| 1 | g.215867079G>A | CA344851305 | USH2A | c.8773C>T (p.Pro2925Ser)
| |
| 1 | g.215867079G>C | CA344851306 | USH2A | c.8773C>G (p.Pro2925Ala)
| |
| 1 | g.215867079G>T | CA344851308 | USH2A | c.8773C>A (p.Pro2925Thr)
| |
| 1 | g.215867080A>C | CA423313844 | USH2A | c.8772T>G (p.Leu2924=)
| |
| 1 | g.215867080A>G | CA423313845 | USH2A | c.8772T>C (p.Leu2924=)
| |
| 1 | g.215867080A>T | CA423313846 | USH2A | c.8772T>A (p.Leu2924=)
| |
| 1 | g.215867081A= | CA1220455678 | USH2A | c.8771T= (p.Leu2924=)
| |
| 1 | g.215867081A>C | CA344851310 | USH2A | c.8771T>G (p.Leu2924Arg)
| |
| 1 | g.215867081A>G | CA344851313 | USH2A | c.8771T>C (p.Leu2924Pro)
| |
| 1 | g.215867081A>T | CA1394513 | USH2A | c.8771T>A (p.Leu2924His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867082G>A | CA344851319 | USH2A | c.8770C>T (p.Leu2924Phe)
| |
| 1 | g.215867082G>C | CA344851321 | USH2A | c.8770C>G (p.Leu2924Val)
| |
| 1 | g.215867082G>T | CA344851324 | USH2A | c.8770C>A (p.Leu2924Ile)
| |
| 1 | g.215867083del | CA2586968205 | USH2A | c.8769del (p.Leu2924PhefsTer20)
| |
| 1 | g.215867083A>C | CA423313850 | USH2A | c.8769T>G (p.Gly2923=)
| |
| 1 | g.215867083A>G | CA423313852 | USH2A | c.8769T>C (p.Gly2923=)
| |
| 1 | g.215867083A>T | CA423313853 | USH2A | c.8769T>A (p.Gly2923=)
| |
| 1 | g.215867084C>A | CA344851327 | USH2A | c.8768G>T (p.Gly2923Val)
| gnomAD v4 |
| 1 | g.215867084C>G | CA344851329 | USH2A | c.8768G>C (p.Gly2923Ala)
| COSMIC COSMIC |
| 1 | g.215867084C>T | CA344851332 | USH2A | c.8768G>A (p.Gly2923Asp)
| |
| 1 | g.215867085C>A | CA37459415 | USH2A | c.8767G>T (p.Gly2923Cys)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215867085C= | CA1220455679 | USH2A | c.8767G= (p.Gly2923=)
| |
| 1 | g.215867085C>G | CA344851337 | USH2A | c.8767G>C (p.Gly2923Arg)
| |
| 1 | g.215867085C>T | CA344851336 | USH2A | c.8767G>A (p.Gly2923Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215867086A= | CA1220455680 | USH2A | c.8766T= (p.Ala2922=)
| |
| 1 | g.215867086A>C | CA423313856 | USH2A | c.8766T>G (p.Ala2922=)
| |
| 1 | g.215867086A>G | CA423313857 | USH2A | c.8766T>C (p.Ala2922=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215867086A>T | CA423313855 | USH2A | c.8766T>A (p.Ala2922=)
| |
| 1 | g.215867087G>A | CA344851340 | USH2A | c.8765C>T (p.Ala2922Val)
| |
| 1 | g.215867087G>C | CA344851342 | USH2A | c.8765C>G (p.Ala2922Gly)
| |
| 1 | g.215867087G>T | CA344851343 | USH2A | c.8765C>A (p.Ala2922Asp)
| |
| 1 | g.215867088C>A | CA344851345 | USH2A | c.8764G>T (p.Ala2922Ser)
| |
| 1 | g.215867088C>G | CA344851347 | USH2A | c.8764G>C (p.Ala2922Pro)
| gnomAD v4 |
| 1 | g.215867088C>T | CA344851349 | USH2A | c.8764G>A (p.Ala2922Thr)
| |
| 1 | g.215867089_215867092dup | CA2650504860 | USH2A | c.8761_8764dup (p.Ala2922ValfsTer17)
| gnomAD v4 |
| 1 | g.215867089T>A | CA344851352 | USH2A | c.8763A>T (p.Leu2921Phe)
| |
| 1 | g.215867089T>C | CA423313862 | USH2A | c.8763A>G (p.Leu2921=)
| |
| 1 | g.215867089T>G | CA344851354 | USH2A | c.8763A>C (p.Leu2921Phe)
| |
| 1 | g.215867090A>C | CA344851358 | USH2A | c.8762T>G (p.Leu2921Ter)
| |
| 1 | g.215867090A>G | CA344851360 | USH2A | c.8762T>C (p.Leu2921Ser)
| |
| 1 | g.215867090A>T | CA344851363 | USH2A | c.8762T>A (p.Leu2921Ter)
| |
| 1 | g.215867091A>C | CA344851366 | USH2A | c.8761T>G (p.Leu2921Val)
| |
| 1 | g.215867091A>G | CA423313865 | USH2A | c.8761T>C (p.Leu2921=)
| |
| 1 | g.215867091A>T | CA344851368 | USH2A | c.8761T>A (p.Leu2921Ile)
| |
| 1 | g.215867092C>A | CA1394515 | USH2A | c.8760G>T (p.Thr2920=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867092C= | CA1143423805 | USH2A | c.8760G= (p.Thr2920=)
| |
| 1 | g.215867092C>G | CA423313867 | USH2A | c.8760G>C (p.Thr2920=)
| |
| 1 | g.215867092C>T | CA1394514 | USH2A | c.8760G>A (p.Thr2920=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867092_215867095delinsCGTT | CA1220455681 | USH2A | c.8757_8760delinsAACG (p.Thr2919=)
| |
| 1 | g.215867093G>A | CA344851375 | USH2A | c.8759C>T (p.Thr2920Met)
| dbSNP gnomAD v4 COSMIC |
| 1 | g.215867093G>C | CA344851377 | USH2A | c.8759C>G (p.Thr2920Arg)
| |
| 1 | g.215867093G= | CA1220455682 | USH2A | c.8759C= (p.Thr2920=)
| |
| 1 | g.215867093G>T | CA344851379 | USH2A | c.8759C>A (p.Thr2920Lys)
| |
| 1 | g.215867095_215867097del | CA529002450 | USH2A | c.8757_8759del (p.Thr2920del)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215867094T>A | CA344851380 | USH2A | c.8758A>T (p.Thr2920Ser)
| |
| 1 | g.215867094T>C | CA1394516 | USH2A | c.8758A>G (p.Thr2920Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867094T>G | CA344851381 | USH2A | c.8758A>C (p.Thr2920Pro)
| |
| 1 | g.215867094T= | CA1220455683 | USH2A | c.8758A= (p.Thr2920=)
| |
| 1 | g.215867095T>A | CA423313873 | USH2A | c.8757A>T (p.Thr2919=)
| |
| 1 | g.215867095T>C | CA423313874 | USH2A | c.8757A>G (p.Thr2919=)
| gnomAD v4 |
| 1 | g.215867095T>G | CA423313875 | USH2A | c.8757A>C (p.Thr2919=)
| |
| 1 | g.215867096G>A | CA1394517 | USH2A | c.8756C>T (p.Thr2919Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867096G>C | CA344851382 | USH2A | c.8756C>G (p.Thr2919Arg)
| |
| 1 | g.215867096G= | CA1220455684 | USH2A | c.8756C= (p.Thr2919=)
| |
| 1 | g.215867096G>T | CA344851383 | USH2A | c.8756C>A (p.Thr2919Lys)
| COSMIC COSMIC |
| 1 | g.215867097T>A | CA344851384 | USH2A | c.8755A>T (p.Thr2919Ser)
| |
| 1 | g.215867097T>C | CA344851385 | USH2A | c.8755A>G (p.Thr2919Ala)
| |
| 1 | g.215867097T>G | CA344851386 | USH2A | c.8755A>C (p.Thr2919Pro)
| |
| 1 | g.215867098C>A | CA423313879 | USH2A | c.8754G>T (p.Val2918=)
| dbSNP |
| 1 | g.215867098C= | CA1220455685 | USH2A | c.8754G= (p.Val2918=)
| |
| 1 | g.215867098C>G | CA423313880 | USH2A | c.8754G>C (p.Val2918=)
| |
| 1 | g.215867098C>T | CA423313881 | USH2A | c.8754G>A (p.Val2918=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215867099A>C | CA344851388 | USH2A | c.8753T>G (p.Val2918Gly)
| |
| 1 | g.215867099A>G | CA344851389 | USH2A | c.8753T>C (p.Val2918Ala)
| |
| 1 | g.215867099A>T | CA344851387 | USH2A | c.8753T>A (p.Val2918Glu)
| |
| 1 | g.215867100C>A | CA1394518 | USH2A | c.8752G>T (p.Val2918Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867100C= | CA1220455686 | USH2A | c.8752G= (p.Val2918=)
| |
| 1 | g.215867100C>G | CA344851390 | USH2A | c.8752G>C (p.Val2918Leu)
| |
| 1 | g.215867100C>T | CA344851391 | USH2A | c.8752G>A (p.Val2918Met)
| |
| 1 | g.215867101A>C | CA423313886 | USH2A | c.8751T>G (p.Thr2917=)
| |
| 1 | g.215867101A>G | CA423313888 | USH2A | c.8751T>C (p.Thr2917=)
| ClinVar dbSNP |
| 1 | g.215867101A>T | CA423313890 | USH2A | c.8751T>A (p.Thr2917=)
| |
| 1 | g.215867102G>A | CA344851392 | USH2A | c.8750C>T (p.Thr2917Ile)
| |
| 1 | g.215867102G>C | CA344851393 | USH2A | c.8750C>G (p.Thr2917Ser)
| |
| 1 | g.215867102G>T | CA344851394 | USH2A | c.8750C>A (p.Thr2917Asn)
| |
| 1 | g.215867102_215867104dup | CA2580062068 | USH2A | c.8748_8750dup (p.Thr2917_Val2918insThr)
| ClinVar |
| 1 | g.215867103T>A | CA344851395 | USH2A | c.8749A>T (p.Thr2917Ser)
| |
| 1 | g.215867103T>C | CA344851396 | USH2A | c.8749A>G (p.Thr2917Ala)
| |
| 1 | g.215867103T>G | CA344851397 | USH2A | c.8749A>C (p.Thr2917Pro)
| |
| 1 | g.215867104C>A | CA423313895 | USH2A | c.8748G>T (p.Val2916=)
| |
| 1 | g.215867104C>G | CA423313896 | USH2A | c.8748G>C (p.Val2916=)
| |
| 1 | g.215867104C>T | CA423313897 | USH2A | c.8748G>A (p.Val2916=)
| |
| 1 | g.215867105A= | CA1145962060 | USH2A | c.8747T= (p.Val2916=)
| |
| 1 | g.215867105A>C | CA344851398 | USH2A | c.8747T>G (p.Val2916Gly)
| |
| 1 | g.215867105A>G | CA37459441 | USH2A | c.8747T>C (p.Val2916Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215867105A>T | CA37459432 | USH2A | c.8747T>A (p.Val2916Glu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215867106C>A | CA344851399 | USH2A | c.8746G>T (p.Val2916Leu)
| |
| 1 | g.215867106C= | CA1220455687 | USH2A | c.8746G= (p.Val2916=)
| |
| 1 | g.215867106C>G | CA344851400 | USH2A | c.8746G>C (p.Val2916Leu)
| |
| 1 | g.215867106C>T | CA344851401 | USH2A | c.8746G>A (p.Val2916Met)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215867107T>A | CA344851403 | USH2A | c.8745A>T (p.Glu2915Asp)
| |
| 1 | g.215867107T>C | CA423313902 | USH2A | c.8745A>G (p.Glu2915=)
| |
| 1 | g.215867107T>G | CA344851402 | USH2A | c.8745A>C (p.Glu2915Asp)
| |
| 1 | g.215867108T>A | CA344851404 | USH2A | c.8744A>T (p.Glu2915Val)
| |
| 1 | g.215867108T>C | CA344851405 | USH2A | c.8744A>G (p.Glu2915Gly)
| |
| 1 | g.215867108T>G | CA344851406 | USH2A | c.8744A>C (p.Glu2915Ala)
| |
| 1 | g.215867109C>A | CA344851407 | USH2A | c.8743G>T (p.Glu2915Ter)
| |
| 1 | g.215867109C>G | CA344851408 | USH2A | c.8743G>C (p.Glu2915Gln)
| |
| 1 | g.215867109C>T | CA344851409 | USH2A | c.8743G>A (p.Glu2915Lys)
| |
| 1 | g.215867110T>A | CA423313908 | USH2A | c.8742A>T (p.Arg2914=)
| |
| 1 | g.215867110T>C | CA423313909 | USH2A | c.8742A>G (p.Arg2914=)
| |
| 1 | g.215867110T>G | CA423313910 | USH2A | c.8742A>C (p.Arg2914=)
| |
| 1 | g.215867111C>A | CA344851410 | USH2A | c.8741G>T (p.Arg2914Leu)
| COSMIC COSMIC |
| 1 | g.215867111C= | CA1220455688 | USH2A | c.8741G= (p.Arg2914=)
| |
| 1 | g.215867111C>G | CA344851411 | USH2A | c.8741G>C (p.Arg2914Pro)
| |
| 1 | g.215867111C>T | CA1394519 | USH2A | c.8741G>A (p.Arg2914Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867112G>A | CA1394520 | USH2A | c.8740C>T (p.Arg2914Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215867112G>C | CA344851412 | USH2A | c.8740C>G (p.Arg2914Gly)
| |
| 1 | g.215867112G= | CA1220455689 | USH2A | c.8740C= (p.Arg2914=)
| |
| 1 | g.215867112G>T | CA423313917 | USH2A | c.8740C>A (p.Arg2914=)
| |
| 1 | g.215867113G>A | CA423313918 | USH2A | c.8739C>T (p.Ser2913=)
| |
| 1 | g.215867113G>C | CA344851413 | USH2A | c.8739C>G (p.Ser2913Arg)
| |
| 1 | g.215867113G>T | CA344851414 | USH2A | c.8739C>A (p.Ser2913Arg)
| |
| 1 | g.215867114C>A | CA344851415 | USH2A | c.8738G>T (p.Ser2913Ile)
| dbSNP |
| 1 | g.215867114C= | CA1220455690 | USH2A | c.8738G= (p.Ser2913=)
| |
| 1 | g.215867114C>G | CA344851417 | USH2A | c.8738G>C (p.Ser2913Thr)
| |
| 1 | g.215867114C>T | CA344851416 | USH2A | c.8738G>A (p.Ser2913Asn)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215867115T>A | CA344851418 | USH2A | c.8737A>T (p.Ser2913Cys)
| |
| 1 | g.215867115T>C | CA344851419 | USH2A | c.8737A>G (p.Ser2913Gly)
| |
| 1 | g.215867115T>G | CA344851420 | USH2A | c.8737A>C (p.Ser2913Arg)
| |
| 1 | g.215867116C>A | CA423313923 | USH2A | c.8736G>T (p.Pro2912=)
| COSMIC COSMIC |
| 1 | g.215867116C= | CA1220455691 | USH2A | c.8736G= (p.Pro2912=)
| |
| 1 | g.215867116C>G | CA423313924 | USH2A | c.8736G>C (p.Pro2912=)
| ClinVar dbSNP |
| 1 | g.215867116C>T | CA37459460 | USH2A | c.8736G>A (p.Pro2912=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867117G>A | CA1394521 | USH2A | c.8735C>T (p.Pro2912Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867117G>C | CA344851421 | USH2A | c.8735C>G (p.Pro2912Arg)
| COSMIC |
| 1 | g.215867117G= | CA1144176820 | USH2A | c.8735C= (p.Pro2912=)
| |
| 1 | g.215867117G>T | CA344851422 | USH2A | c.8735C>A (p.Pro2912Gln)
| gnomAD v4 |
| 1 | g.215867118G>A | CA344851423 | USH2A | c.8734C>T (p.Pro2912Ser)
| |
| 1 | g.215867118G>C | CA1394522 | USH2A | c.8734C>G (p.Pro2912Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867118G= | CA1143727175 | USH2A | c.8734C= (p.Pro2912=)
| |
| 1 | g.215867118G>T | CA344851424 | USH2A | c.8734C>A (p.Pro2912Thr)
| gnomAD v4 |
| 1 | g.215867119T>A | CA423313927 | USH2A | c.8733A>T (p.Thr2911=)
| |
| 1 | g.215867119T>C | CA423313929 | USH2A | c.8733A>G (p.Thr2911=)
| |
| 1 | g.215867119T>G | CA1394523 | USH2A | c.8733A>C (p.Thr2911=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867119T= | CA1220455692 | USH2A | c.8733A= (p.Thr2911=)
| |
| 1 | g.215867120G>A | CA1394524 | USH2A | c.8732C>T (p.Thr2911Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867120G>C | CA344851425 | USH2A | c.8732C>G (p.Thr2911Arg)
| |
| 1 | g.215867120G= | CA1220455693 | USH2A | c.8732C= (p.Thr2911=)
| |
| 1 | g.215867120G>T | CA344851426 | USH2A | c.8732C>A (p.Thr2911Lys)
| |
| 1 | g.215867121T>A | CA344851427 | USH2A | c.8731A>T (p.Thr2911Ser)
| |
| 1 | g.215867121T>C | CA344851429 | USH2A | c.8731A>G (p.Thr2911Ala)
| |
| 1 | g.215867121T>G | CA344851428 | USH2A | c.8731A>C (p.Thr2911Pro)
| gnomAD v4 |
| 1 | g.215867122A= | CA1143953368 | USH2A | c.8730T= (p.Phe2910=)
| |
| 1 | g.215867122A>C | CA344851430 | USH2A | c.8730T>G (p.Phe2910Leu)
| |
| 1 | g.215867122A>G | CA423313933 | USH2A | c.8730T>C (p.Phe2910=)
| |
| 1 | g.215867122A>T | CA245700 | USH2A | c.8730T>A (p.Phe2910Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867125dup | CA2586968206 | USH2A | c.8730dup (p.Thr2911TyrfsTer27)
| |
| 1 | g.215867123A>C | CA344851431 | USH2A | c.8729T>G (p.Phe2910Cys)
| |
| 1 | g.215867123A>G | CA344851432 | USH2A | c.8729T>C (p.Phe2910Ser)
| |
| 1 | g.215867123A>T | CA344851433 | USH2A | c.8729T>A (p.Phe2910Tyr)
| |
| 1 | g.215867124A>C | CA344851434 | USH2A | c.8728T>G (p.Phe2910Val)
| |
| 1 | g.215867124A>G | CA344851435 | USH2A | c.8728T>C (p.Phe2910Leu)
| |
| 1 | g.215867124A>T | CA344851436 | USH2A | c.8728T>A (p.Phe2910Ile)
| |
| 1 | g.215867125A= | CA1220455694 | USH2A | c.8727T= (p.Gly2909=)
| |
| 1 | g.215867125A>C | CA423313939 | USH2A | c.8727T>G (p.Gly2909=)
| |
| 1 | g.215867125A>G | CA423313940 | USH2A | c.8727T>C (p.Gly2909=)
| ClinVar dbSNP |
| 1 | g.215867125A>T | CA423313942 | USH2A | c.8727T>A (p.Gly2909=)
| |
| 1 | g.215867126C>A | CA344851437 | USH2A | c.8726G>T (p.Gly2909Val)
| |
| 1 | g.215867126C= | CA1220455695 | USH2A | c.8726G= (p.Gly2909=)
| |
| 1 | g.215867126C>G | CA344851438 | USH2A | c.8726G>C (p.Gly2909Ala)
| |
| 1 | g.215867126C>T | CA344851439 | USH2A | c.8726G>A (p.Gly2909Asp)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215867127C>A | CA37459482 | USH2A | c.8725G>T (p.Gly2909Cys)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215867127C= | CA1220455696 | USH2A | c.8725G= (p.Gly2909=)
| |
| 1 | g.215867127C>G | CA344851440 | USH2A | c.8725G>C (p.Gly2909Arg)
| |
| 1 | g.215867127C>T | CA1394525 | USH2A | c.8725G>A (p.Gly2909Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215867128C>A | CA423313948 | USH2A | c.8724G>T (p.Val2908=)
| gnomAD v4 |
| 1 | g.215867128C= | CA1141674471 | USH2A | c.8724G= (p.Val2908=)
| |
| 1 | g.215867128C>G | CA1394526 | USH2A | c.8724G>C (p.Val2908=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867128C>T | CA423313945 | USH2A | c.8724G>A (p.Val2908=)
| dbSNP COSMIC COSMIC |
| 1 | g.215867131_215867132del | CA2580611547 | USH2A | c.8723_8724del (p.Val2908GlyfsTer29)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215867129A= | CA1148426591 | USH2A | c.8723T= (p.Val2908=)
| |
| 1 | g.215867129A>C | CA344851441 | USH2A | c.8723T>G (p.Val2908Gly)
| |
| 1 | g.215867129A>G | CA1394527 | USH2A | c.8723T>C (p.Val2908Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867129A>T | CA344851442 | USH2A | c.8723T>A (p.Val2908Glu)
| |
| 1 | g.215867130C>A | CA344851443 | USH2A | c.8722G>T (p.Val2908Leu)
| |
| 1 | g.215867130C>G | CA344851444 | USH2A | c.8722G>C (p.Val2908Leu)
| |
| 1 | g.215867130C>T | CA344851445 | USH2A | c.8722G>A (p.Val2908Met)
| |
| 1 | g.215867131A= | CA1220455697 | USH2A | c.8721T= (p.Ser2907=)
| |
| 1 | g.215867131A>C | CA344851446 | USH2A | c.8721T>G (p.Ser2907Arg)
| |
| 1 | g.215867131A>G | CA423313955 | USH2A | c.8721T>C (p.Ser2907=)
| |
| 1 | g.215867131A>T | CA344851447 | USH2A | c.8721T>A (p.Ser2907Arg)
| ClinVar dbSNP |
| 1 | g.215867132C>A | CA344851448 | USH2A | c.8720G>T (p.Ser2907Ile)
| |
| 1 | g.215867132C= | CA1220455698 | USH2A | c.8720G= (p.Ser2907=)
| |
| 1 | g.215867132C>G | CA344851449 | USH2A | c.8720G>C (p.Ser2907Thr)
| |
| 1 | g.215867132C>T | CA1394528 | USH2A | c.8720G>A (p.Ser2907Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867133T>A | CA344851450 | USH2A | c.8719A>T (p.Ser2907Cys)
| |
| 1 | g.215867133T>C | CA1394530 | USH2A | c.8719A>G (p.Ser2907Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867133T>G | CA1394529 | USH2A | c.8719A>C (p.Ser2907Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867133T= | CA1220455699 | USH2A | c.8719A= (p.Ser2907=)
| |
| 1 | g.215867134_215867135del | CA2574133184 | USH2A | c.8718_8719del (p.Asn2906LysfsTer?)
| |
| 1 | g.215867136_215867138dup | CA529002451 | USH2A | c.8717_8719dup (p.Asn2906_Ser2907insAsn)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215867133_215867140del | CA2747724324 | USH2A | c.8712_8719del (p.His2905CysfsTer?)
| |
| 1 | g.215867134G>A | CA423313960 | USH2A | c.8718C>T (p.Asn2906=)
| |
| 1 | g.215867134G>C | CA344851451 | USH2A | c.8718C>G (p.Asn2906Lys)
| |
| 1 | g.215867134G>T | CA344851452 | USH2A | c.8718C>A (p.Asn2906Lys)
| |
| 1 | g.215867135T>A | CA344851453 | USH2A | c.8717A>T (p.Asn2906Ile)
| |
| 1 | g.215867135T>C | CA344851454 | USH2A | c.8717A>G (p.Asn2906Ser)
| COSMIC COSMIC |
| 1 | g.215867135T>G | CA344851455 | USH2A | c.8717A>C (p.Asn2906Thr)
| |
| 1 | g.215867135_215867140dup | CA2650504861 | USH2A | c.8712_8717dup (p.His2905_Asn2906insLysHis)
| gnomAD v4 |
| 1 | g.215867136T>A | CA344851456 | USH2A | c.8716A>T (p.Asn2906Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867136T>C | CA344851457 | USH2A | c.8716A>G (p.Asn2906Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215867136T>G | CA344851458 | USH2A | c.8716A>C (p.Asn2906His)
| |
| 1 | g.215867136T= | CA1220455700 | USH2A | c.8716A= (p.Asn2906=)
| |
| 1 | g.215867137G>A | CA423313965 | USH2A | c.8715C>T (p.His2905=)
| |
| 1 | g.215867137G>C | CA344851459 | USH2A | c.8715C>G (p.His2905Gln)
| |
| 1 | g.215867137G>T | CA344851460 | USH2A | c.8715C>A (p.His2905Gln)
| |
| 1 | g.215867138T>A | CA344851461 | USH2A | c.8714A>T (p.His2905Leu)
| |
| 1 | g.215867138T>C | CA344851462 | USH2A | c.8714A>G (p.His2905Arg)
| |
| 1 | g.215867138T>G | CA344851463 | USH2A | c.8714A>C (p.His2905Pro)
| |
| 1 | g.215867138dup | CA2573051481 | USH2A | c.8714dup (p.His2905GlnfsTer?)
| ClinVar dbSNP |
| 1 | g.215867139G>A | CA344851464 | USH2A | c.8713C>T (p.His2905Tyr)
| |
| 1 | g.215867139G>C | CA344851465 | USH2A | c.8713C>G (p.His2905Asp)
| |
| 1 | g.215867139G= | CA1220455701 | USH2A | c.8713C= (p.His2905=)
| |
| 1 | g.215867139G>T | CA1394531 | USH2A | c.8713C>A (p.His2905Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867140T>A | CA423313970 | USH2A | c.8712A>T (p.Val2904=)
| |
| 1 | g.215867140T>C | CA1394532 | USH2A | c.8712A>G (p.Val2904=)
| ClinVar dbSNP ExAC gnomAD v4 |
| 1 | g.215867140T>G | CA423313972 | USH2A | c.8712A>C (p.Val2904=)
| |
| 1 | g.215867140T= | CA1220455702 | USH2A | c.8712A= (p.Val2904=)
| |
| 1 | g.215867141A>C | CA344851466 | USH2A | c.8711T>G (p.Val2904Gly)
| |
| 1 | g.215867141A>G | CA344851467 | USH2A | c.8711T>C (p.Val2904Ala)
| |
| 1 | g.215867141A>T | CA344851468 | USH2A | c.8711T>A (p.Val2904Glu)
| |
| 1 | g.215867142C>A | CA344851469 | USH2A | c.8710G>T (p.Val2904Leu)
| ClinVar |
| 1 | g.215867142C= | CA1141881225 | USH2A | c.8710G= (p.Val2904=)
| |
| 1 | g.215867142C>G | CA37459516 | USH2A | c.8710G>C (p.Val2904Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867142C>T | CA1394533 | USH2A | c.8710G>A (p.Val2904Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215867143G>A | CA143638 | USH2A | c.8709C>T (p.Phe2903=)
| ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.215867143G>C | CA344851470 | USH2A | c.8709C>G (p.Phe2903Leu)
| |
| 1 | g.215867143G= | CA1144229149 | USH2A | c.8709C= (p.Phe2903=)
| |
| 1 | g.215867143G>T | CA344851471 | USH2A | c.8709C>A (p.Phe2903Leu)
| |
| 1 | g.215867144A>C | CA344851472 | USH2A | c.8708T>G (p.Phe2903Cys)
| |
| 1 | g.215867144A>G | CA344851473 | USH2A | c.8708T>C (p.Phe2903Ser)
| |
| 1 | g.215867144A>T | CA344851474 | USH2A | c.8708T>A (p.Phe2903Tyr)
| |
| 1 | g.215867145A>C | CA344851476 | USH2A | c.8707T>G (p.Phe2903Val)
| |
| 1 | g.215867145A>G | CA344851477 | USH2A | c.8707T>C (p.Phe2903Leu)
| |
| 1 | g.215867145A>T | CA344851475 | USH2A | c.8707T>A (p.Phe2903Ile)
| |
| 1 | g.215867146G>A | CA423313980 | USH2A | c.8706C>T (p.Leu2902=)
| |
| 1 | g.215867146G>C | CA423313981 | USH2A | c.8706C>G (p.Leu2902=)
| |
| 1 | g.215867146G>T | CA423313982 | USH2A | c.8706C>A (p.Leu2902=)
| |
| 1 | g.215867147A>C | CA344851478 | USH2A | c.8705T>G (p.Leu2902Arg)
| |
| 1 | g.215867147A>G | CA344851479 | USH2A | c.8705T>C (p.Leu2902Pro)
| ClinVar dbSNP |
| 1 | g.215867147A>T | CA344851480 | USH2A | c.8705T>A (p.Leu2902His)
| |
| 1 | g.215867148G>A | CA344851481 | USH2A | c.8704C>T (p.Leu2902Phe)
| |
| 1 | g.215867148G>C | CA344851482 | USH2A | c.8704C>G (p.Leu2902Val)
| |
| 1 | g.215867148G>T | CA344851483 | USH2A | c.8704C>A (p.Leu2902Ile)
| |
| 1 | g.215867149C>A | CA344851486 | USH2A | c.8703G>T (p.Met2901Ile)
| |
| 1 | g.215867149C>G | CA344851484 | USH2A | c.8703G>C (p.Met2901Ile)
| gnomAD v4 |
| 1 | g.215867149C>T | CA344851485 | USH2A | c.8703G>A (p.Met2901Ile)
| |
| 1 | g.215867150A= | CA1143545542 | USH2A | c.8702T= (p.Met2901=)
| |
| 1 | g.215867150A>C | CA344851487 | USH2A | c.8702T>G (p.Met2901Arg)
| |
| 1 | g.215867150A>G | CA37459530 | USH2A | c.8702T>C (p.Met2901Thr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215867150A>T | CA344851488 | USH2A | c.8702T>A (p.Met2901Lys)
| |
| 1 | g.215867151T>A | CA344851489 | USH2A | c.8701A>T (p.Met2901Leu)
| |
| 1 | g.215867151T>C | CA344851490 | USH2A | c.8701A>G (p.Met2901Val)
| |
| 1 | g.215867151T>G | CA344851491 | USH2A | c.8701A>C (p.Met2901Leu)
| |
| 1 | g.215867152A= | CA1220455703 | USH2A | c.8700T= (p.Tyr2900=)
| |
| 1 | g.215867152A>C | CA344851492 | USH2A | c.8700T>G (p.Tyr2900Ter)
| |
| 1 | g.215867152A>G | CA423313987 | USH2A | c.8700T>C (p.Tyr2900=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215867152A>T | CA344851493 | USH2A | c.8700T>A (p.Tyr2900Ter)
| |
| 1 | g.215867153T>A | CA344851494 | USH2A | c.8699A>T (p.Tyr2900Phe)
| |
| 1 | g.215867153T>C | CA344851496 | USH2A | c.8699A>G (p.Tyr2900Cys)
| |
| 1 | g.215867153T>G | CA344851495 | USH2A | c.8699A>C (p.Tyr2900Ser)
| |
| 1 | g.215867154A>C | CA344851497 | USH2A | c.8698T>G (p.Tyr2900Asp)
| |
| 1 | g.215867154A>G | CA344851499 | USH2A | c.8698T>C (p.Tyr2900His)
| |
| 1 | g.215867154A>T | CA344851498 | USH2A | c.8698T>A (p.Tyr2900Asn)
| |
| 1 | g.215867155T>A | CA344851500 | USH2A | c.8697A>T (p.Glu2899Asp)
| |
| 1 | g.215867155T>C | CA423313988 | USH2A | c.8697A>G (p.Glu2899=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215867155T>G | CA344851501 | USH2A | c.8697A>C (p.Glu2899Asp)
| |
| 1 | g.215867155T= | CA1220455704 | USH2A | c.8697A= (p.Glu2899=)
| |
| 1 | g.215867155_215867156insAGTC | CA2747724325 | USH2A | c.8696_8697insGACT (p.Tyr2900ThrfsTer?)
| |
| 1 | g.215867156T>A | CA344851502 | USH2A | c.8696A>T (p.Glu2899Val)
| |
| 1 | g.215867156T>C | CA344851503 | USH2A | c.8696A>G (p.Glu2899Gly)
| dbSNP |
| 1 | g.215867156T>G | CA344851504 | USH2A | c.8696A>C (p.Glu2899Ala)
| |
| 1 | g.215867156T= | CA1220455705 | USH2A | c.8696A= (p.Glu2899=)
| |
| 1 | g.215867157C>A | CA344851505 | USH2A | c.8695G>T (p.Glu2899Ter)
| |
| 1 | g.215867157C= | CA1220455706 | USH2A | c.8695G= (p.Glu2899=)
| |
| 1 | g.215867157C>G | CA344851506 | USH2A | c.8695G>C (p.Glu2899Gln)
| |
| 1 | g.215867157C>T | CA37459536 | USH2A | c.8695G>A (p.Glu2899Lys)
| dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215867158A>C | CA344851507 | USH2A | c.8694T>G (p.Tyr2898Ter)
| |
| 1 | g.215867158A>G | CA423313990 | USH2A | c.8694T>C (p.Tyr2898=)
| ClinVar dbSNP |
| 1 | g.215867158A>T | CA344851508 | USH2A | c.8694T>A (p.Tyr2898Ter)
| dbSNP |
| 1 | g.215867159T>A | CA344851509 | USH2A | c.8693A>T (p.Tyr2898Phe)
| |
| 1 | g.215867159T>C | CA344851510 | USH2A | c.8693A>G (p.Tyr2898Cys)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215867159T>G | CA344851511 | USH2A | c.8693A>C (p.Tyr2898Ser)
| ClinVar dbSNP |
| 1 | g.215867159T= | CA1220455707 | USH2A | c.8693A= (p.Tyr2898=)
| |
| 1 | g.215867160A= | CA1220455708 | USH2A | c.8692T= (p.Tyr2898=)
| |
| 1 | g.215867160A>C | CA344851514 | USH2A | c.8692T>G (p.Tyr2898Asp)
| |
| 1 | g.215867160A>G | CA344851513 | USH2A | c.8692T>C (p.Tyr2898His)
| dbSNP |
| 1 | g.215867160A>T | CA344851512 | USH2A | c.8692T>A (p.Tyr2898Asn)
| |
| 1 | g.215867161G>A | CA423313992 | USH2A | c.8691C>T (p.Thr2897=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215867161G>C | CA423313994 | USH2A | c.8691C>G (p.Thr2897=)
| |
| 1 | g.215867161G= | CA1220455709 | USH2A | c.8691C= (p.Thr2897=)
| |
| 1 | g.215867161G>T | CA423313995 | USH2A | c.8691C>A (p.Thr2897=)
| |
| 1 | g.215867162G>A | CA344851515 | USH2A | c.8690C>T (p.Thr2897Ile)
| gnomAD v4 |
| 1 | g.215867162G>C | CA344851516 | USH2A | c.8690C>G (p.Thr2897Ser)
| |
| 1 | g.215867162G>T | CA344851517 | USH2A | c.8690C>A (p.Thr2897Asn)
| COSMIC |
| 1 | g.215867163T>A | CA344851518 | USH2A | c.8689A>T (p.Thr2897Ser)
| |
| 1 | g.215867163T>C | CA1394534 | USH2A | c.8689A>G (p.Thr2897Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867163T>G | CA344851519 | USH2A | c.8689A>C (p.Thr2897Pro)
| |
| 1 | g.215867163T= | CA1220455710 | USH2A | c.8689A= (p.Thr2897=)
| |
| 1 | g.215867163_215867164insACA | CA2747724326 | USH2A | c.8688_8689insTGT (p.Thr2896_Thr2897insCys)
| |
| 1 | g.215867164T>A | CA423313997 | USH2A | c.8688A>T (p.Thr2896=)
| |
| 1 | g.215867164T>C | CA423313998 | USH2A | c.8688A>G (p.Thr2896=)
| |
| 1 | g.215867164T>G | CA423313999 | USH2A | c.8688A>C (p.Thr2896=)
| |
| 1 | g.215867165del | CA2830534970 | USH2A | c.8687del (p.Thr2896LysfsTer21)
| |
| 1 | g.215867165G>A | CA344851520 | USH2A | c.8687C>T (p.Thr2896Ile)
| ClinVar dbSNP |
| 1 | g.215867165G>C | CA344851521 | USH2A | c.8687C>G (p.Thr2896Arg)
| |
| 1 | g.215867165G= | CA1220455711 | USH2A | c.8687C= (p.Thr2896=)
| |
| 1 | g.215867165G>T | CA344851522 | USH2A | c.8687C>A (p.Thr2896Lys)
| |
| 1 | g.215867166T>A | CA344851523 | USH2A | c.8686A>T (p.Thr2896Ser)
| |
| 1 | g.215867166T>C | CA344851524 | USH2A | c.8686A>G (p.Thr2896Ala)
| gnomAD v4 |
| 1 | g.215867166T>G | CA344851525 | USH2A | c.8686A>C (p.Thr2896Pro)
| |
| 1 | g.215867170_215867175del | CA2650504862 | USH2A | c.8682-1_8686del
| gnomAD v4 |
| 1 | g.215867167A= | CA1220455712 | USH2A | c.8685T= (p.Phe2895=)
| |
| 1 | g.215867167A>C | CA37459548 | USH2A | c.8685T>G (p.Phe2895Leu)
| dbSNP |
| 1 | g.215867167A>G | CA423314000 | USH2A | c.8685T>C (p.Phe2895=)
| |
| 1 | g.215867167A>T | CA344851526 | USH2A | c.8685T>A (p.Phe2895Leu)
| |
| 1 | g.215867167_215867168insC | CA2830534974 | USH2A | c.8684_8685insG (p.Phe2895LeufsTer5)
| |
| 1 | g.215867168A>C | CA344851527 | USH2A | c.8684T>G (p.Phe2895Cys)
| |
| 1 | g.215867168A>G | CA344851528 | USH2A | c.8684T>C (p.Phe2895Ser)
| |
| 1 | g.215867168A>T | CA344851529 | USH2A | c.8684T>A (p.Phe2895Tyr)
| |
| 1 | g.215867169A= | CA1220455714 | USH2A | c.8683T= (p.Phe2895=)
| |
| 1 | g.215867169A>C | CA344851530 | USH2A | c.8683T>G (p.Phe2895Val)
| |
| 1 | g.215867169A>G | CA37459549 | USH2A | c.8683T>C (p.Phe2895Leu)
| dbSNP gnomAD v4 |
| 1 | g.215867169A>T | CA344851531 | USH2A | c.8683T>A (p.Phe2895Ile)
| |
| 1 | g.215867169_215867170delinsAC | CA1220455713 | USH2A | c.8682_8683delinsGT (p.Arg2894=)
| |
| 1 | g.215867170C>A | CA344851532 | USH2A | c.8682G>T (p.Arg2894Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215867170C= | CA1220455715 | USH2A | c.8682G= (p.Arg2894=)
| |
| 1 | g.215867170C>G | CA344851533 | USH2A | c.8682G>C (p.Arg2894Ser)
| |
| 1 | g.215867170C>T | CA1394535 | USH2A | c.8682G>A (p.Arg2894=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867170_215867171delinsCC | CA1144233394 | USH2A | c.8682-1_8682delinsGG
| |
| 1 | g.215867171del | CA270161 | USH2A | c.8682del
| ClinVar dbSNP |
| 1 | g.215867171C>A | CA344851534 | USH2A | c.8682-1G>T (n.8682-1G>T)
| COSMIC COSMIC |
| 1 | g.215867171C= | CA1220455716 | USH2A | c.8682-1G= (n.8682-1G=)
| |
| 1 | g.215867171C>G | CA344851535 | USH2A | c.8682-1G>C (n.8682-1G>C)
| |
| 1 | g.215867171C>T | CA344851536 | USH2A | c.8682-1G>A (n.8682-1G>A)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215867171_215867173delinsTT | CA2695199997 | USH2A | c.8682-3_8682-1delinsAA (n.8682-3_8682-1delinsAA)
| ClinVar |
| 1 | g.215867172T>A | CA344851539 | USH2A | c.8682-2A>T (n.8682-2A>T)
| |
| 1 | g.215867172T>C | CA344851537 | USH2A | c.8682-2A>G (n.8682-2A>G)
| |
| 1 | g.215867172T>G | CA344851538 | USH2A | c.8682-2A>C (n.8682-2A>C)
| ClinVar dbSNP |
| 1 | g.215867172T= | CA1220455717 | USH2A | c.8682-2A= (n.8682-2A=)
| |
| 1 | g.215867173A= | CA1220455718 | USH2A | c.8682-3T= (n.8682-3T=)
| |
| 1 | g.215867173A>C | CA1394536 | USH2A | c.8682-3T>G (n.8682-3T>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867174_215867176del | CA2830534975 | USH2A | c.8682-5_8682-3del (n.8682-5_8682-3del)
| |
| 1 | g.215867178_215867313del | CA2747724327 | USH2A | c.8682-138_8682-3del (n.8682-138_8682-3del)
| |
| 1 | g.215867173_215867174insGTC | CA2747724328 | USH2A | c.8682-4_8682-3insGAC (n.8682-4_8682-3insGAC)
| |
| 1 | g.215867174A>C | CA2574133185 | USH2A | c.8682-4T>G (n.8682-4T>G)
| gnomAD v4 |
| 1 | g.215867175A= | CA1220455719 | USH2A | c.8682-5T= (n.8682-5T=)
| |
| 1 | g.215867175A>G | CA916082123 | USH2A | c.8682-5T>C (n.8682-5T>C)
| ClinVar dbSNP |
| 1 | g.215867176A= | CA1220455720 | USH2A | c.8682-6T= (n.8682-6T=)
| |
| 1 | g.215867181_215867183dup | CA529002456 | USH2A | c.8682-9_8682-7dup (n.8682-9_8682-7dup)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215867181_215867183del | CA2650504863 | USH2A | c.8682-9_8682-7del (n.8682-9_8682-7del)
| gnomAD v4 |
| 1 | g.215867178G>A | CA529002457 | USH2A | c.8682-8C>T (n.8682-8C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867178G= | CA1220455721 | USH2A | c.8682-8C= (n.8682-8C=)
| |
| 1 | g.215867179T>C | CA275277 | USH2A | c.8682-9A>G (n.8682-9A>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867179T= | CA1143856721 | USH2A | c.8682-9A= (n.8682-9A=)
| |
| 1 | g.215867184_215867188del | CA2747724329 | USH2A | c.8682-13_8682-9del (n.8682-13_8682-9del)
| |
