Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |