UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.74919697_74919704del | CA2639747151 | USH1G | c.1132_1139del (p.Asp378LeufsTer10) c.*731_*738del (n.*731_*738del) c.823_830del (p.Asp275LeufsTer10) | gnomAD v4 |
| 17 | g.74919701A>C | CA400961602 | USH1G | c.1135T>G (p.Leu379Val) c.*734T>G (n.*734T>G) c.826T>G (p.Leu276Val) | |
| 17 | g.74919701A>G | CA502036731 | USH1G | c.1135T>C (p.Leu379=) c.*734T>C (n.*734T>C) c.826T>C (p.Leu276=) | |
| 17 | g.74919701A>T | CA400961603 | USH1G | c.1135T>A (p.Leu379Ile) c.*734T>A (n.*734T>A) c.826T>A (p.Leu276Ile) | |
| 17 | g.74919702A>C | CA400961604 | USH1G | c.1134T>G (p.Asp378Glu) c.*733T>G (n.*733T>G) c.825T>G (p.Asp275Glu) | |
| 17 | g.74919702A>G | CA502036734 | USH1G | c.1134T>C (p.Asp378=) c.*733T>C (n.*733T>C) c.825T>C (p.Asp275=) | dbSNP |
| 17 | g.74919702A>T | CA400961605 | USH1G | c.1134T>A (p.Asp378Glu) c.*733T>A (n.*733T>A) c.825T>A (p.Asp275Glu) | |
| 17 | g.74919703T>A | CA400961608 | USH1G | c.1133A>T (p.Asp378Val) c.*732A>T (n.*732A>T) c.824A>T (p.Asp275Val) | |
| 17 | g.74919703T>C | CA400961607 | USH1G | c.1133A>G (p.Asp378Gly) c.*732A>G (n.*732A>G) c.824A>G (p.Asp275Gly) | |
| 17 | g.74919703T>G | CA400961606 | USH1G | c.1133A>C (p.Asp378Ala) c.*732A>C (n.*732A>C) c.824A>C (p.Asp275Ala) | |
| 17 | g.74919704C>A | CA400961609 | USH1G | c.1132G>T (p.Asp378Tyr) c.*731G>T (n.*731G>T) c.823G>T (p.Asp275Tyr) | |
| 17 | g.74919704C= | CA2275255221 | USH1G | c.1132G= (p.Asp378=) c.*731G= (n.*731G=) c.823G= (p.Asp275=) | |
| 17 | g.74919704C>G | CA8753930 | USH1G | c.1132G>C (p.Asp378His) c.*731G>C (n.*731G>C) c.823G>C (p.Asp275His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919704C>T | CA400961610 | USH1G | c.1132G>A (p.Asp378Asn) c.*731G>A (n.*731G>A) c.823G>A (p.Asp275Asn) | ClinVar dbSNP COSMIC |
| 17 | g.74919705G>A | CA502036739 | USH1G | c.1131C>T (p.Leu377=) c.*730C>T (n.*730C>T) c.822C>T (p.Leu274=) | |
| 17 | g.74919705G>C | CA502036741 | USH1G | c.1131C>G (p.Leu377=) c.*730C>G (n.*730C>G) c.822C>G (p.Leu274=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919705G= | CA2275255222 | USH1G | c.1131C= (p.Leu377=) c.*730C= (n.*730C=) c.822C= (p.Leu274=) | |
| 17 | g.74919705G>T | CA502036740 | USH1G | c.1131C>A (p.Leu377=) c.*730C>A (n.*730C>A) c.822C>A (p.Leu274=) | gnomAD v4 |
| 17 | g.74919706del | CA2639747154 | USH1G | c.1130del (p.Leu377ProfsTer3) c.*729del (n.*729del) c.821del (p.Leu274ProfsTer3) | gnomAD v4 |
| 17 | g.74919706A>C | CA400961611 | USH1G | c.1130T>G (p.Leu377Arg) c.*729T>G (n.*729T>G) c.821T>G (p.Leu274Arg) | |
| 17 | g.74919706A>G | CA400961613 | USH1G | c.1130T>C (p.Leu377Pro) c.*729T>C (n.*729T>C) c.821T>C (p.Leu274Pro) | |
| 17 | g.74919706A>T | CA400961612 | USH1G | c.1130T>A (p.Leu377His) c.*729T>A (n.*729T>A) c.821T>A (p.Leu274His) | |
| 17 | g.74919707G>A | CA400961614 | USH1G | c.1129C>T (p.Leu377Phe) c.*728C>T (n.*728C>T) c.820C>T (p.Leu274Phe) | |
| 17 | g.74919707G>C | CA400961616 | USH1G | c.1129C>G (p.Leu377Val) c.*728C>G (n.*728C>G) c.820C>G (p.Leu274Val) | gnomAD v4 |
| 17 | g.74919707G>T | CA400961615 | USH1G | c.1129C>A (p.Leu377Ile) c.*728C>A (n.*728C>A) c.820C>A (p.Leu274Ile) | dbSNP |
| 17 | g.74919707_74919708insGTTACAGTGATTGTGCCACTGCACTCCAGC | CA2810423892 | USH1G | c.1128_1129insGCTGGAGTGCAGTGGCACAATCACTGTAAC (p.Glu376_Leu377insAlaGlyValGlnTrpHisAsnHisCysAsn) c.*727_*728insGCTGGAGTGCAGTGGCACAATCACTGTAAC (n.*727_*728insGCTGGAGTGCAGTGGCACAATCACTGTAAC) c.819_820insGCTGGAGTGCAGTGGCACAATCACTGTAAC (p.Glu273_Leu274insAlaGlyValGlnTrpHisAsnHisCysAsn) | |
| 17 | g.74919708C>A | CA400961617 | USH1G | c.1128G>T (p.Glu376Asp) c.*727G>T (n.*727G>T) c.819G>T (p.Glu273Asp) | |
| 17 | g.74919708C= | CA2275255223 | USH1G | c.1128G= (p.Glu376=) c.*727G= (n.*727G=) c.819G= (p.Glu273=) | |
| 17 | g.74919708C>G | CA400961618 | USH1G | c.1128G>C (p.Glu376Asp) c.*727G>C (n.*727G>C) c.819G>C (p.Glu273Asp) | |
| 17 | g.74919708C>T | CA293983628 | USH1G | c.1128G>A (p.Glu376=) c.*727G>A (n.*727G>A) c.819G>A (p.Glu273=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919709T>A | CA400961619 | USH1G | c.1127A>T (p.Glu376Val) c.*726A>T (n.*726A>T) c.818A>T (p.Glu273Val) | |
| 17 | g.74919709T>C | CA400961620 | USH1G | c.1127A>G (p.Glu376Gly) c.*726A>G (n.*726A>G) c.818A>G (p.Glu273Gly) | |
| 17 | g.74919709T>G | CA400961621 | USH1G | c.1127A>C (p.Glu376Ala) c.*726A>C (n.*726A>C) c.818A>C (p.Glu273Ala) | |
| 17 | g.74919710C>A | CA400961622 | USH1G | c.1126G>T (p.Glu376Ter) c.*725G>T (n.*725G>T) c.817G>T (p.Glu273Ter) | |
| 17 | g.74919710C>G | CA400961623 | USH1G | c.1126G>C (p.Glu376Gln) c.*725G>C (n.*725G>C) c.817G>C (p.Glu273Gln) | |
| 17 | g.74919710C>T | CA400961624 | USH1G | c.1126G>A (p.Glu376Lys) c.*725G>A (n.*725G>A) c.817G>A (p.Glu273Lys) | |
| 17 | g.74919711A>C | CA400961625 | USH1G | c.1125T>G (p.Asp375Glu) c.*724T>G (n.*724T>G) c.816T>G (p.Asp272Glu) | gnomAD v4 |
| 17 | g.74919711A>G | CA502036756 | USH1G | c.1125T>C (p.Asp375=) c.*724T>C (n.*724T>C) c.816T>C (p.Asp272=) | gnomAD v4 |
| 17 | g.74919711A>T | CA400961626 | USH1G | c.1125T>A (p.Asp375Glu) c.*724T>A (n.*724T>A) c.816T>A (p.Asp272Glu) | |
| 17 | g.74919712T>A | CA400961629 | USH1G | c.1124A>T (p.Asp375Val) c.*723A>T (n.*723A>T) c.815A>T (p.Asp272Val) | |
| 17 | g.74919712T>C | CA400961627 | USH1G | c.1124A>G (p.Asp375Gly) c.*723A>G (n.*723A>G) c.815A>G (p.Asp272Gly) | gnomAD v4 |
| 17 | g.74919712T>G | CA400961628 | USH1G | c.1124A>C (p.Asp375Ala) c.*723A>C (n.*723A>C) c.815A>C (p.Asp272Ala) | |
| 17 | g.74919713C>A | CA400961630 | USH1G | c.1123G>T (p.Asp375Tyr) c.*722G>T (n.*722G>T) c.814G>T (p.Asp272Tyr) | |
| 17 | g.74919713C>G | CA400961631 | USH1G | c.1123G>C (p.Asp375His) c.*722G>C (n.*722G>C) c.814G>C (p.Asp272His) | |
| 17 | g.74919713C>T | CA400961632 | USH1G | c.1123G>A (p.Asp375Asn) c.*722G>A (n.*722G>A) c.814G>A (p.Asp272Asn) | |
| 17 | g.74919714C>A | CA400961633 | USH1G | c.1122G>T (p.Trp374Cys) c.*721G>T (n.*721G>T) c.813G>T (p.Trp271Cys) | |
| 17 | g.74919714C>G | CA400961634 | USH1G | c.1122G>C (p.Trp374Cys) c.*721G>C (n.*721G>C) c.813G>C (p.Trp271Cys) | |
| 17 | g.74919714C>T | CA400961636 | USH1G | c.1122G>A (p.Trp374Ter) c.*721G>A (n.*721G>A) c.813G>A (p.Trp271Ter) | |
| 17 | g.74919715C>A | CA400961638 | USH1G | c.1121G>T (p.Trp374Leu) c.*720G>T (n.*720G>T) c.812G>T (p.Trp271Leu) | |
| 17 | g.74919715C>G | CA400961640 | USH1G | c.1121G>C (p.Trp374Ser) c.*720G>C (n.*720G>C) c.812G>C (p.Trp271Ser) | |
| 17 | g.74919715C>T | CA400961641 | USH1G | c.1121G>A (p.Trp374Ter) c.*720G>A (n.*720G>A) c.812G>A (p.Trp271Ter) | |
| 17 | g.74919716A= | CA2275255224 | USH1G | c.1120T= (p.Trp374=) c.*719T= (n.*719T=) c.811T= (p.Trp271=) | |
| 17 | g.74919716A>C | CA400961646 | USH1G | c.1120T>G (p.Trp374Gly) c.*719T>G (n.*719T>G) c.811T>G (p.Trp271Gly) | dbSNP gnomAD v4 |
| 17 | g.74919716A>G | CA400961647 | USH1G | c.1120T>C (p.Trp374Arg) c.*719T>C (n.*719T>C) c.811T>C (p.Trp271Arg) | |
| 17 | g.74919716A>T | CA400961644 | USH1G | c.1120T>A (p.Trp374Arg) c.*719T>A (n.*719T>A) c.811T>A (p.Trp271Arg) | |
| 17 | g.74919717G>A | CA502036763 | USH1G | c.1119C>T (p.Pro373=) c.*718C>T (n.*718C>T) c.810C>T (p.Pro270=) | |
| 17 | g.74919717G>C | CA502036765 | USH1G | c.1119C>G (p.Pro373=) c.*718C>G (n.*718C>G) c.810C>G (p.Pro270=) | dbSNP gnomAD v4 |
| 17 | g.74919717G= | CA2275255225 | USH1G | c.1119C= (p.Pro373=) c.*718C= (n.*718C=) c.810C= (p.Pro270=) | |
| 17 | g.74919717G>T | CA502036766 | USH1G | c.1119C>A (p.Pro373=) c.*718C>A (n.*718C>A) c.810C>A (p.Pro270=) | gnomAD v4 COSMIC |
| 17 | g.74919718G>A | CA293983645 | USH1G | c.1118C>T (p.Pro373Leu) c.*717C>T (n.*717C>T) c.809C>T (p.Pro270Leu) | dbSNP gnomAD v4 |
| 17 | g.74919718G>C | CA400961650 | USH1G | c.1118C>G (p.Pro373Arg) c.*717C>G (n.*717C>G) c.809C>G (p.Pro270Arg) | dbSNP |
| 17 | g.74919718G= | CA2275255226 | USH1G | c.1118C= (p.Pro373=) c.*717C= (n.*717C=) c.809C= (p.Pro270=) | |
| 17 | g.74919718G>T | CA400961651 | USH1G | c.1118C>A (p.Pro373His) c.*717C>A (n.*717C>A) c.809C>A (p.Pro270His) | |
| 17 | g.74919719G>A | CA293983652 | USH1G | c.1117C>T (p.Pro373Ser) c.*716C>T (n.*716C>T) c.808C>T (p.Pro270Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919719G>C | CA400961652 | USH1G | c.1117C>G (p.Pro373Ala) c.*716C>G (n.*716C>G) c.808C>G (p.Pro270Ala) | |
| 17 | g.74919719G= | CA2275255227 | USH1G | c.1117C= (p.Pro373=) c.*716C= (n.*716C=) c.808C= (p.Pro270=) | |
| 17 | g.74919719G>T | CA400961654 | USH1G | c.1117C>A (p.Pro373Thr) c.*716C>A (n.*716C>A) c.808C>A (p.Pro270Thr) | |
| 17 | g.74919720C>A | CA502036772 | USH1G | c.1116G>T (p.Leu372=) c.*715G>T (n.*715G>T) c.807G>T (p.Leu269=) | gnomAD v4 |
| 17 | g.74919720C= | CA2275255228 | USH1G | c.1116G= (p.Leu372=) c.*715G= (n.*715G=) c.807G= (p.Leu269=) | |
| 17 | g.74919720C>G | CA502036773 | USH1G | c.1116G>C (p.Leu372=) c.*715G>C (n.*715G>C) c.807G>C (p.Leu269=) | |
| 17 | g.74919720C>T | CA502036775 | USH1G | c.1116G>A (p.Leu372=) c.*715G>A (n.*715G>A) c.807G>A (p.Leu269=) | dbSNP gnomAD v4 |
| 17 | g.74919721A>C | CA400961656 | USH1G | c.1115T>G (p.Leu372Arg) c.*714T>G (n.*714T>G) c.806T>G (p.Leu269Arg) | |
| 17 | g.74919721A>G | CA400961660 | USH1G | c.1115T>C (p.Leu372Pro) c.*714T>C (n.*714T>C) c.806T>C (p.Leu269Pro) | |
| 17 | g.74919721A>T | CA400961658 | USH1G | c.1115T>A (p.Leu372Gln) c.*714T>A (n.*714T>A) c.806T>A (p.Leu269Gln) | |
| 17 | g.74919722G>A | CA502036779 | USH1G | c.1114C>T (p.Leu372=) c.*713C>T (n.*713C>T) c.805C>T (p.Leu269=) | gnomAD v4 |
| 17 | g.74919722G>C | CA400961662 | USH1G | c.1114C>G (p.Leu372Val) c.*713C>G (n.*713C>G) c.805C>G (p.Leu269Val) | |
| 17 | g.74919722G>T | CA400961663 | USH1G | c.1114C>A (p.Leu372Met) c.*713C>A (n.*713C>A) c.805C>A (p.Leu269Met) | |
| 17 | g.74919723C>A | CA400961665 | USH1G | c.1113G>T (p.Glu371Asp) c.*712G>T (n.*712G>T) c.804G>T (p.Glu268Asp) | |
| 17 | g.74919723C= | CA2275255229 | USH1G | c.1113G= (p.Glu371=) c.*712G= (n.*712G=) c.804G= (p.Glu268=) | |
| 17 | g.74919723C>G | CA400961667 | USH1G | c.1113G>C (p.Glu371Asp) c.*712G>C (n.*712G>C) c.804G>C (p.Glu268Asp) | |
| 17 | g.74919723C>T | CA502036782 | USH1G | c.1113G>A (p.Glu371=) c.*712G>A (n.*712G>A) c.804G>A (p.Glu268=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.74919724T>A | CA400961669 | USH1G | c.1112A>T (p.Glu371Val) c.*711A>T (n.*711A>T) c.803A>T (p.Glu268Val) | |
| 17 | g.74919724T>C | CA400961673 | USH1G | c.1112A>G (p.Glu371Gly) c.*711A>G (n.*711A>G) c.803A>G (p.Glu268Gly) | |
| 17 | g.74919724T>G | CA400961671 | USH1G | c.1112A>C (p.Glu371Ala) c.*711A>C (n.*711A>C) c.803A>C (p.Glu268Ala) | |
| 17 | g.74919725C>A | CA400961675 | USH1G | c.1111G>T (p.Glu371Ter) c.*710G>T (n.*710G>T) c.802G>T (p.Glu268Ter) | |
| 17 | g.74919725C= | CA2275255230 | USH1G | c.1111G= (p.Glu371=) c.*710G= (n.*710G=) c.802G= (p.Glu268=) | |
| 17 | g.74919725C>G | CA400961676 | USH1G | c.1111G>C (p.Glu371Gln) c.*710G>C (n.*710G>C) c.802G>C (p.Glu268Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919725C>T | CA400961678 | USH1G | c.1111G>A (p.Glu371Lys) c.*710G>A (n.*710G>A) c.802G>A (p.Glu268Lys) | |
| 17 | g.74919726C>A | CA400961680 | USH1G | c.1110G>T (p.Glu370Asp) c.*709G>T (n.*709G>T) c.801G>T (p.Glu267Asp) | |
| 17 | g.74919726C= | CA2275255231 | USH1G | c.1110G= (p.Glu370=) c.*709G= (n.*709G=) c.801G= (p.Glu267=) | |
| 17 | g.74919726C>G | CA400961682 | USH1G | c.1110G>C (p.Glu370Asp) c.*709G>C (n.*709G>C) c.801G>C (p.Glu267Asp) | ClinVar dbSNP gnomAD v4 |
| 17 | g.74919726C>T | CA502036788 | USH1G | c.1110G>A (p.Glu370=) c.*709G>A (n.*709G>A) c.801G>A (p.Glu267=) | |
| 17 | g.74919727T>A | CA400961684 | USH1G | c.1109A>T (p.Glu370Val) c.*708A>T (n.*708A>T) c.800A>T (p.Glu267Val) | |
| 17 | g.74919727T>C | CA400961686 | USH1G | c.1109A>G (p.Glu370Gly) c.*708A>G (n.*708A>G) c.800A>G (p.Glu267Gly) | |
| 17 | g.74919727T>G | CA400961688 | USH1G | c.1109A>C (p.Glu370Ala) c.*708A>C (n.*708A>C) c.800A>C (p.Glu267Ala) | |
| 17 | g.74919728C>A | CA400961690 | USH1G | c.1108G>T (p.Glu370Ter) c.*707G>T (n.*707G>T) c.799G>T (p.Glu267Ter) | |
| 17 | g.74919728C= | CA2275255232 | USH1G | c.1108G= (p.Glu370=) c.*707G= (n.*707G=) c.799G= (p.Glu267=) | |
| 17 | g.74919728C>G | CA400961691 | USH1G | c.1108G>C (p.Glu370Gln) c.*707G>C (n.*707G>C) c.799G>C (p.Glu267Gln) | |
| 17 | g.74919728C>T | CA400961693 | USH1G | c.1108G>A (p.Glu370Lys) c.*707G>A (n.*707G>A) c.799G>A (p.Glu267Lys) | dbSNP |
| 17 | g.74919729C>A | CA502036795 | USH1G | c.1107G>T (p.Gly369=) c.*706G>T (n.*706G>T) c.798G>T (p.Gly266=) | |
| 17 | g.74919729C>G | CA502036796 | USH1G | c.1107G>C (p.Gly369=) c.*706G>C (n.*706G>C) c.798G>C (p.Gly266=) | |
| 17 | g.74919729C>T | CA502036799 | USH1G | c.1107G>A (p.Gly369=) c.*706G>A (n.*706G>A) c.798G>A (p.Gly266=) | |
| 17 | g.74919730C>A | CA400961695 | USH1G | c.1106G>T (p.Gly369Val) c.*705G>T (n.*705G>T) c.797G>T (p.Gly266Val) | gnomAD v4 |
| 17 | g.74919730C>G | CA400961697 | USH1G | c.1106G>C (p.Gly369Ala) c.*705G>C (n.*705G>C) c.797G>C (p.Gly266Ala) | |
| 17 | g.74919730C>T | CA400961694 | USH1G | c.1106G>A (p.Gly369Glu) c.*705G>A (n.*705G>A) c.797G>A (p.Gly266Glu) | |
| 17 | g.74919731C>A | CA400961702 | USH1G | c.1105G>T (p.Gly369Trp) c.*704G>T (n.*704G>T) c.796G>T (p.Gly266Trp) | gnomAD v4 |
| 17 | g.74919731C= | CA2275255233 | USH1G | c.1105G= (p.Gly369=) c.*704G= (n.*704G=) c.796G= (p.Gly266=) | |
| 17 | g.74919731C>G | CA400961698 | USH1G | c.1105G>C (p.Gly369Arg) c.*704G>C (n.*704G>C) c.796G>C (p.Gly266Arg) | |
| 17 | g.74919731C>T | CA400961700 | USH1G | c.1105G>A (p.Gly369Arg) c.*704G>A (n.*704G>A) c.796G>A (p.Gly266Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.74919732A>C | CA400961705 | USH1G | c.1104T>G (p.Cys368Trp) c.*703T>G (n.*703T>G) c.795T>G (p.Cys265Trp) | |
| 17 | g.74919732A>G | CA502036808 | USH1G | c.1104T>C (p.Cys368=) c.*703T>C (n.*703T>C) c.795T>C (p.Cys265=) | |
| 17 | g.74919732A>T | CA400961707 | USH1G | c.1104T>A (p.Cys368Ter) c.*703T>A (n.*703T>A) c.795T>A (p.Cys265Ter) | |
| 17 | g.74919733C>A | CA400961709 | USH1G | c.1103G>T (p.Cys368Phe) c.*702G>T (n.*702G>T) c.794G>T (p.Cys265Phe) | |
| 17 | g.74919733C= | CA2275255234 | USH1G | c.1103G= (p.Cys368=) c.*702G= (n.*702G=) c.794G= (p.Cys265=) | |
| 17 | g.74919733C>G | CA400961711 | USH1G | c.1103G>C (p.Cys368Ser) c.*702G>C (n.*702G>C) c.794G>C (p.Cys265Ser) | |
| 17 | g.74919733C>T | CA400961713 | USH1G | c.1103G>A (p.Cys368Tyr) c.*702G>A (n.*702G>A) c.794G>A (p.Cys265Tyr) | dbSNP |
| 17 | g.74919734A>C | CA400961716 | USH1G | c.1102T>G (p.Cys368Gly) c.*701T>G (n.*701T>G) c.793T>G (p.Cys265Gly) | |
| 17 | g.74919734A>G | CA400961718 | USH1G | c.1102T>C (p.Cys368Arg) c.*701T>C (n.*701T>C) c.793T>C (p.Cys265Arg) | |
| 17 | g.74919734A>T | CA400961720 | USH1G | c.1102T>A (p.Cys368Ser) c.*701T>A (n.*701T>A) c.793T>A (p.Cys265Ser) | |
| 17 | g.74919735G>A | CA502036821 | USH1G | c.1101C>T (p.Ser367=) c.*700C>T (n.*700C>T) c.792C>T (p.Ser264=) | |
| 17 | g.74919735G>C | CA400961723 | USH1G | c.1101C>G (p.Ser367Arg) c.*700C>G (n.*700C>G) c.792C>G (p.Ser264Arg) | |
| 17 | g.74919735G>T | CA400961725 | USH1G | c.1101C>A (p.Ser367Arg) c.*700C>A (n.*700C>A) c.792C>A (p.Ser264Arg) | |
| 17 | g.74919736C>A | CA400961730 | USH1G | c.1100G>T (p.Ser367Ile) c.*699G>T (n.*699G>T) c.791G>T (p.Ser264Ile) | |
| 17 | g.74919736C>G | CA400961726 | USH1G | c.1100G>C (p.Ser367Thr) c.*699G>C (n.*699G>C) c.791G>C (p.Ser264Thr) | |
| 17 | g.74919736C>T | CA400961727 | USH1G | c.1100G>A (p.Ser367Asn) c.*699G>A (n.*699G>A) c.791G>A (p.Ser264Asn) | |
| 17 | g.74919737T>A | CA400961732 | USH1G | c.1099A>T (p.Ser367Cys) c.*698A>T (n.*698A>T) c.790A>T (p.Ser264Cys) | |
| 17 | g.74919737T>C | CA400961734 | USH1G | c.1099A>G (p.Ser367Gly) c.*698A>G (n.*698A>G) c.790A>G (p.Ser264Gly) | |
| 17 | g.74919737T>G | CA400961736 | USH1G | c.1099A>C (p.Ser367Arg) c.*698A>C (n.*698A>C) c.790A>C (p.Ser264Arg) | |
| 17 | g.74919738G>A | CA502036827 | USH1G | c.1098C>T (p.Arg366=) c.*697C>T (n.*697C>T) c.789C>T (p.Arg263=) | |
| 17 | g.74919738G>C | CA502036828 | USH1G | c.1098C>G (p.Arg366=) c.*697C>G (n.*697C>G) c.789C>G (p.Arg263=) | |
| 17 | g.74919738G>T | CA502036829 | USH1G | c.1098C>A (p.Arg366=) c.*697C>A (n.*697C>A) c.789C>A (p.Arg263=) | |
| 17 | g.74919739C>A | CA400961738 | USH1G | c.1097G>T (p.Arg366Leu) c.*696G>T (n.*696G>T) c.788G>T (p.Arg263Leu) | |
| 17 | g.74919739C= | CA2275255235 | USH1G | c.1097G= (p.Arg366=) c.*696G= (n.*696G=) c.788G= (p.Arg263=) | |
| 17 | g.74919739C>G | CA400961740 | USH1G | c.1097G>C (p.Arg366Pro) c.*696G>C (n.*696G>C) c.788G>C (p.Arg263Pro) | |
| 17 | g.74919739C>T | CA400961742 | USH1G | c.1097G>A (p.Arg366His) c.*696G>A (n.*696G>A) c.788G>A (p.Arg263His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919740G>A | CA400961745 | USH1G | c.1096C>T (p.Arg366Cys) c.*695C>T (n.*695C>T) c.787C>T (p.Arg263Cys) | |
| 17 | g.74919740G>C | CA400961746 | USH1G | c.1096C>G (p.Arg366Gly) c.*695C>G (n.*695C>G) c.787C>G (p.Arg263Gly) | dbSNP |
| 17 | g.74919740G= | CA2275255236 | USH1G | c.1096C= (p.Arg366=) c.*695C= (n.*695C=) c.787C= (p.Arg263=) | |
| 17 | g.74919740G>T | CA400961748 | USH1G | c.1096C>A (p.Arg366Ser) c.*695C>A (n.*695C>A) c.787C>A (p.Arg263Ser) | gnomAD v4 |
| 17 | g.74919741G>A | CA502036834 | USH1G | c.1095C>T (p.Asp365=) c.*694C>T (n.*694C>T) c.786C>T (p.Asp262=) | gnomAD v4 |
| 17 | g.74919741G>C | CA400961751 | USH1G | c.1095C>G (p.Asp365Glu) c.*694C>G (n.*694C>G) c.786C>G (p.Asp262Glu) | gnomAD v4 |
| 17 | g.74919741G>T | CA400961752 | USH1G | c.1095C>A (p.Asp365Glu) c.*694C>A (n.*694C>A) c.786C>A (p.Asp262Glu) | |
| 17 | g.74919742T>A | CA400961757 | USH1G | c.1094A>T (p.Asp365Val) c.*693A>T (n.*693A>T) c.785A>T (p.Asp262Val) | gnomAD v4 |
| 17 | g.74919742T>C | CA400961759 | USH1G | c.1094A>G (p.Asp365Gly) c.*693A>G (n.*693A>G) c.785A>G (p.Asp262Gly) | |
| 17 | g.74919742T>G | CA400961755 | USH1G | c.1094A>C (p.Asp365Ala) c.*693A>C (n.*693A>C) c.785A>C (p.Asp262Ala) | |
| 17 | g.74919743C>A | CA400961761 | USH1G | c.1093G>T (p.Asp365Tyr) c.*692G>T (n.*692G>T) c.784G>T (p.Asp262Tyr) | |
| 17 | g.74919743C= | CA2275255237 | USH1G | c.1093G= (p.Asp365=) c.*692G= (n.*692G=) c.784G= (p.Asp262=) | |
| 17 | g.74919743C>G | CA400961762 | USH1G | c.1093G>C (p.Asp365His) c.*692G>C (n.*692G>C) c.784G>C (p.Asp262His) | |
| 17 | g.74919743C>T | CA8753931 | USH1G | c.1093G>A (p.Asp365Asn) c.*692G>A (n.*692G>A) c.784G>A (p.Asp262Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919744C>A | CA400961766 | USH1G | c.1092G>T (p.Gln364His) c.*691G>T (n.*691G>T) c.783G>T (p.Gln261His) | |
| 17 | g.74919744C= | CA2275255238 | USH1G | c.1092G= (p.Gln364=) c.*691G= (n.*691G=) c.783G= (p.Gln261=) | |
| 17 | g.74919744C>G | CA400961767 | USH1G | c.1092G>C (p.Gln364His) c.*691G>C (n.*691G>C) c.783G>C (p.Gln261His) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.74919744C>T | CA502036848 | USH1G | c.1092G>A (p.Gln364=) c.*691G>A (n.*691G>A) c.783G>A (p.Gln261=) | |
| 17 | g.74919745T>A | CA400961770 | USH1G | c.1091A>T (p.Gln364Leu) c.*690A>T (n.*690A>T) c.782A>T (p.Gln261Leu) | |
| 17 | g.74919745T>C | CA400961771 | USH1G | c.1091A>G (p.Gln364Arg) c.*690A>G (n.*690A>G) c.782A>G (p.Gln261Arg) | gnomAD v4 |
| 17 | g.74919745T>G | CA400961772 | USH1G | c.1091A>C (p.Gln364Pro) c.*690A>C (n.*690A>C) c.782A>C (p.Gln261Pro) | |
| 17 | g.74919746G>A | CA400961773 | USH1G | c.1090C>T (p.Gln364Ter) c.*689C>T (n.*689C>T) c.781C>T (p.Gln261Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919746G>C | CA400961775 | USH1G | c.1090C>G (p.Gln364Glu) c.*689C>G (n.*689C>G) c.781C>G (p.Gln261Glu) | |
| 17 | g.74919746G= | CA2275255239 | USH1G | c.1090C= (p.Gln364=) c.*689C= (n.*689C=) c.781C= (p.Gln261=) | |
| 17 | g.74919746G>T | CA400961777 | USH1G | c.1090C>A (p.Gln364Lys) c.*689C>A (n.*689C>A) c.781C>A (p.Gln261Lys) | gnomAD v4 |
| 17 | g.74919747C>A | CA502036853 | USH1G | c.1089G>T (p.Leu363=) c.*688G>T (n.*688G>T) c.780G>T (p.Leu260=) | |
| 17 | g.74919747C= | CA2275255240 | USH1G | c.1089G= (p.Leu363=) c.*688G= (n.*688G=) c.780G= (p.Leu260=) | |
| 17 | g.74919747C>G | CA502036854 | USH1G | c.1089G>C (p.Leu363=) c.*688G>C (n.*688G>C) c.780G>C (p.Leu260=) | dbSNP gnomAD v4 |
| 17 | g.74919747C>T | CA502036855 | USH1G | c.1089G>A (p.Leu363=) c.*688G>A (n.*688G>A) c.780G>A (p.Leu260=) | |
| 17 | g.74919748A>C | CA400961779 | USH1G | c.1088T>G (p.Leu363Arg) c.*687T>G (n.*687T>G) c.779T>G (p.Leu260Arg) | |
| 17 | g.74919748A>G | CA400961781 | USH1G | c.1088T>C (p.Leu363Pro) c.*687T>C (n.*687T>C) c.779T>C (p.Leu260Pro) | |
| 17 | g.74919748A>T | CA400961783 | USH1G | c.1088T>A (p.Leu363Gln) c.*687T>A (n.*687T>A) c.779T>A (p.Leu260Gln) | |
| 17 | g.74919749G>A | CA502036859 | USH1G | c.1087C>T (p.Leu363=) c.*686C>T (n.*686C>T) c.778C>T (p.Leu260=) | COSMIC |
| 17 | g.74919749G>C | CA400961784 | USH1G | c.1087C>G (p.Leu363Val) c.*686C>G (n.*686C>G) c.778C>G (p.Leu260Val) | |
| 17 | g.74919749G= | CA2275255241 | USH1G | c.1087C= (p.Leu363=) c.*686C= (n.*686C=) c.778C= (p.Leu260=) | |
| 17 | g.74919749G>T | CA293983674 | USH1G | c.1087C>A (p.Leu363Met) c.*686C>A (n.*686C>A) c.778C>A (p.Leu260Met) | dbSNP |
| 17 | g.74919750G>A | CA8753932 | USH1G | c.1086C>T (p.Ser362=) c.*685C>T (n.*685C>T) c.777C>T (p.Ser259=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919750G>C | CA400961788 | USH1G | c.1086C>G (p.Ser362Arg) c.*685C>G (n.*685C>G) c.777C>G (p.Ser259Arg) | |
| 17 | g.74919750G= | CA2275255242 | USH1G | c.1086C= (p.Ser362=) c.*685C= (n.*685C=) c.777C= (p.Ser259=) | |
| 17 | g.74919750G>T | CA400961791 | USH1G | c.1086C>A (p.Ser362Arg) c.*685C>A (n.*685C>A) c.777C>A (p.Ser259Arg) | |
| 17 | g.74919751C>A | CA8753933 | USH1G | c.1085G>T (p.Ser362Ile) c.*684G>T (n.*684G>T) c.776G>T (p.Ser259Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919751C= | CA2275255243 | USH1G | c.1085G= (p.Ser362=) c.*684G= (n.*684G=) c.776G= (p.Ser259=) | |
| 17 | g.74919751C>G | CA400961794 | USH1G | c.1085G>C (p.Ser362Thr) c.*684G>C (n.*684G>C) c.776G>C (p.Ser259Thr) | |
| 17 | g.74919751C>T | CA400961796 | USH1G | c.1085G>A (p.Ser362Asn) c.*684G>A (n.*684G>A) c.776G>A (p.Ser259Asn) | |
| 17 | g.74919752T>A | CA400961798 | USH1G | c.1084A>T (p.Ser362Cys) c.*683A>T (n.*683A>T) c.775A>T (p.Ser259Cys) | |
| 17 | g.74919752T>C | CA400961800 | USH1G | c.1084A>G (p.Ser362Gly) c.*683A>G (n.*683A>G) c.775A>G (p.Ser259Gly) | |
| 17 | g.74919752T>G | CA400961802 | USH1G | c.1084A>C (p.Ser362Arg) c.*683A>C (n.*683A>C) c.775A>C (p.Ser259Arg) | |
| 17 | g.74919753G>A | CA502036866 | USH1G | c.1083C>T (p.Asn361=) c.*682C>T (n.*682C>T) c.774C>T (p.Asn258=) | |
| 17 | g.74919753G>C | CA400961804 | USH1G | c.1083C>G (p.Asn361Lys) c.*682C>G (n.*682C>G) c.774C>G (p.Asn258Lys) | |
| 17 | g.74919753G>T | CA400961806 | USH1G | c.1083C>A (p.Asn361Lys) c.*682C>A (n.*682C>A) c.774C>A (p.Asn258Lys) | |
| 17 | g.74919754T>A | CA400961808 | USH1G | c.1082A>T (p.Asn361Ile) c.*681A>T (n.*681A>T) c.773A>T (p.Asn258Ile) | |
| 17 | g.74919754T>C | CA8753934 | USH1G | c.1082A>G (p.Asn361Ser) c.*681A>G (n.*681A>G) c.773A>G (p.Asn258Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919754T>G | CA8753935 | USH1G | c.1082A>C (p.Asn361Thr) c.*681A>C (n.*681A>C) c.773A>C (p.Asn258Thr) | dbSNP ExAC gnomAD v2 |
| 17 | g.74919754T= | CA2275255244 | USH1G | c.1082A= (p.Asn361=) c.*681A= (n.*681A=) c.773A= (p.Asn258=) | |
| 17 | g.74919755T>A | CA400961814 | USH1G | c.1081A>T (p.Asn361Tyr) c.*680A>T (n.*680A>T) c.772A>T (p.Asn258Tyr) | gnomAD v4 |
| 17 | g.74919755T>C | CA400961816 | USH1G | c.1081A>G (p.Asn361Asp) c.*680A>G (n.*680A>G) c.772A>G (p.Asn258Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919755T>G | CA400961812 | USH1G | c.1081A>C (p.Asn361His) c.*680A>C (n.*680A>C) c.772A>C (p.Asn258His) | |
| 17 | g.74919755T= | CA2275255245 | USH1G | c.1081A= (p.Asn361=) c.*680A= (n.*680A=) c.772A= (p.Asn258=) | |
| 17 | g.74919756G>A | CA502036879 | USH1G | c.1080C>T (p.Ala360=) c.*679C>T (n.*679C>T) c.771C>T (p.Ala257=) | |
| 17 | g.74919756G>C | CA502036880 | USH1G | c.1080C>G (p.Ala360=) c.*679C>G (n.*679C>G) c.771C>G (p.Ala257=) | |
| 17 | g.74919756G>T | CA502036881 | USH1G | c.1080C>A (p.Ala360=) c.*679C>A (n.*679C>A) c.771C>A (p.Ala257=) | |
| 17 | g.74919756_74919773dup | CA2639747161 | USH1G | c.1063_1080dup (p.Ala360_Asn361insAspSerLeuGlySerAla) c.*662_*679dup (n.*662_*679dup) c.754_771dup (p.Ala257_Asn258insAspSerLeuGlySerAla) | gnomAD v4 |
| 17 | g.74919757G>A | CA8753936 | USH1G | c.1079C>T (p.Ala360Val) c.*678C>T (n.*678C>T) c.770C>T (p.Ala257Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919757G>C | CA400961817 | USH1G | c.1079C>G (p.Ala360Gly) c.*678C>G (n.*678C>G) c.770C>G (p.Ala257Gly) | |
| 17 | g.74919757G= | CA2275255246 | USH1G | c.1079C= (p.Ala360=) c.*678C= (n.*678C=) c.770C= (p.Ala257=) | |
| 17 | g.74919757G>T | CA400961819 | USH1G | c.1079C>A (p.Ala360Asp) c.*678C>A (n.*678C>A) c.770C>A (p.Ala257Asp) | |
| 17 | g.74919758C>A | CA400961823 | USH1G | c.1078G>T (p.Ala360Ser) c.*677G>T (n.*677G>T) c.769G>T (p.Ala257Ser) | |
| 17 | g.74919758C>G | CA400961825 | USH1G | c.1078G>C (p.Ala360Pro) c.*677G>C (n.*677G>C) c.769G>C (p.Ala257Pro) | |
| 17 | g.74919758C>T | CA400961826 | USH1G | c.1078G>A (p.Ala360Thr) c.*677G>A (n.*677G>A) c.769G>A (p.Ala257Thr) | |
| 17 | g.74919759A= | CA2275255247 | USH1G | c.1077T= (p.Ser359=) c.*676T= (n.*676T=) c.768T= (p.Ser256=) | |
| 17 | g.74919759A>C | CA400961829 | USH1G | c.1077T>G (p.Ser359Arg) c.*676T>G (n.*676T>G) c.768T>G (p.Ser256Arg) | |
| 17 | g.74919759A>G | CA8753937 | USH1G | c.1077T>C (p.Ser359=) c.*676T>C (n.*676T>C) c.768T>C (p.Ser256=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919759A>T | CA400961832 | USH1G | c.1077T>A (p.Ser359Arg) c.*676T>A (n.*676T>A) c.768T>A (p.Ser256Arg) | |
| 17 | g.74919760C>A | CA400961834 | USH1G | c.1076G>T (p.Ser359Ile) c.*675G>T (n.*675G>T) c.767G>T (p.Ser256Ile) | |
| 17 | g.74919760C= | CA2275255248 | USH1G | c.1076G= (p.Ser359=) c.*675G= (n.*675G=) c.767G= (p.Ser256=) | |
| 17 | g.74919760C>G | CA400961837 | USH1G | c.1076G>C (p.Ser359Thr) c.*675G>C (n.*675G>C) c.767G>C (p.Ser256Thr) | ClinVar dbSNP |
| 17 | g.74919760C>T | CA8753938 | USH1G | c.1076G>A (p.Ser359Asn) c.*675G>A (n.*675G>A) c.767G>A (p.Ser256Asn) | dbSNP ExAC gnomAD v4 |
| 17 | g.74919761T>A | CA400961839 | USH1G | c.1075A>T (p.Ser359Cys) c.*674A>T (n.*674A>T) c.766A>T (p.Ser256Cys) | |
| 17 | g.74919761T>C | CA400961840 | USH1G | c.1075A>G (p.Ser359Gly) c.*674A>G (n.*674A>G) c.766A>G (p.Ser256Gly) | |
| 17 | g.74919761T>G | CA400961842 | USH1G | c.1075A>C (p.Ser359Arg) c.*674A>C (n.*674A>C) c.766A>C (p.Ser256Arg) | |
| 17 | g.74919761_74919776delinsTGCCCAGGCTGTCATC | CA2275255249 | USH1G | c.1060_1075delinsGATGACAGCCTGGGCA (p.Asp354=) c.*659_*674delinsGATGACAGCCTGGGCA (n.*659_*674delinsGATGACAGCCTGGGCA) c.751_766delinsGATGACAGCCTGGGCA (p.Asp251=) | |
| 17 | g.74919762G>A | CA502036896 | USH1G | c.1074C>T (p.Gly358=) c.*673C>T (n.*673C>T) c.765C>T (p.Gly255=) | |
| 17 | g.74919762G>C | CA502036895 | USH1G | c.1074C>G (p.Gly358=) c.*673C>G (n.*673C>G) c.765C>G (p.Gly255=) | |
| 17 | g.74919762G>T | CA502036897 | USH1G | c.1074C>A (p.Gly358=) c.*673C>A (n.*673C>A) c.765C>A (p.Gly255=) | |
| 17 | g.74919763_74919777del | CA8753939 | USH1G | c.1060_1074del (p.Asp354_Gly358del) c.*659_*673del (n.*659_*673del) c.751_765del (p.Asp251_Gly255del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919763C>A | CA400961845 | USH1G | c.1073G>T (p.Gly358Val) c.*672G>T (n.*672G>T) c.764G>T (p.Gly255Val) | |
| 17 | g.74919763C= | CA2275255250 | USH1G | c.1073G= (p.Gly358=) c.*672G= (n.*672G=) c.764G= (p.Gly255=) | |
| 17 | g.74919763C>G | CA400961848 | USH1G | c.1073G>C (p.Gly358Ala) c.*672G>C (n.*672G>C) c.764G>C (p.Gly255Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.74919763C>T | CA400961846 | USH1G | c.1073G>A (p.Gly358Asp) c.*672G>A (n.*672G>A) c.764G>A (p.Gly255Asp) | |
| 17 | g.74919764C>A | CA400961851 | USH1G | c.1072G>T (p.Gly358Cys) c.*671G>T (n.*671G>T) c.763G>T (p.Gly255Cys) | |
| 17 | g.74919764C>G | CA400961852 | USH1G | c.1072G>C (p.Gly358Arg) c.*671G>C (n.*671G>C) c.763G>C (p.Gly255Arg) | |
| 17 | g.74919764C>T | CA400961854 | USH1G | c.1072G>A (p.Gly358Ser) c.*671G>A (n.*671G>A) c.763G>A (p.Gly255Ser) | gnomAD v4 |
| 17 | g.74919772_74919786dup | CA2275255251 | USH1G | c.1058_1072dup (p.Leu357_Gly358insAspAspAspSerLeu) c.*657_*671dup (n.*657_*671dup) c.749_763dup (p.Leu254_Gly255insAspAspAspSerLeu) | dbSNP |
| 17 | g.74919765C>A | CA502036902 | USH1G | c.1071G>T (p.Leu357=) c.*670G>T (n.*670G>T) c.762G>T (p.Leu254=) | |
| 17 | g.74919765C>G | CA502036903 | USH1G | c.1071G>C (p.Leu357=) c.*670G>C (n.*670G>C) c.762G>C (p.Leu254=) | |
| 17 | g.74919765C>T | CA502036904 | USH1G | c.1071G>A (p.Leu357=) c.*670G>A (n.*670G>A) c.762G>A (p.Leu254=) | |
| 17 | g.74919766A>C | CA400961856 | USH1G | c.1070T>G (p.Leu357Arg) c.*669T>G (n.*669T>G) c.761T>G (p.Leu254Arg) | gnomAD v4 |
| 17 | g.74919766A>G | CA400961858 | USH1G | c.1070T>C (p.Leu357Pro) c.*669T>C (n.*669T>C) c.761T>C (p.Leu254Pro) | |
| 17 | g.74919766A>T | CA400961859 | USH1G | c.1070T>A (p.Leu357Gln) c.*669T>A (n.*669T>A) c.761T>A (p.Leu254Gln) | |
| 17 | g.74919767G>A | CA293983709 | USH1G | c.1069C>T (p.Leu357=) c.*668C>T (n.*668C>T) c.760C>T (p.Leu254=) | dbSNP |
| 17 | g.74919767G>C | CA400961861 | USH1G | c.1069C>G (p.Leu357Val) c.*668C>G (n.*668C>G) c.760C>G (p.Leu254Val) | |
| 17 | g.74919767G= | CA2275255252 | USH1G | c.1069C= (p.Leu357=) c.*668C= (n.*668C=) c.760C= (p.Leu254=) | |
| 17 | g.74919767G>T | CA400961862 | USH1G | c.1069C>A (p.Leu357Met) c.*668C>A (n.*668C>A) c.760C>A (p.Leu254Met) | |
| 17 | g.74919768G>A | CA502036907 | USH1G | c.1068C>T (p.Ser356=) c.*667C>T (n.*667C>T) c.759C>T (p.Ser253=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919768G>C | CA400961864 | USH1G | c.1068C>G (p.Ser356Arg) c.*667C>G (n.*667C>G) c.759C>G (p.Ser253Arg) | |
| 17 | g.74919768G= | CA2275255253 | USH1G | c.1068C= (p.Ser356=) c.*667C= (n.*667C=) c.759C= (p.Ser253=) | |
| 17 | g.74919768G>T | CA400961866 | USH1G | c.1068C>A (p.Ser356Arg) c.*667C>A (n.*667C>A) c.759C>A (p.Ser253Arg) | |
| 17 | g.74919769C>A | CA400961868 | USH1G | c.1067G>T (p.Ser356Ile) c.*666G>T (n.*666G>T) c.758G>T (p.Ser253Ile) | |
| 17 | g.74919769C>G | CA400961873 | USH1G | c.1067G>C (p.Ser356Thr) c.*666G>C (n.*666G>C) c.758G>C (p.Ser253Thr) | |
| 17 | g.74919769C>T | CA400961870 | USH1G | c.1067G>A (p.Ser356Asn) c.*666G>A (n.*666G>A) c.758G>A (p.Ser253Asn) | ClinVar gnomAD v4 |
| 17 | g.74919770T>A | CA400961874 | USH1G | c.1066A>T (p.Ser356Cys) c.*665A>T (n.*665A>T) c.757A>T (p.Ser253Cys) | |
| 17 | g.74919770T>C | CA293983714 | USH1G | c.1066A>G (p.Ser356Gly) c.*665A>G (n.*665A>G) c.757A>G (p.Ser253Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919770T>G | CA400961877 | USH1G | c.1066A>C (p.Ser356Arg) c.*665A>C (n.*665A>C) c.757A>C (p.Ser253Arg) | |
| 17 | g.74919770T= | CA2275255254 | USH1G | c.1066A= (p.Ser356=) c.*665A= (n.*665A=) c.757A= (p.Ser253=) | |
| 17 | g.74919771G>A | CA502036913 | USH1G | c.1065C>T (p.Asp355=) c.*664C>T (n.*664C>T) c.756C>T (p.Asp252=) | |
| 17 | g.74919771G>C | CA400961879 | USH1G | c.1065C>G (p.Asp355Glu) c.*664C>G (n.*664C>G) c.756C>G (p.Asp252Glu) | |
| 17 | g.74919771G>T | CA400961881 | USH1G | c.1065C>A (p.Asp355Glu) c.*664C>A (n.*664C>A) c.756C>A (p.Asp252Glu) | |
| 17 | g.74919772T>A | CA400961883 | USH1G | c.1064A>T (p.Asp355Val) c.*663A>T (n.*663A>T) c.755A>T (p.Asp252Val) | |
| 17 | g.74919772T>C | CA400961884 | USH1G | c.1064A>G (p.Asp355Gly) c.*663A>G (n.*663A>G) c.755A>G (p.Asp252Gly) | |
| 17 | g.74919772T>G | CA400961885 | USH1G | c.1064A>C (p.Asp355Ala) c.*663A>C (n.*663A>C) c.755A>C (p.Asp252Ala) | |
| 17 | g.74919773C>A | CA8753940 | USH1G | c.1063G>T (p.Asp355Tyr) c.*662G>T (n.*662G>T) c.754G>T (p.Asp252Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919773C= | CA2275255255 | USH1G | c.1063G= (p.Asp355=) c.*662G= (n.*662G=) c.754G= (p.Asp252=) | |
| 17 | g.74919773C>G | CA400961887 | USH1G | c.1063G>C (p.Asp355His) c.*662G>C (n.*662G>C) c.754G>C (p.Asp252His) | |
| 17 | g.74919773C>T | CA400961889 | USH1G | c.1063G>A (p.Asp355Asn) c.*662G>A (n.*662G>A) c.754G>A (p.Asp252Asn) | |
| 17 | g.74919774A>C | CA400961891 | USH1G | c.1062T>G (p.Asp354Glu) c.*661T>G (n.*661T>G) c.753T>G (p.Asp251Glu) | |
| 17 | g.74919774A>G | CA502036410 | USH1G | c.1062T>C (p.Asp354=) c.*661T>C (n.*661T>C) c.753T>C (p.Asp251=) | |
| 17 | g.74919774A>T | CA400961893 | USH1G | c.1062T>A (p.Asp354Glu) c.*661T>A (n.*661T>A) c.753T>A (p.Asp251Glu) | |
| 17 | g.74919775T>A | CA400961895 | USH1G | c.1061A>T (p.Asp354Val) c.*660A>T (n.*660A>T) c.752A>T (p.Asp251Val) | |
| 17 | g.74919775T>C | CA400961899 | USH1G | c.1061A>G (p.Asp354Gly) c.*660A>G (n.*660A>G) c.752A>G (p.Asp251Gly) | |
| 17 | g.74919775T>G | CA400961897 | USH1G | c.1061A>C (p.Asp354Ala) c.*660A>C (n.*660A>C) c.752A>C (p.Asp251Ala) | |
| 17 | g.74919776C>A | CA400961901 | USH1G | c.1060G>T (p.Asp354Tyr) c.*659G>T (n.*659G>T) c.751G>T (p.Asp251Tyr) | ClinVar dbSNP |
| 17 | g.74919776C= | CA2275255256 | USH1G | c.1060G= (p.Asp354=) c.*659G= (n.*659G=) c.751G= (p.Asp251=) | |
| 17 | g.74919776C>G | CA400961902 | USH1G | c.1060G>C (p.Asp354His) c.*659G>C (n.*659G>C) c.751G>C (p.Asp251His) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.74919776C>T | CA400961903 | USH1G | c.1060G>A (p.Asp354Asn) c.*659G>A (n.*659G>A) c.751G>A (p.Asp251Asn) | dbSNP COSMIC |
| 17 | g.74919777G>A | CA502036414 | USH1G | c.1059C>T (p.Asp353=) c.*658C>T (n.*658C>T) c.750C>T (p.Asp250=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919777G>C | CA400961906 | USH1G | c.1059C>G (p.Asp353Glu) c.*658C>G (n.*658C>G) c.750C>G (p.Asp250Glu) | |
| 17 | g.74919777G= | CA2275255257 | USH1G | c.1059C= (p.Asp353=) c.*658C= (n.*658C=) c.750C= (p.Asp250=) | |
| 17 | g.74919777G>T | CA400961908 | USH1G | c.1059C>A (p.Asp353Glu) c.*658C>A (n.*658C>A) c.750C>A (p.Asp250Glu) | |
| 17 | g.74919778T>A | CA400961909 | USH1G | c.1058A>T (p.Asp353Val) c.*657A>T (n.*657A>T) c.749A>T (p.Asp250Val) | |
| 17 | g.74919778T>C | CA400961911 | USH1G | c.1058A>G (p.Asp353Gly) c.*657A>G (n.*657A>G) c.749A>G (p.Asp250Gly) | gnomAD v4 |
| 17 | g.74919778T>G | CA400961913 | USH1G | c.1058A>C (p.Asp353Ala) c.*657A>C (n.*657A>C) c.749A>C (p.Asp250Ala) | |
| 17 | g.74919779C>A | CA400961916 | USH1G | c.1057G>T (p.Asp353Tyr) c.*656G>T (n.*656G>T) c.748G>T (p.Asp250Tyr) | |
| 17 | g.74919779C= | CA2275255258 | USH1G | c.1057G= (p.Asp353=) c.*656G= (n.*656G=) c.748G= (p.Asp250=) | |
| 17 | g.74919779C>G | CA400961917 | USH1G | c.1057G>C (p.Asp353His) c.*656G>C (n.*656G>C) c.748G>C (p.Asp250His) | |
| 17 | g.74919779C>T | CA8753941 | USH1G | c.1057G>A (p.Asp353Asn) c.*656G>A (n.*656G>A) c.748G>A (p.Asp250Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.74919780C>A | CA502036419 | USH1G | c.1056G>T (p.Leu352=) c.*655G>T (n.*655G>T) c.747G>T (p.Leu249=) | |
| 17 | g.74919780C>G | CA502036421 | USH1G | c.1056G>C (p.Leu352=) c.*655G>C (n.*655G>C) c.747G>C (p.Leu249=) | |
| 17 | g.74919780C>T | CA502036422 | USH1G | c.1056G>A (p.Leu352=) c.*655G>A (n.*655G>A) c.747G>A (p.Leu249=) | |
| 17 | g.74919781A= | CA2275255259 | USH1G | c.1055T= (p.Leu352=) c.*654T= (n.*654T=) c.746T= (p.Leu249=) | |
| 17 | g.74919781A>C | CA400961922 | USH1G | c.1055T>G (p.Leu352Arg) c.*654T>G (n.*654T>G) c.746T>G (p.Leu249Arg) | |
| 17 | g.74919781A>G | CA400961924 | USH1G | c.1055T>C (p.Leu352Pro) c.*654T>C (n.*654T>C) c.746T>C (p.Leu249Pro) | dbSNP |
| 17 | g.74919781A>T | CA400961921 | USH1G | c.1055T>A (p.Leu352Gln) c.*654T>A (n.*654T>A) c.746T>A (p.Leu249Gln) | |
| 17 | g.74919782G>A | CA502036424 | USH1G | c.1054C>T (p.Leu352=) c.*653C>T (n.*653C>T) c.745C>T (p.Leu249=) | ClinVar gnomAD v4 |
| 17 | g.74919782G>C | CA400961927 | USH1G | c.1054C>G (p.Leu352Val) c.*653C>G (n.*653C>G) c.745C>G (p.Leu249Val) | |
| 17 | g.74919782G= | CA2275255260 | USH1G | c.1054C= (p.Leu352=) c.*653C= (n.*653C=) c.745C= (p.Leu249=) | |
| 17 | g.74919782G>T | CA293983723 | USH1G | c.1054C>A (p.Leu352Met) c.*653C>A (n.*653C>A) c.745C>A (p.Leu249Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919783G>A | CA502036425 | USH1G | c.1053C>T (p.Ser351=) c.*652C>T (n.*652C>T) c.744C>T (p.Ser248=) | |
| 17 | g.74919783G>C | CA400961929 | USH1G | c.1053C>G (p.Ser351Arg) c.*652C>G (n.*652C>G) c.744C>G (p.Ser248Arg) | |
| 17 | g.74919783G>T | CA400961930 | USH1G | c.1053C>A (p.Ser351Arg) c.*652C>A (n.*652C>A) c.744C>A (p.Ser248Arg) | |
| 17 | g.74919783_74919801del | CA2639747184 | USH1G | c.1035_1053del (p.Leu346TrpfsTer28) c.*634_*652del (n.*634_*652del) c.726_744del (p.Leu243TrpfsTer28) | gnomAD v4 |
| 17 | g.74919784C>A | CA400961932 | USH1G | c.1052G>T (p.Ser351Ile) c.*651G>T (n.*651G>T) c.743G>T (p.Ser248Ile) | |
| 17 | g.74919784C= | CA2275255261 | USH1G | c.1052G= (p.Ser351=) c.*651G= (n.*651G=) c.743G= (p.Ser248=) | |
| 17 | g.74919784C>G | CA400961934 | USH1G | c.1052G>C (p.Ser351Thr) c.*651G>C (n.*651G>C) c.743G>C (p.Ser248Thr) | |
| 17 | g.74919784C>T | CA400961936 | USH1G | c.1052G>A (p.Ser351Asn) c.*651G>A (n.*651G>A) c.743G>A (p.Ser248Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.74919785T>A | CA400961937 | USH1G | c.1051A>T (p.Ser351Cys) c.*650A>T (n.*650A>T) c.742A>T (p.Ser248Cys) | |
| 17 | g.74919785T>C | CA400961939 | USH1G | c.1051A>G (p.Ser351Gly) c.*650A>G (n.*650A>G) c.742A>G (p.Ser248Gly) | |
| 17 | g.74919785T>G | CA400961941 | USH1G | c.1051A>C (p.Ser351Arg) c.*650A>C (n.*650A>C) c.742A>C (p.Ser248Arg) | |
| 17 | g.74919786G>A | CA502036431 | USH1G | c.1050C>T (p.Pro350=) c.*649C>T (n.*649C>T) c.741C>T (p.Pro247=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919786G>C | CA502036432 | USH1G | c.1050C>G (p.Pro350=) c.*649C>G (n.*649C>G) c.741C>G (p.Pro247=) | |
| 17 | g.74919786G= | CA2275255262 | USH1G | c.1050C= (p.Pro350=) c.*649C= (n.*649C=) c.741C= (p.Pro247=) | |
| 17 | g.74919786G>T | CA502036433 | USH1G | c.1050C>A (p.Pro350=) c.*649C>A (n.*649C>A) c.741C>A (p.Pro247=) | dbSNP |
| 17 | g.74919787G>A | CA400961943 | USH1G | c.1049C>T (p.Pro350Leu) c.*648C>T (n.*648C>T) c.740C>T (p.Pro247Leu) | |
| 17 | g.74919787G>C | CA293983728 | USH1G | c.1049C>G (p.Pro350Arg) c.*648C>G (n.*648C>G) c.740C>G (p.Pro247Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919787G= | CA2275255263 | USH1G | c.1049C= (p.Pro350=) c.*648C= (n.*648C=) c.740C= (p.Pro247=) | |
| 17 | g.74919787G>T | CA400961946 | USH1G | c.1049C>A (p.Pro350His) c.*648C>A (n.*648C>A) c.740C>A (p.Pro247His) | |
| 17 | g.74919788G>A | CA8753942 | USH1G | c.1048C>T (p.Pro350Ser) c.*647C>T (n.*647C>T) c.739C>T (p.Pro247Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.74919788G>C | CA400961951 | USH1G | c.1048C>G (p.Pro350Ala) c.*647C>G (n.*647C>G) c.739C>G (p.Pro247Ala) | gnomAD v4 |
| 17 | g.74919788G= | CA2275255264 | USH1G | c.1048C= (p.Pro350=) c.*647C= (n.*647C=) c.739C= (p.Pro247=) | |
| 17 | g.74919788G>T | CA400961948 | USH1G | c.1048C>A (p.Pro350Thr) c.*647C>A (n.*647C>A) c.739C>A (p.Pro247Thr) | |
| 17 | g.74919789G>A | CA502036435 | USH1G | c.1047C>T (p.Ser349=) c.*646C>T (n.*646C>T) c.738C>T (p.Ser246=) | |
| 17 | g.74919789G>C | CA502036437 | USH1G | c.1047C>G (p.Ser349=) c.*646C>G (n.*646C>G) c.738C>G (p.Ser246=) | |
| 17 | g.74919789G>T | CA502036436 | USH1G | c.1047C>A (p.Ser349=) c.*646C>A (n.*646C>A) c.738C>A (p.Ser246=) | |
| 17 | g.74919790G>A | CA8753943 | USH1G | c.1046C>T (p.Ser349Phe) c.*645C>T (n.*645C>T) c.737C>T (p.Ser246Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919790G>C | CA400961954 | USH1G | c.1046C>G (p.Ser349Cys) c.*645C>G (n.*645C>G) c.737C>G (p.Ser246Cys) | |
| 17 | g.74919790G= | CA2275255265 | USH1G | c.1046C= (p.Ser349=) c.*645C= (n.*645C=) c.737C= (p.Ser246=) | |
| 17 | g.74919790G>T | CA400961956 | USH1G | c.1046C>A (p.Ser349Tyr) c.*645C>A (n.*645C>A) c.737C>A (p.Ser246Tyr) | |
| 17 | g.74919791A>C | CA400961958 | USH1G | c.1045T>G (p.Ser349Ala) c.*644T>G (n.*644T>G) c.736T>G (p.Ser246Ala) | |
| 17 | g.74919791A>G | CA400961960 | USH1G | c.1045T>C (p.Ser349Pro) c.*644T>C (n.*644T>C) c.736T>C (p.Ser246Pro) | |
| 17 | g.74919791A>T | CA400961961 | USH1G | c.1045T>A (p.Ser349Thr) c.*644T>A (n.*644T>A) c.736T>A (p.Ser246Thr) | |
| 17 | g.74919792G>A | CA502036444 | USH1G | c.1044C>T (p.Ser348=) c.*643C>T (n.*643C>T) c.735C>T (p.Ser245=) | |
| 17 | g.74919792G>C | CA293983743 | USH1G | c.1044C>G (p.Ser348Arg) c.*643C>G (n.*643C>G) c.735C>G (p.Ser245Arg) | dbSNP |
| 17 | g.74919792G= | CA2275255266 | USH1G | c.1044C= (p.Ser348=) c.*643C= (n.*643C=) c.735C= (p.Ser245=) | |
| 17 | g.74919792G>T | CA400961964 | USH1G | c.1044C>A (p.Ser348Arg) c.*643C>A (n.*643C>A) c.735C>A (p.Ser245Arg) | |
| 17 | g.74919793C>A | CA400961966 | USH1G | c.1043G>T (p.Ser348Ile) c.*642G>T (n.*642G>T) c.734G>T (p.Ser245Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919793C= | CA2275255267 | USH1G | c.1043G= (p.Ser348=) c.*642G= (n.*642G=) c.734G= (p.Ser245=) | |
| 17 | g.74919793C>G | CA400961968 | USH1G | c.1043G>C (p.Ser348Thr) c.*642G>C (n.*642G>C) c.734G>C (p.Ser245Thr) | |
| 17 | g.74919793C>T | CA400961970 | USH1G | c.1043G>A (p.Ser348Asn) c.*642G>A (n.*642G>A) c.734G>A (p.Ser245Asn) | |
| 17 | g.74919794T>A | CA400961972 | USH1G | c.1042A>T (p.Ser348Cys) c.*641A>T (n.*641A>T) c.733A>T (p.Ser245Cys) | |
| 17 | g.74919794T>C | CA400961974 | USH1G | c.1042A>G (p.Ser348Gly) c.*641A>G (n.*641A>G) c.733A>G (p.Ser245Gly) | |
| 17 | g.74919794T>G | CA400961976 | USH1G | c.1042A>C (p.Ser348Arg) c.*641A>C (n.*641A>C) c.733A>C (p.Ser245Arg) | |
| 17 | g.74919795C>A | CA400961978 | USH1G | c.1041G>T (p.Gln347His) c.*640G>T (n.*640G>T) c.732G>T (p.Gln244His) | |
| 17 | g.74919795C>G | CA400961980 | USH1G | c.1041G>C (p.Gln347His) c.*640G>C (n.*640G>C) c.732G>C (p.Gln244His) | |
| 17 | g.74919795C>T | CA502036449 | USH1G | c.1041G>A (p.Gln347=) c.*640G>A (n.*640G>A) c.732G>A (p.Gln244=) | |
| 17 | g.74919796T>A | CA400961982 | USH1G | c.1040A>T (p.Gln347Leu) c.*639A>T (n.*639A>T) c.731A>T (p.Gln244Leu) | |
| 17 | g.74919796T>C | CA400961983 | USH1G | c.1040A>G (p.Gln347Arg) c.*639A>G (n.*639A>G) c.731A>G (p.Gln244Arg) | |
| 17 | g.74919796T>G | CA400961985 | USH1G | c.1040A>C (p.Gln347Pro) c.*639A>C (n.*639A>C) c.731A>C (p.Gln244Pro) | |
| 17 | g.74919797G>A | CA8753944 | USH1G | c.1039C>T (p.Gln347Ter) c.*638C>T (n.*638C>T) c.730C>T (p.Gln244Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.74919797G>C | CA400961988 | USH1G | c.1039C>G (p.Gln347Glu) c.*638C>G (n.*638C>G) c.730C>G (p.Gln244Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.74919797G= | CA2275255268 | USH1G | c.1039C= (p.Gln347=) c.*638C= (n.*638C=) c.730C= (p.Gln244=) | |
| 17 | g.74919797G>T | CA400961989 | USH1G | c.1039C>A (p.Gln347Lys) c.*638C>A (n.*638C>A) c.730C>A (p.Gln244Lys) | |
| 17 | g.74919798C>A | CA502036456 | USH1G | c.1038G>T (p.Leu346=) c.*637G>T (n.*637G>T) c.729G>T (p.Leu243=) | |
| 17 | g.74919798C>G | CA502036452 | USH1G | c.1038G>C (p.Leu346=) c.*637G>C (n.*637G>C) c.729G>C (p.Leu243=) | |
| 17 | g.74919798C>T | CA502036453 | USH1G | c.1038G>A (p.Leu346=) c.*637G>A (n.*637G>A) c.729G>A (p.Leu243=) | gnomAD v4 |
| 17 | g.74919799A>C | CA400961991 | USH1G | c.1037T>G (p.Leu346Arg) c.*636T>G (n.*636T>G) c.728T>G (p.Leu243Arg) | |
| 17 | g.74919799A>G | CA400961993 | USH1G | c.1037T>C (p.Leu346Pro) c.*636T>C (n.*636T>C) c.728T>C (p.Leu243Pro) | |
| 17 | g.74919799A>T | CA400961995 | USH1G | c.1037T>A (p.Leu346Gln) c.*636T>A (n.*636T>A) c.728T>A (p.Leu243Gln) | |
| 17 | g.74919800G>A | CA502036458 | USH1G | c.1036C>T (p.Leu346=) c.*635C>T (n.*635C>T) c.727C>T (p.Leu243=) | |
| 17 | g.74919800G>C | CA400961997 | USH1G | c.1036C>G (p.Leu346Val) c.*635C>G (n.*635C>G) c.727C>G (p.Leu243Val) | |
| 17 | g.74919800G>T | CA400961999 | USH1G | c.1036C>A (p.Leu346Met) c.*635C>A (n.*635C>A) c.727C>A (p.Leu243Met) | |
| 17 | g.74919801C>A | CA502036462 | USH1G | c.1035G>T (p.Arg345=) c.*634G>T (n.*634G>T) c.726G>T (p.Arg242=) | |
| 17 | g.74919801C= | CA2275255269 | USH1G | c.1035G= (p.Arg345=) c.*634G= (n.*634G=) c.726G= (p.Arg242=) | |
| 17 | g.74919801C>G | CA502036463 | USH1G | c.1035G>C (p.Arg345=) c.*634G>C (n.*634G>C) c.726G>C (p.Arg242=) | |
| 17 | g.74919801C>T | CA502036464 | USH1G | c.1035G>A (p.Arg345=) c.*634G>A (n.*634G>A) c.726G>A (p.Arg242=) | dbSNP |