Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47341257_47344691del | CA913203384 | MYBPC3 | c.1091-1066_1791-12del c.1073-1066_1773-12del | |
11 | g.47342513_47342744del | CA2580084236 | MYBPC3 | c.1460_1624+67del c.1442_1606+67del | ClinVar |
11 | g.47342569C>A | CA599374410 | MYBPC3 | c.1624+9G>T (n.1624+9G>T) c.1606+9G>T (n.1606+9G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47342569C= | CA1969335783 | MYBPC3 | c.1624+9G= (n.1624+9G=) c.1606+9G= (n.1606+9G=) | |
11 | g.47342569C>T | CA010797 | MYBPC3 | c.1624+9G>A (n.1624+9G>A) c.1606+9G>A (n.1606+9G>A) | ClinVar dbSNP gnomAD v4 |
11 | g.47342572G>A | CA1139661927 | MYBPC3 | c.1624+6C>T (n.1624+6C>T) c.1606+6C>T (n.1606+6C>T) | ClinVar dbSNP gnomAD v4 |
11 | g.47342572G= | CA1969335784 | MYBPC3 | c.1624+6C= (n.1624+6C=) c.1606+6C= (n.1606+6C=) | |
11 | g.47342572G>T | CA2613402785 | MYBPC3 | c.1624+6C>A (n.1624+6C>A) c.1606+6C>A (n.1606+6C>A) | gnomAD v4 |
11 | g.47342573C>A | CA2613402797 | MYBPC3 | c.1624+5G>T (n.1624+5G>T) c.1606+5G>T (n.1606+5G>T) | gnomAD v4 |
11 | g.47342573C= | CA1969335786 | MYBPC3 | c.1624+5G= (n.1624+5G=) c.1606+5G= (n.1606+5G=) | |
11 | g.47342573C>T | CA010788 | MYBPC3 | c.1624+5G>A (n.1624+5G>A) c.1606+5G>A (n.1606+5G>A) | ClinVar dbSNP |
11 | g.47342574T>A | CA010777 | MYBPC3 | c.1624+4A>T (n.1624+4A>T) c.1606+4A>T (n.1606+4A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47342574T= | CA1969335788 | MYBPC3 | c.1624+4A= (n.1624+4A=) c.1606+4A= (n.1606+4A=) | |
11 | g.47342575C>A | CA2613402805 | MYBPC3 | c.1624+3G>T (n.1624+3G>T) c.1606+3G>T (n.1606+3G>T) | gnomAD v4 |
11 | g.47342575C= | CA1969335790 | MYBPC3 | c.1624+3G= (n.1624+3G=) c.1606+3G= (n.1606+3G=) | |
11 | g.47342575C>G | CA010769 | MYBPC3 | c.1624+3G>C (n.1624+3G>C) c.1606+3G>C (n.1606+3G>C) | ClinVar dbSNP |
11 | g.47342575C>T | CA1139661928 | MYBPC3 | c.1624+3G>A (n.1624+3G>A) c.1606+3G>A (n.1606+3G>A) | ClinVar dbSNP gnomAD v4 |
11 | g.47342576A= | CA1969335793 | MYBPC3 | c.1624+2T= (n.1624+2T=) c.1606+2T= (n.1606+2T=) | |
11 | g.47342576A>C | CA380324976 | MYBPC3 | c.1624+2T>G (n.1624+2T>G) c.1606+2T>G (n.1606+2T>G) | |
11 | g.47342576A>G | CA010761 | MYBPC3 | c.1624+2T>C (n.1624+2T>C) c.1606+2T>C (n.1606+2T>C) | ClinVar dbSNP |
11 | g.47342576A>T | CA221695619 | MYBPC3 | c.1624+2T>A (n.1624+2T>A) c.1606+2T>A (n.1606+2T>A) | dbSNP |
11 | g.47342577C>A | CA380324977 | MYBPC3 | c.1624+1G>T (n.1624+1G>T) c.1606+1G>T (n.1606+1G>T) | ClinVar dbSNP |
11 | g.47342577C= | CA1969335794 | MYBPC3 | c.1624+1G= (n.1624+1G=) c.1606+1G= (n.1606+1G=) | |
11 | g.47342577C>G | CA380324978 | MYBPC3 | c.1624+1G>C (n.1624+1G>C) c.1606+1G>C (n.1606+1G>C) | ClinVar dbSNP |
11 | g.47342577C>T | CA380324979 | MYBPC3 | c.1624+1G>A (n.1624+1G>A) c.1606+1G>A (n.1606+1G>A) | ClinVar dbSNP |
11 | g.47342577_47342578delinsATGAGCT | CA2573051135 | MYBPC3 | c.1624_1624+1delinsAGCTCAT c.1606_1606+1delinsAGCTCAT | |
11 | g.47342578C>A | CA380324980 | MYBPC3 | c.1624G>T (p.Glu542Ter) c.1606G>T (p.Glu536Ter) | ClinVar dbSNP |
11 | g.47342578C= | CA1969335796 | MYBPC3 | c.1624G= (p.Glu542=) c.1606G= (p.Glu536=) | |
11 | g.47342578C>G | CA010806 | MYBPC3 | c.1624G>C (p.Glu542Gln) c.1606G>C (p.Glu536Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47342578C>T | CA380324981 | MYBPC3 | c.1624G>A (p.Glu542Lys) c.1606G>A (p.Glu536Lys) | |
11 | g.47342579C>A | CA380324982 | MYBPC3 | c.1623G>T (p.Gln541His) c.1605G>T (p.Gln535His) | |
11 | g.47342579C= | CA1969335798 | MYBPC3 | c.1623G= (p.Gln541=) c.1605G= (p.Gln535=) | |
11 | g.47342579C>G | CA078207 | MYBPC3 | c.1623G>C (p.Gln541His) c.1605G>C (p.Gln535His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47342579C>T | CA078205 | MYBPC3 | c.1623G>A (p.Gln541=) c.1605G>A (p.Gln535=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47342580T>A | CA380324985 | MYBPC3 | c.1622A>T (p.Gln541Leu) c.1604A>T (p.Gln535Leu) | |
11 | g.47342580T>C | CA380324983 | MYBPC3 | c.1622A>G (p.Gln541Arg) c.1604A>G (p.Gln535Arg) | gnomAD v4 |
11 | g.47342580T>G | CA380324984 | MYBPC3 | c.1622A>C (p.Gln541Pro) c.1604A>C (p.Gln535Pro) | |
11 | g.47342580dup | CA658797632 | MYBPC3 | c.1622dup (p.Glu542GlyfsTer26) c.1604dup (p.Glu536GlyfsTer26) | ClinVar dbSNP |
11 | g.47342581G>A | CA16619341 | MYBPC3 | c.1621C>T (p.Gln541Ter) c.1603C>T (p.Gln535Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.47342581G>C | CA380324986 | MYBPC3 | c.1621C>G (p.Gln541Glu) c.1603C>G (p.Gln535Glu) | gnomAD v4 |
11 | g.47342581G= | CA1969335801 | MYBPC3 | c.1621C= (p.Gln541=) c.1603C= (p.Gln535=) | |
11 | g.47342581G>T | CA380324987 | MYBPC3 | c.1621C>A (p.Gln541Lys) c.1603C>A (p.Gln535Lys) | |
11 | g.47342582del | CA2724173979 | MYBPC3 | c.1620del (p.Gln541ArgfsTer14) c.1602del (p.Gln535ArgfsTer14) | dbSNP |
11 | g.47342582C>A | CA474219556 | MYBPC3 | c.1620G>T (p.Val540=) c.1602G>T (p.Val534=) | dbSNP gnomAD v4 |
11 | g.47342582C= | CA1969335802 | MYBPC3 | c.1620G= (p.Val540=) c.1602G= (p.Val534=) | |
11 | g.47342582C>G | CA046006 | MYBPC3 | c.1620G>C (p.Val540=) c.1602G>C (p.Val534=) | |
11 | g.47342582C>T | CA045994 | MYBPC3 | c.1620G>A (p.Val540=) c.1602G>A (p.Val534=) | |
11 | g.47342583A= | CA1969335804 | MYBPC3 | c.1619T= (p.Val540=) c.1601T= (p.Val534=) | |
11 | g.47342583A>C | CA380324988 | MYBPC3 | c.1619T>G (p.Val540Gly) c.1601T>G (p.Val534Gly) | dbSNP |
11 | g.47342583A>G | CA380324989 | MYBPC3 | c.1619T>C (p.Val540Ala) c.1601T>C (p.Val534Ala) |