| 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.47341161_47341168del | CA2613398201 | MYBPC3 | c.1867_1874del (p.Cys623ValfsTer12) c.1849_1856del (p.Cys617ValfsTer12) | 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) | |
| 11 | g.47341170G>T | CA380323769 | MYBPC3 | c.1865C>A (p.Ala622Asp) c.1847C>A (p.Ala616Asp) | |
| 11 | g.47341171C>A | CA380323777 | MYBPC3 | c.1864G>T (p.Ala622Ser) c.1846G>T (p.Ala616Ser) | gnomAD v4 |
| 11 | g.47341171C= | CA1969334637 | MYBPC3 | c.1864G= (p.Ala622=) c.1846G= (p.Ala616=) | |
| 11 | g.47341171C>G | CA380323772 | MYBPC3 | c.1864G>C (p.Ala622Pro) c.1846G>C (p.Ala616Pro) | |
| 11 | g.47341171C>T | CA380323774 | MYBPC3 | c.1864G>A (p.Ala622Thr) c.1846G>A (p.Ala616Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47341171_47341172delinsCG | CA1969334635 | MYBPC3 | c.1863_1864delinsCG (p.Phe621=) c.1845_1846delinsCG (p.Phe615=) | |
| 11 | g.47341172del | CA011363 | MYBPC3 | c.1863del (p.Phe621LeufsTer?) c.1845del (p.Phe615LeufsTer?) | ClinVar dbSNP |
| 11 | g.47341172G>A | CA011356 | MYBPC3 | c.1863C>T (p.Phe621=) c.1845C>T (p.Phe615=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47341172G>C | CA380323782 | MYBPC3 | c.1863C>G (p.Phe621Leu) c.1845C>G (p.Phe615Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47341172G= | CA1969334640 | MYBPC3 | c.1863C= (p.Phe621=) c.1845C= (p.Phe615=) | |
| 11 | g.47341172G>T | CA380323784 | MYBPC3 | c.1863C>A (p.Phe621Leu) c.1845C>A (p.Phe615Leu) | gnomAD v4 |
| 11 | g.47341173_47341175del | CA2613398299 | MYBPC3 | c.1861_1863del (p.Phe621del) c.1843_1845del (p.Phe615del) | gnomAD v4 |
| 11 | g.47341173A>C | CA380323789 | MYBPC3 | c.1862T>G (p.Phe621Cys) c.1844T>G (p.Phe615Cys) | |
| 11 | g.47341173A>G | CA380323793 | MYBPC3 | c.1862T>C (p.Phe621Ser) c.1844T>C (p.Phe615Ser) | |
| 11 | g.47341173A>T | CA380323795 | MYBPC3 | c.1862T>A (p.Phe621Tyr) c.1844T>A (p.Phe615Tyr) | |
| 11 | g.47341173_47341175delinsAAG | CA1969334642 | MYBPC3 | c.1860_1862delinsCTT (p.Gly620=) c.1842_1844delinsCTT (p.Gly614=) | |
| 11 | g.47341173_47341174insCCACCG | CA2613398340 | MYBPC3 | c.1861_1862insCGGTGG (p.Phe621delinsSerValVal) c.1843_1844insCGGTGG (p.Phe615delinsSerValVal) | gnomAD v4 |
| 11 | g.47341174A= | CA1969334643 | MYBPC3 | c.1861T= (p.Phe621=) c.1843T= (p.Phe615=) | |
| 11 | g.47341174A>C | CA380323799 | MYBPC3 | c.1861T>G (p.Phe621Val) c.1843T>G (p.Phe615Val) | |
| 11 | g.47341174A>G | CA380323800 | MYBPC3 | c.1861T>C (p.Phe621Leu) c.1843T>C (p.Phe615Leu) | dbSNP gnomAD v4 |
| 11 | g.47341174A>T | CA380323803 | MYBPC3 | c.1861T>A (p.Phe621Ile) c.1843T>A (p.Phe615Ile) | |
| 11 | g.47341174_47341175del | CA599374432 | MYBPC3 | c.1860_1861del (p.Phe621ArgfsTer16) c.1842_1843del (p.Phe615ArgfsTer16) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47341175G>A | CA047032 | MYBPC3 | c.1860C>T (p.Gly620=) c.1842C>T (p.Gly614=) | |
| 11 | g.47341175G>C | CA078346 | MYBPC3 | c.1860C>G (p.Gly620=) c.1842C>G (p.Gly614=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47341175G= | CA1969334645 | MYBPC3 | c.1860C= (p.Gly620=) c.1842C= (p.Gly614=) | |
| 11 | g.47341175G>T | CA474218186 | MYBPC3 | c.1860C>A (p.Gly620=) c.1842C>A (p.Gly614=) | gnomAD v4 |
| 11 | g.47341175_47341176insATCTA | CA2613398409 | MYBPC3 | c.1859_1860insTAGAT (p.Phe621ArgfsTer?) c.1841_1842insTAGAT (p.Phe615ArgfsTer?) | gnomAD v4 |
| 11 | g.47341176C>A | CA011345 | MYBPC3 | c.1859G>T (p.Gly620Val) c.1841G>T (p.Gly614Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47341176C= | CA1969334649 | MYBPC3 | c.1859G= (p.Gly620=) c.1841G= (p.Gly614=) | |
| 11 | g.47341176C>G | CA380323812 | MYBPC3 | c.1859G>C (p.Gly620Ala) c.1841G>C (p.Gly614Ala) | |
| 11 | g.47341176C>T | CA380323808 | MYBPC3 | c.1859G>A (p.Gly620Asp) c.1841G>A (p.Gly614Asp) | ClinVar |
| 11 | g.47341176_47341183delinsCCCTCGGG | CA1969334647 | MYBPC3 | c.1852_1859delinsCCCGAGGG (p.Pro618=) c.1834_1841delinsCCCGAGGG (p.Pro612=) | |
| 11 | g.47341177C>A | CA380323815 | MYBPC3 | c.1858G>T (p.Gly620Cys) c.1840G>T (p.Gly614Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47341177C= | CA1969334652 | MYBPC3 | c.1858G= (p.Gly620=) c.1840G= (p.Gly614=) | |
| 11 | g.47341177C>G | CA380323817 | MYBPC3 | c.1858G>C (p.Gly620Arg) c.1840G>C (p.Gly614Arg) | |
| 11 | g.47341177C>T | CA380323820 | MYBPC3 | c.1858G>A (p.Gly620Ser) c.1840G>A (p.Gly614Ser) | gnomAD v4 |
| 11 | g.47341178_47341184del | CA599374433 | MYBPC3 | c.1852_1858del (p.Pro618AlafsTer?) c.1834_1840del (p.Pro612AlafsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47341177_47341178insACCGAGAT | CA2791323296 | MYBPC3 | c.1857_1858insATCTCGGT (p.Gly620IlefsTer?) c.1839_1840insATCTCGGT (p.Gly614IlefsTer?) | |
| 11 | g.47341178C>A | CA380323824 | MYBPC3 | c.1857G>T (p.Glu619Asp) c.1839G>T (p.Glu613Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47341178C= | CA1969334654 | MYBPC3 | c.1857G= (p.Glu619=) c.1839G= (p.Glu613=) | |
| 11 | g.47341178C>G | CA380323826 | MYBPC3 | c.1857G>C (p.Glu619Asp) c.1839G>C (p.Glu613Asp) | ClinVar |
| 11 | g.47341178C>T | CA078343 | MYBPC3 | c.1857G>A (p.Glu619=) c.1839G>A (p.Glu613=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47341179_47341184del | CA2791323297 | MYBPC3 | c.1852_1857del (p.Pro618_Glu619del) c.1834_1839del (p.Pro612_Glu613del) | |
| 11 | g.47341179T>A | CA380323829 | MYBPC3 | c.1856A>T (p.Glu619Val) c.1838A>T (p.Glu613Val) | |
| 11 | g.47341179T>C | CA380323832 | MYBPC3 | c.1856A>G (p.Glu619Gly) c.1838A>G (p.Glu613Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47341179T>G | CA380323834 | MYBPC3 | c.1856A>C (p.Glu619Ala) c.1838A>C (p.Glu613Ala) | |
| 11 | g.47341179T= | CA1969334657 | MYBPC3 | c.1856A= (p.Glu619=) c.1838A= (p.Glu613=) | |
| 11 | g.47341180C>A | CA380323837 | MYBPC3 | c.1855G>T (p.Glu619Ter) c.1837G>T (p.Glu613Ter) | gnomAD v4 COSMIC COSMIC |
| 11 | g.47341180C= | CA1969334659 | MYBPC3 | c.1855G= (p.Glu619=) c.1837G= (p.Glu613=) | |
| 11 | g.47341180C>G | CA380323839 | MYBPC3 | c.1855G>C (p.Glu619Gln) c.1837G>C (p.Glu613Gln) | |
| 11 | g.47341180C>T | CA011336 | MYBPC3 | c.1855G>A (p.Glu619Lys) c.1837G>A (p.Glu613Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47341181G>A | CA474218188 | MYBPC3 | c.1854C>T (p.Pro618=) c.1836C>T (p.Pro612=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47341181G>C | CA474218189 | MYBPC3 | c.1854C>G (p.Pro618=) c.1836C>G (p.Pro612=) | dbSNP gnomAD v4 |
| 11 | g.47341181G= | CA1969334661 | MYBPC3 | c.1854C= (p.Pro618=) c.1836C= (p.Pro612=) | |
| 11 | g.47341181G>T | CA474218190 | MYBPC3 | c.1854C>A (p.Pro618=) c.1836C>A (p.Pro612=) | gnomAD v4 |
| 11 | g.47341181_47341183del | CA2613398480 | MYBPC3 | c.1852_1854del (p.Pro618del) c.1834_1836del (p.Pro612del) | gnomAD v4 |
| 11 | g.47341183del | CA2695212779 | MYBPC3 | c.1854del (p.Glu619ArgfsTer?) c.1836del (p.Glu613ArgfsTer?) | |
| 11 | g.47341182G>A | CA380323846 | MYBPC3 | c.1853C>T (p.Pro618Leu) c.1835C>T (p.Pro612Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47341182G>C | CA380323849 | MYBPC3 | c.1853C>G (p.Pro618Arg) c.1835C>G (p.Pro612Arg) | gnomAD v4 |
| 11 | g.47341182G= | CA1969334662 | MYBPC3 | c.1853C= (p.Pro618=) c.1835C= (p.Pro612=) | |
| 11 | g.47341182G>T | CA047341 | MYBPC3 | c.1853C>A (p.Pro618His) c.1835C>A (p.Pro612His) | gnomAD v4 |
| 11 | g.47341183G>A | CA380323851 | MYBPC3 | c.1852C>T (p.Pro618Ser) c.1834C>T (p.Pro612Ser) | gnomAD v4 |
| 11 | g.47341183G>C | CA380323854 | MYBPC3 | c.1852C>G (p.Pro618Ala) c.1834C>G (p.Pro612Ala) | |
| 11 | g.47341183G= | CA1969334664 | MYBPC3 | c.1852C= (p.Pro618=) c.1834C= (p.Pro612=) | |
| 11 | g.47341183G>T | CA380323856 | MYBPC3 | c.1852C>A (p.Pro618Thr) c.1834C>A (p.Pro612Thr) | gnomAD v4 |
| 11 | g.47341183_47341184insAT | CA599374434 | MYBPC3 | c.1851_1852insAT (p.Pro618IlefsTer?) c.1833_1834insAT (p.Pro612IlefsTer?) | gnomAD v2 gnomAD v4 |
| 11 | g.47341183_47341184insATCTA | CA599374435 | MYBPC3 | c.1851_1852insTAGAT (p.Pro618Ter) c.1833_1834insTAGAT (p.Pro612Ter) | gnomAD v2 gnomAD v4 |
| 11 | g.47341184C>A | CA474218192 | MYBPC3 | c.1851G>T (p.Val617=) c.1833G>T (p.Val611=) | gnomAD v4 |
| 11 | g.47341184C= | CA1969334668 | MYBPC3 | c.1851G= (p.Val617=) c.1833G= (p.Val611=) | |
| 11 | g.47341184C>G | CA474218193 | MYBPC3 | c.1851G>C (p.Val617=) c.1833G>C (p.Val611=) | gnomAD v4 |
| 11 | g.47341184C>T | CA474218194 | MYBPC3 | c.1851G>A (p.Val617=) c.1833G>A (p.Val611=) | gnomAD v4 |
| 11 | g.47341184dup | CA913190279 | MYBPC3 | c.1851dup (p.Pro618AlafsTer20) c.1833dup (p.Pro612AlafsTer20) | ClinVar dbSNP |
| 11 | g.47341184_47341185insT | CA599374436 | MYBPC3 | c.1850_1851insA (p.Pro618AlafsTer20) c.1832_1833insA (p.Pro612AlafsTer20) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47341185A= | CA1969334671 | MYBPC3 | c.1850T= (p.Val617=) c.1832T= (p.Val611=) | |
| 11 | g.47341185A>C | CA221694135 | MYBPC3 | c.1850T>G (p.Val617Gly) c.1832T>G (p.Val611Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47341185A>G | CA380323860 | MYBPC3 | c.1850T>C (p.Val617Ala) c.1832T>C (p.Val611Ala) | ClinVar dbSNP |
| 11 | g.47341185A>T | CA380323863 | MYBPC3 | c.1850T>A (p.Val617Glu) c.1832T>A (p.Val611Glu) | |
| 11 | g.47341186C>A | CA380323867 | MYBPC3 | c.1849G>T (p.Val617Leu) c.1831G>T (p.Val611Leu) | gnomAD v4 |
| 11 | g.47341186C>G | CA380323871 | MYBPC3 | c.1849G>C (p.Val617Leu) c.1831G>C (p.Val611Leu) | |
| 11 | g.47341186C>T | CA380323870 | MYBPC3 | c.1849G>A (p.Val617Met) c.1831G>A (p.Val611Met) | gnomAD v4 |
| 11 | g.47341186_47341190delinsCAAAG | CA1969334673 | MYBPC3 | c.1845_1849delinsCTTTG (p.Ser615=) c.1827_1831delinsCTTTG (p.Ser609=) | |
| 11 | g.47341187A>C | CA380323874 | MYBPC3 | c.1848T>G (p.Phe616Leu) c.1830T>G (p.Phe610Leu) | gnomAD v4 |
| 11 | g.47341187A>G | CA474218199 | MYBPC3 | c.1848T>C (p.Phe616=) c.1830T>C (p.Phe610=) | gnomAD v4 |
| 11 | g.47341187A>T | CA380323876 | MYBPC3 | c.1848T>A (p.Phe616Leu) c.1830T>A (p.Phe610Leu) | |
| 11 | g.47341187_47341189del | CA2613398565 | MYBPC3 | c.1846_1848del (p.Phe616del) c.1828_1830del (p.Phe610del) | gnomAD v4 |
| 11 | g.47341189del | CA2613398568 | MYBPC3 | c.1848del (p.Phe616LeufsTer?) c.1830del (p.Phe610LeufsTer?) | gnomAD v4 |
| 11 | g.47341187_47341190del | CA599374437 | MYBPC3 | c.1845_1848del (p.Ser615ArgfsTer?) c.1827_1830del (p.Ser609ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47341187_47341193del | CA2613398562 | MYBPC3 | c.1842_1848del (p.Tyr614Ter) c.1824_1830del (p.Tyr608Ter) | gnomAD v4 |
| 11 | g.47341187_47341196del | CA2613398559 | MYBPC3 | c.1839_1848del (p.Asp613GlufsTer?) c.1821_1830del (p.Asp607GlufsTer?) | gnomAD v4 |
| 11 | g.47341188A>C | CA380323878 | MYBPC3 | c.1847T>G (p.Phe616Cys) c.1829T>G (p.Phe610Cys) | gnomAD v4 |
| 11 | g.47341188A>G | CA047354 | MYBPC3 | c.1847T>C (p.Phe616Ser) c.1829T>C (p.Phe610Ser) | gnomAD v4 |
| 11 | g.47341188A>T | CA380323882 | MYBPC3 | c.1847T>A (p.Phe616Tyr) c.1829T>A (p.Phe610Tyr) | |
| 11 | g.47341188_47341190del | CA2613398579 | MYBPC3 | c.1845_1847del (p.Phe616del) c.1827_1829del (p.Phe610del) | gnomAD v4 |
| 11 | g.47341188_47341193del | CA2613398581 | MYBPC3 | c.1842_1847del (p.Ser615_Phe616del) c.1824_1829del (p.Ser609_Phe610del) | gnomAD v4 |
| 11 | g.47341188_47341196del | CA2613398582 | MYBPC3 | c.1839_1847del (p.Tyr614_Phe616del) c.1821_1829del (p.Tyr608_Phe610del) | gnomAD v4 |
| 11 | g.47341188_47341208delinsAAGCTGTAGTCAGCCTCGTCG | CA1969334674 | MYBPC3 | c.1827_1847delinsCGACGAGGCTGACTACAGCTT (p.Ala609=) c.1809_1829delinsCGACGAGGCTGACTACAGCTT (p.Ala603=) | |
| 11 | g.47341189A= | CA1969334675 | MYBPC3 | c.1846T= (p.Phe616=) c.1828T= (p.Phe610=) | |
| 11 | g.47341189A>C | CA380323888 | MYBPC3 | c.1846T>G (p.Phe616Val) c.1828T>G (p.Phe610Val) | |
| 11 | g.47341189A>G | CA380323891 | MYBPC3 | c.1846T>C (p.Phe616Leu) c.1828T>C (p.Phe610Leu) | |
| 11 | g.47341189A>T | CA380323885 | MYBPC3 | c.1846T>A (p.Phe616Ile) c.1828T>A (p.Phe610Ile) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47341189_47341190del | CA2613398601 | MYBPC3 | c.1845_1846del (p.Phe616CysfsTer21) c.1827_1828del (p.Phe610CysfsTer21) | gnomAD v4 |
| 11 | g.47341189_47341191del | CA2613398602 | MYBPC3 | c.1844_1846del (p.Ser615_Phe616delinsIle) c.1826_1828del (p.Ser609_Phe610delinsIle) | gnomAD v4 |
| 11 | g.47341189_47341196del | CA2613398603 | MYBPC3 | c.1839_1846del (p.Tyr614CysfsTer21) c.1821_1828del (p.Tyr608CysfsTer21) | gnomAD v4 |
| 11 | g.47341189_47341201del | CA2613398605 | MYBPC3 | c.1834_1846del (p.Ala612LeufsTer?) c.1816_1828del (p.Ala606LeufsTer?) | gnomAD v4 |
| 11 | g.47341189_47341208delinsGCTGTA | CA658797629 | MYBPC3 | c.1827_1846delinsTACAGC (p.Asp610ThrfsTer23) c.1809_1828delinsTACAGC (p.Asp604ThrfsTer23) | ClinVar dbSNP |
| 11 | g.47341190G>A | CA474218201 | MYBPC3 | c.1845C>T (p.Ser615=) c.1827C>T (p.Ser609=) | dbSNP gnomAD v4 |
| 11 | g.47341190G>C | CA380323894 | MYBPC3 | c.1845C>G (p.Ser615Arg) c.1827C>G (p.Ser609Arg) | ClinVar |
| 11 | g.47341190G= | CA1969334676 | MYBPC3 | c.1845C= (p.Ser615=) c.1827C= (p.Ser609=) | |
| 11 | g.47341190G>T | CA380323897 | MYBPC3 | c.1845C>A (p.Ser615Arg) c.1827C>A (p.Ser609Arg) | gnomAD v4 |
| 11 | g.47341191_47341193del | CA2613398624 | MYBPC3 | c.1843_1845del (p.Ser615del) c.1825_1827del (p.Ser609del) | gnomAD v4 |
| 11 | g.47341190_47341196del | CA2613398620 | MYBPC3 | c.1839_1845del (p.Tyr614LeufsTer?) c.1821_1827del (p.Tyr608LeufsTer?) | gnomAD v4 |
| 11 | g.47341190_47341191insTA | CA2613398625 | MYBPC3 | c.1844_1845insTA (p.Phe616ThrfsTer?) c.1826_1827insTA (p.Phe610ThrfsTer?) | gnomAD v4 |
| 11 | g.47341191C>A | CA380323901 | MYBPC3 | c.1844G>T (p.Ser615Ile) c.1826G>T (p.Ser609Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47341191C= | CA1969334678 | MYBPC3 | c.1844G= (p.Ser615=) c.1826G= (p.Ser609=) | |
| 11 | g.47341191C>G | CA380323909 | MYBPC3 | c.1844G>C (p.Ser615Thr) c.1826G>C (p.Ser609Thr) | |
| 11 | g.47341191C>T | CA380323906 | MYBPC3 | c.1844G>A (p.Ser615Asn) c.1826G>A (p.Ser609Asn) | |
| 11 | g.47341192T>A | CA380323911 | MYBPC3 | c.1843A>T (p.Ser615Cys) c.1825A>T (p.Ser609Cys) | |
| 11 | g.47341192T>C | CA380323913 | MYBPC3 | c.1843A>G (p.Ser615Gly) c.1825A>G (p.Ser609Gly) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47341192T>G | CA380323917 | MYBPC3 | c.1843A>C (p.Ser615Arg) c.1825A>C (p.Ser609Arg) | |
| 11 | g.47341192T= | CA1969334679 | MYBPC3 | c.1843A= (p.Ser615=) c.1825A= (p.Ser609=) | |
| 11 | g.47341193_47341194del | CA2613398628 | MYBPC3 | c.1842_1843del (p.Tyr614Ter) c.1824_1825del (p.Tyr608Ter) | gnomAD v4 |
| 11 | g.47341193_47341197del | CA2613398630 | MYBPC3 | c.1839_1843del (p.Asp613GlufsTer23) c.1821_1825del (p.Asp607GlufsTer23) | gnomAD v4 |
| 11 | g.47341192_47341219delinsTGTAGTCAGCCTCGTCGGCAGGTGTGAC | CA1969334680 | MYBPC3 | c.1816_1843delinsGTCACACCTGCCGACGAGGCTGACTACA (p.Val606=) c.1798_1825delinsGTCACACCTGCCGACGAGGCTGACTACA (p.Val600=) | |
| 11 | g.47341192_47341193insA | CA2613398650 | MYBPC3 | c.1842_1843insT (p.Ser615Ter) c.1824_1825insT (p.Ser609Ter) | gnomAD v4 |
| 11 | g.47341193del | CA2580084220 | MYBPC3 | c.1842del (p.Tyr614Ter) c.1824del (p.Tyr608Ter) | ClinVar gnomAD v4 |
| 11 | g.47341193G>A | CA078339 | MYBPC3 | c.1842C>T (p.Tyr614=) c.1824C>T (p.Tyr608=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47341193G>C | CA380323922 | MYBPC3 | c.1842C>G (p.Tyr614Ter) c.1824C>G (p.Tyr608Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47341193G= | CA1969334682 | MYBPC3 | c.1842C= (p.Tyr614=) c.1824C= (p.Tyr608=) | |
| 11 | g.47341193G>T | CA380323925 | MYBPC3 | c.1842C>A (p.Tyr614Ter) c.1824C>A (p.Tyr608Ter) | gnomAD v4 |
| 11 | g.47341193_47341196del | CA2613398656 | MYBPC3 | c.1839_1842del (p.Asp613GlufsTer?) c.1821_1824del (p.Asp607GlufsTer?) | gnomAD v4 |
| 11 | g.47341195_47341221del | CA915948153 | MYBPC3 | c.1816_1842del (p.Val606_Tyr614del) c.1798_1824del (p.Val600_Tyr608del) | ClinVar dbSNP |
| 11 | g.47341193_47341194insCA | CA2613398683 | MYBPC3 | c.1841_1842insTG (p.Ser615AlafsTer?) c.1823_1824insTG (p.Ser609AlafsTer?) | gnomAD v4 |
| 11 | g.47341193_47341194insGC | CA2613398680 | MYBPC3 | c.1841_1842insGC (p.Tyr614Ter) c.1823_1824insGC (p.Tyr608Ter) | gnomAD v4 |
| 11 | g.47341194del | CA2613398674 | MYBPC3 | c.1841del (p.Tyr614SerfsTer?) c.1823del (p.Tyr608SerfsTer?) | gnomAD v4 |
| 11 | g.47341194T>A | CA380323928 | MYBPC3 | c.1841A>T (p.Tyr614Phe) c.1823A>T (p.Tyr608Phe) | |
| 11 | g.47341194T>C | CA011318 | MYBPC3 | c.1841A>G (p.Tyr614Cys) c.1823A>G (p.Tyr608Cys) | ClinVar dbSNP |
| 11 | g.47341194T>G | CA380323929 | MYBPC3 | c.1841A>C (p.Tyr614Ser) c.1823A>C (p.Tyr608Ser) | |
| 11 | g.47341194T= | CA1969334684 | MYBPC3 | c.1841A= (p.Tyr614=) c.1823A= (p.Tyr608=) | |
| 11 | g.47341194_47341195del | CA2613398678 | MYBPC3 | c.1840_1841del (p.Tyr614GlnfsTer23) c.1822_1823del (p.Tyr608GlnfsTer23) | gnomAD v4 |
| 11 | g.47341194_47341201del | CA2613398676 | MYBPC3 | c.1834_1841del (p.Ala612GlnfsTer23) c.1816_1823del (p.Ala606GlnfsTer23) | gnomAD v4 |
| 11 | g.47341195A>C | CA380323930 | MYBPC3 | c.1840T>G (p.Tyr614Asp) c.1822T>G (p.Tyr608Asp) | COSMIC COSMIC |
| 11 | g.47341195A>G | CA380323931 | MYBPC3 | c.1840T>C (p.Tyr614His) c.1822T>C (p.Tyr608His) | gnomAD v4 |
| 11 | g.47341195A>T | CA380323932 | MYBPC3 | c.1840T>A (p.Tyr614Asn) c.1822T>A (p.Tyr608Asn) | |
| 11 | g.47341195_47341197delinsAGT | CA1969334685 | MYBPC3 | c.1838_1840delinsACT (p.Asp613=) c.1820_1822delinsACT (p.Asp607=) | |
| 11 | g.47341195_47341200del | CA2791323304 | MYBPC3 | c.1835_1840del (p.Ala612_Tyr614delinsAsp) c.1817_1822del (p.Ala606_Tyr608delinsAsp) | |
| 11 | g.47341195_47341196insCAC | CA2613398709 | MYBPC3 | c.1839_1840insGTG (p.Asp613_Tyr614insVal) c.1821_1822insGTG (p.Asp607_Tyr608insVal) | gnomAD v4 |
| 11 | g.47341195_47341196insCACC | CA2613398711 | MYBPC3 | c.1839_1840insGGTG (p.Tyr614GlyfsTer25) c.1821_1822insGGTG (p.Tyr608GlyfsTer25) | gnomAD v4 |
| 11 | g.47341196del | CA2499220970 | MYBPC3 | c.1839del (p.Tyr614ThrfsTer?) c.1821del (p.Tyr608ThrfsTer?) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47341196G>A | CA046979 | MYBPC3 | c.1839C>T (p.Asp613=) c.1821C>T (p.Asp607=) | gnomAD v4 |
| 11 | g.47341196G>C | CA380323933 | MYBPC3 | c.1839C>G (p.Asp613Glu) c.1821C>G (p.Asp607Glu) | gnomAD v4 |
| 11 | g.47341196G= | CA1969334687 | MYBPC3 | c.1839C= (p.Asp613=) c.1821C= (p.Asp607=) | |
| 11 | g.47341196G>T | CA380323935 | MYBPC3 | c.1839C>A (p.Asp613Glu) c.1821C>A (p.Asp607Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47341196_47341197del | CA599374438 | MYBPC3 | c.1838_1839del (p.Asp613ValfsTer24) c.1820_1821del (p.Asp607ValfsTer24) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47341196_47341198del | CA2613398729 | MYBPC3 | c.1837_1839del (p.Asp613del) c.1819_1821del (p.Asp607del) | gnomAD v4 |
| 11 | g.47341196_47341202del | CA2613398733 | MYBPC3 | c.1833_1839del (p.Glu611AspfsTer?) c.1815_1821del (p.Glu605AspfsTer?) | gnomAD v4 |
| 11 | g.47341199_47341207del | CA2791323305 | MYBPC3 | c.1831_1839del (p.Glu611_Asp613del) c.1813_1821del (p.Glu605_Asp607del) | |
| 11 | g.47341196_47341197insA | CA2613398774 | MYBPC3 | c.1838_1839insT (p.Tyr614LeufsTer24) c.1820_1821insT (p.Tyr608LeufsTer24) | gnomAD v4 |
| 11 | g.47341196_47341197insGT | CA676998715 | MYBPC3 | c.1838_1839insAC (p.Asp613GlufsTer?) c.1820_1821insAC (p.Asp607GlufsTer?) | |
| 11 | g.47341197del | CA2613398756 | MYBPC3 | c.1838del (p.Asp613AlafsTer?) c.1820del (p.Asp607AlafsTer?) | gnomAD v4 |
| 11 | g.47341197T>A | CA380323939 | MYBPC3 | c.1838A>T (p.Asp613Val) c.1820A>T (p.Asp607Val) | gnomAD v4 |
| 11 | g.47341197T>C | CA380323942 | MYBPC3 | c.1838A>G (p.Asp613Gly) c.1820A>G (p.Asp607Gly) | gnomAD v4 |
| 11 | g.47341197T>G | CA380323945 | MYBPC3 | c.1838A>C (p.Asp613Ala) c.1820A>C (p.Asp607Ala) | |
| 11 | g.47341197dup | CA277833 | MYBPC3 | c.1838dup (p.Asp613GlufsTer25) c.1820dup (p.Asp607GlufsTer25) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47341197_47341201del | CA2613398765 | MYBPC3 | c.1834_1838del (p.Ala612LeufsTer24) c.1816_1820del (p.Ala606LeufsTer24) | gnomAD v4 |
| 11 | g.47341197_47341201delinsTCAGC | CA1969334689 | MYBPC3 | c.1834_1838delinsGCTGA (p.Ala612=) c.1816_1820delinsGCTGA (p.Ala606=) | |
| 11 | g.47341198C>A | CA380323948 | MYBPC3 | c.1837G>T (p.Asp613Tyr) c.1819G>T (p.Asp607Tyr) | gnomAD v4 |
| 11 | g.47341198C>G | CA380323950 | MYBPC3 | c.1837G>C (p.Asp613His) c.1819G>C (p.Asp607His) | |
| 11 | g.47341198C>T | CA380323952 | MYBPC3 | c.1837G>A (p.Asp613Asn) c.1819G>A (p.Asp607Asn) | gnomAD v4 |
| 11 | g.47341198dup | CA2613398791 | MYBPC3 | c.1837dup (p.Asp613GlyfsTer25) c.1819dup (p.Asp607GlyfsTer25) | gnomAD v4 |
| 11 | g.47341199_47341201del | CA2613398794 | MYBPC3 | c.1835_1837del (p.Ala612del) c.1817_1819del (p.Ala606del) | gnomAD v4 |
| 11 | g.47341198_47341202del | CA2613398799 | MYBPC3 | c.1833_1837del (p.Ala612LeufsTer24) c.1815_1819del (p.Ala606LeufsTer24) | gnomAD v4 |
| 11 | g.47341199_47341202del | CA599374439 | MYBPC3 | c.1834_1837del (p.Ala612ThrfsTer?) c.1816_1819del (p.Ala606ThrfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47341199del | CA2613398814 | MYBPC3 | c.1836del (p.Asp613ThrfsTer?) c.1818del (p.Asp607ThrfsTer?) | gnomAD v4 |
| 11 | g.47341199A>C | CA474218208 | MYBPC3 | c.1836T>G (p.Ala612=) c.1818T>G (p.Ala606=) | gnomAD v4 |
| 11 | g.47341199A>G | CA474218209 | MYBPC3 | c.1836T>C (p.Ala612=) c.1818T>C (p.Ala606=) | |
| 11 | g.47341199A>T | CA474218210 | MYBPC3 | c.1836T>A (p.Ala612=) c.1818T>A (p.Ala606=) | gnomAD v4 |
| 11 | g.47341199_47341200del | CA2613398817 | MYBPC3 | c.1835_1836del (p.Ala612GlyfsTer25) c.1817_1818del (p.Ala606GlyfsTer25) | gnomAD v4 |
| 11 | g.47341199_47341200insT | CA2613398854 | MYBPC3 | c.1835_1836insA (p.Asp613Ter) c.1817_1818insA (p.Asp607Ter) | gnomAD v4 |
| 11 | g.47341199_47341200insTT | CA2613398858 | MYBPC3 | c.1835_1836insAA (p.Asp613MetfsTer?) c.1817_1818insAA (p.Asp607MetfsTer?) | gnomAD v4 |
| 11 | g.47341199_47341200insCTTCTT | CA2613398849 | MYBPC3 | c.1835_1836insAAGAAG (p.Ala612_Asp613insArgSer) c.1817_1818insAAGAAG (p.Ala606_Asp607insArgSer) | gnomAD v4 |
| 11 | g.47341200del | CA2613398844 | MYBPC3 | c.1835del (p.Ala612ValfsTer?) c.1817del (p.Ala606ValfsTer?) | gnomAD v4 |
| 11 | g.47341200G>A | CA380323954 | MYBPC3 | c.1835C>T (p.Ala612Val) c.1817C>T (p.Ala606Val) | gnomAD v4 |
| 11 | g.47341200G>C | CA380323956 | MYBPC3 | c.1835C>G (p.Ala612Gly) c.1817C>G (p.Ala606Gly) | gnomAD v4 |
| 11 | g.47341200G>T | CA380323958 | MYBPC3 | c.1835C>A (p.Ala612Asp) c.1817C>A (p.Ala606Asp) | gnomAD v4 |
| 11 | g.47341200_47341201del | CA2613398846 | MYBPC3 | c.1834_1835del (p.Ala612Ter) c.1816_1817del (p.Ala606Ter) | gnomAD v4 |
| 11 | g.47341200_47341201insT | CA2613398867 | MYBPC3 | c.1834_1835insA (p.Ala612AspfsTer2) c.1816_1817insA (p.Ala606AspfsTer2) | gnomAD v4 |
| 11 | g.47341201C>A | CA380323963 | MYBPC3 | c.1834G>T (p.Ala612Ser) c.1816G>T (p.Ala606Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47341201C= | CA1969334690 | MYBPC3 | c.1834G= (p.Ala612=) c.1816G= (p.Ala606=) | |
| 11 | g.47341201C>G | CA380323962 | MYBPC3 | c.1834G>C (p.Ala612Pro) c.1816G>C (p.Ala606Pro) | gnomAD v4 |
| 11 | g.47341201C>T | CA380323961 | MYBPC3 | c.1834G>A (p.Ala612Thr) c.1816G>A (p.Ala606Thr) | gnomAD v4 |
| 11 | g.47341201_47341202del | CA2613398874 | MYBPC3 | c.1833_1834del (p.Glu611AspfsTer2) c.1815_1816del (p.Glu605AspfsTer2) | gnomAD v4 |
| 11 | g.47341202del | CA2613398873 | MYBPC3 | c.1834del (p.Ala612LeufsTer?) c.1816del (p.Ala606LeufsTer?) | gnomAD v4 |
| 11 | g.47341201_47341202insG | CA2613398906 | MYBPC3 | c.1833_1834insC (p.Ala612ArgfsTer2) c.1815_1816insC (p.Ala606ArgfsTer2) | gnomAD v4 |
| 11 | g.47341201_47341202insAT | CA2613398909 | MYBPC3 | c.1833_1834insAT (p.Ala612MetfsTer?) c.1815_1816insAT (p.Ala606MetfsTer?) | gnomAD v4 |
| 11 | g.47341201_47341202insAAT | CA2613398885 | MYBPC3 | c.1833_1834insATT (p.Glu611_Ala612insIle) c.1815_1816insATT (p.Glu605_Ala606insIle) | gnomAD v4 |
| 11 | g.47341201_47341202insACGATT | CA2613398913 | MYBPC3 | c.1833_1834insAATCGT (p.Glu611_Ala612insAsnArg) c.1815_1816insAATCGT (p.Glu605_Ala606insAsnArg) | gnomAD v4 |
| 11 | g.47341201_47341202insGAACTT | CA2613398902 | MYBPC3 | c.1833_1834insAAGTTC (p.Glu611_Ala612insLysPhe) c.1815_1816insAAGTTC (p.Glu605_Ala606insLysPhe) | gnomAD v4 |
| 11 | g.47341201_47341202insGACTCT | CA2613398898 | MYBPC3 | c.1833_1834insAGAGTC (p.Glu611_Ala612insArgVal) c.1815_1816insAGAGTC (p.Glu605_Ala606insArgVal) | gnomAD v4 |
| 11 | g.47341201_47341202insGTCTCT | CA2613398893 | MYBPC3 | c.1833_1834insAGAGAC (p.Glu611_Ala612insArgAsp) c.1815_1816insAGAGAC (p.Glu605_Ala606insArgAsp) | gnomAD v4 |
| 11 | g.47341201_47341202insTTGAAT | CA2613398888 | MYBPC3 | c.1833_1834insATTCAA (p.Glu611_Ala612insIleGln) c.1815_1816insATTCAA (p.Glu605_Ala606insIleGln) | gnomAD v4 |
| 11 | g.47341201_47341202insGGATTAA | CA2613398970 | MYBPC3 | c.1833_1834insTTAATCC (p.Ala612LeufsTer4) c.1815_1816insTTAATCC (p.Ala606LeufsTer4) | gnomAD v4 |
| 11 | g.47341201_47341202insTCCACTT | CA2613398890 | MYBPC3 | c.1833_1834insAAGTGGA (p.Ala612LysfsTer4) c.1815_1816insAAGTGGA (p.Ala606LysfsTer4) | gnomAD v4 |
| 11 | g.47341202C>A | CA380323964 | MYBPC3 | c.1833G>T (p.Glu611Asp) c.1815G>T (p.Glu605Asp) | gnomAD v4 |
| 11 | g.47341202C= | CA1969334692 | MYBPC3 | c.1833G= (p.Glu611=) c.1815G= (p.Glu605=) | |
| 11 | g.47341202C>G | CA380323965 | MYBPC3 | c.1833G>C (p.Glu611Asp) c.1815G>C (p.Glu605Asp) | |
| 11 | g.47341202C>T | CA078337 | MYBPC3 | c.1833G>A (p.Glu611=) c.1815G>A (p.Glu605=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47341204_47341205insTAACTC | CA2613398907 | MYBPC3 | c.1833_1834insTTAGAG (p.Glu611_Ala612insLeuGlu) c.1815_1816insTTAGAG (p.Glu605_Ala606insLeuGlu) | gnomAD v4 |
| 11 | g.47341202_47341203insGA | CA2613399017 | MYBPC3 | c.1832_1833insTC (p.Glu611AspfsTer?) c.1814_1815insTC (p.Glu605AspfsTer?) | gnomAD v4 |
| 11 | g.47341202_47341203insAACTAA | CA2613399022 | MYBPC3 | c.1832_1833insTTAGTT (p.Glu611AspfsTer2) c.1814_1815insTTAGTT (p.Glu605AspfsTer2) | gnomAD v4 |
| 11 | g.47341202_47341203insATCACA | CA2613399021 | MYBPC3 | c.1832_1833insTGTGAT (p.Glu611delinsAspValMet) c.1814_1815insTGTGAT (p.Glu605delinsAspValMet) | gnomAD v4 |
| 11 | g.47341203T>A | CA380323966 | MYBPC3 | c.1832A>T (p.Glu611Val) c.1814A>T (p.Glu605Val) | |
| 11 | g.47341203T>C | CA380323967 | MYBPC3 | c.1832A>G (p.Glu611Gly) c.1814A>G (p.Glu605Gly) | ClinVar dbSNP |
| 11 | g.47341203T>G | CA380323968 | MYBPC3 | c.1832A>C (p.Glu611Ala) c.1814A>C (p.Glu605Ala) | |
| 11 | g.47341203_47341204insAT | CA2791323306 | MYBPC3 | c.1832_1833insTA (p.Glu611AspfsTer?) c.1814_1815insTA (p.Glu605AspfsTer?) | |
| 11 | g.47341203_47341204insAAT | CA2613398995 | MYBPC3 | c.1832_1833insTTA (p.Glu611AspfsTer2) c.1814_1815insTTA (p.Glu605AspfsTer2) | gnomAD v4 |
| 11 | g.47341203_47341204insTAAT | CA2613399001 | MYBPC3 | c.1832_1833insTTAA (p.Glu611AspfsTer2) c.1814_1815insTTAA (p.Glu605AspfsTer2) | gnomAD v4 |
| 11 | g.47341203_47341204insACATTGT | CA2613399003 | MYBPC3 | c.1832_1833insCAATGTA (p.Glu611AspfsTer5) c.1814_1815insCAATGTA (p.Glu605AspfsTer5) | gnomAD v4 |
| 11 | g.47341203dup | CA2613399005 | MYBPC3 | c.1832dup (p.Ala612GlyfsTer2) c.1814dup (p.Ala606GlyfsTer2) | gnomAD v4 |
| 11 | g.47341206_47341208del | CA2580615683 | MYBPC3 | c.1830_1832del (p.Asp610del) c.1812_1814del (p.Asp604del) | ClinVar dbSNP |
| 11 | g.47341204C>A | CA380323969 | MYBPC3 | c.1831G>T (p.Glu611Ter) c.1813G>T (p.Glu605Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47341204C= | CA1969334693 | MYBPC3 | c.1831G= (p.Glu611=) c.1813G= (p.Glu605=) | |
| 11 | g.47341204C>G | CA380323970 | MYBPC3 | c.1831G>C (p.Glu611Gln) c.1813G>C (p.Glu605Gln) | |
| 11 | g.47341204C>T | CA011308 | MYBPC3 | c.1831G>A (p.Glu611Lys) c.1813G>A (p.Glu605Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47341204_47341212delinsCGTCGGCAG | CA1969334694 | MYBPC3 | c.1823_1831delinsCTGCCGACG (p.Pro608=) c.1805_1813delinsCTGCCGACG (p.Pro602=) | |
| 11 | g.47341205G>A | CA078334 | MYBPC3 | c.1830C>T (p.Asp610=) c.1812C>T (p.Asp604=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47341205G>C | CA380323971 | MYBPC3 | c.1830C>G (p.Asp610Glu) c.1812C>G (p.Asp604Glu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47341205G= | CA1969334697 | MYBPC3 | c.1830C= (p.Asp610=) c.1812C= (p.Asp604=) | |
| 11 | g.47341205G>T | CA380323972 | MYBPC3 | c.1830C>A (p.Asp610Glu) c.1812C>A (p.Asp604Glu) | dbSNP |
| 11 | g.47341205_47341212delinsT | CA645372896 | MYBPC3 | c.1823_1830delinsA (p.Pro608GlnfsTer?) c.1805_1812delinsA (p.Pro602GlnfsTer?) | ClinVar dbSNP |
| 11 | g.47341206T>A | CA011292 | MYBPC3 | c.1829A>T (p.Asp610Val) c.1811A>T (p.Asp604Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47341206T>C | CA380323973 | MYBPC3 | c.1829A>G (p.Asp610Gly) c.1811A>G (p.Asp604Gly) | |
| 11 | g.47341206T>G | CA380323974 | MYBPC3 | c.1829A>C (p.Asp610Ala) c.1811A>C (p.Asp604Ala) | |
| 11 | g.47341206T= | CA1969334701 | MYBPC3 | c.1829A= (p.Asp610=) c.1811A= (p.Asp604=) | |
| 11 | g.47341207del | CA2697548577 | MYBPC3 | c.1828del (p.Asp610ThrfsTer?) c.1810del (p.Asp604ThrfsTer?) | ClinVar |
| 11 | g.47341207C>A | CA380323975 | MYBPC3 | c.1828G>T (p.Asp610Tyr) c.1810G>T (p.Asp604Tyr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47341207C= | CA1969334703 | MYBPC3 | c.1828G= (p.Asp610=) c.1810G= (p.Asp604=) | |
| 11 | g.47341207C>G | CA011286 | MYBPC3 | c.1828G>C (p.Asp610His) c.1810G>C (p.Asp604His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47341207C>T | CA011276 | MYBPC3 | c.1828G>A (p.Asp610Asn) c.1810G>A (p.Asp604Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47341208G>A | CA046957 | MYBPC3 | c.1827C>T (p.Ala609=) c.1809C>T (p.Ala603=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47341208G>C | CA078328 | MYBPC3 | c.1827C>G (p.Ala609=) c.1809C>G (p.Ala603=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47341208G= | CA1969334706 | MYBPC3 | c.1827C= (p.Ala609=) c.1809C= (p.Ala603=) | |
| 11 | g.47341208G>T | CA474218212 | MYBPC3 | c.1827C>A (p.Ala609=) c.1809C>A (p.Ala603=) | gnomAD v4 |
| 11 | g.47341209dup | CA2695212780 | MYBPC3 | c.1827dup (p.Asp610ArgfsTer4) c.1809dup (p.Asp604ArgfsTer4) | |
| 11 | g.47341209G>A | CA011267 | MYBPC3 | c.1826C>T (p.Ala609Val) c.1808C>T (p.Ala603Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47341209G>C | CA380323976 | MYBPC3 | c.1826C>G (p.Ala609Gly) c.1808C>G (p.Ala603Gly) | |
| 11 | g.47341209G= | CA1969334709 | MYBPC3 | c.1826C= (p.Ala609=) c.1808C= (p.Ala603=) | |
| 11 | g.47341209G>T | CA380323977 | MYBPC3 | c.1826C>A (p.Ala609Asp) c.1808C>A (p.Ala603Asp) | |
| 11 | g.47341210C>A | CA380323978 | MYBPC3 | c.1825G>T (p.Ala609Ser) c.1807G>T (p.Ala603Ser) | |
| 11 | g.47341210C>G | CA046947 | MYBPC3 | c.1825G>C (p.Ala609Pro) c.1807G>C (p.Ala603Pro) | |
| 11 | g.47341210C>T | CA046933 | MYBPC3 | c.1825G>A (p.Ala609Thr) c.1807G>A (p.Ala603Thr) | gnomAD v4 |
| 11 | g.47341211A>C | CA474218216 | MYBPC3 | c.1824T>G (p.Pro608=) c.1806T>G (p.Pro602=) | |
| 11 | g.47341211A>G | CA474218217 | MYBPC3 | c.1824T>C (p.Pro608=) c.1806T>C (p.Pro602=) | ClinVar dbSNP |
| 11 | g.47341211A>T | CA474218218 | MYBPC3 | c.1824T>A (p.Pro608=) c.1806T>A (p.Pro602=) | gnomAD v4 |
| 11 | g.47341212G>A | CA046897 | MYBPC3 | c.1823C>T (p.Pro608Leu) c.1805C>T (p.Pro602Leu) | dbSNP |
| 11 | g.47341212G>C | CA078324 | MYBPC3 | c.1823C>G (p.Pro608Arg) c.1805C>G (p.Pro602Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47341212G= | CA1969334711 | MYBPC3 | c.1823C= (p.Pro608=) c.1805C= (p.Pro602=) | |
| 11 | g.47341212G>T | CA380323979 | MYBPC3 | c.1823C>A (p.Pro608His) c.1805C>A (p.Pro602His) | |
| 11 | g.47341213G>A | CA011258 | MYBPC3 | c.1822C>T (p.Pro608Ser) c.1804C>T (p.Pro602Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47341213G>C | CA380323980 | MYBPC3 | c.1822C>G (p.Pro608Ala) c.1804C>G (p.Pro602Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47341213G= | CA1969334714 | MYBPC3 | c.1822C= (p.Pro608=) c.1804C= (p.Pro602=) | |
| 11 | g.47341213G>T | CA380323981 | MYBPC3 | c.1822C>A (p.Pro608Thr) c.1804C>A (p.Pro602Thr) | gnomAD v4 |
| 11 | g.47341216_47341217del | CA2580615684 | MYBPC3 | c.1821_1822del (p.Pro608CysfsTer5) c.1803_1804del (p.Pro602CysfsTer5) | ClinVar dbSNP |
| 11 | g.47341214T>A | CA474218220 | MYBPC3 | c.1821A>T (p.Thr607=) c.1803A>T (p.Thr601=) | |
| 11 | g.47341214T>C | CA078320 | MYBPC3 | c.1821A>G (p.Thr607=) c.1803A>G (p.Thr601=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47341214T>G | CA474218221 | MYBPC3 | c.1821A>C (p.Thr607=) c.1803A>C (p.Thr601=) | dbSNP |
| 11 | g.47341214T= | CA1969334718 | MYBPC3 | c.1821A= (p.Thr607=) c.1803A= (p.Thr601=) | |
| 11 | g.47341216_47341229del | CA2580084222 | MYBPC3 | c.1808_1821del (p.Ile603ThrfsTer6) c.1790_1803del (p.Ile597ThrfsTer6) | ClinVar |
| 11 | g.47341215G>A | CA078317 | MYBPC3 | c.1820C>T (p.Thr607Ile) c.1802C>T (p.Thr601Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47341215G>C | CA046882 | MYBPC3 | c.1820C>G (p.Thr607Arg) c.1802C>G (p.Thr601Arg) | |
| 11 | g.47341215G= | CA1969334719 | MYBPC3 | c.1820C= (p.Thr607=) c.1802C= (p.Thr601=) | |
| 11 | g.47341215G>T | CA380323982 | MYBPC3 | c.1820C>A (p.Thr607Lys) c.1802C>A (p.Thr601Lys) | |
| 11 | g.47341216T>A | CA380323983 | MYBPC3 | c.1819A>T (p.Thr607Ser) c.1801A>T (p.Thr601Ser) | ClinVar dbSNP |
| 11 | g.47341216T>C | CA380323984 | MYBPC3 | c.1819A>G (p.Thr607Ala) c.1801A>G (p.Thr601Ala) | gnomAD v4 |
| 11 | g.47341216T>G | CA380323985 | MYBPC3 | c.1819A>C (p.Thr607Pro) c.1801A>C (p.Thr601Pro) | |
| 11 | g.47341216T= | CA1969334721 | MYBPC3 | c.1819A= (p.Thr607=) c.1801A= (p.Thr601=) | |
| 11 | g.47341217G>A | CA474218225 | MYBPC3 | c.1818C>T (p.Val606=) c.1800C>T (p.Val600=) | |
| 11 | g.47341217G>C | CA474218226 | MYBPC3 | c.1818C>G (p.Val606=) c.1800C>G (p.Val600=) | |
| 11 | g.47341217G>T | CA474218227 | MYBPC3 | c.1818C>A (p.Val606=) c.1800C>A (p.Val600=) | |
| 11 | g.47341218A= | CA1969334722 | MYBPC3 | c.1817T= (p.Val606=) c.1799T= (p.Val600=) | |
| 11 | g.47341218A>C | CA380323986 | MYBPC3 | c.1817T>G (p.Val606Gly) c.1799T>G (p.Val600Gly) | |
| 11 | g.47341218A>G | CA380323987 | MYBPC3 | c.1817T>C (p.Val606Ala) c.1799T>C (p.Val600Ala) | dbSNP gnomAD v4 |
| 11 | g.47341218A>T | CA380323988 | MYBPC3 | c.1817T>A (p.Val606Asp) c.1799T>A (p.Val600Asp) | |
| 11 | g.47341218_47341221delinsACGT | CA1969334723 | MYBPC3 | c.1814_1817delinsACGT (p.Asp605=) c.1796_1799delinsACGT (p.Asp599=) | |
| 11 | g.47341219C>A | CA380323994 | MYBPC3 | c.1816G>T (p.Val606Phe) c.1798G>T (p.Val600Phe) | gnomAD v4 |
| 11 | g.47341219C= | CA1969334725 | MYBPC3 | c.1816G= (p.Val606=) c.1798G= (p.Val600=) | |
| 11 | g.47341219C>G | CA380323990 | MYBPC3 | c.1816G>C (p.Val606Leu) c.1798G>C (p.Val600Leu) | |
| 11 | g.47341219C>T | CA011251 | MYBPC3 | c.1816G>A (p.Val606Ile) c.1798G>A (p.Val600Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47341223_47341225del | CA011234 | MYBPC3 | c.1814_1816del (p.Asp605del) c.1796_1798del (p.Asp599del) | ClinVar dbSNP |
| 11 | g.47341219_47341220insATTGA | CA2613399319 | MYBPC3 | c.1815_1816insTCAAT (p.Val606SerfsTer?) c.1797_1798insTCAAT (p.Val600SerfsTer?) | gnomAD v4 |
| 11 | g.47341220G>A | CA078314 | MYBPC3 | c.1815C>T (p.Asp605=) c.1797C>T (p.Asp599=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47341220G>C | CA380323996 | MYBPC3 | c.1815C>G (p.Asp605Glu) c.1797C>G (p.Asp599Glu) | |
| 11 | g.47341220G= | CA1969334728 | MYBPC3 | c.1815C= (p.Asp605=) c.1797C= (p.Asp599=) | |
| 11 | g.47341220G>T | CA380323998 | MYBPC3 | c.1815C>A (p.Asp605Glu) c.1797C>A (p.Asp599Glu) | |
| 11 | g.47341221T>A | CA380324000 | MYBPC3 | c.1814A>T (p.Asp605Val) c.1796A>T (p.Asp599Val) | |
| 11 | g.47341221T>C | CA011239 | MYBPC3 | c.1814A>G (p.Asp605Gly) c.1796A>G (p.Asp599Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47341221T>G | CA380324003 | MYBPC3 | c.1814A>C (p.Asp605Ala) c.1796A>C (p.Asp599Ala) | |
| 11 | g.47341221T= | CA1969334732 | MYBPC3 | c.1814A= (p.Asp605=) c.1796A= (p.Asp599=) | |
| 11 | g.47341222C>A | CA380324006 | MYBPC3 | c.1813G>T (p.Asp605Tyr) c.1795G>T (p.Asp599Tyr) | gnomAD v4 |
| 11 | g.47341222C= | CA1969334735 | MYBPC3 | c.1813G= (p.Asp605=) c.1795G= (p.Asp599=) | |
| 11 | g.47341222C>G | CA380324008 | MYBPC3 | c.1813G>C (p.Asp605His) c.1795G>C (p.Asp599His) | |
| 11 | g.47341222C>T | CA011225 | MYBPC3 | c.1813G>A (p.Asp605Asn) c.1795G>A (p.Asp599Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47341222_47341223dup | CA5975372 | MYBPC3 | c.1812_1813dup (p.Asp605AlafsTer?) c.1794_1795dup (p.Asp599AlafsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47341223G>A | CA011214 | MYBPC3 | c.1812C>T (p.Asp604=) c.1794C>T (p.Asp598=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47341223G>C | CA380324012 | MYBPC3 | c.1812C>G (p.Asp604Glu) c.1794C>G (p.Asp598Glu) | |
| 11 | g.47341223G= | CA1969334737 | MYBPC3 | c.1812C= (p.Asp604=) c.1794C= (p.Asp598=) | |
| 11 | g.47341223G>T | CA380324009 | MYBPC3 | c.1812C>A (p.Asp604Glu) c.1794C>A (p.Asp598Glu) | gnomAD v4 |
| 11 | g.47341224T>A | CA380324014 | MYBPC3 | c.1811A>T (p.Asp604Val) c.1793A>T (p.Asp598Val) | dbSNP |
| 11 | g.47341224T>C | CA046789 | MYBPC3 | c.1811A>G (p.Asp604Gly) c.1793A>G (p.Asp598Gly) | gnomAD v4 |
| 11 | g.47341224T>G | CA380324017 | MYBPC3 | c.1811A>C (p.Asp604Ala) c.1793A>C (p.Asp598Ala) | |
| 11 | g.47341224T= | CA1969334739 | MYBPC3 | c.1811A= (p.Asp604=) c.1793A= (p.Asp598=) | |
| 11 | g.47341225C>A | CA380324020 | MYBPC3 | c.1810G>T (p.Asp604Tyr) c.1792G>T (p.Asp598Tyr) | gnomAD v4 |
| 11 | g.47341225C>G | CA380324021 | MYBPC3 | c.1810G>C (p.Asp604His) c.1792G>C (p.Asp598His) | |
| 11 | g.47341225C>T | CA046766 | MYBPC3 | c.1810G>A (p.Asp604Asn) c.1792G>A (p.Asp598Asn) | gnomAD v4 |
| 11 | g.47341225_47341226delinsCA | CA1969334740 | MYBPC3 | c.1809_1810delinsTG (p.Ile603=) c.1791_1792delinsTG (p.Ile597=) | |
| 11 | g.47341226A= | CA1969334742 | MYBPC3 | c.1809T= (p.Ile603=) c.1791T= (p.Ile597=) | |
| 11 | g.47341226A>C | CA078307 | MYBPC3 | c.1809T>G (p.Ile603Met) c.1791T>G (p.Ile597Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47341226A>G | CA474218239 | MYBPC3 | c.1809T>C (p.Ile603=) c.1791T>C (p.Ile597=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47341226A>T | CA474218240 | MYBPC3 | c.1809T>A (p.Ile603=) c.1791T>A (p.Ile597=) | |
| 11 | g.47341227del | CA16619340 | MYBPC3 | c.1809del (p.Ile603MetfsTer?) c.1791del (p.Ile597MetfsTer?) | ClinVar dbSNP |
| 11 | g.47341227A= | CA1969334745 | MYBPC3 | c.1808T= (p.Ile603=) c.1790T= (p.Ile597=) | |
| 11 | g.47341227A>C | CA380324025 | MYBPC3 | c.1808T>G (p.Ile603Ser) c.1790T>G (p.Ile597Ser) | |
| 11 | g.47341227A>G | CA011205 | MYBPC3 | c.1808T>C (p.Ile603Thr) c.1790T>C (p.Ile597Thr) | ClinVar dbSNP |
| 11 | g.47341227A>T | CA380324027 | MYBPC3 | c.1808T>A (p.Ile603Asn) c.1790T>A (p.Ile597Asn) | |
| 11 | g.47341227_47341228insATC | CA2697548578 | MYBPC3 | c.1807_1808insGAT (p.Ile603delinsArgPhe) c.1789_1790insGAT (p.Ile597delinsArgPhe) | ClinVar |
| 11 | g.47341228T>A | CA380324030 | MYBPC3 | c.1807A>T (p.Ile603Phe) c.1789A>T (p.Ile597Phe) | |
| 11 | g.47341228T>C | CA380324032 | MYBPC3 | c.1807A>G (p.Ile603Val) c.1789A>G (p.Ile597Val) | |
| 11 | g.47341228T>G | CA380324034 | MYBPC3 | c.1807A>C (p.Ile603Leu) c.1789A>C (p.Ile597Leu) | |
| 11 | g.47341228_47341229delinsTG | CA1969334746 | MYBPC3 | c.1806_1807delinsCA (p.Thr602=) c.1788_1789delinsCA (p.Thr596=) | |
| 11 | g.47341229G>A | CA474218254 | MYBPC3 | c.1806C>T (p.Thr602=) c.1788C>T (p.Thr596=) | gnomAD v4 |
| 11 | g.47341229G>C | CA474218257 | MYBPC3 | c.1806C>G (p.Thr602=) c.1788C>G (p.Thr596=) | gnomAD v4 |
| 11 | g.47341229G= | CA1969334749 | MYBPC3 | c.1806C= (p.Thr602=) c.1788C= (p.Thr596=) | |
| 11 | g.47341229G>T | CA078304 | MYBPC3 | c.1806C>A (p.Thr602=) c.1788C>A (p.Thr596=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47341230del | CA011196 | MYBPC3 | c.1806del (p.Ile603LeufsTer?) c.1788del (p.Ile597LeufsTer?) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47341230G>A | CA011188 | MYBPC3 | c.1805C>T (p.Thr602Ile) c.1787C>T (p.Thr596Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47341230G>C | CA380324038 | MYBPC3 | c.1805C>G (p.Thr602Ser) c.1787C>G (p.Thr596Ser) | |
| 11 | g.47341230G= | CA1969334752 | MYBPC3 | c.1805C= (p.Thr602=) c.1787C= (p.Thr596=) | |
| 11 | g.47341230G>T | CA380324040 | MYBPC3 | c.1805C>A (p.Thr602Asn) c.1787C>A (p.Thr596Asn) | |
| 11 | g.47341231T>A | CA380324042 | MYBPC3 | c.1804A>T (p.Thr602Ser) c.1786A>T (p.Thr596Ser) | |
| 11 | g.47341231T>C | CA380324044 | MYBPC3 | c.1804A>G (p.Thr602Ala) c.1786A>G (p.Thr596Ala) | gnomAD v4 |
| 11 | g.47341231T>G | CA380324046 | MYBPC3 | c.1804A>C (p.Thr602Pro) c.1786A>C (p.Thr596Pro) | |
| 11 | g.47341232C>A | CA474218266 | MYBPC3 | c.1803G>T (p.Leu601=) c.1785G>T (p.Leu595=) | gnomAD v4 |
| 11 | g.47341232C= | CA1969334753 | MYBPC3 | c.1803G= (p.Leu601=) c.1785G= (p.Leu595=) | |
| 11 | g.47341232C>G | CA474218264 | MYBPC3 | c.1803G>C (p.Leu601=) c.1785G>C (p.Leu595=) | |
| 11 | g.47341232C>T | CA011180 | MYBPC3 | c.1803G>A (p.Leu601=) c.1785G>A (p.Leu595=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47341233A>C | CA380324049 | MYBPC3 | c.1802T>G (p.Leu601Arg) c.1784T>G (p.Leu595Arg) | |
| 11 | g.47341233A>G | CA380324052 | MYBPC3 | c.1802T>C (p.Leu601Pro) c.1784T>C (p.Leu595Pro) | gnomAD v4 |
| 11 | g.47341233A>T | CA380324051 | MYBPC3 | c.1802T>A (p.Leu601Gln) c.1784T>A (p.Leu595Gln) | |
| 11 | g.47341234G>A | CA474218271 | MYBPC3 | c.1801C>T (p.Leu601=) c.1783C>T (p.Leu595=) | gnomAD v4 |
| 11 | g.47341234G>C | CA380324054 | MYBPC3 | c.1801C>G (p.Leu601Val) c.1783C>G (p.Leu595Val) | |
| 11 | g.47341234G>T | CA380324056 | MYBPC3 | c.1801C>A (p.Leu601Met) c.1783C>A (p.Leu595Met) | gnomAD v4 |
| 11 | g.47341234_47341235delinsGT | CA1969334755 | MYBPC3 | c.1800_1801delinsAC (p.Lys600=) c.1782_1783delinsAC (p.Lys594=) | |
| 11 | g.47341235T>A | CA380324057 | MYBPC3 | c.1800A>T (p.Lys600Asn) c.1782A>T (p.Lys594Asn) | |
| 11 | g.47341235T>C | CA474218294 | MYBPC3 | c.1800A>G (p.Lys600=) c.1782A>G (p.Lys594=) | |
| 11 | g.47341235T>G | CA380324059 | MYBPC3 | c.1800A>C (p.Lys600Asn) c.1782A>C (p.Lys594Asn) | |
| 11 | g.47341237del | CA011173 | MYBPC3 | c.1800del (p.Lys600AsnfsTer2) c.1782del (p.Lys594AsnfsTer2) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47341236T>A | CA380324065 | MYBPC3 | c.1799A>T (p.Lys600Ile) c.1781A>T (p.Lys594Ile) | |
| 11 | g.47341236T>C | CA380324067 | MYBPC3 | c.1799A>G (p.Lys600Arg) c.1781A>G (p.Lys594Arg) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47341236T>G | CA380324063 | MYBPC3 | c.1799A>C (p.Lys600Thr) c.1781A>C (p.Lys594Thr) | ClinVar |
| 11 | g.47341237T>A | CA380324071 | MYBPC3 | c.1798A>T (p.Lys600Ter) c.1780A>T (p.Lys594Ter) | |
| 11 | g.47341237T>C | CA380324069 | MYBPC3 | c.1798A>G (p.Lys600Glu) c.1780A>G (p.Lys594Glu) | gnomAD v4 |
| 11 | g.47341237T>G | CA380324073 | MYBPC3 | c.1798A>C (p.Lys600Gln) c.1780A>C (p.Lys594Gln) | |
| 11 | g.47341238del | CA2695212781 | MYBPC3 | c.1797del (p.His599GlnfsTer3) c.1779del (p.His593GlnfsTer3) | |
| 11 | g.47341238G>A | CA474218303 | MYBPC3 | c.1797C>T (p.His599=) c.1779C>T (p.His593=) | dbSNP gnomAD v2 |
| 11 | g.47341238G>C | CA380324075 | MYBPC3 | c.1797C>G (p.His599Gln) c.1779C>G (p.His593Gln) | gnomAD v4 |
| 11 | g.47341238G= | CA1969334758 | MYBPC3 | c.1797C= (p.His599=) c.1779C= (p.His593=) | |
| 11 | g.47341238G>T | CA380324077 | MYBPC3 | c.1797C>A (p.His599Gln) c.1779C>A (p.His593Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47341239T>A | CA380324079 | MYBPC3 | c.1796A>T (p.His599Leu) c.1778A>T (p.His593Leu) | |
| 11 | g.47341239T>C | CA380324081 | MYBPC3 | c.1796A>G (p.His599Arg) c.1778A>G (p.His593Arg) | |
| 11 | g.47341239T>G | CA380324083 | MYBPC3 | c.1796A>C (p.His599Pro) c.1778A>C (p.His593Pro) | |
| 11 | g.47341240G>A | CA380324085 | MYBPC3 | c.1795C>T (p.His599Tyr) c.1777C>T (p.His593Tyr) | gnomAD v4 |
| 11 | g.47341240G>C | CA380324087 | MYBPC3 | c.1795C>G (p.His599Asp) c.1777C>G (p.His593Asp) | |
| 11 | g.47341240G>T | CA380324088 | MYBPC3 | c.1795C>A (p.His599Asn) c.1777C>A (p.His593Asn) | |
| 11 | g.47341241del | CA2613399573 | MYBPC3 | c.1795del (p.His599ThrfsTer3) c.1777del (p.His593ThrfsTer3) | gnomAD v4 |
| 11 | g.47341241G>A | CA474218318 | MYBPC3 | c.1794C>T (p.Val598=) c.1776C>T (p.Val592=) | |
| 11 | g.47341241G>C | CA474218321 | MYBPC3 | c.1794C>G (p.Val598=) c.1776C>G (p.Val592=) | |
| 11 | g.47341241G>T | CA474218322 | MYBPC3 | c.1794C>A (p.Val598=) c.1776C>A (p.Val592=) | gnomAD v4 |
| 11 | g.47341242A>C | CA380324090 | MYBPC3 | c.1793T>G (p.Val598Gly) c.1775T>G (p.Val592Gly) | |
| 11 | g.47341242A>G | CA380324092 | MYBPC3 | c.1793T>C (p.Val598Ala) c.1775T>C (p.Val592Ala) | gnomAD v4 |
| 11 | g.47341242A>T | CA380324094 | MYBPC3 | c.1793T>A (p.Val598Asp) c.1775T>A (p.Val592Asp) | gnomAD v4 |
| 11 | g.47341242_47341243delinsAC | CA1969334760 | MYBPC3 | c.1792_1793delinsGT (p.Val598=) c.1774_1775delinsGT (p.Val592=) | |
| 11 | g.47341243C>A | CA380324102 | MYBPC3 | c.1792G>T (p.Val598Phe) c.1774G>T (p.Val592Phe) | gnomAD v4 |
| 11 | g.47341243C= | CA1969334761 | MYBPC3 | c.1792G= (p.Val598=) c.1774G= (p.Val592=) | |
| 11 | g.47341243C>G | CA380324100 | MYBPC3 | c.1792G>C (p.Val598Leu) c.1774G>C (p.Val592Leu) | |
| 11 | g.47341243C>T | CA380324096 | MYBPC3 | c.1792G>A (p.Val598Ile) c.1774G>A (p.Val592Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47341245del | CA011164 | MYBPC3 | c.1792del c.1774del | ClinVar dbSNP |
| 11 | g.47341244C>A | CA474218331 | MYBPC3 | c.1791G>T (p.Arg597=) c.1773G>T (p.Arg591=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47341244C= | CA1969334763 | MYBPC3 | c.1791G= (p.Arg597=) c.1773G= (p.Arg591=) | |
| 11 | g.47341244C>G | CA078301 | MYBPC3 | c.1791G>C (p.Arg597=) c.1773G>C (p.Arg591=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47341244C>T | CA474218329 | MYBPC3 | c.1791G>A (p.Arg597=) c.1773G>A (p.Arg591=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47341245C>A | CA380324107 | MYBPC3 | c.1791-1G>T (n.1791-1G>T) c.1773-1G>T (n.1773-1G>T) | gnomAD v4 |
| 11 | g.47341245C>G | CA380324108 | MYBPC3 | c.1791-1G>C (n.1791-1G>C) c.1773-1G>C (n.1773-1G>C) | |
| 11 | g.47341245C>T | CA380324110 | MYBPC3 | c.1791-1G>A (n.1791-1G>A) c.1773-1G>A (n.1773-1G>A) | ClinVar dbSNP |
| 11 | g.47341246del | CA2573332630 | MYBPC3 | c.1791-2del (n.1791-2del) c.1773-2del (n.1773-2del) | ClinVar |
| 11 | g.47341246T>A | CA380324113 | MYBPC3 | c.1791-2A>T (n.1791-2A>T) c.1773-2A>T (n.1773-2A>T) | gnomAD v4 |
| 11 | g.47341246T>C | CA380324115 | MYBPC3 | c.1791-2A>G (n.1791-2A>G) c.1773-2A>G (n.1773-2A>G) | gnomAD v4 |
| 11 | g.47341246T>G | CA011151 | MYBPC3 | c.1791-2A>C (n.1791-2A>C) c.1773-2A>C (n.1773-2A>C) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47341246T= | CA1969334766 | MYBPC3 | c.1791-2A= (n.1791-2A=) c.1773-2A= (n.1773-2A=) | |
| 11 | g.47341247G>A | CA2613399670 | MYBPC3 | c.1791-3C>T (n.1791-3C>T) c.1773-3C>T (n.1773-3C>T) | gnomAD v4 |
| 11 | g.47341247G>T | CA2613399675 | MYBPC3 | c.1791-3C>A (n.1791-3C>A) c.1773-3C>A (n.1773-3C>A) | gnomAD v4 |
| 11 | g.47341248C>A | CA2613399678 | MYBPC3 | c.1791-4G>T (n.1791-4G>T) c.1773-4G>T (n.1773-4G>T) | gnomAD v4 |
| 11 | g.47341248C>T | CA2613399679 | MYBPC3 | c.1791-4G>A (n.1791-4G>A) c.1773-4G>A (n.1773-4G>A) | gnomAD v4 |
| 11 | g.47341248_47341249insCCG | CA2791323310 | MYBPC3 | c.1791-5_1791-4insCGG (n.1791-5_1791-4insCGG) c.1773-5_1773-4insCGG (n.1773-5_1773-4insCGG) | |
| 11 | g.47341249A>C | CA2573147068 | MYBPC3 | c.1791-5T>G (n.1791-5T>G) c.1773-5T>G (n.1773-5T>G) | ClinVar dbSNP |
| 11 | g.47341249A>G | CA2613399680 | MYBPC3 | c.1791-5T>C (n.1791-5T>C) c.1773-5T>C (n.1773-5T>C) | gnomAD v4 |
| 11 | g.47341249_47341250insT | CA2791323311 | MYBPC3 | c.1791-6_1791-5insA (n.1791-6_1791-5insA) c.1773-6_1773-5insA (n.1773-6_1773-5insA) | |
| 11 | g.47341250G>A | CA2613399690 | MYBPC3 | c.1791-6C>T (n.1791-6C>T) c.1773-6C>T (n.1773-6C>T) | gnomAD v4 |
| 11 | g.47341250G>T | CA2613399694 | MYBPC3 | c.1791-6C>A (n.1791-6C>A) c.1773-6C>A (n.1773-6C>A) | gnomAD v4 |
| 11 | g.47341253del | CA2613399684 | MYBPC3 | c.1791-6del (n.1791-6del) c.1773-6del (n.1773-6del) | gnomAD v4 |
| 11 | g.47341250_47341251insT | CA2791323312 | MYBPC3 | c.1791-7_1791-6insA (n.1791-7_1791-6insA) c.1773-7_1773-6insA (n.1773-7_1773-6insA) | |
| 11 | g.47341251G>A | CA2574815863 | MYBPC3 | c.1791-7C>T (n.1791-7C>T) c.1773-7C>T (n.1773-7C>T) | |
| 11 | g.47341251G>C | CA913187802 | MYBPC3 | c.1791-7C>G (n.1791-7C>G) c.1773-7C>G (n.1773-7C>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47341251G= | CA1969334768 | MYBPC3 | c.1791-7C= (n.1791-7C=) c.1773-7C= (n.1773-7C=) | |
| 11 | g.47341251G>T | CA2613399717 | MYBPC3 | c.1791-7C>A (n.1791-7C>A) c.1773-7C>A (n.1773-7C>A) | gnomAD v4 |
| 11 | g.47341252G>A | CA658797630 | MYBPC3 | c.1791-8C>T (n.1791-8C>T) c.1773-8C>T (n.1773-8C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47341252G= | CA1969334770 | MYBPC3 | c.1791-8C= (n.1791-8C=) c.1773-8C= (n.1773-8C=) | |
| 11 | g.47341252G>T | CA2613399731 | MYBPC3 | c.1791-8C>A (n.1791-8C>A) c.1773-8C>A (n.1773-8C>A) | gnomAD v4 |
| 11 | g.47341252_47341254delinsAGG | CA10576890 | MYBPC3 | c.1791-10_1791-8delinsCCT (n.1791-10_1791-8delinsCCT) c.1773-10_1773-8delinsCCT (n.1773-10_1773-8delinsCCT) | ClinVar dbSNP |
| 11 | g.47341252_47341254delinsGGA | CA1969334771 | MYBPC3 | c.1791-10_1791-8delinsTCC (n.1791-10_1791-8delinsTCC) c.1773-10_1773-8delinsTCC (n.1773-10_1773-8delinsTCC) | |
| 11 | g.47341253G>A | CA599374440 | MYBPC3 | c.1791-9C>T (n.1791-9C>T) c.1773-9C>T (n.1773-9C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47341253G= | CA1969334773 | MYBPC3 | c.1791-9C= (n.1791-9C=) c.1773-9C= (n.1773-9C=) | |
| 11 | g.47341253G>T | CA078298 | MYBPC3 | c.1791-9C>A (n.1791-9C>A) c.1773-9C>A (n.1773-9C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47341254A= | CA1969334775 | MYBPC3 | c.1791-10T= (n.1791-10T=) c.1773-10T= (n.1773-10T=) | |
| 11 | g.47341254A>G | CA599374441 | MYBPC3 | c.1791-10T>C (n.1791-10T>C) c.1773-10T>C (n.1773-10T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47341255del | CA2791323313 | MYBPC3 | c.1791-11del (n.1791-11del) c.1773-11del (n.1773-11del) | |
| 11 | g.47341255G>A | CA2613399773 | MYBPC3 | c.1791-11C>T (n.1791-11C>T) c.1773-11C>T (n.1773-11C>T) | gnomAD v4 |
| 11 | g.47341255G>C | CA221694348 | MYBPC3 | c.1791-11C>G (n.1791-11C>G) c.1773-11C>G (n.1773-11C>G) | ClinVar dbSNP |
| 11 | g.47341255G= | CA1969334776 | MYBPC3 | c.1791-11C= (n.1791-11C=) c.1773-11C= (n.1773-11C=) | |
| 11 | g.47341255G>T | CA078296 | MYBPC3 | c.1791-11C>A (n.1791-11C>A) c.1773-11C>A (n.1773-11C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47341256C>A | CA2613399781 | MYBPC3 | c.1791-12G>T (n.1791-12G>T) c.1773-12G>T (n.1773-12G>T) | gnomAD v4 |
| 11 | g.47341256C= | CA1969334778 | MYBPC3 | c.1791-12G= (n.1791-12G=) c.1773-12G= (n.1773-12G=) | |
| 11 | g.47341256C>T | CA2613399785 | MYBPC3 | c.1791-12G>A (n.1791-12G>A) c.1773-12G>A (n.1773-12G>A) | gnomAD v4 |
| 11 | g.47341257_47344691del | CA913203384 | MYBPC3 | c.1091-1066_1791-12del c.1073-1066_1773-12del | |
| 11 | g.47341256_47341257insTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACAT | CA1139661925 | MYBPC3 | c.1791-13_1791-12insATGTAATTATCTCATTTAATTCTCGAAACAACACTATGATGGAAGGACTATTACCATTTCCATGTTACTGA (n.1791-13_1791-12insATGTAATTATCTCATTTAATTCTCGAAACAACACTATGATGGAAGGACTATTACCATTTCCATGTTACTGA) c.1773-13_1773-12insATGTAATTATCTCATTTAATTCTCGAAACAACACTATGATGGAAGGACTATTACCATTTCCATGTTACTGA (n.1773-13_1773-12insATGTAATTATCTCATTTAATTCTCGAAACAACACTATGATGGAAGGACTATTACCATTTCCATGTTACTGA) | ClinVar dbSNP |
| 11 | g.47341257A= | CA1969334780 | MYBPC3 | c.1791-13T= (n.1791-13T=) c.1773-13T= (n.1773-13T=) | |
| 11 | g.47341257A>G | CA2613399802 | MYBPC3 | c.1791-13T>C (n.1791-13T>C) c.1773-13T>C (n.1773-13T>C) | gnomAD v4 |
| 11 | g.47341257A>T | CA221694362 | MYBPC3 | c.1791-13T>A (n.1791-13T>A) c.1773-13T>A (n.1773-13T>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47341257_47341258insCCTTTAT | CA2791323314 | MYBPC3 | c.1791-14_1791-13insATAAAGG (n.1791-14_1791-13insATAAAGG) c.1773-14_1773-13insATAAAGG (n.1773-14_1773-13insATAAAGG) | |
| 11 | g.47341259_47341260dup | CA2613399810 | MYBPC3 | c.1791-15_1791-14dup (n.1791-15_1791-14dup) c.1773-15_1773-14dup (n.1773-15_1773-14dup) | gnomAD v4 |
| 11 | g.47341259T>C | CA011146 | MYBPC3 | c.1791-15A>G (n.1791-15A>G) c.1773-15A>G (n.1773-15A>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47341259T= | CA1969334781 | MYBPC3 | c.1791-15A= (n.1791-15A=) c.1773-15A= (n.1773-15A=) | |
| 11 | g.47341260G>T | CA2613399823 | MYBPC3 | c.1791-16C>A (n.1791-16C>A) c.1773-16C>A (n.1773-16C>A) | gnomAD v4 |
| 11 | g.47341261del | CA2574815864 | MYBPC3 | c.1791-16del (n.1791-16del) c.1773-16del (n.1773-16del) | |
| 11 | g.47341261G>A | CA2613399829 | MYBPC3 | c.1791-17C>T (n.1791-17C>T) c.1773-17C>T (n.1773-17C>T) | gnomAD v4 |
| 11 | g.47341261G>C | CA2613399834 | MYBPC3 | c.1791-17C>G (n.1791-17C>G) c.1773-17C>G (n.1773-17C>G) | gnomAD v4 |
| 11 | g.47341261G>T | CA2613399835 | MYBPC3 | c.1791-17C>A (n.1791-17C>A) c.1773-17C>A (n.1773-17C>A) | gnomAD v4 |
| 11 | g.47341262C>A | CA2613399838 | MYBPC3 | c.1791-18G>T (n.1791-18G>T) c.1773-18G>T (n.1773-18G>T) | gnomAD v4 |
| 11 | g.47341262C= | CA1969334783 | MYBPC3 | c.1791-18G= (n.1791-18G=) c.1773-18G= (n.1773-18G=) | |
| 11 | g.47341262C>T | CA1969334782 | MYBPC3 | c.1791-18G>A (n.1791-18G>A) c.1773-18G>A (n.1773-18G>A) | dbSNP gnomAD v4 |
| 11 | g.47341263T>C | CA2574815865 | MYBPC3 | c.1791-19A>G (n.1791-19A>G) c.1773-19A>G (n.1773-19A>G) | gnomAD v4 |
| 11 | g.47341263_47341264insGT | CA2791323315 | MYBPC3 | c.1791-19_1791-18insCA (n.1791-19_1791-18insCA) c.1773-19_1773-18insCA (n.1773-19_1773-18insCA) | |
| 11 | g.47341264C>A | CA2613399856 | MYBPC3 | c.1791-20G>T (n.1791-20G>T) c.1773-20G>T (n.1773-20G>T) | gnomAD v4 |
| 11 | g.47341265del | CA2791323316 | MYBPC3 | c.1791-21del (n.1791-21del) c.1773-21del (n.1773-21del) | |
| 11 | g.47341265A>G | CA2574815866 | MYBPC3 | c.1791-21T>C (n.1791-21T>C) c.1773-21T>C (n.1773-21T>C) | gnomAD v4 |
| 11 | g.47341265A>T | CA2613399860 | MYBPC3 | c.1791-21T>A (n.1791-21T>A) c.1773-21T>A (n.1773-21T>A) | gnomAD v4 |
| 11 | g.47341265_47341266del | CA2613399862 | MYBPC3 | c.1791-22_1791-21del (n.1791-22_1791-21del) c.1773-22_1773-21del (n.1773-22_1773-21del) | gnomAD v4 |
| 11 | g.47341266G>A | CA2574815867 | MYBPC3 | c.1791-22C>T (n.1791-22C>T) c.1773-22C>T (n.1773-22C>T) | gnomAD v4 |
| 11 | g.47341266G>T | CA2613399876 | MYBPC3 | c.1791-22C>A (n.1791-22C>A) c.1773-22C>A (n.1773-22C>A) | gnomAD v4 |
| 11 | g.47341269del | CA2613399875 | MYBPC3 | c.1791-22del (n.1791-22del) c.1773-22del (n.1773-22del) | dbSNP gnomAD v4 |
| 11 | g.47341267G>A | CA2613399886 | MYBPC3 | c.1791-23C>T (n.1791-23C>T) c.1773-23C>T (n.1773-23C>T) | gnomAD v4 |
| 11 | g.47341267G>T | CA2574815868 | MYBPC3 | c.1791-23C>A (n.1791-23C>A) c.1773-23C>A (n.1773-23C>A) | gnomAD v4 |
| 11 | g.47341267_47341268insA | CA2613399899 | MYBPC3 | c.1791-24_1791-23insT (n.1791-24_1791-23insT) c.1773-24_1773-23insT (n.1773-24_1773-23insT) | gnomAD v4 |
| 11 | g.47341268G>T | CA2613399902 | MYBPC3 | c.1791-24C>A (n.1791-24C>A) c.1773-24C>A (n.1773-24C>A) | gnomAD v4 |