| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.215673953_215675415del | CA1139656543 | USH2A | c.12497_13811+148del | ClinVar |
| 1 | g.215675247T>A | CA344850045 | USH2A | c.12664A>T (p.Thr4222Ser) | |
| 1 | g.215675247T>C | CA344850046 | USH2A | c.12664A>G (p.Thr4222Ala) | |
| 1 | g.215675247T>G | CA344850047 | USH2A | c.12664A>C (p.Thr4222Pro) | |
| 1 | g.215675248A>C | CA344850048 | USH2A | c.12663T>G (p.Asn4221Lys) | |
| 1 | g.215675248A>G | CA423428178 | USH2A | c.12663T>C (p.Asn4221=) | ClinVar dbSNP |
| 1 | g.215675248A>T | CA344850049 | USH2A | c.12663T>A (p.Asn4221Lys) | |
| 1 | g.215675249T>A | CA344850051 | USH2A | c.12662A>T (p.Asn4221Ile) | dbSNP |
| 1 | g.215675249T>C | CA1393428 | USH2A | c.12662A>G (p.Asn4221Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675249T>G | CA344850065 | USH2A | c.12662A>C (p.Asn4221Thr) | |
| 1 | g.215675249T= | CA1220373864 | USH2A | c.12662A= (p.Asn4221=) | |
| 1 | g.215675250T>A | CA344850069 | USH2A | c.12661A>T (p.Asn4221Tyr) | |
| 1 | g.215675250T>C | CA344850074 | USH2A | c.12661A>G (p.Asn4221Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675250T>G | CA344850072 | USH2A | c.12661A>C (p.Asn4221His) | |
| 1 | g.215675250T= | CA1220373865 | USH2A | c.12661A= (p.Asn4221=) | |
| 1 | g.215675251C>A | CA344850077 | USH2A | c.12660G>T (p.Arg4220Ser) | |
| 1 | g.215675251C= | CA1220373866 | USH2A | c.12660G= (p.Arg4220=) | |
| 1 | g.215675251C>G | CA344850084 | USH2A | c.12660G>C (p.Arg4220Ser) | |
| 1 | g.215675251C>T | CA1393429 | USH2A | c.12660G>A (p.Arg4220=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215675252C>A | CA344850091 | USH2A | c.12659G>T (p.Arg4220Met) | |
| 1 | g.215675252C>G | CA344850094 | USH2A | c.12659G>C (p.Arg4220Thr) | |
| 1 | g.215675252C>T | CA344850098 | USH2A | c.12659G>A (p.Arg4220Lys) | |
| 1 | g.215675253T>A | CA344850102 | USH2A | c.12658A>T (p.Arg4220Trp) | |
| 1 | g.215675253T>C | CA344850104 | USH2A | c.12658A>G (p.Arg4220Gly) | |
| 1 | g.215675253T>G | CA423428186 | USH2A | c.12658A>C (p.Arg4220=) | |
| 1 | g.215675254T>A | CA344850114 | USH2A | c.12657A>T (p.Glu4219Asp) | |
| 1 | g.215675254T>C | CA423428189 | USH2A | c.12657A>G (p.Glu4219=) | |
| 1 | g.215675254T>G | CA344850118 | USH2A | c.12657A>C (p.Glu4219Asp) | |
| 1 | g.215675255T>A | CA344850121 | USH2A | c.12656A>T (p.Glu4219Val) | |
| 1 | g.215675255T>C | CA344850138 | USH2A | c.12656A>G (p.Glu4219Gly) | |
| 1 | g.215675255T>G | CA344850141 | USH2A | c.12656A>C (p.Glu4219Ala) | ClinVar dbSNP |
| 1 | g.215675255T= | CA1220373867 | USH2A | c.12656A= (p.Glu4219=) | |
| 1 | g.215675256C>A | CA344850146 | USH2A | c.12655G>T (p.Glu4219Ter) | |
| 1 | g.215675256C>G | CA344850144 | USH2A | c.12655G>C (p.Glu4219Gln) | COSMIC COSMIC |
| 1 | g.215675256C>T | CA344850145 | USH2A | c.12655G>A (p.Glu4219Lys) | |
| 1 | g.215675257A>C | CA423428193 | USH2A | c.12654T>G (p.Thr4218=) | ClinVar |
| 1 | g.215675257A>G | CA423428195 | USH2A | c.12654T>C (p.Thr4218=) | ClinVar |
| 1 | g.215675257A>T | CA423428194 | USH2A | c.12654T>A (p.Thr4218=) | |
| 1 | g.215675258G>A | CA344850147 | USH2A | c.12653C>T (p.Thr4218Ile) | ClinVar dbSNP |
| 1 | g.215675258G>C | CA344850148 | USH2A | c.12653C>G (p.Thr4218Ser) | |
| 1 | g.215675258G>T | CA344850151 | USH2A | c.12653C>A (p.Thr4218Asn) | |
| 1 | g.215675259T>A | CA344850153 | USH2A | c.12652A>T (p.Thr4218Ser) | |
| 1 | g.215675259T>C | CA344850154 | USH2A | c.12652A>G (p.Thr4218Ala) | |
| 1 | g.215675259T>G | CA344850157 | USH2A | c.12652A>C (p.Thr4218Pro) | |
| 1 | g.215675260G>A | CA423428200 | USH2A | c.12651C>T (p.Asn4217=) | gnomAD v4 COSMIC COSMIC |
| 1 | g.215675260G>C | CA344850160 | USH2A | c.12651C>G (p.Asn4217Lys) | |
| 1 | g.215675260G= | CA1220373868 | USH2A | c.12651C= (p.Asn4217=) | |
| 1 | g.215675260G>T | CA1393430 | USH2A | c.12651C>A (p.Asn4217Lys) | dbSNP ExAC gnomAD v2 |
| 1 | g.215675261T>A | CA344850166 | USH2A | c.12650A>T (p.Asn4217Ile) | |
| 1 | g.215675261T>C | CA344850170 | USH2A | c.12650A>G (p.Asn4217Ser) | |
| 1 | g.215675261T>G | CA1393431 | USH2A | c.12650A>C (p.Asn4217Thr) | dbSNP ExAC gnomAD v2 |
| 1 | g.215675261T= | CA1220373869 | USH2A | c.12650A= (p.Asn4217=) | |
| 1 | g.215675262T>A | CA344850193 | USH2A | c.12649A>T (p.Asn4217Tyr) | |
| 1 | g.215675262T>C | CA344850181 | USH2A | c.12649A>G (p.Asn4217Asp) | |
| 1 | g.215675262T>G | CA344850177 | USH2A | c.12649A>C (p.Asn4217His) | |
| 1 | g.215675263A>C | CA344850197 | USH2A | c.12648T>G (p.Tyr4216Ter) | |
| 1 | g.215675263A>G | CA423428209 | USH2A | c.12648T>C (p.Tyr4216=) | |
| 1 | g.215675263A>T | CA344850199 | USH2A | c.12648T>A (p.Tyr4216Ter) | |
| 1 | g.215675264T>A | CA344850203 | USH2A | c.12647A>T (p.Tyr4216Phe) | |
| 1 | g.215675264T>C | CA1393432 | USH2A | c.12647A>G (p.Tyr4216Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675264T>G | CA344850207 | USH2A | c.12647A>C (p.Tyr4216Ser) | |
| 1 | g.215675264T= | CA1220373870 | USH2A | c.12647A= (p.Tyr4216=) | |
| 1 | g.215675265A>C | CA344850209 | USH2A | c.12646T>G (p.Tyr4216Asp) | |
| 1 | g.215675265A>G | CA344850212 | USH2A | c.12646T>C (p.Tyr4216His) | |
| 1 | g.215675265A>T | CA344850218 | USH2A | c.12646T>A (p.Tyr4216Asn) | |
| 1 | g.215675266T>A | CA344850221 | USH2A | c.12645A>T (p.Glu4215Asp) | |
| 1 | g.215675266T>C | CA423428354 | USH2A | c.12645A>G (p.Glu4215=) | |
| 1 | g.215675266T>G | CA344850223 | USH2A | c.12645A>C (p.Glu4215Asp) | |
| 1 | g.215675267T>A | CA344850228 | USH2A | c.12644A>T (p.Glu4215Val) | |
| 1 | g.215675267T>C | CA344850239 | USH2A | c.12644A>G (p.Glu4215Gly) | |
| 1 | g.215675267T>G | CA344850240 | USH2A | c.12644A>C (p.Glu4215Ala) | |
| 1 | g.215675268C>A | CA37413050 | USH2A | c.12643G>T (p.Glu4215Ter) | dbSNP |
| 1 | g.215675268C= | CA1220373871 | USH2A | c.12643G= (p.Glu4215=) | |
| 1 | g.215675268C>G | CA344850243 | USH2A | c.12643G>C (p.Glu4215Gln) | |
| 1 | g.215675268C>T | CA344850242 | USH2A | c.12643G>A (p.Glu4215Lys) | |
| 1 | g.215675269T>A | CA423428361 | USH2A | c.12642A>T (p.Thr4214=) | |
| 1 | g.215675269T>C | CA423428363 | USH2A | c.12642A>G (p.Thr4214=) | |
| 1 | g.215675269T>G | CA423428366 | USH2A | c.12642A>C (p.Thr4214=) | gnomAD v4 |
| 1 | g.215675269_215675270delinsTG | CA1220373872 | USH2A | c.12641_12642delinsCA (p.Thr4214=) | |
| 1 | g.215675270del | CA1012179146 | USH2A | c.12641del (p.Thr4214LysfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675270G>A | CA344850246 | USH2A | c.12641C>T (p.Thr4214Ile) | |
| 1 | g.215675270G>C | CA344850247 | USH2A | c.12641C>G (p.Thr4214Arg) | |
| 1 | g.215675270G>T | CA344850248 | USH2A | c.12641C>A (p.Thr4214Lys) | |
| 1 | g.215675271T>A | CA344850249 | USH2A | c.12640A>T (p.Thr4214Ser) | |
| 1 | g.215675271T>C | CA1393433 | USH2A | c.12640A>G (p.Thr4214Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215675271T>G | CA344850253 | USH2A | c.12640A>C (p.Thr4214Pro) | |
| 1 | g.215675271T= | CA1142032944 | USH2A | c.12640A= (p.Thr4214=) | |
| 1 | g.215675272G>A | CA423428371 | USH2A | c.12639C>T (p.Phe4213=) | |
| 1 | g.215675272G>C | CA344850255 | USH2A | c.12639C>G (p.Phe4213Leu) | |
| 1 | g.215675272G>T | CA344850257 | USH2A | c.12639C>A (p.Phe4213Leu) | |
| 1 | g.215675273A= | CA1220373873 | USH2A | c.12638T= (p.Phe4213=) | |
| 1 | g.215675273A>C | CA344850261 | USH2A | c.12638T>G (p.Phe4213Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675273A>G | CA344850263 | USH2A | c.12638T>C (p.Phe4213Ser) | |
| 1 | g.215675273A>T | CA344850270 | USH2A | c.12638T>A (p.Phe4213Tyr) | |
| 1 | g.215675276del | CA2574132915 | USH2A | c.12638del (p.Phe4213SerfsTer?) | |
| 1 | g.215675274A>C | CA344850273 | USH2A | c.12637T>G (p.Phe4213Val) | |
| 1 | g.215675274A>G | CA344850283 | USH2A | c.12637T>C (p.Phe4213Leu) | |
| 1 | g.215675274A>T | CA344850285 | USH2A | c.12637T>A (p.Phe4213Ile) | |
| 1 | g.215675275A>C | CA423428378 | USH2A | c.12636T>G (p.Val4212=) | |
| 1 | g.215675275A>G | CA423428379 | USH2A | c.12636T>C (p.Val4212=) | |
| 1 | g.215675275A>T | CA423428380 | USH2A | c.12636T>A (p.Val4212=) | |
| 1 | g.215675276A>C | CA344850294 | USH2A | c.12635T>G (p.Val4212Gly) | |
| 1 | g.215675276A>G | CA344850291 | USH2A | c.12635T>C (p.Val4212Ala) | gnomAD v4 |
| 1 | g.215675276A>T | CA344850289 | USH2A | c.12635T>A (p.Val4212Asp) | |
| 1 | g.215675277C>A | CA344850296 | USH2A | c.12634G>T (p.Val4212Phe) | ClinVar dbSNP |
| 1 | g.215675277C>G | CA344850297 | USH2A | c.12634G>C (p.Val4212Leu) | |
| 1 | g.215675277C>T | CA344850298 | USH2A | c.12634G>A (p.Val4212Ile) | |
| 1 | g.215675278A= | CA1148224963 | USH2A | c.12633T= (p.Ile4211=) | |
| 1 | g.215675278A>C | CA179507 | USH2A | c.12633T>G (p.Ile4211Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675278A>G | CA423428386 | USH2A | c.12633T>C (p.Ile4211=) | dbSNP gnomAD v4 |
| 1 | g.215675278A>T | CA423428385 | USH2A | c.12633T>A (p.Ile4211=) | |
| 1 | g.215675279A>C | CA344850299 | USH2A | c.12632T>G (p.Ile4211Ser) | |
| 1 | g.215675279A>G | CA344850300 | USH2A | c.12632T>C (p.Ile4211Thr) | |
| 1 | g.215675279A>T | CA344850301 | USH2A | c.12632T>A (p.Ile4211Asn) | |
| 1 | g.215675279_215675282delinsATTT | CA1220373874 | USH2A | c.12629_12632delinsAAAT (p.Lys4210=) | |
| 1 | g.215675279_215675286dup | CA2650500593 | USH2A | c.12625_12632dup (p.Ile4211MetfsTer?) | gnomAD v4 |
| 1 | g.215675280T>A | CA344850309 | USH2A | c.12631A>T (p.Ile4211Phe) | |
| 1 | g.215675280T>C | CA344850304 | USH2A | c.12631A>G (p.Ile4211Val) | dbSNP gnomAD v4 |
| 1 | g.215675280T>G | CA344850306 | USH2A | c.12631A>C (p.Ile4211Leu) | |
| 1 | g.215675280T= | CA1220373875 | USH2A | c.12631A= (p.Ile4211=) | |
| 1 | g.215675281_215675283del | CA1012179164 | USH2A | c.12629_12631del (p.Lys4210del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675281T>A | CA344850311 | USH2A | c.12630A>T (p.Lys4210Asn) | |
| 1 | g.215675281T>C | CA423428394 | USH2A | c.12630A>G (p.Lys4210=) | |
| 1 | g.215675281T>G | CA344850314 | USH2A | c.12630A>C (p.Lys4210Asn) | |
| 1 | g.215675282T>A | CA344850316 | USH2A | c.12629A>T (p.Lys4210Ile) | |
| 1 | g.215675282T>C | CA344850317 | USH2A | c.12629A>G (p.Lys4210Arg) | |
| 1 | g.215675282T>G | CA344850318 | USH2A | c.12629A>C (p.Lys4210Thr) | |
| 1 | g.215675283T>A | CA344850319 | USH2A | c.12628A>T (p.Lys4210Ter) | |
| 1 | g.215675283T>C | CA344850322 | USH2A | c.12628A>G (p.Lys4210Glu) | |
| 1 | g.215675283T>G | CA344850320 | USH2A | c.12628A>C (p.Lys4210Gln) | |
| 1 | g.215675284C>A | CA344850323 | USH2A | c.12627G>T (p.Glu4209Asp) | |
| 1 | g.215675284C>G | CA344850331 | USH2A | c.12627G>C (p.Glu4209Asp) | |
| 1 | g.215675284C>T | CA423428401 | USH2A | c.12627G>A (p.Glu4209=) | |
| 1 | g.215675285T>A | CA344850336 | USH2A | c.12626A>T (p.Glu4209Val) | |
| 1 | g.215675285T>C | CA344850339 | USH2A | c.12626A>G (p.Glu4209Gly) | |
| 1 | g.215675285T>G | CA344850342 | USH2A | c.12626A>C (p.Glu4209Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675285T= | CA1220373876 | USH2A | c.12626A= (p.Glu4209=) | |
| 1 | g.215675286C>A | CA344850346 | USH2A | c.12625G>T (p.Glu4209Ter) | |
| 1 | g.215675286C= | CA1141836214 | USH2A | c.12625G= (p.Glu4209=) | |
| 1 | g.215675286C>G | CA344850347 | USH2A | c.12625G>C (p.Glu4209Gln) | |
| 1 | g.215675286C>T | CA1393434 | USH2A | c.12625G>A (p.Glu4209Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675287G>A | CA1393435 | USH2A | c.12624C>T (p.Asp4208=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675287G>C | CA344850354 | USH2A | c.12624C>G (p.Asp4208Glu) | ClinVar |
| 1 | g.215675287G= | CA1144046426 | USH2A | c.12624C= (p.Asp4208=) | |
| 1 | g.215675287G>T | CA1393436 | USH2A | c.12624C>A (p.Asp4208Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675288T>A | CA344850358 | USH2A | c.12623A>T (p.Asp4208Val) | |
| 1 | g.215675288T>C | CA344850360 | USH2A | c.12623A>G (p.Asp4208Gly) | |
| 1 | g.215675288T>G | CA344850359 | USH2A | c.12623A>C (p.Asp4208Ala) | |
| 1 | g.215675289C>A | CA344850361 | USH2A | c.12622G>T (p.Asp4208Tyr) | |
| 1 | g.215675289C= | CA1144412103 | USH2A | c.12622G= (p.Asp4208=) | |
| 1 | g.215675289C>G | CA344850362 | USH2A | c.12622G>C (p.Asp4208His) | |
| 1 | g.215675289C>T | CA1393437 | USH2A | c.12622G>A (p.Asp4208Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215675290G>A | CA1393438 | USH2A | c.12621C>T (p.Ala4207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215675290G>C | CA423428420 | USH2A | c.12621C>G (p.Ala4207=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.215675290G= | CA1143670890 | USH2A | c.12621C= (p.Ala4207=) | |
| 1 | g.215675290G>T | CA423428421 | USH2A | c.12621C>A (p.Ala4207=) | |
| 1 | g.215675291G>A | CA344850364 | USH2A | c.12620C>T (p.Ala4207Val) | |
| 1 | g.215675291G>C | CA344850371 | USH2A | c.12620C>G (p.Ala4207Gly) | |
| 1 | g.215675291G>T | CA344850372 | USH2A | c.12620C>A (p.Ala4207Asp) | gnomAD v4 |
| 1 | g.215675292C>A | CA344850374 | USH2A | c.12619G>T (p.Ala4207Ser) | |
| 1 | g.215675292C= | CA1220373877 | USH2A | c.12619G= (p.Ala4207=) | |
| 1 | g.215675292C>G | CA344850377 | USH2A | c.12619G>C (p.Ala4207Pro) | |
| 1 | g.215675292C>T | CA1393439 | USH2A | c.12619G>A (p.Ala4207Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675293C>A | CA344850379 | USH2A | c.12618G>T (p.Gln4206His) | gnomAD v4 |
| 1 | g.215675293C= | CA1220373878 | USH2A | c.12618G= (p.Gln4206=) | |
| 1 | g.215675293C>G | CA344850382 | USH2A | c.12618G>C (p.Gln4206His) | |
| 1 | g.215675293C>T | CA423428427 | USH2A | c.12618G>A (p.Gln4206=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675294T>A | CA344850384 | USH2A | c.12617A>T (p.Gln4206Leu) | |
| 1 | g.215675294T>C | CA344850387 | USH2A | c.12617A>G (p.Gln4206Arg) | |
| 1 | g.215675294T>G | CA344850389 | USH2A | c.12617A>C (p.Gln4206Pro) | |
| 1 | g.215675294_215675296del | CA2569469968 | USH2A | c.12615_12617del (p.Ile4205_Gln4206delinsMet) | |
| 1 | g.215675295G>A | CA344850392 | USH2A | c.12616C>T (p.Gln4206Ter) | |
| 1 | g.215675295G>C | CA344850394 | USH2A | c.12616C>G (p.Gln4206Glu) | |
| 1 | g.215675295G>T | CA344850393 | USH2A | c.12616C>A (p.Gln4206Lys) | |
| 1 | g.215675296G>A | CA423428431 | USH2A | c.12615C>T (p.Ile4205=) | |
| 1 | g.215675296G>C | CA344850396 | USH2A | c.12615C>G (p.Ile4205Met) | |
| 1 | g.215675296G= | CA1220373879 | USH2A | c.12615C= (p.Ile4205=) | |
| 1 | g.215675296G>T | CA423428433 | USH2A | c.12615C>A (p.Ile4205=) | dbSNP COSMIC COSMIC |
| 1 | g.215675297A>C | CA344850399 | USH2A | c.12614T>G (p.Ile4205Ser) | |
| 1 | g.215675297A>G | CA344850401 | USH2A | c.12614T>C (p.Ile4205Thr) | ClinVar |
| 1 | g.215675297A>T | CA344850402 | USH2A | c.12614T>A (p.Ile4205Asn) | |
| 1 | g.215675298T>A | CA344850404 | USH2A | c.12613A>T (p.Ile4205Phe) | |
| 1 | g.215675298T>C | CA344850405 | USH2A | c.12613A>G (p.Ile4205Val) | |
| 1 | g.215675298T>G | CA344850407 | USH2A | c.12613A>C (p.Ile4205Leu) | |
| 1 | g.215675299T>A | CA423428441 | USH2A | c.12612A>T (p.Thr4204=) | dbSNP |
| 1 | g.215675299T>C | CA181134 | USH2A | c.12612A>G (p.Thr4204=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675299T>G | CA423428442 | USH2A | c.12612A>C (p.Thr4204=) | |
| 1 | g.215675299T= | CA179509 | USH2A | c.12612A= (p.Thr4204=) | |
| 1 | g.215675299_215675300delinsCA | CA2573131588 | USH2A | c.12611_12612delinsTG (p.Thr4204Met) | ClinVar |
| 1 | g.215675300G>A | CA1393440 | USH2A | c.12611C>T (p.Thr4204Ile) c.12611C>T (p.Thr4204Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215675300G>C | CA344850413 | USH2A | c.12611C>G (p.Thr4204Arg) | |
| 1 | g.215675300G= | CA1220373880 | USH2A | c.12611C= (p.Thr4204=) | |
| 1 | g.215675300G>T | CA344850411 | USH2A | c.12611C>A (p.Thr4204Lys) | |
| 1 | g.215675301T>A | CA344850416 | USH2A | c.12610A>T (p.Thr4204Ser) | |
| 1 | g.215675301T>C | CA344850418 | USH2A | c.12610A>G (p.Thr4204Ala) | dbSNP gnomAD v2 |
| 1 | g.215675301T>G | CA344850424 | USH2A | c.12610A>C (p.Thr4204Pro) | |
| 1 | g.215675301T= | CA1220373881 | USH2A | c.12610A= (p.Thr4204=) | |
| 1 | g.215675301_215675302insTGCT | CA2531373683 | USH2A | c.12610_12611insGCAA (p.Thr4204SerfsTer15) | |
| 1 | g.215675302C>A | CA344850426 | USH2A | c.12609G>T (p.Gln4203His) | |
| 1 | g.215675302C>G | CA344850427 | USH2A | c.12609G>C (p.Gln4203His) | |
| 1 | g.215675302C>T | CA423428448 | USH2A | c.12609G>A (p.Gln4203=) | COSMIC COSMIC |
| 1 | g.215675303T>A | CA344850428 | USH2A | c.12608A>T (p.Gln4203Leu) | |
| 1 | g.215675303T>C | CA143296 | USH2A | c.12608A>G (p.Gln4203Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215675303T>G | CA344850433 | USH2A | c.12608A>C (p.Gln4203Pro) | |
| 1 | g.215675303T= | CA1142248300 | USH2A | c.12608A= (p.Gln4203=) | |
| 1 | g.215675304G>A | CA344850437 | USH2A | c.12607C>T (p.Gln4203Ter) | |
| 1 | g.215675304G>C | CA344850447 | USH2A | c.12607C>G (p.Gln4203Glu) | |
| 1 | g.215675304G>T | CA344850450 | USH2A | c.12607C>A (p.Gln4203Lys) | |
| 1 | g.215675305A>C | CA344850452 | USH2A | c.12606T>G (p.Asn4202Lys) | |
| 1 | g.215675305A>G | CA423428457 | USH2A | c.12606T>C (p.Asn4202=) | |
| 1 | g.215675305A>T | CA344850454 | USH2A | c.12606T>A (p.Asn4202Lys) | gnomAD v4 |
| 1 | g.215675305_215675306del | CA2547613001 | USH2A | c.12605_12606del (p.Asn4202ThrfsTer15) | |
| 1 | g.215675306T>A | CA344850462 | USH2A | c.12605A>T (p.Asn4202Ile) | |
| 1 | g.215675306T>C | CA344850460 | USH2A | c.12605A>G (p.Asn4202Ser) | |
| 1 | g.215675306T>G | CA344850459 | USH2A | c.12605A>C (p.Asn4202Thr) | |
| 1 | g.215675306_215675315del | CA1012179195 | USH2A | c.12596_12605del (p.Ala4199ValfsTer?) | gnomAD v3 gnomAD v4 |
| 1 | g.215675307T>A | CA344850465 | USH2A | c.12604A>T (p.Asn4202Tyr) | |
| 1 | g.215675307T>C | CA344850467 | USH2A | c.12604A>G (p.Asn4202Asp) | |
| 1 | g.215675307T>G | CA344850469 | USH2A | c.12604A>C (p.Asn4202His) | |
| 1 | g.215675308T>A | CA423428464 | USH2A | c.12603A>T (p.Gly4201=) | |
| 1 | g.215675308T>C | CA423428467 | USH2A | c.12603A>G (p.Gly4201=) | |
| 1 | g.215675308T>G | CA423428468 | USH2A | c.12603A>C (p.Gly4201=) | |
| 1 | g.215675308_215675309del | CA913072757 | USH2A | c.12602_12603del (p.Gly4201GlufsTer16) | |
| 1 | g.215675308_215675309delinsTC | CA1220373882 | USH2A | c.12602_12603delinsGA (p.Gly4201=) | |
| 1 | g.215675309C>A | CA344850470 | USH2A | c.12602G>T (p.Gly4201Val) | |
| 1 | g.215675309C>G | CA344850471 | USH2A | c.12602G>C (p.Gly4201Ala) | |
| 1 | g.215675309C>T | CA344850474 | USH2A | c.12602G>A (p.Gly4201Glu) | |
| 1 | g.215675312del | CA658822645 | USH2A | c.12602del (p.Gly4201GlufsTer?) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215675310C>A | CA344850479 | USH2A | c.12601G>T (p.Gly4201Ter) | |
| 1 | g.215675310C>G | CA344850481 | USH2A | c.12601G>C (p.Gly4201Arg) | |
| 1 | g.215675310C>T | CA344850484 | USH2A | c.12601G>A (p.Gly4201Arg) | COSMIC |
| 1 | g.215675311C>A | CA344850485 | USH2A | c.12600G>T (p.Trp4200Cys) | |
| 1 | g.215675311C>G | CA344850486 | USH2A | c.12600G>C (p.Trp4200Cys) | |
| 1 | g.215675311C>T | CA344850487 | USH2A | c.12600G>A (p.Trp4200Ter) | COSMIC |
| 1 | g.215675311_215675312insTG | CA2518843701 | USH2A | c.12599_12600insCA (p.Trp4200CysfsTer?) | |
| 1 | g.215675312C>A | CA344850492 | USH2A | c.12599G>T (p.Trp4200Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675312C= | CA1220373883 | USH2A | c.12599G= (p.Trp4200=) | |
| 1 | g.215675312C>G | CA344850491 | USH2A | c.12599G>C (p.Trp4200Ser) | COSMIC COSMIC |
| 1 | g.215675312C>T | CA344850490 | USH2A | c.12599G>A (p.Trp4200Ter) | ClinVar |
| 1 | g.215675313A= | CA1141381459 | USH2A | c.12598T= (p.Trp4200=) | |
| 1 | g.215675313A>C | CA182586 | USH2A | c.12598T>G (p.Trp4200Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675313A>G | CA344850498 | USH2A | c.12598T>C (p.Trp4200Arg) | gnomAD v4 |
| 1 | g.215675313A>T | CA344850495 | USH2A | c.12598T>A (p.Trp4200Arg) | |
| 1 | g.215675314del | CA2513118951 | USH2A | c.12598del (p.Trp4200GlyfsTer?) | |
| 1 | g.215675314A= | CA1143530676 | USH2A | c.12597T= (p.Ala4199=) | |
| 1 | g.215675314A>C | CA423428477 | USH2A | c.12597T>G (p.Ala4199=) | |
| 1 | g.215675314A>G | CA1393441 | USH2A | c.12597T>C (p.Ala4199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675314A>T | CA423428478 | USH2A | c.12597T>A (p.Ala4199=) | |
| 1 | g.215675315G>A | CA1393442 | USH2A | c.12596C>T (p.Ala4199Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675315G>C | CA344850502 | USH2A | c.12596C>G (p.Ala4199Gly) | |
| 1 | g.215675315G= | CA1220373884 | USH2A | c.12596C= (p.Ala4199=) | |
| 1 | g.215675315G>T | CA344850503 | USH2A | c.12596C>A (p.Ala4199Asp) | |
| 1 | g.215675316C>A | CA344850504 | USH2A | c.12595G>T (p.Ala4199Ser) | |
| 1 | g.215675316C= | CA1220373885 | USH2A | c.12595G= (p.Ala4199=) | |
| 1 | g.215675316C>G | CA344850505 | USH2A | c.12595G>C (p.Ala4199Pro) | COSMIC COSMIC |
| 1 | g.215675316C>T | CA344850506 | USH2A | c.12595G>A (p.Ala4199Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675316_215675317insA | CA2541811735 | USH2A | c.12594_12595insT (p.Ala4199CysfsTer19) | |
| 1 | g.215675317T>A | CA344850507 | USH2A | c.12594A>T (p.Lys4198Asn) | |
| 1 | g.215675317T>C | CA423428483 | USH2A | c.12594A>G (p.Lys4198=) | |
| 1 | g.215675317T>G | CA344850508 | USH2A | c.12594A>C (p.Lys4198Asn) | COSMIC |
| 1 | g.215675318T>A | CA344850510 | USH2A | c.12593A>T (p.Lys4198Ile) | |
| 1 | g.215675318T>C | CA344850512 | USH2A | c.12593A>G (p.Lys4198Arg) | |
| 1 | g.215675318T>G | CA344850514 | USH2A | c.12593A>C (p.Lys4198Thr) | |
| 1 | g.215675318_215675322del | CA1012179208 | USH2A | c.12589_12593del (p.Gly4197SerfsTer19) | gnomAD v3 gnomAD v4 |
| 1 | g.215675318_215675319insG | CA2747717662 | USH2A | c.12592_12593insC (p.Lys4198ThrfsTer20) | |
| 1 | g.215675319T>A | CA344850515 | USH2A | c.12592A>T (p.Lys4198Ter) | |
| 1 | g.215675319T>C | CA344850516 | USH2A | c.12592A>G (p.Lys4198Glu) | |
| 1 | g.215675319T>G | CA344850517 | USH2A | c.12592A>C (p.Lys4198Gln) | |
| 1 | g.215675320T>A | CA423428487 | USH2A | c.12591A>T (p.Gly4197=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215675320T>C | CA423428489 | USH2A | c.12591A>G (p.Gly4197=) | |
| 1 | g.215675320T>G | CA423428490 | USH2A | c.12591A>C (p.Gly4197=) | |
| 1 | g.215675321C>A | CA344850519 | USH2A | c.12590G>T (p.Gly4197Val) | |
| 1 | g.215675321C= | CA1143328867 | USH2A | c.12590G= (p.Gly4197=) | |
| 1 | g.215675321C>G | CA344850518 | USH2A | c.12590G>C (p.Gly4197Ala) | |
| 1 | g.215675321C>T | CA1393443 | USH2A | c.12590G>A (p.Gly4197Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215675321_215675322insATCTTCCAGTCTCCCCTTCCTCATCAATAGC | CA2747717663 | USH2A | c.12590_12591insCTATTGATGAGGAAGGGGAGACTGGAAGATG (p.Lys4198TyrfsTer2) | |
| 1 | g.215675322C>A | CA344850521 | USH2A | c.12589G>T (p.Gly4197Ter) | |
| 1 | g.215675322C= | CA1148272669 | USH2A | c.12589G= (p.Gly4197=) | |
| 1 | g.215675322C>G | CA344850522 | USH2A | c.12589G>C (p.Gly4197Arg) | |
| 1 | g.215675322C>T | CA1393444 | USH2A | c.12589G>A (p.Gly4197Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215675323C>A | CA344850523 | USH2A | c.12588G>T (p.Glu4196Asp) | |
| 1 | g.215675323C= | CA1220373886 | USH2A | c.12588G= (p.Glu4196=) | |
| 1 | g.215675323C>G | CA344850524 | USH2A | c.12588G>C (p.Glu4196Asp) | gnomAD v4 |
| 1 | g.215675323C>T | CA423428494 | USH2A | c.12588G>A (p.Glu4196=) | ClinVar dbSNP |
| 1 | g.215675324T>A | CA344850525 | USH2A | c.12587A>T (p.Glu4196Val) | |
| 1 | g.215675324T>C | CA344850526 | USH2A | c.12587A>G (p.Glu4196Gly) | |
| 1 | g.215675324T>G | CA344850527 | USH2A | c.12587A>C (p.Glu4196Ala) | |
| 1 | g.215675325C>A | CA1393445 | USH2A | c.12586G>T (p.Glu4196Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675325C= | CA1220373887 | USH2A | c.12586G= (p.Glu4196=) | |
| 1 | g.215675325C>G | CA1393446 | USH2A | c.12586G>C (p.Glu4196Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675325C>T | CA344850530 | USH2A | c.12586G>A (p.Glu4196Lys) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215675326G>A | CA1393447 | USH2A | c.12585C>T (p.Phe4195=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215675326G>C | CA344850536 | USH2A | c.12585C>G (p.Phe4195Leu) | |
| 1 | g.215675326G= | CA1220373888 | USH2A | c.12585C= (p.Phe4195=) | |
| 1 | g.215675326G>T | CA344850533 | USH2A | c.12585C>A (p.Phe4195Leu) | COSMIC COSMIC |
| 1 | g.215675327A= | CA1220373889 | USH2A | c.12584T= (p.Phe4195=) | |
| 1 | g.215675327A>C | CA344850538 | USH2A | c.12584T>G (p.Phe4195Cys) | |
| 1 | g.215675327A>G | CA344850541 | USH2A | c.12584T>C (p.Phe4195Ser) | |
| 1 | g.215675327A>T | CA344850542 | USH2A | c.12584T>A (p.Phe4195Tyr) | dbSNP |
| 1 | g.215675328del | CA2505391149 | USH2A | c.12584del (p.Phe4195SerfsTer?) | |
| 1 | g.215675328A>C | CA344850545 | USH2A | c.12583T>G (p.Phe4195Val) | |
| 1 | g.215675328A>G | CA344850550 | USH2A | c.12583T>C (p.Phe4195Leu) | |
| 1 | g.215675328A>T | CA344850552 | USH2A | c.12583T>A (p.Phe4195Ile) | |
| 1 | g.215675329G>A | CA423428500 | USH2A | c.12582C>T (p.Cys4194=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215675329G>C | CA344850555 | USH2A | c.12582C>G (p.Cys4194Trp) | |
| 1 | g.215675329G= | CA1220373890 | USH2A | c.12582C= (p.Cys4194=) | |
| 1 | g.215675329G>T | CA344850556 | USH2A | c.12582C>A (p.Cys4194Ter) | |
| 1 | g.215675330C>A | CA344850559 | USH2A | c.12581G>T (p.Cys4194Phe) | |
| 1 | g.215675330C= | CA1220373891 | USH2A | c.12581G= (p.Cys4194=) | |
| 1 | g.215675330C>G | CA344850561 | USH2A | c.12581G>C (p.Cys4194Ser) | |
| 1 | g.215675330C>T | CA37413088 | USH2A | c.12581G>A (p.Cys4194Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675331A= | CA1220373892 | USH2A | c.12580T= (p.Cys4194=) | |
| 1 | g.215675331A>C | CA344850564 | USH2A | c.12580T>G (p.Cys4194Gly) | |
| 1 | g.215675331A>G | CA344850567 | USH2A | c.12580T>C (p.Cys4194Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675331A>T | CA1393448 | USH2A | c.12580T>A (p.Cys4194Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675334_215675341del | CA1012179222 | USH2A | c.12573_12580del (p.Ile4191MetfsTer24) | gnomAD v3 gnomAD v4 |
| 1 | g.215675332T>A | CA344850572 | USH2A | c.12579A>T (p.Arg4193Ser) | gnomAD v4 |
| 1 | g.215675332T>C | CA423428503 | USH2A | c.12579A>G (p.Arg4193=) | |
| 1 | g.215675332T>G | CA344850575 | USH2A | c.12579A>C (p.Arg4193Ser) | |
| 1 | g.215675333C>A | CA344850581 | USH2A | c.12578G>T (p.Arg4193Ile) | |
| 1 | g.215675333C= | CA1220373893 | USH2A | c.12578G= (p.Arg4193=) | |
| 1 | g.215675333C>G | CA344850583 | USH2A | c.12578G>C (p.Arg4193Thr) | ClinVar dbSNP |
| 1 | g.215675333C>T | CA344850585 | USH2A | c.12578G>A (p.Arg4193Lys) | |
| 1 | g.215675334T>A | CA344850586 | USH2A | c.12577A>T (p.Arg4193Ter) | |
| 1 | g.215675334T>C | CA344850588 | USH2A | c.12577A>G (p.Arg4193Gly) | |
| 1 | g.215675334T>G | CA423428504 | USH2A | c.12577A>C (p.Arg4193=) | |
| 1 | g.215675335G>A | CA423428505 | USH2A | c.12576C>T (p.Arg4192=) | |
| 1 | g.215675335G>C | CA423428506 | USH2A | c.12576C>G (p.Arg4192=) | |
| 1 | g.215675335G>T | CA423428507 | USH2A | c.12576C>A (p.Arg4192=) | |
| 1 | g.215675336C>A | CA344850590 | USH2A | c.12575G>T (p.Arg4192Leu) | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.215675336C= | CA1143363434 | USH2A | c.12575G= (p.Arg4192=) | |
| 1 | g.215675336C>G | CA344850592 | USH2A | c.12575G>C (p.Arg4192Pro) | dbSNP |
| 1 | g.215675336C>T | CA179511 | USH2A | c.12575G>A (p.Arg4192His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675337G>A | CA1393449 | USH2A | c.12574C>T (p.Arg4192Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215675337G>C | CA344850595 | USH2A | c.12574C>G (p.Arg4192Gly) | |
| 1 | g.215675337G= | CA1220373894 | USH2A | c.12574C= (p.Arg4192=) | |
| 1 | g.215675337G>T | CA344850596 | USH2A | c.12574C>A (p.Arg4192Ser) | |
| 1 | g.215675338A>C | CA344850597 | USH2A | c.12573T>G (p.Ile4191Met) | |
| 1 | g.215675338A>G | CA423428508 | USH2A | c.12573T>C (p.Ile4191=) | gnomAD v4 |
| 1 | g.215675338A>T | CA423428509 | USH2A | c.12573T>A (p.Ile4191=) | |
| 1 | g.215675339A>C | CA344850600 | USH2A | c.12572T>G (p.Ile4191Ser) | |
| 1 | g.215675339A>G | CA344850599 | USH2A | c.12572T>C (p.Ile4191Thr) | |
| 1 | g.215675339A>T | CA344850598 | USH2A | c.12572T>A (p.Ile4191Asn) | |
| 1 | g.215675340T>A | CA344850602 | USH2A | c.12571A>T (p.Ile4191Phe) | |
| 1 | g.215675340T>C | CA344850606 | USH2A | c.12571A>G (p.Ile4191Val) | |
| 1 | g.215675340T>G | CA344850603 | USH2A | c.12571A>C (p.Ile4191Leu) | |
| 1 | g.215675341C>A | CA423428510 | USH2A | c.12570G>T (p.Val4190=) | |
| 1 | g.215675341C>G | CA423428511 | USH2A | c.12570G>C (p.Val4190=) | COSMIC |
| 1 | g.215675341C>T | CA423428512 | USH2A | c.12570G>A (p.Val4190=) | |
| 1 | g.215675342A= | CA1220373895 | USH2A | c.12569T= (p.Val4190=) | |
| 1 | g.215675342A>C | CA344850609 | USH2A | c.12569T>G (p.Val4190Gly) | |
| 1 | g.215675342A>G | CA37413100 | USH2A | c.12569T>C (p.Val4190Ala) | ClinVar dbSNP |
| 1 | g.215675342A>T | CA344850611 | USH2A | c.12569T>A (p.Val4190Glu) | |
| 1 | g.215675343C>A | CA344850614 | USH2A | c.12568G>T (p.Val4190Leu) | |
| 1 | g.215675343C>G | CA344850617 | USH2A | c.12568G>C (p.Val4190Leu) | |
| 1 | g.215675343C>T | CA344850620 | USH2A | c.12568G>A (p.Val4190Met) | |
| 1 | g.215675344T>A | CA344850622 | USH2A | c.12567A>T (p.Glu4189Asp) | |
| 1 | g.215675344T>C | CA423428513 | USH2A | c.12567A>G (p.Glu4189=) | |
| 1 | g.215675344T>G | CA344850624 | USH2A | c.12567A>C (p.Glu4189Asp) | |
| 1 | g.215675345T>A | CA344850625 | USH2A | c.12566A>T (p.Glu4189Val) | |
| 1 | g.215675345T>C | CA344850626 | USH2A | c.12566A>G (p.Glu4189Gly) | |
| 1 | g.215675345T>G | CA344850627 | USH2A | c.12566A>C (p.Glu4189Ala) | |
| 1 | g.215675346C>A | CA344850630 | USH2A | c.12565G>T (p.Glu4189Ter) | |
| 1 | g.215675346C>G | CA344850628 | USH2A | c.12565G>C (p.Glu4189Gln) | |
| 1 | g.215675346C>T | CA344850629 | USH2A | c.12565G>A (p.Glu4189Lys) | gnomAD v4 |
| 1 | g.215675347A>C | CA344850631 | USH2A | c.12564T>G (p.Tyr4188Ter) | |
| 1 | g.215675347A>G | CA423428514 | USH2A | c.12564T>C (p.Tyr4188=) | |
| 1 | g.215675347A>T | CA344850632 | USH2A | c.12564T>A (p.Tyr4188Ter) |