Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47341034_47341138del | CA2791323284 | MYBPC3 | c.1897+1_1898-1del c.1879+1_1880-1del | |
11 | g.47341136_47341138del | CA2695212778 | MYBPC3 | c.1897+1_1897+3del c.1879+1_1879+3del | |
11 | g.47341137C>A | CA380323514 | MYBPC3 | c.1897+1G>T (n.1897+1G>T) c.1879+1G>T (n.1879+1G>T) | |
11 | g.47341137C= | CA1969334598 | MYBPC3 | c.1897+1G= (n.1897+1G=) c.1879+1G= (n.1879+1G=) | |
11 | g.47341137C>G | CA380323516 | MYBPC3 | c.1897+1G>C (n.1897+1G>C) c.1879+1G>C (n.1879+1G>C) | |
11 | g.47341137C>T | CA011421 | MYBPC3 | c.1897+1G>A (n.1897+1G>A) c.1879+1G>A (n.1879+1G>A) | ClinVar dbSNP |
11 | g.47341139del | CA1139771254 | MYBPC3 | c.1897+1del c.1879+1del | |
11 | g.47341138C>A | CA380323524 | MYBPC3 | c.1897G>T (p.Glu633Ter) c.1879G>T (p.Glu627Ter) | gnomAD v4 |
11 | g.47341138C>G | CA380323534 | MYBPC3 | c.1897G>C (p.Glu633Gln) c.1879G>C (p.Glu627Gln) | |
11 | g.47341138C>T | CA380323527 | MYBPC3 | c.1897G>A (p.Glu633Lys) c.1879G>A (p.Glu627Lys) | gnomAD v4 |
11 | g.47341139C>A | CA380323536 | MYBPC3 | c.1896G>T (p.Met632Ile) c.1878G>T (p.Met626Ile) | |
11 | g.47341139C>G | CA380323541 | MYBPC3 | c.1896G>C (p.Met632Ile) c.1878G>C (p.Met626Ile) | |
11 | g.47341139C>T | CA380323538 | MYBPC3 | c.1896G>A (p.Met632Ile) c.1878G>A (p.Met626Ile) | |
11 | g.47341139_47341140delinsCA | CA1969334600 | MYBPC3 | c.1895_1896delinsTG (p.Met632=) c.1877_1878delinsTG (p.Met626=) | |
11 | g.47341140del | CA011407 | MYBPC3 | c.1895del (p.Met632ArgfsTer?) c.1877del (p.Met626ArgfsTer?) | ClinVar dbSNP gnomAD v4 |
11 | g.47341140A>C | CA380323545 | MYBPC3 | c.1895T>G (p.Met632Arg) c.1877T>G (p.Met626Arg) | gnomAD v3 gnomAD v4 |
11 | g.47341140A>G | CA380323553 | MYBPC3 | c.1895T>C (p.Met632Thr) c.1877T>C (p.Met626Thr) | gnomAD v4 |
11 | g.47341140A>T | CA380323558 | MYBPC3 | c.1895T>A (p.Met632Lys) c.1877T>A (p.Met626Lys) | |
11 | g.47341141T>A | CA380323559 | MYBPC3 | c.1894A>T (p.Met632Leu) c.1876A>T (p.Met626Leu) | gnomAD v3 gnomAD v4 |
11 | g.47341141T>C | CA380323560 | MYBPC3 | c.1894A>G (p.Met632Val) c.1876A>G (p.Met626Val) | dbSNP gnomAD v2 |
11 | g.47341141T>G | CA380323564 | MYBPC3 | c.1894A>C (p.Met632Leu) c.1876A>C (p.Met626Leu) | gnomAD v4 |
11 | g.47341141T= | CA1969334602 | MYBPC3 | c.1894A= (p.Met632=) c.1876A= (p.Met626=) | |
11 | g.47341142G>A | CA474218147 | MYBPC3 | c.1893C>T (p.Phe631=) c.1875C>T (p.Phe625=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47341142G>C | CA380323567 | MYBPC3 | c.1893C>G (p.Phe631Leu) c.1875C>G (p.Phe625Leu) | |
11 | g.47341142G= | CA1969334604 | MYBPC3 | c.1893C= (p.Phe631=) c.1875C= (p.Phe625=) | |
11 | g.47341142G>T | CA380323570 | MYBPC3 | c.1893C>A (p.Phe631Leu) c.1875C>A (p.Phe625Leu) | gnomAD v4 COSMIC COSMIC |
11 | g.47341142_47341143delinsGA | CA1969334605 | MYBPC3 | c.1892_1893delinsTC (p.Phe631=) c.1874_1875delinsTC (p.Phe625=) | |
11 | g.47341143A>C | CA380323573 | MYBPC3 | c.1892T>G (p.Phe631Cys) c.1874T>G (p.Phe625Cys) | |
11 | g.47341143A>G | CA380323580 | MYBPC3 | c.1892T>C (p.Phe631Ser) c.1874T>C (p.Phe625Ser) | |
11 | g.47341143A>T | CA380323582 | MYBPC3 | c.1892T>A (p.Phe631Tyr) c.1874T>A (p.Phe625Tyr) | gnomAD v4 |
11 | g.47341144del | CA011401 | MYBPC3 | c.1892del (p.Phe631SerfsTer?) c.1874del (p.Phe625SerfsTer?) | ClinVar dbSNP |
11 | g.47341144A>C | CA380323607 | MYBPC3 | c.1891T>G (p.Phe631Val) c.1873T>G (p.Phe625Val) | |
11 | g.47341144A>G | CA380323604 | MYBPC3 | c.1891T>C (p.Phe631Leu) c.1873T>C (p.Phe625Leu) | |
11 | g.47341144A>T | CA380323585 | MYBPC3 | c.1891T>A (p.Phe631Ile) c.1873T>A (p.Phe625Ile) | |
11 | g.47341144_47341145delinsAG | CA1969334607 | MYBPC3 | c.1890_1891delinsCT (p.His630=) c.1872_1873delinsCT (p.His624=) | |
11 | g.47341145del | CA913190278 | MYBPC3 | c.1890del (p.Phe631SerfsTer?) c.1872del (p.Phe625SerfsTer?) | ClinVar dbSNP |
11 | g.47341145G>A | CA474218153 | MYBPC3 | c.1890C>T (p.His630=) c.1872C>T (p.His624=) | gnomAD v4 |
11 | g.47341145G>C | CA380323609 | MYBPC3 | c.1890C>G (p.His630Gln) c.1872C>G (p.His624Gln) | gnomAD v4 |
11 | g.47341145G>T | CA380323612 | MYBPC3 | c.1890C>A (p.His630Gln) c.1872C>A (p.His624Gln) | |
11 | g.47341146T>A | CA078356 | MYBPC3 | c.1889A>T (p.His630Leu) c.1871A>T (p.His624Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47341146T>C | CA380323618 | MYBPC3 | c.1889A>G (p.His630Arg) c.1871A>G (p.His624Arg) | gnomAD v4 |
11 | g.47341146T>G | CA380323619 | MYBPC3 | c.1889A>C (p.His630Pro) c.1871A>C (p.His624Pro) | |
11 | g.47341146T= | CA1969334610 | MYBPC3 | c.1889A= (p.His630=) c.1871A= (p.His624=) | |
11 | g.47341147G>A | CA380323621 | MYBPC3 | c.1888C>T (p.His630Tyr) c.1870C>T (p.His624Tyr) | dbSNP gnomAD v4 |
11 | g.47341147G>C | CA380323625 | MYBPC3 | c.1888C>G (p.His630Asp) c.1870C>G (p.His624Asp) | gnomAD v4 |
11 | g.47341147G= | CA1969334611 | MYBPC3 | c.1888C= (p.His630=) c.1870C= (p.His624=) | |
11 | g.47341147G>T | CA380323628 | MYBPC3 | c.1888C>A (p.His630Asn) c.1870C>A (p.His624Asn) | |
11 | g.47341148G>A | CA474218157 | MYBPC3 | c.1887C>T (p.Leu629=) c.1869C>T (p.Leu623=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47341148G>C | CA474218156 | MYBPC3 | c.1887C>G (p.Leu629=) c.1869C>G (p.Leu623=) | |
11 | g.47341148G= | CA1969334613 | MYBPC3 | c.1887C= (p.Leu629=) c.1869C= (p.Leu623=) |