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.215673953_215675415del | CA1139656543 | USH2A | c.12497_13811+148del | ClinVar |
| 1 | g.215675069_215675073del | CA2503862764 | USH2A | c.12838_12842del (p.Lys4280AlafsTer11) | |
| 1 | g.215675072T>A | CA344848806 | USH2A | c.12839A>T (p.Lys4280Ile) | |
| 1 | g.215675072T>C | CA344848812 | USH2A | c.12839A>G (p.Lys4280Arg) | |
| 1 | g.215675072T>G | CA344848809 | USH2A | c.12839A>C (p.Lys4280Thr) | COSMIC COSMIC |
| 1 | g.215675073T>A | CA344848815 | USH2A | c.12838A>T (p.Lys4280Ter) | |
| 1 | g.215675073T>C | CA344848816 | USH2A | c.12838A>G (p.Lys4280Glu) | |
| 1 | g.215675073T>G | CA344848817 | USH2A | c.12838A>C (p.Lys4280Gln) | |
| 1 | g.215675074T>A | CA344848818 | USH2A | c.12837A>T (p.Gln4279His) | |
| 1 | g.215675074T>C | CA423428284 | USH2A | c.12837A>G (p.Gln4279=) | dbSNP |
| 1 | g.215675074T>G | CA344848819 | USH2A | c.12837A>C (p.Gln4279His) | |
| 1 | g.215675074T= | CA1220373795 | USH2A | c.12837A= (p.Gln4279=) | |
| 1 | g.215675075T>A | CA344848820 | USH2A | c.12836A>T (p.Gln4279Leu) | |
| 1 | g.215675075T>C | CA344848821 | USH2A | c.12836A>G (p.Gln4279Arg) | |
| 1 | g.215675075T>G | CA1393400 | USH2A | c.12836A>C (p.Gln4279Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215675075T= | CA1220373796 | USH2A | c.12836A= (p.Gln4279=) | |
| 1 | g.215675076G>A | CA344848825 | USH2A | c.12835C>T (p.Gln4279Ter) | gnomAD v4 COSMIC COSMIC |
| 1 | g.215675076G>C | CA344848828 | USH2A | c.12835C>G (p.Gln4279Glu) | |
| 1 | g.215675076G>T | CA344848831 | USH2A | c.12835C>A (p.Gln4279Lys) | |
| 1 | g.215675077G>A | CA423428285 | USH2A | c.12834C>T (p.Pro4278=) | ClinVar COSMIC COSMIC |
| 1 | g.215675077G>C | CA423428286 | USH2A | c.12834C>G (p.Pro4278=) | |
| 1 | g.215675077G>T | CA423428287 | USH2A | c.12834C>A (p.Pro4278=) | |
| 1 | g.215675078G>A | CA344848846 | USH2A | c.12833C>T (p.Pro4278Leu) | gnomAD v4 |
| 1 | g.215675078G>C | CA344848842 | USH2A | c.12833C>G (p.Pro4278Arg) | |
| 1 | g.215675078G>T | CA344848839 | USH2A | c.12833C>A (p.Pro4278His) | |
| 1 | g.215675079G>A | CA344848851 | USH2A | c.12832C>T (p.Pro4278Ser) | gnomAD v4 |
| 1 | g.215675079G>C | CA344848855 | USH2A | c.12832C>G (p.Pro4278Ala) | |
| 1 | g.215675079G>T | CA344848852 | USH2A | c.12832C>A (p.Pro4278Thr) | |
| 1 | g.215675080A>C | CA344848858 | USH2A | c.12831T>G (p.Asn4277Lys) | |
| 1 | g.215675080A>G | CA423428290 | USH2A | c.12831T>C (p.Asn4277=) | |
| 1 | g.215675080A>T | CA344848859 | USH2A | c.12831T>A (p.Asn4277Lys) | |
| 1 | g.215675081T>A | CA344848860 | USH2A | c.12830A>T (p.Asn4277Ile) | |
| 1 | g.215675081T>C | CA344848861 | USH2A | c.12830A>G (p.Asn4277Ser) | |
| 1 | g.215675081T>G | CA344848862 | USH2A | c.12830A>C (p.Asn4277Thr) | |
| 1 | g.215675082T>A | CA344848863 | USH2A | c.12829A>T (p.Asn4277Tyr) | |
| 1 | g.215675082T>C | CA344848864 | USH2A | c.12829A>G (p.Asn4277Asp) | |
| 1 | g.215675082T>G | CA344848866 | USH2A | c.12829A>C (p.Asn4277His) | |
| 1 | g.215675083C>A | CA344848868 | USH2A | c.12828G>T (p.Met4276Ile) | |
| 1 | g.215675083C= | CA1220373797 | USH2A | c.12828G= (p.Met4276=) | |
| 1 | g.215675083C>G | CA344848871 | USH2A | c.12828G>C (p.Met4276Ile) | |
| 1 | g.215675083C>T | CA344848881 | USH2A | c.12828G>A (p.Met4276Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675084A= | CA1220373798 | USH2A | c.12827T= (p.Met4276=) | |
| 1 | g.215675084A>C | CA344848896 | USH2A | c.12827T>G (p.Met4276Arg) | |
| 1 | g.215675084A>G | CA344848887 | USH2A | c.12827T>C (p.Met4276Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675084A>T | CA344848885 | USH2A | c.12827T>A (p.Met4276Lys) | |
| 1 | g.215675085T>A | CA344848897 | USH2A | c.12826A>T (p.Met4276Leu) | |
| 1 | g.215675085T>C | CA344848898 | USH2A | c.12826A>G (p.Met4276Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675085T>G | CA344848900 | USH2A | c.12826A>C (p.Met4276Leu) | |
| 1 | g.215675085T= | CA1220373799 | USH2A | c.12826A= (p.Met4276=) | |
| 1 | g.215675086A>C | CA423428296 | USH2A | c.12825T>G (p.Ser4275=) | |
| 1 | g.215675086A>G | CA423428297 | USH2A | c.12825T>C (p.Ser4275=) | ClinVar dbSNP |
| 1 | g.215675086A>T | CA423428298 | USH2A | c.12825T>A (p.Ser4275=) | gnomAD v4 |
| 1 | g.215675087G>A | CA344848901 | USH2A | c.12824C>T (p.Ser4275Phe) | |
| 1 | g.215675087G>C | CA344848904 | USH2A | c.12824C>G (p.Ser4275Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675087G= | CA1220373800 | USH2A | c.12824C= (p.Ser4275=) | |
| 1 | g.215675087G>T | CA344848909 | USH2A | c.12824C>A (p.Ser4275Tyr) | |
| 1 | g.215675088A= | CA1141629126 | USH2A | c.12823T= (p.Ser4275=) | |
| 1 | g.215675088A>C | CA344848912 | USH2A | c.12823T>G (p.Ser4275Ala) | |
| 1 | g.215675088A>G | CA344848920 | USH2A | c.12823T>C (p.Ser4275Pro) | |
| 1 | g.215675088A>T | CA1393401 | USH2A | c.12823T>A (p.Ser4275Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675089A>C | CA423428302 | USH2A | c.12822T>G (p.Val4274=) | |
| 1 | g.215675089A>G | CA423428301 | USH2A | c.12822T>C (p.Val4274=) | |
| 1 | g.215675089A>T | CA423428300 | USH2A | c.12822T>A (p.Val4274=) | |
| 1 | g.215675090A>C | CA344848925 | USH2A | c.12821T>G (p.Val4274Gly) | |
| 1 | g.215675090A>G | CA344848927 | USH2A | c.12821T>C (p.Val4274Ala) | |
| 1 | g.215675090A>T | CA344848928 | USH2A | c.12821T>A (p.Val4274Asp) | |
| 1 | g.215675091C>A | CA344848934 | USH2A | c.12820G>T (p.Val4274Phe) | |
| 1 | g.215675091C= | CA1220373801 | USH2A | c.12820G= (p.Val4274=) | |
| 1 | g.215675091C>G | CA344848931 | USH2A | c.12820G>C (p.Val4274Leu) | |
| 1 | g.215675091C>T | CA1393402 | USH2A | c.12820G>A (p.Val4274Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675091_215675093delinsCAT | CA1220373802 | USH2A | c.12818_12820delinsATG (p.Tyr4273=) | |
| 1 | g.215675092A= | CA1220373803 | USH2A | c.12819T= (p.Tyr4273=) | |
| 1 | g.215675092A>C | CA344848936 | USH2A | c.12819T>G (p.Tyr4273Ter) | |
| 1 | g.215675092A>G | CA423428308 | USH2A | c.12819T>C (p.Tyr4273=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675092A>T | CA344848937 | USH2A | c.12819T>A (p.Tyr4273Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215675093_215675094del | CA645537385 | USH2A | c.12818_12819del (p.Tyr4273CysfsTer19) | dbSNP COSMIC |
| 1 | g.215675093T>A | CA344848939 | USH2A | c.12818A>T (p.Tyr4273Phe) | |
| 1 | g.215675093T>C | CA1393403 | USH2A | c.12818A>G (p.Tyr4273Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675093T>G | CA344848941 | USH2A | c.12818A>C (p.Tyr4273Ser) | |
| 1 | g.215675093T= | CA1220373804 | USH2A | c.12818A= (p.Tyr4273=) | |
| 1 | g.215675094A= | CA1141153637 | USH2A | c.12817T= (p.Tyr4273=) | |
| 1 | g.215675094A>C | CA344848944 | USH2A | c.12817T>G (p.Tyr4273Asp) | |
| 1 | g.215675094A>G | CA182734 | USH2A | c.12817T>C (p.Tyr4273His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675094A>T | CA344848947 | USH2A | c.12817T>A (p.Tyr4273Asn) | |
| 1 | g.215675095G>A | CA423428314 | USH2A | c.12816C>T (p.Ser4272=) | |
| 1 | g.215675095G>C | CA423428316 | USH2A | c.12816C>G (p.Ser4272=) | ClinVar gnomAD v4 |
| 1 | g.215675095G>T | CA423428315 | USH2A | c.12816C>A (p.Ser4272=) | |
| 1 | g.215675096G>A | CA1393404 | USH2A | c.12815C>T (p.Ser4272Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675096G>C | CA344848951 | USH2A | c.12815C>G (p.Ser4272Cys) | |
| 1 | g.215675096G= | CA1220373805 | USH2A | c.12815C= (p.Ser4272=) | |
| 1 | g.215675096G>T | CA344848961 | USH2A | c.12815C>A (p.Ser4272Tyr) | |
| 1 | g.215675097del | CA2650500592 | USH2A | c.12814del (p.Ser4272ProfsTer5) | gnomAD v4 |
| 1 | g.215675097A>C | CA344848963 | USH2A | c.12814T>G (p.Ser4272Ala) | gnomAD v4 |
| 1 | g.215675097A>G | CA344848964 | USH2A | c.12814T>C (p.Ser4272Pro) | |
| 1 | g.215675097A>T | CA344848967 | USH2A | c.12814T>A (p.Ser4272Thr) | |
| 1 | g.215675098T>A | CA423428321 | USH2A | c.12813A>T (p.Ile4271=) | |
| 1 | g.215675098T>C | CA344848970 | USH2A | c.12813A>G (p.Ile4271Met) | gnomAD v4 |
| 1 | g.215675098T>G | CA423428324 | USH2A | c.12813A>C (p.Ile4271=) | |
| 1 | g.215675099A>C | CA344848978 | USH2A | c.12812T>G (p.Ile4271Arg) | |
| 1 | g.215675099A>G | CA344848979 | USH2A | c.12812T>C (p.Ile4271Thr) | |
| 1 | g.215675099A>T | CA344848980 | USH2A | c.12812T>A (p.Ile4271Lys) | |
| 1 | g.215675100T>A | CA344848981 | USH2A | c.12811A>T (p.Ile4271Leu) | |
| 1 | g.215675100T>C | CA37412898 | USH2A | c.12811A>G (p.Ile4271Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675100T>G | CA344848983 | USH2A | c.12811A>C (p.Ile4271Leu) | |
| 1 | g.215675100T= | CA1220373806 | USH2A | c.12811A= (p.Ile4271=) | |
| 1 | g.215675101C>A | CA423428331 | USH2A | c.12810G>T (p.Val4270=) | |
| 1 | g.215675101C= | CA1220373807 | USH2A | c.12810G= (p.Val4270=) | |
| 1 | g.215675101C>G | CA423428332 | USH2A | c.12810G>C (p.Val4270=) | |
| 1 | g.215675101C>T | CA423428333 | USH2A | c.12810G>A (p.Val4270=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675103_215675104del | CA2580611234 | USH2A | c.12809_12810del (p.Val4270AspfsTer22) | ClinVar |
| 1 | g.215675102A>C | CA344848985 | USH2A | c.12809T>G (p.Val4270Gly) | gnomAD v4 |
| 1 | g.215675102A>G | CA344848986 | USH2A | c.12809T>C (p.Val4270Ala) | |
| 1 | g.215675102A>T | CA344848990 | USH2A | c.12809T>A (p.Val4270Glu) | |
| 1 | g.215675103C>A | CA344848993 | USH2A | c.12808G>T (p.Val4270Leu) | |
| 1 | g.215675103C>G | CA344848996 | USH2A | c.12808G>C (p.Val4270Leu) | |
| 1 | g.215675103C>T | CA344849001 | USH2A | c.12808G>A (p.Val4270Met) | gnomAD v4 |
| 1 | g.215675104A>C | CA423428338 | USH2A | c.12807T>G (p.Pro4269=) | |
| 1 | g.215675104A>G | CA423428339 | USH2A | c.12807T>C (p.Pro4269=) | |
| 1 | g.215675104A>T | CA423428340 | USH2A | c.12807T>A (p.Pro4269=) | COSMIC COSMIC |
| 1 | g.215675105G>A | CA344849008 | USH2A | c.12806C>T (p.Pro4269Leu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215675105G>C | CA344849006 | USH2A | c.12806C>G (p.Pro4269Arg) | ClinVar dbSNP |
| 1 | g.215675105G= | CA1220373808 | USH2A | c.12806C= (p.Pro4269=) | |
| 1 | g.215675105G>T | CA344849004 | USH2A | c.12806C>A (p.Pro4269His) | ClinVar |
| 1 | g.215675106G>A | CA1393405 | USH2A | c.12805C>T (p.Pro4269Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675106G>C | CA344849016 | USH2A | c.12805C>G (p.Pro4269Ala) | |
| 1 | g.215675106G= | CA1220373809 | USH2A | c.12805C= (p.Pro4269=) | |
| 1 | g.215675106G>T | CA344849012 | USH2A | c.12805C>A (p.Pro4269Thr) | |
| 1 | g.215675107T>A | CA423428349 | USH2A | c.12804A>T (p.Pro4268=) | |
| 1 | g.215675107T>C | CA423428351 | USH2A | c.12804A>G (p.Pro4268=) | COSMIC COSMIC |
| 1 | g.215675107T>G | CA423428352 | USH2A | c.12804A>C (p.Pro4268=) | |
| 1 | g.215675108G>A | CA344849017 | USH2A | c.12803C>T (p.Pro4268Leu) | |
| 1 | g.215675108G>C | CA344849027 | USH2A | c.12803C>G (p.Pro4268Arg) | |
| 1 | g.215675108G>T | CA344849018 | USH2A | c.12803C>A (p.Pro4268Gln) | |
| 1 | g.215675109G>A | CA344849030 | USH2A | c.12802C>T (p.Pro4268Ser) | COSMIC |
| 1 | g.215675109G>C | CA344849032 | USH2A | c.12802C>G (p.Pro4268Ala) | COSMIC COSMIC |
| 1 | g.215675109G>T | CA344849031 | USH2A | c.12802C>A (p.Pro4268Thr) | |
| 1 | g.215675115_215675116dup | CA2580611236 | USH2A | c.12801_12802dup (p.Pro4268LeufsTer4) | ClinVar dbSNP |
| 1 | g.215675110A= | CA1148246880 | USH2A | c.12801T= (p.Ser4267=) | |
| 1 | g.215675110A>C | CA1393406 | USH2A | c.12801T>G (p.Ser4267=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675110A>G | CA423428357 | USH2A | c.12801T>C (p.Ser4267=) | |
| 1 | g.215675110A>T | CA423428358 | USH2A | c.12801T>A (p.Ser4267=) | |
| 1 | g.215675111G>A | CA344849033 | USH2A | c.12800C>T (p.Ser4267Phe) | |
| 1 | g.215675111G>C | CA344849034 | USH2A | c.12800C>G (p.Ser4267Cys) | COSMIC COSMIC |
| 1 | g.215675111G>T | CA344849035 | USH2A | c.12800C>A (p.Ser4267Tyr) | |
| 1 | g.215675112A>C | CA344849037 | USH2A | c.12799T>G (p.Ser4267Ala) | |
| 1 | g.215675112A>G | CA344849042 | USH2A | c.12799T>C (p.Ser4267Pro) | |
| 1 | g.215675112A>T | CA344849043 | USH2A | c.12799T>A (p.Ser4267Thr) | |
| 1 | g.215675113G>A | CA423428367 | USH2A | c.12798C>T (p.Leu4266=) | |
| 1 | g.215675113G>C | CA423428368 | USH2A | c.12798C>G (p.Leu4266=) | ClinVar gnomAD v4 |
| 1 | g.215675113G>T | CA423428369 | USH2A | c.12798C>A (p.Leu4266=) | |
| 1 | g.215675114A= | CA1220373810 | USH2A | c.12797T= (p.Leu4266=) | |
| 1 | g.215675114A>C | CA344849049 | USH2A | c.12797T>G (p.Leu4266Arg) | dbSNP |
| 1 | g.215675114A>G | CA344849051 | USH2A | c.12797T>C (p.Leu4266Pro) | |
| 1 | g.215675114A>T | CA344849052 | USH2A | c.12797T>A (p.Leu4266His) | |
| 1 | g.215675115G>A | CA344849061 | USH2A | c.12796C>T (p.Leu4266Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675115G>C | CA344849058 | USH2A | c.12796C>G (p.Leu4266Val) | |
| 1 | g.215675115G= | CA1220373811 | USH2A | c.12796C= (p.Leu4266=) | |
| 1 | g.215675115G>T | CA344849055 | USH2A | c.12796C>A (p.Leu4266Ile) | |
| 1 | g.215675116A= | CA1220373812 | USH2A | c.12795T= (p.Gly4265=) | |
| 1 | g.215675116A>C | CA423428375 | USH2A | c.12795T>G (p.Gly4265=) | |
| 1 | g.215675116A>G | CA423428376 | USH2A | c.12795T>C (p.Gly4265=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675116A>T | CA423428373 | USH2A | c.12795T>A (p.Gly4265=) | |
| 1 | g.215675116_215675117delinsAC | CA1220373813 | USH2A | c.12794_12795delinsGT (p.Gly4265=) | |
| 1 | g.215675117C>A | CA1393408 | USH2A | c.12794G>T (p.Gly4265Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675117C= | CA1220373814 | USH2A | c.12794G= (p.Gly4265=) | |
| 1 | g.215675117C>G | CA344849067 | USH2A | c.12794G>C (p.Gly4265Ala) | |
| 1 | g.215675117C>T | CA1393407 | USH2A | c.12794G>A (p.Gly4265Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675118del | CA915942028 | USH2A | c.12794del (p.Gly4265ValfsTer6) | ClinVar dbSNP |
| 1 | g.215675118C>A | CA344849077 | USH2A | c.12793G>T (p.Gly4265Cys) | COSMIC COSMIC |
| 1 | g.215675118C>G | CA344849079 | USH2A | c.12793G>C (p.Gly4265Arg) | gnomAD v4 |
| 1 | g.215675118C>T | CA344849083 | USH2A | c.12793G>A (p.Gly4265Ser) | dbSNP gnomAD v4 |
| 1 | g.215675120_215675122del | CA2747717660 | USH2A | c.12791_12793del (p.Glu4264del) | |
| 1 | g.215675119T>A | CA344849086 | USH2A | c.12792A>T (p.Glu4264Asp) | COSMIC COSMIC |
| 1 | g.215675119T>C | CA37412913 | USH2A | c.12792A>G (p.Glu4264=) | ClinVar dbSNP |
| 1 | g.215675119T>G | CA344849088 | USH2A | c.12792A>C (p.Glu4264Asp) | |
| 1 | g.215675119T= | CA1220373815 | USH2A | c.12792A= (p.Glu4264=) | |
| 1 | g.215675120T>A | CA344849092 | USH2A | c.12791A>T (p.Glu4264Val) | |
| 1 | g.215675120T>C | CA37412916 | USH2A | c.12791A>G (p.Glu4264Gly) | dbSNP gnomAD v4 |
| 1 | g.215675120T>G | CA344849097 | USH2A | c.12791A>C (p.Glu4264Ala) | |
| 1 | g.215675120T= | CA1220373816 | USH2A | c.12791A= (p.Glu4264=) | |
| 1 | g.215675121C>A | CA344849103 | USH2A | c.12790G>T (p.Glu4264Ter) | |
| 1 | g.215675121C= | CA1143440813 | USH2A | c.12790G= (p.Glu4264=) | |
| 1 | g.215675121C>G | CA344849102 | USH2A | c.12790G>C (p.Glu4264Gln) | |
| 1 | g.215675121C>T | CA1393409 | USH2A | c.12790G>A (p.Glu4264Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215675122T>A | CA423428390 | USH2A | c.12789A>T (p.Pro4263=) | |
| 1 | g.215675122T>C | CA1393410 | USH2A | c.12789A>G (p.Pro4263=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675122T>G | CA423428391 | USH2A | c.12789A>C (p.Pro4263=) | |
| 1 | g.215675122T= | CA1220373817 | USH2A | c.12789A= (p.Pro4263=) | |
| 1 | g.215675123G>A | CA344849108 | USH2A | c.12788C>T (p.Pro4263Leu) | |
| 1 | g.215675123G>C | CA344849112 | USH2A | c.12788C>G (p.Pro4263Arg) | |
| 1 | g.215675123G>T | CA344849115 | USH2A | c.12788C>A (p.Pro4263Gln) | |
| 1 | g.215675124G>A | CA344849118 | USH2A | c.12787C>T (p.Pro4263Ser) | |
| 1 | g.215675124G>C | CA344849119 | USH2A | c.12787C>G (p.Pro4263Ala) | |
| 1 | g.215675124G>T | CA344849121 | USH2A | c.12787C>A (p.Pro4263Thr) | |
| 1 | g.215675125A>C | CA423428396 | USH2A | c.12786T>G (p.Pro4262=) | |
| 1 | g.215675125A>G | CA423428399 | USH2A | c.12786T>C (p.Pro4262=) | COSMIC COSMIC |
| 1 | g.215675125A>T | CA423428400 | USH2A | c.12786T>A (p.Pro4262=) | |
| 1 | g.215675126G>A | CA344849123 | USH2A | c.12785C>T (p.Pro4262Leu) | gnomAD v4 |
| 1 | g.215675126G>C | CA344849125 | USH2A | c.12785C>G (p.Pro4262Arg) | |
| 1 | g.215675126G>T | CA344849126 | USH2A | c.12785C>A (p.Pro4262His) | |
| 1 | g.215675127G>A | CA344849128 | USH2A | c.12784C>T (p.Pro4262Ser) | |
| 1 | g.215675127G>C | CA344849130 | USH2A | c.12784C>G (p.Pro4262Ala) | |
| 1 | g.215675127G>T | CA344849132 | USH2A | c.12784C>A (p.Pro4262Thr) | |
| 1 | g.215675128T>A | CA423428406 | USH2A | c.12783A>T (p.Ala4261=) | |
| 1 | g.215675128T>C | CA423428407 | USH2A | c.12783A>G (p.Ala4261=) | dbSNP gnomAD v4 |
| 1 | g.215675128T>G | CA423428409 | USH2A | c.12783A>C (p.Ala4261=) | |
| 1 | g.215675128T= | CA1220373818 | USH2A | c.12783A= (p.Ala4261=) | |
| 1 | g.215675129G>A | CA344849135 | USH2A | c.12782C>T (p.Ala4261Val) | ClinVar |
| 1 | g.215675129G>C | CA344849139 | USH2A | c.12782C>G (p.Ala4261Gly) | |
| 1 | g.215675129G>T | CA344849136 | USH2A | c.12782C>A (p.Ala4261Glu) | |
| 1 | g.215675130C>A | CA344849142 | USH2A | c.12781G>T (p.Ala4261Ser) | |
| 1 | g.215675130C>G | CA344849150 | USH2A | c.12781G>C (p.Ala4261Pro) | |
| 1 | g.215675130C>T | CA344849153 | USH2A | c.12781G>A (p.Ala4261Thr) | ClinVar gnomAD v4 |
| 1 | g.215675131T>A | CA344849154 | USH2A | c.12780A>T (p.Gln4260His) | |
| 1 | g.215675131T>C | CA423428419 | USH2A | c.12780A>G (p.Gln4260=) | dbSNP gnomAD v2 |
| 1 | g.215675131T>G | CA344849156 | USH2A | c.12780A>C (p.Gln4260His) | |
| 1 | g.215675131T= | CA1220373819 | USH2A | c.12780A= (p.Gln4260=) | |
| 1 | g.215675132T>A | CA344849158 | USH2A | c.12779A>T (p.Gln4260Leu) | |
| 1 | g.215675132T>C | CA344849159 | USH2A | c.12779A>G (p.Gln4260Arg) | |
| 1 | g.215675132T>G | CA344849161 | USH2A | c.12779A>C (p.Gln4260Pro) | |
| 1 | g.215675133G>A | CA344849164 | USH2A | c.12778C>T (p.Gln4260Ter) | |
| 1 | g.215675133G>C | CA344849165 | USH2A | c.12778C>G (p.Gln4260Glu) | gnomAD v4 |
| 1 | g.215675133G>T | CA344849166 | USH2A | c.12778C>A (p.Gln4260Lys) | |
| 1 | g.215675134C>A | CA344849168 | USH2A | c.12777G>T (p.Leu4259Phe) | gnomAD v4 |
| 1 | g.215675134C>G | CA344849167 | USH2A | c.12777G>C (p.Leu4259Phe) | |
| 1 | g.215675134C>T | CA423428425 | USH2A | c.12777G>A (p.Leu4259=) | gnomAD v4 |
| 1 | g.215675135A= | CA1220373820 | USH2A | c.12776T= (p.Leu4259=) | |
| 1 | g.215675135A>C | CA344849170 | USH2A | c.12776T>G (p.Leu4259Trp) | |
| 1 | g.215675135A>G | CA37412931 | USH2A | c.12776T>C (p.Leu4259Ser) | dbSNP |
| 1 | g.215675135A>T | CA344849172 | USH2A | c.12776T>A (p.Leu4259Ter) | |
| 1 | g.215675136A>C | CA344849176 | USH2A | c.12775T>G (p.Leu4259Val) | |
| 1 | g.215675136A>G | CA423428430 | USH2A | c.12775T>C (p.Leu4259=) | |
| 1 | g.215675136A>T | CA344849179 | USH2A | c.12775T>A (p.Leu4259Met) | |
| 1 | g.215675137T>A | CA423427780 | USH2A | c.12774A>T (p.Thr4258=) | |
| 1 | g.215675137T>C | CA423427791 | USH2A | c.12774A>G (p.Thr4258=) | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.215675137T>G | CA1393411 | USH2A | c.12774A>C (p.Thr4258=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675137T= | CA1220373821 | USH2A | c.12774A= (p.Thr4258=) | |
| 1 | g.215675138G>A | CA344849184 | USH2A | c.12773C>T (p.Thr4258Ile) | |
| 1 | g.215675138G>C | CA344849188 | USH2A | c.12773C>G (p.Thr4258Arg) | |
| 1 | g.215675138G= | CA1220373822 | USH2A | c.12773C= (p.Thr4258=) | |
| 1 | g.215675138G>T | CA344849197 | USH2A | c.12773C>A (p.Thr4258Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675139T>A | CA344849200 | USH2A | c.12772A>T (p.Thr4258Ser) | |
| 1 | g.215675139T>C | CA344849203 | USH2A | c.12772A>G (p.Thr4258Ala) | |
| 1 | g.215675139T>G | CA344849215 | USH2A | c.12772A>C (p.Thr4258Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675139T= | CA1220373823 | USH2A | c.12772A= (p.Thr4258=) | |
| 1 | g.215675140C>A | CA344849219 | USH2A | c.12771G>T (p.Arg4257Ser) | |
| 1 | g.215675140C= | CA1220373824 | USH2A | c.12771G= (p.Arg4257=) | |
| 1 | g.215675140C>G | CA344849221 | USH2A | c.12771G>C (p.Arg4257Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675140C>T | CA423427808 | USH2A | c.12771G>A (p.Arg4257=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215675141C>A | CA344849237 | USH2A | c.12770G>T (p.Arg4257Met) | |
| 1 | g.215675141C>G | CA344849225 | USH2A | c.12770G>C (p.Arg4257Thr) | |
| 1 | g.215675141C>T | CA344849235 | USH2A | c.12770G>A (p.Arg4257Lys) | gnomAD v4 |
| 1 | g.215675142T>A | CA344849239 | USH2A | c.12769A>T (p.Arg4257Trp) | |
| 1 | g.215675142T>C | CA344849242 | USH2A | c.12769A>G (p.Arg4257Gly) | |
| 1 | g.215675142T>G | CA423427820 | USH2A | c.12769A>C (p.Arg4257=) | |
| 1 | g.215675143C>A | CA423427823 | USH2A | c.12768G>T (p.Val4256=) | gnomAD v4 |
| 1 | g.215675143C= | CA1220373825 | USH2A | c.12768G= (p.Val4256=) | |
| 1 | g.215675143C>G | CA423427828 | USH2A | c.12768G>C (p.Val4256=) | |
| 1 | g.215675143C>T | CA423427841 | USH2A | c.12768G>A (p.Val4256=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675145_215675154del | CA2580062252 | USH2A | c.12759_12768del (p.Trp4253Ter) | ClinVar |
| 1 | g.215675144A>C | CA344849244 | USH2A | c.12767T>G (p.Val4256Gly) | |
| 1 | g.215675144A>G | CA344849246 | USH2A | c.12767T>C (p.Val4256Ala) | gnomAD v4 |
| 1 | g.215675144A>T | CA344849249 | USH2A | c.12767T>A (p.Val4256Glu) | |
| 1 | g.215675145C>A | CA344849251 | USH2A | c.12766G>T (p.Val4256Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675145C= | CA1220373826 | USH2A | c.12766G= (p.Val4256=) | |
| 1 | g.215675145C>G | CA344849252 | USH2A | c.12766G>C (p.Val4256Leu) | |
| 1 | g.215675145C>T | CA1393412 | USH2A | c.12766G>A (p.Val4256Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675145_215675146delinsAG | CA2573131580 | USH2A | c.12765_12766delinsCT (p.Val4256Leu) | ClinVar dbSNP |
| 1 | g.215675146C>A | CA423427853 | USH2A | c.12765G>T (p.Val4255=) | |
| 1 | g.215675146C= | CA1220373827 | USH2A | c.12765G= (p.Val4255=) | |
| 1 | g.215675146C>G | CA423427856 | USH2A | c.12765G>C (p.Val4255=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675146C>T | CA423427857 | USH2A | c.12765G>A (p.Val4255=) | gnomAD v4 |
| 1 | g.215675147A>C | CA344849254 | USH2A | c.12764T>G (p.Val4255Gly) | |
| 1 | g.215675147A>G | CA344849255 | USH2A | c.12764T>C (p.Val4255Ala) | |
| 1 | g.215675147A>T | CA344849257 | USH2A | c.12764T>A (p.Val4255Glu) | |
| 1 | g.215675148C>A | CA344849262 | USH2A | c.12763G>T (p.Val4255Leu) | |
| 1 | g.215675148C= | CA1220373828 | USH2A | c.12763G= (p.Val4255=) | |
| 1 | g.215675148C>G | CA344849266 | USH2A | c.12763G>C (p.Val4255Leu) | |
| 1 | g.215675148C>T | CA344849260 | USH2A | c.12763G>A (p.Val4255Met) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215675149A>C | CA344849271 | USH2A | c.12762T>G (p.Asn4254Lys) | |
| 1 | g.215675149A>G | CA423427870 | USH2A | c.12762T>C (p.Asn4254=) | gnomAD v4 |
| 1 | g.215675149A>T | CA344849273 | USH2A | c.12762T>A (p.Asn4254Lys) | |
| 1 | g.215675150T>A | CA344849277 | USH2A | c.12761A>T (p.Asn4254Ile) | |
| 1 | g.215675150T>C | CA344849279 | USH2A | c.12761A>G (p.Asn4254Ser) | |
| 1 | g.215675150T>G | CA344849283 | USH2A | c.12761A>C (p.Asn4254Thr) | |
| 1 | g.215675151T>A | CA344849291 | USH2A | c.12760A>T (p.Asn4254Tyr) | |
| 1 | g.215675151T>C | CA344849290 | USH2A | c.12760A>G (p.Asn4254Asp) | |
| 1 | g.215675151T>G | CA344849287 | USH2A | c.12760A>C (p.Asn4254His) | |
| 1 | g.215675152C>A | CA344849295 | USH2A | c.12759G>T (p.Trp4253Cys) | |
| 1 | g.215675152C= | CA1220373829 | USH2A | c.12759G= (p.Trp4253=) | |
| 1 | g.215675152C>G | CA344849297 | USH2A | c.12759G>C (p.Trp4253Cys) | |
| 1 | g.215675152C>T | CA344849301 | USH2A | c.12759G>A (p.Trp4253Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215675153C>A | CA344849304 | USH2A | c.12758G>T (p.Trp4253Leu) | |
| 1 | g.215675153C= | CA1220373830 | USH2A | c.12758G= (p.Trp4253=) | |
| 1 | g.215675153C>G | CA1393413 | USH2A | c.12758G>C (p.Trp4253Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675153C>T | CA344849308 | USH2A | c.12758G>A (p.Trp4253Ter) | COSMIC |
| 1 | g.215675154A= | CA1220373831 | USH2A | c.12757T= (p.Trp4253=) | |
| 1 | g.215675154A>C | CA344849310 | USH2A | c.12757T>G (p.Trp4253Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675154A>G | CA344849323 | USH2A | c.12757T>C (p.Trp4253Arg) | |
| 1 | g.215675154A>T | CA344849320 | USH2A | c.12757T>A (p.Trp4253Arg) | |
| 1 | g.215675155A= | CA1220373832 | USH2A | c.12756T= (p.Ser4252=) | |
| 1 | g.215675155A>C | CA423427887 | USH2A | c.12756T>G (p.Ser4252=) | |
| 1 | g.215675155A>G | CA423427888 | USH2A | c.12756T>C (p.Ser4252=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215675155A>T | CA423427890 | USH2A | c.12756T>A (p.Ser4252=) | |
| 1 | g.215675156G>A | CA1393414 | USH2A | c.12755C>T (p.Ser4252Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675156G>C | CA344849330 | USH2A | c.12755C>G (p.Ser4252Cys) | |
| 1 | g.215675156G= | CA1147659175 | USH2A | c.12755C= (p.Ser4252=) | |
| 1 | g.215675156G>T | CA344849332 | USH2A | c.12755C>A (p.Ser4252Tyr) | |
| 1 | g.215675157A= | CA1220373833 | USH2A | c.12754T= (p.Ser4252=) | |
| 1 | g.215675157A>C | CA344849334 | USH2A | c.12754T>G (p.Ser4252Ala) | |
| 1 | g.215675157A>G | CA344849337 | USH2A | c.12754T>C (p.Ser4252Pro) | dbSNP |
| 1 | g.215675157A>T | CA344849340 | USH2A | c.12754T>A (p.Ser4252Thr) | |
| 1 | g.215675158G>A | CA423427900 | USH2A | c.12753C>T (p.Ser4251=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675158G>C | CA344849345 | USH2A | c.12753C>G (p.Ser4251Arg) | |
| 1 | g.215675158G= | CA1220373834 | USH2A | c.12753C= (p.Ser4251=) | |
| 1 | g.215675158G>T | CA344849346 | USH2A | c.12753C>A (p.Ser4251Arg) | |
| 1 | g.215675159C>A | CA344849350 | USH2A | c.12752G>T (p.Ser4251Ile) | |
| 1 | g.215675159C>G | CA344849354 | USH2A | c.12752G>C (p.Ser4251Thr) | |
| 1 | g.215675159C>T | CA344849357 | USH2A | c.12752G>A (p.Ser4251Asn) | |
| 1 | g.215675160T>A | CA344849365 | USH2A | c.12751A>T (p.Ser4251Cys) | |
| 1 | g.215675160T>C | CA344849362 | USH2A | c.12751A>G (p.Ser4251Gly) | dbSNP |
| 1 | g.215675160T>G | CA344849360 | USH2A | c.12751A>C (p.Ser4251Arg) | gnomAD v4 |
| 1 | g.215675161A>C | CA344849381 | USH2A | c.12750T>G (p.Cys4250Trp) | |
| 1 | g.215675161A>G | CA423427911 | USH2A | c.12750T>C (p.Cys4250=) | |
| 1 | g.215675161A>T | CA344849383 | USH2A | c.12750T>A (p.Cys4250Ter) | |
| 1 | g.215675162C>A | CA344849386 | USH2A | c.12749G>T (p.Cys4250Phe) | |
| 1 | g.215675162C= | CA1220373835 | USH2A | c.12749G= (p.Cys4250=) | |
| 1 | g.215675162C>G | CA344849387 | USH2A | c.12749G>C (p.Cys4250Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675162C>T | CA344849391 | USH2A | c.12749G>A (p.Cys4250Tyr) | |
| 1 | g.215675163A>C | CA344849400 | USH2A | c.12748T>G (p.Cys4250Gly) | |
| 1 | g.215675163A>G | CA344849402 | USH2A | c.12748T>C (p.Cys4250Arg) | |
| 1 | g.215675163A>T | CA344849403 | USH2A | c.12748T>A (p.Cys4250Ser) | |
| 1 | g.215675164G>A | CA423427930 | USH2A | c.12747C>T (p.Thr4249=) | |
| 1 | g.215675164G>C | CA423427932 | USH2A | c.12747C>G (p.Thr4249=) | |
| 1 | g.215675164G>T | CA423427931 | USH2A | c.12747C>A (p.Thr4249=) | |
| 1 | g.215675165_215675169del | CA2580062254 | USH2A | c.12743_12747del (p.His4248LeufsTer2) | ClinVar gnomAD v4 |
| 1 | g.215675165G>A | CA344849411 | USH2A | c.12746C>T (p.Thr4249Ile) | gnomAD v4 |
| 1 | g.215675165G>C | CA344849406 | USH2A | c.12746C>G (p.Thr4249Ser) | |
| 1 | g.215675165G>T | CA344849409 | USH2A | c.12746C>A (p.Thr4249Asn) | |
| 1 | g.215675166T>A | CA344849415 | USH2A | c.12745A>T (p.Thr4249Ser) | |
| 1 | g.215675166T>C | CA344849418 | USH2A | c.12745A>G (p.Thr4249Ala) | |
| 1 | g.215675166T>G | CA344849428 | USH2A | c.12745A>C (p.Thr4249Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675166T= | CA1220373836 | USH2A | c.12745A= (p.Thr4249=) | |
| 1 | g.215675167A>C | CA344849434 | USH2A | c.12744T>G (p.His4248Gln) | |
| 1 | g.215675167A>G | CA423427938 | USH2A | c.12744T>C (p.His4248=) | |
| 1 | g.215675167A>T | CA344849437 | USH2A | c.12744T>A (p.His4248Gln) | |
| 1 | g.215675167_215675172delinsATGCCC | CA1220373837 | USH2A | c.12739_12744delinsGGGCAT (p.Gly4247=) | |
| 1 | g.215675168T>A | CA1393415 | USH2A | c.12743A>T (p.His4248Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675168T>C | CA143302 | USH2A | c.12743A>G (p.His4248Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675168T>G | CA344849443 | USH2A | c.12743A>C (p.His4248Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675168T= | CA1142078794 | USH2A | c.12743A= (p.His4248=) | |
| 1 | g.215675168_215675172del | CA731336904 | USH2A | c.12739_12743del (p.Gly4247TyrfsTer3) | dbSNP |
| 1 | g.215675169G>A | CA344849447 | USH2A | c.12742C>T (p.His4248Tyr) | |
| 1 | g.215675169G>C | CA344849449 | USH2A | c.12742C>G (p.His4248Asp) | |
| 1 | g.215675169G= | CA1143842540 | USH2A | c.12742C= (p.His4248=) | |
| 1 | g.215675169G>T | CA37412952 | USH2A | c.12742C>A (p.His4248Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675170C>A | CA423427950 | USH2A | c.12741G>T (p.Gly4247=) | ClinVar dbSNP |
| 1 | g.215675170C= | CA1220373838 | USH2A | c.12741G= (p.Gly4247=) | |
| 1 | g.215675170C>G | CA1393416 | USH2A | c.12741G>C (p.Gly4247=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215675170C>T | CA423427955 | USH2A | c.12741G>A (p.Gly4247=) | dbSNP gnomAD v2 |
| 1 | g.215675171C>A | CA344849457 | USH2A | c.12740G>T (p.Gly4247Val) | |
| 1 | g.215675171C>G | CA344849459 | USH2A | c.12740G>C (p.Gly4247Ala) | |
| 1 | g.215675171C>T | CA344849461 | USH2A | c.12740G>A (p.Gly4247Glu) | gnomAD v4 |
| 1 | g.215675172C>A | CA344849465 | USH2A | c.12739G>T (p.Gly4247Trp) | COSMIC COSMIC |
| 1 | g.215675172C= | CA1144229168 | USH2A | c.12739G= (p.Gly4247=) | |
| 1 | g.215675172C>G | CA344849468 | USH2A | c.12739G>C (p.Gly4247Arg) | |
| 1 | g.215675172C>T | CA262080 | USH2A | c.12739G>A (p.Gly4247Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |