| 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.47342644C>A | CA380325108 | MYBPC3 | c.1558G>T (p.Glu520Ter) c.1540G>T (p.Glu514Ter) | |
| 11 | g.47342644C>G | CA380325109 | MYBPC3 | c.1558G>C (p.Glu520Gln) c.1540G>C (p.Glu514Gln) | |
| 11 | g.47342644C>T | CA380325110 | MYBPC3 | c.1558G>A (p.Glu520Lys) c.1540G>A (p.Glu514Lys) | COSMIC COSMIC |
| 11 | g.47342645C>A | CA078167 | MYBPC3 | c.1557G>T (p.Leu519=) c.1539G>T (p.Leu513=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342645C= | CA1969335883 | MYBPC3 | c.1557G= (p.Leu519=) c.1539G= (p.Leu513=) | |
| 11 | g.47342645C>G | CA474219760 | MYBPC3 | c.1557G>C (p.Leu519=) c.1539G>C (p.Leu513=) | |
| 11 | g.47342645C>T | CA474219762 | MYBPC3 | c.1557G>A (p.Leu519=) c.1539G>A (p.Leu513=) | |
| 11 | g.47342646A>C | CA380325111 | MYBPC3 | c.1556T>G (p.Leu519Arg) c.1538T>G (p.Leu513Arg) | |
| 11 | g.47342646A>G | CA380325113 | MYBPC3 | c.1556T>C (p.Leu519Pro) c.1538T>C (p.Leu513Pro) | |
| 11 | g.47342646A>T | CA380325112 | MYBPC3 | c.1556T>A (p.Leu519Gln) c.1538T>A (p.Leu513Gln) | |
| 11 | g.47342647G>A | CA474219768 | MYBPC3 | c.1555C>T (p.Leu519=) c.1537C>T (p.Leu513=) | |
| 11 | g.47342647G>C | CA380325114 | MYBPC3 | c.1555C>G (p.Leu519Val) c.1537C>G (p.Leu513Val) | |
| 11 | g.47342647G>T | CA380325115 | MYBPC3 | c.1555C>A (p.Leu519Met) c.1537C>A (p.Leu513Met) | |
| 11 | g.47342648C>A | CA045738 | MYBPC3 | c.1554G>T (p.Met518Ile) c.1536G>T (p.Met512Ile) | |
| 11 | g.47342648C= | CA1969335885 | MYBPC3 | c.1554G= (p.Met518=) c.1536G= (p.Met512=) | |
| 11 | g.47342648C>G | CA380325116 | MYBPC3 | c.1554G>C (p.Met518Ile) c.1536G>C (p.Met512Ile) | dbSNP |
| 11 | g.47342648C>T | CA078165 | MYBPC3 | c.1554G>A (p.Met518Ile) c.1536G>A (p.Met512Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342648_47342649del | CA2562651471 | MYBPC3 | c.1553_1554del (p.Met518ThrfsTer12) c.1535_1536del (p.Met512ThrfsTer12) | |
| 11 | g.47342649A= | CA1969335889 | MYBPC3 | c.1553T= (p.Met518=) c.1535T= (p.Met512=) | |
| 11 | g.47342649A>C | CA380325117 | MYBPC3 | c.1553T>G (p.Met518Arg) c.1535T>G (p.Met512Arg) | |
| 11 | g.47342649A>G | CA10638733 | MYBPC3 | c.1553T>C (p.Met518Thr) c.1535T>C (p.Met512Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342649A>T | CA380325118 | MYBPC3 | c.1553T>A (p.Met518Lys) c.1535T>A (p.Met512Lys) | |
| 11 | g.47342650T>A | CA380325119 | MYBPC3 | c.1552A>T (p.Met518Leu) c.1534A>T (p.Met512Leu) | |
| 11 | g.47342650T>C | CA380325120 | MYBPC3 | c.1552A>G (p.Met518Val) c.1534A>G (p.Met512Val) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342650T>G | CA380325121 | MYBPC3 | c.1552A>C (p.Met518Leu) c.1534A>C (p.Met512Leu) | |
| 11 | g.47342650T= | CA1969335891 | MYBPC3 | c.1552A= (p.Met518=) c.1534A= (p.Met512=) | |
| 11 | g.47342651G>A | CA474219780 | MYBPC3 | c.1551C>T (p.Ala517=) c.1533C>T (p.Ala511=) | |
| 11 | g.47342651G>C | CA474219781 | MYBPC3 | c.1551C>G (p.Ala517=) c.1533C>G (p.Ala511=) | dbSNP |
| 11 | g.47342651G= | CA1969335892 | MYBPC3 | c.1551C= (p.Ala517=) c.1533C= (p.Ala511=) | |
| 11 | g.47342651G>T | CA474219782 | MYBPC3 | c.1551C>A (p.Ala517=) c.1533C>A (p.Ala511=) | |
| 11 | g.47342651_47342652insTC | CA2548150362 | MYBPC3 | c.1550_1551insGA (p.Met518ThrfsTer?) c.1532_1533insGA (p.Met512ThrfsTer?) | |
| 11 | g.47342652G>A | CA380325124 | MYBPC3 | c.1550C>T (p.Ala517Val) c.1532C>T (p.Ala511Val) | |
| 11 | g.47342652G>C | CA380325123 | MYBPC3 | c.1550C>G (p.Ala517Gly) c.1532C>G (p.Ala511Gly) | |
| 11 | g.47342652G>T | CA380325122 | MYBPC3 | c.1550C>A (p.Ala517Asp) c.1532C>A (p.Ala511Asp) | |
| 11 | g.47342652_47342655delinsGCCT | CA1969335894 | MYBPC3 | c.1547_1550delinsAGGC (p.Glu516=) c.1529_1532delinsAGGC (p.Glu510=) | |
| 11 | g.47342653C>A | CA380325125 | MYBPC3 | c.1549G>T (p.Ala517Ser) c.1531G>T (p.Ala511Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342653C= | CA1969335896 | MYBPC3 | c.1549G= (p.Ala517=) c.1531G= (p.Ala511=) | |
| 11 | g.47342653C>G | CA380325126 | MYBPC3 | c.1549G>C (p.Ala517Pro) c.1531G>C (p.Ala511Pro) | dbSNP gnomAD v4 |
| 11 | g.47342653C>T | CA380325127 | MYBPC3 | c.1549G>A (p.Ala517Thr) c.1531G>A (p.Ala511Thr) | gnomAD v4 |
| 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=) | 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?) |