| 1 | g.216246984_216247004dup | CA658823243 | USH2A | c.2390_2410dup (p.Leu803_Pro804insArgAspThrAlaGlySerLeu)
| ClinVar dbSNP |
| 1 | g.216247000_216247001dup | CA529002656 | USH2A | c.2396_2397dup (p.Ala800GlnfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246999T>A | CA344864885 | USH2A | c.2395A>T (p.Thr799Ser)
| |
| 1 | g.216246999T>C | CA344864886 | USH2A | c.2395A>G (p.Thr799Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246999T>G | CA344864884 | USH2A | c.2395A>C (p.Thr799Pro)
| |
| 1 | g.216246999T= | CA1220619211 | USH2A | c.2395A= (p.Thr799=)
| |
| 1 | g.216247000G>A | CA423432062 | USH2A | c.2394C>T (p.Asp798=)
| gnomAD v4 |
| 1 | g.216247000G>C | CA344864887 | USH2A | c.2394C>G (p.Asp798Glu)
| |
| 1 | g.216247000G>T | CA344864888 | USH2A | c.2394C>A (p.Asp798Glu)
| |
| 1 | g.216247001T>A | CA1396238 | USH2A | c.2393A>T (p.Asp798Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247001T>C | CA344864889 | USH2A | c.2393A>G (p.Asp798Gly)
| ClinVar dbSNP |
| 1 | g.216247001T>G | CA344864890 | USH2A | c.2393A>C (p.Asp798Ala)
| |
| 1 | g.216247001T= | CA1142240647 | USH2A | c.2393A= (p.Asp798=)
| |
| 1 | g.216247001_216247003delinsTCA | CA1220619212 | USH2A | c.2391_2393delinsTGA (p.Cys797=)
| |
| 1 | g.216247002C>A | CA344864893 | USH2A | c.2392G>T (p.Asp798Tyr)
| gnomAD v4 |
| 1 | g.216247002C>G | CA344864891 | USH2A | c.2392G>C (p.Asp798His)
| |
| 1 | g.216247002C>T | CA344864892 | USH2A | c.2392G>A (p.Asp798Asn)
| ClinVar dbSNP |
| 1 | g.216247004_216247005del | CA1220619213 | USH2A | c.2391_2392del (p.Cys797Ter)
| ClinVar dbSNP |
| 1 | g.216247003A>C | CA344864894 | USH2A | c.2391T>G (p.Cys797Trp)
| |
| 1 | g.216247003A>G | CA423432063 | USH2A | c.2391T>C (p.Cys797=)
| |
| 1 | g.216247003A>T | CA344864895 | USH2A | c.2391T>A (p.Cys797Ter)
| |
| 1 | g.216247004C>A | CA344864896 | USH2A | c.2390G>T (p.Cys797Phe)
| |
| 1 | g.216247004C= | CA1220619214 | USH2A | c.2390G= (p.Cys797=)
| |
| 1 | g.216247004C>G | CA344864897 | USH2A | c.2390G>C (p.Cys797Ser)
| |
| 1 | g.216247004C>T | CA344864898 | USH2A | c.2390G>A (p.Cys797Tyr)
| dbSNP gnomAD v4 |
| 1 | g.216247005A>C | CA344864899 | USH2A | c.2389T>G (p.Cys797Gly)
| |
| 1 | g.216247005A>G | CA344864901 | USH2A | c.2389T>C (p.Cys797Arg)
| |
| 1 | g.216247005A>T | CA344864900 | USH2A | c.2389T>A (p.Cys797Ser)
| |
| 1 | g.216247006G>A | CA423432064 | USH2A | c.2388C>T (p.Asp796=)
| ClinVar |
| 1 | g.216247006G>C | CA37501383 | USH2A | c.2388C>G (p.Asp796Glu)
| dbSNP |
| 1 | g.216247006G= | CA1143714261 | USH2A | c.2388C= (p.Asp796=)
| |
| 1 | g.216247006G>T | CA344864902 | USH2A | c.2388C>A (p.Asp796Glu)
| |
| 1 | g.216247007T>A | CA344864903 | USH2A | c.2387A>T (p.Asp796Val)
| |
| 1 | g.216247007T>C | CA344864904 | USH2A | c.2387A>G (p.Asp796Gly)
| |
| 1 | g.216247007T>G | CA344864905 | USH2A | c.2387A>C (p.Asp796Ala)
| |
| 1 | g.216247008C>A | CA344864906 | USH2A | c.2386G>T (p.Asp796Tyr)
| |
| 1 | g.216247008C= | CA1220619215 | USH2A | c.2386G= (p.Asp796=)
| |
| 1 | g.216247008C>G | CA344864907 | USH2A | c.2386G>C (p.Asp796His)
| |
| 1 | g.216247008C>T | CA344864908 | USH2A | c.2386G>A (p.Asp796Asn)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216247009A>C | CA344864910 | USH2A | c.2385T>G (p.Cys795Trp)
| |
| 1 | g.216247009A>G | CA423432065 | USH2A | c.2385T>C (p.Cys795=)
| |
| 1 | g.216247009A>T | CA344864909 | USH2A | c.2385T>A (p.Cys795Ter)
| |
| 1 | g.216247010C>A | CA344864911 | USH2A | c.2384G>T (p.Cys795Phe)
| |
| 1 | g.216247010C= | CA1220619216 | USH2A | c.2384G= (p.Cys795=)
| |
| 1 | g.216247010C>G | CA344864912 | USH2A | c.2384G>C (p.Cys795Ser)
| |
| 1 | g.216247010C>T | CA1396239 | USH2A | c.2384G>A (p.Cys795Tyr)
| ClinVar dbSNP ExAC |
| 1 | g.216247011A>C | CA344864913 | USH2A | c.2383T>G (p.Cys795Gly)
| |
| 1 | g.216247011A>G | CA344864914 | USH2A | c.2383T>C (p.Cys795Arg)
| |
| 1 | g.216247011A>T | CA344864915 | USH2A | c.2383T>A (p.Cys795Ser)
| |
| 1 | g.216247012G>A | CA423432066 | USH2A | c.2382C>T (p.Ala794=)
| |
| 1 | g.216247012G>C | CA423432067 | USH2A | c.2382C>G (p.Ala794=)
| |
| 1 | g.216247012G>T | CA423432068 | USH2A | c.2382C>A (p.Ala794=)
| |
| 1 | g.216247013G>A | CA344864916 | USH2A | c.2381C>T (p.Ala794Val)
| |
| 1 | g.216247013G>C | CA344864918 | USH2A | c.2381C>G (p.Ala794Gly)
| |
| 1 | g.216247013G>T | CA344864917 | USH2A | c.2381C>A (p.Ala794Asp)
| ClinVar |
| 1 | g.216247014C>A | CA344864919 | USH2A | c.2380G>T (p.Ala794Ser)
| |
| 1 | g.216247014C= | CA1220619217 | USH2A | c.2380G= (p.Ala794=)
| |
| 1 | g.216247014C>G | CA344864920 | USH2A | c.2380G>C (p.Ala794Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216247014C>T | CA344864921 | USH2A | c.2380G>A (p.Ala794Thr)
| |
| 1 | g.216247015C>A | CA344864922 | USH2A | c.2379G>T (p.Lys793Asn)
| gnomAD v4 |
| 1 | g.216247015C>G | CA344864923 | USH2A | c.2379G>C (p.Lys793Asn)
| |
| 1 | g.216247015C>T | CA423432069 | USH2A | c.2379G>A (p.Lys793=)
| |
| 1 | g.216247016T>A | CA344864924 | USH2A | c.2378A>T (p.Lys793Met)
| |
| 1 | g.216247016T>C | CA344864925 | USH2A | c.2378A>G (p.Lys793Arg)
| |
| 1 | g.216247016T>G | CA344864926 | USH2A | c.2378A>C (p.Lys793Thr)
| |
| 1 | g.216247017T>A | CA344864927 | USH2A | c.2377A>T (p.Lys793Ter)
| ClinVar |
| 1 | g.216247017T>C | CA344864928 | USH2A | c.2377A>G (p.Lys793Glu)
| COSMIC |
| 1 | g.216247017T>G | CA344864929 | USH2A | c.2377A>C (p.Lys793Gln)
| |
| 1 | g.216247018A>C | CA344864931 | USH2A | c.2376T>G (p.Cys792Trp)
| |
| 1 | g.216247018A>G | CA423432070 | USH2A | c.2376T>C (p.Cys792=)
| |
| 1 | g.216247018A>T | CA344864930 | USH2A | c.2376T>A (p.Cys792Ter)
| gnomAD v4 |
| 1 | g.216247019C>A | CA344864932 | USH2A | c.2375G>T (p.Cys792Phe)
| |
| 1 | g.216247019C= | CA1220619218 | USH2A | c.2375G= (p.Cys792=)
| |
| 1 | g.216247019C>G | CA1396240 | USH2A | c.2375G>C (p.Cys792Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216247019C>T | CA344864933 | USH2A | c.2375G>A (p.Cys792Tyr)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216247020A>C | CA344864934 | USH2A | c.2374T>G (p.Cys792Gly)
| COSMIC COSMIC COSMIC |
| 1 | g.216247020A>G | CA344864935 | USH2A | c.2374T>C (p.Cys792Arg)
| |
| 1 | g.216247020A>T | CA344864936 | USH2A | c.2374T>A (p.Cys792Ser)
| |
| 1 | g.216247021A= | CA1220619219 | USH2A | c.2373T= (p.Asn791=)
| |
| 1 | g.216247021A>C | CA1396241 | USH2A | c.2373T>G (p.Asn791Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216247021A>G | CA423432071 | USH2A | c.2373T>C (p.Asn791=)
| |
| 1 | g.216247021A>T | CA344864937 | USH2A | c.2373T>A (p.Asn791Lys)
| |
| 1 | g.216247021_216247022insCC | CA2530522360 | USH2A | c.2372_2373insGG (p.Asn791LysfsTer?)
| |
| 1 | g.216247022T>A | CA344864938 | USH2A | c.2372A>T (p.Asn791Ile)
| |
| 1 | g.216247022T>C | CA1396242 | USH2A | c.2372A>G (p.Asn791Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247022T>G | CA344864939 | USH2A | c.2372A>C (p.Asn791Thr)
| |
| 1 | g.216247022T= | CA1220619220 | USH2A | c.2372A= (p.Asn791=)
| |
| 1 | g.216247022_216247023insG | CA2507773116 | USH2A | c.2371_2372insC (p.Asn791ThrfsTer3)
| |
| 1 | g.216247023T>A | CA344864940 | USH2A | c.2371A>T (p.Asn791Tyr)
| |
| 1 | g.216247023T>C | CA344864941 | USH2A | c.2371A>G (p.Asn791Asp)
| |
| 1 | g.216247023T>G | CA344864942 | USH2A | c.2371A>C (p.Asn791His)
| |
| 1 | g.216247024G>A | CA423432074 | USH2A | c.2370C>T (p.Thr790=)
| |
| 1 | g.216247024G>C | CA423432073 | USH2A | c.2370C>G (p.Thr790=)
| ClinVar |
| 1 | g.216247024G= | CA1220619221 | USH2A | c.2370C= (p.Thr790=)
| |
| 1 | g.216247024G>T | CA423432072 | USH2A | c.2370C>A (p.Thr790=)
| dbSNP |
| 1 | g.216247025G>A | CA344864945 | USH2A | c.2369C>T (p.Thr790Ile)
| |
| 1 | g.216247025G>C | CA344864943 | USH2A | c.2369C>G (p.Thr790Ser)
| |
| 1 | g.216247025G>T | CA344864944 | USH2A | c.2369C>A (p.Thr790Asn)
| |
| 1 | g.216247026T>A | CA344864946 | USH2A | c.2368A>T (p.Thr790Ser)
| |
| 1 | g.216247026T>C | CA344864947 | USH2A | c.2368A>G (p.Thr790Ala)
| |
| 1 | g.216247026T>G | CA344864948 | USH2A | c.2368A>C (p.Thr790Pro)
| |
| 1 | g.216247027G>A | CA1396243 | USH2A | c.2367C>T (p.Val789=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247027G>C | CA423432076 | USH2A | c.2367C>G (p.Val789=)
| |
| 1 | g.216247027G= | CA1144558909 | USH2A | c.2367C= (p.Val789=)
| |
| 1 | g.216247027G>T | CA423432075 | USH2A | c.2367C>A (p.Val789=)
| |
| 1 | g.216247028A= | CA1220619222 | USH2A | c.2366T= (p.Val789=)
| |
| 1 | g.216247028A>C | CA344864949 | USH2A | c.2366T>G (p.Val789Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216247028A>G | CA344864950 | USH2A | c.2366T>C (p.Val789Ala)
| |
| 1 | g.216247028A>T | CA344864951 | USH2A | c.2366T>A (p.Val789Asp)
| |
| 1 | g.216247028_216247030del | CA2513822778 | USH2A | c.2364_2366del (p.Val789del)
| |
| 1 | g.216247029C>A | CA344864952 | USH2A | c.2365G>T (p.Val789Phe)
| |
| 1 | g.216247029C= | CA1143360341 | USH2A | c.2365G= (p.Val789=)
| |
| 1 | g.216247029C>G | CA344864953 | USH2A | c.2365G>C (p.Val789Leu)
| COSMIC COSMIC COSMIC |
| 1 | g.216247029C>T | CA1396244 | USH2A | c.2365G>A (p.Val789Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247030A>C | CA344864954 | USH2A | c.2364T>G (p.Asp788Glu)
| |
| 1 | g.216247030A>G | CA423432077 | USH2A | c.2364T>C (p.Asp788=)
| |
| 1 | g.216247030A>T | CA344864955 | USH2A | c.2364T>A (p.Asp788Glu)
| |
| 1 | g.216247031del | CA2586964557 | USH2A | c.2363del (p.Asp788ValfsTer?)
| |
| 1 | g.216247031T>A | CA344864956 | USH2A | c.2363A>T (p.Asp788Val)
| |
| 1 | g.216247031T>C | CA344864958 | USH2A | c.2363A>G (p.Asp788Gly)
| gnomAD v4 |
| 1 | g.216247031T>G | CA344864957 | USH2A | c.2363A>C (p.Asp788Ala)
| |
| 1 | g.216247032C>A | CA344864959 | USH2A | c.2362G>T (p.Asp788Tyr)
| gnomAD v4 |
| 1 | g.216247032C= | CA1220619223 | USH2A | c.2362G= (p.Asp788=)
| |
| 1 | g.216247032C>G | CA344864961 | USH2A | c.2362G>C (p.Asp788His)
| |
| 1 | g.216247032C>T | CA344864960 | USH2A | c.2362G>A (p.Asp788Asn)
| dbSNP |
| 1 | g.216247033T>A | CA344864962 | USH2A | c.2361A>T (p.Leu787Phe)
| |
| 1 | g.216247033T>C | CA423432078 | USH2A | c.2361A>G (p.Leu787=)
| |
| 1 | g.216247033T>G | CA344864963 | USH2A | c.2361A>C (p.Leu787Phe)
| gnomAD v4 |
| 1 | g.216247034A>C | CA344864964 | USH2A | c.2360T>G (p.Leu787Ter)
| |
| 1 | g.216247034A>G | CA344864965 | USH2A | c.2360T>C (p.Leu787Ser)
| |
| 1 | g.216247034A>T | CA344864966 | USH2A | c.2360T>A (p.Leu787Ter)
| |
| 1 | g.216247035A= | CA1220619224 | USH2A | c.2359T= (p.Leu787=)
| |
| 1 | g.216247035A>C | CA344864967 | USH2A | c.2359T>G (p.Leu787Val)
| |
| 1 | g.216247035A>G | CA423432079 | USH2A | c.2359T>C (p.Leu787=)
| |
| 1 | g.216247035A>T | CA344864968 | USH2A | c.2359T>A (p.Leu787Ile)
| dbSNP |
| 1 | g.216247036C>A | CA423432080 | USH2A | c.2358G>T (p.Gly786=)
| |
| 1 | g.216247036C= | CA1220619225 | USH2A | c.2358G= (p.Gly786=)
| |
| 1 | g.216247036C>G | CA423432081 | USH2A | c.2358G>C (p.Gly786=)
| |
| 1 | g.216247036C>T | CA1396245 | USH2A | c.2358G>A (p.Gly786=)
| ClinVar dbSNP ExAC gnomAD v4 |
| 1 | g.216247037C>A | CA344864969 | USH2A | c.2357G>T (p.Gly786Val)
| |
| 1 | g.216247037C>G | CA344864970 | USH2A | c.2357G>C (p.Gly786Ala)
| |
| 1 | g.216247037C>T | CA344864971 | USH2A | c.2357G>A (p.Gly786Glu)
| |
| 1 | g.216247037_216247038delinsAT | CA2580062140 | USH2A | c.2356_2357delinsAT (p.Gly786Met)
| ClinVar |
| 1 | g.216247038C>A | CA344864974 | USH2A | c.2356G>T (p.Gly786Trp)
| gnomAD v4 |
| 1 | g.216247038C= | CA1220619226 | USH2A | c.2356G= (p.Gly786=)
| |
| 1 | g.216247038C>G | CA344864972 | USH2A | c.2356G>C (p.Gly786Arg)
| |
| 1 | g.216247038C>T | CA344864973 | USH2A | c.2356G>A (p.Gly786Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216247039A>C | CA344864975 | USH2A | c.2355T>G (p.Tyr785Ter)
| |
| 1 | g.216247039A>G | CA423432082 | USH2A | c.2355T>C (p.Tyr785=)
| |
| 1 | g.216247039A>T | CA344864976 | USH2A | c.2355T>A (p.Tyr785Ter)
| |
| 1 | g.216247040T>A | CA344864977 | USH2A | c.2354A>T (p.Tyr785Phe)
| |
| 1 | g.216247040T>C | CA344864978 | USH2A | c.2354A>G (p.Tyr785Cys)
| gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216247040T>G | CA37501426 | USH2A | c.2354A>C (p.Tyr785Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216247040T= | CA1145798343 | USH2A | c.2354A= (p.Tyr785=)
| |
| 1 | g.216247041A= | CA1220619227 | USH2A | c.2353T= (p.Tyr785=)
| |
| 1 | g.216247041A>C | CA344864979 | USH2A | c.2353T>G (p.Tyr785Asp)
| |
| 1 | g.216247041A>G | CA344864980 | USH2A | c.2353T>C (p.Tyr785His)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216247041A>T | CA344864981 | USH2A | c.2353T>A (p.Tyr785Asn)
| COSMIC COSMIC COSMIC |
| 1 | g.216247042A>C | CA344864982 | USH2A | c.2352T>G (p.Phe784Leu)
| |
| 1 | g.216247042A>G | CA423431380 | USH2A | c.2352T>C (p.Phe784=)
| |
| 1 | g.216247042A>T | CA344864983 | USH2A | c.2352T>A (p.Phe784Leu)
| |
| 1 | g.216247043A>C | CA344864985 | USH2A | c.2351T>G (p.Phe784Cys)
| |
| 1 | g.216247043A>G | CA344864986 | USH2A | c.2351T>C (p.Phe784Ser)
| |
| 1 | g.216247043A>T | CA344864984 | USH2A | c.2351T>A (p.Phe784Tyr)
| |
| 1 | g.216247044A= | CA1220619228 | USH2A | c.2350T= (p.Phe784=)
| |
| 1 | g.216247044A>C | CA37501427 | USH2A | c.2350T>G (p.Phe784Val)
| dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216247044A>G | CA344864987 | USH2A | c.2350T>C (p.Phe784Leu)
| |
| 1 | g.216247044A>T | CA344864988 | USH2A | c.2350T>A (p.Phe784Ile)
| |
| 1 | g.216247045G>A | CA423431381 | USH2A | c.2349C>T (p.Asn783=)
| ClinVar dbSNP |
| 1 | g.216247045G>C | CA344864989 | USH2A | c.2349C>G (p.Asn783Lys)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216247045G= | CA1220619229 | USH2A | c.2349C= (p.Asn783=)
| |
| 1 | g.216247045G>T | CA344864990 | USH2A | c.2349C>A (p.Asn783Lys)
| gnomAD v4 |
| 1 | g.216247046T>A | CA344864993 | USH2A | c.2348A>T (p.Asn783Ile)
| COSMIC COSMIC COSMIC |
| 1 | g.216247046T>C | CA344864991 | USH2A | c.2348A>G (p.Asn783Ser)
| dbSNP gnomAD v4 |
| 1 | g.216247046T>G | CA344864992 | USH2A | c.2348A>C (p.Asn783Thr)
| COSMIC COSMIC COSMIC |
| 1 | g.216247046T= | CA1220619230 | USH2A | c.2348A= (p.Asn783=)
| |
| 1 | g.216247047T>A | CA344864994 | USH2A | c.2347A>T (p.Asn783Tyr)
| |
| 1 | g.216247047T>C | CA344864995 | USH2A | c.2347A>G (p.Asn783Asp)
| |
| 1 | g.216247047T>G | CA344864996 | USH2A | c.2347A>C (p.Asn783His)
| |
| 1 | g.216247048T>A | CA344864997 | USH2A | c.2346A>T (p.Glu782Asp)
| |
| 1 | g.216247048T>C | CA423431388 | USH2A | c.2346A>G (p.Glu782=)
| gnomAD v4 |
| 1 | g.216247048T>G | CA344864998 | USH2A | c.2346A>C (p.Glu782Asp)
| |
| 1 | g.216247049T>A | CA344864999 | USH2A | c.2345A>T (p.Glu782Val)
| |
| 1 | g.216247049T>C | CA344865001 | USH2A | c.2345A>G (p.Glu782Gly)
| |
| 1 | g.216247049T>G | CA344865000 | USH2A | c.2345A>C (p.Glu782Ala)
| |
| 1 | g.216247050C>A | CA344865002 | USH2A | c.2344G>T (p.Glu782Ter)
| |
| 1 | g.216247050C>G | CA344865003 | USH2A | c.2344G>C (p.Glu782Gln)
| |
| 1 | g.216247050C>T | CA344865004 | USH2A | c.2344G>A (p.Glu782Lys)
| |
| 1 | g.216247051T>A | CA344865005 | USH2A | c.2343A>T (p.Arg781Ser)
| |
| 1 | g.216247051T>C | CA423431393 | USH2A | c.2343A>G (p.Arg781=)
| |
| 1 | g.216247051T>G | CA344865006 | USH2A | c.2343A>C (p.Arg781Ser)
| |
| 1 | g.216247052C>A | CA344865007 | USH2A | c.2342G>T (p.Arg781Ile)
| |
| 1 | g.216247052C>G | CA344865008 | USH2A | c.2342G>C (p.Arg781Thr)
| |
| 1 | g.216247052C>T | CA344865009 | USH2A | c.2342G>A (p.Arg781Lys)
| gnomAD v4 |
| 1 | g.216247053T>A | CA344865010 | USH2A | c.2341A>T (p.Arg781Ter)
| |
| 1 | g.216247053T>C | CA344865011 | USH2A | c.2341A>G (p.Arg781Gly)
| gnomAD v4 |
| 1 | g.216247053T>G | CA423431398 | USH2A | c.2341A>C (p.Arg781=)
| |
| 1 | g.216247054G>A | CA423431399 | USH2A | c.2340C>T (p.Cys780=)
| dbSNP |
| 1 | g.216247054G>C | CA344865012 | USH2A | c.2340C>G (p.Cys780Trp)
| |
| 1 | g.216247054G= | CA1220619231 | USH2A | c.2340C= (p.Cys780=)
| |
| 1 | g.216247054G>T | CA344865013 | USH2A | c.2340C>A (p.Cys780Ter)
| |
| 1 | g.216247055C>A | CA344865015 | USH2A | c.2339G>T (p.Cys780Phe)
| |
| 1 | g.216247055C>G | CA344865016 | USH2A | c.2339G>C (p.Cys780Ser)
| |
| 1 | g.216247055C>T | CA344865014 | USH2A | c.2339G>A (p.Cys780Tyr)
| |
| 1 | g.216247056A= | CA1220619232 | USH2A | c.2338T= (p.Cys780=)
| |
| 1 | g.216247056A>C | CA1396246 | USH2A | c.2338T>G (p.Cys780Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216247056A>G | CA344865017 | USH2A | c.2338T>C (p.Cys780Arg)
| |
| 1 | g.216247056A>T | CA344865018 | USH2A | c.2338T>A (p.Cys780Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247057G>A | CA423431403 | USH2A | c.2337C>T (p.Thr779=)
| |
| 1 | g.216247057G>C | CA423431404 | USH2A | c.2337C>G (p.Thr779=)
| gnomAD v4 |
| 1 | g.216247057G>T | CA423431405 | USH2A | c.2337C>A (p.Thr779=)
| |
| 1 | g.216247058G>A | CA344865019 | USH2A | c.2336C>T (p.Thr779Ile)
| |
| 1 | g.216247058G>C | CA344865021 | USH2A | c.2336C>G (p.Thr779Ser)
| |
| 1 | g.216247058G= | CA1220619233 | USH2A | c.2336C= (p.Thr779=)
| |
| 1 | g.216247058G>T | CA344865020 | USH2A | c.2336C>A (p.Thr779Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216247059T>A | CA344865022 | USH2A | c.2335A>T (p.Thr779Ser)
| |
| 1 | g.216247059T>C | CA344865025 | USH2A | c.2335A>G (p.Thr779Ala)
| |
| 1 | g.216247059T>G | CA344865023 | USH2A | c.2335A>C (p.Thr779Pro)
| |
| 1 | g.216247060G>A | CA423431411 | USH2A | c.2334C>T (p.Asp778=)
| ClinVar gnomAD v4 |
| 1 | g.216247060G>C | CA344865027 | USH2A | c.2334C>G (p.Asp778Glu)
| |
| 1 | g.216247060G>T | CA344865029 | USH2A | c.2334C>A (p.Asp778Glu)
| |
| 1 | g.216247061T>A | CA344865031 | USH2A | c.2333A>T (p.Asp778Val)
| |
| 1 | g.216247061T>C | CA344865033 | USH2A | c.2333A>G (p.Asp778Gly)
| |
| 1 | g.216247061T>G | CA344865035 | USH2A | c.2333A>C (p.Asp778Ala)
| |
| 1 | g.216247062C>A | CA182608 | USH2A | c.2332G>T (p.Asp778Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247062C= | CA1141896116 | USH2A | c.2332G= (p.Asp778=)
| |
| 1 | g.216247062C>G | CA344865037 | USH2A | c.2332G>C (p.Asp778His)
| COSMIC COSMIC COSMIC |
| 1 | g.216247062C>T | CA344865039 | USH2A | c.2332G>A (p.Asp778Asn)
| |
| 1 | g.216247063A= | CA1220619234 | USH2A | c.2331T= (p.Cys777=)
| |
| 1 | g.216247063A>C | CA344865041 | USH2A | c.2331T>G (p.Cys777Trp)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216247063A>G | CA423431416 | USH2A | c.2331T>C (p.Cys777=)
| |
| 1 | g.216247063A>T | CA344865043 | USH2A | c.2331T>A (p.Cys777Ter)
| |
| 1 | g.216247064C>A | CA344865047 | USH2A | c.2330G>T (p.Cys777Phe)
| |
| 1 | g.216247064C= | CA1143268697 | USH2A | c.2330G= (p.Cys777=)
| |
| 1 | g.216247064C>G | CA344865045 | USH2A | c.2330G>C (p.Cys777Ser)
| |
| 1 | g.216247064C>T | CA1396247 | USH2A | c.2330G>A (p.Cys777Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247065A>C | CA344865049 | USH2A | c.2329T>G (p.Cys777Gly)
| |
| 1 | g.216247065A>G | CA344865050 | USH2A | c.2329T>C (p.Cys777Arg)
| |
| 1 | g.216247065A>T | CA344865052 | USH2A | c.2329T>A (p.Cys777Ser)
| |
| 1 | g.216247066C>A | CA344865054 | USH2A | c.2328G>T (p.Gln776His)
| |
| 1 | g.216247066C= | CA1220619235 | USH2A | c.2328G= (p.Gln776=)
| |
| 1 | g.216247066C>G | CA344865056 | USH2A | c.2328G>C (p.Gln776His)
| dbSNP gnomAD v4 |
| 1 | g.216247066C>T | CA423431418 | USH2A | c.2328G>A (p.Gln776=)
| dbSNP gnomAD v4 |
| 1 | g.216247067T>A | CA344865058 | USH2A | c.2327A>T (p.Gln776Leu)
| COSMIC |
| 1 | g.216247067T>C | CA344865060 | USH2A | c.2327A>G (p.Gln776Arg)
| |
| 1 | g.216247067T>G | CA344865061 | USH2A | c.2327A>C (p.Gln776Pro)
| |
| 1 | g.216247068G>A | CA344865063 | USH2A | c.2326C>T (p.Gln776Ter)
| |
| 1 | g.216247068G>C | CA344865065 | USH2A | c.2326C>G (p.Gln776Glu)
| |
| 1 | g.216247068G>T | CA344865066 | USH2A | c.2326C>A (p.Gln776Lys)
| |
| 1 | g.216247069A>C | CA423431420 | USH2A | c.2325T>G (p.Leu775=)
| |
| 1 | g.216247069A>G | CA423431422 | USH2A | c.2325T>C (p.Leu775=)
| |
| 1 | g.216247069A>T | CA423431423 | USH2A | c.2325T>A (p.Leu775=)
| |
| 1 | g.216247070A= | CA1220619236 | USH2A | c.2324T= (p.Leu775=)
| |
| 1 | g.216247070A>C | CA344865073 | USH2A | c.2324T>G (p.Leu775Arg)
| |
| 1 | g.216247070A>G | CA344865071 | USH2A | c.2324T>C (p.Leu775Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216247070A>T | CA344865069 | USH2A | c.2324T>A (p.Leu775His)
| |
| 1 | g.216247071G>A | CA344865075 | USH2A | c.2323C>T (p.Leu775Phe)
| |
| 1 | g.216247071G>C | CA344865077 | USH2A | c.2323C>G (p.Leu775Val)
| |
| 1 | g.216247071G>T | CA344865079 | USH2A | c.2323C>A (p.Leu775Ile)
| |
| 1 | g.216247072T>A | CA423431426 | USH2A | c.2322A>T (p.Gly774=)
| |
| 1 | g.216247072T>C | CA423431427 | USH2A | c.2322A>G (p.Gly774=)
| ClinVar dbSNP |
| 1 | g.216247072T>G | CA423431429 | USH2A | c.2322A>C (p.Gly774=)
| |
| 1 | g.216247072T= | CA1220619237 | USH2A | c.2322A= (p.Gly774=)
| |
| 1 | g.216247073C>A | CA344865081 | USH2A | c.2321G>T (p.Gly774Val)
| |
| 1 | g.216247073C= | CA1220619238 | USH2A | c.2321G= (p.Gly774=)
| |
| 1 | g.216247073C>G | CA344865083 | USH2A | c.2321G>C (p.Gly774Ala)
| |
| 1 | g.216247073C>T | CA344865085 | USH2A | c.2321G>A (p.Gly774Glu)
| dbSNP gnomAD v4 |
| 1 | g.216247074C>A | CA344865086 | USH2A | c.2320G>T (p.Gly774Ter)
| |
| 1 | g.216247074C= | CA1220619239 | USH2A | c.2320G= (p.Gly774=)
| |
| 1 | g.216247074C>G | CA344865088 | USH2A | c.2320G>C (p.Gly774Arg)
| |
| 1 | g.216247074C>T | CA344865090 | USH2A | c.2320G>A (p.Gly774Arg)
| ClinVar dbSNP |
| 1 | g.216247075T>A | CA344865092 | USH2A | c.2319A>T (p.Lys773Asn)
| |
| 1 | g.216247075T>C | CA1396248 | USH2A | c.2319A>G (p.Lys773=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216247075T>G | CA37501434 | USH2A | c.2319A>C (p.Lys773Asn)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216247075T= | CA1144002707 | USH2A | c.2319A= (p.Lys773=)
| |
| 1 | g.216247076T>A | CA344865099 | USH2A | c.2318A>T (p.Lys773Ile)
| |
| 1 | g.216247076T>C | CA344865096 | USH2A | c.2318A>G (p.Lys773Arg)
| |
| 1 | g.216247076T>G | CA344865098 | USH2A | c.2318A>C (p.Lys773Thr)
| |
| 1 | g.216247077T>A | CA344865101 | USH2A | c.2317A>T (p.Lys773Ter)
| ClinVar |
| 1 | g.216247077T>C | CA344865103 | USH2A | c.2317A>G (p.Lys773Glu)
| |
| 1 | g.216247077T>G | CA344865105 | USH2A | c.2317A>C (p.Lys773Gln)
| |
| 1 | g.216247078G>A | CA423431438 | USH2A | c.2316C>T (p.Ala772=)
| gnomAD v4 |
| 1 | g.216247078G>C | CA423431439 | USH2A | c.2316C>G (p.Ala772=)
| gnomAD v4 |
| 1 | g.216247078G>T | CA423431440 | USH2A | c.2316C>A (p.Ala772=)
| ClinVar |
| 1 | g.216247079G>A | CA344865107 | USH2A | c.2315C>T (p.Ala772Val)
| |
| 1 | g.216247079G>C | CA344865108 | USH2A | c.2315C>G (p.Ala772Gly)
| |
| 1 | g.216247079G>T | CA344865110 | USH2A | c.2315C>A (p.Ala772Asp)
| |
| 1 | g.216247079_216247082del | CA913072831 | USH2A | c.2312_2315del (p.Glu771AlafsTer16)
| |
| 1 | g.216247079_216247082delinsGCTT | CA1220619240 | USH2A | c.2312_2315delinsAAGC (p.Glu771=)
| |
| 1 | g.216247080del | CA2586964558 | USH2A | c.2314del (p.Ala772ProfsTer16)
| |
| 1 | g.216247080C>A | CA344865111 | USH2A | c.2314G>T (p.Ala772Ser)
| |
| 1 | g.216247080C= | CA1220619241 | USH2A | c.2314G= (p.Ala772=)
| |
| 1 | g.216247080C>G | CA344865113 | USH2A | c.2314G>C (p.Ala772Pro)
| |
| 1 | g.216247080C>T | CA344865115 | USH2A | c.2314G>A (p.Ala772Thr)
| dbSNP gnomAD v4 |
| 1 | g.216247083_216247085del | CA658823244 | USH2A | c.2312_2314del (p.Glu771del)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216247081T>A | CA344865117 | USH2A | c.2313A>T (p.Glu771Asp)
| |
| 1 | g.216247081T>C | CA423431445 | USH2A | c.2313A>G (p.Glu771=)
| |
| 1 | g.216247081T>G | CA344865119 | USH2A | c.2313A>C (p.Glu771Asp)
| |
| 1 | g.216247082T>A | CA344865123 | USH2A | c.2312A>T (p.Glu771Val)
| |
| 1 | g.216247082T>C | CA344865125 | USH2A | c.2312A>G (p.Glu771Gly)
| |
| 1 | g.216247082T>G | CA344865121 | USH2A | c.2312A>C (p.Glu771Ala)
| |
| 1 | g.216247083C>A | CA344865131 | USH2A | c.2311G>T (p.Glu771Ter)
| dbSNP |
| 1 | g.216247083C= | CA1220619242 | USH2A | c.2311G= (p.Glu771=)
| |
| 1 | g.216247083C>G | CA344865128 | USH2A | c.2311G>C (p.Glu771Gln)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216247083C>T | CA344865129 | USH2A | c.2311G>A (p.Glu771Lys)
| |
| 1 | g.216247083_216247084delinsG | CA2586964559 | USH2A | c.2310_2311delinsC (p.Lys770AsnfsTer18)
| |
| 1 | g.216247084T>A | CA344865134 | USH2A | c.2310A>T (p.Lys770Asn)
| |
| 1 | g.216247084T>C | CA423431450 | USH2A | c.2310A>G (p.Lys770=)
| |
| 1 | g.216247084T>G | CA344865135 | USH2A | c.2310A>C (p.Lys770Asn)
| |
| 1 | g.216247089dup | CA1220619243 | USH2A | c.2310dup (p.Glu771ArgfsTer8)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216247089del | CA645515383 | USH2A | c.2310del (p.Glu771LysfsTer17)
| ClinVar COSMIC COSMIC COSMIC |
| 1 | g.216247085T>A | CA344865136 | USH2A | c.2309A>T (p.Lys770Ile)
| |
| 1 | g.216247085T>C | CA37501437 | USH2A | c.2309A>G (p.Lys770Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216247085T>G | CA344865139 | USH2A | c.2309A>C (p.Lys770Thr)
| |
| 1 | g.216247085T= | CA1220619244 | USH2A | c.2309A= (p.Lys770=)
| |
| 1 | g.216247086T>A | CA344865141 | USH2A | c.2308A>T (p.Lys770Ter)
| |
| 1 | g.216247086T>C | CA1396249 | USH2A | c.2308A>G (p.Lys770Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247086T>G | CA344865144 | USH2A | c.2308A>C (p.Lys770Gln)
| |
| 1 | g.216247086T= | CA1220619245 | USH2A | c.2308A= (p.Lys770=)
| |
| 1 | g.216247087T>A | CA344865146 | USH2A | c.2307A>T (p.Lys769Asn)
| |
| 1 | g.216247087T>C | CA423431455 | USH2A | c.2307A>G (p.Lys769=)
| ClinVar |
| 1 | g.216247087T>G | CA344865148 | USH2A | c.2307A>C (p.Lys769Asn)
| gnomAD v4 |
| 1 | g.216247088T>A | CA344865152 | USH2A | c.2306A>T (p.Lys769Ile)
| gnomAD v4 |
| 1 | g.216247088T>C | CA344865154 | USH2A | c.2306A>G (p.Lys769Arg)
| |
| 1 | g.216247088T>G | CA344865150 | USH2A | c.2306A>C (p.Lys769Thr)
| |
| 1 | g.216247089T>A | CA344865156 | USH2A | c.2305A>T (p.Lys769Ter)
| |
| 1 | g.216247089T>C | CA344865158 | USH2A | c.2305A>G (p.Lys769Glu)
| ClinVar dbSNP |
| 1 | g.216247089T>G | CA344865159 | USH2A | c.2305A>C (p.Lys769Gln)
| |
| 1 | g.216247090G>A | CA423431458 | USH2A | c.2304C>T (p.Cys768=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216247090G>C | CA344865162 | USH2A | c.2304C>G (p.Cys768Trp)
| |
| 1 | g.216247090G= | CA1220619246 | USH2A | c.2304C= (p.Cys768=)
| |
| 1 | g.216247090G>T | CA10588282 | USH2A | c.2304C>A (p.Cys768Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216247091del | CA2499214518 | USH2A | c.2303del (p.Cys768SerfsTer20)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216247091C>A | CA344865168 | USH2A | c.2303G>T (p.Cys768Phe)
| |
| 1 | g.216247091C= | CA1220619247 | USH2A | c.2303G= (p.Cys768=)
| |
| 1 | g.216247091C>G | CA344865164 | USH2A | c.2303G>C (p.Cys768Ser)
| |
| 1 | g.216247091C>T | CA344865166 | USH2A | c.2303G>A (p.Cys768Tyr)
| dbSNP |
| 1 | g.216247092A= | CA1220619248 | USH2A | c.2302T= (p.Cys768=)
| |
| 1 | g.216247092A>C | CA344865170 | USH2A | c.2302T>G (p.Cys768Gly)
| |
| 1 | g.216247092A>G | CA37501454 | USH2A | c.2302T>C (p.Cys768Arg)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216247092A>T | CA344865174 | USH2A | c.2302T>A (p.Cys768Ser)
| |
| 1 | g.216247093del | CA2580062144 | USH2A | c.2301del (p.Glu767AspfsTer21)
| ClinVar |
| 1 | g.216247093C>A | CA344865175 | USH2A | c.2301G>T (p.Glu767Asp)
| |
| 1 | g.216247093C>G | CA344865177 | USH2A | c.2301G>C (p.Glu767Asp)
| |
| 1 | g.216247093C>T | CA423431464 | USH2A | c.2301G>A (p.Glu767=)
| |
| 1 | g.216247094T>A | CA344865182 | USH2A | c.2300A>T (p.Glu767Val)
| |
| 1 | g.216247094T>C | CA344865181 | USH2A | c.2300A>G (p.Glu767Gly)
| |
| 1 | g.216247094T>G | CA344865180 | USH2A | c.2300A>C (p.Glu767Ala)
| COSMIC COSMIC COSMIC |
| 1 | g.216247094_216247095delinsTC | CA1220619249 | USH2A | c.2299_2300delinsGA (p.Glu767=)
| |
| 1 | g.216247095del | CA252226 | USH2A | c.2299del (p.Glu767SerfsTer21)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247095C>A | CA344865186 | USH2A | c.2299G>T (p.Glu767Ter)
| gnomAD v4 |
| 1 | g.216247095C= | CA1141188247 | USH2A | c.2299G= (p.Glu767=)
| |
| 1 | g.216247095C>G | CA344865188 | USH2A | c.2299G>C (p.Glu767Gln)
| |
| 1 | g.216247095C>T | CA344865190 | USH2A | c.2299G>A (p.Glu767Lys)
| gnomAD v4 |
| 1 | g.216247096del | CA344865197 | USH2A | c.2298del (p.Cys766TrpfsTer22)
| |
| 1 | g.216247096A>C | CA344865194 | USH2A | c.2298T>G (p.Cys766Trp)
| |
| 1 | g.216247096A>G | CA423431470 | USH2A | c.2298T>C (p.Cys766=)
| |
| 1 | g.216247096A>T | CA344865195 | USH2A | c.2298T>A (p.Cys766Ter)
| |
| 1 | g.216247097C>A | CA344865199 | USH2A | c.2297G>T (p.Cys766Phe)
| dbSNP |
| 1 | g.216247097C= | CA1220619250 | USH2A | c.2297G= (p.Cys766=)
| |
| 1 | g.216247097C>G | CA344865201 | USH2A | c.2297G>C (p.Cys766Ser)
| |
| 1 | g.216247097C>T | CA344865203 | USH2A | c.2297G>A (p.Cys766Tyr)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216247098A= | CA1143614340 | USH2A | c.2296T= (p.Cys766=)
| |
| 1 | g.216247098A>C | CA344865205 | USH2A | c.2296T>G (p.Cys766Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216247098A>G | CA1396250 | USH2A | c.2296T>C (p.Cys766Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247098A>T | CA344865207 | USH2A | c.2296T>A (p.Cys766Ser)
| ClinVar |
| 1 | g.216247099C>A | CA344865210 | USH2A | c.2295G>T (p.Gln765His)
| |
| 1 | g.216247099C>G | CA344865208 | USH2A | c.2295G>C (p.Gln765His)
| COSMIC COSMIC COSMIC |
| 1 | g.216247099C>T | CA423431475 | USH2A | c.2295G>A (p.Gln765=)
| |
