| 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=)
| |
| 1 | g.216247100T>A | CA344865212 | USH2A | c.2294A>T (p.Gln765Leu)
| COSMIC COSMIC COSMIC |
| 1 | g.216247100T>C | CA1396251 | USH2A | c.2294A>G (p.Gln765Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216247100T>G | CA344865215 | USH2A | c.2294A>C (p.Gln765Pro)
| |
| 1 | g.216247100T= | CA1220619251 | USH2A | c.2294A= (p.Gln765=)
| |
| 1 | g.216247100_216247101delinsTG | CA1220619252 | USH2A | c.2293_2294delinsCA (p.Gln765=)
| |
| 1 | g.216247101del | CA916082144 | USH2A | c.2293del (p.Gln765SerfsTer23)
| ClinVar dbSNP |
| 1 | g.216247101G>A | CA344865218 | USH2A | c.2293C>T (p.Gln765Ter)
| ClinVar dbSNP |
| 1 | g.216247101G>C | CA344865219 | USH2A | c.2293C>G (p.Gln765Glu)
| ClinVar dbSNP |
| 1 | g.216247101G= | CA1220619253 | USH2A | c.2293C= (p.Gln765=)
| |
| 1 | g.216247101G>T | CA1396252 | USH2A | c.2293C>A (p.Gln765Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216247102C>A | CA423431479 | USH2A | c.2292G>T (p.Gly764=)
| |
| 1 | g.216247102C= | CA1141900920 | USH2A | c.2292G= (p.Gly764=)
| |
| 1 | g.216247102C>G | CA423431481 | USH2A | c.2292G>C (p.Gly764=)
| |
| 1 | g.216247102C>T | CA1396253 | USH2A | c.2292G>A (p.Gly764=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247103C>A | CA344865223 | USH2A | c.2291G>T (p.Gly764Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216247103C= | CA1220619254 | USH2A | c.2291G= (p.Gly764=)
| |
| 1 | g.216247103C>G | CA344865224 | USH2A | c.2291G>C (p.Gly764Ala)
| |
| 1 | g.216247103C>T | CA344865226 | USH2A | c.2291G>A (p.Gly764Glu)
| COSMIC COSMIC COSMIC |
| 1 | g.216247104C>A | CA344865227 | USH2A | c.2290G>T (p.Gly764Trp)
| |
| 1 | g.216247104C= | CA1220619255 | USH2A | c.2290G= (p.Gly764=)
| |
| 1 | g.216247104C>G | CA344865229 | USH2A | c.2290G>C (p.Gly764Arg)
| |
| 1 | g.216247104C>T | CA344865231 | USH2A | c.2290G>A (p.Gly764Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216247105A= | CA1220619256 | USH2A | c.2289T= (p.Ser763=)
| |
| 1 | g.216247105A>C | CA423431487 | USH2A | c.2289T>G (p.Ser763=)
| |
| 1 | g.216247105A>G | CA423431489 | USH2A | c.2289T>C (p.Ser763=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247105A>T | CA423431491 | USH2A | c.2289T>A (p.Ser763=)
| |
| 1 | g.216247106G>A | CA344865237 | USH2A | c.2288C>T (p.Ser763Phe)
| |
| 1 | g.216247106G>C | CA344865235 | USH2A | c.2288C>G (p.Ser763Cys)
| |
| 1 | g.216247106G>T | CA344865233 | USH2A | c.2288C>A (p.Ser763Tyr)
| |
| 1 | g.216247107A>C | CA344865239 | USH2A | c.2287T>G (p.Ser763Ala)
| |
| 1 | g.216247107A>G | CA344865243 | USH2A | c.2287T>C (p.Ser763Pro)
| gnomAD v4 |
| 1 | g.216247107A>T | CA344865241 | USH2A | c.2287T>A (p.Ser763Thr)
| |
| 1 | g.216247108G>A | CA423431494 | USH2A | c.2286C>T (p.His762=)
| |
| 1 | g.216247108G>C | CA344865244 | USH2A | c.2286C>G (p.His762Gln)
| dbSNP |
| 1 | g.216247108G= | CA1220619257 | USH2A | c.2286C= (p.His762=)
| |
| 1 | g.216247108G>T | CA344865246 | USH2A | c.2286C>A (p.His762Gln)
| gnomAD v4 |
| 1 | g.216247109T>A | CA344865249 | USH2A | c.2285A>T (p.His762Leu)
| |
| 1 | g.216247109T>C | CA344865251 | USH2A | c.2285A>G (p.His762Arg)
| |
| 1 | g.216247109T>G | CA344865253 | USH2A | c.2285A>C (p.His762Pro)
| |
| 1 | g.216247110G>A | CA1396254 | USH2A | c.2284C>T (p.His762Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216247110G>C | CA344865256 | USH2A | c.2284C>G (p.His762Asp)
| |
| 1 | g.216247110G= | CA1220619258 | USH2A | c.2284C= (p.His762=)
| |
| 1 | g.216247110G>T | CA344865258 | USH2A | c.2284C>A (p.His762Asn)
| |
| 1 | g.216247111A>C | CA423431497 | USH2A | c.2283T>G (p.Pro761=)
| |
| 1 | g.216247111A>G | CA423431499 | USH2A | c.2283T>C (p.Pro761=)
| |
| 1 | g.216247111A>T | CA423431500 | USH2A | c.2283T>A (p.Pro761=)
| |
| 1 | g.216247112G>A | CA344865260 | USH2A | c.2282C>T (p.Pro761Leu)
| |
| 1 | g.216247112G>C | CA344865261 | USH2A | c.2282C>G (p.Pro761Arg)
| |
| 1 | g.216247112G>T | CA344865263 | USH2A | c.2282C>A (p.Pro761His)
| |
| 1 | g.216247113G>A | CA344865265 | USH2A | c.2281C>T (p.Pro761Ser)
| |
| 1 | g.216247113G>C | CA344865267 | USH2A | c.2281C>G (p.Pro761Ala)
| |
| 1 | g.216247113G>T | CA344865268 | USH2A | c.2281C>A (p.Pro761Thr)
| |
| 1 | g.216247113_216247115delinsGAT | CA1220619259 | USH2A | c.2279_2281delinsATC (p.Asn760=)
| |
| 1 | g.216247114A>C | CA344865270 | USH2A | c.2280T>G (p.Asn760Lys)
| |
| 1 | g.216247114A>G | CA423431504 | USH2A | c.2280T>C (p.Asn760=)
| |
| 1 | g.216247114A>T | CA344865272 | USH2A | c.2280T>A (p.Asn760Lys)
| |
| 1 | g.216247114_216247115del | CA658795594 | USH2A | c.2279_2280del (p.Asn760ThrfsTer7)
| ClinVar dbSNP |
| 1 | g.216247115T>A | CA344865274 | USH2A | c.2279A>T (p.Asn760Ile)
| |
| 1 | g.216247115T>C | CA1396255 | USH2A | c.2279A>G (p.Asn760Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247115T>G | CA344865277 | USH2A | c.2279A>C (p.Asn760Thr)
| |
| 1 | g.216247115T= | CA1220619260 | USH2A | c.2279A= (p.Asn760=)
| |
| 1 | g.216247116T>A | CA344865279 | USH2A | c.2278A>T (p.Asn760Tyr)
| |
| 1 | g.216247116T>C | CA344865280 | USH2A | c.2278A>G (p.Asn760Asp)
| COSMIC COSMIC COSMIC |
| 1 | g.216247116T>G | CA344865281 | USH2A | c.2278A>C (p.Asn760His)
| |
| 1 | g.216247117G>A | CA423431508 | USH2A | c.2277C>T (p.Cys759=)
| |
| 1 | g.216247117G>C | CA344865283 | USH2A | c.2277C>G (p.Cys759Trp)
| |
| 1 | g.216247117G>T | CA344865285 | USH2A | c.2277C>A (p.Cys759Ter)
| |
| 1 | g.216247118C>A | CA252233 | USH2A | c.2276G>T (p.Cys759Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247118C= | CA1141188248 | USH2A | c.2276G= (p.Cys759=)
| |
| 1 | g.216247118C>G | CA344865287 | USH2A | c.2276G>C (p.Cys759Ser)
| |
| 1 | g.216247118C>T | CA344865290 | USH2A | c.2276G>A (p.Cys759Tyr)
| |
| 1 | g.216247119A>C | CA344865293 | USH2A | c.2275T>G (p.Cys759Gly)
| |
| 1 | g.216247119A>G | CA344865295 | USH2A | c.2275T>C (p.Cys759Arg)
| |
| 1 | g.216247119A>T | CA344865292 | USH2A | c.2275T>A (p.Cys759Ser)
| |
| 1 | g.216247120G>A | CA423431514 | USH2A | c.2274C>T (p.Phe758=)
| |
| 1 | g.216247120G>C | CA37501495 | USH2A | c.2274C>G (p.Phe758Leu)
| dbSNP |
| 1 | g.216247120G= | CA1140726417 | USH2A | c.2274C= (p.Phe758=)
| |
| 1 | g.216247120G>T | CA344865297 | USH2A | c.2274C>A (p.Phe758Leu)
| |
| 1 | g.216247121A= | CA1220619261 | USH2A | c.2273T= (p.Phe758=)
| |
| 1 | g.216247121A>C | CA344865299 | USH2A | c.2273T>G (p.Phe758Cys)
| |
| 1 | g.216247121A>G | CA344865300 | USH2A | c.2273T>C (p.Phe758Ser)
| |
| 1 | g.216247121A>T | CA344865302 | USH2A | c.2273T>A (p.Phe758Tyr)
| dbSNP |
| 1 | g.216247121_216247122insCAACAAACCAAACACACCCAACAC | CA2747735793 | USH2A | c.2272_2273insGTGTTGGGTGTGTTTGGTTTGTTG (p.Phe758delinsCysValGlyCysValTrpPheValVal)
| |
| 1 | g.216247122A>C | CA344865307 | USH2A | c.2272T>G (p.Phe758Val)
| |
| 1 | g.216247122A>G | CA344865304 | USH2A | c.2272T>C (p.Phe758Leu)
| |
| 1 | g.216247122A>T | CA344865306 | USH2A | c.2272T>A (p.Phe758Ile)
| |
| 1 | g.216247123T>A | CA344865309 | USH2A | c.2271A>T (p.Lys757Asn)
| |
| 1 | g.216247123T>C | CA423431519 | USH2A | c.2271A>G (p.Lys757=)
| |
| 1 | g.216247123T>G | CA344865311 | USH2A | c.2271A>C (p.Lys757Asn)
| |
| 1 | g.216247124T>A | CA1396256 | USH2A | c.2270A>T (p.Lys757Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216247124T>C | CA344865314 | USH2A | c.2270A>G (p.Lys757Arg)
| |
| 1 | g.216247124T>G | CA344865315 | USH2A | c.2270A>C (p.Lys757Thr)
| |
| 1 | g.216247124T= | CA1220619262 | USH2A | c.2270A= (p.Lys757=)
| |
| 1 | g.216247125T>A | CA344865317 | USH2A | c.2269A>T (p.Lys757Ter)
| ClinVar |
| 1 | g.216247125T>C | CA344865320 | USH2A | c.2269A>G (p.Lys757Glu)
| gnomAD v4 |
| 1 | g.216247125T>G | CA344865319 | USH2A | c.2269A>C (p.Lys757Gln)
| |
| 1 | g.216247126G>A | CA423431524 | USH2A | c.2268C>T (p.Asn756=)
| |
| 1 | g.216247126G>C | CA344865322 | USH2A | c.2268C>G (p.Asn756Lys)
| COSMIC COSMIC COSMIC |
| 1 | g.216247126G>T | CA344865323 | USH2A | c.2268C>A (p.Asn756Lys)
| |
| 1 | g.216247127T>A | CA344865325 | USH2A | c.2267A>T (p.Asn756Ile)
| |
| 1 | g.216247127T>C | CA344865326 | USH2A | c.2267A>G (p.Asn756Ser)
| |
| 1 | g.216247127T>G | CA344865328 | USH2A | c.2267A>C (p.Asn756Thr)
| |
| 1 | g.216247128T>A | CA344865331 | USH2A | c.2266A>T (p.Asn756Tyr)
| |
| 1 | g.216247128T>C | CA344865333 | USH2A | c.2266A>G (p.Asn756Asp)
| |
| 1 | g.216247128T>G | CA344865335 | USH2A | c.2266A>C (p.Asn756His)
| |
| 1 | g.216247129C>A | CA423431529 | USH2A | c.2265G>T (p.Val755=)
| |
| 1 | g.216247129C>G | CA423431531 | USH2A | c.2265G>C (p.Val755=)
| |
| 1 | g.216247129C>T | CA423431534 | USH2A | c.2265G>A (p.Val755=)
| |
| 1 | g.216247130A>C | CA344865337 | USH2A | c.2264T>G (p.Val755Gly)
| |
| 1 | g.216247130A>G | CA344865338 | USH2A | c.2264T>C (p.Val755Ala)
| |
| 1 | g.216247130A>T | CA344865340 | USH2A | c.2264T>A (p.Val755Glu)
| |
| 1 | g.216247131C>A | CA344865356 | USH2A | c.2263G>T (p.Val755Leu)
| |
| 1 | g.216247131C>G | CA344865354 | USH2A | c.2263G>C (p.Val755Leu)
| |
| 1 | g.216247131C>T | CA344865352 | USH2A | c.2263G>A (p.Val755Met)
| |
| 1 | g.216247132T>A | CA423431537 | USH2A | c.2262A>T (p.Ser754=)
| |
| 1 | g.216247132T>C | CA423431538 | USH2A | c.2262A>G (p.Ser754=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216247132T>G | CA423431539 | USH2A | c.2262A>C (p.Ser754=)
| |
| 1 | g.216247132T= | CA1220619263 | USH2A | c.2262A= (p.Ser754=)
| |
| 1 | g.216247133G>A | CA344865358 | USH2A | c.2261C>T (p.Ser754Leu)
| ClinVar gnomAD v4 |
| 1 | g.216247133G>C | CA344865360 | USH2A | c.2261C>G (p.Ser754Ter)
| |
| 1 | g.216247133G>T | CA344865361 | USH2A | c.2261C>A (p.Ser754Ter)
| |
| 1 | g.216247134A>C | CA344865363 | USH2A | c.2260T>G (p.Ser754Ala)
| |
| 1 | g.216247134A>G | CA344865365 | USH2A | c.2260T>C (p.Ser754Pro)
| |
| 1 | g.216247134A>T | CA344865367 | USH2A | c.2260T>A (p.Ser754Thr)
| |
| 1 | g.216247135G>A | CA423431545 | USH2A | c.2259C>T (p.Gly753=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247135G>C | CA423431546 | USH2A | c.2259C>G (p.Gly753=)
| |
| 1 | g.216247135G= | CA1220619264 | USH2A | c.2259C= (p.Gly753=)
| |
| 1 | g.216247135G>T | CA423431548 | USH2A | c.2259C>A (p.Gly753=)
| |
| 1 | g.216247136C>A | CA344865375 | USH2A | c.2258G>T (p.Gly753Val)
| |
| 1 | g.216247136C>G | CA344865373 | USH2A | c.2258G>C (p.Gly753Ala)
| |
| 1 | g.216247136C>T | CA344865371 | USH2A | c.2258G>A (p.Gly753Asp)
| ClinVar COSMIC COSMIC COSMIC |
| 1 | g.216247137C>A | CA344865377 | USH2A | c.2257G>T (p.Gly753Cys)
| gnomAD v4 |
| 1 | g.216247137C= | CA1220619265 | USH2A | c.2257G= (p.Gly753=)
| |
| 1 | g.216247137C>G | CA344865379 | USH2A | c.2257G>C (p.Gly753Arg)
| |
| 1 | g.216247137C>T | CA344865381 | USH2A | c.2257G>A (p.Gly753Ser)
| dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
