Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23425372T>A | CA389048628 | MYH7 | c.2333A>T (p.Asp778Val) n.2439A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.23425372T>C | CA012133 | MYH7 | c.2333A>G (p.Asp778Gly) n.2439A>G | ClinVar dbSNP |
14 | g.23425372T>G | CA389048629 | MYH7 | c.2333A>C (p.Asp778Ala) n.2439A>C | |
14 | g.23425372T= | CA2123457656 | MYH7 | c.2333A= (p.Asp778=) n.2439A= | |
14 | g.23425373C>A | CA389048630 | MYH7 | c.2332G>T (p.Asp778Tyr) n.2438G>T | |
14 | g.23425373C= | CA2123457671 | MYH7 | c.2332G= (p.Asp778=) n.2438G= | |
14 | g.23425373C>G | CA389048631 | MYH7 | c.2332G>C (p.Asp778His) n.2438G>C | ClinVar dbSNP |
14 | g.23425373C>T | CA012125 | MYH7 | c.2332G>A (p.Asp778Asn) n.2438G>A | ClinVar dbSNP |
14 | g.23425374C>A | CA389048632 | MYH7 | c.2331G>T (p.Arg777Ser) n.2437G>T | dbSNP gnomAD v2 |
14 | g.23425374C= | CA2123457677 | MYH7 | c.2331G= (p.Arg777=) n.2437G= | |
14 | g.23425374C>G | CA389048633 | MYH7 | c.2331G>C (p.Arg777Ser) n.2437G>C | |
14 | g.23425374C>T | CA485622776 | MYH7 | c.2331G>A (p.Arg777=) n.2437G>A | |
14 | g.23425375C>A | CA389048634 | MYH7 | c.2330G>T (p.Arg777Met) n.2436G>T | |
14 | g.23425375C>G | CA389048635 | MYH7 | c.2330G>C (p.Arg777Thr) n.2436G>C | ClinVar gnomAD v4 |
14 | g.23425375C>T | CA389048636 | MYH7 | c.2330G>A (p.Arg777Lys) n.2436G>A | ClinVar dbSNP |
14 | g.23425376T>A | CA389048637 | MYH7 | c.2329A>T (p.Arg777Trp) n.2435A>T | |
14 | g.23425376T>C | CA389048639 | MYH7 | c.2329A>G (p.Arg777Gly) n.2435A>G | |
14 | g.23425376T>G | CA485622781 | MYH7 | c.2329A>C (p.Arg777=) n.2435A>C | |
14 | g.23425377C>A | CA389048643 | MYH7 | c.2328G>T (p.Met776Ile) n.2434G>T | |
14 | g.23425377C>G | CA389048640 | MYH7 | c.2328G>C (p.Met776Ile) n.2434G>C | |
14 | g.23425377C>T | CA389048642 | MYH7 | c.2328G>A (p.Met776Ile) n.2434G>A | |
14 | g.23425378A>C | CA389048644 | MYH7 | c.2327T>G (p.Met776Arg) n.2433T>G | |
14 | g.23425378A>G | CA389048645 | MYH7 | c.2327T>C (p.Met776Thr) n.2433T>C | COSMIC |
14 | g.23425378A>T | CA389048646 | MYH7 | c.2327T>A (p.Met776Lys) n.2433T>A | |
14 | g.23425379T>A | CA389048647 | MYH7 | c.2326A>T (p.Met776Leu) n.2432A>T | |
14 | g.23425379T>C | CA389048648 | MYH7 | c.2326A>G (p.Met776Val) n.2432A>G | |
14 | g.23425379T>G | CA389048649 | MYH7 | c.2326A>C (p.Met776Leu) n.2432A>C | |
14 | g.23425381del | CA2580087927 | MYH7 | c.2326del (p.Met776Ter) n.2432del | ClinVar |
14 | g.23425380T>A | CA389048650 | MYH7 | c.2325A>T (p.Glu775Asp) n.2431A>T | |
14 | g.23425380T>C | CA485622794 | MYH7 | c.2325A>G (p.Glu775=) n.2431A>G | |
14 | g.23425380T>G | CA389048651 | MYH7 | c.2325A>C (p.Glu775Asp) n.2431A>C | |
14 | g.23425381T>A | CA389048652 | MYH7 | c.2324A>T (p.Glu775Val) n.2430A>T | |
14 | g.23425381T>C | CA389048653 | MYH7 | c.2324A>G (p.Glu775Gly) n.2430A>G | |
14 | g.23425381T>G | CA389048654 | MYH7 | c.2324A>C (p.Glu775Ala) n.2430A>C | |
14 | g.23425382C>A | CA389048657 | MYH7 | c.2323G>T (p.Glu775Ter) n.2429G>T | |
14 | g.23425382C>G | CA389048656 | MYH7 | c.2323G>C (p.Glu775Gln) n.2429G>C | |
14 | g.23425382C>T | CA389048655 | MYH7 | c.2323G>A (p.Glu775Lys) n.2429G>A | ClinVar dbSNP |
14 | g.23425383C>A | CA389048658 | MYH7 | c.2322G>T (p.Glu774Asp) n.2428G>T | |
14 | g.23425383C= | CA2123457685 | MYH7 | c.2322G= (p.Glu774=) n.2428G= | |
14 | g.23425383C>G | CA389048659 | MYH7 | c.2322G>C (p.Glu774Asp) n.2428G>C | |
14 | g.23425383C>T | CA485622802 | MYH7 | c.2322G>A (p.Glu774=) n.2428G>A | ClinVar dbSNP gnomAD v4 COSMIC |
14 | g.23425384T>A | CA389048660 | MYH7 | c.2321A>T (p.Glu774Val) n.2427A>T | dbSNP |
14 | g.23425384T>C | CA389048661 | MYH7 | c.2321A>G (p.Glu774Gly) n.2427A>G | |
14 | g.23425384T>G | CA389048662 | MYH7 | c.2321A>C (p.Glu774Ala) n.2427A>C | |
14 | g.23425384T= | CA2123457688 | MYH7 | c.2321A= (p.Glu774=) n.2427A= | |
14 | g.23425385C>A | CA389048663 | MYH7 | c.2320G>T (p.Glu774Ter) n.2426G>T | |
14 | g.23425385C>G | CA389048664 | MYH7 | c.2320G>C (p.Glu774Gln) n.2426G>C | |
14 | g.23425385C>T | CA389048665 | MYH7 | c.2320G>A (p.Glu774Lys) n.2426G>A | |
14 | g.23425395_23425403dup | CA337534 | MYH7 | c.2312_2320dup (p.Leu773_Glu774insGlyLeuLeu) n.2418_2426dup | ClinVar dbSNP |
14 | g.23425395_23425403del | CA913184893 | MYH7 | c.2312_2320del (p.Gly771_Leu773del) n.2418_2426del | ClinVar dbSNP |