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.47342652_47342655delinsGCCT | CA1969335894 | MYBPC3 | c.1547_1550delinsAGGC (p.Glu516=) c.1529_1532delinsAGGC (p.Glu510=) | |
11 | g.47342654_47342656del | CA010626 | MYBPC3 | c.1547_1549del (p.Glu516del) c.1529_1531del (p.Glu510del) | dbSNP |
11 | g.47342654C>A | CA380325128 | MYBPC3 | c.1548G>T (p.Glu516Asp) c.1530G>T (p.Glu510Asp) | |
11 | g.47342654C= | CA1969335898 | MYBPC3 | c.1548G= (p.Glu516=) c.1530G= (p.Glu510=) | |
11 | g.47342654C>G | CA380325129 | MYBPC3 | c.1548G>C (p.Glu516Asp) c.1530G>C (p.Glu510Asp) | ClinVar dbSNP |
11 | g.47342654C>T | CA474219792 | MYBPC3 | c.1548G>A (p.Glu516=) c.1530G>A (p.Glu510=) | ClinVar dbSNP |
11 | g.47342655T>A | CA380325130 | MYBPC3 | c.1547A>T (p.Glu516Val) c.1529A>T (p.Glu510Val) | |
11 | g.47342655T>C | CA380325131 | MYBPC3 | c.1547A>G (p.Glu516Gly) c.1529A>G (p.Glu510Gly) | |
11 | g.47342655T>G | CA380325132 | MYBPC3 | c.1547A>C (p.Glu516Ala) c.1529A>C (p.Glu510Ala) | |
11 | g.47342656_47342659del | CA078158 | MYBPC3 | c.1544_1547del (p.Asn515ArgfsTer?) c.1526_1529del (p.Asn509ArgfsTer?) | |
11 | g.47342656C>A | CA380325133 | MYBPC3 | c.1546G>T (p.Glu516Ter) c.1528G>T (p.Glu510Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.47342656C= | CA1969335900 | MYBPC3 | c.1546G= (p.Glu516=) c.1528G= (p.Glu510=) | |
11 | g.47342656C>G | CA380325134 | MYBPC3 | c.1546G>C (p.Glu516Gln) c.1528G>C (p.Glu510Gln) | |
11 | g.47342656C>T | CA010618 | MYBPC3 | c.1546G>A (p.Glu516Lys) c.1528G>A (p.Glu510Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47342656_47342659delinsCGTT | CA1969335902 | MYBPC3 | c.1543_1546delinsAACG (p.Asn515=) c.1525_1528delinsAACG (p.Asn509=) | |
11 | g.47342657G>A | CA078163 | MYBPC3 | c.1545C>T (p.Asn515=) c.1527C>T (p.Asn509=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.47342657G>C | CA380325136 | MYBPC3 | c.1545C>G (p.Asn515Lys) c.1527C>G (p.Asn509Lys) | |
11 | g.47342657G= | CA1969335904 | MYBPC3 | c.1545C= (p.Asn515=) c.1527C= (p.Asn509=) | |
11 | g.47342657G>T | CA380325135 | MYBPC3 | c.1545C>A (p.Asn515Lys) c.1527C>A (p.Asn509Lys) | |
11 | g.47342658_47342660del | CA010600 | MYBPC3 | c.1543_1545del (p.Asn515del) c.1525_1527del (p.Asn509del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47342658T>A | CA380325137 | MYBPC3 | c.1544A>T (p.Asn515Ile) c.1526A>T (p.Asn509Ile) | |
11 | g.47342658T>C | CA010609 | MYBPC3 | c.1544A>G (p.Asn515Ser) c.1526A>G (p.Asn509Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47342658T>G | CA380325138 | MYBPC3 | c.1544A>C (p.Asn515Thr) c.1526A>C (p.Asn509Thr) | |
11 | g.47342658T= | CA1969335905 | MYBPC3 | c.1544A= (p.Asn515=) c.1526A= (p.Asn509=) | |
11 | g.47342659_47342662del | CA045666 | MYBPC3 | c.1541_1544del (p.Ile514ThrfsTer?) c.1523_1526del (p.Ile508ThrfsTer?) | |
11 | g.47342659T>A | CA380325139 | MYBPC3 | c.1543A>T (p.Asn515Tyr) c.1525A>T (p.Asn509Tyr) | |
11 | g.47342659T>C | CA380325140 | MYBPC3 | c.1543A>G (p.Asn515Asp) c.1525A>G (p.Asn509Asp) | |
11 | g.47342659T>G | CA380325141 | MYBPC3 | c.1543A>C (p.Asn515His) c.1525A>C (p.Asn509His) | gnomAD v4 |
11 | g.47342663_47342665del | CA2580615690 | MYBPC3 | c.1541_1543del (p.Ile514del) c.1523_1525del (p.Ile508del) | ClinVar dbSNP |
11 | g.47342660G>A | CA045711 | MYBPC3 | c.1542C>T (p.Ile514=) c.1524C>T (p.Ile508=) | |
11 | g.47342660G>C | CA380325142 | MYBPC3 | c.1542C>G (p.Ile514Met) c.1524C>G (p.Ile508Met) | |
11 | g.47342660G>T | CA474219825 | MYBPC3 | c.1542C>A (p.Ile514=) c.1524C>A (p.Ile508=) | |
11 | g.47342661A>C | CA380325143 | MYBPC3 | c.1541T>G (p.Ile514Ser) c.1523T>G (p.Ile508Ser) | |
11 | g.47342661A>G | CA380325145 | MYBPC3 | c.1541T>C (p.Ile514Thr) c.1523T>C (p.Ile508Thr) | |
11 | g.47342661A>T | CA380325144 | MYBPC3 | c.1541T>A (p.Ile514Asn) c.1523T>A (p.Ile508Asn) | |
11 | g.47342662T>A | CA380325146 | MYBPC3 | c.1540A>T (p.Ile514Phe) c.1522A>T (p.Ile508Phe) | |
11 | g.47342662T>C | CA010593 | MYBPC3 | c.1540A>G (p.Ile514Val) c.1522A>G (p.Ile508Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47342662T>G | CA380325147 | MYBPC3 | c.1540A>C (p.Ile514Leu) c.1522A>C (p.Ile508Leu) | |
11 | g.47342662T= | CA1969335907 | MYBPC3 | c.1540A= (p.Ile514=) c.1522A= (p.Ile508=) | |
11 | g.47342663G>A | CA474219833 | MYBPC3 | c.1539C>T (p.Ile513=) c.1521C>T (p.Ile507=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47342663G>C | CA380325148 | MYBPC3 | c.1539C>G (p.Ile513Met) c.1521C>G (p.Ile507Met) | |
11 | g.47342663G= | CA1969335909 | MYBPC3 | c.1539C= (p.Ile513=) c.1521C= (p.Ile507=) | |
11 | g.47342663G>T | CA474219834 | MYBPC3 | c.1539C>A (p.Ile513=) c.1521C>A (p.Ile507=) | |
11 | g.47342664A>C | CA380325149 | MYBPC3 | c.1538T>G (p.Ile513Ser) c.1520T>G (p.Ile507Ser) | |
11 | g.47342664A>G | CA380325151 | MYBPC3 | c.1538T>C (p.Ile513Thr) c.1520T>C (p.Ile507Thr) | |
11 | g.47342664A>T | CA380325150 | MYBPC3 | c.1538T>A (p.Ile513Asn) c.1520T>A (p.Ile507Asn) | |
11 | g.47342665T>A | CA380325152 | MYBPC3 | c.1537A>T (p.Ile513Phe) c.1519A>T (p.Ile507Phe) | gnomAD v4 |
11 | g.47342665T>C | CA045651 | MYBPC3 | c.1537A>G (p.Ile513Val) c.1519A>G (p.Ile507Val) | COSMIC COSMIC |