Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23416229C>A | CA485766378 | MHRT,MYH7 | c.4728G>T (p.Leu1576=) n.490C>A | |
14 | g.23416229C>G | CA485766379 | MHRT,MYH7 | c.4728G>C (p.Leu1576=) n.490C>G | |
14 | g.23416229C>T | CA485766380 | MHRT,MYH7 | c.4728G>A (p.Leu1576=) n.490C>T | |
14 | g.23416230A>C | CA389037768 | MHRT,MYH7 | c.4727T>G (p.Leu1576Arg) n.491A>C | |
14 | g.23416230A>G | CA389037769 | MHRT,MYH7 | c.4727T>C (p.Leu1576Pro) n.491A>G | |
14 | g.23416230A>T | CA389037770 | MHRT,MYH7 | c.4727T>A (p.Leu1576Gln) n.491A>T | |
14 | g.23416231G>A | CA485766385 | MHRT,MYH7 | c.4726C>T (p.Leu1576=) n.492G>A | |
14 | g.23416231G>C | CA389037771 | MHRT,MYH7 | c.4726C>G (p.Leu1576Val) n.492G>C | dbSNP gnomAD v2 |
14 | g.23416231G= | CA2123465835 | MHRT,MYH7 | c.4726C= (p.Leu1576=) n.492G= | |
14 | g.23416231G>T | CA389037772 | MHRT,MYH7 | c.4726C>A (p.Leu1576Met) n.492G>T | |
14 | g.23416232C>A | CA389037774 | MHRT,MYH7 | c.4725G>T (p.Lys1575Asn) n.493C>A | ClinVar dbSNP gnomAD v4 |
14 | g.23416232C= | CA2123465844 | MHRT,MYH7 | c.4725G= (p.Lys1575=) n.493C= | |
14 | g.23416232C>G | CA389037773 | MHRT,MYH7 | c.4725G>C (p.Lys1575Asn) n.493C>G | |
14 | g.23416232C>T | CA015268 | MHRT,MYH7 | c.4725G>A (p.Lys1575=) n.493C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23416233T>A | CA389037775 | MHRT,MYH7 | c.4724A>T (p.Lys1575Met) n.494T>A | |
14 | g.23416233T>C | CA389037776 | MHRT,MYH7 | c.4724A>G (p.Lys1575Arg) n.494T>C | gnomAD v4 |
14 | g.23416233T>G | CA389037777 | MHRT,MYH7 | c.4724A>C (p.Lys1575Thr) n.494T>G | |
14 | g.23416234T>A | CA389037778 | MHRT,MYH7 | c.4723A>T (p.Lys1575Ter) n.495T>A | |
14 | g.23416234T>C | CA389037779 | MHRT,MYH7 | c.4723A>G (p.Lys1575Glu) n.495T>C | |
14 | g.23416234T>G | CA389037780 | MHRT,MYH7 | c.4723A>C (p.Lys1575Gln) n.495T>G | |
14 | g.23416235C>A | CA485766394 | MHRT,MYH7 | c.4722G>T (p.Arg1574=) n.496C>A | |
14 | g.23416235C>G | CA485766393 | MHRT,MYH7 | c.4722G>C (p.Arg1574=) n.496C>G | |
14 | g.23416235C>T | CA485766392 | MHRT,MYH7 | c.4722G>A (p.Arg1574=) n.496C>T | |
14 | g.23416236del | CA485766391 | MHRT,MYH7 | c.4722del (p.Lys1575SerfsTer?) n.497del | COSMIC |
14 | g.23416236C>A | CA389037782 | MHRT,MYH7 | c.4721G>T (p.Arg1574Leu) n.497C>A | |
14 | g.23416236C= | CA2123465848 | MHRT,MYH7 | c.4721G= (p.Arg1574=) n.497C= | |
14 | g.23416236C>G | CA389037781 | MHRT,MYH7 | c.4721G>C (p.Arg1574Pro) n.497C>G | ClinVar dbSNP |
14 | g.23416236C>T | CA043706 | MHRT,MYH7 | c.4721G>A (p.Arg1574Gln) n.497C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.23416237G>A | CA015258 | MHRT,MYH7 | c.4720C>T (p.Arg1574Trp) n.498G>A | ClinVar dbSNP gnomAD v4 |
14 | g.23416237G>C | CA389037783 | MHRT,MYH7 | c.4720C>G (p.Arg1574Gly) n.498G>C | |
14 | g.23416237G= | CA2123465857 | MHRT,MYH7 | c.4720C= (p.Arg1574=) n.498G= | |
14 | g.23416237G>T | CA485766398 | MHRT,MYH7 | c.4720C>A (p.Arg1574=) n.498G>T | dbSNP gnomAD v4 |
14 | g.23416238C>A | CA389037784 | MHRT,MYH7 | c.4719G>T (p.Glu1573Asp) n.499C>A | |
14 | g.23416238C= | CA2123465860 | MHRT,MYH7 | c.4719G= (p.Glu1573=) n.499C= | |
14 | g.23416238C>G | CA389037785 | MHRT,MYH7 | c.4719G>C (p.Glu1573Asp) n.499C>G | |
14 | g.23416238C>T | CA485766401 | MHRT,MYH7 | c.4719G>A (p.Glu1573=) n.499C>T | dbSNP |
14 | g.23416239T>A | CA389037786 | MHRT,MYH7 | c.4718A>T (p.Glu1573Val) n.500T>A | |
14 | g.23416239T>C | CA389037787 | MHRT,MYH7 | c.4718A>G (p.Glu1573Gly) n.500T>C | |
14 | g.23416239T>G | CA389037788 | MHRT,MYH7 | c.4718A>C (p.Glu1573Ala) n.500T>G | |
14 | g.23416240C>A | CA389037789 | MHRT,MYH7 | c.4717G>T (p.Glu1573Ter) n.501C>A | |
14 | g.23416240C= | CA2123465864 | MHRT,MYH7 | c.4717G= (p.Glu1573=) n.501C= | |
14 | g.23416240C>G | CA389037790 | MHRT,MYH7 | c.4717G>C (p.Glu1573Gln) n.501C>G | COSMIC |
14 | g.23416240C>T | CA043695 | MHRT,MYH7 | c.4717G>A (p.Glu1573Lys) n.501C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23416241G>A | CA015251 | MHRT,MYH7 | c.4716C>T (p.Ile1572=) n.502G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.23416241G>C | CA389037791 | MHRT,MYH7 | c.4716C>G (p.Ile1572Met) n.502G>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.23416241G= | CA2123465879 | MHRT,MYH7 | c.4716C= (p.Ile1572=) n.502G= | |
14 | g.23416241G>T | CA485766404 | MHRT,MYH7 | c.4716C>A (p.Ile1572=) n.502G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.23416242A>C | CA389037792 | MHRT,MYH7 | c.4715T>G (p.Ile1572Ser) n.503A>C | |
14 | g.23416242A>G | CA389037794 | MHRT,MYH7 | c.4715T>C (p.Ile1572Thr) n.503A>G | |
14 | g.23416242A>T | CA389037793 | MHRT,MYH7 | c.4715T>A (p.Ile1572Asn) n.503A>T | |
14 | g.23416243T>A | CA389037795 | MHRT,MYH7 | c.4714A>T (p.Ile1572Phe) n.504T>A | |
14 | g.23416243T>C | CA389037796 | MHRT,MYH7 | c.4714A>G (p.Ile1572Val) n.504T>C | ClinVar |
14 | g.23416243T>G | CA389037797 | MHRT,MYH7 | c.4714A>C (p.Ile1572Leu) n.504T>G | |
14 | g.23416244C>A | CA389037798 | MHRT,MYH7 | c.4713G>T (p.Glu1571Asp) n.505C>A | gnomAD v4 |
14 | g.23416244C>G | CA389037799 | MHRT,MYH7 | c.4713G>C (p.Glu1571Asp) n.505C>G | gnomAD v4 |
14 | g.23416244C>T | CA485766410 | MHRT,MYH7 | c.4713G>A (p.Glu1571=) n.505C>T | |
14 | g.23416245T>A | CA389037802 | MHRT,MYH7 | c.4712A>T (p.Glu1571Val) n.506T>A | |
14 | g.23416245T>C | CA389037801 | MHRT,MYH7 | c.4712A>G (p.Glu1571Gly) n.506T>C | |
14 | g.23416245T>G | CA389037800 | MHRT,MYH7 | c.4712A>C (p.Glu1571Ala) n.506T>G | |
14 | g.23416246C>A | CA389037803 | MHRT,MYH7 | c.4711G>T (p.Glu1571Ter) n.507C>A | |
14 | g.23416246C>G | CA389037804 | MHRT,MYH7 | c.4711G>C (p.Glu1571Gln) n.507C>G | |
14 | g.23416246C>T | CA389037805 | MHRT,MYH7 | c.4711G>A (p.Glu1571Lys) n.507C>T | gnomAD v4 |
14 | g.23416247T>A | CA485766412 | MHRT,MYH7 | c.4710A>T (p.Ala1570=) n.508T>A | |
14 | g.23416247T>C | CA485766413 | MHRT,MYH7 | c.4710A>G (p.Ala1570=) n.508T>C | |
14 | g.23416247T>G | CA485766416 | MHRT,MYH7 | c.4710A>C (p.Ala1570=) n.508T>G | |
14 | g.23416248G>A | CA389037806 | MHRT,MYH7 | c.4709C>T (p.Ala1570Val) n.509G>A | dbSNP |
14 | g.23416248G>C | CA389037807 | MHRT,MYH7 | c.4709C>G (p.Ala1570Gly) n.509G>C | |
14 | g.23416248G= | CA2123465892 | MHRT,MYH7 | c.4709C= (p.Ala1570=) n.509G= | |
14 | g.23416248G>T | CA015247 | MHRT,MYH7 | c.4709C>A (p.Ala1570Glu) n.509G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.23416249C>A | CA389037810 | MHRT,MYH7 | c.4708G>T (p.Ala1570Ser) n.510C>A | |
14 | g.23416249C>G | CA389037808 | MHRT,MYH7 | c.4708G>C (p.Ala1570Pro) n.510C>G | |
14 | g.23416249C>T | CA389037809 | MHRT,MYH7 | c.4708G>A (p.Ala1570Thr) n.510C>T | ClinVar gnomAD v4 |
14 | g.23416250C>A | CA015240 | MHRT,MYH7 | c.4707G>T (p.Lys1569Asn) n.511C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.23416250C= | CA2123465907 | MHRT,MYH7 | c.4707G= (p.Lys1569=) n.511C= | |
14 | g.23416250C>G | CA043659 | MHRT,MYH7 | c.4707G>C (p.Lys1569Asn) n.511C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23416250C>T | CA485766417 | MHRT,MYH7 | c.4707G>A (p.Lys1569=) n.511C>T | |
14 | g.23416251T>A | CA389037811 | MHRT,MYH7 | c.4706A>T (p.Lys1569Met) n.512T>A | |
14 | g.23416251T>C | CA389037812 | MHRT,MYH7 | c.4706A>G (p.Lys1569Arg) n.512T>C | |
14 | g.23416251T>G | CA389037813 | MHRT,MYH7 | c.4706A>C (p.Lys1569Thr) n.512T>G | |
14 | g.23416252T>A | CA389037814 | MHRT,MYH7 | c.4705A>T (p.Lys1569Ter) n.513T>A | |
14 | g.23416252T>C | CA389037815 | MHRT,MYH7 | c.4705A>G (p.Lys1569Glu) n.513T>C | |
14 | g.23416252T>G | CA389037816 | MHRT,MYH7 | c.4705A>C (p.Lys1569Gln) n.513T>G | |
14 | g.23416253G>A | CA485766419 | MHRT,MYH7 | c.4704C>T (p.Ile1568=) n.514G>A | |
14 | g.23416253G>C | CA389037817 | MHRT,MYH7 | c.4704C>G (p.Ile1568Met) n.514G>C | |
14 | g.23416253G>T | CA485766420 | MHRT,MYH7 | c.4704C>A (p.Ile1568=) n.514G>T | ClinVar |
14 | g.23416254A>C | CA389037818 | MHRT,MYH7 | c.4703T>G (p.Ile1568Ser) n.515A>C | |
14 | g.23416254A>G | CA389037819 | MHRT,MYH7 | c.4703T>C (p.Ile1568Thr) n.515A>G | |
14 | g.23416254A>T | CA389037820 | MHRT,MYH7 | c.4703T>A (p.Ile1568Asn) n.515A>T | |
14 | g.23416255T>A | CA389037821 | MHRT,MYH7 | c.4702A>T (p.Ile1568Phe) n.516T>A | |
14 | g.23416255T>C | CA389037823 | MHRT,MYH7 | c.4702A>G (p.Ile1568Val) n.516T>C | ClinVar dbSNP |
14 | g.23416255T>G | CA389037822 | MHRT,MYH7 | c.4702A>C (p.Ile1568Leu) n.516T>G | |
14 | g.23416255T= | CA2123465914 | MHRT,MYH7 | c.4702A= (p.Ile1568=) n.516T= | |
14 | g.23416256C>A | CA389037824 | MHRT,MYH7 | c.4701G>T (p.Gln1567His) n.517C>A | |
14 | g.23416256C= | CA2123465918 | MHRT,MYH7 | c.4701G= (p.Gln1567=) n.517C= | |
14 | g.23416256C>G | CA389037825 | MHRT,MYH7 | c.4701G>C (p.Gln1567His) n.517C>G | ClinVar dbSNP |
14 | g.23416256C>T | CA485766422 | MHRT,MYH7 | c.4701G>A (p.Gln1567=) n.517C>T | |
14 | g.23416257T>A | CA389037826 | MHRT,MYH7 | c.4700A>T (p.Gln1567Leu) n.518T>A | |
14 | g.23416257T>C | CA389037827 | MHRT,MYH7 | c.4700A>G (p.Gln1567Arg) n.518T>C | |
14 | g.23416257T>G | CA389037828 | MHRT,MYH7 | c.4700A>C (p.Gln1567Pro) n.518T>G | ClinVar COSMIC |
14 | g.23416258G>A | CA389037829 | MHRT,MYH7 | c.4699C>T (p.Gln1567Ter) n.519G>A | ClinVar dbSNP gnomAD v4 |
14 | g.23416258G>C | CA389037830 | MHRT,MYH7 | c.4699C>G (p.Gln1567Glu) n.519G>C | |
14 | g.23416258G= | CA2123465922 | MHRT,MYH7 | c.4699C= (p.Gln1567=) n.519G= | |
14 | g.23416258G>T | CA389037831 | MHRT,MYH7 | c.4699C>A (p.Gln1567Lys) n.519G>T | |
14 | g.23416259G>A | CA485766423 | MHRT,MYH7 | c.4698C>T (p.Asn1566=) n.520G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23416259G>C | CA389037832 | MHRT,MYH7 | c.4698C>G (p.Asn1566Lys) n.520G>C | |
14 | g.23416259G= | CA2123465931 | MHRT,MYH7 | c.4698C= (p.Asn1566=) n.520G= | |
14 | g.23416259G>T | CA389037833 | MHRT,MYH7 | c.4698C>A (p.Asn1566Lys) n.520G>T | |
14 | g.23416260T>A | CA389037834 | MHRT,MYH7 | c.4697A>T (p.Asn1566Ile) n.521T>A | |
14 | g.23416260T>C | CA257810700 | MHRT,MYH7 | c.4697A>G (p.Asn1566Ser) n.521T>C | ClinVar dbSNP gnomAD v4 |
14 | g.23416260T>G | CA389037835 | MHRT,MYH7 | c.4697A>C (p.Asn1566Thr) n.521T>G | |
14 | g.23416260T= | CA2123465941 | MHRT,MYH7 | c.4697A= (p.Asn1566=) n.521T= | |
14 | g.23416261T>A | CA389037836 | MHRT,MYH7 | c.4696A>T (p.Asn1566Tyr) n.522T>A | |
14 | g.23416261T>C | CA389037838 | MHRT,MYH7 | c.4696A>G (p.Asn1566Asp) n.522T>C | |
14 | g.23416261T>G | CA389037837 | MHRT,MYH7 | c.4696A>C (p.Asn1566His) n.522T>G | |
14 | g.23416262G>A | CA485766428 | MHRT,MYH7 | c.4695C>T (p.Phe1565=) n.523G>A | |
14 | g.23416262G>C | CA389037839 | MHRT,MYH7 | c.4695C>G (p.Phe1565Leu) n.523G>C | |
14 | g.23416262G>T | CA389037840 | MHRT,MYH7 | c.4695C>A (p.Phe1565Leu) n.523G>T | |
14 | g.23416263A>C | CA389037841 | MHRT,MYH7 | c.4694T>G (p.Phe1565Cys) n.524A>C | |
14 | g.23416263A>G | CA389037842 | MHRT,MYH7 | c.4694T>C (p.Phe1565Ser) n.524A>G | |
14 | g.23416263A>T | CA389037843 | MHRT,MYH7 | c.4694T>A (p.Phe1565Tyr) n.524A>T | |
14 | g.23416264A>C | CA389037844 | MHRT,MYH7 | c.4693T>G (p.Phe1565Val) n.525A>C | gnomAD v3 gnomAD v4 |
14 | g.23416264A>G | CA389037845 | MHRT,MYH7 | c.4693T>C (p.Phe1565Leu) n.525A>G | gnomAD v4 |
14 | g.23416264A>T | CA389037846 | MHRT,MYH7 | c.4693T>A (p.Phe1565Ile) n.525A>T | |
14 | g.23416265C>A | CA389037847 | MHRT,MYH7 | c.4692G>T (p.Glu1564Asp) n.526C>A | |
14 | g.23416265C>G | CA389037848 | MHRT,MYH7 | c.4692G>C (p.Glu1564Asp) n.526C>G | |
14 | g.23416265C>T | CA485766434 | MHRT,MYH7 | c.4692G>A (p.Glu1564=) n.526C>T | |
14 | g.23416266T>A | CA389037851 | MHRT,MYH7 | c.4691A>T (p.Glu1564Val) n.527T>A | |
14 | g.23416266T>C | CA389037850 | MHRT,MYH7 | c.4691A>G (p.Glu1564Gly) n.527T>C | |
14 | g.23416266T>G | CA389037849 | MHRT,MYH7 | c.4691A>C (p.Glu1564Ala) n.527T>G | ClinVar |
14 | g.23416267C>A | CA389037852 | MHRT,MYH7 | c.4690G>T (p.Glu1564Ter) n.528C>A | |
14 | g.23416267C>G | CA389037854 | MHRT,MYH7 | c.4690G>C (p.Glu1564Gln) n.528C>G | gnomAD v4 |
14 | g.23416267C>T | CA389037853 | MHRT,MYH7 | c.4690G>A (p.Glu1564Lys) n.528C>T | |
14 | g.23416268C>A | CA485766436 | MHRT,MYH7 | c.4689G>T (p.Leu1563=) n.529C>A | |
14 | g.23416268C= | CA2123465965 | MHRT,MYH7 | c.4689G= (p.Leu1563=) n.529C= | |
14 | g.23416268C>G | CA485766435 | MHRT,MYH7 | c.4689G>C (p.Leu1563=) n.529C>G | ClinVar dbSNP |
14 | g.23416268C>T | CA043646 | MHRT,MYH7 | c.4689G>A (p.Leu1563=) n.529C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23416269A>C | CA389037857 | MHRT,MYH7 | c.4688T>G (p.Leu1563Arg) n.530A>C | |
14 | g.23416269A>G | CA389037855 | MHRT,MYH7 | c.4688T>C (p.Leu1563Pro) n.530A>G | |
14 | g.23416269A>T | CA389037856 | MHRT,MYH7 | c.4688T>A (p.Leu1563Gln) n.530A>T | |
14 | g.23416270G>A | CA485766439 | MHRT,MYH7 | c.4687C>T (p.Leu1563=) n.531G>A | |
14 | g.23416270G>C | CA015233 | MHRT,MYH7 | c.4687C>G (p.Leu1563Val) n.531G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23416270G= | CA2123465976 | MHRT,MYH7 | c.4687C= (p.Leu1563=) n.531G= | |
14 | g.23416270G>T | CA389037858 | MHRT,MYH7 | c.4687C>A (p.Leu1563Met) n.531G>T | |
14 | g.23416271C>A | CA389037859 | MHRT,MYH7 | c.4686G>T (p.Gln1562His) n.532C>A | |
14 | g.23416271C>G | CA389037860 | MHRT,MYH7 | c.4686G>C (p.Gln1562His) n.532C>G | |
14 | g.23416271C>T | CA485766444 | MHRT,MYH7 | c.4686G>A (p.Gln1562=) n.532C>T | ClinVar dbSNP |
14 | g.23416271_23416287delinsCTGGGCCCGGAGGATCT | CA2123465986 | MHRT,MYH7 | c.4670_4686delinsAGATCCTCCGGGCCCAG (p.Lys1557=) n.532_548delinsCTGGGCCCGGAGGATCT | |
14 | g.23416272T>A | CA389037861 | MHRT,MYH7 | c.4685A>T (p.Gln1562Leu) n.533T>A | |
14 | g.23416272T>C | CA389037862 | MHRT,MYH7 | c.4685A>G (p.Gln1562Arg) n.533T>C | |
14 | g.23416272T>G | CA389037863 | MHRT,MYH7 | c.4685A>C (p.Gln1562Pro) n.533T>G | |
14 | g.23416274_23416289del | CA043479 | MHRT,MYH7 | c.4670_4685del (p.Lys1557SerfsTer?) n.535_550del | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23416273G>A | CA389037866 | MHRT,MYH7 | c.4684C>T (p.Gln1562Ter) n.534G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.23416273G>C | CA389037865 | MHRT,MYH7 | c.4684C>G (p.Gln1562Glu) n.534G>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.23416273G= | CA2123465994 | MHRT,MYH7 | c.4684C= (p.Gln1562=) n.534G= | |
14 | g.23416273G>T | CA389037864 | MHRT,MYH7 | c.4684C>A (p.Gln1562Lys) n.534G>T | gnomAD v4 |
14 | g.23416274G>A | CA485766450 | MHRT,MYH7 | c.4683C>T (p.Ala1561=) n.535G>A | gnomAD v4 |
14 | g.23416274G>C | CA485766451 | MHRT,MYH7 | c.4683C>G (p.Ala1561=) n.535G>C | |
14 | g.23416274G= | CA2123465998 | MHRT,MYH7 | c.4683C= (p.Ala1561=) n.535G= | |
14 | g.23416274G>T | CA043625 | MHRT,MYH7 | c.4683C>A (p.Ala1561=) n.535G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23416275G>A | CA389037867 | MHRT,MYH7 | c.4682C>T (p.Ala1561Val) n.536G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.23416275G>C | CA389037868 | MHRT,MYH7 | c.4682C>G (p.Ala1561Gly) n.536G>C | |
14 | g.23416275G= | CA2123466004 | MHRT,MYH7 | c.4682C= (p.Ala1561=) n.536G= | |
14 | g.23416275G>T | CA389037869 | MHRT,MYH7 | c.4682C>A (p.Ala1561Asp) n.536G>T | gnomAD v4 |
14 | g.23416275_23416276delinsGC | CA2123466007 | MHRT,MYH7 | c.4681_4682delinsGC (p.Ala1561=) n.536_537delinsGC | |
14 | g.23416276C>A | CA389037870 | MHRT,MYH7 | c.4681G>T (p.Ala1561Ser) n.537C>A | ClinVar gnomAD v4 |
14 | g.23416276C= | CA2123466015 | MHRT,MYH7 | c.4681G= (p.Ala1561=) n.537C= | |
14 | g.23416276C>G | CA16619846 | MHRT,MYH7 | c.4681G>C (p.Ala1561Pro) n.537C>G | ClinVar dbSNP |
14 | g.23416276C>T | CA389037871 | MHRT,MYH7 | c.4681G>A (p.Ala1561Thr) n.537C>T | |
14 | g.23416278del | CA613317654 | MHRT,MYH7 | c.4681del (p.Ala1561ProfsTer?) n.539del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23416277C>A | CA485766457 | MHRT,MYH7 | c.4680G>T (p.Arg1560=) n.538C>A | |
14 | g.23416277C= | CA2123466023 | MHRT,MYH7 | c.4680G= (p.Arg1560=) n.538C= | |
14 | g.23416277C>G | CA485766458 | MHRT,MYH7 | c.4680G>C (p.Arg1560=) n.538C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
14 | g.23416277C>T | CA043587 | MHRT,MYH7 | c.4680G>A (p.Arg1560=) n.538C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23416278C>A | CA389037872 | MHRT,MYH7 | c.4679G>T (p.Arg1560Leu) n.539C>A | |
14 | g.23416278C= | CA2123466037 | MHRT,MYH7 | c.4679G= (p.Arg1560=) n.539C= | |
14 | g.23416278C>G | CA389037873 | MHRT,MYH7 | c.4679G>C (p.Arg1560Pro) n.539C>G | ClinVar dbSNP |
14 | g.23416278C>T | CA015224 | MHRT,MYH7 | c.4679G>A (p.Arg1560Gln) n.539C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23416279G>A | CA043564 | MHRT,MYH7 | c.4678C>T (p.Arg1560Trp) n.540G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
14 | g.23416279G>C | CA389037874 | MHRT,MYH7 | c.4678C>G (p.Arg1560Gly) n.540G>C | |
14 | g.23416279G= | CA2123466049 | MHRT,MYH7 | c.4678C= (p.Arg1560=) n.540G= | |
14 | g.23416279G>T | CA043550 | MHRT,MYH7 | c.4678C>A (p.Arg1560=) n.540G>T | dbSNP ExAC gnomAD v2 |
14 | g.23416280G>A | CA043534 | MHRT,MYH7 | c.4677C>T (p.Leu1559=) n.541G>A | dbSNP ExAC gnomAD v2 |
14 | g.23416280G>C | CA485766462 | MHRT,MYH7 | c.4677C>G (p.Leu1559=) n.541G>C | gnomAD v4 |
14 | g.23416280G= | CA2123466057 | MHRT,MYH7 | c.4677C= (p.Leu1559=) n.541G= | |
14 | g.23416280G>T | CA043517 | MHRT,MYH7 | c.4677C>A (p.Leu1559=) n.541G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23416281A>C | CA389037875 | MHRT,MYH7 | c.4676T>G (p.Leu1559Arg) n.542A>C | |
14 | g.23416281A>G | CA389037876 | MHRT,MYH7 | c.4676T>C (p.Leu1559Pro) n.542A>G | |
14 | g.23416281A>T | CA389037877 | MHRT,MYH7 | c.4676T>A (p.Leu1559His) n.542A>T | |
14 | g.23416282G>A | CA389037878 | MHRT,MYH7 | c.4675C>T (p.Leu1559Phe) n.543G>A | |
14 | g.23416282G>C | CA389037879 | MHRT,MYH7 | c.4675C>G (p.Leu1559Val) n.543G>C | |
14 | g.23416282G>T | CA389037880 | MHRT,MYH7 | c.4675C>A (p.Leu1559Ile) n.543G>T | |
14 | g.23416283G>A | CA485766464 | MHRT,MYH7 | c.4674C>T (p.Ile1558=) n.544G>A | ClinVar dbSNP COSMIC |
14 | g.23416283G>C | CA389037881 | MHRT,MYH7 | c.4674C>G (p.Ile1558Met) n.544G>C | gnomAD v4 |
14 | g.23416283G>T | CA485766465 | MHRT,MYH7 | c.4674C>A (p.Ile1558=) n.544G>T | |
14 | g.23416284A= | CA2123466069 | MHRT,MYH7 | c.4673T= (p.Ile1558=) n.545A= | |
14 | g.23416284A>C | CA257810745 | MHRT,MYH7 | c.4673T>G (p.Ile1558Ser) n.545A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.23416284A>G | CA389037882 | MHRT,MYH7 | c.4673T>C (p.Ile1558Thr) n.545A>G | |
14 | g.23416284A>T | CA389037883 | MHRT,MYH7 | c.4673T>A (p.Ile1558Asn) n.545A>T | |
14 | g.23416285T>A | CA043503 | MHRT,MYH7 | c.4672A>T (p.Ile1558Phe) n.546T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23416285T>C | CA389037884 | MHRT,MYH7 | c.4672A>G (p.Ile1558Val) n.546T>C | |
14 | g.23416285T>G | CA389037885 | MHRT,MYH7 | c.4672A>C (p.Ile1558Leu) n.546T>G | |
14 | g.23416285T= | CA2123466077 | MHRT,MYH7 | c.4672A= (p.Ile1558=) n.546T= | |
14 | g.23416286C>A | CA389037886 | MHRT,MYH7 | c.4671G>T (p.Lys1557Asn) n.547C>A | ClinVar COSMIC |
14 | g.23416286C= | CA2123466087 | MHRT,MYH7 | c.4671G= (p.Lys1557=) n.547C= | |
14 | g.23416286C>G | CA389037887 | MHRT,MYH7 | c.4671G>C (p.Lys1557Asn) n.547C>G | |
14 | g.23416286C>T | CA015216 | MHRT,MYH7 | c.4671G>A (p.Lys1557=) n.547C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23416287T>A | CA389037888 | MHRT,MYH7 | c.4670A>T (p.Lys1557Met) n.548T>A | |
14 | g.23416287T>C | CA389037889 | MHRT,MYH7 | c.4670A>G (p.Lys1557Arg) n.548T>C | ClinVar dbSNP |
14 | g.23416287T>G | CA389037890 | MHRT,MYH7 | c.4670A>C (p.Lys1557Thr) n.548T>G | |
14 | g.23416287T= | CA2123466096 | MHRT,MYH7 | c.4670A= (p.Lys1557=) n.548T= | |
14 | g.23416288T>A | CA389037891 | MHRT,MYH7 | c.4669A>T (p.Lys1557Ter) n.549T>A | |
14 | g.23416288T>C | CA389037892 | MHRT,MYH7 | c.4669A>G (p.Lys1557Glu) n.549T>C | |
14 | g.23416288T>G | CA389037893 | MHRT,MYH7 | c.4669A>C (p.Lys1557Gln) n.549T>G | |
14 | g.23416289G>A | CA485766468 | MHRT,MYH7 | c.4668C>T (p.Gly1556=) n.550G>A | |
14 | g.23416289G>C | CA485766471 | MHRT,MYH7 | c.4668C>G (p.Gly1556=) n.550G>C | |
14 | g.23416289G= | CA2123466101 | MHRT,MYH7 | c.4668C= (p.Gly1556=) n.550G= | |
14 | g.23416289G>T | CA043470 | MHRT,MYH7 | c.4668C>A (p.Gly1556=) n.550G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23416290C>A | CA389037894 | MHRT,MYH7 | c.4667G>T (p.Gly1556Val) n.551C>A | |
14 | g.23416290C= | CA2123466109 | MHRT,MYH7 | c.4667G= (p.Gly1556=) n.551C= | |
14 | g.23416290C>G | CA389037895 | MHRT,MYH7 | c.4667G>C (p.Gly1556Ala) n.551C>G | |
14 | g.23416290C>T | CA389037896 | MHRT,MYH7 | c.4667G>A (p.Gly1556Asp) n.551C>T | ClinVar dbSNP |
14 | g.23416291C>A | CA389037898 | MHRT,MYH7 | c.4666G>T (p.Gly1556Cys) n.552C>A | dbSNP |
14 | g.23416291C= | CA2123466118 | MHRT,MYH7 | c.4666G= (p.Gly1556=) n.552C= | |
14 | g.23416291C>G | CA389037899 | MHRT,MYH7 | c.4666G>C (p.Gly1556Arg) n.552C>G | |
14 | g.23416291C>T | CA389037897 | MHRT,MYH7 | c.4666G>A (p.Gly1556Ser) n.552C>T | |
14 | g.23416292C>A | CA389037901 | MHRT,MYH7 | c.4665G>T (p.Glu1555Asp) n.553C>A | |
14 | g.23416292C= | CA2123466125 | MHRT,MYH7 | c.4665G= (p.Glu1555=) n.553C= | |
14 | g.23416292C>G | CA389037900 | MHRT,MYH7 | c.4665G>C (p.Glu1555Asp) n.553C>G | |
14 | g.23416292C>T | CA485766473 | MHRT,MYH7 | c.4665G>A (p.Glu1555=) n.553C>T | ClinVar dbSNP |
14 | g.23416293T>A | CA389037902 | MHRT,MYH7 | c.4664A>T (p.Glu1555Val) n.554T>A | |
14 | g.23416293T>C | CA015211 | MHRT,MYH7 | c.4664A>G (p.Glu1555Gly) n.554T>C | ClinVar dbSNP gnomAD v4 |
14 | g.23416293T>G | CA389037903 | MHRT,MYH7 | c.4664A>C (p.Glu1555Ala) n.554T>G | |
14 | g.23416293T= | CA2123466131 | MHRT,MYH7 | c.4664A= (p.Glu1555=) n.554T= | |
14 | g.23416294C>A | CA389037904 | MHRT,MYH7 | c.4663G>T (p.Glu1555Ter) n.555C>A | |
14 | g.23416294C= | CA2123466138 | MHRT,MYH7 | c.4663G= (p.Glu1555=) n.555C= | |
14 | g.23416294C>G | CA015206 | MHRT,MYH7 | c.4663G>C (p.Glu1555Gln) n.555C>G | ClinVar dbSNP |
14 | g.23416294C>T | CA389037905 | MHRT,MYH7 | c.4663G>A (p.Glu1555Lys) n.555C>T | ClinVar dbSNP COSMIC |
14 | g.23416295C>A | CA389037906 | MHRT,MYH7 | c.4662G>T (p.Glu1554Asp) n.556C>A | |
14 | g.23416295C= | CA2123466147 | MHRT,MYH7 | c.4662G= (p.Glu1554=) n.556C= | |
14 | g.23416295C>G | CA389037907 | MHRT,MYH7 | c.4662G>C (p.Glu1554Asp) n.556C>G | |
14 | g.23416295C>T | CA043454 | MHRT,MYH7 | c.4662G>A (p.Glu1554=) n.556C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23416296T>A | CA389037908 | MHRT,MYH7 | c.4661A>T (p.Glu1554Val) n.557T>A | |
14 | g.23416296T>C | CA389037909 | MHRT,MYH7 | c.4661A>G (p.Glu1554Gly) n.557T>C | |
14 | g.23416296T>G | CA389037910 | MHRT,MYH7 | c.4661A>C (p.Glu1554Ala) n.557T>G | |
14 | g.23416297C>A | CA389037911 | MHRT,MYH7 | c.4660G>T (p.Glu1554Ter) n.558C>A | |
14 | g.23416297C= | CA2123466153 | MHRT,MYH7 | c.4660G= (p.Glu1554=) n.558C= | |
14 | g.23416297C>G | CA043434 | MHRT,MYH7 | c.4660G>C (p.Glu1554Gln) n.558C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23416297C>T | CA389037912 | MHRT,MYH7 | c.4660G>A (p.Glu1554Lys) n.558C>T | ClinVar dbSNP gnomAD v4 |
14 | g.23416298G>A | CA043411 | MHRT,MYH7 | c.4659C>T (p.His1553=) n.558+1G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23416298G>C | CA389037913 | MHRT,MYH7 | c.4659C>G (p.His1553Gln) n.558+1G>C | ClinVar |
14 | g.23416298G= | CA2123466161 | MHRT,MYH7 | c.4659C= (p.His1553=) n.558+1G= | |
14 | g.23416298G>T | CA389037914 | MHRT,MYH7 | c.4659C>A (p.His1553Gln) n.558+1G>T | |
14 | g.23416299T>A | CA389037915 | MHRT,MYH7 | c.4658A>T (p.His1553Leu) n.558+2T>A | |
14 | g.23416299T>C | CA389037916 | MHRT,MYH7 | c.4658A>G (p.His1553Arg) n.558+2T>C | |
14 | g.23416299T>G | CA389037917 | MHRT,MYH7 | c.4658A>C (p.His1553Pro) n.558+2T>G | |
14 | g.23416300G>A | CA389037918 | MHRT,MYH7 | c.4657C>T (p.His1553Tyr) n.558+3G>A | |
14 | g.23416300G>C | CA389037919 | MHRT,MYH7 | c.4657C>G (p.His1553Asp) n.558+3G>C | |
14 | g.23416300G>T | CA389037920 | MHRT,MYH7 | c.4657C>A (p.His1553Asn) n.558+3G>T | |
14 | g.23416301C>A | CA043403 | MHRT,MYH7 | c.4656G>T (p.Glu1552Asp) n.558+4C>A | ClinVar dbSNP ExAC gnomAD v2 |
14 | g.23416301C= | CA2123466175 | MHRT,MYH7 | c.4656G= (p.Glu1552=) n.558+4C= | |
14 | g.23416301C>G | CA389037921 | MHRT,MYH7 | c.4656G>C (p.Glu1552Asp) n.558+4C>G | |
14 | g.23416301C>T | CA485766478 | MHRT,MYH7 | c.4656G>A (p.Glu1552=) n.558+4C>T | dbSNP |
14 | g.23416302T>A | CA389037923 | MHRT,MYH7 | c.4655A>T (p.Glu1552Val) n.558+5T>A | |
14 | g.23416302T>C | CA389037924 | MHRT,MYH7 | c.4655A>G (p.Glu1552Gly) n.558+5T>C | |
14 | g.23416302T>G | CA389037922 | MHRT,MYH7 | c.4655A>C (p.Glu1552Ala) n.558+5T>G | |
14 | g.23416302_23416304delinsAGGAGG | CA2580087886 | MHRT,MYH7 | c.4653_4655delinsCCTCCT (p.Glu1552delinsLeuLeu) n.558+5_558+7delinsAGGAGG | ClinVar |
14 | g.23416303C>A | CA389037925 | MHRT,MYH7 | c.4654G>T (p.Glu1552Ter) n.558+6C>A | |
14 | g.23416303C>G | CA389037926 | MHRT,MYH7 | c.4654G>C (p.Glu1552Gln) n.558+6C>G | |
14 | g.23416303C>T | CA389037927 | MHRT,MYH7 | c.4654G>A (p.Glu1552Lys) n.558+6C>T | |
14 | g.23416304C>A | CA485766479 | MHRT,MYH7 | c.4653G>T (p.Leu1551=) n.558+7C>A | |
14 | g.23416304C>G | CA485766480 | MHRT,MYH7 | c.4653G>C (p.Leu1551=) n.558+7C>G | ClinVar |
14 | g.23416304C>T | CA485766481 | MHRT,MYH7 | c.4653G>A (p.Leu1551=) n.558+7C>T | |
14 | g.23416305A>C | CA389037928 | MHRT,MYH7 | c.4652T>G (p.Leu1551Arg) n.558+8A>C | |
14 | g.23416305A>G | CA389037929 | MHRT,MYH7 | c.4652T>C (p.Leu1551Pro) n.558+8A>G | ClinVar |
14 | g.23416305A>T | CA389037930 | MHRT,MYH7 | c.4652T>A (p.Leu1551Gln) n.558+8A>T | |
14 | g.23416306G>A | CA485766482 | MHRT,MYH7 | c.4651C>T (p.Leu1551=) n.558+9G>A | ClinVar dbSNP |
14 | g.23416306G>C | CA389037932 | MHRT,MYH7 | c.4651C>G (p.Leu1551Val) n.558+9G>C | |
14 | g.23416306G>T | CA389037931 | MHRT,MYH7 | c.4651C>A (p.Leu1551Met) n.558+9G>T | |
14 | g.23416307G>A | CA257810773 | MHRT,MYH7 | c.4650C>T (p.Ser1550=) n.558+10G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23416307G>C | CA485766483 | MHRT,MYH7 | c.4650C>G (p.Ser1550=) n.558+10G>C | |
14 | g.23416307G= | CA2123466183 | MHRT,MYH7 | c.4650C= (p.Ser1550=) n.558+10G= | |
14 | g.23416307G>T | CA485766484 | MHRT,MYH7 | c.4650C>A (p.Ser1550=) n.558+10G>T | |
14 | g.23416308G>A | CA015196 | MHRT,MYH7 | c.4649C>T (p.Ser1550Phe) n.558+11G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23416308G>C | CA389037933 | MHRT,MYH7 | c.4649C>G (p.Ser1550Cys) n.558+11G>C | |
14 | g.23416308G= | CA2123466193 | MHRT,MYH7 | c.4649C= (p.Ser1550=) n.558+11G= | |
14 | g.23416308G>T | CA389037934 | MHRT,MYH7 | c.4649C>A (p.Ser1550Tyr) n.558+11G>T | |
14 | g.23416309A= | CA2123466204 | MHRT,MYH7 | c.4648T= (p.Ser1550=) n.558+12A= | |
14 | g.23416309A>C | CA389037935 | MHRT,MYH7 | c.4648T>G (p.Ser1550Ala) n.558+12A>C | |
14 | g.23416309A>G | CA389037936 | MHRT,MYH7 | c.4648T>C (p.Ser1550Pro) n.558+12A>G | ClinVar dbSNP |
14 | g.23416309A>T | CA389037937 | MHRT,MYH7 | c.4648T>A (p.Ser1550Thr) n.558+12A>T | |
14 | g.23416310G>A | CA043394 | MHRT,MYH7 | c.4647C>T (p.Ala1549=) n.558+13G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23416310G>C | CA485766489 | MHRT,MYH7 | c.4647C>G (p.Ala1549=) n.558+13G>C | |
14 | g.23416310G= | CA2123466214 | MHRT,MYH7 | c.4647C= (p.Ala1549=) n.558+13G= | |
14 | g.23416310G>T | CA485766488 | MHRT,MYH7 | c.4647C>A (p.Ala1549=) n.558+13G>T | |
14 | g.23416311G>A | CA389037938 | MHRT,MYH7 | c.4646C>T (p.Ala1549Val) n.558+14G>A | |
14 | g.23416311G>C | CA389037940 | MHRT,MYH7 | c.4646C>G (p.Ala1549Gly) n.558+14G>C | ClinVar dbSNP |
14 | g.23416311G= | CA2123466222 | MHRT,MYH7 | c.4646C= (p.Ala1549=) n.558+14G= | |
14 | g.23416311G>T | CA389037939 | MHRT,MYH7 | c.4646C>A (p.Ala1549Asp) n.558+14G>T | ClinVar gnomAD v4 |
14 | g.23416312C>A | CA389037941 | MHRT,MYH7 | c.4645G>T (p.Ala1549Ser) n.558+15C>A | |
14 | g.23416312C>G | CA389037942 | MHRT,MYH7 | c.4645G>C (p.Ala1549Pro) n.558+15C>G | |
14 | g.23416312C>T | CA389037943 | MHRT,MYH7 | c.4645G>A (p.Ala1549Thr) n.558+15C>T | |
14 | g.23416313C>A | CA389037944 | MHRT,MYH7 | c.4645-1G>T (n.4645-1G>T) n.558+16C>A | |
14 | g.23416313C>G | CA389037945 | MHRT,MYH7 | c.4645-1G>C (n.4645-1G>C) n.558+16C>G | ClinVar |
14 | g.23416313C>T | CA389037946 | MHRT,MYH7 | c.4645-1G>A (n.4645-1G>A) n.558+16C>T | ClinVar |
14 | g.23416314T>A | CA389037947 | MHRT,MYH7 | c.4645-2A>T (n.4645-2A>T) n.558+17T>A | ClinVar dbSNP |
14 | g.23416314T>C | CA389037948 | MHRT,MYH7 | c.4645-2A>G (n.4645-2A>G) n.558+17T>C | gnomAD v4 |
14 | g.23416314T>G | CA389037949 | MHRT,MYH7 | c.4645-2A>C (n.4645-2A>C) n.558+17T>G | |
14 | g.23416314T= | CA2123466234 | MHRT,MYH7 | c.4645-2A= (n.4645-2A=) n.558+17T= | |
14 | g.23416314_23416315insC | CA2624234785 | MHRT,MYH7 | c.4645-3_4645-2insG (n.4645-3_4645-2insG) n.558+17_558+18insC | gnomAD v4 |
14 | g.23416314_23416315insCGGCCTCCTCCAGGGCTGACTGCAGCTCCATCTTCTCGGCCTCCAGCTGCTTTC | CA613317655 | MHRT,MYH7 | c.4645-3_4645-2insGAAAGCAGCTGGAGGCCGAGAAGATGGAGCTGCAGTCAGCCCTGGAGGAGGCCG (n.4645-3_4645-2insGAAAGCAGCTGGAGGCCGAGAAGATGGAGCTGCAGTCAGCCCTGGAGGAGGCCG) n.558+17_558+18insCGGCCTCCTCCAGGGCTGACTGCAGCTCCATCTTCTCGGCCTCCAGCTGCTTTC | dbSNP gnomAD v2 |
14 | g.23416315G>C | CA257810783 | MHRT,MYH7 | c.4645-3C>G (n.4645-3C>G) n.558+18G>C | dbSNP |
14 | g.23416315G= | CA2123466249 | MHRT,MYH7 | c.4645-3C= (n.4645-3C=) n.558+18G= | |
14 | g.23416317del | CA2499222574 | MHRT,MYH7 | c.4645-3del (n.4645-3del) n.558+20del | ClinVar dbSNP |
14 | g.23416316G>A | CA2123466254 | MHRT,MYH7 | c.4645-4C>T (n.4645-4C>T) n.558+19G>A | dbSNP gnomAD v4 |
14 | g.23416316G= | CA2123466255 | MHRT,MYH7 | c.4645-4C= (n.4645-4C=) n.558+19G= | |
14 | g.23416316_23416317insCCTCCTCCAGGGCT | CA2624234791 | MHRT,MYH7 | c.4645-5_4645-4insAGCCCTGGAGGAGG (n.4645-5_4645-4insAGCCCTGGAGGAGG) n.558+19_558+20insCCTCCTCCAGGGCT | gnomAD v4 |
14 | g.23416317G>A | CA961068932 | MHRT,MYH7 | c.4645-5C>T (n.4645-5C>T) n.558+20G>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.23416317G= | CA2123466258 | MHRT,MYH7 | c.4645-5C= (n.4645-5C=) n.558+20G= | |
14 | g.23416317_23416318del | CA2575486692 | MHRT,MYH7 | c.4645-6_4645-5del (n.4645-6_4645-5del) n.558+20_558+21del | |
14 | g.23416318_23416319insCTGC | CA2624234796 | MHRT,MYH7 | c.4645-7_4645-6insGCAG (n.4645-7_4645-6insGCAG) n.558+21_558+22insCTGC | gnomAD v4 |
14 | g.23416319A= | CA2123466271 | MHRT,MYH7 | c.4645-7T= (n.4645-7T=) n.558+22A= | |
14 | g.23416319A>C | CA2800863162 | MHRT,MYH7 | c.4645-7T>G (n.4645-7T>G) n.558+22A>C | |
14 | g.23416319A>G | CA257810797 | MHRT,MYH7 | c.4645-7T>C (n.4645-7T>C) n.558+22A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.23416319A>T | CA2624234798 | MHRT,MYH7 | c.4645-7T>A (n.4645-7T>A) n.558+22A>T | gnomAD v4 |
14 | g.23416319_23416320delinsAG | CA2123466270 | MHRT,MYH7 | c.4645-8_4645-7delinsCT (n.4645-8_4645-7delinsCT) n.558+22_558+23delinsAG | |
14 | g.23416320G>A | CA2624234833 | MHRT,MYH7 | c.4645-8C>T (n.4645-8C>T) n.558+23G>A | gnomAD v4 |
14 | g.23416323del | CA043376 | MHRT,MYH7 | c.4645-8del (n.4645-8del) n.558+26del | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23416321G>T | CA2624234836 | MHRT,MYH7 | c.4645-9C>A (n.4645-9C>A) n.558+24G>T | gnomAD v4 |
14 | g.23416322G>A | CA2123466276 | MHRT,MYH7 | c.4645-10C>T (n.4645-10C>T) n.558+25G>A | ClinVar dbSNP gnomAD v4 |
14 | g.23416322G= | CA2123466279 | MHRT,MYH7 | c.4645-10C= (n.4645-10C=) n.558+25G= | |
14 | g.23416322G>T | CA2624234868 | MHRT,MYH7 | c.4645-10C>A (n.4645-10C>A) n.558+25G>T | ClinVar gnomAD v4 |
14 | g.23416324T>A | CA2123466282 | MHRT,MYH7 | c.4645-12A>T (n.4645-12A>T) n.558+27T>A | dbSNP gnomAD v4 |
14 | g.23416324T= | CA2123466283 | MHRT,MYH7 | c.4645-12A= (n.4645-12A=) n.558+27T= | |
14 | g.23416325T>G | CA961068940 | MHRT,MYH7 | c.4645-13A>C (n.4645-13A>C) n.558+28T>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.23416325T= | CA2123466284 | MHRT,MYH7 | c.4645-13A= (n.4645-13A=) n.558+28T= | |
14 | g.23416326G>A | CA613317657 | MHRT,MYH7 | c.4645-14C>T (n.4645-14C>T) n.558+29G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23416326G= | CA2123466286 | MHRT,MYH7 | c.4645-14C= (n.4645-14C=) n.558+29G= | |
14 | g.23416330dup | CA613317656 | MHRT,MYH7 | c.4645-14dup (n.4645-14dup) n.558+33dup | dbSNP gnomAD v2 gnomAD v4 |
14 | g.23416330del | CA2624234888 | MHRT,MYH7 | c.4645-14del (n.4645-14del) n.558+33del | gnomAD v4 |
14 | g.23416327G>A | CA043228 | MHRT,MYH7 | c.4645-15C>T (n.4645-15C>T) n.558+30G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23416327G>C | CA2123466298 | MHRT,MYH7 | c.4645-15C>G (n.4645-15C>G) n.558+30G>C | ClinVar dbSNP gnomAD v4 |
14 | g.23416327G= | CA2123466292 | MHRT,MYH7 | c.4645-15C= (n.4645-15C=) n.558+30G= | |
14 | g.23416327G>T | CA613317658 | MHRT,MYH7 | c.4645-15C>A (n.4645-15C>A) n.558+30G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23416328G>A | CA043243 | MHRT,MYH7 | c.4645-16C>T (n.4645-16C>T) n.558+31G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23416328G= | CA2123466303 | MHRT,MYH7 | c.4645-16C= (n.4645-16C=) n.558+31G= | |
14 | g.23416330_23416342del | CA2624234907 | MHRT,MYH7 | c.4645-28_4645-16del (n.4645-28_4645-16del) n.558+33_558+45del | gnomAD v4 |
14 | g.23416329G>A | CA658798177 | MHRT,MYH7 | c.4645-17C>T (n.4645-17C>T) n.558+32G>A | ClinVar dbSNP |
14 | g.23416329G>C | CA2624234915 | MHRT,MYH7 | c.4645-17C>G (n.4645-17C>G) n.558+32G>C | gnomAD v4 |
14 | g.23416329G= | CA2123466311 | MHRT,MYH7 | c.4645-17C= (n.4645-17C=) n.558+32G= | |
14 | g.23416329G>T | CA2624234916 | MHRT,MYH7 | c.4645-17C>A (n.4645-17C>A) n.558+32G>T | gnomAD v4 |