| 1 | g.215673953_215675415del | CA1139656543 | USH2A | c.12497_13811+148del
| ClinVar |
| 1 | g.215674445C>A | CA344845109 | USH2A | c.13466G>T (p.Gly4489Val)
| |
| 1 | g.215674445C= | CA1144233401 | USH2A | c.13466G= (p.Gly4489=)
| |
| 1 | g.215674445C>G | CA344845110 | USH2A | c.13466G>C (p.Gly4489Ala)
| |
| 1 | g.215674445C>T | CA270141 | USH2A | c.13466G>A (p.Gly4489Asp)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215674446dup | CA2586968123 | USH2A | c.13466dup (p.Glu4491GlyfsTer6)
| |
| 1 | g.215674446C>A | CA344845114 | USH2A | c.13465G>T (p.Gly4489Cys)
| |
| 1 | g.215674446C= | CA1220373557 | USH2A | c.13465G= (p.Gly4489=)
| |
| 1 | g.215674446C>G | CA344845116 | USH2A | c.13465G>C (p.Gly4489Arg)
| gnomAD v4 |
| 1 | g.215674446C>T | CA344845118 | USH2A | c.13465G>A (p.Gly4489Ser)
| ClinVar dbSNP |
| 1 | g.215674446_215674447insAC | CA1139656545 | USH2A | c.13465_13466insTG (p.Gly4489ValfsTer22)
| ClinVar dbSNP |
| 1 | g.215674447T>A | CA37412409 | USH2A | c.13464A>T (p.Thr4488=)
| dbSNP gnomAD v4 |
| 1 | g.215674447T>C | CA1393285 | USH2A | c.13464A>G (p.Thr4488=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215674447T>G | CA423427417 | USH2A | c.13464A>C (p.Thr4488=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215674447T= | CA1149111204 | USH2A | c.13464A= (p.Thr4488=)
| |
| 1 | g.215674448G>A | CA344845121 | USH2A | c.13463C>T (p.Thr4488Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215674448G>C | CA344845119 | USH2A | c.13463C>G (p.Thr4488Arg)
| |
| 1 | g.215674448G= | CA1220373558 | USH2A | c.13463C= (p.Thr4488=)
| |
| 1 | g.215674448G>T | CA344845120 | USH2A | c.13463C>A (p.Thr4488Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215674449T>A | CA344845123 | USH2A | c.13462A>T (p.Thr4488Ser)
| |
| 1 | g.215674449T>C | CA344845125 | USH2A | c.13462A>G (p.Thr4488Ala)
| dbSNP |
| 1 | g.215674449T>G | CA344845126 | USH2A | c.13462A>C (p.Thr4488Pro)
| |
| 1 | g.215674449T= | CA1220373559 | USH2A | c.13462A= (p.Thr4488=)
| |
| 1 | g.215674450A>C | CA344845128 | USH2A | c.13461T>G (p.Tyr4487Ter)
| |
| 1 | g.215674450A>G | CA423427424 | USH2A | c.13461T>C (p.Tyr4487=)
| |
| 1 | g.215674450A>T | CA344845130 | USH2A | c.13461T>A (p.Tyr4487Ter)
| |
| 1 | g.215674451T>A | CA344845132 | USH2A | c.13460A>T (p.Tyr4487Phe)
| |
| 1 | g.215674451T>C | CA1393286 | USH2A | c.13460A>G (p.Tyr4487Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215674451T>G | CA344845135 | USH2A | c.13460A>C (p.Tyr4487Ser)
| |
| 1 | g.215674451T= | CA1220373560 | USH2A | c.13460A= (p.Tyr4487=)
| |
| 1 | g.215674452A>C | CA344845137 | USH2A | c.13459T>G (p.Tyr4487Asp)
| |
| 1 | g.215674452A>G | CA344845138 | USH2A | c.13459T>C (p.Tyr4487His)
| |
| 1 | g.215674452A>T | CA344845139 | USH2A | c.13459T>A (p.Tyr4487Asn)
| |
| 1 | g.215674453T>A | CA423427429 | USH2A | c.13458A>T (p.Val4486=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215674453T>C | CA423427430 | USH2A | c.13458A>G (p.Val4486=)
| dbSNP |
| 1 | g.215674453T>G | CA423427431 | USH2A | c.13458A>C (p.Val4486=)
| |
| 1 | g.215674453T= | CA1220373561 | USH2A | c.13458A= (p.Val4486=)
| |
| 1 | g.215674454A>C | CA344845141 | USH2A | c.13457T>G (p.Val4486Gly)
| |
| 1 | g.215674454A>G | CA344845142 | USH2A | c.13457T>C (p.Val4486Ala)
| |
| 1 | g.215674454A>T | CA344845140 | USH2A | c.13457T>A (p.Val4486Glu)
| |
| 1 | g.215674455C>A | CA344845143 | USH2A | c.13456G>T (p.Val4486Leu)
| |
| 1 | g.215674455C= | CA1220373562 | USH2A | c.13456G= (p.Val4486=)
| |
| 1 | g.215674455C>G | CA344845144 | USH2A | c.13456G>C (p.Val4486Leu)
| |
| 1 | g.215674455C>T | CA344845145 | USH2A | c.13456G>A (p.Val4486Ile)
| dbSNP |
| 1 | g.215674456A>C | CA344845147 | USH2A | c.13455T>G (p.Ile4485Met)
| |
| 1 | g.215674456A>G | CA423427433 | USH2A | c.13455T>C (p.Ile4485=)
| |
| 1 | g.215674456A>T | CA423427434 | USH2A | c.13455T>A (p.Ile4485=)
| gnomAD v4 |
| 1 | g.215674457A>C | CA344845153 | USH2A | c.13454T>G (p.Ile4485Ser)
| |
| 1 | g.215674457A>G | CA344845151 | USH2A | c.13454T>C (p.Ile4485Thr)
| |
| 1 | g.215674457A>T | CA344845150 | USH2A | c.13454T>A (p.Ile4485Asn)
| |
| 1 | g.215674458T>A | CA344845158 | USH2A | c.13453A>T (p.Ile4485Phe)
| |
| 1 | g.215674458T>C | CA344845160 | USH2A | c.13453A>G (p.Ile4485Val)
| gnomAD v4 |
| 1 | g.215674458T>G | CA344845161 | USH2A | c.13453A>C (p.Ile4485Leu)
| |
| 1 | g.215674459G>A | CA423427437 | USH2A | c.13452C>T (p.Thr4484=)
| gnomAD v4 |
| 1 | g.215674459G>C | CA423427440 | USH2A | c.13452C>G (p.Thr4484=)
| |
| 1 | g.215674459G>T | CA423427438 | USH2A | c.13452C>A (p.Thr4484=)
| |
| 1 | g.215674460G>A | CA344845164 | USH2A | c.13451C>T (p.Thr4484Ile)
| gnomAD v4 |
| 1 | g.215674460G>C | CA344845166 | USH2A | c.13451C>G (p.Thr4484Ser)
| |
| 1 | g.215674460G>T | CA344845167 | USH2A | c.13451C>A (p.Thr4484Asn)
| |
| 1 | g.215674461T>A | CA344845169 | USH2A | c.13450A>T (p.Thr4484Ser)
| |
| 1 | g.215674461T>C | CA37412417 | USH2A | c.13450A>G (p.Thr4484Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215674461T>G | CA344845170 | USH2A | c.13450A>C (p.Thr4484Pro)
| |
| 1 | g.215674461T= | CA1220373563 | USH2A | c.13450A= (p.Thr4484=)
| |
| 1 | g.215674462T>A | CA423427443 | USH2A | c.13449A>T (p.Gly4483=)
| |
| 1 | g.215674462T>C | CA423427444 | USH2A | c.13449A>G (p.Gly4483=)
| |
| 1 | g.215674462T>G | CA423427445 | USH2A | c.13449A>C (p.Gly4483=)
| |
| 1 | g.215674463C>A | CA344845177 | USH2A | c.13448G>T (p.Gly4483Val)
| |
| 1 | g.215674463C= | CA1220373564 | USH2A | c.13448G= (p.Gly4483=)
| |
| 1 | g.215674463C>G | CA344845180 | USH2A | c.13448G>C (p.Gly4483Ala)
| |
| 1 | g.215674463C>T | CA37412426 | USH2A | c.13448G>A (p.Gly4483Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215674464C>A | CA344845181 | USH2A | c.13447G>T (p.Gly4483Ter)
| ClinVar |
| 1 | g.215674464C= | CA1220373565 | USH2A | c.13447G= (p.Gly4483=)
| |
| 1 | g.215674464C>G | CA1393287 | USH2A | c.13447G>C (p.Gly4483Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215674464C>T | CA344845183 | USH2A | c.13447G>A (p.Gly4483Arg)
| gnomAD v4 |
| 1 | g.215674465A= | CA1143428784 | USH2A | c.13446T= (p.Asp4482=)
| |
| 1 | g.215674465A>C | CA344845186 | USH2A | c.13446T>G (p.Asp4482Glu)
| |
| 1 | g.215674465A>G | CA1393288 | USH2A | c.13446T>C (p.Asp4482=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215674465A>T | CA344845189 | USH2A | c.13446T>A (p.Asp4482Glu)
| |
| 1 | g.215674466T>A | CA344845191 | USH2A | c.13445A>T (p.Asp4482Val)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215674466T>C | CA344845194 | USH2A | c.13445A>G (p.Asp4482Gly)
| |
| 1 | g.215674466T>G | CA344845196 | USH2A | c.13445A>C (p.Asp4482Ala)
| |
| 1 | g.215674467C>A | CA344845198 | USH2A | c.13444G>T (p.Asp4482Tyr)
| |
| 1 | g.215674467C= | CA1220373566 | USH2A | c.13444G= (p.Asp4482=)
| |
| 1 | g.215674467C>G | CA344845200 | USH2A | c.13444G>C (p.Asp4482His)
| |
| 1 | g.215674467C>T | CA344845202 | USH2A | c.13444G>A (p.Asp4482Asn)
| ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.215674468C>A | CA344845204 | USH2A | c.13443G>T (p.Arg4481Ser)
| |
| 1 | g.215674468C>G | CA344845206 | USH2A | c.13443G>C (p.Arg4481Ser)
| |
| 1 | g.215674468C>T | CA423427450 | USH2A | c.13443G>A (p.Arg4481=)
| ClinVar |
| 1 | g.215674469C>A | CA344845211 | USH2A | c.13442G>T (p.Arg4481Met)
| |
| 1 | g.215674469C= | CA1220373567 | USH2A | c.13442G= (p.Arg4481=)
| |
| 1 | g.215674469C>G | CA344845213 | USH2A | c.13442G>C (p.Arg4481Thr)
| |
| 1 | g.215674469C>T | CA344845215 | USH2A | c.13442G>A (p.Arg4481Lys)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215674470T>A | CA344845217 | USH2A | c.13441A>T (p.Arg4481Trp)
| |
| 1 | g.215674470T>C | CA10581635 | USH2A | c.13441A>G (p.Arg4481Gly)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215674470T>G | CA423427454 | USH2A | c.13441A>C (p.Arg4481=)
| |
| 1 | g.215674470T= | CA1220373568 | USH2A | c.13441A= (p.Arg4481=)
| |
| 1 | g.215674471C>A | CA344845222 | USH2A | c.13440G>T (p.Arg4480Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215674471C= | CA1141189256 | USH2A | c.13440G= (p.Arg4480=)
| |
| 1 | g.215674471C>G | CA344845224 | USH2A | c.13440G>C (p.Arg4480Ser)
| |
| 1 | g.215674471C>T | CA143320 | USH2A | c.13440G>A (p.Arg4480=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215674472C>A | CA344845233 | USH2A | c.13439G>T (p.Arg4480Met)
| dbSNP |
| 1 | g.215674472C>G | CA344845235 | USH2A | c.13439G>C (p.Arg4480Thr)
| |
| 1 | g.215674472C>T | CA344845236 | USH2A | c.13439G>A (p.Arg4480Lys)
| gnomAD v4 |
| 1 | g.215674473T>A | CA344845238 | USH2A | c.13438A>T (p.Arg4480Trp)
| gnomAD v4 |
| 1 | g.215674473T>C | CA344845239 | USH2A | c.13438A>G (p.Arg4480Gly)
| |
| 1 | g.215674473T>G | CA423427460 | USH2A | c.13438A>C (p.Arg4480=)
| |
| 1 | g.215674474A= | CA1220373569 | USH2A | c.13437T= (p.Leu4479=)
| |
| 1 | g.215674474A>C | CA423427461 | USH2A | c.13437T>G (p.Leu4479=)
| |
| 1 | g.215674474A>G | CA1393289 | USH2A | c.13437T>C (p.Leu4479=)
| ClinVar dbSNP ExAC gnomAD v2 |
| 1 | g.215674474A>T | CA423427462 | USH2A | c.13437T>A (p.Leu4479=)
| |
| 1 | g.215674475A= | CA1220373570 | USH2A | c.13436T= (p.Leu4479=)
| |
| 1 | g.215674475A>C | CA344845241 | USH2A | c.13436T>G (p.Leu4479Arg)
| ClinVar dbSNP gnomAD v2 |
| 1 | g.215674475A>G | CA344845242 | USH2A | c.13436T>C (p.Leu4479Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215674475A>T | CA344845243 | USH2A | c.13436T>A (p.Leu4479His)
| |
| 1 | g.215674476G>A | CA344845246 | USH2A | c.13435C>T (p.Leu4479Phe)
| gnomAD v4 |
| 1 | g.215674476G>C | CA344845248 | USH2A | c.13435C>G (p.Leu4479Val)
| |
| 1 | g.215674476G>T | CA344845247 | USH2A | c.13435C>A (p.Leu4479Ile)
| |
| 1 | g.215674477T>A | CA344845249 | USH2A | c.13434A>T (p.Glu4478Asp)
| |
| 1 | g.215674477T>C | CA423427466 | USH2A | c.13434A>G (p.Glu4478=)
| |
| 1 | g.215674477T>G | CA344845250 | USH2A | c.13434A>C (p.Glu4478Asp)
| |
| 1 | g.215674478T>A | CA344845253 | USH2A | c.13433A>T (p.Glu4478Val)
| |
| 1 | g.215674478T>C | CA344845255 | USH2A | c.13433A>G (p.Glu4478Gly)
| |
| 1 | g.215674478T>G | CA344845256 | USH2A | c.13433A>C (p.Glu4478Ala)
| |
| 1 | g.215674479C>A | CA344845257 | USH2A | c.13432G>T (p.Glu4478Ter)
| |
| 1 | g.215674479C= | CA1220373571 | USH2A | c.13432G= (p.Glu4478=)
| |
| 1 | g.215674479C>G | CA1393290 | USH2A | c.13432G>C (p.Glu4478Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215674479C>T | CA344845259 | USH2A | c.13432G>A (p.Glu4478Lys)
| |
| 1 | g.215674480A= | CA1220373572 | USH2A | c.13431T= (p.Tyr4477=)
| |
| 1 | g.215674480A>C | CA344845260 | USH2A | c.13431T>G (p.Tyr4477Ter)
| |
| 1 | g.215674480A>G | CA423427469 | USH2A | c.13431T>C (p.Tyr4477=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215674480A>T | CA344845261 | USH2A | c.13431T>A (p.Tyr4477Ter)
| |
| 1 | g.215674481T>A | CA344845263 | USH2A | c.13430A>T (p.Tyr4477Phe)
| ClinVar gnomAD v4 |
| 1 | g.215674481T>C | CA37412460 | USH2A | c.13430A>G (p.Tyr4477Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215674481T>G | CA344845262 | USH2A | c.13430A>C (p.Tyr4477Ser)
| |
| 1 | g.215674481T= | CA1220373573 | USH2A | c.13430A= (p.Tyr4477=)
| |
| 1 | g.215674482A>C | CA344845271 | USH2A | c.13429T>G (p.Tyr4477Asp)
| |
| 1 | g.215674482A>G | CA344845273 | USH2A | c.13429T>C (p.Tyr4477His)
| |
| 1 | g.215674482A>T | CA344845275 | USH2A | c.13429T>A (p.Tyr4477Asn)
| |
| 1 | g.215674482_215674487dup | CA1393291 | USH2A | c.13424_13429dup (p.Tyr4477Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215674483A>C | CA344845277 | USH2A | c.13428T>G (p.Ser4476Arg)
| |
| 1 | g.215674483A>G | CA423427471 | USH2A | c.13428T>C (p.Ser4476=)
| |
| 1 | g.215674483A>T | CA344845278 | USH2A | c.13428T>A (p.Ser4476Arg)
| |
| 1 | g.215674484C>A | CA344845279 | USH2A | c.13427G>T (p.Ser4476Ile)
| |
| 1 | g.215674484C= | CA1220373574 | USH2A | c.13427G= (p.Ser4476=)
| |
| 1 | g.215674484C>G | CA344845280 | USH2A | c.13427G>C (p.Ser4476Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215674484C>T | CA344845281 | USH2A | c.13427G>A (p.Ser4476Asn)
| gnomAD v4 |
| 1 | g.215674485T>A | CA344845283 | USH2A | c.13426A>T (p.Ser4476Cys)
| |
| 1 | g.215674485T>C | CA344845285 | USH2A | c.13426A>G (p.Ser4476Gly)
| |
| 1 | g.215674485T>G | CA344845286 | USH2A | c.13426A>C (p.Ser4476Arg)
| |
| 1 | g.215674486T>A | CA344845289 | USH2A | c.13425A>T (p.Arg4475Ser)
| |
| 1 | g.215674486T>C | CA423427474 | USH2A | c.13425A>G (p.Arg4475=)
| |
| 1 | g.215674486T>G | CA344845287 | USH2A | c.13425A>C (p.Arg4475Ser)
| |
| 1 | g.215674487C>A | CA1393292 | USH2A | c.13424G>T (p.Arg4475Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215674487C= | CA1220373575 | USH2A | c.13424G= (p.Arg4475=)
| |
| 1 | g.215674487C>G | CA344845293 | USH2A | c.13424G>C (p.Arg4475Thr)
| dbSNP |
| 1 | g.215674487C>T | CA344845292 | USH2A | c.13424G>A (p.Arg4475Lys)
| gnomAD v4 |
| 1 | g.215674488T>A | CA344845294 | USH2A | c.13423A>T (p.Arg4475Ter)
| |
| 1 | g.215674488T>C | CA1393293 | USH2A | c.13423A>G (p.Arg4475Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215674488T>G | CA37412473 | USH2A | c.13423A>C (p.Arg4475=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215674488T= | CA1220373576 | USH2A | c.13423A= (p.Arg4475=)
| |
| 1 | g.215674489G>A | CA423427477 | USH2A | c.13422C>T (p.Ile4474=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215674489G>C | CA344845296 | USH2A | c.13422C>G (p.Ile4474Met)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215674489G= | CA1220373577 | USH2A | c.13422C= (p.Ile4474=)
| |
| 1 | g.215674489G>T | CA423427478 | USH2A | c.13422C>A (p.Ile4474=)
| |
| 1 | g.215674490A>C | CA344845298 | USH2A | c.13421T>G (p.Ile4474Ser)
| |
| 1 | g.215674490A>G | CA344845302 | USH2A | c.13421T>C (p.Ile4474Thr)
| gnomAD v4 |
| 1 | g.215674490A>T | CA344845304 | USH2A | c.13421T>A (p.Ile4474Asn)
| gnomAD v4 |
| 1 | g.215674491T>A | CA344845305 | USH2A | c.13420A>T (p.Ile4474Phe)
| |
| 1 | g.215674491T>C | CA344845307 | USH2A | c.13420A>G (p.Ile4474Val)
| |
| 1 | g.215674491T>G | CA344845309 | USH2A | c.13420A>C (p.Ile4474Leu)
| |
| 1 | g.215674492_215674493del | CA2573131559 | USH2A | c.13419_13420del (p.Gln4473HisfsTer5)
| ClinVar dbSNP |
| 1 | g.215674492C>A | CA344845310 | USH2A | c.13419G>T (p.Gln4473His)
| |
| 1 | g.215674492C>G | CA344845312 | USH2A | c.13419G>C (p.Gln4473His)
| |
| 1 | g.215674492C>T | CA423427482 | USH2A | c.13419G>A (p.Gln4473=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215674493T>A | CA344845319 | USH2A | c.13418A>T (p.Gln4473Leu)
| |
| 1 | g.215674493T>C | CA344845318 | USH2A | c.13418A>G (p.Gln4473Arg)
| |
| 1 | g.215674493T>G | CA344845316 | USH2A | c.13418A>C (p.Gln4473Pro)
| |
| 1 | g.215674494G>A | CA344845321 | USH2A | c.13417C>T (p.Gln4473Ter)
| ClinVar dbSNP |
| 1 | g.215674494G>C | CA344845323 | USH2A | c.13417C>G (p.Gln4473Glu)
| |
| 1 | g.215674494G>T | CA344845327 | USH2A | c.13417C>A (p.Gln4473Lys)
| |
| 1 | g.215674495G>A | CA423427489 | USH2A | c.13416C>T (p.Gly4472=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215674495G>C | CA423427490 | USH2A | c.13416C>G (p.Gly4472=)
| |
| 1 | g.215674495G= | CA1220373578 | USH2A | c.13416C= (p.Gly4472=)
| |
| 1 | g.215674495G>T | CA423427486 | USH2A | c.13416C>A (p.Gly4472=)
| |
| 1 | g.215674496C>A | CA344845330 | USH2A | c.13415G>T (p.Gly4472Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215674496C= | CA1220373579 | USH2A | c.13415G= (p.Gly4472=)
| |
| 1 | g.215674496C>G | CA344845331 | USH2A | c.13415G>C (p.Gly4472Ala)
| |
| 1 | g.215674496C>T | CA344845332 | USH2A | c.13415G>A (p.Gly4472Asp)
| |
| 1 | g.215674497C>A | CA344845333 | USH2A | c.13414G>T (p.Gly4472Cys)
| |
| 1 | g.215674497C= | CA1220373580 | USH2A | c.13414G= (p.Gly4472=)
| |
| 1 | g.215674497C>G | CA344845334 | USH2A | c.13414G>C (p.Gly4472Arg)
| |
| 1 | g.215674497C>T | CA344845335 | USH2A | c.13414G>A (p.Gly4472Ser)
| ClinVar dbSNP |
| 1 | g.215674498A>C | CA344845336 | USH2A | c.13413T>G (p.Asn4471Lys)
| |
| 1 | g.215674498A>G | CA423427656 | USH2A | c.13413T>C (p.Asn4471=)
| gnomAD v4 |
| 1 | g.215674498A>T | CA344845337 | USH2A | c.13413T>A (p.Asn4471Lys)
| gnomAD v4 |
| 1 | g.215674499T>A | CA344845342 | USH2A | c.13412A>T (p.Asn4471Ile)
| |
| 1 | g.215674499T>C | CA344845340 | USH2A | c.13412A>G (p.Asn4471Ser)
| gnomAD v4 |
| 1 | g.215674499T>G | CA344845338 | USH2A | c.13412A>C (p.Asn4471Thr)
| |
| 1 | g.215674500T>A | CA344845344 | USH2A | c.13411A>T (p.Asn4471Tyr)
| |
| 1 | g.215674500T>C | CA344845346 | USH2A | c.13411A>G (p.Asn4471Asp)
| |
| 1 | g.215674500T>G | CA344845347 | USH2A | c.13411A>C (p.Asn4471His)
| |
| 1 | g.215674501T>A | CA423427665 | USH2A | c.13410A>T (p.Pro4470=)
| |
| 1 | g.215674501T>C | CA423427666 | USH2A | c.13410A>G (p.Pro4470=)
| |
| 1 | g.215674501T>G | CA423427664 | USH2A | c.13410A>C (p.Pro4470=)
| |
| 1 | g.215674502G>A | CA344845349 | USH2A | c.13409C>T (p.Pro4470Leu)
| gnomAD v4 |
| 1 | g.215674502G>C | CA344845351 | USH2A | c.13409C>G (p.Pro4470Arg)
| |
| 1 | g.215674502G>T | CA344845358 | USH2A | c.13409C>A (p.Pro4470Gln)
| |
| 1 | g.215674503G>A | CA344845365 | USH2A | c.13408C>T (p.Pro4470Ser)
| |
| 1 | g.215674503G>C | CA1393294 | USH2A | c.13408C>G (p.Pro4470Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215674503G= | CA1220373581 | USH2A | c.13408C= (p.Pro4470=)
| |
| 1 | g.215674503G>T | CA344845364 | USH2A | c.13408C>A (p.Pro4470Thr)
| |
| 1 | g.215674504G>A | CA423427676 | USH2A | c.13407C>T (p.Asn4469=)
| |
| 1 | g.215674504G>C | CA344845367 | USH2A | c.13407C>G (p.Asn4469Lys)
| |
| 1 | g.215674504G= | CA1220373582 | USH2A | c.13407C= (p.Asn4469=)
| |
| 1 | g.215674504G>T | CA344845369 | USH2A | c.13407C>A (p.Asn4469Lys)
| ClinVar dbSNP |
| 1 | g.215674505T>A | CA344845370 | USH2A | c.13406A>T (p.Asn4469Ile)
| |
| 1 | g.215674505T>C | CA37412478 | USH2A | c.13406A>G (p.Asn4469Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215674505T>G | CA344845373 | USH2A | c.13406A>C (p.Asn4469Thr)
| gnomAD v4 |
| 1 | g.215674505T= | CA1220373583 | USH2A | c.13406A= (p.Asn4469=)
| |
| 1 | g.215674506T>A | CA344845375 | USH2A | c.13405A>T (p.Asn4469Tyr)
| |
| 1 | g.215674506T>C | CA344845377 | USH2A | c.13405A>G (p.Asn4469Asp)
| |
| 1 | g.215674506T>G | CA344845376 | USH2A | c.13405A>C (p.Asn4469His)
| |
| 1 | g.215674507T>A | CA344845378 | USH2A | c.13404A>T (p.Arg4468Ser)
| |
| 1 | g.215674507T>C | CA143318 | USH2A | c.13404A>G (p.Arg4468=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215674507T>G | CA344845379 | USH2A | c.13404A>C (p.Arg4468Ser)
| |
| 1 | g.215674507T= | CA1142150920 | USH2A | c.13404A= (p.Arg4468=)
| |
| 1 | g.215674508C>A | CA344845382 | USH2A | c.13403G>T (p.Arg4468Ile)
| |
| 1 | g.215674508C>G | CA344845383 | USH2A | c.13403G>C (p.Arg4468Thr)
| |
| 1 | g.215674508C>T | CA344845385 | USH2A | c.13403G>A (p.Arg4468Lys)
| |
| 1 | g.215674509T>A | CA344845386 | USH2A | c.13402A>T (p.Arg4468Ter)
| |
| 1 | g.215674509T>C | CA344845387 | USH2A | c.13402A>G (p.Arg4468Gly)
| COSMIC COSMIC |
| 1 | g.215674509T>G | CA423427696 | USH2A | c.13402A>C (p.Arg4468=)
| |
| 1 | g.215674510T>A | CA423427697 | USH2A | c.13401A>T (p.Pro4467=)
| |
| 1 | g.215674510T>C | CA423427699 | USH2A | c.13401A>G (p.Pro4467=)
| |
| 1 | g.215674510T>G | CA423427702 | USH2A | c.13401A>C (p.Pro4467=)
| |
| 1 | g.215674511G>A | CA344845388 | USH2A | c.13400C>T (p.Pro4467Leu)
| COSMIC COSMIC |
| 1 | g.215674511G>C | CA344845390 | USH2A | c.13400C>G (p.Pro4467Arg)
| |
| 1 | g.215674511G= | CA1220373584 | USH2A | c.13400C= (p.Pro4467=)
| |
| 1 | g.215674511G>T | CA344845391 | USH2A | c.13400C>A (p.Pro4467Gln)
| dbSNP gnomAD v4 COSMIC |
| 1 | g.215674512G>A | CA344845393 | USH2A | c.13399C>T (p.Pro4467Ser)
| |
| 1 | g.215674512G>C | CA344845396 | USH2A | c.13399C>G (p.Pro4467Ala)
| |
| 1 | g.215674512G>T | CA344845392 | USH2A | c.13399C>A (p.Pro4467Thr)
| |
| 1 | g.215674513A>C | CA423427715 | USH2A | c.13398T>G (p.Pro4466=)
| |
| 1 | g.215674513A>G | CA423427714 | USH2A | c.13398T>C (p.Pro4466=)
| |
| 1 | g.215674513A>T | CA423427712 | USH2A | c.13398T>A (p.Pro4466=)
| |
| 1 | g.215674514G>A | CA344845401 | USH2A | c.13397C>T (p.Pro4466Leu)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215674514G>C | CA344845398 | USH2A | c.13397C>G (p.Pro4466Arg)
| |
| 1 | g.215674514G>T | CA344845399 | USH2A | c.13397C>A (p.Pro4466His)
| |
| 1 | g.215674515G>A | CA143316 | USH2A | c.13396C>T (p.Pro4466Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215674515G>C | CA344845404 | USH2A | c.13396C>G (p.Pro4466Ala)
| |
| 1 | g.215674515G= | CA1141615260 | USH2A | c.13396C= (p.Pro4466=)
| |
| 1 | g.215674515G>T | CA344845406 | USH2A | c.13396C>A (p.Pro4466Thr)
| |
| 1 | g.215674516T>A | CA344845408 | USH2A | c.13395A>T (p.Lys4465Asn)
| |
| 1 | g.215674516T>C | CA423427726 | USH2A | c.13395A>G (p.Lys4465=)
| |
| 1 | g.215674516T>G | CA344845410 | USH2A | c.13395A>C (p.Lys4465Asn)
| |
| 1 | g.215674518dup | CA916402512 | USH2A | c.13395dup (p.Pro4466ThrfsTer13)
| dbSNP |
| 1 | g.215674517T>A | CA344845411 | USH2A | c.13394A>T (p.Lys4465Ile)
| |
| 1 | g.215674517T>C | CA344845412 | USH2A | c.13394A>G (p.Lys4465Arg)
| |
| 1 | g.215674517T>G | CA344845413 | USH2A | c.13394A>C (p.Lys4465Thr)
| |
| 1 | g.215674518T>A | CA344845414 | USH2A | c.13393A>T (p.Lys4465Ter)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215674518T>C | CA344845415 | USH2A | c.13393A>G (p.Lys4465Glu)
| |
| 1 | g.215674518T>G | CA344845416 | USH2A | c.13393A>C (p.Lys4465Gln)
| gnomAD v4 |
| 1 | g.215674519C>A | CA344845419 | USH2A | c.13392G>T (p.Trp4464Cys)
| ClinVar |
| 1 | g.215674519C= | CA1220373585 | USH2A | c.13392G= (p.Trp4464=)
| |
| 1 | g.215674519C>G | CA344845417 | USH2A | c.13392G>C (p.Trp4464Cys)
| |
| 1 | g.215674519C>T | CA344845418 | USH2A | c.13392G>A (p.Trp4464Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215674520C>A | CA344845422 | USH2A | c.13391G>T (p.Trp4464Leu)
| |
| 1 | g.215674520C>G | CA344845423 | USH2A | c.13391G>C (p.Trp4464Ser)
| |
| 1 | g.215674520C>T | CA344845425 | USH2A | c.13391G>A (p.Trp4464Ter)
| ClinVar |
| 1 | g.215674521A= | CA1220373586 | USH2A | c.13390T= (p.Trp4464=)
| |
| 1 | g.215674521A>C | CA344845426 | USH2A | c.13390T>G (p.Trp4464Gly)
| |
| 1 | g.215674521A>G | CA344845427 | USH2A | c.13390T>C (p.Trp4464Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215674521A>T | CA344845429 | USH2A | c.13390T>A (p.Trp4464Arg)
| COSMIC COSMIC |
| 1 | g.215674522G>A | CA1393295 | USH2A | c.13389C>T (p.Thr4463=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215674522G>C | CA423427742 | USH2A | c.13389C>G (p.Thr4463=)
| ClinVar |
| 1 | g.215674522G= | CA1220373587 | USH2A | c.13389C= (p.Thr4463=)
| |
| 1 | g.215674522G>T | CA423427744 | USH2A | c.13389C>A (p.Thr4463=)
| |
| 1 | g.215674523del | CA2586968125 | USH2A | c.13389del (p.Trp4464GlyfsTer?)
| |
| 1 | g.215674523G>A | CA344845431 | USH2A | c.13388C>T (p.Thr4463Ile)
| |
| 1 | g.215674523G>C | CA344845432 | USH2A | c.13388C>G (p.Thr4463Ser)
| |
| 1 | g.215674523G>T | CA344845434 | USH2A | c.13388C>A (p.Thr4463Asn)
| |
| 1 | g.215674524T>A | CA344845436 | USH2A | c.13387A>T (p.Thr4463Ser)
| |
| 1 | g.215674524T>C | CA1393296 | USH2A | c.13387A>G (p.Thr4463Ala)
| dbSNP ExAC gnomAD v2 |
| 1 | g.215674524T>G | CA344845442 | USH2A | c.13387A>C (p.Thr4463Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215674524T= | CA1220373588 | USH2A | c.13387A= (p.Thr4463=)
| |
| 1 | g.215674527_215674542del | CA2573131563 | USH2A | c.13372_13387del (p.Glu4458ProfsTer?)
| ClinVar dbSNP |
| 1 | g.215674525G>A | CA1393297 | USH2A | c.13386C>T (p.Ile4462=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215674525G>C | CA344845444 | USH2A | c.13386C>G (p.Ile4462Met)
| |
| 1 | g.215674525G= | CA1142942149 | USH2A | c.13386C= (p.Ile4462=)
| |
| 1 | g.215674525G>T | CA423427753 | USH2A | c.13386C>A (p.Ile4462=)
| |
| 1 | g.215674526A>C | CA344845448 | USH2A | c.13385T>G (p.Ile4462Ser)
| ClinVar |
| 1 | g.215674526A>G | CA344845450 | USH2A | c.13385T>C (p.Ile4462Thr)
| |
| 1 | g.215674526A>T | CA344845452 | USH2A | c.13385T>A (p.Ile4462Asn)
| |
| 1 | g.215674527T>A | CA344845455 | USH2A | c.13384A>T (p.Ile4462Phe)
| gnomAD v4 |
| 1 | g.215674527T>C | CA344845456 | USH2A | c.13384A>G (p.Ile4462Val)
| gnomAD v4 |
| 1 | g.215674527T>G | CA344845458 | USH2A | c.13384A>C (p.Ile4462Leu)
| |
| 1 | g.215674528T>A | CA344845461 | USH2A | c.13383A>T (p.Glu4461Asp)
| |
| 1 | g.215674528T>C | CA423427764 | USH2A | c.13383A>G (p.Glu4461=)
| |
| 1 | g.215674528T>G | CA344845462 | USH2A | c.13383A>C (p.Glu4461Asp)
| |
| 1 | g.215674529T>A | CA344845463 | USH2A | c.13382A>T (p.Glu4461Val)
| |
| 1 | g.215674529T>C | CA344845466 | USH2A | c.13382A>G (p.Glu4461Gly)
| |
| 1 | g.215674529T>G | CA344845464 | USH2A | c.13382A>C (p.Glu4461Ala)
| |
| 1 | g.215674530C>A | CA37412494 | USH2A | c.13381G>T (p.Glu4461Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215674530C= | CA1146261218 | USH2A | c.13381G= (p.Glu4461=)
| |
| 1 | g.215674530C>G | CA344845469 | USH2A | c.13381G>C (p.Glu4461Gln)
| |
| 1 | g.215674530C>T | CA344845471 | USH2A | c.13381G>A (p.Glu4461Lys)
| |
| 1 | g.215674531T>A | CA423427776 | USH2A | c.13380A>T (p.Ile4460=)
| |
| 1 | g.215674531T>C | CA344845475 | USH2A | c.13380A>G (p.Ile4460Met)
| dbSNP gnomAD v2 |
| 1 | g.215674531T>G | CA423427778 | USH2A | c.13380A>C (p.Ile4460=)
| |
| 1 | g.215674531T= | CA1220373589 | USH2A | c.13380A= (p.Ile4460=)
| |
| 1 | g.215674532A>C | CA344845477 | USH2A | c.13379T>G (p.Ile4460Arg)
| |
| 1 | g.215674532A>G | CA344845481 | USH2A | c.13379T>C (p.Ile4460Thr)
| gnomAD v4 |
| 1 | g.215674532A>T | CA344845479 | USH2A | c.13379T>A (p.Ile4460Lys)
| |
| 1 | g.215674533T>A | CA344845483 | USH2A | c.13378A>T (p.Ile4460Leu)
| |
| 1 | g.215674533T>C | CA344845486 | USH2A | c.13378A>G (p.Ile4460Val)
| gnomAD v4 |
| 1 | g.215674533T>G | CA344845488 | USH2A | c.13378A>C (p.Ile4460Leu)
| |
| 1 | g.215674534T>A | CA423427783 | USH2A | c.13377A>T (p.Ser4459=)
| |
| 1 | g.215674534T>C | CA423427786 | USH2A | c.13377A>G (p.Ser4459=)
| |
| 1 | g.215674534T>G | CA423427789 | USH2A | c.13377A>C (p.Ser4459=)
| |
| 1 | g.215674535G>A | CA344845494 | USH2A | c.13376C>T (p.Ser4459Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215674535G>C | CA344845496 | USH2A | c.13376C>G (p.Ser4459Ter)
| |
| 1 | g.215674535G= | CA1220373590 | USH2A | c.13376C= (p.Ser4459=)
| |
| 1 | g.215674535G>T | CA344845499 | USH2A | c.13376C>A (p.Ser4459Ter)
| |
| 1 | g.215674536A= | CA1220373591 | USH2A | c.13375T= (p.Ser4459=)
| |
| 1 | g.215674536A>C | CA344845501 | USH2A | c.13375T>G (p.Ser4459Ala)
| |
| 1 | g.215674536A>G | CA1393298 | USH2A | c.13375T>C (p.Ser4459Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215674536A>T | CA344845503 | USH2A | c.13375T>A (p.Ser4459Thr)
| |
| 1 | g.215674536_215674537delinsAT | CA1220373592 | USH2A | c.13374_13375delinsAT (p.Glu4458=)
| |
| 1 | g.215674537T>A | CA344845506 | USH2A | c.13374A>T (p.Glu4458Asp)
| |
| 1 | g.215674537T>C | CA423427792 | USH2A | c.13374A>G (p.Glu4458=)
| |
| 1 | g.215674537T>G | CA344845508 | USH2A | c.13374A>C (p.Glu4458Asp)
| |
| 1 | g.215674537_215674538delinsTT | CA1148224960 | USH2A | c.13373_13374delinsAA (p.Glu4458=)
| |
| 1 | g.215674538del | CA273285 | USH2A | c.13374del (p.Glu4458AspfsTer3)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215674538T>A | CA344845512 | USH2A | c.13373A>T (p.Glu4458Val)
| |
| 1 | g.215674538T>C | CA344845514 | USH2A | c.13373A>G (p.Glu4458Gly)
| |
| 1 | g.215674538T>G | CA344845513 | USH2A | c.13373A>C (p.Glu4458Ala)
| |
| 1 | g.215674539C>A | CA344845516 | USH2A | c.13372G>T (p.Glu4458Ter)
| |
| 1 | g.215674539C>G | CA344845519 | USH2A | c.13372G>C (p.Glu4458Gln)
| |
| 1 | g.215674539C>T | CA344845517 | USH2A | c.13372G>A (p.Glu4458Lys)
| |
| 1 | g.215674540T>A | CA423427818 | USH2A | c.13371A>T (p.Ser4457=)
| |
| 1 | g.215674540T>C | CA423427821 | USH2A | c.13371A>G (p.Ser4457=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215674540T>G | CA423427824 | USH2A | c.13371A>C (p.Ser4457=)
| |
| 1 | g.215674540T= | CA1220373593 | USH2A | c.13371A= (p.Ser4457=)
| |
| 1 | g.215674541G>A | CA344845520 | USH2A | c.13370C>T (p.Ser4457Leu)
| |
| 1 | g.215674541G>C | CA344845522 | USH2A | c.13370C>G (p.Ser4457Ter)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215674541G>T | CA344845524 | USH2A | c.13370C>A (p.Ser4457Ter)
| |
| 1 | g.215674542A>C | CA344845526 | USH2A | c.13369T>G (p.Ser4457Ala)
| |
| 1 | g.215674542A>G | CA344845528 | USH2A | c.13369T>C (p.Ser4457Pro)
| |
| 1 | g.215674542A>T | CA344845529 | USH2A | c.13369T>A (p.Ser4457Thr)
| |
| 1 | g.215674543G>A | CA423427838 | USH2A | c.13368C>T (p.Gly4456=)
| ClinVar |
| 1 | g.215674543G>C | CA423427839 | USH2A | c.13368C>G (p.Gly4456=)
| |
| 1 | g.215674543G>T | CA423427840 | USH2A | c.13368C>A (p.Gly4456=)
| |
| 1 | g.215674544C>A | CA344845531 | USH2A | c.13367G>T (p.Gly4456Val)
| gnomAD v4 |
| 1 | g.215674544C= | CA1220373594 | USH2A | c.13367G= (p.Gly4456=)
| |
| 1 | g.215674544C>G | CA344845533 | USH2A | c.13367G>C (p.Gly4456Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215674544C>T | CA344845534 | USH2A | c.13367G>A (p.Gly4456Asp)
| |
| 1 | g.215674545C>A | CA344845536 | USH2A | c.13366G>T (p.Gly4456Cys)
| COSMIC COSMIC |
| 1 | g.215674545C>G | CA344845538 | USH2A | c.13366G>C (p.Gly4456Arg)
| |
| 1 | g.215674545C>T | CA344845540 | USH2A | c.13366G>A (p.Gly4456Ser)
| COSMIC COSMIC |
| 1 | g.215674545_215674546delinsCT | CA1220373595 | USH2A | c.13365_13366delinsAG (p.Thr4455=)
| |
