfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47341160_47341164del | CA2613398189 | MYBPC3 | c.1871_1875del (p.Asn624IlefsTer12) c.1853_1857del (p.Asn618IlefsTer12) | gnomAD v4 |
11 | g.47341161_47341163del | CA2613398200 | MYBPC3 | c.1872_1874del (p.Asn624_Leu625delinsLys) c.1854_1856del (p.Asn618_Leu619delinsLys) | gnomAD v4 |
11 | g.47341161_47341168del | CA2613398201 | MYBPC3 | c.1867_1874del (p.Cys623ValfsTer12) c.1849_1856del (p.Cys617ValfsTer12) | gnomAD v4 |
11 | g.47341162G>A | CA474218175 | MYBPC3 | c.1873C>T (p.Leu625=) c.1855C>T (p.Leu619=) | gnomAD v4 |
11 | g.47341162G>C | CA380323706 | MYBPC3 | c.1873C>G (p.Leu625Val) c.1855C>G (p.Leu619Val) | |
11 | g.47341162G>T | CA380323709 | MYBPC3 | c.1873C>A (p.Leu625Met) c.1855C>A (p.Leu619Met) | gnomAD v4 |
11 | g.47341162_47341163del | CA2613398207 | MYBPC3 | c.1872_1873del (p.Leu625ValfsTer12) c.1854_1855del (p.Leu619ValfsTer12) | gnomAD v4 |
11 | g.47341163G>A | CA474218176 | MYBPC3 | c.1872C>T (p.Asn624=) c.1854C>T (p.Asn618=) | |
11 | g.47341163G>C | CA380323712 | MYBPC3 | c.1872C>G (p.Asn624Lys) c.1854C>G (p.Asn618Lys) | |
11 | g.47341163G>T | CA380323714 | MYBPC3 | c.1872C>A (p.Asn624Lys) c.1854C>A (p.Asn618Lys) | gnomAD v4 |
11 | g.47341164T>A | CA380323723 | MYBPC3 | c.1871A>T (p.Asn624Ile) c.1853A>T (p.Asn618Ile) | gnomAD v4 |
11 | g.47341164T>C | CA078354 | MYBPC3 | c.1871A>G (p.Asn624Ser) c.1853A>G (p.Asn618Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47341164T>G | CA380323718 | MYBPC3 | c.1871A>C (p.Asn624Thr) c.1853A>C (p.Asn618Thr) | |
11 | g.47341164T= | CA1969334630 | MYBPC3 | c.1871A= (p.Asn624=) c.1853A= (p.Asn618=) | |
11 | g.47341165T>A | CA380323728 | MYBPC3 | c.1870A>T (p.Asn624Tyr) c.1852A>T (p.Asn618Tyr) | |
11 | g.47341165T>C | CA380323726 | MYBPC3 | c.1870A>G (p.Asn624Asp) c.1852A>G (p.Asn618Asp) | gnomAD v4 |
11 | g.47341165T>G | CA380323731 | MYBPC3 | c.1870A>C (p.Asn624His) c.1852A>C (p.Asn618His) | |
11 | g.47341165_47341166insTTTACT | CA2613398223 | MYBPC3 | c.1870_1871insGTAAAA (p.Cys623_Asn624insSerLys) c.1852_1853insGTAAAA (p.Cys617_Asn618insSerLys) | gnomAD v4 |
11 | g.47341165_47341166insTTTTAAT | CA599374429 | MYBPC3 | c.1870_1871insTTAAAAA (p.Asn624IlefsTer16) c.1852_1853insTTAAAAA (p.Asn618IlefsTer16) | gnomAD v2 gnomAD v4 |
11 | g.47341165_47341166insTTTTACT | CA2613398225 | MYBPC3 | c.1870_1871insGTAAAAA (p.Asn624SerfsTer16) c.1852_1853insGTAAAAA (p.Asn618SerfsTer16) | gnomAD v4 |
11 | g.47341166G>A | CA011380 | MYBPC3 | c.1869C>T (p.Cys623=) c.1851C>T (p.Cys617=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47341166G>C | CA380323737 | MYBPC3 | c.1869C>G (p.Cys623Trp) c.1851C>G (p.Cys617Trp) | |
11 | g.47341166G= | CA1969334631 | MYBPC3 | c.1869C= (p.Cys623=) c.1851C= (p.Cys617=) | |
11 | g.47341166G>T | CA011370 | MYBPC3 | c.1869C>A (p.Cys623Ter) c.1851C>A (p.Cys617Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.47341166_47341167del | CA2613398236 | MYBPC3 | c.1868_1869del (p.Cys623Ter) c.1850_1851del (p.Cys617Ter) | gnomAD v4 |
11 | g.47341166_47341167insA | CA2613398245 | MYBPC3 | c.1868_1869insT (p.Asn624GlnfsTer14) c.1850_1851insT (p.Asn618GlnfsTer14) | gnomAD v4 |
11 | g.47341166_47341167insTTAATGATA | CA2613398244 | MYBPC3 | c.1868_1869insTATCATTAA (p.Cys623_Asn624insIleIleAsn) c.1850_1851insTATCATTAA (p.Cys617_Asn618insIleIleAsn) | gnomAD v4 |
11 | g.47341167del | CA599374430 | MYBPC3 | c.1868del (p.Cys623SerfsTer?) c.1850del (p.Cys617SerfsTer?) | gnomAD v2 gnomAD v4 |
11 | g.47341167C>A | CA380323742 | MYBPC3 | c.1868G>T (p.Cys623Phe) c.1850G>T (p.Cys617Phe) | gnomAD v4 |
11 | g.47341167C>G | CA380323746 | MYBPC3 | c.1868G>C (p.Cys623Ser) c.1850G>C (p.Cys617Ser) | |
11 | g.47341167C>T | CA380323749 | MYBPC3 | c.1868G>A (p.Cys623Tyr) c.1850G>A (p.Cys617Tyr) | gnomAD v4 |
11 | g.47341168del | CA2613398250 | MYBPC3 | c.1867del (p.Cys623AlafsTer?) c.1849del (p.Cys617AlafsTer?) | gnomAD v4 |
11 | g.47341168A= | CA1969334634 | MYBPC3 | c.1867T= (p.Cys623=) c.1849T= (p.Cys617=) | |
11 | g.47341168A>C | CA380323752 | MYBPC3 | c.1867T>G (p.Cys623Gly) c.1849T>G (p.Cys617Gly) | |
11 | g.47341168A>G | CA380323756 | MYBPC3 | c.1867T>C (p.Cys623Arg) c.1849T>C (p.Cys617Arg) | gnomAD v4 |
11 | g.47341168A>T | CA047282 | MYBPC3 | c.1867T>A (p.Cys623Ser) c.1849T>A (p.Cys617Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47341168_47341169insC | CA2613398268 | MYBPC3 | c.1866_1867insG (p.Cys623ValfsTer15) c.1848_1849insG (p.Cys617ValfsTer15) | gnomAD v4 |
11 | g.47341168_47341169insTAC | CA599374431 | MYBPC3 | c.1866_1867insGTA (p.Ala622_Cys623insVal) c.1848_1849insGTA (p.Ala616_Cys617insVal) | gnomAD v2 gnomAD v4 |
11 | g.47341168_47341169insTGATAC | CA2613398260 | MYBPC3 | c.1866_1867insGTATCA (p.Ala622_Cys623insValSer) c.1848_1849insGTATCA (p.Ala616_Cys617insValSer) | gnomAD v4 |
11 | g.47341168_47341169insATGATAC | CA2613398269 | MYBPC3 | c.1866_1867insGTATCAT (p.Cys623ValfsTer17) c.1848_1849insGTATCAT (p.Cys617ValfsTer17) | gnomAD v4 |
11 | g.47341169G>A | CA047066 | MYBPC3 | c.1866C>T (p.Ala622=) c.1848C>T (p.Ala616=) | gnomAD v4 |
11 | g.47341169G>C | CA474218181 | MYBPC3 | c.1866C>G (p.Ala622=) c.1848C>G (p.Ala616=) | |
11 | g.47341169G>T | CA474218180 | MYBPC3 | c.1866C>A (p.Ala622=) c.1848C>A (p.Ala616=) | ClinVar gnomAD v4 |
11 | g.47341170del | CA2613398265 | MYBPC3 | c.1866del (p.Cys623AlafsTer?) c.1848del (p.Cys617AlafsTer?) | gnomAD v4 |
11 | g.47341170G>A | CA380323765 | MYBPC3 | c.1865C>T (p.Ala622Val) c.1847C>T (p.Ala616Val) | |
11 | g.47341170G>C | CA380323767 | MYBPC3 | c.1865C>G (p.Ala622Gly) c.1847C>G (p.Ala616Gly) |