Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.215673953_215675415del | CA1139656543 | USH2A | c.12497_13811+148del | ClinVar |
1 | g.215675212_215675219del | CA645537388 | USH2A | c.12693_12700del (p.Gln4231HisfsTer4) | COSMIC COSMIC |
1 | g.215675216G>A | CA344849796 | USH2A | c.12695C>T (p.Pro4232Leu) | ClinVar |
1 | g.215675216G>C | CA1393423 | USH2A | c.12695C>G (p.Pro4232Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215675216G= | CA1148230772 | USH2A | c.12695C= (p.Pro4232=) | |
1 | g.215675216G>T | CA344849798 | USH2A | c.12695C>A (p.Pro4232Gln) | ClinVar dbSNP |
1 | g.215675217G>A | CA344849804 | USH2A | c.12694C>T (p.Pro4232Ser) | |
1 | g.215675217G>C | CA344849806 | USH2A | c.12694C>G (p.Pro4232Ala) | |
1 | g.215675217G= | CA1148287517 | USH2A | c.12694C= (p.Pro4232=) | |
1 | g.215675217G>T | CA37412999 | USH2A | c.12694C>A (p.Pro4232Thr) | dbSNP |
1 | g.215675218T>A | CA344849811 | USH2A | c.12693A>T (p.Gln4231His) | |
1 | g.215675218T>C | CA423428090 | USH2A | c.12693A>G (p.Gln4231=) | ClinVar COSMIC COSMIC |
1 | g.215675218T>G | CA344849814 | USH2A | c.12693A>C (p.Gln4231His) | |
1 | g.215675219T>A | CA344849819 | USH2A | c.12692A>T (p.Gln4231Leu) | |
1 | g.215675219T>C | CA344849821 | USH2A | c.12692A>G (p.Gln4231Arg) | gnomAD v3 gnomAD v4 |
1 | g.215675219T>G | CA344849825 | USH2A | c.12692A>C (p.Gln4231Pro) | gnomAD v4 |
1 | g.215675220G>A | CA16042307 | USH2A | c.12691C>T (p.Gln4231Ter) | ClinVar dbSNP |
1 | g.215675220G>C | CA344849828 | USH2A | c.12691C>G (p.Gln4231Glu) | |
1 | g.215675220G= | CA1220373854 | USH2A | c.12691C= (p.Gln4231=) | |
1 | g.215675220G>T | CA344849832 | USH2A | c.12691C>A (p.Gln4231Lys) | COSMIC |
1 | g.215675221C>A | CA344849834 | USH2A | c.12690G>T (p.Leu4230Phe) | |
1 | g.215675221C>G | CA344849839 | USH2A | c.12690G>C (p.Leu4230Phe) | |
1 | g.215675221C>T | CA423428102 | USH2A | c.12690G>A (p.Leu4230=) | ClinVar gnomAD v4 |
1 | g.215675221_215675222insCGTATCATTAAAAAAC | CA1012179129 | USH2A | c.12690_12691insTTTTTTAATGATACGG (p.Gln4231PhefsTer12) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.215675222A>C | CA344849840 | USH2A | c.12689T>G (p.Leu4230Trp) | |
1 | g.215675222A>G | CA344849843 | USH2A | c.12689T>C (p.Leu4230Ser) | |
1 | g.215675222A>T | CA344849846 | USH2A | c.12689T>A (p.Leu4230Ter) | |
1 | g.215675223A>C | CA344849849 | USH2A | c.12688T>G (p.Leu4230Val) | |
1 | g.215675223A>G | CA423428106 | USH2A | c.12688T>C (p.Leu4230=) | gnomAD v4 |
1 | g.215675223A>T | CA344849852 | USH2A | c.12688T>A (p.Leu4230Met) | |
1 | g.215675224A= | CA1220373855 | USH2A | c.12687T= (p.Gly4229=) | |
1 | g.215675224A>C | CA423428113 | USH2A | c.12687T>G (p.Gly4229=) | |
1 | g.215675224A>G | CA423428116 | USH2A | c.12687T>C (p.Gly4229=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.215675224A>T | CA423428119 | USH2A | c.12687T>A (p.Gly4229=) | |
1 | g.215675225C>A | CA344849853 | USH2A | c.12686G>T (p.Gly4229Val) | gnomAD v4 |
1 | g.215675225C>G | CA344849856 | USH2A | c.12686G>C (p.Gly4229Ala) | |
1 | g.215675225C>T | CA344849870 | USH2A | c.12686G>A (p.Gly4229Asp) | |
1 | g.215675226C>A | CA344849886 | USH2A | c.12685G>T (p.Gly4229Cys) | |
1 | g.215675226C= | CA1220373856 | USH2A | c.12685G= (p.Gly4229=) | |
1 | g.215675226C>G | CA344849882 | USH2A | c.12685G>C (p.Gly4229Arg) | gnomAD v4 |
1 | g.215675226C>T | CA1393424 | USH2A | c.12685G>A (p.Gly4229Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675227T>A | CA423428127 | USH2A | c.12684A>T (p.Thr4228=) | |
1 | g.215675227T>C | CA423428129 | USH2A | c.12684A>G (p.Thr4228=) | |
1 | g.215675227T>G | CA423428128 | USH2A | c.12684A>C (p.Thr4228=) | |
1 | g.215675228G>A | CA1393425 | USH2A | c.12683C>T (p.Thr4228Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215675228G>C | CA344849892 | USH2A | c.12683C>G (p.Thr4228Arg) | |
1 | g.215675228G= | CA1220373857 | USH2A | c.12683C= (p.Thr4228=) | |
1 | g.215675228G>T | CA344849900 | USH2A | c.12683C>A (p.Thr4228Lys) | COSMIC COSMIC |
1 | g.215675229T>A | CA344849903 | USH2A | c.12682A>T (p.Thr4228Ser) | |
1 | g.215675229T>C | CA344849906 | USH2A | c.12682A>G (p.Thr4228Ala) | |
1 | g.215675229T>G | CA344849912 | USH2A | c.12682A>C (p.Thr4228Pro) | |
1 | g.215675230G>A | CA423428134 | USH2A | c.12681C>T (p.Asp4227=) | ClinVar dbSNP gnomAD v2 |
1 | g.215675230G>C | CA344849915 | USH2A | c.12681C>G (p.Asp4227Glu) | |
1 | g.215675230G= | CA1220373858 | USH2A | c.12681C= (p.Asp4227=) | |
1 | g.215675230G>T | CA344849924 | USH2A | c.12681C>A (p.Asp4227Glu) | |
1 | g.215675231T>A | CA1393426 | USH2A | c.12680A>T (p.Asp4227Val) | dbSNP ExAC gnomAD v4 |
1 | g.215675231T>C | CA344849931 | USH2A | c.12680A>G (p.Asp4227Gly) | COSMIC COSMIC |
1 | g.215675231T>G | CA344849933 | USH2A | c.12680A>C (p.Asp4227Ala) | |
1 | g.215675231T= | CA1148888162 | USH2A | c.12680A= (p.Asp4227=) | |
1 | g.215675232C>A | CA344849938 | USH2A | c.12679G>T (p.Asp4227Tyr) | |
1 | g.215675232C= | CA1220373859 | USH2A | c.12679G= (p.Asp4227=) | |
1 | g.215675232C>G | CA344849936 | USH2A | c.12679G>C (p.Asp4227His) | |
1 | g.215675232C>T | CA344849935 | USH2A | c.12679G>A (p.Asp4227Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.215675233A>C | CA344849941 | USH2A | c.12678T>G (p.Asn4226Lys) | |
1 | g.215675233A>G | CA423428143 | USH2A | c.12678T>C (p.Asn4226=) | |
1 | g.215675233A>T | CA344849944 | USH2A | c.12678T>A (p.Asn4226Lys) | |
1 | g.215675234T>A | CA344849950 | USH2A | c.12677A>T (p.Asn4226Ile) | |
1 | g.215675234T>C | CA344849952 | USH2A | c.12677A>G (p.Asn4226Ser) | gnomAD v4 |
1 | g.215675234T>G | CA344849954 | USH2A | c.12677A>C (p.Asn4226Thr) | |
1 | g.215675235T>A | CA344849956 | USH2A | c.12676A>T (p.Asn4226Tyr) | |
1 | g.215675235T>C | CA344849958 | USH2A | c.12676A>G (p.Asn4226Asp) | |
1 | g.215675235T>G | CA344849961 | USH2A | c.12676A>C (p.Asn4226His) | |
1 | g.215675235_215675236insGT | CA2534219804 | USH2A | c.12676_12677insCA (p.Asn4226ThrfsTer?) | |
1 | g.215675236A>C | CA344849963 | USH2A | c.12675T>G (p.Tyr4225Ter) | |
1 | g.215675236A>G | CA423428154 | USH2A | c.12675T>C (p.Tyr4225=) | ClinVar dbSNP |
1 | g.215675236A>T | CA344849965 | USH2A | c.12675T>A (p.Tyr4225Ter) | |
1 | g.215675237T>A | CA344849968 | USH2A | c.12674A>T (p.Tyr4225Phe) | |
1 | g.215675237T>C | CA344849969 | USH2A | c.12674A>G (p.Tyr4225Cys) | ClinVar dbSNP gnomAD v4 |
1 | g.215675237T>G | CA344849970 | USH2A | c.12674A>C (p.Tyr4225Ser) | |
1 | g.215675237T= | CA1220373860 | USH2A | c.12674A= (p.Tyr4225=) | |
1 | g.215675238A>C | CA344849972 | USH2A | c.12673T>G (p.Tyr4225Asp) | |
1 | g.215675238A>G | CA344849973 | USH2A | c.12673T>C (p.Tyr4225His) | |
1 | g.215675238A>T | CA344849971 | USH2A | c.12673T>A (p.Tyr4225Asn) | |
1 | g.215675239C>A | CA344849976 | USH2A | c.12672G>T (p.Met4224Ile) | |
1 | g.215675239C>G | CA344849978 | USH2A | c.12672G>C (p.Met4224Ile) | |
1 | g.215675239C>T | CA344849980 | USH2A | c.12672G>A (p.Met4224Ile) | gnomAD v4 |
1 | g.215675240A>C | CA344849984 | USH2A | c.12671T>G (p.Met4224Arg) | |
1 | g.215675240A>G | CA344849986 | USH2A | c.12671T>C (p.Met4224Thr) | |
1 | g.215675240A>T | CA344849990 | USH2A | c.12671T>A (p.Met4224Lys) | |
1 | g.215675241_215675242del | CA2535810358 | USH2A | c.12670_12671del (p.Met4224ValfsTer2) | |
1 | g.215675241T>A | CA344849994 | USH2A | c.12670A>T (p.Met4224Leu) | |
1 | g.215675241T>C | CA1393427 | USH2A | c.12670A>G (p.Met4224Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215675241T>G | CA344849992 | USH2A | c.12670A>C (p.Met4224Leu) | |
1 | g.215675241T= | CA1220373861 | USH2A | c.12670A= (p.Met4224=) | |
1 | g.215675242A= | CA1220373862 | USH2A | c.12669T= (p.Phe4223=) | |
1 | g.215675242A>C | CA344849998 | USH2A | c.12669T>G (p.Phe4223Leu) | |
1 | g.215675242A>G | CA423428166 | USH2A | c.12669T>C (p.Phe4223=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675242A>T | CA344850001 | USH2A | c.12669T>A (p.Phe4223Leu) | |
1 | g.215675243A>C | CA344850002 | USH2A | c.12668T>G (p.Phe4223Cys) | |
1 | g.215675243A>G | CA344850011 | USH2A | c.12668T>C (p.Phe4223Ser) | |
1 | g.215675243A>T | CA344850014 | USH2A | c.12668T>A (p.Phe4223Tyr) | |
1 | g.215675244A= | CA1142393358 | USH2A | c.12667T= (p.Phe4223=) | |
1 | g.215675244A>C | CA344850016 | USH2A | c.12667T>G (p.Phe4223Val) | |
1 | g.215675244A>G | CA143300 | USH2A | c.12667T>C (p.Phe4223Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675244A>T | CA344850019 | USH2A | c.12667T>A (p.Phe4223Ile) | |
1 | g.215675245T>A | CA423428170 | USH2A | c.12666A>T (p.Thr4222=) | |
1 | g.215675245T>C | CA143298 | USH2A | c.12666A>G (p.Thr4222=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675245T>G | CA423428171 | USH2A | c.12666A>C (p.Thr4222=) | |
1 | g.215675245T= | CA1139961659 | USH2A | c.12666A= (p.Thr4222=) | |
1 | g.215675246G>A | CA37413019 | USH2A | c.12665C>T (p.Thr4222Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.215675246G>C | CA344850037 | USH2A | c.12665C>G (p.Thr4222Arg) | gnomAD v4 |
1 | g.215675246G= | CA1220373863 | USH2A | c.12665C= (p.Thr4222=) | |
1 | g.215675246G>T | CA344850042 | USH2A | c.12665C>A (p.Thr4222Lys) | |
1 | g.215675247T>A | CA344850045 | USH2A | c.12664A>T (p.Thr4222Ser) | |
1 | g.215675247T>C | CA344850046 | USH2A | c.12664A>G (p.Thr4222Ala) | |
1 | g.215675247T>G | CA344850047 | USH2A | c.12664A>C (p.Thr4222Pro) | |
1 | g.215675248A>C | CA344850048 | USH2A | c.12663T>G (p.Asn4221Lys) | |
1 | g.215675248A>G | CA423428178 | USH2A | c.12663T>C (p.Asn4221=) | ClinVar dbSNP |
1 | g.215675248A>T | CA344850049 | USH2A | c.12663T>A (p.Asn4221Lys) | |
1 | g.215675249T>A | CA344850051 | USH2A | c.12662A>T (p.Asn4221Ile) | dbSNP |
1 | g.215675249T>C | CA1393428 | USH2A | c.12662A>G (p.Asn4221Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215675249T>G | CA344850065 | USH2A | c.12662A>C (p.Asn4221Thr) | |
1 | g.215675249T= | CA1220373864 | USH2A | c.12662A= (p.Asn4221=) | |
1 | g.215675250T>A | CA344850069 | USH2A | c.12661A>T (p.Asn4221Tyr) | |
1 | g.215675250T>C | CA344850074 | USH2A | c.12661A>G (p.Asn4221Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675250T>G | CA344850072 | USH2A | c.12661A>C (p.Asn4221His) | |
1 | g.215675250T= | CA1220373865 | USH2A | c.12661A= (p.Asn4221=) | |
1 | g.215675251C>A | CA344850077 | USH2A | c.12660G>T (p.Arg4220Ser) | |
1 | g.215675251C= | CA1220373866 | USH2A | c.12660G= (p.Arg4220=) | |
1 | g.215675251C>G | CA344850084 | USH2A | c.12660G>C (p.Arg4220Ser) | |
1 | g.215675251C>T | CA1393429 | USH2A | c.12660G>A (p.Arg4220=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.215675252C>A | CA344850091 | USH2A | c.12659G>T (p.Arg4220Met) | |
1 | g.215675252C>G | CA344850094 | USH2A | c.12659G>C (p.Arg4220Thr) | |
1 | g.215675252C>T | CA344850098 | USH2A | c.12659G>A (p.Arg4220Lys) | |
1 | g.215675253T>A | CA344850102 | USH2A | c.12658A>T (p.Arg4220Trp) | |
1 | g.215675253T>C | CA344850104 | USH2A | c.12658A>G (p.Arg4220Gly) | |
1 | g.215675253T>G | CA423428186 | USH2A | c.12658A>C (p.Arg4220=) | |
1 | g.215675254T>A | CA344850114 | USH2A | c.12657A>T (p.Glu4219Asp) | |
1 | g.215675254T>C | CA423428189 | USH2A | c.12657A>G (p.Glu4219=) | |
1 | g.215675254T>G | CA344850118 | USH2A | c.12657A>C (p.Glu4219Asp) | |
1 | g.215675255T>A | CA344850121 | USH2A | c.12656A>T (p.Glu4219Val) | |
1 | g.215675255T>C | CA344850138 | USH2A | c.12656A>G (p.Glu4219Gly) | |
1 | g.215675255T>G | CA344850141 | USH2A | c.12656A>C (p.Glu4219Ala) | ClinVar dbSNP |
1 | g.215675255T= | CA1220373867 | USH2A | c.12656A= (p.Glu4219=) | |
1 | g.215675256C>A | CA344850146 | USH2A | c.12655G>T (p.Glu4219Ter) | |
1 | g.215675256C>G | CA344850144 | USH2A | c.12655G>C (p.Glu4219Gln) | COSMIC COSMIC |
1 | g.215675256C>T | CA344850145 | USH2A | c.12655G>A (p.Glu4219Lys) | |
1 | g.215675257A>C | CA423428193 | USH2A | c.12654T>G (p.Thr4218=) | ClinVar |
1 | g.215675257A>G | CA423428195 | USH2A | c.12654T>C (p.Thr4218=) | ClinVar |
1 | g.215675257A>T | CA423428194 | USH2A | c.12654T>A (p.Thr4218=) | |
1 | g.215675258G>A | CA344850147 | USH2A | c.12653C>T (p.Thr4218Ile) | ClinVar dbSNP |
1 | g.215675258G>C | CA344850148 | USH2A | c.12653C>G (p.Thr4218Ser) | |
1 | g.215675258G>T | CA344850151 | USH2A | c.12653C>A (p.Thr4218Asn) | |
1 | g.215675259T>A | CA344850153 | USH2A | c.12652A>T (p.Thr4218Ser) | |
1 | g.215675259T>C | CA344850154 | USH2A | c.12652A>G (p.Thr4218Ala) | |
1 | g.215675259T>G | CA344850157 | USH2A | c.12652A>C (p.Thr4218Pro) | |
1 | g.215675260G>A | CA423428200 | USH2A | c.12651C>T (p.Asn4217=) | gnomAD v4 COSMIC COSMIC |
1 | g.215675260G>C | CA344850160 | USH2A | c.12651C>G (p.Asn4217Lys) | |
1 | g.215675260G= | CA1220373868 | USH2A | c.12651C= (p.Asn4217=) | |
1 | g.215675260G>T | CA1393430 | USH2A | c.12651C>A (p.Asn4217Lys) | dbSNP ExAC gnomAD v2 |
1 | g.215675261T>A | CA344850166 | USH2A | c.12650A>T (p.Asn4217Ile) | |
1 | g.215675261T>C | CA344850170 | USH2A | c.12650A>G (p.Asn4217Ser) | |
1 | g.215675261T>G | CA1393431 | USH2A | c.12650A>C (p.Asn4217Thr) | dbSNP ExAC gnomAD v2 |
1 | g.215675261T= | CA1220373869 | USH2A | c.12650A= (p.Asn4217=) | |
1 | g.215675262T>A | CA344850193 | USH2A | c.12649A>T (p.Asn4217Tyr) | |
1 | g.215675262T>C | CA344850181 | USH2A | c.12649A>G (p.Asn4217Asp) | |
1 | g.215675262T>G | CA344850177 | USH2A | c.12649A>C (p.Asn4217His) | |
1 | g.215675263A>C | CA344850197 | USH2A | c.12648T>G (p.Tyr4216Ter) | |
1 | g.215675263A>G | CA423428209 | USH2A | c.12648T>C (p.Tyr4216=) | |
1 | g.215675263A>T | CA344850199 | USH2A | c.12648T>A (p.Tyr4216Ter) | |
1 | g.215675264T>A | CA344850203 | USH2A | c.12647A>T (p.Tyr4216Phe) | |
1 | g.215675264T>C | CA1393432 | USH2A | c.12647A>G (p.Tyr4216Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215675264T>G | CA344850207 | USH2A | c.12647A>C (p.Tyr4216Ser) | |
1 | g.215675264T= | CA1220373870 | USH2A | c.12647A= (p.Tyr4216=) | |
1 | g.215675265A>C | CA344850209 | USH2A | c.12646T>G (p.Tyr4216Asp) | |
1 | g.215675265A>G | CA344850212 | USH2A | c.12646T>C (p.Tyr4216His) | |
1 | g.215675265A>T | CA344850218 | USH2A | c.12646T>A (p.Tyr4216Asn) | |
1 | g.215675266T>A | CA344850221 | USH2A | c.12645A>T (p.Glu4215Asp) | |
1 | g.215675266T>C | CA423428354 | USH2A | c.12645A>G (p.Glu4215=) | |
1 | g.215675266T>G | CA344850223 | USH2A | c.12645A>C (p.Glu4215Asp) | |
1 | g.215675267T>A | CA344850228 | USH2A | c.12644A>T (p.Glu4215Val) | |
1 | g.215675267T>C | CA344850239 | USH2A | c.12644A>G (p.Glu4215Gly) | |
1 | g.215675267T>G | CA344850240 | USH2A | c.12644A>C (p.Glu4215Ala) | |
1 | g.215675268C>A | CA37413050 | USH2A | c.12643G>T (p.Glu4215Ter) | dbSNP |
1 | g.215675268C= | CA1220373871 | USH2A | c.12643G= (p.Glu4215=) | |
1 | g.215675268C>G | CA344850243 | USH2A | c.12643G>C (p.Glu4215Gln) | |
1 | g.215675268C>T | CA344850242 | USH2A | c.12643G>A (p.Glu4215Lys) | |
1 | g.215675269T>A | CA423428361 | USH2A | c.12642A>T (p.Thr4214=) | |
1 | g.215675269T>C | CA423428363 | USH2A | c.12642A>G (p.Thr4214=) | |
1 | g.215675269T>G | CA423428366 | USH2A | c.12642A>C (p.Thr4214=) | gnomAD v4 |
1 | g.215675269_215675270delinsTG | CA1220373872 | USH2A | c.12641_12642delinsCA (p.Thr4214=) | |
1 | g.215675270del | CA1012179146 | USH2A | c.12641del (p.Thr4214LysfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.215675270G>A | CA344850246 | USH2A | c.12641C>T (p.Thr4214Ile) | |
1 | g.215675270G>C | CA344850247 | USH2A | c.12641C>G (p.Thr4214Arg) | |
1 | g.215675270G>T | CA344850248 | USH2A | c.12641C>A (p.Thr4214Lys) | |
1 | g.215675271T>A | CA344850249 | USH2A | c.12640A>T (p.Thr4214Ser) | |
1 | g.215675271T>C | CA1393433 | USH2A | c.12640A>G (p.Thr4214Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.215675271T>G | CA344850253 | USH2A | c.12640A>C (p.Thr4214Pro) | |
1 | g.215675271T= | CA1142032944 | USH2A | c.12640A= (p.Thr4214=) | |
1 | g.215675272G>A | CA423428371 | USH2A | c.12639C>T (p.Phe4213=) | |
1 | g.215675272G>C | CA344850255 | USH2A | c.12639C>G (p.Phe4213Leu) | |
1 | g.215675272G>T | CA344850257 | USH2A | c.12639C>A (p.Phe4213Leu) | |
1 | g.215675273A= | CA1220373873 | USH2A | c.12638T= (p.Phe4213=) | |
1 | g.215675273A>C | CA344850261 | USH2A | c.12638T>G (p.Phe4213Cys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.215675273A>G | CA344850263 | USH2A | c.12638T>C (p.Phe4213Ser) | |
1 | g.215675273A>T | CA344850270 | USH2A | c.12638T>A (p.Phe4213Tyr) | |
1 | g.215675276del | CA2574132915 | USH2A | c.12638del (p.Phe4213SerfsTer?) | |
1 | g.215675274A>C | CA344850273 | USH2A | c.12637T>G (p.Phe4213Val) | |
1 | g.215675274A>G | CA344850283 | USH2A | c.12637T>C (p.Phe4213Leu) | |
1 | g.215675274A>T | CA344850285 | USH2A | c.12637T>A (p.Phe4213Ile) | |
1 | g.215675275A>C | CA423428378 | USH2A | c.12636T>G (p.Val4212=) | |
1 | g.215675275A>G | CA423428379 | USH2A | c.12636T>C (p.Val4212=) | |
1 | g.215675275A>T | CA423428380 | USH2A | c.12636T>A (p.Val4212=) | |
1 | g.215675276A>C | CA344850294 | USH2A | c.12635T>G (p.Val4212Gly) | |
1 | g.215675276A>G | CA344850291 | USH2A | c.12635T>C (p.Val4212Ala) | gnomAD v4 |
1 | g.215675276A>T | CA344850289 | USH2A | c.12635T>A (p.Val4212Asp) | |
1 | g.215675277C>A | CA344850296 | USH2A | c.12634G>T (p.Val4212Phe) | ClinVar dbSNP |
1 | g.215675277C>G | CA344850297 | USH2A | c.12634G>C (p.Val4212Leu) | |
1 | g.215675277C>T | CA344850298 | USH2A | c.12634G>A (p.Val4212Ile) | |
1 | g.215675278A= | CA1148224963 | USH2A | c.12633T= (p.Ile4211=) | |
1 | g.215675278A>C | CA179507 | USH2A | c.12633T>G (p.Ile4211Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675278A>G | CA423428386 | USH2A | c.12633T>C (p.Ile4211=) | dbSNP gnomAD v4 |
1 | g.215675278A>T | CA423428385 | USH2A | c.12633T>A (p.Ile4211=) | |
1 | g.215675279A>C | CA344850299 | USH2A | c.12632T>G (p.Ile4211Ser) | |
1 | g.215675279A>G | CA344850300 | USH2A | c.12632T>C (p.Ile4211Thr) | |
1 | g.215675279A>T | CA344850301 | USH2A | c.12632T>A (p.Ile4211Asn) | |
1 | g.215675279_215675282delinsATTT | CA1220373874 | USH2A | c.12629_12632delinsAAAT (p.Lys4210=) | |
1 | g.215675279_215675286dup | CA2650500593 | USH2A | c.12625_12632dup (p.Ile4211MetfsTer?) | gnomAD v4 |
1 | g.215675280T>A | CA344850309 | USH2A | c.12631A>T (p.Ile4211Phe) | |
1 | g.215675280T>C | CA344850304 | USH2A | c.12631A>G (p.Ile4211Val) | dbSNP gnomAD v4 |
1 | g.215675280T>G | CA344850306 | USH2A | c.12631A>C (p.Ile4211Leu) | |
1 | g.215675280T= | CA1220373875 | USH2A | c.12631A= (p.Ile4211=) | |
1 | g.215675281_215675283del | CA1012179164 | USH2A | c.12629_12631del (p.Lys4210del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.215675281T>A | CA344850311 | USH2A | c.12630A>T (p.Lys4210Asn) | |
1 | g.215675281T>C | CA423428394 | USH2A | c.12630A>G (p.Lys4210=) | |
1 | g.215675281T>G | CA344850314 | USH2A | c.12630A>C (p.Lys4210Asn) | |
1 | g.215675282T>A | CA344850316 | USH2A | c.12629A>T (p.Lys4210Ile) | |
1 | g.215675282T>C | CA344850317 | USH2A | c.12629A>G (p.Lys4210Arg) | |
1 | g.215675282T>G | CA344850318 | USH2A | c.12629A>C (p.Lys4210Thr) | |
1 | g.215675283T>A | CA344850319 | USH2A | c.12628A>T (p.Lys4210Ter) | |
1 | g.215675283T>C | CA344850322 | USH2A | c.12628A>G (p.Lys4210Glu) | |
1 | g.215675283T>G | CA344850320 | USH2A | c.12628A>C (p.Lys4210Gln) | |
1 | g.215675284C>A | CA344850323 | USH2A | c.12627G>T (p.Glu4209Asp) | |
1 | g.215675284C>G | CA344850331 | USH2A | c.12627G>C (p.Glu4209Asp) | |
1 | g.215675284C>T | CA423428401 | USH2A | c.12627G>A (p.Glu4209=) | |
1 | g.215675285T>A | CA344850336 | USH2A | c.12626A>T (p.Glu4209Val) | |
1 | g.215675285T>C | CA344850339 | USH2A | c.12626A>G (p.Glu4209Gly) | |
1 | g.215675285T>G | CA344850342 | USH2A | c.12626A>C (p.Glu4209Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.215675285T= | CA1220373876 | USH2A | c.12626A= (p.Glu4209=) | |
1 | g.215675286C>A | CA344850346 | USH2A | c.12625G>T (p.Glu4209Ter) | |
1 | g.215675286C= | CA1141836214 | USH2A | c.12625G= (p.Glu4209=) | |
1 | g.215675286C>G | CA344850347 | USH2A | c.12625G>C (p.Glu4209Gln) | |
1 | g.215675286C>T | CA1393434 | USH2A | c.12625G>A (p.Glu4209Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675287G>A | CA1393435 | USH2A | c.12624C>T (p.Asp4208=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675287G>C | CA344850354 | USH2A | c.12624C>G (p.Asp4208Glu) | ClinVar |
1 | g.215675287G= | CA1144046426 | USH2A | c.12624C= (p.Asp4208=) | |
1 | g.215675287G>T | CA1393436 | USH2A | c.12624C>A (p.Asp4208Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675288T>A | CA344850358 | USH2A | c.12623A>T (p.Asp4208Val) | |
1 | g.215675288T>C | CA344850360 | USH2A | c.12623A>G (p.Asp4208Gly) | |
1 | g.215675288T>G | CA344850359 | USH2A | c.12623A>C (p.Asp4208Ala) | |
1 | g.215675289C>A | CA344850361 | USH2A | c.12622G>T (p.Asp4208Tyr) | |
1 | g.215675289C= | CA1144412103 | USH2A | c.12622G= (p.Asp4208=) | |
1 | g.215675289C>G | CA344850362 | USH2A | c.12622G>C (p.Asp4208His) | |
1 | g.215675289C>T | CA1393437 | USH2A | c.12622G>A (p.Asp4208Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.215675290G>A | CA1393438 | USH2A | c.12621C>T (p.Ala4207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.215675290G>C | CA423428420 | USH2A | c.12621C>G (p.Ala4207=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
1 | g.215675290G= | CA1143670890 | USH2A | c.12621C= (p.Ala4207=) | |
1 | g.215675290G>T | CA423428421 | USH2A | c.12621C>A (p.Ala4207=) | |
1 | g.215675291G>A | CA344850364 | USH2A | c.12620C>T (p.Ala4207Val) | |
1 | g.215675291G>C | CA344850371 | USH2A | c.12620C>G (p.Ala4207Gly) | |
1 | g.215675291G>T | CA344850372 | USH2A | c.12620C>A (p.Ala4207Asp) | gnomAD v4 |
1 | g.215675292C>A | CA344850374 | USH2A | c.12619G>T (p.Ala4207Ser) | |
1 | g.215675292C= | CA1220373877 | USH2A | c.12619G= (p.Ala4207=) | |
1 | g.215675292C>G | CA344850377 | USH2A | c.12619G>C (p.Ala4207Pro) | |
1 | g.215675292C>T | CA1393439 | USH2A | c.12619G>A (p.Ala4207Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215675293C>A | CA344850379 | USH2A | c.12618G>T (p.Gln4206His) | gnomAD v4 |
1 | g.215675293C= | CA1220373878 | USH2A | c.12618G= (p.Gln4206=) | |
1 | g.215675293C>G | CA344850382 | USH2A | c.12618G>C (p.Gln4206His) | |
1 | g.215675293C>T | CA423428427 | USH2A | c.12618G>A (p.Gln4206=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.215675294T>A | CA344850384 | USH2A | c.12617A>T (p.Gln4206Leu) | |
1 | g.215675294T>C | CA344850387 | USH2A | c.12617A>G (p.Gln4206Arg) | |
1 | g.215675294T>G | CA344850389 | USH2A | c.12617A>C (p.Gln4206Pro) | |
1 | g.215675294_215675296del | CA2569469968 | USH2A | c.12615_12617del (p.Ile4205_Gln4206delinsMet) | |
1 | g.215675295G>A | CA344850392 | USH2A | c.12616C>T (p.Gln4206Ter) | |
1 | g.215675295G>C | CA344850394 | USH2A | c.12616C>G (p.Gln4206Glu) | |
1 | g.215675295G>T | CA344850393 | USH2A | c.12616C>A (p.Gln4206Lys) | |
1 | g.215675296G>A | CA423428431 | USH2A | c.12615C>T (p.Ile4205=) | |
1 | g.215675296G>C | CA344850396 | USH2A | c.12615C>G (p.Ile4205Met) | |
1 | g.215675296G= | CA1220373879 | USH2A | c.12615C= (p.Ile4205=) | |
1 | g.215675296G>T | CA423428433 | USH2A | c.12615C>A (p.Ile4205=) | dbSNP COSMIC COSMIC |
1 | g.215675297A>C | CA344850399 | USH2A | c.12614T>G (p.Ile4205Ser) | |
1 | g.215675297A>G | CA344850401 | USH2A | c.12614T>C (p.Ile4205Thr) | ClinVar |
1 | g.215675297A>T | CA344850402 | USH2A | c.12614T>A (p.Ile4205Asn) | |
1 | g.215675298T>A | CA344850404 | USH2A | c.12613A>T (p.Ile4205Phe) | |
1 | g.215675298T>C | CA344850405 | USH2A | c.12613A>G (p.Ile4205Val) | |
1 | g.215675298T>G | CA344850407 | USH2A | c.12613A>C (p.Ile4205Leu) | |
1 | g.215675299T>A | CA423428441 | USH2A | c.12612A>T (p.Thr4204=) | dbSNP |
1 | g.215675299T>C | CA181134 | USH2A | c.12612A>G (p.Thr4204=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675299T>G | CA423428442 | USH2A | c.12612A>C (p.Thr4204=) | |
1 | g.215675299T= | CA179509 | USH2A | c.12612A= (p.Thr4204=) | |
1 | g.215675299_215675300delinsCA | CA2573131588 | USH2A | c.12611_12612delinsTG (p.Thr4204Met) | ClinVar |
1 | g.215675300G>A | CA1393440 | USH2A | c.12611C>T (p.Thr4204Ile) c.12611C>T (p.Thr4204Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.215675300G>C | CA344850413 | USH2A | c.12611C>G (p.Thr4204Arg) | |
1 | g.215675300G= | CA1220373880 | USH2A | c.12611C= (p.Thr4204=) | |
1 | g.215675300G>T | CA344850411 | USH2A | c.12611C>A (p.Thr4204Lys) | |
1 | g.215675301T>A | CA344850416 | USH2A | c.12610A>T (p.Thr4204Ser) | |
1 | g.215675301T>C | CA344850418 | USH2A | c.12610A>G (p.Thr4204Ala) | dbSNP gnomAD v2 |
1 | g.215675301T>G | CA344850424 | USH2A | c.12610A>C (p.Thr4204Pro) | |
1 | g.215675301T= | CA1220373881 | USH2A | c.12610A= (p.Thr4204=) | |
1 | g.215675301_215675302insTGCT | CA2531373683 | USH2A | c.12610_12611insGCAA (p.Thr4204SerfsTer15) | |
1 | g.215675302C>A | CA344850426 | USH2A | c.12609G>T (p.Gln4203His) | |
1 | g.215675302C>G | CA344850427 | USH2A | c.12609G>C (p.Gln4203His) | |
1 | g.215675302C>T | CA423428448 | USH2A | c.12609G>A (p.Gln4203=) | COSMIC COSMIC |
1 | g.215675303T>A | CA344850428 | USH2A | c.12608A>T (p.Gln4203Leu) | |
1 | g.215675303T>C | CA143296 | USH2A | c.12608A>G (p.Gln4203Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.215675303T>G | CA344850433 | USH2A | c.12608A>C (p.Gln4203Pro) | |
1 | g.215675303T= | CA1142248300 | USH2A | c.12608A= (p.Gln4203=) | |
1 | g.215675304G>A | CA344850437 | USH2A | c.12607C>T (p.Gln4203Ter) | |
1 | g.215675304G>C | CA344850447 | USH2A | c.12607C>G (p.Gln4203Glu) | |
1 | g.215675304G>T | CA344850450 | USH2A | c.12607C>A (p.Gln4203Lys) | |
1 | g.215675305A>C | CA344850452 | USH2A | c.12606T>G (p.Asn4202Lys) | |
1 | g.215675305A>G | CA423428457 | USH2A | c.12606T>C (p.Asn4202=) | |
1 | g.215675305A>T | CA344850454 | USH2A | c.12606T>A (p.Asn4202Lys) | gnomAD v4 |
1 | g.215675305_215675306del | CA2547613001 | USH2A | c.12605_12606del (p.Asn4202ThrfsTer15) | |
1 | g.215675306T>A | CA344850462 | USH2A | c.12605A>T (p.Asn4202Ile) | |
1 | g.215675306T>C | CA344850460 | USH2A | c.12605A>G (p.Asn4202Ser) | |
1 | g.215675306T>G | CA344850459 | USH2A | c.12605A>C (p.Asn4202Thr) | |
1 | g.215675306_215675315del | CA1012179195 | USH2A | c.12596_12605del (p.Ala4199ValfsTer?) | gnomAD v3 gnomAD v4 |
1 | g.215675307T>A | CA344850465 | USH2A | c.12604A>T (p.Asn4202Tyr) | |
1 | g.215675307T>C | CA344850467 | USH2A | c.12604A>G (p.Asn4202Asp) | |
1 | g.215675307T>G | CA344850469 | USH2A | c.12604A>C (p.Asn4202His) | |
1 | g.215675308T>A | CA423428464 | USH2A | c.12603A>T (p.Gly4201=) | |
1 | g.215675308T>C | CA423428467 | USH2A | c.12603A>G (p.Gly4201=) | |
1 | g.215675308T>G | CA423428468 | USH2A | c.12603A>C (p.Gly4201=) | |
1 | g.215675308_215675309del | CA913072757 | USH2A | c.12602_12603del (p.Gly4201GlufsTer16) | |
1 | g.215675308_215675309delinsTC | CA1220373882 | USH2A | c.12602_12603delinsGA (p.Gly4201=) | |
1 | g.215675309C>A | CA344850470 | USH2A | c.12602G>T (p.Gly4201Val) | |
1 | g.215675309C>G | CA344850471 | USH2A | c.12602G>C (p.Gly4201Ala) | |
1 | g.215675309C>T | CA344850474 | USH2A | c.12602G>A (p.Gly4201Glu) | |
1 | g.215675312del | CA658822645 | USH2A | c.12602del (p.Gly4201GlufsTer?) | ClinVar dbSNP gnomAD v4 |
1 | g.215675310C>A | CA344850479 | USH2A | c.12601G>T (p.Gly4201Ter) | |
1 | g.215675310C>G | CA344850481 | USH2A | c.12601G>C (p.Gly4201Arg) | |
1 | g.215675310C>T | CA344850484 | USH2A | c.12601G>A (p.Gly4201Arg) | COSMIC |
1 | g.215675311C>A | CA344850485 | USH2A | c.12600G>T (p.Trp4200Cys) | |
1 | g.215675311C>G | CA344850486 | USH2A | c.12600G>C (p.Trp4200Cys) | |
1 | g.215675311C>T | CA344850487 | USH2A | c.12600G>A (p.Trp4200Ter) | COSMIC |
1 | g.215675311_215675312insTG | CA2518843701 | USH2A | c.12599_12600insCA (p.Trp4200CysfsTer?) | |
1 | g.215675312C>A | CA344850492 | USH2A | c.12599G>T (p.Trp4200Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675312C= | CA1220373883 | USH2A | c.12599G= (p.Trp4200=) | |
1 | g.215675312C>G | CA344850491 | USH2A | c.12599G>C (p.Trp4200Ser) | COSMIC COSMIC |
1 | g.215675312C>T | CA344850490 | USH2A | c.12599G>A (p.Trp4200Ter) | ClinVar |
1 | g.215675313A= | CA1141381459 | USH2A | c.12598T= (p.Trp4200=) | |
1 | g.215675313A>C | CA182586 | USH2A | c.12598T>G (p.Trp4200Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675313A>G | CA344850498 | USH2A | c.12598T>C (p.Trp4200Arg) | gnomAD v4 |
1 | g.215675313A>T | CA344850495 | USH2A | c.12598T>A (p.Trp4200Arg) | |
1 | g.215675314del | CA2513118951 | USH2A | c.12598del (p.Trp4200GlyfsTer?) | |
1 | g.215675314A= | CA1143530676 | USH2A | c.12597T= (p.Ala4199=) | |
1 | g.215675314A>C | CA423428477 | USH2A | c.12597T>G (p.Ala4199=) | |
1 | g.215675314A>G | CA1393441 | USH2A | c.12597T>C (p.Ala4199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675314A>T | CA423428478 | USH2A | c.12597T>A (p.Ala4199=) | |
1 | g.215675315G>A | CA1393442 | USH2A | c.12596C>T (p.Ala4199Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215675315G>C | CA344850502 | USH2A | c.12596C>G (p.Ala4199Gly) | |
1 | g.215675315G= | CA1220373884 | USH2A | c.12596C= (p.Ala4199=) | |
1 | g.215675315G>T | CA344850503 | USH2A | c.12596C>A (p.Ala4199Asp) | |
1 | g.215675316C>A | CA344850504 | USH2A | c.12595G>T (p.Ala4199Ser) | |
1 | g.215675316C= | CA1220373885 | USH2A | c.12595G= (p.Ala4199=) | |
1 | g.215675316C>G | CA344850505 | USH2A | c.12595G>C (p.Ala4199Pro) | COSMIC COSMIC |
1 | g.215675316C>T | CA344850506 | USH2A | c.12595G>A (p.Ala4199Thr) | dbSNP gnomAD v2 gnomAD v4 |