| 1 | g.215799056_215799077delinsCTGCCACAGCAGGAATCACCAA | CA1220426216 | USH2A | c.9788_9809delinsTTGGTGATTCCTGCTGTGGCAG (p.Ile3263=)
| |
| 1 | g.215799062_215799082del | CA529002276 | USH2A | c.9788_9808del (p.Ile3263_Gly3269del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215799064G>A | CA423430364 | USH2A | c.9801C>T (p.Cys3267=)
| |
| 1 | g.215799064G>C | CA344849682 | USH2A | c.9801C>G (p.Cys3267Trp)
| |
| 1 | g.215799064G>T | CA344849689 | USH2A | c.9801C>A (p.Cys3267Ter)
| |
| 1 | g.215799065C>A | CA344849700 | USH2A | c.9800G>T (p.Cys3267Phe)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215799065C= | CA1220426230 | USH2A | c.9800G= (p.Cys3267=)
| |
| 1 | g.215799065C>G | CA344849698 | USH2A | c.9800G>C (p.Cys3267Ser)
| |
| 1 | g.215799065C>T | CA344849694 | USH2A | c.9800G>A (p.Cys3267Tyr)
| |
| 1 | g.215799066A= | CA1141189281 | USH2A | c.9799T= (p.Cys3267=)
| |
| 1 | g.215799066A>C | CA344849705 | USH2A | c.9799T>G (p.Cys3267Gly)
| |
| 1 | g.215799066A>G | CA262135 | USH2A | c.9799T>C (p.Cys3267Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215799066A>T | CA344849710 | USH2A | c.9799T>A (p.Cys3267Ser)
| |
| 1 | g.215799067G>A | CA423430367 | USH2A | c.9798C>T (p.Ser3266=)
| ClinVar dbSNP |
| 1 | g.215799067G>C | CA423430365 | USH2A | c.9798C>G (p.Ser3266=)
| |
| 1 | g.215799067G>T | CA423430366 | USH2A | c.9798C>A (p.Ser3266=)
| |
| 1 | g.215799068G>A | CA344849714 | USH2A | c.9797C>T (p.Ser3266Phe)
| gnomAD v4 |
| 1 | g.215799068G>C | CA344849715 | USH2A | c.9797C>G (p.Ser3266Cys)
| |
| 1 | g.215799068G>T | CA344849719 | USH2A | c.9797C>A (p.Ser3266Tyr)
| |
| 1 | g.215799069A>C | CA344849725 | USH2A | c.9796T>G (p.Ser3266Ala)
| |
| 1 | g.215799069A>G | CA344849734 | USH2A | c.9796T>C (p.Ser3266Pro)
| |
| 1 | g.215799069A>T | CA344849729 | USH2A | c.9796T>A (p.Ser3266Thr)
| COSMIC COSMIC |
| 1 | g.215799070A>C | CA344849742 | USH2A | c.9795T>G (p.Asp3265Glu)
| |
| 1 | g.215799070A>G | CA423430368 | USH2A | c.9795T>C (p.Asp3265=)
| |
| 1 | g.215799070A>T | CA344849744 | USH2A | c.9795T>A (p.Asp3265Glu)
| |
| 1 | g.215799071T>A | CA344849747 | USH2A | c.9794A>T (p.Asp3265Val)
| |
| 1 | g.215799071T>C | CA344849748 | USH2A | c.9794A>G (p.Asp3265Gly)
| |
| 1 | g.215799071T>G | CA344849751 | USH2A | c.9794A>C (p.Asp3265Ala)
| |
| 1 | g.215799072C>A | CA344849755 | USH2A | c.9793G>T (p.Asp3265Tyr)
| |
| 1 | g.215799072C>G | CA344849757 | USH2A | c.9793G>C (p.Asp3265His)
| |
| 1 | g.215799072C>T | CA344849761 | USH2A | c.9793G>A (p.Asp3265Asn)
| gnomAD v4 |
| 1 | g.215799073A>C | CA423430371 | USH2A | c.9792T>G (p.Gly3264=)
| |
| 1 | g.215799073A>G | CA423430369 | USH2A | c.9792T>C (p.Gly3264=)
| |
| 1 | g.215799073A>T | CA423430370 | USH2A | c.9792T>A (p.Gly3264=)
| |
| 1 | g.215799074C>A | CA344849771 | USH2A | c.9791G>T (p.Gly3264Val)
| COSMIC |
| 1 | g.215799074C>G | CA344849772 | USH2A | c.9791G>C (p.Gly3264Ala)
| |
| 1 | g.215799074C>T | CA344849785 | USH2A | c.9791G>A (p.Gly3264Asp)
| |
| 1 | g.215799075del | CA2586968180 | USH2A | c.9791del (p.Gly3264ValfsTer?)
| |
| 1 | g.215799075C>A | CA344849801 | USH2A | c.9790G>T (p.Gly3264Cys)
| |
| 1 | g.215799075C>G | CA344849802 | USH2A | c.9790G>C (p.Gly3264Arg)
| |
| 1 | g.215799075C>T | CA344849800 | USH2A | c.9790G>A (p.Gly3264Ser)
| |
| 1 | g.215799076A>C | CA344849803 | USH2A | c.9789T>G (p.Ile3263Met)
| |
| 1 | g.215799076A>G | CA423430373 | USH2A | c.9789T>C (p.Ile3263=)
| |
| 1 | g.215799076A>T | CA423430372 | USH2A | c.9789T>A (p.Ile3263=)
| |
| 1 | g.215799077A= | CA1220426239 | USH2A | c.9788T= (p.Ile3263=)
| |
| 1 | g.215799077A>C | CA344849809 | USH2A | c.9788T>G (p.Ile3263Ser)
| |
| 1 | g.215799077A>G | CA37448603 | USH2A | c.9788T>C (p.Ile3263Thr)
| dbSNP gnomAD v4 |
| 1 | g.215799077A>T | CA344849812 | USH2A | c.9788T>A (p.Ile3263Asn)
| |
| 1 | g.215799078T>A | CA344849816 | USH2A | c.9787A>T (p.Ile3263Phe)
| |
| 1 | g.215799078T>C | CA37448628 | USH2A | c.9787A>G (p.Ile3263Val)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215799078T>G | CA344849817 | USH2A | c.9787A>C (p.Ile3263Leu)
| |
| 1 | g.215799078T= | CA1220426240 | USH2A | c.9787A= (p.Ile3263=)
| |
| 1 | g.215799079G>A | CA423430374 | USH2A | c.9786C>T (p.Gly3262=)
| |
| 1 | g.215799079G>C | CA423430375 | USH2A | c.9786C>G (p.Gly3262=)
| |
| 1 | g.215799079G>T | CA423430376 | USH2A | c.9786C>A (p.Gly3262=)
| |
| 1 | g.215799080C>A | CA344849833 | USH2A | c.9785G>T (p.Gly3262Val)
| ClinVar dbSNP |
| 1 | g.215799080C= | CA1220426242 | USH2A | c.9785G= (p.Gly3262=)
| |
| 1 | g.215799080C>G | CA344849837 | USH2A | c.9785G>C (p.Gly3262Ala)
| |
| 1 | g.215799080C>T | CA344849841 | USH2A | c.9785G>A (p.Gly3262Asp)
| |
| 1 | g.215799081C>A | CA344849845 | USH2A | c.9784G>T (p.Gly3262Cys)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215799081C= | CA1220426247 | USH2A | c.9784G= (p.Gly3262=)
| |
| 1 | g.215799081C>G | CA344849847 | USH2A | c.9784G>C (p.Gly3262Arg)
| |
| 1 | g.215799081C>T | CA344849850 | USH2A | c.9784G>A (p.Gly3262Ser)
| |
| 1 | g.215799082A>C | CA423430378 | USH2A | c.9783T>G (p.Val3261=)
| |
| 1 | g.215799082A>G | CA423430379 | USH2A | c.9783T>C (p.Val3261=)
| |
| 1 | g.215799082A>T | CA423430382 | USH2A | c.9783T>A (p.Val3261=)
| |
| 1 | g.215799083A>C | CA344849855 | USH2A | c.9782T>G (p.Val3261Gly)
| |
| 1 | g.215799083A>G | CA344849864 | USH2A | c.9782T>C (p.Val3261Ala)
| gnomAD v4 |
| 1 | g.215799083A>T | CA344849868 | USH2A | c.9782T>A (p.Val3261Asp)
| |
| 1 | g.215799084C>A | CA344849873 | USH2A | c.9781G>T (p.Val3261Phe)
| |
| 1 | g.215799084C= | CA1220426251 | USH2A | c.9781G= (p.Val3261=)
| |
| 1 | g.215799084C>G | CA344849874 | USH2A | c.9781G>C (p.Val3261Leu)
| ClinVar dbSNP |
| 1 | g.215799084C>T | CA344849875 | USH2A | c.9781G>A (p.Val3261Ile)
| gnomAD v4 |
| 1 | g.215799085A>C | CA423430387 | USH2A | c.9780T>G (p.Ser3260=)
| |
| 1 | g.215799085A>G | CA423430388 | USH2A | c.9780T>C (p.Ser3260=)
| |
| 1 | g.215799085A>T | CA423430389 | USH2A | c.9780T>A (p.Ser3260=)
| |
| 1 | g.215799086G>A | CA344849889 | USH2A | c.9779C>T (p.Ser3260Phe)
| |
| 1 | g.215799086G>C | CA344849880 | USH2A | c.9779C>G (p.Ser3260Cys)
| |
| 1 | g.215799086G>T | CA344849887 | USH2A | c.9779C>A (p.Ser3260Tyr)
| |
| 1 | g.215799087A>C | CA344849893 | USH2A | c.9778T>G (p.Ser3260Ala)
| |
| 1 | g.215799087A>G | CA344849920 | USH2A | c.9778T>C (p.Ser3260Pro)
| |
| 1 | g.215799087A>T | CA344849921 | USH2A | c.9778T>A (p.Ser3260Thr)
| |
| 1 | g.215799088A>C | CA423430391 | USH2A | c.9777T>G (p.Val3259=)
| ClinVar dbSNP |
| 1 | g.215799088A>G | CA423430392 | USH2A | c.9777T>C (p.Val3259=)
| |
| 1 | g.215799088A>T | CA423430393 | USH2A | c.9777T>A (p.Val3259=)
| |
| 1 | g.215799089A>C | CA344849925 | USH2A | c.9776T>G (p.Val3259Gly)
| |
| 1 | g.215799089A>G | CA344849928 | USH2A | c.9776T>C (p.Val3259Ala)
| |
| 1 | g.215799089A>T | CA344849930 | USH2A | c.9776T>A (p.Val3259Asp)
| |
| 1 | g.215799090C>A | CA344849937 | USH2A | c.9775G>T (p.Val3259Phe)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215799090C= | CA1220426253 | USH2A | c.9775G= (p.Val3259=)
| |
| 1 | g.215799090C>G | CA344849939 | USH2A | c.9775G>C (p.Val3259Leu)
| |
| 1 | g.215799090C>T | CA344849943 | USH2A | c.9775G>A (p.Val3259Ile)
| |
| 1 | g.215799090_215799091insT | CA2650503221 | USH2A | c.9774_9775insA (p.Val3259SerfsTer7)
| gnomAD v4 |
| 1 | g.215799091C>A | CA423430397 | USH2A | c.9774G>T (p.Arg3258=)
| COSMIC COSMIC |
| 1 | g.215799091C>G | CA423430398 | USH2A | c.9774G>C (p.Arg3258=)
| |
| 1 | g.215799091C>T | CA423430399 | USH2A | c.9774G>A (p.Arg3258=)
| gnomAD v4 |
| 1 | g.215799092C>A | CA344849951 | USH2A | c.9773G>T (p.Arg3258Leu)
| |
| 1 | g.215799092C= | CA1220426258 | USH2A | c.9773G= (p.Arg3258=)
| |
| 1 | g.215799092C>G | CA344849955 | USH2A | c.9773G>C (p.Arg3258Pro)
| |
| 1 | g.215799092C>T | CA1394203 | USH2A | c.9773G>A (p.Arg3258Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215799093G>A | CA1394204 | USH2A | c.9772C>T (p.Arg3258Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215799093G>C | CA344849966 | USH2A | c.9772C>G (p.Arg3258Gly)
| |
| 1 | g.215799093G= | CA1220426264 | USH2A | c.9772C= (p.Arg3258=)
| |
| 1 | g.215799093G>T | CA423430400 | USH2A | c.9772C>A (p.Arg3258=)
| ClinVar |
| 1 | g.215799094A= | CA1220426270 | USH2A | c.9771T= (p.Asn3257=)
| |
| 1 | g.215799094A>C | CA344849987 | USH2A | c.9771T>G (p.Asn3257Lys)
| |
| 1 | g.215799094A>G | CA1394205 | USH2A | c.9771T>C (p.Asn3257=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215799094A>T | CA344849993 | USH2A | c.9771T>A (p.Asn3257Lys)
| |
| 1 | g.215799095T>A | CA344850000 | USH2A | c.9770A>T (p.Asn3257Ile)
| |
| 1 | g.215799095T>C | CA1394206 | USH2A | c.9770A>G (p.Asn3257Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215799095T>G | CA344850005 | USH2A | c.9770A>C (p.Asn3257Thr)
| |
| 1 | g.215799095T= | CA1220426271 | USH2A | c.9770A= (p.Asn3257=)
| |
| 1 | g.215799096dup | CA2586968183 | USH2A | c.9770dup (p.Asn3257LysfsTer9)
| |
| 1 | g.215799096T>A | CA344850010 | USH2A | c.9769A>T (p.Asn3257Tyr)
| |
| 1 | g.215799096T>C | CA344850008 | USH2A | c.9769A>G (p.Asn3257Asp)
| |
| 1 | g.215799096T>G | CA344850009 | USH2A | c.9769A>C (p.Asn3257His)
| |
| 1 | g.215799097G>A | CA423430408 | USH2A | c.9768C>T (p.His3256=)
| ClinVar |
| 1 | g.215799097G>C | CA344850012 | USH2A | c.9768C>G (p.His3256Gln)
| |
| 1 | g.215799097G>T | CA344850015 | USH2A | c.9768C>A (p.His3256Gln)
| |
| 1 | g.215799098T>A | CA344850020 | USH2A | c.9767A>T (p.His3256Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215799098T>C | CA344850024 | USH2A | c.9767A>G (p.His3256Arg)
| |
| 1 | g.215799098T>G | CA344850028 | USH2A | c.9767A>C (p.His3256Pro)
| |
| 1 | g.215799098T= | CA1220426273 | USH2A | c.9767A= (p.His3256=)
| |
| 1 | g.215799099G>A | CA344850031 | USH2A | c.9766C>T (p.His3256Tyr)
| |
| 1 | g.215799099G>C | CA344850033 | USH2A | c.9766C>G (p.His3256Asp)
| |
| 1 | g.215799099G>T | CA344850032 | USH2A | c.9766C>A (p.His3256Asn)
| gnomAD v4 |
| 1 | g.215799100C>A | CA344850036 | USH2A | c.9765G>T (p.Gln3255His)
| |
| 1 | g.215799100C>G | CA344850041 | USH2A | c.9765G>C (p.Gln3255His)
| |
| 1 | g.215799100C>T | CA423430414 | USH2A | c.9765G>A (p.Gln3255=)
| |
| 1 | g.215799101T>A | CA344850052 | USH2A | c.9764A>T (p.Gln3255Leu)
| gnomAD v4 |
| 1 | g.215799101T>C | CA344850053 | USH2A | c.9764A>G (p.Gln3255Arg)
| gnomAD v4 |
| 1 | g.215799101T>G | CA344850060 | USH2A | c.9764A>C (p.Gln3255Pro)
| |
| 1 | g.215799102G>A | CA344850064 | USH2A | c.9763C>T (p.Gln3255Ter)
| ClinVar dbSNP |
| 1 | g.215799102G>C | CA344850067 | USH2A | c.9763C>G (p.Gln3255Glu)
| |
| 1 | g.215799102G= | CA1220426276 | USH2A | c.9763C= (p.Gln3255=)
| |
| 1 | g.215799102G>T | CA344850070 | USH2A | c.9763C>A (p.Gln3255Lys)
| |
| 1 | g.215799103T>A | CA344850075 | USH2A | c.9762A>T (p.Glu3254Asp)
| |
| 1 | g.215799103T>C | CA423430418 | USH2A | c.9762A>G (p.Glu3254=)
| COSMIC COSMIC |
| 1 | g.215799103T>G | CA344850078 | USH2A | c.9762A>C (p.Glu3254Asp)
| ClinVar |
| 1 | g.215799104T>A | CA344850092 | USH2A | c.9761A>T (p.Glu3254Val)
| |
| 1 | g.215799104T>C | CA344850088 | USH2A | c.9761A>G (p.Glu3254Gly)
| |
| 1 | g.215799104T>G | CA344850087 | USH2A | c.9761A>C (p.Glu3254Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215799104T= | CA1220426279 | USH2A | c.9761A= (p.Glu3254=)
| |
| 1 | g.215799105C>A | CA344850096 | USH2A | c.9760G>T (p.Glu3254Ter)
| gnomAD v4 |
| 1 | g.215799105C= | CA1220426282 | USH2A | c.9760G= (p.Glu3254=)
| |
| 1 | g.215799105C>G | CA344850100 | USH2A | c.9760G>C (p.Glu3254Gln)
| |
| 1 | g.215799105C>T | CA344850103 | USH2A | c.9760G>A (p.Glu3254Lys)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215799106A>C | CA344850106 | USH2A | c.9759T>G (p.Asp3253Glu)
| |
| 1 | g.215799106A>G | CA423430425 | USH2A | c.9759T>C (p.Asp3253=)
| ClinVar dbSNP |
| 1 | g.215799106A>T | CA344850107 | USH2A | c.9759T>A (p.Asp3253Glu)
| |
| 1 | g.215799107T>A | CA344850113 | USH2A | c.9758A>T (p.Asp3253Val)
| |
| 1 | g.215799107T>C | CA344850111 | USH2A | c.9758A>G (p.Asp3253Gly)
| gnomAD v4 |
| 1 | g.215799107T>G | CA344850109 | USH2A | c.9758A>C (p.Asp3253Ala)
| |
| 1 | g.215799108C>A | CA344850117 | USH2A | c.9757G>T (p.Asp3253Tyr)
| |
| 1 | g.215799108C>G | CA344850120 | USH2A | c.9757G>C (p.Asp3253His)
| |
| 1 | g.215799108C>T | CA344850131 | USH2A | c.9757G>A (p.Asp3253Asn)
| |
| 1 | g.215799109T>A | CA423430427 | USH2A | c.9756A>T (p.Pro3252=)
| |
| 1 | g.215799109T>C | CA423430428 | USH2A | c.9756A>G (p.Pro3252=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215799109T>G | CA423430429 | USH2A | c.9756A>C (p.Pro3252=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215799109T= | CA1220426284 | USH2A | c.9756A= (p.Pro3252=)
| |
| 1 | g.215799110G>A | CA37448693 | USH2A | c.9755C>T (p.Pro3252Leu)
| dbSNP COSMIC COSMIC |
| 1 | g.215799110G>C | CA344850134 | USH2A | c.9755C>G (p.Pro3252Arg)
| |
| 1 | g.215799110G= | CA1220426285 | USH2A | c.9755C= (p.Pro3252=)
| |
| 1 | g.215799110G>T | CA344850136 | USH2A | c.9755C>A (p.Pro3252Gln)
| |
| 1 | g.215799111G>A | CA344850156 | USH2A | c.9754C>T (p.Pro3252Ser)
| COSMIC COSMIC |
| 1 | g.215799111G>C | CA344850140 | USH2A | c.9754C>G (p.Pro3252Ala)
| gnomAD v4 |
| 1 | g.215799111G>T | CA344850143 | USH2A | c.9754C>A (p.Pro3252Thr)
| |
| 1 | g.215799112A>C | CA344850159 | USH2A | c.9753T>G (p.Cys3251Trp)
| |
| 1 | g.215799112A>G | CA423430433 | USH2A | c.9753T>C (p.Cys3251=)
| |
| 1 | g.215799112A>T | CA344850163 | USH2A | c.9753T>A (p.Cys3251Ter)
| |
| 1 | g.215799113C>A | CA344850169 | USH2A | c.9752G>T (p.Cys3251Phe)
| |
| 1 | g.215799113C= | CA1220426286 | USH2A | c.9752G= (p.Cys3251=)
| |
| 1 | g.215799113C>G | CA344850175 | USH2A | c.9752G>C (p.Cys3251Ser)
| |
| 1 | g.215799113C>T | CA344850179 | USH2A | c.9752G>A (p.Cys3251Tyr)
| dbSNP gnomAD v4 |
| 1 | g.215799114A= | CA1144233500 | USH2A | c.9751T= (p.Cys3251=)
| |
| 1 | g.215799114A>C | CA344850182 | USH2A | c.9751T>G (p.Cys3251Gly)
| |
| 1 | g.215799114A>G | CA270162 | USH2A | c.9751T>C (p.Cys3251Arg)
| ClinVar dbSNP |
| 1 | g.215799114A>T | CA344850187 | USH2A | c.9751T>A (p.Cys3251Ser)
| |
| 1 | g.215799115G>A | CA423430438 | USH2A | c.9750C>T (p.Cys3250=)
| |
| 1 | g.215799115G>C | CA344850191 | USH2A | c.9750C>G (p.Cys3250Trp)
| |
| 1 | g.215799115G>T | CA344850196 | USH2A | c.9750C>A (p.Cys3250Ter)
| COSMIC COSMIC |
| 1 | g.215799116C>A | CA344850201 | USH2A | c.9749G>T (p.Cys3250Phe)
| |
| 1 | g.215799116C= | CA1141619040 | USH2A | c.9749G= (p.Cys3250=)
| |
| 1 | g.215799116C>G | CA344850204 | USH2A | c.9749G>C (p.Cys3250Ser)
| |
| 1 | g.215799116C>T | CA1394207 | USH2A | c.9749G>A (p.Cys3250Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215799117A>C | CA344850210 | USH2A | c.9748T>G (p.Cys3250Gly)
| gnomAD v4 |
| 1 | g.215799117A>G | CA344850215 | USH2A | c.9748T>C (p.Cys3250Arg)
| |
| 1 | g.215799117A>T | CA344850214 | USH2A | c.9748T>A (p.Cys3250Ser)
| |
| 1 | g.215799117_215799118insGAGAGAGTGAGAAAT | CA2566636248 | USH2A | c.9747_9748insATTTCTCACTCTCTC (p.Val3249_Cys3250insIleSerHisSerLeu)
| |
| 1 | g.215799118T>A | CA1394209 | USH2A | c.9747A>T (p.Val3249=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215799118T>C | CA1394208 | USH2A | c.9747A>G (p.Val3249=)
| ClinVar dbSNP ExAC gnomAD v4 |
| 1 | g.215799118T>G | CA423430445 | USH2A | c.9747A>C (p.Val3249=)
| |
| 1 | g.215799118T= | CA1220426293 | USH2A | c.9747A= (p.Val3249=)
| |
| 1 | g.215799119A>C | CA344850220 | USH2A | c.9746T>G (p.Val3249Gly)
| |
| 1 | g.215799119A>G | CA344850224 | USH2A | c.9746T>C (p.Val3249Ala)
| |
| 1 | g.215799119A>T | CA344850225 | USH2A | c.9746T>A (p.Val3249Glu)
| |
| 1 | g.215799120del | CA2574001307 | USH2A | c.9745del (p.Val3249TyrfsTer?)
| |
| 1 | g.215799120C>A | CA344850226 | USH2A | c.9745G>T (p.Val3249Leu)
| |
| 1 | g.215799120C= | CA1220426298 | USH2A | c.9745G= (p.Val3249=)
| |
| 1 | g.215799120C>G | CA344850227 | USH2A | c.9745G>C (p.Val3249Leu)
| ClinVar dbSNP |
| 1 | g.215799120C>T | CA344850231 | USH2A | c.9745G>A (p.Val3249Ile)
| gnomAD v4 |
| 1 | g.215799121T>A | CA344850233 | USH2A | c.9744A>T (p.Glu3248Asp)
| |
| 1 | g.215799121T>C | CA423430452 | USH2A | c.9744A>G (p.Glu3248=)
| ClinVar gnomAD v4 |
| 1 | g.215799121T>G | CA344850236 | USH2A | c.9744A>C (p.Glu3248Asp)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215799121T= | CA1220426301 | USH2A | c.9744A= (p.Glu3248=)
| |
| 1 | g.215799122T>A | CA344850256 | USH2A | c.9743A>T (p.Glu3248Val)
| |
| 1 | g.215799122T>C | CA344850260 | USH2A | c.9743A>G (p.Glu3248Gly)
| |
| 1 | g.215799122T>G | CA344850274 | USH2A | c.9743A>C (p.Glu3248Ala)
| |
| 1 | g.215799123C>A | CA344850284 | USH2A | c.9742G>T (p.Glu3248Ter)
| |
| 1 | g.215799123C>G | CA344850288 | USH2A | c.9742G>C (p.Glu3248Gln)
| |
| 1 | g.215799123C>T | CA344850286 | USH2A | c.9742G>A (p.Glu3248Lys)
| gnomAD v4 |
| 1 | g.215799124A>C | CA423430456 | USH2A | c.9741T>G (p.Gly3247=)
| |
| 1 | g.215799124A>G | CA423430457 | USH2A | c.9741T>C (p.Gly3247=)
| gnomAD v4 |
| 1 | g.215799124A>T | CA423430455 | USH2A | c.9741T>A (p.Gly3247=)
| |
| 1 | g.215799125C>A | CA344850302 | USH2A | c.9740G>T (p.Gly3247Val)
| |
| 1 | g.215799125C>G | CA344850305 | USH2A | c.9740G>C (p.Gly3247Ala)
| |
| 1 | g.215799125C>T | CA344850310 | USH2A | c.9740G>A (p.Gly3247Asp)
| |
| 1 | g.215799126C>A | CA344850313 | USH2A | c.9740-1G>T (n.9740-1G>T)
| COSMIC COSMIC |
| 1 | g.215799126C= | CA1220426304 | USH2A | c.9740-1G= (n.9740-1G=)
| |
| 1 | g.215799126C>G | CA344850325 | USH2A | c.9740-1G>C (n.9740-1G>C)
| |
| 1 | g.215799126C>T | CA344850329 | USH2A | c.9740-1G>A (n.9740-1G>A)
| ClinVar dbSNP |
| 1 | g.215799127T>A | CA344850334 | USH2A | c.9740-2A>T (n.9740-2A>T)
| |
| 1 | g.215799127T>C | CA344850338 | USH2A | c.9740-2A>G (n.9740-2A>G)
| ClinVar dbSNP |
| 1 | g.215799127T>G | CA344850344 | USH2A | c.9740-2A>C (n.9740-2A>C)
| |
| 1 | g.215799129T>G | CA2499214490 | USH2A | c.9740-4A>C (n.9740-4A>C)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215799130C>A | CA2573131601 | USH2A | c.9740-5G>T (n.9740-5G>T)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215799130C= | CA1148479019 | USH2A | c.9740-5G= (n.9740-5G=)
| |
| 1 | g.215799130C>T | CA1394210 | USH2A | c.9740-5G>A (n.9740-5G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215799132A>G | CA2499214491 | USH2A | c.9740-7T>C (n.9740-7T>C)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215799134T>G | CA2574001340 | USH2A | c.9740-9A>C (n.9740-9A>C)
| ClinVar |
| 1 | g.215799134_215799135insAG | CA2747721866 | USH2A | c.9740-10_9740-9insCT (n.9740-10_9740-9insCT)
| |
| 1 | g.215799135T>C | CA2650503222 | USH2A | c.9740-10A>G (n.9740-10A>G)
| gnomAD v4 |
| 1 | g.215799136A= | CA1220426309 | USH2A | c.9740-11T= (n.9740-11T=)
| |
| 1 | g.215799136A>T | CA37448711 | USH2A | c.9740-11T>A (n.9740-11T>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215799137_215799139del | CA2747721867 | USH2A | c.9740-13_9740-11del (n.9740-13_9740-11del)
| |
| 1 | g.215799137_215799149del | CA2747721868 | USH2A | c.9740-24_9740-12del (n.9740-24_9740-12del)
| |
| 1 | g.215799138G>A | CA2650503223 | USH2A | c.9740-13C>T (n.9740-13C>T)
| gnomAD v4 |
| 1 | g.215799140C>A | CA1394211 | USH2A | c.9740-15G>T (n.9740-15G>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215799140C= | CA1220426310 | USH2A | c.9740-15G= (n.9740-15G=)
| |
| 1 | g.215799141A= | CA1220426313 | USH2A | c.9740-16T= (n.9740-16T=)
| |
| 1 | g.215799141A>C | CA2650503224 | USH2A | c.9740-16T>G (n.9740-16T>G)
| gnomAD v4 |
| 1 | g.215799141A>G | CA2650503225 | USH2A | c.9740-16T>C (n.9740-16T>C)
| gnomAD v4 |
| 1 | g.215799141A>T | CA529002277 | USH2A | c.9740-16T>A (n.9740-16T>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215799142del | CA2747721869 | USH2A | c.9740-16del (n.9740-16del)
| |
| 1 | g.215799142A>C | CA2573131602 | USH2A | c.9740-17T>G (n.9740-17T>G)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215799143T>C | CA2574001357 | USH2A | c.9740-18A>G (n.9740-18A>G)
| |
| 1 | g.215799143_215799149del | CA2747721870 | USH2A | c.9740-24_9740-18del (n.9740-24_9740-18del)
| |
| 1 | g.215799144A>G | CA2574001359 | USH2A | c.9740-19T>C (n.9740-19T>C)
| ClinVar gnomAD v4 |
| 1 | g.215799145dup | CA2650503226 | USH2A | c.9740-19dup (n.9740-19dup)
| gnomAD v4 |
| 1 | g.215799146T>C | CA1220426316 | USH2A | c.9740-21A>G (n.9740-21A>G)
| dbSNP |
| 1 | g.215799146T= | CA1220426315 | USH2A | c.9740-21A= (n.9740-21A=)
| |
| 1 | g.215799146_215799147insCATTTAGGACATA | CA2650503227 | USH2A | c.9740-22_9740-21insTATGTCCTAAATG (n.9740-22_9740-21insTATGTCCTAAATG)
| gnomAD v4 |
| 1 | g.215799147A>C | CA2506488973 | USH2A | c.9740-22T>G (n.9740-22T>G)
| |
| 1 | g.215799148A= | CA1220426318 | USH2A | c.9740-23T= (n.9740-23T=)
| |
| 1 | g.215799148A>T | CA1012196203 | USH2A | c.9740-23T>A (n.9740-23T>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215799149T>C | CA37448723 | USH2A | c.9740-24A>G (n.9740-24A>G)
| dbSNP |
| 1 | g.215799149T= | CA1220426319 | USH2A | c.9740-24A= (n.9740-24A=)
| |
| 1 | g.215799150C>A | CA1394212 | USH2A | c.9740-25G>T (n.9740-25G>T)
| dbSNP ExAC gnomAD v4 |
| 1 | g.215799150C= | CA1220426322 | USH2A | c.9740-25G= (n.9740-25G=)
| |
| 1 | g.215799150C>T | CA37448724 | USH2A | c.9740-25G>A (n.9740-25G>A)
| dbSNP |
| 1 | g.215799151A>G | CA2650503228 | USH2A | c.9740-26T>C (n.9740-26T>C)
| gnomAD v4 |
| 1 | g.215799152_215799154dup | CA529002278 | USH2A | c.9740-28_9740-26dup (n.9740-28_9740-26dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215799152T>C | CA1394213 | USH2A | c.9740-27A>G (n.9740-27A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215799152T>G | CA731366974 | USH2A | c.9740-27A>C (n.9740-27A>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215799152T= | CA1148403723 | USH2A | c.9740-27A= (n.9740-27A=)
| |
| 1 | g.215799153del | CA2747721871 | USH2A | c.9740-27del (n.9740-27del)
| |
| 1 | g.215799153T>C | CA1394214 | USH2A | c.9740-28A>G (n.9740-28A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215799153T= | CA1220426327 | USH2A | c.9740-28A= (n.9740-28A=)
| |
| 1 | g.215799154A= | CA1220426329 | USH2A | c.9740-29T= (n.9740-29T=)
| |
| 1 | g.215799154A>G | CA37448725 | USH2A | c.9740-29T>C (n.9740-29T>C)
| dbSNP gnomAD v4 |
| 1 | g.215799155C= | CA1220426331 | USH2A | c.9740-30G= (n.9740-30G=)
| |
| 1 | g.215799155C>T | CA1394215 | USH2A | c.9740-30G>A (n.9740-30G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215799156A= | CA1220426333 | USH2A | c.9740-31T= (n.9740-31T=)
| |
| 1 | g.215799156A>C | CA1012196213 | USH2A | c.9740-31T>G (n.9740-31T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215799156A>T | CA2650503229 | USH2A | c.9740-31T>A (n.9740-31T>A)
| gnomAD v4 |
| 1 | g.215799157T>A | CA2747721872 | USH2A | c.9740-32A>T (n.9740-32A>T)
| |
| 1 | g.215799157_215799158insA | CA2747721873 | USH2A | c.9740-33_9740-32insT (n.9740-33_9740-32insT)
| |
| 1 | g.215799157_215799158insACG | CA2747721874 | USH2A | c.9740-33_9740-32insCGT (n.9740-33_9740-32insCGT)
| |
| 1 | g.215799157_215799158insACTC | CA2747721875 | USH2A | c.9740-33_9740-32insGAGT (n.9740-33_9740-32insGAGT)
| |
| 1 | g.215799158C>A | CA2650503230 | USH2A | c.9740-33G>T (n.9740-33G>T)
| gnomAD v4 |
| 1 | g.215799158C= | CA1220426338 | USH2A | c.9740-33G= (n.9740-33G=)
| |
| 1 | g.215799158C>G | CA2565625277 | USH2A | c.9740-33G>C (n.9740-33G>C)
| |
| 1 | g.215799158C>T | CA1220426340 | USH2A | c.9740-33G>A (n.9740-33G>A)
| dbSNP |
| 1 | g.215799159A= | CA1220426341 | USH2A | c.9740-34T= (n.9740-34T=)
| |
| 1 | g.215799159A>C | CA1394216 | USH2A | c.9740-34T>G (n.9740-34T>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215799159A>G | CA1012196219 | USH2A | c.9740-34T>C (n.9740-34T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215799159A>T | CA2650503231 | USH2A | c.9740-34T>A (n.9740-34T>A)
| gnomAD v4 |
| 1 | g.215799161T>A | CA1394217 | USH2A | c.9740-36A>T (n.9740-36A>T)
| dbSNP ExAC gnomAD v4 |
| 1 | g.215799161T>C | CA1220426344 | USH2A | c.9740-36A>G (n.9740-36A>G)
| dbSNP |
| 1 | g.215799161T= | CA1220426345 | USH2A | c.9740-36A= (n.9740-36A=)
| |
| 1 | g.215799161_215799162insAGAC | CA2747721876 | USH2A | c.9740-37_9740-36insGTCT (n.9740-37_9740-36insGTCT)
| |
| 1 | g.215799162T>A | CA2650503232 | USH2A | c.9740-37A>T (n.9740-37A>T)
| gnomAD v4 |
| 1 | g.215799162T>G | CA1394219 | USH2A | c.9740-37A>C (n.9740-37A>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215799162T= | CA1220426350 | USH2A | c.9740-37A= (n.9740-37A=)
| |
| 1 | g.215799162_215799163delinsTA | CA1220426348 | USH2A | c.9740-38_9740-37delinsTA (n.9740-38_9740-37delinsTA)
| |
| 1 | g.215799163A= | CA1220426354 | USH2A | c.9740-38T= (n.9740-38T=)
| |
| 1 | g.215799163A>T | CA1220426353 | USH2A | c.9740-38T>A (n.9740-38T>A)
| dbSNP gnomAD v4 |
| 1 | g.215799163_215799169delinsAAAAAAA | CA1147546682 | USH2A | c.9740-44_9740-38delinsTTTTTTT (n.9740-44_9740-38delinsTTTTTTT)
| |
| 1 | g.215799169dup | CA1394220 | USH2A | c.9740-38dup (n.9740-38dup)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215799169del | CA1394218 | USH2A | c.9740-38del (n.9740-38del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
