| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47339640_47339664del | CA2573051214 | MYBPC3 | c.2054_2067+11del c.2036_2049+11del | |
| 11 | g.47339649_47339661delinsACCTGCGTGATAG | CA1969333363 | MYBPC3 | c.2057_2067+2delinsCTATCACGCAGGT c.2039_2049+2delinsCTATCACGCAGGT | |
| 11 | g.47339653_47339664del | CA599374378 | MYBPC3 | c.2057_2067+1del c.2039_2049+1del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339657G>A | CA474217460 | MYBPC3 | c.2061C>T (p.Ile687=) c.2043C>T (p.Ile681=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.47339657G>C | CA048115 | MYBPC3 | c.2061C>G (p.Ile687Met) c.2043C>G (p.Ile681Met) | |
| 11 | g.47339657G= | CA1969333376 | MYBPC3 | c.2061C= (p.Ile687=) c.2043C= (p.Ile681=) | |
| 11 | g.47339657G>T | CA474217462 | MYBPC3 | c.2061C>A (p.Ile687=) c.2043C>A (p.Ile681=) | |
| 11 | g.47339658_47339661dup | CA913190275 | MYBPC3 | c.2058_2061dup (p.Thr688TyrfsTer6) c.2040_2043dup (p.Thr682TyrfsTer6) c.2058_2061dup (p.Thr688TyrfsTer7) | ClinVar dbSNP |
| 11 | g.47339658A>C | CA380321316 | MYBPC3 | c.2060T>G (p.Ile687Ser) c.2042T>G (p.Ile681Ser) | |
| 11 | g.47339658A>G | CA380321317 | MYBPC3 | c.2060T>C (p.Ile687Thr) c.2042T>C (p.Ile681Thr) | |
| 11 | g.47339658A>T | CA380321320 | MYBPC3 | c.2060T>A (p.Ile687Asn) c.2042T>A (p.Ile681Asn) | |
| 11 | g.47339659T>A | CA380321323 | MYBPC3 | c.2059A>T (p.Ile687Phe) c.2041A>T (p.Ile681Phe) | |
| 11 | g.47339659T>C | CA380321329 | MYBPC3 | c.2059A>G (p.Ile687Val) c.2041A>G (p.Ile681Val) | |
| 11 | g.47339659T>G | CA380321326 | MYBPC3 | c.2059A>C (p.Ile687Leu) c.2041A>C (p.Ile681Leu) | |
| 11 | g.47339659_47339660delinsTA | CA1969333379 | MYBPC3 | c.2058_2059delinsTA (p.Ala686=) c.2040_2041delinsTA (p.Ala680=) | |
| 11 | g.47339660del | CA16619339 | MYBPC3 | c.2058del (p.Ile687SerfsTer?) c.2040del (p.Ile681SerfsTer?) | ClinVar dbSNP |
| 11 | g.47339660A>C | CA474217467 | MYBPC3 | c.2058T>G (p.Ala686=) c.2040T>G (p.Ala680=) | |
| 11 | g.47339660A>G | CA474217469 | MYBPC3 | c.2058T>C (p.Ala686=) c.2040T>C (p.Ala680=) | |
| 11 | g.47339660A>T | CA474217471 | MYBPC3 | c.2058T>A (p.Ala686=) c.2040T>A (p.Ala680=) | ClinVar |
| 11 | g.47339661G>A | CA380321333 | MYBPC3 | c.2057C>T (p.Ala686Val) c.2039C>T (p.Ala680Val) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47339661G>C | CA380321335 | MYBPC3 | c.2057C>G (p.Ala686Gly) c.2039C>G (p.Ala680Gly) | |
| 11 | g.47339661G= | CA1969333381 | MYBPC3 | c.2057C= (p.Ala686=) c.2039C= (p.Ala680=) | |
| 11 | g.47339661G>T | CA380321337 | MYBPC3 | c.2057C>A (p.Ala686Asp) c.2039C>A (p.Ala680Asp) | |
| 11 | g.47339662C>A | CA380321341 | MYBPC3 | c.2056G>T (p.Ala686Ser) c.2038G>T (p.Ala680Ser) | gnomAD v4 |
| 11 | g.47339662C= | CA1969333382 | MYBPC3 | c.2056G= (p.Ala686=) c.2038G= (p.Ala680=) | |
| 11 | g.47339662C>G | CA078493 | MYBPC3 | c.2056G>C (p.Ala686Pro) c.2038G>C (p.Ala680Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339662C>T | CA078490 | MYBPC3 | c.2056G>A (p.Ala686Thr) c.2038G>A (p.Ala680Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47339663C>A | CA380321346 | MYBPC3 | c.2055G>T (p.Lys685Asn) c.2037G>T (p.Lys679Asn) | |
| 11 | g.47339663C>G | CA380321349 | MYBPC3 | c.2055G>C (p.Lys685Asn) c.2037G>C (p.Lys679Asn) | |
| 11 | g.47339663C>T | CA474217478 | MYBPC3 | c.2055G>A (p.Lys685=) c.2037G>A (p.Lys679=) | |
| 11 | g.47339664T>A | CA380321354 | MYBPC3 | c.2054A>T (p.Lys685Met) c.2036A>T (p.Lys679Met) | |
| 11 | g.47339664T>C | CA380321356 | MYBPC3 | c.2054A>G (p.Lys685Arg) c.2036A>G (p.Lys679Arg) | |
| 11 | g.47339664T>G | CA380321360 | MYBPC3 | c.2054A>C (p.Lys685Thr) c.2036A>C (p.Lys679Thr) | |
| 11 | g.47339665T>A | CA380321366 | MYBPC3 | c.2053A>T (p.Lys685Ter) c.2035A>T (p.Lys679Ter) | |
| 11 | g.47339665T>C | CA380321363 | MYBPC3 | c.2053A>G (p.Lys685Glu) c.2035A>G (p.Lys679Glu) | |
| 11 | g.47339665T>G | CA380321362 | MYBPC3 | c.2053A>C (p.Lys685Gln) c.2035A>C (p.Lys679Gln) | |
| 11 | g.47339666C>A | CA380321367 | MYBPC3 | c.2052G>T (p.Gln684His) c.2034G>T (p.Gln678His) | |
| 11 | g.47339666C= | CA1969333384 | MYBPC3 | c.2052G= (p.Gln684=) c.2034G= (p.Gln678=) | |
| 11 | g.47339666C>G | CA380321368 | MYBPC3 | c.2052G>C (p.Gln684His) c.2034G>C (p.Gln678His) | |
| 11 | g.47339666C>T | CA474217493 | MYBPC3 | c.2052G>A (p.Gln684=) c.2034G>A (p.Gln678=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47339667T>A | CA380321369 | MYBPC3 | c.2051A>T (p.Gln684Leu) c.2033A>T (p.Gln678Leu) | |
| 11 | g.47339667T>C | CA380321371 | MYBPC3 | c.2051A>G (p.Gln684Arg) c.2033A>G (p.Gln678Arg) | |
| 11 | g.47339667T>G | CA380321370 | MYBPC3 | c.2051A>C (p.Gln684Pro) c.2033A>C (p.Gln678Pro) | |
| 11 | g.47339668G>A | CA380321374 | MYBPC3 | c.2050C>T (p.Gln684Ter) c.2032C>T (p.Gln678Ter) | gnomAD v4 |
| 11 | g.47339668G>C | CA380321378 | MYBPC3 | c.2050C>G (p.Gln684Glu) c.2032C>G (p.Gln678Glu) | |
| 11 | g.47339668G= | CA1969333386 | MYBPC3 | c.2050C= (p.Gln684=) c.2032C= (p.Gln678=) | |
| 11 | g.47339668G>T | CA380321375 | MYBPC3 | c.2050C>A (p.Gln684Lys) c.2032C>A (p.Gln678Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339669C>A | CA380321381 | MYBPC3 | c.2049G>T (p.Trp683Cys) c.2031G>T (p.Trp677Cys) | gnomAD v4 |
| 11 | g.47339669C>G | CA380321386 | MYBPC3 | c.2049G>C (p.Trp683Cys) c.2031G>C (p.Trp677Cys) | |
| 11 | g.47339669C>T | CA380321383 | MYBPC3 | c.2049G>A (p.Trp683Ter) c.2031G>A (p.Trp677Ter) |