| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.71271784A>C | CA371468814 | EYA1 | c.940T>G (p.Ser314Ala) c.838T>G (p.Ser280Ala) c.925T>G (p.Ser309Ala) c.*219T>G (n.*219T>G) c.176T>G n.1403T>G c.*707T>G (n.*707T>G) c.1027T>G (p.Ser343Ala) c.1012T>G (p.Ser338Ala) c.1009T>G (p.Ser337Ala) c.922T>G (p.Ser308Ala) c.841T>G (p.Ser281Ala) c.937T>G (p.Ser313Ala) c.-144T>G (n.-144T>G) n.1435T>G c.574T>G (p.Ser192Ala) c.877T>G (p.Ser293Ala) c.589T>G (p.Ser197Ala) c.1024T>G (p.Ser342Ala) | COSMIC COSMIC |
| 8 | g.71271784A>G | CA371468816 | EYA1 | c.940T>C (p.Ser314Pro) c.838T>C (p.Ser280Pro) c.925T>C (p.Ser309Pro) c.*219T>C (n.*219T>C) c.176T>C n.1403T>C c.*707T>C (n.*707T>C) c.1027T>C (p.Ser343Pro) c.1012T>C (p.Ser338Pro) c.1009T>C (p.Ser337Pro) c.922T>C (p.Ser308Pro) c.841T>C (p.Ser281Pro) c.937T>C (p.Ser313Pro) c.-144T>C (n.-144T>C) n.1435T>C c.574T>C (p.Ser192Pro) c.877T>C (p.Ser293Pro) c.589T>C (p.Ser197Pro) c.1024T>C (p.Ser342Pro) | |
| 8 | g.71271784A>T | CA371468818 | EYA1 | c.940T>A (p.Ser314Thr) c.838T>A (p.Ser280Thr) c.925T>A (p.Ser309Thr) c.*219T>A (n.*219T>A) c.176T>A n.1403T>A c.*707T>A (n.*707T>A) c.1027T>A (p.Ser343Thr) c.1012T>A (p.Ser338Thr) c.1009T>A (p.Ser337Thr) c.922T>A (p.Ser308Thr) c.841T>A (p.Ser281Thr) c.937T>A (p.Ser313Thr) c.-144T>A (n.-144T>A) n.1435T>A c.574T>A (p.Ser192Thr) c.877T>A (p.Ser293Thr) c.589T>A (p.Ser197Thr) c.1024T>A (p.Ser342Thr) | |
| 8 | g.71271785A>C | CA461327415 | EYA1 | c.939T>G (p.Pro313=) c.837T>G (p.Pro279=) c.924T>G (p.Pro308=) c.*218T>G (n.*218T>G) c.175T>G n.1402T>G c.*706T>G (n.*706T>G) c.1026T>G (p.Pro342=) c.1011T>G (p.Pro337=) c.1008T>G (p.Pro336=) c.921T>G (p.Pro307=) c.840T>G (p.Pro280=) c.936T>G (p.Pro312=) c.-145T>G (n.-145T>G) n.1434T>G c.573T>G (p.Pro191=) c.876T>G (p.Pro292=) c.588T>G (p.Pro196=) c.1023T>G (p.Pro341=) | |
| 8 | g.71271785A>G | CA461327416 | EYA1 | c.939T>C (p.Pro313=) c.837T>C (p.Pro279=) c.924T>C (p.Pro308=) c.*218T>C (n.*218T>C) c.175T>C n.1402T>C c.*706T>C (n.*706T>C) c.1026T>C (p.Pro342=) c.1011T>C (p.Pro337=) c.1008T>C (p.Pro336=) c.921T>C (p.Pro307=) c.840T>C (p.Pro280=) c.936T>C (p.Pro312=) c.-145T>C (n.-145T>C) n.1434T>C c.573T>C (p.Pro191=) c.876T>C (p.Pro292=) c.588T>C (p.Pro196=) c.1023T>C (p.Pro341=) | |
| 8 | g.71271785A>T | CA461327417 | EYA1 | c.939T>A (p.Pro313=) c.837T>A (p.Pro279=) c.924T>A (p.Pro308=) c.*218T>A (n.*218T>A) c.175T>A n.1402T>A c.*706T>A (n.*706T>A) c.1026T>A (p.Pro342=) c.1011T>A (p.Pro337=) c.1008T>A (p.Pro336=) c.921T>A (p.Pro307=) c.840T>A (p.Pro280=) c.936T>A (p.Pro312=) c.-145T>A (n.-145T>A) n.1434T>A c.573T>A (p.Pro191=) c.876T>A (p.Pro292=) c.588T>A (p.Pro196=) c.1023T>A (p.Pro341=) | |
| 8 | g.71271786G>A | CA179250628 | EYA1 | c.938C>T (p.Pro313Leu) c.836C>T (p.Pro279Leu) c.923C>T (p.Pro308Leu) c.*217C>T (n.*217C>T) c.174C>T n.1401C>T c.*705C>T (n.*705C>T) c.1025C>T (p.Pro342Leu) c.1010C>T (p.Pro337Leu) c.1007C>T (p.Pro336Leu) c.920C>T (p.Pro307Leu) c.839C>T (p.Pro280Leu) c.935C>T (p.Pro312Leu) c.-146C>T (n.-146C>T) n.1433C>T c.572C>T (p.Pro191Leu) c.875C>T (p.Pro292Leu) c.587C>T (p.Pro196Leu) c.1022C>T (p.Pro341Leu) | dbSNP |
| 8 | g.71271786G>C | CA371468820 | EYA1 | c.938C>G (p.Pro313Arg) c.836C>G (p.Pro279Arg) c.923C>G (p.Pro308Arg) c.*217C>G (n.*217C>G) c.174C>G n.1401C>G c.*705C>G (n.*705C>G) c.1025C>G (p.Pro342Arg) c.1010C>G (p.Pro337Arg) c.1007C>G (p.Pro336Arg) c.920C>G (p.Pro307Arg) c.839C>G (p.Pro280Arg) c.935C>G (p.Pro312Arg) c.-146C>G (n.-146C>G) n.1433C>G c.572C>G (p.Pro191Arg) c.875C>G (p.Pro292Arg) c.587C>G (p.Pro196Arg) c.1022C>G (p.Pro341Arg) | |
| 8 | g.71271786G= | CA1792716226 | EYA1 | c.938C= (p.Pro313=) c.836C= (p.Pro279=) c.923C= (p.Pro308=) c.*217C= (n.*217C=) c.174C= n.1401C= c.*705C= (n.*705C=) c.1025C= (p.Pro342=) c.1010C= (p.Pro337=) c.1007C= (p.Pro336=) c.920C= (p.Pro307=) c.839C= (p.Pro280=) c.935C= (p.Pro312=) c.-146C= (n.-146C=) n.1433C= c.572C= (p.Pro191=) c.875C= (p.Pro292=) c.587C= (p.Pro196=) c.1022C= (p.Pro341=) | |
| 8 | g.71271786G>T | CA371468822 | EYA1 | c.938C>A (p.Pro313His) c.836C>A (p.Pro279His) c.923C>A (p.Pro308His) c.*217C>A (n.*217C>A) c.174C>A n.1401C>A c.*705C>A (n.*705C>A) c.1025C>A (p.Pro342His) c.1010C>A (p.Pro337His) c.1007C>A (p.Pro336His) c.920C>A (p.Pro307His) c.839C>A (p.Pro280His) c.935C>A (p.Pro312His) c.-146C>A (n.-146C>A) n.1433C>A c.572C>A (p.Pro191His) c.875C>A (p.Pro292His) c.587C>A (p.Pro196His) c.1022C>A (p.Pro341His) | |
| 8 | g.71271787G>A | CA371468824 | EYA1 | c.937C>T (p.Pro313Ser) c.835C>T (p.Pro279Ser) c.922C>T (p.Pro308Ser) c.*216C>T (n.*216C>T) c.173C>T n.1400C>T c.*704C>T (n.*704C>T) c.1024C>T (p.Pro342Ser) c.1009C>T (p.Pro337Ser) c.1006C>T (p.Pro336Ser) c.919C>T (p.Pro307Ser) c.838C>T (p.Pro280Ser) c.934C>T (p.Pro312Ser) c.-147C>T (n.-147C>T) n.1432C>T c.571C>T (p.Pro191Ser) c.874C>T (p.Pro292Ser) c.586C>T (p.Pro196Ser) c.1021C>T (p.Pro341Ser) | gnomAD v4 |
| 8 | g.71271787G>C | CA371468825 | EYA1 | c.937C>G (p.Pro313Ala) c.835C>G (p.Pro279Ala) c.922C>G (p.Pro308Ala) c.*216C>G (n.*216C>G) c.173C>G n.1400C>G c.*704C>G (n.*704C>G) c.1024C>G (p.Pro342Ala) c.1009C>G (p.Pro337Ala) c.1006C>G (p.Pro336Ala) c.919C>G (p.Pro307Ala) c.838C>G (p.Pro280Ala) c.934C>G (p.Pro312Ala) c.-147C>G (n.-147C>G) n.1432C>G c.571C>G (p.Pro191Ala) c.874C>G (p.Pro292Ala) c.586C>G (p.Pro196Ala) c.1021C>G (p.Pro341Ala) | |
| 8 | g.71271787G>T | CA371468827 | EYA1 | c.937C>A (p.Pro313Thr) c.835C>A (p.Pro279Thr) c.922C>A (p.Pro308Thr) c.*216C>A (n.*216C>A) c.173C>A n.1400C>A c.*704C>A (n.*704C>A) c.1024C>A (p.Pro342Thr) c.1009C>A (p.Pro337Thr) c.1006C>A (p.Pro336Thr) c.919C>A (p.Pro307Thr) c.838C>A (p.Pro280Thr) c.934C>A (p.Pro312Thr) c.-147C>A (n.-147C>A) n.1432C>A c.571C>A (p.Pro191Thr) c.874C>A (p.Pro292Thr) c.586C>A (p.Pro196Thr) c.1021C>A (p.Pro341Thr) | |
| 8 | g.71271788A= | CA1792716227 | EYA1 | c.936T= (p.Asn312=) c.834T= (p.Asn278=) c.921T= (p.Asn307=) c.*215T= (n.*215T=) c.172T= n.1399T= c.*703T= (n.*703T=) c.1023T= (p.Asn341=) c.1008T= (p.Asn336=) c.1005T= (p.Asn335=) c.918T= (p.Asn306=) c.837T= (p.Asn279=) c.933T= (p.Asn311=) c.-148T= (n.-148T=) n.1431T= c.570T= (p.Asn190=) c.873T= (p.Asn291=) c.585T= (p.Asn195=) c.1020T= (p.Asn340=) | |
| 8 | g.71271788A>C | CA371468830 | EYA1 | c.936T>G (p.Asn312Lys) c.834T>G (p.Asn278Lys) c.921T>G (p.Asn307Lys) c.*215T>G (n.*215T>G) c.172T>G n.1399T>G c.*703T>G (n.*703T>G) c.1023T>G (p.Asn341Lys) c.1008T>G (p.Asn336Lys) c.1005T>G (p.Asn335Lys) c.918T>G (p.Asn306Lys) c.837T>G (p.Asn279Lys) c.933T>G (p.Asn311Lys) c.-148T>G (n.-148T>G) n.1431T>G c.570T>G (p.Asn190Lys) c.873T>G (p.Asn291Lys) c.585T>G (p.Asn195Lys) c.1020T>G (p.Asn340Lys) | |
| 8 | g.71271788A>G | CA4779618 | EYA1 | c.936T>C (p.Asn312=) c.834T>C (p.Asn278=) c.921T>C (p.Asn307=) c.*215T>C (n.*215T>C) c.172T>C n.1399T>C c.*703T>C (n.*703T>C) c.1023T>C (p.Asn341=) c.1008T>C (p.Asn336=) c.1005T>C (p.Asn335=) c.918T>C (p.Asn306=) c.837T>C (p.Asn279=) c.933T>C (p.Asn311=) c.-148T>C (n.-148T>C) n.1431T>C c.570T>C (p.Asn190=) c.873T>C (p.Asn291=) c.585T>C (p.Asn195=) c.1020T>C (p.Asn340=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.71271788A>T | CA371468829 | EYA1 | c.936T>A (p.Asn312Lys) c.834T>A (p.Asn278Lys) c.921T>A (p.Asn307Lys) c.*215T>A (n.*215T>A) c.172T>A n.1399T>A c.*703T>A (n.*703T>A) c.1023T>A (p.Asn341Lys) c.1008T>A (p.Asn336Lys) c.1005T>A (p.Asn335Lys) c.918T>A (p.Asn306Lys) c.837T>A (p.Asn279Lys) c.933T>A (p.Asn311Lys) c.-148T>A (n.-148T>A) n.1431T>A c.570T>A (p.Asn190Lys) c.873T>A (p.Asn291Lys) c.585T>A (p.Asn195Lys) c.1020T>A (p.Asn340Lys) | COSMIC COSMIC |
| 8 | g.71271789T>A | CA371468831 | EYA1 | c.935A>T (p.Asn312Ile) c.833A>T (p.Asn278Ile) c.920A>T (p.Asn307Ile) c.*214A>T (n.*214A>T) c.171A>T n.1398A>T c.*702A>T (n.*702A>T) c.1022A>T (p.Asn341Ile) c.1007A>T (p.Asn336Ile) c.1004A>T (p.Asn335Ile) c.917A>T (p.Asn306Ile) c.836A>T (p.Asn279Ile) c.932A>T (p.Asn311Ile) c.-149A>T (n.-149A>T) n.1430A>T c.569A>T (p.Asn190Ile) c.872A>T (p.Asn291Ile) c.584A>T (p.Asn195Ile) c.1019A>T (p.Asn340Ile) | |
| 8 | g.71271789T>C | CA371468833 | EYA1 | c.935A>G (p.Asn312Ser) c.833A>G (p.Asn278Ser) c.920A>G (p.Asn307Ser) c.*214A>G (n.*214A>G) c.171A>G n.1398A>G c.*702A>G (n.*702A>G) c.1022A>G (p.Asn341Ser) c.1007A>G (p.Asn336Ser) c.1004A>G (p.Asn335Ser) c.917A>G (p.Asn306Ser) c.836A>G (p.Asn279Ser) c.932A>G (p.Asn311Ser) c.-149A>G (n.-149A>G) n.1430A>G c.569A>G (p.Asn190Ser) c.872A>G (p.Asn291Ser) c.584A>G (p.Asn195Ser) c.1019A>G (p.Asn340Ser) | gnomAD v4 |
| 8 | g.71271789T>G | CA371468834 | EYA1 | c.935A>C (p.Asn312Thr) c.833A>C (p.Asn278Thr) c.920A>C (p.Asn307Thr) c.*214A>C (n.*214A>C) c.171A>C n.1398A>C c.*702A>C (n.*702A>C) c.1022A>C (p.Asn341Thr) c.1007A>C (p.Asn336Thr) c.1004A>C (p.Asn335Thr) c.917A>C (p.Asn306Thr) c.836A>C (p.Asn279Thr) c.932A>C (p.Asn311Thr) c.-149A>C (n.-149A>C) n.1430A>C c.569A>C (p.Asn190Thr) c.872A>C (p.Asn291Thr) c.584A>C (p.Asn195Thr) c.1019A>C (p.Asn340Thr) | |
| 8 | g.71271790T>A | CA371468836 | EYA1 | c.934A>T (p.Asn312Tyr) c.832A>T (p.Asn278Tyr) c.919A>T (p.Asn307Tyr) c.*213A>T (n.*213A>T) c.170A>T n.1397A>T c.*701A>T (n.*701A>T) c.1021A>T (p.Asn341Tyr) c.1006A>T (p.Asn336Tyr) c.1003A>T (p.Asn335Tyr) c.916A>T (p.Asn306Tyr) c.835A>T (p.Asn279Tyr) c.931A>T (p.Asn311Tyr) c.-150A>T (n.-150A>T) n.1429A>T c.568A>T (p.Asn190Tyr) c.871A>T (p.Asn291Tyr) c.583A>T (p.Asn195Tyr) c.1018A>T (p.Asn340Tyr) | |
| 8 | g.71271790T>C | CA371468837 | EYA1 | c.934A>G (p.Asn312Asp) c.832A>G (p.Asn278Asp) c.919A>G (p.Asn307Asp) c.*213A>G (n.*213A>G) c.170A>G n.1397A>G c.*701A>G (n.*701A>G) c.1021A>G (p.Asn341Asp) c.1006A>G (p.Asn336Asp) c.1003A>G (p.Asn335Asp) c.916A>G (p.Asn306Asp) c.835A>G (p.Asn279Asp) c.931A>G (p.Asn311Asp) c.-150A>G (n.-150A>G) n.1429A>G c.568A>G (p.Asn190Asp) c.871A>G (p.Asn291Asp) c.583A>G (p.Asn195Asp) c.1018A>G (p.Asn340Asp) | |
| 8 | g.71271790T>G | CA371468839 | EYA1 | c.934A>C (p.Asn312His) c.832A>C (p.Asn278His) c.919A>C (p.Asn307His) c.*213A>C (n.*213A>C) c.170A>C n.1397A>C c.*701A>C (n.*701A>C) c.1021A>C (p.Asn341His) c.1006A>C (p.Asn336His) c.1003A>C (p.Asn335His) c.916A>C (p.Asn306His) c.835A>C (p.Asn279His) c.931A>C (p.Asn311His) c.-150A>C (n.-150A>C) n.1429A>C c.568A>C (p.Asn190His) c.871A>C (p.Asn291His) c.583A>C (p.Asn195His) c.1018A>C (p.Asn340His) | |
| 8 | g.71271791A= | CA1792716228 | EYA1 | c.933T= (p.Asn311=) c.831T= (p.Asn277=) c.918T= (p.Asn306=) c.*212T= (n.*212T=) c.169T= n.1396T= c.*700T= (n.*700T=) c.1020T= (p.Asn340=) c.1005T= (p.Asn335=) c.1002T= (p.Asn334=) c.915T= (p.Asn305=) c.834T= (p.Asn278=) c.930T= (p.Asn310=) c.-151T= (n.-151T=) n.1428T= c.567T= (p.Asn189=) c.870T= (p.Asn290=) c.582T= (p.Asn194=) c.1017T= (p.Asn339=) | |
| 8 | g.71271791A>C | CA371468840 | EYA1 | c.933T>G (p.Asn311Lys) c.831T>G (p.Asn277Lys) c.918T>G (p.Asn306Lys) c.*212T>G (n.*212T>G) c.169T>G n.1396T>G c.*700T>G (n.*700T>G) c.1020T>G (p.Asn340Lys) c.1005T>G (p.Asn335Lys) c.1002T>G (p.Asn334Lys) c.915T>G (p.Asn305Lys) c.834T>G (p.Asn278Lys) c.930T>G (p.Asn310Lys) c.-151T>G (n.-151T>G) n.1428T>G c.567T>G (p.Asn189Lys) c.870T>G (p.Asn290Lys) c.582T>G (p.Asn194Lys) c.1017T>G (p.Asn339Lys) | |
| 8 | g.71271791A>G | CA461327418 | EYA1 | c.933T>C (p.Asn311=) c.831T>C (p.Asn277=) c.918T>C (p.Asn306=) c.*212T>C (n.*212T>C) c.169T>C n.1396T>C c.*700T>C (n.*700T>C) c.1020T>C (p.Asn340=) c.1005T>C (p.Asn335=) c.1002T>C (p.Asn334=) c.915T>C (p.Asn305=) c.834T>C (p.Asn278=) c.930T>C (p.Asn310=) c.-151T>C (n.-151T>C) n.1428T>C c.567T>C (p.Asn189=) c.870T>C (p.Asn290=) c.582T>C (p.Asn194=) c.1017T>C (p.Asn339=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.71271791A>T | CA371468842 | EYA1 | c.933T>A (p.Asn311Lys) c.831T>A (p.Asn277Lys) c.918T>A (p.Asn306Lys) c.*212T>A (n.*212T>A) c.169T>A n.1396T>A c.*700T>A (n.*700T>A) c.1020T>A (p.Asn340Lys) c.1005T>A (p.Asn335Lys) c.1002T>A (p.Asn334Lys) c.915T>A (p.Asn305Lys) c.834T>A (p.Asn278Lys) c.930T>A (p.Asn310Lys) c.-151T>A (n.-151T>A) n.1428T>A c.567T>A (p.Asn189Lys) c.870T>A (p.Asn290Lys) c.582T>A (p.Asn194Lys) c.1017T>A (p.Asn339Lys) | |
| 8 | g.71271792T>A | CA371468845 | EYA1 | c.932A>T (p.Asn311Ile) c.830A>T (p.Asn277Ile) c.917A>T (p.Asn306Ile) c.*211A>T (n.*211A>T) c.168A>T n.1395A>T c.*699A>T (n.*699A>T) c.1019A>T (p.Asn340Ile) c.1004A>T (p.Asn335Ile) c.1001A>T (p.Asn334Ile) c.914A>T (p.Asn305Ile) c.833A>T (p.Asn278Ile) c.929A>T (p.Asn310Ile) c.-152A>T (n.-152A>T) n.1427A>T c.566A>T (p.Asn189Ile) c.869A>T (p.Asn290Ile) c.581A>T (p.Asn194Ile) c.1016A>T (p.Asn339Ile) | |
| 8 | g.71271792T>C | CA371468846 | EYA1 | c.932A>G (p.Asn311Ser) c.830A>G (p.Asn277Ser) c.917A>G (p.Asn306Ser) c.*211A>G (n.*211A>G) c.168A>G n.1395A>G c.*699A>G (n.*699A>G) c.1019A>G (p.Asn340Ser) c.1004A>G (p.Asn335Ser) c.1001A>G (p.Asn334Ser) c.914A>G (p.Asn305Ser) c.833A>G (p.Asn278Ser) c.929A>G (p.Asn310Ser) c.-152A>G (n.-152A>G) n.1427A>G c.566A>G (p.Asn189Ser) c.869A>G (p.Asn290Ser) c.581A>G (p.Asn194Ser) c.1016A>G (p.Asn339Ser) | gnomAD v4 |
| 8 | g.71271792T>G | CA371468848 | EYA1 | c.932A>C (p.Asn311Thr) c.830A>C (p.Asn277Thr) c.917A>C (p.Asn306Thr) c.*211A>C (n.*211A>C) c.168A>C n.1395A>C c.*699A>C (n.*699A>C) c.1019A>C (p.Asn340Thr) c.1004A>C (p.Asn335Thr) c.1001A>C (p.Asn334Thr) c.914A>C (p.Asn305Thr) c.833A>C (p.Asn278Thr) c.929A>C (p.Asn310Thr) c.-152A>C (n.-152A>C) n.1427A>C c.566A>C (p.Asn189Thr) c.869A>C (p.Asn290Thr) c.581A>C (p.Asn194Thr) c.1016A>C (p.Asn339Thr) | |
| 8 | g.71271793T>A | CA371468853 | EYA1 | c.931A>T (p.Asn311Tyr) c.829A>T (p.Asn277Tyr) c.916A>T (p.Asn306Tyr) c.*210A>T (n.*210A>T) c.167A>T n.1394A>T c.*698A>T (n.*698A>T) c.1018A>T (p.Asn340Tyr) c.1003A>T (p.Asn335Tyr) c.1000A>T (p.Asn334Tyr) c.913A>T (p.Asn305Tyr) c.832A>T (p.Asn278Tyr) c.928A>T (p.Asn310Tyr) c.-153A>T (n.-153A>T) n.1426A>T c.565A>T (p.Asn189Tyr) c.868A>T (p.Asn290Tyr) c.580A>T (p.Asn194Tyr) c.1015A>T (p.Asn339Tyr) | |
| 8 | g.71271793T>C | CA371468852 | EYA1 | c.931A>G (p.Asn311Asp) c.829A>G (p.Asn277Asp) c.916A>G (p.Asn306Asp) c.*210A>G (n.*210A>G) c.167A>G n.1394A>G c.*698A>G (n.*698A>G) c.1018A>G (p.Asn340Asp) c.1003A>G (p.Asn335Asp) c.1000A>G (p.Asn334Asp) c.913A>G (p.Asn305Asp) c.832A>G (p.Asn278Asp) c.928A>G (p.Asn310Asp) c.-153A>G (n.-153A>G) n.1426A>G c.565A>G (p.Asn189Asp) c.868A>G (p.Asn290Asp) c.580A>G (p.Asn194Asp) c.1015A>G (p.Asn339Asp) | |
| 8 | g.71271793T>G | CA371468850 | EYA1 | c.931A>C (p.Asn311His) c.829A>C (p.Asn277His) c.916A>C (p.Asn306His) c.*210A>C (n.*210A>C) c.167A>C n.1394A>C c.*698A>C (n.*698A>C) c.1018A>C (p.Asn340His) c.1003A>C (p.Asn335His) c.1000A>C (p.Asn334His) c.913A>C (p.Asn305His) c.832A>C (p.Asn278His) c.928A>C (p.Asn310His) c.-153A>C (n.-153A>C) n.1426A>C c.565A>C (p.Asn189His) c.868A>C (p.Asn290His) c.580A>C (p.Asn194His) c.1015A>C (p.Asn339His) | |
| 8 | g.71271794G>A | CA4779619 | EYA1 | c.930C>T (p.Asn310=) c.828C>T (p.Asn276=) c.915C>T (p.Asn305=) c.*209C>T (n.*209C>T) c.166C>T n.1393C>T c.*697C>T (n.*697C>T) c.1017C>T (p.Asn339=) c.1002C>T (p.Asn334=) c.999C>T (p.Asn333=) c.912C>T (p.Asn304=) c.831C>T (p.Asn277=) c.927C>T (p.Asn309=) c.-154C>T (n.-154C>T) n.1425C>T c.564C>T (p.Asn188=) c.867C>T (p.Asn289=) c.579C>T (p.Asn193=) c.1014C>T (p.Asn338=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.71271794G>C | CA371468858 | EYA1 | c.930C>G (p.Asn310Lys) c.828C>G (p.Asn276Lys) c.915C>G (p.Asn305Lys) c.*209C>G (n.*209C>G) c.166C>G n.1393C>G c.*697C>G (n.*697C>G) c.1017C>G (p.Asn339Lys) c.1002C>G (p.Asn334Lys) c.999C>G (p.Asn333Lys) c.912C>G (p.Asn304Lys) c.831C>G (p.Asn277Lys) c.927C>G (p.Asn309Lys) c.-154C>G (n.-154C>G) n.1425C>G c.564C>G (p.Asn188Lys) c.867C>G (p.Asn289Lys) c.579C>G (p.Asn193Lys) c.1014C>G (p.Asn338Lys) | |
| 8 | g.71271794G= | CA1792716229 | EYA1 | c.930C= (p.Asn310=) c.828C= (p.Asn276=) c.915C= (p.Asn305=) c.*209C= (n.*209C=) c.166C= n.1393C= c.*697C= (n.*697C=) c.1017C= (p.Asn339=) c.1002C= (p.Asn334=) c.999C= (p.Asn333=) c.912C= (p.Asn304=) c.831C= (p.Asn277=) c.927C= (p.Asn309=) c.-154C= (n.-154C=) n.1425C= c.564C= (p.Asn188=) c.867C= (p.Asn289=) c.579C= (p.Asn193=) c.1014C= (p.Asn338=) | |
| 8 | g.71271794G>T | CA371468855 | EYA1 | c.930C>A (p.Asn310Lys) c.828C>A (p.Asn276Lys) c.915C>A (p.Asn305Lys) c.*209C>A (n.*209C>A) c.166C>A n.1393C>A c.*697C>A (n.*697C>A) c.1017C>A (p.Asn339Lys) c.1002C>A (p.Asn334Lys) c.999C>A (p.Asn333Lys) c.912C>A (p.Asn304Lys) c.831C>A (p.Asn277Lys) c.927C>A (p.Asn309Lys) c.-154C>A (n.-154C>A) n.1425C>A c.564C>A (p.Asn188Lys) c.867C>A (p.Asn289Lys) c.579C>A (p.Asn193Lys) c.1014C>A (p.Asn338Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.71271794_71271795delinsGT | CA1792716230 | EYA1 | c.929_930delinsAC (p.Asn310=) c.827_828delinsAC (p.Asn276=) c.914_915delinsAC (p.Asn305=) c.*208_*209delinsAC (n.*208_*209delinsAC) c.165_166delinsAC n.1392_1393delinsAC c.*696_*697delinsAC (n.*696_*697delinsAC) c.1016_1017delinsAC (p.Asn339=) c.1001_1002delinsAC (p.Asn334=) c.998_999delinsAC (p.Asn333=) c.911_912delinsAC (p.Asn304=) c.830_831delinsAC (p.Asn277=) c.926_927delinsAC (p.Asn309=) c.-155_-154delinsAC (n.-155_-154delinsAC) n.1424_1425delinsAC c.563_564delinsAC (p.Asn188=) c.866_867delinsAC (p.Asn289=) c.578_579delinsAC (p.Asn193=) c.1013_1014delinsAC (p.Asn338=) | |
| 8 | g.71271795T>A | CA371468860 | EYA1 | c.929A>T (p.Asn310Ile) c.827A>T (p.Asn276Ile) c.914A>T (p.Asn305Ile) c.*208A>T (n.*208A>T) c.165A>T n.1392A>T c.*696A>T (n.*696A>T) c.1016A>T (p.Asn339Ile) c.1001A>T (p.Asn334Ile) c.998A>T (p.Asn333Ile) c.911A>T (p.Asn304Ile) c.830A>T (p.Asn277Ile) c.926A>T (p.Asn309Ile) c.-155A>T (n.-155A>T) n.1424A>T c.563A>T (p.Asn188Ile) c.866A>T (p.Asn289Ile) c.578A>T (p.Asn193Ile) c.1013A>T (p.Asn338Ile) | |
| 8 | g.71271795T>C | CA371468862 | EYA1 | c.929A>G (p.Asn310Ser) c.827A>G (p.Asn276Ser) c.914A>G (p.Asn305Ser) c.*208A>G (n.*208A>G) c.165A>G n.1392A>G c.*696A>G (n.*696A>G) c.1016A>G (p.Asn339Ser) c.1001A>G (p.Asn334Ser) c.998A>G (p.Asn333Ser) c.911A>G (p.Asn304Ser) c.830A>G (p.Asn277Ser) c.926A>G (p.Asn309Ser) c.-155A>G (n.-155A>G) n.1424A>G c.563A>G (p.Asn188Ser) c.866A>G (p.Asn289Ser) c.578A>G (p.Asn193Ser) c.1013A>G (p.Asn338Ser) | |
| 8 | g.71271795T>G | CA371468863 | EYA1 | c.929A>C (p.Asn310Thr) c.827A>C (p.Asn276Thr) c.914A>C (p.Asn305Thr) c.*208A>C (n.*208A>C) c.165A>C n.1392A>C c.*696A>C (n.*696A>C) c.1016A>C (p.Asn339Thr) c.1001A>C (p.Asn334Thr) c.998A>C (p.Asn333Thr) c.911A>C (p.Asn304Thr) c.830A>C (p.Asn277Thr) c.926A>C (p.Asn309Thr) c.-155A>C (n.-155A>C) n.1424A>C c.563A>C (p.Asn188Thr) c.866A>C (p.Asn289Thr) c.578A>C (p.Asn193Thr) c.1013A>C (p.Asn338Thr) | |
| 8 | g.71271797del | CA1139660602 | EYA1 | c.929del (p.Asn310ThrfsTer?) c.827del (p.Asn276ThrfsTer?) c.914del (p.Asn305ThrfsTer?) c.*208del (n.*208del) c.165del n.1392del c.*696del (n.*696del) c.1016del (p.Asn339ThrfsTer?) c.1001del (p.Asn334ThrfsTer?) c.998del (p.Asn333ThrfsTer?) c.911del (p.Asn304ThrfsTer?) c.830del (p.Asn277ThrfsTer?) c.926del (p.Asn309ThrfsTer?) c.-155del (n.-155del) n.1424del c.563del (p.Asn188ThrfsTer?) c.866del (p.Asn289ThrfsTer?) c.578del (p.Asn193ThrfsTer?) c.1013del (p.Asn338ThrfsTer?) | ClinVar dbSNP |
| 8 | g.71271796T>A | CA371468864 | EYA1 | c.928A>T (p.Asn310Tyr) c.826A>T (p.Asn276Tyr) c.913A>T (p.Asn305Tyr) c.*207A>T (n.*207A>T) c.164A>T n.1391A>T c.*695A>T (n.*695A>T) c.1015A>T (p.Asn339Tyr) c.1000A>T (p.Asn334Tyr) c.997A>T (p.Asn333Tyr) c.910A>T (p.Asn304Tyr) c.829A>T (p.Asn277Tyr) c.925A>T (p.Asn309Tyr) c.-156A>T (n.-156A>T) n.1423A>T c.562A>T (p.Asn188Tyr) c.865A>T (p.Asn289Tyr) c.577A>T (p.Asn193Tyr) c.1012A>T (p.Asn338Tyr) | gnomAD v4 |
| 8 | g.71271796T>C | CA371468866 | EYA1 | c.928A>G (p.Asn310Asp) c.826A>G (p.Asn276Asp) c.913A>G (p.Asn305Asp) c.*207A>G (n.*207A>G) c.164A>G n.1391A>G c.*695A>G (n.*695A>G) c.1015A>G (p.Asn339Asp) c.1000A>G (p.Asn334Asp) c.997A>G (p.Asn333Asp) c.910A>G (p.Asn304Asp) c.829A>G (p.Asn277Asp) c.925A>G (p.Asn309Asp) c.-156A>G (n.-156A>G) n.1423A>G c.562A>G (p.Asn188Asp) c.865A>G (p.Asn289Asp) c.577A>G (p.Asn193Asp) c.1012A>G (p.Asn338Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.71271796T>G | CA371468868 | EYA1 | c.928A>C (p.Asn310His) c.826A>C (p.Asn276His) c.913A>C (p.Asn305His) c.*207A>C (n.*207A>C) c.164A>C n.1391A>C c.*695A>C (n.*695A>C) c.1015A>C (p.Asn339His) c.1000A>C (p.Asn334His) c.997A>C (p.Asn333His) c.910A>C (p.Asn304His) c.829A>C (p.Asn277His) c.925A>C (p.Asn309His) c.-156A>C (n.-156A>C) n.1423A>C c.562A>C (p.Asn188His) c.865A>C (p.Asn289His) c.577A>C (p.Asn193His) c.1012A>C (p.Asn338His) | |
| 8 | g.71271796T= | CA1792716231 | EYA1 | c.928A= (p.Asn310=) c.826A= (p.Asn276=) c.913A= (p.Asn305=) c.*207A= (n.*207A=) c.164A= n.1391A= c.*695A= (n.*695A=) c.1015A= (p.Asn339=) c.1000A= (p.Asn334=) c.997A= (p.Asn333=) c.910A= (p.Asn304=) c.829A= (p.Asn277=) c.925A= (p.Asn309=) c.-156A= (n.-156A=) n.1423A= c.562A= (p.Asn188=) c.865A= (p.Asn289=) c.577A= (p.Asn193=) c.1012A= (p.Asn338=) | |
| 8 | g.71271797T>A | CA371468870 | EYA1 | c.927A>T (p.Arg309Ser) c.825A>T (p.Arg275Ser) c.912A>T (p.Arg304Ser) c.*206A>T (n.*206A>T) c.163A>T n.1390A>T c.*694A>T (n.*694A>T) c.1014A>T (p.Arg338Ser) c.999A>T (p.Arg333Ser) c.996A>T (p.Arg332Ser) c.909A>T (p.Arg303Ser) c.828A>T (p.Arg276Ser) c.924A>T (p.Arg308Ser) c.-157A>T (n.-157A>T) n.1422A>T c.561A>T (p.Arg187Ser) c.864A>T (p.Arg288Ser) c.576A>T (p.Arg192Ser) c.1011A>T (p.Arg337Ser) | |
| 8 | g.71271797T>C | CA461327419 | EYA1 | c.927A>G (p.Arg309=) c.825A>G (p.Arg275=) c.912A>G (p.Arg304=) c.*206A>G (n.*206A>G) c.163A>G n.1390A>G c.*694A>G (n.*694A>G) c.1014A>G (p.Arg338=) c.999A>G (p.Arg333=) c.996A>G (p.Arg332=) c.909A>G (p.Arg303=) c.828A>G (p.Arg276=) c.924A>G (p.Arg308=) c.-157A>G (n.-157A>G) n.1422A>G c.561A>G (p.Arg187=) c.864A>G (p.Arg288=) c.576A>G (p.Arg192=) c.1011A>G (p.Arg337=) | |
| 8 | g.71271797T>G | CA371468871 | EYA1 | c.927A>C (p.Arg309Ser) c.825A>C (p.Arg275Ser) c.912A>C (p.Arg304Ser) c.*206A>C (n.*206A>C) c.163A>C n.1390A>C c.*694A>C (n.*694A>C) c.1014A>C (p.Arg338Ser) c.999A>C (p.Arg333Ser) c.996A>C (p.Arg332Ser) c.909A>C (p.Arg303Ser) c.828A>C (p.Arg276Ser) c.924A>C (p.Arg308Ser) c.-157A>C (n.-157A>C) n.1422A>C c.561A>C (p.Arg187Ser) c.864A>C (p.Arg288Ser) c.576A>C (p.Arg192Ser) c.1011A>C (p.Arg337Ser) | |
| 8 | g.71271798C>A | CA371468874 | EYA1 | c.926G>T (p.Arg309Ile) c.824G>T (p.Arg275Ile) c.911G>T (p.Arg304Ile) c.*205G>T (n.*205G>T) c.162G>T n.1389G>T c.*693G>T (n.*693G>T) c.1013G>T (p.Arg338Ile) c.998G>T (p.Arg333Ile) c.995G>T (p.Arg332Ile) c.908G>T (p.Arg303Ile) c.827G>T (p.Arg276Ile) c.923G>T (p.Arg308Ile) c.-158G>T (n.-158G>T) n.1421G>T c.560G>T (p.Arg187Ile) c.863G>T (p.Arg288Ile) c.575G>T (p.Arg192Ile) c.1010G>T (p.Arg337Ile) | |
| 8 | g.71271798C>G | CA371468875 | EYA1 | c.926G>C (p.Arg309Thr) c.824G>C (p.Arg275Thr) c.911G>C (p.Arg304Thr) c.*205G>C (n.*205G>C) c.162G>C n.1389G>C c.*693G>C (n.*693G>C) c.1013G>C (p.Arg338Thr) c.998G>C (p.Arg333Thr) c.995G>C (p.Arg332Thr) c.908G>C (p.Arg303Thr) c.827G>C (p.Arg276Thr) c.923G>C (p.Arg308Thr) c.-158G>C (n.-158G>C) n.1421G>C c.560G>C (p.Arg187Thr) c.863G>C (p.Arg288Thr) c.575G>C (p.Arg192Thr) c.1010G>C (p.Arg337Thr) | |
| 8 | g.71271798C>T | CA371468877 | EYA1 | c.926G>A (p.Arg309Lys) c.824G>A (p.Arg275Lys) c.911G>A (p.Arg304Lys) c.*205G>A (n.*205G>A) c.162G>A n.1389G>A c.*693G>A (n.*693G>A) c.1013G>A (p.Arg338Lys) c.998G>A (p.Arg333Lys) c.995G>A (p.Arg332Lys) c.908G>A (p.Arg303Lys) c.827G>A (p.Arg276Lys) c.923G>A (p.Arg308Lys) c.-158G>A (n.-158G>A) n.1421G>A c.560G>A (p.Arg187Lys) c.863G>A (p.Arg288Lys) c.575G>A (p.Arg192Lys) c.1010G>A (p.Arg337Lys) | |
| 8 | g.71271799T>A | CA371468879 | EYA1 | c.925A>T (p.Arg309Ter) c.823A>T (p.Arg275Ter) c.910A>T (p.Arg304Ter) c.*204A>T (n.*204A>T) c.161A>T n.1388A>T c.*692A>T (n.*692A>T) c.1012A>T (p.Arg338Ter) c.997A>T (p.Arg333Ter) c.994A>T (p.Arg332Ter) c.907A>T (p.Arg303Ter) c.826A>T (p.Arg276Ter) c.922A>T (p.Arg308Ter) c.-159A>T (n.-159A>T) n.1420A>T c.559A>T (p.Arg187Ter) c.862A>T (p.Arg288Ter) c.574A>T (p.Arg192Ter) c.1009A>T (p.Arg337Ter) | |
| 8 | g.71271799T>C | CA371468881 | EYA1 | c.925A>G (p.Arg309Gly) c.823A>G (p.Arg275Gly) c.910A>G (p.Arg304Gly) c.*204A>G (n.*204A>G) c.161A>G n.1388A>G c.*692A>G (n.*692A>G) c.1012A>G (p.Arg338Gly) c.997A>G (p.Arg333Gly) c.994A>G (p.Arg332Gly) c.907A>G (p.Arg303Gly) c.826A>G (p.Arg276Gly) c.922A>G (p.Arg308Gly) c.-159A>G (n.-159A>G) n.1420A>G c.559A>G (p.Arg187Gly) c.862A>G (p.Arg288Gly) c.574A>G (p.Arg192Gly) c.1009A>G (p.Arg337Gly) | gnomAD v4 |
| 8 | g.71271799T>G | CA461327420 | EYA1 | c.925A>C (p.Arg309=) c.823A>C (p.Arg275=) c.910A>C (p.Arg304=) c.*204A>C (n.*204A>C) c.161A>C n.1388A>C c.*692A>C (n.*692A>C) c.1012A>C (p.Arg338=) c.997A>C (p.Arg333=) c.994A>C (p.Arg332=) c.907A>C (p.Arg303=) c.826A>C (p.Arg276=) c.922A>C (p.Arg308=) c.-159A>C (n.-159A>C) n.1420A>C c.559A>C (p.Arg187=) c.862A>C (p.Arg288=) c.574A>C (p.Arg192=) c.1009A>C (p.Arg337=) | |
| 8 | g.71271800T>A | CA461327421 | EYA1 | c.924A>T (p.Arg308=) c.822A>T (p.Arg274=) c.909A>T (p.Arg303=) c.*203A>T (n.*203A>T) c.160A>T n.1387A>T c.*691A>T (n.*691A>T) c.1011A>T (p.Arg337=) c.996A>T (p.Arg332=) c.993A>T (p.Arg331=) c.906A>T (p.Arg302=) c.825A>T (p.Arg275=) c.921A>T (p.Arg307=) c.-160A>T (n.-160A>T) n.1419A>T c.558A>T (p.Arg186=) c.861A>T (p.Arg287=) c.573A>T (p.Arg191=) c.1008A>T (p.Arg336=) | |
| 8 | g.71271800T>C | CA179250633 | EYA1 | c.924A>G (p.Arg308=) c.822A>G (p.Arg274=) c.909A>G (p.Arg303=) c.*203A>G (n.*203A>G) c.160A>G n.1387A>G c.*691A>G (n.*691A>G) c.1011A>G (p.Arg337=) c.996A>G (p.Arg332=) c.993A>G (p.Arg331=) c.906A>G (p.Arg302=) c.825A>G (p.Arg275=) c.921A>G (p.Arg307=) c.-160A>G (n.-160A>G) n.1419A>G c.558A>G (p.Arg186=) c.861A>G (p.Arg287=) c.573A>G (p.Arg191=) c.1008A>G (p.Arg336=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.71271800T>G | CA461327422 | EYA1 | c.924A>C (p.Arg308=) c.822A>C (p.Arg274=) c.909A>C (p.Arg303=) c.*203A>C (n.*203A>C) c.160A>C n.1387A>C c.*691A>C (n.*691A>C) c.1011A>C (p.Arg337=) c.996A>C (p.Arg332=) c.993A>C (p.Arg331=) c.906A>C (p.Arg302=) c.825A>C (p.Arg275=) c.921A>C (p.Arg307=) c.-160A>C (n.-160A>C) n.1419A>C c.558A>C (p.Arg186=) c.861A>C (p.Arg287=) c.573A>C (p.Arg191=) c.1008A>C (p.Arg336=) | |
| 8 | g.71271800T= | CA1792716232 | EYA1 | c.924A= (p.Arg308=) c.822A= (p.Arg274=) c.909A= (p.Arg303=) c.*203A= (n.*203A=) c.160A= n.1387A= c.*691A= (n.*691A=) c.1011A= (p.Arg337=) c.996A= (p.Arg332=) c.993A= (p.Arg331=) c.906A= (p.Arg302=) c.825A= (p.Arg275=) c.921A= (p.Arg307=) c.-160A= (n.-160A=) n.1419A= c.558A= (p.Arg186=) c.861A= (p.Arg287=) c.573A= (p.Arg191=) c.1008A= (p.Arg336=) | |
| 8 | g.71271801C>A | CA371468884 | EYA1 | c.923G>T (p.Arg308Leu) c.821G>T (p.Arg274Leu) c.908G>T (p.Arg303Leu) c.*202G>T (n.*202G>T) c.159G>T n.1386G>T c.*690G>T (n.*690G>T) c.1010G>T (p.Arg337Leu) c.995G>T (p.Arg332Leu) c.992G>T (p.Arg331Leu) c.905G>T (p.Arg302Leu) c.824G>T (p.Arg275Leu) c.920G>T (p.Arg307Leu) c.-161G>T (n.-161G>T) n.1418G>T c.557G>T (p.Arg186Leu) c.860G>T (p.Arg287Leu) c.572G>T (p.Arg191Leu) c.1007G>T (p.Arg336Leu) | |
| 8 | g.71271801C= | CA1792716233 | EYA1 | c.923G= (p.Arg308=) c.821G= (p.Arg274=) c.908G= (p.Arg303=) c.*202G= (n.*202G=) c.159G= n.1386G= c.*690G= (n.*690G=) c.1010G= (p.Arg337=) c.995G= (p.Arg332=) c.992G= (p.Arg331=) c.905G= (p.Arg302=) c.824G= (p.Arg275=) c.920G= (p.Arg307=) c.-161G= (n.-161G=) n.1418G= c.557G= (p.Arg186=) c.860G= (p.Arg287=) c.572G= (p.Arg191=) c.1007G= (p.Arg336=) | |
| 8 | g.71271801C>G | CA371468885 | EYA1 | c.923G>C (p.Arg308Pro) c.821G>C (p.Arg274Pro) c.908G>C (p.Arg303Pro) c.*202G>C (n.*202G>C) c.159G>C n.1386G>C c.*690G>C (n.*690G>C) c.1010G>C (p.Arg337Pro) c.995G>C (p.Arg332Pro) c.992G>C (p.Arg331Pro) c.905G>C (p.Arg302Pro) c.824G>C (p.Arg275Pro) c.920G>C (p.Arg307Pro) c.-161G>C (n.-161G>C) n.1418G>C c.557G>C (p.Arg186Pro) c.860G>C (p.Arg287Pro) c.572G>C (p.Arg191Pro) c.1007G>C (p.Arg336Pro) | |
| 8 | g.71271801C>T | CA4779620 | EYA1 | c.923G>A (p.Arg308Gln) c.821G>A (p.Arg274Gln) c.908G>A (p.Arg303Gln) c.*202G>A (n.*202G>A) c.159G>A n.1386G>A c.*690G>A (n.*690G>A) c.1010G>A (p.Arg337Gln) c.995G>A (p.Arg332Gln) c.992G>A (p.Arg331Gln) c.905G>A (p.Arg302Gln) c.824G>A (p.Arg275Gln) c.920G>A (p.Arg307Gln) c.-161G>A (n.-161G>A) n.1418G>A c.557G>A (p.Arg186Gln) c.860G>A (p.Arg287Gln) c.572G>A (p.Arg191Gln) c.1007G>A (p.Arg336Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.71271802G>A | CA254266 | EYA1 | c.922C>T (p.Arg308Ter) c.820C>T (p.Arg274Ter) c.907C>T (p.Arg303Ter) c.*201C>T (n.*201C>T) c.158C>T n.1385C>T c.*689C>T (n.*689C>T) c.1009C>T (p.Arg337Ter) c.994C>T (p.Arg332Ter) c.991C>T (p.Arg331Ter) c.904C>T (p.Arg302Ter) c.823C>T (p.Arg275Ter) c.919C>T (p.Arg307Ter) c.-162C>T (n.-162C>T) n.1417C>T c.556C>T (p.Arg186Ter) c.859C>T (p.Arg287Ter) c.571C>T (p.Arg191Ter) c.1006C>T (p.Arg336Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 8 | g.71271802G>C | CA4779621 | EYA1 | c.922C>G (p.Arg308Gly) c.820C>G (p.Arg274Gly) c.907C>G (p.Arg303Gly) c.*201C>G (n.*201C>G) c.158C>G n.1385C>G c.*689C>G (n.*689C>G) c.1009C>G (p.Arg337Gly) c.994C>G (p.Arg332Gly) c.991C>G (p.Arg331Gly) c.904C>G (p.Arg302Gly) c.823C>G (p.Arg275Gly) c.919C>G (p.Arg307Gly) c.-162C>G (n.-162C>G) n.1417C>G c.556C>G (p.Arg186Gly) c.859C>G (p.Arg287Gly) c.571C>G (p.Arg191Gly) c.1006C>G (p.Arg336Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.71271802G= | CA1792716234 | EYA1 | c.922C= (p.Arg308=) c.820C= (p.Arg274=) c.907C= (p.Arg303=) c.*201C= (n.*201C=) c.158C= n.1385C= c.*689C= (n.*689C=) c.1009C= (p.Arg337=) c.994C= (p.Arg332=) c.991C= (p.Arg331=) c.904C= (p.Arg302=) c.823C= (p.Arg275=) c.919C= (p.Arg307=) c.-162C= (n.-162C=) n.1417C= c.556C= (p.Arg186=) c.859C= (p.Arg287=) c.571C= (p.Arg191=) c.1006C= (p.Arg336=) | |
| 8 | g.71271802G>T | CA461327423 | EYA1 | c.922C>A (p.Arg308=) c.820C>A (p.Arg274=) c.907C>A (p.Arg303=) c.*201C>A (n.*201C>A) c.158C>A n.1385C>A c.*689C>A (n.*689C>A) c.1009C>A (p.Arg337=) c.994C>A (p.Arg332=) c.991C>A (p.Arg331=) c.904C>A (p.Arg302=) c.823C>A (p.Arg275=) c.919C>A (p.Arg307=) c.-162C>A (n.-162C>A) n.1417C>A c.556C>A (p.Arg186=) c.859C>A (p.Arg287=) c.571C>A (p.Arg191=) c.1006C>A (p.Arg336=) | |
| 8 | g.71271803dup | CA2697549976 | EYA1 | c.922dup (p.Arg308ProfsTer5) c.820dup (p.Arg274ProfsTer5) c.907dup (p.Arg303ProfsTer5) c.*201dup (n.*201dup) c.158dup n.1385dup c.*689dup (n.*689dup) c.1009dup (p.Arg337ProfsTer5) c.994dup (p.Arg332ProfsTer5) c.991dup (p.Arg331ProfsTer5) c.904dup (p.Arg302ProfsTer5) c.823dup (p.Arg275ProfsTer5) c.919dup (p.Arg307ProfsTer5) c.-162dup (n.-162dup) n.1417dup c.556dup (p.Arg186ProfsTer5) c.859dup (p.Arg287ProfsTer5) c.571dup (p.Arg191ProfsTer5) c.1006dup (p.Arg336ProfsTer5) | ClinVar |
| 8 | g.71271803G>A | CA4779622 | EYA1 | c.921C>T (p.Gly307=) c.819C>T (p.Gly273=) c.906C>T (p.Gly302=) c.*200C>T (n.*200C>T) c.157C>T n.1384C>T c.*688C>T (n.*688C>T) c.1008C>T (p.Gly336=) c.993C>T (p.Gly331=) c.990C>T (p.Gly330=) c.903C>T (p.Gly301=) c.822C>T (p.Gly274=) c.918C>T (p.Gly306=) c.-163C>T (n.-163C>T) n.1416C>T c.555C>T (p.Gly185=) c.858C>T (p.Gly286=) c.570C>T (p.Gly190=) c.1005C>T (p.Gly335=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.71271803G>C | CA461327424 | EYA1 | c.921C>G (p.Gly307=) c.819C>G (p.Gly273=) c.906C>G (p.Gly302=) c.*200C>G (n.*200C>G) c.157C>G n.1384C>G c.*688C>G (n.*688C>G) c.1008C>G (p.Gly336=) c.993C>G (p.Gly331=) c.990C>G (p.Gly330=) c.903C>G (p.Gly301=) c.822C>G (p.Gly274=) c.918C>G (p.Gly306=) c.-163C>G (n.-163C>G) n.1416C>G c.555C>G (p.Gly185=) c.858C>G (p.Gly286=) c.570C>G (p.Gly190=) c.1005C>G (p.Gly335=) | |
| 8 | g.71271803G= | CA1792716235 | EYA1 | c.921C= (p.Gly307=) c.819C= (p.Gly273=) c.906C= (p.Gly302=) c.*200C= (n.*200C=) c.157C= n.1384C= c.*688C= (n.*688C=) c.1008C= (p.Gly336=) c.993C= (p.Gly331=) c.990C= (p.Gly330=) c.903C= (p.Gly301=) c.822C= (p.Gly274=) c.918C= (p.Gly306=) c.-163C= (n.-163C=) n.1416C= c.555C= (p.Gly185=) c.858C= (p.Gly286=) c.570C= (p.Gly190=) c.1005C= (p.Gly335=) | |
| 8 | g.71271803G>T | CA461327425 | EYA1 | c.921C>A (p.Gly307=) c.819C>A (p.Gly273=) c.906C>A (p.Gly302=) c.*200C>A (n.*200C>A) c.157C>A n.1384C>A c.*688C>A (n.*688C>A) c.1008C>A (p.Gly336=) c.993C>A (p.Gly331=) c.990C>A (p.Gly330=) c.903C>A (p.Gly301=) c.822C>A (p.Gly274=) c.918C>A (p.Gly306=) c.-163C>A (n.-163C>A) n.1416C>A c.555C>A (p.Gly185=) c.858C>A (p.Gly286=) c.570C>A (p.Gly190=) c.1005C>A (p.Gly335=) | |
| 8 | g.71271804C>A | CA371468890 | EYA1 | c.920G>T (p.Gly307Val) c.818G>T (p.Gly273Val) c.905G>T (p.Gly302Val) c.*199G>T (n.*199G>T) c.156G>T n.1383G>T c.*687G>T (n.*687G>T) c.1007G>T (p.Gly336Val) c.992G>T (p.Gly331Val) c.989G>T (p.Gly330Val) c.902G>T (p.Gly301Val) c.821G>T (p.Gly274Val) c.917G>T (p.Gly306Val) c.-164G>T (n.-164G>T) n.1415G>T c.554G>T (p.Gly185Val) c.857G>T (p.Gly286Val) c.569G>T (p.Gly190Val) c.1004G>T (p.Gly335Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.71271804C= | CA1792716236 | EYA1 | c.920G= (p.Gly307=) c.818G= (p.Gly273=) c.905G= (p.Gly302=) c.*199G= (n.*199G=) c.156G= n.1383G= c.*687G= (n.*687G=) c.1007G= (p.Gly336=) c.992G= (p.Gly331=) c.989G= (p.Gly330=) c.902G= (p.Gly301=) c.821G= (p.Gly274=) c.917G= (p.Gly306=) c.-164G= (n.-164G=) n.1415G= c.554G= (p.Gly185=) c.857G= (p.Gly286=) c.569G= (p.Gly190=) c.1004G= (p.Gly335=) | |
| 8 | g.71271804C>G | CA371468892 | EYA1 | c.920G>C (p.Gly307Ala) c.818G>C (p.Gly273Ala) c.905G>C (p.Gly302Ala) c.*199G>C (n.*199G>C) c.156G>C n.1383G>C c.*687G>C (n.*687G>C) c.1007G>C (p.Gly336Ala) c.992G>C (p.Gly331Ala) c.989G>C (p.Gly330Ala) c.902G>C (p.Gly301Ala) c.821G>C (p.Gly274Ala) c.917G>C (p.Gly306Ala) c.-164G>C (n.-164G>C) n.1415G>C c.554G>C (p.Gly185Ala) c.857G>C (p.Gly286Ala) c.569G>C (p.Gly190Ala) c.1004G>C (p.Gly335Ala) | |
| 8 | g.71271804C>T | CA371468894 | EYA1 | c.920G>A (p.Gly307Asp) c.818G>A (p.Gly273Asp) c.905G>A (p.Gly302Asp) c.*199G>A (n.*199G>A) c.156G>A n.1383G>A c.*687G>A (n.*687G>A) c.1007G>A (p.Gly336Asp) c.992G>A (p.Gly331Asp) c.989G>A (p.Gly330Asp) c.902G>A (p.Gly301Asp) c.821G>A (p.Gly274Asp) c.917G>A (p.Gly306Asp) c.-164G>A (n.-164G>A) n.1415G>A c.554G>A (p.Gly185Asp) c.857G>A (p.Gly286Asp) c.569G>A (p.Gly190Asp) c.1004G>A (p.Gly335Asp) | dbSNP gnomAD v4 |
| 8 | g.71271807del | CA2695209829 | EYA1 | c.920del (p.Gly307AlafsTer?) c.818del (p.Gly273AlafsTer?) c.905del (p.Gly302AlafsTer?) c.*199del (n.*199del) c.156del n.1383del c.*687del (n.*687del) c.1007del (p.Gly336AlafsTer?) c.992del (p.Gly331AlafsTer?) c.989del (p.Gly330AlafsTer?) c.902del (p.Gly301AlafsTer?) c.821del (p.Gly274AlafsTer?) c.917del (p.Gly306AlafsTer?) c.-164del (n.-164del) n.1415del c.554del (p.Gly185AlafsTer?) c.857del (p.Gly286AlafsTer?) c.569del (p.Gly190AlafsTer?) c.1004del (p.Gly335AlafsTer?) | |
| 8 | g.71271805C>A | CA371468896 | EYA1 | c.919G>T (p.Gly307Cys) c.817G>T (p.Gly273Cys) c.904G>T (p.Gly302Cys) c.*198G>T (n.*198G>T) c.155G>T n.1382G>T c.*686G>T (n.*686G>T) c.1006G>T (p.Gly336Cys) c.991G>T (p.Gly331Cys) c.988G>T (p.Gly330Cys) c.901G>T (p.Gly301Cys) c.820G>T (p.Gly274Cys) c.916G>T (p.Gly306Cys) c.-165G>T (n.-165G>T) n.1414G>T c.553G>T (p.Gly185Cys) c.856G>T (p.Gly286Cys) c.568G>T (p.Gly190Cys) c.1003G>T (p.Gly335Cys) | |
| 8 | g.71271805C>G | CA371468897 | EYA1 | c.919G>C (p.Gly307Arg) c.817G>C (p.Gly273Arg) c.904G>C (p.Gly302Arg) c.*198G>C (n.*198G>C) c.155G>C n.1382G>C c.*686G>C (n.*686G>C) c.1006G>C (p.Gly336Arg) c.991G>C (p.Gly331Arg) c.988G>C (p.Gly330Arg) c.901G>C (p.Gly301Arg) c.820G>C (p.Gly274Arg) c.916G>C (p.Gly306Arg) c.-165G>C (n.-165G>C) n.1414G>C c.553G>C (p.Gly185Arg) c.856G>C (p.Gly286Arg) c.568G>C (p.Gly190Arg) c.1003G>C (p.Gly335Arg) | |
| 8 | g.71271805C>T | CA371468899 | EYA1 | c.919G>A (p.Gly307Ser) c.817G>A (p.Gly273Ser) c.904G>A (p.Gly302Ser) c.*198G>A (n.*198G>A) c.155G>A n.1382G>A c.*686G>A (n.*686G>A) c.1006G>A (p.Gly336Ser) c.991G>A (p.Gly331Ser) c.988G>A (p.Gly330Ser) c.901G>A (p.Gly301Ser) c.820G>A (p.Gly274Ser) c.916G>A (p.Gly306Ser) c.-165G>A (n.-165G>A) n.1414G>A c.553G>A (p.Gly185Ser) c.856G>A (p.Gly286Ser) c.568G>A (p.Gly190Ser) c.1003G>A (p.Gly335Ser) | |
| 8 | g.71271806C>A | CA461327426 | EYA1 | c.918G>T (p.Arg306=) c.816G>T (p.Arg272=) c.903G>T (p.Arg301=) c.*197G>T (n.*197G>T) c.154G>T n.1381G>T c.*685G>T (n.*685G>T) c.1005G>T (p.Arg335=) c.990G>T (p.Arg330=) c.987G>T (p.Arg329=) c.900G>T (p.Arg300=) c.819G>T (p.Arg273=) c.915G>T (p.Arg305=) c.-166G>T (n.-166G>T) n.1413G>T c.552G>T (p.Arg184=) c.855G>T (p.Arg285=) c.567G>T (p.Arg189=) c.1002G>T (p.Arg334=) | COSMIC COSMIC |
| 8 | g.71271806C= | CA1792716237 | EYA1 | c.918G= (p.Arg306=) c.816G= (p.Arg272=) c.903G= (p.Arg301=) c.*197G= (n.*197G=) c.154G= n.1381G= c.*685G= (n.*685G=) c.1005G= (p.Arg335=) c.990G= (p.Arg330=) c.987G= (p.Arg329=) c.900G= (p.Arg300=) c.819G= (p.Arg273=) c.915G= (p.Arg305=) c.-166G= (n.-166G=) n.1413G= c.552G= (p.Arg184=) c.855G= (p.Arg285=) c.567G= (p.Arg189=) c.1002G= (p.Arg334=) | |
| 8 | g.71271806C>G | CA461327427 | EYA1 | c.918G>C (p.Arg306=) c.816G>C (p.Arg272=) c.903G>C (p.Arg301=) c.*197G>C (n.*197G>C) c.154G>C n.1381G>C c.*685G>C (n.*685G>C) c.1005G>C (p.Arg335=) c.990G>C (p.Arg330=) c.987G>C (p.Arg329=) c.900G>C (p.Arg300=) c.819G>C (p.Arg273=) c.915G>C (p.Arg305=) c.-166G>C (n.-166G>C) n.1413G>C c.552G>C (p.Arg184=) c.855G>C (p.Arg285=) c.567G>C (p.Arg189=) c.1002G>C (p.Arg334=) | gnomAD v4 |
| 8 | g.71271806C>T | CA4779623 | EYA1 | c.918G>A (p.Arg306=) c.816G>A (p.Arg272=) c.903G>A (p.Arg301=) c.*197G>A (n.*197G>A) c.154G>A n.1381G>A c.*685G>A (n.*685G>A) c.1005G>A (p.Arg335=) c.990G>A (p.Arg330=) c.987G>A (p.Arg329=) c.900G>A (p.Arg300=) c.819G>A (p.Arg273=) c.915G>A (p.Arg305=) c.-166G>A (n.-166G>A) n.1413G>A c.552G>A (p.Arg184=) c.855G>A (p.Arg285=) c.567G>A (p.Arg189=) c.1002G>A (p.Arg334=) | dbSNP ExAC gnomAD v2 |
| 8 | g.71271807C>A | CA371468903 | EYA1 | c.917G>T (p.Arg306Leu) c.815G>T (p.Arg272Leu) c.902G>T (p.Arg301Leu) c.*196G>T (n.*196G>T) c.153G>T n.1380G>T c.*684G>T (n.*684G>T) c.1004G>T (p.Arg335Leu) c.989G>T (p.Arg330Leu) c.986G>T (p.Arg329Leu) c.899G>T (p.Arg300Leu) c.818G>T (p.Arg273Leu) c.914G>T (p.Arg305Leu) c.-167G>T (n.-167G>T) n.1412G>T c.551G>T (p.Arg184Leu) c.854G>T (p.Arg285Leu) c.566G>T (p.Arg189Leu) c.1001G>T (p.Arg334Leu) | |
| 8 | g.71271807C= | CA1792716238 | EYA1 | c.917G= (p.Arg306=) c.815G= (p.Arg272=) c.902G= (p.Arg301=) c.*196G= (n.*196G=) c.153G= n.1380G= c.*684G= (n.*684G=) c.1004G= (p.Arg335=) c.989G= (p.Arg330=) c.986G= (p.Arg329=) c.899G= (p.Arg300=) c.818G= (p.Arg273=) c.914G= (p.Arg305=) c.-167G= (n.-167G=) n.1412G= c.551G= (p.Arg184=) c.854G= (p.Arg285=) c.566G= (p.Arg189=) c.1001G= (p.Arg334=) | |
| 8 | g.71271807C>G | CA371468901 | EYA1 | c.917G>C (p.Arg306Pro) c.815G>C (p.Arg272Pro) c.902G>C (p.Arg301Pro) c.*196G>C (n.*196G>C) c.153G>C n.1380G>C c.*684G>C (n.*684G>C) c.1004G>C (p.Arg335Pro) c.989G>C (p.Arg330Pro) c.986G>C (p.Arg329Pro) c.899G>C (p.Arg300Pro) c.818G>C (p.Arg273Pro) c.914G>C (p.Arg305Pro) c.-167G>C (n.-167G>C) n.1412G>C c.551G>C (p.Arg184Pro) c.854G>C (p.Arg285Pro) c.566G>C (p.Arg189Pro) c.1001G>C (p.Arg334Pro) | |
| 8 | g.71271807C>T | CA4779624 | EYA1 | c.917G>A (p.Arg306Gln) c.815G>A (p.Arg272Gln) c.902G>A (p.Arg301Gln) c.*196G>A (n.*196G>A) c.153G>A n.1380G>A c.*684G>A (n.*684G>A) c.1004G>A (p.Arg335Gln) c.989G>A (p.Arg330Gln) c.986G>A (p.Arg329Gln) c.899G>A (p.Arg300Gln) c.818G>A (p.Arg273Gln) c.914G>A (p.Arg305Gln) c.-167G>A (n.-167G>A) n.1412G>A c.551G>A (p.Arg184Gln) c.854G>A (p.Arg285Gln) c.566G>A (p.Arg189Gln) c.1001G>A (p.Arg334Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.71271808G>A | CA4779625 | EYA1 | c.916C>T (p.Arg306Trp) c.814C>T (p.Arg272Trp) c.901C>T (p.Arg301Trp) c.*195C>T (n.*195C>T) c.152C>T n.1379C>T c.*683C>T (n.*683C>T) c.1003C>T (p.Arg335Trp) c.988C>T (p.Arg330Trp) c.985C>T (p.Arg329Trp) c.898C>T (p.Arg300Trp) c.817C>T (p.Arg273Trp) c.913C>T (p.Arg305Trp) c.-168C>T (n.-168C>T) n.1411C>T c.550C>T (p.Arg184Trp) c.853C>T (p.Arg285Trp) c.565C>T (p.Arg189Trp) c.1000C>T (p.Arg334Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.71271808G>C | CA371468906 | EYA1 | c.916C>G (p.Arg306Gly) c.814C>G (p.Arg272Gly) c.901C>G (p.Arg301Gly) c.*195C>G (n.*195C>G) c.152C>G n.1379C>G c.*683C>G (n.*683C>G) c.1003C>G (p.Arg335Gly) c.988C>G (p.Arg330Gly) c.985C>G (p.Arg329Gly) c.898C>G (p.Arg300Gly) c.817C>G (p.Arg273Gly) c.913C>G (p.Arg305Gly) c.-168C>G (n.-168C>G) n.1411C>G c.550C>G (p.Arg184Gly) c.853C>G (p.Arg285Gly) c.565C>G (p.Arg189Gly) c.1000C>G (p.Arg334Gly) | |
| 8 | g.71271808G= | CA1792716239 | EYA1 | c.916C= (p.Arg306=) c.814C= (p.Arg272=) c.901C= (p.Arg301=) c.*195C= (n.*195C=) c.152C= n.1379C= c.*683C= (n.*683C=) c.1003C= (p.Arg335=) c.988C= (p.Arg330=) c.985C= (p.Arg329=) c.898C= (p.Arg300=) c.817C= (p.Arg273=) c.913C= (p.Arg305=) c.-168C= (n.-168C=) n.1411C= c.550C= (p.Arg184=) c.853C= (p.Arg285=) c.565C= (p.Arg189=) c.1000C= (p.Arg334=) | |
| 8 | g.71271808G>T | CA461327428 | EYA1 | c.916C>A (p.Arg306=) c.814C>A (p.Arg272=) c.901C>A (p.Arg301=) c.*195C>A (n.*195C>A) c.152C>A n.1379C>A c.*683C>A (n.*683C>A) c.1003C>A (p.Arg335=) c.988C>A (p.Arg330=) c.985C>A (p.Arg329=) c.898C>A (p.Arg300=) c.817C>A (p.Arg273=) c.913C>A (p.Arg305=) c.-168C>A (n.-168C>A) n.1411C>A c.550C>A (p.Arg184=) c.853C>A (p.Arg285=) c.565C>A (p.Arg189=) c.1000C>A (p.Arg334=) | |
| 8 | g.71271809T>A | CA461327429 | EYA1 | c.915A>T (p.Gly305=) c.813A>T (p.Gly271=) c.900A>T (p.Gly300=) c.*194A>T (n.*194A>T) c.151A>T n.1378A>T c.*682A>T (n.*682A>T) c.1002A>T (p.Gly334=) c.987A>T (p.Gly329=) c.984A>T (p.Gly328=) c.897A>T (p.Gly299=) c.816A>T (p.Gly272=) c.912A>T (p.Gly304=) c.-169A>T (n.-169A>T) n.1410A>T c.549A>T (p.Gly183=) c.852A>T (p.Gly284=) c.564A>T (p.Gly188=) c.999A>T (p.Gly333=) | |
| 8 | g.71271809T>C | CA461327430 | EYA1 | c.915A>G (p.Gly305=) c.813A>G (p.Gly271=) c.900A>G (p.Gly300=) c.*194A>G (n.*194A>G) c.151A>G n.1378A>G c.*682A>G (n.*682A>G) c.1002A>G (p.Gly334=) c.987A>G (p.Gly329=) c.984A>G (p.Gly328=) c.897A>G (p.Gly299=) c.816A>G (p.Gly272=) c.912A>G (p.Gly304=) c.-169A>G (n.-169A>G) n.1410A>G c.549A>G (p.Gly183=) c.852A>G (p.Gly284=) c.564A>G (p.Gly188=) c.999A>G (p.Gly333=) | |
| 8 | g.71271809T>G | CA461327431 | EYA1 | c.915A>C (p.Gly305=) c.813A>C (p.Gly271=) c.900A>C (p.Gly300=) c.*194A>C (n.*194A>C) c.151A>C n.1378A>C c.*682A>C (n.*682A>C) c.1002A>C (p.Gly334=) c.987A>C (p.Gly329=) c.984A>C (p.Gly328=) c.897A>C (p.Gly299=) c.816A>C (p.Gly272=) c.912A>C (p.Gly304=) c.-169A>C (n.-169A>C) n.1410A>C c.549A>C (p.Gly183=) c.852A>C (p.Gly284=) c.564A>C (p.Gly188=) c.999A>C (p.Gly333=) | |
| 8 | g.71271810C>A | CA371468908 | EYA1 | c.914G>T (p.Gly305Val) c.812G>T (p.Gly271Val) c.899G>T (p.Gly300Val) c.*193G>T (n.*193G>T) c.150G>T n.1377G>T c.*681G>T (n.*681G>T) c.1001G>T (p.Gly334Val) c.986G>T (p.Gly329Val) c.983G>T (p.Gly328Val) c.896G>T (p.Gly299Val) c.815G>T (p.Gly272Val) c.911G>T (p.Gly304Val) c.-170G>T (n.-170G>T) n.1409G>T c.548G>T (p.Gly183Val) c.851G>T (p.Gly284Val) c.563G>T (p.Gly188Val) c.998G>T (p.Gly333Val) | |
| 8 | g.71271810C>G | CA371468910 | EYA1 | c.914G>C (p.Gly305Ala) c.812G>C (p.Gly271Ala) c.899G>C (p.Gly300Ala) c.*193G>C (n.*193G>C) c.150G>C n.1377G>C c.*681G>C (n.*681G>C) c.1001G>C (p.Gly334Ala) c.986G>C (p.Gly329Ala) c.983G>C (p.Gly328Ala) c.896G>C (p.Gly299Ala) c.815G>C (p.Gly272Ala) c.911G>C (p.Gly304Ala) c.-170G>C (n.-170G>C) n.1409G>C c.548G>C (p.Gly183Ala) c.851G>C (p.Gly284Ala) c.563G>C (p.Gly188Ala) c.998G>C (p.Gly333Ala) | |
| 8 | g.71271810C>T | CA371468911 | EYA1 | c.914G>A (p.Gly305Glu) c.812G>A (p.Gly271Glu) c.899G>A (p.Gly300Glu) c.*193G>A (n.*193G>A) c.150G>A n.1377G>A c.*681G>A (n.*681G>A) c.1001G>A (p.Gly334Glu) c.986G>A (p.Gly329Glu) c.983G>A (p.Gly328Glu) c.896G>A (p.Gly299Glu) c.815G>A (p.Gly272Glu) c.911G>A (p.Gly304Glu) c.-170G>A (n.-170G>A) n.1409G>A c.548G>A (p.Gly183Glu) c.851G>A (p.Gly284Glu) c.563G>A (p.Gly188Glu) c.998G>A (p.Gly333Glu) | gnomAD v4 |
| 8 | g.71271811C>A | CA371468914 | EYA1 | c.913G>T (p.Gly305Ter) c.811G>T (p.Gly271Ter) c.898G>T (p.Gly300Ter) c.*192G>T (n.*192G>T) c.149G>T n.1376G>T c.*680G>T (n.*680G>T) c.1000G>T (p.Gly334Ter) c.985G>T (p.Gly329Ter) c.982G>T (p.Gly328Ter) c.895G>T (p.Gly299Ter) c.814G>T (p.Gly272Ter) c.910G>T (p.Gly304Ter) c.-171G>T (n.-171G>T) n.1408G>T c.547G>T (p.Gly183Ter) c.850G>T (p.Gly284Ter) c.562G>T (p.Gly188Ter) c.997G>T (p.Gly333Ter) | |
| 8 | g.71271811C>G | CA371468917 | EYA1 | c.913G>C (p.Gly305Arg) c.811G>C (p.Gly271Arg) c.898G>C (p.Gly300Arg) c.*192G>C (n.*192G>C) c.149G>C n.1376G>C c.*680G>C (n.*680G>C) c.1000G>C (p.Gly334Arg) c.985G>C (p.Gly329Arg) c.982G>C (p.Gly328Arg) c.895G>C (p.Gly299Arg) c.814G>C (p.Gly272Arg) c.910G>C (p.Gly304Arg) c.-171G>C (n.-171G>C) n.1408G>C c.547G>C (p.Gly183Arg) c.850G>C (p.Gly284Arg) c.562G>C (p.Gly188Arg) c.997G>C (p.Gly333Arg) | |
| 8 | g.71271811C>T | CA371468915 | EYA1 | c.913G>A (p.Gly305Arg) c.811G>A (p.Gly271Arg) c.898G>A (p.Gly300Arg) c.*192G>A (n.*192G>A) c.149G>A n.1376G>A c.*680G>A (n.*680G>A) c.1000G>A (p.Gly334Arg) c.985G>A (p.Gly329Arg) c.982G>A (p.Gly328Arg) c.895G>A (p.Gly299Arg) c.814G>A (p.Gly272Arg) c.910G>A (p.Gly304Arg) c.-171G>A (n.-171G>A) n.1408G>A c.547G>A (p.Gly183Arg) c.850G>A (p.Gly284Arg) c.562G>A (p.Gly188Arg) c.997G>A (p.Gly333Arg) | gnomAD v4 |
| 8 | g.71271812A= | CA1792716240 | EYA1 | c.912T= (p.Arg304=) c.810T= (p.Arg270=) c.897T= (p.Arg299=) c.*191T= (n.*191T=) c.148T= n.1375T= c.*679T= (n.*679T=) c.999T= (p.Arg333=) c.984T= (p.Arg328=) c.981T= (p.Arg327=) c.894T= (p.Arg298=) c.813T= (p.Arg271=) c.909T= (p.Arg303=) c.-172T= (n.-172T=) n.1407T= c.546T= (p.Arg182=) c.849T= (p.Arg283=) c.561T= (p.Arg187=) c.996T= (p.Arg332=) | |
| 8 | g.71271812A>C | CA461327432 | EYA1 | c.912T>G (p.Arg304=) c.810T>G (p.Arg270=) c.897T>G (p.Arg299=) c.*191T>G (n.*191T>G) c.148T>G n.1375T>G c.*679T>G (n.*679T>G) c.999T>G (p.Arg333=) c.984T>G (p.Arg328=) c.981T>G (p.Arg327=) c.894T>G (p.Arg298=) c.813T>G (p.Arg271=) c.909T>G (p.Arg303=) c.-172T>G (n.-172T>G) n.1407T>G c.546T>G (p.Arg182=) c.849T>G (p.Arg283=) c.561T>G (p.Arg187=) c.996T>G (p.Arg332=) | |
| 8 | g.71271812A>G | CA461327433 | EYA1 | c.912T>C (p.Arg304=) c.810T>C (p.Arg270=) c.897T>C (p.Arg299=) c.*191T>C (n.*191T>C) c.148T>C n.1375T>C c.*679T>C (n.*679T>C) c.999T>C (p.Arg333=) c.984T>C (p.Arg328=) c.981T>C (p.Arg327=) c.894T>C (p.Arg298=) c.813T>C (p.Arg271=) c.909T>C (p.Arg303=) c.-172T>C (n.-172T>C) n.1407T>C c.546T>C (p.Arg182=) c.849T>C (p.Arg283=) c.561T>C (p.Arg187=) c.996T>C (p.Arg332=) | dbSNP |
| 8 | g.71271812A>T | CA4779626 | EYA1 | c.912T>A (p.Arg304=) c.810T>A (p.Arg270=) c.897T>A (p.Arg299=) c.*191T>A (n.*191T>A) c.148T>A n.1375T>A c.*679T>A (n.*679T>A) c.999T>A (p.Arg333=) c.984T>A (p.Arg328=) c.981T>A (p.Arg327=) c.894T>A (p.Arg298=) c.813T>A (p.Arg271=) c.909T>A (p.Arg303=) c.-172T>A (n.-172T>A) n.1407T>A c.546T>A (p.Arg182=) c.849T>A (p.Arg283=) c.561T>A (p.Arg187=) c.996T>A (p.Arg332=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.71271813C>A | CA371468920 | EYA1 | c.911G>T (p.Arg304Leu) c.809G>T (p.Arg270Leu) c.896G>T (p.Arg299Leu) c.*190G>T (n.*190G>T) c.147G>T n.1374G>T c.*678G>T (n.*678G>T) c.998G>T (p.Arg333Leu) c.983G>T (p.Arg328Leu) c.980G>T (p.Arg327Leu) c.893G>T (p.Arg298Leu) c.812G>T (p.Arg271Leu) c.908G>T (p.Arg303Leu) c.-173G>T (n.-173G>T) n.1406G>T c.545G>T (p.Arg182Leu) c.848G>T (p.Arg283Leu) c.560G>T (p.Arg187Leu) c.995G>T (p.Arg332Leu) | |
| 8 | g.71271813C= | CA1792716241 | EYA1 | c.911G= (p.Arg304=) c.809G= (p.Arg270=) c.896G= (p.Arg299=) c.*190G= (n.*190G=) c.147G= n.1374G= c.*678G= (n.*678G=) c.998G= (p.Arg333=) c.983G= (p.Arg328=) c.980G= (p.Arg327=) c.893G= (p.Arg298=) c.812G= (p.Arg271=) c.908G= (p.Arg303=) c.-173G= (n.-173G=) n.1406G= c.545G= (p.Arg182=) c.848G= (p.Arg283=) c.560G= (p.Arg187=) c.995G= (p.Arg332=) | |
| 8 | g.71271813C>G | CA371468922 | EYA1 | c.911G>C (p.Arg304Pro) c.809G>C (p.Arg270Pro) c.896G>C (p.Arg299Pro) c.*190G>C (n.*190G>C) c.147G>C n.1374G>C c.*678G>C (n.*678G>C) c.998G>C (p.Arg333Pro) c.983G>C (p.Arg328Pro) c.980G>C (p.Arg327Pro) c.893G>C (p.Arg298Pro) c.812G>C (p.Arg271Pro) c.908G>C (p.Arg303Pro) c.-173G>C (n.-173G>C) n.1406G>C c.545G>C (p.Arg182Pro) c.848G>C (p.Arg283Pro) c.560G>C (p.Arg187Pro) c.995G>C (p.Arg332Pro) | dbSNP |
| 8 | g.71271813C>T | CA179250659 | EYA1 | c.911G>A (p.Arg304His) c.809G>A (p.Arg270His) c.896G>A (p.Arg299His) c.*190G>A (n.*190G>A) c.147G>A n.1374G>A c.*678G>A (n.*678G>A) c.998G>A (p.Arg333His) c.983G>A (p.Arg328His) c.980G>A (p.Arg327His) c.893G>A (p.Arg298His) c.812G>A (p.Arg271His) c.908G>A (p.Arg303His) c.-173G>A (n.-173G>A) n.1406G>A c.545G>A (p.Arg182His) c.848G>A (p.Arg283His) c.560G>A (p.Arg187His) c.995G>A (p.Arg332His) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 8 | g.71271814G>A | CA4779627 | EYA1 | c.910C>T (p.Arg304Cys) c.808C>T (p.Arg270Cys) c.895C>T (p.Arg299Cys) c.*189C>T (n.*189C>T) c.146C>T n.1373C>T c.*677C>T (n.*677C>T) c.997C>T (p.Arg333Cys) c.982C>T (p.Arg328Cys) c.979C>T (p.Arg327Cys) c.892C>T (p.Arg298Cys) c.811C>T (p.Arg271Cys) c.907C>T (p.Arg303Cys) c.-174C>T (n.-174C>T) n.1405C>T c.544C>T (p.Arg182Cys) c.847C>T (p.Arg283Cys) c.559C>T (p.Arg187Cys) c.994C>T (p.Arg332Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.71271814G>C | CA371468928 | EYA1 | c.910C>G (p.Arg304Gly) c.808C>G (p.Arg270Gly) c.895C>G (p.Arg299Gly) c.*189C>G (n.*189C>G) c.146C>G n.1373C>G c.*677C>G (n.*677C>G) c.997C>G (p.Arg333Gly) c.982C>G (p.Arg328Gly) c.979C>G (p.Arg327Gly) c.892C>G (p.Arg298Gly) c.811C>G (p.Arg271Gly) c.907C>G (p.Arg303Gly) c.-174C>G (n.-174C>G) n.1405C>G c.544C>G (p.Arg182Gly) c.847C>G (p.Arg283Gly) c.559C>G (p.Arg187Gly) c.994C>G (p.Arg332Gly) | |
| 8 | g.71271814G= | CA1792716242 | EYA1 | c.910C= (p.Arg304=) c.808C= (p.Arg270=) c.895C= (p.Arg299=) c.*189C= (n.*189C=) c.146C= n.1373C= c.*677C= (n.*677C=) c.997C= (p.Arg333=) c.982C= (p.Arg328=) c.979C= (p.Arg327=) c.892C= (p.Arg298=) c.811C= (p.Arg271=) c.907C= (p.Arg303=) c.-174C= (n.-174C=) n.1405C= c.544C= (p.Arg182=) c.847C= (p.Arg283=) c.559C= (p.Arg187=) c.994C= (p.Arg332=) | |
| 8 | g.71271814G>T | CA371468926 | EYA1 | c.910C>A (p.Arg304Ser) c.808C>A (p.Arg270Ser) c.895C>A (p.Arg299Ser) c.*189C>A (n.*189C>A) c.146C>A n.1373C>A c.*677C>A (n.*677C>A) c.997C>A (p.Arg333Ser) c.982C>A (p.Arg328Ser) c.979C>A (p.Arg327Ser) c.892C>A (p.Arg298Ser) c.811C>A (p.Arg271Ser) c.907C>A (p.Arg303Ser) c.-174C>A (n.-174C>A) n.1405C>A c.544C>A (p.Arg182Ser) c.847C>A (p.Arg283Ser) c.559C>A (p.Arg187Ser) c.994C>A (p.Arg332Ser) | |
| 8 | g.71271815T>A | CA461327434 | EYA1 | c.909A>T (p.Ser303=) c.807A>T (p.Ser269=) c.894A>T (p.Ser298=) c.*188A>T (n.*188A>T) c.145A>T n.1372A>T c.*676A>T (n.*676A>T) c.996A>T (p.Ser332=) c.981A>T (p.Ser327=) c.978A>T (p.Ser326=) c.891A>T (p.Ser297=) c.810A>T (p.Ser270=) c.906A>T (p.Ser302=) c.-175A>T (n.-175A>T) n.1404A>T c.543A>T (p.Ser181=) c.846A>T (p.Ser282=) c.558A>T (p.Ser186=) c.993A>T (p.Ser331=) | |
| 8 | g.71271815T>C | CA461327435 | EYA1 | c.909A>G (p.Ser303=) c.807A>G (p.Ser269=) c.894A>G (p.Ser298=) c.*188A>G (n.*188A>G) c.145A>G n.1372A>G c.*676A>G (n.*676A>G) c.996A>G (p.Ser332=) c.981A>G (p.Ser327=) c.978A>G (p.Ser326=) c.891A>G (p.Ser297=) c.810A>G (p.Ser270=) c.906A>G (p.Ser302=) c.-175A>G (n.-175A>G) n.1404A>G c.543A>G (p.Ser181=) c.846A>G (p.Ser282=) c.558A>G (p.Ser186=) c.993A>G (p.Ser331=) | |
| 8 | g.71271815T>G | CA461327436 | EYA1 | c.909A>C (p.Ser303=) c.807A>C (p.Ser269=) c.894A>C (p.Ser298=) c.*188A>C (n.*188A>C) c.145A>C n.1372A>C c.*676A>C (n.*676A>C) c.996A>C (p.Ser332=) c.981A>C (p.Ser327=) c.978A>C (p.Ser326=) c.891A>C (p.Ser297=) c.810A>C (p.Ser270=) c.906A>C (p.Ser302=) c.-175A>C (n.-175A>C) n.1404A>C c.543A>C (p.Ser181=) c.846A>C (p.Ser282=) c.558A>C (p.Ser186=) c.993A>C (p.Ser331=) | |
| 8 | g.71271816G>A | CA179250660 | EYA1 | c.908C>T (p.Ser303Leu) c.806C>T (p.Ser269Leu) c.893C>T (p.Ser298Leu) c.*187C>T (n.*187C>T) c.144C>T n.1371C>T c.*675C>T (n.*675C>T) c.995C>T (p.Ser332Leu) c.980C>T (p.Ser327Leu) c.977C>T (p.Ser326Leu) c.890C>T (p.Ser297Leu) c.809C>T (p.Ser270Leu) c.905C>T (p.Ser302Leu) c.-176C>T (n.-176C>T) n.1403C>T c.542C>T (p.Ser181Leu) c.845C>T (p.Ser282Leu) c.557C>T (p.Ser186Leu) c.992C>T (p.Ser331Leu) | dbSNP gnomAD v4 |
| 8 | g.71271816G>C | CA371468930 | EYA1 | c.908C>G (p.Ser303Ter) c.806C>G (p.Ser269Ter) c.893C>G (p.Ser298Ter) c.*187C>G (n.*187C>G) c.144C>G n.1371C>G c.*675C>G (n.*675C>G) c.995C>G (p.Ser332Ter) c.980C>G (p.Ser327Ter) c.977C>G (p.Ser326Ter) c.890C>G (p.Ser297Ter) c.809C>G (p.Ser270Ter) c.905C>G (p.Ser302Ter) c.-176C>G (n.-176C>G) n.1403C>G c.542C>G (p.Ser181Ter) c.845C>G (p.Ser282Ter) c.557C>G (p.Ser186Ter) c.992C>G (p.Ser331Ter) | |
| 8 | g.71271816G= | CA1792716243 | EYA1 | c.908C= (p.Ser303=) c.806C= (p.Ser269=) c.893C= (p.Ser298=) c.*187C= (n.*187C=) c.144C= n.1371C= c.*675C= (n.*675C=) c.995C= (p.Ser332=) c.980C= (p.Ser327=) c.977C= (p.Ser326=) c.890C= (p.Ser297=) c.809C= (p.Ser270=) c.905C= (p.Ser302=) c.-176C= (n.-176C=) n.1403C= c.542C= (p.Ser181=) c.845C= (p.Ser282=) c.557C= (p.Ser186=) c.992C= (p.Ser331=) | |
| 8 | g.71271816G>T | CA371468932 | EYA1 | c.908C>A (p.Ser303Ter) c.806C>A (p.Ser269Ter) c.893C>A (p.Ser298Ter) c.*187C>A (n.*187C>A) c.144C>A n.1371C>A c.*675C>A (n.*675C>A) c.995C>A (p.Ser332Ter) c.980C>A (p.Ser327Ter) c.977C>A (p.Ser326Ter) c.890C>A (p.Ser297Ter) c.809C>A (p.Ser270Ter) c.905C>A (p.Ser302Ter) c.-176C>A (n.-176C>A) n.1403C>A c.542C>A (p.Ser181Ter) c.845C>A (p.Ser282Ter) c.557C>A (p.Ser186Ter) c.992C>A (p.Ser331Ter) | |
| 8 | g.71271817A>C | CA371468934 | EYA1 | c.907T>G (p.Ser303Ala) c.805T>G (p.Ser269Ala) c.892T>G (p.Ser298Ala) c.*186T>G (n.*186T>G) c.143T>G n.1370T>G c.*674T>G (n.*674T>G) c.994T>G (p.Ser332Ala) c.979T>G (p.Ser327Ala) c.976T>G (p.Ser326Ala) c.889T>G (p.Ser297Ala) c.808T>G (p.Ser270Ala) c.904T>G (p.Ser302Ala) c.-177T>G (n.-177T>G) n.1402T>G c.541T>G (p.Ser181Ala) c.844T>G (p.Ser282Ala) c.556T>G (p.Ser186Ala) c.991T>G (p.Ser331Ala) | |
| 8 | g.71271817A>G | CA371468936 | EYA1 | c.907T>C (p.Ser303Pro) c.805T>C (p.Ser269Pro) c.892T>C (p.Ser298Pro) c.*186T>C (n.*186T>C) c.143T>C n.1370T>C c.*674T>C (n.*674T>C) c.994T>C (p.Ser332Pro) c.979T>C (p.Ser327Pro) c.976T>C (p.Ser326Pro) c.889T>C (p.Ser297Pro) c.808T>C (p.Ser270Pro) c.904T>C (p.Ser302Pro) c.-177T>C (n.-177T>C) n.1402T>C c.541T>C (p.Ser181Pro) c.844T>C (p.Ser282Pro) c.556T>C (p.Ser186Pro) c.991T>C (p.Ser331Pro) | |
| 8 | g.71271817A>T | CA371468938 | EYA1 | c.907T>A (p.Ser303Thr) c.805T>A (p.Ser269Thr) c.892T>A (p.Ser298Thr) c.*186T>A (n.*186T>A) c.143T>A n.1370T>A c.*674T>A (n.*674T>A) c.994T>A (p.Ser332Thr) c.979T>A (p.Ser327Thr) c.976T>A (p.Ser326Thr) c.889T>A (p.Ser297Thr) c.808T>A (p.Ser270Thr) c.904T>A (p.Ser302Thr) c.-177T>A (n.-177T>A) n.1402T>A c.541T>A (p.Ser181Thr) c.844T>A (p.Ser282Thr) c.556T>A (p.Ser186Thr) c.991T>A (p.Ser331Thr) | |
| 8 | g.71271818T>A | CA371468940 | EYA1 | c.906A>T (p.Lys302Asn) c.804A>T (p.Lys268Asn) c.891A>T (p.Lys297Asn) c.*185A>T (n.*185A>T) c.142A>T n.1369A>T c.*673A>T (n.*673A>T) c.993A>T (p.Lys331Asn) c.978A>T (p.Lys326Asn) c.975A>T (p.Lys325Asn) c.888A>T (p.Lys296Asn) c.807A>T (p.Lys269Asn) c.903A>T (p.Lys301Asn) c.-178A>T (n.-178A>T) n.1401A>T c.540A>T (p.Lys180Asn) c.843A>T (p.Lys281Asn) c.555A>T (p.Lys185Asn) c.990A>T (p.Lys330Asn) | ClinVar |
| 8 | g.71271818T>C | CA461327437 | EYA1 | c.906A>G (p.Lys302=) c.804A>G (p.Lys268=) c.891A>G (p.Lys297=) c.*185A>G (n.*185A>G) c.142A>G n.1369A>G c.*673A>G (n.*673A>G) c.993A>G (p.Lys331=) c.978A>G (p.Lys326=) c.975A>G (p.Lys325=) c.888A>G (p.Lys296=) c.807A>G (p.Lys269=) c.903A>G (p.Lys301=) c.-178A>G (n.-178A>G) n.1401A>G c.540A>G (p.Lys180=) c.843A>G (p.Lys281=) c.555A>G (p.Lys185=) c.990A>G (p.Lys330=) | |
| 8 | g.71271818T>G | CA371468942 | EYA1 | c.906A>C (p.Lys302Asn) c.804A>C (p.Lys268Asn) c.891A>C (p.Lys297Asn) c.*185A>C (n.*185A>C) c.142A>C n.1369A>C c.*673A>C (n.*673A>C) c.993A>C (p.Lys331Asn) c.978A>C (p.Lys326Asn) c.975A>C (p.Lys325Asn) c.888A>C (p.Lys296Asn) c.807A>C (p.Lys269Asn) c.903A>C (p.Lys301Asn) c.-178A>C (n.-178A>C) n.1401A>C c.540A>C (p.Lys180Asn) c.843A>C (p.Lys281Asn) c.555A>C (p.Lys185Asn) c.990A>C (p.Lys330Asn) | |
| 8 | g.71271819T>A | CA371468944 | EYA1 | c.905A>T (p.Lys302Ile) c.803A>T (p.Lys268Ile) c.890A>T (p.Lys297Ile) c.*184A>T (n.*184A>T) c.141A>T n.1368A>T c.*672A>T (n.*672A>T) c.992A>T (p.Lys331Ile) c.977A>T (p.Lys326Ile) c.974A>T (p.Lys325Ile) c.887A>T (p.Lys296Ile) c.806A>T (p.Lys269Ile) c.902A>T (p.Lys301Ile) c.-179A>T (n.-179A>T) n.1400A>T c.539A>T (p.Lys180Ile) c.842A>T (p.Lys281Ile) c.554A>T (p.Lys185Ile) c.989A>T (p.Lys330Ile) | |
| 8 | g.71271819T>C | CA371468946 | EYA1 | c.905A>G (p.Lys302Arg) c.803A>G (p.Lys268Arg) c.890A>G (p.Lys297Arg) c.*184A>G (n.*184A>G) c.141A>G n.1368A>G c.*672A>G (n.*672A>G) c.992A>G (p.Lys331Arg) c.977A>G (p.Lys326Arg) c.974A>G (p.Lys325Arg) c.887A>G (p.Lys296Arg) c.806A>G (p.Lys269Arg) c.902A>G (p.Lys301Arg) c.-179A>G (n.-179A>G) n.1400A>G c.539A>G (p.Lys180Arg) c.842A>G (p.Lys281Arg) c.554A>G (p.Lys185Arg) c.989A>G (p.Lys330Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.71271819T>G | CA371468948 | EYA1 | c.905A>C (p.Lys302Thr) c.803A>C (p.Lys268Thr) c.890A>C (p.Lys297Thr) c.*184A>C (n.*184A>C) c.141A>C n.1368A>C c.*672A>C (n.*672A>C) c.992A>C (p.Lys331Thr) c.977A>C (p.Lys326Thr) c.974A>C (p.Lys325Thr) c.887A>C (p.Lys296Thr) c.806A>C (p.Lys269Thr) c.902A>C (p.Lys301Thr) c.-179A>C (n.-179A>C) n.1400A>C c.539A>C (p.Lys180Thr) c.842A>C (p.Lys281Thr) c.554A>C (p.Lys185Thr) c.989A>C (p.Lys330Thr) | |
| 8 | g.71271819T= | CA1792716244 | EYA1 | c.905A= (p.Lys302=) c.803A= (p.Lys268=) c.890A= (p.Lys297=) c.*184A= (n.*184A=) c.141A= n.1368A= c.*672A= (n.*672A=) c.992A= (p.Lys331=) c.977A= (p.Lys326=) c.974A= (p.Lys325=) c.887A= (p.Lys296=) c.806A= (p.Lys269=) c.902A= (p.Lys301=) c.-179A= (n.-179A=) n.1400A= c.539A= (p.Lys180=) c.842A= (p.Lys281=) c.554A= (p.Lys185=) c.989A= (p.Lys330=) | |
| 8 | g.71271820T>A | CA371468951 | EYA1 | c.904A>T (p.Lys302Ter) c.802A>T (p.Lys268Ter) c.889A>T (p.Lys297Ter) c.*183A>T (n.*183A>T) c.140A>T n.1367A>T c.*671A>T (n.*671A>T) c.991A>T (p.Lys331Ter) c.976A>T (p.Lys326Ter) c.973A>T (p.Lys325Ter) c.886A>T (p.Lys296Ter) c.805A>T (p.Lys269Ter) c.901A>T (p.Lys301Ter) c.-180A>T (n.-180A>T) n.1399A>T c.538A>T (p.Lys180Ter) c.841A>T (p.Lys281Ter) c.553A>T (p.Lys185Ter) c.988A>T (p.Lys330Ter) | |
| 8 | g.71271820T>C | CA371468952 | EYA1 | c.904A>G (p.Lys302Glu) c.802A>G (p.Lys268Glu) c.889A>G (p.Lys297Glu) c.*183A>G (n.*183A>G) c.140A>G n.1367A>G c.*671A>G (n.*671A>G) c.991A>G (p.Lys331Glu) c.976A>G (p.Lys326Glu) c.973A>G (p.Lys325Glu) c.886A>G (p.Lys296Glu) c.805A>G (p.Lys269Glu) c.901A>G (p.Lys301Glu) c.-180A>G (n.-180A>G) n.1399A>G c.538A>G (p.Lys180Glu) c.841A>G (p.Lys281Glu) c.553A>G (p.Lys185Glu) c.988A>G (p.Lys330Glu) | |
| 8 | g.71271820T>G | CA179250663 | EYA1 | c.904A>C (p.Lys302Gln) c.802A>C (p.Lys268Gln) c.889A>C (p.Lys297Gln) c.*183A>C (n.*183A>C) c.140A>C n.1367A>C c.*671A>C (n.*671A>C) c.991A>C (p.Lys331Gln) c.976A>C (p.Lys326Gln) c.973A>C (p.Lys325Gln) c.886A>C (p.Lys296Gln) c.805A>C (p.Lys269Gln) c.901A>C (p.Lys301Gln) c.-180A>C (n.-180A>C) n.1399A>C c.538A>C (p.Lys180Gln) c.841A>C (p.Lys281Gln) c.553A>C (p.Lys185Gln) c.988A>C (p.Lys330Gln) | dbSNP gnomAD v4 |
| 8 | g.71271820T= | CA1792716245 | EYA1 | c.904A= (p.Lys302=) c.802A= (p.Lys268=) c.889A= (p.Lys297=) c.*183A= (n.*183A=) c.140A= n.1367A= c.*671A= (n.*671A=) c.991A= (p.Lys331=) c.976A= (p.Lys326=) c.973A= (p.Lys325=) c.886A= (p.Lys296=) c.805A= (p.Lys269=) c.901A= (p.Lys301=) c.-180A= (n.-180A=) n.1399A= c.538A= (p.Lys180=) c.841A= (p.Lys281=) c.553A= (p.Lys185=) c.988A= (p.Lys330=) | |
| 8 | g.71271820_71271821insG | CA2687600534 | EYA1 | c.903_904insC (p.Lys302GlnfsTer11) c.801_802insC (p.Lys268GlnfsTer11) c.888_889insC (p.Lys297GlnfsTer11) c.*182_*183insC (n.*182_*183insC) c.139_140insC n.1366_1367insC c.*670_*671insC (n.*670_*671insC) c.990_991insC (p.Lys331GlnfsTer11) c.975_976insC (p.Lys326GlnfsTer11) c.972_973insC (p.Lys325GlnfsTer11) c.885_886insC (p.Lys296GlnfsTer11) c.804_805insC (p.Lys269GlnfsTer11) c.900_901insC (p.Lys301GlnfsTer11) c.-181_-180insC (n.-181_-180insC) n.1398_1399insC c.537_538insC (p.Lys180GlnfsTer11) c.840_841insC (p.Lys281GlnfsTer11) c.552_553insC (p.Lys185GlnfsTer11) c.987_988insC (p.Lys330GlnfsTer11) | gnomAD v4 |
| 8 | g.71271821C>A | CA461327440 | EYA1 | c.903G>T (p.Gly301=) c.801G>T (p.Gly267=) c.888G>T (p.Gly296=) c.*182G>T (n.*182G>T) c.139G>T n.1366G>T c.*670G>T (n.*670G>T) c.990G>T (p.Gly330=) c.975G>T (p.Gly325=) c.972G>T (p.Gly324=) c.885G>T (p.Gly295=) c.804G>T (p.Gly268=) c.900G>T (p.Gly300=) c.-181G>T (n.-181G>T) n.1398G>T c.537G>T (p.Gly179=) c.840G>T (p.Gly280=) c.552G>T (p.Gly184=) c.987G>T (p.Gly329=) | |
| 8 | g.71271821C= | CA1792716246 | EYA1 | c.903G= (p.Gly301=) c.801G= (p.Gly267=) c.888G= (p.Gly296=) c.*182G= (n.*182G=) c.139G= n.1366G= c.*670G= (n.*670G=) c.990G= (p.Gly330=) c.975G= (p.Gly325=) c.972G= (p.Gly324=) c.885G= (p.Gly295=) c.804G= (p.Gly268=) c.900G= (p.Gly300=) c.-181G= (n.-181G=) n.1398G= c.537G= (p.Gly179=) c.840G= (p.Gly280=) c.552G= (p.Gly184=) c.987G= (p.Gly329=) | |
| 8 | g.71271821C>G | CA461327439 | EYA1 | c.903G>C (p.Gly301=) c.801G>C (p.Gly267=) c.888G>C (p.Gly296=) c.*182G>C (n.*182G>C) c.139G>C n.1366G>C c.*670G>C (n.*670G>C) c.990G>C (p.Gly330=) c.975G>C (p.Gly325=) c.972G>C (p.Gly324=) c.885G>C (p.Gly295=) c.804G>C (p.Gly268=) c.900G>C (p.Gly300=) c.-181G>C (n.-181G>C) n.1398G>C c.537G>C (p.Gly179=) c.840G>C (p.Gly280=) c.552G>C (p.Gly184=) c.987G>C (p.Gly329=) | |
| 8 | g.71271821C>T | CA461327438 | EYA1 | c.903G>A (p.Gly301=) c.801G>A (p.Gly267=) c.888G>A (p.Gly296=) c.*182G>A (n.*182G>A) c.139G>A n.1366G>A c.*670G>A (n.*670G>A) c.990G>A (p.Gly330=) c.975G>A (p.Gly325=) c.972G>A (p.Gly324=) c.885G>A (p.Gly295=) c.804G>A (p.Gly268=) c.900G>A (p.Gly300=) c.-181G>A (n.-181G>A) n.1398G>A c.537G>A (p.Gly179=) c.840G>A (p.Gly280=) c.552G>A (p.Gly184=) c.987G>A (p.Gly329=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.71271821_71271822insGT | CA2687600535 | EYA1 | c.902_903insAC (p.Lys302ArgfsTer?) c.800_801insAC (p.Lys268ArgfsTer?) c.887_888insAC (p.Lys297ArgfsTer?) c.*181_*182insAC (n.*181_*182insAC) c.138_139insAC n.1365_1366insAC c.*669_*670insAC (n.*669_*670insAC) c.989_990insAC (p.Lys331ArgfsTer?) c.974_975insAC (p.Lys326ArgfsTer?) c.971_972insAC (p.Lys325ArgfsTer?) c.884_885insAC (p.Lys296ArgfsTer?) c.803_804insAC (p.Lys269ArgfsTer?) c.899_900insAC (p.Lys301ArgfsTer?) c.-182_-181insAC (n.-182_-181insAC) n.1397_1398insAC c.536_537insAC (p.Lys180ArgfsTer?) c.839_840insAC (p.Lys281ArgfsTer?) c.551_552insAC (p.Lys185ArgfsTer?) c.986_987insAC (p.Lys330ArgfsTer?) | gnomAD v4 |
| 8 | g.71271822C>A | CA371468956 | EYA1 | c.902G>T (p.Gly301Val) c.800G>T (p.Gly267Val) c.887G>T (p.Gly296Val) c.*181G>T (n.*181G>T) c.138G>T n.1365G>T c.*669G>T (n.*669G>T) c.989G>T (p.Gly330Val) c.974G>T (p.Gly325Val) c.971G>T (p.Gly324Val) c.884G>T (p.Gly295Val) c.803G>T (p.Gly268Val) c.899G>T (p.Gly300Val) c.-182G>T (n.-182G>T) n.1397G>T c.536G>T (p.Gly179Val) c.839G>T (p.Gly280Val) c.551G>T (p.Gly184Val) c.986G>T (p.Gly329Val) | |
| 8 | g.71271822C>G | CA371468954 | EYA1 | c.902G>C (p.Gly301Ala) c.800G>C (p.Gly267Ala) c.887G>C (p.Gly296Ala) c.*181G>C (n.*181G>C) c.138G>C n.1365G>C c.*669G>C (n.*669G>C) c.989G>C (p.Gly330Ala) c.974G>C (p.Gly325Ala) c.971G>C (p.Gly324Ala) c.884G>C (p.Gly295Ala) c.803G>C (p.Gly268Ala) c.899G>C (p.Gly300Ala) c.-182G>C (n.-182G>C) n.1397G>C c.536G>C (p.Gly179Ala) c.839G>C (p.Gly280Ala) c.551G>C (p.Gly184Ala) c.986G>C (p.Gly329Ala) | |
| 8 | g.71271822C>T | CA371468958 | EYA1 | c.902G>A (p.Gly301Glu) c.800G>A (p.Gly267Glu) c.887G>A (p.Gly296Glu) c.*181G>A (n.*181G>A) c.138G>A n.1365G>A c.*669G>A (n.*669G>A) c.989G>A (p.Gly330Glu) c.974G>A (p.Gly325Glu) c.971G>A (p.Gly324Glu) c.884G>A (p.Gly295Glu) c.803G>A (p.Gly268Glu) c.899G>A (p.Gly300Glu) c.-182G>A (n.-182G>A) n.1397G>A c.536G>A (p.Gly179Glu) c.839G>A (p.Gly280Glu) c.551G>A (p.Gly184Glu) c.986G>A (p.Gly329Glu) | |
| 8 | g.71271823C>A | CA371468960 | EYA1 | c.901G>T (p.Gly301Trp) c.799G>T (p.Gly267Trp) c.886G>T (p.Gly296Trp) c.*180G>T (n.*180G>T) c.137G>T n.1364G>T c.*668G>T (n.*668G>T) c.988G>T (p.Gly330Trp) c.973G>T (p.Gly325Trp) c.970G>T (p.Gly324Trp) c.883G>T (p.Gly295Trp) c.802G>T (p.Gly268Trp) c.898G>T (p.Gly300Trp) c.-183G>T (n.-183G>T) n.1396G>T c.535G>T (p.Gly179Trp) c.838G>T (p.Gly280Trp) c.550G>T (p.Gly184Trp) c.985G>T (p.Gly329Trp) | COSMIC COSMIC |
| 8 | g.71271823C>G | CA371468961 | EYA1 | c.901G>C (p.Gly301Arg) c.799G>C (p.Gly267Arg) c.886G>C (p.Gly296Arg) c.*180G>C (n.*180G>C) c.137G>C n.1364G>C c.*668G>C (n.*668G>C) c.988G>C (p.Gly330Arg) c.973G>C (p.Gly325Arg) c.970G>C (p.Gly324Arg) c.883G>C (p.Gly295Arg) c.802G>C (p.Gly268Arg) c.898G>C (p.Gly300Arg) c.-183G>C (n.-183G>C) n.1396G>C c.535G>C (p.Gly179Arg) c.838G>C (p.Gly280Arg) c.550G>C (p.Gly184Arg) c.985G>C (p.Gly329Arg) | |
| 8 | g.71271823C>T | CA371468963 | EYA1 | c.901G>A (p.Gly301Arg) c.799G>A (p.Gly267Arg) c.886G>A (p.Gly296Arg) c.*180G>A (n.*180G>A) c.137G>A n.1364G>A c.*668G>A (n.*668G>A) c.988G>A (p.Gly330Arg) c.973G>A (p.Gly325Arg) c.970G>A (p.Gly324Arg) c.883G>A (p.Gly295Arg) c.802G>A (p.Gly268Arg) c.898G>A (p.Gly300Arg) c.-183G>A (n.-183G>A) n.1396G>A c.535G>A (p.Gly179Arg) c.838G>A (p.Gly280Arg) c.550G>A (p.Gly184Arg) c.985G>A (p.Gly329Arg) | |
| 8 | g.71271824A= | CA1792716247 | EYA1 | c.900T= (p.Asp300=) c.798T= (p.Asp266=) c.885T= (p.Asp295=) c.*179T= (n.*179T=) c.136T= n.1363T= c.*667T= (n.*667T=) c.987T= (p.Asp329=) c.972T= (p.Asp324=) c.969T= (p.Asp323=) c.882T= (p.Asp294=) c.801T= (p.Asp267=) c.897T= (p.Asp299=) c.-184T= (n.-184T=) n.1395T= c.534T= (p.Asp178=) c.837T= (p.Asp279=) c.549T= (p.Asp183=) c.984T= (p.Asp328=) | |
| 8 | g.71271824A>C | CA371468965 | EYA1 | c.900T>G (p.Asp300Glu) c.798T>G (p.Asp266Glu) c.885T>G (p.Asp295Glu) c.*179T>G (n.*179T>G) c.136T>G n.1363T>G c.*667T>G (n.*667T>G) c.987T>G (p.Asp329Glu) c.972T>G (p.Asp324Glu) c.969T>G (p.Asp323Glu) c.882T>G (p.Asp294Glu) c.801T>G (p.Asp267Glu) c.897T>G (p.Asp299Glu) c.-184T>G (n.-184T>G) n.1395T>G c.534T>G (p.Asp178Glu) c.837T>G (p.Asp279Glu) c.549T>G (p.Asp183Glu) c.984T>G (p.Asp328Glu) | |
| 8 | g.71271824A>G | CA4779628 | EYA1 | c.900T>C (p.Asp300=) c.798T>C (p.Asp266=) c.885T>C (p.Asp295=) c.*179T>C (n.*179T>C) c.136T>C n.1363T>C c.*667T>C (n.*667T>C) c.987T>C (p.Asp329=) c.972T>C (p.Asp324=) c.969T>C (p.Asp323=) c.882T>C (p.Asp294=) c.801T>C (p.Asp267=) c.897T>C (p.Asp299=) c.-184T>C (n.-184T>C) n.1395T>C c.534T>C (p.Asp178=) c.837T>C (p.Asp279=) c.549T>C (p.Asp183=) c.984T>C (p.Asp328=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.71271824A>T | CA371468967 | EYA1 | c.900T>A (p.Asp300Glu) c.798T>A (p.Asp266Glu) c.885T>A (p.Asp295Glu) c.*179T>A (n.*179T>A) c.136T>A n.1363T>A c.*667T>A (n.*667T>A) c.987T>A (p.Asp329Glu) c.972T>A (p.Asp324Glu) c.969T>A (p.Asp323Glu) c.882T>A (p.Asp294Glu) c.801T>A (p.Asp267Glu) c.897T>A (p.Asp299Glu) c.-184T>A (n.-184T>A) n.1395T>A c.534T>A (p.Asp178Glu) c.837T>A (p.Asp279Glu) c.549T>A (p.Asp183Glu) c.984T>A (p.Asp328Glu) | |
| 8 | g.71271825T>A | CA371468969 | EYA1 | c.899A>T (p.Asp300Val) c.797A>T (p.Asp266Val) c.884A>T (p.Asp295Val) c.*178A>T (n.*178A>T) c.135A>T n.1362A>T c.*666A>T (n.*666A>T) c.986A>T (p.Asp329Val) c.971A>T (p.Asp324Val) c.968A>T (p.Asp323Val) c.881A>T (p.Asp294Val) c.800A>T (p.Asp267Val) c.896A>T (p.Asp299Val) c.-185A>T (n.-185A>T) n.1394A>T c.533A>T (p.Asp178Val) c.836A>T (p.Asp279Val) c.548A>T (p.Asp183Val) c.983A>T (p.Asp328Val) | |
| 8 | g.71271825T>C | CA371468971 | EYA1 | c.899A>G (p.Asp300Gly) c.797A>G (p.Asp266Gly) c.884A>G (p.Asp295Gly) c.*178A>G (n.*178A>G) c.135A>G n.1362A>G c.*666A>G (n.*666A>G) c.986A>G (p.Asp329Gly) c.971A>G (p.Asp324Gly) c.968A>G (p.Asp323Gly) c.881A>G (p.Asp294Gly) c.800A>G (p.Asp267Gly) c.896A>G (p.Asp299Gly) c.-185A>G (n.-185A>G) n.1394A>G c.533A>G (p.Asp178Gly) c.836A>G (p.Asp279Gly) c.548A>G (p.Asp183Gly) c.983A>G (p.Asp328Gly) | |
| 8 | g.71271825T>G | CA371468972 | EYA1 | c.899A>C (p.Asp300Ala) c.797A>C (p.Asp266Ala) c.884A>C (p.Asp295Ala) c.*178A>C (n.*178A>C) c.135A>C n.1362A>C c.*666A>C (n.*666A>C) c.986A>C (p.Asp329Ala) c.971A>C (p.Asp324Ala) c.968A>C (p.Asp323Ala) c.881A>C (p.Asp294Ala) c.800A>C (p.Asp267Ala) c.896A>C (p.Asp299Ala) c.-185A>C (n.-185A>C) n.1394A>C c.533A>C (p.Asp178Ala) c.836A>C (p.Asp279Ala) c.548A>C (p.Asp183Ala) c.983A>C (p.Asp328Ala) | |
| 8 | g.71271826C>A | CA371468974 | EYA1 | c.898G>T (p.Asp300Tyr) c.796G>T (p.Asp266Tyr) c.883G>T (p.Asp295Tyr) c.*177G>T (n.*177G>T) c.134G>T n.1361G>T c.*665G>T (n.*665G>T) c.985G>T (p.Asp329Tyr) c.970G>T (p.Asp324Tyr) c.967G>T (p.Asp323Tyr) c.880G>T (p.Asp294Tyr) c.799G>T (p.Asp267Tyr) c.895G>T (p.Asp299Tyr) c.-186G>T (n.-186G>T) n.1393G>T c.532G>T (p.Asp178Tyr) c.835G>T (p.Asp279Tyr) c.547G>T (p.Asp183Tyr) c.982G>T (p.Asp328Tyr) | |
| 8 | g.71271826C>G | CA371468975 | EYA1 | c.898G>C (p.Asp300His) c.796G>C (p.Asp266His) c.883G>C (p.Asp295His) c.*177G>C (n.*177G>C) c.134G>C n.1361G>C c.*665G>C (n.*665G>C) c.985G>C (p.Asp329His) c.970G>C (p.Asp324His) c.967G>C (p.Asp323His) c.880G>C (p.Asp294His) c.799G>C (p.Asp267His) c.895G>C (p.Asp299His) c.-186G>C (n.-186G>C) n.1393G>C c.532G>C (p.Asp178His) c.835G>C (p.Asp279His) c.547G>C (p.Asp183His) c.982G>C (p.Asp328His) | |
| 8 | g.71271826C>T | CA371468976 | EYA1 | c.898G>A (p.Asp300Asn) c.796G>A (p.Asp266Asn) c.883G>A (p.Asp295Asn) c.*177G>A (n.*177G>A) c.134G>A n.1361G>A c.*665G>A (n.*665G>A) c.985G>A (p.Asp329Asn) c.970G>A (p.Asp324Asn) c.967G>A (p.Asp323Asn) c.880G>A (p.Asp294Asn) c.799G>A (p.Asp267Asn) c.895G>A (p.Asp299Asn) c.-186G>A (n.-186G>A) n.1393G>A c.532G>A (p.Asp178Asn) c.835G>A (p.Asp279Asn) c.547G>A (p.Asp183Asn) c.982G>A (p.Asp328Asn) | |
| 8 | g.71271827T>A | CA461327441 | EYA1 | c.897A>T (p.Ser299=) c.795A>T (p.Ser265=) c.882A>T (p.Ser294=) c.*176A>T (n.*176A>T) c.133A>T n.1360A>T c.*664A>T (n.*664A>T) c.984A>T (p.Ser328=) c.969A>T (p.Ser323=) c.966A>T (p.Ser322=) c.879A>T (p.Ser293=) c.798A>T (p.Ser266=) c.894A>T (p.Ser298=) c.-187A>T (n.-187A>T) n.1392A>T c.531A>T (p.Ser177=) c.834A>T (p.Ser278=) c.546A>T (p.Ser182=) c.981A>T (p.Ser327=) | |
| 8 | g.71271827T>C | CA461327442 | EYA1 | c.897A>G (p.Ser299=) c.795A>G (p.Ser265=) c.882A>G (p.Ser294=) c.*176A>G (n.*176A>G) c.133A>G n.1360A>G c.*664A>G (n.*664A>G) c.984A>G (p.Ser328=) c.969A>G (p.Ser323=) c.966A>G (p.Ser322=) c.879A>G (p.Ser293=) c.798A>G (p.Ser266=) c.894A>G (p.Ser298=) c.-187A>G (n.-187A>G) n.1392A>G c.531A>G (p.Ser177=) c.834A>G (p.Ser278=) c.546A>G (p.Ser182=) c.981A>G (p.Ser327=) | |
| 8 | g.71271827T>G | CA461327443 | EYA1 | c.897A>C (p.Ser299=) c.795A>C (p.Ser265=) c.882A>C (p.Ser294=) c.*176A>C (n.*176A>C) c.133A>C n.1360A>C c.*664A>C (n.*664A>C) c.984A>C (p.Ser328=) c.969A>C (p.Ser323=) c.966A>C (p.Ser322=) c.879A>C (p.Ser293=) c.798A>C (p.Ser266=) c.894A>C (p.Ser298=) c.-187A>C (n.-187A>C) n.1392A>C c.531A>C (p.Ser177=) c.834A>C (p.Ser278=) c.546A>C (p.Ser182=) c.981A>C (p.Ser327=) | |
| 8 | g.71271828G>A | CA371468981 | EYA1 | c.896C>T (p.Ser299Leu) c.794C>T (p.Ser265Leu) c.881C>T (p.Ser294Leu) c.*175C>T (n.*175C>T) c.132C>T n.1359C>T c.*663C>T (n.*663C>T) c.983C>T (p.Ser328Leu) c.968C>T (p.Ser323Leu) c.965C>T (p.Ser322Leu) c.878C>T (p.Ser293Leu) c.797C>T (p.Ser266Leu) c.893C>T (p.Ser298Leu) c.-188C>T (n.-188C>T) n.1391C>T c.530C>T (p.Ser177Leu) c.833C>T (p.Ser278Leu) c.545C>T (p.Ser182Leu) c.980C>T (p.Ser327Leu) | |
| 8 | g.71271828G>C | CA371468979 | EYA1 | c.896C>G (p.Ser299Ter) c.794C>G (p.Ser265Ter) c.881C>G (p.Ser294Ter) c.*175C>G (n.*175C>G) c.132C>G n.1359C>G c.*663C>G (n.*663C>G) c.983C>G (p.Ser328Ter) c.968C>G (p.Ser323Ter) c.965C>G (p.Ser322Ter) c.878C>G (p.Ser293Ter) c.797C>G (p.Ser266Ter) c.893C>G (p.Ser298Ter) c.-188C>G (n.-188C>G) n.1391C>G c.530C>G (p.Ser177Ter) c.833C>G (p.Ser278Ter) c.545C>G (p.Ser182Ter) c.980C>G (p.Ser327Ter) | |
| 8 | g.71271828G= | CA1792716248 | EYA1 | c.896C= (p.Ser299=) c.794C= (p.Ser265=) c.881C= (p.Ser294=) c.*175C= (n.*175C=) c.132C= n.1359C= c.*663C= (n.*663C=) c.983C= (p.Ser328=) c.968C= (p.Ser323=) c.965C= (p.Ser322=) c.878C= (p.Ser293=) c.797C= (p.Ser266=) c.893C= (p.Ser298=) c.-188C= (n.-188C=) n.1391C= c.530C= (p.Ser177=) c.833C= (p.Ser278=) c.545C= (p.Ser182=) c.980C= (p.Ser327=) | |
| 8 | g.71271828G>T | CA10576736 | EYA1 | c.896C>A (p.Ser299Ter) c.794C>A (p.Ser265Ter) c.881C>A (p.Ser294Ter) c.*175C>A (n.*175C>A) c.132C>A n.1359C>A c.*663C>A (n.*663C>A) c.983C>A (p.Ser328Ter) c.968C>A (p.Ser323Ter) c.965C>A (p.Ser322Ter) c.878C>A (p.Ser293Ter) c.797C>A (p.Ser266Ter) c.893C>A (p.Ser298Ter) c.-188C>A (n.-188C>A) n.1391C>A c.530C>A (p.Ser177Ter) c.833C>A (p.Ser278Ter) c.545C>A (p.Ser182Ter) c.980C>A (p.Ser327Ter) | ClinVar dbSNP |
| 8 | g.71271829A>C | CA371468983 | EYA1 | c.895T>G (p.Ser299Ala) c.793T>G (p.Ser265Ala) c.880T>G (p.Ser294Ala) c.*174T>G (n.*174T>G) c.131T>G n.1358T>G c.*662T>G (n.*662T>G) c.982T>G (p.Ser328Ala) c.967T>G (p.Ser323Ala) c.964T>G (p.Ser322Ala) c.877T>G (p.Ser293Ala) c.796T>G (p.Ser266Ala) c.892T>G (p.Ser298Ala) c.-189T>G (n.-189T>G) n.1390T>G c.529T>G (p.Ser177Ala) c.832T>G (p.Ser278Ala) c.544T>G (p.Ser182Ala) c.979T>G (p.Ser327Ala) | |
| 8 | g.71271829A>G | CA371468985 | EYA1 | c.895T>C (p.Ser299Pro) c.793T>C (p.Ser265Pro) c.880T>C (p.Ser294Pro) c.*174T>C (n.*174T>C) c.131T>C n.1358T>C c.*662T>C (n.*662T>C) c.982T>C (p.Ser328Pro) c.967T>C (p.Ser323Pro) c.964T>C (p.Ser322Pro) c.877T>C (p.Ser293Pro) c.796T>C (p.Ser266Pro) c.892T>C (p.Ser298Pro) c.-189T>C (n.-189T>C) n.1390T>C c.529T>C (p.Ser177Pro) c.832T>C (p.Ser278Pro) c.544T>C (p.Ser182Pro) c.979T>C (p.Ser327Pro) | |
| 8 | g.71271829A>T | CA371468986 | EYA1 | c.895T>A (p.Ser299Thr) c.793T>A (p.Ser265Thr) c.880T>A (p.Ser294Thr) c.*174T>A (n.*174T>A) c.131T>A n.1358T>A c.*662T>A (n.*662T>A) c.982T>A (p.Ser328Thr) c.967T>A (p.Ser323Thr) c.964T>A (p.Ser322Thr) c.877T>A (p.Ser293Thr) c.796T>A (p.Ser266Thr) c.892T>A (p.Ser298Thr) c.-189T>A (n.-189T>A) n.1390T>A c.529T>A (p.Ser177Thr) c.832T>A (p.Ser278Thr) c.544T>A (p.Ser182Thr) c.979T>A (p.Ser327Thr) | |
| 8 | g.71271830A>C | CA461327444 | EYA1 | c.894T>G (p.Gly298=) c.792T>G (p.Gly264=) c.879T>G (p.Gly293=) c.*173T>G (n.*173T>G) c.130T>G n.1357T>G c.*661T>G (n.*661T>G) c.981T>G (p.Gly327=) c.966T>G (p.Gly322=) c.963T>G (p.Gly321=) c.876T>G (p.Gly292=) c.795T>G (p.Gly265=) c.891T>G (p.Gly297=) c.-190T>G (n.-190T>G) n.1389T>G c.528T>G (p.Gly176=) c.831T>G (p.Gly277=) c.543T>G (p.Gly181=) c.978T>G (p.Gly326=) | |
| 8 | g.71271830A>G | CA461327445 | EYA1 | c.894T>C (p.Gly298=) c.792T>C (p.Gly264=) c.879T>C (p.Gly293=) c.*173T>C (n.*173T>C) c.130T>C n.1357T>C c.*661T>C (n.*661T>C) c.981T>C (p.Gly327=) c.966T>C (p.Gly322=) c.963T>C (p.Gly321=) c.876T>C (p.Gly292=) c.795T>C (p.Gly265=) c.891T>C (p.Gly297=) c.-190T>C (n.-190T>C) n.1389T>C c.528T>C (p.Gly176=) c.831T>C (p.Gly277=) c.543T>C (p.Gly181=) c.978T>C (p.Gly326=) | |
| 8 | g.71271830A>T | CA461327446 | EYA1 | c.894T>A (p.Gly298=) c.792T>A (p.Gly264=) c.879T>A (p.Gly293=) c.*173T>A (n.*173T>A) c.130T>A n.1357T>A c.*661T>A (n.*661T>A) c.981T>A (p.Gly327=) c.966T>A (p.Gly322=) c.963T>A (p.Gly321=) c.876T>A (p.Gly292=) c.795T>A (p.Gly265=) c.891T>A (p.Gly297=) c.-190T>A (n.-190T>A) n.1389T>A c.528T>A (p.Gly176=) c.831T>A (p.Gly277=) c.543T>A (p.Gly181=) c.978T>A (p.Gly326=) | |
| 8 | g.71271831C>A | CA371468988 | EYA1 | c.893G>T (p.Gly298Val) c.791G>T (p.Gly264Val) c.878G>T (p.Gly293Val) c.*172G>T (n.*172G>T) c.129G>T n.1356G>T c.*660G>T (n.*660G>T) c.980G>T (p.Gly327Val) c.965G>T (p.Gly322Val) c.962G>T (p.Gly321Val) c.875G>T (p.Gly292Val) c.794G>T (p.Gly265Val) c.890G>T (p.Gly297Val) c.-191G>T (n.-191G>T) n.1388G>T c.527G>T (p.Gly176Val) c.830G>T (p.Gly277Val) c.542G>T (p.Gly181Val) c.977G>T (p.Gly326Val) | |
| 8 | g.71271831C= | CA1792716249 | EYA1 | c.893G= (p.Gly298=) c.791G= (p.Gly264=) c.878G= (p.Gly293=) c.*172G= (n.*172G=) c.129G= n.1356G= c.*660G= (n.*660G=) c.980G= (p.Gly327=) c.965G= (p.Gly322=) c.962G= (p.Gly321=) c.875G= (p.Gly292=) c.794G= (p.Gly265=) c.890G= (p.Gly297=) c.-191G= (n.-191G=) n.1388G= c.527G= (p.Gly176=) c.830G= (p.Gly277=) c.542G= (p.Gly181=) c.977G= (p.Gly326=) | |
| 8 | g.71271831C>G | CA371468990 | EYA1 | c.893G>C (p.Gly298Ala) c.791G>C (p.Gly264Ala) c.878G>C (p.Gly293Ala) c.*172G>C (n.*172G>C) c.129G>C n.1356G>C c.*660G>C (n.*660G>C) c.980G>C (p.Gly327Ala) c.965G>C (p.Gly322Ala) c.962G>C (p.Gly321Ala) c.875G>C (p.Gly292Ala) c.794G>C (p.Gly265Ala) c.890G>C (p.Gly297Ala) c.-191G>C (n.-191G>C) n.1388G>C c.527G>C (p.Gly176Ala) c.830G>C (p.Gly277Ala) c.542G>C (p.Gly181Ala) c.977G>C (p.Gly326Ala) | gnomAD v4 |
| 8 | g.71271831C>T | CA371468992 | EYA1 | c.893G>A (p.Gly298Asp) c.791G>A (p.Gly264Asp) c.878G>A (p.Gly293Asp) c.*172G>A (n.*172G>A) c.129G>A n.1356G>A c.*660G>A (n.*660G>A) c.980G>A (p.Gly327Asp) c.965G>A (p.Gly322Asp) c.962G>A (p.Gly321Asp) c.875G>A (p.Gly292Asp) c.794G>A (p.Gly265Asp) c.890G>A (p.Gly297Asp) c.-191G>A (n.-191G>A) n.1388G>A c.527G>A (p.Gly176Asp) c.830G>A (p.Gly277Asp) c.542G>A (p.Gly181Asp) c.977G>A (p.Gly326Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.71271832C>A | CA371468994 | EYA1 | c.892G>T (p.Gly298Cys) c.790G>T (p.Gly264Cys) c.877G>T (p.Gly293Cys) c.*171G>T (n.*171G>T) c.128G>T n.1355G>T c.*659G>T (n.*659G>T) c.979G>T (p.Gly327Cys) c.964G>T (p.Gly322Cys) c.961G>T (p.Gly321Cys) c.874G>T (p.Gly292Cys) c.793G>T (p.Gly265Cys) c.889G>T (p.Gly297Cys) c.-192G>T (n.-192G>T) n.1387G>T c.526G>T (p.Gly176Cys) c.829G>T (p.Gly277Cys) c.541G>T (p.Gly181Cys) c.976G>T (p.Gly326Cys) | COSMIC COSMIC |
| 8 | g.71271832C= | CA1792716250 | EYA1 | c.892G= (p.Gly298=) c.790G= (p.Gly264=) c.877G= (p.Gly293=) c.*171G= (n.*171G=) c.128G= n.1355G= c.*659G= (n.*659G=) c.979G= (p.Gly327=) c.964G= (p.Gly322=) c.961G= (p.Gly321=) c.874G= (p.Gly292=) c.793G= (p.Gly265=) c.889G= (p.Gly297=) c.-192G= (n.-192G=) n.1387G= c.526G= (p.Gly176=) c.829G= (p.Gly277=) c.541G= (p.Gly181=) c.976G= (p.Gly326=) | |
| 8 | g.71271832C>G | CA371468996 | EYA1 | c.892G>C (p.Gly298Arg) c.790G>C (p.Gly264Arg) c.877G>C (p.Gly293Arg) c.*171G>C (n.*171G>C) c.128G>C n.1355G>C c.*659G>C (n.*659G>C) c.979G>C (p.Gly327Arg) c.964G>C (p.Gly322Arg) c.961G>C (p.Gly321Arg) c.874G>C (p.Gly292Arg) c.793G>C (p.Gly265Arg) c.889G>C (p.Gly297Arg) c.-192G>C (n.-192G>C) n.1387G>C c.526G>C (p.Gly176Arg) c.829G>C (p.Gly277Arg) c.541G>C (p.Gly181Arg) c.976G>C (p.Gly326Arg) | |
| 8 | g.71271832C>T | CA4779629 | EYA1 | c.892G>A (p.Gly298Ser) c.790G>A (p.Gly264Ser) c.877G>A (p.Gly293Ser) c.*171G>A (n.*171G>A) c.128G>A n.1355G>A c.*659G>A (n.*659G>A) c.979G>A (p.Gly327Ser) c.964G>A (p.Gly322Ser) c.961G>A (p.Gly321Ser) c.874G>A (p.Gly292Ser) c.793G>A (p.Gly265Ser) c.889G>A (p.Gly297Ser) c.-192G>A (n.-192G>A) n.1387G>A c.526G>A (p.Gly176Ser) c.829G>A (p.Gly277Ser) c.541G>A (p.Gly181Ser) c.976G>A (p.Gly326Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.71271833T>A | CA461327447 | EYA1 | c.891A>T (p.Arg297=) c.789A>T (p.Arg263=) c.876A>T (p.Arg292=) c.*170A>T (n.*170A>T) c.127A>T n.1354A>T c.*658A>T (n.*658A>T) c.978A>T (p.Arg326=) c.963A>T (p.Arg321=) c.960A>T (p.Arg320=) c.873A>T (p.Arg291=) c.792A>T (p.Arg264=) c.888A>T (p.Arg296=) c.-193A>T (n.-193A>T) n.1386A>T c.525A>T (p.Arg175=) c.828A>T (p.Arg276=) c.540A>T (p.Arg180=) c.975A>T (p.Arg325=) | |
| 8 | g.71271833T>C | CA461327448 | EYA1 | c.891A>G (p.Arg297=) c.789A>G (p.Arg263=) c.876A>G (p.Arg292=) c.*170A>G (n.*170A>G) c.127A>G n.1354A>G c.*658A>G (n.*658A>G) c.978A>G (p.Arg326=) c.963A>G (p.Arg321=) c.960A>G (p.Arg320=) c.873A>G (p.Arg291=) c.792A>G (p.Arg264=) c.888A>G (p.Arg296=) c.-193A>G (n.-193A>G) n.1386A>G c.525A>G (p.Arg175=) c.828A>G (p.Arg276=) c.540A>G (p.Arg180=) c.975A>G (p.Arg325=) | |
| 8 | g.71271833T>G | CA461327449 | EYA1 | c.891A>C (p.Arg297=) c.789A>C (p.Arg263=) c.876A>C (p.Arg292=) c.*170A>C (n.*170A>C) c.127A>C n.1354A>C c.*658A>C (n.*658A>C) c.978A>C (p.Arg326=) c.963A>C (p.Arg321=) c.960A>C (p.Arg320=) c.873A>C (p.Arg291=) c.792A>C (p.Arg264=) c.888A>C (p.Arg296=) c.-193A>C (n.-193A>C) n.1386A>C c.525A>C (p.Arg175=) c.828A>C (p.Arg276=) c.540A>C (p.Arg180=) c.975A>C (p.Arg325=) | gnomAD v4 |
| 8 | g.71271834C>A | CA371469000 | EYA1 | c.890G>T (p.Arg297Leu) c.788G>T (p.Arg263Leu) c.875G>T (p.Arg292Leu) c.*169G>T (n.*169G>T) c.126G>T n.1353G>T c.*657G>T (n.*657G>T) c.977G>T (p.Arg326Leu) c.962G>T (p.Arg321Leu) c.959G>T (p.Arg320Leu) c.872G>T (p.Arg291Leu) c.791G>T (p.Arg264Leu) c.887G>T (p.Arg296Leu) c.-194G>T (n.-194G>T) n.1385G>T c.524G>T (p.Arg175Leu) c.827G>T (p.Arg276Leu) c.539G>T (p.Arg180Leu) c.974G>T (p.Arg325Leu) | |
| 8 | g.71271834C= | CA1792716251 | EYA1 | c.890G= (p.Arg297=) c.788G= (p.Arg263=) c.875G= (p.Arg292=) c.*169G= (n.*169G=) c.126G= n.1353G= c.*657G= (n.*657G=) c.977G= (p.Arg326=) c.962G= (p.Arg321=) c.959G= (p.Arg320=) c.872G= (p.Arg291=) c.791G= (p.Arg264=) c.887G= (p.Arg296=) c.-194G= (n.-194G=) n.1385G= c.524G= (p.Arg175=) c.827G= (p.Arg276=) c.539G= (p.Arg180=) c.974G= (p.Arg325=) | |
| 8 | g.71271834C>G | CA371469002 | EYA1 | c.890G>C (p.Arg297Pro) c.788G>C (p.Arg263Pro) c.875G>C (p.Arg292Pro) c.*169G>C (n.*169G>C) c.126G>C n.1353G>C c.*657G>C (n.*657G>C) c.977G>C (p.Arg326Pro) c.962G>C (p.Arg321Pro) c.959G>C (p.Arg320Pro) c.872G>C (p.Arg291Pro) c.791G>C (p.Arg264Pro) c.887G>C (p.Arg296Pro) c.-194G>C (n.-194G>C) n.1385G>C c.524G>C (p.Arg175Pro) c.827G>C (p.Arg276Pro) c.539G>C (p.Arg180Pro) c.974G>C (p.Arg325Pro) | |
| 8 | g.71271834C>T | CA4779630 | EYA1 | c.890G>A (p.Arg297Gln) c.788G>A (p.Arg263Gln) c.875G>A (p.Arg292Gln) c.*169G>A (n.*169G>A) c.126G>A n.1353G>A c.*657G>A (n.*657G>A) c.977G>A (p.Arg326Gln) c.962G>A (p.Arg321Gln) c.959G>A (p.Arg320Gln) c.872G>A (p.Arg291Gln) c.791G>A (p.Arg264Gln) c.887G>A (p.Arg296Gln) c.-194G>A (n.-194G>A) n.1385G>A c.524G>A (p.Arg175Gln) c.827G>A (p.Arg276Gln) c.539G>A (p.Arg180Gln) c.974G>A (p.Arg325Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.71271835G>A | CA371469006 | EYA1 | c.889C>T (p.Arg297Ter) c.787C>T (p.Arg263Ter) c.874C>T (p.Arg292Ter) c.*168C>T (n.*168C>T) c.125C>T n.1352C>T c.*656C>T (n.*656C>T) c.976C>T (p.Arg326Ter) c.961C>T (p.Arg321Ter) c.958C>T (p.Arg320Ter) c.871C>T (p.Arg291Ter) c.790C>T (p.Arg264Ter) c.886C>T (p.Arg296Ter) c.-195C>T (n.-195C>T) n.1384C>T c.523C>T (p.Arg175Ter) c.826C>T (p.Arg276Ter) c.538C>T (p.Arg180Ter) c.973C>T (p.Arg325Ter) | ClinVar dbSNP |
| 8 | g.71271835G>C | CA371469005 | EYA1 | c.889C>G (p.Arg297Gly) c.787C>G (p.Arg263Gly) c.874C>G (p.Arg292Gly) c.*168C>G (n.*168C>G) c.125C>G n.1352C>G c.*656C>G (n.*656C>G) c.976C>G (p.Arg326Gly) c.961C>G (p.Arg321Gly) c.958C>G (p.Arg320Gly) c.871C>G (p.Arg291Gly) c.790C>G (p.Arg264Gly) c.886C>G (p.Arg296Gly) c.-195C>G (n.-195C>G) n.1384C>G c.523C>G (p.Arg175Gly) c.826C>G (p.Arg276Gly) c.538C>G (p.Arg180Gly) c.973C>G (p.Arg325Gly) | |
| 8 | g.71271835G= | CA1792716252 | EYA1 | c.889C= (p.Arg297=) c.787C= (p.Arg263=) c.874C= (p.Arg292=) c.*168C= (n.*168C=) c.125C= n.1352C= c.*656C= (n.*656C=) c.976C= (p.Arg326=) c.961C= (p.Arg321=) c.958C= (p.Arg320=) c.871C= (p.Arg291=) c.790C= (p.Arg264=) c.886C= (p.Arg296=) c.-195C= (n.-195C=) n.1384C= c.523C= (p.Arg175=) c.826C= (p.Arg276=) c.538C= (p.Arg180=) c.973C= (p.Arg325=) | |
| 8 | g.71271835G>T | CA461327450 | EYA1 | c.889C>A (p.Arg297=) c.787C>A (p.Arg263=) c.874C>A (p.Arg292=) c.*168C>A (n.*168C>A) c.125C>A n.1352C>A c.*656C>A (n.*656C>A) c.976C>A (p.Arg326=) c.961C>A (p.Arg321=) c.958C>A (p.Arg320=) c.871C>A (p.Arg291=) c.790C>A (p.Arg264=) c.886C>A (p.Arg296=) c.-195C>A (n.-195C>A) n.1384C>A c.523C>A (p.Arg175=) c.826C>A (p.Arg276=) c.538C>A (p.Arg180=) c.973C>A (p.Arg325=) | |
| 8 | g.71271836A>C | CA461327451 | EYA1 | c.888T>G (p.Arg296=) c.786T>G (p.Arg262=) c.873T>G (p.Arg291=) c.*167T>G (n.*167T>G) c.124T>G n.1351T>G c.*655T>G (n.*655T>G) c.975T>G (p.Arg325=) c.960T>G (p.Arg320=) c.957T>G (p.Arg319=) c.870T>G (p.Arg290=) c.789T>G (p.Arg263=) c.885T>G (p.Arg295=) c.-196T>G (n.-196T>G) n.1383T>G c.522T>G (p.Arg174=) c.825T>G (p.Arg275=) c.537T>G (p.Arg179=) c.972T>G (p.Arg324=) | |
| 8 | g.71271836A>G | CA461327452 | EYA1 | c.888T>C (p.Arg296=) c.786T>C (p.Arg262=) c.873T>C (p.Arg291=) c.*167T>C (n.*167T>C) c.124T>C n.1351T>C c.*655T>C (n.*655T>C) c.975T>C (p.Arg325=) c.960T>C (p.Arg320=) c.957T>C (p.Arg319=) c.870T>C (p.Arg290=) c.789T>C (p.Arg263=) c.885T>C (p.Arg295=) c.-196T>C (n.-196T>C) n.1383T>C c.522T>C (p.Arg174=) c.825T>C (p.Arg275=) c.537T>C (p.Arg179=) c.972T>C (p.Arg324=) | |
| 8 | g.71271836A>T | CA461327453 | EYA1 | c.888T>A (p.Arg296=) c.786T>A (p.Arg262=) c.873T>A (p.Arg291=) c.*167T>A (n.*167T>A) c.124T>A n.1351T>A c.*655T>A (n.*655T>A) c.975T>A (p.Arg325=) c.960T>A (p.Arg320=) c.957T>A (p.Arg319=) c.870T>A (p.Arg290=) c.789T>A (p.Arg263=) c.885T>A (p.Arg295=) c.-196T>A (n.-196T>A) n.1383T>A c.522T>A (p.Arg174=) c.825T>A (p.Arg275=) c.537T>A (p.Arg179=) c.972T>A (p.Arg324=) | |
| 8 | g.71271837C>A | CA371469009 | EYA1 | c.887G>T (p.Arg296Leu) c.785G>T (p.Arg262Leu) c.872G>T (p.Arg291Leu) c.*166G>T (n.*166G>T) c.123G>T n.1350G>T c.*654G>T (n.*654G>T) c.974G>T (p.Arg325Leu) c.959G>T (p.Arg320Leu) c.956G>T (p.Arg319Leu) c.869G>T (p.Arg290Leu) c.788G>T (p.Arg263Leu) c.884G>T (p.Arg295Leu) c.-197G>T (n.-197G>T) n.1382G>T c.521G>T (p.Arg174Leu) c.824G>T (p.Arg275Leu) c.536G>T (p.Arg179Leu) c.971G>T (p.Arg324Leu) | |
| 8 | g.71271837C= | CA1792716253 | EYA1 | c.887G= (p.Arg296=) c.785G= (p.Arg262=) c.872G= (p.Arg291=) c.*166G= (n.*166G=) c.123G= n.1350G= c.*654G= (n.*654G=) c.974G= (p.Arg325=) c.959G= (p.Arg320=) c.956G= (p.Arg319=) c.869G= (p.Arg290=) c.788G= (p.Arg263=) c.884G= (p.Arg295=) c.-197G= (n.-197G=) n.1382G= c.521G= (p.Arg174=) c.824G= (p.Arg275=) c.536G= (p.Arg179=) c.971G= (p.Arg324=) | |
| 8 | g.71271837C>G | CA371469011 | EYA1 | c.887G>C (p.Arg296Pro) c.785G>C (p.Arg262Pro) c.872G>C (p.Arg291Pro) c.*166G>C (n.*166G>C) c.123G>C n.1350G>C c.*654G>C (n.*654G>C) c.974G>C (p.Arg325Pro) c.959G>C (p.Arg320Pro) c.956G>C (p.Arg319Pro) c.869G>C (p.Arg290Pro) c.788G>C (p.Arg263Pro) c.884G>C (p.Arg295Pro) c.-197G>C (n.-197G>C) n.1382G>C c.521G>C (p.Arg174Pro) c.824G>C (p.Arg275Pro) c.536G>C (p.Arg179Pro) c.971G>C (p.Arg324Pro) | |
| 8 | g.71271837C>T | CA4779631 | EYA1 | c.887G>A (p.Arg296His) c.785G>A (p.Arg262His) c.872G>A (p.Arg291His) c.*166G>A (n.*166G>A) c.123G>A n.1350G>A c.*654G>A (n.*654G>A) c.974G>A (p.Arg325His) c.959G>A (p.Arg320His) c.956G>A (p.Arg319His) c.869G>A (p.Arg290His) c.788G>A (p.Arg263His) c.884G>A (p.Arg295His) c.-197G>A (n.-197G>A) n.1382G>A c.521G>A (p.Arg174His) c.824G>A (p.Arg275His) c.536G>A (p.Arg179His) c.971G>A (p.Arg324His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.71271838G>A | CA4779632 | EYA1 | c.886C>T (p.Arg296Cys) c.784C>T (p.Arg262Cys) c.871C>T (p.Arg291Cys) c.*165C>T (n.*165C>T) c.122C>T n.1349C>T c.*653C>T (n.*653C>T) c.973C>T (p.Arg325Cys) c.958C>T (p.Arg320Cys) c.955C>T (p.Arg319Cys) c.868C>T (p.Arg290Cys) c.787C>T (p.Arg263Cys) c.883C>T (p.Arg295Cys) c.-198C>T (n.-198C>T) n.1381C>T c.520C>T (p.Arg174Cys) c.823C>T (p.Arg275Cys) c.535C>T (p.Arg179Cys) c.970C>T (p.Arg324Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.71271838G>C | CA371469014 | EYA1 | c.886C>G (p.Arg296Gly) c.784C>G (p.Arg262Gly) c.871C>G (p.Arg291Gly) c.*165C>G (n.*165C>G) c.122C>G n.1349C>G c.*653C>G (n.*653C>G) c.973C>G (p.Arg325Gly) c.958C>G (p.Arg320Gly) c.955C>G (p.Arg319Gly) c.868C>G (p.Arg290Gly) c.787C>G (p.Arg263Gly) c.883C>G (p.Arg295Gly) c.-198C>G (n.-198C>G) n.1381C>G c.520C>G (p.Arg174Gly) c.823C>G (p.Arg275Gly) c.535C>G (p.Arg179Gly) c.970C>G (p.Arg324Gly) | |
| 8 | g.71271838G= | CA1792716254 | EYA1 | c.886C= (p.Arg296=) c.784C= (p.Arg262=) c.871C= (p.Arg291=) c.*165C= (n.*165C=) c.122C= n.1349C= c.*653C= (n.*653C=) c.973C= (p.Arg325=) c.958C= (p.Arg320=) c.955C= (p.Arg319=) c.868C= (p.Arg290=) c.787C= (p.Arg263=) c.883C= (p.Arg295=) c.-198C= (n.-198C=) n.1381C= c.520C= (p.Arg174=) c.823C= (p.Arg275=) c.535C= (p.Arg179=) c.970C= (p.Arg324=) | |
| 8 | g.71271838G>T | CA371469016 | EYA1 | c.886C>A (p.Arg296Ser) c.784C>A (p.Arg262Ser) c.871C>A (p.Arg291Ser) c.*165C>A (n.*165C>A) c.122C>A n.1349C>A c.*653C>A (n.*653C>A) c.973C>A (p.Arg325Ser) c.958C>A (p.Arg320Ser) c.955C>A (p.Arg319Ser) c.868C>A (p.Arg290Ser) c.787C>A (p.Arg263Ser) c.883C>A (p.Arg295Ser) c.-198C>A (n.-198C>A) n.1381C>A c.520C>A (p.Arg174Ser) c.823C>A (p.Arg275Ser) c.535C>A (p.Arg179Ser) c.970C>A (p.Arg324Ser) | gnomAD v4 |
| 8 | g.71271839C>A | CA371469019 | EYA1 | c.885G>T (p.Leu295Phe) c.783G>T (p.Leu261Phe) c.870G>T (p.Leu290Phe) c.*164G>T (n.*164G>T) c.121G>T n.1348G>T c.*652G>T (n.*652G>T) c.972G>T (p.Leu324Phe) c.957G>T (p.Leu319Phe) c.954G>T (p.Leu318Phe) c.867G>T (p.Leu289Phe) c.786G>T (p.Leu262Phe) c.882G>T (p.Leu294Phe) c.-199G>T (n.-199G>T) n.1380G>T c.519G>T (p.Leu173Phe) c.822G>T (p.Leu274Phe) c.534G>T (p.Leu178Phe) c.969G>T (p.Leu323Phe) | |
| 8 | g.71271839C>G | CA371469020 | EYA1 | c.885G>C (p.Leu295Phe) c.783G>C (p.Leu261Phe) c.870G>C (p.Leu290Phe) c.*164G>C (n.*164G>C) c.121G>C n.1348G>C c.*652G>C (n.*652G>C) c.972G>C (p.Leu324Phe) c.957G>C (p.Leu319Phe) c.954G>C (p.Leu318Phe) c.867G>C (p.Leu289Phe) c.786G>C (p.Leu262Phe) c.882G>C (p.Leu294Phe) c.-199G>C (n.-199G>C) n.1380G>C c.519G>C (p.Leu173Phe) c.822G>C (p.Leu274Phe) c.534G>C (p.Leu178Phe) c.969G>C (p.Leu323Phe) | |
| 8 | g.71271839C>T | CA461327454 | EYA1 | c.885G>A (p.Leu295=) c.783G>A (p.Leu261=) c.870G>A (p.Leu290=) c.*164G>A (n.*164G>A) c.121G>A n.1348G>A c.*652G>A (n.*652G>A) c.972G>A (p.Leu324=) c.957G>A (p.Leu319=) c.954G>A (p.Leu318=) c.867G>A (p.Leu289=) c.786G>A (p.Leu262=) c.882G>A (p.Leu294=) c.-199G>A (n.-199G>A) n.1380G>A c.519G>A (p.Leu173=) c.822G>A (p.Leu274=) c.534G>A (p.Leu178=) c.969G>A (p.Leu323=) | |
| 8 | g.71271840A= | CA1792716255 | EYA1 | c.884T= (p.Leu295=) c.782T= (p.Leu261=) c.869T= (p.Leu290=) c.*163T= (n.*163T=) c.120T= n.1347T= c.*651T= (n.*651T=) c.971T= (p.Leu324=) c.956T= (p.Leu319=) c.953T= (p.Leu318=) c.866T= (p.Leu289=) c.785T= (p.Leu262=) c.881T= (p.Leu294=) c.-200T= (n.-200T=) n.1379T= c.518T= (p.Leu173=) c.821T= (p.Leu274=) c.533T= (p.Leu178=) c.968T= (p.Leu323=) | |
| 8 | g.71271840A>C | CA371469022 | EYA1 | c.884T>G (p.Leu295Trp) c.782T>G (p.Leu261Trp) c.869T>G (p.Leu290Trp) c.*163T>G (n.*163T>G) c.120T>G n.1347T>G c.*651T>G (n.*651T>G) c.971T>G (p.Leu324Trp) c.956T>G (p.Leu319Trp) c.953T>G (p.Leu318Trp) c.866T>G (p.Leu289Trp) c.785T>G (p.Leu262Trp) c.881T>G (p.Leu294Trp) c.-200T>G (n.-200T>G) n.1379T>G c.518T>G (p.Leu173Trp) c.821T>G (p.Leu274Trp) c.533T>G (p.Leu178Trp) c.968T>G (p.Leu323Trp) | COSMIC COSMIC |
| 8 | g.71271840A>G | CA4779633 | EYA1 | c.884T>C (p.Leu295Ser) c.782T>C (p.Leu261Ser) c.869T>C (p.Leu290Ser) c.*163T>C (n.*163T>C) c.120T>C n.1347T>C c.*651T>C (n.*651T>C) c.971T>C (p.Leu324Ser) c.956T>C (p.Leu319Ser) c.953T>C (p.Leu318Ser) c.866T>C (p.Leu289Ser) c.785T>C (p.Leu262Ser) c.881T>C (p.Leu294Ser) c.-200T>C (n.-200T>C) n.1379T>C c.518T>C (p.Leu173Ser) c.821T>C (p.Leu274Ser) c.533T>C (p.Leu178Ser) c.968T>C (p.Leu323Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.71271840A>T | CA371469025 | EYA1 | c.884T>A (p.Leu295Ter) c.782T>A (p.Leu261Ter) c.869T>A (p.Leu290Ter) c.*163T>A (n.*163T>A) c.120T>A n.1347T>A c.*651T>A (n.*651T>A) c.971T>A (p.Leu324Ter) c.956T>A (p.Leu319Ter) c.953T>A (p.Leu318Ter) c.866T>A (p.Leu289Ter) c.785T>A (p.Leu262Ter) c.881T>A (p.Leu294Ter) c.-200T>A (n.-200T>A) n.1379T>A c.518T>A (p.Leu173Ter) c.821T>A (p.Leu274Ter) c.533T>A (p.Leu178Ter) c.968T>A (p.Leu323Ter) | |
| 8 | g.71271841A= | CA1792716256 | EYA1 | c.883T= (p.Leu295=) c.781T= (p.Leu261=) c.868T= (p.Leu290=) c.*162T= (n.*162T=) c.119T= n.1346T= c.*650T= (n.*650T=) c.970T= (p.Leu324=) c.955T= (p.Leu319=) c.952T= (p.Leu318=) c.865T= (p.Leu289=) c.784T= (p.Leu262=) c.880T= (p.Leu294=) c.-201T= (n.-201T=) n.1378T= c.517T= (p.Leu173=) c.820T= (p.Leu274=) c.532T= (p.Leu178=) c.967T= (p.Leu323=) | |
| 8 | g.71271841A>C | CA371469027 | EYA1 | c.883T>G (p.Leu295Val) c.781T>G (p.Leu261Val) c.868T>G (p.Leu290Val) c.*162T>G (n.*162T>G) c.119T>G n.1346T>G c.*650T>G (n.*650T>G) c.970T>G (p.Leu324Val) c.955T>G (p.Leu319Val) c.952T>G (p.Leu318Val) c.865T>G (p.Leu289Val) c.784T>G (p.Leu262Val) c.880T>G (p.Leu294Val) c.-201T>G (n.-201T>G) n.1378T>G c.517T>G (p.Leu173Val) c.820T>G (p.Leu274Val) c.532T>G (p.Leu178Val) c.967T>G (p.Leu323Val) | |
| 8 | g.71271841A>G | CA461327455 | EYA1 | c.883T>C (p.Leu295=) c.781T>C (p.Leu261=) c.868T>C (p.Leu290=) c.*162T>C (n.*162T>C) c.119T>C n.1346T>C c.*650T>C (n.*650T>C) c.970T>C (p.Leu324=) c.955T>C (p.Leu319=) c.952T>C (p.Leu318=) c.865T>C (p.Leu289=) c.784T>C (p.Leu262=) c.880T>C (p.Leu294=) c.-201T>C (n.-201T>C) n.1378T>C c.517T>C (p.Leu173=) c.820T>C (p.Leu274=) c.532T>C (p.Leu178=) c.967T>C (p.Leu323=) | |
| 8 | g.71271841A>T | CA371469029 | EYA1 | c.883T>A (p.Leu295Met) c.781T>A (p.Leu261Met) c.868T>A (p.Leu290Met) c.*162T>A (n.*162T>A) c.119T>A n.1346T>A c.*650T>A (n.*650T>A) c.970T>A (p.Leu324Met) c.955T>A (p.Leu319Met) c.952T>A (p.Leu318Met) c.865T>A (p.Leu289Met) c.784T>A (p.Leu262Met) c.880T>A (p.Leu294Met) c.-201T>A (n.-201T>A) n.1378T>A c.517T>A (p.Leu173Met) c.820T>A (p.Leu274Met) c.532T>A (p.Leu178Met) c.967T>A (p.Leu323Met) | dbSNP gnomAD v4 |
| 8 | g.71271842del | CA2695209830 | EYA1 | c.882del (p.Leu295CysfsTer?) c.780del (p.Leu261CysfsTer?) c.867del (p.Leu290CysfsTer?) c.*161del (n.*161del) c.118del n.1345del c.*649del (n.*649del) c.969del (p.Leu324CysfsTer?) c.954del (p.Leu319CysfsTer?) c.951del (p.Leu318CysfsTer?) c.864del (p.Leu289CysfsTer?) c.783del (p.Leu262CysfsTer?) c.879del (p.Leu294CysfsTer?) c.-202del (n.-202del) n.1377del c.516del (p.Leu173CysfsTer?) c.819del (p.Leu274CysfsTer?) c.531del (p.Leu178CysfsTer?) c.966del (p.Leu323CysfsTer?) | |
| 8 | g.71271842T>A | CA461327458 | EYA1 | c.882A>T (p.Arg294=) c.780A>T (p.Arg260=) c.867A>T (p.Arg289=) c.*161A>T (n.*161A>T) c.118A>T n.1345A>T c.*649A>T (n.*649A>T) c.969A>T (p.Arg323=) c.954A>T (p.Arg318=) c.951A>T (p.Arg317=) c.864A>T (p.Arg288=) c.783A>T (p.Arg261=) c.879A>T (p.Arg293=) c.-202A>T (n.-202A>T) n.1377A>T c.516A>T (p.Arg172=) c.819A>T (p.Arg273=) c.531A>T (p.Arg177=) c.966A>T (p.Arg322=) | |
| 8 | g.71271842T>C | CA461327456 | EYA1 | c.882A>G (p.Arg294=) c.780A>G (p.Arg260=) c.867A>G (p.Arg289=) c.*161A>G (n.*161A>G) c.118A>G n.1345A>G c.*649A>G (n.*649A>G) c.969A>G (p.Arg323=) c.954A>G (p.Arg318=) c.951A>G (p.Arg317=) c.864A>G (p.Arg288=) c.783A>G (p.Arg261=) c.879A>G (p.Arg293=) c.-202A>G (n.-202A>G) n.1377A>G c.516A>G (p.Arg172=) c.819A>G (p.Arg273=) c.531A>G (p.Arg177=) c.966A>G (p.Arg322=) | |
| 8 | g.71271842T>G | CA461327457 | EYA1 | c.882A>C (p.Arg294=) c.780A>C (p.Arg260=) c.867A>C (p.Arg289=) c.*161A>C (n.*161A>C) c.118A>C n.1345A>C c.*649A>C (n.*649A>C) c.969A>C (p.Arg323=) c.954A>C (p.Arg318=) c.951A>C (p.Arg317=) c.864A>C (p.Arg288=) c.783A>C (p.Arg261=) c.879A>C (p.Arg293=) c.-202A>C (n.-202A>C) n.1377A>C c.516A>C (p.Arg172=) c.819A>C (p.Arg273=) c.531A>C (p.Arg177=) c.966A>C (p.Arg322=) | |
| 8 | g.71271843C>A | CA371469032 | EYA1 | c.881G>T (p.Arg294Leu) c.779G>T (p.Arg260Leu) c.866G>T (p.Arg289Leu) c.*160G>T (n.*160G>T) c.117G>T n.1344G>T c.*648G>T (n.*648G>T) c.968G>T (p.Arg323Leu) c.953G>T (p.Arg318Leu) c.950G>T (p.Arg317Leu) c.863G>T (p.Arg288Leu) c.782G>T (p.Arg261Leu) c.878G>T (p.Arg293Leu) c.-203G>T (n.-203G>T) n.1376G>T c.515G>T (p.Arg172Leu) c.818G>T (p.Arg273Leu) c.530G>T (p.Arg177Leu) c.965G>T (p.Arg322Leu) | dbSNP |
| 8 | g.71271843C= | CA1792716257 | EYA1 | c.881G= (p.Arg294=) c.779G= (p.Arg260=) c.866G= (p.Arg289=) c.*160G= (n.*160G=) c.117G= n.1344G= c.*648G= (n.*648G=) c.968G= (p.Arg323=) c.953G= (p.Arg318=) c.950G= (p.Arg317=) c.863G= (p.Arg288=) c.782G= (p.Arg261=) c.878G= (p.Arg293=) c.-203G= (n.-203G=) n.1376G= c.515G= (p.Arg172=) c.818G= (p.Arg273=) c.530G= (p.Arg177=) c.965G= (p.Arg322=) | |
| 8 | g.71271843C>G | CA371469034 | EYA1 | c.881G>C (p.Arg294Pro) c.779G>C (p.Arg260Pro) c.866G>C (p.Arg289Pro) c.*160G>C (n.*160G>C) c.117G>C n.1344G>C c.*648G>C (n.*648G>C) c.968G>C (p.Arg323Pro) c.953G>C (p.Arg318Pro) c.950G>C (p.Arg317Pro) c.863G>C (p.Arg288Pro) c.782G>C (p.Arg261Pro) c.878G>C (p.Arg293Pro) c.-203G>C (n.-203G>C) n.1376G>C c.515G>C (p.Arg172Pro) c.818G>C (p.Arg273Pro) c.530G>C (p.Arg177Pro) c.965G>C (p.Arg322Pro) | |
| 8 | g.71271843C>T | CA4779634 | EYA1 | c.881G>A (p.Arg294Gln) c.779G>A (p.Arg260Gln) c.866G>A (p.Arg289Gln) c.*160G>A (n.*160G>A) c.117G>A n.1344G>A c.*648G>A (n.*648G>A) c.968G>A (p.Arg323Gln) c.953G>A (p.Arg318Gln) c.950G>A (p.Arg317Gln) c.863G>A (p.Arg288Gln) c.782G>A (p.Arg261Gln) c.878G>A (p.Arg293Gln) c.-203G>A (n.-203G>A) n.1376G>A c.515G>A (p.Arg172Gln) c.818G>A (p.Arg273Gln) c.530G>A (p.Arg177Gln) c.965G>A (p.Arg322Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.71271844G>A | CA371469035 | EYA1 | c.880C>T (p.Arg294Ter) c.778C>T (p.Arg260Ter) c.865C>T (p.Arg289Ter) c.*159C>T (n.*159C>T) c.116C>T n.1343C>T c.*647C>T (n.*647C>T) c.967C>T (p.Arg323Ter) c.952C>T (p.Arg318Ter) c.949C>T (p.Arg317Ter) c.862C>T (p.Arg288Ter) c.781C>T (p.Arg261Ter) c.877C>T (p.Arg293Ter) c.-204C>T (n.-204C>T) n.1375C>T c.514C>T (p.Arg172Ter) c.817C>T (p.Arg273Ter) c.529C>T (p.Arg177Ter) c.964C>T (p.Arg322Ter) | ClinVar dbSNP gnomAD v4 |
| 8 | g.71271844G>C | CA371469038 | EYA1 | c.880C>G (p.Arg294Gly) c.778C>G (p.Arg260Gly) c.865C>G (p.Arg289Gly) c.*159C>G (n.*159C>G) c.116C>G n.1343C>G c.*647C>G (n.*647C>G) c.967C>G (p.Arg323Gly) c.952C>G (p.Arg318Gly) c.949C>G (p.Arg317Gly) c.862C>G (p.Arg288Gly) c.781C>G (p.Arg261Gly) c.877C>G (p.Arg293Gly) c.-204C>G (n.-204C>G) n.1375C>G c.514C>G (p.Arg172Gly) c.817C>G (p.Arg273Gly) c.529C>G (p.Arg177Gly) c.964C>G (p.Arg322Gly) | dbSNP |
| 8 | g.71271844G= | CA1792716258 | EYA1 | c.880C= (p.Arg294=) c.778C= (p.Arg260=) c.865C= (p.Arg289=) c.*159C= (n.*159C=) c.116C= n.1343C= c.*647C= (n.*647C=) c.967C= (p.Arg323=) c.952C= (p.Arg318=) c.949C= (p.Arg317=) c.862C= (p.Arg288=) c.781C= (p.Arg261=) c.877C= (p.Arg293=) c.-204C= (n.-204C=) n.1375C= c.514C= (p.Arg172=) c.817C= (p.Arg273=) c.529C= (p.Arg177=) c.964C= (p.Arg322=) | |
| 8 | g.71271844G>T | CA461327459 | EYA1 | c.880C>A (p.Arg294=) c.778C>A (p.Arg260=) c.865C>A (p.Arg289=) c.*159C>A (n.*159C>A) c.116C>A n.1343C>A c.*647C>A (n.*647C>A) c.967C>A (p.Arg323=) c.952C>A (p.Arg318=) c.949C>A (p.Arg317=) c.862C>A (p.Arg288=) c.781C>A (p.Arg261=) c.877C>A (p.Arg293=) c.-204C>A (n.-204C>A) n.1375C>A c.514C>A (p.Arg172=) c.817C>A (p.Arg273=) c.529C>A (p.Arg177=) c.964C>A (p.Arg322=) | gnomAD v4 |
| 8 | g.71271845A>C | CA371469040 | EYA1 | c.879T>G (p.Asp293Glu) c.777T>G (p.Asp259Glu) c.864T>G (p.Asp288Glu) c.*158T>G (n.*158T>G) c.115T>G n.1342T>G c.*646T>G (n.*646T>G) c.966T>G (p.Asp322Glu) c.951T>G (p.Asp317Glu) c.948T>G (p.Asp316Glu) c.861T>G (p.Asp287Glu) c.780T>G (p.Asp260Glu) c.876T>G (p.Asp292Glu) c.-205T>G (n.-205T>G) n.1374T>G c.513T>G (p.Asp171Glu) c.816T>G (p.Asp272Glu) c.528T>G (p.Asp176Glu) c.963T>G (p.Asp321Glu) | |
| 8 | g.71271845A>G | CA461327460 | EYA1 | c.879T>C (p.Asp293=) c.777T>C (p.Asp259=) c.864T>C (p.Asp288=) c.*158T>C (n.*158T>C) c.115T>C n.1342T>C c.*646T>C (n.*646T>C) c.966T>C (p.Asp322=) c.951T>C (p.Asp317=) c.948T>C (p.Asp316=) c.861T>C (p.Asp287=) c.780T>C (p.Asp260=) c.876T>C (p.Asp292=) c.-205T>C (n.-205T>C) n.1374T>C c.513T>C (p.Asp171=) c.816T>C (p.Asp272=) c.528T>C (p.Asp176=) c.963T>C (p.Asp321=) | |
| 8 | g.71271845A>T | CA371469041 | EYA1 | c.879T>A (p.Asp293Glu) c.777T>A (p.Asp259Glu) c.864T>A (p.Asp288Glu) c.*158T>A (n.*158T>A) c.115T>A n.1342T>A c.*646T>A (n.*646T>A) c.966T>A (p.Asp322Glu) c.951T>A (p.Asp317Glu) c.948T>A (p.Asp316Glu) c.861T>A (p.Asp287Glu) c.780T>A (p.Asp260Glu) c.876T>A (p.Asp292Glu) c.-205T>A (n.-205T>A) n.1374T>A c.513T>A (p.Asp171Glu) c.816T>A (p.Asp272Glu) c.528T>A (p.Asp176Glu) c.963T>A (p.Asp321Glu) | |
| 8 | g.71271846T>A | CA371469048 | EYA1 | c.878A>T (p.Asp293Val) c.776A>T (p.Asp259Val) c.863A>T (p.Asp288Val) c.*157A>T (n.*157A>T) c.114A>T n.1341A>T c.*645A>T (n.*645A>T) c.965A>T (p.Asp322Val) c.950A>T (p.Asp317Val) c.947A>T (p.Asp316Val) c.860A>T (p.Asp287Val) c.779A>T (p.Asp260Val) c.875A>T (p.Asp292Val) c.-206A>T (n.-206A>T) n.1373A>T c.512A>T (p.Asp171Val) c.815A>T (p.Asp272Val) c.527A>T (p.Asp176Val) c.962A>T (p.Asp321Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.71271846T>C | CA371469046 | EYA1 | c.878A>G (p.Asp293Gly) c.776A>G (p.Asp259Gly) c.863A>G (p.Asp288Gly) c.*157A>G (n.*157A>G) c.114A>G n.1341A>G c.*645A>G (n.*645A>G) c.965A>G (p.Asp322Gly) c.950A>G (p.Asp317Gly) c.947A>G (p.Asp316Gly) c.860A>G (p.Asp287Gly) c.779A>G (p.Asp260Gly) c.875A>G (p.Asp292Gly) c.-206A>G (n.-206A>G) n.1373A>G c.512A>G (p.Asp171Gly) c.815A>G (p.Asp272Gly) c.527A>G (p.Asp176Gly) c.962A>G (p.Asp321Gly) | gnomAD v4 |
| 8 | g.71271846T>G | CA371469044 | EYA1 | c.878A>C (p.Asp293Ala) c.776A>C (p.Asp259Ala) c.863A>C (p.Asp288Ala) c.*157A>C (n.*157A>C) c.114A>C n.1341A>C c.*645A>C (n.*645A>C) c.965A>C (p.Asp322Ala) c.950A>C (p.Asp317Ala) c.947A>C (p.Asp316Ala) c.860A>C (p.Asp287Ala) c.779A>C (p.Asp260Ala) c.875A>C (p.Asp292Ala) c.-206A>C (n.-206A>C) n.1373A>C c.512A>C (p.Asp171Ala) c.815A>C (p.Asp272Ala) c.527A>C (p.Asp176Ala) c.962A>C (p.Asp321Ala) | |
| 8 | g.71271846T= | CA1792716259 | EYA1 | c.878A= (p.Asp293=) c.776A= (p.Asp259=) c.863A= (p.Asp288=) c.*157A= (n.*157A=) c.114A= n.1341A= c.*645A= (n.*645A=) c.965A= (p.Asp322=) c.950A= (p.Asp317=) c.947A= (p.Asp316=) c.860A= (p.Asp287=) c.779A= (p.Asp260=) c.875A= (p.Asp292=) c.-206A= (n.-206A=) n.1373A= c.512A= (p.Asp171=) c.815A= (p.Asp272=) c.527A= (p.Asp176=) c.962A= (p.Asp321=) | |
| 8 | g.71271847C>A | CA371469050 | EYA1 | c.877G>T (p.Asp293Tyr) c.775G>T (p.Asp259Tyr) c.862G>T (p.Asp288Tyr) c.*156G>T (n.*156G>T) c.113G>T n.1340G>T c.*644G>T (n.*644G>T) c.964G>T (p.Asp322Tyr) c.949G>T (p.Asp317Tyr) c.946G>T (p.Asp316Tyr) c.859G>T (p.Asp287Tyr) c.778G>T (p.Asp260Tyr) c.874G>T (p.Asp292Tyr) c.-207G>T (n.-207G>T) n.1372G>T c.511G>T (p.Asp171Tyr) c.814G>T (p.Asp272Tyr) c.526G>T (p.Asp176Tyr) c.961G>T (p.Asp321Tyr) | |
| 8 | g.71271847C>G | CA371469051 | EYA1 | c.877G>C (p.Asp293His) c.775G>C (p.Asp259His) c.862G>C (p.Asp288His) c.*156G>C (n.*156G>C) c.113G>C n.1340G>C c.*644G>C (n.*644G>C) c.964G>C (p.Asp322His) c.949G>C (p.Asp317His) c.946G>C (p.Asp316His) c.859G>C (p.Asp287His) c.778G>C (p.Asp260His) c.874G>C (p.Asp292His) c.-207G>C (n.-207G>C) n.1372G>C c.511G>C (p.Asp171His) c.814G>C (p.Asp272His) c.526G>C (p.Asp176His) c.961G>C (p.Asp321His) | |
| 8 | g.71271847C>T | CA371469053 | EYA1 | c.877G>A (p.Asp293Asn) c.775G>A (p.Asp259Asn) c.862G>A (p.Asp288Asn) c.*156G>A (n.*156G>A) c.113G>A n.1340G>A c.*644G>A (n.*644G>A) c.964G>A (p.Asp322Asn) c.949G>A (p.Asp317Asn) c.946G>A (p.Asp316Asn) c.859G>A (p.Asp287Asn) c.778G>A (p.Asp260Asn) c.874G>A (p.Asp292Asn) c.-207G>A (n.-207G>A) n.1372G>A c.511G>A (p.Asp171Asn) c.814G>A (p.Asp272Asn) c.526G>A (p.Asp176Asn) c.961G>A (p.Asp321Asn) | gnomAD v4 |
| 8 | g.71271848A>C | CA461327461 | EYA1 | c.876T>G (p.Ser292=) c.774T>G (p.Ser258=) c.861T>G (p.Ser287=) c.*155T>G (n.*155T>G) c.112T>G n.1339T>G c.*643T>G (n.*643T>G) c.963T>G (p.Ser321=) c.948T>G (p.Ser316=) c.945T>G (p.Ser315=) c.858T>G (p.Ser286=) c.777T>G (p.Ser259=) c.873T>G (p.Ser291=) c.-208T>G (n.-208T>G) n.1371T>G c.510T>G (p.Ser170=) c.813T>G (p.Ser271=) c.525T>G (p.Ser175=) c.960T>G (p.Ser320=) | |
| 8 | g.71271848A>G | CA461327462 | EYA1 | c.876T>C (p.Ser292=) c.774T>C (p.Ser258=) c.861T>C (p.Ser287=) c.*155T>C (n.*155T>C) c.112T>C n.1339T>C c.*643T>C (n.*643T>C) c.963T>C (p.Ser321=) c.948T>C (p.Ser316=) c.945T>C (p.Ser315=) c.858T>C (p.Ser286=) c.777T>C (p.Ser259=) c.873T>C (p.Ser291=) c.-208T>C (n.-208T>C) n.1371T>C c.510T>C (p.Ser170=) c.813T>C (p.Ser271=) c.525T>C (p.Ser175=) c.960T>C (p.Ser320=) | |
| 8 | g.71271848A>T | CA461327463 | EYA1 | c.876T>A (p.Ser292=) c.774T>A (p.Ser258=) c.861T>A (p.Ser287=) c.*155T>A (n.*155T>A) c.112T>A n.1339T>A c.*643T>A (n.*643T>A) c.963T>A (p.Ser321=) c.948T>A (p.Ser316=) c.945T>A (p.Ser315=) c.858T>A (p.Ser286=) c.777T>A (p.Ser259=) c.873T>A (p.Ser291=) c.-208T>A (n.-208T>A) n.1371T>A c.510T>A (p.Ser170=) c.813T>A (p.Ser271=) c.525T>A (p.Ser175=) c.960T>A (p.Ser320=) | |
| 8 | g.71271849G>A | CA371469055 | EYA1 | c.875C>T (p.Ser292Phe) c.773C>T (p.Ser258Phe) c.860C>T (p.Ser287Phe) c.*154C>T (n.*154C>T) c.111C>T n.1338C>T c.*642C>T (n.*642C>T) c.962C>T (p.Ser321Phe) c.947C>T (p.Ser316Phe) c.944C>T (p.Ser315Phe) c.857C>T (p.Ser286Phe) c.776C>T (p.Ser259Phe) c.872C>T (p.Ser291Phe) c.-209C>T (n.-209C>T) n.1370C>T c.509C>T (p.Ser170Phe) c.812C>T (p.Ser271Phe) c.524C>T (p.Ser175Phe) c.959C>T (p.Ser320Phe) | |
| 8 | g.71271849G>C | CA371469057 | EYA1 | c.875C>G (p.Ser292Cys) c.773C>G (p.Ser258Cys) c.860C>G (p.Ser287Cys) c.*154C>G (n.*154C>G) c.111C>G n.1338C>G c.*642C>G (n.*642C>G) c.962C>G (p.Ser321Cys) c.947C>G (p.Ser316Cys) c.944C>G (p.Ser315Cys) c.857C>G (p.Ser286Cys) c.776C>G (p.Ser259Cys) c.872C>G (p.Ser291Cys) c.-209C>G (n.-209C>G) n.1370C>G c.509C>G (p.Ser170Cys) c.812C>G (p.Ser271Cys) c.524C>G (p.Ser175Cys) c.959C>G (p.Ser320Cys) | |
| 8 | g.71271849G>T | CA371469058 | EYA1 | c.875C>A (p.Ser292Tyr) c.773C>A (p.Ser258Tyr) c.860C>A (p.Ser287Tyr) c.*154C>A (n.*154C>A) c.111C>A n.1338C>A c.*642C>A (n.*642C>A) c.962C>A (p.Ser321Tyr) c.947C>A (p.Ser316Tyr) c.944C>A (p.Ser315Tyr) c.857C>A (p.Ser286Tyr) c.776C>A (p.Ser259Tyr) c.872C>A (p.Ser291Tyr) c.-209C>A (n.-209C>A) n.1370C>A c.509C>A (p.Ser170Tyr) c.812C>A (p.Ser271Tyr) c.524C>A (p.Ser175Tyr) c.959C>A (p.Ser320Tyr) | |
| 8 | g.71271849dup | CA2695209831 | EYA1 | c.875dup (p.Asp293Ter) c.773dup (p.Asp259Ter) c.860dup (p.Asp288Ter) c.*154dup (n.*154dup) c.111dup n.1338dup c.*642dup (n.*642dup) c.962dup (p.Asp322Ter) c.947dup (p.Asp317Ter) c.944dup (p.Asp316Ter) c.857dup (p.Asp287Ter) c.776dup (p.Asp260Ter) c.872dup (p.Asp292Ter) c.-209dup (n.-209dup) n.1370dup c.509dup (p.Asp171Ter) c.812dup (p.Asp272Ter) c.524dup (p.Asp176Ter) c.959dup (p.Asp321Ter) | |
| 8 | g.71271850A>C | CA371469064 | EYA1 | c.874T>G (p.Ser292Ala) c.772T>G (p.Ser258Ala) c.859T>G (p.Ser287Ala) c.*153T>G (n.*153T>G) c.110T>G n.1337T>G c.*641T>G (n.*641T>G) c.961T>G (p.Ser321Ala) c.946T>G (p.Ser316Ala) c.943T>G (p.Ser315Ala) c.856T>G (p.Ser286Ala) c.775T>G (p.Ser259Ala) c.871T>G (p.Ser291Ala) c.-210T>G (n.-210T>G) n.1369T>G c.508T>G (p.Ser170Ala) c.811T>G (p.Ser271Ala) c.523T>G (p.Ser175Ala) c.958T>G (p.Ser320Ala) | |
| 8 | g.71271850A>G | CA371469063 | EYA1 | c.874T>C (p.Ser292Pro) c.772T>C (p.Ser258Pro) c.859T>C (p.Ser287Pro) c.*153T>C (n.*153T>C) c.110T>C n.1337T>C c.*641T>C (n.*641T>C) c.961T>C (p.Ser321Pro) c.946T>C (p.Ser316Pro) c.943T>C (p.Ser315Pro) c.856T>C (p.Ser286Pro) c.775T>C (p.Ser259Pro) c.871T>C (p.Ser291Pro) c.-210T>C (n.-210T>C) n.1369T>C c.508T>C (p.Ser170Pro) c.811T>C (p.Ser271Pro) c.523T>C (p.Ser175Pro) c.958T>C (p.Ser320Pro) | |
| 8 | g.71271850A>T | CA371469061 | EYA1 | c.874T>A (p.Ser292Thr) c.772T>A (p.Ser258Thr) c.859T>A (p.Ser287Thr) c.*153T>A (n.*153T>A) c.110T>A n.1337T>A c.*641T>A (n.*641T>A) c.961T>A (p.Ser321Thr) c.946T>A (p.Ser316Thr) c.943T>A (p.Ser315Thr) c.856T>A (p.Ser286Thr) c.775T>A (p.Ser259Thr) c.871T>A (p.Ser291Thr) c.-210T>A (n.-210T>A) n.1369T>A c.508T>A (p.Ser170Thr) c.811T>A (p.Ser271Thr) c.523T>A (p.Ser175Thr) c.958T>A (p.Ser320Thr) | |
| 8 | g.71271851A>C | CA371469066 | EYA1 | c.873T>G (p.Asp291Glu) c.771T>G (p.Asp257Glu) c.858T>G (p.Asp286Glu) c.*152T>G (n.*152T>G) c.109T>G n.1336T>G c.*640T>G (n.*640T>G) c.960T>G (p.Asp320Glu) c.945T>G (p.Asp315Glu) c.942T>G (p.Asp314Glu) c.855T>G (p.Asp285Glu) c.774T>G (p.Asp258Glu) c.870T>G (p.Asp290Glu) c.-211T>G (n.-211T>G) n.1368T>G c.507T>G (p.Asp169Glu) c.810T>G (p.Asp270Glu) c.522T>G (p.Asp174Glu) c.957T>G (p.Asp319Glu) | |
| 8 | g.71271851A>G | CA461327464 | EYA1 | c.873T>C (p.Asp291=) c.771T>C (p.Asp257=) c.858T>C (p.Asp286=) c.*152T>C (n.*152T>C) c.109T>C n.1336T>C c.*640T>C (n.*640T>C) c.960T>C (p.Asp320=) c.945T>C (p.Asp315=) c.942T>C (p.Asp314=) c.855T>C (p.Asp285=) c.774T>C (p.Asp258=) c.870T>C (p.Asp290=) c.-211T>C (n.-211T>C) n.1368T>C c.507T>C (p.Asp169=) c.810T>C (p.Asp270=) c.522T>C (p.Asp174=) c.957T>C (p.Asp319=) | gnomAD v4 |
| 8 | g.71271851A>T | CA371469068 | EYA1 | c.873T>A (p.Asp291Glu) c.771T>A (p.Asp257Glu) c.858T>A (p.Asp286Glu) c.*152T>A (n.*152T>A) c.109T>A n.1336T>A c.*640T>A (n.*640T>A) c.960T>A (p.Asp320Glu) c.945T>A (p.Asp315Glu) c.942T>A (p.Asp314Glu) c.855T>A (p.Asp285Glu) c.774T>A (p.Asp258Glu) c.870T>A (p.Asp290Glu) c.-211T>A (n.-211T>A) n.1368T>A c.507T>A (p.Asp169Glu) c.810T>A (p.Asp270Glu) c.522T>A (p.Asp174Glu) c.957T>A (p.Asp319Glu) | |
| 8 | g.71271852T>A | CA371469070 | EYA1 | c.872A>T (p.Asp291Val) c.770A>T (p.Asp257Val) c.857A>T (p.Asp286Val) c.*151A>T (n.*151A>T) c.108A>T n.1335A>T c.*639A>T (n.*639A>T) c.959A>T (p.Asp320Val) c.944A>T (p.Asp315Val) c.941A>T (p.Asp314Val) c.854A>T (p.Asp285Val) c.773A>T (p.Asp258Val) c.869A>T (p.Asp290Val) c.-212A>T (n.-212A>T) n.1367A>T c.506A>T (p.Asp169Val) c.809A>T (p.Asp270Val) c.521A>T (p.Asp174Val) c.956A>T (p.Asp319Val) | |
| 8 | g.71271852T>C | CA371469071 | EYA1 | c.872A>G (p.Asp291Gly) c.770A>G (p.Asp257Gly) c.857A>G (p.Asp286Gly) c.*151A>G (n.*151A>G) c.108A>G n.1335A>G c.*639A>G (n.*639A>G) c.959A>G (p.Asp320Gly) c.944A>G (p.Asp315Gly) c.941A>G (p.Asp314Gly) c.854A>G (p.Asp285Gly) c.773A>G (p.Asp258Gly) c.869A>G (p.Asp290Gly) c.-212A>G (n.-212A>G) n.1367A>G c.506A>G (p.Asp169Gly) c.809A>G (p.Asp270Gly) c.521A>G (p.Asp174Gly) c.956A>G (p.Asp319Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.71271852T>G | CA371469073 | EYA1 | c.872A>C (p.Asp291Ala) c.770A>C (p.Asp257Ala) c.857A>C (p.Asp286Ala) c.*151A>C (n.*151A>C) c.108A>C n.1335A>C c.*639A>C (n.*639A>C) c.959A>C (p.Asp320Ala) c.944A>C (p.Asp315Ala) c.941A>C (p.Asp314Ala) c.854A>C (p.Asp285Ala) c.773A>C (p.Asp258Ala) c.869A>C (p.Asp290Ala) c.-212A>C (n.-212A>C) n.1367A>C c.506A>C (p.Asp169Ala) c.809A>C (p.Asp270Ala) c.521A>C (p.Asp174Ala) c.956A>C (p.Asp319Ala) | |
| 8 | g.71271852T= | CA1792716260 | EYA1 | c.872A= (p.Asp291=) c.770A= (p.Asp257=) c.857A= (p.Asp286=) c.*151A= (n.*151A=) c.108A= n.1335A= c.*639A= (n.*639A=) c.959A= (p.Asp320=) c.944A= (p.Asp315=) c.941A= (p.Asp314=) c.854A= (p.Asp285=) c.773A= (p.Asp258=) c.869A= (p.Asp290=) c.-212A= (n.-212A=) n.1367A= c.506A= (p.Asp169=) c.809A= (p.Asp270=) c.521A= (p.Asp174=) c.956A= (p.Asp319=) | |
| 8 | g.71271853C>A | CA371469076 | EYA1 | c.871G>T (p.Asp291Tyr) c.769G>T (p.Asp257Tyr) c.856G>T (p.Asp286Tyr) c.*150G>T (n.*150G>T) c.107G>T n.1334G>T c.*638G>T (n.*638G>T) c.958G>T (p.Asp320Tyr) c.943G>T (p.Asp315Tyr) c.940G>T (p.Asp314Tyr) c.853G>T (p.Asp285Tyr) c.772G>T (p.Asp258Tyr) c.868G>T (p.Asp290Tyr) c.-213G>T (n.-213G>T) n.1366G>T c.505G>T (p.Asp169Tyr) c.808G>T (p.Asp270Tyr) c.520G>T (p.Asp174Tyr) c.955G>T (p.Asp319Tyr) | |
| 8 | g.71271853C= | CA1792716261 | EYA1 | c.871G= (p.Asp291=) c.769G= (p.Asp257=) c.856G= (p.Asp286=) c.*150G= (n.*150G=) c.107G= n.1334G= c.*638G= (n.*638G=) c.958G= (p.Asp320=) c.943G= (p.Asp315=) c.940G= (p.Asp314=) c.853G= (p.Asp285=) c.772G= (p.Asp258=) c.868G= (p.Asp290=) c.-213G= (n.-213G=) n.1366G= c.505G= (p.Asp169=) c.808G= (p.Asp270=) c.520G= (p.Asp174=) c.955G= (p.Asp319=) | |
| 8 | g.71271853C>G | CA4779635 | EYA1 | c.871G>C (p.Asp291His) c.769G>C (p.Asp257His) c.856G>C (p.Asp286His) c.*150G>C (n.*150G>C) c.107G>C n.1334G>C c.*638G>C (n.*638G>C) c.958G>C (p.Asp320His) c.943G>C (p.Asp315His) c.940G>C (p.Asp314His) c.853G>C (p.Asp285His) c.772G>C (p.Asp258His) c.868G>C (p.Asp290His) c.-213G>C (n.-213G>C) n.1366G>C c.505G>C (p.Asp169His) c.808G>C (p.Asp270His) c.520G>C (p.Asp174His) c.955G>C (p.Asp319His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.71271853C>T | CA4779636 | EYA1 | c.871G>A (p.Asp291Asn) c.769G>A (p.Asp257Asn) c.856G>A (p.Asp286Asn) c.*150G>A (n.*150G>A) c.107G>A n.1334G>A c.*638G>A (n.*638G>A) c.958G>A (p.Asp320Asn) c.943G>A (p.Asp315Asn) c.940G>A (p.Asp314Asn) c.853G>A (p.Asp285Asn) c.772G>A (p.Asp258Asn) c.868G>A (p.Asp290Asn) c.-213G>A (n.-213G>A) n.1366G>A c.505G>A (p.Asp169Asn) c.808G>A (p.Asp270Asn) c.520G>A (p.Asp174Asn) c.955G>A (p.Asp319Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.71271854T>A | CA461327465 | EYA1 | c.870A>T (p.Ser290=) c.768A>T (p.Ser256=) c.855A>T (p.Ser285=) c.*149A>T (n.*149A>T) c.106A>T n.1333A>T c.*637A>T (n.*637A>T) c.957A>T (p.Ser319=) c.942A>T (p.Ser314=) c.939A>T (p.Ser313=) c.852A>T (p.Ser284=) c.771A>T (p.Ser257=) c.867A>T (p.Ser289=) c.-214A>T (n.-214A>T) n.1365A>T c.504A>T (p.Ser168=) c.807A>T (p.Ser269=) c.519A>T (p.Ser173=) c.954A>T (p.Ser318=) | |
| 8 | g.71271854T>C | CA461327466 | EYA1 | c.870A>G (p.Ser290=) c.768A>G (p.Ser256=) c.855A>G (p.Ser285=) c.*149A>G (n.*149A>G) c.106A>G n.1333A>G c.*637A>G (n.*637A>G) c.957A>G (p.Ser319=) c.942A>G (p.Ser314=) c.939A>G (p.Ser313=) c.852A>G (p.Ser284=) c.771A>G (p.Ser257=) c.867A>G (p.Ser289=) c.-214A>G (n.-214A>G) n.1365A>G c.504A>G (p.Ser168=) c.807A>G (p.Ser269=) c.519A>G (p.Ser173=) c.954A>G (p.Ser318=) | |
| 8 | g.71271854T>G | CA179250691 | EYA1 | c.870A>C (p.Ser290=) c.768A>C (p.Ser256=) c.855A>C (p.Ser285=) c.*149A>C (n.*149A>C) c.106A>C n.1333A>C c.*637A>C (n.*637A>C) c.957A>C (p.Ser319=) c.942A>C (p.Ser314=) c.939A>C (p.Ser313=) c.852A>C (p.Ser284=) c.771A>C (p.Ser257=) c.867A>C (p.Ser289=) c.-214A>C (n.-214A>C) n.1365A>C c.504A>C (p.Ser168=) c.807A>C (p.Ser269=) c.519A>C (p.Ser173=) c.954A>C (p.Ser318=) | dbSNP |
| 8 | g.71271854T= | CA1792716262 | EYA1 | c.870A= (p.Ser290=) c.768A= (p.Ser256=) c.855A= (p.Ser285=) c.*149A= (n.*149A=) c.106A= n.1333A= c.*637A= (n.*637A=) c.957A= (p.Ser319=) c.942A= (p.Ser314=) c.939A= (p.Ser313=) c.852A= (p.Ser284=) c.771A= (p.Ser257=) c.867A= (p.Ser289=) c.-214A= (n.-214A=) n.1365A= c.504A= (p.Ser168=) c.807A= (p.Ser269=) c.519A= (p.Ser173=) c.954A= (p.Ser318=) | |
| 8 | g.71271855G>A | CA371469079 | EYA1 | c.869C>T (p.Ser290Leu) c.767C>T (p.Ser256Leu) c.854C>T (p.Ser285Leu) c.*148C>T (n.*148C>T) c.105C>T n.1332C>T c.*636C>T (n.*636C>T) c.956C>T (p.Ser319Leu) c.941C>T (p.Ser314Leu) c.938C>T (p.Ser313Leu) c.851C>T (p.Ser284Leu) c.770C>T (p.Ser257Leu) c.866C>T (p.Ser289Leu) c.-215C>T (n.-215C>T) n.1364C>T c.503C>T (p.Ser168Leu) c.806C>T (p.Ser269Leu) c.518C>T (p.Ser173Leu) c.953C>T (p.Ser318Leu) | |
| 8 | g.71271855G>C | CA371469081 | EYA1 | c.869C>G (p.Ser290Ter) c.767C>G (p.Ser256Ter) c.854C>G (p.Ser285Ter) c.*148C>G (n.*148C>G) c.105C>G n.1332C>G c.*636C>G (n.*636C>G) c.956C>G (p.Ser319Ter) c.941C>G (p.Ser314Ter) c.938C>G (p.Ser313Ter) c.851C>G (p.Ser284Ter) c.770C>G (p.Ser257Ter) c.866C>G (p.Ser289Ter) c.-215C>G (n.-215C>G) n.1364C>G c.503C>G (p.Ser168Ter) c.806C>G (p.Ser269Ter) c.518C>G (p.Ser173Ter) c.953C>G (p.Ser318Ter) | |
| 8 | g.71271855G>T | CA371469082 | EYA1 | c.869C>A (p.Ser290Ter) c.767C>A (p.Ser256Ter) c.854C>A (p.Ser285Ter) c.*148C>A (n.*148C>A) c.105C>A n.1332C>A c.*636C>A (n.*636C>A) c.956C>A (p.Ser319Ter) c.941C>A (p.Ser314Ter) c.938C>A (p.Ser313Ter) c.851C>A (p.Ser284Ter) c.770C>A (p.Ser257Ter) c.866C>A (p.Ser289Ter) c.-215C>A (n.-215C>A) n.1364C>A c.503C>A (p.Ser168Ter) c.806C>A (p.Ser269Ter) c.518C>A (p.Ser173Ter) c.953C>A (p.Ser318Ter) | |
| 8 | g.71271856A>C | CA371469084 | EYA1 | c.868T>G (p.Ser290Ala) c.766T>G (p.Ser256Ala) c.853T>G (p.Ser285Ala) c.*147T>G (n.*147T>G) c.104T>G n.1331T>G c.*635T>G (n.*635T>G) c.955T>G (p.Ser319Ala) c.940T>G (p.Ser314Ala) c.937T>G (p.Ser313Ala) c.850T>G (p.Ser284Ala) c.769T>G (p.Ser257Ala) c.865T>G (p.Ser289Ala) c.-216T>G (n.-216T>G) n.1363T>G c.502T>G (p.Ser168Ala) c.805T>G (p.Ser269Ala) c.517T>G (p.Ser173Ala) c.952T>G (p.Ser318Ala) | |
| 8 | g.71271856A>G | CA371469086 | EYA1 | c.868T>C (p.Ser290Pro) c.766T>C (p.Ser256Pro) c.853T>C (p.Ser285Pro) c.*147T>C (n.*147T>C) c.104T>C n.1331T>C c.*635T>C (n.*635T>C) c.955T>C (p.Ser319Pro) c.940T>C (p.Ser314Pro) c.937T>C (p.Ser313Pro) c.850T>C (p.Ser284Pro) c.769T>C (p.Ser257Pro) c.865T>C (p.Ser289Pro) c.-216T>C (n.-216T>C) n.1363T>C c.502T>C (p.Ser168Pro) c.805T>C (p.Ser269Pro) c.517T>C (p.Ser173Pro) c.952T>C (p.Ser318Pro) | |
| 8 | g.71271856A>T | CA371469087 | EYA1 | c.868T>A (p.Ser290Thr) c.766T>A (p.Ser256Thr) c.853T>A (p.Ser285Thr) c.*147T>A (n.*147T>A) c.104T>A n.1331T>A c.*635T>A (n.*635T>A) c.955T>A (p.Ser319Thr) c.940T>A (p.Ser314Thr) c.937T>A (p.Ser313Thr) c.850T>A (p.Ser284Thr) c.769T>A (p.Ser257Thr) c.865T>A (p.Ser289Thr) c.-216T>A (n.-216T>A) n.1363T>A c.502T>A (p.Ser168Thr) c.805T>A (p.Ser269Thr) c.517T>A (p.Ser173Thr) c.952T>A (p.Ser318Thr) | |
| 8 | g.71271857A= | CA1792716263 | EYA1 | c.867T= (p.Asp289=) c.765T= (p.Asp255=) c.852T= (p.Asp284=) c.*146T= (n.*146T=) c.103T= n.1330T= c.*634T= (n.*634T=) c.954T= (p.Asp318=) c.939T= (p.Asp313=) c.936T= (p.Asp312=) c.849T= (p.Asp283=) c.768T= (p.Asp256=) c.864T= (p.Asp288=) c.-217T= (n.-217T=) n.1362T= c.501T= (p.Asp167=) c.804T= (p.Asp268=) c.516T= (p.Asp172=) c.951T= (p.Asp317=) | |
| 8 | g.71271857A>C | CA371469092 | EYA1 | c.867T>G (p.Asp289Glu) c.765T>G (p.Asp255Glu) c.852T>G (p.Asp284Glu) c.*146T>G (n.*146T>G) c.103T>G n.1330T>G c.*634T>G (n.*634T>G) c.954T>G (p.Asp318Glu) c.939T>G (p.Asp313Glu) c.936T>G (p.Asp312Glu) c.849T>G (p.Asp283Glu) c.768T>G (p.Asp256Glu) c.864T>G (p.Asp288Glu) c.-217T>G (n.-217T>G) n.1362T>G c.501T>G (p.Asp167Glu) c.804T>G (p.Asp268Glu) c.516T>G (p.Asp172Glu) c.951T>G (p.Asp317Glu) | |
| 8 | g.71271857A>G | CA4779637 | EYA1 | c.867T>C (p.Asp289=) c.765T>C (p.Asp255=) c.852T>C (p.Asp284=) c.*146T>C (n.*146T>C) c.103T>C n.1330T>C c.*634T>C (n.*634T>C) c.954T>C (p.Asp318=) c.939T>C (p.Asp313=) c.936T>C (p.Asp312=) c.849T>C (p.Asp283=) c.768T>C (p.Asp256=) c.864T>C (p.Asp288=) c.-217T>C (n.-217T>C) n.1362T>C c.501T>C (p.Asp167=) c.804T>C (p.Asp268=) c.516T>C (p.Asp172=) c.951T>C (p.Asp317=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.71271857A>T | CA371469090 | EYA1 | c.867T>A (p.Asp289Glu) c.765T>A (p.Asp255Glu) c.852T>A (p.Asp284Glu) c.*146T>A (n.*146T>A) c.103T>A n.1330T>A c.*634T>A (n.*634T>A) c.954T>A (p.Asp318Glu) c.939T>A (p.Asp313Glu) c.936T>A (p.Asp312Glu) c.849T>A (p.Asp283Glu) c.768T>A (p.Asp256Glu) c.864T>A (p.Asp288Glu) c.-217T>A (n.-217T>A) n.1362T>A c.501T>A (p.Asp167Glu) c.804T>A (p.Asp268Glu) c.516T>A (p.Asp172Glu) c.951T>A (p.Asp317Glu) | |
| 8 | g.71271858del | CA2695209833 | EYA1 | c.866del (p.Asp289ValfsTer?) c.764del (p.Asp255ValfsTer?) c.851del (p.Asp284ValfsTer?) c.*145del (n.*145del) c.102del n.1329del c.*633del (n.*633del) c.953del (p.Asp318ValfsTer?) c.938del (p.Asp313ValfsTer?) c.935del (p.Asp312ValfsTer?) c.848del (p.Asp283ValfsTer?) c.767del (p.Asp256ValfsTer?) c.863del (p.Asp288ValfsTer?) c.-218del (n.-218del) n.1361del c.500del (p.Asp167ValfsTer?) c.803del (p.Asp268ValfsTer?) c.515del (p.Asp172ValfsTer?) c.950del (p.Asp317ValfsTer?) | |
| 8 | g.71271858T>A | CA179250695 | EYA1 | c.866A>T (p.Asp289Val) c.764A>T (p.Asp255Val) c.851A>T (p.Asp284Val) c.*145A>T (n.*145A>T) c.102A>T n.1329A>T c.*633A>T (n.*633A>T) c.953A>T (p.Asp318Val) c.938A>T (p.Asp313Val) c.935A>T (p.Asp312Val) c.848A>T (p.Asp283Val) c.767A>T (p.Asp256Val) c.863A>T (p.Asp288Val) c.-218A>T (n.-218A>T) n.1361A>T c.500A>T (p.Asp167Val) c.803A>T (p.Asp268Val) c.515A>T (p.Asp172Val) c.950A>T (p.Asp317Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.71271858T>C | CA371469095 | EYA1 | c.866A>G (p.Asp289Gly) c.764A>G (p.Asp255Gly) c.851A>G (p.Asp284Gly) c.*145A>G (n.*145A>G) c.102A>G n.1329A>G c.*633A>G (n.*633A>G) c.953A>G (p.Asp318Gly) c.938A>G (p.Asp313Gly) c.935A>G (p.Asp312Gly) c.848A>G (p.Asp283Gly) c.767A>G (p.Asp256Gly) c.863A>G (p.Asp288Gly) c.-218A>G (n.-218A>G) n.1361A>G c.500A>G (p.Asp167Gly) c.803A>G (p.Asp268Gly) c.515A>G (p.Asp172Gly) c.950A>G (p.Asp317Gly) | |
| 8 | g.71271858T>G | CA371469097 | EYA1 | c.866A>C (p.Asp289Ala) c.764A>C (p.Asp255Ala) c.851A>C (p.Asp284Ala) c.*145A>C (n.*145A>C) c.102A>C n.1329A>C c.*633A>C (n.*633A>C) c.953A>C (p.Asp318Ala) c.938A>C (p.Asp313Ala) c.935A>C (p.Asp312Ala) c.848A>C (p.Asp283Ala) c.767A>C (p.Asp256Ala) c.863A>C (p.Asp288Ala) c.-218A>C (n.-218A>C) n.1361A>C c.500A>C (p.Asp167Ala) c.803A>C (p.Asp268Ala) c.515A>C (p.Asp172Ala) c.950A>C (p.Asp317Ala) | |
| 8 | g.71271858T= | CA1792716264 | EYA1 | c.866A= (p.Asp289=) c.764A= (p.Asp255=) c.851A= (p.Asp284=) c.*145A= (n.*145A=) c.102A= n.1329A= c.*633A= (n.*633A=) c.953A= (p.Asp318=) c.938A= (p.Asp313=) c.935A= (p.Asp312=) c.848A= (p.Asp283=) c.767A= (p.Asp256=) c.863A= (p.Asp288=) c.-218A= (n.-218A=) n.1361A= c.500A= (p.Asp167=) c.803A= (p.Asp268=) c.515A= (p.Asp172=) c.950A= (p.Asp317=) | |
| 8 | g.71271859_71271862del | CA2695209832 | EYA1 | c.863_866del (p.Lys288IlefsTer?) c.761_764del (p.Lys254IlefsTer?) c.848_851del (p.Lys283IlefsTer?) c.*142_*145del (n.*142_*145del) c.99_102del n.1326_1329del c.*630_*633del (n.*630_*633del) c.950_953del (p.Lys317IlefsTer?) c.935_938del (p.Lys312IlefsTer?) c.932_935del (p.Lys311IlefsTer?) c.845_848del (p.Lys282IlefsTer?) c.764_767del (p.Lys255IlefsTer?) c.860_863del (p.Lys287IlefsTer?) c.-221_-218del (n.-221_-218del) n.1358_1361del c.497_500del (p.Lys166IlefsTer?) c.800_803del (p.Lys267IlefsTer?) c.512_515del (p.Lys171IlefsTer?) c.947_950del (p.Lys316IlefsTer?) | |
| 8 | g.71271859C>A | CA4779638 | EYA1 | c.865G>T (p.Asp289Tyr) c.763G>T (p.Asp255Tyr) c.850G>T (p.Asp284Tyr) c.*144G>T (n.*144G>T) c.101G>T n.1328G>T c.*632G>T (n.*632G>T) c.952G>T (p.Asp318Tyr) c.937G>T (p.Asp313Tyr) c.934G>T (p.Asp312Tyr) c.847G>T (p.Asp283Tyr) c.766G>T (p.Asp256Tyr) c.862G>T (p.Asp288Tyr) c.-219G>T (n.-219G>T) n.1360G>T c.499G>T (p.Asp167Tyr) c.802G>T (p.Asp268Tyr) c.514G>T (p.Asp172Tyr) c.949G>T (p.Asp317Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.71271859C= | CA1792716265 | EYA1 | c.865G= (p.Asp289=) c.763G= (p.Asp255=) c.850G= (p.Asp284=) c.*144G= (n.*144G=) c.101G= n.1328G= c.*632G= (n.*632G=) c.952G= (p.Asp318=) c.937G= (p.Asp313=) c.934G= (p.Asp312=) c.847G= (p.Asp283=) c.766G= (p.Asp256=) c.862G= (p.Asp288=) c.-219G= (n.-219G=) n.1360G= c.499G= (p.Asp167=) c.802G= (p.Asp268=) c.514G= (p.Asp172=) c.949G= (p.Asp317=) | |
| 8 | g.71271859C>G | CA371469100 | EYA1 | c.865G>C (p.Asp289His) c.763G>C (p.Asp255His) c.850G>C (p.Asp284His) c.*144G>C (n.*144G>C) c.101G>C n.1328G>C c.*632G>C (n.*632G>C) c.952G>C (p.Asp318His) c.937G>C (p.Asp313His) c.934G>C (p.Asp312His) c.847G>C (p.Asp283His) c.766G>C (p.Asp256His) c.862G>C (p.Asp288His) c.-219G>C (n.-219G>C) n.1360G>C c.499G>C (p.Asp167His) c.802G>C (p.Asp268His) c.514G>C (p.Asp172His) c.949G>C (p.Asp317His) | COSMIC COSMIC |
| 8 | g.71271859C>T | CA371469102 | EYA1 | c.865G>A (p.Asp289Asn) c.763G>A (p.Asp255Asn) c.850G>A (p.Asp284Asn) c.*144G>A (n.*144G>A) c.101G>A n.1328G>A c.*632G>A (n.*632G>A) c.952G>A (p.Asp318Asn) c.937G>A (p.Asp313Asn) c.934G>A (p.Asp312Asn) c.847G>A (p.Asp283Asn) c.766G>A (p.Asp256Asn) c.862G>A (p.Asp288Asn) c.-219G>A (n.-219G>A) n.1360G>A c.499G>A (p.Asp167Asn) c.802G>A (p.Asp268Asn) c.514G>A (p.Asp172Asn) c.949G>A (p.Asp317Asn) | |
| 8 | g.71271860T>A | CA371469103 | EYA1 | c.864A>T (p.Lys288Asn) c.762A>T (p.Lys254Asn) c.849A>T (p.Lys283Asn) c.*143A>T (n.*143A>T) c.100A>T n.1327A>T c.*631A>T (n.*631A>T) c.951A>T (p.Lys317Asn) c.936A>T (p.Lys312Asn) c.933A>T (p.Lys311Asn) c.846A>T (p.Lys282Asn) c.765A>T (p.Lys255Asn) c.861A>T (p.Lys287Asn) c.-220A>T (n.-220A>T) n.1359A>T c.498A>T (p.Lys166Asn) c.801A>T (p.Lys267Asn) c.513A>T (p.Lys171Asn) c.948A>T (p.Lys316Asn) | |
| 8 | g.71271860T>C | CA461327467 | EYA1 | c.864A>G (p.Lys288=) c.762A>G (p.Lys254=) c.849A>G (p.Lys283=) c.*143A>G (n.*143A>G) c.100A>G n.1327A>G c.*631A>G (n.*631A>G) c.951A>G (p.Lys317=) c.936A>G (p.Lys312=) c.933A>G (p.Lys311=) c.846A>G (p.Lys282=) c.765A>G (p.Lys255=) c.861A>G (p.Lys287=) c.-220A>G (n.-220A>G) n.1359A>G c.498A>G (p.Lys166=) c.801A>G (p.Lys267=) c.513A>G (p.Lys171=) c.948A>G (p.Lys316=) | |
| 8 | g.71271860T>G | CA371469104 | EYA1 | c.864A>C (p.Lys288Asn) c.762A>C (p.Lys254Asn) c.849A>C (p.Lys283Asn) c.*143A>C (n.*143A>C) c.100A>C n.1327A>C c.*631A>C (n.*631A>C) c.951A>C (p.Lys317Asn) c.936A>C (p.Lys312Asn) c.933A>C (p.Lys311Asn) c.846A>C (p.Lys282Asn) c.765A>C (p.Lys255Asn) c.861A>C (p.Lys287Asn) c.-220A>C (n.-220A>C) n.1359A>C c.498A>C (p.Lys166Asn) c.801A>C (p.Lys267Asn) c.513A>C (p.Lys171Asn) c.948A>C (p.Lys316Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.71271860T= | CA1792716266 | EYA1 | c.864A= (p.Lys288=) c.762A= (p.Lys254=) c.849A= (p.Lys283=) c.*143A= (n.*143A=) c.100A= n.1327A= c.*631A= (n.*631A=) c.951A= (p.Lys317=) c.936A= (p.Lys312=) c.933A= (p.Lys311=) c.846A= (p.Lys282=) c.765A= (p.Lys255=) c.861A= (p.Lys287=) c.-220A= (n.-220A=) n.1359A= c.498A= (p.Lys166=) c.801A= (p.Lys267=) c.513A= (p.Lys171=) c.948A= (p.Lys316=) | |
| 8 | g.71271861T>A | CA371469105 | EYA1 | c.863A>T (p.Lys288Ile) c.761A>T (p.Lys254Ile) c.848A>T (p.Lys283Ile) c.*142A>T (n.*142A>T) c.99A>T n.1326A>T c.*630A>T (n.*630A>T) c.950A>T (p.Lys317Ile) c.935A>T (p.Lys312Ile) c.932A>T (p.Lys311Ile) c.845A>T (p.Lys282Ile) c.764A>T (p.Lys255Ile) c.860A>T (p.Lys287Ile) c.-221A>T (n.-221A>T) n.1358A>T c.497A>T (p.Lys166Ile) c.800A>T (p.Lys267Ile) c.512A>T (p.Lys171Ile) c.947A>T (p.Lys316Ile) | |
| 8 | g.71271861T>C | CA371469106 | EYA1 | c.863A>G (p.Lys288Arg) c.761A>G (p.Lys254Arg) c.848A>G (p.Lys283Arg) c.*142A>G (n.*142A>G) c.99A>G n.1326A>G c.*630A>G (n.*630A>G) c.950A>G (p.Lys317Arg) c.935A>G (p.Lys312Arg) c.932A>G (p.Lys311Arg) c.845A>G (p.Lys282Arg) c.764A>G (p.Lys255Arg) c.860A>G (p.Lys287Arg) c.-221A>G (n.-221A>G) n.1358A>G c.497A>G (p.Lys166Arg) c.800A>G (p.Lys267Arg) c.512A>G (p.Lys171Arg) c.947A>G (p.Lys316Arg) | COSMIC COSMIC |
| 8 | g.71271861T>G | CA371469107 | EYA1 | c.863A>C (p.Lys288Thr) c.761A>C (p.Lys254Thr) c.848A>C (p.Lys283Thr) c.*142A>C (n.*142A>C) c.99A>C n.1326A>C c.*630A>C (n.*630A>C) c.950A>C (p.Lys317Thr) c.935A>C (p.Lys312Thr) c.932A>C (p.Lys311Thr) c.845A>C (p.Lys282Thr) c.764A>C (p.Lys255Thr) c.860A>C (p.Lys287Thr) c.-221A>C (n.-221A>C) n.1358A>C c.497A>C (p.Lys166Thr) c.800A>C (p.Lys267Thr) c.512A>C (p.Lys171Thr) c.947A>C (p.Lys316Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.71271861T= | CA1792716267 | EYA1 | c.863A= (p.Lys288=) c.761A= (p.Lys254=) c.848A= (p.Lys283=) c.*142A= (n.*142A=) c.99A= n.1326A= c.*630A= (n.*630A=) c.950A= (p.Lys317=) c.935A= (p.Lys312=) c.932A= (p.Lys311=) c.845A= (p.Lys282=) c.764A= (p.Lys255=) c.860A= (p.Lys287=) c.-221A= (n.-221A=) n.1358A= c.497A= (p.Lys166=) c.800A= (p.Lys267=) c.512A= (p.Lys171=) c.947A= (p.Lys316=) | |
| 8 | g.71271862T>A | CA371469110 | EYA1 | c.862A>T (p.Lys288Ter) c.760A>T (p.Lys254Ter) c.847A>T (p.Lys283Ter) c.*141A>T (n.*141A>T) c.98A>T n.1325A>T c.*629A>T (n.*629A>T) c.949A>T (p.Lys317Ter) c.934A>T (p.Lys312Ter) c.931A>T (p.Lys311Ter) c.844A>T (p.Lys282Ter) c.763A>T (p.Lys255Ter) c.859A>T (p.Lys287Ter) c.-222A>T (n.-222A>T) n.1357A>T c.496A>T (p.Lys166Ter) c.799A>T (p.Lys267Ter) c.511A>T (p.Lys171Ter) c.946A>T (p.Lys316Ter) | |
| 8 | g.71271862T>C | CA371469109 | EYA1 | c.862A>G (p.Lys288Glu) c.760A>G (p.Lys254Glu) c.847A>G (p.Lys283Glu) c.*141A>G (n.*141A>G) c.98A>G n.1325A>G c.*629A>G (n.*629A>G) c.949A>G (p.Lys317Glu) c.934A>G (p.Lys312Glu) c.931A>G (p.Lys311Glu) c.844A>G (p.Lys282Glu) c.763A>G (p.Lys255Glu) c.859A>G (p.Lys287Glu) c.-222A>G (n.-222A>G) n.1357A>G c.496A>G (p.Lys166Glu) c.799A>G (p.Lys267Glu) c.511A>G (p.Lys171Glu) c.946A>G (p.Lys316Glu) | gnomAD v4 COSMIC COSMIC |
| 8 | g.71271862T>G | CA371469108 | EYA1 | c.862A>C (p.Lys288Gln) c.760A>C (p.Lys254Gln) c.847A>C (p.Lys283Gln) c.*141A>C (n.*141A>C) c.98A>C n.1325A>C c.*629A>C (n.*629A>C) c.949A>C (p.Lys317Gln) c.934A>C (p.Lys312Gln) c.931A>C (p.Lys311Gln) c.844A>C (p.Lys282Gln) c.763A>C (p.Lys255Gln) c.859A>C (p.Lys287Gln) c.-222A>C (n.-222A>C) n.1357A>C c.496A>C (p.Lys166Gln) c.799A>C (p.Lys267Gln) c.511A>C (p.Lys171Gln) c.946A>C (p.Lys316Gln) | |
| 8 | g.71271863A>C | CA371469111 | EYA1 | c.861T>G (p.Ile287Met) c.759T>G (p.Ile253Met) c.846T>G (p.Ile282Met) c.*140T>G (n.*140T>G) c.97T>G n.1324T>G c.*628T>G (n.*628T>G) c.948T>G (p.Ile316Met) c.933T>G (p.Ile311Met) c.930T>G (p.Ile310Met) c.843T>G (p.Ile281Met) c.762T>G (p.Ile254Met) c.858T>G (p.Ile286Met) c.-223T>G (n.-223T>G) n.1356T>G c.495T>G (p.Ile165Met) c.798T>G (p.Ile266Met) c.510T>G (p.Ile170Met) c.945T>G (p.Ile315Met) | |
| 8 | g.71271863A>G | CA461327468 | EYA1 | c.861T>C (p.Ile287=) c.759T>C (p.Ile253=) c.846T>C (p.Ile282=) c.*140T>C (n.*140T>C) c.97T>C n.1324T>C c.*628T>C (n.*628T>C) c.948T>C (p.Ile316=) c.933T>C (p.Ile311=) c.930T>C (p.Ile310=) c.843T>C (p.Ile281=) c.762T>C (p.Ile254=) c.858T>C (p.Ile286=) c.-223T>C (n.-223T>C) n.1356T>C c.495T>C (p.Ile165=) c.798T>C (p.Ile266=) c.510T>C (p.Ile170=) c.945T>C (p.Ile315=) | |
| 8 | g.71271863A>T | CA461327469 | EYA1 | c.861T>A (p.Ile287=) c.759T>A (p.Ile253=) c.846T>A (p.Ile282=) c.*140T>A (n.*140T>A) c.97T>A n.1324T>A c.*628T>A (n.*628T>A) c.948T>A (p.Ile316=) c.933T>A (p.Ile311=) c.930T>A (p.Ile310=) c.843T>A (p.Ile281=) c.762T>A (p.Ile254=) c.858T>A (p.Ile286=) c.-223T>A (n.-223T>A) n.1356T>A c.495T>A (p.Ile165=) c.798T>A (p.Ile266=) c.510T>A (p.Ile170=) c.945T>A (p.Ile315=) | gnomAD v4 |
| 8 | g.71271864A= | CA1792716268 | EYA1 | c.860T= (p.Ile287=) c.758T= (p.Ile253=) c.845T= (p.Ile282=) c.*139T= (n.*139T=) c.96T= n.1323T= c.*627T= (n.*627T=) c.947T= (p.Ile316=) c.932T= (p.Ile311=) c.929T= (p.Ile310=) c.842T= (p.Ile281=) c.761T= (p.Ile254=) c.857T= (p.Ile286=) c.-224T= (n.-224T=) n.1355T= c.494T= (p.Ile165=) c.797T= (p.Ile266=) c.509T= (p.Ile170=) c.944T= (p.Ile315=) | |
| 8 | g.71271864A>C | CA371469112 | EYA1 | c.860T>G (p.Ile287Ser) c.758T>G (p.Ile253Ser) c.845T>G (p.Ile282Ser) c.*139T>G (n.*139T>G) c.96T>G n.1323T>G c.*627T>G (n.*627T>G) c.947T>G (p.Ile316Ser) c.932T>G (p.Ile311Ser) c.929T>G (p.Ile310Ser) c.842T>G (p.Ile281Ser) c.761T>G (p.Ile254Ser) c.857T>G (p.Ile286Ser) c.-224T>G (n.-224T>G) n.1355T>G c.494T>G (p.Ile165Ser) c.797T>G (p.Ile266Ser) c.509T>G (p.Ile170Ser) c.944T>G (p.Ile315Ser) | dbSNP |
| 8 | g.71271864A>G | CA371469113 | EYA1 | c.860T>C (p.Ile287Thr) c.758T>C (p.Ile253Thr) c.845T>C (p.Ile282Thr) c.*139T>C (n.*139T>C) c.96T>C n.1323T>C c.*627T>C (n.*627T>C) c.947T>C (p.Ile316Thr) c.932T>C (p.Ile311Thr) c.929T>C (p.Ile310Thr) c.842T>C (p.Ile281Thr) c.761T>C (p.Ile254Thr) c.857T>C (p.Ile286Thr) c.-224T>C (n.-224T>C) n.1355T>C c.494T>C (p.Ile165Thr) c.797T>C (p.Ile266Thr) c.509T>C (p.Ile170Thr) c.944T>C (p.Ile315Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.71271864A>T | CA371469114 | EYA1 | c.860T>A (p.Ile287Asn) c.758T>A (p.Ile253Asn) c.845T>A (p.Ile282Asn) c.*139T>A (n.*139T>A) c.96T>A n.1323T>A c.*627T>A (n.*627T>A) c.947T>A (p.Ile316Asn) c.932T>A (p.Ile311Asn) c.929T>A (p.Ile310Asn) c.842T>A (p.Ile281Asn) c.761T>A (p.Ile254Asn) c.857T>A (p.Ile286Asn) c.-224T>A (n.-224T>A) n.1355T>A c.494T>A (p.Ile165Asn) c.797T>A (p.Ile266Asn) c.509T>A (p.Ile170Asn) c.944T>A (p.Ile315Asn) | |
| 8 | g.71271865T>A | CA4779639 | EYA1 | c.859A>T (p.Ile287Phe) c.757A>T (p.Ile253Phe) c.844A>T (p.Ile282Phe) c.*138A>T (n.*138A>T) c.95A>T n.1322A>T c.*626A>T (n.*626A>T) c.946A>T (p.Ile316Phe) c.931A>T (p.Ile311Phe) c.928A>T (p.Ile310Phe) c.841A>T (p.Ile281Phe) c.760A>T (p.Ile254Phe) c.856A>T (p.Ile286Phe) c.-225A>T (n.-225A>T) n.1354A>T c.493A>T (p.Ile165Phe) c.796A>T (p.Ile266Phe) c.508A>T (p.Ile170Phe) c.943A>T (p.Ile315Phe) | dbSNP ExAC gnomAD v4 |
| 8 | g.71271865T>C | CA371469115 | EYA1 | c.859A>G (p.Ile287Val) c.757A>G (p.Ile253Val) c.844A>G (p.Ile282Val) c.*138A>G (n.*138A>G) c.95A>G n.1322A>G c.*626A>G (n.*626A>G) c.946A>G (p.Ile316Val) c.931A>G (p.Ile311Val) c.928A>G (p.Ile310Val) c.841A>G (p.Ile281Val) c.760A>G (p.Ile254Val) c.856A>G (p.Ile286Val) c.-225A>G (n.-225A>G) n.1354A>G c.493A>G (p.Ile165Val) c.796A>G (p.Ile266Val) c.508A>G (p.Ile170Val) c.943A>G (p.Ile315Val) | gnomAD v4 |
| 8 | g.71271865T>G | CA371469116 | EYA1 | c.859A>C (p.Ile287Leu) c.757A>C (p.Ile253Leu) c.844A>C (p.Ile282Leu) c.*138A>C (n.*138A>C) c.95A>C n.1322A>C c.*626A>C (n.*626A>C) c.946A>C (p.Ile316Leu) c.931A>C (p.Ile311Leu) c.928A>C (p.Ile310Leu) c.841A>C (p.Ile281Leu) c.760A>C (p.Ile254Leu) c.856A>C (p.Ile286Leu) c.-225A>C (n.-225A>C) n.1354A>C c.493A>C (p.Ile165Leu) c.796A>C (p.Ile266Leu) c.508A>C (p.Ile170Leu) c.943A>C (p.Ile315Leu) | gnomAD v4 |
| 8 | g.71271865T= | CA1792716269 | EYA1 | c.859A= (p.Ile287=) c.757A= (p.Ile253=) c.844A= (p.Ile282=) c.*138A= (n.*138A=) c.95A= n.1322A= c.*626A= (n.*626A=) c.946A= (p.Ile316=) c.931A= (p.Ile311=) c.928A= (p.Ile310=) c.841A= (p.Ile281=) c.760A= (p.Ile254=) c.856A= (p.Ile286=) c.-225A= (n.-225A=) n.1354A= c.493A= (p.Ile165=) c.796A= (p.Ile266=) c.508A= (p.Ile170=) c.943A= (p.Ile315=) | |
| 8 | g.71271866G>A | CA461327470 | EYA1 | c.858C>T (p.Pro286=) c.756C>T (p.Pro252=) c.843C>T (p.Pro281=) c.*137C>T (n.*137C>T) c.94C>T n.1321C>T c.*625C>T (n.*625C>T) c.945C>T (p.Pro315=) c.930C>T (p.Pro310=) c.927C>T (p.Pro309=) c.840C>T (p.Pro280=) c.759C>T (p.Pro253=) c.855C>T (p.Pro285=) c.-226C>T (n.-226C>T) n.1353C>T c.492C>T (p.Pro164=) c.795C>T (p.Pro265=) c.507C>T (p.Pro169=) c.942C>T (p.Pro314=) | dbSNP gnomAD v4 COSMIC COSMIC |
| 8 | g.71271866G>C | CA461327471 | EYA1 | c.858C>G (p.Pro286=) c.756C>G (p.Pro252=) c.843C>G (p.Pro281=) c.*137C>G (n.*137C>G) c.94C>G n.1321C>G c.*625C>G (n.*625C>G) c.945C>G (p.Pro315=) c.930C>G (p.Pro310=) c.927C>G (p.Pro309=) c.840C>G (p.Pro280=) c.759C>G (p.Pro253=) c.855C>G (p.Pro285=) c.-226C>G (n.-226C>G) n.1353C>G c.492C>G (p.Pro164=) c.795C>G (p.Pro265=) c.507C>G (p.Pro169=) c.942C>G (p.Pro314=) | |
| 8 | g.71271866G= | CA1792716270 | EYA1 | c.858C= (p.Pro286=) c.756C= (p.Pro252=) c.843C= (p.Pro281=) c.*137C= (n.*137C=) c.94C= n.1321C= c.*625C= (n.*625C=) c.945C= (p.Pro315=) c.930C= (p.Pro310=) c.927C= (p.Pro309=) c.840C= (p.Pro280=) c.759C= (p.Pro253=) c.855C= (p.Pro285=) c.-226C= (n.-226C=) n.1353C= c.492C= (p.Pro164=) c.795C= (p.Pro265=) c.507C= (p.Pro169=) c.942C= (p.Pro314=) | |
| 8 | g.71271866G>T | CA461327472 | EYA1 | c.858C>A (p.Pro286=) c.756C>A (p.Pro252=) c.843C>A (p.Pro281=) c.*137C>A (n.*137C>A) c.94C>A n.1321C>A c.*625C>A (n.*625C>A) c.945C>A (p.Pro315=) c.930C>A (p.Pro310=) c.927C>A (p.Pro309=) c.840C>A (p.Pro280=) c.759C>A (p.Pro253=) c.855C>A (p.Pro285=) c.-226C>A (n.-226C>A) n.1353C>A c.492C>A (p.Pro164=) c.795C>A (p.Pro265=) c.507C>A (p.Pro169=) c.942C>A (p.Pro314=) | |
| 8 | g.71271868del | CA2695209834 | EYA1 | c.858del (p.Ile287LeufsTer?) c.756del (p.Ile253LeufsTer?) c.843del (p.Ile282LeufsTer?) c.*137del (n.*137del) c.94del n.1321del c.*625del (n.*625del) c.945del (p.Ile316LeufsTer?) c.930del (p.Ile311LeufsTer?) c.927del (p.Ile310LeufsTer?) c.840del (p.Ile281LeufsTer?) c.759del (p.Ile254LeufsTer?) c.855del (p.Ile286LeufsTer?) c.-226del (n.-226del) n.1353del c.492del (p.Ile165LeufsTer?) c.795del (p.Ile266LeufsTer?) c.507del (p.Ile170LeufsTer?) c.942del (p.Ile315LeufsTer?) | |
| 8 | g.71271867G>A | CA4779640 | EYA1 | c.857C>T (p.Pro286Leu) c.755C>T (p.Pro252Leu) c.842C>T (p.Pro281Leu) c.*136C>T (n.*136C>T) c.93C>T n.1320C>T c.*624C>T (n.*624C>T) c.944C>T (p.Pro315Leu) c.929C>T (p.Pro310Leu) c.926C>T (p.Pro309Leu) c.839C>T (p.Pro280Leu) c.758C>T (p.Pro253Leu) c.854C>T (p.Pro285Leu) c.-227C>T (n.-227C>T) n.1352C>T c.491C>T (p.Pro164Leu) c.794C>T (p.Pro265Leu) c.506C>T (p.Pro169Leu) c.941C>T (p.Pro314Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.71271867G>C | CA371469117 | EYA1 | c.857C>G (p.Pro286Arg) c.755C>G (p.Pro252Arg) c.842C>G (p.Pro281Arg) c.*136C>G (n.*136C>G) c.93C>G n.1320C>G c.*624C>G (n.*624C>G) c.944C>G (p.Pro315Arg) c.929C>G (p.Pro310Arg) c.926C>G (p.Pro309Arg) c.839C>G (p.Pro280Arg) c.758C>G (p.Pro253Arg) c.854C>G (p.Pro285Arg) c.-227C>G (n.-227C>G) n.1352C>G c.491C>G (p.Pro164Arg) c.794C>G (p.Pro265Arg) c.506C>G (p.Pro169Arg) c.941C>G (p.Pro314Arg) | |
| 8 | g.71271867G= | CA1792716271 | EYA1 | c.857C= (p.Pro286=) c.755C= (p.Pro252=) c.842C= (p.Pro281=) c.*136C= (n.*136C=) c.93C= n.1320C= c.*624C= (n.*624C=) c.944C= (p.Pro315=) c.929C= (p.Pro310=) c.926C= (p.Pro309=) c.839C= (p.Pro280=) c.758C= (p.Pro253=) c.854C= (p.Pro285=) c.-227C= (n.-227C=) n.1352C= c.491C= (p.Pro164=) c.794C= (p.Pro265=) c.506C= (p.Pro169=) c.941C= (p.Pro314=) | |
| 8 | g.71271867G>T | CA371469118 | EYA1 | c.857C>A (p.Pro286His) c.755C>A (p.Pro252His) c.842C>A (p.Pro281His) c.*136C>A (n.*136C>A) c.93C>A n.1320C>A c.*624C>A (n.*624C>A) c.944C>A (p.Pro315His) c.929C>A (p.Pro310His) c.926C>A (p.Pro309His) c.839C>A (p.Pro280His) c.758C>A (p.Pro253His) c.854C>A (p.Pro285His) c.-227C>A (n.-227C>A) n.1352C>A c.491C>A (p.Pro164His) c.794C>A (p.Pro265His) c.506C>A (p.Pro169His) c.941C>A (p.Pro314His) | |
| 8 | g.71271868G>A | CA371469119 | EYA1 | c.856C>T (p.Pro286Ser) c.754C>T (p.Pro252Ser) c.841C>T (p.Pro281Ser) c.*135C>T (n.*135C>T) c.92C>T n.1319C>T c.*623C>T (n.*623C>T) c.943C>T (p.Pro315Ser) c.928C>T (p.Pro310Ser) c.925C>T (p.Pro309Ser) c.838C>T (p.Pro280Ser) c.757C>T (p.Pro253Ser) c.853C>T (p.Pro285Ser) c.-228C>T (n.-228C>T) n.1351C>T c.490C>T (p.Pro164Ser) c.793C>T (p.Pro265Ser) c.505C>T (p.Pro169Ser) c.940C>T (p.Pro314Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 8 | g.71271868G>C | CA371469120 | EYA1 | c.856C>G (p.Pro286Ala) c.754C>G (p.Pro252Ala) c.841C>G (p.Pro281Ala) c.*135C>G (n.*135C>G) c.92C>G n.1319C>G c.*623C>G (n.*623C>G) c.943C>G (p.Pro315Ala) c.928C>G (p.Pro310Ala) c.925C>G (p.Pro309Ala) c.838C>G (p.Pro280Ala) c.757C>G (p.Pro253Ala) c.853C>G (p.Pro285Ala) c.-228C>G (n.-228C>G) n.1351C>G c.490C>G (p.Pro164Ala) c.793C>G (p.Pro265Ala) c.505C>G (p.Pro169Ala) c.940C>G (p.Pro314Ala) | |
| 8 | g.71271868G= | CA1792716272 | EYA1 | c.856C= (p.Pro286=) c.754C= (p.Pro252=) c.841C= (p.Pro281=) c.*135C= (n.*135C=) c.92C= n.1319C= c.*623C= (n.*623C=) c.943C= (p.Pro315=) c.928C= (p.Pro310=) c.925C= (p.Pro309=) c.838C= (p.Pro280=) c.757C= (p.Pro253=) c.853C= (p.Pro285=) c.-228C= (n.-228C=) n.1351C= c.490C= (p.Pro164=) c.793C= (p.Pro265=) c.505C= (p.Pro169=) c.940C= (p.Pro314=) | |
| 8 | g.71271868G>T | CA371469121 | EYA1 | c.856C>A (p.Pro286Thr) c.754C>A (p.Pro252Thr) c.841C>A (p.Pro281Thr) c.*135C>A (n.*135C>A) c.92C>A n.1319C>A c.*623C>A (n.*623C>A) c.943C>A (p.Pro315Thr) c.928C>A (p.Pro310Thr) c.925C>A (p.Pro309Thr) c.838C>A (p.Pro280Thr) c.757C>A (p.Pro253Thr) c.853C>A (p.Pro285Thr) c.-228C>A (n.-228C>A) n.1351C>A c.490C>A (p.Pro164Thr) c.793C>A (p.Pro265Thr) c.505C>A (p.Pro169Thr) c.940C>A (p.Pro314Thr) | gnomAD v4 |
| 8 | g.71271869T>A | CA461327473 | EYA1 | c.855A>T (p.Thr285=) c.753A>T (p.Thr251=) c.840A>T (p.Thr280=) c.*134A>T (n.*134A>T) c.91A>T n.1318A>T c.*622A>T (n.*622A>T) c.942A>T (p.Thr314=) c.927A>T (p.Thr309=) c.924A>T (p.Thr308=) c.837A>T (p.Thr279=) c.756A>T (p.Thr252=) c.852A>T (p.Thr284=) c.-229A>T (n.-229A>T) n.1350A>T c.489A>T (p.Thr163=) c.792A>T (p.Thr264=) c.504A>T (p.Thr168=) c.939A>T (p.Thr313=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.71271869T>C | CA461327474 | EYA1 | c.855A>G (p.Thr285=) c.753A>G (p.Thr251=) c.840A>G (p.Thr280=) c.*134A>G (n.*134A>G) c.91A>G n.1318A>G c.*622A>G (n.*622A>G) c.942A>G (p.Thr314=) c.927A>G (p.Thr309=) c.924A>G (p.Thr308=) c.837A>G (p.Thr279=) c.756A>G (p.Thr252=) c.852A>G (p.Thr284=) c.-229A>G (n.-229A>G) n.1350A>G c.489A>G (p.Thr163=) c.792A>G (p.Thr264=) c.504A>G (p.Thr168=) c.939A>G (p.Thr313=) | gnomAD v4 |
| 8 | g.71271869T>G | CA461327475 | EYA1 | c.855A>C (p.Thr285=) c.753A>C (p.Thr251=) c.840A>C (p.Thr280=) c.*134A>C (n.*134A>C) c.91A>C n.1318A>C c.*622A>C (n.*622A>C) c.942A>C (p.Thr314=) c.927A>C (p.Thr309=) c.924A>C (p.Thr308=) c.837A>C (p.Thr279=) c.756A>C (p.Thr252=) c.852A>C (p.Thr284=) c.-229A>C (n.-229A>C) n.1350A>C c.489A>C (p.Thr163=) c.792A>C (p.Thr264=) c.504A>C (p.Thr168=) c.939A>C (p.Thr313=) | |
| 8 | g.71271869T= | CA1792716273 | EYA1 | c.855A= (p.Thr285=) c.753A= (p.Thr251=) c.840A= (p.Thr280=) c.*134A= (n.*134A=) c.91A= n.1318A= c.*622A= (n.*622A=) c.942A= (p.Thr314=) c.927A= (p.Thr309=) c.924A= (p.Thr308=) c.837A= (p.Thr279=) c.756A= (p.Thr252=) c.852A= (p.Thr284=) c.-229A= (n.-229A=) n.1350A= c.489A= (p.Thr163=) c.792A= (p.Thr264=) c.504A= (p.Thr168=) c.939A= (p.Thr313=) | |
| 8 | g.71271870G>A | CA371469124 | EYA1 | c.854C>T (p.Thr285Ile) c.752C>T (p.Thr251Ile) c.839C>T (p.Thr280Ile) c.*133C>T (n.*133C>T) c.90C>T n.1317C>T c.*621C>T (n.*621C>T) c.941C>T (p.Thr314Ile) c.926C>T (p.Thr309Ile) c.923C>T (p.Thr308Ile) c.836C>T (p.Thr279Ile) c.755C>T (p.Thr252Ile) c.851C>T (p.Thr284Ile) c.-230C>T (n.-230C>T) n.1349C>T c.488C>T (p.Thr163Ile) c.791C>T (p.Thr264Ile) c.503C>T (p.Thr168Ile) c.938C>T (p.Thr313Ile) | dbSNP gnomAD v4 |
| 8 | g.71271870G>C | CA371469122 | EYA1 | c.854C>G (p.Thr285Arg) c.752C>G (p.Thr251Arg) c.839C>G (p.Thr280Arg) c.*133C>G (n.*133C>G) c.90C>G n.1317C>G c.*621C>G (n.*621C>G) c.941C>G (p.Thr314Arg) c.926C>G (p.Thr309Arg) c.923C>G (p.Thr308Arg) c.836C>G (p.Thr279Arg) c.755C>G (p.Thr252Arg) c.851C>G (p.Thr284Arg) c.-230C>G (n.-230C>G) n.1349C>G c.488C>G (p.Thr163Arg) c.791C>G (p.Thr264Arg) c.503C>G (p.Thr168Arg) c.938C>G (p.Thr313Arg) | |
| 8 | g.71271870G= | CA1792716274 | EYA1 | c.854C= (p.Thr285=) c.752C= (p.Thr251=) c.839C= (p.Thr280=) c.*133C= (n.*133C=) c.90C= n.1317C= c.*621C= (n.*621C=) c.941C= (p.Thr314=) c.926C= (p.Thr309=) c.923C= (p.Thr308=) c.836C= (p.Thr279=) c.755C= (p.Thr252=) c.851C= (p.Thr284=) c.-230C= (n.-230C=) n.1349C= c.488C= (p.Thr163=) c.791C= (p.Thr264=) c.503C= (p.Thr168=) c.938C= (p.Thr313=) | |
| 8 | g.71271870G>T | CA371469123 | EYA1 | c.854C>A (p.Thr285Lys) c.752C>A (p.Thr251Lys) c.839C>A (p.Thr280Lys) c.*133C>A (n.*133C>A) c.90C>A n.1317C>A c.*621C>A (n.*621C>A) c.941C>A (p.Thr314Lys) c.926C>A (p.Thr309Lys) c.923C>A (p.Thr308Lys) c.836C>A (p.Thr279Lys) c.755C>A (p.Thr252Lys) c.851C>A (p.Thr284Lys) c.-230C>A (n.-230C>A) n.1349C>A c.488C>A (p.Thr163Lys) c.791C>A (p.Thr264Lys) c.503C>A (p.Thr168Lys) c.938C>A (p.Thr313Lys) | |
| 8 | g.71271870dup | CA2695209835 | EYA1 | c.854dup (p.Pro286ThrfsTer3) c.752dup (p.Pro252ThrfsTer3) c.839dup (p.Pro281ThrfsTer3) c.*133dup (n.*133dup) c.90dup n.1317dup c.*621dup (n.*621dup) c.941dup (p.Pro315ThrfsTer3) c.926dup (p.Pro310ThrfsTer3) c.923dup (p.Pro309ThrfsTer3) c.836dup (p.Pro280ThrfsTer3) c.755dup (p.Pro253ThrfsTer3) c.851dup (p.Pro285ThrfsTer3) c.-230dup (n.-230dup) n.1349dup c.488dup (p.Pro164ThrfsTer3) c.791dup (p.Pro265ThrfsTer3) c.503dup (p.Pro169ThrfsTer3) c.938dup (p.Pro314ThrfsTer3) | |
| 8 | g.71271871T>A | CA4779641 | EYA1 | c.853A>T (p.Thr285Ser) c.751A>T (p.Thr251Ser) c.838A>T (p.Thr280Ser) c.*132A>T (n.*132A>T) c.89A>T n.1316A>T c.*620A>T (n.*620A>T) c.940A>T (p.Thr314Ser) c.925A>T (p.Thr309Ser) c.922A>T (p.Thr308Ser) c.835A>T (p.Thr279Ser) c.754A>T (p.Thr252Ser) c.850A>T (p.Thr284Ser) c.-231A>T (n.-231A>T) n.1348A>T c.487A>T (p.Thr163Ser) c.790A>T (p.Thr264Ser) c.502A>T (p.Thr168Ser) c.937A>T (p.Thr313Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.71271871T>C | CA4779642 | EYA1 | c.853A>G (p.Thr285Ala) c.751A>G (p.Thr251Ala) c.838A>G (p.Thr280Ala) c.*132A>G (n.*132A>G) c.89A>G n.1316A>G c.*620A>G (n.*620A>G) c.940A>G (p.Thr314Ala) c.925A>G (p.Thr309Ala) c.922A>G (p.Thr308Ala) c.835A>G (p.Thr279Ala) c.754A>G (p.Thr252Ala) c.850A>G (p.Thr284Ala) c.-231A>G (n.-231A>G) n.1348A>G c.487A>G (p.Thr163Ala) c.790A>G (p.Thr264Ala) c.502A>G (p.Thr168Ala) c.937A>G (p.Thr313Ala) | dbSNP ExAC gnomAD v4 |
| 8 | g.71271871T>G | CA371469125 | EYA1 | c.853A>C (p.Thr285Pro) c.751A>C (p.Thr251Pro) c.838A>C (p.Thr280Pro) c.*132A>C (n.*132A>C) c.89A>C n.1316A>C c.*620A>C (n.*620A>C) c.940A>C (p.Thr314Pro) c.925A>C (p.Thr309Pro) c.922A>C (p.Thr308Pro) c.835A>C (p.Thr279Pro) c.754A>C (p.Thr252Pro) c.850A>C (p.Thr284Pro) c.-231A>C (n.-231A>C) n.1348A>C c.487A>C (p.Thr163Pro) c.790A>C (p.Thr264Pro) c.502A>C (p.Thr168Pro) c.937A>C (p.Thr313Pro) | |
| 8 | g.71271871T= | CA1792716275 | EYA1 | c.853A= (p.Thr285=) c.751A= (p.Thr251=) c.838A= (p.Thr280=) c.*132A= (n.*132A=) c.89A= n.1316A= c.*620A= (n.*620A=) c.940A= (p.Thr314=) c.925A= (p.Thr309=) c.922A= (p.Thr308=) c.835A= (p.Thr279=) c.754A= (p.Thr252=) c.850A= (p.Thr284=) c.-231A= (n.-231A=) n.1348A= c.487A= (p.Thr163=) c.790A= (p.Thr264=) c.502A= (p.Thr168=) c.937A= (p.Thr313=) | |
| 8 | g.71271872T>A | CA461327476 | EYA1 | c.852A>T (p.Ser284=) c.750A>T (p.Ser250=) c.837A>T (p.Ser279=) c.*131A>T (n.*131A>T) c.88A>T n.1315A>T c.*619A>T (n.*619A>T) c.939A>T (p.Ser313=) c.924A>T (p.Ser308=) c.921A>T (p.Ser307=) c.834A>T (p.Ser278=) c.753A>T (p.Ser251=) c.849A>T (p.Ser283=) c.-232A>T (n.-232A>T) n.1347A>T c.486A>T (p.Ser162=) c.789A>T (p.Ser263=) c.501A>T (p.Ser167=) c.936A>T (p.Ser312=) | |
| 8 | g.71271872T>C | CA4779643 | EYA1 | c.852A>G (p.Ser284=) c.750A>G (p.Ser250=) c.837A>G (p.Ser279=) c.*131A>G (n.*131A>G) c.88A>G n.1315A>G c.*619A>G (n.*619A>G) c.939A>G (p.Ser313=) c.924A>G (p.Ser308=) c.921A>G (p.Ser307=) c.834A>G (p.Ser278=) c.753A>G (p.Ser251=) c.849A>G (p.Ser283=) c.-232A>G (n.-232A>G) n.1347A>G c.486A>G (p.Ser162=) c.789A>G (p.Ser263=) c.501A>G (p.Ser167=) c.936A>G (p.Ser312=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.71271872T>G | CA461327477 | EYA1 | c.852A>C (p.Ser284=) c.750A>C (p.Ser250=) c.837A>C (p.Ser279=) c.*131A>C (n.*131A>C) c.88A>C n.1315A>C c.*619A>C (n.*619A>C) c.939A>C (p.Ser313=) c.924A>C (p.Ser308=) c.921A>C (p.Ser307=) c.834A>C (p.Ser278=) c.753A>C (p.Ser251=) c.849A>C (p.Ser283=) c.-232A>C (n.-232A>C) n.1347A>C c.486A>C (p.Ser162=) c.789A>C (p.Ser263=) c.501A>C (p.Ser167=) c.936A>C (p.Ser312=) | gnomAD v4 |
| 8 | g.71271872T= | CA1792716276 | EYA1 | c.852A= (p.Ser284=) c.750A= (p.Ser250=) c.837A= (p.Ser279=) c.*131A= (n.*131A=) c.88A= n.1315A= c.*619A= (n.*619A=) c.939A= (p.Ser313=) c.924A= (p.Ser308=) c.921A= (p.Ser307=) c.834A= (p.Ser278=) c.753A= (p.Ser251=) c.849A= (p.Ser283=) c.-232A= (n.-232A=) n.1347A= c.486A= (p.Ser162=) c.789A= (p.Ser263=) c.501A= (p.Ser167=) c.936A= (p.Ser312=) | |
| 8 | g.71271874_71271881del | CA2580617180 | EYA1 | c.845_852del (p.Ser282AsnfsTer4) c.743_750del (p.Ser248AsnfsTer4) c.830_837del (p.Ser277AsnfsTer4) c.*124_*131del (n.*124_*131del) c.81_88del n.1308_1315del c.*612_*619del (n.*612_*619del) c.932_939del (p.Ser311AsnfsTer4) c.917_924del (p.Ser306AsnfsTer4) c.914_921del (p.Ser305AsnfsTer4) c.827_834del (p.Ser276AsnfsTer4) c.746_753del (p.Ser249AsnfsTer4) c.842_849del (p.Ser281AsnfsTer4) c.-239_-232del (n.-239_-232del) n.1340_1347del c.479_486del (p.Ser160AsnfsTer4) c.782_789del (p.Ser261AsnfsTer4) c.494_501del (p.Ser165AsnfsTer4) c.929_936del (p.Ser310AsnfsTer4) | ClinVar |
| 8 | g.71271873G>A | CA371469126 | EYA1 | c.851C>T (p.Ser284Leu) c.749C>T (p.Ser250Leu) c.836C>T (p.Ser279Leu) c.*130C>T (n.*130C>T) c.87C>T n.1314C>T c.*618C>T (n.*618C>T) c.938C>T (p.Ser313Leu) c.923C>T (p.Ser308Leu) c.920C>T (p.Ser307Leu) c.833C>T (p.Ser278Leu) c.752C>T (p.Ser251Leu) c.848C>T (p.Ser283Leu) c.-233C>T (n.-233C>T) n.1346C>T c.485C>T (p.Ser162Leu) c.788C>T (p.Ser263Leu) c.500C>T (p.Ser167Leu) c.935C>T (p.Ser312Leu) | |
| 8 | g.71271873G>C | CA371469127 | EYA1 | c.851C>G (p.Ser284Ter) c.749C>G (p.Ser250Ter) c.836C>G (p.Ser279Ter) c.*130C>G (n.*130C>G) c.87C>G n.1314C>G c.*618C>G (n.*618C>G) c.938C>G (p.Ser313Ter) c.923C>G (p.Ser308Ter) c.920C>G (p.Ser307Ter) c.833C>G (p.Ser278Ter) c.752C>G (p.Ser251Ter) c.848C>G (p.Ser283Ter) c.-233C>G (n.-233C>G) n.1346C>G c.485C>G (p.Ser162Ter) c.788C>G (p.Ser263Ter) c.500C>G (p.Ser167Ter) c.935C>G (p.Ser312Ter) | |
| 8 | g.71271873G>T | CA371469128 | EYA1 | c.851C>A (p.Ser284Ter) c.749C>A (p.Ser250Ter) c.836C>A (p.Ser279Ter) c.*130C>A (n.*130C>A) c.87C>A n.1314C>A c.*618C>A (n.*618C>A) c.938C>A (p.Ser313Ter) c.923C>A (p.Ser308Ter) c.920C>A (p.Ser307Ter) c.833C>A (p.Ser278Ter) c.752C>A (p.Ser251Ter) c.848C>A (p.Ser283Ter) c.-233C>A (n.-233C>A) n.1346C>A c.485C>A (p.Ser162Ter) c.788C>A (p.Ser263Ter) c.500C>A (p.Ser167Ter) c.935C>A (p.Ser312Ter) | COSMIC COSMIC |
| 8 | g.71271874A>C | CA371469129 | EYA1 | c.850T>G (p.Ser284Ala) c.748T>G (p.Ser250Ala) c.835T>G (p.Ser279Ala) c.*129T>G (n.*129T>G) c.86T>G n.1313T>G c.*617T>G (n.*617T>G) c.937T>G (p.Ser313Ala) c.922T>G (p.Ser308Ala) c.919T>G (p.Ser307Ala) c.832T>G (p.Ser278Ala) c.751T>G (p.Ser251Ala) c.847T>G (p.Ser283Ala) c.-234T>G (n.-234T>G) n.1345T>G c.484T>G (p.Ser162Ala) c.787T>G (p.Ser263Ala) c.499T>G (p.Ser167Ala) c.934T>G (p.Ser312Ala) | |
| 8 | g.71271874A>G | CA371469130 | EYA1 | c.850T>C (p.Ser284Pro) c.748T>C (p.Ser250Pro) c.835T>C (p.Ser279Pro) c.*129T>C (n.*129T>C) c.86T>C n.1313T>C c.*617T>C (n.*617T>C) c.937T>C (p.Ser313Pro) c.922T>C (p.Ser308Pro) c.919T>C (p.Ser307Pro) c.832T>C (p.Ser278Pro) c.751T>C (p.Ser251Pro) c.847T>C (p.Ser283Pro) c.-234T>C (n.-234T>C) n.1345T>C c.484T>C (p.Ser162Pro) c.787T>C (p.Ser263Pro) c.499T>C (p.Ser167Pro) c.934T>C (p.Ser312Pro) | |
| 8 | g.71271874A>T | CA371469131 | EYA1 | c.850T>A (p.Ser284Thr) c.748T>A (p.Ser250Thr) c.835T>A (p.Ser279Thr) c.*129T>A (n.*129T>A) c.86T>A n.1313T>A c.*617T>A (n.*617T>A) c.937T>A (p.Ser313Thr) c.922T>A (p.Ser308Thr) c.919T>A (p.Ser307Thr) c.832T>A (p.Ser278Thr) c.751T>A (p.Ser251Thr) c.847T>A (p.Ser283Thr) c.-234T>A (n.-234T>A) n.1345T>A c.484T>A (p.Ser162Thr) c.787T>A (p.Ser263Thr) c.499T>A (p.Ser167Thr) c.934T>A (p.Ser312Thr) | |
| 8 | g.71271875T>A | CA461327478 | EYA1 | c.849A>T (p.Pro283=) c.747A>T (p.Pro249=) c.834A>T (p.Pro278=) c.*128A>T (n.*128A>T) c.85A>T n.1312A>T c.*616A>T (n.*616A>T) c.936A>T (p.Pro312=) c.921A>T (p.Pro307=) c.918A>T (p.Pro306=) c.831A>T (p.Pro277=) c.750A>T (p.Pro250=) c.846A>T (p.Pro282=) c.-235A>T (n.-235A>T) n.1344A>T c.483A>T (p.Pro161=) c.786A>T (p.Pro262=) c.498A>T (p.Pro166=) c.933A>T (p.Pro311=) | |
| 8 | g.71271875T>C | CA461327479 | EYA1 | c.849A>G (p.Pro283=) c.747A>G (p.Pro249=) c.834A>G (p.Pro278=) c.*128A>G (n.*128A>G) c.85A>G n.1312A>G c.*616A>G (n.*616A>G) c.936A>G (p.Pro312=) c.921A>G (p.Pro307=) c.918A>G (p.Pro306=) c.831A>G (p.Pro277=) c.750A>G (p.Pro250=) c.846A>G (p.Pro282=) c.-235A>G (n.-235A>G) n.1344A>G c.483A>G (p.Pro161=) c.786A>G (p.Pro262=) c.498A>G (p.Pro166=) c.933A>G (p.Pro311=) | gnomAD v4 |
| 8 | g.71271875T>G | CA461327480 | EYA1 | c.849A>C (p.Pro283=) c.747A>C (p.Pro249=) c.834A>C (p.Pro278=) c.*128A>C (n.*128A>C) c.85A>C n.1312A>C c.*616A>C (n.*616A>C) c.936A>C (p.Pro312=) c.921A>C (p.Pro307=) c.918A>C (p.Pro306=) c.831A>C (p.Pro277=) c.750A>C (p.Pro250=) c.846A>C (p.Pro282=) c.-235A>C (n.-235A>C) n.1344A>C c.483A>C (p.Pro161=) c.786A>C (p.Pro262=) c.498A>C (p.Pro166=) c.933A>C (p.Pro311=) | |
| 8 | g.71271876G>A | CA179250736 | EYA1 | c.848C>T (p.Pro283Leu) c.746C>T (p.Pro249Leu) c.833C>T (p.Pro278Leu) c.*127C>T (n.*127C>T) c.84C>T n.1311C>T c.*615C>T (n.*615C>T) c.935C>T (p.Pro312Leu) c.920C>T (p.Pro307Leu) c.917C>T (p.Pro306Leu) c.830C>T (p.Pro277Leu) c.749C>T (p.Pro250Leu) c.845C>T (p.Pro282Leu) c.-236C>T (n.-236C>T) n.1343C>T c.482C>T (p.Pro161Leu) c.785C>T (p.Pro262Leu) c.497C>T (p.Pro166Leu) c.932C>T (p.Pro311Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.71271876G>C | CA371469132 | EYA1 | c.848C>G (p.Pro283Arg) c.746C>G (p.Pro249Arg) c.833C>G (p.Pro278Arg) c.*127C>G (n.*127C>G) c.84C>G n.1311C>G c.*615C>G (n.*615C>G) c.935C>G (p.Pro312Arg) c.920C>G (p.Pro307Arg) c.917C>G (p.Pro306Arg) c.830C>G (p.Pro277Arg) c.749C>G (p.Pro250Arg) c.845C>G (p.Pro282Arg) c.-236C>G (n.-236C>G) n.1343C>G c.482C>G (p.Pro161Arg) c.785C>G (p.Pro262Arg) c.497C>G (p.Pro166Arg) c.932C>G (p.Pro311Arg) | |
| 8 | g.71271876G= | CA1792716277 | EYA1 | c.848C= (p.Pro283=) c.746C= (p.Pro249=) c.833C= (p.Pro278=) c.*127C= (n.*127C=) c.84C= n.1311C= c.*615C= (n.*615C=) c.935C= (p.Pro312=) c.920C= (p.Pro307=) c.917C= (p.Pro306=) c.830C= (p.Pro277=) c.749C= (p.Pro250=) c.845C= (p.Pro282=) c.-236C= (n.-236C=) n.1343C= c.482C= (p.Pro161=) c.785C= (p.Pro262=) c.497C= (p.Pro166=) c.932C= (p.Pro311=) | |
| 8 | g.71271876G>T | CA371469133 | EYA1 | c.848C>A (p.Pro283Gln) c.746C>A (p.Pro249Gln) c.833C>A (p.Pro278Gln) c.*127C>A (n.*127C>A) c.84C>A n.1311C>A c.*615C>A (n.*615C>A) c.935C>A (p.Pro312Gln) c.920C>A (p.Pro307Gln) c.917C>A (p.Pro306Gln) c.830C>A (p.Pro277Gln) c.749C>A (p.Pro250Gln) c.845C>A (p.Pro282Gln) c.-236C>A (n.-236C>A) n.1343C>A c.482C>A (p.Pro161Gln) c.785C>A (p.Pro262Gln) c.497C>A (p.Pro166Gln) c.932C>A (p.Pro311Gln) | |
| 8 | g.71271877G>A | CA371469135 | EYA1 | c.847C>T (p.Pro283Ser) c.745C>T (p.Pro249Ser) c.832C>T (p.Pro278Ser) c.*126C>T (n.*126C>T) c.83C>T n.1310C>T c.*614C>T (n.*614C>T) c.934C>T (p.Pro312Ser) c.919C>T (p.Pro307Ser) c.916C>T (p.Pro306Ser) c.829C>T (p.Pro277Ser) c.748C>T (p.Pro250Ser) c.844C>T (p.Pro282Ser) c.-237C>T (n.-237C>T) n.1342C>T c.481C>T (p.Pro161Ser) c.784C>T (p.Pro262Ser) c.496C>T (p.Pro166Ser) c.931C>T (p.Pro311Ser) | |
| 8 | g.71271877G>C | CA371469136 | EYA1 | c.847C>G (p.Pro283Ala) c.745C>G (p.Pro249Ala) c.832C>G (p.Pro278Ala) c.*126C>G (n.*126C>G) c.83C>G n.1310C>G c.*614C>G (n.*614C>G) c.934C>G (p.Pro312Ala) c.919C>G (p.Pro307Ala) c.916C>G (p.Pro306Ala) c.829C>G (p.Pro277Ala) c.748C>G (p.Pro250Ala) c.844C>G (p.Pro282Ala) c.-237C>G (n.-237C>G) n.1342C>G c.481C>G (p.Pro161Ala) c.784C>G (p.Pro262Ala) c.496C>G (p.Pro166Ala) c.931C>G (p.Pro311Ala) | |
| 8 | g.71271877G>T | CA371469134 | EYA1 | c.847C>A (p.Pro283Thr) c.745C>A (p.Pro249Thr) c.832C>A (p.Pro278Thr) c.*126C>A (n.*126C>A) c.83C>A n.1310C>A c.*614C>A (n.*614C>A) c.934C>A (p.Pro312Thr) c.919C>A (p.Pro307Thr) c.916C>A (p.Pro306Thr) c.829C>A (p.Pro277Thr) c.748C>A (p.Pro250Thr) c.844C>A (p.Pro282Thr) c.-237C>A (n.-237C>A) n.1342C>A c.481C>A (p.Pro161Thr) c.784C>A (p.Pro262Thr) c.496C>A (p.Pro166Thr) c.931C>A (p.Pro311Thr) | |
| 8 | g.71271878G>A | CA461327481 | EYA1 | c.846C>T (p.Ser282=) c.744C>T (p.Ser248=) c.831C>T (p.Ser277=) c.*125C>T (n.*125C>T) c.82C>T n.1309C>T c.*613C>T (n.*613C>T) c.933C>T (p.Ser311=) c.918C>T (p.Ser306=) c.915C>T (p.Ser305=) c.828C>T (p.Ser276=) c.747C>T (p.Ser249=) c.843C>T (p.Ser281=) c.-238C>T (n.-238C>T) n.1341C>T c.480C>T (p.Ser160=) c.783C>T (p.Ser261=) c.495C>T (p.Ser165=) c.930C>T (p.Ser310=) | |
| 8 | g.71271878G>C | CA371469138 | EYA1 | c.846C>G (p.Ser282Arg) c.744C>G (p.Ser248Arg) c.831C>G (p.Ser277Arg) c.*125C>G (n.*125C>G) c.82C>G n.1309C>G c.*613C>G (n.*613C>G) c.933C>G (p.Ser311Arg) c.918C>G (p.Ser306Arg) c.915C>G (p.Ser305Arg) c.828C>G (p.Ser276Arg) c.747C>G (p.Ser249Arg) c.843C>G (p.Ser281Arg) c.-238C>G (n.-238C>G) n.1341C>G c.480C>G (p.Ser160Arg) c.783C>G (p.Ser261Arg) c.495C>G (p.Ser165Arg) c.930C>G (p.Ser310Arg) | gnomAD v4 |
| 8 | g.71271878G>T | CA371469137 | EYA1 | c.846C>A (p.Ser282Arg) c.744C>A (p.Ser248Arg) c.831C>A (p.Ser277Arg) c.*125C>A (n.*125C>A) c.82C>A n.1309C>A c.*613C>A (n.*613C>A) c.933C>A (p.Ser311Arg) c.918C>A (p.Ser306Arg) c.915C>A (p.Ser305Arg) c.828C>A (p.Ser276Arg) c.747C>A (p.Ser249Arg) c.843C>A (p.Ser281Arg) c.-238C>A (n.-238C>A) n.1341C>A c.480C>A (p.Ser160Arg) c.783C>A (p.Ser261Arg) c.495C>A (p.Ser165Arg) c.930C>A (p.Ser310Arg) | |
| 8 | g.71271879C>A | CA371469140 | EYA1 | c.845G>T (p.Ser282Ile) c.743G>T (p.Ser248Ile) c.830G>T (p.Ser277Ile) c.*124G>T (n.*124G>T) c.81G>T n.1308G>T c.*612G>T (n.*612G>T) c.932G>T (p.Ser311Ile) c.917G>T (p.Ser306Ile) c.914G>T (p.Ser305Ile) c.827G>T (p.Ser276Ile) c.746G>T (p.Ser249Ile) c.842G>T (p.Ser281Ile) c.-239G>T (n.-239G>T) n.1340G>T c.479G>T (p.Ser160Ile) c.782G>T (p.Ser261Ile) c.494G>T (p.Ser165Ile) c.929G>T (p.Ser310Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.71271879C= | CA1792716278 | EYA1 | c.845G= (p.Ser282=) c.743G= (p.Ser248=) c.830G= (p.Ser277=) c.*124G= (n.*124G=) c.81G= n.1308G= c.*612G= (n.*612G=) c.932G= (p.Ser311=) c.917G= (p.Ser306=) c.914G= (p.Ser305=) c.827G= (p.Ser276=) c.746G= (p.Ser249=) c.842G= (p.Ser281=) c.-239G= (n.-239G=) n.1340G= c.479G= (p.Ser160=) c.782G= (p.Ser261=) c.494G= (p.Ser165=) c.929G= (p.Ser310=) | |
| 8 | g.71271879C>G | CA371469139 | EYA1 | c.845G>C (p.Ser282Thr) c.743G>C (p.Ser248Thr) c.830G>C (p.Ser277Thr) c.*124G>C (n.*124G>C) c.81G>C n.1308G>C c.*612G>C (n.*612G>C) c.932G>C (p.Ser311Thr) c.917G>C (p.Ser306Thr) c.914G>C (p.Ser305Thr) c.827G>C (p.Ser276Thr) c.746G>C (p.Ser249Thr) c.842G>C (p.Ser281Thr) c.-239G>C (n.-239G>C) n.1340G>C c.479G>C (p.Ser160Thr) c.782G>C (p.Ser261Thr) c.494G>C (p.Ser165Thr) c.929G>C (p.Ser310Thr) | |
| 8 | g.71271879C>T | CA371469141 | EYA1 | c.845G>A (p.Ser282Asn) c.743G>A (p.Ser248Asn) c.830G>A (p.Ser277Asn) c.*124G>A (n.*124G>A) c.81G>A n.1308G>A c.*612G>A (n.*612G>A) c.932G>A (p.Ser311Asn) c.917G>A (p.Ser306Asn) c.914G>A (p.Ser305Asn) c.827G>A (p.Ser276Asn) c.746G>A (p.Ser249Asn) c.842G>A (p.Ser281Asn) c.-239G>A (n.-239G>A) n.1340G>A c.479G>A (p.Ser160Asn) c.782G>A (p.Ser261Asn) c.494G>A (p.Ser165Asn) c.929G>A (p.Ser310Asn) | |
| 8 | g.71271880T>A | CA371469142 | EYA1 | c.844A>T (p.Ser282Cys) c.742A>T (p.Ser248Cys) c.829A>T (p.Ser277Cys) c.*123A>T (n.*123A>T) c.80A>T n.1307A>T c.*611A>T (n.*611A>T) c.931A>T (p.Ser311Cys) c.916A>T (p.Ser306Cys) c.913A>T (p.Ser305Cys) c.826A>T (p.Ser276Cys) c.745A>T (p.Ser249Cys) c.841A>T (p.Ser281Cys) c.-240A>T (n.-240A>T) n.1339A>T c.478A>T (p.Ser160Cys) c.781A>T (p.Ser261Cys) c.493A>T (p.Ser165Cys) c.928A>T (p.Ser310Cys) | |
| 8 | g.71271880T>C | CA371469144 | EYA1 | c.844A>G (p.Ser282Gly) c.742A>G (p.Ser248Gly) c.829A>G (p.Ser277Gly) c.*123A>G (n.*123A>G) c.80A>G n.1307A>G c.*611A>G (n.*611A>G) c.931A>G (p.Ser311Gly) c.916A>G (p.Ser306Gly) c.913A>G (p.Ser305Gly) c.826A>G (p.Ser276Gly) c.745A>G (p.Ser249Gly) c.841A>G (p.Ser281Gly) c.-240A>G (n.-240A>G) n.1339A>G c.478A>G (p.Ser160Gly) c.781A>G (p.Ser261Gly) c.493A>G (p.Ser165Gly) c.928A>G (p.Ser310Gly) | |
| 8 | g.71271880T>G | CA371469143 | EYA1 | c.844A>C (p.Ser282Arg) c.742A>C (p.Ser248Arg) c.829A>C (p.Ser277Arg) c.*123A>C (n.*123A>C) c.80A>C n.1307A>C c.*611A>C (n.*611A>C) c.931A>C (p.Ser311Arg) c.916A>C (p.Ser306Arg) c.913A>C (p.Ser305Arg) c.826A>C (p.Ser276Arg) c.745A>C (p.Ser249Arg) c.841A>C (p.Ser281Arg) c.-240A>C (n.-240A>C) n.1339A>C c.478A>C (p.Ser160Arg) c.781A>C (p.Ser261Arg) c.493A>C (p.Ser165Arg) c.928A>C (p.Ser310Arg) | |
| 8 | g.71271881G>A | CA461327482 | EYA1 | c.843C>T (p.His281=) c.741C>T (p.His247=) c.828C>T (p.His276=) c.*122C>T (n.*122C>T) c.79C>T n.1306C>T c.*610C>T (n.*610C>T) c.930C>T (p.His310=) c.915C>T (p.His305=) c.912C>T (p.His304=) c.825C>T (p.His275=) c.744C>T (p.His248=) c.840C>T (p.His280=) c.-241C>T (n.-241C>T) n.1338C>T c.477C>T (p.His159=) c.780C>T (p.His260=) c.492C>T (p.His164=) c.927C>T (p.His309=) | |
| 8 | g.71271881G>C | CA371469145 | EYA1 | c.843C>G (p.His281Gln) c.741C>G (p.His247Gln) c.828C>G (p.His276Gln) c.*122C>G (n.*122C>G) c.79C>G n.1306C>G c.*610C>G (n.*610C>G) c.930C>G (p.His310Gln) c.915C>G (p.His305Gln) c.912C>G (p.His304Gln) c.825C>G (p.His275Gln) c.744C>G (p.His248Gln) c.840C>G (p.His280Gln) c.-241C>G (n.-241C>G) n.1338C>G c.477C>G (p.His159Gln) c.780C>G (p.His260Gln) c.492C>G (p.His164Gln) c.927C>G (p.His309Gln) | |
| 8 | g.71271881G>T | CA371469146 | EYA1 | c.843C>A (p.His281Gln) c.741C>A (p.His247Gln) c.828C>A (p.His276Gln) c.*122C>A (n.*122C>A) c.79C>A n.1306C>A c.*610C>A (n.*610C>A) c.930C>A (p.His310Gln) c.915C>A (p.His305Gln) c.912C>A (p.His304Gln) c.825C>A (p.His275Gln) c.744C>A (p.His248Gln) c.840C>A (p.His280Gln) c.-241C>A (n.-241C>A) n.1338C>A c.477C>A (p.His159Gln) c.780C>A (p.His260Gln) c.492C>A (p.His164Gln) c.927C>A (p.His309Gln) | |
| 8 | g.71271882T>A | CA371469147 | EYA1 | c.842A>T (p.His281Leu) c.740A>T (p.His247Leu) c.827A>T (p.His276Leu) c.*121A>T (n.*121A>T) c.78A>T n.1305A>T c.*609A>T (n.*609A>T) c.929A>T (p.His310Leu) c.914A>T (p.His305Leu) c.911A>T (p.His304Leu) c.824A>T (p.His275Leu) c.743A>T (p.His248Leu) c.839A>T (p.His280Leu) c.-242A>T (n.-242A>T) n.1337A>T c.476A>T (p.His159Leu) c.779A>T (p.His260Leu) c.491A>T (p.His164Leu) c.926A>T (p.His309Leu) | |
| 8 | g.71271882T>C | CA371469148 | EYA1 | c.842A>G (p.His281Arg) c.740A>G (p.His247Arg) c.827A>G (p.His276Arg) c.*121A>G (n.*121A>G) c.78A>G n.1305A>G c.*609A>G (n.*609A>G) c.929A>G (p.His310Arg) c.914A>G (p.His305Arg) c.911A>G (p.His304Arg) c.824A>G (p.His275Arg) c.743A>G (p.His248Arg) c.839A>G (p.His280Arg) c.-242A>G (n.-242A>G) n.1337A>G c.476A>G (p.His159Arg) c.779A>G (p.His260Arg) c.491A>G (p.His164Arg) c.926A>G (p.His309Arg) | |
| 8 | g.71271882T>G | CA371469149 | EYA1 | c.842A>C (p.His281Pro) c.740A>C (p.His247Pro) c.827A>C (p.His276Pro) c.*121A>C (n.*121A>C) c.78A>C n.1305A>C c.*609A>C (n.*609A>C) c.929A>C (p.His310Pro) c.914A>C (p.His305Pro) c.911A>C (p.His304Pro) c.824A>C (p.His275Pro) c.743A>C (p.His248Pro) c.839A>C (p.His280Pro) c.-242A>C (n.-242A>C) n.1337A>C c.476A>C (p.His159Pro) c.779A>C (p.His260Pro) c.491A>C (p.His164Pro) c.926A>C (p.His309Pro) | |
| 8 | g.71271883G>A | CA371469150 | EYA1 | c.841C>T (p.His281Tyr) c.739C>T (p.His247Tyr) c.826C>T (p.His276Tyr) c.*120C>T (n.*120C>T) c.77C>T n.1304C>T c.*608C>T (n.*608C>T) c.928C>T (p.His310Tyr) c.913C>T (p.His305Tyr) c.910C>T (p.His304Tyr) c.823C>T (p.His275Tyr) c.742C>T (p.His248Tyr) c.838C>T (p.His280Tyr) c.-243C>T (n.-243C>T) n.1336C>T c.475C>T (p.His159Tyr) c.778C>T (p.His260Tyr) c.490C>T (p.His164Tyr) c.925C>T (p.His309Tyr) | |
| 8 | g.71271883G>C | CA371469151 | EYA1 | c.841C>G (p.His281Asp) c.739C>G (p.His247Asp) c.826C>G (p.His276Asp) c.*120C>G (n.*120C>G) c.77C>G n.1304C>G c.*608C>G (n.*608C>G) c.928C>G (p.His310Asp) c.913C>G (p.His305Asp) c.910C>G (p.His304Asp) c.823C>G (p.His275Asp) c.742C>G (p.His248Asp) c.838C>G (p.His280Asp) c.-243C>G (n.-243C>G) n.1336C>G c.475C>G (p.His159Asp) c.778C>G (p.His260Asp) c.490C>G (p.His164Asp) c.925C>G (p.His309Asp) | |
| 8 | g.71271883G>T | CA371469152 | EYA1 | c.841C>A (p.His281Asn) c.739C>A (p.His247Asn) c.826C>A (p.His276Asn) c.*120C>A (n.*120C>A) c.77C>A n.1304C>A c.*608C>A (n.*608C>A) c.928C>A (p.His310Asn) c.913C>A (p.His305Asn) c.910C>A (p.His304Asn) c.823C>A (p.His275Asn) c.742C>A (p.His248Asn) c.838C>A (p.His280Asn) c.-243C>A (n.-243C>A) n.1336C>A c.475C>A (p.His159Asn) c.778C>A (p.His260Asn) c.490C>A (p.His164Asn) c.925C>A (p.His309Asn) | |
| 8 | g.71271884G>A | CA461327483 | EYA1 | c.840C>T (p.Ile280=) c.738C>T (p.Ile246=) c.825C>T (p.Ile275=) c.*119C>T (n.*119C>T) c.76C>T n.1303C>T c.*607C>T (n.*607C>T) c.927C>T (p.Ile309=) c.912C>T (p.Ile304=) c.909C>T (p.Ile303=) c.822C>T (p.Ile274=) c.741C>T (p.Ile247=) c.837C>T (p.Ile279=) c.-244C>T (n.-244C>T) n.1335C>T c.474C>T (p.Ile158=) c.777C>T (p.Ile259=) c.489C>T (p.Ile163=) c.924C>T (p.Ile308=) | |
| 8 | g.71271884G>C | CA371469153 | EYA1 | c.840C>G (p.Ile280Met) c.738C>G (p.Ile246Met) c.825C>G (p.Ile275Met) c.*119C>G (n.*119C>G) c.76C>G n.1303C>G c.*607C>G (n.*607C>G) c.927C>G (p.Ile309Met) c.912C>G (p.Ile304Met) c.909C>G (p.Ile303Met) c.822C>G (p.Ile274Met) c.741C>G (p.Ile247Met) c.837C>G (p.Ile279Met) c.-244C>G (n.-244C>G) n.1335C>G c.474C>G (p.Ile158Met) c.777C>G (p.Ile259Met) c.489C>G (p.Ile163Met) c.924C>G (p.Ile308Met) | |
| 8 | g.71271884G= | CA1792716279 | EYA1 | c.840C= (p.Ile280=) c.738C= (p.Ile246=) c.825C= (p.Ile275=) c.*119C= (n.*119C=) c.76C= n.1303C= c.*607C= (n.*607C=) c.927C= (p.Ile309=) c.912C= (p.Ile304=) c.909C= (p.Ile303=) c.822C= (p.Ile274=) c.741C= (p.Ile247=) c.837C= (p.Ile279=) c.-244C= (n.-244C=) n.1335C= c.474C= (p.Ile158=) c.777C= (p.Ile259=) c.489C= (p.Ile163=) c.924C= (p.Ile308=) | |
| 8 | g.71271884G>T | CA176082 | EYA1 | c.840C>A (p.Ile280=) c.738C>A (p.Ile246=) c.825C>A (p.Ile275=) c.*119C>A (n.*119C>A) c.76C>A n.1303C>A c.*607C>A (n.*607C>A) c.927C>A (p.Ile309=) c.912C>A (p.Ile304=) c.909C>A (p.Ile303=) c.822C>A (p.Ile274=) c.741C>A (p.Ile247=) c.837C>A (p.Ile279=) c.-244C>A (n.-244C>A) n.1335C>A c.474C>A (p.Ile158=) c.777C>A (p.Ile259=) c.489C>A (p.Ile163=) c.924C>A (p.Ile308=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |