Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.77174735C>A | CA2615249275 | MYO7A | c.1936-21C>A (n.1936-21C>A) c.1903-21C>A (n.1903-21C>A) c.1705-21C>A (n.1705-21C>A) c.1678-21C>A (n.1678-21C>A) n.2256-21C>A n.2258-21C>A c.2026-21C>A (n.2026-21C>A) c.1795-21C>A (n.1795-21C>A) n.2041-21C>A | gnomAD v4 |
11 | g.77174735C= | CA1984113444 | MYO7A | c.1936-21C= (n.1936-21C=) c.1903-21C= (n.1903-21C=) c.1705-21C= (n.1705-21C=) c.1678-21C= (n.1678-21C=) n.2256-21C= n.2258-21C= c.2026-21C= (n.2026-21C=) c.1795-21C= (n.1795-21C=) n.2041-21C= | |
11 | g.77174735C>G | CA2574931090 | MYO7A | c.1936-21C>G (n.1936-21C>G) c.1903-21C>G (n.1903-21C>G) c.1705-21C>G (n.1705-21C>G) c.1678-21C>G (n.1678-21C>G) n.2256-21C>G n.2258-21C>G c.2026-21C>G (n.2026-21C>G) c.1795-21C>G (n.1795-21C>G) n.2041-21C>G | |
11 | g.77174735C>T | CA680376630 | MYO7A | c.1936-21C>T (n.1936-21C>T) c.1903-21C>T (n.1903-21C>T) c.1705-21C>T (n.1705-21C>T) c.1678-21C>T (n.1678-21C>T) n.2256-21C>T n.2258-21C>T c.2026-21C>T (n.2026-21C>T) c.1795-21C>T (n.1795-21C>T) n.2041-21C>T | dbSNP |
11 | g.77174736C>A | CA2615249279 | MYO7A | c.1936-20C>A (n.1936-20C>A) c.1903-20C>A (n.1903-20C>A) c.1705-20C>A (n.1705-20C>A) c.1678-20C>A (n.1678-20C>A) n.2256-20C>A n.2258-20C>A c.2026-20C>A (n.2026-20C>A) c.1795-20C>A (n.1795-20C>A) n.2041-20C>A | gnomAD v4 |
11 | g.77174736C>T | CA2615249281 | MYO7A | c.1936-20C>T (n.1936-20C>T) c.1903-20C>T (n.1903-20C>T) c.1705-20C>T (n.1705-20C>T) c.1678-20C>T (n.1678-20C>T) n.2256-20C>T n.2258-20C>T c.2026-20C>T (n.2026-20C>T) c.1795-20C>T (n.1795-20C>T) n.2041-20C>T | gnomAD v4 |
11 | g.77174737T>A | CA2615249287 | MYO7A | c.1936-19T>A (n.1936-19T>A) c.1903-19T>A (n.1903-19T>A) c.1705-19T>A (n.1705-19T>A) c.1678-19T>A (n.1678-19T>A) n.2256-19T>A n.2258-19T>A c.2026-19T>A (n.2026-19T>A) c.1795-19T>A (n.1795-19T>A) n.2041-19T>A | gnomAD v4 |
11 | g.77174737T>C | CA600710589 | MYO7A | c.1936-19T>C (n.1936-19T>C) c.1903-19T>C (n.1903-19T>C) c.1705-19T>C (n.1705-19T>C) c.1678-19T>C (n.1678-19T>C) n.2256-19T>C n.2258-19T>C c.2026-19T>C (n.2026-19T>C) c.1795-19T>C (n.1795-19T>C) n.2041-19T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77174737T= | CA1984113447 | MYO7A | c.1936-19T= (n.1936-19T=) c.1903-19T= (n.1903-19T=) c.1705-19T= (n.1705-19T=) c.1678-19T= (n.1678-19T=) n.2256-19T= n.2258-19T= c.2026-19T= (n.2026-19T=) c.1795-19T= (n.1795-19T=) n.2041-19T= | |
11 | g.77174739G>A | CA2615249319 | MYO7A | c.1936-17G>A (n.1936-17G>A) c.1903-17G>A (n.1903-17G>A) c.1705-17G>A (n.1705-17G>A) c.1678-17G>A (n.1678-17G>A) n.2256-17G>A n.2258-17G>A c.2026-17G>A (n.2026-17G>A) c.1795-17G>A (n.1795-17G>A) n.2041-17G>A | gnomAD v4 |
11 | g.77174739G>C | CA2615249320 | MYO7A | c.1936-17G>C (n.1936-17G>C) c.1903-17G>C (n.1903-17G>C) c.1705-17G>C (n.1705-17G>C) c.1678-17G>C (n.1678-17G>C) n.2256-17G>C n.2258-17G>C c.2026-17G>C (n.2026-17G>C) c.1795-17G>C (n.1795-17G>C) n.2041-17G>C | gnomAD v4 |
11 | g.77174739G= | CA1984113449 | MYO7A | c.1936-17G= (n.1936-17G=) c.1903-17G= (n.1903-17G=) c.1705-17G= (n.1705-17G=) c.1678-17G= (n.1678-17G=) n.2256-17G= n.2258-17G= c.2026-17G= (n.2026-17G=) c.1795-17G= (n.1795-17G=) n.2041-17G= | |
11 | g.77174739G>T | CA600710590 | MYO7A | c.1936-17G>T (n.1936-17G>T) c.1903-17G>T (n.1903-17G>T) c.1705-17G>T (n.1705-17G>T) c.1678-17G>T (n.1678-17G>T) n.2256-17G>T n.2258-17G>T c.2026-17G>T (n.2026-17G>T) c.1795-17G>T (n.1795-17G>T) n.2041-17G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.77174740G>A | CA2739270691 | MYO7A | c.1936-16G>A (n.1936-16G>A) c.1903-16G>A (n.1903-16G>A) c.1705-16G>A (n.1705-16G>A) c.1678-16G>A (n.1678-16G>A) n.2256-16G>A n.2258-16G>A c.2026-16G>A (n.2026-16G>A) c.1795-16G>A (n.1795-16G>A) n.2041-16G>A | ClinVar |
11 | g.77174740G>T | CA2615249329 | MYO7A | c.1936-16G>T (n.1936-16G>T) c.1903-16G>T (n.1903-16G>T) c.1705-16G>T (n.1705-16G>T) c.1678-16G>T (n.1678-16G>T) n.2256-16G>T n.2258-16G>T c.2026-16G>T (n.2026-16G>T) c.1795-16G>T (n.1795-16G>T) n.2041-16G>T | gnomAD v4 |
11 | g.77174741C>A | CA2615249331 | MYO7A | c.1936-15C>A (n.1936-15C>A) c.1903-15C>A (n.1903-15C>A) c.1705-15C>A (n.1705-15C>A) c.1678-15C>A (n.1678-15C>A) n.2256-15C>A n.2258-15C>A c.2026-15C>A (n.2026-15C>A) c.1795-15C>A (n.1795-15C>A) n.2041-15C>A | gnomAD v4 |
11 | g.77174741C= | CA1984113452 | MYO7A | c.1936-15C= (n.1936-15C=) c.1903-15C= (n.1903-15C=) c.1705-15C= (n.1705-15C=) c.1678-15C= (n.1678-15C=) n.2256-15C= n.2258-15C= c.2026-15C= (n.2026-15C=) c.1795-15C= (n.1795-15C=) n.2041-15C= | |
11 | g.77174741C>G | CA2615249332 | MYO7A | c.1936-15C>G (n.1936-15C>G) c.1903-15C>G (n.1903-15C>G) c.1705-15C>G (n.1705-15C>G) c.1678-15C>G (n.1678-15C>G) n.2256-15C>G n.2258-15C>G c.2026-15C>G (n.2026-15C>G) c.1795-15C>G (n.1795-15C>G) n.2041-15C>G | gnomAD v4 |
11 | g.77174741C>T | CA1984113453 | MYO7A | c.1936-15C>T (n.1936-15C>T) c.1903-15C>T (n.1903-15C>T) c.1705-15C>T (n.1705-15C>T) c.1678-15C>T (n.1678-15C>T) n.2256-15C>T n.2258-15C>T c.2026-15C>T (n.2026-15C>T) c.1795-15C>T (n.1795-15C>T) n.2041-15C>T | ClinVar dbSNP gnomAD v4 |
11 | g.77174742T>C | CA2574931091 | MYO7A | c.1936-14T>C (n.1936-14T>C) c.1903-14T>C (n.1903-14T>C) c.1705-14T>C (n.1705-14T>C) c.1678-14T>C (n.1678-14T>C) n.2256-14T>C n.2258-14T>C c.2026-14T>C (n.2026-14T>C) c.1795-14T>C (n.1795-14T>C) n.2041-14T>C | gnomAD v4 |
11 | g.77174743G>A | CA2615249338 | MYO7A | c.1936-13G>A (n.1936-13G>A) c.1903-13G>A (n.1903-13G>A) c.1705-13G>A (n.1705-13G>A) c.1678-13G>A (n.1678-13G>A) n.2256-13G>A n.2258-13G>A c.2026-13G>A (n.2026-13G>A) c.1795-13G>A (n.1795-13G>A) n.2041-13G>A | ClinVar gnomAD v4 |
11 | g.77174743G>T | CA2615249339 | MYO7A | c.1936-13G>T (n.1936-13G>T) c.1903-13G>T (n.1903-13G>T) c.1705-13G>T (n.1705-13G>T) c.1678-13G>T (n.1678-13G>T) n.2256-13G>T n.2258-13G>T c.2026-13G>T (n.2026-13G>T) c.1795-13G>T (n.1795-13G>T) n.2041-13G>T | gnomAD v4 |
11 | g.77174744T>C | CA2615249340 | MYO7A | c.1936-12T>C (n.1936-12T>C) c.1903-12T>C (n.1903-12T>C) c.1705-12T>C (n.1705-12T>C) c.1678-12T>C (n.1678-12T>C) n.2256-12T>C n.2258-12T>C c.2026-12T>C (n.2026-12T>C) c.1795-12T>C (n.1795-12T>C) n.2041-12T>C | gnomAD v4 |
11 | g.77174745G>A | CA2615249344 | MYO7A | c.1936-11G>A (n.1936-11G>A) c.1903-11G>A (n.1903-11G>A) c.1705-11G>A (n.1705-11G>A) c.1678-11G>A (n.1678-11G>A) n.2256-11G>A n.2258-11G>A c.2026-11G>A (n.2026-11G>A) c.1795-11G>A (n.1795-11G>A) n.2041-11G>A | gnomAD v4 |
11 | g.77174745G>C | CA2574931092 | MYO7A | c.1936-11G>C (n.1936-11G>C) c.1903-11G>C (n.1903-11G>C) c.1705-11G>C (n.1705-11G>C) c.1678-11G>C (n.1678-11G>C) n.2256-11G>C n.2258-11G>C c.2026-11G>C (n.2026-11G>C) c.1795-11G>C (n.1795-11G>C) n.2041-11G>C | |
11 | g.77174745G>T | CA2615249348 | MYO7A | c.1936-11G>T (n.1936-11G>T) c.1903-11G>T (n.1903-11G>T) c.1705-11G>T (n.1705-11G>T) c.1678-11G>T (n.1678-11G>T) n.2256-11G>T n.2258-11G>T c.2026-11G>T (n.2026-11G>T) c.1795-11G>T (n.1795-11G>T) n.2041-11G>T | gnomAD v4 |
11 | g.77174746T>A | CA2615249381 | MYO7A | c.1936-10T>A (n.1936-10T>A) c.1903-10T>A (n.1903-10T>A) c.1705-10T>A (n.1705-10T>A) c.1678-10T>A (n.1678-10T>A) n.2256-10T>A n.2258-10T>A c.2026-10T>A (n.2026-10T>A) c.1795-10T>A (n.1795-10T>A) n.2041-10T>A | gnomAD v4 |
11 | g.77174746T>C | CA2615249380 | MYO7A | c.1936-10T>C (n.1936-10T>C) c.1903-10T>C (n.1903-10T>C) c.1705-10T>C (n.1705-10T>C) c.1678-10T>C (n.1678-10T>C) n.2256-10T>C n.2258-10T>C c.2026-10T>C (n.2026-10T>C) c.1795-10T>C (n.1795-10T>C) n.2041-10T>C | gnomAD v4 |
11 | g.77174747G>A | CA680376632 | MYO7A | c.1936-9G>A (n.1936-9G>A) c.1903-9G>A (n.1903-9G>A) c.1705-9G>A (n.1705-9G>A) c.1678-9G>A (n.1678-9G>A) n.2256-9G>A n.2258-9G>A c.2026-9G>A (n.2026-9G>A) c.1795-9G>A (n.1795-9G>A) n.2041-9G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.77174747G= | CA1984113454 | MYO7A | c.1936-9G= (n.1936-9G=) c.1903-9G= (n.1903-9G=) c.1705-9G= (n.1705-9G=) c.1678-9G= (n.1678-9G=) n.2256-9G= n.2258-9G= c.2026-9G= (n.2026-9G=) c.1795-9G= (n.1795-9G=) n.2041-9G= | |
11 | g.77174747G>T | CA2615249386 | MYO7A | c.1936-9G>T (n.1936-9G>T) c.1903-9G>T (n.1903-9G>T) c.1705-9G>T (n.1705-9G>T) c.1678-9G>T (n.1678-9G>T) n.2256-9G>T n.2258-9G>T c.2026-9G>T (n.2026-9G>T) c.1795-9G>T (n.1795-9G>T) n.2041-9G>T | gnomAD v4 |
11 | g.77174748C>A | CA2615249389 | MYO7A | c.1936-8C>A (n.1936-8C>A) c.1903-8C>A (n.1903-8C>A) c.1705-8C>A (n.1705-8C>A) c.1678-8C>A (n.1678-8C>A) n.2256-8C>A n.2258-8C>A c.2026-8C>A (n.2026-8C>A) c.1795-8C>A (n.1795-8C>A) n.2041-8C>A | gnomAD v4 |
11 | g.77174748C>T | CA2574931093 | MYO7A | c.1936-8C>T (n.1936-8C>T) c.1903-8C>T (n.1903-8C>T) c.1705-8C>T (n.1705-8C>T) c.1678-8C>T (n.1678-8C>T) n.2256-8C>T n.2258-8C>T c.2026-8C>T (n.2026-8C>T) c.1795-8C>T (n.1795-8C>T) n.2041-8C>T | gnomAD v4 |
11 | g.77174749C>A | CA2615249390 | MYO7A | c.1936-7C>A (n.1936-7C>A) c.1903-7C>A (n.1903-7C>A) c.1705-7C>A (n.1705-7C>A) c.1678-7C>A (n.1678-7C>A) n.2256-7C>A n.2258-7C>A c.2026-7C>A (n.2026-7C>A) c.1795-7C>A (n.1795-7C>A) n.2041-7C>A | gnomAD v4 |
11 | g.77174749C>G | CA2615249392 | MYO7A | c.1936-7C>G (n.1936-7C>G) c.1903-7C>G (n.1903-7C>G) c.1705-7C>G (n.1705-7C>G) c.1678-7C>G (n.1678-7C>G) n.2256-7C>G n.2258-7C>G c.2026-7C>G (n.2026-7C>G) c.1795-7C>G (n.1795-7C>G) n.2041-7C>G | gnomAD v4 |
11 | g.77174750T>A | CA2615249397 | MYO7A | c.1936-6T>A (n.1936-6T>A) c.1903-6T>A (n.1903-6T>A) c.1705-6T>A (n.1705-6T>A) c.1678-6T>A (n.1678-6T>A) n.2256-6T>A n.2258-6T>A c.2026-6T>A (n.2026-6T>A) c.1795-6T>A (n.1795-6T>A) n.2041-6T>A | gnomAD v4 |
11 | g.77174750T>C | CA600710591 | MYO7A | c.1936-6T>C (n.1936-6T>C) c.1903-6T>C (n.1903-6T>C) c.1705-6T>C (n.1705-6T>C) c.1678-6T>C (n.1678-6T>C) n.2256-6T>C n.2258-6T>C c.2026-6T>C (n.2026-6T>C) c.1795-6T>C (n.1795-6T>C) n.2041-6T>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77174750T= | CA1984113457 | MYO7A | c.1936-6T= (n.1936-6T=) c.1903-6T= (n.1903-6T=) c.1705-6T= (n.1705-6T=) c.1678-6T= (n.1678-6T=) n.2256-6T= n.2258-6T= c.2026-6T= (n.2026-6T=) c.1795-6T= (n.1795-6T=) n.2041-6T= | |
11 | g.77174751G>A | CA600710592 | MYO7A | c.1936-5G>A (n.1936-5G>A) c.1903-5G>A (n.1903-5G>A) c.1705-5G>A (n.1705-5G>A) c.1678-5G>A (n.1678-5G>A) n.2256-5G>A n.2258-5G>A c.2026-5G>A (n.2026-5G>A) c.1795-5G>A (n.1795-5G>A) n.2041-5G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77174751G>C | CA600710593 | MYO7A | c.1936-5G>C (n.1936-5G>C) c.1903-5G>C (n.1903-5G>C) c.1705-5G>C (n.1705-5G>C) c.1678-5G>C (n.1678-5G>C) n.2256-5G>C n.2258-5G>C c.2026-5G>C (n.2026-5G>C) c.1795-5G>C (n.1795-5G>C) n.2041-5G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.77174751G= | CA1984113459 | MYO7A | c.1936-5G= (n.1936-5G=) c.1903-5G= (n.1903-5G=) c.1705-5G= (n.1705-5G=) c.1678-5G= (n.1678-5G=) n.2256-5G= n.2258-5G= c.2026-5G= (n.2026-5G=) c.1795-5G= (n.1795-5G=) n.2041-5G= | |
11 | g.77174751G>T | CA2615249416 | MYO7A | c.1936-5G>T (n.1936-5G>T) c.1903-5G>T (n.1903-5G>T) c.1705-5G>T (n.1705-5G>T) c.1678-5G>T (n.1678-5G>T) n.2256-5G>T n.2258-5G>T c.2026-5G>T (n.2026-5G>T) c.1795-5G>T (n.1795-5G>T) n.2041-5G>T | gnomAD v4 |
11 | g.77174752G>A | CA2573147726 | MYO7A | c.1936-4G>A (n.1936-4G>A) c.1903-4G>A (n.1903-4G>A) c.1705-4G>A (n.1705-4G>A) c.1678-4G>A (n.1678-4G>A) n.2256-4G>A n.2258-4G>A c.2026-4G>A (n.2026-4G>A) c.1795-4G>A (n.1795-4G>A) n.2041-4G>A | ClinVar dbSNP gnomAD v4 |
11 | g.77174752G>T | CA2615249420 | MYO7A | c.1936-4G>T (n.1936-4G>T) c.1903-4G>T (n.1903-4G>T) c.1705-4G>T (n.1705-4G>T) c.1678-4G>T (n.1678-4G>T) n.2256-4G>T n.2258-4G>T c.2026-4G>T (n.2026-4G>T) c.1795-4G>T (n.1795-4G>T) n.2041-4G>T | ClinVar gnomAD v4 |
11 | g.77174753C>A | CA2615249426 | MYO7A | c.1936-3C>A (n.1936-3C>A) c.1903-3C>A (n.1903-3C>A) c.1705-3C>A (n.1705-3C>A) c.1678-3C>A (n.1678-3C>A) n.2256-3C>A n.2258-3C>A c.2026-3C>A (n.2026-3C>A) c.1795-3C>A (n.1795-3C>A) n.2041-3C>A | gnomAD v4 |
11 | g.77174753C= | CA1984113462 | MYO7A | c.1936-3C= (n.1936-3C=) c.1903-3C= (n.1903-3C=) c.1705-3C= (n.1705-3C=) c.1678-3C= (n.1678-3C=) n.2256-3C= n.2258-3C= c.2026-3C= (n.2026-3C=) c.1795-3C= (n.1795-3C=) n.2041-3C= | |
11 | g.77174753C>T | CA6197650 | MYO7A | c.1936-3C>T (n.1936-3C>T) c.1903-3C>T (n.1903-3C>T) c.1705-3C>T (n.1705-3C>T) c.1678-3C>T (n.1678-3C>T) n.2256-3C>T n.2258-3C>T c.2026-3C>T (n.2026-3C>T) c.1795-3C>T (n.1795-3C>T) n.2041-3C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77174754A>C | CA381939047 | MYO7A | c.1936-2A>C (n.1936-2A>C) c.1903-2A>C (n.1903-2A>C) c.1705-2A>C (n.1705-2A>C) c.1678-2A>C (n.1678-2A>C) n.2256-2A>C n.2258-2A>C c.2026-2A>C (n.2026-2A>C) c.1795-2A>C (n.1795-2A>C) n.2041-2A>C | |
11 | g.77174754A>G | CA381939049 | MYO7A | c.1936-2A>G (n.1936-2A>G) c.1903-2A>G (n.1903-2A>G) c.1705-2A>G (n.1705-2A>G) c.1678-2A>G (n.1678-2A>G) n.2256-2A>G n.2258-2A>G c.2026-2A>G (n.2026-2A>G) c.1795-2A>G (n.1795-2A>G) n.2041-2A>G | gnomAD v4 |
11 | g.77174754A>T | CA381939052 | MYO7A | c.1936-2A>T (n.1936-2A>T) c.1903-2A>T (n.1903-2A>T) c.1705-2A>T (n.1705-2A>T) c.1678-2A>T (n.1678-2A>T) n.2256-2A>T n.2258-2A>T c.2026-2A>T (n.2026-2A>T) c.1795-2A>T (n.1795-2A>T) n.2041-2A>T | ClinVar dbSNP |
11 | g.77174755G>A | CA381939063 | MYO7A | c.1936-1G>A (n.1936-1G>A) c.1903-1G>A (n.1903-1G>A) c.1705-1G>A (n.1705-1G>A) c.1678-1G>A (n.1678-1G>A) n.2256-1G>A n.2258-1G>A c.2026-1G>A (n.2026-1G>A) c.1795-1G>A (n.1795-1G>A) n.2041-1G>A | gnomAD v4 |
11 | g.77174755G>C | CA381939060 | MYO7A | c.1936-1G>C (n.1936-1G>C) c.1903-1G>C (n.1903-1G>C) c.1705-1G>C (n.1705-1G>C) c.1678-1G>C (n.1678-1G>C) n.2256-1G>C n.2258-1G>C c.2026-1G>C (n.2026-1G>C) c.1795-1G>C (n.1795-1G>C) n.2041-1G>C | gnomAD v4 |
11 | g.77174755G>T | CA381939054 | MYO7A | c.1936-1G>T (n.1936-1G>T) c.1903-1G>T (n.1903-1G>T) c.1705-1G>T (n.1705-1G>T) c.1678-1G>T (n.1678-1G>T) n.2256-1G>T n.2258-1G>T c.2026-1G>T (n.2026-1G>T) c.1795-1G>T (n.1795-1G>T) n.2041-1G>T | gnomAD v4 |
11 | g.77174756C>A | CA381939064 | MYO7A | c.1936C>A (p.Leu646Met) c.1C>A (p.Leu1Met) c.1903C>A (p.Leu635Met) c.1705C>A (p.Leu569Met) c.1678C>A (p.Leu560Met) n.2256C>A n.2258C>A c.2026C>A (p.Leu676Met) c.1795C>A (p.Leu599Met) n.2041C>A | gnomAD v4 |
11 | g.77174756C>G | CA381939066 | MYO7A | c.1936C>G (p.Leu646Val) c.1C>G (p.Leu1Val) c.1903C>G (p.Leu635Val) c.1705C>G (p.Leu569Val) c.1678C>G (p.Leu560Val) n.2256C>G n.2258C>G c.2026C>G (p.Leu676Val) c.1795C>G (p.Leu599Val) n.2041C>G | |
11 | g.77174756C>T | CA475794516 | MYO7A | c.1936C>T (p.Leu646=) c.1C>T (p.Leu1=) c.1903C>T (p.Leu635=) c.1705C>T (p.Leu569=) c.1678C>T (p.Leu560=) n.2256C>T n.2258C>T c.2026C>T (p.Leu676=) c.1795C>T (p.Leu599=) n.2041C>T | gnomAD v4 |
11 | g.77174757T>A | CA381939069 | MYO7A | c.1937T>A (p.Leu646Gln) c.2T>A (p.Leu1Gln) c.1904T>A (p.Leu635Gln) c.1706T>A (p.Leu569Gln) c.1679T>A (p.Leu560Gln) n.2257T>A n.2259T>A c.2027T>A (p.Leu676Gln) c.1796T>A (p.Leu599Gln) n.2042T>A | |
11 | g.77174757T>C | CA381939071 | MYO7A | c.1937T>C (p.Leu646Pro) c.2T>C (p.Leu1Pro) c.1904T>C (p.Leu635Pro) c.1706T>C (p.Leu569Pro) c.1679T>C (p.Leu560Pro) n.2257T>C n.2259T>C c.2027T>C (p.Leu676Pro) c.1796T>C (p.Leu599Pro) n.2042T>C | |
11 | g.77174757T>G | CA381939073 | MYO7A | c.1937T>G (p.Leu646Arg) c.2T>G (p.Leu1Arg) c.1904T>G (p.Leu635Arg) c.1706T>G (p.Leu569Arg) c.1679T>G (p.Leu560Arg) n.2257T>G n.2259T>G c.2027T>G (p.Leu676Arg) c.1796T>G (p.Leu599Arg) n.2042T>G | gnomAD v4 |
11 | g.77174758G>A | CA475794519 | MYO7A | c.1938G>A (p.Leu646=) c.3G>A (p.Leu1=) c.1905G>A (p.Leu635=) c.1707G>A (p.Leu569=) c.1680G>A (p.Leu560=) n.2258G>A n.2260G>A c.2028G>A (p.Leu676=) c.1797G>A (p.Leu599=) n.2043G>A | gnomAD v4 |
11 | g.77174758G>C | CA475794517 | MYO7A | c.1938G>C (p.Leu646=) c.3G>C (p.Leu1=) c.1905G>C (p.Leu635=) c.1707G>C (p.Leu569=) c.1680G>C (p.Leu560=) n.2258G>C n.2260G>C c.2028G>C (p.Leu676=) c.1797G>C (p.Leu599=) n.2043G>C | |
11 | g.77174758G>T | CA475794518 | MYO7A | c.1938G>T (p.Leu646=) c.3G>T (p.Leu1=) c.1905G>T (p.Leu635=) c.1707G>T (p.Leu569=) c.1680G>T (p.Leu560=) n.2258G>T n.2260G>T c.2028G>T (p.Leu676=) c.1797G>T (p.Leu599=) n.2043G>T | gnomAD v4 |
11 | g.77174758_77174759delinsGT | CA1984113465 | MYO7A | c.1938_1939delinsGT (p.Leu646=) c.3_4delinsGT (p.Leu1=) c.1905_1906delinsGT (p.Leu635=) c.1707_1708delinsGT (p.Leu569=) c.1680_1681delinsGT (p.Leu560=) n.2258_2259delinsGT n.2260_2261delinsGT c.2028_2029delinsGT (p.Leu676=) c.1797_1798delinsGT (p.Leu599=) n.2043_2044delinsGT | |
11 | g.77174759T>A | CA381939078 | MYO7A | c.1939T>A (p.Phe647Ile) c.4T>A (p.Phe2Ile) c.1906T>A (p.Phe636Ile) c.1708T>A (p.Phe570Ile) c.1681T>A (p.Phe561Ile) n.2259T>A n.2261T>A c.2029T>A (p.Phe677Ile) c.1798T>A (p.Phe600Ile) n.2044T>A | |
11 | g.77174759T>C | CA381939077 | MYO7A | c.1939T>C (p.Phe647Leu) c.4T>C (p.Phe2Leu) c.1906T>C (p.Phe636Leu) c.1708T>C (p.Phe570Leu) c.1681T>C (p.Phe561Leu) n.2259T>C n.2261T>C c.2029T>C (p.Phe677Leu) c.1798T>C (p.Phe600Leu) n.2044T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77174759T>G | CA381939075 | MYO7A | c.1939T>G (p.Phe647Val) c.4T>G (p.Phe2Val) c.1906T>G (p.Phe636Val) c.1708T>G (p.Phe570Val) c.1681T>G (p.Phe561Val) n.2259T>G n.2261T>G c.2029T>G (p.Phe677Val) c.1798T>G (p.Phe600Val) n.2044T>G | |
11 | g.77174759T= | CA1984113473 | MYO7A | c.1939T= (p.Phe647=) c.4T= (p.Phe2=) c.1906T= (p.Phe636=) c.1708T= (p.Phe570=) c.1681T= (p.Phe561=) n.2259T= n.2261T= c.2029T= (p.Phe677=) c.1798T= (p.Phe600=) n.2044T= | |
11 | g.77174760del | CA600710594 | MYO7A | c.1940del (p.Phe647SerfsTer15) c.5del (p.Phe2SerfsTer15) c.1907del (p.Phe636SerfsTer15) c.1709del (p.Phe570SerfsTer15) c.1682del (p.Phe561SerfsTer15) n.2260del n.2262del c.2030del (p.Phe677SerfsTer15) c.1799del (p.Phe600SerfsTer15) n.2045del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.77174760T>A | CA381939080 | MYO7A | c.1940T>A (p.Phe647Tyr) c.5T>A (p.Phe2Tyr) c.1907T>A (p.Phe636Tyr) c.1709T>A (p.Phe570Tyr) c.1682T>A (p.Phe561Tyr) n.2260T>A n.2262T>A c.2030T>A (p.Phe677Tyr) c.1799T>A (p.Phe600Tyr) n.2045T>A | |
11 | g.77174760T>C | CA381939081 | MYO7A | c.1940T>C (p.Phe647Ser) c.5T>C (p.Phe2Ser) c.1907T>C (p.Phe636Ser) c.1709T>C (p.Phe570Ser) c.1682T>C (p.Phe561Ser) n.2260T>C n.2262T>C c.2030T>C (p.Phe677Ser) c.1799T>C (p.Phe600Ser) n.2045T>C | |
11 | g.77174760T>G | CA381939083 | MYO7A | c.1940T>G (p.Phe647Cys) c.5T>G (p.Phe2Cys) c.1907T>G (p.Phe636Cys) c.1709T>G (p.Phe570Cys) c.1682T>G (p.Phe561Cys) n.2260T>G n.2262T>G c.2030T>G (p.Phe677Cys) c.1799T>G (p.Phe600Cys) n.2045T>G | |
11 | g.77174761C>A | CA224837075 | MYO7A | c.1941C>A (p.Phe647Leu) c.6C>A (p.Phe2Leu) c.1908C>A (p.Phe636Leu) c.1710C>A (p.Phe570Leu) c.1683C>A (p.Phe561Leu) n.2261C>A n.2263C>A c.2031C>A (p.Phe677Leu) c.1800C>A (p.Phe600Leu) n.2046C>A | dbSNP gnomAD v4 |
11 | g.77174761C= | CA1984113477 | MYO7A | c.1941C= (p.Phe647=) c.6C= (p.Phe2=) c.1908C= (p.Phe636=) c.1710C= (p.Phe570=) c.1683C= (p.Phe561=) n.2261C= n.2263C= c.2031C= (p.Phe677=) c.1800C= (p.Phe600=) n.2046C= | |
11 | g.77174761C>G | CA381939088 | MYO7A | c.1941C>G (p.Phe647Leu) c.6C>G (p.Phe2Leu) c.1908C>G (p.Phe636Leu) c.1710C>G (p.Phe570Leu) c.1683C>G (p.Phe561Leu) n.2261C>G n.2263C>G c.2031C>G (p.Phe677Leu) c.1800C>G (p.Phe600Leu) n.2046C>G | gnomAD v4 |
11 | g.77174761C>T | CA6197651 | MYO7A | c.1941C>T (p.Phe647=) c.6C>T (p.Phe2=) c.1908C>T (p.Phe636=) c.1710C>T (p.Phe570=) c.1683C>T (p.Phe561=) n.2261C>T n.2263C>T c.2031C>T (p.Phe677=) c.1800C>T (p.Phe600=) n.2046C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.77174762G>A | CA381939095 | MYO7A | c.1942G>A (p.Asp648Asn) c.7G>A (p.Asp3Asn) c.1909G>A (p.Asp637Asn) c.1711G>A (p.Asp571Asn) c.1684G>A (p.Asp562Asn) n.2262G>A n.2264G>A c.2032G>A (p.Asp678Asn) c.1801G>A (p.Asp601Asn) n.2047G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.77174762G>C | CA381939091 | MYO7A | c.1942G>C (p.Asp648His) c.7G>C (p.Asp3His) c.1909G>C (p.Asp637His) c.1711G>C (p.Asp571His) c.1684G>C (p.Asp562His) n.2262G>C n.2264G>C c.2032G>C (p.Asp678His) c.1801G>C (p.Asp601His) n.2047G>C | |
11 | g.77174762G= | CA1984113482 | MYO7A | c.1942G= (p.Asp648=) c.7G= (p.Asp3=) c.1909G= (p.Asp637=) c.1711G= (p.Asp571=) c.1684G= (p.Asp562=) n.2262G= n.2264G= c.2032G= (p.Asp678=) c.1801G= (p.Asp601=) n.2047G= | |
11 | g.77174762G>T | CA381939093 | MYO7A | c.1942G>T (p.Asp648Tyr) c.7G>T (p.Asp3Tyr) c.1909G>T (p.Asp637Tyr) c.1711G>T (p.Asp571Tyr) c.1684G>T (p.Asp562Tyr) n.2262G>T n.2264G>T c.2032G>T (p.Asp678Tyr) c.1801G>T (p.Asp601Tyr) n.2047G>T | gnomAD v4 |
11 | g.77174763A>C | CA381939097 | MYO7A | c.1943A>C (p.Asp648Ala) c.8A>C (p.Asp3Ala) c.1910A>C (p.Asp637Ala) c.1712A>C (p.Asp571Ala) c.1685A>C (p.Asp562Ala) n.2263A>C n.2265A>C c.2033A>C (p.Asp678Ala) c.1802A>C (p.Asp601Ala) n.2048A>C | |
11 | g.77174763A>G | CA381939099 | MYO7A | c.1943A>G (p.Asp648Gly) c.8A>G (p.Asp3Gly) c.1910A>G (p.Asp637Gly) c.1712A>G (p.Asp571Gly) c.1685A>G (p.Asp562Gly) n.2263A>G n.2265A>G c.2033A>G (p.Asp678Gly) c.1802A>G (p.Asp601Gly) n.2048A>G | |
11 | g.77174763A>T | CA381939100 | MYO7A | c.1943A>T (p.Asp648Val) c.8A>T (p.Asp3Val) c.1910A>T (p.Asp637Val) c.1712A>T (p.Asp571Val) c.1685A>T (p.Asp562Val) n.2263A>T n.2265A>T c.2033A>T (p.Asp678Val) c.1802A>T (p.Asp601Val) n.2048A>T | |
11 | g.77174766_77174771del | CA2695215031 | MYO7A | c.1946_1951del (p.Arg649_His650del) c.11_16del (p.Arg4_His5del) c.1913_1918del (p.Arg638_His639del) c.1715_1720del (p.Arg572_His573del) c.1688_1693del (p.Arg563_His564del) n.2266_2271del n.2268_2273del c.2036_2041del (p.Arg679_His680del) c.1805_1810del (p.Arg602_His603del) n.2051_2056del | |
11 | g.77174764C>A | CA381939102 | MYO7A | c.1944C>A (p.Asp648Glu) c.9C>A (p.Asp3Glu) c.1911C>A (p.Asp637Glu) c.1713C>A (p.Asp571Glu) c.1686C>A (p.Asp562Glu) n.2264C>A n.2266C>A c.2034C>A (p.Asp678Glu) c.1803C>A (p.Asp601Glu) n.2049C>A | COSMIC |
11 | g.77174764C= | CA1984113484 | MYO7A | c.1944C= (p.Asp648=) c.9C= (p.Asp3=) c.1911C= (p.Asp637=) c.1713C= (p.Asp571=) c.1686C= (p.Asp562=) n.2264C= n.2266C= c.2034C= (p.Asp678=) c.1803C= (p.Asp601=) n.2049C= | |
11 | g.77174764C>G | CA381939104 | MYO7A | c.1944C>G (p.Asp648Glu) c.9C>G (p.Asp3Glu) c.1911C>G (p.Asp637Glu) c.1713C>G (p.Asp571Glu) c.1686C>G (p.Asp562Glu) n.2264C>G n.2266C>G c.2034C>G (p.Asp678Glu) c.1803C>G (p.Asp601Glu) n.2049C>G | |
11 | g.77174764C>T | CA475794520 | MYO7A | c.1944C>T (p.Asp648=) c.9C>T (p.Asp3=) c.1911C>T (p.Asp637=) c.1713C>T (p.Asp571=) c.1686C>T (p.Asp562=) n.2264C>T n.2266C>T c.2034C>T (p.Asp678=) c.1803C>T (p.Asp601=) n.2049C>T | dbSNP gnomAD v4 |
11 | g.77174765C>A | CA475794521 | MYO7A | c.1945C>A (p.Arg649=) c.10C>A (p.Arg4=) c.1912C>A (p.Arg638=) c.1714C>A (p.Arg572=) c.1687C>A (p.Arg563=) n.2265C>A n.2267C>A c.2035C>A (p.Arg679=) c.1804C>A (p.Arg602=) n.2050C>A | gnomAD v4 |
11 | g.77174765C= | CA1984113488 | MYO7A | c.1945C= (p.Arg649=) c.10C= (p.Arg4=) c.1912C= (p.Arg638=) c.1714C= (p.Arg572=) c.1687C= (p.Arg563=) n.2265C= n.2267C= c.2035C= (p.Arg679=) c.1804C= (p.Arg602=) n.2050C= | |
11 | g.77174765C>G | CA381939105 | MYO7A | c.1945C>G (p.Arg649Gly) c.10C>G (p.Arg4Gly) c.1912C>G (p.Arg638Gly) c.1714C>G (p.Arg572Gly) c.1687C>G (p.Arg563Gly) n.2265C>G n.2267C>G c.2035C>G (p.Arg679Gly) c.1804C>G (p.Arg602Gly) n.2050C>G | |
11 | g.77174765C>T | CA6197652 | MYO7A | c.1945C>T (p.Arg649Trp) c.10C>T (p.Arg4Trp) c.1912C>T (p.Arg638Trp) c.1714C>T (p.Arg572Trp) c.1687C>T (p.Arg563Trp) n.2265C>T n.2267C>T c.2035C>T (p.Arg679Trp) c.1804C>T (p.Arg602Trp) n.2050C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77174766G>A | CA381939108 | MYO7A | c.1946G>A (p.Arg649Gln) c.11G>A (p.Arg4Gln) c.1913G>A (p.Arg638Gln) c.1715G>A (p.Arg572Gln) c.1688G>A (p.Arg563Gln) n.2266G>A n.2268G>A c.2036G>A (p.Arg679Gln) c.1805G>A (p.Arg602Gln) n.2051G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77174766G>C | CA381939109 | MYO7A | c.1946G>C (p.Arg649Pro) c.11G>C (p.Arg4Pro) c.1913G>C (p.Arg638Pro) c.1715G>C (p.Arg572Pro) c.1688G>C (p.Arg563Pro) n.2266G>C n.2268G>C c.2036G>C (p.Arg679Pro) c.1805G>C (p.Arg602Pro) n.2051G>C | |
11 | g.77174766G= | CA1984113495 | MYO7A | c.1946G= (p.Arg649=) c.11G= (p.Arg4=) c.1913G= (p.Arg638=) c.1715G= (p.Arg572=) c.1688G= (p.Arg563=) n.2266G= n.2268G= c.2036G= (p.Arg679=) c.1805G= (p.Arg602=) n.2051G= | |
11 | g.77174766G>T | CA381939111 | MYO7A | c.1946G>T (p.Arg649Leu) c.11G>T (p.Arg4Leu) c.1913G>T (p.Arg638Leu) c.1715G>T (p.Arg572Leu) c.1688G>T (p.Arg563Leu) n.2266G>T n.2268G>T c.2036G>T (p.Arg679Leu) c.1805G>T (p.Arg602Leu) n.2051G>T | gnomAD v4 |
11 | g.77174766_77174767del | CA2842593026 | MYO7A | c.1946_1947del (p.Arg649ProfsTer?) c.11_12del (p.Arg4ProfsTer?) c.1913_1914del (p.Arg638ProfsTer?) c.1715_1716del (p.Arg572ProfsTer?) c.1688_1689del (p.Arg563ProfsTer?) n.2266_2267del n.2268_2269del c.2036_2037del (p.Arg679ProfsTer?) c.1805_1806del (p.Arg602ProfsTer?) n.2051_2052del | |
11 | g.77174767G>A | CA475794522 | MYO7A | c.1947G>A (p.Arg649=) c.12G>A (p.Arg4=) c.1914G>A (p.Arg638=) c.1716G>A (p.Arg572=) c.1689G>A (p.Arg563=) n.2267G>A n.2269G>A c.2037G>A (p.Arg679=) c.1806G>A (p.Arg602=) n.2052G>A | ClinVar dbSNP gnomAD v4 |
11 | g.77174767G>C | CA475794523 | MYO7A | c.1947G>C (p.Arg649=) c.12G>C (p.Arg4=) c.1914G>C (p.Arg638=) c.1716G>C (p.Arg572=) c.1689G>C (p.Arg563=) n.2267G>C n.2269G>C c.2037G>C (p.Arg679=) c.1806G>C (p.Arg602=) n.2052G>C | |
11 | g.77174767G>T | CA475794524 | MYO7A | c.1947G>T (p.Arg649=) c.12G>T (p.Arg4=) c.1914G>T (p.Arg638=) c.1716G>T (p.Arg572=) c.1689G>T (p.Arg563=) n.2267G>T n.2269G>T c.2037G>T (p.Arg679=) c.1806G>T (p.Arg602=) n.2052G>T | gnomAD v4 |
11 | g.77174768C>A | CA381939112 | MYO7A | c.1948C>A (p.His650Asn) c.13C>A (p.His5Asn) c.1915C>A (p.His639Asn) c.1717C>A (p.His573Asn) c.1690C>A (p.His564Asn) n.2268C>A n.2270C>A c.2038C>A (p.His680Asn) c.1807C>A (p.His603Asn) n.2053C>A | gnomAD v4 |
11 | g.77174768C>G | CA381939113 | MYO7A | c.1948C>G (p.His650Asp) c.13C>G (p.His5Asp) c.1915C>G (p.His639Asp) c.1717C>G (p.His573Asp) c.1690C>G (p.His564Asp) n.2268C>G n.2270C>G c.2038C>G (p.His680Asp) c.1807C>G (p.His603Asp) n.2053C>G | |
11 | g.77174768C>T | CA381939115 | MYO7A | c.1948C>T (p.His650Tyr) c.13C>T (p.His5Tyr) c.1915C>T (p.His639Tyr) c.1717C>T (p.His573Tyr) c.1690C>T (p.His564Tyr) n.2268C>T n.2270C>T c.2038C>T (p.His680Tyr) c.1807C>T (p.His603Tyr) n.2053C>T | |
11 | g.77174769A= | CA1984113500 | MYO7A | c.1949A= (p.His650=) c.14A= (p.His5=) c.1916A= (p.His639=) c.1718A= (p.His573=) c.1691A= (p.His564=) n.2269A= n.2271A= c.2039A= (p.His680=) c.1808A= (p.His603=) n.2054A= | |
11 | g.77174769A>C | CA381939120 | MYO7A | c.1949A>C (p.His650Pro) c.14A>C (p.His5Pro) c.1916A>C (p.His639Pro) c.1718A>C (p.His573Pro) c.1691A>C (p.His564Pro) n.2269A>C n.2271A>C c.2039A>C (p.His680Pro) c.1808A>C (p.His603Pro) n.2054A>C | dbSNP |
11 | g.77174769A>G | CA381939117 | MYO7A | c.1949A>G (p.His650Arg) c.14A>G (p.His5Arg) c.1916A>G (p.His639Arg) c.1718A>G (p.His573Arg) c.1691A>G (p.His564Arg) n.2269A>G n.2271A>G c.2039A>G (p.His680Arg) c.1808A>G (p.His603Arg) n.2054A>G | gnomAD v4 |
11 | g.77174769A>T | CA381939119 | MYO7A | c.1949A>T (p.His650Leu) c.14A>T (p.His5Leu) c.1916A>T (p.His639Leu) c.1718A>T (p.His573Leu) c.1691A>T (p.His564Leu) n.2269A>T n.2271A>T c.2039A>T (p.His680Leu) c.1808A>T (p.His603Leu) n.2054A>T | |
11 | g.77174770C>A | CA381939122 | MYO7A | c.1950C>A (p.His650Gln) c.15C>A (p.His5Gln) c.1917C>A (p.His639Gln) c.1719C>A (p.His573Gln) c.1692C>A (p.His564Gln) n.2270C>A n.2272C>A c.2040C>A (p.His680Gln) c.1809C>A (p.His603Gln) n.2055C>A | |
11 | g.77174770C>G | CA381939124 | MYO7A | c.1950C>G (p.His650Gln) c.15C>G (p.His5Gln) c.1917C>G (p.His639Gln) c.1719C>G (p.His573Gln) c.1692C>G (p.His564Gln) n.2270C>G n.2272C>G c.2040C>G (p.His680Gln) c.1809C>G (p.His603Gln) n.2055C>G | gnomAD v4 |
11 | g.77174770C>T | CA475794525 | MYO7A | c.1950C>T (p.His650=) c.15C>T (p.His5=) c.1917C>T (p.His639=) c.1719C>T (p.His573=) c.1692C>T (p.His564=) n.2270C>T n.2272C>T c.2040C>T (p.His680=) c.1809C>T (p.His603=) n.2055C>T | ClinVar dbSNP gnomAD v4 |
11 | g.77174771C>A | CA381939125 | MYO7A | c.1951C>A (p.Leu651Met) c.16C>A (p.Leu6Met) c.1918C>A (p.Leu640Met) c.1720C>A (p.Leu574Met) c.1693C>A (p.Leu565Met) n.2271C>A n.2273C>A c.2041C>A (p.Leu681Met) c.1810C>A (p.Leu604Met) n.2056C>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77174771C= | CA1984113509 | MYO7A | c.1951C= (p.Leu651=) c.16C= (p.Leu6=) c.1918C= (p.Leu640=) c.1720C= (p.Leu574=) c.1693C= (p.Leu565=) n.2271C= n.2273C= c.2041C= (p.Leu681=) c.1810C= (p.Leu604=) n.2056C= | |
11 | g.77174771C>G | CA381939126 | MYO7A | c.1951C>G (p.Leu651Val) c.16C>G (p.Leu6Val) c.1918C>G (p.Leu640Val) c.1720C>G (p.Leu574Val) c.1693C>G (p.Leu565Val) n.2271C>G n.2273C>G c.2041C>G (p.Leu681Val) c.1810C>G (p.Leu604Val) n.2056C>G | |
11 | g.77174771C>T | CA475794526 | MYO7A | c.1951C>T (p.Leu651=) c.16C>T (p.Leu6=) c.1918C>T (p.Leu640=) c.1720C>T (p.Leu574=) c.1693C>T (p.Leu565=) n.2271C>T n.2273C>T c.2041C>T (p.Leu681=) c.1810C>T (p.Leu604=) n.2056C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77174772T>A | CA381939128 | MYO7A | c.1952T>A (p.Leu651Gln) c.17T>A (p.Leu6Gln) c.1919T>A (p.Leu640Gln) c.1721T>A (p.Leu574Gln) c.1694T>A (p.Leu565Gln) n.2272T>A n.2274T>A c.2042T>A (p.Leu681Gln) c.1811T>A (p.Leu604Gln) n.2057T>A | |
11 | g.77174772T>C | CA10576350 | MYO7A | c.1952T>C (p.Leu651Pro) c.17T>C (p.Leu6Pro) c.1919T>C (p.Leu640Pro) c.1721T>C (p.Leu574Pro) c.1694T>C (p.Leu565Pro) n.2272T>C n.2274T>C c.2042T>C (p.Leu681Pro) c.1811T>C (p.Leu604Pro) n.2057T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77174772T>G | CA381939130 | MYO7A | c.1952T>G (p.Leu651Arg) c.17T>G (p.Leu6Arg) c.1919T>G (p.Leu640Arg) c.1721T>G (p.Leu574Arg) c.1694T>G (p.Leu565Arg) n.2272T>G n.2274T>G c.2042T>G (p.Leu681Arg) c.1811T>G (p.Leu604Arg) n.2057T>G | |
11 | g.77174772T= | CA1984113521 | MYO7A | c.1952T= (p.Leu651=) c.17T= (p.Leu6=) c.1919T= (p.Leu640=) c.1721T= (p.Leu574=) c.1694T= (p.Leu565=) n.2272T= n.2274T= c.2042T= (p.Leu681=) c.1811T= (p.Leu604=) n.2057T= | |
11 | g.77174772_77174773insAG | CA278637 | MYO7A | c.1952_1953insAG (p.Cys652GlyfsTer11) c.17_18insAG (p.Cys7GlyfsTer11) c.1919_1920insAG (p.Cys641GlyfsTer11) c.1721_1722insAG (p.Cys575GlyfsTer11) c.1694_1695insAG (p.Cys566GlyfsTer11) n.2272_2273insAG n.2274_2275insAG c.2042_2043insAG (p.Cys682GlyfsTer11) c.1811_1812insAG (p.Cys605GlyfsTer11) n.2057_2058insAG | ClinVar dbSNP |
11 | g.77174773G>A | CA475794529 | MYO7A | c.1953G>A (p.Leu651=) c.18G>A (p.Leu6=) c.1920G>A (p.Leu640=) c.1722G>A (p.Leu574=) c.1695G>A (p.Leu565=) n.2273G>A n.2275G>A c.2043G>A (p.Leu681=) c.1812G>A (p.Leu604=) n.2058G>A | ClinVar dbSNP |
11 | g.77174773G>C | CA475794528 | MYO7A | c.1953G>C (p.Leu651=) c.18G>C (p.Leu6=) c.1920G>C (p.Leu640=) c.1722G>C (p.Leu574=) c.1695G>C (p.Leu565=) n.2273G>C n.2275G>C c.2043G>C (p.Leu681=) c.1812G>C (p.Leu604=) n.2058G>C | |
11 | g.77174773G= | CA1984113534 | MYO7A | c.1953G= (p.Leu651=) c.18G= (p.Leu6=) c.1920G= (p.Leu640=) c.1722G= (p.Leu574=) c.1695G= (p.Leu565=) n.2273G= n.2275G= c.2043G= (p.Leu681=) c.1812G= (p.Leu604=) n.2058G= | |
11 | g.77174773G>T | CA475794527 | MYO7A | c.1953G>T (p.Leu651=) c.18G>T (p.Leu6=) c.1920G>T (p.Leu640=) c.1722G>T (p.Leu574=) c.1695G>T (p.Leu565=) n.2273G>T n.2275G>T c.2043G>T (p.Leu681=) c.1812G>T (p.Leu604=) n.2058G>T | |
11 | g.77174774del | CA2695215032 | MYO7A | c.1954del (p.Cys652AlafsTer10) c.19del (p.Cys7AlafsTer10) c.1921del (p.Cys641AlafsTer10) c.1723del (p.Cys575AlafsTer10) c.1696del (p.Cys566AlafsTer10) n.2274del n.2276del c.2044del (p.Cys682AlafsTer10) c.1813del (p.Cys605AlafsTer10) n.2059del | |
11 | g.77174774T>A | CA224837091 | MYO7A | c.1954T>A (p.Cys652Ser) c.19T>A (p.Cys7Ser) c.1921T>A (p.Cys641Ser) c.1723T>A (p.Cys575Ser) c.1696T>A (p.Cys566Ser) n.2274T>A n.2276T>A c.2044T>A (p.Cys682Ser) c.1813T>A (p.Cys605Ser) n.2059T>A | dbSNP |
11 | g.77174774T>C | CA381939133 | MYO7A | c.1954T>C (p.Cys652Arg) c.19T>C (p.Cys7Arg) c.1921T>C (p.Cys641Arg) c.1723T>C (p.Cys575Arg) c.1696T>C (p.Cys566Arg) n.2274T>C n.2276T>C c.2044T>C (p.Cys682Arg) c.1813T>C (p.Cys605Arg) n.2059T>C | ClinVar |
11 | g.77174774T>G | CA381939135 | MYO7A | c.1954T>G (p.Cys652Gly) c.19T>G (p.Cys7Gly) c.1921T>G (p.Cys641Gly) c.1723T>G (p.Cys575Gly) c.1696T>G (p.Cys566Gly) n.2274T>G n.2276T>G c.2044T>G (p.Cys682Gly) c.1813T>G (p.Cys605Gly) n.2059T>G | |
11 | g.77174774T= | CA1984113538 | MYO7A | c.1954T= (p.Cys652=) c.19T= (p.Cys7=) c.1921T= (p.Cys641=) c.1723T= (p.Cys575=) c.1696T= (p.Cys566=) n.2274T= n.2276T= c.2044T= (p.Cys682=) c.1813T= (p.Cys605=) n.2059T= | |
11 | g.77174775G>A | CA381939137 | MYO7A | c.1955G>A (p.Cys652Tyr) c.20G>A (p.Cys7Tyr) c.1922G>A (p.Cys641Tyr) c.1724G>A (p.Cys575Tyr) c.1697G>A (p.Cys566Tyr) n.2275G>A n.2277G>A c.2045G>A (p.Cys682Tyr) c.1814G>A (p.Cys605Tyr) n.2060G>A | dbSNP |
11 | g.77174775G>C | CA381939138 | MYO7A | c.1955G>C (p.Cys652Ser) c.20G>C (p.Cys7Ser) c.1922G>C (p.Cys641Ser) c.1724G>C (p.Cys575Ser) c.1697G>C (p.Cys566Ser) n.2275G>C n.2277G>C c.2045G>C (p.Cys682Ser) c.1814G>C (p.Cys605Ser) n.2060G>C | |
11 | g.77174775G= | CA1984113541 | MYO7A | c.1955G= (p.Cys652=) c.20G= (p.Cys7=) c.1922G= (p.Cys641=) c.1724G= (p.Cys575=) c.1697G= (p.Cys566=) n.2275G= n.2277G= c.2045G= (p.Cys682=) c.1814G= (p.Cys605=) n.2060G= | |
11 | g.77174775G>T | CA381939139 | MYO7A | c.1955G>T (p.Cys652Phe) c.20G>T (p.Cys7Phe) c.1922G>T (p.Cys641Phe) c.1724G>T (p.Cys575Phe) c.1697G>T (p.Cys566Phe) n.2275G>T n.2277G>T c.2045G>T (p.Cys682Phe) c.1814G>T (p.Cys605Phe) n.2060G>T | gnomAD v4 |
11 | g.77174776C>A | CA381939141 | MYO7A | c.1956C>A (p.Cys652Ter) c.21C>A (p.Cys7Ter) c.1923C>A (p.Cys641Ter) c.1725C>A (p.Cys575Ter) c.1698C>A (p.Cys566Ter) n.2276C>A n.2278C>A c.2046C>A (p.Cys682Ter) c.1815C>A (p.Cys605Ter) n.2061C>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77174776C= | CA1984113545 | MYO7A | c.1956C= (p.Cys652=) c.21C= (p.Cys7=) c.1923C= (p.Cys641=) c.1725C= (p.Cys575=) c.1698C= (p.Cys566=) n.2276C= n.2278C= c.2046C= (p.Cys682=) c.1815C= (p.Cys605=) n.2061C= | |
11 | g.77174776C>G | CA381939140 | MYO7A | c.1956C>G (p.Cys652Trp) c.21C>G (p.Cys7Trp) c.1923C>G (p.Cys641Trp) c.1725C>G (p.Cys575Trp) c.1698C>G (p.Cys566Trp) n.2276C>G n.2278C>G c.2046C>G (p.Cys682Trp) c.1815C>G (p.Cys605Trp) n.2061C>G | gnomAD v4 |
11 | g.77174776C>T | CA132229 | MYO7A | c.1956C>T (p.Cys652=) c.21C>T (p.Cys7=) c.1923C>T (p.Cys641=) c.1725C>T (p.Cys575=) c.1698C>T (p.Cys566=) n.2276C>T n.2278C>T c.2046C>T (p.Cys682=) c.1815C>T (p.Cys605=) n.2061C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77174777G>A | CA6197653 | MYO7A | c.1957G>A (p.Val653Met) c.22G>A (p.Val8Met) c.1924G>A (p.Val642Met) c.1726G>A (p.Val576Met) c.1699G>A (p.Val567Met) n.2277G>A n.2279G>A c.2047G>A (p.Val683Met) c.1816G>A (p.Val606Met) n.2062G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77174777G>C | CA381939142 | MYO7A | c.1957G>C (p.Val653Leu) c.22G>C (p.Val8Leu) c.1924G>C (p.Val642Leu) c.1726G>C (p.Val576Leu) c.1699G>C (p.Val567Leu) n.2277G>C n.2279G>C c.2047G>C (p.Val683Leu) c.1816G>C (p.Val606Leu) n.2062G>C | |
11 | g.77174777G= | CA1984113552 | MYO7A | c.1957G= (p.Val653=) c.22G= (p.Val8=) c.1924G= (p.Val642=) c.1726G= (p.Val576=) c.1699G= (p.Val567=) n.2277G= n.2279G= c.2047G= (p.Val683=) c.1816G= (p.Val606=) n.2062G= | |
11 | g.77174777G>T | CA381939144 | MYO7A | c.1957G>T (p.Val653Leu) c.22G>T (p.Val8Leu) c.1924G>T (p.Val642Leu) c.1726G>T (p.Val576Leu) c.1699G>T (p.Val567Leu) n.2277G>T n.2279G>T c.2047G>T (p.Val683Leu) c.1816G>T (p.Val606Leu) n.2062G>T | |
11 | g.77174778T>A | CA224837094 | MYO7A | c.1958T>A (p.Val653Glu) c.23T>A (p.Val8Glu) c.1925T>A (p.Val642Glu) c.1727T>A (p.Val576Glu) c.1700T>A (p.Val567Glu) n.2278T>A n.2280T>A c.2048T>A (p.Val683Glu) c.1817T>A (p.Val606Glu) n.2063T>A | dbSNP |
11 | g.77174778T>C | CA381939146 | MYO7A | c.1958T>C (p.Val653Ala) c.23T>C (p.Val8Ala) c.1925T>C (p.Val642Ala) c.1727T>C (p.Val576Ala) c.1700T>C (p.Val567Ala) n.2278T>C n.2280T>C c.2048T>C (p.Val683Ala) c.1817T>C (p.Val606Ala) n.2063T>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.77174778T>G | CA381939148 | MYO7A | c.1958T>G (p.Val653Gly) c.23T>G (p.Val8Gly) c.1925T>G (p.Val642Gly) c.1727T>G (p.Val576Gly) c.1700T>G (p.Val567Gly) n.2278T>G n.2280T>G c.2048T>G (p.Val683Gly) c.1817T>G (p.Val606Gly) n.2063T>G | |
11 | g.77174778T= | CA1984113561 | MYO7A | c.1958T= (p.Val653=) c.23T= (p.Val8=) c.1925T= (p.Val642=) c.1727T= (p.Val576=) c.1700T= (p.Val567=) n.2278T= n.2280T= c.2048T= (p.Val683=) c.1817T= (p.Val606=) n.2063T= | |
11 | g.77174779del | CA2695215034 | MYO7A | c.1959del (p.Arg654AlafsTer8) c.24del (p.Arg9AlafsTer8) c.1926del (p.Arg643AlafsTer8) c.1728del (p.Arg577AlafsTer8) c.1701del (p.Arg568AlafsTer8) n.2279del n.2281del c.2049del (p.Arg684AlafsTer8) c.1818del (p.Arg607AlafsTer8) n.2064del | |
11 | g.77174779G>A | CA475794530 | MYO7A | c.1959G>A (p.Val653=) c.24G>A (p.Val8=) c.1926G>A (p.Val642=) c.1728G>A (p.Val576=) c.1701G>A (p.Val567=) n.2279G>A n.2281G>A c.2049G>A (p.Val683=) c.1818G>A (p.Val606=) n.2064G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.77174779G>C | CA475794532 | MYO7A | c.1959G>C (p.Val653=) c.24G>C (p.Val8=) c.1926G>C (p.Val642=) c.1728G>C (p.Val576=) c.1701G>C (p.Val567=) n.2279G>C n.2281G>C c.2049G>C (p.Val683=) c.1818G>C (p.Val606=) n.2064G>C | |
11 | g.77174779G= | CA1984113564 | MYO7A | c.1959G= (p.Val653=) c.24G= (p.Val8=) c.1926G= (p.Val642=) c.1728G= (p.Val576=) c.1701G= (p.Val567=) n.2279G= n.2281G= c.2049G= (p.Val683=) c.1818G= (p.Val606=) n.2064G= | |
11 | g.77174779G>T | CA475794531 | MYO7A | c.1959G>T (p.Val653=) c.24G>T (p.Val8=) c.1926G>T (p.Val642=) c.1728G>T (p.Val576=) c.1701G>T (p.Val567=) n.2279G>T n.2281G>T c.2049G>T (p.Val683=) c.1818G>T (p.Val606=) n.2064G>T | |
11 | g.77174780C>A | CA381939149 | MYO7A | c.1960C>A (p.Arg654Ser) c.25C>A (p.Arg9Ser) c.1927C>A (p.Arg643Ser) c.1729C>A (p.Arg577Ser) c.1702C>A (p.Arg568Ser) n.2280C>A n.2282C>A c.2050C>A (p.Arg684Ser) c.1819C>A (p.Arg607Ser) n.2065C>A | gnomAD v4 |
11 | g.77174780C= | CA1984113569 | MYO7A | c.1960C= (p.Arg654=) c.25C= (p.Arg9=) c.1927C= (p.Arg643=) c.1729C= (p.Arg577=) c.1702C= (p.Arg568=) n.2280C= n.2282C= c.2050C= (p.Arg684=) c.1819C= (p.Arg607=) n.2065C= | |
11 | g.77174780C>G | CA381939151 | MYO7A | c.1960C>G (p.Arg654Gly) c.25C>G (p.Arg9Gly) c.1927C>G (p.Arg643Gly) c.1729C>G (p.Arg577Gly) c.1702C>G (p.Arg568Gly) n.2280C>G n.2282C>G c.2050C>G (p.Arg684Gly) c.1819C>G (p.Arg607Gly) n.2065C>G | |
11 | g.77174780C>T | CA6197654 | MYO7A | c.1960C>T (p.Arg654Cys) c.25C>T (p.Arg9Cys) c.1927C>T (p.Arg643Cys) c.1729C>T (p.Arg577Cys) c.1702C>T (p.Arg568Cys) n.2280C>T n.2282C>T c.2050C>T (p.Arg684Cys) c.1819C>T (p.Arg607Cys) n.2065C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77174781G>A | CA6197655 | MYO7A | c.1961G>A (p.Arg654His) c.26G>A (p.Arg9His) c.1928G>A (p.Arg643His) c.1730G>A (p.Arg577His) c.1703G>A (p.Arg568His) n.2281G>A n.2283G>A c.2051G>A (p.Arg684His) c.1820G>A (p.Arg607His) n.2066G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.77174781G>C | CA381939153 | MYO7A | c.1961G>C (p.Arg654Pro) c.26G>C (p.Arg9Pro) c.1928G>C (p.Arg643Pro) c.1730G>C (p.Arg577Pro) c.1703G>C (p.Arg568Pro) n.2281G>C n.2283G>C c.2051G>C (p.Arg684Pro) c.1820G>C (p.Arg607Pro) n.2066G>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.77174781G= | CA1984113582 | MYO7A | c.1961G= (p.Arg654=) c.26G= (p.Arg9=) c.1928G= (p.Arg643=) c.1730G= (p.Arg577=) c.1703G= (p.Arg568=) n.2281G= n.2283G= c.2051G= (p.Arg684=) c.1820G= (p.Arg607=) n.2066G= | |
11 | g.77174781G>T | CA381939154 | MYO7A | c.1961G>T (p.Arg654Leu) c.26G>T (p.Arg9Leu) c.1928G>T (p.Arg643Leu) c.1730G>T (p.Arg577Leu) c.1703G>T (p.Arg568Leu) n.2281G>T n.2283G>T c.2051G>T (p.Arg684Leu) c.1820G>T (p.Arg607Leu) n.2066G>T | |
11 | g.77174782C>A | CA475794533 | MYO7A | c.1962C>A (p.Arg654=) c.27C>A (p.Arg9=) c.1929C>A (p.Arg643=) c.1731C>A (p.Arg577=) c.1704C>A (p.Arg568=) n.2282C>A n.2284C>A c.2052C>A (p.Arg684=) c.1821C>A (p.Arg607=) n.2067C>A | |
11 | g.77174782C>G | CA475794534 | MYO7A | c.1962C>G (p.Arg654=) c.27C>G (p.Arg9=) c.1929C>G (p.Arg643=) c.1731C>G (p.Arg577=) c.1704C>G (p.Arg568=) n.2282C>G n.2284C>G c.2052C>G (p.Arg684=) c.1821C>G (p.Arg607=) n.2067C>G | |
11 | g.77174782C>T | CA475794535 | MYO7A | c.1962C>T (p.Arg654=) c.27C>T (p.Arg9=) c.1929C>T (p.Arg643=) c.1731C>T (p.Arg577=) c.1704C>T (p.Arg568=) n.2282C>T n.2284C>T c.2052C>T (p.Arg684=) c.1821C>T (p.Arg607=) n.2067C>T | |
11 | g.77174783C>A | CA381939158 | MYO7A | c.1963C>A (p.Gln655Lys) c.28C>A (p.Gln10Lys) c.1930C>A (p.Gln644Lys) c.1732C>A (p.Gln578Lys) c.1705C>A (p.Gln569Lys) n.2283C>A n.2285C>A c.2053C>A (p.Gln685Lys) c.1822C>A (p.Gln608Lys) n.2068C>A | |
11 | g.77174783C= | CA1984113590 | MYO7A | c.1963C= (p.Gln655=) c.28C= (p.Gln10=) c.1930C= (p.Gln644=) c.1732C= (p.Gln578=) c.1705C= (p.Gln569=) n.2283C= n.2285C= c.2053C= (p.Gln685=) c.1822C= (p.Gln608=) n.2068C= | |
11 | g.77174783C>G | CA381939156 | MYO7A | c.1963C>G (p.Gln655Glu) c.28C>G (p.Gln10Glu) c.1930C>G (p.Gln644Glu) c.1732C>G (p.Gln578Glu) c.1705C>G (p.Gln569Glu) n.2283C>G n.2285C>G c.2053C>G (p.Gln685Glu) c.1822C>G (p.Gln608Glu) n.2068C>G | |
11 | g.77174783C>T | CA278638 | MYO7A | c.1963C>T (p.Gln655Ter) c.28C>T (p.Gln10Ter) c.1930C>T (p.Gln644Ter) c.1732C>T (p.Gln578Ter) c.1705C>T (p.Gln569Ter) n.2283C>T n.2285C>T c.2053C>T (p.Gln685Ter) c.1822C>T (p.Gln608Ter) n.2068C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77174784A= | CA1984113596 | MYO7A | c.1964A= (p.Gln655=) c.29A= (p.Gln10=) c.1931A= (p.Gln644=) c.1733A= (p.Gln578=) c.1706A= (p.Gln569=) n.2284A= n.2286A= c.2054A= (p.Gln685=) c.1823A= (p.Gln608=) n.2069A= | |
11 | g.77174784A>C | CA381939159 | MYO7A | c.1964A>C (p.Gln655Pro) c.29A>C (p.Gln10Pro) c.1931A>C (p.Gln644Pro) c.1733A>C (p.Gln578Pro) c.1706A>C (p.Gln569Pro) n.2284A>C n.2286A>C c.2054A>C (p.Gln685Pro) c.1823A>C (p.Gln608Pro) n.2069A>C | |
11 | g.77174784A>G | CA381939162 | MYO7A | c.1964A>G (p.Gln655Arg) c.29A>G (p.Gln10Arg) c.1931A>G (p.Gln644Arg) c.1733A>G (p.Gln578Arg) c.1706A>G (p.Gln569Arg) n.2284A>G n.2286A>G c.2054A>G (p.Gln685Arg) c.1823A>G (p.Gln608Arg) n.2069A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.77174784A>T | CA381939161 | MYO7A | c.1964A>T (p.Gln655Leu) c.29A>T (p.Gln10Leu) c.1931A>T (p.Gln644Leu) c.1733A>T (p.Gln578Leu) c.1706A>T (p.Gln569Leu) n.2284A>T n.2286A>T c.2054A>T (p.Gln685Leu) c.1823A>T (p.Gln608Leu) n.2069A>T | |
11 | g.77174785G>A | CA475794536 | MYO7A | c.1965G>A (p.Gln655=) c.30G>A (p.Gln10=) c.1932G>A (p.Gln644=) c.1734G>A (p.Gln578=) c.1707G>A (p.Gln569=) n.2285G>A n.2287G>A c.2055G>A (p.Gln685=) c.1824G>A (p.Gln608=) n.2070G>A | |
11 | g.77174785G>C | CA381939164 | MYO7A | c.1965G>C (p.Gln655His) c.30G>C (p.Gln10His) c.1932G>C (p.Gln644His) c.1734G>C (p.Gln578His) c.1707G>C (p.Gln569His) n.2285G>C n.2287G>C c.2055G>C (p.Gln685His) c.1824G>C (p.Gln608His) n.2070G>C | |
11 | g.77174785G>T | CA381939166 | MYO7A | c.1965G>T (p.Gln655His) c.30G>T (p.Gln10His) c.1932G>T (p.Gln644His) c.1734G>T (p.Gln578His) c.1707G>T (p.Gln569His) n.2285G>T n.2287G>T c.2055G>T (p.Gln685His) c.1824G>T (p.Gln608His) n.2070G>T | |
11 | g.77174786C>A | CA381939167 | MYO7A | c.1966C>A (p.Leu656Met) c.31C>A (p.Leu11Met) c.1933C>A (p.Leu645Met) c.1735C>A (p.Leu579Met) c.1708C>A (p.Leu570Met) n.2286C>A n.2288C>A c.2056C>A (p.Leu686Met) c.1825C>A (p.Leu609Met) n.2071C>A | |
11 | g.77174786C>G | CA381939168 | MYO7A | c.1966C>G (p.Leu656Val) c.31C>G (p.Leu11Val) c.1933C>G (p.Leu645Val) c.1735C>G (p.Leu579Val) c.1708C>G (p.Leu570Val) n.2286C>G n.2288C>G c.2056C>G (p.Leu686Val) c.1825C>G (p.Leu609Val) n.2071C>G | |
11 | g.77174786C>T | CA475794537 | MYO7A | c.1966C>T (p.Leu656=) c.31C>T (p.Leu11=) c.1933C>T (p.Leu645=) c.1735C>T (p.Leu579=) c.1708C>T (p.Leu570=) n.2286C>T n.2288C>T c.2056C>T (p.Leu686=) c.1825C>T (p.Leu609=) n.2071C>T | |
11 | g.77174786_77174787del | CA2838267882 | MYO7A | c.1966_1967del (p.Leu656AlafsTer?) c.31_32del (p.Leu11AlafsTer?) c.1933_1934del (p.Leu645AlafsTer?) c.1735_1736del (p.Leu579AlafsTer?) c.1708_1709del (p.Leu570AlafsTer?) n.2286_2287del n.2288_2289del c.2056_2057del (p.Leu686AlafsTer?) c.1825_1826del (p.Leu609AlafsTer?) n.2071_2072del | |
11 | g.77174787T>A | CA381939170 | MYO7A | c.1967T>A (p.Leu656Gln) c.32T>A (p.Leu11Gln) c.1934T>A (p.Leu645Gln) c.1736T>A (p.Leu579Gln) c.1709T>A (p.Leu570Gln) n.2287T>A n.2289T>A c.2057T>A (p.Leu686Gln) c.1826T>A (p.Leu609Gln) n.2072T>A | |
11 | g.77174787T>C | CA381939172 | MYO7A | c.1967T>C (p.Leu656Pro) c.32T>C (p.Leu11Pro) c.1934T>C (p.Leu645Pro) c.1736T>C (p.Leu579Pro) c.1709T>C (p.Leu570Pro) n.2287T>C n.2289T>C c.2057T>C (p.Leu686Pro) c.1826T>C (p.Leu609Pro) n.2072T>C | |
11 | g.77174787T>G | CA381939174 | MYO7A | c.1967T>G (p.Leu656Arg) c.32T>G (p.Leu11Arg) c.1934T>G (p.Leu645Arg) c.1736T>G (p.Leu579Arg) c.1709T>G (p.Leu570Arg) n.2287T>G n.2289T>G c.2057T>G (p.Leu686Arg) c.1826T>G (p.Leu609Arg) n.2072T>G | |
11 | g.77174787_77174790del | CA2792769265 | MYO7A | c.1967_1970del (p.Leu656ArgfsTer5) c.32_35del (p.Leu11ArgfsTer5) c.1934_1937del (p.Leu645ArgfsTer5) c.1736_1739del (p.Leu579ArgfsTer5) c.1709_1712del (p.Leu570ArgfsTer5) n.2287_2290del n.2289_2292del c.2057_2060del (p.Leu686ArgfsTer5) c.1826_1829del (p.Leu609ArgfsTer5) n.2072_2075del | |
11 | g.77174788G>A | CA475794538 | MYO7A | c.1968G>A (p.Leu656=) c.33G>A (p.Leu11=) c.1935G>A (p.Leu645=) c.1737G>A (p.Leu579=) c.1710G>A (p.Leu570=) n.2288G>A n.2290G>A c.2058G>A (p.Leu686=) c.1827G>A (p.Leu609=) n.2073G>A | |
11 | g.77174788G>C | CA475794539 | MYO7A | c.1968G>C (p.Leu656=) c.33G>C (p.Leu11=) c.1935G>C (p.Leu645=) c.1737G>C (p.Leu579=) c.1710G>C (p.Leu570=) n.2288G>C n.2290G>C c.2058G>C (p.Leu686=) c.1827G>C (p.Leu609=) n.2073G>C | |
11 | g.77174788G>T | CA475794540 | MYO7A | c.1968G>T (p.Leu656=) c.33G>T (p.Leu11=) c.1935G>T (p.Leu645=) c.1737G>T (p.Leu579=) c.1710G>T (p.Leu570=) n.2288G>T n.2290G>T c.2058G>T (p.Leu686=) c.1827G>T (p.Leu609=) n.2073G>T | gnomAD v4 |
11 | g.77174789C>A | CA475794541 | MYO7A | c.1969C>A (p.Arg657=) c.34C>A (p.Arg12=) c.1936C>A (p.Arg646=) c.1738C>A (p.Arg580=) c.1711C>A (p.Arg571=) n.2289C>A n.2291C>A c.2059C>A (p.Arg687=) c.1828C>A (p.Arg610=) n.2074C>A | |
11 | g.77174789C= | CA1984113606 | MYO7A | c.1969C= (p.Arg657=) c.34C= (p.Arg12=) c.1936C= (p.Arg646=) c.1738C= (p.Arg580=) c.1711C= (p.Arg571=) n.2289C= n.2291C= c.2059C= (p.Arg687=) c.1828C= (p.Arg610=) n.2074C= | |
11 | g.77174789C>G | CA381939175 | MYO7A | c.1969C>G (p.Arg657Gly) c.34C>G (p.Arg12Gly) c.1936C>G (p.Arg646Gly) c.1738C>G (p.Arg580Gly) c.1711C>G (p.Arg571Gly) n.2289C>G n.2291C>G c.2059C>G (p.Arg687Gly) c.1828C>G (p.Arg610Gly) n.2074C>G | |
11 | g.77174789C>T | CA16616838 | MYO7A | c.1969C>T (p.Arg657Trp) c.34C>T (p.Arg12Trp) c.1936C>T (p.Arg646Trp) c.1738C>T (p.Arg580Trp) c.1711C>T (p.Arg571Trp) n.2289C>T n.2291C>T c.2059C>T (p.Arg687Trp) c.1828C>T (p.Arg610Trp) n.2074C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.77174790G>A | CA6197656 | MYO7A | c.1970G>A (p.Arg657Gln) c.35G>A (p.Arg12Gln) c.1937G>A (p.Arg646Gln) c.1739G>A (p.Arg580Gln) c.1712G>A (p.Arg571Gln) n.2290G>A n.2292G>A c.2060G>A (p.Arg687Gln) c.1829G>A (p.Arg610Gln) n.2075G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77174790G>C | CA381939178 | MYO7A | c.1970G>C (p.Arg657Pro) c.35G>C (p.Arg12Pro) c.1937G>C (p.Arg646Pro) c.1739G>C (p.Arg580Pro) c.1712G>C (p.Arg571Pro) n.2290G>C n.2292G>C c.2060G>C (p.Arg687Pro) c.1829G>C (p.Arg610Pro) n.2075G>C | |
11 | g.77174790G= | CA1984113618 | MYO7A | c.1970G= (p.Arg657=) c.35G= (p.Arg12=) c.1937G= (p.Arg646=) c.1739G= (p.Arg580=) c.1712G= (p.Arg571=) n.2290G= n.2292G= c.2060G= (p.Arg687=) c.1829G= (p.Arg610=) n.2075G= | |
11 | g.77174790G>T | CA381939180 | MYO7A | c.1970G>T (p.Arg657Leu) c.35G>T (p.Arg12Leu) c.1937G>T (p.Arg646Leu) c.1739G>T (p.Arg580Leu) c.1712G>T (p.Arg571Leu) n.2290G>T n.2292G>T c.2060G>T (p.Arg687Leu) c.1829G>T (p.Arg610Leu) n.2075G>T | |
11 | g.77174791G>A | CA475794542 | MYO7A | c.1971G>A (p.Arg657=) c.36G>A (p.Arg12=) c.1938G>A (p.Arg646=) c.1740G>A (p.Arg580=) c.1713G>A (p.Arg571=) n.2291G>A n.2293G>A c.2061G>A (p.Arg687=) c.1830G>A (p.Arg610=) n.2076G>A | ClinVar dbSNP gnomAD v4 |
11 | g.77174791G>C | CA475794543 | MYO7A | c.1971G>C (p.Arg657=) c.36G>C (p.Arg12=) c.1938G>C (p.Arg646=) c.1740G>C (p.Arg580=) c.1713G>C (p.Arg571=) n.2291G>C n.2293G>C c.2061G>C (p.Arg687=) c.1830G>C (p.Arg610=) n.2076G>C | |
11 | g.77174791G= | CA1984113624 | MYO7A | c.1971G= (p.Arg657=) c.36G= (p.Arg12=) c.1938G= (p.Arg646=) c.1740G= (p.Arg580=) c.1713G= (p.Arg571=) n.2291G= n.2293G= c.2061G= (p.Arg687=) c.1830G= (p.Arg610=) n.2076G= | |
11 | g.77174791G>T | CA475794544 | MYO7A | c.1971G>T (p.Arg657=) c.36G>T (p.Arg12=) c.1938G>T (p.Arg646=) c.1740G>T (p.Arg580=) c.1713G>T (p.Arg571=) n.2291G>T n.2293G>T c.2061G>T (p.Arg687=) c.1830G>T (p.Arg610=) n.2076G>T | |
11 | g.77174792T>A | CA381939185 | MYO7A | c.1972T>A (p.Tyr658Asn) c.37T>A (p.Tyr13Asn) c.1939T>A (p.Tyr647Asn) c.1741T>A (p.Tyr581Asn) c.1714T>A (p.Tyr572Asn) n.2292T>A n.2294T>A c.2062T>A (p.Tyr688Asn) c.1831T>A (p.Tyr611Asn) n.2077T>A | |
11 | g.77174792T>C | CA381939181 | MYO7A | c.1972T>C (p.Tyr658His) c.37T>C (p.Tyr13His) c.1939T>C (p.Tyr647His) c.1741T>C (p.Tyr581His) c.1714T>C (p.Tyr572His) n.2292T>C n.2294T>C c.2062T>C (p.Tyr688His) c.1831T>C (p.Tyr611His) n.2077T>C | |
11 | g.77174792T>G | CA381939183 | MYO7A | c.1972T>G (p.Tyr658Asp) c.37T>G (p.Tyr13Asp) c.1939T>G (p.Tyr647Asp) c.1741T>G (p.Tyr581Asp) c.1714T>G (p.Tyr572Asp) n.2292T>G n.2294T>G c.2062T>G (p.Tyr688Asp) c.1831T>G (p.Tyr611Asp) n.2077T>G | |
11 | g.77174793del | CA2838032846 | MYO7A | c.1973del (p.Tyr658SerfsTer4) c.38del (p.Tyr13SerfsTer4) c.1940del (p.Tyr647SerfsTer4) c.1742del (p.Tyr581SerfsTer4) c.1715del (p.Tyr572SerfsTer4) n.2293del n.2295del c.2063del (p.Tyr688SerfsTer4) c.1832del (p.Tyr611SerfsTer4) n.2078del | |
11 | g.77174793A>C | CA381939186 | MYO7A | c.1973A>C (p.Tyr658Ser) c.38A>C (p.Tyr13Ser) c.1940A>C (p.Tyr647Ser) c.1742A>C (p.Tyr581Ser) c.1715A>C (p.Tyr572Ser) n.2293A>C n.2295A>C c.2063A>C (p.Tyr688Ser) c.1832A>C (p.Tyr611Ser) n.2078A>C | |
11 | g.77174793A>G | CA381939187 | MYO7A | c.1973A>G (p.Tyr658Cys) c.38A>G (p.Tyr13Cys) c.1940A>G (p.Tyr647Cys) c.1742A>G (p.Tyr581Cys) c.1715A>G (p.Tyr572Cys) n.2293A>G n.2295A>G c.2063A>G (p.Tyr688Cys) c.1832A>G (p.Tyr611Cys) n.2078A>G | |
11 | g.77174793A>T | CA381939189 | MYO7A | c.1973A>T (p.Tyr658Phe) c.38A>T (p.Tyr13Phe) c.1940A>T (p.Tyr647Phe) c.1742A>T (p.Tyr581Phe) c.1715A>T (p.Tyr572Phe) n.2293A>T n.2295A>T c.2063A>T (p.Tyr688Phe) c.1832A>T (p.Tyr611Phe) n.2078A>T | |
11 | g.77174794C>A | CA381939191 | MYO7A | c.1974C>A (p.Tyr658Ter) c.39C>A (p.Tyr13Ter) c.1941C>A (p.Tyr647Ter) c.1743C>A (p.Tyr581Ter) c.1716C>A (p.Tyr572Ter) n.2294C>A n.2296C>A c.2064C>A (p.Tyr688Ter) c.1833C>A (p.Tyr611Ter) n.2079C>A | ClinVar dbSNP gnomAD v4 |
11 | g.77174794C= | CA1984113628 | MYO7A | c.1974C= (p.Tyr658=) c.39C= (p.Tyr13=) c.1941C= (p.Tyr647=) c.1743C= (p.Tyr581=) c.1716C= (p.Tyr572=) n.2294C= n.2296C= c.2064C= (p.Tyr688=) c.1833C= (p.Tyr611=) n.2079C= | |
11 | g.77174794C>G | CA381939192 | MYO7A | c.1974C>G (p.Tyr658Ter) c.39C>G (p.Tyr13Ter) c.1941C>G (p.Tyr647Ter) c.1743C>G (p.Tyr581Ter) c.1716C>G (p.Tyr572Ter) n.2294C>G n.2296C>G c.2064C>G (p.Tyr688Ter) c.1833C>G (p.Tyr611Ter) n.2079C>G | ClinVar |
11 | g.77174794C>T | CA475794545 | MYO7A | c.1974C>T (p.Tyr658=) c.39C>T (p.Tyr13=) c.1941C>T (p.Tyr647=) c.1743C>T (p.Tyr581=) c.1716C>T (p.Tyr572=) n.2294C>T n.2296C>T c.2064C>T (p.Tyr688=) c.1833C>T (p.Tyr611=) n.2079C>T | dbSNP |
11 | g.77174795T>A | CA381939194 | MYO7A | c.1975T>A (p.Ser659Thr) c.40T>A (p.Ser14Thr) c.1942T>A (p.Ser648Thr) c.1744T>A (p.Ser582Thr) c.1717T>A (p.Ser573Thr) n.2295T>A n.2297T>A c.2065T>A (p.Ser689Thr) c.1834T>A (p.Ser612Thr) n.2080T>A | |
11 | g.77174795T>C | CA381939195 | MYO7A | c.1975T>C (p.Ser659Pro) c.40T>C (p.Ser14Pro) c.1942T>C (p.Ser648Pro) c.1744T>C (p.Ser582Pro) c.1717T>C (p.Ser573Pro) n.2295T>C n.2297T>C c.2065T>C (p.Ser689Pro) c.1834T>C (p.Ser612Pro) n.2080T>C | |
11 | g.77174795T>G | CA381939197 | MYO7A | c.1975T>G (p.Ser659Ala) c.40T>G (p.Ser14Ala) c.1942T>G (p.Ser648Ala) c.1744T>G (p.Ser582Ala) c.1717T>G (p.Ser573Ala) n.2295T>G n.2297T>G c.2065T>G (p.Ser689Ala) c.1834T>G (p.Ser612Ala) n.2080T>G | |
11 | g.77174796C>A | CA10581681 | MYO7A | c.1976C>A (p.Ser659Ter) c.41C>A (p.Ser14Ter) c.1943C>A (p.Ser648Ter) c.1745C>A (p.Ser582Ter) c.1718C>A (p.Ser573Ter) n.2296C>A n.2298C>A c.2066C>A (p.Ser689Ter) c.1835C>A (p.Ser612Ter) n.2081C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.77174796C= | CA1984113639 | MYO7A | c.1976C= (p.Ser659=) c.41C= (p.Ser14=) c.1943C= (p.Ser648=) c.1745C= (p.Ser582=) c.1718C= (p.Ser573=) n.2296C= n.2298C= c.2066C= (p.Ser689=) c.1835C= (p.Ser612=) n.2081C= | |
11 | g.77174796C>G | CA381939199 | MYO7A | c.1976C>G (p.Ser659Ter) c.41C>G (p.Ser14Ter) c.1943C>G (p.Ser648Ter) c.1745C>G (p.Ser582Ter) c.1718C>G (p.Ser573Ter) n.2296C>G n.2298C>G c.2066C>G (p.Ser689Ter) c.1835C>G (p.Ser612Ter) n.2081C>G | |
11 | g.77174796C>T | CA381939201 | MYO7A | c.1976C>T (p.Ser659Leu) c.41C>T (p.Ser14Leu) c.1943C>T (p.Ser648Leu) c.1745C>T (p.Ser582Leu) c.1718C>T (p.Ser573Leu) n.2296C>T n.2298C>T c.2066C>T (p.Ser689Leu) c.1835C>T (p.Ser612Leu) n.2081C>T | |
11 | g.77174796_77174797delinsCA | CA1984113644 | MYO7A | c.1976_1977delinsCA (p.Ser659=) c.41_42delinsCA (p.Ser14=) c.1943_1944delinsCA (p.Ser648=) c.1745_1746delinsCA (p.Ser582=) c.1718_1719delinsCA (p.Ser573=) n.2296_2297delinsCA n.2298_2299delinsCA c.2066_2067delinsCA (p.Ser689=) c.1835_1836delinsCA (p.Ser612=) n.2081_2082delinsCA | |
11 | g.77174797del | CA645509493 | MYO7A | c.1977del (p.Gly660GlufsTer2) c.42del (p.Gly15GlufsTer2) c.1944del (p.Gly649GlufsTer2) c.1746del (p.Gly583GlufsTer2) c.1719del (p.Gly574GlufsTer2) n.2297del n.2299del c.2067del (p.Gly690GlufsTer2) c.1836del (p.Gly613GlufsTer2) n.2082del | ClinVar dbSNP |
11 | g.77174797A= | CA1984113654 | MYO7A | c.1977A= (p.Ser659=) c.42A= (p.Ser14=) c.1944A= (p.Ser648=) c.1746A= (p.Ser582=) c.1719A= (p.Ser573=) n.2297A= n.2299A= c.2067A= (p.Ser689=) c.1836A= (p.Ser612=) n.2082A= | |
11 | g.77174797A>C | CA475794546 | MYO7A | c.1977A>C (p.Ser659=) c.42A>C (p.Ser14=) c.1944A>C (p.Ser648=) c.1746A>C (p.Ser582=) c.1719A>C (p.Ser573=) n.2297A>C n.2299A>C c.2067A>C (p.Ser689=) c.1836A>C (p.Ser612=) n.2082A>C | |
11 | g.77174797A>G | CA475794547 | MYO7A | c.1977A>G (p.Ser659=) c.42A>G (p.Ser14=) c.1944A>G (p.Ser648=) c.1746A>G (p.Ser582=) c.1719A>G (p.Ser573=) n.2297A>G n.2299A>G c.2067A>G (p.Ser689=) c.1836A>G (p.Ser612=) n.2082A>G | dbSNP gnomAD v2 |
11 | g.77174797A>T | CA475794548 | MYO7A | c.1977A>T (p.Ser659=) c.42A>T (p.Ser14=) c.1944A>T (p.Ser648=) c.1746A>T (p.Ser582=) c.1719A>T (p.Ser573=) n.2297A>T n.2299A>T c.2067A>T (p.Ser689=) c.1836A>T (p.Ser612=) n.2082A>T | |
11 | g.77174797_77174798del | CA2574931094 | MYO7A | c.1977_1978del (p.Gly660AsnfsTer?) c.42_43del (p.Gly15AsnfsTer?) c.1944_1945del (p.Gly649AsnfsTer?) c.1746_1747del (p.Gly583AsnfsTer?) c.1719_1720del (p.Gly574AsnfsTer?) n.2297_2298del n.2299_2300del c.2067_2068del (p.Gly690AsnfsTer?) c.1836_1837del (p.Gly613AsnfsTer?) n.2082_2083del | |
11 | g.77174798G>A | CA381939206 | MYO7A | c.1978G>A (p.Gly660Arg) c.43G>A (p.Gly15Arg) c.1945G>A (p.Gly649Arg) c.1747G>A (p.Gly583Arg) c.1720G>A (p.Gly574Arg) n.2298G>A n.2300G>A c.2068G>A (p.Gly690Arg) c.1837G>A (p.Gly613Arg) n.2083G>A | COSMIC |
11 | g.77174798G>C | CA381939204 | MYO7A | c.1978G>C (p.Gly660Arg) c.43G>C (p.Gly15Arg) c.1945G>C (p.Gly649Arg) c.1747G>C (p.Gly583Arg) c.1720G>C (p.Gly574Arg) n.2298G>C n.2300G>C c.2068G>C (p.Gly690Arg) c.1837G>C (p.Gly613Arg) n.2083G>C | |
11 | g.77174798G>T | CA381939203 | MYO7A | c.1978G>T (p.Gly660Ter) c.43G>T (p.Gly15Ter) c.1945G>T (p.Gly649Ter) c.1747G>T (p.Gly583Ter) c.1720G>T (p.Gly574Ter) n.2298G>T n.2300G>T c.2068G>T (p.Gly690Ter) c.1837G>T (p.Gly613Ter) n.2083G>T | |
11 | g.77174799G>A | CA381939211 | MYO7A | c.1979G>A (p.Gly660Glu) c.44G>A (p.Gly15Glu) c.1946G>A (p.Gly649Glu) c.1748G>A (p.Gly583Glu) c.1721G>A (p.Gly574Glu) n.2299G>A n.2301G>A c.2069G>A (p.Gly690Glu) c.1838G>A (p.Gly613Glu) n.2084G>A | |
11 | g.77174799G>C | CA381939208 | MYO7A | c.1979G>C (p.Gly660Ala) c.44G>C (p.Gly15Ala) c.1946G>C (p.Gly649Ala) c.1748G>C (p.Gly583Ala) c.1721G>C (p.Gly574Ala) n.2299G>C n.2301G>C c.2069G>C (p.Gly690Ala) c.1838G>C (p.Gly613Ala) n.2084G>C | gnomAD v4 |
11 | g.77174799G= | CA1984113660 | MYO7A | c.1979G= (p.Gly660=) c.44G= (p.Gly15=) c.1946G= (p.Gly649=) c.1748G= (p.Gly583=) c.1721G= (p.Gly574=) n.2299G= n.2301G= c.2069G= (p.Gly690=) c.1838G= (p.Gly613=) n.2084G= | |
11 | g.77174799G>T | CA381939209 | MYO7A | c.1979G>T (p.Gly660Val) c.44G>T (p.Gly15Val) c.1946G>T (p.Gly649Val) c.1748G>T (p.Gly583Val) c.1721G>T (p.Gly574Val) n.2299G>T n.2301G>T c.2069G>T (p.Gly690Val) c.1838G>T (p.Gly613Val) n.2084G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.77174800A>C | CA475794551 | MYO7A | c.1980A>C (p.Gly660=) c.45A>C (p.Gly15=) c.1947A>C (p.Gly649=) c.1749A>C (p.Gly583=) c.1722A>C (p.Gly574=) n.2300A>C n.2302A>C c.2070A>C (p.Gly690=) c.1839A>C (p.Gly613=) n.2085A>C | |
11 | g.77174800A>G | CA475794549 | MYO7A | c.1980A>G (p.Gly660=) c.45A>G (p.Gly15=) c.1947A>G (p.Gly649=) c.1749A>G (p.Gly583=) c.1722A>G (p.Gly574=) n.2300A>G n.2302A>G c.2070A>G (p.Gly690=) c.1839A>G (p.Gly613=) n.2085A>G | |
11 | g.77174800A>T | CA475794550 | MYO7A | c.1980A>T (p.Gly660=) c.45A>T (p.Gly15=) c.1947A>T (p.Gly649=) c.1749A>T (p.Gly583=) c.1722A>T (p.Gly574=) n.2300A>T n.2302A>T c.2070A>T (p.Gly690=) c.1839A>T (p.Gly613=) n.2085A>T | ClinVar |
11 | g.77174801A>C | CA381939212 | MYO7A | c.1981A>C (p.Met661Leu) c.46A>C (p.Met16Leu) c.1948A>C (p.Met650Leu) c.1750A>C (p.Met584Leu) c.1723A>C (p.Met575Leu) n.2301A>C n.2303A>C c.2071A>C (p.Met691Leu) c.1840A>C (p.Met614Leu) n.2086A>C | |
11 | g.77174801A>G | CA381939214 | MYO7A | c.1981A>G (p.Met661Val) c.46A>G (p.Met16Val) c.1948A>G (p.Met650Val) c.1750A>G (p.Met584Val) c.1723A>G (p.Met575Val) n.2301A>G n.2303A>G c.2071A>G (p.Met691Val) c.1840A>G (p.Met614Val) n.2086A>G | |
11 | g.77174801A>T | CA381939216 | MYO7A | c.1981A>T (p.Met661Leu) c.46A>T (p.Met16Leu) c.1948A>T (p.Met650Leu) c.1750A>T (p.Met584Leu) c.1723A>T (p.Met575Leu) n.2301A>T n.2303A>T c.2071A>T (p.Met691Leu) c.1840A>T (p.Met614Leu) n.2086A>T | |
11 | g.77174802T>A | CA381939220 | MYO7A | c.1982T>A (p.Met661Lys) c.47T>A (p.Met16Lys) c.1949T>A (p.Met650Lys) c.1751T>A (p.Met584Lys) c.1724T>A (p.Met575Lys) n.2302T>A n.2304T>A c.2072T>A (p.Met691Lys) c.1841T>A (p.Met614Lys) n.2087T>A | |
11 | g.77174802T>C | CA381939219 | MYO7A | c.1982T>C (p.Met661Thr) c.47T>C (p.Met16Thr) c.1949T>C (p.Met650Thr) c.1751T>C (p.Met584Thr) c.1724T>C (p.Met575Thr) n.2302T>C n.2304T>C c.2072T>C (p.Met691Thr) c.1841T>C (p.Met614Thr) n.2087T>C | |
11 | g.77174802T>G | CA381939218 | MYO7A | c.1982T>G (p.Met661Arg) c.47T>G (p.Met16Arg) c.1949T>G (p.Met650Arg) c.1751T>G (p.Met584Arg) c.1724T>G (p.Met575Arg) n.2302T>G n.2304T>G c.2072T>G (p.Met691Arg) c.1841T>G (p.Met614Arg) n.2087T>G | |
11 | g.77174803G>A | CA381939222 | MYO7A | c.1983G>A (p.Met661Ile) c.48G>A (p.Met16Ile) c.1950G>A (p.Met650Ile) c.1752G>A (p.Met584Ile) c.1725G>A (p.Met575Ile) n.2303G>A n.2305G>A c.2073G>A (p.Met691Ile) c.1842G>A (p.Met614Ile) n.2088G>A | |
11 | g.77174803G>C | CA381939224 | MYO7A | c.1983G>C (p.Met661Ile) c.48G>C (p.Met16Ile) c.1950G>C (p.Met650Ile) c.1752G>C (p.Met584Ile) c.1725G>C (p.Met575Ile) n.2303G>C n.2305G>C c.2073G>C (p.Met691Ile) c.1842G>C (p.Met614Ile) n.2088G>C | |
11 | g.77174803G>T | CA381939226 | MYO7A | c.1983G>T (p.Met661Ile) c.48G>T (p.Met16Ile) c.1950G>T (p.Met650Ile) c.1752G>T (p.Met584Ile) c.1725G>T (p.Met575Ile) n.2303G>T n.2305G>T c.2073G>T (p.Met691Ile) c.1842G>T (p.Met614Ile) n.2088G>T | |
11 | g.77174804A= | CA1984113673 | MYO7A | c.1984A= (p.Met662=) c.49A= (p.Met17=) c.1951A= (p.Met651=) c.1753A= (p.Met585=) c.1726A= (p.Met576=) n.2304A= n.2306A= c.2074A= (p.Met692=) c.1843A= (p.Met615=) n.2089A= | |
11 | g.77174804A>C | CA381939227 | MYO7A | c.1984A>C (p.Met662Leu) c.49A>C (p.Met17Leu) c.1951A>C (p.Met651Leu) c.1753A>C (p.Met585Leu) c.1726A>C (p.Met576Leu) n.2304A>C n.2306A>C c.2074A>C (p.Met692Leu) c.1843A>C (p.Met615Leu) n.2089A>C | |
11 | g.77174804A>G | CA381939228 | MYO7A | c.1984A>G (p.Met662Val) c.49A>G (p.Met17Val) c.1951A>G (p.Met651Val) c.1753A>G (p.Met585Val) c.1726A>G (p.Met576Val) n.2304A>G n.2306A>G c.2074A>G (p.Met692Val) c.1843A>G (p.Met615Val) n.2089A>G | |
11 | g.77174804A>T | CA6197657 | MYO7A | c.1984A>T (p.Met662Leu) c.49A>T (p.Met17Leu) c.1951A>T (p.Met651Leu) c.1753A>T (p.Met585Leu) c.1726A>T (p.Met576Leu) n.2304A>T n.2306A>T c.2074A>T (p.Met692Leu) c.1843A>T (p.Met615Leu) n.2089A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77174805T>A | CA381939230 | MYO7A | c.1985T>A (p.Met662Lys) c.50T>A (p.Met17Lys) c.1952T>A (p.Met651Lys) c.1754T>A (p.Met585Lys) c.1727T>A (p.Met576Lys) n.2305T>A n.2307T>A c.2075T>A (p.Met692Lys) c.1844T>A (p.Met615Lys) n.2090T>A | gnomAD v4 |
11 | g.77174805T>C | CA381939233 | MYO7A | c.1985T>C (p.Met662Thr) c.50T>C (p.Met17Thr) c.1952T>C (p.Met651Thr) c.1754T>C (p.Met585Thr) c.1727T>C (p.Met576Thr) n.2305T>C n.2307T>C c.2075T>C (p.Met692Thr) c.1844T>C (p.Met615Thr) n.2090T>C | |
11 | g.77174805T>G | CA381939231 | MYO7A | c.1985T>G (p.Met662Arg) c.50T>G (p.Met17Arg) c.1952T>G (p.Met651Arg) c.1754T>G (p.Met585Arg) c.1727T>G (p.Met576Arg) n.2305T>G n.2307T>G c.2075T>G (p.Met692Arg) c.1844T>G (p.Met615Arg) n.2090T>G | |
11 | g.77174806G>A | CA381939235 | MYO7A | c.1986G>A (p.Met662Ile) c.51G>A (p.Met17Ile) c.1953G>A (p.Met651Ile) c.1755G>A (p.Met585Ile) c.1728G>A (p.Met576Ile) n.2306G>A n.2308G>A c.2076G>A (p.Met692Ile) c.1845G>A (p.Met615Ile) n.2091G>A | |
11 | g.77174806G>C | CA381939236 | MYO7A | c.1986G>C (p.Met662Ile) c.51G>C (p.Met17Ile) c.1953G>C (p.Met651Ile) c.1755G>C (p.Met585Ile) c.1728G>C (p.Met576Ile) n.2306G>C n.2308G>C c.2076G>C (p.Met692Ile) c.1845G>C (p.Met615Ile) n.2091G>C | |
11 | g.77174806G>T | CA381939237 | MYO7A | c.1986G>T (p.Met662Ile) c.51G>T (p.Met17Ile) c.1953G>T (p.Met651Ile) c.1755G>T (p.Met585Ile) c.1728G>T (p.Met576Ile) n.2306G>T n.2308G>T c.2076G>T (p.Met692Ile) c.1845G>T (p.Met615Ile) n.2091G>T | |
11 | g.77174807G>A | CA381939239 | MYO7A | c.1987G>A (p.Glu663Lys) c.52G>A (p.Glu18Lys) c.1954G>A (p.Glu652Lys) c.1756G>A (p.Glu586Lys) c.1729G>A (p.Glu577Lys) n.2307G>A n.2309G>A c.2077G>A (p.Glu693Lys) c.1846G>A (p.Glu616Lys) n.2092G>A | |
11 | g.77174807G>C | CA381939241 | MYO7A | c.1987G>C (p.Glu663Gln) c.52G>C (p.Glu18Gln) c.1954G>C (p.Glu652Gln) c.1756G>C (p.Glu586Gln) c.1729G>C (p.Glu577Gln) n.2307G>C n.2309G>C c.2077G>C (p.Glu693Gln) c.1846G>C (p.Glu616Gln) n.2092G>C | |
11 | g.77174807G>T | CA381939243 | MYO7A | c.1987G>T (p.Glu663Ter) c.52G>T (p.Glu18Ter) c.1954G>T (p.Glu652Ter) c.1756G>T (p.Glu586Ter) c.1729G>T (p.Glu577Ter) n.2307G>T n.2309G>T c.2077G>T (p.Glu693Ter) c.1846G>T (p.Glu616Ter) n.2092G>T | |
11 | g.77174808A>C | CA381939244 | MYO7A | c.1988A>C (p.Glu663Ala) c.53A>C (p.Glu18Ala) c.1955A>C (p.Glu652Ala) c.1757A>C (p.Glu586Ala) c.1730A>C (p.Glu577Ala) n.2308A>C n.2310A>C c.2078A>C (p.Glu693Ala) c.1847A>C (p.Glu616Ala) n.2093A>C | |
11 | g.77174808A>G | CA381939246 | MYO7A | c.1988A>G (p.Glu663Gly) c.53A>G (p.Glu18Gly) c.1955A>G (p.Glu652Gly) c.1757A>G (p.Glu586Gly) c.1730A>G (p.Glu577Gly) n.2308A>G n.2310A>G c.2078A>G (p.Glu693Gly) c.1847A>G (p.Glu616Gly) n.2093A>G | |
11 | g.77174808A>T | CA381939247 | MYO7A | c.1988A>T (p.Glu663Val) c.53A>T (p.Glu18Val) c.1955A>T (p.Glu652Val) c.1757A>T (p.Glu586Val) c.1730A>T (p.Glu577Val) n.2308A>T n.2310A>T c.2078A>T (p.Glu693Val) c.1847A>T (p.Glu616Val) n.2093A>T | |
11 | g.77174809G>A | CA475794556 | MYO7A | c.1989G>A (p.Glu663=) c.54G>A (p.Glu18=) c.1956G>A (p.Glu652=) c.1758G>A (p.Glu586=) c.1731G>A (p.Glu577=) n.2309G>A n.2311G>A c.2079G>A (p.Glu693=) c.1848G>A (p.Glu616=) n.2094G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.77174809G>C | CA381939249 | MYO7A | c.1989G>C (p.Glu663Asp) c.54G>C (p.Glu18Asp) c.1956G>C (p.Glu652Asp) c.1758G>C (p.Glu586Asp) c.1731G>C (p.Glu577Asp) n.2309G>C n.2311G>C c.2079G>C (p.Glu693Asp) c.1848G>C (p.Glu616Asp) n.2094G>C | |
11 | g.77174809G= | CA1984113680 | MYO7A | c.1989G= (p.Glu663=) c.54G= (p.Glu18=) c.1956G= (p.Glu652=) c.1758G= (p.Glu586=) c.1731G= (p.Glu577=) n.2309G= n.2311G= c.2079G= (p.Glu693=) c.1848G= (p.Glu616=) n.2094G= | |
11 | g.77174809G>T | CA381939251 | MYO7A | c.1989G>T (p.Glu663Asp) c.54G>T (p.Glu18Asp) c.1956G>T (p.Glu652Asp) c.1758G>T (p.Glu586Asp) c.1731G>T (p.Glu577Asp) n.2309G>T n.2311G>T c.2079G>T (p.Glu693Asp) c.1848G>T (p.Glu616Asp) n.2094G>T | |
11 | g.77174810A= | CA1984113688 | MYO7A | c.1990A= (p.Thr664=) c.55A= (p.Thr19=) c.1957A= (p.Thr653=) c.1759A= (p.Thr587=) c.1732A= (p.Thr578=) n.2310A= n.2312A= c.2080A= (p.Thr694=) c.1849A= (p.Thr617=) n.2095A= | |
11 | g.77174810A>C | CA381939254 | MYO7A | c.1990A>C (p.Thr664Pro) c.55A>C (p.Thr19Pro) c.1957A>C (p.Thr653Pro) c.1759A>C (p.Thr587Pro) c.1732A>C (p.Thr578Pro) n.2310A>C n.2312A>C c.2080A>C (p.Thr694Pro) c.1849A>C (p.Thr617Pro) n.2095A>C | |
11 | g.77174810A>G | CA6197658 | MYO7A | c.1990A>G (p.Thr664Ala) c.55A>G (p.Thr19Ala) c.1957A>G (p.Thr653Ala) c.1759A>G (p.Thr587Ala) c.1732A>G (p.Thr578Ala) n.2310A>G n.2312A>G c.2080A>G (p.Thr694Ala) c.1849A>G (p.Thr617Ala) n.2095A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77174810A>T | CA381939252 | MYO7A | c.1990A>T (p.Thr664Ser) c.55A>T (p.Thr19Ser) c.1957A>T (p.Thr653Ser) c.1759A>T (p.Thr587Ser) c.1732A>T (p.Thr578Ser) n.2310A>T n.2312A>T c.2080A>T (p.Thr694Ser) c.1849A>T (p.Thr617Ser) n.2095A>T | |
11 | g.77174811C>A | CA381939256 | MYO7A | c.1991C>A (p.Thr664Asn) c.56C>A (p.Thr19Asn) c.1958C>A (p.Thr653Asn) c.1760C>A (p.Thr587Asn) c.1733C>A (p.Thr578Asn) n.2311C>A n.2313C>A c.2081C>A (p.Thr694Asn) c.1850C>A (p.Thr617Asn) n.2096C>A | |
11 | g.77174811C>G | CA381939259 | MYO7A | c.1991C>G (p.Thr664Ser) c.56C>G (p.Thr19Ser) c.1958C>G (p.Thr653Ser) c.1760C>G (p.Thr587Ser) c.1733C>G (p.Thr578Ser) n.2311C>G n.2313C>G c.2081C>G (p.Thr694Ser) c.1850C>G (p.Thr617Ser) n.2096C>G | |
11 | g.77174811C>T | CA381939258 | MYO7A | c.1991C>T (p.Thr664Ile) c.56C>T (p.Thr19Ile) c.1958C>T (p.Thr653Ile) c.1760C>T (p.Thr587Ile) c.1733C>T (p.Thr578Ile) n.2311C>T n.2313C>T c.2081C>T (p.Thr694Ile) c.1850C>T (p.Thr617Ile) n.2096C>T | |
11 | g.77174812C>A | CA475794557 | MYO7A | c.1992C>A (p.Thr664=) c.57C>A (p.Thr19=) c.1959C>A (p.Thr653=) c.1761C>A (p.Thr587=) c.1734C>A (p.Thr578=) n.2312C>A n.2314C>A c.2082C>A (p.Thr694=) c.1851C>A (p.Thr617=) n.2097C>A | |
11 | g.77174812C>G | CA475794559 | MYO7A | c.1992C>G (p.Thr664=) c.57C>G (p.Thr19=) c.1959C>G (p.Thr653=) c.1761C>G (p.Thr587=) c.1734C>G (p.Thr578=) n.2312C>G n.2314C>G c.2082C>G (p.Thr694=) c.1851C>G (p.Thr617=) n.2097C>G | |
11 | g.77174812C>T | CA475794558 | MYO7A | c.1992C>T (p.Thr664=) c.57C>T (p.Thr19=) c.1959C>T (p.Thr653=) c.1761C>T (p.Thr587=) c.1734C>T (p.Thr578=) n.2312C>T n.2314C>T c.2082C>T (p.Thr694=) c.1851C>T (p.Thr617=) n.2097C>T | |
11 | g.77174813A= | CA1984113695 | MYO7A | c.1993A= (p.Ile665=) c.58A= (p.Ile20=) c.1960A= (p.Ile654=) c.1762A= (p.Ile588=) c.1735A= (p.Ile579=) n.2313A= n.2315A= c.2083A= (p.Ile695=) c.1852A= (p.Ile618=) n.2098A= | |
11 | g.77174813A>C | CA381939261 | MYO7A | c.1993A>C (p.Ile665Leu) c.58A>C (p.Ile20Leu) c.1960A>C (p.Ile654Leu) c.1762A>C (p.Ile588Leu) c.1735A>C (p.Ile579Leu) n.2313A>C n.2315A>C c.2083A>C (p.Ile695Leu) c.1852A>C (p.Ile618Leu) n.2098A>C | |
11 | g.77174813A>G | CA381939263 | MYO7A | c.1993A>G (p.Ile665Val) c.58A>G (p.Ile20Val) c.1960A>G (p.Ile654Val) c.1762A>G (p.Ile588Val) c.1735A>G (p.Ile579Val) n.2313A>G n.2315A>G c.2083A>G (p.Ile695Val) c.1852A>G (p.Ile618Val) n.2098A>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77174813A>T | CA381939264 | MYO7A | c.1993A>T (p.Ile665Phe) c.58A>T (p.Ile20Phe) c.1960A>T (p.Ile654Phe) c.1762A>T (p.Ile588Phe) c.1735A>T (p.Ile579Phe) n.2313A>T n.2315A>T c.2083A>T (p.Ile695Phe) c.1852A>T (p.Ile618Phe) n.2098A>T | |
11 | g.77174814T>A | CA381939265 | MYO7A | c.1994T>A (p.Ile665Asn) c.59T>A (p.Ile20Asn) c.1961T>A (p.Ile654Asn) c.1763T>A (p.Ile588Asn) c.1736T>A (p.Ile579Asn) n.2314T>A n.2316T>A c.2084T>A (p.Ile695Asn) c.1853T>A (p.Ile618Asn) n.2099T>A | gnomAD v4 |
11 | g.77174814T>C | CA381939266 | MYO7A | c.1994T>C (p.Ile665Thr) c.59T>C (p.Ile20Thr) c.1961T>C (p.Ile654Thr) c.1763T>C (p.Ile588Thr) c.1736T>C (p.Ile579Thr) n.2314T>C n.2316T>C c.2084T>C (p.Ile695Thr) c.1853T>C (p.Ile618Thr) n.2099T>C | |
11 | g.77174814T>G | CA381939268 | MYO7A | c.1994T>G (p.Ile665Ser) c.59T>G (p.Ile20Ser) c.1961T>G (p.Ile654Ser) c.1763T>G (p.Ile588Ser) c.1736T>G (p.Ile579Ser) n.2314T>G n.2316T>G c.2084T>G (p.Ile695Ser) c.1853T>G (p.Ile618Ser) n.2099T>G | |
11 | g.77174815C>A | CA475794560 | MYO7A | c.1995C>A (p.Ile665=) c.60C>A (p.Ile20=) c.1962C>A (p.Ile654=) c.1764C>A (p.Ile588=) c.1737C>A (p.Ile579=) n.2315C>A n.2317C>A c.2085C>A (p.Ile695=) c.1854C>A (p.Ile618=) n.2100C>A | |
11 | g.77174815C>G | CA381939269 | MYO7A | c.1995C>G (p.Ile665Met) c.60C>G (p.Ile20Met) c.1962C>G (p.Ile654Met) c.1764C>G (p.Ile588Met) c.1737C>G (p.Ile579Met) n.2315C>G n.2317C>G c.2085C>G (p.Ile695Met) c.1854C>G (p.Ile618Met) n.2100C>G | |
11 | g.77174815C>T | CA475794561 | MYO7A | c.1995C>T (p.Ile665=) c.60C>T (p.Ile20=) c.1962C>T (p.Ile654=) c.1764C>T (p.Ile588=) c.1737C>T (p.Ile579=) n.2315C>T n.2317C>T c.2085C>T (p.Ile695=) c.1854C>T (p.Ile618=) n.2100C>T | gnomAD v4 |
11 | g.77174816C>A | CA475794562 | MYO7A | c.1996C>A (p.Arg666=) c.61C>A (p.Arg21=) c.1963C>A (p.Arg655=) c.1765C>A (p.Arg589=) c.1738C>A (p.Arg580=) n.2316C>A n.2318C>A c.2086C>A (p.Arg696=) c.1855C>A (p.Arg619=) n.2101C>A | gnomAD v4 |
11 | g.77174816C= | CA1984113705 | MYO7A | c.1996C= (p.Arg666=) c.61C= (p.Arg21=) c.1963C= (p.Arg655=) c.1765C= (p.Arg589=) c.1738C= (p.Arg580=) n.2316C= n.2318C= c.2086C= (p.Arg696=) c.1855C= (p.Arg619=) n.2101C= | |
11 | g.77174816C>G | CA381939270 | MYO7A | c.1996C>G (p.Arg666Gly) c.61C>G (p.Arg21Gly) c.1963C>G (p.Arg655Gly) c.1765C>G (p.Arg589Gly) c.1738C>G (p.Arg580Gly) n.2316C>G n.2318C>G c.2086C>G (p.Arg696Gly) c.1855C>G (p.Arg619Gly) n.2101C>G | |
11 | g.77174816C>T | CA277967 | MYO7A | c.1996C>T (p.Arg666Ter) c.61C>T (p.Arg21Ter) c.1963C>T (p.Arg655Ter) c.1765C>T (p.Arg589Ter) c.1738C>T (p.Arg580Ter) n.2316C>T n.2318C>T c.2086C>T (p.Arg696Ter) c.1855C>T (p.Arg619Ter) n.2101C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77174817G>A | CA6197659 | MYO7A | c.1997G>A (p.Arg666Gln) c.62G>A (p.Arg21Gln) c.1964G>A (p.Arg655Gln) c.1766G>A (p.Arg589Gln) c.1739G>A (p.Arg580Gln) n.2317G>A n.2319G>A c.2087G>A (p.Arg696Gln) c.1856G>A (p.Arg619Gln) n.2102G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.77174817G>C | CA381939272 | MYO7A | c.1997G>C (p.Arg666Pro) c.62G>C (p.Arg21Pro) c.1964G>C (p.Arg655Pro) c.1766G>C (p.Arg589Pro) c.1739G>C (p.Arg580Pro) n.2317G>C n.2319G>C c.2087G>C (p.Arg696Pro) c.1856G>C (p.Arg619Pro) n.2102G>C | ClinVar dbSNP |
11 | g.77174817G= | CA1984113718 | MYO7A | c.1997G= (p.Arg666=) c.62G= (p.Arg21=) c.1964G= (p.Arg655=) c.1766G= (p.Arg589=) c.1739G= (p.Arg580=) n.2317G= n.2319G= c.2087G= (p.Arg696=) c.1856G= (p.Arg619=) n.2102G= | |
11 | g.77174817G>T | CA381939274 | MYO7A | c.1997G>T (p.Arg666Leu) c.62G>T (p.Arg21Leu) c.1964G>T (p.Arg655Leu) c.1766G>T (p.Arg589Leu) c.1739G>T (p.Arg580Leu) n.2317G>T n.2319G>T c.2087G>T (p.Arg696Leu) c.1856G>T (p.Arg619Leu) n.2102G>T | |
11 | g.77174818A>C | CA475794563 | MYO7A | c.1998A>C (p.Arg666=) c.63A>C (p.Arg21=) c.1965A>C (p.Arg655=) c.1767A>C (p.Arg589=) c.1740A>C (p.Arg580=) n.2318A>C n.2320A>C c.2088A>C (p.Arg696=) c.1857A>C (p.Arg619=) n.2103A>C | |
11 | g.77174818A>G | CA475794564 | MYO7A | c.1998A>G (p.Arg666=) c.63A>G (p.Arg21=) c.1965A>G (p.Arg655=) c.1767A>G (p.Arg589=) c.1740A>G (p.Arg580=) n.2318A>G n.2320A>G c.2088A>G (p.Arg696=) c.1857A>G (p.Arg619=) n.2103A>G | |
11 | g.77174818A>T | CA475794566 | MYO7A | c.1998A>T (p.Arg666=) c.63A>T (p.Arg21=) c.1965A>T (p.Arg655=) c.1767A>T (p.Arg589=) c.1740A>T (p.Arg580=) n.2318A>T n.2320A>T c.2088A>T (p.Arg696=) c.1857A>T (p.Arg619=) n.2103A>T | |
11 | g.77174819A>C | CA381939279 | MYO7A | c.1999A>C (p.Ile667Leu) c.64A>C (p.Ile22Leu) c.1966A>C (p.Ile656Leu) c.1768A>C (p.Ile590Leu) c.1741A>C (p.Ile581Leu) n.2319A>C n.2321A>C c.2089A>C (p.Ile697Leu) c.1858A>C (p.Ile620Leu) n.2104A>C | |
11 | g.77174819A>G | CA381939276 | MYO7A | c.1999A>G (p.Ile667Val) c.64A>G (p.Ile22Val) c.1966A>G (p.Ile656Val) c.1768A>G (p.Ile590Val) c.1741A>G (p.Ile581Val) n.2319A>G n.2321A>G c.2089A>G (p.Ile697Val) c.1858A>G (p.Ile620Val) n.2104A>G | |
11 | g.77174819A>T | CA381939278 | MYO7A | c.1999A>T (p.Ile667Phe) c.64A>T (p.Ile22Phe) c.1966A>T (p.Ile656Phe) c.1768A>T (p.Ile590Phe) c.1741A>T (p.Ile581Phe) n.2319A>T n.2321A>T c.2089A>T (p.Ile697Phe) c.1858A>T (p.Ile620Phe) n.2104A>T | |
11 | g.77174820T>A | CA381939281 | MYO7A | c.2000T>A (p.Ile667Asn) c.65T>A (p.Ile22Asn) c.1967T>A (p.Ile656Asn) c.1769T>A (p.Ile590Asn) c.1742T>A (p.Ile581Asn) n.2320T>A n.2322T>A c.2090T>A (p.Ile697Asn) c.1859T>A (p.Ile620Asn) n.2105T>A | gnomAD v4 |
11 | g.77174820T>C | CA381939282 | MYO7A | c.2000T>C (p.Ile667Thr) c.65T>C (p.Ile22Thr) c.1967T>C (p.Ile656Thr) c.1769T>C (p.Ile590Thr) c.1742T>C (p.Ile581Thr) n.2320T>C n.2322T>C c.2090T>C (p.Ile697Thr) c.1859T>C (p.Ile620Thr) n.2105T>C | |
11 | g.77174820T>G | CA381939284 | MYO7A | c.2000T>G (p.Ile667Ser) c.65T>G (p.Ile22Ser) c.1967T>G (p.Ile656Ser) c.1769T>G (p.Ile590Ser) c.1742T>G (p.Ile581Ser) n.2320T>G n.2322T>G c.2090T>G (p.Ile697Ser) c.1859T>G (p.Ile620Ser) n.2105T>G | |
11 | g.77174821C>A | CA6197660 | MYO7A | c.2001C>A (p.Ile667=) c.66C>A (p.Ile22=) c.1968C>A (p.Ile656=) c.1770C>A (p.Ile590=) c.1743C>A (p.Ile581=) n.2321C>A n.2323C>A c.2091C>A (p.Ile697=) c.1860C>A (p.Ile620=) n.2106C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77174821C= | CA1984113730 | MYO7A | c.2001C= (p.Ile667=) c.66C= (p.Ile22=) c.1968C= (p.Ile656=) c.1770C= (p.Ile590=) c.1743C= (p.Ile581=) n.2321C= n.2323C= c.2091C= (p.Ile697=) c.1860C= (p.Ile620=) n.2106C= | |
11 | g.77174821C>G | CA381939286 | MYO7A | c.2001C>G (p.Ile667Met) c.66C>G (p.Ile22Met) c.1968C>G (p.Ile656Met) c.1770C>G (p.Ile590Met) c.1743C>G (p.Ile581Met) n.2321C>G n.2323C>G c.2091C>G (p.Ile697Met) c.1860C>G (p.Ile620Met) n.2106C>G | |
11 | g.77174821C>T | CA475794567 | MYO7A | c.2001C>T (p.Ile667=) c.66C>T (p.Ile22=) c.1968C>T (p.Ile656=) c.1770C>T (p.Ile590=) c.1743C>T (p.Ile581=) n.2321C>T n.2323C>T c.2091C>T (p.Ile697=) c.1860C>T (p.Ile620=) n.2106C>T | ClinVar dbSNP |
11 | g.77174822C>A | CA381939288 | MYO7A | c.2002C>A (p.Arg668Ser) c.67C>A (p.Arg23Ser) c.1969C>A (p.Arg657Ser) c.1771C>A (p.Arg591Ser) c.1744C>A (p.Arg582Ser) n.2322C>A n.2324C>A c.2092C>A (p.Arg698Ser) c.1861C>A (p.Arg621Ser) n.2107C>A | |
11 | g.77174822C= | CA1984113746 | MYO7A | c.2002C= (p.Arg668=) c.67C= (p.Arg23=) c.1969C= (p.Arg657=) c.1771C= (p.Arg591=) c.1744C= (p.Arg582=) n.2322C= n.2324C= c.2092C= (p.Arg698=) c.1861C= (p.Arg621=) n.2107C= | |
11 | g.77174822C>G | CA381939289 | MYO7A | c.2002C>G (p.Arg668Gly) c.67C>G (p.Arg23Gly) c.1969C>G (p.Arg657Gly) c.1771C>G (p.Arg591Gly) c.1744C>G (p.Arg582Gly) n.2322C>G n.2324C>G c.2092C>G (p.Arg698Gly) c.1861C>G (p.Arg621Gly) n.2107C>G | |
11 | g.77174822C>T | CA132231 | MYO7A | c.2002C>T (p.Arg668Cys) c.67C>T (p.Arg23Cys) c.1969C>T (p.Arg657Cys) c.1771C>T (p.Arg591Cys) c.1744C>T (p.Arg582Cys) n.2322C>T n.2324C>T c.2092C>T (p.Arg698Cys) c.1861C>T (p.Arg621Cys) n.2107C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77174823G>A | CA224837120 | MYO7A | c.2003G>A (p.Arg668His) c.68G>A (p.Arg23His) c.1970G>A (p.Arg657His) c.1772G>A (p.Arg591His) c.1745G>A (p.Arg582His) n.2323G>A n.2325G>A c.2093G>A (p.Arg698His) c.1862G>A (p.Arg621His) n.2108G>A | ClinVar dbSNP gnomAD v4 |
11 | g.77174823G>C | CA6197661 | MYO7A | c.2003G>C (p.Arg668Pro) c.68G>C (p.Arg23Pro) c.1970G>C (p.Arg657Pro) c.1772G>C (p.Arg591Pro) c.1745G>C (p.Arg582Pro) n.2323G>C n.2325G>C c.2093G>C (p.Arg698Pro) c.1862G>C (p.Arg621Pro) n.2108G>C | ClinVar dbSNP ExAC gnomAD v2 |
11 | g.77174823G= | CA1984113765 | MYO7A | c.2003G= (p.Arg668=) c.68G= (p.Arg23=) c.1970G= (p.Arg657=) c.1772G= (p.Arg591=) c.1745G= (p.Arg582=) n.2323G= n.2325G= c.2093G= (p.Arg698=) c.1862G= (p.Arg621=) n.2108G= | |
11 | g.77174823G>T | CA381939293 | MYO7A | c.2003G>T (p.Arg668Leu) c.68G>T (p.Arg23Leu) c.1970G>T (p.Arg657Leu) c.1772G>T (p.Arg591Leu) c.1745G>T (p.Arg582Leu) n.2323G>T n.2325G>T c.2093G>T (p.Arg698Leu) c.1862G>T (p.Arg621Leu) n.2108G>T | ClinVar dbSNP |
11 | g.77174824C>A | CA475794568 | MYO7A | c.2004C>A (p.Arg668=) c.69C>A (p.Arg23=) c.1971C>A (p.Arg657=) c.1773C>A (p.Arg591=) c.1746C>A (p.Arg582=) n.2324C>A n.2326C>A c.2094C>A (p.Arg698=) c.1863C>A (p.Arg621=) n.2109C>A | dbSNP |
11 | g.77174824C= | CA1984113777 | MYO7A | c.2004C= (p.Arg668=) c.69C= (p.Arg23=) c.1971C= (p.Arg657=) c.1773C= (p.Arg591=) c.1746C= (p.Arg582=) n.2324C= n.2326C= c.2094C= (p.Arg698=) c.1863C= (p.Arg621=) n.2109C= | |
11 | g.77174824C>G | CA475794569 | MYO7A | c.2004C>G (p.Arg668=) c.69C>G (p.Arg23=) c.1971C>G (p.Arg657=) c.1773C>G (p.Arg591=) c.1746C>G (p.Arg582=) n.2324C>G n.2326C>G c.2094C>G (p.Arg698=) c.1863C>G (p.Arg621=) n.2109C>G | |
11 | g.77174824C>T | CA475794570 | MYO7A | c.2004C>T (p.Arg668=) c.69C>T (p.Arg23=) c.1971C>T (p.Arg657=) c.1773C>T (p.Arg591=) c.1746C>T (p.Arg582=) n.2324C>T n.2326C>T c.2094C>T (p.Arg698=) c.1863C>T (p.Arg621=) n.2109C>T | |
11 | g.77174825C>A | CA6197662 | MYO7A | c.2005C>A (p.Arg669=) c.70C>A (p.Arg24=) c.1972C>A (p.Arg658=) c.1774C>A (p.Arg592=) c.1747C>A (p.Arg583=) n.2325C>A n.2327C>A c.2095C>A (p.Arg699=) c.1864C>A (p.Arg622=) n.2110C>A | dbSNP ExAC gnomAD v2 |
11 | g.77174825C= | CA1984113784 | MYO7A | c.2005C= (p.Arg669=) c.70C= (p.Arg24=) c.1972C= (p.Arg658=) c.1774C= (p.Arg592=) c.1747C= (p.Arg583=) n.2325C= n.2327C= c.2095C= (p.Arg699=) c.1864C= (p.Arg622=) n.2110C= | |
11 | g.77174825C>G | CA381939296 | MYO7A | c.2005C>G (p.Arg669Gly) c.70C>G (p.Arg24Gly) c.1972C>G (p.Arg658Gly) c.1774C>G (p.Arg592Gly) c.1747C>G (p.Arg583Gly) n.2325C>G n.2327C>G c.2095C>G (p.Arg699Gly) c.1864C>G (p.Arg622Gly) n.2110C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.77174825C>T | CA278640 | MYO7A | c.2005C>T (p.Arg669Ter) c.70C>T (p.Arg24Ter) c.1972C>T (p.Arg658Ter) c.1774C>T (p.Arg592Ter) c.1747C>T (p.Arg583Ter) n.2325C>T n.2327C>T c.2095C>T (p.Arg699Ter) c.1864C>T (p.Arg622Ter) n.2110C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77174826G>A | CA6197663 | MYO7A | c.2006G>A (p.Arg669Gln) c.71G>A (p.Arg24Gln) c.1973G>A (p.Arg658Gln) c.1775G>A (p.Arg592Gln) c.1748G>A (p.Arg583Gln) n.2326G>A n.2328G>A c.2096G>A (p.Arg699Gln) c.1865G>A (p.Arg622Gln) n.2111G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77174826G>C | CA381939297 | MYO7A | c.2006G>C (p.Arg669Pro) c.71G>C (p.Arg24Pro) c.1973G>C (p.Arg658Pro) c.1775G>C (p.Arg592Pro) c.1748G>C (p.Arg583Pro) n.2326G>C n.2328G>C c.2096G>C (p.Arg699Pro) c.1865G>C (p.Arg622Pro) n.2111G>C | |
11 | g.77174826G= | CA1984113794 | MYO7A | c.2006G= (p.Arg669=) c.71G= (p.Arg24=) c.1973G= (p.Arg658=) c.1775G= (p.Arg592=) c.1748G= (p.Arg583=) n.2326G= n.2328G= c.2096G= (p.Arg699=) c.1865G= (p.Arg622=) n.2111G= | |
11 | g.77174826G>T | CA381939298 | MYO7A | c.2006G>T (p.Arg669Leu) c.71G>T (p.Arg24Leu) c.1973G>T (p.Arg658Leu) c.1775G>T (p.Arg592Leu) c.1748G>T (p.Arg583Leu) n.2326G>T n.2328G>T c.2096G>T (p.Arg699Leu) c.1865G>T (p.Arg622Leu) n.2111G>T | |
11 | g.77174827A>C | CA475794573 | MYO7A | c.2007A>C (p.Arg669=) c.72A>C (p.Arg24=) c.1974A>C (p.Arg658=) c.1776A>C (p.Arg592=) c.1749A>C (p.Arg583=) n.2327A>C n.2329A>C c.2097A>C (p.Arg699=) c.1866A>C (p.Arg622=) n.2112A>C | |
11 | g.77174827A>G | CA475794571 | MYO7A | c.2007A>G (p.Arg669=) c.72A>G (p.Arg24=) c.1974A>G (p.Arg658=) c.1776A>G (p.Arg592=) c.1749A>G (p.Arg583=) n.2327A>G n.2329A>G c.2097A>G (p.Arg699=) c.1866A>G (p.Arg622=) n.2112A>G | |
11 | g.77174827A>T | CA475794572 | MYO7A | c.2007A>T (p.Arg669=) c.72A>T (p.Arg24=) c.1974A>T (p.Arg658=) c.1776A>T (p.Arg592=) c.1749A>T (p.Arg583=) n.2327A>T n.2329A>T c.2097A>T (p.Arg699=) c.1866A>T (p.Arg622=) n.2112A>T | |
11 | g.77174828G>A | CA381939300 | MYO7A | c.2008G>A (p.Ala670Thr) c.73G>A (p.Ala25Thr) c.1975G>A (p.Ala659Thr) c.1777G>A (p.Ala593Thr) c.1750G>A (p.Ala584Thr) n.2328G>A n.2330G>A c.2098G>A (p.Ala700Thr) c.1867G>A (p.Ala623Thr) n.2113G>A | |
11 | g.77174828G>C | CA381939302 | MYO7A | c.2008G>C (p.Ala670Pro) c.73G>C (p.Ala25Pro) c.1975G>C (p.Ala659Pro) c.1777G>C (p.Ala593Pro) c.1750G>C (p.Ala584Pro) n.2328G>C n.2330G>C c.2098G>C (p.Ala700Pro) c.1867G>C (p.Ala623Pro) n.2113G>C | gnomAD v4 |
11 | g.77174828G>T | CA381939304 | MYO7A | c.2008G>T (p.Ala670Ser) c.73G>T (p.Ala25Ser) c.1975G>T (p.Ala659Ser) c.1777G>T (p.Ala593Ser) c.1750G>T (p.Ala584Ser) n.2328G>T n.2330G>T c.2098G>T (p.Ala700Ser) c.1867G>T (p.Ala623Ser) n.2113G>T | |
11 | g.77174829C>A | CA381939308 | MYO7A | c.2009C>A (p.Ala670Asp) c.74C>A (p.Ala25Asp) c.1976C>A (p.Ala659Asp) c.1778C>A (p.Ala593Asp) c.1751C>A (p.Ala584Asp) n.2329C>A n.2331C>A c.2099C>A (p.Ala700Asp) c.1868C>A (p.Ala623Asp) n.2114C>A | |
11 | g.77174829C>G | CA381939306 | MYO7A | c.2009C>G (p.Ala670Gly) c.74C>G (p.Ala25Gly) c.1976C>G (p.Ala659Gly) c.1778C>G (p.Ala593Gly) c.1751C>G (p.Ala584Gly) n.2329C>G n.2331C>G c.2099C>G (p.Ala700Gly) c.1868C>G (p.Ala623Gly) n.2114C>G | |
11 | g.77174829C>T | CA381939305 | MYO7A | c.2009C>T (p.Ala670Val) c.74C>T (p.Ala25Val) c.1976C>T (p.Ala659Val) c.1778C>T (p.Ala593Val) c.1751C>T (p.Ala584Val) n.2329C>T n.2331C>T c.2099C>T (p.Ala700Val) c.1868C>T (p.Ala623Val) n.2114C>T | |
11 | g.77174830T>A | CA475794574 | MYO7A | c.2010T>A (p.Ala670=) c.75T>A (p.Ala25=) c.1977T>A (p.Ala659=) c.1779T>A (p.Ala593=) c.1752T>A (p.Ala584=) n.2330T>A n.2332T>A c.2100T>A (p.Ala700=) c.1869T>A (p.Ala623=) n.2115T>A | |
11 | g.77174830T>C | CA475794575 | MYO7A | c.2010T>C (p.Ala670=) c.75T>C (p.Ala25=) c.1977T>C (p.Ala659=) c.1779T>C (p.Ala593=) c.1752T>C (p.Ala584=) n.2330T>C n.2332T>C c.2100T>C (p.Ala700=) c.1869T>C (p.Ala623=) n.2115T>C | gnomAD v4 |
11 | g.77174830T>G | CA475794576 | MYO7A | c.2010T>G (p.Ala670=) c.75T>G (p.Ala25=) c.1977T>G (p.Ala659=) c.1779T>G (p.Ala593=) c.1752T>G (p.Ala584=) n.2330T>G n.2332T>G c.2100T>G (p.Ala700=) c.1869T>G (p.Ala623=) n.2115T>G | |
11 | g.77174831G>A | CA177376 | MYO7A | c.2011G>A (p.Gly671Ser) c.76G>A (p.Gly26Ser) c.1978G>A (p.Gly660Ser) c.1780G>A (p.Gly594Ser) c.1753G>A (p.Gly585Ser) n.2331G>A n.2333G>A c.2101G>A (p.Gly701Ser) c.1870G>A (p.Gly624Ser) n.2116G>A | ClinVar dbSNP |
11 | g.77174831G>C | CA381939310 | MYO7A | c.2011G>C (p.Gly671Arg) c.76G>C (p.Gly26Arg) c.1978G>C (p.Gly660Arg) c.1780G>C (p.Gly594Arg) c.1753G>C (p.Gly585Arg) n.2331G>C n.2333G>C c.2101G>C (p.Gly701Arg) c.1870G>C (p.Gly624Arg) n.2116G>C | |
11 | g.77174831G= | CA1984113805 | MYO7A | c.2011G= (p.Gly671=) c.76G= (p.Gly26=) c.1978G= (p.Gly660=) c.1780G= (p.Gly594=) c.1753G= (p.Gly585=) n.2331G= n.2333G= c.2101G= (p.Gly701=) c.1870G= (p.Gly624=) n.2116G= | |
11 | g.77174831G>T | CA381939312 | MYO7A | c.2011G>T (p.Gly671Cys) c.76G>T (p.Gly26Cys) c.1978G>T (p.Gly660Cys) c.1780G>T (p.Gly594Cys) c.1753G>T (p.Gly585Cys) n.2331G>T n.2333G>T c.2101G>T (p.Gly701Cys) c.1870G>T (p.Gly624Cys) n.2116G>T | |
11 | g.77174832G>A | CA381939313 | MYO7A | c.2012G>A (p.Gly671Asp) c.77G>A (p.Gly26Asp) c.1979G>A (p.Gly660Asp) c.1781G>A (p.Gly594Asp) c.1754G>A (p.Gly585Asp) n.2332G>A n.2334G>A c.2102G>A (p.Gly701Asp) c.1871G>A (p.Gly624Asp) n.2117G>A | gnomAD v4 |
11 | g.77174832G>C | CA381939314 | MYO7A | c.2012G>C (p.Gly671Ala) c.77G>C (p.Gly26Ala) c.1979G>C (p.Gly660Ala) c.1781G>C (p.Gly594Ala) c.1754G>C (p.Gly585Ala) n.2332G>C n.2334G>C c.2102G>C (p.Gly701Ala) c.1871G>C (p.Gly624Ala) n.2117G>C | dbSNP |
11 | g.77174832G= | CA1984113808 | MYO7A | c.2012G= (p.Gly671=) c.77G= (p.Gly26=) c.1979G= (p.Gly660=) c.1781G= (p.Gly594=) c.1754G= (p.Gly585=) n.2332G= n.2334G= c.2102G= (p.Gly701=) c.1871G= (p.Gly624=) n.2117G= | |
11 | g.77174832G>T | CA381939315 | MYO7A | c.2012G>T (p.Gly671Val) c.77G>T (p.Gly26Val) c.1979G>T (p.Gly660Val) c.1781G>T (p.Gly594Val) c.1754G>T (p.Gly585Val) n.2332G>T n.2334G>T c.2102G>T (p.Gly701Val) c.1871G>T (p.Gly624Val) n.2117G>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77174833C>A | CA475794577 | MYO7A | c.2013C>A (p.Gly671=) c.78C>A (p.Gly26=) c.1980C>A (p.Gly660=) c.1782C>A (p.Gly594=) c.1755C>A (p.Gly585=) n.2333C>A n.2335C>A c.2103C>A (p.Gly701=) c.1872C>A (p.Gly624=) n.2118C>A | |
11 | g.77174833C>G | CA475794578 | MYO7A | c.2013C>G (p.Gly671=) c.78C>G (p.Gly26=) c.1980C>G (p.Gly660=) c.1782C>G (p.Gly594=) c.1755C>G (p.Gly585=) n.2333C>G n.2335C>G c.2103C>G (p.Gly701=) c.1872C>G (p.Gly624=) n.2118C>G | |
11 | g.77174833C>T | CA475794579 | MYO7A | c.2013C>T (p.Gly671=) c.78C>T (p.Gly26=) c.1980C>T (p.Gly660=) c.1782C>T (p.Gly594=) c.1755C>T (p.Gly585=) n.2333C>T n.2335C>T c.2103C>T (p.Gly701=) c.1872C>T (p.Gly624=) n.2118C>T | |
11 | g.77174834T>A | CA381939317 | MYO7A | c.2014T>A (p.Tyr672Asn) c.79T>A (p.Tyr27Asn) c.1981T>A (p.Tyr661Asn) c.1783T>A (p.Tyr595Asn) c.1756T>A (p.Tyr586Asn) n.2334T>A n.2336T>A c.2104T>A (p.Tyr702Asn) c.1873T>A (p.Tyr625Asn) n.2119T>A | |
11 | g.77174834T>C | CA6197664 | MYO7A | c.2014T>C (p.Tyr672His) c.79T>C (p.Tyr27His) c.1981T>C (p.Tyr661His) c.1783T>C (p.Tyr595His) c.1756T>C (p.Tyr586His) n.2334T>C n.2336T>C c.2104T>C (p.Tyr702His) c.1873T>C (p.Tyr625His) n.2119T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77174834T>G | CA381939319 | MYO7A | c.2014T>G (p.Tyr672Asp) c.79T>G (p.Tyr27Asp) c.1981T>G (p.Tyr661Asp) c.1783T>G (p.Tyr595Asp) c.1756T>G (p.Tyr586Asp) n.2334T>G n.2336T>G c.2104T>G (p.Tyr702Asp) c.1873T>G (p.Tyr625Asp) n.2119T>G | |
11 | g.77174834T= | CA1984113815 | MYO7A | c.2014T= (p.Tyr672=) c.79T= (p.Tyr27=) c.1981T= (p.Tyr661=) c.1783T= (p.Tyr595=) c.1756T= (p.Tyr586=) n.2334T= n.2336T= c.2104T= (p.Tyr702=) c.1873T= (p.Tyr625=) n.2119T= | |
11 | g.77174835A= | CA1984113819 | MYO7A | c.2015A= (p.Tyr672=) c.80A= (p.Tyr27=) c.1982A= (p.Tyr661=) c.1784A= (p.Tyr595=) c.1757A= (p.Tyr586=) n.2335A= n.2337A= c.2105A= (p.Tyr702=) c.1874A= (p.Tyr625=) n.2120A= | |
11 | g.77174835A>C | CA381939321 | MYO7A | c.2015A>C (p.Tyr672Ser) c.80A>C (p.Tyr27Ser) c.1982A>C (p.Tyr661Ser) c.1784A>C (p.Tyr595Ser) c.1757A>C (p.Tyr586Ser) n.2335A>C n.2337A>C c.2105A>C (p.Tyr702Ser) c.1874A>C (p.Tyr625Ser) n.2120A>C | dbSNP |
11 | g.77174835A>G | CA381939323 | MYO7A | c.2015A>G (p.Tyr672Cys) c.80A>G (p.Tyr27Cys) c.1982A>G (p.Tyr661Cys) c.1784A>G (p.Tyr595Cys) c.1757A>G (p.Tyr586Cys) n.2335A>G n.2337A>G c.2105A>G (p.Tyr702Cys) c.1874A>G (p.Tyr625Cys) n.2120A>G | |
11 | g.77174835A>T | CA381939324 | MYO7A | c.2015A>T (p.Tyr672Phe) c.80A>T (p.Tyr27Phe) c.1982A>T (p.Tyr661Phe) c.1784A>T (p.Tyr595Phe) c.1757A>T (p.Tyr586Phe) n.2335A>T n.2337A>T c.2105A>T (p.Tyr702Phe) c.1874A>T (p.Tyr625Phe) n.2120A>T | |
11 | g.77174835_77174836delinsAC | CA1984113820 | MYO7A | c.2015_2016delinsAC (p.Tyr672=) c.80_81delinsAC (p.Tyr27=) c.1982_1983delinsAC (p.Tyr661=) c.1784_1785delinsAC (p.Tyr595=) c.1757_1758delinsAC (p.Tyr586=) n.2335_2336delinsAC n.2337_2338delinsAC c.2105_2106delinsAC (p.Tyr702=) c.1874_1875delinsAC (p.Tyr625=) n.2120_2121delinsAC |