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.47342565dup | CA5975373 | MYBPC3 | c.1624+19dup (n.1624+19dup) c.1606+19dup (n.1606+19dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342564_47342565dup | CA2791323380 | MYBPC3 | c.1624+18_1624+19dup (n.1624+18_1624+19dup) c.1606+18_1606+19dup (n.1606+18_1606+19dup) | |
| 11 | g.47342565del | CA046104 | MYBPC3 | c.1624+19del (n.1624+19del) c.1606+19del (n.1606+19del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342562C>A | CA937671378 | MYBPC3 | c.1624+16G>T (n.1624+16G>T) c.1606+16G>T (n.1606+16G>T) | dbSNP gnomAD v4 |
| 11 | g.47342562C= | CA1969335773 | MYBPC3 | c.1624+16G= (n.1624+16G=) c.1606+16G= (n.1606+16G=) | |
| 11 | g.47342562C>G | CA1969335774 | MYBPC3 | c.1624+16G>C (n.1624+16G>C) c.1606+16G>C (n.1606+16G>C) | dbSNP |
| 11 | g.47342562C>T | CA046113 | MYBPC3 | c.1624+16G>A (n.1624+16G>A) c.1606+16G>A (n.1606+16G>A) | gnomAD v4 |
| 11 | g.47342563C>A | CA2580084237 | MYBPC3 | c.1624+15G>T (n.1624+15G>T) c.1606+15G>T (n.1606+15G>T) | ClinVar gnomAD v4 |
| 11 | g.47342563C= | CA1969335775 | MYBPC3 | c.1624+15G= (n.1624+15G=) c.1606+15G= (n.1606+15G=) | |
| 11 | g.47342563C>G | CA078215 | MYBPC3 | c.1624+15G>C (n.1624+15G>C) c.1606+15G>C (n.1606+15G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342563C>T | CA046097 | MYBPC3 | c.1624+15G>A (n.1624+15G>A) c.1606+15G>A (n.1606+15G>A) | gnomAD v4 |
| 11 | g.47342563_47342564insT | CA010744 | MYBPC3 | c.1624+14_1624+15insA (n.1624+14_1624+15insA) c.1606+14_1606+15insA (n.1606+14_1606+15insA) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342564C>A | CA2613402749 | MYBPC3 | c.1624+14G>T (n.1624+14G>T) c.1606+14G>T (n.1606+14G>T) | gnomAD v4 |
| 11 | g.47342564C= | CA1969335778 | MYBPC3 | c.1624+14G= (n.1624+14G=) c.1606+14G= (n.1606+14G=) | |
| 11 | g.47342564C>G | CA010753 | MYBPC3 | c.1624+14G>C (n.1624+14G>C) c.1606+14G>C (n.1606+14G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342564C>T | CA046079 | MYBPC3 | c.1624+14G>A (n.1624+14G>A) c.1606+14G>A (n.1606+14G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342565C>A | CA078212 | MYBPC3 | c.1624+13G>T (n.1624+13G>T) c.1606+13G>T (n.1606+13G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342565C= | CA1969335782 | MYBPC3 | c.1624+13G= (n.1624+13G=) c.1606+13G= (n.1606+13G=) | |
| 11 | g.47342565C>G | CA078209 | MYBPC3 | c.1624+13G>C (n.1624+13G>C) c.1606+13G>C (n.1606+13G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342565C>T | CA010739 | MYBPC3 | c.1624+13G>A (n.1624+13G>A) c.1606+13G>A (n.1606+13G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342566A>C | CA2724173976 | MYBPC3 | c.1624+12T>G (n.1624+12T>G) c.1606+12T>G (n.1606+12T>G) | dbSNP |
| 11 | g.47342566dup | CA2574815995 | MYBPC3 | c.1624+12dup (n.1624+12dup) c.1606+12dup (n.1606+12dup) | ClinVar gnomAD v4 |
| 11 | g.47342567G>A | CA2574815997 | MYBPC3 | c.1624+11C>T (n.1624+11C>T) c.1606+11C>T (n.1606+11C>T) | gnomAD v4 |
| 11 | g.47342567G>T | CA2613402771 | MYBPC3 | c.1624+11C>A (n.1624+11C>A) c.1606+11C>A (n.1606+11C>A) | gnomAD v4 |
| 11 | g.47342568C>A | CA046033 | MYBPC3 | c.1624+10G>T (n.1624+10G>T) c.1606+10G>T (n.1606+10G>T) | gnomAD v4 |
| 11 | g.47342568C>G | CA046026 | MYBPC3 | c.1624+10G>C (n.1624+10G>C) c.1606+10G>C (n.1606+10G>C) | |
| 11 | g.47342568C>T | CA046015 | MYBPC3 | c.1624+10G>A (n.1624+10G>A) c.1606+10G>A (n.1606+10G>A) | gnomAD v4 |
| 11 | g.47342569C>A | CA599374410 | MYBPC3 | c.1624+9G>T (n.1624+9G>T) c.1606+9G>T (n.1606+9G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342569C= | CA1969335783 | MYBPC3 | c.1624+9G= (n.1624+9G=) c.1606+9G= (n.1606+9G=) | |
| 11 | g.47342569C>T | CA010797 | MYBPC3 | c.1624+9G>A (n.1624+9G>A) c.1606+9G>A (n.1606+9G>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342572G>A | CA1139661927 | MYBPC3 | c.1624+6C>T (n.1624+6C>T) c.1606+6C>T (n.1606+6C>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342572G= | CA1969335784 | MYBPC3 | c.1624+6C= (n.1624+6C=) c.1606+6C= (n.1606+6C=) | |
| 11 | g.47342572G>T | CA2613402785 | MYBPC3 | c.1624+6C>A (n.1624+6C>A) c.1606+6C>A (n.1606+6C>A) | gnomAD v4 |
| 11 | g.47342573C>A | CA2613402797 | MYBPC3 | c.1624+5G>T (n.1624+5G>T) c.1606+5G>T (n.1606+5G>T) | gnomAD v4 |
| 11 | g.47342573C= | CA1969335786 | MYBPC3 | c.1624+5G= (n.1624+5G=) c.1606+5G= (n.1606+5G=) | |
| 11 | g.47342573C>T | CA010788 | MYBPC3 | c.1624+5G>A (n.1624+5G>A) c.1606+5G>A (n.1606+5G>A) | ClinVar dbSNP |
| 11 | g.47342574T>A | CA010777 | MYBPC3 | c.1624+4A>T (n.1624+4A>T) c.1606+4A>T (n.1606+4A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342574T= | CA1969335788 | MYBPC3 | c.1624+4A= (n.1624+4A=) c.1606+4A= (n.1606+4A=) | |
| 11 | g.47342575C>A | CA2613402805 | MYBPC3 | c.1624+3G>T (n.1624+3G>T) c.1606+3G>T (n.1606+3G>T) | gnomAD v4 |
| 11 | g.47342575C= | CA1969335790 | MYBPC3 | c.1624+3G= (n.1624+3G=) c.1606+3G= (n.1606+3G=) | |
| 11 | g.47342575C>G | CA010769 | MYBPC3 | c.1624+3G>C (n.1624+3G>C) c.1606+3G>C (n.1606+3G>C) | ClinVar dbSNP |
| 11 | g.47342575C>T | CA1139661928 | MYBPC3 | c.1624+3G>A (n.1624+3G>A) c.1606+3G>A (n.1606+3G>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342576A= | CA1969335793 | MYBPC3 | c.1624+2T= (n.1624+2T=) c.1606+2T= (n.1606+2T=) | |
| 11 | g.47342576A>C | CA380324976 | MYBPC3 | c.1624+2T>G (n.1624+2T>G) c.1606+2T>G (n.1606+2T>G) | |
| 11 | g.47342576A>G | CA010761 | MYBPC3 | c.1624+2T>C (n.1624+2T>C) c.1606+2T>C (n.1606+2T>C) | ClinVar dbSNP |
| 11 | g.47342576A>T | CA221695619 | MYBPC3 | c.1624+2T>A (n.1624+2T>A) c.1606+2T>A (n.1606+2T>A) | dbSNP |
| 11 | g.47342577C>A | CA380324977 | MYBPC3 | c.1624+1G>T (n.1624+1G>T) c.1606+1G>T (n.1606+1G>T) | ClinVar dbSNP |
| 11 | g.47342577C= | CA1969335794 | MYBPC3 | c.1624+1G= (n.1624+1G=) c.1606+1G= (n.1606+1G=) | |
| 11 | g.47342577C>G | CA380324978 | MYBPC3 | c.1624+1G>C (n.1624+1G>C) c.1606+1G>C (n.1606+1G>C) | ClinVar dbSNP |
| 11 | g.47342577C>T | CA380324979 | MYBPC3 | c.1624+1G>A (n.1624+1G>A) c.1606+1G>A (n.1606+1G>A) | ClinVar dbSNP |
| 11 | g.47342577_47342578delinsATGAGCT | CA2573051135 | MYBPC3 | c.1624_1624+1delinsAGCTCAT c.1606_1606+1delinsAGCTCAT | |
| 11 | g.47342578C>A | CA380324980 | MYBPC3 | c.1624G>T (p.Glu542Ter) c.1606G>T (p.Glu536Ter) | ClinVar dbSNP |
| 11 | g.47342578C= | CA1969335796 | MYBPC3 | c.1624G= (p.Glu542=) c.1606G= (p.Glu536=) | |
| 11 | g.47342578C>G | CA010806 | MYBPC3 | c.1624G>C (p.Glu542Gln) c.1606G>C (p.Glu536Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342578C>T | CA380324981 | MYBPC3 | c.1624G>A (p.Glu542Lys) c.1606G>A (p.Glu536Lys) | |
| 11 | g.47342579C>A | CA380324982 | MYBPC3 | c.1623G>T (p.Gln541His) c.1605G>T (p.Gln535His) | |
| 11 | g.47342579C= | CA1969335798 | MYBPC3 | c.1623G= (p.Gln541=) c.1605G= (p.Gln535=) | |
| 11 | g.47342579C>G | CA078207 | MYBPC3 | c.1623G>C (p.Gln541His) c.1605G>C (p.Gln535His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342579C>T | CA078205 | MYBPC3 | c.1623G>A (p.Gln541=) c.1605G>A (p.Gln535=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342580T>A | CA380324985 | MYBPC3 | c.1622A>T (p.Gln541Leu) c.1604A>T (p.Gln535Leu) | |
| 11 | g.47342580T>C | CA380324983 | MYBPC3 | c.1622A>G (p.Gln541Arg) c.1604A>G (p.Gln535Arg) | gnomAD v4 |
| 11 | g.47342580T>G | CA380324984 | MYBPC3 | c.1622A>C (p.Gln541Pro) c.1604A>C (p.Gln535Pro) | |
| 11 | g.47342580dup | CA658797632 | MYBPC3 | c.1622dup (p.Glu542GlyfsTer26) c.1604dup (p.Glu536GlyfsTer26) | ClinVar dbSNP |
| 11 | g.47342581G>A | CA16619341 | MYBPC3 | c.1621C>T (p.Gln541Ter) c.1603C>T (p.Gln535Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342581G>C | CA380324986 | MYBPC3 | c.1621C>G (p.Gln541Glu) c.1603C>G (p.Gln535Glu) | gnomAD v4 |
| 11 | g.47342581G= | CA1969335801 | MYBPC3 | c.1621C= (p.Gln541=) c.1603C= (p.Gln535=) | |
| 11 | g.47342581G>T | CA380324987 | MYBPC3 | c.1621C>A (p.Gln541Lys) c.1603C>A (p.Gln535Lys) | |
| 11 | g.47342582del | CA2724173979 | MYBPC3 | c.1620del (p.Gln541ArgfsTer14) c.1602del (p.Gln535ArgfsTer14) | dbSNP |
| 11 | g.47342582C>A | CA474219556 | MYBPC3 | c.1620G>T (p.Val540=) c.1602G>T (p.Val534=) | dbSNP gnomAD v4 |
| 11 | g.47342582C= | CA1969335802 | MYBPC3 | c.1620G= (p.Val540=) c.1602G= (p.Val534=) | |
| 11 | g.47342582C>G | CA046006 | MYBPC3 | c.1620G>C (p.Val540=) c.1602G>C (p.Val534=) | |
| 11 | g.47342582C>T | CA045994 | MYBPC3 | c.1620G>A (p.Val540=) c.1602G>A (p.Val534=) | |
| 11 | g.47342583A= | CA1969335804 | MYBPC3 | c.1619T= (p.Val540=) c.1601T= (p.Val534=) | |
| 11 | g.47342583A>C | CA380324988 | MYBPC3 | c.1619T>G (p.Val540Gly) c.1601T>G (p.Val534Gly) | dbSNP |
| 11 | g.47342583A>G | CA380324989 | MYBPC3 | c.1619T>C (p.Val540Ala) c.1601T>C (p.Val534Ala) | |
| 11 | g.47342583A>T | CA380324990 | MYBPC3 | c.1619T>A (p.Val540Glu) c.1601T>A (p.Val534Glu) | |
| 11 | g.47342584C>A | CA380324991 | MYBPC3 | c.1618G>T (p.Val540Leu) c.1600G>T (p.Val534Leu) | |
| 11 | g.47342584C= | CA1969335805 | MYBPC3 | c.1618G= (p.Val540=) c.1600G= (p.Val534=) | |
| 11 | g.47342584C>G | CA380324992 | MYBPC3 | c.1618G>C (p.Val540Leu) c.1600G>C (p.Val534Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342584C>T | CA380324993 | MYBPC3 | c.1618G>A (p.Val540Met) c.1600G>A (p.Val534Met) | gnomAD v4 |
| 11 | g.47342585A= | CA1969335806 | MYBPC3 | c.1617T= (p.Ile539=) c.1599T= (p.Ile533=) | |
| 11 | g.47342585A>C | CA380324994 | MYBPC3 | c.1617T>G (p.Ile539Met) c.1599T>G (p.Ile533Met) | |
| 11 | g.47342585A>G | CA474219563 | MYBPC3 | c.1617T>C (p.Ile539=) c.1599T>C (p.Ile533=) | ClinVar dbSNP |
| 11 | g.47342585A>T | CA474219565 | MYBPC3 | c.1617T>A (p.Ile539=) c.1599T>A (p.Ile533=) | |
| 11 | g.47342586A= | CA1969335808 | MYBPC3 | c.1616T= (p.Ile539=) c.1598T= (p.Ile533=) | |
| 11 | g.47342586A>C | CA380324996 | MYBPC3 | c.1616T>G (p.Ile539Ser) c.1598T>G (p.Ile533Ser) | ClinVar dbSNP |
| 11 | g.47342586A>G | CA380324997 | MYBPC3 | c.1616T>C (p.Ile539Thr) c.1598T>C (p.Ile533Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342586A>T | CA380324995 | MYBPC3 | c.1616T>A (p.Ile539Asn) c.1598T>A (p.Ile533Asn) | |
| 11 | g.47342587T>A | CA380324998 | MYBPC3 | c.1615A>T (p.Ile539Phe) c.1597A>T (p.Ile533Phe) | |
| 11 | g.47342587T>C | CA078202 | MYBPC3 | c.1615A>G (p.Ile539Val) c.1597A>G (p.Ile533Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342587T>G | CA380324999 | MYBPC3 | c.1615A>C (p.Ile539Leu) c.1597A>C (p.Ile533Leu) | gnomAD v4 |
| 11 | g.47342587T= | CA1969335810 | MYBPC3 | c.1615A= (p.Ile539=) c.1597A= (p.Ile533=) | |
| 11 | g.47342590_47342591insGTGAG | CA1139661929 | MYBPC3 | c.1615_1616insCCTCA (p.Ile539ThrfsTer18) c.1597_1598insCCTCA (p.Ile533ThrfsTer18) | ClinVar dbSNP |
| 11 | g.47342588G>A | CA474219573 | MYBPC3 | c.1614C>T (p.Leu538=) c.1596C>T (p.Leu532=) | |
| 11 | g.47342588G>C | CA046279 | MYBPC3 | c.1614C>G (p.Leu538=) c.1596C>G (p.Leu532=) | |
| 11 | g.47342588G>T | CA474219575 | MYBPC3 | c.1614C>A (p.Leu538=) c.1596C>A (p.Leu532=) | |
| 11 | g.47342589A>C | CA380325000 | MYBPC3 | c.1613T>G (p.Leu538Arg) c.1595T>G (p.Leu532Arg) | |
| 11 | g.47342589A>G | CA380325001 | MYBPC3 | c.1613T>C (p.Leu538Pro) c.1595T>C (p.Leu532Pro) | |
| 11 | g.47342589A>T | CA380325002 | MYBPC3 | c.1613T>A (p.Leu538His) c.1595T>A (p.Leu532His) | |
| 11 | g.47342590G>A | CA380325003 | MYBPC3 | c.1612C>T (p.Leu538Phe) c.1594C>T (p.Leu532Phe) | |
| 11 | g.47342590G>C | CA380325005 | MYBPC3 | c.1612C>G (p.Leu538Val) c.1594C>G (p.Leu532Val) | gnomAD v4 |
| 11 | g.47342590G>T | CA380325004 | MYBPC3 | c.1612C>A (p.Leu538Ile) c.1594C>A (p.Leu532Ile) | |
| 11 | g.47342591C>A | CA380325006 | MYBPC3 | c.1611G>T (p.Glu537Asp) c.1593G>T (p.Glu531Asp) | gnomAD v4 |
| 11 | g.47342591C>G | CA380325007 | MYBPC3 | c.1611G>C (p.Glu537Asp) c.1593G>C (p.Glu531Asp) | |
| 11 | g.47342591C>T | CA474219583 | MYBPC3 | c.1611G>A (p.Glu537=) c.1593G>A (p.Glu531=) | gnomAD v4 |
| 11 | g.47342592T>A | CA380325008 | MYBPC3 | c.1610A>T (p.Glu537Val) c.1592A>T (p.Glu531Val) | |
| 11 | g.47342592T>C | CA380325009 | MYBPC3 | c.1610A>G (p.Glu537Gly) c.1592A>G (p.Glu531Gly) | gnomAD v4 |
| 11 | g.47342592T>G | CA380325010 | MYBPC3 | c.1610A>C (p.Glu537Ala) c.1592A>C (p.Glu531Ala) | |
| 11 | g.47342593C>A | CA380325013 | MYBPC3 | c.1609G>T (p.Glu537Ter) c.1591G>T (p.Glu531Ter) | ClinVar dbSNP |
| 11 | g.47342593C>G | CA380325012 | MYBPC3 | c.1609G>C (p.Glu537Gln) c.1591G>C (p.Glu531Gln) | |
| 11 | g.47342593C>T | CA380325011 | MYBPC3 | c.1609G>A (p.Glu537Lys) c.1591G>A (p.Glu531Lys) | COSMIC COSMIC |
| 11 | g.47342594A= | CA1969335813 | MYBPC3 | c.1608T= (p.Ala536=) c.1590T= (p.Ala530=) | |
| 11 | g.47342594A>C | CA474219597 | MYBPC3 | c.1608T>G (p.Ala536=) c.1590T>G (p.Ala530=) | |
| 11 | g.47342594A>G | CA474219599 | MYBPC3 | c.1608T>C (p.Ala536=) c.1590T>C (p.Ala530=) | ClinVar gnomAD v4 |
| 11 | g.47342594A>T | CA010731 | MYBPC3 | c.1608T>A (p.Ala536=) c.1590T>A (p.Ala530=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342595G>A | CA380325014 | MYBPC3 | c.1607C>T (p.Ala536Val) c.1589C>T (p.Ala530Val) | gnomAD v4 |
| 11 | g.47342595G>C | CA380325015 | MYBPC3 | c.1607C>G (p.Ala536Gly) c.1589C>G (p.Ala530Gly) | |
| 11 | g.47342595G>T | CA380325016 | MYBPC3 | c.1607C>A (p.Ala536Asp) c.1589C>A (p.Ala530Asp) | |
| 11 | g.47342596C>A | CA380325017 | MYBPC3 | c.1606G>T (p.Ala536Ser) c.1588G>T (p.Ala530Ser) | |
| 11 | g.47342596C= | CA1969335814 | MYBPC3 | c.1606G= (p.Ala536=) c.1588G= (p.Ala530=) | |
| 11 | g.47342596C>G | CA380325018 | MYBPC3 | c.1606G>C (p.Ala536Pro) c.1588G>C (p.Ala530Pro) | ClinVar dbSNP |
| 11 | g.47342596C>T | CA380325019 | MYBPC3 | c.1606G>A (p.Ala536Thr) c.1588G>A (p.Ala530Thr) | gnomAD v4 |
| 11 | g.47342597C>A | CA474219603 | MYBPC3 | c.1605G>T (p.Leu535=) c.1587G>T (p.Leu529=) | |
| 11 | g.47342597C>G | CA474219607 | MYBPC3 | c.1605G>C (p.Leu535=) c.1587G>C (p.Leu529=) | gnomAD v4 |
| 11 | g.47342597C>T | CA474219605 | MYBPC3 | c.1605G>A (p.Leu535=) c.1587G>A (p.Leu529=) | ClinVar |
| 11 | g.47342598A= | CA1969335815 | MYBPC3 | c.1604T= (p.Leu535=) c.1586T= (p.Leu529=) | |
| 11 | g.47342598A>C | CA380325021 | MYBPC3 | c.1604T>G (p.Leu535Arg) c.1586T>G (p.Leu529Arg) | |
| 11 | g.47342598A>G | CA010722 | MYBPC3 | c.1604T>C (p.Leu535Pro) c.1586T>C (p.Leu529Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342598A>T | CA380325020 | MYBPC3 | c.1604T>A (p.Leu535Gln) c.1586T>A (p.Leu529Gln) | |
| 11 | g.47342598_47342600delinsAGC | CA1969335817 | MYBPC3 | c.1602_1604delinsGCT (p.Ala534=) c.1584_1586delinsGCT (p.Ala528=) | |
| 11 | g.47342599G>A | CA474219608 | MYBPC3 | c.1603C>T (p.Leu535=) c.1585C>T (p.Leu529=) | gnomAD v4 |
| 11 | g.47342599G>C | CA380325022 | MYBPC3 | c.1603C>G (p.Leu535Val) c.1585C>G (p.Leu529Val) | |
| 11 | g.47342599G>T | CA380325023 | MYBPC3 | c.1603C>A (p.Leu535Met) c.1585C>A (p.Leu529Met) | |
| 11 | g.47342601_47342602del | CA676999863 | MYBPC3 | c.1602_1603del (p.Leu535GlyfsTer2) c.1584_1585del (p.Leu529GlyfsTer2) | dbSNP gnomAD v4 |
| 11 | g.47342600C>A | CA474219611 | MYBPC3 | c.1602G>T (p.Ala534=) c.1584G>T (p.Ala528=) | ClinVar dbSNP |
| 11 | g.47342600C= | CA1969335819 | MYBPC3 | c.1602G= (p.Ala534=) c.1584G= (p.Ala528=) | |
| 11 | g.47342600C>G | CA474219613 | MYBPC3 | c.1602G>C (p.Ala534=) c.1584G>C (p.Ala528=) | |
| 11 | g.47342600C>T | CA010713 | MYBPC3 | c.1602G>A (p.Ala534=) c.1584G>A (p.Ala528=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342601G>A | CA078197 | MYBPC3 | c.1601C>T (p.Ala534Val) c.1583C>T (p.Ala528Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342601G>C | CA380325024 | MYBPC3 | c.1601C>G (p.Ala534Gly) c.1583C>G (p.Ala528Gly) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342601G= | CA1969335823 | MYBPC3 | c.1601C= (p.Ala534=) c.1583C= (p.Ala528=) | |
| 11 | g.47342601G>T | CA380325025 | MYBPC3 | c.1601C>A (p.Ala534Glu) c.1583C>A (p.Ala528Glu) | dbSNP COSMIC COSMIC |
| 11 | g.47342602C>A | CA380325026 | MYBPC3 | c.1600G>T (p.Ala534Ser) c.1582G>T (p.Ala528Ser) | |
| 11 | g.47342602C>G | CA380325028 | MYBPC3 | c.1600G>C (p.Ala534Pro) c.1582G>C (p.Ala528Pro) | |
| 11 | g.47342602C>T | CA380325027 | MYBPC3 | c.1600G>A (p.Ala534Thr) c.1582G>A (p.Ala528Thr) | |
| 11 | g.47342603C>A | CA380325029 | MYBPC3 | c.1599G>T (p.Gln533His) c.1581G>T (p.Gln527His) | gnomAD v4 |
| 11 | g.47342603C= | CA1969335824 | MYBPC3 | c.1599G= (p.Gln533=) c.1581G= (p.Gln527=) | |
| 11 | g.47342603C>G | CA078194 | MYBPC3 | c.1599G>C (p.Gln533His) c.1581G>C (p.Gln527His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342603C>T | CA045949 | MYBPC3 | c.1599G>A (p.Gln533=) c.1581G>A (p.Gln527=) | dbSNP |
| 11 | g.47342604T>A | CA380325030 | MYBPC3 | c.1598A>T (p.Gln533Leu) c.1580A>T (p.Gln527Leu) | gnomAD v4 |
| 11 | g.47342604T>C | CA380325031 | MYBPC3 | c.1598A>G (p.Gln533Arg) c.1580A>G (p.Gln527Arg) | dbSNP gnomAD v4 |
| 11 | g.47342604T>G | CA380325032 | MYBPC3 | c.1598A>C (p.Gln533Pro) c.1580A>C (p.Gln527Pro) | |
| 11 | g.47342604T= | CA1969335826 | MYBPC3 | c.1598A= (p.Gln533=) c.1580A= (p.Gln527=) | |
| 11 | g.47342605G>A | CA380325033 | MYBPC3 | c.1597C>T (p.Gln533Ter) c.1579C>T (p.Gln527Ter) | ClinVar |
| 11 | g.47342605G>C | CA380325034 | MYBPC3 | c.1597C>G (p.Gln533Glu) c.1579C>G (p.Gln527Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342605G= | CA1969335828 | MYBPC3 | c.1597C= (p.Gln533=) c.1579C= (p.Gln527=) | |
| 11 | g.47342605G>T | CA380325035 | MYBPC3 | c.1597C>A (p.Gln533Lys) c.1579C>A (p.Gln527Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342606del | CA915940859 | MYBPC3 | c.1597del (p.Gln533ArgfsTer22) c.1579del (p.Gln527ArgfsTer22) | |
| 11 | g.47342606G>A | CA474219626 | MYBPC3 | c.1596C>T (p.Gly532=) c.1578C>T (p.Gly526=) | |
| 11 | g.47342606G>C | CA474219627 | MYBPC3 | c.1596C>G (p.Gly532=) c.1578C>G (p.Gly526=) | |
| 11 | g.47342606G>T | CA474219629 | MYBPC3 | c.1596C>A (p.Gly532=) c.1578C>A (p.Gly526=) | |
| 11 | g.47342606_47342607delinsA | CA2580084244 | MYBPC3 | c.1595_1596delinsT (p.Gly532ValfsTer23) c.1577_1578delinsT (p.Gly526ValfsTer23) | ClinVar |
| 11 | g.47342606_47342607delinsGC | CA1969335830 | MYBPC3 | c.1595_1596delinsGC (p.Gly532=) c.1577_1578delinsGC (p.Gly526=) | |
| 11 | g.47342607C>A | CA010705 | MYBPC3 | c.1595G>T (p.Gly532Val) c.1577G>T (p.Gly526Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342607C= | CA1969335834 | MYBPC3 | c.1595G= (p.Gly532=) c.1577G= (p.Gly526=) | |
| 11 | g.47342607C>G | CA380325036 | MYBPC3 | c.1595G>C (p.Gly532Ala) c.1577G>C (p.Gly526Ala) | |
| 11 | g.47342607C>T | CA078192 | MYBPC3 | c.1595G>A (p.Gly532Asp) c.1577G>A (p.Gly526Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 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.47342608C>A | CA380325037 | MYBPC3 | c.1594G>T (p.Gly532Cys) c.1576G>T (p.Gly526Cys) | gnomAD v4 |
| 11 | g.47342608C= | CA1969335838 | MYBPC3 | c.1594G= (p.Gly532=) c.1576G= (p.Gly526=) | |
| 11 | g.47342608C>G | CA380325039 | MYBPC3 | c.1594G>C (p.Gly532Arg) c.1576G>C (p.Gly526Arg) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342608C>T | CA380325038 | MYBPC3 | c.1594G>A (p.Gly532Ser) c.1576G>A (p.Gly526Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342614_47342638del | CA658797633 | MYBPC3 | c.1570_1594del (p.His524AlafsTer23) c.1552_1576del (p.His518AlafsTer23) | ClinVar dbSNP |
| 11 | g.47342609C>A | CA474219640 | MYBPC3 | c.1593G>T (p.Gly531=) c.1575G>T (p.Gly525=) | |
| 11 | g.47342609C= | CA1969335841 | MYBPC3 | c.1593G= (p.Gly531=) c.1575G= (p.Gly525=) | |
| 11 | g.47342609C>G | CA046173 | MYBPC3 | c.1593G>C (p.Gly531=) c.1575G>C (p.Gly525=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342609C>T | CA010688 | MYBPC3 | c.1593G>A (p.Gly531=) c.1575G>A (p.Gly525=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47342610C>A | CA380325040 | MYBPC3 | c.1592G>T (p.Gly531Val) c.1574G>T (p.Gly525Val) | |
| 11 | g.47342610C>G | CA380325041 | MYBPC3 | c.1592G>C (p.Gly531Ala) c.1574G>C (p.Gly525Ala) | |
| 11 | g.47342610C>T | CA045914 | MYBPC3 | c.1592G>A (p.Gly531Glu) c.1574G>A (p.Gly525Glu) | |
| 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=) |