Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23432656T>A | CA389052721 | MYH7 | c.485A>T (p.Tyr162Phe) n.591A>T | |
14 | g.23432656T>C | CA16042917 | MYH7 | c.485A>G (p.Tyr162Cys) n.591A>G | ClinVar dbSNP |
14 | g.23432656T>G | CA389052722 | MYH7 | c.485A>C (p.Tyr162Ser) n.591A>C | |
14 | g.23432656T= | CA2123454008 | MYH7 | c.485A= (p.Tyr162=) n.591A= | |
14 | g.23432657A= | CA2123454016 | MYH7 | c.484T= (p.Tyr162=) n.590T= | |
14 | g.23432657A>C | CA389052724 | MYH7 | c.484T>G (p.Tyr162Asp) n.590T>G | ClinVar dbSNP |
14 | g.23432657A>G | CA389052725 | MYH7 | c.484T>C (p.Tyr162His) n.590T>C | ClinVar gnomAD v4 |
14 | g.23432657A>T | CA389052723 | MYH7 | c.484T>A (p.Tyr162Asn) n.590T>A | |
14 | g.23432658G>A | CA485626409 | MYH7 | c.483C>T (p.Ala161=) n.589C>T | ClinVar dbSNP |
14 | g.23432658G>C | CA485626410 | MYH7 | c.483C>G (p.Ala161=) n.589C>G | |
14 | g.23432658G>T | CA485626411 | MYH7 | c.483C>A (p.Ala161=) n.589C>A | |
14 | g.23432659G>A | CA389052726 | MYH7 | c.482C>T (p.Ala161Val) n.588C>T | ClinVar dbSNP |
14 | g.23432659G>C | CA389052728 | MYH7 | c.482C>G (p.Ala161Gly) n.588C>G | |
14 | g.23432659G= | CA2123454025 | MYH7 | c.482C= (p.Ala161=) n.588C= | |
14 | g.23432659G>T | CA389052727 | MYH7 | c.482C>A (p.Ala161Asp) n.588C>A | |
14 | g.23432660C>A | CA389052729 | MYH7 | c.481G>T (p.Ala161Ser) n.587G>T | |
14 | g.23432660C= | CA2123454033 | MYH7 | c.481G= (p.Ala161=) n.587G= | |
14 | g.23432660C>G | CA389052730 | MYH7 | c.481G>C (p.Ala161Pro) n.587G>C | |
14 | g.23432660C>T | CA043930 | MYH7 | c.481G>A (p.Ala161Thr) n.587G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.23432661G>A | CA015335 | MYH7 | c.480C>T (p.Asn160=) n.586C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.23432661G>C | CA389052731 | MYH7 | c.480C>G (p.Asn160Lys) n.586C>G | |
14 | g.23432661G= | CA2123454038 | MYH7 | c.480C= (p.Asn160=) n.586C= | |
14 | g.23432661G>T | CA389052732 | MYH7 | c.480C>A (p.Asn160Lys) n.586C>A | |
14 | g.23432662T>A | CA389052733 | MYH7 | c.479A>T (p.Asn160Ile) n.585A>T | |
14 | g.23432662T>C | CA389052734 | MYH7 | c.479A>G (p.Asn160Ser) n.585A>G | |
14 | g.23432662T>G | CA389052735 | MYH7 | c.479A>C (p.Asn160Thr) n.585A>C | |
14 | g.23432663T>A | CA389052736 | MYH7 | c.478A>T (p.Asn160Tyr) n.584A>T | |
14 | g.23432663T>C | CA389052737 | MYH7 | c.478A>G (p.Asn160Asp) n.584A>G | |
14 | g.23432663T>G | CA389052738 | MYH7 | c.478A>C (p.Asn160His) n.584A>C | |
14 | g.23432664G>A | CA485626415 | MYH7 | c.477C>T (p.Asp159=) n.583C>T | |
14 | g.23432664G>C | CA389052739 | MYH7 | c.477C>G (p.Asp159Glu) n.583C>G | |
14 | g.23432664G>T | CA389052740 | MYH7 | c.477C>A (p.Asp159Glu) n.583C>A | |
14 | g.23432665T>A | CA389052741 | MYH7 | c.476A>T (p.Asp159Val) n.582A>T | |
14 | g.23432665T>C | CA389052742 | MYH7 | c.476A>G (p.Asp159Gly) n.582A>G | |
14 | g.23432665T>G | CA389052743 | MYH7 | c.476A>C (p.Asp159Ala) n.582A>C | |
14 | g.23432666C>A | CA389052745 | MYH7 | c.475G>T (p.Asp159Tyr) n.581G>T | |
14 | g.23432666C= | CA2123454044 | MYH7 | c.475G= (p.Asp159=) n.581G= | |
14 | g.23432666C>G | CA015284 | MYH7 | c.475G>C (p.Asp159His) n.581G>C | ClinVar dbSNP |
14 | g.23432666C>T | CA389052744 | MYH7 | c.475G>A (p.Asp159Asn) n.581G>A | ClinVar dbSNP |
14 | g.23432667G>A | CA015274 | MYH7 | c.474C>T (p.Ser158=) n.580C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.23432667G>C | CA043748 | MYH7 | c.474C>G (p.Ser158=) n.580C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23432667G= | CA2123454054 | MYH7 | c.474C= (p.Ser158=) n.580C= | |
14 | g.23432667G>T | CA485626416 | MYH7 | c.474C>A (p.Ser158=) n.580C>A | |
14 | g.23432668del | CA2580088033 | MYH7 | c.474del (p.Asp159ThrfsTer8) n.580del | ClinVar |
14 | g.23432668G>A | CA389052746 | MYH7 | c.473C>T (p.Ser158Phe) n.579C>T | |
14 | g.23432668G>C | CA389052747 | MYH7 | c.473C>G (p.Ser158Cys) n.579C>G | |
14 | g.23432668G>T | CA389052748 | MYH7 | c.473C>A (p.Ser158Tyr) n.579C>A | |
14 | g.23432669A>C | CA389052749 | MYH7 | c.472T>G (p.Ser158Ala) n.578T>G | ClinVar |
14 | g.23432669A>G | CA389052750 | MYH7 | c.472T>C (p.Ser158Pro) n.578T>C | |
14 | g.23432669A>T | CA389052751 | MYH7 | c.472T>A (p.Ser158Thr) n.578T>A |