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.215680267_215680272del | CA2650501198 | USH2A | c.12173_12178del (p.Leu4058_Ile4059del) | gnomAD v4 |
| 1 | g.215680270_215680292del | CA2586968200 | USH2A | c.12153_12175del (p.Glu4051AspfsTer?) | |
| 1 | g.215680269_215680271delinsTTTA | CA2586968202 | USH2A | c.12172_12174delinsTAAA (p.Leu4058Ter) | ClinVar |
| 1 | g.215680270A>C | CA344816294 | USH2A | c.12173T>G (p.Leu4058Arg) | |
| 1 | g.215680270A>G | CA344816299 | USH2A | c.12173T>C (p.Leu4058Pro) | |
| 1 | g.215680270A>T | CA344816302 | USH2A | c.12173T>A (p.Leu4058Gln) | |
| 1 | g.215680271del | CA2650501210 | USH2A | c.12172del (p.Leu4058Ter) | gnomAD v4 |
| 1 | g.215680271G>A | CA423429908 | USH2A | c.12172C>T (p.Leu4058=) | |
| 1 | g.215680271G>C | CA344816306 | USH2A | c.12172C>G (p.Leu4058Val) | |
| 1 | g.215680271G>T | CA344816305 | USH2A | c.12172C>A (p.Leu4058Met) | |
| 1 | g.215680272A>C | CA423429909 | USH2A | c.12171T>G (p.Thr4057=) | |
| 1 | g.215680272A>G | CA423429911 | USH2A | c.12171T>C (p.Thr4057=) | ClinVar |
| 1 | g.215680272A>T | CA423429910 | USH2A | c.12171T>A (p.Thr4057=) | |
| 1 | g.215680273G>A | CA37358044 | USH2A | c.12170C>T (p.Thr4057Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680273G>C | CA344816311 | USH2A | c.12170C>G (p.Thr4057Ser) | |
| 1 | g.215680273G= | CA1142273044 | USH2A | c.12170C= (p.Thr4057=) | |
| 1 | g.215680273G>T | CA344816313 | USH2A | c.12170C>A (p.Thr4057Asn) | |
| 1 | g.215680274T>A | CA344816316 | USH2A | c.12169A>T (p.Thr4057Ser) | |
| 1 | g.215680274T>C | CA344816318 | USH2A | c.12169A>G (p.Thr4057Ala) | |
| 1 | g.215680274T>G | CA344816321 | USH2A | c.12169A>C (p.Thr4057Pro) | |
| 1 | g.215680275C>A | CA344816322 | USH2A | c.12168G>T (p.Trp4056Cys) | |
| 1 | g.215680275C= | CA1220376373 | USH2A | c.12168G= (p.Trp4056=) | |
| 1 | g.215680275C>G | CA344816326 | USH2A | c.12168G>C (p.Trp4056Cys) | gnomAD v4 |
| 1 | g.215680275C>T | CA344816329 | USH2A | c.12168G>A (p.Trp4056Ter) | dbSNP gnomAD v2 |
| 1 | g.215680276C>A | CA344816332 | USH2A | c.12167G>T (p.Trp4056Leu) | |
| 1 | g.215680276C>G | CA344816335 | USH2A | c.12167G>C (p.Trp4056Ser) | |
| 1 | g.215680276C>T | CA344816337 | USH2A | c.12167G>A (p.Trp4056Ter) | |
| 1 | g.215680277A>C | CA344816346 | USH2A | c.12166T>G (p.Trp4056Gly) | |
| 1 | g.215680277A>G | CA344816344 | USH2A | c.12166T>C (p.Trp4056Arg) | |
| 1 | g.215680277A>T | CA344816342 | USH2A | c.12166T>A (p.Trp4056Arg) | |
| 1 | g.215680279_215680286del | CA2650501212 | USH2A | c.12159_12166del (p.Ser4054AspfsTer?) | gnomAD v4 |
| 1 | g.215680278A= | CA1220376375 | USH2A | c.12165T= (p.Pro4055=) | |
| 1 | g.215680278A>C | CA423429915 | USH2A | c.12165T>G (p.Pro4055=) | |
| 1 | g.215680278A>G | CA1393525 | USH2A | c.12165T>C (p.Pro4055=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215680278A>T | CA423429916 | USH2A | c.12165T>A (p.Pro4055=) | |
| 1 | g.215680279G>A | CA344816356 | USH2A | c.12164C>T (p.Pro4055Leu) | |
| 1 | g.215680279G>C | CA344816353 | USH2A | c.12164C>G (p.Pro4055Arg) | |
| 1 | g.215680279G>T | CA344816358 | USH2A | c.12164C>A (p.Pro4055His) | |
| 1 | g.215680281del | CA2573131610 | USH2A | c.12164del (p.Pro4055LeufsTer4) | ClinVar dbSNP |
| 1 | g.215680280G>A | CA344816362 | USH2A | c.12163C>T (p.Pro4055Ser) | |
| 1 | g.215680280G>C | CA344816368 | USH2A | c.12163C>G (p.Pro4055Ala) | gnomAD v4 |
| 1 | g.215680280G>T | CA344816365 | USH2A | c.12163C>A (p.Pro4055Thr) | |
| 1 | g.215680281G>A | CA423429918 | USH2A | c.12162C>T (p.Ser4054=) | |
| 1 | g.215680281G>C | CA344816373 | USH2A | c.12162C>G (p.Ser4054Arg) | |
| 1 | g.215680281G>T | CA344816376 | USH2A | c.12162C>A (p.Ser4054Arg) | COSMIC COSMIC |
| 1 | g.215680282C>A | CA344816379 | USH2A | c.12161G>T (p.Ser4054Ile) | ClinVar dbSNP |
| 1 | g.215680282C= | CA1220376378 | USH2A | c.12161G= (p.Ser4054=) | |
| 1 | g.215680282C>G | CA344816382 | USH2A | c.12161G>C (p.Ser4054Thr) | |
| 1 | g.215680282C>T | CA344816384 | USH2A | c.12161G>A (p.Ser4054Asn) | |
| 1 | g.215680283T>A | CA344816387 | USH2A | c.12160A>T (p.Ser4054Cys) | |
| 1 | g.215680283T>C | CA344816401 | USH2A | c.12160A>G (p.Ser4054Gly) | |
| 1 | g.215680283T>G | CA344816403 | USH2A | c.12160A>C (p.Ser4054Arg) | |
| 1 | g.215680284T>A | CA344816408 | USH2A | c.12159A>T (p.Leu4053Phe) | |
| 1 | g.215680284T>C | CA423429921 | USH2A | c.12159A>G (p.Leu4053=) | |
| 1 | g.215680284T>G | CA344816410 | USH2A | c.12159A>C (p.Leu4053Phe) | |
| 1 | g.215680285A>C | CA344816414 | USH2A | c.12158T>G (p.Leu4053Ter) | |
| 1 | g.215680285A>G | CA344816416 | USH2A | c.12158T>C (p.Leu4053Ser) | |
| 1 | g.215680285A>T | CA344816419 | USH2A | c.12158T>A (p.Leu4053Ter) | |
| 1 | g.215680286A>C | CA344816422 | USH2A | c.12157T>G (p.Leu4053Val) | COSMIC COSMIC |
| 1 | g.215680286A>G | CA423429923 | USH2A | c.12157T>C (p.Leu4053=) | |
| 1 | g.215680286A>T | CA344816425 | USH2A | c.12157T>A (p.Leu4053Ile) | |
| 1 | g.215680287A>C | CA344816428 | USH2A | c.12156T>G (p.Ile4052Met) | |
| 1 | g.215680287A>G | CA423429925 | USH2A | c.12156T>C (p.Ile4052=) | |
| 1 | g.215680287A>T | CA423429924 | USH2A | c.12156T>A (p.Ile4052=) | |
| 1 | g.215680288A= | CA1220376382 | USH2A | c.12155T= (p.Ile4052=) | |
| 1 | g.215680288A>C | CA344816430 | USH2A | c.12155T>G (p.Ile4052Ser) | |
| 1 | g.215680288A>G | CA344816436 | USH2A | c.12155T>C (p.Ile4052Thr) | |
| 1 | g.215680288A>T | CA344816433 | USH2A | c.12155T>A (p.Ile4052Asn) | dbSNP |
| 1 | g.215680289T>A | CA344816438 | USH2A | c.12154A>T (p.Ile4052Phe) | |
| 1 | g.215680289T>C | CA344816452 | USH2A | c.12154A>G (p.Ile4052Val) | |
| 1 | g.215680289T>G | CA344816455 | USH2A | c.12154A>C (p.Ile4052Leu) | |
| 1 | g.215680291del | CA2580062358 | USH2A | c.12154del (p.Ile4052PhefsTer2) | ClinVar |
| 1 | g.215680290T>A | CA344816459 | USH2A | c.12153A>T (p.Glu4051Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215680290T>C | CA423429927 | USH2A | c.12153A>G (p.Glu4051=) | |
| 1 | g.215680290T>G | CA344816462 | USH2A | c.12153A>C (p.Glu4051Asp) | |
| 1 | g.215680290T= | CA1220376384 | USH2A | c.12153A= (p.Glu4051=) | |
| 1 | g.215680290_215680291insAA | CA16609675 | USH2A | c.12152_12153insTT (p.Glu4051AspfsTer2) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680291T>A | CA344816466 | USH2A | c.12152A>T (p.Glu4051Val) | |
| 1 | g.215680291T>C | CA344816468 | USH2A | c.12152A>G (p.Glu4051Gly) | |
| 1 | g.215680291T>G | CA344816471 | USH2A | c.12152A>C (p.Glu4051Ala) | |
| 1 | g.215680292C>A | CA344816473 | USH2A | c.12151G>T (p.Glu4051Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215680292C= | CA1220376393 | USH2A | c.12151G= (p.Glu4051=) | |
| 1 | g.215680292C>G | CA344816474 | USH2A | c.12151G>C (p.Glu4051Gln) | COSMIC COSMIC |
| 1 | g.215680292C>T | CA344816475 | USH2A | c.12151G>A (p.Glu4051Lys) | gnomAD v4 |
| 1 | g.215680293T>A | CA423429929 | USH2A | c.12150A>T (p.Gly4050=) | |
| 1 | g.215680293T>C | CA423429930 | USH2A | c.12150A>G (p.Gly4050=) | |
| 1 | g.215680293T>G | CA423429931 | USH2A | c.12150A>C (p.Gly4050=) | |
| 1 | g.215680294C>A | CA344816479 | USH2A | c.12149G>T (p.Gly4050Val) | |
| 1 | g.215680294C= | CA1220376399 | USH2A | c.12149G= (p.Gly4050=) | |
| 1 | g.215680294C>G | CA344816485 | USH2A | c.12149G>C (p.Gly4050Ala) | COSMIC COSMIC |
| 1 | g.215680294C>T | CA37358059 | USH2A | c.12149G>A (p.Gly4050Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215680295C>A | CA344816488 | USH2A | c.12148G>T (p.Gly4050Ter) | gnomAD v4 |
| 1 | g.215680295C= | CA1220376404 | USH2A | c.12148G= (p.Gly4050=) | |
| 1 | g.215680295C>G | CA344816490 | USH2A | c.12148G>C (p.Gly4050Arg) | |
| 1 | g.215680295C>T | CA344816504 | USH2A | c.12148G>A (p.Gly4050Arg) | dbSNP gnomAD v4 |
| 1 | g.215680295_215680304del | CA913072758 | USH2A | c.12139_12148del (p.Asn4047GlufsTer4) | |
| 1 | g.215680295_215680304delinsCTGCATGGTT | CA1220376406 | USH2A | c.12139_12148delinsAACCATGCAG (p.Asn4047=) | |
| 1 | g.215680296T>A | CA423429932 | USH2A | c.12147A>T (p.Ala4049=) | |
| 1 | g.215680296T>C | CA423429933 | USH2A | c.12147A>G (p.Ala4049=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215680296T>G | CA423429934 | USH2A | c.12147A>C (p.Ala4049=) | |
| 1 | g.215680296T= | CA1220376412 | USH2A | c.12147A= (p.Ala4049=) | |
| 1 | g.215680300_215680308del | CA658822647 | USH2A | c.12139_12147del (p.Asn4047_Ala4049del) | ClinVar dbSNP |
| 1 | g.215680297G>A | CA344816508 | USH2A | c.12146C>T (p.Ala4049Val) | |
| 1 | g.215680297G>C | CA344816511 | USH2A | c.12146C>G (p.Ala4049Gly) | |
| 1 | g.215680297G>T | CA344816512 | USH2A | c.12146C>A (p.Ala4049Glu) | |
| 1 | g.215680298C>A | CA344816514 | USH2A | c.12145G>T (p.Ala4049Ser) | ClinVar |
| 1 | g.215680298C= | CA1141945497 | USH2A | c.12145G= (p.Ala4049=) | |
| 1 | g.215680298C>G | CA344816516 | USH2A | c.12145G>C (p.Ala4049Pro) | |
| 1 | g.215680298C>T | CA1393526 | USH2A | c.12145G>A (p.Ala4049Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215680299A= | CA1144033347 | USH2A | c.12144T= (p.His4048=) | |
| 1 | g.215680299A>C | CA344816519 | USH2A | c.12144T>G (p.His4048Gln) | |
| 1 | g.215680299A>G | CA1393527 | USH2A | c.12144T>C (p.His4048=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680299A>T | CA344816521 | USH2A | c.12144T>A (p.His4048Gln) | |
| 1 | g.215680300T>A | CA344816530 | USH2A | c.12143A>T (p.His4048Leu) | COSMIC COSMIC |
| 1 | g.215680300T>C | CA344816528 | USH2A | c.12143A>G (p.His4048Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680300T>G | CA344816522 | USH2A | c.12143A>C (p.His4048Pro) | |
| 1 | g.215680300T= | CA1220376425 | USH2A | c.12143A= (p.His4048=) | |
| 1 | g.215680300_215680301insAA | CA1220376429 | USH2A | c.12142_12143insTT (p.His4048LeufsTer7) | dbSNP |
| 1 | g.215680301G>A | CA344816532 | USH2A | c.12142C>T (p.His4048Tyr) | |
| 1 | g.215680301G>C | CA344816534 | USH2A | c.12142C>G (p.His4048Asp) | |
| 1 | g.215680301G= | CA1220376430 | USH2A | c.12142C= (p.His4048=) | |
| 1 | g.215680301G>T | CA344816537 | USH2A | c.12142C>A (p.His4048Asn) | |
| 1 | g.215680301_215680302insAAATTAT | CA1220376432 | USH2A | c.12141_12142insATAATTT (p.His4048IlefsTer?) | dbSNP |
| 1 | g.215680302G>A | CA1393528 | USH2A | c.12141C>T (p.Asn4047=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215680302G>C | CA344816540 | USH2A | c.12141C>G (p.Asn4047Lys) | |
| 1 | g.215680302G= | CA1220376434 | USH2A | c.12141C= (p.Asn4047=) | |
| 1 | g.215680302G>T | CA344816542 | USH2A | c.12141C>A (p.Asn4047Lys) | |
| 1 | g.215680303T>A | CA344816544 | USH2A | c.12140A>T (p.Asn4047Ile) | |
| 1 | g.215680303T>C | CA344816546 | USH2A | c.12140A>G (p.Asn4047Ser) | |
| 1 | g.215680303T>G | CA344816547 | USH2A | c.12140A>C (p.Asn4047Thr) | |
| 1 | g.215680304T>A | CA344816550 | USH2A | c.12139A>T (p.Asn4047Tyr) | |
| 1 | g.215680304T>C | CA344816552 | USH2A | c.12139A>G (p.Asn4047Asp) | |
| 1 | g.215680304T>G | CA344816553 | USH2A | c.12139A>C (p.Asn4047His) | |
| 1 | g.215680305T>A | CA423429941 | USH2A | c.12138A>T (p.Ala4046=) | |
| 1 | g.215680305T>C | CA423429943 | USH2A | c.12138A>G (p.Ala4046=) | |
| 1 | g.215680305T>G | CA423429942 | USH2A | c.12138A>C (p.Ala4046=) | |
| 1 | g.215680306G>A | CA344816556 | USH2A | c.12137C>T (p.Ala4046Val) | |
| 1 | g.215680306G>C | CA344816559 | USH2A | c.12137C>G (p.Ala4046Gly) | dbSNP |
| 1 | g.215680306G= | CA1220376436 | USH2A | c.12137C= (p.Ala4046=) | |
| 1 | g.215680306G>T | CA344816557 | USH2A | c.12137C>A (p.Ala4046Glu) | gnomAD v4 |
| 1 | g.215680307C>A | CA344816561 | USH2A | c.12136G>T (p.Ala4046Ser) | |
| 1 | g.215680307C= | CA1220376438 | USH2A | c.12136G= (p.Ala4046=) | |
| 1 | g.215680307C>G | CA344816563 | USH2A | c.12136G>C (p.Ala4046Pro) | |
| 1 | g.215680307C>T | CA344816565 | USH2A | c.12136G>A (p.Ala4046Thr) | dbSNP gnomAD v4 |
| 1 | g.215680308A>C | CA423429945 | USH2A | c.12135T>G (p.Ala4045=) | |
| 1 | g.215680308A>G | CA423429946 | USH2A | c.12135T>C (p.Ala4045=) | gnomAD v4 |
| 1 | g.215680308A>T | CA423429947 | USH2A | c.12135T>A (p.Ala4045=) | |
| 1 | g.215680309G>A | CA344816567 | USH2A | c.12134C>T (p.Ala4045Val) | |
| 1 | g.215680309G>C | CA344816569 | USH2A | c.12134C>G (p.Ala4045Gly) | |
| 1 | g.215680309G>T | CA344816570 | USH2A | c.12134C>A (p.Ala4045Asp) | |
| 1 | g.215680310C>A | CA344816572 | USH2A | c.12133G>T (p.Ala4045Ser) | gnomAD v4 |
| 1 | g.215680310C>G | CA344816574 | USH2A | c.12133G>C (p.Ala4045Pro) | |
| 1 | g.215680310C>T | CA344816576 | USH2A | c.12133G>A (p.Ala4045Thr) | |
| 1 | g.215680311C>A | CA423429950 | USH2A | c.12132G>T (p.Val4044=) | |
| 1 | g.215680311C= | CA1220376442 | USH2A | c.12132G= (p.Val4044=) | |
| 1 | g.215680311C>G | CA423429951 | USH2A | c.12132G>C (p.Val4044=) | |
| 1 | g.215680311C>T | CA1393529 | USH2A | c.12132G>A (p.Val4044=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215680311_215680314del | CA913072759 | USH2A | c.12129_12132del (p.Val4044LeufsTer9) | |
| 1 | g.215680311_215680314delinsCACA | CA1220376443 | USH2A | c.12129_12132delinsTGTG (p.Val4043=) | |
| 1 | g.215680312A= | CA1147094592 | USH2A | c.12131T= (p.Val4044=) | |
| 1 | g.215680312A>C | CA1393531 | USH2A | c.12131T>G (p.Val4044Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215680312A>G | CA1393530 | USH2A | c.12131T>C (p.Val4044Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680312A>T | CA344816580 | USH2A | c.12131T>A (p.Val4044Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215680315_215680317del | CA658822648 | USH2A | c.12129_12131del (p.Val4044del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215680313C>A | CA344816585 | USH2A | c.12130G>T (p.Val4044Leu) | |
| 1 | g.215680313C>G | CA344816583 | USH2A | c.12130G>C (p.Val4044Leu) | |
| 1 | g.215680313C>T | CA344816581 | USH2A | c.12130G>A (p.Val4044Met) | |
| 1 | g.215680314A>C | CA423429952 | USH2A | c.12129T>G (p.Val4043=) | |
| 1 | g.215680314A>G | CA423429953 | USH2A | c.12129T>C (p.Val4043=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215680314A>T | CA423429955 | USH2A | c.12129T>A (p.Val4043=) | |
| 1 | g.215680315A= | CA1144133366 | USH2A | c.12128T= (p.Val4043=) | |
| 1 | g.215680315A>C | CA1393532 | USH2A | c.12128T>G (p.Val4043Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680315A>G | CA344816587 | USH2A | c.12128T>C (p.Val4043Ala) | gnomAD v4 |
| 1 | g.215680315A>T | CA344816588 | USH2A | c.12128T>A (p.Val4043Asp) | |
| 1 | g.215680316C>A | CA1393533 | USH2A | c.12127G>T (p.Val4043Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215680316C= | CA1220376450 | USH2A | c.12127G= (p.Val4043=) | |
| 1 | g.215680316C>G | CA344816591 | USH2A | c.12127G>C (p.Val4043Leu) | |
| 1 | g.215680316C>T | CA344816593 | USH2A | c.12127G>A (p.Val4043Ile) | |
| 1 | g.215680317A>C | CA423429956 | USH2A | c.12126T>G (p.Gly4042=) | |
| 1 | g.215680317A>G | CA423429958 | USH2A | c.12126T>C (p.Gly4042=) | COSMIC COSMIC |
| 1 | g.215680317A>T | CA423429957 | USH2A | c.12126T>A (p.Gly4042=) | |
| 1 | g.215680318C>A | CA344816595 | USH2A | c.12125G>T (p.Gly4042Val) | |
| 1 | g.215680318C= | CA1220376453 | USH2A | c.12125G= (p.Gly4042=) | |
| 1 | g.215680318C>G | CA344816597 | USH2A | c.12125G>C (p.Gly4042Ala) | |
| 1 | g.215680318C>T | CA344816598 | USH2A | c.12125G>A (p.Gly4042Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215680319C>A | CA344816601 | USH2A | c.12124G>T (p.Gly4042Cys) | |
| 1 | g.215680319C>G | CA344816603 | USH2A | c.12124G>C (p.Gly4042Arg) | |
| 1 | g.215680319C>T | CA344816604 | USH2A | c.12124G>A (p.Gly4042Ser) | |
| 1 | g.215680320A>C | CA344816606 | USH2A | c.12123T>G (p.Ile4041Met) | |
| 1 | g.215680320A>G | CA423429961 | USH2A | c.12123T>C (p.Ile4041=) | gnomAD v4 |
| 1 | g.215680320A>T | CA423429962 | USH2A | c.12123T>A (p.Ile4041=) | |
| 1 | g.215680321A= | CA1220376458 | USH2A | c.12122T= (p.Ile4041=) | |
| 1 | g.215680321A>C | CA344816618 | USH2A | c.12122T>G (p.Ile4041Ser) | |
| 1 | g.215680321A>G | CA344816620 | USH2A | c.12122T>C (p.Ile4041Thr) | ClinVar dbSNP |
| 1 | g.215680321A>T | CA344816616 | USH2A | c.12122T>A (p.Ile4041Asn) | |
| 1 | g.215680322T>A | CA1393534 | USH2A | c.12121A>T (p.Ile4041Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680322T>C | CA344816623 | USH2A | c.12121A>G (p.Ile4041Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680322T>G | CA344816624 | USH2A | c.12121A>C (p.Ile4041Leu) | gnomAD v4 |
| 1 | g.215680322T= | CA1220376460 | USH2A | c.12121A= (p.Ile4041=) | |
| 1 | g.215680323G>A | CA423429966 | USH2A | c.12120C>T (p.Arg4040=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215680323G>C | CA423429967 | USH2A | c.12120C>G (p.Arg4040=) | |
| 1 | g.215680323G= | CA1220376465 | USH2A | c.12120C= (p.Arg4040=) | |
| 1 | g.215680323G>T | CA423429968 | USH2A | c.12120C>A (p.Arg4040=) | ClinVar dbSNP gnomAD v2 |
| 1 | g.215680324C>A | CA344816627 | USH2A | c.12119G>T (p.Arg4040Leu) | |
| 1 | g.215680324C= | CA1220376467 | USH2A | c.12119G= (p.Arg4040=) | |
| 1 | g.215680324C>G | CA344816628 | USH2A | c.12119G>C (p.Arg4040Pro) | |
| 1 | g.215680324C>T | CA344816630 | USH2A | c.12119G>A (p.Arg4040His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215680325del | CA2574132943 | USH2A | c.12118del (p.Arg4040AlafsTer14) | |
| 1 | g.215680325G>A | CA1393535 | USH2A | c.12118C>T (p.Arg4040Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215680325G>C | CA344816633 | USH2A | c.12118C>G (p.Arg4040Gly) | |
| 1 | g.215680325G= | CA1143723191 | USH2A | c.12118C= (p.Arg4040=) | |
| 1 | g.215680325G>T | CA344816635 | USH2A | c.12118C>A (p.Arg4040Ser) | |
| 1 | g.215680326A= | CA1220376470 | USH2A | c.12117T= (p.Tyr4039=) | |
| 1 | g.215680326A>C | CA344816637 | USH2A | c.12117T>G (p.Tyr4039Ter) | |
| 1 | g.215680326A>G | CA423429970 | USH2A | c.12117T>C (p.Tyr4039=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680326A>T | CA344816638 | USH2A | c.12117T>A (p.Tyr4039Ter) | |
| 1 | g.215680327T>A | CA344816641 | USH2A | c.12116A>T (p.Tyr4039Phe) | |
| 1 | g.215680327T>C | CA344816640 | USH2A | c.12116A>G (p.Tyr4039Cys) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215680327T>G | CA344816639 | USH2A | c.12116A>C (p.Tyr4039Ser) | |
| 1 | g.215680327T= | CA1220375658 | USH2A | c.12116A= (p.Tyr4039=) | |
| 1 | g.215680328A>C | CA344816643 | USH2A | c.12115T>G (p.Tyr4039Asp) | |
| 1 | g.215680328A>G | CA344816644 | USH2A | c.12115T>C (p.Tyr4039His) | |
| 1 | g.215680328A>T | CA344816645 | USH2A | c.12115T>A (p.Tyr4039Asn) | |
| 1 | g.215680328_215680329delinsAT | CA1220375664 | USH2A | c.12114_12115delinsAT (p.Thr4038=) | |
| 1 | g.215680329del | CA915942029 | USH2A | c.12114del (p.Tyr4039IlefsTer15) | ClinVar dbSNP |
| 1 | g.215680329T>A | CA423429971 | USH2A | c.12114A>T (p.Thr4038=) | gnomAD v4 |
| 1 | g.215680329T>C | CA37358104 | USH2A | c.12114A>G (p.Thr4038=) | dbSNP |
| 1 | g.215680329T>G | CA423429972 | USH2A | c.12114A>C (p.Thr4038=) | |
| 1 | g.215680329T= | CA1220375678 | USH2A | c.12114A= (p.Thr4038=) | |
| 1 | g.215680330G>A | CA344816648 | USH2A | c.12113C>T (p.Thr4038Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215680330G>C | CA344816649 | USH2A | c.12113C>G (p.Thr4038Arg) | |
| 1 | g.215680330G= | CA1220375684 | USH2A | c.12113C= (p.Thr4038=) | |
| 1 | g.215680330G>T | CA344816651 | USH2A | c.12113C>A (p.Thr4038Lys) | |
| 1 | g.215680331T>A | CA344816653 | USH2A | c.12112A>T (p.Thr4038Ser) | |
| 1 | g.215680331T>C | CA1393536 | USH2A | c.12112A>G (p.Thr4038Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680331T>G | CA344816656 | USH2A | c.12112A>C (p.Thr4038Pro) | |
| 1 | g.215680331T= | CA1220375685 | USH2A | c.12112A= (p.Thr4038=) | |
| 1 | g.215680332T>A | CA423429973 | USH2A | c.12111A>T (p.Thr4037=) | |
| 1 | g.215680332T>C | CA423429974 | USH2A | c.12111A>G (p.Thr4037=) | |
| 1 | g.215680332T>G | CA423429975 | USH2A | c.12111A>C (p.Thr4037=) | |
| 1 | g.215680333G>A | CA344816657 | USH2A | c.12110C>T (p.Thr4037Ile) | gnomAD v4 |
| 1 | g.215680333G>C | CA344816658 | USH2A | c.12110C>G (p.Thr4037Arg) | |
| 1 | g.215680333G>T | CA344816659 | USH2A | c.12110C>A (p.Thr4037Lys) | COSMIC COSMIC |
| 1 | g.215680334T>A | CA1393537 | USH2A | c.12109A>T (p.Thr4037Ser) | dbSNP ExAC gnomAD v2 |
| 1 | g.215680334T>C | CA344816661 | USH2A | c.12109A>G (p.Thr4037Ala) | |
| 1 | g.215680334T>G | CA344816660 | USH2A | c.12109A>C (p.Thr4037Pro) | ClinVar dbSNP |
| 1 | g.215680334T= | CA1220375692 | USH2A | c.12109A= (p.Thr4037=) | |
| 1 | g.215680335G>A | CA423429976 | USH2A | c.12108C>T (p.Phe4036=) | |
| 1 | g.215680335G>C | CA344816664 | USH2A | c.12108C>G (p.Phe4036Leu) | |
| 1 | g.215680335G>T | CA344816666 | USH2A | c.12108C>A (p.Phe4036Leu) | |
| 1 | g.215680336A>C | CA344816667 | USH2A | c.12107T>G (p.Phe4036Cys) | |
| 1 | g.215680336A>G | CA344816668 | USH2A | c.12107T>C (p.Phe4036Ser) | |
| 1 | g.215680336A>T | CA344816669 | USH2A | c.12107T>A (p.Phe4036Tyr) | |
| 1 | g.215680337A= | CA1148482154 | USH2A | c.12106T= (p.Phe4036=) | |
| 1 | g.215680337A>C | CA344816671 | USH2A | c.12106T>G (p.Phe4036Val) | |
| 1 | g.215680337A>G | CA1393538 | USH2A | c.12106T>C (p.Phe4036Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680337A>T | CA344816674 | USH2A | c.12106T>A (p.Phe4036Ile) | |
| 1 | g.215680338T>A | CA423429977 | USH2A | c.12105A>T (p.Pro4035=) | |
| 1 | g.215680338T>C | CA423429978 | USH2A | c.12105A>G (p.Pro4035=) | ClinVar gnomAD v4 |
| 1 | g.215680338T>G | CA423429979 | USH2A | c.12105A>C (p.Pro4035=) | |
| 1 | g.215680339G>A | CA344816677 | USH2A | c.12104C>T (p.Pro4035Leu) | ClinVar gnomAD v4 |
| 1 | g.215680339G>C | CA344816675 | USH2A | c.12104C>G (p.Pro4035Arg) | COSMIC COSMIC |
| 1 | g.215680339G>T | CA344816676 | USH2A | c.12104C>A (p.Pro4035Gln) | |
| 1 | g.215680340G>A | CA344816678 | USH2A | c.12103C>T (p.Pro4035Ser) | gnomAD v4 |
| 1 | g.215680340G>C | CA344816679 | USH2A | c.12103C>G (p.Pro4035Ala) | gnomAD v4 |
| 1 | g.215680340G>T | CA344816680 | USH2A | c.12103C>A (p.Pro4035Thr) | |
| 1 | g.215680341T>A | CA344816681 | USH2A | c.12102A>T (p.Glu4034Asp) | |
| 1 | g.215680341T>C | CA423429980 | USH2A | c.12102A>G (p.Glu4034=) | |
| 1 | g.215680341T>G | CA344816682 | USH2A | c.12102A>C (p.Glu4034Asp) | |
| 1 | g.215680342T>A | CA344816685 | USH2A | c.12101A>T (p.Glu4034Val) | |
| 1 | g.215680342T>C | CA344816683 | USH2A | c.12101A>G (p.Glu4034Gly) | |
| 1 | g.215680342T>G | CA344816684 | USH2A | c.12101A>C (p.Glu4034Ala) | |
| 1 | g.215680343C>A | CA344816686 | USH2A | c.12100G>T (p.Glu4034Ter) | ClinVar dbSNP |
| 1 | g.215680343C= | CA1220375702 | USH2A | c.12100G= (p.Glu4034=) | |
| 1 | g.215680343C>G | CA344816687 | USH2A | c.12100G>C (p.Glu4034Gln) | |
| 1 | g.215680343C>T | CA353784 | USH2A | c.12100G>A (p.Glu4034Lys) | ClinVar dbSNP |
| 1 | g.215680344T>A | CA344816688 | USH2A | c.12099A>T (p.Leu4033Phe) | |
| 1 | g.215680344T>C | CA423429981 | USH2A | c.12099A>G (p.Leu4033=) | |
| 1 | g.215680344T>G | CA344816689 | USH2A | c.12099A>C (p.Leu4033Phe) | gnomAD v4 |
| 1 | g.215680345A>C | CA344816690 | USH2A | c.12098T>G (p.Leu4033Ter) | |
| 1 | g.215680345A>G | CA344816691 | USH2A | c.12098T>C (p.Leu4033Ser) | |
| 1 | g.215680345A>T | CA344816692 | USH2A | c.12098T>A (p.Leu4033Ter) | |
| 1 | g.215680346A>C | CA344816693 | USH2A | c.12097T>G (p.Leu4033Val) | |
| 1 | g.215680346A>G | CA423429982 | USH2A | c.12097T>C (p.Leu4033=) | |
| 1 | g.215680346A>T | CA344816694 | USH2A | c.12097T>A (p.Leu4033Ile) | |
| 1 | g.215680347C>A | CA423429984 | USH2A | c.12096G>T (p.Gly4032=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215680347C= | CA1220375712 | USH2A | c.12096G= (p.Gly4032=) | |
| 1 | g.215680347C>G | CA423429985 | USH2A | c.12096G>C (p.Gly4032=) | |
| 1 | g.215680347C>T | CA423429983 | USH2A | c.12096G>A (p.Gly4032=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215680348C>A | CA10581636 | USH2A | c.12095G>T (p.Gly4032Val) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215680348C= | CA1220375719 | USH2A | c.12095G= (p.Gly4032=) | |
| 1 | g.215680348C>G | CA344816695 | USH2A | c.12095G>C (p.Gly4032Ala) | |
| 1 | g.215680348C>T | CA344816696 | USH2A | c.12095G>A (p.Gly4032Glu) | gnomAD v4 COSMIC COSMIC |
| 1 | g.215680349C>A | CA344816697 | USH2A | c.12094G>T (p.Gly4032Trp) | |
| 1 | g.215680349C= | CA1220375725 | USH2A | c.12094G= (p.Gly4032=) | |
| 1 | g.215680349C>G | CA344816698 | USH2A | c.12094G>C (p.Gly4032Arg) | |
| 1 | g.215680349C>T | CA37358152 | USH2A | c.12094G>A (p.Gly4032Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680349_215680350delinsCG | CA1220375727 | USH2A | c.12093_12094delinsCG (p.Tyr4031=) | |
| 1 | g.215680350del | CA1139656552 | USH2A | c.12093del (p.Tyr4031Ter) | ClinVar dbSNP |
| 1 | g.215680350G>A | CA143281 | USH2A | c.12093C>T (p.Tyr4031=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215680350G>C | CA344816699 | USH2A | c.12093C>G (p.Tyr4031Ter) | |
| 1 | g.215680350G= | CA1140626531 | USH2A | c.12093C= (p.Tyr4031=) | |
| 1 | g.215680350G>T | CA344816700 | USH2A | c.12093C>A (p.Tyr4031Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215680351T>A | CA344816701 | USH2A | c.12092A>T (p.Tyr4031Phe) | |
| 1 | g.215680351T>C | CA1393539 | USH2A | c.12092A>G (p.Tyr4031Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680351T>G | CA344816702 | USH2A | c.12092A>C (p.Tyr4031Ser) | |
| 1 | g.215680351T= | CA1220375758 | USH2A | c.12092A= (p.Tyr4031=) | |
| 1 | g.215680352A= | CA1220375763 | USH2A | c.12091T= (p.Tyr4031=) | |
| 1 | g.215680352A>C | CA344816703 | USH2A | c.12091T>G (p.Tyr4031Asp) | dbSNP gnomAD v2 |
| 1 | g.215680352A>G | CA344816704 | USH2A | c.12091T>C (p.Tyr4031His) | |
| 1 | g.215680352A>T | CA344816705 | USH2A | c.12091T>A (p.Tyr4031Asn) | |
| 1 | g.215680353C>A | CA423429988 | USH2A | c.12090G>T (p.Leu4030=) | gnomAD v4 |
| 1 | g.215680353C= | CA1220375766 | USH2A | c.12090G= (p.Leu4030=) | |
| 1 | g.215680353C>G | CA423429986 | USH2A | c.12090G>C (p.Leu4030=) | ClinVar dbSNP |
| 1 | g.215680353C>T | CA423429987 | USH2A | c.12090G>A (p.Leu4030=) | ClinVar dbSNP |
| 1 | g.215680354A>C | CA344816706 | USH2A | c.12089T>G (p.Leu4030Arg) | |
| 1 | g.215680354A>G | CA344816707 | USH2A | c.12089T>C (p.Leu4030Pro) | |
| 1 | g.215680354A>T | CA344816708 | USH2A | c.12089T>A (p.Leu4030Gln) | |
| 1 | g.215680355G>A | CA182584 | USH2A | c.12088C>T (p.Leu4030=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680355G>C | CA1393540 | USH2A | c.12088C>G (p.Leu4030Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680355G= | CA1141810776 | USH2A | c.12088C= (p.Leu4030=) | |
| 1 | g.215680355G>T | CA344816709 | USH2A | c.12088C>A (p.Leu4030Met) | |
| 1 | g.215680356G>A | CA423429989 | USH2A | c.12087C>T (p.His4029=) | dbSNP |
| 1 | g.215680356G>C | CA344816710 | USH2A | c.12087C>G (p.His4029Gln) | |
| 1 | g.215680356G= | CA1220375779 | USH2A | c.12087C= (p.His4029=) | |
| 1 | g.215680356G>T | CA344816711 | USH2A | c.12087C>A (p.His4029Gln) | |
| 1 | g.215680357T>A | CA344816712 | USH2A | c.12086A>T (p.His4029Leu) | dbSNP gnomAD v4 |
| 1 | g.215680357T>C | CA344816713 | USH2A | c.12086A>G (p.His4029Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680357T>G | CA344816714 | USH2A | c.12086A>C (p.His4029Pro) | |
| 1 | g.215680357T= | CA1220375784 | USH2A | c.12086A= (p.His4029=) | |
| 1 | g.215680357dup | CA2586968207 | USH2A | c.12086dup (p.His4029GlnfsTer?) | ClinVar |
| 1 | g.215680358G>A | CA344816715 | USH2A | c.12085C>T (p.His4029Tyr) | gnomAD v4 |
| 1 | g.215680358G>C | CA344816716 | USH2A | c.12085C>G (p.His4029Asp) | |
| 1 | g.215680358G>T | CA344816717 | USH2A | c.12085C>A (p.His4029Asn) | |
| 1 | g.215680360del | CA2697554906 | USH2A | c.12085del (p.His4029ThrfsTer5) | ClinVar |
| 1 | g.215680359G>A | CA423429990 | USH2A | c.12084C>T (p.Ala4028=) | |
| 1 | g.215680359G>C | CA423429991 | USH2A | c.12084C>G (p.Ala4028=) | |
| 1 | g.215680359G>T | CA423429992 | USH2A | c.12084C>A (p.Ala4028=) | |
| 1 | g.215680360G>A | CA344816718 | USH2A | c.12083C>T (p.Ala4028Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680360G>C | CA344816719 | USH2A | c.12083C>G (p.Ala4028Gly) | |
| 1 | g.215680360G= | CA1220375789 | USH2A | c.12083C= (p.Ala4028=) | |
| 1 | g.215680360G>T | CA344816720 | USH2A | c.12083C>A (p.Ala4028Asp) | |
| 1 | g.215680361C>A | CA344816723 | USH2A | c.12082G>T (p.Ala4028Ser) | COSMIC COSMIC |
| 1 | g.215680361C>G | CA344816722 | USH2A | c.12082G>C (p.Ala4028Pro) | |
| 1 | g.215680361C>T | CA344816721 | USH2A | c.12082G>A (p.Ala4028Thr) | |
| 1 | g.215680362T>A | CA344816724 | USH2A | c.12081A>T (p.Gln4027His) | |
| 1 | g.215680362T>C | CA423429993 | USH2A | c.12081A>G (p.Gln4027=) | gnomAD v4 COSMIC COSMIC |
| 1 | g.215680362T>G | CA344816725 | USH2A | c.12081A>C (p.Gln4027His) | ClinVar gnomAD v4 |
| 1 | g.215680363T>A | CA344816726 | USH2A | c.12080A>T (p.Gln4027Leu) | |
| 1 | g.215680363T>C | CA37358161 | USH2A | c.12080A>G (p.Gln4027Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680363T>G | CA344816727 | USH2A | c.12080A>C (p.Gln4027Pro) | |
| 1 | g.215680363T= | CA1140316325 | USH2A | c.12080A= (p.Gln4027=) | |
| 1 | g.215680364G>A | CA270137 | USH2A | c.12079C>T (p.Gln4027Ter) | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.215680364G>C | CA344816728 | USH2A | c.12079C>G (p.Gln4027Glu) | |
| 1 | g.215680364G= | CA1144233404 | USH2A | c.12079C= (p.Gln4027=) | |
| 1 | g.215680364G>T | CA344816729 | USH2A | c.12079C>A (p.Gln4027Lys) | |
| 1 | g.215680365A>C | CA344816730 | USH2A | c.12078T>G (p.His4026Gln) | |
| 1 | g.215680365A>G | CA423429994 | USH2A | c.12078T>C (p.His4026=) | ClinVar gnomAD v4 |
| 1 | g.215680365A>T | CA344816731 | USH2A | c.12078T>A (p.His4026Gln) | |
| 1 | g.215680366T>A | CA344816732 | USH2A | c.12077A>T (p.His4026Leu) | |
| 1 | g.215680366T>C | CA344816733 | USH2A | c.12077A>G (p.His4026Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215680366T>G | CA344816734 | USH2A | c.12077A>C (p.His4026Pro) | |
| 1 | g.215680366T= | CA1220375806 | USH2A | c.12077A= (p.His4026=) | |
| 1 | g.215680367G>A | CA344816737 | USH2A | c.12076C>T (p.His4026Tyr) | |
| 1 | g.215680367G>C | CA344816736 | USH2A | c.12076C>G (p.His4026Asp) | |
| 1 | g.215680367G>T | CA344816735 | USH2A | c.12076C>A (p.His4026Asn) | |
| 1 | g.215680368G>A | CA423429995 | USH2A | c.12075C>T (p.Ser4025=) | |
| 1 | g.215680368G>C | CA344816738 | USH2A | c.12075C>G (p.Ser4025Arg) | |
| 1 | g.215680368G>T | CA344816739 | USH2A | c.12075C>A (p.Ser4025Arg) | |
| 1 | g.215680369C>A | CA344816740 | USH2A | c.12074G>T (p.Ser4025Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215680369C= | CA1220375808 | USH2A | c.12074G= (p.Ser4025=) | |
| 1 | g.215680369C>G | CA344816741 | USH2A | c.12074G>C (p.Ser4025Thr) | |
| 1 | g.215680369C>T | CA344816742 | USH2A | c.12074G>A (p.Ser4025Asn) | dbSNP |
| 1 | g.215680369_215680370del | CA2747717822 | USH2A | c.12073_12074del (p.Ser4025ProfsTer?) | |
| 1 | g.215680370T>A | CA344816743 | USH2A | c.12073A>T (p.Ser4025Cys) | |
| 1 | g.215680370T>C | CA344816744 | USH2A | c.12073A>G (p.Ser4025Gly) | dbSNP |
| 1 | g.215680370T>G | CA344816745 | USH2A | c.12073A>C (p.Ser4025Arg) |