UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.215779973T>A | CA423312996 | USH2A | c.10809A>T (p.Ala3603=) | |
| 1 | g.215779973T>C | CA423312995 | USH2A | c.10809A>G (p.Ala3603=) | |
| 1 | g.215779973T>G | CA423312994 | USH2A | c.10809A>C (p.Ala3603=) | gnomAD v4 |
| 1 | g.215779974G>A | CA1393917 | USH2A | c.10808C>T (p.Ala3603Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215779974G>C | CA344834125 | USH2A | c.10808C>G (p.Ala3603Gly) | |
| 1 | g.215779974G= | CA1220414676 | USH2A | c.10808C= (p.Ala3603=) | |
| 1 | g.215779974G>T | CA344834126 | USH2A | c.10808C>A (p.Ala3603Glu) | gnomAD v4 |
| 1 | g.215779975C>A | CA344834128 | USH2A | c.10807G>T (p.Ala3603Ser) | gnomAD v4 |
| 1 | g.215779975C= | CA1145174750 | USH2A | c.10807G= (p.Ala3603=) | |
| 1 | g.215779975C>G | CA344834134 | USH2A | c.10807G>C (p.Ala3603Pro) | |
| 1 | g.215779975C>T | CA1393918 | USH2A | c.10807G>A (p.Ala3603Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779976A= | CA1220414684 | USH2A | c.10806T= (p.Ser3602=) | |
| 1 | g.215779976A>C | CA344834137 | USH2A | c.10806T>G (p.Ser3602Arg) | dbSNP gnomAD v2 |
| 1 | g.215779976A>G | CA423312997 | USH2A | c.10806T>C (p.Ser3602=) | |
| 1 | g.215779976A>T | CA344834141 | USH2A | c.10806T>A (p.Ser3602Arg) | |
| 1 | g.215779977C>A | CA344834145 | USH2A | c.10805G>T (p.Ser3602Ile) | |
| 1 | g.215779977C>G | CA344834148 | USH2A | c.10805G>C (p.Ser3602Thr) | |
| 1 | g.215779977C>T | CA344834151 | USH2A | c.10805G>A (p.Ser3602Asn) | gnomAD v4 |
| 1 | g.215779978T>A | CA344834155 | USH2A | c.10804A>T (p.Ser3602Cys) | |
| 1 | g.215779978T>C | CA344834156 | USH2A | c.10804A>G (p.Ser3602Gly) | |
| 1 | g.215779978T>G | CA344834157 | USH2A | c.10804A>C (p.Ser3602Arg) | |
| 1 | g.215779979T>A | CA423312998 | USH2A | c.10803A>T (p.Leu3601=) | |
| 1 | g.215779979T>C | CA423313000 | USH2A | c.10803A>G (p.Leu3601=) | |
| 1 | g.215779979T>G | CA423312999 | USH2A | c.10803A>C (p.Leu3601=) | |
| 1 | g.215779980A>C | CA344834158 | USH2A | c.10802T>G (p.Leu3601Arg) | |
| 1 | g.215779980A>G | CA344834160 | USH2A | c.10802T>C (p.Leu3601Pro) | |
| 1 | g.215779980A>T | CA344834163 | USH2A | c.10802T>A (p.Leu3601Gln) | |
| 1 | g.215779981G>A | CA423313001 | USH2A | c.10801C>T (p.Leu3601=) | |
| 1 | g.215779981G>C | CA344834165 | USH2A | c.10801C>G (p.Leu3601Val) | dbSNP |
| 1 | g.215779981G= | CA1220414688 | USH2A | c.10801C= (p.Leu3601=) | |
| 1 | g.215779981G>T | CA344834164 | USH2A | c.10801C>A (p.Leu3601Ile) | |
| 1 | g.215779982G>A | CA423313002 | USH2A | c.10800C>T (p.Ala3600=) | gnomAD v4 |
| 1 | g.215779982G>C | CA423313003 | USH2A | c.10800C>G (p.Ala3600=) | ClinVar dbSNP |
| 1 | g.215779982G= | CA1220414694 | USH2A | c.10800C= (p.Ala3600=) | |
| 1 | g.215779982G>T | CA423313004 | USH2A | c.10800C>A (p.Ala3600=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215779983G>A | CA344834167 | USH2A | c.10799C>T (p.Ala3600Val) | gnomAD v4 |
| 1 | g.215779983G>C | CA344834170 | USH2A | c.10799C>G (p.Ala3600Gly) | |
| 1 | g.215779983G>T | CA344834178 | USH2A | c.10799C>A (p.Ala3600Asp) | gnomAD v4 |
| 1 | g.215779984C>A | CA344834182 | USH2A | c.10798G>T (p.Ala3600Ser) | |
| 1 | g.215779984C>G | CA344834184 | USH2A | c.10798G>C (p.Ala3600Pro) | |
| 1 | g.215779984C>T | CA344834187 | USH2A | c.10798G>A (p.Ala3600Thr) | |
| 1 | g.215779985T>A | CA423313005 | USH2A | c.10797A>T (p.Thr3599=) | |
| 1 | g.215779985T>C | CA423313006 | USH2A | c.10797A>G (p.Thr3599=) | |
| 1 | g.215779985T>G | CA423313007 | USH2A | c.10797A>C (p.Thr3599=) | |
| 1 | g.215779986G>A | CA344834191 | USH2A | c.10796C>T (p.Thr3599Ile) | gnomAD v4 |
| 1 | g.215779986G>C | CA344834198 | USH2A | c.10796C>G (p.Thr3599Arg) | dbSNP |
| 1 | g.215779986G= | CA1220414696 | USH2A | c.10796C= (p.Thr3599=) | |
| 1 | g.215779986G>T | CA344834200 | USH2A | c.10796C>A (p.Thr3599Lys) | |
| 1 | g.215779987T>A | CA1393919 | USH2A | c.10795A>T (p.Thr3599Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779987T>C | CA344834209 | USH2A | c.10795A>G (p.Thr3599Ala) | |
| 1 | g.215779987T>G | CA344834212 | USH2A | c.10795A>C (p.Thr3599Pro) | |
| 1 | g.215779987T= | CA1220414700 | USH2A | c.10795A= (p.Thr3599=) | |
| 1 | g.215779988G>A | CA423313008 | USH2A | c.10794C>T (p.Ile3598=) | |
| 1 | g.215779988G>C | CA344834215 | USH2A | c.10794C>G (p.Ile3598Met) | |
| 1 | g.215779988G>T | CA423313009 | USH2A | c.10794C>A (p.Ile3598=) | ClinVar dbSNP |
| 1 | g.215779989A>C | CA344834223 | USH2A | c.10793T>G (p.Ile3598Ser) | |
| 1 | g.215779989A>G | CA344834221 | USH2A | c.10793T>C (p.Ile3598Thr) | |
| 1 | g.215779989A>T | CA344834218 | USH2A | c.10793T>A (p.Ile3598Asn) | |
| 1 | g.215779990T>A | CA344834226 | USH2A | c.10792A>T (p.Ile3598Phe) | gnomAD v4 |
| 1 | g.215779990T>C | CA37435856 | USH2A | c.10792A>G (p.Ile3598Val) | dbSNP gnomAD v4 |
| 1 | g.215779990T>G | CA344834244 | USH2A | c.10792A>C (p.Ile3598Leu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215779990T= | CA1220414703 | USH2A | c.10792A= (p.Ile3598=) | |
| 1 | g.215779991G>A | CA423313010 | USH2A | c.10791C>T (p.Ser3597=) | |
| 1 | g.215779991G>C | CA344834249 | USH2A | c.10791C>G (p.Ser3597Arg) | |
| 1 | g.215779991G>T | CA344834254 | USH2A | c.10791C>A (p.Ser3597Arg) | |
| 1 | g.215779992C>A | CA344834265 | USH2A | c.10790G>T (p.Ser3597Ile) | |
| 1 | g.215779992C>G | CA344834269 | USH2A | c.10790G>C (p.Ser3597Thr) | |
| 1 | g.215779992C>T | CA344834273 | USH2A | c.10790G>A (p.Ser3597Asn) | gnomAD v4 |
| 1 | g.215779993T>A | CA344834275 | USH2A | c.10789A>T (p.Ser3597Cys) | |
| 1 | g.215779993T>C | CA344834279 | USH2A | c.10789A>G (p.Ser3597Gly) | |
| 1 | g.215779993T>G | CA344834282 | USH2A | c.10789A>C (p.Ser3597Arg) | |
| 1 | g.215779994T>A | CA423313011 | USH2A | c.10788A>T (p.Pro3596=) | |
| 1 | g.215779994T>C | CA423313012 | USH2A | c.10788A>G (p.Pro3596=) | |
| 1 | g.215779994T>G | CA423313013 | USH2A | c.10788A>C (p.Pro3596=) | gnomAD v4 |
| 1 | g.215779995G>A | CA1393920 | USH2A | c.10787C>T (p.Pro3596Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779995G>C | CA344834284 | USH2A | c.10787C>G (p.Pro3596Arg) | |
| 1 | g.215779995G= | CA1143636213 | USH2A | c.10787C= (p.Pro3596=) | |
| 1 | g.215779995G>T | CA344834285 | USH2A | c.10787C>A (p.Pro3596Gln) | |
| 1 | g.215779996G>A | CA344834293 | USH2A | c.10786C>T (p.Pro3596Ser) | gnomAD v4 |
| 1 | g.215779996G>C | CA344834298 | USH2A | c.10786C>G (p.Pro3596Ala) | |
| 1 | g.215779996G>T | CA344834289 | USH2A | c.10786C>A (p.Pro3596Thr) | |
| 1 | g.215779997del | CA2574132987 | USH2A | c.10785del (p.Pro3596GlnfsTer6) | |
| 1 | g.215779997T>A | CA423313014 | USH2A | c.10785A>T (p.Pro3595=) | |
| 1 | g.215779997T>C | CA423313015 | USH2A | c.10785A>G (p.Pro3595=) | ClinVar dbSNP |
| 1 | g.215779997T>G | CA423313016 | USH2A | c.10785A>C (p.Pro3595=) | |
| 1 | g.215779997T= | CA1220414710 | USH2A | c.10785A= (p.Pro3595=) | |
| 1 | g.215779998G>A | CA344834303 | USH2A | c.10784C>T (p.Pro3595Leu) | |
| 1 | g.215779998G>C | CA344834306 | USH2A | c.10784C>G (p.Pro3595Arg) | |
| 1 | g.215779998G>T | CA344834304 | USH2A | c.10784C>A (p.Pro3595Gln) | |
| 1 | g.215779999G>A | CA344834310 | USH2A | c.10783C>T (p.Pro3595Ser) | |
| 1 | g.215779999G>C | CA344834315 | USH2A | c.10783C>G (p.Pro3595Ala) | |
| 1 | g.215779999G>T | CA344834312 | USH2A | c.10783C>A (p.Pro3595Thr) | |
| 1 | g.215780000C>A | CA423313018 | USH2A | c.10782G>T (p.Leu3594=) | |
| 1 | g.215780000C= | CA1220414714 | USH2A | c.10782G= (p.Leu3594=) | |
| 1 | g.215780000C>G | CA423313019 | USH2A | c.10782G>C (p.Leu3594=) | |
| 1 | g.215780000C>T | CA1393921 | USH2A | c.10782G>A (p.Leu3594=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215780001A>C | CA344834326 | USH2A | c.10781T>G (p.Leu3594Arg) | |
| 1 | g.215780001A>G | CA344834335 | USH2A | c.10781T>C (p.Leu3594Pro) | |
| 1 | g.215780001A>T | CA344834338 | USH2A | c.10781T>A (p.Leu3594Gln) | |
| 1 | g.215780002G>A | CA423313020 | USH2A | c.10780C>T (p.Leu3594=) | |
| 1 | g.215780002G>C | CA344834341 | USH2A | c.10780C>G (p.Leu3594Val) | |
| 1 | g.215780002G>T | CA344834344 | USH2A | c.10780C>A (p.Leu3594Met) | |
| 1 | g.215780003G>A | CA423313022 | USH2A | c.10779C>T (p.Ile3593=) | |
| 1 | g.215780003G>C | CA37435874 | USH2A | c.10779C>G (p.Ile3593Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215780003G= | CA1220414718 | USH2A | c.10779C= (p.Ile3593=) | |
| 1 | g.215780003G>T | CA1393922 | USH2A | c.10779C>A (p.Ile3593=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215780004A= | CA1220414724 | USH2A | c.10778T= (p.Ile3593=) | |
| 1 | g.215780004A>C | CA344834347 | USH2A | c.10778T>G (p.Ile3593Ser) | |
| 1 | g.215780004A>G | CA344834350 | USH2A | c.10778T>C (p.Ile3593Thr) | |
| 1 | g.215780004A>T | CA344834352 | USH2A | c.10778T>A (p.Ile3593Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215780005T>A | CA344834357 | USH2A | c.10777A>T (p.Ile3593Phe) | |
| 1 | g.215780005T>C | CA1393923 | USH2A | c.10777A>G (p.Ile3593Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215780005T>G | CA344834355 | USH2A | c.10777A>C (p.Ile3593Leu) | |
| 1 | g.215780005T= | CA1148301386 | USH2A | c.10777A= (p.Ile3593=) | |
| 1 | g.215780006G>A | CA423313023 | USH2A | c.10776C>T (p.Ser3592=) | ClinVar |
| 1 | g.215780006G>C | CA344834359 | USH2A | c.10776C>G (p.Ser3592Arg) | |
| 1 | g.215780006G>T | CA344834361 | USH2A | c.10776C>A (p.Ser3592Arg) | |
| 1 | g.215780007C>A | CA344834363 | USH2A | c.10775G>T (p.Ser3592Ile) | |
| 1 | g.215780007C>G | CA344834364 | USH2A | c.10775G>C (p.Ser3592Thr) | |
| 1 | g.215780007C>T | CA344834365 | USH2A | c.10775G>A (p.Ser3592Asn) | |
| 1 | g.215780008T>A | CA344834367 | USH2A | c.10774A>T (p.Ser3592Cys) | dbSNP |
| 1 | g.215780008T>C | CA344834369 | USH2A | c.10774A>G (p.Ser3592Gly) | |
| 1 | g.215780008T>G | CA344834370 | USH2A | c.10774A>C (p.Ser3592Arg) | |
| 1 | g.215780008T= | CA1220414730 | USH2A | c.10774A= (p.Ser3592=) | |
| 1 | g.215780009C>A | CA344834372 | USH2A | c.10773G>T (p.Glu3591Asp) | |
| 1 | g.215780009C>G | CA344834375 | USH2A | c.10773G>C (p.Glu3591Asp) | gnomAD v4 COSMIC COSMIC |
| 1 | g.215780009C>T | CA423313024 | USH2A | c.10773G>A (p.Glu3591=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215780010T>A | CA344834382 | USH2A | c.10772A>T (p.Glu3591Val) | |
| 1 | g.215780010T>C | CA344834379 | USH2A | c.10772A>G (p.Glu3591Gly) | |
| 1 | g.215780010T>G | CA344834378 | USH2A | c.10772A>C (p.Glu3591Ala) | |
| 1 | g.215780011C>A | CA344834385 | USH2A | c.10771G>T (p.Glu3591Ter) | |
| 1 | g.215780011C>G | CA344834386 | USH2A | c.10771G>C (p.Glu3591Gln) | |
| 1 | g.215780011C>T | CA344834387 | USH2A | c.10771G>A (p.Glu3591Lys) | gnomAD v4 |
| 1 | g.215780012C>A | CA423313025 | USH2A | c.10770G>T (p.Pro3590=) | |
| 1 | g.215780012C= | CA1143811137 | USH2A | c.10770G= (p.Pro3590=) | |
| 1 | g.215780012C>G | CA423313026 | USH2A | c.10770G>C (p.Pro3590=) | |
| 1 | g.215780012C>T | CA1393924 | USH2A | c.10770G>A (p.Pro3590=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215780013G>A | CA143231 | USH2A | c.10769C>T (p.Pro3590Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215780013G>C | CA344834390 | USH2A | c.10769C>G (p.Pro3590Arg) | |
| 1 | g.215780013G= | CA1141464559 | USH2A | c.10769C= (p.Pro3590=) | |
| 1 | g.215780013G>T | CA344834391 | USH2A | c.10769C>A (p.Pro3590Gln) | |
| 1 | g.215780014G>A | CA344834393 | USH2A | c.10768C>T (p.Pro3590Ser) | |
| 1 | g.215780014G>C | CA344834399 | USH2A | c.10768C>G (p.Pro3590Ala) | |
| 1 | g.215780014G= | CA1220414743 | USH2A | c.10768C= (p.Pro3590=) | |
| 1 | g.215780014G>T | CA344834401 | USH2A | c.10768C>A (p.Pro3590Thr) | dbSNP |
| 1 | g.215780015A>C | CA423313027 | USH2A | c.10767T>G (p.Val3589=) | |
| 1 | g.215780015A>G | CA423313028 | USH2A | c.10767T>C (p.Val3589=) | |
| 1 | g.215780015A>T | CA423313029 | USH2A | c.10767T>A (p.Val3589=) | |
| 1 | g.215780016A>C | CA344834403 | USH2A | c.10766T>G (p.Val3589Gly) | |
| 1 | g.215780016A>G | CA344834404 | USH2A | c.10766T>C (p.Val3589Ala) | |
| 1 | g.215780016A>T | CA344834405 | USH2A | c.10766T>A (p.Val3589Asp) | |
| 1 | g.215780017C>A | CA1393925 | USH2A | c.10765G>T (p.Val3589Phe) | dbSNP ExAC gnomAD v2 |
| 1 | g.215780017C= | CA1144082069 | USH2A | c.10765G= (p.Val3589=) | |
| 1 | g.215780017C>G | CA344834407 | USH2A | c.10765G>C (p.Val3589Leu) | dbSNP |
| 1 | g.215780017C>T | CA344834406 | USH2A | c.10765G>A (p.Val3589Ile) | |
| 1 | g.215780018T>A | CA423313030 | USH2A | c.10764A>T (p.Gly3588=) | |
| 1 | g.215780018T>C | CA423313031 | USH2A | c.10764A>G (p.Gly3588=) | |
| 1 | g.215780018T>G | CA423313032 | USH2A | c.10764A>C (p.Gly3588=) | |
| 1 | g.215780019C>A | CA344834410 | USH2A | c.10763G>T (p.Gly3588Val) | |
| 1 | g.215780019C= | CA1147291383 | USH2A | c.10763G= (p.Gly3588=) | |
| 1 | g.215780019C>G | CA1393926 | USH2A | c.10763G>C (p.Gly3588Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215780019C>T | CA344834411 | USH2A | c.10763G>A (p.Gly3588Glu) | |
| 1 | g.215780020C>A | CA344834412 | USH2A | c.10762G>T (p.Gly3588Ter) | |
| 1 | g.215780020C>G | CA344834413 | USH2A | c.10762G>C (p.Gly3588Arg) | |
| 1 | g.215780020C>T | CA344834416 | USH2A | c.10762G>A (p.Gly3588Arg) | |
| 1 | g.215780021T>A | CA344834419 | USH2A | c.10761A>T (p.Gln3587His) | |
| 1 | g.215780021T>C | CA423313033 | USH2A | c.10761A>G (p.Gln3587=) | |
| 1 | g.215780021T>G | CA344834423 | USH2A | c.10761A>C (p.Gln3587His) | |
| 1 | g.215780022T>A | CA344834425 | USH2A | c.10760A>T (p.Gln3587Leu) | COSMIC COSMIC |
| 1 | g.215780022T>C | CA344834430 | USH2A | c.10760A>G (p.Gln3587Arg) | COSMIC COSMIC |
| 1 | g.215780022T>G | CA344834433 | USH2A | c.10760A>C (p.Gln3587Pro) | |
| 1 | g.215780023G>A | CA262064 | USH2A | c.10759C>T (p.Gln3587Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215780023G>C | CA344834440 | USH2A | c.10759C>G (p.Gln3587Glu) | |
| 1 | g.215780023G= | CA1141189273 | USH2A | c.10759C= (p.Gln3587=) | |
| 1 | g.215780023G>T | CA344834435 | USH2A | c.10759C>A (p.Gln3587Lys) | COSMIC COSMIC |
| 1 | g.215780024G>A | CA423313035 | USH2A | c.10758C>T (p.Thr3586=) | |
| 1 | g.215780024G>C | CA423313034 | USH2A | c.10758C>G (p.Thr3586=) | |
| 1 | g.215780024G= | CA1220414757 | USH2A | c.10758C= (p.Thr3586=) | |
| 1 | g.215780024G>T | CA37435902 | USH2A | c.10758C>A (p.Thr3586=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215780025G>A | CA344834448 | USH2A | c.10757C>T (p.Thr3586Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215780025G>C | CA344834449 | USH2A | c.10757C>G (p.Thr3586Ser) | |
| 1 | g.215780025G= | CA1220414762 | USH2A | c.10757C= (p.Thr3586=) | |
| 1 | g.215780025G>T | CA344834450 | USH2A | c.10757C>A (p.Thr3586Asn) | gnomAD v4 |
| 1 | g.215780026T>A | CA1393927 | USH2A | c.10756A>T (p.Thr3586Ser) | ClinVar dbSNP ExAC |
| 1 | g.215780026T>C | CA1393928 | USH2A | c.10756A>G (p.Thr3586Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215780026T>G | CA344834451 | USH2A | c.10756A>C (p.Thr3586Pro) | |
| 1 | g.215780026T= | CA1220414766 | USH2A | c.10756A= (p.Thr3586=) | |
| 1 | g.215780027A>C | CA423313036 | USH2A | c.10755T>G (p.Thr3585=) | |
| 1 | g.215780027A>G | CA423313038 | USH2A | c.10755T>C (p.Thr3585=) | |
| 1 | g.215780027A>T | CA423313037 | USH2A | c.10755T>A (p.Thr3585=) | |
| 1 | g.215780028G>A | CA344834452 | USH2A | c.10754C>T (p.Thr3585Ile) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215780028G>C | CA344834453 | USH2A | c.10754C>G (p.Thr3585Ser) | |
| 1 | g.215780028G>T | CA344834454 | USH2A | c.10754C>A (p.Thr3585Asn) | |
| 1 | g.215780029T>A | CA344834455 | USH2A | c.10753A>T (p.Thr3585Ser) | |
| 1 | g.215780029T>C | CA344834456 | USH2A | c.10753A>G (p.Thr3585Ala) | COSMIC COSMIC |
| 1 | g.215780029T>G | CA344834457 | USH2A | c.10753A>C (p.Thr3585Pro) | |
| 1 | g.215780030A= | CA1220414769 | USH2A | c.10752T= (p.Ala3584=) | |
| 1 | g.215780030A>C | CA423313039 | USH2A | c.10752T>G (p.Ala3584=) | |
| 1 | g.215780030A>G | CA423313040 | USH2A | c.10752T>C (p.Ala3584=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215780030A>T | CA423313041 | USH2A | c.10752T>A (p.Ala3584=) | |
| 1 | g.215780031G>A | CA344834459 | USH2A | c.10751C>T (p.Ala3584Val) | COSMIC COSMIC |
| 1 | g.215780031G>C | CA344834460 | USH2A | c.10751C>G (p.Ala3584Gly) | |
| 1 | g.215780031G>T | CA344834458 | USH2A | c.10751C>A (p.Ala3584Asp) | |
| 1 | g.215780032C>A | CA344834461 | USH2A | c.10750G>T (p.Ala3584Ser) | gnomAD v4 |
| 1 | g.215780032C= | CA1220414771 | USH2A | c.10750G= (p.Ala3584=) | |
| 1 | g.215780032C>G | CA344834462 | USH2A | c.10750G>C (p.Ala3584Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215780032C>T | CA344834463 | USH2A | c.10750G>A (p.Ala3584Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215780033T>A | CA37435917 | USH2A | c.10749A>T (p.Ala3583=) | dbSNP gnomAD v4 |
| 1 | g.215780033T>C | CA423313042 | USH2A | c.10749A>G (p.Ala3583=) | |
| 1 | g.215780033T>G | CA423313043 | USH2A | c.10749A>C (p.Ala3583=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215780033T= | CA1148566020 | USH2A | c.10749A= (p.Ala3583=) | |
| 1 | g.215780034G>A | CA344834466 | USH2A | c.10748C>T (p.Ala3583Val) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215780034G>C | CA344834465 | USH2A | c.10748C>G (p.Ala3583Gly) | |
| 1 | g.215780034G= | CA1220414781 | USH2A | c.10748C= (p.Ala3583=) | |
| 1 | g.215780034G>T | CA344834464 | USH2A | c.10748C>A (p.Ala3583Glu) | |
| 1 | g.215780035C>A | CA344834467 | USH2A | c.10747G>T (p.Ala3583Ser) | |
| 1 | g.215780035C>G | CA344834468 | USH2A | c.10747G>C (p.Ala3583Pro) | |
| 1 | g.215780035C>T | CA344834469 | USH2A | c.10747G>A (p.Ala3583Thr) | |
| 1 | g.215780036A>C | CA423313044 | USH2A | c.10746T>G (p.Val3582=) | |
| 1 | g.215780036A>G | CA423313045 | USH2A | c.10746T>C (p.Val3582=) | |
| 1 | g.215780036A>T | CA423313046 | USH2A | c.10746T>A (p.Val3582=) | ClinVar dbSNP |
| 1 | g.215780037A>C | CA344834470 | USH2A | c.10745T>G (p.Val3582Gly) | |
| 1 | g.215780037A>G | CA344834471 | USH2A | c.10745T>C (p.Val3582Ala) | gnomAD v4 |
| 1 | g.215780037A>T | CA344834472 | USH2A | c.10745T>A (p.Val3582Asp) | |
| 1 | g.215780038C>A | CA344834475 | USH2A | c.10744G>T (p.Val3582Phe) | |
| 1 | g.215780038C= | CA1220414785 | USH2A | c.10744G= (p.Val3582=) | |
| 1 | g.215780038C>G | CA344834474 | USH2A | c.10744G>C (p.Val3582Leu) | |
| 1 | g.215780038C>T | CA344834473 | USH2A | c.10744G>A (p.Val3582Ile) | dbSNP |
| 1 | g.215780039T>A | CA423313047 | USH2A | c.10743A>T (p.Val3581=) | |
| 1 | g.215780039T>C | CA423313048 | USH2A | c.10743A>G (p.Val3581=) | |
| 1 | g.215780039T>G | CA423313049 | USH2A | c.10743A>C (p.Val3581=) | |
| 1 | g.215780040A= | CA1220414790 | USH2A | c.10742T= (p.Val3581=) | |
| 1 | g.215780040A>C | CA344834476 | USH2A | c.10742T>G (p.Val3581Gly) | |
| 1 | g.215780040A>G | CA344834477 | USH2A | c.10742T>C (p.Val3581Ala) | dbSNP gnomAD v4 |
| 1 | g.215780040A>T | CA344834478 | USH2A | c.10742T>A (p.Val3581Glu) | |
| 1 | g.215780040_215780041delinsAC | CA1220414788 | USH2A | c.10741_10742delinsGT (p.Val3581=) | |
| 1 | g.215780041C>A | CA344834479 | USH2A | c.10741G>T (p.Val3581Leu) | |
| 1 | g.215780041C>G | CA344834480 | USH2A | c.10741G>C (p.Val3581Leu) | |
| 1 | g.215780041C>T | CA344834481 | USH2A | c.10741G>A (p.Val3581Ile) | gnomAD v4 |
| 1 | g.215780042del | CA1393929 | USH2A | c.10741del | dbSNP ExAC |
| 1 | g.215780042C>A | CA16617054 | USH2A | c.10741-1G>T (n.10741-1G>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215780042C= | CA1220414797 | USH2A | c.10741-1G= (n.10741-1G=) | |
| 1 | g.215780042C>G | CA344834482 | USH2A | c.10741-1G>C (n.10741-1G>C) | |
| 1 | g.215780042C>T | CA344834483 | USH2A | c.10741-1G>A (n.10741-1G>A) | gnomAD v4 |
| 1 | g.215780043T>A | CA344834484 | USH2A | c.10741-2A>T (n.10741-2A>T) | |
| 1 | g.215780043T>C | CA344834485 | USH2A | c.10741-2A>G (n.10741-2A>G) | gnomAD v4 |
| 1 | g.215780043T>G | CA344834486 | USH2A | c.10741-2A>C (n.10741-2A>C) | |
| 1 | g.215780049C= | CA1143698446 | USH2A | c.10741-8G= (n.10741-8G=) | |
| 1 | g.215780049C>T | CA1393930 | USH2A | c.10741-8G>A (n.10741-8G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215780050G>A | CA1393931 | USH2A | c.10741-9C>T (n.10741-9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215780050G= | CA1143956550 | USH2A | c.10741-9C= (n.10741-9C=) | |
| 1 | g.215780051T>C | CA1393932 | USH2A | c.10741-10A>G (n.10741-10A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215780051T= | CA1220414811 | USH2A | c.10741-10A= (n.10741-10A=) | |
| 1 | g.215780053G>A | CA529002323 | USH2A | c.10741-12C>T (n.10741-12C>T) | dbSNP gnomAD v2 |
| 1 | g.215780053G= | CA1220414813 | USH2A | c.10741-12C= (n.10741-12C=) | |
| 1 | g.215780053G>T | CA2525482408 | USH2A | c.10741-12C>A (n.10741-12C>A) | |
| 1 | g.215780057T>C | CA2650526946 | USH2A | c.10741-16A>G (n.10741-16A>G) | gnomAD v4 |
| 1 | g.215780058T>G | CA1012188998 | USH2A | c.10741-17A>C (n.10741-17A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215780058T= | CA1220414815 | USH2A | c.10741-17A= (n.10741-17A=) | |
| 1 | g.215780059A>C | CA2650526947 | USH2A | c.10741-18T>G (n.10741-18T>G) | gnomAD v4 |
| 1 | g.215780060A>G | CA2650526948 | USH2A | c.10741-19T>C (n.10741-19T>C) | gnomAD v4 |
| 1 | g.215780061G>A | CA529002324 | USH2A | c.10741-20C>T (n.10741-20C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215780061G= | CA1220414817 | USH2A | c.10741-20C= (n.10741-20C=) | |
| 1 | g.215780062C>G | CA2567694981 | USH2A | c.10741-21G>C (n.10741-21G>C) | |
| 1 | g.215780063A= | CA1220414820 | USH2A | c.10741-22T= (n.10741-22T=) | |
| 1 | g.215780063A>G | CA529002325 | USH2A | c.10741-22T>C (n.10741-22T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215780064G>A | CA731337315 | USH2A | c.10741-23C>T (n.10741-23C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215780064G= | CA1220414822 | USH2A | c.10741-23C= (n.10741-23C=) | |
| 1 | g.215780065C>A | CA1393933 | USH2A | c.10741-24G>T (n.10741-24G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215780065C= | CA1144170723 | USH2A | c.10741-24G= (n.10741-24G=) | |
| 1 | g.215780065C>T | CA2574133001 | USH2A | c.10741-24G>A (n.10741-24G>A) | |
| 1 | g.215780066A= | CA1144859185 | USH2A | c.10741-25T= (n.10741-25T=) | |
| 1 | g.215780066A>C | CA2747720735 | USH2A | c.10741-25T>G (n.10741-25T>G) | |
| 1 | g.215780066A>G | CA1393934 | USH2A | c.10741-25T>C (n.10741-25T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215780067A= | CA1220414828 | USH2A | c.10741-26T= (n.10741-26T=) | |
| 1 | g.215780067A>T | CA529002326 | USH2A | c.10741-26T>A (n.10741-26T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215780068T>C | CA2650526949 | USH2A | c.10741-27A>G (n.10741-27A>G) | gnomAD v4 |
| 1 | g.215780068_215780069insAG | CA2747720736 | USH2A | c.10741-28_10741-27insCT (n.10741-28_10741-27insCT) | |
| 1 | g.215780071A>C | CA2504131768 | USH2A | c.10741-30T>G (n.10741-30T>G) | |
| 1 | g.215780071A>G | CA2650526950 | USH2A | c.10741-30T>C (n.10741-30T>C) | gnomAD v4 |
| 1 | g.215780071A>T | CA2650526951 | USH2A | c.10741-30T>A (n.10741-30T>A) | gnomAD v4 |
| 1 | g.215780071_215780072delinsAT | CA1220414829 | USH2A | c.10741-31_10741-30delinsAT (n.10741-31_10741-30delinsAT) | |
| 1 | g.215780072T>A | CA2565625275 | USH2A | c.10741-31A>T (n.10741-31A>T) | |
| 1 | g.215780072T>C | CA1393935 | USH2A | c.10741-31A>G (n.10741-31A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215780072T= | CA1220414834 | USH2A | c.10741-31A= (n.10741-31A=) | |
| 1 | g.215780073del | CA1220414831 | USH2A | c.10741-31del (n.10741-31del) | dbSNP |
| 1 | g.215780073T>G | CA2574133002 | USH2A | c.10741-32A>C (n.10741-32A>C) |