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.215680188T>A | CA423429738 | USH2A | c.12255A>T (p.Leu4085=) | |
| 1 | g.215680188T>C | CA423429737 | USH2A | c.12255A>G (p.Leu4085=) | ClinVar gnomAD v4 |
| 1 | g.215680188T>G | CA423429736 | USH2A | c.12255A>C (p.Leu4085=) | |
| 1 | g.215680189A>C | CA344815884 | USH2A | c.12254T>G (p.Leu4085Arg) | |
| 1 | g.215680189A>G | CA344815883 | USH2A | c.12254T>C (p.Leu4085Pro) | |
| 1 | g.215680189A>T | CA344815881 | USH2A | c.12254T>A (p.Leu4085Gln) | |
| 1 | g.215680190G>A | CA423429745 | USH2A | c.12253C>T (p.Leu4085=) | ClinVar |
| 1 | g.215680190G>C | CA344815886 | USH2A | c.12253C>G (p.Leu4085Val) | |
| 1 | g.215680190G= | CA1148255736 | USH2A | c.12253C= (p.Leu4085=) | |
| 1 | g.215680190G>T | CA1393515 | USH2A | c.12253C>A (p.Leu4085Ile) | dbSNP ExAC gnomAD v2 |
| 1 | g.215680190dup | CA2739275679 | USH2A | c.12253dup (p.Leu4085ProfsTer14) | ClinVar |
| 1 | g.215680190_215680191delinsGT | CA1220376272 | USH2A | c.12252_12253delinsAC (p.Leu4084=) | |
| 1 | g.215680191del | CA916082118 | USH2A | c.12252del (p.Leu4085TyrfsTer7) | ClinVar dbSNP |
| 1 | g.215680191T>A | CA423429751 | USH2A | c.12252A>T (p.Leu4084=) | ClinVar gnomAD v4 |
| 1 | g.215680191T>C | CA423429748 | USH2A | c.12252A>G (p.Leu4084=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215680191T>G | CA1393516 | USH2A | c.12252A>C (p.Leu4084=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215680191T= | CA1220376278 | USH2A | c.12252A= (p.Leu4084=) | |
| 1 | g.215680192A>C | CA344815890 | USH2A | c.12251T>G (p.Leu4084Arg) | |
| 1 | g.215680192A>G | CA344815892 | USH2A | c.12251T>C (p.Leu4084Pro) | |
| 1 | g.215680192A>T | CA344815894 | USH2A | c.12251T>A (p.Leu4084Gln) | |
| 1 | g.215680193G>A | CA423429754 | USH2A | c.12250C>T (p.Leu4084=) | |
| 1 | g.215680193G>C | CA344815896 | USH2A | c.12250C>G (p.Leu4084Val) | |
| 1 | g.215680193G>T | CA344815897 | USH2A | c.12250C>A (p.Leu4084Ile) | |
| 1 | g.215680194C>A | CA344815899 | USH2A | c.12249G>T (p.Leu4083Phe) | |
| 1 | g.215680194C= | CA1220376283 | USH2A | c.12249G= (p.Leu4083=) | |
| 1 | g.215680194C>G | CA344815901 | USH2A | c.12249G>C (p.Leu4083Phe) | dbSNP gnomAD v2 |
| 1 | g.215680194C>T | CA423429758 | USH2A | c.12249G>A (p.Leu4083=) | gnomAD v4 |
| 1 | g.215680195A>C | CA344815903 | USH2A | c.12248T>G (p.Leu4083Trp) | |
| 1 | g.215680195A>G | CA344815905 | USH2A | c.12248T>C (p.Leu4083Ser) | gnomAD v4 |
| 1 | g.215680195A>T | CA344815907 | USH2A | c.12248T>A (p.Leu4083Ter) | |
| 1 | g.215680196A= | CA1220376285 | USH2A | c.12247T= (p.Leu4083=) | |
| 1 | g.215680196A>C | CA344815911 | USH2A | c.12247T>G (p.Leu4083Val) | |
| 1 | g.215680196A>G | CA423429764 | USH2A | c.12247T>C (p.Leu4083=) | gnomAD v4 |
| 1 | g.215680196A>T | CA344815909 | USH2A | c.12247T>A (p.Leu4083Met) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215680197T>A | CA423429770 | USH2A | c.12246A>T (p.Ala4082=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215680197T>C | CA423429771 | USH2A | c.12246A>G (p.Ala4082=) | ClinVar dbSNP |
| 1 | g.215680197T>G | CA423429772 | USH2A | c.12246A>C (p.Ala4082=) | |
| 1 | g.215680197T= | CA1220376288 | USH2A | c.12246A= (p.Ala4082=) | |
| 1 | g.215680198G>A | CA344815912 | USH2A | c.12245C>T (p.Ala4082Val) | |
| 1 | g.215680198G>C | CA344815913 | USH2A | c.12245C>G (p.Ala4082Gly) | |
| 1 | g.215680198G>T | CA344815914 | USH2A | c.12245C>A (p.Ala4082Glu) | |
| 1 | g.215680199C>A | CA344815916 | USH2A | c.12244G>T (p.Ala4082Ser) | dbSNP gnomAD v4 |
| 1 | g.215680199C= | CA1220376290 | USH2A | c.12244G= (p.Ala4082=) | |
| 1 | g.215680199C>G | CA344815918 | USH2A | c.12244G>C (p.Ala4082Pro) | |
| 1 | g.215680199C>T | CA37358020 | USH2A | c.12244G>A (p.Ala4082Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215680200C>A | CA423429782 | USH2A | c.12243G>T (p.Arg4081=) | |
| 1 | g.215680200C= | CA1220376293 | USH2A | c.12243G= (p.Arg4081=) | |
| 1 | g.215680200C>G | CA423429786 | USH2A | c.12243G>C (p.Arg4081=) | |
| 1 | g.215680200C>T | CA423429784 | USH2A | c.12243G>A (p.Arg4081=) | gnomAD v4 |
| 1 | g.215680201C>A | CA344815921 | USH2A | c.12242G>T (p.Arg4081Leu) | |
| 1 | g.215680201C= | CA1145348993 | USH2A | c.12242G= (p.Arg4081=) | |
| 1 | g.215680201C>G | CA344815923 | USH2A | c.12242G>C (p.Arg4081Pro) | gnomAD v4 |
| 1 | g.215680201C>T | CA1393517 | USH2A | c.12242G>A (p.Arg4081Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680202_215680204dup | CA731340771 | USH2A | c.12240_12242dup (p.Arg4081_Ala4082insArg) | dbSNP |
| 1 | g.215680202G>A | CA1393518 | USH2A | c.12241C>T (p.Arg4081Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680202G>C | CA344815927 | USH2A | c.12241C>G (p.Arg4081Gly) | gnomAD v4 |
| 1 | g.215680202G= | CA1142012906 | USH2A | c.12241C= (p.Arg4081=) | |
| 1 | g.215680202G>T | CA37358028 | USH2A | c.12241C>A (p.Arg4081=) | ClinVar dbSNP |
| 1 | g.215680203G>A | CA423429792 | USH2A | c.12240C>T (p.Gly4080=) | gnomAD v4 COSMIC COSMIC |
| 1 | g.215680203G>C | CA423429793 | USH2A | c.12240C>G (p.Gly4080=) | |
| 1 | g.215680203G>T | CA423429794 | USH2A | c.12240C>A (p.Gly4080=) | gnomAD v4 |
| 1 | g.215680204C>A | CA344815929 | USH2A | c.12239G>T (p.Gly4080Val) | gnomAD v4 |
| 1 | g.215680204C>G | CA344815931 | USH2A | c.12239G>C (p.Gly4080Ala) | |
| 1 | g.215680204C>T | CA344815933 | USH2A | c.12239G>A (p.Gly4080Asp) | gnomAD v4 |
| 1 | g.215680205C>A | CA344815938 | USH2A | c.12238G>T (p.Gly4080Cys) | |
| 1 | g.215680205C>G | CA344815936 | USH2A | c.12238G>C (p.Gly4080Arg) | |
| 1 | g.215680205C>T | CA344815935 | USH2A | c.12238G>A (p.Gly4080Ser) | |
| 1 | g.215680206A= | CA1220376301 | USH2A | c.12237T= (p.Asn4079=) | |
| 1 | g.215680206A>C | CA344815940 | USH2A | c.12237T>G (p.Asn4079Lys) | |
| 1 | g.215680206A>G | CA423429801 | USH2A | c.12237T>C (p.Asn4079=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215680206A>T | CA344815941 | USH2A | c.12237T>A (p.Asn4079Lys) | dbSNP gnomAD v4 |
| 1 | g.215680207T>A | CA344815944 | USH2A | c.12236A>T (p.Asn4079Ile) | COSMIC COSMIC |
| 1 | g.215680207T>C | CA344815945 | USH2A | c.12236A>G (p.Asn4079Ser) | gnomAD v4 |
| 1 | g.215680207T>G | CA344815947 | USH2A | c.12236A>C (p.Asn4079Thr) | |
| 1 | g.215680207_215680209delinsTTC | CA1220376305 | USH2A | c.12234_12236delinsGAA (p.Glu4078=) | |
| 1 | g.215680208T>A | CA344815950 | USH2A | c.12235A>T (p.Asn4079Tyr) | |
| 1 | g.215680208T>C | CA344815951 | USH2A | c.12235A>G (p.Asn4079Asp) | |
| 1 | g.215680208T>G | CA344815953 | USH2A | c.12235A>C (p.Asn4079His) | |
| 1 | g.215680208_215680212delinsTCTCT | CA1144233403 | USH2A | c.12231_12235delinsAGAGA (p.Lys4077=) | |
| 1 | g.215680211_215680212del | CA224397 | USH2A | c.12234_12235del (p.Asn4079TrpfsTer19) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680209C>A | CA344815955 | USH2A | c.12234G>T (p.Glu4078Asp) | |
| 1 | g.215680209C>G | CA344815957 | USH2A | c.12234G>C (p.Glu4078Asp) | |
| 1 | g.215680209C>T | CA423429807 | USH2A | c.12234G>A (p.Glu4078=) | |
| 1 | g.215680210T>A | CA344815959 | USH2A | c.12233A>T (p.Glu4078Val) | |
| 1 | g.215680210T>C | CA344815961 | USH2A | c.12233A>G (p.Glu4078Gly) | gnomAD v4 |
| 1 | g.215680210T>G | CA344815963 | USH2A | c.12233A>C (p.Glu4078Ala) | |
| 1 | g.215680211C>A | CA37358034 | USH2A | c.12232G>T (p.Glu4078Ter) | ClinVar dbSNP gnomAD v2 |
| 1 | g.215680211C= | CA1220376311 | USH2A | c.12232G= (p.Glu4078=) | |
| 1 | g.215680211C>G | CA344815968 | USH2A | c.12232G>C (p.Glu4078Gln) | |
| 1 | g.215680211C>T | CA344815965 | USH2A | c.12232G>A (p.Glu4078Lys) | |
| 1 | g.215680212T>A | CA344815970 | USH2A | c.12231A>T (p.Lys4077Asn) | |
| 1 | g.215680212T>C | CA423429811 | USH2A | c.12231A>G (p.Lys4077=) | |
| 1 | g.215680212T>G | CA344815971 | USH2A | c.12231A>C (p.Lys4077Asn) | |
| 1 | g.215680213T>A | CA344815973 | USH2A | c.12230A>T (p.Lys4077Ile) | |
| 1 | g.215680213T>C | CA344815975 | USH2A | c.12230A>G (p.Lys4077Arg) | |
| 1 | g.215680213T>G | CA344815977 | USH2A | c.12230A>C (p.Lys4077Thr) | |
| 1 | g.215680214T>A | CA344815982 | USH2A | c.12229A>T (p.Lys4077Ter) | |
| 1 | g.215680214T>C | CA344815980 | USH2A | c.12229A>G (p.Lys4077Glu) | |
| 1 | g.215680214T>G | CA344815979 | USH2A | c.12229A>C (p.Lys4077Gln) | |
| 1 | g.215680215C>A | CA344815984 | USH2A | c.12228G>T (p.Gln4076His) | |
| 1 | g.215680215C= | CA1220376313 | USH2A | c.12228G= (p.Gln4076=) | |
| 1 | g.215680215C>G | CA344815985 | USH2A | c.12228G>C (p.Gln4076His) | |
| 1 | g.215680215C>T | CA1393519 | USH2A | c.12228G>A (p.Gln4076=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215680216T>A | CA344815988 | USH2A | c.12227A>T (p.Gln4076Leu) | |
| 1 | g.215680216T>C | CA344815990 | USH2A | c.12227A>G (p.Gln4076Arg) | |
| 1 | g.215680216T>G | CA344815992 | USH2A | c.12227A>C (p.Gln4076Pro) | |
| 1 | g.215680217G>A | CA344815994 | USH2A | c.12226C>T (p.Gln4076Ter) | ClinVar |
| 1 | g.215680217G>C | CA344815998 | USH2A | c.12226C>G (p.Gln4076Glu) | gnomAD v4 |
| 1 | g.215680217G>T | CA344815996 | USH2A | c.12226C>A (p.Gln4076Lys) | gnomAD v4 |
| 1 | g.215680218T>A | CA344816000 | USH2A | c.12225A>T (p.Glu4075Asp) | |
| 1 | g.215680218T>C | CA423429820 | USH2A | c.12225A>G (p.Glu4075=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215680218T>G | CA344816002 | USH2A | c.12225A>C (p.Glu4075Asp) | |
| 1 | g.215680219T>A | CA344816004 | USH2A | c.12224A>T (p.Glu4075Val) | |
| 1 | g.215680219T>C | CA344816006 | USH2A | c.12224A>G (p.Glu4075Gly) | dbSNP |
| 1 | g.215680219T>G | CA344816007 | USH2A | c.12224A>C (p.Glu4075Ala) | |
| 1 | g.215680219T= | CA1220376316 | USH2A | c.12224A= (p.Glu4075=) | |
| 1 | g.215680220C>A | CA344816010 | USH2A | c.12223G>T (p.Glu4075Ter) | |
| 1 | g.215680220C>G | CA344816011 | USH2A | c.12223G>C (p.Glu4075Gln) | |
| 1 | g.215680220C>T | CA344816013 | USH2A | c.12223G>A (p.Glu4075Lys) | gnomAD v4 |
| 1 | g.215680221T>A | CA423429823 | USH2A | c.12222A>T (p.Val4074=) | COSMIC COSMIC |
| 1 | g.215680221T>C | CA423429824 | USH2A | c.12222A>G (p.Val4074=) | |
| 1 | g.215680221T>G | CA423429826 | USH2A | c.12222A>C (p.Val4074=) | |
| 1 | g.215680222A= | CA1220376319 | USH2A | c.12221T= (p.Val4074=) | |
| 1 | g.215680222A>C | CA344816015 | USH2A | c.12221T>G (p.Val4074Gly) | |
| 1 | g.215680222A>G | CA344816017 | USH2A | c.12221T>C (p.Val4074Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680222A>T | CA344816019 | USH2A | c.12221T>A (p.Val4074Glu) | |
| 1 | g.215680223C>A | CA344816022 | USH2A | c.12220G>T (p.Val4074Leu) | |
| 1 | g.215680223C>G | CA344816025 | USH2A | c.12220G>C (p.Val4074Leu) | |
| 1 | g.215680223C>T | CA344816023 | USH2A | c.12220G>A (p.Val4074Ile) | |
| 1 | g.215680224T>A | CA423429834 | USH2A | c.12219A>T (p.Ile4073=) | |
| 1 | g.215680224T>C | CA344816027 | USH2A | c.12219A>G (p.Ile4073Met) | dbSNP gnomAD v4 |
| 1 | g.215680224T>G | CA423429835 | USH2A | c.12219A>C (p.Ile4073=) | gnomAD v4 |
| 1 | g.215680224T= | CA1220376322 | USH2A | c.12219A= (p.Ile4073=) | |
| 1 | g.215680225A= | CA1220376325 | USH2A | c.12218T= (p.Ile4073=) | |
| 1 | g.215680225A>C | CA344816032 | USH2A | c.12218T>G (p.Ile4073Arg) | |
| 1 | g.215680225A>G | CA344816030 | USH2A | c.12218T>C (p.Ile4073Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215680225A>T | CA344816033 | USH2A | c.12218T>A (p.Ile4073Lys) | |
| 1 | g.215680226T>A | CA344816036 | USH2A | c.12217A>T (p.Ile4073Leu) | |
| 1 | g.215680226T>C | CA344816038 | USH2A | c.12217A>G (p.Ile4073Val) | gnomAD v4 |
| 1 | g.215680226T>G | CA344816040 | USH2A | c.12217A>C (p.Ile4073Leu) | |
| 1 | g.215680227A>C | CA344816042 | USH2A | c.12216T>G (p.Phe4072Leu) | |
| 1 | g.215680227A>G | CA423429839 | USH2A | c.12216T>C (p.Phe4072=) | |
| 1 | g.215680227A>T | CA344816044 | USH2A | c.12216T>A (p.Phe4072Leu) | |
| 1 | g.215680228A>C | CA344816047 | USH2A | c.12215T>G (p.Phe4072Cys) | |
| 1 | g.215680228A>G | CA344816048 | USH2A | c.12215T>C (p.Phe4072Ser) | |
| 1 | g.215680228A>T | CA344816049 | USH2A | c.12215T>A (p.Phe4072Tyr) | |
| 1 | g.215680229A>C | CA344816050 | USH2A | c.12214T>G (p.Phe4072Val) | |
| 1 | g.215680229A>G | CA344816052 | USH2A | c.12214T>C (p.Phe4072Leu) | ClinVar gnomAD v4 |
| 1 | g.215680229A>T | CA344816054 | USH2A | c.12214T>A (p.Phe4072Ile) | gnomAD v4 |
| 1 | g.215680230G>A | CA423429844 | USH2A | c.12213C>T (p.Asn4071=) | |
| 1 | g.215680230G>C | CA344816056 | USH2A | c.12213C>G (p.Asn4071Lys) | |
| 1 | g.215680230G>T | CA344816058 | USH2A | c.12213C>A (p.Asn4071Lys) | |
| 1 | g.215680231T>A | CA344816060 | USH2A | c.12212A>T (p.Asn4071Ile) | |
| 1 | g.215680231T>C | CA344816063 | USH2A | c.12212A>G (p.Asn4071Ser) | |
| 1 | g.215680231T>G | CA344816062 | USH2A | c.12212A>C (p.Asn4071Thr) | |
| 1 | g.215680232_215680233del | CA2580062353 | USH2A | c.12211_12212del (p.Asn4071LeufsTer27) | ClinVar |
| 1 | g.215680232T>A | CA344816065 | USH2A | c.12211A>T (p.Asn4071Tyr) | |
| 1 | g.215680232T>C | CA344816067 | USH2A | c.12211A>G (p.Asn4071Asp) | |
| 1 | g.215680232T>G | CA344816069 | USH2A | c.12211A>C (p.Asn4071His) | |
| 1 | g.215680233T>A | CA344816071 | USH2A | c.12210A>T (p.Arg4070Ser) | |
| 1 | g.215680233T>C | CA423429848 | USH2A | c.12210A>G (p.Arg4070=) | dbSNP gnomAD v4 |
| 1 | g.215680233T>G | CA344816072 | USH2A | c.12210A>C (p.Arg4070Ser) | |
| 1 | g.215680233T= | CA1220376328 | USH2A | c.12210A= (p.Arg4070=) | |
| 1 | g.215680234C>A | CA344816075 | USH2A | c.12209G>T (p.Arg4070Ile) | |
| 1 | g.215680234C= | CA1220376333 | USH2A | c.12209G= (p.Arg4070=) | |
| 1 | g.215680234C>G | CA344816077 | USH2A | c.12209G>C (p.Arg4070Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215680234C>T | CA1393520 | USH2A | c.12209G>A (p.Arg4070Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680235T>A | CA344816079 | USH2A | c.12208A>T (p.Arg4070Ter) | |
| 1 | g.215680235T>C | CA344816080 | USH2A | c.12208A>G (p.Arg4070Gly) | |
| 1 | g.215680235T>G | CA423429850 | USH2A | c.12208A>C (p.Arg4070=) | |
| 1 | g.215680236C>A | CA423429855 | USH2A | c.12207G>T (p.Leu4069=) | dbSNP |
| 1 | g.215680236C= | CA1220376336 | USH2A | c.12207G= (p.Leu4069=) | |
| 1 | g.215680236C>G | CA1393521 | USH2A | c.12207G>C (p.Leu4069=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215680236C>T | CA423429854 | USH2A | c.12207G>A (p.Leu4069=) | |
| 1 | g.215680237A>C | CA344816087 | USH2A | c.12206T>G (p.Leu4069Arg) | |
| 1 | g.215680237A>G | CA344816083 | USH2A | c.12206T>C (p.Leu4069Pro) | gnomAD v4 |
| 1 | g.215680237A>T | CA344816085 | USH2A | c.12206T>A (p.Leu4069Gln) | |
| 1 | g.215680238G>A | CA423429860 | USH2A | c.12205C>T (p.Leu4069=) | |
| 1 | g.215680238G>C | CA344816089 | USH2A | c.12205C>G (p.Leu4069Val) | |
| 1 | g.215680238G>T | CA344816091 | USH2A | c.12205C>A (p.Leu4069Met) | |
| 1 | g.215680239T>A | CA423429861 | USH2A | c.12204A>T (p.Gly4068=) | |
| 1 | g.215680239T>C | CA423429862 | USH2A | c.12204A>G (p.Gly4068=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680239T>G | CA423429863 | USH2A | c.12204A>C (p.Gly4068=) | |
| 1 | g.215680239T= | CA1220376337 | USH2A | c.12204A= (p.Gly4068=) | |
| 1 | g.215680240C>A | CA1393522 | USH2A | c.12203G>T (p.Gly4068Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215680240C= | CA1220376338 | USH2A | c.12203G= (p.Gly4068=) | |
| 1 | g.215680240C>G | CA344816094 | USH2A | c.12203G>C (p.Gly4068Ala) | |
| 1 | g.215680240C>T | CA344816096 | USH2A | c.12203G>A (p.Gly4068Glu) | gnomAD v4 |
| 1 | g.215680241C>A | CA344816098 | USH2A | c.12202G>T (p.Gly4068Ter) | ClinVar dbSNP COSMIC |
| 1 | g.215680241C= | CA1220376343 | USH2A | c.12202G= (p.Gly4068=) | |
| 1 | g.215680241C>G | CA344816100 | USH2A | c.12202G>C (p.Gly4068Arg) | |
| 1 | g.215680241C>T | CA344816102 | USH2A | c.12202G>A (p.Gly4068Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215680242A= | CA1220376347 | USH2A | c.12201T= (p.Ser4067=) | |
| 1 | g.215680242A>C | CA344816105 | USH2A | c.12201T>G (p.Ser4067Arg) | dbSNP COSMIC COSMIC |
| 1 | g.215680242A>G | CA423429870 | USH2A | c.12201T>C (p.Ser4067=) | |
| 1 | g.215680242A>T | CA344816109 | USH2A | c.12201T>A (p.Ser4067Arg) | |
| 1 | g.215680243C>A | CA344816117 | USH2A | c.12200G>T (p.Ser4067Ile) | dbSNP |
| 1 | g.215680243C= | CA1220376348 | USH2A | c.12200G= (p.Ser4067=) | |
| 1 | g.215680243C>G | CA37358041 | USH2A | c.12200G>C (p.Ser4067Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215680243C>T | CA344816113 | USH2A | c.12200G>A (p.Ser4067Asn) | |
| 1 | g.215680244T>A | CA344816120 | USH2A | c.12199A>T (p.Ser4067Cys) | |
| 1 | g.215680244T>C | CA344816121 | USH2A | c.12199A>G (p.Ser4067Gly) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215680244T>G | CA1393523 | USH2A | c.12199A>C (p.Ser4067Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680244T= | CA1143402077 | USH2A | c.12199A= (p.Ser4067=) | |
| 1 | g.215680245T>A | CA423429872 | USH2A | c.12198A>T (p.Pro4066=) | |
| 1 | g.215680245T>C | CA423429873 | USH2A | c.12198A>G (p.Pro4066=) | gnomAD v4 |
| 1 | g.215680245T>G | CA423429874 | USH2A | c.12198A>C (p.Pro4066=) | |
| 1 | g.215680246G>A | CA344816128 | USH2A | c.12197C>T (p.Pro4066Leu) | |
| 1 | g.215680246G>C | CA344816130 | USH2A | c.12197C>G (p.Pro4066Arg) | |
| 1 | g.215680246G>T | CA344816134 | USH2A | c.12197C>A (p.Pro4066Gln) | |
| 1 | g.215680247G>A | CA344816137 | USH2A | c.12196C>T (p.Pro4066Ser) | |
| 1 | g.215680247G>C | CA344816140 | USH2A | c.12196C>G (p.Pro4066Ala) | COSMIC COSMIC |
| 1 | g.215680247G>T | CA344816143 | USH2A | c.12196C>A (p.Pro4066Thr) | |
| 1 | g.215680248G>A | CA423429878 | USH2A | c.12195C>T (p.Ser4065=) | |
| 1 | g.215680248G>C | CA423429879 | USH2A | c.12195C>G (p.Ser4065=) | |
| 1 | g.215680248G>T | CA423429880 | USH2A | c.12195C>A (p.Ser4065=) | |
| 1 | g.215680249G>A | CA344816146 | USH2A | c.12194C>T (p.Ser4065Phe) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215680249G>C | CA344816149 | USH2A | c.12194C>G (p.Ser4065Cys) | |
| 1 | g.215680249G= | CA1220376353 | USH2A | c.12194C= (p.Ser4065=) | |
| 1 | g.215680249G>T | CA344816152 | USH2A | c.12194C>A (p.Ser4065Tyr) | |
| 1 | g.215680250A>C | CA344816157 | USH2A | c.12193T>G (p.Ser4065Ala) | |
| 1 | g.215680250A>G | CA344816160 | USH2A | c.12193T>C (p.Ser4065Pro) | |
| 1 | g.215680250A>T | CA344816154 | USH2A | c.12193T>A (p.Ser4065Thr) | |
| 1 | g.215680251A>C | CA423429896 | USH2A | c.12192T>G (p.Ser4064=) | |
| 1 | g.215680251A>G | CA423429895 | USH2A | c.12192T>C (p.Ser4064=) | |
| 1 | g.215680251A>T | CA423429894 | USH2A | c.12192T>A (p.Ser4064=) | |
| 1 | g.215680252G>A | CA344816163 | USH2A | c.12191C>T (p.Ser4064Phe) | |
| 1 | g.215680252G>C | CA344816166 | USH2A | c.12191C>G (p.Ser4064Cys) | |
| 1 | g.215680252G>T | CA344816168 | USH2A | c.12191C>A (p.Ser4064Tyr) | |
| 1 | g.215680253A>C | CA344816173 | USH2A | c.12190T>G (p.Ser4064Ala) | |
| 1 | g.215680253A>G | CA344816177 | USH2A | c.12190T>C (p.Ser4064Pro) | |
| 1 | g.215680253A>T | CA344816180 | USH2A | c.12190T>A (p.Ser4064Thr) | |
| 1 | g.215680254T>A | CA344816183 | USH2A | c.12189A>T (p.Glu4063Asp) | |
| 1 | g.215680254T>C | CA1393524 | USH2A | c.12189A>G (p.Glu4063=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215680254T>G | CA344816187 | USH2A | c.12189A>C (p.Glu4063Asp) | |
| 1 | g.215680254T= | CA1220376355 | USH2A | c.12189A= (p.Glu4063=) | |
| 1 | g.215680255T>A | CA344816190 | USH2A | c.12188A>T (p.Glu4063Val) | |
| 1 | g.215680255T>C | CA344816194 | USH2A | c.12188A>G (p.Glu4063Gly) | |
| 1 | g.215680255T>G | CA344816197 | USH2A | c.12188A>C (p.Glu4063Ala) | |
| 1 | g.215680256C>A | CA344816200 | USH2A | c.12187G>T (p.Glu4063Ter) | |
| 1 | g.215680256C= | CA1220376357 | USH2A | c.12187G= (p.Glu4063=) | |
| 1 | g.215680256C>G | CA344816203 | USH2A | c.12187G>C (p.Glu4063Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215680256C>T | CA344816207 | USH2A | c.12187G>A (p.Glu4063Lys) | COSMIC |
| 1 | g.215680257T>A | CA344816211 | USH2A | c.12186A>T (p.Leu4062Phe) | |
| 1 | g.215680257T>C | CA423429877 | USH2A | c.12186A>G (p.Leu4062=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215680257T>G | CA344816214 | USH2A | c.12186A>C (p.Leu4062Phe) | |
| 1 | g.215680257T= | CA1220376361 | USH2A | c.12186A= (p.Leu4062=) | |
| 1 | g.215680258A>C | CA344816217 | USH2A | c.12185T>G (p.Leu4062Ter) | |
| 1 | g.215680258A>G | CA344816220 | USH2A | c.12185T>C (p.Leu4062Ser) | |
| 1 | g.215680258A>T | CA344816223 | USH2A | c.12185T>A (p.Leu4062Ter) | |
| 1 | g.215680259A>C | CA344816225 | USH2A | c.12184T>G (p.Leu4062Val) | |
| 1 | g.215680259A>G | CA423429882 | USH2A | c.12184T>C (p.Leu4062=) | |
| 1 | g.215680259A>T | CA344816227 | USH2A | c.12184T>A (p.Leu4062Ile) | |
| 1 | g.215680260G>A | CA423429883 | USH2A | c.12183C>T (p.Thr4061=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215680260G>C | CA423429884 | USH2A | c.12183C>G (p.Thr4061=) | |
| 1 | g.215680260G= | CA1220376366 | USH2A | c.12183C= (p.Thr4061=) | |
| 1 | g.215680260G>T | CA423429885 | USH2A | c.12183C>A (p.Thr4061=) | dbSNP |
| 1 | g.215680261G>A | CA344816230 | USH2A | c.12182C>T (p.Thr4061Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215680261G>C | CA344816232 | USH2A | c.12182C>G (p.Thr4061Ser) | |
| 1 | g.215680261G= | CA1220376370 | USH2A | c.12182C= (p.Thr4061=) | |
| 1 | g.215680261G>T | CA344816235 | USH2A | c.12182C>A (p.Thr4061Asn) | |
| 1 | g.215680262T>A | CA344816240 | USH2A | c.12181A>T (p.Thr4061Ser) | |
| 1 | g.215680262T>C | CA344816244 | USH2A | c.12181A>G (p.Thr4061Ala) | |
| 1 | g.215680262T>G | CA344816246 | USH2A | c.12181A>C (p.Thr4061Pro) | |
| 1 | g.215680263T>A | CA344816251 | USH2A | c.12180A>T (p.Gln4060His) | |
| 1 | g.215680263T>C | CA423429893 | USH2A | c.12180A>G (p.Gln4060=) | |
| 1 | g.215680263T>G | CA344816254 | USH2A | c.12180A>C (p.Gln4060His) | |
| 1 | g.215680264T>A | CA344816257 | USH2A | c.12179A>T (p.Gln4060Leu) | |
| 1 | g.215680264T>C | CA344816263 | USH2A | c.12179A>G (p.Gln4060Arg) | |
| 1 | g.215680264T>G | CA344816260 | USH2A | c.12179A>C (p.Gln4060Pro) | |
| 1 | g.215680265G>A | CA344816266 | USH2A | c.12178C>T (p.Gln4060Ter) | |
| 1 | g.215680265G>C | CA344816269 | USH2A | c.12178C>G (p.Gln4060Glu) | |
| 1 | g.215680265G>T | CA344816271 | USH2A | c.12178C>A (p.Gln4060Lys) | |
| 1 | g.215680267_215680272del | CA2650501198 | USH2A | c.12173_12178del (p.Leu4058_Ile4059del) | gnomAD v4 |
| 1 | g.215680266A>C | CA344816275 | USH2A | c.12177T>G (p.Ile4059Met) | |
| 1 | g.215680266A>G | CA423429898 | USH2A | c.12177T>C (p.Ile4059=) | |
| 1 | g.215680266A>T | CA423429899 | USH2A | c.12177T>A (p.Ile4059=) | |
| 1 | g.215680266_215680267insG | CA2650501200 | USH2A | c.12176_12177insC (p.Gln4060SerfsTer?) | gnomAD v4 |
| 1 | g.215680267A>C | CA344816278 | USH2A | c.12176T>G (p.Ile4059Ser) | |
| 1 | g.215680267A>G | CA344816281 | USH2A | c.12176T>C (p.Ile4059Thr) | gnomAD v4 |
| 1 | g.215680267A>T | CA344816283 | USH2A | c.12176T>A (p.Ile4059Asn) | |
| 1 | g.215680268T>A | CA344816286 | USH2A | c.12175A>T (p.Ile4059Phe) | |
| 1 | g.215680268T>C | CA344816287 | USH2A | c.12175A>G (p.Ile4059Val) | |
| 1 | g.215680268T>G | CA344816291 | USH2A | c.12175A>C (p.Ile4059Leu) | |
| 1 | g.215680268_215680269insTT | CA2650501204 | USH2A | c.12175_12176insAA (p.Ile4059LysfsTer5) | gnomAD v4 |
| 1 | g.215680268dup | CA2586968201 | USH2A | c.12175dup (p.Ile4059AsnfsTer?) | |
| 1 | g.215680270_215680292del | CA2586968200 | USH2A | c.12153_12175del (p.Glu4051AspfsTer?) | |
| 1 | g.215680269C>A | CA423429904 | USH2A | c.12174G>T (p.Leu4058=) | |
| 1 | g.215680269C>G | CA423429905 | USH2A | c.12174G>C (p.Leu4058=) | |
| 1 | g.215680269C>T | CA423429906 | USH2A | c.12174G>A (p.Leu4058=) | gnomAD v4 |
| 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 |