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 |
|---|---|---|---|---|---|
| 14 | g.23425676_23425679del | CA2575486684 | MYH7 | c.2286+23_2286+26del (n.2286+23_2286+26del) n.2392+23_2392+26del | gnomAD v4 |
| 14 | g.23425678T>C | CA2624230083 | MYH7 | c.2286+17A>G (n.2286+17A>G) n.2392+17A>G | gnomAD v4 |
| 14 | g.23425679A= | CA2123458088 | MYH7 | c.2286+16T= (n.2286+16T=) n.2392+16T= | |
| 14 | g.23425679A>C | CA704293957 | MYH7 | c.2286+16T>G (n.2286+16T>G) n.2392+16T>G | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23425680G>A | CA2123458092 | MYH7 | c.2286+15C>T (n.2286+15C>T) n.2392+15C>T | dbSNP |
| 14 | g.23425680G= | CA2123458090 | MYH7 | c.2286+15C= (n.2286+15C=) n.2392+15C= | |
| 14 | g.23425680G>T | CA612937593 | MYH7 | c.2286+15C>A (n.2286+15C>A) n.2392+15C>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23425682C= | CA2123458095 | MYH7 | c.2286+13G= (n.2286+13G=) n.2392+13G= | |
| 14 | g.23425682C>T | CA961068326 | MYH7 | c.2286+13G>A (n.2286+13G>A) n.2392+13G>A | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23425683T>A | CA2580087999 | MYH7 | c.2286+12A>T (n.2286+12A>T) n.2392+12A>T | ClinVar |
| 14 | g.23425683T>C | CA2800863623 | MYH7 | c.2286+12A>G (n.2286+12A>G) n.2392+12A>G | |
| 14 | g.23425684C>T | CA656016758 | MYH7 | c.2286+11G>A (n.2286+11G>A) n.2392+11G>A | gnomAD v4 COSMIC |
| 14 | g.23425685C= | CA2123458097 | MYH7 | c.2286+10G= (n.2286+10G=) n.2392+10G= | |
| 14 | g.23425685C>T | CA1139663359 | MYH7 | c.2286+10G>A (n.2286+10G>A) n.2392+10G>A | ClinVar dbSNP |
| 14 | g.23425688T>C | CA032011 | MYH7 | c.2286+7A>G (n.2286+7A>G) n.2392+7A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23425688T= | CA2123458104 | MYH7 | c.2286+7A= (n.2286+7A=) n.2392+7A= | |
| 14 | g.23425689C>T | CA2624230100 | MYH7 | c.2286+6G>A (n.2286+6G>A) n.2392+6G>A | gnomAD v4 |
| 14 | g.23425690C= | CA2123458107 | MYH7 | c.2286+5G= (n.2286+5G=) n.2392+5G= | |
| 14 | g.23425690C>G | CA915946999 | MYH7 | c.2286+5G>C (n.2286+5G>C) n.2392+5G>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23425690C>T | CA612937594 | MYH7 | c.2286+5G>A (n.2286+5G>A) n.2392+5G>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23425692C= | CA2123458110 | MYH7 | c.2286+3G= (n.2286+3G=) n.2392+3G= | |
| 14 | g.23425692C>T | CA613317744 | MYH7 | c.2286+3G>A (n.2286+3G>A) n.2392+3G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23425693A>C | CA389048732 | MYH7 | c.2286+2T>G (n.2286+2T>G) n.2392+2T>G | |
| 14 | g.23425693A>G | CA389048734 | MYH7 | c.2286+2T>C (n.2286+2T>C) n.2392+2T>C | |
| 14 | g.23425693A>T | CA389048733 | MYH7 | c.2286+2T>A (n.2286+2T>A) n.2392+2T>A | |
| 14 | g.23425694C>A | CA16619850 | MYH7 | c.2286+1G>T (n.2286+1G>T) n.2392+1G>T | ClinVar dbSNP |
| 14 | g.23425694C= | CA2123458114 | MYH7 | c.2286+1G= (n.2286+1G=) n.2392+1G= | |
| 14 | g.23425694C>G | CA389048735 | MYH7 | c.2286+1G>C (n.2286+1G>C) n.2392+1G>C | |
| 14 | g.23425694C>T | CA389048736 | MYH7 | c.2286+1G>A (n.2286+1G>A) n.2392+1G>A | |
| 14 | g.23425695C>A | CA389048737 | MYH7 | c.2286G>T (p.Lys762Asn) n.2392G>T | |
| 14 | g.23425695C= | CA2123458120 | MYH7 | c.2286G= (p.Lys762=) n.2392G= | |
| 14 | g.23425695C>G | CA389048738 | MYH7 | c.2286G>C (p.Lys762Asn) n.2392G>C | COSMIC |
| 14 | g.23425695C>T | CA257820649 | MYH7 | c.2286G>A (p.Lys762=) n.2392G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23425696T>A | CA389048739 | MYH7 | c.2285A>T (p.Lys762Met) n.2391A>T | |
| 14 | g.23425696T>C | CA012062 | MYH7 | c.2285A>G (p.Lys762Arg) n.2391A>G | ClinVar dbSNP |
| 14 | g.23425696T>G | CA389048740 | MYH7 | c.2285A>C (p.Lys762Thr) n.2391A>C | |
| 14 | g.23425696T= | CA2123458130 | MYH7 | c.2285A= (p.Lys762=) n.2391A= | |
| 14 | g.23425697T>A | CA389048741 | MYH7 | c.2284A>T (p.Lys762Ter) n.2390A>T | |
| 14 | g.23425697T>C | CA389048742 | MYH7 | c.2284A>G (p.Lys762Glu) n.2390A>G | ClinVar |
| 14 | g.23425697T>G | CA389048743 | MYH7 | c.2284A>C (p.Lys762Gln) n.2390A>C | |
| 14 | g.23425698G>A | CA485766853 | MYH7 | c.2283C>T (p.Thr761=) n.2389C>T | |
| 14 | g.23425698G>C | CA485766857 | MYH7 | c.2283C>G (p.Thr761=) n.2389C>G | |
| 14 | g.23425698G= | CA2123458135 | MYH7 | c.2283C= (p.Thr761=) n.2389C= | |
| 14 | g.23425698G>T | CA031886 | MYH7 | c.2283C>A (p.Thr761=) n.2389C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23425699G>A | CA389048746 | MYH7 | c.2282C>T (p.Thr761Ile) n.2388C>T | ClinVar |
| 14 | g.23425699G>C | CA389048745 | MYH7 | c.2282C>G (p.Thr761Ser) n.2388C>G | ClinVar |
| 14 | g.23425699G= | CA2123458140 | MYH7 | c.2282C= (p.Thr761=) n.2388C= | |
| 14 | g.23425699G>T | CA389048744 | MYH7 | c.2282C>A (p.Thr761Asn) n.2388C>A | ClinVar dbSNP |
| 14 | g.23425700T>A | CA389048748 | MYH7 | c.2281A>T (p.Thr761Ser) n.2387A>T | |
| 14 | g.23425700T>C | CA389048747 | MYH7 | c.2281A>G (p.Thr761Ala) n.2387A>G | |
| 14 | g.23425700T>G | CA389048749 | MYH7 | c.2281A>C (p.Thr761Pro) n.2387A>C | |
| 14 | g.23425701G>A | CA485766858 | MYH7 | c.2280C>T (p.His760=) n.2386C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23425701G>C | CA389048750 | MYH7 | c.2280C>G (p.His760Gln) n.2386C>G | |
| 14 | g.23425701G= | CA2123458163 | MYH7 | c.2280C= (p.His760=) n.2386C= | |
| 14 | g.23425701G>T | CA389048751 | MYH7 | c.2280C>A (p.His760Gln) n.2386C>A | |
| 14 | g.23425702T>A | CA389048752 | MYH7 | c.2279A>T (p.His760Leu) n.2385A>T | |
| 14 | g.23425702T>C | CA389048754 | MYH7 | c.2279A>G (p.His760Arg) n.2385A>G | |
| 14 | g.23425702T>G | CA389048753 | MYH7 | c.2279A>C (p.His760Pro) n.2385A>C | |
| 14 | g.23425703G>A | CA389048755 | MYH7 | c.2278C>T (p.His760Tyr) n.2384C>T | gnomAD v4 |
| 14 | g.23425703G>C | CA389048757 | MYH7 | c.2278C>G (p.His760Asp) n.2384C>G | |
| 14 | g.23425703G>T | CA389048756 | MYH7 | c.2278C>A (p.His760Asn) n.2384C>A | |
| 14 | g.23425704G>A | CA485766863 | MYH7 | c.2277C>T (p.Gly759=) n.2383C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23425704G>C | CA485766865 | MYH7 | c.2277C>G (p.Gly759=) n.2383C>G | |
| 14 | g.23425704G= | CA2123458169 | MYH7 | c.2277C= (p.Gly759=) n.2383C= | |
| 14 | g.23425704G>T | CA485766866 | MYH7 | c.2277C>A (p.Gly759=) n.2383C>A | |
| 14 | g.23425705C>A | CA389048758 | MYH7 | c.2276G>T (p.Gly759Val) n.2382G>T | COSMIC |
| 14 | g.23425705C>G | CA389048760 | MYH7 | c.2276G>C (p.Gly759Ala) n.2382G>C | |
| 14 | g.23425705C>T | CA389048759 | MYH7 | c.2276G>A (p.Gly759Asp) n.2382G>A | ClinVar COSMIC |
| 14 | g.23425706del | CA2824998234 | MYH7 | c.2276del (p.Gly759AlafsTer18) n.2382del | |
| 14 | g.23425706C>A | CA389048761 | MYH7 | c.2275G>T (p.Gly759Cys) n.2381G>T | ClinVar |
| 14 | g.23425706C>G | CA389048762 | MYH7 | c.2275G>C (p.Gly759Arg) n.2381G>C | |
| 14 | g.23425706C>T | CA389048763 | MYH7 | c.2275G>A (p.Gly759Ser) n.2381G>A | |
| 14 | g.23425707A>C | CA389048764 | MYH7 | c.2274T>G (p.Phe758Leu) n.2380T>G | |
| 14 | g.23425707A>G | CA485766871 | MYH7 | c.2274T>C (p.Phe758=) n.2380T>C | |
| 14 | g.23425707A>T | CA389048765 | MYH7 | c.2274T>A (p.Phe758Leu) n.2380T>A | |
| 14 | g.23425708A= | CA2123458176 | MYH7 | c.2273T= (p.Phe758=) n.2379T= | |
| 14 | g.23425708A>C | CA389048766 | MYH7 | c.2273T>G (p.Phe758Cys) n.2379T>G | dbSNP |
| 14 | g.23425708A>G | CA389048767 | MYH7 | c.2273T>C (p.Phe758Ser) n.2379T>C | gnomAD v4 |
| 14 | g.23425708A>T | CA389048768 | MYH7 | c.2273T>A (p.Phe758Tyr) n.2379T>A | |
| 14 | g.23425709A>C | CA389048769 | MYH7 | c.2272T>G (p.Phe758Val) n.2378T>G | |
| 14 | g.23425709A>G | CA389048770 | MYH7 | c.2272T>C (p.Phe758Leu) n.2378T>C | |
| 14 | g.23425709A>T | CA389048771 | MYH7 | c.2272T>A (p.Phe758Ile) n.2378T>A | |
| 14 | g.23425710C>A | CA389048773 | MYH7 | c.2271G>T (p.Lys757Asn) n.2377G>T | |
| 14 | g.23425710C>G | CA389048772 | MYH7 | c.2271G>C (p.Lys757Asn) n.2377G>C | |
| 14 | g.23425710C>T | CA485766873 | MYH7 | c.2271G>A (p.Lys757=) n.2377G>A | |
| 14 | g.23425711T>A | CA389048774 | MYH7 | c.2270A>T (p.Lys757Met) n.2376A>T | |
| 14 | g.23425711T>C | CA389048775 | MYH7 | c.2270A>G (p.Lys757Arg) n.2376A>G | |
| 14 | g.23425711T>G | CA389048776 | MYH7 | c.2270A>C (p.Lys757Thr) n.2376A>C | |
| 14 | g.23425712T>A | CA389048777 | MYH7 | c.2269A>T (p.Lys757Ter) n.2375A>T | |
| 14 | g.23425712T>C | CA389048778 | MYH7 | c.2269A>G (p.Lys757Glu) n.2375A>G | |
| 14 | g.23425712T>G | CA389048779 | MYH7 | c.2269A>C (p.Lys757Gln) n.2375A>C | |
| 14 | g.23425713G>A | CA485766876 | MYH7 | c.2268C>T (p.Tyr756=) n.2374C>T | ClinVar dbSNP |
| 14 | g.23425713G>C | CA389048780 | MYH7 | c.2268C>G (p.Tyr756Ter) n.2374C>G | |
| 14 | g.23425713G= | CA2123458179 | MYH7 | c.2268C= (p.Tyr756=) n.2374C= | |
| 14 | g.23425713G>T | CA389048781 | MYH7 | c.2268C>A (p.Tyr756Ter) n.2374C>A | |
| 14 | g.23425714T>A | CA389048782 | MYH7 | c.2267A>T (p.Tyr756Phe) n.2373A>T | ClinVar |
| 14 | g.23425714T>C | CA389048783 | MYH7 | c.2267A>G (p.Tyr756Cys) n.2373A>G | |
| 14 | g.23425714T>G | CA389048784 | MYH7 | c.2267A>C (p.Tyr756Ser) n.2373A>C | |
| 14 | g.23425715A= | CA2123458183 | MYH7 | c.2266T= (p.Tyr756=) n.2372T= | |
| 14 | g.23425715A>C | CA389048787 | MYH7 | c.2266T>G (p.Tyr756Asp) n.2372T>G | |
| 14 | g.23425715A>G | CA389048786 | MYH7 | c.2266T>C (p.Tyr756His) n.2372T>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23425715A>T | CA389048785 | MYH7 | c.2266T>A (p.Tyr756Asn) n.2372T>A | |
| 14 | g.23425716C>A | CA389048788 | MYH7 | c.2265G>T (p.Gln755His) n.2371G>T | |
| 14 | g.23425716C= | CA2123458185 | MYH7 | c.2265G= (p.Gln755=) n.2371G= | |
| 14 | g.23425716C>G | CA389048789 | MYH7 | c.2265G>C (p.Gln755His) n.2371G>C | |
| 14 | g.23425716C>T | CA485766880 | MYH7 | c.2265G>A (p.Gln755=) n.2371G>A | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23425717T>A | CA389048790 | MYH7 | c.2264A>T (p.Gln755Leu) n.2370A>T | gnomAD v4 |
| 14 | g.23425717T>C | CA389048791 | MYH7 | c.2264A>G (p.Gln755Arg) n.2370A>G | |
| 14 | g.23425717T>G | CA389048792 | MYH7 | c.2264A>C (p.Gln755Pro) n.2370A>C | |
| 14 | g.23425718G>A | CA031873 | MYH7 | c.2263C>T (p.Gln755Ter) n.2369C>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 14 | g.23425718G>C | CA389048793 | MYH7 | c.2263C>G (p.Gln755Glu) n.2369C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23425718G= | CA2123458187 | MYH7 | c.2263C= (p.Gln755=) n.2369C= | |
| 14 | g.23425718G>T | CA389048794 | MYH7 | c.2263C>A (p.Gln755Lys) n.2369C>A | |
| 14 | g.23425719G>A | CA485766883 | MYH7 | c.2262C>T (p.Asn754=) n.2368C>T | |
| 14 | g.23425719G>C | CA389048795 | MYH7 | c.2262C>G (p.Asn754Lys) n.2368C>G | ClinVar |
| 14 | g.23425719G>T | CA389048796 | MYH7 | c.2262C>A (p.Asn754Lys) n.2368C>A | |
| 14 | g.23425720T>A | CA389048797 | MYH7 | c.2261A>T (p.Asn754Ile) n.2367A>T | |
| 14 | g.23425720T>C | CA389048798 | MYH7 | c.2261A>G (p.Asn754Ser) n.2367A>G | ClinVar |
| 14 | g.23425720T>G | CA389048799 | MYH7 | c.2261A>C (p.Asn754Thr) n.2367A>C | |
| 14 | g.23425721T>A | CA389048800 | MYH7 | c.2260A>T (p.Asn754Tyr) n.2366A>T | |
| 14 | g.23425721T>C | CA389048802 | MYH7 | c.2260A>G (p.Asn754Asp) n.2366A>G | ClinVar dbSNP |
| 14 | g.23425721T>G | CA389048801 | MYH7 | c.2260A>C (p.Asn754His) n.2366A>C | ClinVar dbSNP gnomAD v2 |
| 14 | g.23425721T= | CA2123458190 | MYH7 | c.2260A= (p.Asn754=) n.2366A= | |
| 14 | g.23425722G>A | CA485766888 | MYH7 | c.2259C>T (p.His753=) n.2365C>T | gnomAD v4 |
| 14 | g.23425722G>C | CA389048803 | MYH7 | c.2259C>G (p.His753Gln) n.2365C>G | |
| 14 | g.23425722G>T | CA389048804 | MYH7 | c.2259C>A (p.His753Gln) n.2365C>A | |
| 14 | g.23425723T>A | CA389048805 | MYH7 | c.2258A>T (p.His753Leu) n.2364A>T | |
| 14 | g.23425723T>C | CA389048806 | MYH7 | c.2258A>G (p.His753Arg) n.2364A>G | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23425723T>G | CA389048807 | MYH7 | c.2258A>C (p.His753Pro) n.2364A>C | |
| 14 | g.23425723T= | CA2123458192 | MYH7 | c.2258A= (p.His753=) n.2364A= | |
| 14 | g.23425724G>A | CA389048808 | MYH7 | c.2257C>T (p.His753Tyr) n.2363C>T | |
| 14 | g.23425724G>C | CA257820658 | MYH7 | c.2257C>G (p.His753Asp) n.2363C>G | dbSNP |
| 14 | g.23425724G= | CA2123458196 | MYH7 | c.2257C= (p.His753=) n.2363C= | |
| 14 | g.23425724G>T | CA389048809 | MYH7 | c.2257C>A (p.His753Asn) n.2363C>A | |
| 14 | g.23425725A= | CA2123458198 | MYH7 | c.2256T= (p.Asp752=) n.2362T= | |
| 14 | g.23425725A>C | CA389048810 | MYH7 | c.2256T>G (p.Asp752Glu) n.2362T>G | |
| 14 | g.23425725A>G | CA257820663 | MYH7 | c.2256T>C (p.Asp752=) n.2362T>C | dbSNP gnomAD v4 |
| 14 | g.23425725A>T | CA389048811 | MYH7 | c.2256T>A (p.Asp752Glu) n.2362T>A | |
| 14 | g.23425726T>A | CA389048813 | MYH7 | c.2255A>T (p.Asp752Val) n.2361A>T | |
| 14 | g.23425726T>C | CA389048814 | MYH7 | c.2255A>G (p.Asp752Gly) n.2361A>G | |
| 14 | g.23425726T>G | CA389048812 | MYH7 | c.2255A>C (p.Asp752Ala) n.2361A>C | |
| 14 | g.23425727C>A | CA389048817 | MYH7 | c.2254G>T (p.Asp752Tyr) n.2360G>T | |
| 14 | g.23425727C= | CA2123458200 | MYH7 | c.2254G= (p.Asp752=) n.2360G= | |
| 14 | g.23425727C>G | CA389048815 | MYH7 | c.2254G>C (p.Asp752His) n.2360G>C | COSMIC |
| 14 | g.23425727C>T | CA389048816 | MYH7 | c.2254G>A (p.Asp752Asn) n.2360G>A | dbSNP |
| 14 | g.23425728A>C | CA389048818 | MYH7 | c.2253T>G (p.Ile751Met) n.2359T>G | |
| 14 | g.23425728A>G | CA485766906 | MYH7 | c.2253T>C (p.Ile751=) n.2359T>C | gnomAD v4 |
| 14 | g.23425728A>T | CA485766905 | MYH7 | c.2253T>A (p.Ile751=) n.2359T>A | |
| 14 | g.23425729A= | CA2123458202 | MYH7 | c.2252T= (p.Ile751=) n.2358T= | |
| 14 | g.23425729A>C | CA389048819 | MYH7 | c.2252T>G (p.Ile751Ser) n.2358T>G | |
| 14 | g.23425729A>G | CA389048820 | MYH7 | c.2252T>C (p.Ile751Thr) n.2358T>C | ClinVar dbSNP |
| 14 | g.23425729A>T | CA389048821 | MYH7 | c.2252T>A (p.Ile751Asn) n.2358T>A | |
| 14 | g.23425730T>A | CA389048822 | MYH7 | c.2251A>T (p.Ile751Phe) n.2357A>T | ClinVar dbSNP |
| 14 | g.23425730T>C | CA389048823 | MYH7 | c.2251A>G (p.Ile751Val) n.2357A>G | ClinVar dbSNP |
| 14 | g.23425730T>G | CA389048824 | MYH7 | c.2251A>C (p.Ile751Leu) n.2357A>C | |
| 14 | g.23425730T= | CA2123458213 | MYH7 | c.2251A= (p.Ile751=) n.2357A= | |
| 14 | g.23425731G>A | CA257820668 | MYH7 | c.2250C>T (p.Asp750=) n.2356C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23425731G>C | CA389048825 | MYH7 | c.2250C>G (p.Asp750Glu) n.2356C>G | |
| 14 | g.23425731G= | CA2123458222 | MYH7 | c.2250C= (p.Asp750=) n.2356C= | |
| 14 | g.23425731G>T | CA389048826 | MYH7 | c.2250C>A (p.Asp750Glu) n.2356C>A | |
| 14 | g.23425732T>A | CA389048828 | MYH7 | c.2249A>T (p.Asp750Val) n.2355A>T | |
| 14 | g.23425732T>C | CA389048829 | MYH7 | c.2249A>G (p.Asp750Gly) n.2355A>G | gnomAD v4 |
| 14 | g.23425732T>G | CA389048827 | MYH7 | c.2249A>C (p.Asp750Ala) n.2355A>C | |
| 14 | g.23425733C>A | CA389048830 | MYH7 | c.2248G>T (p.Asp750Tyr) n.2354G>T | |
| 14 | g.23425733C= | CA2123458226 | MYH7 | c.2248G= (p.Asp750=) n.2354G= | |
| 14 | g.23425733C>G | CA389048831 | MYH7 | c.2248G>C (p.Asp750His) n.2354G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23425733C>T | CA389048832 | MYH7 | c.2248G>A (p.Asp750Asn) n.2354G>A | dbSNP |
| 14 | g.23425734del | CA2624230225 | MYH7 | c.2248del (p.Asp750ThrfsTer27) n.2354del | gnomAD v4 |
| 14 | g.23425734C>A | CA485766916 | MYH7 | c.2247G>T (p.Leu749=) n.2353G>T | |
| 14 | g.23425734C>G | CA485766917 | MYH7 | c.2247G>C (p.Leu749=) n.2353G>C | ClinVar |
| 14 | g.23425734C>T | CA485766918 | MYH7 | c.2247G>A (p.Leu749=) n.2353G>A | ClinVar dbSNP |
| 14 | g.23425735A= | CA2123458230 | MYH7 | c.2246T= (p.Leu749=) n.2352T= | |
| 14 | g.23425735A>C | CA389048833 | MYH7 | c.2246T>G (p.Leu749Arg) n.2352T>G | |
| 14 | g.23425735A>G | CA389048834 | MYH7 | c.2246T>C (p.Leu749Pro) n.2352T>C | |
| 14 | g.23425735A>T | CA012055 | MYH7 | c.2246T>A (p.Leu749Gln) n.2352T>A | ClinVar dbSNP |
| 14 | g.23425736G>A | CA485766919 | MYH7 | c.2245C>T (p.Leu749=) n.2351C>T | ClinVar |
| 14 | g.23425736G>C | CA389048835 | MYH7 | c.2245C>G (p.Leu749Val) n.2351C>G | |
| 14 | g.23425736G>T | CA389048836 | MYH7 | c.2245C>A (p.Leu749Met) n.2351C>A | |
| 14 | g.23425737G>A | CA485766923 | MYH7 | c.2244C>T (p.Ser748=) n.2350C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23425737G>C | CA485766924 | MYH7 | c.2244C>G (p.Ser748=) n.2350C>G | |
| 14 | g.23425737G= | CA2123458240 | MYH7 | c.2244C= (p.Ser748=) n.2350C= | |
| 14 | g.23425737G>T | CA485766925 | MYH7 | c.2244C>A (p.Ser748=) n.2350C>A | |
| 14 | g.23425738G>A | CA389048837 | MYH7 | c.2243C>T (p.Ser748Phe) n.2349C>T | |
| 14 | g.23425738G>C | CA389048838 | MYH7 | c.2243C>G (p.Ser748Cys) n.2349C>G | |
| 14 | g.23425738G>T | CA389048839 | MYH7 | c.2243C>A (p.Ser748Tyr) n.2349C>A | |
| 14 | g.23425738_23425739delinsAT | CA2580088002 | MYH7 | c.2242_2243delinsAT (p.Ser748Ile) n.2348_2349delinsAT | ClinVar |
| 14 | g.23425739A= | CA2123458246 | MYH7 | c.2242T= (p.Ser748=) n.2348T= | |
| 14 | g.23425739A>C | CA389048840 | MYH7 | c.2242T>G (p.Ser748Ala) n.2348T>G | |
| 14 | g.23425739A>G | CA10576958 | MYH7 | c.2242T>C (p.Ser748Pro) n.2348T>C | ClinVar dbSNP |
| 14 | g.23425739A>T | CA389048841 | MYH7 | c.2242T>A (p.Ser748Thr) n.2348T>A | gnomAD v4 |
| 14 | g.23425740G>A | CA485766930 | MYH7 | c.2241C>T (p.Ser747=) n.2347C>T | dbSNP gnomAD v4 |
| 14 | g.23425740G>C | CA389048842 | MYH7 | c.2241C>G (p.Ser747Arg) n.2347C>G | |
| 14 | g.23425740G= | CA2123458252 | MYH7 | c.2241C= (p.Ser747=) n.2347C= | |
| 14 | g.23425740G>T | CA389048843 | MYH7 | c.2241C>A (p.Ser747Arg) n.2347C>A | |
| 14 | g.23425741C>A | CA389048844 | MYH7 | c.2240G>T (p.Ser747Ile) n.2346G>T | |
| 14 | g.23425741C>G | CA389048845 | MYH7 | c.2240G>C (p.Ser747Thr) n.2346G>C | |
| 14 | g.23425741C>T | CA389048846 | MYH7 | c.2240G>A (p.Ser747Asn) n.2346G>A | |
| 14 | g.23425742T>A | CA389048847 | MYH7 | c.2239A>T (p.Ser747Cys) n.2345A>T | gnomAD v4 |
| 14 | g.23425742T>C | CA389048848 | MYH7 | c.2239A>G (p.Ser747Gly) n.2345A>G | dbSNP |
| 14 | g.23425742T>G | CA389048849 | MYH7 | c.2239A>C (p.Ser747Arg) n.2345A>C | |
| 14 | g.23425742T= | CA2123458256 | MYH7 | c.2239A= (p.Ser747=) n.2345A= | |
| 14 | g.23425743G>A | CA031861 | MYH7 | c.2238C>T (p.Leu746=) n.2344C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23425743G>C | CA485766938 | MYH7 | c.2238C>G (p.Leu746=) n.2344C>G | dbSNP |
| 14 | g.23425743G= | CA2123458259 | MYH7 | c.2238C= (p.Leu746=) n.2344C= | |
| 14 | g.23425743G>T | CA485766940 | MYH7 | c.2238C>A (p.Leu746=) n.2344C>A | gnomAD v4 |
| 14 | g.23425744A>C | CA389048850 | MYH7 | c.2237T>G (p.Leu746Arg) n.2343T>G | |
| 14 | g.23425744A>G | CA389048851 | MYH7 | c.2237T>C (p.Leu746Pro) n.2343T>C | |
| 14 | g.23425744A>T | CA389048852 | MYH7 | c.2237T>A (p.Leu746His) n.2343T>A | |
| 14 | g.23425745G>A | CA389048853 | MYH7 | c.2236C>T (p.Leu746Phe) n.2342C>T | ClinVar |
| 14 | g.23425745G>C | CA389048854 | MYH7 | c.2236C>G (p.Leu746Val) n.2342C>G | |
| 14 | g.23425745G>T | CA389048855 | MYH7 | c.2236C>A (p.Leu746Ile) n.2342C>A | |
| 14 | g.23425746C>A | CA485766945 | MYH7 | c.2235G>T (p.Leu745=) n.2341G>T | |
| 14 | g.23425746C= | CA2123458262 | MYH7 | c.2235G= (p.Leu745=) n.2341G= | |
| 14 | g.23425746C>G | CA257820684 | MYH7 | c.2235G>C (p.Leu745=) n.2341G>C | ClinVar dbSNP |
| 14 | g.23425746C>T | CA485766948 | MYH7 | c.2235G>A (p.Leu745=) n.2341G>A | |
| 14 | g.23425747A>C | CA389048858 | MYH7 | c.2234T>G (p.Leu745Arg) n.2340T>G | |
| 14 | g.23425747A>G | CA389048856 | MYH7 | c.2234T>C (p.Leu745Pro) n.2340T>C | |
| 14 | g.23425747A>T | CA389048857 | MYH7 | c.2234T>A (p.Leu745Gln) n.2340T>A | |
| 14 | g.23425748G>A | CA031847 | MYH7 | c.2233C>T (p.Leu745=) n.2339C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23425748G>C | CA389048859 | MYH7 | c.2233C>G (p.Leu745Val) n.2339C>G | |
| 14 | g.23425748G= | CA2123458264 | MYH7 | c.2233C= (p.Leu745=) n.2339C= | |
| 14 | g.23425748G>T | CA389048860 | MYH7 | c.2233C>A (p.Leu745Met) n.2339C>A | |
| 14 | g.23425749C>A | CA389048861 | MYH7 | c.2232G>T (p.Lys744Asn) n.2338G>T | dbSNP gnomAD v4 |
| 14 | g.23425749C= | CA2123458267 | MYH7 | c.2232G= (p.Lys744=) n.2338G= | |
| 14 | g.23425749C>G | CA389048862 | MYH7 | c.2232G>C (p.Lys744Asn) n.2338G>C | dbSNP |
| 14 | g.23425749C>T | CA031829 | MYH7 | c.2232G>A (p.Lys744=) n.2338G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23425750T>A | CA389048863 | MYH7 | c.2231A>T (p.Lys744Met) n.2337A>T | |
| 14 | g.23425750T>C | CA389048864 | MYH7 | c.2231A>G (p.Lys744Arg) n.2337A>G | |
| 14 | g.23425750T>G | CA389048865 | MYH7 | c.2231A>C (p.Lys744Thr) n.2337A>C | ClinVar dbSNP |
| 14 | g.23425751T>A | CA389048866 | MYH7 | c.2230A>T (p.Lys744Ter) n.2336A>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23425751T>C | CA389048867 | MYH7 | c.2230A>G (p.Lys744Glu) n.2336A>G | |
| 14 | g.23425751T>G | CA389048868 | MYH7 | c.2230A>C (p.Lys744Gln) n.2336A>C | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23425751T= | CA2123458276 | MYH7 | c.2230A= (p.Lys744=) n.2336A= | |
| 14 | g.23425752C>A | CA389048869 | MYH7 | c.2229G>T (p.Glu743Asp) n.2335G>T | |
| 14 | g.23425752C= | CA2123458288 | MYH7 | c.2229G= (p.Glu743=) n.2335G= | |
| 14 | g.23425752C>G | CA012046 | MYH7 | c.2229G>C (p.Glu743Asp) n.2335G>C | ClinVar dbSNP |
| 14 | g.23425752C>T | CA012039 | MYH7 | c.2229G>A (p.Glu743=) n.2335G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23425753T>A | CA389048870 | MYH7 | c.2228A>T (p.Glu743Val) n.2334A>T | |
| 14 | g.23425753T>C | CA389048872 | MYH7 | c.2228A>G (p.Glu743Gly) n.2334A>G | ClinVar dbSNP |
| 14 | g.23425753T>G | CA389048871 | MYH7 | c.2228A>C (p.Glu743Ala) n.2334A>C | |
| 14 | g.23425753T= | CA2123458292 | MYH7 | c.2228A= (p.Glu743=) n.2334A= | |
| 14 | g.23425754C>A | CA389048873 | MYH7 | c.2227G>T (p.Glu743Ter) n.2333G>T | |
| 14 | g.23425754C>G | CA389048874 | MYH7 | c.2227G>C (p.Glu743Gln) n.2333G>C | COSMIC |
| 14 | g.23425754C>T | CA389048875 | MYH7 | c.2227G>A (p.Glu743Lys) n.2333G>A | gnomAD v4 |
| 14 | g.23425755T>A | CA485766954 | MYH7 | c.2226A>T (p.Ala742=) n.2332A>T | dbSNP |
| 14 | g.23425755T>C | CA485766955 | MYH7 | c.2226A>G (p.Ala742=) n.2332A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23425755T>G | CA485766957 | MYH7 | c.2226A>C (p.Ala742=) n.2332A>C | |
| 14 | g.23425755T= | CA2123458295 | MYH7 | c.2226A= (p.Ala742=) n.2332A= | |
| 14 | g.23425756G>A | CA389048876 | MYH7 | c.2225C>T (p.Ala742Val) n.2331C>T | |
| 14 | g.23425756G>C | CA389048877 | MYH7 | c.2225C>G (p.Ala742Gly) n.2331C>G | dbSNP |
| 14 | g.23425756G= | CA2123458299 | MYH7 | c.2225C= (p.Ala742=) n.2331C= | |
| 14 | g.23425756G>T | CA012029 | MYH7 | c.2225C>A (p.Ala742Glu) n.2331C>A | ClinVar dbSNP |
| 14 | g.23425757C>A | CA389048878 | MYH7 | c.2224G>T (p.Ala742Ser) n.2330G>T | |
| 14 | g.23425757C= | CA2123458305 | MYH7 | c.2224G= (p.Ala742=) n.2330G= | |
| 14 | g.23425757C>G | CA389048879 | MYH7 | c.2224G>C (p.Ala742Pro) n.2330G>C | ClinVar dbSNP |
| 14 | g.23425757C>T | CA031805 | MYH7 | c.2224G>A (p.Ala742Thr) n.2330G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23425758C>A | CA485766962 | MYH7 | c.2223G>T (p.Gly741=) n.2329G>T | |
| 14 | g.23425758C>G | CA485766961 | MYH7 | c.2223G>C (p.Gly741=) n.2329G>C | |
| 14 | g.23425758C>T | CA485766960 | MYH7 | c.2223G>A (p.Gly741=) n.2329G>A | |
| 14 | g.23425758_23425762delinsCCCCT | CA2123458310 | MYH7 | c.2219_2223delinsAGGGG (p.Lys740=) n.2325_2329delinsAGGGG | |
| 14 | g.23425759C>A | CA389048880 | MYH7 | c.2222G>T (p.Gly741Val) n.2328G>T | |
| 14 | g.23425759C= | CA2123458313 | MYH7 | c.2222G= (p.Gly741=) n.2328G= | |
| 14 | g.23425759C>G | CA389048881 | MYH7 | c.2222G>C (p.Gly741Ala) n.2328G>C | |
| 14 | g.23425759C>T | CA16606949 | MYH7 | c.2222G>A (p.Gly741Glu) n.2328G>A | ClinVar dbSNP |
| 14 | g.23425759_23425762del | CA961068348 | MYH7 | c.2219_2222del (p.Lys740ArgfsTer?) n.2325_2328del | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23425760C>A | CA012022 | MYH7 | c.2221G>T (p.Gly741Trp) n.2327G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23425760C= | CA2123458327 | MYH7 | c.2221G= (p.Gly741=) n.2327G= | |
| 14 | g.23425760C>G | CA012013 | MYH7 | c.2221G>C (p.Gly741Arg) n.2327G>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23425760C>T | CA012004 | MYH7 | c.2221G>A (p.Gly741Arg) n.2327G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23425760_23425761delinsAA | CA2580088004 | MYH7 | c.2220_2221delinsTT (p.Lys740_Gly741delinsAsnTrp) n.2326_2327delinsTT | ClinVar |
| 14 | g.23425761C>A | CA389048882 | MYH7 | c.2220G>T (p.Lys740Asn) n.2326G>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23425761C= | CA2123458359 | MYH7 | c.2220G= (p.Lys740=) n.2326G= | |
| 14 | g.23425761C>G | CA389048883 | MYH7 | c.2220G>C (p.Lys740Asn) n.2326G>C | |
| 14 | g.23425761C>T | CA485766967 | MYH7 | c.2220G>A (p.Lys740=) n.2326G>A | dbSNP |
| 14 | g.23425762T>A | CA389048884 | MYH7 | c.2219A>T (p.Lys740Met) n.2325A>T | |
| 14 | g.23425762T>C | CA389048885 | MYH7 | c.2219A>G (p.Lys740Arg) n.2325A>G | |
| 14 | g.23425762T>G | CA389048886 | MYH7 | c.2219A>C (p.Lys740Thr) n.2325A>C | |
| 14 | g.23425763T>A | CA389048887 | MYH7 | c.2218A>T (p.Lys740Ter) n.2324A>T | |
| 14 | g.23425763T>C | CA389048888 | MYH7 | c.2218A>G (p.Lys740Glu) n.2324A>G | |
| 14 | g.23425763T>G | CA389048889 | MYH7 | c.2218A>C (p.Lys740Gln) n.2324A>C | |
| 14 | g.23425764C>A | CA011985 | MYH7 | c.2217G>T (p.Arg739Ser) n.2323G>T | ClinVar dbSNP |
| 14 | g.23425764C= | CA2123458372 | MYH7 | c.2217G= (p.Arg739=) n.2323G= | |
| 14 | g.23425764C>G | CA389048890 | MYH7 | c.2217G>C (p.Arg739Ser) n.2323G>C | ClinVar dbSNP |
| 14 | g.23425764C>T | CA257820727 | MYH7 | c.2217G>A (p.Arg739=) n.2323G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23425765C>A | CA389048891 | MYH7 | c.2216G>T (p.Arg739Met) n.2322G>T | |
| 14 | g.23425765C>G | CA389048892 | MYH7 | c.2216G>C (p.Arg739Thr) n.2322G>C | |
| 14 | g.23425765C>T | CA389048893 | MYH7 | c.2216G>A (p.Arg739Lys) n.2322G>A | |
| 14 | g.23425766T>A | CA389048894 | MYH7 | c.2215A>T (p.Arg739Trp) n.2321A>T | |
| 14 | g.23425766T>C | CA389048895 | MYH7 | c.2215A>G (p.Arg739Gly) n.2321A>G | ClinVar dbSNP |
| 14 | g.23425766T>G | CA485766972 | MYH7 | c.2215A>C (p.Arg739=) n.2321A>C | |
| 14 | g.23425766T= | CA2123458387 | MYH7 | c.2215A= (p.Arg739=) n.2321A= | |
| 14 | g.23425767G>A | CA485766973 | MYH7 | c.2214C>T (p.Ser738=) n.2320C>T | |
| 14 | g.23425767G>C | CA389048896 | MYH7 | c.2214C>G (p.Ser738Arg) n.2320C>G | ClinVar dbSNP |
| 14 | g.23425767G= | CA2123458391 | MYH7 | c.2214C= (p.Ser738=) n.2320C= | |
| 14 | g.23425767G>T | CA389048897 | MYH7 | c.2214C>A (p.Ser738Arg) n.2320C>A | ClinVar |
| 14 | g.23425768C>A | CA389048898 | MYH7 | c.2213G>T (p.Ser738Ile) n.2319G>T | |
| 14 | g.23425768C= | CA2123458407 | MYH7 | c.2213G= (p.Ser738=) n.2319G= | |
| 14 | g.23425768C>G | CA011976 | MYH7 | c.2213G>C (p.Ser738Thr) n.2319G>C | ClinVar dbSNP |
| 14 | g.23425768C>T | CA389048899 | MYH7 | c.2213G>A (p.Ser738Asn) n.2319G>A | ClinVar dbSNP |
| 14 | g.23425769T>A | CA16619851 | MYH7 | c.2212A>T (p.Ser738Cys) n.2318A>T | ClinVar dbSNP |
| 14 | g.23425769T>C | CA389048900 | MYH7 | c.2212A>G (p.Ser738Gly) n.2318A>G | |
| 14 | g.23425769T>G | CA389048901 | MYH7 | c.2212A>C (p.Ser738Arg) n.2318A>C | |
| 14 | g.23425769T= | CA2123458415 | MYH7 | c.2212A= (p.Ser738=) n.2318A= | |
| 14 | g.23425770A= | CA2123458422 | MYH7 | c.2211T= (p.Asp737=) n.2317T= | |
| 14 | g.23425770A>C | CA389048902 | MYH7 | c.2211T>G (p.Asp737Glu) n.2317T>G | |
| 14 | g.23425770A>G | CA485766977 | MYH7 | c.2211T>C (p.Asp737=) n.2317T>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23425770A>T | CA389048903 | MYH7 | c.2211T>A (p.Asp737Glu) n.2317T>A | |
| 14 | g.23425771T>A | CA389048904 | MYH7 | c.2210A>T (p.Asp737Val) n.2316A>T | |
| 14 | g.23425771T>C | CA389048905 | MYH7 | c.2210A>G (p.Asp737Gly) n.2316A>G | |
| 14 | g.23425771T>G | CA389048906 | MYH7 | c.2210A>C (p.Asp737Ala) n.2316A>C | |
| 14 | g.23425772C>A | CA16619852 | MYH7 | c.2209G>T (p.Asp737Tyr) n.2315G>T | ClinVar dbSNP |
| 14 | g.23425772C= | CA2123458427 | MYH7 | c.2209G= (p.Asp737=) n.2315G= | |
| 14 | g.23425772C>G | CA389048908 | MYH7 | c.2209G>C (p.Asp737His) n.2315G>C | |
| 14 | g.23425772C>T | CA389048907 | MYH7 | c.2209G>A (p.Asp737Asn) n.2315G>A | |
| 14 | g.23425772_23425779del | CA2624230353 | MYH7 | c.2202_2209del (p.Phe735Ter) n.2308_2315del | gnomAD v4 |
| 14 | g.23425773A= | CA2123458433 | MYH7 | c.2208T= (p.Ile736=) n.2314T= | |
| 14 | g.23425773A>C | CA389048909 | MYH7 | c.2208T>G (p.Ile736Met) n.2314T>G | gnomAD v4 |
| 14 | g.23425773A>G | CA031791 | MYH7 | c.2208T>C (p.Ile736=) n.2314T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23425773A>T | CA485766978 | MYH7 | c.2208T>A (p.Ile736=) n.2314T>A | dbSNP |
| 14 | g.23425774A= | CA2123458449 | MYH7 | c.2207T= (p.Ile736=) n.2313T= | |
| 14 | g.23425774A>C | CA389048910 | MYH7 | c.2207T>G (p.Ile736Ser) n.2313T>G | |
| 14 | g.23425774A>G | CA011970 | MYH7 | c.2207T>C (p.Ile736Thr) n.2313T>C | ClinVar dbSNP |
| 14 | g.23425774A>T | CA011964 | MYH7 | c.2207T>A (p.Ile736Asn) n.2313T>A | ClinVar dbSNP |
| 14 | g.23425775T>A | CA389048912 | MYH7 | c.2206A>T (p.Ile736Phe) n.2312A>T | ClinVar dbSNP |
| 14 | g.23425775T>C | CA011954 | MYH7 | c.2206A>G (p.Ile736Val) n.2312A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23425775T>G | CA389048911 | MYH7 | c.2206A>C (p.Ile736Leu) n.2312A>C | |
| 14 | g.23425775T= | CA2123458460 | MYH7 | c.2206A= (p.Ile736=) n.2312A= | |
| 14 | g.23425776G>A | CA485766981 | MYH7 | c.2205C>T (p.Phe735=) n.2311C>T | gnomAD v4 |
| 14 | g.23425776G>C | CA389048913 | MYH7 | c.2205C>G (p.Phe735Leu) n.2311C>G | ClinVar |
| 14 | g.23425776G>T | CA389048914 | MYH7 | c.2205C>A (p.Phe735Leu) n.2311C>A | |
| 14 | g.23425777A>C | CA389048915 | MYH7 | c.2204T>G (p.Phe735Cys) n.2310T>G | |
| 14 | g.23425777A>G | CA389048916 | MYH7 | c.2204T>C (p.Phe735Ser) n.2310T>C | |
| 14 | g.23425777A>T | CA389048917 | MYH7 | c.2204T>A (p.Phe735Tyr) n.2310T>A |