| 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.47342064C>A | CA380324301 | MYBPC3 | c.1717G>T (p.Val573Phe) c.1699G>T (p.Val567Phe) | |
| 11 | g.47342064C>G | CA380324302 | MYBPC3 | c.1717G>C (p.Val573Leu) c.1699G>C (p.Val567Leu) | |
| 11 | g.47342064C>T | CA380324303 | MYBPC3 | c.1717G>A (p.Val573Ile) c.1699G>A (p.Val567Ile) | ClinVar |
| 11 | g.47342065A= | CA1969335347 | MYBPC3 | c.1716T= (p.Asn572=) c.1698T= (p.Asn566=) | |
| 11 | g.47342065A>C | CA380324304 | MYBPC3 | c.1716T>G (p.Asn572Lys) c.1698T>G (p.Asn566Lys) | |
| 11 | g.47342065A>G | CA474218889 | MYBPC3 | c.1716T>C (p.Asn572=) c.1698T>C (p.Asn566=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342065A>T | CA380324305 | MYBPC3 | c.1716T>A (p.Asn572Lys) c.1698T>A (p.Asn566Lys) | dbSNP gnomAD v2 |
| 11 | g.47342066T>A | CA380324306 | MYBPC3 | c.1715A>T (p.Asn572Ile) c.1697A>T (p.Asn566Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342066T>C | CA380324307 | MYBPC3 | c.1715A>G (p.Asn572Ser) c.1697A>G (p.Asn566Ser) | |
| 11 | g.47342066T>G | CA380324308 | MYBPC3 | c.1715A>C (p.Asn572Thr) c.1697A>C (p.Asn566Thr) | |
| 11 | g.47342066T= | CA1969335349 | MYBPC3 | c.1715A= (p.Asn572=) c.1697A= (p.Asn566=) | |
| 11 | g.47342067T>A | CA380324309 | MYBPC3 | c.1714A>T (p.Asn572Tyr) c.1696A>T (p.Asn566Tyr) | |
| 11 | g.47342067T>C | CA380324310 | MYBPC3 | c.1714A>G (p.Asn572Asp) c.1696A>G (p.Asn566Asp) | ClinVar |
| 11 | g.47342067T>G | CA380324311 | MYBPC3 | c.1714A>C (p.Asn572His) c.1696A>C (p.Asn566His) | |
| 11 | g.47342068C>A | CA380324312 | MYBPC3 | c.1713G>T (p.Glu571Asp) c.1695G>T (p.Glu565Asp) | |
| 11 | g.47342068C= | CA1969335350 | MYBPC3 | c.1713G= (p.Glu571=) c.1695G= (p.Glu565=) | |
| 11 | g.47342068C>G | CA380324313 | MYBPC3 | c.1713G>C (p.Glu571Asp) c.1695G>C (p.Glu565Asp) | |
| 11 | g.47342068C>T | CA16613619 | MYBPC3 | c.1713G>A (p.Glu571=) c.1695G>A (p.Glu565=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342069T>A | CA380324314 | MYBPC3 | c.1712A>T (p.Glu571Val) c.1694A>T (p.Glu565Val) | |
| 11 | g.47342069T>C | CA380324316 | MYBPC3 | c.1712A>G (p.Glu571Gly) c.1694A>G (p.Glu565Gly) | |
| 11 | g.47342069T>G | CA380324315 | MYBPC3 | c.1712A>C (p.Glu571Ala) c.1694A>C (p.Glu565Ala) | |
| 11 | g.47342070C>A | CA380324317 | MYBPC3 | c.1711G>T (p.Glu571Ter) c.1693G>T (p.Glu565Ter) | ClinVar |
| 11 | g.47342070C>G | CA380324319 | MYBPC3 | c.1711G>C (p.Glu571Gln) c.1693G>C (p.Glu565Gln) | |
| 11 | g.47342070C>T | CA380324318 | MYBPC3 | c.1711G>A (p.Glu571Lys) c.1693G>A (p.Glu565Lys) | |
| 11 | g.47342071A>C | CA380324320 | MYBPC3 | c.1710T>G (p.Asp570Glu) c.1692T>G (p.Asp564Glu) | gnomAD v4 |
| 11 | g.47342071A>G | CA474218912 | MYBPC3 | c.1710T>C (p.Asp570=) c.1692T>C (p.Asp564=) | |
| 11 | g.47342071A>T | CA380324321 | MYBPC3 | c.1710T>A (p.Asp570Glu) c.1692T>A (p.Asp564Glu) | |
| 11 | g.47342071_47342073delinsATC | CA1969335352 | MYBPC3 | c.1708_1710delinsGAT (p.Asp570=) c.1690_1692delinsGAT (p.Asp564=) | |
| 11 | g.47342072T>A | CA380324322 | MYBPC3 | c.1709A>T (p.Asp570Val) c.1691A>T (p.Asp564Val) | |
| 11 | g.47342072T>C | CA380324323 | MYBPC3 | c.1709A>G (p.Asp570Gly) c.1691A>G (p.Asp564Gly) | ClinVar |
| 11 | g.47342072T>G | CA380324324 | MYBPC3 | c.1709A>C (p.Asp570Ala) c.1691A>C (p.Asp564Ala) | gnomAD v4 |
| 11 | g.47342072dup | CA2695212784 | MYBPC3 | c.1709dup (p.Asp570GlufsTer2) c.1691dup (p.Asp564GlufsTer2) | |
| 11 | g.47342073_47342074del | CA1969335353 | MYBPC3 | c.1708_1709del (p.Asp570Ter) c.1690_1691del (p.Asp564Ter) | dbSNP |
| 11 | g.47342073C>A | CA380324325 | MYBPC3 | c.1708G>T (p.Asp570Tyr) c.1690G>T (p.Asp564Tyr) | |
| 11 | g.47342073C>G | CA380324326 | MYBPC3 | c.1708G>C (p.Asp570His) c.1690G>C (p.Asp564His) | |
| 11 | g.47342073C>T | CA380324327 | MYBPC3 | c.1708G>A (p.Asp570Asn) c.1690G>A (p.Asp564Asn) | ClinVar gnomAD v4 |
| 11 | g.47342074T>A | CA474218917 | MYBPC3 | c.1707A>T (p.Ser569=) c.1689A>T (p.Ser563=) | dbSNP |
| 11 | g.47342074T>C | CA474218922 | MYBPC3 | c.1707A>G (p.Ser569=) c.1689A>G (p.Ser563=) | |
| 11 | g.47342074T>G | CA474218923 | MYBPC3 | c.1707A>C (p.Ser569=) c.1689A>C (p.Ser563=) | |
| 11 | g.47342074T= | CA1969335354 | MYBPC3 | c.1707A= (p.Ser569=) c.1689A= (p.Ser563=) | |
| 11 | g.47342075G>A | CA380324328 | MYBPC3 | c.1706C>T (p.Ser569Leu) c.1688C>T (p.Ser563Leu) | |
| 11 | g.47342075G>C | CA380324329 | MYBPC3 | c.1706C>G (p.Ser569Ter) c.1688C>G (p.Ser563Ter) | |
| 11 | g.47342075G>T | CA380324330 | MYBPC3 | c.1706C>A (p.Ser569Ter) c.1688C>A (p.Ser563Ter) | |
| 11 | g.47342076A>C | CA380324333 | MYBPC3 | c.1705T>G (p.Ser569Ala) c.1687T>G (p.Ser563Ala) | |
| 11 | g.47342076A>G | CA380324332 | MYBPC3 | c.1705T>C (p.Ser569Pro) c.1687T>C (p.Ser563Pro) | |
| 11 | g.47342076A>T | CA380324331 | MYBPC3 | c.1705T>A (p.Ser569Thr) c.1687T>A (p.Ser563Thr) | |
| 11 | g.47342077G>A | CA474218931 | MYBPC3 | c.1704C>T (p.Val568=) c.1686C>T (p.Val562=) | COSMIC COSMIC |
| 11 | g.47342077G>C | CA474218930 | MYBPC3 | c.1704C>G (p.Val568=) c.1686C>G (p.Val562=) | |
| 11 | g.47342077G>T | CA474218929 | MYBPC3 | c.1704C>A (p.Val568=) c.1686C>A (p.Val562=) | |
| 11 | g.47342078A>C | CA380324334 | MYBPC3 | c.1703T>G (p.Val568Gly) c.1685T>G (p.Val562Gly) | |
| 11 | g.47342078A>G | CA380324335 | MYBPC3 | c.1703T>C (p.Val568Ala) c.1685T>C (p.Val562Ala) | |
| 11 | g.47342078A>T | CA380324336 | MYBPC3 | c.1703T>A (p.Val568Asp) c.1685T>A (p.Val562Asp) | ClinVar dbSNP |
| 11 | g.47342079C>A | CA380324337 | MYBPC3 | c.1702G>T (p.Val568Phe) c.1684G>T (p.Val562Phe) | |
| 11 | g.47342079C= | CA1969335356 | MYBPC3 | c.1702G= (p.Val568=) c.1684G= (p.Val562=) | |
| 11 | g.47342079C>G | CA380324338 | MYBPC3 | c.1702G>C (p.Val568Leu) c.1684G>C (p.Val562Leu) | |
| 11 | g.47342079C>T | CA380324339 | MYBPC3 | c.1702G>A (p.Val568Ile) c.1684G>A (p.Val562Ile) | ClinVar dbSNP |
| 11 | g.47342079_47342081delinsCCT | CA1969335355 | MYBPC3 | c.1700_1702delinsAGG (p.Glu567=) c.1682_1684delinsAGG (p.Glu561=) | |
| 11 | g.47342080C>A | CA380324340 | MYBPC3 | c.1701G>T (p.Glu567Asp) c.1683G>T (p.Glu561Asp) | |
| 11 | g.47342080C>G | CA380324341 | MYBPC3 | c.1701G>C (p.Glu567Asp) c.1683G>C (p.Glu561Asp) | |
| 11 | g.47342080C>T | CA474218942 | MYBPC3 | c.1701G>A (p.Glu567=) c.1683G>A (p.Glu561=) | dbSNP gnomAD v4 |
| 11 | g.47342080delinsATTCAAAGGTGT | CA913187806 | MYBPC3 | c.1701delinsACACCTTTGAAT (p.Val568HisfsTer3) c.1683delinsACACCTTTGAAT (p.Val562HisfsTer3) | ClinVar |
| 11 | g.47342081_47342082del | CA010952 | MYBPC3 | c.1700_1701del (p.Glu567GlyfsTer4) c.1682_1683del (p.Glu561GlyfsTer4) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342081T>A | CA380324342 | MYBPC3 | c.1700A>T (p.Glu567Val) c.1682A>T (p.Glu561Val) | |
| 11 | g.47342081T>C | CA380324343 | MYBPC3 | c.1700A>G (p.Glu567Gly) c.1682A>G (p.Glu561Gly) | |
| 11 | g.47342081T>G | CA380324344 | MYBPC3 | c.1700A>C (p.Glu567Ala) c.1682A>C (p.Glu561Ala) | |
| 11 | g.47342082C>A | CA380324347 | MYBPC3 | c.1699G>T (p.Glu567Ter) c.1681G>T (p.Glu561Ter) | ClinVar |
| 11 | g.47342082C>G | CA380324346 | MYBPC3 | c.1699G>C (p.Glu567Gln) c.1681G>C (p.Glu561Gln) | |
| 11 | g.47342082C>T | CA380324345 | MYBPC3 | c.1699G>A (p.Glu567Lys) c.1681G>A (p.Glu561Lys) | gnomAD v4 |
| 11 | g.47342082_47342097delinsCACATTTGAACACCGC | CA1969335358 | MYBPC3 | c.1684_1699delinsGCGGTGTTCAAATGTG (p.Ala562=) c.1666_1681delinsGCGGTGTTCAAATGTG (p.Ala556=) | |
| 11 | g.47342083A>C | CA380324349 | MYBPC3 | c.1698T>G (p.Cys566Trp) c.1680T>G (p.Cys560Trp) | |
| 11 | g.47342083A>G | CA474218955 | MYBPC3 | c.1698T>C (p.Cys566=) c.1680T>C (p.Cys560=) | |
| 11 | g.47342083A>T | CA380324348 | MYBPC3 | c.1698T>A (p.Cys566Ter) c.1680T>A (p.Cys560Ter) | |
| 11 | g.47342083_47342097delinsCTAAACCTCATCCTTCTCATCTCTAAAATGACGATGCTGAGGTGACCGCTCCAGAGGGTACTGAGAGGGTCATACGGGCCTGGTGAGCATCACCACCCCTCAGACACTTGAGGTTCCTTATGTGCACTGCACCATCACAGGCAAACATGGCACACACAGGCACACGTGTTTTCACATGCCCACATGCACCCAGACACGTGCGCACCAGCGCCCATGGGCCCACACGCCCTCCACAGGGATTCACGCCACACCCACACACCCTCCCGAGCTCAATGGCTCTGCCCTGCCCTGCAGAAAAGAAGCTGGAGGTGTACCAGAGCATCGCAGACCTGATGGTGGGCGCAAAGGACCAGCAGCCACAGTAGCTTGGCCTGGGGGAGCAGGGTGCGGGCGGTGGGGTGGCCGGGGCTGAGGGGTGGTGCTCAGCCTTTCAGAAGAAGCTGGAGCCGGCCTACCAGGTGAGCAAAGGCCACAAGATCCGGCTGACCGTGGAACTGGCTGACCATGACGCTGAGGTCAAATGGCTCAAGAATGGCCAGGAGATCCAGATGAGCGGCAGGTGCAGCCTGGGGTGGGGAGGGGGGCTCGGGTGGAGCAGCCACAGTAGCTTGGCCTGGGGGAGCAGGG | CA915948156 | MYBPC3 | c.1684_1698delinsCCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAG (p.Ala562ProfsTer34) c.1666_1680delinsCCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAG (p.Ala556ProfsTer34) | ClinVar dbSNP |
| 11 | g.47342084C>A | CA380324350 | MYBPC3 | c.1697G>T (p.Cys566Phe) c.1679G>T (p.Cys560Phe) | |
| 11 | g.47342084C= | CA1969335360 | MYBPC3 | c.1697G= (p.Cys566=) c.1679G= (p.Cys560=) | |
| 11 | g.47342084C>G | CA380324351 | MYBPC3 | c.1697G>C (p.Cys566Ser) c.1679G>C (p.Cys560Ser) | |
| 11 | g.47342084C>T | CA221694999 | MYBPC3 | c.1697G>A (p.Cys566Tyr) c.1679G>A (p.Cys560Tyr) | dbSNP |
| 11 | g.47342085A= | CA1969335362 | MYBPC3 | c.1696T= (p.Cys566=) c.1678T= (p.Cys560=) | |
| 11 | g.47342085A>C | CA380324352 | MYBPC3 | c.1696T>G (p.Cys566Gly) c.1678T>G (p.Cys560Gly) | |
| 11 | g.47342085A>G | CA010945 | MYBPC3 | c.1696T>C (p.Cys566Arg) c.1678T>C (p.Cys560Arg) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342085A>T | CA380324353 | MYBPC3 | c.1696T>A (p.Cys566Ser) c.1678T>A (p.Cys560Ser) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342086T>A | CA380324354 | MYBPC3 | c.1695A>T (p.Lys565Asn) c.1677A>T (p.Lys559Asn) | |
| 11 | g.47342086T>C | CA474218964 | MYBPC3 | c.1695A>G (p.Lys565=) c.1677A>G (p.Lys559=) | |
| 11 | g.47342086T>G | CA380324355 | MYBPC3 | c.1695A>C (p.Lys565Asn) c.1677A>C (p.Lys559Asn) | |
| 11 | g.47342087T>A | CA380324356 | MYBPC3 | c.1694A>T (p.Lys565Ile) c.1676A>T (p.Lys559Ile) | |
| 11 | g.47342087T>C | CA380324357 | MYBPC3 | c.1694A>G (p.Lys565Arg) c.1676A>G (p.Lys559Arg) | ClinVar dbSNP |
| 11 | g.47342087T>G | CA380324358 | MYBPC3 | c.1694A>C (p.Lys565Thr) c.1676A>C (p.Lys559Thr) | |
| 11 | g.47342087T= | CA1969335364 | MYBPC3 | c.1694A= (p.Lys565=) c.1676A= (p.Lys559=) | |
| 11 | g.47342088T>A | CA010936 | MYBPC3 | c.1693A>T (p.Lys565Ter) c.1675A>T (p.Lys559Ter) | ClinVar dbSNP |
| 11 | g.47342088T>C | CA380324360 | MYBPC3 | c.1693A>G (p.Lys565Glu) c.1675A>G (p.Lys559Glu) | |
| 11 | g.47342088T>G | CA380324359 | MYBPC3 | c.1693A>C (p.Lys565Gln) c.1675A>C (p.Lys559Gln) | |
| 11 | g.47342088T= | CA1969335365 | MYBPC3 | c.1693A= (p.Lys565=) c.1675A= (p.Lys559=) | |
| 11 | g.47342089G>A | CA474218972 | MYBPC3 | c.1692C>T (p.Phe564=) c.1674C>T (p.Phe558=) | |
| 11 | g.47342089G>C | CA380324361 | MYBPC3 | c.1692C>G (p.Phe564Leu) c.1674C>G (p.Phe558Leu) | ClinVar |
| 11 | g.47342089G>T | CA380324362 | MYBPC3 | c.1692C>A (p.Phe564Leu) c.1674C>A (p.Phe558Leu) | ClinVar |
| 11 | g.47342090A>C | CA380324363 | MYBPC3 | c.1691T>G (p.Phe564Cys) c.1673T>G (p.Phe558Cys) | |
| 11 | g.47342090A>G | CA380324364 | MYBPC3 | c.1691T>C (p.Phe564Ser) c.1673T>C (p.Phe558Ser) | |
| 11 | g.47342090A>T | CA380324365 | MYBPC3 | c.1691T>A (p.Phe564Tyr) c.1673T>A (p.Phe558Tyr) | |
| 11 | g.47342090_47342183del | CA273865 | MYBPC3 | c.1625-27_1691del c.1607-27_1673del | |
| 11 | g.47342091A>C | CA380324366 | MYBPC3 | c.1690T>G (p.Phe564Val) c.1672T>G (p.Phe558Val) | |
| 11 | g.47342091A>G | CA380324367 | MYBPC3 | c.1690T>C (p.Phe564Leu) c.1672T>C (p.Phe558Leu) | gnomAD v4 |
| 11 | g.47342091A>T | CA380324368 | MYBPC3 | c.1690T>A (p.Phe564Ile) c.1672T>A (p.Phe558Ile) | |
| 11 | g.47342092C>A | CA474218975 | MYBPC3 | c.1689G>T (p.Val563=) c.1671G>T (p.Val557=) | |
| 11 | g.47342092C= | CA1969335367 | MYBPC3 | c.1689G= (p.Val563=) c.1671G= (p.Val557=) | |
| 11 | g.47342092C>G | CA474218974 | MYBPC3 | c.1689G>C (p.Val563=) c.1671G>C (p.Val557=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342092C>T | CA078269 | MYBPC3 | c.1689G>A (p.Val563=) c.1671G>A (p.Val557=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342093A>C | CA380324369 | MYBPC3 | c.1688T>G (p.Val563Gly) c.1670T>G (p.Val557Gly) | |
| 11 | g.47342093A>G | CA380324370 | MYBPC3 | c.1688T>C (p.Val563Ala) c.1670T>C (p.Val557Ala) | |
| 11 | g.47342093A>T | CA380324371 | MYBPC3 | c.1688T>A (p.Val563Glu) c.1670T>A (p.Val557Glu) | |
| 11 | g.47342093_47342094delinsAC | CA1969335368 | MYBPC3 | c.1687_1688delinsGT (p.Val563=) c.1669_1670delinsGT (p.Val557=) | |
| 11 | g.47342094C>A | CA380324374 | MYBPC3 | c.1687G>T (p.Val563Leu) c.1669G>T (p.Val557Leu) | ClinVar dbSNP |
| 11 | g.47342094C>G | CA380324373 | MYBPC3 | c.1687G>C (p.Val563Leu) c.1669G>C (p.Val557Leu) | |
| 11 | g.47342094C>T | CA380324372 | MYBPC3 | c.1687G>A (p.Val563Met) c.1669G>A (p.Val557Met) | ClinVar dbSNP |
| 11 | g.47342095del | CA10581160 | MYBPC3 | c.1687del (p.Val563CysfsTer16) c.1669del (p.Val557CysfsTer16) | ClinVar dbSNP |
| 11 | g.47342095C>A | CA474218980 | MYBPC3 | c.1686G>T (p.Ala562=) c.1668G>T (p.Ala556=) | ClinVar dbSNP |
| 11 | g.47342095C= | CA1969335372 | MYBPC3 | c.1686G= (p.Ala562=) c.1668G= (p.Ala556=) | |
| 11 | g.47342095C>G | CA474218981 | MYBPC3 | c.1686G>C (p.Ala562=) c.1668G>C (p.Ala556=) | |
| 11 | g.47342095C>T | CA046469 | MYBPC3 | c.1686G>A (p.Ala562=) c.1668G>A (p.Ala556=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342096G>A | CA078267 | MYBPC3 | c.1685C>T (p.Ala562Val) c.1667C>T (p.Ala556Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342096G>C | CA380324375 | MYBPC3 | c.1685C>G (p.Ala562Gly) c.1667C>G (p.Ala556Gly) | |
| 11 | g.47342096G= | CA1969335375 | MYBPC3 | c.1685C= (p.Ala562=) c.1667C= (p.Ala556=) | |
| 11 | g.47342096G>T | CA010925 | MYBPC3 | c.1685C>A (p.Ala562Glu) c.1667C>A (p.Ala556Glu) | ClinVar dbSNP |
| 11 | g.47342097C>A | CA380324376 | MYBPC3 | c.1684G>T (p.Ala562Ser) c.1666G>T (p.Ala556Ser) | |
| 11 | g.47342097C= | CA1969335376 | MYBPC3 | c.1684G= (p.Ala562=) c.1666G= (p.Ala556=) | |
| 11 | g.47342097C>G | CA380324377 | MYBPC3 | c.1684G>C (p.Ala562Pro) c.1666G>C (p.Ala556Pro) | |
| 11 | g.47342097C>T | CA010915 | MYBPC3 | c.1684G>A (p.Ala562Thr) c.1666G>A (p.Ala556Thr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342098C>A | CA380324378 | MYBPC3 | c.1683G>T (p.Gln561His) c.1665G>T (p.Gln555His) | |
| 11 | g.47342098C>G | CA380324379 | MYBPC3 | c.1683G>C (p.Gln561His) c.1665G>C (p.Gln555His) | |
| 11 | g.47342098C>T | CA046461 | MYBPC3 | c.1683G>A (p.Gln561=) c.1665G>A (p.Gln555=) | |
| 11 | g.47342099T>A | CA380324380 | MYBPC3 | c.1682A>T (p.Gln561Leu) c.1664A>T (p.Gln555Leu) | |
| 11 | g.47342099T>C | CA380324381 | MYBPC3 | c.1682A>G (p.Gln561Arg) c.1664A>G (p.Gln555Arg) | |
| 11 | g.47342099T>G | CA380324382 | MYBPC3 | c.1682A>C (p.Gln561Pro) c.1664A>C (p.Gln555Pro) | |
| 11 | g.47342100G>A | CA380324383 | MYBPC3 | c.1681C>T (p.Gln561Ter) c.1663C>T (p.Gln555Ter) | |
| 11 | g.47342100G>C | CA380324384 | MYBPC3 | c.1681C>G (p.Gln561Glu) c.1663C>G (p.Gln555Glu) | |
| 11 | g.47342100G>T | CA380324385 | MYBPC3 | c.1681C>A (p.Gln561Lys) c.1663C>A (p.Gln555Lys) | |
| 11 | g.47342101G>A | CA474218987 | MYBPC3 | c.1680C>T (p.Asp560=) c.1662C>T (p.Asp554=) | COSMIC COSMIC |
| 11 | g.47342101G>C | CA380324386 | MYBPC3 | c.1680C>G (p.Asp560Glu) c.1662C>G (p.Asp554Glu) | |
| 11 | g.47342101G>T | CA380324387 | MYBPC3 | c.1680C>A (p.Asp560Glu) c.1662C>A (p.Asp554Glu) | |
| 11 | g.47342102T>A | CA380324388 | MYBPC3 | c.1679A>T (p.Asp560Val) c.1661A>T (p.Asp554Val) | ClinVar |
| 11 | g.47342102T>C | CA380324389 | MYBPC3 | c.1679A>G (p.Asp560Gly) c.1661A>G (p.Asp554Gly) | |
| 11 | g.47342102T>G | CA380324390 | MYBPC3 | c.1679A>C (p.Asp560Ala) c.1661A>C (p.Asp554Ala) | |
| 11 | g.47342102_47342103delinsTC | CA1969335378 | MYBPC3 | c.1678_1679delinsGA (p.Asp560=) c.1660_1661delinsGA (p.Asp554=) | |
| 11 | g.47342103C>A | CA380324391 | MYBPC3 | c.1678G>T (p.Asp560Tyr) c.1660G>T (p.Asp554Tyr) | ClinVar gnomAD v4 |
| 11 | g.47342103C= | CA1969335380 | MYBPC3 | c.1678G= (p.Asp560=) c.1660G= (p.Asp554=) | |
| 11 | g.47342103C>G | CA078264 | MYBPC3 | c.1678G>C (p.Asp560His) c.1660G>C (p.Asp554His) | ClinVar dbSNP ExAC gnomAD v4 |
| 11 | g.47342103C>T | CA380324392 | MYBPC3 | c.1678G>A (p.Asp560Asn) c.1660G>A (p.Asp554Asn) | COSMIC COSMIC |
| 11 | g.47342104del | CA010909 | MYBPC3 | c.1678del (p.Asp560ThrfsTer19) c.1660del (p.Asp554ThrfsTer19) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342104C>A | CA380324393 | MYBPC3 | c.1677G>T (p.Lys559Asn) c.1659G>T (p.Lys553Asn) | |
| 11 | g.47342104C= | CA1969335382 | MYBPC3 | c.1677G= (p.Lys559=) c.1659G= (p.Lys553=) | |
| 11 | g.47342104C>G | CA380324394 | MYBPC3 | c.1677G>C (p.Lys559Asn) c.1659G>C (p.Lys553Asn) | |
| 11 | g.47342104C>T | CA078262 | MYBPC3 | c.1677G>A (p.Lys559=) c.1659G>A (p.Lys553=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342105T>A | CA380324395 | MYBPC3 | c.1676A>T (p.Lys559Met) c.1658A>T (p.Lys553Met) | |
| 11 | g.47342105T>C | CA380324396 | MYBPC3 | c.1676A>G (p.Lys559Arg) c.1658A>G (p.Lys553Arg) | gnomAD v4 |
| 11 | g.47342105T>G | CA380324397 | MYBPC3 | c.1676A>C (p.Lys559Thr) c.1658A>C (p.Lys553Thr) | |
| 11 | g.47342106T>A | CA380324398 | MYBPC3 | c.1675A>T (p.Lys559Ter) c.1657A>T (p.Lys553Ter) | |
| 11 | g.47342106T>C | CA380324400 | MYBPC3 | c.1675A>G (p.Lys559Glu) c.1657A>G (p.Lys553Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342106T>G | CA380324399 | MYBPC3 | c.1675A>C (p.Lys559Gln) c.1657A>C (p.Lys553Gln) | |
| 11 | g.47342106T= | CA1969335384 | MYBPC3 | c.1675A= (p.Lys559=) c.1657A= (p.Lys553=) | |
| 11 | g.47342107T>A | CA474219000 | MYBPC3 | c.1674A>T (p.Ala558=) c.1656A>T (p.Ala552=) | |
| 11 | g.47342107T>C | CA474219001 | MYBPC3 | c.1674A>G (p.Ala558=) c.1656A>G (p.Ala552=) | |
| 11 | g.47342107T>G | CA474219002 | MYBPC3 | c.1674A>C (p.Ala558=) c.1656A>C (p.Ala552=) | |
| 11 | g.47342108G>A | CA380324401 | MYBPC3 | c.1673C>T (p.Ala558Val) c.1655C>T (p.Ala552Val) | |
| 11 | g.47342108G>C | CA380324402 | MYBPC3 | c.1673C>G (p.Ala558Gly) c.1655C>G (p.Ala552Gly) | |
| 11 | g.47342108G>T | CA380324403 | MYBPC3 | c.1673C>A (p.Ala558Glu) c.1655C>A (p.Ala552Glu) | |
| 11 | g.47342110_47342111del | CA2695212785 | MYBPC3 | c.1672_1673del (p.Ala558LysfsTer9) c.1654_1655del (p.Ala552LysfsTer9) | |
| 11 | g.47342109C>A | CA380324404 | MYBPC3 | c.1672G>T (p.Ala558Ser) c.1654G>T (p.Ala552Ser) | |
| 11 | g.47342109C= | CA1969335386 | MYBPC3 | c.1672G= (p.Ala558=) c.1654G= (p.Ala552=) | |
| 11 | g.47342109C>G | CA380324405 | MYBPC3 | c.1672G>C (p.Ala558Pro) c.1654G>C (p.Ala552Pro) | |
| 11 | g.47342109C>T | CA010902 | MYBPC3 | c.1672G>A (p.Ala558Thr) c.1654G>A (p.Ala552Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342110G>A | CA078259 | MYBPC3 | c.1671C>T (p.Gly557=) c.1653C>T (p.Gly551=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47342110G>C | CA474219007 | MYBPC3 | c.1671C>G (p.Gly557=) c.1653C>G (p.Gly551=) | |
| 11 | g.47342110G= | CA1969335389 | MYBPC3 | c.1671C= (p.Gly557=) c.1653C= (p.Gly551=) | |
| 11 | g.47342110G>T | CA474219006 | MYBPC3 | c.1671C>A (p.Gly557=) c.1653C>A (p.Gly551=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342111C>A | CA380324406 | MYBPC3 | c.1670G>T (p.Gly557Val) c.1652G>T (p.Gly551Val) | COSMIC |
| 11 | g.47342111C= | CA1969335392 | MYBPC3 | c.1670G= (p.Gly557=) c.1652G= (p.Gly551=) | |
| 11 | g.47342111C>G | CA380324407 | MYBPC3 | c.1670G>C (p.Gly557Ala) c.1652G>C (p.Gly551Ala) | |
| 11 | g.47342111C>T | CA010893 | MYBPC3 | c.1670G>A (p.Gly557Asp) c.1652G>A (p.Gly551Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342113dup | CA915940857 | MYBPC3 | c.1670dup (p.Ala558ArgfsTer10) c.1652dup (p.Ala552ArgfsTer10) | |
| 11 | g.47342113del | CA2695212786 | MYBPC3 | c.1670del (p.Gly557AlafsTer22) c.1652del (p.Gly551AlafsTer22) | |
| 11 | g.47342112C>A | CA380324408 | MYBPC3 | c.1669G>T (p.Gly557Cys) c.1651G>T (p.Gly551Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342112C= | CA1969335395 | MYBPC3 | c.1669G= (p.Gly557=) c.1651G= (p.Gly551=) | |
| 11 | g.47342112C>G | CA380324409 | MYBPC3 | c.1669G>C (p.Gly557Arg) c.1651G>C (p.Gly551Arg) | |
| 11 | g.47342112C>T | CA010880 | MYBPC3 | c.1669G>A (p.Gly557Ser) c.1651G>A (p.Gly551Ser) | ClinVar dbSNP |
| 11 | g.47342113C>A | CA474219010 | MYBPC3 | c.1668G>T (p.Val556=) c.1650G>T (p.Val550=) | |
| 11 | g.47342113C>G | CA474219011 | MYBPC3 | c.1668G>C (p.Val556=) c.1650G>C (p.Val550=) | |
| 11 | g.47342113C>T | CA474219012 | MYBPC3 | c.1668G>A (p.Val556=) c.1650G>A (p.Val550=) | gnomAD v4 |
| 11 | g.47342114A= | CA1969335398 | MYBPC3 | c.1667T= (p.Val556=) c.1649T= (p.Val550=) | |
| 11 | g.47342114A>C | CA380324412 | MYBPC3 | c.1667T>G (p.Val556Gly) c.1649T>G (p.Val550Gly) | dbSNP |
| 11 | g.47342114A>G | CA380324410 | MYBPC3 | c.1667T>C (p.Val556Ala) c.1649T>C (p.Val550Ala) | |
| 11 | g.47342114A>T | CA380324411 | MYBPC3 | c.1667T>A (p.Val556Glu) c.1649T>A (p.Val550Glu) | |
| 11 | g.47342115C>A | CA380324413 | MYBPC3 | c.1666G>T (p.Val556Leu) c.1648G>T (p.Val550Leu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342115C>G | CA380324414 | MYBPC3 | c.1666G>C (p.Val556Leu) c.1648G>C (p.Val550Leu) | |
| 11 | g.47342115C>T | CA380324415 | MYBPC3 | c.1666G>A (p.Val556Met) c.1648G>A (p.Val550Met) | |
| 11 | g.47342116del | CA2580084232 | MYBPC3 | c.1666del (p.Val556TrpfsTer23) c.1648del (p.Val550TrpfsTer23) | ClinVar |
| 11 | g.47342116C>A | CA380324416 | MYBPC3 | c.1665G>T (p.Met555Ile) c.1647G>T (p.Met549Ile) | |
| 11 | g.47342116C= | CA1969335400 | MYBPC3 | c.1665G= (p.Met555=) c.1647G= (p.Met549=) | |
| 11 | g.47342116C>G | CA380324417 | MYBPC3 | c.1665G>C (p.Met555Ile) c.1647G>C (p.Met549Ile) | |
| 11 | g.47342116C>T | CA380324418 | MYBPC3 | c.1665G>A (p.Met555Ile) c.1647G>A (p.Met549Ile) | dbSNP |
| 11 | g.47342117A= | CA1969335402 | MYBPC3 | c.1664T= (p.Met555=) c.1646T= (p.Met549=) | |
| 11 | g.47342117A>C | CA380324419 | MYBPC3 | c.1664T>G (p.Met555Arg) c.1646T>G (p.Met549Arg) | |
| 11 | g.47342117A>G | CA010870 | MYBPC3 | c.1664T>C (p.Met555Thr) c.1646T>C (p.Met549Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342117A>T | CA380324420 | MYBPC3 | c.1664T>A (p.Met555Lys) c.1646T>A (p.Met549Lys) | |
| 11 | g.47342118T>A | CA380324421 | MYBPC3 | c.1663A>T (p.Met555Leu) c.1645A>T (p.Met549Leu) | gnomAD v4 |
| 11 | g.47342118T>C | CA380324422 | MYBPC3 | c.1663A>G (p.Met555Val) c.1645A>G (p.Met549Val) | |
| 11 | g.47342118T>G | CA380324423 | MYBPC3 | c.1663A>C (p.Met555Leu) c.1645A>C (p.Met549Leu) | |
| 11 | g.47342119C>A | CA474219025 | MYBPC3 | c.1662G>T (p.Leu554=) c.1644G>T (p.Leu548=) | |
| 11 | g.47342119C>G | CA474219023 | MYBPC3 | c.1662G>C (p.Leu554=) c.1644G>C (p.Leu548=) | gnomAD v4 |
| 11 | g.47342119C>T | CA474219024 | MYBPC3 | c.1662G>A (p.Leu554=) c.1644G>A (p.Leu548=) | |
| 11 | g.47342120A>C | CA380324424 | MYBPC3 | c.1661T>G (p.Leu554Arg) c.1643T>G (p.Leu548Arg) | |
| 11 | g.47342120A>G | CA046363 | MYBPC3 | c.1661T>C (p.Leu554Pro) c.1643T>C (p.Leu548Pro) | |
| 11 | g.47342120A>T | CA380324425 | MYBPC3 | c.1661T>A (p.Leu554Gln) c.1643T>A (p.Leu548Gln) | ClinVar gnomAD v4 |
| 11 | g.47342121G>A | CA474219027 | MYBPC3 | c.1660C>T (p.Leu554=) c.1642C>T (p.Leu548=) | |
| 11 | g.47342121G>C | CA380324426 | MYBPC3 | c.1660C>G (p.Leu554Val) c.1642C>G (p.Leu548Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342121G= | CA1969335404 | MYBPC3 | c.1660C= (p.Leu554=) c.1642C= (p.Leu548=) | |
| 11 | g.47342121G>T | CA380324427 | MYBPC3 | c.1660C>A (p.Leu554Met) c.1642C>A (p.Leu548Met) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342122G>A | CA474219028 | MYBPC3 | c.1659C>T (p.Asp553=) c.1641C>T (p.Asp547=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342122G>C | CA380324428 | MYBPC3 | c.1659C>G (p.Asp553Glu) c.1641C>G (p.Asp547Glu) | |
| 11 | g.47342122G= | CA1969335406 | MYBPC3 | c.1659C= (p.Asp553=) c.1641C= (p.Asp547=) | |
| 11 | g.47342122G>T | CA380324429 | MYBPC3 | c.1659C>A (p.Asp553Glu) c.1641C>A (p.Asp547Glu) | |
| 11 | g.47342123T>A | CA380324430 | MYBPC3 | c.1658A>T (p.Asp553Val) c.1640A>T (p.Asp547Val) | ClinVar |
| 11 | g.47342123T>C | CA380324431 | MYBPC3 | c.1658A>G (p.Asp553Gly) c.1640A>G (p.Asp547Gly) | |
| 11 | g.47342123T>G | CA380324432 | MYBPC3 | c.1658A>C (p.Asp553Ala) c.1640A>C (p.Asp547Ala) | |
| 11 | g.47342124C>A | CA380324433 | MYBPC3 | c.1657G>T (p.Asp553Tyr) c.1639G>T (p.Asp547Tyr) | |
| 11 | g.47342124C>G | CA380324435 | MYBPC3 | c.1657G>C (p.Asp553His) c.1639G>C (p.Asp547His) | |
| 11 | g.47342124C>T | CA380324434 | MYBPC3 | c.1657G>A (p.Asp553Asn) c.1639G>A (p.Asp547Asn) | |
| 11 | g.47342124_47342128del | CA2695212787 | MYBPC3 | c.1653_1657del (p.Ala552ProfsTer14) c.1635_1639del (p.Ala546ProfsTer14) | |
| 11 | g.47342124_47342129delinsCTGCGA | CA1969335407 | MYBPC3 | c.1652_1657delinsTCGCAG (p.Ile551=) c.1634_1639delinsTCGCAG (p.Ile545=) | |
| 11 | g.47342125T>A | CA474219035 | MYBPC3 | c.1656A>T (p.Ala552=) c.1638A>T (p.Ala546=) | |
| 11 | g.47342125T>C | CA474219036 | MYBPC3 | c.1656A>G (p.Ala552=) c.1638A>G (p.Ala546=) | |
| 11 | g.47342125T>G | CA474219038 | MYBPC3 | c.1656A>C (p.Ala552=) c.1638A>C (p.Ala546=) | |
| 11 | g.47342128_47342132del | CA010853 | MYBPC3 | c.1652_1656del (p.Ile551ArgfsTer15) c.1634_1638del (p.Ile545ArgfsTer15) | ClinVar dbSNP |
| 11 | g.47342126G>A | CA380324436 | MYBPC3 | c.1655C>T (p.Ala552Val) c.1637C>T (p.Ala546Val) | dbSNP gnomAD v4 |
| 11 | g.47342126G>C | CA380324437 | MYBPC3 | c.1655C>G (p.Ala552Gly) c.1637C>G (p.Ala546Gly) | |
| 11 | g.47342126G= | CA1969335409 | MYBPC3 | c.1655C= (p.Ala552=) c.1637C= (p.Ala546=) | |
| 11 | g.47342126G>T | CA380324438 | MYBPC3 | c.1655C>A (p.Ala552Glu) c.1637C>A (p.Ala546Glu) | |
| 11 | g.47342127C>A | CA010861 | MYBPC3 | c.1654G>T (p.Ala552Ser) c.1636G>T (p.Ala546Ser) | ClinVar dbSNP |
| 11 | g.47342127C= | CA1969335410 | MYBPC3 | c.1654G= (p.Ala552=) c.1636G= (p.Ala546=) | |
| 11 | g.47342127C>G | CA380324439 | MYBPC3 | c.1654G>C (p.Ala552Pro) c.1636G>C (p.Ala546Pro) | |
| 11 | g.47342127C>T | CA380324440 | MYBPC3 | c.1654G>A (p.Ala552Thr) c.1636G>A (p.Ala546Thr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342128G>A | CA078254 | MYBPC3 | c.1653C>T (p.Ile551=) c.1635C>T (p.Ile545=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342128G>C | CA380324441 | MYBPC3 | c.1653C>G (p.Ile551Met) c.1635C>G (p.Ile545Met) | |
| 11 | g.47342128G= | CA1969335412 | MYBPC3 | c.1653C= (p.Ile551=) c.1635C= (p.Ile545=) | |
| 11 | g.47342128G>T | CA474219045 | MYBPC3 | c.1653C>A (p.Ile551=) c.1635C>A (p.Ile545=) | |
| 11 | g.47342129A= | CA1969335414 | MYBPC3 | c.1652T= (p.Ile551=) c.1634T= (p.Ile545=) | |
| 11 | g.47342129A>C | CA380324442 | MYBPC3 | c.1652T>G (p.Ile551Ser) c.1634T>G (p.Ile545Ser) | |
| 11 | g.47342129A>G | CA380324443 | MYBPC3 | c.1652T>C (p.Ile551Thr) c.1634T>C (p.Ile545Thr) | |
| 11 | g.47342129A>T | CA221695105 | MYBPC3 | c.1652T>A (p.Ile551Asn) c.1634T>A (p.Ile545Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342130T>A | CA380324444 | MYBPC3 | c.1651A>T (p.Ile551Phe) c.1633A>T (p.Ile545Phe) | |
| 11 | g.47342130T>C | CA380324445 | MYBPC3 | c.1651A>G (p.Ile551Val) c.1633A>G (p.Ile545Val) | |
| 11 | g.47342130T>G | CA380324446 | MYBPC3 | c.1651A>C (p.Ile551Leu) c.1633A>C (p.Ile545Leu) | |
| 11 | g.47342131G>A | CA046335 | MYBPC3 | c.1650C>T (p.Ser550=) c.1632C>T (p.Ser544=) | ClinVar dbSNP |
| 11 | g.47342131G>C | CA380324447 | MYBPC3 | c.1650C>G (p.Ser550Arg) c.1632C>G (p.Ser544Arg) | |
| 11 | g.47342131G= | CA1969335417 | MYBPC3 | c.1650C= (p.Ser550=) c.1632C= (p.Ser544=) | |
| 11 | g.47342131G>T | CA380324448 | MYBPC3 | c.1650C>A (p.Ser550Arg) c.1632C>A (p.Ser544Arg) | |
| 11 | g.47342132C>A | CA380324449 | MYBPC3 | c.1649G>T (p.Ser550Ile) c.1631G>T (p.Ser544Ile) | |
| 11 | g.47342132C= | CA1969335419 | MYBPC3 | c.1649G= (p.Ser550=) c.1631G= (p.Ser544=) | |
| 11 | g.47342132C>G | CA380324450 | MYBPC3 | c.1649G>C (p.Ser550Thr) c.1631G>C (p.Ser544Thr) | gnomAD v4 |
| 11 | g.47342132C>T | CA380324451 | MYBPC3 | c.1649G>A (p.Ser550Asn) c.1631G>A (p.Ser544Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342133T>A | CA380324454 | MYBPC3 | c.1648A>T (p.Ser550Cys) c.1630A>T (p.Ser544Cys) | |
| 11 | g.47342133T>C | CA380324452 | MYBPC3 | c.1648A>G (p.Ser550Gly) c.1630A>G (p.Ser544Gly) | |
| 11 | g.47342133T>G | CA380324453 | MYBPC3 | c.1648A>C (p.Ser550Arg) c.1630A>C (p.Ser544Arg) | |
| 11 | g.47342134C>A | CA380324455 | MYBPC3 | c.1647G>T (p.Gln549His) c.1629G>T (p.Gln543His) | |
| 11 | g.47342134C>G | CA380324456 | MYBPC3 | c.1647G>C (p.Gln549His) c.1629G>C (p.Gln543His) | |
| 11 | g.47342134C>T | CA474219053 | MYBPC3 | c.1647G>A (p.Gln549=) c.1629G>A (p.Gln543=) | dbSNP |
| 11 | g.47342135T>A | CA380324457 | MYBPC3 | c.1646A>T (p.Gln549Leu) c.1628A>T (p.Gln543Leu) | |
| 11 | g.47342135T>C | CA380324458 | MYBPC3 | c.1646A>G (p.Gln549Arg) c.1628A>G (p.Gln543Arg) | |
| 11 | g.47342135T>G | CA380324459 | MYBPC3 | c.1646A>C (p.Gln549Pro) c.1628A>C (p.Gln543Pro) | |
| 11 | g.47342136G>A | CA380324460 | MYBPC3 | c.1645C>T (p.Gln549Ter) c.1627C>T (p.Gln543Ter) | ClinVar dbSNP |
| 11 | g.47342136G>C | CA380324461 | MYBPC3 | c.1645C>G (p.Gln549Glu) c.1627C>G (p.Gln543Glu) | |
| 11 | g.47342136G>T | CA380324462 | MYBPC3 | c.1645C>A (p.Gln549Lys) c.1627C>A (p.Gln543Lys) | |
| 11 | g.47342137G>A | CA474219056 | MYBPC3 | c.1644C>T (p.Tyr548=) c.1626C>T (p.Tyr542=) | |
| 11 | g.47342137G>C | CA380324463 | MYBPC3 | c.1644C>G (p.Tyr548Ter) c.1626C>G (p.Tyr542Ter) | ClinVar dbSNP |
| 11 | g.47342137G= | CA1969335420 | MYBPC3 | c.1644C= (p.Tyr548=) c.1626C= (p.Tyr542=) | |
| 11 | g.47342137G>T | CA380324464 | MYBPC3 | c.1644C>A (p.Tyr548Ter) c.1626C>A (p.Tyr542Ter) | |
| 11 | g.47342137_47342142del | CA2739291466 | MYBPC3 | c.1639_1644del (p.Val547_Tyr548del) c.1621_1626del (p.Val541_Tyr542del) | |
| 11 | g.47342138T>A | CA380324465 | MYBPC3 | c.1643A>T (p.Tyr548Phe) c.1625A>T (p.Tyr542Phe) | |
| 11 | g.47342138T>C | CA380324466 | MYBPC3 | c.1643A>G (p.Tyr548Cys) c.1625A>G (p.Tyr542Cys) | |
| 11 | g.47342138T>G | CA380324467 | MYBPC3 | c.1643A>C (p.Tyr548Ser) c.1625A>C (p.Tyr542Ser) | dbSNP |
| 11 | g.47342138T= | CA1969335424 | MYBPC3 | c.1643A= (p.Tyr548=) c.1625A= (p.Tyr542=) | |
| 11 | g.47342138_47342140delinsTAC | CA1969335422 | MYBPC3 | c.1641_1643delinsGTA (p.Val547=) c.1623_1625delinsGTA (p.Val541=) | |
| 11 | g.47342139A>C | CA380324470 | MYBPC3 | c.1642T>G (p.Tyr548Asp) c.1624T>G (p.Tyr542Asp) | |
| 11 | g.47342139A>G | CA380324468 | MYBPC3 | c.1642T>C (p.Tyr548His) c.1624T>C (p.Tyr542His) | gnomAD v4 |
| 11 | g.47342139A>T | CA380324469 | MYBPC3 | c.1642T>A (p.Tyr548Asn) c.1624T>A (p.Tyr542Asn) | |
| 11 | g.47342139_47342140delinsAC | CA1969335426 | MYBPC3 | c.1641_1642delinsGT (p.Val547=) c.1623_1624delinsGT (p.Val541=) | |
| 11 | g.47342141_47342142del | CA010839 | MYBPC3 | c.1641_1642del (p.Tyr548ProfsTer19) c.1623_1624del (p.Tyr542ProfsTer19) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342140del | CA918872670 | MYBPC3 | c.1641del (p.Tyr548ThrfsTer7) c.1623del (p.Tyr542ThrfsTer7) | dbSNP |
| 11 | g.47342140C>A | CA474219064 | MYBPC3 | c.1641G>T (p.Val547=) c.1623G>T (p.Val541=) | |
| 11 | g.47342140C= | CA1969335428 | MYBPC3 | c.1641G= (p.Val547=) c.1623G= (p.Val541=) | |
| 11 | g.47342140C>G | CA474219066 | MYBPC3 | c.1641G>C (p.Val547=) c.1623G>C (p.Val541=) | |
| 11 | g.47342140C>T | CA010844 | MYBPC3 | c.1641G>A (p.Val547=) c.1623G>A (p.Val541=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342140_47342148delinsCACCTCCAG | CA1969335429 | MYBPC3 | c.1633_1641delinsCTGGAGGTG (p.Leu545=) c.1615_1623delinsCTGGAGGTG (p.Leu539=) | |
| 11 | g.47342141A>C | CA380324471 | MYBPC3 | c.1640T>G (p.Val547Gly) c.1622T>G (p.Val541Gly) | |
| 11 | g.47342141A>G | CA380324472 | MYBPC3 | c.1640T>C (p.Val547Ala) c.1622T>C (p.Val541Ala) | |
| 11 | g.47342141A>T | CA380324473 | MYBPC3 | c.1640T>A (p.Val547Glu) c.1622T>A (p.Val541Glu) | |
| 11 | g.47342141_47342142delinsAC | CA1969335432 | MYBPC3 | c.1639_1640delinsGT (p.Val547=) c.1621_1622delinsGT (p.Val541=) | |
| 11 | g.47342141_47342148del | CA10582918 | MYBPC3 | c.1633_1640del (p.Leu545ValfsTer20) c.1615_1622del (p.Leu539ValfsTer20) | ClinVar dbSNP |
| 11 | g.47342142C>A | CA380324474 | MYBPC3 | c.1639G>T (p.Val547Leu) c.1621G>T (p.Val541Leu) | |
| 11 | g.47342142C= | CA1969335435 | MYBPC3 | c.1639G= (p.Val547=) c.1621G= (p.Val541=) | |
| 11 | g.47342142C>G | CA380324475 | MYBPC3 | c.1639G>C (p.Val547Leu) c.1621G>C (p.Val541Leu) | |
| 11 | g.47342142C>T | CA078253 | MYBPC3 | c.1639G>A (p.Val547Met) c.1621G>A (p.Val541Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342143del | CA078250 | MYBPC3 | c.1639del (p.Val547CysfsTer8) c.1621del (p.Val541CysfsTer8) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342144_47342146del | CA2613402030 | MYBPC3 | c.1637_1639del (p.Glu546del) c.1619_1621del (p.Glu540del) | gnomAD v4 |
| 11 | g.47342143C>A | CA380324476 | MYBPC3 | c.1638G>T (p.Glu546Asp) c.1620G>T (p.Glu540Asp) | |
| 11 | g.47342143C= | CA1969335438 | MYBPC3 | c.1638G= (p.Glu546=) c.1620G= (p.Glu540=) | |
| 11 | g.47342143C>G | CA380324477 | MYBPC3 | c.1638G>C (p.Glu546Asp) c.1620G>C (p.Glu540Asp) | |
| 11 | g.47342143C>T | CA221695127 | MYBPC3 | c.1638G>A (p.Glu546=) c.1620G>A (p.Glu540=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342144T>A | CA380324478 | MYBPC3 | c.1637A>T (p.Glu546Val) c.1619A>T (p.Glu540Val) | |
| 11 | g.47342144T>C | CA380324480 | MYBPC3 | c.1637A>G (p.Glu546Gly) c.1619A>G (p.Glu540Gly) | |
| 11 | g.47342144T>G | CA380324479 | MYBPC3 | c.1637A>C (p.Glu546Ala) c.1619A>C (p.Glu540Ala) | |
| 11 | g.47342145C>A | CA380324481 | MYBPC3 | c.1636G>T (p.Glu546Ter) c.1618G>T (p.Glu540Ter) | dbSNP gnomAD v2 |
| 11 | g.47342145C= | CA1969335441 | MYBPC3 | c.1636G= (p.Glu546=) c.1618G= (p.Glu540=) | |
| 11 | g.47342145C>G | CA380324482 | MYBPC3 | c.1636G>C (p.Glu546Gln) c.1618G>C (p.Glu540Gln) | |
| 11 | g.47342145C>T | CA046317 | MYBPC3 | c.1636G>A (p.Glu546Lys) c.1618G>A (p.Glu540Lys) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342146del | CA046299 | MYBPC3 | c.1636del (p.Glu546ArgfsTer9) c.1618del (p.Glu540ArgfsTer9) | |
| 11 | g.47342146C>A | CA474219079 | MYBPC3 | c.1635G>T (p.Leu545=) c.1617G>T (p.Leu539=) | |
| 11 | g.47342146C>G | CA474219080 | MYBPC3 | c.1635G>C (p.Leu545=) c.1617G>C (p.Leu539=) | |
| 11 | g.47342146C>T | CA474219081 | MYBPC3 | c.1635G>A (p.Leu545=) c.1617G>A (p.Leu539=) | |
| 11 | g.47342147A>C | CA380324483 | MYBPC3 | c.1634T>G (p.Leu545Arg) c.1616T>G (p.Leu539Arg) | ClinVar |
| 11 | g.47342147A>G | CA380324484 | MYBPC3 | c.1634T>C (p.Leu545Pro) c.1616T>C (p.Leu539Pro) | |
| 11 | g.47342147A>T | CA380324485 | MYBPC3 | c.1634T>A (p.Leu545Gln) c.1616T>A (p.Leu539Gln) | |
| 11 | g.47342148G>A | CA474219084 | MYBPC3 | c.1633C>T (p.Leu545=) c.1615C>T (p.Leu539=) | |
| 11 | g.47342148G>C | CA380324486 | MYBPC3 | c.1633C>G (p.Leu545Val) c.1615C>G (p.Leu539Val) | |
| 11 | g.47342148G= | CA1969335445 | MYBPC3 | c.1633C= (p.Leu545=) c.1615C= (p.Leu539=) | |
| 11 | g.47342148G>T | CA010830 | MYBPC3 | c.1633C>A (p.Leu545Met) c.1615C>A (p.Leu539Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342148_47342151delinsGCTT | CA1969335447 | MYBPC3 | c.1630_1633delinsAAGC (p.Lys544=) c.1612_1615delinsAAGC (p.Lys538=) | |
| 11 | g.47342149C>A | CA380324487 | MYBPC3 | c.1632G>T (p.Lys544Asn) c.1614G>T (p.Lys538Asn) | |
| 11 | g.47342149C>G | CA380324488 | MYBPC3 | c.1632G>C (p.Lys544Asn) c.1614G>C (p.Lys538Asn) | ClinVar |
| 11 | g.47342149C>T | CA474219089 | MYBPC3 | c.1632G>A (p.Lys544=) c.1614G>A (p.Lys538=) | ClinVar |
| 11 | g.47342152_47342154del | CA658797631 | MYBPC3 | c.1630_1632del (p.Lys544del) c.1612_1614del (p.Lys538del) | ClinVar dbSNP |
| 11 | g.47342150T>A | CA380324489 | MYBPC3 | c.1631A>T (p.Lys544Met) c.1613A>T (p.Lys538Met) | |
| 11 | g.47342150T>C | CA380324490 | MYBPC3 | c.1631A>G (p.Lys544Arg) c.1613A>G (p.Lys538Arg) | |
| 11 | g.47342150T>G | CA380324491 | MYBPC3 | c.1631A>C (p.Lys544Thr) c.1613A>C (p.Lys538Thr) | |
| 11 | g.47342151T>A | CA380324494 | MYBPC3 | c.1630A>T (p.Lys544Ter) c.1612A>T (p.Lys538Ter) | |
| 11 | g.47342151T>C | CA380324493 | MYBPC3 | c.1630A>G (p.Lys544Glu) c.1612A>G (p.Lys538Glu) | |
| 11 | g.47342151T>G | CA380324492 | MYBPC3 | c.1630A>C (p.Lys544Gln) c.1612A>C (p.Lys538Gln) | |
| 11 | g.47342152C>A | CA380324495 | MYBPC3 | c.1629G>T (p.Lys543Asn) c.1611G>T (p.Lys537Asn) | |
| 11 | g.47342152C>G | CA380324496 | MYBPC3 | c.1629G>C (p.Lys543Asn) c.1611G>C (p.Lys537Asn) | |
| 11 | g.47342152C>T | CA474219092 | MYBPC3 | c.1629G>A (p.Lys543=) c.1611G>A (p.Lys537=) | COSMIC COSMIC |
| 11 | g.47342152_47342153delinsCT | CA1969335452 | MYBPC3 | c.1628_1629delinsAG (p.Lys543=) c.1610_1611delinsAG (p.Lys537=) | |
| 11 | g.47342153T>A | CA380324497 | MYBPC3 | c.1628A>T (p.Lys543Met) c.1610A>T (p.Lys537Met) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342153T>C | CA380324498 | MYBPC3 | c.1628A>G (p.Lys543Arg) c.1610A>G (p.Lys537Arg) | |
| 11 | g.47342153T>G | CA380324499 | MYBPC3 | c.1628A>C (p.Lys543Thr) c.1610A>C (p.Lys537Thr) | |
| 11 | g.47342153T= | CA1969335457 | MYBPC3 | c.1628A= (p.Lys543=) c.1610A= (p.Lys537=) | |
| 11 | g.47342156del | CA010821 | MYBPC3 | c.1628del (p.Lys543ArgfsTer12) c.1610del (p.Lys537ArgfsTer12) | ClinVar dbSNP |
| 11 | g.47342154T>A | CA380324500 | MYBPC3 | c.1627A>T (p.Lys543Ter) c.1609A>T (p.Lys537Ter) | |
| 11 | g.47342154T>C | CA380324501 | MYBPC3 | c.1627A>G (p.Lys543Glu) c.1609A>G (p.Lys537Glu) | |
| 11 | g.47342154T>G | CA380324502 | MYBPC3 | c.1627A>C (p.Lys543Gln) c.1609A>C (p.Lys537Gln) | |
| 11 | g.47342155T>A | CA380324503 | MYBPC3 | c.1626A>T (p.Glu542Asp) c.1608A>T (p.Glu536Asp) | |
| 11 | g.47342155T>C | CA474219101 | MYBPC3 | c.1626A>G (p.Glu542=) c.1608A>G (p.Glu536=) | |
| 11 | g.47342155T>G | CA380324504 | MYBPC3 | c.1626A>C (p.Glu542Asp) c.1608A>C (p.Glu536Asp) | |
| 11 | g.47342156T>A | CA380324506 | MYBPC3 | c.1625A>T (p.Glu542Val) c.1607A>T (p.Glu536Val) | |
| 11 | g.47342156T>C | CA380324507 | MYBPC3 | c.1625A>G (p.Glu542Gly) c.1607A>G (p.Glu536Gly) | |
| 11 | g.47342156T>G | CA380324505 | MYBPC3 | c.1625A>C (p.Glu542Ala) c.1607A>C (p.Glu536Ala) | |
| 11 | g.47342157C>A | CA380324508 | MYBPC3 | c.1625-1G>T (n.1625-1G>T) c.1607-1G>T (n.1607-1G>T) | |
| 11 | g.47342157C= | CA1969335460 | MYBPC3 | c.1625-1G= (n.1625-1G=) c.1607-1G= (n.1607-1G=) | |
| 11 | g.47342157C>G | CA380324509 | MYBPC3 | c.1625-1G>C (n.1625-1G>C) c.1607-1G>C (n.1607-1G>C) | gnomAD v4 |
| 11 | g.47342157C>T | CA352004 | MYBPC3 | c.1625-1G>A (n.1625-1G>A) c.1607-1G>A (n.1607-1G>A) | ClinVar dbSNP |
| 11 | g.47342158T>A | CA380324510 | MYBPC3 | c.1625-2A>T (n.1625-2A>T) c.1607-2A>T (n.1607-2A>T) | |
| 11 | g.47342158T>C | CA221695155 | MYBPC3 | c.1625-2A>G (n.1625-2A>G) c.1607-2A>G (n.1607-2A>G) | ClinVar dbSNP |
| 11 | g.47342158T>G | CA380324511 | MYBPC3 | c.1625-2A>C (n.1625-2A>C) c.1607-2A>C (n.1607-2A>C) | ClinVar |
| 11 | g.47342158T= | CA1969335463 | MYBPC3 | c.1625-2A= (n.1625-2A=) c.1607-2A= (n.1607-2A=) | |
| 11 | g.47342168_47342172dup | CA2613402049 | MYBPC3 | c.1625-7_1625-3dup (n.1625-7_1625-3dup) c.1607-7_1607-3dup (n.1607-7_1607-3dup) | gnomAD v4 |
| 11 | g.47342160_47342161delinsCA | CA1969335467 | MYBPC3 | c.1625-5_1625-4delinsTG (n.1625-5_1625-4delinsTG) c.1607-5_1607-4delinsTG (n.1607-5_1607-4delinsTG) | |
| 11 | g.47342161del | CA1139661926 | MYBPC3 | c.1625-5del (n.1625-5del) c.1607-5del (n.1607-5del) | ClinVar dbSNP |
| 11 | g.47342161A>G | CA2613402054 | MYBPC3 | c.1625-5T>C (n.1625-5T>C) c.1607-5T>C (n.1607-5T>C) | gnomAD v4 |
| 11 | g.47342162G>A | CA599374447 | MYBPC3 | c.1625-6C>T (n.1625-6C>T) c.1607-6C>T (n.1607-6C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342162G= | CA1969335471 | MYBPC3 | c.1625-6C= (n.1625-6C=) c.1607-6C= (n.1607-6C=) | |
| 11 | g.47342162G>T | CA2695213891 | MYBPC3 | c.1625-6C>A (n.1625-6C>A) c.1607-6C>A (n.1607-6C>A) | |
| 11 | g.47342163G>A | CA2613402063 | MYBPC3 | c.1625-7C>T (n.1625-7C>T) c.1607-7C>T (n.1607-7C>T) | gnomAD v4 |
| 11 | g.47342163G= | CA1969335475 | MYBPC3 | c.1625-7C= (n.1625-7C=) c.1607-7C= (n.1607-7C=) | |
| 11 | g.47342163G>T | CA078246 | MYBPC3 | c.1625-7C>A (n.1625-7C>A) c.1607-7C>A (n.1607-7C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342164G>C | CA078248 | MYBPC3 | c.1625-8C>G (n.1625-8C>G) c.1607-8C>G (n.1607-8C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342164G= | CA1969335481 | MYBPC3 | c.1625-8C= (n.1625-8C=) c.1607-8C= (n.1607-8C=) | |
| 11 | g.47342164G>T | CA599374448 | MYBPC3 | c.1625-8C>A (n.1625-8C>A) c.1607-8C>A (n.1607-8C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |