| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 11 | g.47341148G>T | CA474218155 | MYBPC3 | c.1887C>A (p.Leu629=) c.1869C>A (p.Leu623=) | gnomAD v4 |
| 11 | g.47341149_47341205dup | CA2573147067 | MYBPC3 | c.1831_1887dup (p.Leu629_His630insGluAlaAspTyrSerPheValProGluGlyPheAlaCysAsnLeuSerAlaLysLeu) c.1813_1869dup (p.Leu623_His624insGluAlaAspTyrSerPheValProGluGlyPheAlaCysAsnLeuSerAlaLysLeu) | ClinVar dbSNP |
| 11 | g.47341149A= | CA1969334615 | MYBPC3 | c.1886T= (p.Leu629=) c.1868T= (p.Leu623=) | |
| 11 | g.47341149A>C | CA380323630 | MYBPC3 | c.1886T>G (p.Leu629Arg) c.1868T>G (p.Leu623Arg) | |
| 11 | g.47341149A>G | CA011389 | MYBPC3 | c.1886T>C (p.Leu629Pro) c.1868T>C (p.Leu623Pro) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47341149A>T | CA380323633 | MYBPC3 | c.1886T>A (p.Leu629His) c.1868T>A (p.Leu623His) | |
| 11 | g.47341150G>A | CA380323641 | MYBPC3 | c.1885C>T (p.Leu629Phe) c.1867C>T (p.Leu623Phe) | ClinVar |
| 11 | g.47341150G>C | CA380323639 | MYBPC3 | c.1885C>G (p.Leu629Val) c.1867C>G (p.Leu623Val) | |
| 11 | g.47341150G>T | CA380323636 | MYBPC3 | c.1885C>A (p.Leu629Ile) c.1867C>A (p.Leu623Ile) | gnomAD v4 |
| 11 | g.47341151C>A | CA380323646 | MYBPC3 | c.1884G>T (p.Lys628Asn) c.1866G>T (p.Lys622Asn) | gnomAD v4 |
| 11 | g.47341151C= | CA1969334617 | MYBPC3 | c.1884G= (p.Lys628=) c.1866G= (p.Lys622=) | |
| 11 | g.47341151C>G | CA380323648 | MYBPC3 | c.1884G>C (p.Lys628Asn) c.1866G>C (p.Lys622Asn) | |
| 11 | g.47341151C>T | CA474218161 | MYBPC3 | c.1884G>A (p.Lys628=) c.1866G>A (p.Lys622=) | ClinVar dbSNP |
| 11 | g.47341152T>A | CA380323654 | MYBPC3 | c.1883A>T (p.Lys628Met) c.1865A>T (p.Lys622Met) | gnomAD v4 |
| 11 | g.47341152T>C | CA380323656 | MYBPC3 | c.1883A>G (p.Lys628Arg) c.1865A>G (p.Lys622Arg) | gnomAD v4 |
| 11 | g.47341152T>G | CA380323659 | MYBPC3 | c.1883A>C (p.Lys628Thr) c.1865A>C (p.Lys622Thr) | |
| 11 | g.47341153T>A | CA380323661 | MYBPC3 | c.1882A>T (p.Lys628Ter) c.1864A>T (p.Lys622Ter) | |
| 11 | g.47341153T>C | CA380323663 | MYBPC3 | c.1882A>G (p.Lys628Glu) c.1864A>G (p.Lys622Glu) | |
| 11 | g.47341153T>G | CA380323666 | MYBPC3 | c.1882A>C (p.Lys628Gln) c.1864A>C (p.Lys622Gln) | |
| 11 | g.47341154G>A | CA474218163 | MYBPC3 | c.1881C>T (p.Ala627=) c.1863C>T (p.Ala621=) | |
| 11 | g.47341154G>C | CA474218164 | MYBPC3 | c.1881C>G (p.Ala627=) c.1863C>G (p.Ala621=) | dbSNP |
| 11 | g.47341154G= | CA1969334619 | MYBPC3 | c.1881C= (p.Ala627=) c.1863C= (p.Ala621=) | |
| 11 | g.47341154G>T | CA474218165 | MYBPC3 | c.1881C>A (p.Ala627=) c.1863C>A (p.Ala621=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47341154_47341156del | CA2613398141 | MYBPC3 | c.1879_1881del (p.Ala627del) c.1861_1863del (p.Ala621del) | gnomAD v4 |
| 11 | g.47341154_47341155insTTTTTTTTTTTAAT | CA2613398152 | MYBPC3 | c.1880_1881insATTAAAAAAAAAAA (p.Lys628LeufsTer?) c.1862_1863insATTAAAAAAAAAAA (p.Lys622LeufsTer?) | gnomAD v4 |
| 11 | g.47341155G>A | CA380323669 | MYBPC3 | c.1880C>T (p.Ala627Val) c.1862C>T (p.Ala621Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47341155G>C | CA380323672 | MYBPC3 | c.1880C>G (p.Ala627Gly) c.1862C>G (p.Ala621Gly) | ClinVar dbSNP |
| 11 | g.47341155G= | CA1969334621 | MYBPC3 | c.1880C= (p.Ala627=) c.1862C= (p.Ala621=) | |
| 11 | g.47341155G>T | CA380323674 | MYBPC3 | c.1880C>A (p.Ala627Asp) c.1862C>A (p.Ala621Asp) | gnomAD v4 |
| 11 | g.47341155_47341156insTTTTTTTTTTA | CA2613398161 | MYBPC3 | c.1879_1880insTAAAAAAAAAA (p.Ala627ValfsTer?) c.1861_1862insTAAAAAAAAAA (p.Ala621ValfsTer?) | gnomAD v4 |
| 11 | g.47341156C>A | CA380323684 | MYBPC3 | c.1879G>T (p.Ala627Ser) c.1861G>T (p.Ala621Ser) | gnomAD v4 |
| 11 | g.47341156C= | CA1969334622 | MYBPC3 | c.1879G= (p.Ala627=) c.1861G= (p.Ala621=) | |
| 11 | g.47341156C>G | CA380323680 | MYBPC3 | c.1879G>C (p.Ala627Pro) c.1861G>C (p.Ala621Pro) | |
| 11 | g.47341156C>T | CA380323678 | MYBPC3 | c.1879G>A (p.Ala627Thr) c.1861G>A (p.Ala621Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47341157T>A | CA474218167 | MYBPC3 | c.1878A>T (p.Ser626=) c.1860A>T (p.Ser620=) | dbSNP COSMIC COSMIC |
| 11 | g.47341157T>C | CA474218168 | MYBPC3 | c.1878A>G (p.Ser626=) c.1860A>G (p.Ser620=) | |
| 11 | g.47341157T>G | CA474218169 | MYBPC3 | c.1878A>C (p.Ser626=) c.1860A>C (p.Ser620=) | |
| 11 | g.47341157T= | CA1969334624 | MYBPC3 | c.1878A= (p.Ser626=) c.1860A= (p.Ser620=) | |
| 11 | g.47341157_47341158insTATTTTTTAAT | CA2613398166 | MYBPC3 | c.1878_1879insTTAAAAAATAA (p.Ala627LeufsTer?) c.1860_1861insTTAAAAAATAA (p.Ala621LeufsTer?) | gnomAD v4 |