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.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 |
11 | g.47341158G>A | CA380323686 | MYBPC3 | c.1877C>T (p.Ser626Leu) c.1859C>T (p.Ser620Leu) | gnomAD v4 |
11 | g.47341158G>C | CA380323690 | MYBPC3 | c.1877C>G (p.Ser626Ter) c.1859C>G (p.Ser620Ter) | ClinVar |
11 | g.47341158G>T | CA380323691 | MYBPC3 | c.1877C>A (p.Ser626Ter) c.1859C>A (p.Ser620Ter) | gnomAD v4 |
11 | g.47341159A>C | CA380323693 | MYBPC3 | c.1876T>G (p.Ser626Ala) c.1858T>G (p.Ser620Ala) | |
11 | g.47341159A>G | CA380323696 | MYBPC3 | c.1876T>C (p.Ser626Pro) c.1858T>C (p.Ser620Pro) | |
11 | g.47341159A>T | CA380323697 | MYBPC3 | c.1876T>A (p.Ser626Thr) c.1858T>A (p.Ser620Thr) | gnomAD v4 |
11 | g.47341159_47341163delinsACAGG | CA1969334625 | MYBPC3 | c.1872_1876delinsCCTGT (p.Asn624=) c.1854_1858delinsCCTGT (p.Asn618=) | |
11 | g.47341160C>A | CA474218172 | MYBPC3 | c.1875G>T (p.Leu625=) c.1857G>T (p.Leu619=) | gnomAD v4 |
11 | g.47341160C= | CA1969334628 | MYBPC3 | c.1875G= (p.Leu625=) c.1857G= (p.Leu619=) | |
11 | g.47341160C>G | CA474218173 | MYBPC3 | c.1875G>C (p.Leu625=) c.1857G>C (p.Leu619=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47341160C>T | CA474218174 | MYBPC3 | c.1875G>A (p.Leu625=) c.1857G>A (p.Leu619=) | dbSNP gnomAD v2 gnomAD v4 |
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.47341160_47341161insTTTTTA | CA2613398199 | MYBPC3 | c.1874_1875insTAAAAA (p.Leu625_Ser626insLysLys) c.1856_1857insTAAAAA (p.Leu619_Ser620insLysLys) | gnomAD v4 |
11 | g.47341161A>C | CA380323700 | MYBPC3 | c.1874T>G (p.Leu625Arg) c.1856T>G (p.Leu619Arg) | gnomAD v4 |
11 | g.47341161A>G | CA380323702 | MYBPC3 | c.1874T>C (p.Leu625Pro) c.1856T>C (p.Leu619Pro) | gnomAD v4 |
11 | g.47341161A>T | CA380323704 | MYBPC3 | c.1874T>A (p.Leu625Gln) c.1856T>A (p.Leu619Gln) | 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) |