UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.47342611dup | CA2580084245 | MYBPC3 | c.1595dup (p.Gln533ProfsTer5) c.1577dup (p.Gln527ProfsTer5) | ClinVar |
| 11 | g.47342611del | CA010697 | MYBPC3 | c.1595del (p.Gly532AlafsTer23) c.1577del (p.Gly526AlafsTer23) | ClinVar dbSNP |
| 11 | g.47342607_47342632delinsCCCCCGCTAGTGCACAGTGCATAGTG | CA1969335833 | MYBPC3 | c.1570_1595delinsCACTATGCACTGTGCACTAGCGGGGG (p.His524=) c.1552_1577delinsCACTATGCACTGTGCACTAGCGGGGG (p.His518=) | |
| 11 | g.47342614_47342638del | CA658797633 | MYBPC3 | c.1570_1594del (p.His524AlafsTer23) c.1552_1576del (p.His518AlafsTer23) | ClinVar dbSNP |
| 11 | g.47342611C>A | CA221695735 | MYBPC3 | c.1591G>T (p.Gly531Trp) c.1573G>T (p.Gly525Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342611C= | CA1969335844 | MYBPC3 | c.1591G= (p.Gly531=) c.1573G= (p.Gly525=) | |
| 11 | g.47342611C>G | CA010681 | MYBPC3 | c.1591G>C (p.Gly531Arg) c.1573G>C (p.Gly525Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342611C>T | CA010674 | MYBPC3 | c.1591G>A (p.Gly531Arg) c.1573G>A (p.Gly525Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342612G>A | CA078186 | MYBPC3 | c.1590C>T (p.Ser530=) c.1572C>T (p.Ser524=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342612G>C | CA380325042 | MYBPC3 | c.1590C>G (p.Ser530Arg) c.1572C>G (p.Ser524Arg) | |
| 11 | g.47342612G= | CA1969335847 | MYBPC3 | c.1590C= (p.Ser530=) c.1572C= (p.Ser524=) | |
| 11 | g.47342612G>T | CA380325043 | MYBPC3 | c.1590C>A (p.Ser530Arg) c.1572C>A (p.Ser524Arg) | ClinVar |
| 11 | g.47342613C>A | CA380325044 | MYBPC3 | c.1589G>T (p.Ser530Ile) c.1571G>T (p.Ser524Ile) | |
| 11 | g.47342613C= | CA1969335849 | MYBPC3 | c.1589G= (p.Ser530=) c.1571G= (p.Ser524=) | |
| 11 | g.47342613C>G | CA380325045 | MYBPC3 | c.1589G>C (p.Ser530Thr) c.1571G>C (p.Ser524Thr) | |
| 11 | g.47342613C>T | CA078184 | MYBPC3 | c.1589G>A (p.Ser530Asn) c.1571G>A (p.Ser524Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342614T>A | CA380325048 | MYBPC3 | c.1588A>T (p.Ser530Cys) c.1570A>T (p.Ser524Cys) | |
| 11 | g.47342614T>C | CA380325046 | MYBPC3 | c.1588A>G (p.Ser530Gly) c.1570A>G (p.Ser524Gly) | ClinVar |
| 11 | g.47342614T>G | CA380325047 | MYBPC3 | c.1588A>C (p.Ser530Arg) c.1570A>C (p.Ser524Arg) | |
| 11 | g.47342620_47342633del | CA2580615689 | MYBPC3 | c.1575_1588del (p.Tyr525Ter) c.1557_1570del (p.Tyr519Ter) | ClinVar |
| 11 | g.47342615A= | CA1969335850 | MYBPC3 | c.1587T= (p.Thr529=) c.1569T= (p.Thr523=) | |
| 11 | g.47342615A>C | CA474219658 | MYBPC3 | c.1587T>G (p.Thr529=) c.1569T>G (p.Thr523=) | |
| 11 | g.47342615A>G | CA474219660 | MYBPC3 | c.1587T>C (p.Thr529=) c.1569T>C (p.Thr523=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342615A>T | CA474219661 | MYBPC3 | c.1587T>A (p.Thr529=) c.1569T>A (p.Thr523=) | dbSNP |
| 11 | g.47342616G>A | CA380325049 | MYBPC3 | c.1586C>T (p.Thr529Ile) c.1568C>T (p.Thr523Ile) | |
| 11 | g.47342616G>C | CA010669 | MYBPC3 | c.1586C>G (p.Thr529Ser) c.1568C>G (p.Thr523Ser) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342616G= | CA1969335851 | MYBPC3 | c.1586C= (p.Thr529=) c.1568C= (p.Thr523=) | |
| 11 | g.47342616G>T | CA380325050 | MYBPC3 | c.1586C>A (p.Thr529Asn) c.1568C>A (p.Thr523Asn) | ClinVar dbSNP |
| 11 | g.47342617T>A | CA380325051 | MYBPC3 | c.1585A>T (p.Thr529Ser) c.1567A>T (p.Thr523Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342617T>C | CA380325052 | MYBPC3 | c.1585A>G (p.Thr529Ala) c.1567A>G (p.Thr523Ala) | |
| 11 | g.47342617T>G | CA380325053 | MYBPC3 | c.1585A>C (p.Thr529Pro) c.1567A>C (p.Thr523Pro) | |
| 11 | g.47342617T= | CA1969335854 | MYBPC3 | c.1585A= (p.Thr529=) c.1567A= (p.Thr523=) | |
| 11 | g.47342618G>A | CA474219670 | MYBPC3 | c.1584C>T (p.Cys528=) c.1566C>T (p.Cys522=) | |
| 11 | g.47342618G>C | CA380325054 | MYBPC3 | c.1584C>G (p.Cys528Trp) c.1566C>G (p.Cys522Trp) | |
| 11 | g.47342618G>T | CA380325055 | MYBPC3 | c.1584C>A (p.Cys528Ter) c.1566C>A (p.Cys522Ter) | |
| 11 | g.47342619C>A | CA380325056 | MYBPC3 | c.1583G>T (p.Cys528Phe) c.1565G>T (p.Cys522Phe) | |
| 11 | g.47342619C>G | CA380325057 | MYBPC3 | c.1583G>C (p.Cys528Ser) c.1565G>C (p.Cys522Ser) | |
| 11 | g.47342619C>T | CA380325058 | MYBPC3 | c.1583G>A (p.Cys528Tyr) c.1565G>A (p.Cys522Tyr) | |
| 11 | g.47342620A= | CA1969335856 | MYBPC3 | c.1582T= (p.Cys528=) c.1564T= (p.Cys522=) | |
| 11 | g.47342620A>C | CA380325059 | MYBPC3 | c.1582T>G (p.Cys528Gly) c.1564T>G (p.Cys522Gly) | |
| 11 | g.47342620A>G | CA380325061 | MYBPC3 | c.1582T>C (p.Cys528Arg) c.1564T>C (p.Cys522Arg) | dbSNP |
| 11 | g.47342620A>T | CA380325060 | MYBPC3 | c.1582T>A (p.Cys528Ser) c.1564T>A (p.Cys522Ser) | |
| 11 | g.47342621C>A | CA474219682 | MYBPC3 | c.1581G>T (p.Leu527=) c.1563G>T (p.Leu521=) | dbSNP |
| 11 | g.47342621C= | CA1969335857 | MYBPC3 | c.1581G= (p.Leu527=) c.1563G= (p.Leu521=) | |
| 11 | g.47342621C>G | CA474219679 | MYBPC3 | c.1581G>C (p.Leu527=) c.1563G>C (p.Leu521=) | |
| 11 | g.47342621C>T | CA474219680 | MYBPC3 | c.1581G>A (p.Leu527=) c.1563G>A (p.Leu521=) | gnomAD v4 |
| 11 | g.47342622A= | CA1969335859 | MYBPC3 | c.1580T= (p.Leu527=) c.1562T= (p.Leu521=) | |
| 11 | g.47342622A>C | CA380325063 | MYBPC3 | c.1580T>G (p.Leu527Arg) c.1562T>G (p.Leu521Arg) | |
| 11 | g.47342622A>G | CA078181 | MYBPC3 | c.1580T>C (p.Leu527Pro) c.1562T>C (p.Leu521Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342622A>T | CA380325062 | MYBPC3 | c.1580T>A (p.Leu527Gln) c.1562T>A (p.Leu521Gln) | |
| 11 | g.47342622_47342625dup | CA296492 | MYBPC3 | c.1577_1580dup (p.Cys528ThrfsTer4) c.1559_1562dup (p.Cys522ThrfsTer4) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342627_47342633del | CA2573053512 | MYBPC3 | c.1574_1580del (p.Tyr525CysfsTer28) c.1556_1562del (p.Tyr519CysfsTer28) | ClinVar dbSNP |
| 11 | g.47342623G>A | CA474219690 | MYBPC3 | c.1579C>T (p.Leu527=) c.1561C>T (p.Leu521=) | gnomAD v4 |
| 11 | g.47342623G>C | CA380325064 | MYBPC3 | c.1579C>G (p.Leu527Val) c.1561C>G (p.Leu521Val) | dbSNP |
| 11 | g.47342623G= | CA1969335861 | MYBPC3 | c.1579C= (p.Leu527=) c.1561C= (p.Leu521=) | |
| 11 | g.47342623G>T | CA380325065 | MYBPC3 | c.1579C>A (p.Leu527Met) c.1561C>A (p.Leu521Met) | ClinVar |
| 11 | g.47342624T>A | CA078179 | MYBPC3 | c.1578A>T (p.Ala526=) c.1560A>T (p.Ala520=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342624T>C | CA078176 | MYBPC3 | c.1578A>G (p.Ala526=) c.1560A>G (p.Ala520=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342624T>G | CA474219697 | MYBPC3 | c.1578A>C (p.Ala526=) c.1560A>C (p.Ala520=) | |
| 11 | g.47342624T= | CA1969335862 | MYBPC3 | c.1578A= (p.Ala526=) c.1560A= (p.Ala520=) | |
| 11 | g.47342625G>A | CA380325066 | MYBPC3 | c.1577C>T (p.Ala526Val) c.1559C>T (p.Ala520Val) | |
| 11 | g.47342625G>C | CA380325067 | MYBPC3 | c.1577C>G (p.Ala526Gly) c.1559C>G (p.Ala520Gly) | |
| 11 | g.47342625G>T | CA380325068 | MYBPC3 | c.1577C>A (p.Ala526Glu) c.1559C>A (p.Ala520Glu) | |
| 11 | g.47342626C>A | CA380325069 | MYBPC3 | c.1576G>T (p.Ala526Ser) c.1558G>T (p.Ala520Ser) | |
| 11 | g.47342626C= | CA1969335865 | MYBPC3 | c.1576G= (p.Ala526=) c.1558G= (p.Ala520=) | |
| 11 | g.47342626C>G | CA380325070 | MYBPC3 | c.1576G>C (p.Ala526Pro) c.1558G>C (p.Ala520Pro) | |
| 11 | g.47342626C>T | CA380325071 | MYBPC3 | c.1576G>A (p.Ala526Thr) c.1558G>A (p.Ala520Thr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342627A= | CA1969335867 | MYBPC3 | c.1575T= (p.Tyr525=) c.1557T= (p.Tyr519=) | |
| 11 | g.47342627A>C | CA010653 | MYBPC3 | c.1575T>G (p.Tyr525Ter) c.1557T>G (p.Tyr519Ter) | ClinVar dbSNP |
| 11 | g.47342627A>G | CA474219706 | MYBPC3 | c.1575T>C (p.Tyr525=) c.1557T>C (p.Tyr519=) | gnomAD v4 |
| 11 | g.47342627A>T | CA079297 | MYBPC3 | c.1575T>A (p.Tyr525Ter) c.1557T>A (p.Tyr519Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342628T>A | CA380325072 | MYBPC3 | c.1574A>T (p.Tyr525Phe) c.1556A>T (p.Tyr519Phe) | |
| 11 | g.47342628T>C | CA380325073 | MYBPC3 | c.1574A>G (p.Tyr525Cys) c.1556A>G (p.Tyr519Cys) | ClinVar |
| 11 | g.47342628T>G | CA380325074 | MYBPC3 | c.1574A>C (p.Tyr525Ser) c.1556A>C (p.Tyr519Ser) | |
| 11 | g.47342629del | CA2580084247 | MYBPC3 | c.1573del (p.Tyr525MetfsTer30) c.1555del (p.Tyr519MetfsTer30) | ClinVar |
| 11 | g.47342629A= | CA1969335869 | MYBPC3 | c.1573T= (p.Tyr525=) c.1555T= (p.Tyr519=) | |
| 11 | g.47342629A>C | CA380325075 | MYBPC3 | c.1573T>G (p.Tyr525Asp) c.1555T>G (p.Tyr519Asp) | ClinVar dbSNP |
| 11 | g.47342629A>G | CA380325076 | MYBPC3 | c.1573T>C (p.Tyr525His) c.1555T>C (p.Tyr519His) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342629A>T | CA380325077 | MYBPC3 | c.1573T>A (p.Tyr525Asn) c.1555T>A (p.Tyr519Asn) | |
| 11 | g.47342630G>A | CA474219716 | MYBPC3 | c.1572C>T (p.His524=) c.1554C>T (p.His518=) | |
| 11 | g.47342630G>C | CA380325079 | MYBPC3 | c.1572C>G (p.His524Gln) c.1554C>G (p.His518Gln) | |
| 11 | g.47342630G>T | CA380325078 | MYBPC3 | c.1572C>A (p.His524Gln) c.1554C>A (p.His518Gln) | |
| 11 | g.47342631_47342632del | CA046263 | MYBPC3 | c.1571_1572del (p.His524LeufsTer6) c.1553_1554del (p.His518LeufsTer6) | |
| 11 | g.47342631T>A | CA380325080 | MYBPC3 | c.1571A>T (p.His524Leu) c.1553A>T (p.His518Leu) | |
| 11 | g.47342631T>C | CA380325081 | MYBPC3 | c.1571A>G (p.His524Arg) c.1553A>G (p.His518Arg) | |
| 11 | g.47342631T>G | CA380325082 | MYBPC3 | c.1571A>C (p.His524Pro) c.1553A>C (p.His518Pro) | |
| 11 | g.47342632G>A | CA380325083 | MYBPC3 | c.1570C>T (p.His524Tyr) c.1552C>T (p.His518Tyr) | |
| 11 | g.47342632G>C | CA380325084 | MYBPC3 | c.1570C>G (p.His524Asp) c.1552C>G (p.His518Asp) | |
| 11 | g.47342632G>T | CA380325085 | MYBPC3 | c.1570C>A (p.His524Asn) c.1552C>A (p.His518Asn) | |
| 11 | g.47342632_47342633delinsGC | CA1969335870 | MYBPC3 | c.1569_1570delinsGC (p.Gly523=) c.1551_1552delinsGC (p.Gly517=) | |
| 11 | g.47342633C>A | CA474219726 | MYBPC3 | c.1569G>T (p.Gly523=) c.1551G>T (p.Gly517=) | gnomAD v4 |
| 11 | g.47342633C= | CA1969335871 | MYBPC3 | c.1569G= (p.Gly523=) c.1551G= (p.Gly517=) | |
| 11 | g.47342633C>G | CA474219728 | MYBPC3 | c.1569G>C (p.Gly523=) c.1551G>C (p.Gly517=) | |
| 11 | g.47342633C>T | CA474219729 | MYBPC3 | c.1569G>A (p.Gly523=) c.1551G>A (p.Gly517=) | dbSNP |
| 11 | g.47342636dup | CA2695213897 | MYBPC3 | c.1569dup (p.His524AlafsTer7) c.1551dup (p.His518AlafsTer7) | |
| 11 | g.47342636del | CA916081647 | MYBPC3 | c.1569del (p.His524ThrfsTer?) c.1551del (p.His518ThrfsTer?) | ClinVar dbSNP |
| 11 | g.47342634C>A | CA380325086 | MYBPC3 | c.1568G>T (p.Gly523Val) c.1550G>T (p.Gly517Val) | ClinVar |
| 11 | g.47342634C>G | CA380325088 | MYBPC3 | c.1568G>C (p.Gly523Ala) c.1550G>C (p.Gly517Ala) | |
| 11 | g.47342634C>T | CA380325087 | MYBPC3 | c.1568G>A (p.Gly523Glu) c.1550G>A (p.Gly517Glu) | gnomAD v4 |
| 11 | g.47342635C>A | CA380325089 | MYBPC3 | c.1567G>T (p.Gly523Trp) c.1549G>T (p.Gly517Trp) | dbSNP |
| 11 | g.47342635C= | CA1969335873 | MYBPC3 | c.1567G= (p.Gly523=) c.1549G= (p.Gly517=) | |
| 11 | g.47342635C>G | CA380325090 | MYBPC3 | c.1567G>C (p.Gly523Arg) c.1549G>C (p.Gly517Arg) | |
| 11 | g.47342635C>T | CA380325091 | MYBPC3 | c.1567G>A (p.Gly523Arg) c.1549G>A (p.Gly517Arg) | |
| 11 | g.47342636C>A | CA474219734 | MYBPC3 | c.1566G>T (p.Ala522=) c.1548G>T (p.Ala516=) | |
| 11 | g.47342636C= | CA1969335875 | MYBPC3 | c.1566G= (p.Ala522=) c.1548G= (p.Ala516=) | |
| 11 | g.47342636C>G | CA474219735 | MYBPC3 | c.1566G>C (p.Ala522=) c.1548G>C (p.Ala516=) | |
| 11 | g.47342636C>T | CA010646 | MYBPC3 | c.1566G>A (p.Ala522=) c.1548G>A (p.Ala516=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342637G>A | CA078174 | MYBPC3 | c.1565C>T (p.Ala522Val) c.1547C>T (p.Ala516Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47342637G>C | CA380325092 | MYBPC3 | c.1565C>G (p.Ala522Gly) c.1547C>G (p.Ala516Gly) | COSMIC COSMIC |
| 11 | g.47342637G= | CA1969335876 | MYBPC3 | c.1565C= (p.Ala522=) c.1547C= (p.Ala516=) | |
| 11 | g.47342637G>T | CA380325093 | MYBPC3 | c.1565C>A (p.Ala522Glu) c.1547C>A (p.Ala516Glu) | |
| 11 | g.47342638C>A | CA380325094 | MYBPC3 | c.1564G>T (p.Ala522Ser) c.1546G>T (p.Ala516Ser) | |
| 11 | g.47342638C= | CA1969335879 | MYBPC3 | c.1564G= (p.Ala522=) c.1546G= (p.Ala516=) | |
| 11 | g.47342638C>G | CA380325095 | MYBPC3 | c.1564G>C (p.Ala522Pro) c.1546G>C (p.Ala516Pro) | |
| 11 | g.47342638C>T | CA010634 | MYBPC3 | c.1564G>A (p.Ala522Thr) c.1546G>A (p.Ala516Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342639G>A | CA078169 | MYBPC3 | c.1563C>T (p.Asp521=) c.1545C>T (p.Asp515=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.47342639G>C | CA380325096 | MYBPC3 | c.1563C>G (p.Asp521Glu) c.1545C>G (p.Asp515Glu) | |
| 11 | g.47342639G= | CA1969335881 | MYBPC3 | c.1563C= (p.Asp521=) c.1545C= (p.Asp515=) | |
| 11 | g.47342639G>T | CA380325097 | MYBPC3 | c.1563C>A (p.Asp521Glu) c.1545C>A (p.Asp515Glu) | |
| 11 | g.47342640T>A | CA380325100 | MYBPC3 | c.1562A>T (p.Asp521Val) c.1544A>T (p.Asp515Val) | |
| 11 | g.47342640T>C | CA380325098 | MYBPC3 | c.1562A>G (p.Asp521Gly) c.1544A>G (p.Asp515Gly) | gnomAD v4 |
| 11 | g.47342640T>G | CA380325099 | MYBPC3 | c.1562A>C (p.Asp521Ala) c.1544A>C (p.Asp515Ala) | |
| 11 | g.47342641C>A | CA380325101 | MYBPC3 | c.1561G>T (p.Asp521Tyr) c.1543G>T (p.Asp515Tyr) | |
| 11 | g.47342641C>G | CA380325102 | MYBPC3 | c.1561G>C (p.Asp521His) c.1543G>C (p.Asp515His) | |
| 11 | g.47342641C>T | CA045762 | MYBPC3 | c.1561G>A (p.Asp521Asn) c.1543G>A (p.Asp515Asn) | |
| 11 | g.47342642C>A | CA380325103 | MYBPC3 | c.1560G>T (p.Glu520Asp) c.1542G>T (p.Glu514Asp) | |
| 11 | g.47342642C>G | CA380325104 | MYBPC3 | c.1560G>C (p.Glu520Asp) c.1542G>C (p.Glu514Asp) | |
| 11 | g.47342642C>T | CA474219755 | MYBPC3 | c.1560G>A (p.Glu520=) c.1542G>A (p.Glu514=) | |
| 11 | g.47342643T>A | CA380325105 | MYBPC3 | c.1559A>T (p.Glu520Val) c.1541A>T (p.Glu514Val) | |
| 11 | g.47342643T>C | CA380325106 | MYBPC3 | c.1559A>G (p.Glu520Gly) c.1541A>G (p.Glu514Gly) | |
| 11 | g.47342643T>G | CA380325107 | MYBPC3 | c.1559A>C (p.Glu520Ala) c.1541A>C (p.Glu514Ala) | |
| 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=) | ClinVar 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=) | 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 |
| 11 | g.47342665T>G | CA380325153 | MYBPC3 | c.1537A>C (p.Ile513Leu) c.1519A>C (p.Ile507Leu) | |
| 11 | g.47342666C>A | CA474219842 | MYBPC3 | c.1536G>T (p.Leu512=) c.1518G>T (p.Leu506=) | |
| 11 | g.47342666C= | CA1969335910 | MYBPC3 | c.1536G= (p.Leu512=) c.1518G= (p.Leu506=) | |
| 11 | g.47342666C>G | CA474219844 | MYBPC3 | c.1536G>C (p.Leu512=) c.1518G>C (p.Leu506=) | |
| 11 | g.47342666C>T | CA078155 | MYBPC3 | c.1536G>A (p.Leu512=) c.1518G>A (p.Leu506=) | dbSNP ExAC gnomAD v2 |
| 11 | g.47342667A= | CA1969335913 | MYBPC3 | c.1535T= (p.Leu512=) c.1517T= (p.Leu506=) | |
| 11 | g.47342667A>C | CA380325154 | MYBPC3 | c.1535T>G (p.Leu512Arg) c.1517T>G (p.Leu506Arg) | |
| 11 | g.47342667A>G | CA010583 | MYBPC3 | c.1535T>C (p.Leu512Pro) c.1517T>C (p.Leu506Pro) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342667A>T | CA010574 | MYBPC3 | c.1535T>A (p.Leu512Gln) c.1517T>A (p.Leu506Gln) | ClinVar dbSNP |
| 11 | g.47342668G>A | CA474219852 | MYBPC3 | c.1534C>T (p.Leu512=) c.1516C>T (p.Leu506=) | ClinVar dbSNP |
| 11 | g.47342668G>C | CA380325155 | MYBPC3 | c.1534C>G (p.Leu512Val) c.1516C>G (p.Leu506Val) | |
| 11 | g.47342668G= | CA1969335915 | MYBPC3 | c.1534C= (p.Leu512=) c.1516C= (p.Leu506=) | |
| 11 | g.47342668G>T | CA380325156 | MYBPC3 | c.1534C>A (p.Leu512Met) c.1516C>A (p.Leu506Met) | |
| 11 | g.47342669G>A | CA474219855 | MYBPC3 | c.1533C>T (p.His511=) c.1515C>T (p.His505=) | dbSNP |
| 11 | g.47342669G>C | CA380325157 | MYBPC3 | c.1533C>G (p.His511Gln) c.1515C>G (p.His505Gln) | ClinVar |
| 11 | g.47342669G= | CA1969335916 | MYBPC3 | c.1533C= (p.His511=) c.1515C= (p.His505=) | |
| 11 | g.47342669G>T | CA380325158 | MYBPC3 | c.1533C>A (p.His511Gln) c.1515C>A (p.His505Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342670T>A | CA380325159 | MYBPC3 | c.1532A>T (p.His511Leu) c.1514A>T (p.His505Leu) | |
| 11 | g.47342670T>C | CA380325161 | MYBPC3 | c.1532A>G (p.His511Arg) c.1514A>G (p.His505Arg) | ClinVar dbSNP |
| 11 | g.47342670T>G | CA380325160 | MYBPC3 | c.1532A>C (p.His511Pro) c.1514A>C (p.His505Pro) | |
| 11 | g.47342670T= | CA1969335918 | MYBPC3 | c.1532A= (p.His511=) c.1514A= (p.His505=) | |
| 11 | g.47342671G>A | CA380325162 | MYBPC3 | c.1531C>T (p.His511Tyr) c.1513C>T (p.His505Tyr) | |
| 11 | g.47342671G>C | CA380325164 | MYBPC3 | c.1531C>G (p.His511Asp) c.1513C>G (p.His505Asp) | |
| 11 | g.47342671G= | CA1969335920 | MYBPC3 | c.1531C= (p.His511=) c.1513C= (p.His505=) | |
| 11 | g.47342671G>T | CA380325163 | MYBPC3 | c.1531C>A (p.His511Asn) c.1513C>A (p.His505Asn) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342672del | CA2580084250 | MYBPC3 | c.1531del (p.His511ThrfsTer2) c.1513del (p.His505ThrfsTer2) | ClinVar |
| 11 | g.47342672G>A | CA474219862 | MYBPC3 | c.1530C>T (p.His510=) c.1512C>T (p.His504=) | ClinVar dbSNP |
| 11 | g.47342672G>C | CA380325165 | MYBPC3 | c.1530C>G (p.His510Gln) c.1512C>G (p.His504Gln) | |
| 11 | g.47342672G= | CA1969335922 | MYBPC3 | c.1530C= (p.His510=) c.1512C= (p.His504=) | |
| 11 | g.47342672G>T | CA380325166 | MYBPC3 | c.1530C>A (p.His510Gln) c.1512C>A (p.His504Gln) | |
| 11 | g.47342674_47342675dup | CA2574816040 | MYBPC3 | c.1529_1530dup (p.His511ThrfsTer3) c.1511_1512dup (p.His505ThrfsTer3) | |
| 11 | g.47342673T>A | CA380325167 | MYBPC3 | c.1529A>T (p.His510Leu) c.1511A>T (p.His504Leu) | |
| 11 | g.47342673T>C | CA380325169 | MYBPC3 | c.1529A>G (p.His510Arg) c.1511A>G (p.His504Arg) | |
| 11 | g.47342673T>G | CA380325168 | MYBPC3 | c.1529A>C (p.His510Pro) c.1511A>C (p.His504Pro) | |
| 11 | g.47342674G>A | CA380325170 | MYBPC3 | c.1528C>T (p.His510Tyr) c.1510C>T (p.His504Tyr) | gnomAD v4 |
| 11 | g.47342674G>C | CA380325172 | MYBPC3 | c.1528C>G (p.His510Asp) c.1510C>G (p.His504Asp) | |
| 11 | g.47342674G>T | CA380325171 | MYBPC3 | c.1528C>A (p.His510Asn) c.1510C>A (p.His504Asn) | |
| 11 | g.47342675T>A | CA380325173 | MYBPC3 | c.1527A>T (p.Arg509Ser) c.1509A>T (p.Arg503Ser) | gnomAD v4 |
| 11 | g.47342675T>C | CA474219870 | MYBPC3 | c.1527A>G (p.Arg509=) c.1509A>G (p.Arg503=) | |
| 11 | g.47342675T>G | CA380325174 | MYBPC3 | c.1527A>C (p.Arg509Ser) c.1509A>C (p.Arg503Ser) | |
| 11 | g.47342678_47342679del | CA2580615691 | MYBPC3 | c.1526_1527del (p.Arg509ThrfsTer21) c.1508_1509del (p.Arg503ThrfsTer21) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342676C>A | CA380325175 | MYBPC3 | c.1526G>T (p.Arg509Ile) c.1508G>T (p.Arg503Ile) | |
| 11 | g.47342676C>G | CA380325176 | MYBPC3 | c.1526G>C (p.Arg509Thr) c.1508G>C (p.Arg503Thr) | |
| 11 | g.47342676C>T | CA380325177 | MYBPC3 | c.1526G>A (p.Arg509Lys) c.1508G>A (p.Arg503Lys) | |
| 11 | g.47342677T>A | CA380325178 | MYBPC3 | c.1525A>T (p.Arg509Ter) c.1507A>T (p.Arg503Ter) | |
| 11 | g.47342677T>C | CA380325179 | MYBPC3 | c.1525A>G (p.Arg509Gly) c.1507A>G (p.Arg503Gly) | |
| 11 | g.47342677T>G | CA474219874 | MYBPC3 | c.1525A>C (p.Arg509=) c.1507A>C (p.Arg503=) | |
| 11 | g.47342677_47342679delinsA | CA2695213898 | MYBPC3 | c.1523_1525delinsT (p.Gln508LeufsTer22) c.1505_1507delinsT (p.Gln502LeufsTer22) | |
| 11 | g.47342678C>A | CA380325180 | MYBPC3 | c.1524G>T (p.Gln508His) c.1506G>T (p.Gln502His) | |
| 11 | g.47342678C>G | CA380325181 | MYBPC3 | c.1524G>C (p.Gln508His) c.1506G>C (p.Gln502His) | ClinVar gnomAD v4 |
| 11 | g.47342678C>T | CA474219877 | MYBPC3 | c.1524G>A (p.Gln508=) c.1506G>A (p.Gln502=) | |
| 11 | g.47342679T>A | CA380325182 | MYBPC3 | c.1523A>T (p.Gln508Leu) c.1505A>T (p.Gln502Leu) | |
| 11 | g.47342679T>C | CA380325183 | MYBPC3 | c.1523A>G (p.Gln508Arg) c.1505A>G (p.Gln502Arg) | dbSNP |
| 11 | g.47342679T>G | CA380325184 | MYBPC3 | c.1523A>C (p.Gln508Pro) c.1505A>C (p.Gln502Pro) | |
| 11 | g.47342680G>A | CA010566 | MYBPC3 | c.1522C>T (p.Gln508Ter) c.1504C>T (p.Gln502Ter) | ClinVar dbSNP |
| 11 | g.47342680G>C | CA380325186 | MYBPC3 | c.1522C>G (p.Gln508Glu) c.1504C>G (p.Gln502Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342680G= | CA1969335923 | MYBPC3 | c.1522C= (p.Gln508=) c.1504C= (p.Gln502=) | |
| 11 | g.47342680G>T | CA380325185 | MYBPC3 | c.1522C>A (p.Gln508Lys) c.1504C>A (p.Gln502Lys) | |
| 11 | g.47342680_47342681delinsGC | CA1969335924 | MYBPC3 | c.1521_1522delinsGC (p.Gly507=) c.1503_1504delinsGC (p.Gly501=) | |
| 11 | g.47342681C>A | CA474219883 | MYBPC3 | c.1521G>T (p.Gly507=) c.1503G>T (p.Gly501=) | |
| 11 | g.47342681C= | CA1969335927 | MYBPC3 | c.1521G= (p.Gly507=) c.1503G= (p.Gly501=) | |
| 11 | g.47342681C>G | CA474219885 | MYBPC3 | c.1521G>C (p.Gly507=) c.1503G>C (p.Gly501=) | |
| 11 | g.47342681C>T | CA474219887 | MYBPC3 | c.1521G>A (p.Gly507=) c.1503G>A (p.Gly501=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342683del | CA658821845 | MYBPC3 | c.1521del (p.Gln508ArgfsTer5) c.1503del (p.Gln502ArgfsTer5) | ClinVar dbSNP |
| 11 | g.47342682C>A | CA380325187 | MYBPC3 | c.1520G>T (p.Gly507Val) c.1502G>T (p.Gly501Val) | |
| 11 | g.47342682C>G | CA380325188 | MYBPC3 | c.1520G>C (p.Gly507Ala) c.1502G>C (p.Gly501Ala) | |
| 11 | g.47342682C>T | CA380325189 | MYBPC3 | c.1520G>A (p.Gly507Glu) c.1502G>A (p.Gly501Glu) | |
| 11 | g.47342682_47342684delinsCCG | CA1969335929 | MYBPC3 | c.1518_1520delinsCGG (p.Asp506=) c.1500_1502delinsCGG (p.Asp500=) | |
| 11 | g.47342683C>A | CA380325190 | MYBPC3 | c.1519G>T (p.Gly507Trp) c.1501G>T (p.Gly501Trp) | dbSNP |
| 11 | g.47342683C= | CA1969335931 | MYBPC3 | c.1519G= (p.Gly507=) c.1501G= (p.Gly501=) | |
| 11 | g.47342683C>G | CA380325191 | MYBPC3 | c.1519G>C (p.Gly507Arg) c.1501G>C (p.Gly501Arg) | ClinVar gnomAD v4 |
| 11 | g.47342683C>T | CA010550 | MYBPC3 | c.1519G>A (p.Gly507Arg) c.1501G>A (p.Gly501Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.47342683_47342684del | CA1139661930 | MYBPC3 | c.1518_1519del (p.Asp506GlufsTer24) c.1500_1501del (p.Asp500GlufsTer24) | ClinVar dbSNP |
| 11 | g.47342684G>A | CA010540 | MYBPC3 | c.1518C>T (p.Asp506=) c.1500C>T (p.Asp500=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47342684G>C | CA380325192 | MYBPC3 | c.1518C>G (p.Asp506Glu) c.1500C>G (p.Asp500Glu) | |
| 11 | g.47342684G= | CA1969335935 | MYBPC3 | c.1518C= (p.Asp506=) c.1500C= (p.Asp500=) | |
| 11 | g.47342684G>T | CA380325193 | MYBPC3 | c.1518C>A (p.Asp506Glu) c.1500C>A (p.Asp500Glu) | |
| 11 | g.47342685T>A | CA380325196 | MYBPC3 | c.1517A>T (p.Asp506Val) c.1499A>T (p.Asp500Val) | |
| 11 | g.47342685T>C | CA380325195 | MYBPC3 | c.1517A>G (p.Asp506Gly) c.1499A>G (p.Asp500Gly) | |
| 11 | g.47342685T>G | CA380325194 | MYBPC3 | c.1517A>C (p.Asp506Ala) c.1499A>C (p.Asp500Ala) | |
| 11 | g.47342686C>A | CA380325197 | MYBPC3 | c.1516G>T (p.Asp506Tyr) c.1498G>T (p.Asp500Tyr) | dbSNP |
| 11 | g.47342686C= | CA1969335937 | MYBPC3 | c.1516G= (p.Asp506=) c.1498G= (p.Asp500=) | |
| 11 | g.47342686C>G | CA380325198 | MYBPC3 | c.1516G>C (p.Asp506His) c.1498G>C (p.Asp500His) | |
| 11 | g.47342686C>T | CA045589 | MYBPC3 | c.1516G>A (p.Asp506Asn) c.1498G>A (p.Asp500Asn) | |
| 11 | g.47342687del | CA2499220972 | MYBPC3 | c.1516del (p.Asp506ThrfsTer7) c.1498del (p.Asp500ThrfsTer7) | ClinVar dbSNP |
| 11 | g.47342686_47342689delinsCCTT | CA1969335936 | MYBPC3 | c.1513_1516delinsAAGG (p.Lys505=) c.1495_1498delinsAAGG (p.Lys499=) | |
| 11 | g.47342687C>A | CA380325199 | MYBPC3 | c.1515G>T (p.Lys505Asn) c.1497G>T (p.Lys499Asn) | |
| 11 | g.47342687C= | CA1969335940 | MYBPC3 | c.1515G= (p.Lys505=) c.1497G= (p.Lys499=) | |
| 11 | g.47342687C>G | CA380325200 | MYBPC3 | c.1515G>C (p.Lys505Asn) c.1497G>C (p.Lys499Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342687C>T | CA474219900 | MYBPC3 | c.1515G>A (p.Lys505=) c.1497G>A (p.Lys499=) | |
| 11 | g.47342690_47342692del | CA010525 | MYBPC3 | c.1513_1515del (p.Lys505del) c.1495_1497del (p.Lys499del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342688T>A | CA380325201 | MYBPC3 | c.1514A>T (p.Lys505Met) c.1496A>T (p.Lys499Met) | gnomAD v4 |
| 11 | g.47342688T>C | CA380325202 | MYBPC3 | c.1514A>G (p.Lys505Arg) c.1496A>G (p.Lys499Arg) | |
| 11 | g.47342688T>G | CA380325203 | MYBPC3 | c.1514A>C (p.Lys505Thr) c.1496A>C (p.Lys499Thr) | |
| 11 | g.47342689T>A | CA010531 | MYBPC3 | c.1513A>T (p.Lys505Ter) c.1495A>T (p.Lys499Ter) | dbSNP |
| 11 | g.47342689T>C | CA380325204 | MYBPC3 | c.1513A>G (p.Lys505Glu) c.1495A>G (p.Lys499Glu) | |
| 11 | g.47342689T>G | CA380325205 | MYBPC3 | c.1513A>C (p.Lys505Gln) c.1495A>C (p.Lys499Gln) | |
| 11 | g.47342689T= | CA1969335943 | MYBPC3 | c.1513A= (p.Lys505=) c.1495A= (p.Lys499=) | |
| 11 | g.47342690C>A | CA380325207 | MYBPC3 | c.1512G>T (p.Lys504Asn) c.1494G>T (p.Lys498Asn) | |
| 11 | g.47342690C>G | CA380325206 | MYBPC3 | c.1512G>C (p.Lys504Asn) c.1494G>C (p.Lys498Asn) | |
| 11 | g.47342690C>T | CA474219908 | MYBPC3 | c.1512G>A (p.Lys504=) c.1494G>A (p.Lys498=) | gnomAD v4 |
| 11 | g.47342691T>A | CA380325208 | MYBPC3 | c.1511A>T (p.Lys504Met) c.1493A>T (p.Lys498Met) | |
| 11 | g.47342691T>C | CA380325209 | MYBPC3 | c.1511A>G (p.Lys504Arg) c.1493A>G (p.Lys498Arg) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342691T>G | CA380325210 | MYBPC3 | c.1511A>C (p.Lys504Thr) c.1493A>C (p.Lys498Thr) | |
| 11 | g.47342691T= | CA1969335944 | MYBPC3 | c.1511A= (p.Lys504=) c.1493A= (p.Lys498=) | |
| 11 | g.47342692T>A | CA380325211 | MYBPC3 | c.1510A>T (p.Lys504Ter) c.1492A>T (p.Lys498Ter) | |
| 11 | g.47342692T>C | CA380325212 | MYBPC3 | c.1510A>G (p.Lys504Glu) c.1492A>G (p.Lys498Glu) | |
| 11 | g.47342692T>G | CA380325213 | MYBPC3 | c.1510A>C (p.Lys504Gln) c.1492A>C (p.Lys498Gln) | |
| 11 | g.47342692_47342697delinsTGAACC | CA1969335945 | MYBPC3 | c.1505_1510delinsGGTTCA (p.Arg502=) c.1487_1492delinsGGTTCA (p.Arg496=) | |
| 11 | g.47342693G>A | CA474219915 | MYBPC3 | c.1509C>T (p.Phe503=) c.1491C>T (p.Phe497=) | |
| 11 | g.47342693G>C | CA501101 | MYBPC3 | c.1509C>G (p.Phe503Leu) c.1491C>G (p.Phe497Leu) | ClinVar dbSNP |
| 11 | g.47342693G>T | CA380325214 | MYBPC3 | c.1509C>A (p.Phe503Leu) c.1491C>A (p.Phe497Leu) | |
| 11 | g.47342694_47342698del | CA010502 | MYBPC3 | c.1505_1509del (p.Arg502GlnfsTer27) c.1487_1491del (p.Arg496GlnfsTer27) | ClinVar dbSNP |
| 11 | g.47342694A>C | CA380325215 | MYBPC3 | c.1508T>G (p.Phe503Cys) c.1490T>G (p.Phe497Cys) | |
| 11 | g.47342694A>G | CA380325216 | MYBPC3 | c.1508T>C (p.Phe503Ser) c.1490T>C (p.Phe497Ser) | |
| 11 | g.47342694A>T | CA380325217 | MYBPC3 | c.1508T>A (p.Phe503Tyr) c.1490T>A (p.Phe497Tyr) | |
| 11 | g.47342695A>C | CA380325219 | MYBPC3 | c.1507T>G (p.Phe503Val) c.1489T>G (p.Phe497Val) | |
| 11 | g.47342695A>G | CA380325220 | MYBPC3 | c.1507T>C (p.Phe503Leu) c.1489T>C (p.Phe497Leu) | |
| 11 | g.47342695A>T | CA380325218 | MYBPC3 | c.1507T>A (p.Phe503Ile) c.1489T>A (p.Phe497Ile) | ClinVar dbSNP |
| 11 | g.47342696C>A | CA474219924 | MYBPC3 | c.1506G>T (p.Arg502=) c.1488G>T (p.Arg496=) | ClinVar dbSNP |
| 11 | g.47342696C= | CA1969335948 | MYBPC3 | c.1506G= (p.Arg502=) c.1488G= (p.Arg496=) | |
| 11 | g.47342696C>G | CA474219927 | MYBPC3 | c.1506G>C (p.Arg502=) c.1488G>C (p.Arg496=) | |
| 11 | g.47342696C>T | CA474219925 | MYBPC3 | c.1506G>A (p.Arg502=) c.1488G>A (p.Arg496=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342697dup | CA2573053513 | MYBPC3 | c.1506dup (p.Phe503ValfsTer28) c.1488dup (p.Phe497ValfsTer28) | dbSNP |
| 11 | g.47342697C>A | CA010518 | MYBPC3 | c.1505G>T (p.Arg502Leu) c.1487G>T (p.Arg496Leu) | ClinVar dbSNP |
| 11 | g.47342697C= | CA1969335951 | MYBPC3 | c.1505G= (p.Arg502=) c.1487G= (p.Arg496=) | |
| 11 | g.47342697C>G | CA380325221 | MYBPC3 | c.1505G>C (p.Arg502Pro) c.1487G>C (p.Arg496Pro) | |
| 11 | g.47342697C>T | CA010508 | MYBPC3 | c.1505G>A (p.Arg502Gln) c.1487G>A (p.Arg496Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342697_47342698delinsCG | CA1969335953 | MYBPC3 | c.1504_1505delinsCG (p.Arg502=) c.1486_1487delinsCG (p.Arg496=) | |
| 11 | g.47342698G>A | CA010493 | MYBPC3 | c.1504C>T (p.Arg502Trp) c.1486C>T (p.Arg496Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342698G>C | CA380325222 | MYBPC3 | c.1504C>G (p.Arg502Gly) c.1486C>G (p.Arg496Gly) | ClinVar dbSNP |
| 11 | g.47342698G= | CA1969335957 | MYBPC3 | c.1504C= (p.Arg502=) c.1486C= (p.Arg496=) | |
| 11 | g.47342698G>T | CA474219932 | MYBPC3 | c.1504C>A (p.Arg502=) c.1486C>A (p.Arg496=) | |
| 11 | g.47342699del | CA658797634 | MYBPC3 | c.1504del (p.Arg502GlyfsTer11) c.1486del (p.Arg496GlyfsTer11) | ClinVar dbSNP |
| 11 | g.47342699G>A | CA474219934 | MYBPC3 | c.1503C>T (p.Tyr501=) c.1485C>T (p.Tyr495=) | |
| 11 | g.47342699G>C | CA078146 | MYBPC3 | c.1503C>G (p.Tyr501Ter) c.1485C>G (p.Tyr495Ter) | dbSNP ExAC |
| 11 | g.47342699G= | CA1969335961 | MYBPC3 | c.1503C= (p.Tyr501=) c.1485C= (p.Tyr495=) | |
| 11 | g.47342699G>T | CA380325223 | MYBPC3 | c.1503C>A (p.Tyr501Ter) c.1485C>A (p.Tyr495Ter) | |
| 11 | g.47342700T>A | CA380325226 | MYBPC3 | c.1502A>T (p.Tyr501Phe) c.1484A>T (p.Tyr495Phe) | |
| 11 | g.47342700T>C | CA380325224 | MYBPC3 | c.1502A>G (p.Tyr501Cys) c.1484A>G (p.Tyr495Cys) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342700T>G | CA380325225 | MYBPC3 | c.1502A>C (p.Tyr501Ser) c.1484A>C (p.Tyr495Ser) | ClinVar dbSNP |
| 11 | g.47342700T= | CA1969335963 | MYBPC3 | c.1502A= (p.Tyr501=) c.1484A= (p.Tyr495=) | |
| 11 | g.47342701A>C | CA380325227 | MYBPC3 | c.1501T>G (p.Tyr501Asp) c.1483T>G (p.Tyr495Asp) | |
| 11 | g.47342701A>G | CA380325228 | MYBPC3 | c.1501T>C (p.Tyr501His) c.1483T>C (p.Tyr495His) | |
| 11 | g.47342701A>T | CA380325229 | MYBPC3 | c.1501T>A (p.Tyr501Asn) c.1483T>A (p.Tyr495Asn) | |
| 11 | g.47342702T>A | CA380325230 | MYBPC3 | c.1500A>T (p.Lys500Asn) c.1482A>T (p.Lys494Asn) | |
| 11 | g.47342702T>C | CA474219942 | MYBPC3 | c.1500A>G (p.Lys500=) c.1482A>G (p.Lys494=) | |
| 11 | g.47342702T>G | CA380325231 | MYBPC3 | c.1500A>C (p.Lys500Asn) c.1482A>C (p.Lys494Asn) | |
| 11 | g.47342703T>A | CA380325232 | MYBPC3 | c.1499A>T (p.Lys500Ile) c.1481A>T (p.Lys494Ile) | |
| 11 | g.47342703T>C | CA380325233 | MYBPC3 | c.1499A>G (p.Lys500Arg) c.1481A>G (p.Lys494Arg) | |
| 11 | g.47342703T>G | CA078145 | MYBPC3 | c.1499A>C (p.Lys500Thr) c.1481A>C (p.Lys494Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342703T= | CA1969335966 | MYBPC3 | c.1499A= (p.Lys500=) c.1481A= (p.Lys494=) | |
| 11 | g.47342704T>A | CA380325234 | MYBPC3 | c.1498A>T (p.Lys500Ter) c.1480A>T (p.Lys494Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342704T>C | CA380325235 | MYBPC3 | c.1498A>G (p.Lys500Glu) c.1480A>G (p.Lys494Glu) | |
| 11 | g.47342704T>G | CA380325236 | MYBPC3 | c.1498A>C (p.Lys500Gln) c.1480A>C (p.Lys494Gln) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342704T= | CA1969335967 | MYBPC3 | c.1498A= (p.Lys500=) c.1480A= (p.Lys494=) | |
| 11 | g.47342705G>A | CA474219952 | MYBPC3 | c.1497C>T (p.Phe499=) c.1479C>T (p.Phe493=) | |
| 11 | g.47342705G>C | CA380325237 | MYBPC3 | c.1497C>G (p.Phe499Leu) c.1479C>G (p.Phe493Leu) | |
| 11 | g.47342705G>T | CA380325238 | MYBPC3 | c.1497C>A (p.Phe499Leu) c.1479C>A (p.Phe493Leu) | |
| 11 | g.47342706A>C | CA380325239 | MYBPC3 | c.1496T>G (p.Phe499Cys) c.1478T>G (p.Phe493Cys) | |
| 11 | g.47342706A>G | CA380325240 | MYBPC3 | c.1496T>C (p.Phe499Ser) c.1478T>C (p.Phe493Ser) | |
| 11 | g.47342706A>T | CA380325241 | MYBPC3 | c.1496T>A (p.Phe499Tyr) c.1478T>A (p.Phe493Tyr) | |
| 11 | g.47342707A= | CA1969335969 | MYBPC3 | c.1495T= (p.Phe499=) c.1477T= (p.Phe493=) | |
| 11 | g.47342707A>C | CA380325242 | MYBPC3 | c.1495T>G (p.Phe499Val) c.1477T>G (p.Phe493Val) | |
| 11 | g.47342707A>G | CA380325243 | MYBPC3 | c.1495T>C (p.Phe499Leu) c.1477T>C (p.Phe493Leu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342707A>T | CA380325244 | MYBPC3 | c.1495T>A (p.Phe499Ile) c.1477T>A (p.Phe493Ile) | |
| 11 | g.47342708G>A | CA474219959 | MYBPC3 | c.1494C>T (p.Thr498=) c.1476C>T (p.Thr492=) | |
| 11 | g.47342708G>C | CA010485 | MYBPC3 | c.1494C>G (p.Thr498=) c.1476C>G (p.Thr492=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342708G= | CA1969335971 | MYBPC3 | c.1494C= (p.Thr498=) c.1476C= (p.Thr492=) | |
| 11 | g.47342708G>T | CA474219962 | MYBPC3 | c.1494C>A (p.Thr498=) c.1476C>A (p.Thr492=) | |
| 11 | g.47342709G>A | CA380325246 | MYBPC3 | c.1493C>T (p.Thr498Ile) c.1475C>T (p.Thr492Ile) | |
| 11 | g.47342709G>C | CA380325245 | MYBPC3 | c.1493C>G (p.Thr498Ser) c.1475C>G (p.Thr492Ser) | |
| 11 | g.47342709G= | CA1969335973 | MYBPC3 | c.1493C= (p.Thr498=) c.1475C= (p.Thr492=) | |
| 11 | g.47342709G>T | CA078141 | MYBPC3 | c.1493C>A (p.Thr498Asn) c.1475C>A (p.Thr492Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342710T>A | CA380325247 | MYBPC3 | c.1492A>T (p.Thr498Ser) c.1474A>T (p.Thr492Ser) | |
| 11 | g.47342710T>C | CA380325248 | MYBPC3 | c.1492A>G (p.Thr498Ala) c.1474A>G (p.Thr492Ala) | |
| 11 | g.47342710T>G | CA380325249 | MYBPC3 | c.1492A>C (p.Thr498Pro) c.1474A>C (p.Thr492Pro) | |
| 11 | g.47342710_47342713delinsTCTC | CA1969335975 | MYBPC3 | c.1489_1492delinsGAGA (p.Glu497=) c.1471_1474delinsGAGA (p.Glu491=) | |
| 11 | g.47342711C>A | CA380325250 | MYBPC3 | c.1491G>T (p.Glu497Asp) c.1473G>T (p.Glu491Asp) | |
| 11 | g.47342711C>G | CA380325251 | MYBPC3 | c.1491G>C (p.Glu497Asp) c.1473G>C (p.Glu491Asp) | |
| 11 | g.47342711C>T | CA474219970 | MYBPC3 | c.1491G>A (p.Glu497=) c.1473G>A (p.Glu491=) | |
| 11 | g.47342715_47342717del | CA599374466 | MYBPC3 | c.1489_1491del (p.Glu497del) c.1471_1473del (p.Glu491del) | dbSNP gnomAD v2 gnomAD v4 |