| 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 |
| 1 | g.216247138A= | CA1141189309 | USH2A | c.2256T= (p.His752=)
| |
| 1 | g.216247138A>C | CA344865383 | USH2A | c.2256T>G (p.His752Gln)
| |
| 1 | g.216247138A>G | CA143440 | USH2A | c.2256T>C (p.His752=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247138A>T | CA344865385 | USH2A | c.2256T>A (p.His752Gln)
| |
| 1 | g.216247139T>A | CA344865387 | USH2A | c.2255A>T (p.His752Leu)
| |
| 1 | g.216247139T>C | CA1396257 | USH2A | c.2255A>G (p.His752Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216247139T>G | CA344865389 | USH2A | c.2255A>C (p.His752Pro)
| |
| 1 | g.216247139T= | CA1220619266 | USH2A | c.2255A= (p.His752=)
| |
| 1 | g.216247140G>A | CA344865392 | USH2A | c.2254C>T (p.His752Tyr)
| gnomAD v4 |
| 1 | g.216247140G>C | CA344865394 | USH2A | c.2254C>G (p.His752Asp)
| |
| 1 | g.216247140G>T | CA344865396 | USH2A | c.2254C>A (p.His752Asn)
| |
| 1 | g.216247141G>A | CA1396258 | USH2A | c.2253C>T (p.Leu751=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216247141G>C | CA423431558 | USH2A | c.2253C>G (p.Leu751=)
| |
| 1 | g.216247141G= | CA1220619267 | USH2A | c.2253C= (p.Leu751=)
| |
| 1 | g.216247141G>T | CA423431557 | USH2A | c.2253C>A (p.Leu751=)
| |
| 1 | g.216247142A>C | CA344865399 | USH2A | c.2252T>G (p.Leu751Arg)
| |
| 1 | g.216247142A>G | CA344865401 | USH2A | c.2252T>C (p.Leu751Pro)
| gnomAD v4 |
| 1 | g.216247142A>T | CA344865402 | USH2A | c.2252T>A (p.Leu751His)
| |
| 1 | g.216247143G>A | CA344865404 | USH2A | c.2251C>T (p.Leu751Phe)
| gnomAD v4 |
| 1 | g.216247143G>C | CA344865406 | USH2A | c.2251C>G (p.Leu751Val)
| |
| 1 | g.216247143G= | CA1220619268 | USH2A | c.2251C= (p.Leu751=)
| |
| 1 | g.216247143G>T | CA344865408 | USH2A | c.2251C>A (p.Leu751Ile)
| dbSNP gnomAD v4 |
| 1 | g.216247144del | CA2580062151 | USH2A | c.2251del (p.Leu751SerfsTer5)
| ClinVar |
| 1 | g.216247144G>A | CA423431567 | USH2A | c.2250C>T (p.Asn750=)
| |
| 1 | g.216247144G>C | CA344865409 | USH2A | c.2250C>G (p.Asn750Lys)
| |
| 1 | g.216247144G= | CA1220619269 | USH2A | c.2250C= (p.Asn750=)
| |
| 1 | g.216247144G>T | CA344865412 | USH2A | c.2250C>A (p.Asn750Lys)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216247145T>A | CA344865414 | USH2A | c.2249A>T (p.Asn750Ile)
| |
| 1 | g.216247145T>C | CA344865419 | USH2A | c.2249A>G (p.Asn750Ser)
| COSMIC COSMIC COSMIC |
| 1 | g.216247145T>G | CA344865416 | USH2A | c.2249A>C (p.Asn750Thr)
| |
| 1 | g.216247146T>A | CA344865421 | USH2A | c.2248A>T (p.Asn750Tyr)
| |
| 1 | g.216247146T>C | CA344865423 | USH2A | c.2248A>G (p.Asn750Asp)
| gnomAD v4 |
| 1 | g.216247146T>G | CA344865426 | USH2A | c.2248A>C (p.Asn750His)
| |
| 1 | g.216247146_216247161delinsTACACTGGCAGGGCTC | CA1220619270 | USH2A | c.2233_2248delinsGAGCCCTGCCAGTGTA (p.Glu745=)
| |
| 1 | g.216247147A>C | CA344865428 | USH2A | c.2247T>G (p.Cys749Trp)
| |
| 1 | g.216247147A>G | CA423431581 | USH2A | c.2247T>C (p.Cys749=)
| |
| 1 | g.216247147A>T | CA344865430 | USH2A | c.2247T>A (p.Cys749Ter)
| |
| 1 | g.216247150_216247164del | CA1220619271 | USH2A | c.2233_2247del (p.Glu745_Cys749del)
| dbSNP |
| 1 | g.216247148C>A | CA344865432 | USH2A | c.2246G>T (p.Cys749Phe)
| |
| 1 | g.216247148C>G | CA344865434 | USH2A | c.2246G>C (p.Cys749Ser)
| |
| 1 | g.216247148C>T | CA344865435 | USH2A | c.2246G>A (p.Cys749Tyr)
| COSMIC COSMIC COSMIC |
| 1 | g.216247149A= | CA1220619272 | USH2A | c.2245T= (p.Cys749=)
| |
| 1 | g.216247149A>C | CA344865438 | USH2A | c.2245T>G (p.Cys749Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216247149A>G | CA344865440 | USH2A | c.2245T>C (p.Cys749Arg)
| ClinVar gnomAD v4 |
| 1 | g.216247149A>T | CA344865442 | USH2A | c.2245T>A (p.Cys749Ser)
| gnomAD v4 |
| 1 | g.216247150C>A | CA344865444 | USH2A | c.2244G>T (p.Gln748His)
| dbSNP |
| 1 | g.216247150C= | CA1220619273 | USH2A | c.2244G= (p.Gln748=)
| |
| 1 | g.216247150C>G | CA344865445 | USH2A | c.2244G>C (p.Gln748His)
| |
| 1 | g.216247150C>T | CA423431593 | USH2A | c.2244G>A (p.Gln748=)
| |
| 1 | g.216247151T>A | CA344865447 | USH2A | c.2243A>T (p.Gln748Leu)
| |
| 1 | g.216247151T>C | CA344865451 | USH2A | c.2243A>G (p.Gln748Arg)
| |
| 1 | g.216247151T>G | CA344865449 | USH2A | c.2243A>C (p.Gln748Pro)
| |
| 1 | g.216247152G>A | CA344865452 | USH2A | c.2242C>T (p.Gln748Ter)
| |
| 1 | g.216247152G>C | CA344865453 | USH2A | c.2242C>G (p.Gln748Glu)
| |
| 1 | g.216247152G= | CA1220619274 | USH2A | c.2242C= (p.Gln748=)
| |
| 1 | g.216247152G>T | CA37501509 | USH2A | c.2242C>A (p.Gln748Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216247153G>A | CA423431600 | USH2A | c.2241C>T (p.Cys747=)
| ClinVar dbSNP |
| 1 | g.216247153G>C | CA344865456 | USH2A | c.2241C>G (p.Cys747Trp)
| |
| 1 | g.216247153G>T | CA344865458 | USH2A | c.2241C>A (p.Cys747Ter)
| |
| 1 | g.216247154C>A | CA344865460 | USH2A | c.2240G>T (p.Cys747Phe)
| |
| 1 | g.216247154C>G | CA344865462 | USH2A | c.2240G>C (p.Cys747Ser)
| |
| 1 | g.216247154C>T | CA344865464 | USH2A | c.2240G>A (p.Cys747Tyr)
| |
| 1 | g.216247155A>C | CA344865467 | USH2A | c.2239T>G (p.Cys747Gly)
| |
| 1 | g.216247155A>G | CA344865469 | USH2A | c.2239T>C (p.Cys747Arg)
| |
| 1 | g.216247155A>T | CA344865470 | USH2A | c.2239T>A (p.Cys747Ser)
| |
| 1 | g.216247156G>A | CA423431603 | USH2A | c.2238C>T (p.Pro746=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216247156G>C | CA423431607 | USH2A | c.2238C>G (p.Pro746=)
| |
| 1 | g.216247156G>T | CA423431608 | USH2A | c.2238C>A (p.Pro746=)
| ClinVar gnomAD v4 |
| 1 | g.216247157G>A | CA344865474 | USH2A | c.2237C>T (p.Pro746Leu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216247157G>C | CA344865476 | USH2A | c.2237C>G (p.Pro746Arg)
| |
| 1 | g.216247157G= | CA1220619275 | USH2A | c.2237C= (p.Pro746=)
| |
| 1 | g.216247157G>T | CA344865472 | USH2A | c.2237C>A (p.Pro746His)
| |
| 1 | g.216247158G>A | CA344865480 | USH2A | c.2236C>T (p.Pro746Ser)
| |
| 1 | g.216247158G>C | CA344865478 | USH2A | c.2236C>G (p.Pro746Ala)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216247158G= | CA1220619276 | USH2A | c.2236C= (p.Pro746=)
| |
| 1 | g.216247158G>T | CA344865482 | USH2A | c.2236C>A (p.Pro746Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216247159C>A | CA344865484 | USH2A | c.2235G>T (p.Glu745Asp)
| |
| 1 | g.216247159C>G | CA344865486 | USH2A | c.2235G>C (p.Glu745Asp)
| gnomAD v4 |
| 1 | g.216247159C>T | CA423431616 | USH2A | c.2235G>A (p.Glu745=)
| |
| 1 | g.216247160T>A | CA344865488 | USH2A | c.2234A>T (p.Glu745Val)
| |
| 1 | g.216247160T>C | CA344865490 | USH2A | c.2234A>G (p.Glu745Gly)
| |
| 1 | g.216247160T>G | CA344865492 | USH2A | c.2234A>C (p.Glu745Ala)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216247160T= | CA1220619277 | USH2A | c.2234A= (p.Glu745=)
| |
| 1 | g.216247161C>A | CA344865494 | USH2A | c.2233G>T (p.Glu745Ter)
| |
| 1 | g.216247161C= | CA1220619278 | USH2A | c.2233G= (p.Glu745=)
| |
| 1 | g.216247161C>G | CA344865496 | USH2A | c.2233G>C (p.Glu745Gln)
| |
| 1 | g.216247161C>T | CA344865498 | USH2A | c.2233G>A (p.Glu745Lys)
| dbSNP |
| 1 | g.216247162A>C | CA344865500 | USH2A | c.2232T>G (p.Cys744Trp)
| |
| 1 | g.216247162A>G | CA423431625 | USH2A | c.2232T>C (p.Cys744=)
| |
| 1 | g.216247162A>T | CA344865502 | USH2A | c.2232T>A (p.Cys744Ter)
| ClinVar |
| 1 | g.216247162_216247166delinsACATC | CA1220619279 | USH2A | c.2228_2232delinsGATGT (p.Gly743=)
| |
| 1 | g.216247163C>A | CA344865504 | USH2A | c.2231G>T (p.Cys744Phe)
| |
| 1 | g.216247163C= | CA1220619280 | USH2A | c.2231G= (p.Cys744=)
| |
| 1 | g.216247163C>G | CA344865505 | USH2A | c.2231G>C (p.Cys744Ser)
| |
| 1 | g.216247163C>T | CA1396259 | USH2A | c.2231G>A (p.Cys744Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216247165_216247168del | CA529002644 | USH2A | c.2228_2231del (p.Gly743ValfsTer12)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216247164A>C | CA344865511 | USH2A | c.2230T>G (p.Cys744Gly)
| |
| 1 | g.216247164A>G | CA344865510 | USH2A | c.2230T>C (p.Cys744Arg)
| |
| 1 | g.216247164A>T | CA344865508 | USH2A | c.2230T>A (p.Cys744Ser)
| |
| 1 | g.216247165T>A | CA423431645 | USH2A | c.2229A>T (p.Gly743=)
| |
| 1 | g.216247165T>C | CA1396260 | USH2A | c.2229A>G (p.Gly743=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247165T>G | CA423431643 | USH2A | c.2229A>C (p.Gly743=)
| |
| 1 | g.216247165T= | CA1143754645 | USH2A | c.2229A= (p.Gly743=)
| |
| 1 | g.216247166C>A | CA183760 | USH2A | c.2228G>T (p.Gly743Val)
| ClinVar dbSNP |
| 1 | g.216247166C= | CA1148224997 | USH2A | c.2228G= (p.Gly743=)
| |
| 1 | g.216247166C>G | CA344865515 | USH2A | c.2228G>C (p.Gly743Ala)
| ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216247166C>T | CA344865517 | USH2A | c.2228G>A (p.Gly743Glu)
| |
| 1 | g.216247167C>A | CA344865519 | USH2A | c.2227G>T (p.Gly743Ter)
| |
| 1 | g.216247167C>G | CA344865520 | USH2A | c.2227G>C (p.Gly743Arg)
| |
| 1 | g.216247167C>T | CA344865522 | USH2A | c.2227G>A (p.Gly743Arg)
| gnomAD v4 |
| 1 | g.216247168A>C | CA423431650 | USH2A | c.2226T>G (p.Val742=)
| |
| 1 | g.216247168A>G | CA423431653 | USH2A | c.2226T>C (p.Val742=)
| ClinVar |
| 1 | g.216247168A>T | CA423431655 | USH2A | c.2226T>A (p.Val742=)
| |
| 1 | g.216247169A= | CA1220619281 | USH2A | c.2225T= (p.Val742=)
| |
| 1 | g.216247169A>C | CA344865524 | USH2A | c.2225T>G (p.Val742Gly)
| |
| 1 | g.216247169A>G | CA344865525 | USH2A | c.2225T>C (p.Val742Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.216247169A>T | CA344865526 | USH2A | c.2225T>A (p.Val742Asp)
| dbSNP |
| 1 | g.216247170C>A | CA344865529 | USH2A | c.2224G>T (p.Val742Phe)
| |
| 1 | g.216247170C>G | CA344865533 | USH2A | c.2224G>C (p.Val742Leu)
| |
| 1 | g.216247170C>T | CA344865535 | USH2A | c.2224G>A (p.Val742Ile)
| gnomAD v4 |
| 1 | g.216247171A= | CA1220619282 | USH2A | c.2223T= (p.Asp741=)
| |
| 1 | g.216247171A>C | CA344865539 | USH2A | c.2223T>G (p.Asp741Glu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216247171A>G | CA423431660 | USH2A | c.2223T>C (p.Asp741=)
| |
| 1 | g.216247171A>T | CA344865537 | USH2A | c.2223T>A (p.Asp741Glu)
| |
| 1 | g.216247172T>A | CA344865541 | USH2A | c.2222A>T (p.Asp741Val)
| |
| 1 | g.216247172T>C | CA344865543 | USH2A | c.2222A>G (p.Asp741Gly)
| |
| 1 | g.216247172T>G | CA344865545 | USH2A | c.2222A>C (p.Asp741Ala)
| |
| 1 | g.216247173C>A | CA344865547 | USH2A | c.2221G>T (p.Asp741Tyr)
| |
| 1 | g.216247173C>G | CA344865548 | USH2A | c.2221G>C (p.Asp741His)
| |
| 1 | g.216247173C>T | CA344865549 | USH2A | c.2221G>A (p.Asp741Asn)
| |
| 1 | g.216247174A= | CA1220619283 | USH2A | c.2220T= (p.Asn740=)
| |
| 1 | g.216247174A>C | CA344865551 | USH2A | c.2220T>G (p.Asn740Lys)
| |
| 1 | g.216247174A>G | CA423431664 | USH2A | c.2220T>C (p.Asn740=)
| |
| 1 | g.216247174A>T | CA344865552 | USH2A | c.2220T>A (p.Asn740Lys)
| |
| 1 | g.216247175T>A | CA344865554 | USH2A | c.2219A>T (p.Asn740Ile)
| |
| 1 | g.216247175T>C | CA1396261 | USH2A | c.2219A>G (p.Asn740Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216247175T>G | CA344865557 | USH2A | c.2219A>C (p.Asn740Thr)
| |
| 1 | g.216247175T= | CA1220619285 | USH2A | c.2219A= (p.Asn740=)
| |
| 1 | g.216247180_216247197dup | CA1220619284 | USH2A | c.2202_2219dup (p.Phe739_Asn740insLysPheLeuArgSerPhe)
| dbSNP |
| 1 | g.216247176T>A | CA344865560 | USH2A | c.2218A>T (p.Asn740Tyr)
| ClinVar dbSNP gnomAD v2 |
| 1 | g.216247176T>C | CA344865561 | USH2A | c.2218A>G (p.Asn740Asp)
| |
| 1 | g.216247176T>G | CA344865563 | USH2A | c.2218A>C (p.Asn740His)
| |
| 1 | g.216247176T= | CA1220619286 | USH2A | c.2218A= (p.Asn740=)
| |
| 1 | g.216247177A= | CA1220619287 | USH2A | c.2217T= (p.Phe739=)
| |
| 1 | g.216247177A>C | CA344865564 | USH2A | c.2217T>G (p.Phe739Leu)
| |
| 1 | g.216247177A>G | CA423431671 | USH2A | c.2217T>C (p.Phe739=)
| dbSNP gnomAD v2 COSMIC COSMIC COSMIC |
| 1 | g.216247177A>T | CA344865566 | USH2A | c.2217T>A (p.Phe739Leu)
| |
| 1 | g.216247179dup | CA2586964566 | USH2A | c.2217dup (p.Asn740Ter)
| gnomAD v4 |
| 1 | g.216247178A= | CA1220619288 | USH2A | c.2216T= (p.Phe739=)
| |
| 1 | g.216247178A>C | CA344865568 | USH2A | c.2216T>G (p.Phe739Cys)
| dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216247178A>G | CA344865570 | USH2A | c.2216T>C (p.Phe739Ser)
| |
| 1 | g.216247178A>T | CA344865572 | USH2A | c.2216T>A (p.Phe739Tyr)
| |
| 1 | g.216247179A= | CA1220619289 | USH2A | c.2215T= (p.Phe739=)
| |
| 1 | g.216247179A>C | CA344865574 | USH2A | c.2215T>G (p.Phe739Val)
| |
| 1 | g.216247179A>G | CA344865576 | USH2A | c.2215T>C (p.Phe739Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216247179A>T | CA344865578 | USH2A | c.2215T>A (p.Phe739Ile)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216247180G>A | CA1396262 | USH2A | c.2214C>T (p.Ser738=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216247180G>C | CA37501560 | USH2A | c.2214C>G (p.Ser738Arg)
| dbSNP |
| 1 | g.216247180G= | CA1220619290 | USH2A | c.2214C= (p.Ser738=)
| |
| 1 | g.216247180G>T | CA344865582 | USH2A | c.2214C>A (p.Ser738Arg)
| dbSNP gnomAD v4 |
| 1 | g.216247181C>A | CA344865585 | USH2A | c.2213G>T (p.Ser738Ile)
| |
| 1 | g.216247181C= | CA1220619291 | USH2A | c.2213G= (p.Ser738=)
| |
| 1 | g.216247181C>G | CA344865587 | USH2A | c.2213G>C (p.Ser738Thr)
| |
| 1 | g.216247181C>T | CA37501564 | USH2A | c.2213G>A (p.Ser738Asn)
| dbSNP gnomAD v4 |
| 1 | g.216247182T>A | CA344865594 | USH2A | c.2212A>T (p.Ser738Cys)
| |
| 1 | g.216247182T>C | CA1396263 | USH2A | c.2212A>G (p.Ser738Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247182T>G | CA344865590 | USH2A | c.2212A>C (p.Ser738Arg)
| |
| 1 | g.216247182T= | CA1220619292 | USH2A | c.2212A= (p.Ser738=)
| |
| 1 | g.216247183T>A | CA423431691 | USH2A | c.2211A>T (p.Arg737=)
| |
| 1 | g.216247183T>C | CA423431692 | USH2A | c.2211A>G (p.Arg737=)
| |
| 1 | g.216247183T>G | CA423431693 | USH2A | c.2211A>C (p.Arg737=)
| |
| 1 | g.216247184C>A | CA344865596 | USH2A | c.2210G>T (p.Arg737Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216247184C= | CA1220619293 | USH2A | c.2210G= (p.Arg737=)
| |
| 1 | g.216247184C>G | CA344865599 | USH2A | c.2210G>C (p.Arg737Pro)
| gnomAD v4 |
| 1 | g.216247184C>T | CA1396264 | USH2A | c.2210G>A (p.Arg737Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216247184_216247188del | CA2747735794 | USH2A | c.2206_2210del (p.Leu736LysfsTer3)
| |
| 1 | g.216247184_216247189del | CA2747735795 | USH2A | c.2205_2210del (p.Phe735_Arg737delinsLeu)
| |
| 1 | g.216247185G>A | CA252242 | USH2A | c.2209C>T (p.Arg737Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216247185G>C | CA344865601 | USH2A | c.2209C>G (p.Arg737Gly)
| gnomAD v4 |
| 1 | g.216247185G= | CA1141189310 | USH2A | c.2209C= (p.Arg737=)
| |
| 1 | g.216247185G>T | CA423431700 | USH2A | c.2209C>A (p.Arg737=)
| ClinVar |
| 1 | g.216247186G>A | CA423431706 | USH2A | c.2208C>T (p.Leu736=)
| |
| 1 | g.216247186G>C | CA423431703 | USH2A | c.2208C>G (p.Leu736=)
| |
| 1 | g.216247186G>T | CA423431704 | USH2A | c.2208C>A (p.Leu736=)
| dbSNP |
| 1 | g.216247187A>C | CA344865602 | USH2A | c.2207T>G (p.Leu736Arg)
| |
| 1 | g.216247187A>G | CA344865603 | USH2A | c.2207T>C (p.Leu736Pro)
| |
| 1 | g.216247187A>T | CA344865605 | USH2A | c.2207T>A (p.Leu736His)
| |
| 1 | g.216247188G>A | CA1396265 | USH2A | c.2206C>T (p.Leu736Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216247188G>C | CA344865608 | USH2A | c.2206C>G (p.Leu736Val)
| |
| 1 | g.216247188G= | CA1220619294 | USH2A | c.2206C= (p.Leu736=)
| |
| 1 | g.216247188G>T | CA344865610 | USH2A | c.2206C>A (p.Leu736Ile)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216247189A>C | CA344865612 | USH2A | c.2205T>G (p.Phe735Leu)
| |
| 1 | g.216247189A>G | CA423431715 | USH2A | c.2205T>C (p.Phe735=)
| gnomAD v4 |
| 1 | g.216247189A>T | CA344865613 | USH2A | c.2205T>A (p.Phe735Leu)
| |
| 1 | g.216247190A= | CA1220619295 | USH2A | c.2204T= (p.Phe735=)
| |
| 1 | g.216247190A>C | CA1396266 | USH2A | c.2204T>G (p.Phe735Cys)
| dbSNP ExAC gnomAD v2 |
| 1 | g.216247190A>G | CA344865616 | USH2A | c.2204T>C (p.Phe735Ser)
| |
| 1 | g.216247190A>T | CA344865618 | USH2A | c.2204T>A (p.Phe735Tyr)
| |
| 1 | g.216247191A= | CA1220619296 | USH2A | c.2203T= (p.Phe735=)
| |
| 1 | g.216247191A>C | CA344865620 | USH2A | c.2203T>G (p.Phe735Val)
| |
| 1 | g.216247191A>G | CA37501592 | USH2A | c.2203T>C (p.Phe735Leu)
| dbSNP |
| 1 | g.216247191A>T | CA344865622 | USH2A | c.2203T>A (p.Phe735Ile)
| |
| 1 | g.216247191_216247192del | CA2747735796 | USH2A | c.2202_2203del (p.Lys734AsnfsTer6)
| |
| 1 | g.216247192T>A | CA344865626 | USH2A | c.2202A>T (p.Lys734Asn)
| |
| 1 | g.216247192T>C | CA423431724 | USH2A | c.2202A>G (p.Lys734=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216247192T>G | CA344865630 | USH2A | c.2202A>C (p.Lys734Asn)
| |
| 1 | g.216247192T= | CA1220619297 | USH2A | c.2202A= (p.Lys734=)
| |
| 1 | g.216247193T>A | CA344865632 | USH2A | c.2201A>T (p.Lys734Ile)
| |
| 1 | g.216247193T>C | CA344865633 | USH2A | c.2201A>G (p.Lys734Arg)
| |
| 1 | g.216247193T>G | CA344865634 | USH2A | c.2201A>C (p.Lys734Thr)
| |
| 1 | g.216247193_216247195del | CA2747735797 | USH2A | c.2199_2201del (p.Phe733_Lys734delinsLeu)
| |
| 1 | g.216247194T>A | CA344865635 | USH2A | c.2200A>T (p.Lys734Ter)
| |
| 1 | g.216247194T>C | CA344865636 | USH2A | c.2200A>G (p.Lys734Glu)
| |
| 1 | g.216247194T>G | CA344865637 | USH2A | c.2200A>C (p.Lys734Gln)
| |
| 1 | g.216247195A>C | CA344865638 | USH2A | c.2199T>G (p.Phe733Leu)
| |
| 1 | g.216247195A>G | CA423431734 | USH2A | c.2199T>C (p.Phe733=)
| |
| 1 | g.216247195A>T | CA344865639 | USH2A | c.2199T>A (p.Phe733Leu)
| COSMIC COSMIC COSMIC |
| 1 | g.216247196A= | CA1220619298 | USH2A | c.2198T= (p.Phe733=)
| |
| 1 | g.216247196A>C | CA344865643 | USH2A | c.2198T>G (p.Phe733Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247196A>G | CA344865641 | USH2A | c.2198T>C (p.Phe733Ser)
| |
| 1 | g.216247196A>T | CA344865640 | USH2A | c.2198T>A (p.Phe733Tyr)
| |
| 1 | g.216247197A= | CA1220619299 | USH2A | c.2197T= (p.Phe733=)
| |
| 1 | g.216247197A>C | CA344865645 | USH2A | c.2197T>G (p.Phe733Val)
| |
| 1 | g.216247197A>G | CA344865647 | USH2A | c.2197T>C (p.Phe733Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216247197A>T | CA344865648 | USH2A | c.2197T>A (p.Phe733Ile)
| |
| 1 | g.216247198T>A | CA423431745 | USH2A | c.2196A>T (p.Gly732=)
| |
| 1 | g.216247198T>C | CA1396267 | USH2A | c.2196A>G (p.Gly732=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247198T>G | CA423431746 | USH2A | c.2196A>C (p.Gly732=)
| |
| 1 | g.216247198T= | CA1148429514 | USH2A | c.2196A= (p.Gly732=)
| |
| 1 | g.216247199C>A | CA344865650 | USH2A | c.2195G>T (p.Gly732Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247199C= | CA1220619300 | USH2A | c.2195G= (p.Gly732=)
| |
| 1 | g.216247199C>G | CA344865652 | USH2A | c.2195G>C (p.Gly732Ala)
| |
| 1 | g.216247199C>T | CA344865654 | USH2A | c.2195G>A (p.Gly732Glu)
| |
