| 1 | g.215798989C>A | CA344848968 | USH2A | c.9876G>T (p.Gln3292His)
| |
| 1 | g.215798989C= | CA1144082070 | USH2A | c.9876G= (p.Gln3292=)
| |
| 1 | g.215798989C>G | CA344848949 | USH2A | c.9876G>C (p.Gln3292His)
| |
| 1 | g.215798989C>T | CA1394191 | USH2A | c.9876G>A (p.Gln3292=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215798990T>A | CA344848977 | USH2A | c.9875A>T (p.Gln3292Leu)
| |
| 1 | g.215798990T>C | CA344848982 | USH2A | c.9875A>G (p.Gln3292Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215798990T>G | CA344848984 | USH2A | c.9875A>C (p.Gln3292Pro)
| |
| 1 | g.215798990T= | CA1220426080 | USH2A | c.9875A= (p.Gln3292=)
| |
| 1 | g.215798990_215799005del | CA2586968174 | USH2A | c.9860_9875del (p.His3287ArgfsTer9)
| |
| 1 | g.215798991G>A | CA344848988 | USH2A | c.9874C>T (p.Gln3292Ter)
| ClinVar dbSNP COSMIC COSMIC |
| 1 | g.215798991G>C | CA344848991 | USH2A | c.9874C>G (p.Gln3292Glu)
| |
| 1 | g.215798991G>T | CA344848994 | USH2A | c.9874C>A (p.Gln3292Lys)
| COSMIC COSMIC |
| 1 | g.215798991_215799005delinsGGCCATGGCCATCAT | CA1220426083 | USH2A | c.9860_9874delinsATGATGGCCATGGCC (p.His3287=)
| |
| 1 | g.215798992G>A | CA423430278 | USH2A | c.9873C>T (p.Gly3291=)
| |
| 1 | g.215798992G>C | CA423430279 | USH2A | c.9873C>G (p.Gly3291=)
| |
| 1 | g.215798992G>T | CA423430281 | USH2A | c.9873C>A (p.Gly3291=)
| gnomAD v4 |
| 1 | g.215798993_215799006del | CA529002310 | USH2A | c.9860_9873del (p.His3287ProfsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215798993C>A | CA344848997 | USH2A | c.9872G>T (p.Gly3291Val)
| |
| 1 | g.215798993C>G | CA344848998 | USH2A | c.9872G>C (p.Gly3291Ala)
| |
| 1 | g.215798993C>T | CA344848999 | USH2A | c.9872G>A (p.Gly3291Asp)
| |
| 1 | g.215798994C>A | CA344849002 | USH2A | c.9871G>T (p.Gly3291Cys)
| |
| 1 | g.215798994C= | CA1141623927 | USH2A | c.9871G= (p.Gly3291=)
| |
| 1 | g.215798994C>G | CA1394193 | USH2A | c.9871G>C (p.Gly3291Arg)
| dbSNP ExAC gnomAD v2 |
| 1 | g.215798994C>T | CA1394192 | USH2A | c.9871G>A (p.Gly3291Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215798995A= | CA1220426097 | USH2A | c.9870T= (p.His3290=)
| |
| 1 | g.215798995A>C | CA344849020 | USH2A | c.9870T>G (p.His3290Gln)
| |
| 1 | g.215798995A>G | CA1394194 | USH2A | c.9870T>C (p.His3290=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215798995A>T | CA344849014 | USH2A | c.9870T>A (p.His3290Gln)
| |
| 1 | g.215798996T>A | CA344849023 | USH2A | c.9869A>T (p.His3290Leu)
| |
| 1 | g.215798996T>C | CA344849026 | USH2A | c.9869A>G (p.His3290Arg)
| |
| 1 | g.215798996T>G | CA344849028 | USH2A | c.9869A>C (p.His3290Pro)
| |
| 1 | g.215798997G>A | CA344849036 | USH2A | c.9868C>T (p.His3290Tyr)
| dbSNP |
| 1 | g.215798997G>C | CA344849038 | USH2A | c.9868C>G (p.His3290Asp)
| COSMIC COSMIC |
| 1 | g.215798997G= | CA1220426100 | USH2A | c.9868C= (p.His3290=)
| |
| 1 | g.215798997G>T | CA344849040 | USH2A | c.9868C>A (p.His3290Asn)
| |
| 1 | g.215798998G>A | CA1394195 | USH2A | c.9867C>T (p.Gly3289=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215798998G>C | CA423430287 | USH2A | c.9867C>G (p.Gly3289=)
| gnomAD v4 |
| 1 | g.215798998G= | CA1142077721 | USH2A | c.9867C= (p.Gly3289=)
| |
| 1 | g.215798998G>T | CA423430286 | USH2A | c.9867C>A (p.Gly3289=)
| COSMIC COSMIC |
| 1 | g.215798999C>A | CA344849054 | USH2A | c.9866G>T (p.Gly3289Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215798999C= | CA1220426109 | USH2A | c.9866G= (p.Gly3289=)
| |
| 1 | g.215798999C>G | CA344849047 | USH2A | c.9866G>C (p.Gly3289Ala)
| |
| 1 | g.215798999C>T | CA37448566 | USH2A | c.9866G>A (p.Gly3289Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215799000C>A | CA344849057 | USH2A | c.9865G>T (p.Gly3289Cys)
| |
| 1 | g.215799000C>G | CA344849059 | USH2A | c.9865G>C (p.Gly3289Arg)
| |
| 1 | g.215799000C>T | CA344849062 | USH2A | c.9865G>A (p.Gly3289Ser)
| gnomAD v4 |
| 1 | g.215799001A= | CA1220426113 | USH2A | c.9864T= (p.Asp3288=)
| |
| 1 | g.215799001A>C | CA344849069 | USH2A | c.9864T>G (p.Asp3288Glu)
| |
| 1 | g.215799001A>G | CA423430291 | USH2A | c.9864T>C (p.Asp3288=)
| |
| 1 | g.215799001A>T | CA344849070 | USH2A | c.9864T>A (p.Asp3288Glu)
| dbSNP gnomAD v4 |
| 1 | g.215799002T>A | CA344849071 | USH2A | c.9863A>T (p.Asp3288Val)
| |
| 1 | g.215799002T>C | CA344849080 | USH2A | c.9863A>G (p.Asp3288Gly)
| |
| 1 | g.215799002T>G | CA344849075 | USH2A | c.9863A>C (p.Asp3288Ala)
| |
| 1 | g.215799003C>A | CA344849085 | USH2A | c.9862G>T (p.Asp3288Tyr)
| dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.215799003C= | CA1220426118 | USH2A | c.9862G= (p.Asp3288=)
| |
| 1 | g.215799003C>G | CA344849089 | USH2A | c.9862G>C (p.Asp3288His)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215799003C>T | CA344849090 | USH2A | c.9862G>A (p.Asp3288Asn)
| COSMIC COSMIC |
| 1 | g.215799004A>C | CA344849091 | USH2A | c.9861T>G (p.His3287Gln)
| |
| 1 | g.215799004A>G | CA423430294 | USH2A | c.9861T>C (p.His3287=)
| ClinVar dbSNP |
| 1 | g.215799004A>T | CA344849093 | USH2A | c.9861T>A (p.His3287Gln)
| |
| 1 | g.215799005T>A | CA344849094 | USH2A | c.9860A>T (p.His3287Leu)
| |
| 1 | g.215799005T>C | CA344849096 | USH2A | c.9860A>G (p.His3287Arg)
| |
| 1 | g.215799005T>G | CA344849100 | USH2A | c.9860A>C (p.His3287Pro)
| gnomAD v4 |
| 1 | g.215799006G>A | CA344849104 | USH2A | c.9859C>T (p.His3287Tyr)
| gnomAD v4 |
| 1 | g.215799006G>C | CA344849106 | USH2A | c.9859C>G (p.His3287Asp)
| |
| 1 | g.215799006G>T | CA344849109 | USH2A | c.9859C>A (p.His3287Asn)
| |
| 1 | g.215799007A>C | CA423430297 | USH2A | c.9858T>G (p.Leu3286=)
| ClinVar |
| 1 | g.215799007A>G | CA423430299 | USH2A | c.9858T>C (p.Leu3286=)
| |
| 1 | g.215799007A>T | CA423430300 | USH2A | c.9858T>A (p.Leu3286=)
| |
| 1 | g.215799008A>C | CA344849110 | USH2A | c.9857T>G (p.Leu3286Arg)
| |
| 1 | g.215799008A>G | CA344849114 | USH2A | c.9857T>C (p.Leu3286Pro)
| ClinVar dbSNP |
| 1 | g.215799008A>T | CA344849111 | USH2A | c.9857T>A (p.Leu3286His)
| |
| 1 | g.215799009G>A | CA344849120 | USH2A | c.9856C>T (p.Leu3286Phe)
| |
| 1 | g.215799009G>C | CA344849124 | USH2A | c.9856C>G (p.Leu3286Val)
| |
| 1 | g.215799009G>T | CA344849127 | USH2A | c.9856C>A (p.Leu3286Ile)
| |
| 1 | g.215799010C>A | CA344849129 | USH2A | c.9855G>T (p.Arg3285Ser)
| |
| 1 | g.215799010C>G | CA344849131 | USH2A | c.9855G>C (p.Arg3285Ser)
| |
| 1 | g.215799010C>T | CA423430302 | USH2A | c.9855G>A (p.Arg3285=)
| |
| 1 | g.215799011del | CA2586968177 | USH2A | c.9855del (p.Arg3285SerfsTer16)
| |
| 1 | g.215799011C>A | CA344849134 | USH2A | c.9854G>T (p.Arg3285Met)
| |
| 1 | g.215799011C>G | CA344849138 | USH2A | c.9854G>C (p.Arg3285Thr)
| |
| 1 | g.215799011C>T | CA344849140 | USH2A | c.9854G>A (p.Arg3285Lys)
| |
| 1 | g.215799012T>A | CA344849143 | USH2A | c.9853A>T (p.Arg3285Trp)
| |
| 1 | g.215799012T>C | CA344849145 | USH2A | c.9853A>G (p.Arg3285Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215799012T>G | CA423430305 | USH2A | c.9853A>C (p.Arg3285=)
| gnomAD v4 |
| 1 | g.215799012T= | CA1220426124 | USH2A | c.9853A= (p.Arg3285=)
| |
| 1 | g.215799013C>A | CA423430307 | USH2A | c.9852G>T (p.Gly3284=)
| |
| 1 | g.215799013C>G | CA423430308 | USH2A | c.9852G>C (p.Gly3284=)
| |
| 1 | g.215799013C>T | CA423430309 | USH2A | c.9852G>A (p.Gly3284=)
| |
| 1 | g.215799015del | CA2586968178 | USH2A | c.9852del (p.Arg3285GlyfsTer16)
| |
| 1 | g.215799014C>A | CA344849149 | USH2A | c.9851G>T (p.Gly3284Val)
| |
| 1 | g.215799014C= | CA1220426127 | USH2A | c.9851G= (p.Gly3284=)
| |
| 1 | g.215799014C>G | CA344849151 | USH2A | c.9851G>C (p.Gly3284Ala)
| |
| 1 | g.215799014C>T | CA37448574 | USH2A | c.9851G>A (p.Gly3284Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215799015C>A | CA344849163 | USH2A | c.9850G>T (p.Gly3284Trp)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215799015C= | CA1220426131 | USH2A | c.9850G= (p.Gly3284=)
| |
| 1 | g.215799015C>G | CA344849177 | USH2A | c.9850G>C (p.Gly3284Arg)
| dbSNP |
| 1 | g.215799015C>T | CA344849174 | USH2A | c.9850G>A (p.Gly3284Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215799016A>C | CA423430312 | USH2A | c.9849T>G (p.Ala3283=)
| |
| 1 | g.215799016A>G | CA423430313 | USH2A | c.9849T>C (p.Ala3283=)
| |
| 1 | g.215799016A>T | CA423430314 | USH2A | c.9849T>A (p.Ala3283=)
| |
| 1 | g.215799017G>A | CA344849182 | USH2A | c.9848C>T (p.Ala3283Val)
| dbSNP |
| 1 | g.215799017G>C | CA344849185 | USH2A | c.9848C>G (p.Ala3283Gly)
| |
| 1 | g.215799017G= | CA1220426134 | USH2A | c.9848C= (p.Ala3283=)
| |
| 1 | g.215799017G>T | CA344849192 | USH2A | c.9848C>A (p.Ala3283Asp)
| |
| 1 | g.215799018C>A | CA1394196 | USH2A | c.9847G>T (p.Ala3283Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215799018C= | CA1220426138 | USH2A | c.9847G= (p.Ala3283=)
| |
| 1 | g.215799018C>G | CA344849198 | USH2A | c.9847G>C (p.Ala3283Pro)
| |
| 1 | g.215799018C>T | CA344849202 | USH2A | c.9847G>A (p.Ala3283Thr)
| |
| 1 | g.215799019A>C | CA344849205 | USH2A | c.9846T>G (p.Cys3282Trp)
| |
| 1 | g.215799019A>G | CA423430318 | USH2A | c.9846T>C (p.Cys3282=)
| COSMIC |
| 1 | g.215799019A>T | CA344849206 | USH2A | c.9846T>A (p.Cys3282Ter)
| ClinVar |
| 1 | g.215799020C>A | CA344849207 | USH2A | c.9845G>T (p.Cys3282Phe)
| |
| 1 | g.215799020C>G | CA344849210 | USH2A | c.9845G>C (p.Cys3282Ser)
| |
| 1 | g.215799020C>T | CA344849212 | USH2A | c.9845G>A (p.Cys3282Tyr)
| |
| 1 | g.215799021A>C | CA344849228 | USH2A | c.9844T>G (p.Cys3282Gly)
| |
| 1 | g.215799021A>G | CA344849222 | USH2A | c.9844T>C (p.Cys3282Arg)
| |
| 1 | g.215799021A>T | CA344849217 | USH2A | c.9844T>A (p.Cys3282Ser)
| |
| 1 | g.215799022G>A | CA423430320 | USH2A | c.9843C>T (p.Cys3281=)
| |
| 1 | g.215799022G>C | CA344849241 | USH2A | c.9843C>G (p.Cys3281Trp)
| |
| 1 | g.215799022G>T | CA344849232 | USH2A | c.9843C>A (p.Cys3281Ter)
| |
| 1 | g.215799023C>A | CA183787 | USH2A | c.9842G>T (p.Cys3281Phe)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215799023C= | CA1148224976 | USH2A | c.9842G= (p.Cys3281=)
| |
| 1 | g.215799023C>G | CA344849247 | USH2A | c.9842G>C (p.Cys3281Ser)
| |
| 1 | g.215799023C>T | CA344849269 | USH2A | c.9842G>A (p.Cys3281Tyr)
| |
| 1 | g.215799024A>C | CA344849274 | USH2A | c.9841T>G (p.Cys3281Gly)
| |
| 1 | g.215799024A>G | CA344849280 | USH2A | c.9841T>C (p.Cys3281Arg)
| |
| 1 | g.215799024A>T | CA344849284 | USH2A | c.9841T>A (p.Cys3281Ser)
| |
| 1 | g.215799025A>C | CA344849289 | USH2A | c.9840T>G (p.Ile3280Met)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215799025A>G | CA423430323 | USH2A | c.9840T>C (p.Ile3280=)
| |
| 1 | g.215799025A>T | CA423430324 | USH2A | c.9840T>A (p.Ile3280=)
| |
| 1 | g.215799026A>C | CA344849294 | USH2A | c.9839T>G (p.Ile3280Ser)
| |
| 1 | g.215799026A>G | CA344849299 | USH2A | c.9839T>C (p.Ile3280Thr)
| |
| 1 | g.215799026A>T | CA344849303 | USH2A | c.9839T>A (p.Ile3280Asn)
| |
| 1 | g.215799027T>A | CA344849307 | USH2A | c.9838A>T (p.Ile3280Phe)
| |
| 1 | g.215799027T>C | CA344849315 | USH2A | c.9838A>G (p.Ile3280Val)
| |
| 1 | g.215799027T>G | CA344849319 | USH2A | c.9838A>C (p.Ile3280Leu)
| |
| 1 | g.215799028C>A | CA344849324 | USH2A | c.9837G>T (p.Gln3279His)
| |
| 1 | g.215799028C>G | CA344849327 | USH2A | c.9837G>C (p.Gln3279His)
| |
| 1 | g.215799028C>T | CA423430327 | USH2A | c.9837G>A (p.Gln3279=)
| |
| 1 | g.215799029T>A | CA344849348 | USH2A | c.9836A>T (p.Gln3279Leu)
| |
| 1 | g.215799029T>C | CA344849339 | USH2A | c.9836A>G (p.Gln3279Arg)
| dbSNP |
| 1 | g.215799029T>G | CA344849342 | USH2A | c.9836A>C (p.Gln3279Pro)
| |
| 1 | g.215799029T= | CA1220426144 | USH2A | c.9836A= (p.Gln3279=)
| |
| 1 | g.215799030G>A | CA344849352 | USH2A | c.9835C>T (p.Gln3279Ter)
| |
| 1 | g.215799030G>C | CA344849355 | USH2A | c.9835C>G (p.Gln3279Glu)
| |
| 1 | g.215799030G>T | CA344849359 | USH2A | c.9835C>A (p.Gln3279Lys)
| gnomAD v4 |
| 1 | g.215799031G>A | CA423430329 | USH2A | c.9834C>T (p.Asn3278=)
| dbSNP |
| 1 | g.215799031G>C | CA344849363 | USH2A | c.9834C>G (p.Asn3278Lys)
| |
| 1 | g.215799031G= | CA1220426153 | USH2A | c.9834C= (p.Asn3278=)
| |
| 1 | g.215799031G>T | CA37448586 | USH2A | c.9834C>A (p.Asn3278Lys)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215799032T>A | CA344849370 | USH2A | c.9833A>T (p.Asn3278Ile)
| |
| 1 | g.215799032T>C | CA344849371 | USH2A | c.9833A>G (p.Asn3278Ser)
| gnomAD v4 |
| 1 | g.215799032T>G | CA344849373 | USH2A | c.9833A>C (p.Asn3278Thr)
| |
| 1 | g.215799034del | CA2739275631 | USH2A | c.9833del (p.Asn3278ThrfsTer23)
| ClinVar |
| 1 | g.215799033T>A | CA344849375 | USH2A | c.9832A>T (p.Asn3278Tyr)
| |
| 1 | g.215799033T>C | CA344849377 | USH2A | c.9832A>G (p.Asn3278Asp)
| |
| 1 | g.215799033T>G | CA344849378 | USH2A | c.9832A>C (p.Asn3278His)
| |
| 1 | g.215799034T>A | CA423430334 | USH2A | c.9831A>T (p.Gly3277=)
| |
| 1 | g.215799034T>C | CA423430333 | USH2A | c.9831A>G (p.Gly3277=)
| |
| 1 | g.215799034T>G | CA423430332 | USH2A | c.9831A>C (p.Gly3277=)
| |
| 1 | g.215799035C>A | CA344849394 | USH2A | c.9830G>T (p.Gly3277Val)
| |
| 1 | g.215799035C>G | CA344849395 | USH2A | c.9830G>C (p.Gly3277Ala)
| |
| 1 | g.215799035C>T | CA344849392 | USH2A | c.9830G>A (p.Gly3277Glu)
| |
| 1 | g.215799036C>A | CA344849396 | USH2A | c.9829G>T (p.Gly3277Ter)
| |
| 1 | g.215799036C= | CA1220426157 | USH2A | c.9829G= (p.Gly3277=)
| |
| 1 | g.215799036C>G | CA344849397 | USH2A | c.9829G>C (p.Gly3277Arg)
| |
| 1 | g.215799036C>T | CA1394197 | USH2A | c.9829G>A (p.Gly3277Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215799037T>A | CA423430336 | USH2A | c.9828A>T (p.Ser3276=)
| |
| 1 | g.215799037T>C | CA423430337 | USH2A | c.9828A>G (p.Ser3276=)
| |
| 1 | g.215799037T>G | CA423430338 | USH2A | c.9828A>C (p.Ser3276=)
| |
| 1 | g.215799038G>A | CA344849412 | USH2A | c.9827C>T (p.Ser3276Leu)
| |
| 1 | g.215799038G>C | CA279037 | USH2A | c.9827C>G (p.Ser3276Ter)
| ClinVar dbSNP |
| 1 | g.215799038G= | CA1220426164 | USH2A | c.9827C= (p.Ser3276=)
| |
| 1 | g.215799038G>T | CA344849421 | USH2A | c.9827C>A (p.Ser3276Ter)
| ClinVar dbSNP |
| 1 | g.215799039A>C | CA344849425 | USH2A | c.9826T>G (p.Ser3276Ala)
| |
| 1 | g.215799039A>G | CA344849429 | USH2A | c.9826T>C (p.Ser3276Pro)
| |
| 1 | g.215799039A>T | CA344849430 | USH2A | c.9826T>A (p.Ser3276Thr)
| |
| 1 | g.215799040G>A | CA423430342 | USH2A | c.9825C>T (p.Thr3275=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215799040G>C | CA423430343 | USH2A | c.9825C>G (p.Thr3275=)
| |
| 1 | g.215799040G= | CA1220426168 | USH2A | c.9825C= (p.Thr3275=)
| |
| 1 | g.215799040G>T | CA423430344 | USH2A | c.9825C>A (p.Thr3275=)
| |
| 1 | g.215799041G>A | CA344849431 | USH2A | c.9824C>T (p.Thr3275Ile)
| |
| 1 | g.215799041G>C | CA344849432 | USH2A | c.9824C>G (p.Thr3275Ser)
| |
| 1 | g.215799041G>T | CA344849435 | USH2A | c.9824C>A (p.Thr3275Asn)
| |
| 1 | g.215799042T>A | CA344849440 | USH2A | c.9823A>T (p.Thr3275Ser)
| dbSNP |
| 1 | g.215799042T>C | CA344849444 | USH2A | c.9823A>G (p.Thr3275Ala)
| |
| 1 | g.215799042T>G | CA344849438 | USH2A | c.9823A>C (p.Thr3275Pro)
| |
| 1 | g.215799042T= | CA1220426171 | USH2A | c.9823A= (p.Thr3275=)
| |
| 1 | g.215799043G>A | CA423430352 | USH2A | c.9822C>T (p.Ser3274=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215799043G>C | CA423430353 | USH2A | c.9822C>G (p.Ser3274=)
| |
| 1 | g.215799043G= | CA1220426174 | USH2A | c.9822C= (p.Ser3274=)
| |
| 1 | g.215799043G>T | CA423430354 | USH2A | c.9822C>A (p.Ser3274=)
| dbSNP |
| 1 | g.215799044G>A | CA344849450 | USH2A | c.9821C>T (p.Ser3274Phe)
| |
| 1 | g.215799044G>C | CA344849453 | USH2A | c.9821C>G (p.Ser3274Cys)
| |
| 1 | g.215799044G>T | CA344849456 | USH2A | c.9821C>A (p.Ser3274Tyr)
| COSMIC COSMIC |
| 1 | g.215799045A= | CA1220426180 | USH2A | c.9820T= (p.Ser3274=)
| |
| 1 | g.215799045A>C | CA344849463 | USH2A | c.9820T>G (p.Ser3274Ala)
| |
| 1 | g.215799045A>G | CA344849469 | USH2A | c.9820T>C (p.Ser3274Pro)
| |
| 1 | g.215799045A>T | CA344849471 | USH2A | c.9820T>A (p.Ser3274Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215799046G>A | CA423430355 | USH2A | c.9819C>T (p.Tyr3273=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215799046G>C | CA344849484 | USH2A | c.9819C>G (p.Tyr3273Ter)
| |
| 1 | g.215799046G= | CA1220426184 | USH2A | c.9819C= (p.Tyr3273=)
| |
| 1 | g.215799046G>T | CA344849488 | USH2A | c.9819C>A (p.Tyr3273Ter)
| |
| 1 | g.215799047_215799051del | CA2650503220 | USH2A | c.9815_9819del (p.Pro3272LeufsTer15)
| gnomAD v4 |
| 1 | g.215799047T>A | CA344849496 | USH2A | c.9818A>T (p.Tyr3273Phe)
| |
| 1 | g.215799047T>C | CA344849498 | USH2A | c.9818A>G (p.Tyr3273Cys)
| COSMIC COSMIC |
| 1 | g.215799047T>G | CA344849501 | USH2A | c.9818A>C (p.Tyr3273Ser)
| dbSNP |
| 1 | g.215799047T= | CA1220426185 | USH2A | c.9818A= (p.Tyr3273=)
| |
| 1 | g.215799048A= | CA1220426187 | USH2A | c.9817T= (p.Tyr3273=)
| |
| 1 | g.215799048A>C | CA344849504 | USH2A | c.9817T>G (p.Tyr3273Asp)
| |
| 1 | g.215799048A>G | CA344849509 | USH2A | c.9817T>C (p.Tyr3273His)
| dbSNP |
| 1 | g.215799048A>T | CA344849519 | USH2A | c.9817T>A (p.Tyr3273Asn)
| |
| 1 | g.215799049C>A | CA423430357 | USH2A | c.9816G>T (p.Pro3272=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215799049C= | CA1148245711 | USH2A | c.9816G= (p.Pro3272=)
| |
| 1 | g.215799049C>G | CA423430356 | USH2A | c.9816G>C (p.Pro3272=)
| |
| 1 | g.215799049C>T | CA1394198 | USH2A | c.9816G>A (p.Pro3272=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215799050G>A | CA1394199 | USH2A | c.9815C>T (p.Pro3272Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215799050G>C | CA344849526 | USH2A | c.9815C>G (p.Pro3272Arg)
| |
| 1 | g.215799050G= | CA1220426198 | USH2A | c.9815C= (p.Pro3272=)
| |
| 1 | g.215799050G>T | CA344849531 | USH2A | c.9815C>A (p.Pro3272Gln)
| COSMIC COSMIC |
| 1 | g.215799051G>A | CA344849536 | USH2A | c.9814C>T (p.Pro3272Ser)
| ClinVar dbSNP gnomAD v2 |
| 1 | g.215799051G>C | CA344849540 | USH2A | c.9814C>G (p.Pro3272Ala)
| dbSNP gnomAD v4 |
| 1 | g.215799051G= | CA1220426202 | USH2A | c.9814C= (p.Pro3272=)
| |
| 1 | g.215799051G>T | CA344849551 | USH2A | c.9814C>A (p.Pro3272Thr)
| |
| 1 | g.215799052C>A | CA344849553 | USH2A | c.9813G>T (p.Met3271Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215799052C= | CA1141582254 | USH2A | c.9813G= (p.Met3271=)
| |
| 1 | g.215799052C>G | CA344849555 | USH2A | c.9813G>C (p.Met3271Ile)
| |
| 1 | g.215799052C>T | CA1394200 | USH2A | c.9813G>A (p.Met3271Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215799053A>C | CA344849564 | USH2A | c.9812T>G (p.Met3271Arg)
| |
| 1 | g.215799053A>G | CA344849565 | USH2A | c.9812T>C (p.Met3271Thr)
| |
| 1 | g.215799053A>T | CA344849567 | USH2A | c.9812T>A (p.Met3271Lys)
| |
| 1 | g.215799053_215799054delinsAT | CA1220426207 | USH2A | c.9811_9812delinsAT (p.Met3271=)
| |
| 1 | g.215799054T>A | CA344849573 | USH2A | c.9811A>T (p.Met3271Leu)
| |
| 1 | g.215799054T>C | CA344849576 | USH2A | c.9811A>G (p.Met3271Val)
| gnomAD v4 |
| 1 | g.215799054T>G | CA344849579 | USH2A | c.9811A>C (p.Met3271Leu)
| dbSNP |
| 1 | g.215799054T= | CA1220426209 | USH2A | c.9811A= (p.Met3271=)
| |
| 1 | g.215799055del | CA1394201 | USH2A | c.9811del (p.Met3271CysfsTer30)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215799055T>A | CA344849589 | USH2A | c.9810A>T (p.Arg3270Ser)
| |
| 1 | g.215799055T>C | CA423430358 | USH2A | c.9810A>G (p.Arg3270=)
| |
| 1 | g.215799055T>G | CA344849592 | USH2A | c.9810A>C (p.Arg3270Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215799055T= | CA1220426212 | USH2A | c.9810A= (p.Arg3270=)
| |
| 1 | g.215799056C>A | CA344849593 | USH2A | c.9809G>T (p.Arg3270Ile)
| |
| 1 | g.215799056C= | CA1220426213 | USH2A | c.9809G= (p.Arg3270=)
| |
| 1 | g.215799056C>G | CA37448600 | USH2A | c.9809G>C (p.Arg3270Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215799056C>T | CA344849594 | USH2A | c.9809G>A (p.Arg3270Lys)
| COSMIC COSMIC |
| 1 | g.215799056_215799077delinsCTGCCACAGCAGGAATCACCAA | CA1220426216 | USH2A | c.9788_9809delinsTTGGTGATTCCTGCTGTGGCAG (p.Ile3263=)
| |
| 1 | g.215799057T>A | CA344849597 | USH2A | c.9808A>T (p.Arg3270Ter)
| |
| 1 | g.215799057T>C | CA344849601 | USH2A | c.9808A>G (p.Arg3270Gly)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215799057T>G | CA423430359 | USH2A | c.9808A>C (p.Arg3270=)
| |
| 1 | g.215799057T= | CA1220426221 | USH2A | c.9808A= (p.Arg3270=)
| |
| 1 | g.215799062_215799082del | CA529002276 | USH2A | c.9788_9808del (p.Ile3263_Gly3269del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215799058G>A | CA423430360 | USH2A | c.9807C>T (p.Gly3269=)
| gnomAD v4 |
| 1 | g.215799058G>C | CA423430361 | USH2A | c.9807C>G (p.Gly3269=)
| |
| 1 | g.215799058G>T | CA423430362 | USH2A | c.9807C>A (p.Gly3269=)
| |
| 1 | g.215799059C>A | CA344849606 | USH2A | c.9806G>T (p.Gly3269Val)
| |
| 1 | g.215799059C= | CA1220426225 | USH2A | c.9806G= (p.Gly3269=)
| |
| 1 | g.215799059C>G | CA344849610 | USH2A | c.9806G>C (p.Gly3269Ala)
| |
| 1 | g.215799059C>T | CA1394202 | USH2A | c.9806G>A (p.Gly3269Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215799060C>A | CA344849623 | USH2A | c.9805G>T (p.Gly3269Cys)
| |
| 1 | g.215799060C>G | CA344849625 | USH2A | c.9805G>C (p.Gly3269Arg)
| |
| 1 | g.215799060C>T | CA344849630 | USH2A | c.9805G>A (p.Gly3269Ser)
| |
| 1 | g.215799061A>C | CA344849644 | USH2A | c.9804T>G (p.Cys3268Trp)
| |
| 1 | g.215799061A>G | CA423430363 | USH2A | c.9804T>C (p.Cys3268=)
| ClinVar |
| 1 | g.215799061A>T | CA344849649 | USH2A | c.9804T>A (p.Cys3268Ter)
| |
| 1 | g.215799062C>A | CA344849656 | USH2A | c.9803G>T (p.Cys3268Phe)
| |
| 1 | g.215799062C= | CA1220426227 | USH2A | c.9803G= (p.Cys3268=)
| |
| 1 | g.215799062C>G | CA344849662 | USH2A | c.9803G>C (p.Cys3268Ser)
| |
| 1 | g.215799062C>T | CA344849659 | USH2A | c.9803G>A (p.Cys3268Tyr)
| ClinVar dbSNP |
| 1 | g.215799063A= | CA1220426229 | USH2A | c.9802T= (p.Cys3268=)
| |
| 1 | g.215799063A>C | CA344849667 | USH2A | c.9802T>G (p.Cys3268Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215799063A>G | CA344849669 | USH2A | c.9802T>C (p.Cys3268Arg)
| |
| 1 | g.215799063A>T | CA344849673 | USH2A | c.9802T>A (p.Cys3268Ser)
| |
| 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)
| |
