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.74919474_74919481del | CA2639746878 | USH1G | c.1359_1366del (p.Pro454GlyfsTer?) c.*958_*965del (n.*958_*965del) c.1050_1057del (p.Pro351GlyfsTer?) | gnomAD v4 |
| 17 | g.74919476G>A | CA400961024 | USH1G | c.1360C>T (p.Pro454Ser) c.*959C>T (n.*959C>T) c.1051C>T (p.Pro351Ser) | dbSNP |
| 17 | g.74919476G>C | CA400961025 | USH1G | c.1360C>G (p.Pro454Ala) c.*959C>G (n.*959C>G) c.1051C>G (p.Pro351Ala) | |
| 17 | g.74919476G= | CA2275255092 | USH1G | c.1360C= (p.Pro454=) c.*959C= (n.*959C=) c.1051C= (p.Pro351=) | |
| 17 | g.74919476G>T | CA400961026 | USH1G | c.1360C>A (p.Pro454Thr) c.*959C>A (n.*959C>A) c.1051C>A (p.Pro351Thr) | gnomAD v4 |
| 17 | g.74919477C>A | CA502036345 | USH1G | c.1359G>T (p.Pro453=) c.*958G>T (n.*958G>T) c.1050G>T (p.Pro350=) | dbSNP gnomAD v2 |
| 17 | g.74919477C= | CA2275255093 | USH1G | c.1359G= (p.Pro453=) c.*958G= (n.*958G=) c.1050G= (p.Pro350=) | |
| 17 | g.74919477C>G | CA502036346 | USH1G | c.1359G>C (p.Pro453=) c.*958G>C (n.*958G>C) c.1050G>C (p.Pro350=) | |
| 17 | g.74919477C>T | CA502036347 | USH1G | c.1359G>A (p.Pro453=) c.*958G>A (n.*958G>A) c.1050G>A (p.Pro350=) | gnomAD v4 |
| 17 | g.74919478G>A | CA8753878 | USH1G | c.1358C>T (p.Pro453Leu) c.*957C>T (n.*957C>T) c.1049C>T (p.Pro350Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919478G>C | CA400961027 | USH1G | c.1358C>G (p.Pro453Arg) c.*957C>G (n.*957C>G) c.1049C>G (p.Pro350Arg) | |
| 17 | g.74919478G= | CA2275255094 | USH1G | c.1358C= (p.Pro453=) c.*957C= (n.*957C=) c.1049C= (p.Pro350=) | |
| 17 | g.74919478G>T | CA400961028 | USH1G | c.1358C>A (p.Pro453Gln) c.*957C>A (n.*957C>A) c.1049C>A (p.Pro350Gln) | gnomAD v4 |
| 17 | g.74919478_74919479delinsAA | CA645598973 | USH1G | c.1357_1358delinsTT (p.Pro453Leu) c.*956_*957delinsTT (n.*956_*957delinsTT) c.1048_1049delinsTT (p.Pro350Leu) | COSMIC |
| 17 | g.74919478_74919509delinsGGGCGCTCCATCGCCTGCCGCCGCCTCCTCAC | CA2275255095 | USH1G | c.1327_1358delinsGTGAGGAGGCGGCGGCAGGCGATGGAGCGCCC (p.Val443=) c.*926_*957delinsGTGAGGAGGCGGCGGCAGGCGATGGAGCGCCC (n.*926_*957delinsGTGAGGAGGCGGCGGCAGGCGATGGAGCGCCC) c.1018_1049delinsGTGAGGAGGCGGCGGCAGGCGATGGAGCGCCC (p.Val340=) | |
| 17 | g.74919479G>A | CA400961030 | USH1G | c.1357C>T (p.Pro453Ser) c.*956C>T (n.*956C>T) c.1048C>T (p.Pro350Ser) | dbSNP gnomAD v2 |
| 17 | g.74919479G>C | CA400961031 | USH1G | c.1357C>G (p.Pro453Ala) c.*956C>G (n.*956C>G) c.1048C>G (p.Pro350Ala) | |
| 17 | g.74919479G= | CA2275255096 | USH1G | c.1357C= (p.Pro453=) c.*956C= (n.*956C=) c.1048C= (p.Pro350=) | |
| 17 | g.74919479G>T | CA400961029 | USH1G | c.1357C>A (p.Pro453Thr) c.*956C>A (n.*956C>A) c.1048C>A (p.Pro350Thr) | |
| 17 | g.74919482_74919512del | CA2275255097 | USH1G | c.1327_1357del (p.Val443ArgfsTer?) c.*926_*956del (n.*926_*956del) c.1018_1048del (p.Val340ArgfsTer?) | dbSNP |
| 17 | g.74919480G>A | CA502036350 | USH1G | c.1356C>T (p.Arg452=) c.*955C>T (n.*955C>T) c.1047C>T (p.Arg349=) | gnomAD v4 |
| 17 | g.74919480G>C | CA502036349 | USH1G | c.1356C>G (p.Arg452=) c.*955C>G (n.*955C>G) c.1047C>G (p.Arg349=) | |
| 17 | g.74919480G>T | CA502036348 | USH1G | c.1356C>A (p.Arg452=) c.*955C>A (n.*955C>A) c.1047C>A (p.Arg349=) | |
| 17 | g.74919481C>A | CA400961032 | USH1G | c.1355G>T (p.Arg452Leu) c.*954G>T (n.*954G>T) c.1046G>T (p.Arg349Leu) | |
| 17 | g.74919481C= | CA2275255098 | USH1G | c.1355G= (p.Arg452=) c.*954G= (n.*954G=) c.1046G= (p.Arg349=) | |
| 17 | g.74919481C>G | CA400961033 | USH1G | c.1355G>C (p.Arg452Pro) c.*954G>C (n.*954G>C) c.1046G>C (p.Arg349Pro) | |
| 17 | g.74919481C>T | CA8753879 | USH1G | c.1355G>A (p.Arg452His) c.*954G>A (n.*954G>A) c.1046G>A (p.Arg349His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919482G>A | CA8753880 | USH1G | c.1354C>T (p.Arg452Cys) c.*953C>T (n.*953C>T) c.1045C>T (p.Arg349Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919482G>C | CA400961034 | USH1G | c.1354C>G (p.Arg452Gly) c.*953C>G (n.*953C>G) c.1045C>G (p.Arg349Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.74919482G= | CA2275255100 | USH1G | c.1354C= (p.Arg452=) c.*953C= (n.*953C=) c.1045C= (p.Arg349=) | |
| 17 | g.74919482G>T | CA400961035 | USH1G | c.1354C>A (p.Arg452Ser) c.*953C>A (n.*953C>A) c.1045C>A (p.Arg349Ser) | gnomAD v4 |
| 17 | g.74919482dup | CA2275255099 | USH1G | c.1354dup (p.Arg452ProfsTer?) c.*953dup (n.*953dup) c.1045dup (p.Arg349ProfsTer?) | dbSNP |
| 17 | g.74919483C>A | CA400961037 | USH1G | c.1353G>T (p.Glu451Asp) c.*952G>T (n.*952G>T) c.1044G>T (p.Glu348Asp) | |
| 17 | g.74919483C>G | CA400961036 | USH1G | c.1353G>C (p.Glu451Asp) c.*952G>C (n.*952G>C) c.1044G>C (p.Glu348Asp) | |
| 17 | g.74919483C>T | CA502036351 | USH1G | c.1353G>A (p.Glu451=) c.*952G>A (n.*952G>A) c.1044G>A (p.Glu348=) | gnomAD v4 |
| 17 | g.74919484_74919485del | CA2639746898 | USH1G | c.1352_1353del (p.Glu451AlafsTer?) c.*951_*952del (n.*951_*952del) c.1043_1044del (p.Glu348AlafsTer?) | ClinVar gnomAD v4 |
| 17 | g.74919484T>A | CA400961038 | USH1G | c.1352A>T (p.Glu451Val) c.*951A>T (n.*951A>T) c.1043A>T (p.Glu348Val) | |
| 17 | g.74919484T>C | CA400961039 | USH1G | c.1352A>G (p.Glu451Gly) c.*951A>G (n.*951A>G) c.1043A>G (p.Glu348Gly) | |
| 17 | g.74919484T>G | CA400961040 | USH1G | c.1352A>C (p.Glu451Ala) c.*951A>C (n.*951A>C) c.1043A>C (p.Glu348Ala) | |
| 17 | g.74919485C>A | CA400961041 | USH1G | c.1351G>T (p.Glu451Ter) c.*950G>T (n.*950G>T) c.1042G>T (p.Glu348Ter) | |
| 17 | g.74919485C= | CA2275255101 | USH1G | c.1351G= (p.Glu451=) c.*950G= (n.*950G=) c.1042G= (p.Glu348=) | |
| 17 | g.74919485C>G | CA400961042 | USH1G | c.1351G>C (p.Glu451Gln) c.*950G>C (n.*950G>C) c.1042G>C (p.Glu348Gln) | |
| 17 | g.74919485C>T | CA400961043 | USH1G | c.1351G>A (p.Glu451Lys) c.*950G>A (n.*950G>A) c.1042G>A (p.Glu348Lys) | dbSNP gnomAD v2 |
| 17 | g.74919486C>A | CA400961047 | USH1G | c.1350G>T (p.Met450Ile) c.*949G>T (n.*949G>T) c.1041G>T (p.Met347Ile) | |
| 17 | g.74919486C>G | CA400961045 | USH1G | c.1350G>C (p.Met450Ile) c.*949G>C (n.*949G>C) c.1041G>C (p.Met347Ile) | |
| 17 | g.74919486C>T | CA400961044 | USH1G | c.1350G>A (p.Met450Ile) c.*949G>A (n.*949G>A) c.1041G>A (p.Met347Ile) | |
| 17 | g.74919487A= | CA2275255102 | USH1G | c.1349T= (p.Met450=) c.*948T= (n.*948T=) c.1040T= (p.Met347=) | |
| 17 | g.74919487A>C | CA400961050 | USH1G | c.1349T>G (p.Met450Arg) c.*948T>G (n.*948T>G) c.1040T>G (p.Met347Arg) | |
| 17 | g.74919487A>G | CA400961052 | USH1G | c.1349T>C (p.Met450Thr) c.*948T>C (n.*948T>C) c.1040T>C (p.Met347Thr) | dbSNP |
| 17 | g.74919487A>T | CA400961051 | USH1G | c.1349T>A (p.Met450Lys) c.*948T>A (n.*948T>A) c.1040T>A (p.Met347Lys) | |
| 17 | g.74919488T>A | CA400961055 | USH1G | c.1348A>T (p.Met450Leu) c.*947A>T (n.*947A>T) c.1039A>T (p.Met347Leu) | |
| 17 | g.74919488T>C | CA400961058 | USH1G | c.1348A>G (p.Met450Val) c.*947A>G (n.*947A>G) c.1039A>G (p.Met347Val) | dbSNP |
| 17 | g.74919488T>G | CA400961057 | USH1G | c.1348A>C (p.Met450Leu) c.*947A>C (n.*947A>C) c.1039A>C (p.Met347Leu) | |
| 17 | g.74919488T= | CA2275255103 | USH1G | c.1348A= (p.Met450=) c.*947A= (n.*947A=) c.1039A= (p.Met347=) | |
| 17 | g.74919489C>A | CA502036352 | USH1G | c.1347G>T (p.Ala449=) c.*946G>T (n.*946G>T) c.1038G>T (p.Ala346=) | dbSNP gnomAD v2 |
| 17 | g.74919489C= | CA2275255104 | USH1G | c.1347G= (p.Ala449=) c.*946G= (n.*946G=) c.1038G= (p.Ala346=) | |
| 17 | g.74919489C>G | CA502036354 | USH1G | c.1347G>C (p.Ala449=) c.*946G>C (n.*946G>C) c.1038G>C (p.Ala346=) | |
| 17 | g.74919489C>T | CA502036353 | USH1G | c.1347G>A (p.Ala449=) c.*946G>A (n.*946G>A) c.1038G>A (p.Ala346=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.74919490G>A | CA400961061 | USH1G | c.1346C>T (p.Ala449Val) c.*945C>T (n.*945C>T) c.1037C>T (p.Ala346Val) | gnomAD v4 |
| 17 | g.74919490G>C | CA293983381 | USH1G | c.1346C>G (p.Ala449Gly) c.*945C>G (n.*945C>G) c.1037C>G (p.Ala346Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919490G= | CA2275255105 | USH1G | c.1346C= (p.Ala449=) c.*945C= (n.*945C=) c.1037C= (p.Ala346=) | |
| 17 | g.74919490G>T | CA400961063 | USH1G | c.1346C>A (p.Ala449Glu) c.*945C>A (n.*945C>A) c.1037C>A (p.Ala346Glu) | gnomAD v4 |
| 17 | g.74919491C>A | CA400961066 | USH1G | c.1345G>T (p.Ala449Ser) c.*944G>T (n.*944G>T) c.1036G>T (p.Ala346Ser) | gnomAD v4 COSMIC |
| 17 | g.74919491C= | CA2275255106 | USH1G | c.1345G= (p.Ala449=) c.*944G= (n.*944G=) c.1036G= (p.Ala346=) | |
| 17 | g.74919491C>G | CA400961067 | USH1G | c.1345G>C (p.Ala449Pro) c.*944G>C (n.*944G>C) c.1036G>C (p.Ala346Pro) | |
| 17 | g.74919491C>T | CA400961069 | USH1G | c.1345G>A (p.Ala449Thr) c.*944G>A (n.*944G>A) c.1036G>A (p.Ala346Thr) | dbSNP |
| 17 | g.74919492C>A | CA400961072 | USH1G | c.1344G>T (p.Gln448His) c.*943G>T (n.*943G>T) c.1035G>T (p.Gln345His) | gnomAD v4 |
| 17 | g.74919492C>G | CA400961073 | USH1G | c.1344G>C (p.Gln448His) c.*943G>C (n.*943G>C) c.1035G>C (p.Gln345His) | |
| 17 | g.74919492C>T | CA502036355 | USH1G | c.1344G>A (p.Gln448=) c.*943G>A (n.*943G>A) c.1035G>A (p.Gln345=) | |
| 17 | g.74919493T>A | CA400961074 | USH1G | c.1343A>T (p.Gln448Leu) c.*942A>T (n.*942A>T) c.1034A>T (p.Gln345Leu) | |
| 17 | g.74919493T>C | CA400961077 | USH1G | c.1343A>G (p.Gln448Arg) c.*942A>G (n.*942A>G) c.1034A>G (p.Gln345Arg) | |
| 17 | g.74919493T>G | CA400961076 | USH1G | c.1343A>C (p.Gln448Pro) c.*942A>C (n.*942A>C) c.1034A>C (p.Gln345Pro) | dbSNP |
| 17 | g.74919493T= | CA2275255107 | USH1G | c.1343A= (p.Gln448=) c.*942A= (n.*942A=) c.1034A= (p.Gln345=) | |
| 17 | g.74919494G>A | CA400961081 | USH1G | c.1342C>T (p.Gln448Ter) c.*941C>T (n.*941C>T) c.1033C>T (p.Gln345Ter) | |
| 17 | g.74919494G>C | CA400961082 | USH1G | c.1342C>G (p.Gln448Glu) c.*941C>G (n.*941C>G) c.1033C>G (p.Gln345Glu) | |
| 17 | g.74919494G>T | CA400961083 | USH1G | c.1342C>A (p.Gln448Lys) c.*941C>A (n.*941C>A) c.1033C>A (p.Gln345Lys) | |
| 17 | g.74919500_74919502dup | CA8753881 | USH1G | c.1340_1342dup (p.Arg447_Gln448insArg) c.*939_*941dup (n.*939_*941dup) c.1031_1033dup (p.Arg344_Gln345insArg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919495C>A | CA502036356 | USH1G | c.1341G>T (p.Arg447=) c.*940G>T (n.*940G>T) c.1032G>T (p.Arg344=) | |
| 17 | g.74919495C>G | CA502036357 | USH1G | c.1341G>C (p.Arg447=) c.*940G>C (n.*940G>C) c.1032G>C (p.Arg344=) | |
| 17 | g.74919495C>T | CA502036358 | USH1G | c.1341G>A (p.Arg447=) c.*940G>A (n.*940G>A) c.1032G>A (p.Arg344=) | gnomAD v4 |
| 17 | g.74919496C>A | CA400961085 | USH1G | c.1340G>T (p.Arg447Leu) c.*939G>T (n.*939G>T) c.1031G>T (p.Arg344Leu) | |
| 17 | g.74919496C= | CA2275255108 | USH1G | c.1340G= (p.Arg447=) c.*939G= (n.*939G=) c.1031G= (p.Arg344=) | |
| 17 | g.74919496C>G | CA400961087 | USH1G | c.1340G>C (p.Arg447Pro) c.*939G>C (n.*939G>C) c.1031G>C (p.Arg344Pro) | gnomAD v4 |
| 17 | g.74919496C>T | CA8753882 | USH1G | c.1340G>A (p.Arg447Gln) c.*939G>A (n.*939G>A) c.1031G>A (p.Arg344Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919497G>A | CA8753883 | USH1G | c.1339C>T (p.Arg447Trp) c.*938C>T (n.*938C>T) c.1030C>T (p.Arg344Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919497G>C | CA400961090 | USH1G | c.1339C>G (p.Arg447Gly) c.*938C>G (n.*938C>G) c.1030C>G (p.Arg344Gly) | dbSNP |
| 17 | g.74919497G= | CA2275255109 | USH1G | c.1339C= (p.Arg447=) c.*938C= (n.*938C=) c.1030C= (p.Arg344=) | |
| 17 | g.74919497G>T | CA502036359 | USH1G | c.1339C>A (p.Arg447=) c.*938C>A (n.*938C>A) c.1030C>A (p.Arg344=) | |
| 17 | g.74919498C>A | CA502036360 | USH1G | c.1338G>T (p.Arg446=) c.*937G>T (n.*937G>T) c.1029G>T (p.Arg343=) | |
| 17 | g.74919498C>G | CA502036361 | USH1G | c.1338G>C (p.Arg446=) c.*937G>C (n.*937G>C) c.1029G>C (p.Arg343=) | |
| 17 | g.74919498C>T | CA502036362 | USH1G | c.1338G>A (p.Arg446=) c.*937G>A (n.*937G>A) c.1029G>A (p.Arg343=) | |
| 17 | g.74919499C>A | CA400961091 | USH1G | c.1337G>T (p.Arg446Leu) c.*936G>T (n.*936G>T) c.1028G>T (p.Arg343Leu) | |
| 17 | g.74919499C= | CA2275255110 | USH1G | c.1337G= (p.Arg446=) c.*936G= (n.*936G=) c.1028G= (p.Arg343=) | |
| 17 | g.74919499C>G | CA400961093 | USH1G | c.1337G>C (p.Arg446Pro) c.*936G>C (n.*936G>C) c.1028G>C (p.Arg343Pro) | |
| 17 | g.74919499C>T | CA8753884 | USH1G | c.1337G>A (p.Arg446Gln) c.*936G>A (n.*936G>A) c.1028G>A (p.Arg343Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919500G>A | CA400961096 | USH1G | c.1336C>T (p.Arg446Trp) c.*935C>T (n.*935C>T) c.1027C>T (p.Arg343Trp) | gnomAD v4 |
| 17 | g.74919500G>C | CA400961098 | USH1G | c.1336C>G (p.Arg446Gly) c.*935C>G (n.*935C>G) c.1027C>G (p.Arg343Gly) | |
| 17 | g.74919500G= | CA2275255111 | USH1G | c.1336C= (p.Arg446=) c.*935C= (n.*935C=) c.1027C= (p.Arg343=) | |
| 17 | g.74919500G>T | CA8753886 | USH1G | c.1336C>A (p.Arg446=) c.*935C>A (n.*935C>A) c.1027C>A (p.Arg343=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919501C>A | CA400961101 | USH1G | c.1335G>T (p.Arg445Ser) c.*934G>T (n.*934G>T) c.1026G>T (p.Arg342Ser) | |
| 17 | g.74919501C>G | CA400961103 | USH1G | c.1335G>C (p.Arg445Ser) c.*934G>C (n.*934G>C) c.1026G>C (p.Arg342Ser) | |
| 17 | g.74919501C>T | CA502036363 | USH1G | c.1335G>A (p.Arg445=) c.*934G>A (n.*934G>A) c.1026G>A (p.Arg342=) | |
| 17 | g.74919505_74919507dup | CA8753885 | USH1G | c.1333_1335dup (p.Arg445_Arg446insArg) c.*932_*934dup (n.*932_*934dup) c.1024_1026dup (p.Arg342_Arg343insArg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919502C>A | CA400961105 | USH1G | c.1334G>T (p.Arg445Met) c.*933G>T (n.*933G>T) c.1025G>T (p.Arg342Met) | |
| 17 | g.74919502C>G | CA400961108 | USH1G | c.1334G>C (p.Arg445Thr) c.*933G>C (n.*933G>C) c.1025G>C (p.Arg342Thr) | |
| 17 | g.74919502C>T | CA400961106 | USH1G | c.1334G>A (p.Arg445Lys) c.*933G>A (n.*933G>A) c.1025G>A (p.Arg342Lys) | |
| 17 | g.74919503T>A | CA400961110 | USH1G | c.1333A>T (p.Arg445Trp) c.*932A>T (n.*932A>T) c.1024A>T (p.Arg342Trp) | |
| 17 | g.74919503T>C | CA400961112 | USH1G | c.1333A>G (p.Arg445Gly) c.*932A>G (n.*932A>G) c.1024A>G (p.Arg342Gly) | |
| 17 | g.74919503T>G | CA293983397 | USH1G | c.1333A>C (p.Arg445=) c.*932A>C (n.*932A>C) c.1024A>C (p.Arg342=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919503T= | CA2275255112 | USH1G | c.1333A= (p.Arg445=) c.*932A= (n.*932A=) c.1024A= (p.Arg342=) | |
| 17 | g.74919504C>A | CA400961115 | USH1G | c.1332G>T (p.Arg444Ser) c.*931G>T (n.*931G>T) c.1023G>T (p.Arg341Ser) | |
| 17 | g.74919504C>G | CA400961117 | USH1G | c.1332G>C (p.Arg444Ser) c.*931G>C (n.*931G>C) c.1023G>C (p.Arg341Ser) | |
| 17 | g.74919504C>T | CA502036364 | USH1G | c.1332G>A (p.Arg444=) c.*931G>A (n.*931G>A) c.1023G>A (p.Arg341=) | |
| 17 | g.74919505C>A | CA293983398 | USH1G | c.1331G>T (p.Arg444Met) c.*930G>T (n.*930G>T) c.1022G>T (p.Arg341Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.74919505C= | CA2275255113 | USH1G | c.1331G= (p.Arg444=) c.*930G= (n.*930G=) c.1022G= (p.Arg341=) | |
| 17 | g.74919505C>G | CA400961119 | USH1G | c.1331G>C (p.Arg444Thr) c.*930G>C (n.*930G>C) c.1022G>C (p.Arg341Thr) | |
| 17 | g.74919505C>T | CA400961122 | USH1G | c.1331G>A (p.Arg444Lys) c.*930G>A (n.*930G>A) c.1022G>A (p.Arg341Lys) | |
| 17 | g.74919506T>A | CA400961124 | USH1G | c.1330A>T (p.Arg444Trp) c.*929A>T (n.*929A>T) c.1021A>T (p.Arg341Trp) | |
| 17 | g.74919506T>C | CA400961126 | USH1G | c.1330A>G (p.Arg444Gly) c.*929A>G (n.*929A>G) c.1021A>G (p.Arg341Gly) | |
| 17 | g.74919506T>G | CA502036365 | USH1G | c.1330A>C (p.Arg444=) c.*929A>C (n.*929A>C) c.1021A>C (p.Arg341=) | |
| 17 | g.74919507C>A | CA502036366 | USH1G | c.1329G>T (p.Val443=) c.*928G>T (n.*928G>T) c.1020G>T (p.Val340=) | |
| 17 | g.74919507C>G | CA502036367 | USH1G | c.1329G>C (p.Val443=) c.*928G>C (n.*928G>C) c.1020G>C (p.Val340=) | |
| 17 | g.74919507C>T | CA502036368 | USH1G | c.1329G>A (p.Val443=) c.*928G>A (n.*928G>A) c.1020G>A (p.Val340=) | COSMIC |
| 17 | g.74919508A= | CA2275255114 | USH1G | c.1328T= (p.Val443=) c.*927T= (n.*927T=) c.1019T= (p.Val340=) | |
| 17 | g.74919508A>C | CA400961128 | USH1G | c.1328T>G (p.Val443Gly) c.*927T>G (n.*927T>G) c.1019T>G (p.Val340Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.74919508A>G | CA400961130 | USH1G | c.1328T>C (p.Val443Ala) c.*927T>C (n.*927T>C) c.1019T>C (p.Val340Ala) | gnomAD v4 |
| 17 | g.74919508A>T | CA400961132 | USH1G | c.1328T>A (p.Val443Glu) c.*927T>A (n.*927T>A) c.1019T>A (p.Val340Glu) | |
| 17 | g.74919509C>A | CA400961138 | USH1G | c.1327G>T (p.Val443Leu) c.*926G>T (n.*926G>T) c.1018G>T (p.Val340Leu) | |
| 17 | g.74919509C= | CA2275255115 | USH1G | c.1327G= (p.Val443=) c.*926G= (n.*926G=) c.1018G= (p.Val340=) | |
| 17 | g.74919509C>G | CA400961134 | USH1G | c.1327G>C (p.Val443Leu) c.*926G>C (n.*926G>C) c.1018G>C (p.Val340Leu) | |
| 17 | g.74919509C>T | CA400961136 | USH1G | c.1327G>A (p.Val443Met) c.*926G>A (n.*926G>A) c.1018G>A (p.Val340Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919510G>A | CA502036369 | USH1G | c.1326C>T (p.Ala442=) c.*925C>T (n.*925C>T) c.1017C>T (p.Ala339=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.74919510G>C | CA8753887 | USH1G | c.1326C>G (p.Ala442=) c.*925C>G (n.*925C>G) c.1017C>G (p.Ala339=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919510G= | CA2275255116 | USH1G | c.1326C= (p.Ala442=) c.*925C= (n.*925C=) c.1017C= (p.Ala339=) | |
| 17 | g.74919510G>T | CA502036370 | USH1G | c.1326C>A (p.Ala442=) c.*925C>A (n.*925C>A) c.1017C>A (p.Ala339=) | gnomAD v4 |
| 17 | g.74919511G>A | CA400961141 | USH1G | c.1325C>T (p.Ala442Val) c.*924C>T (n.*924C>T) c.1016C>T (p.Ala339Val) | gnomAD v4 |
| 17 | g.74919511G>C | CA400961143 | USH1G | c.1325C>G (p.Ala442Gly) c.*924C>G (n.*924C>G) c.1016C>G (p.Ala339Gly) | |
| 17 | g.74919511G>T | CA400961145 | USH1G | c.1325C>A (p.Ala442Asp) c.*924C>A (n.*924C>A) c.1016C>A (p.Ala339Asp) | ClinVar |
| 17 | g.74919512C>A | CA400961148 | USH1G | c.1324G>T (p.Ala442Ser) c.*923G>T (n.*923G>T) c.1015G>T (p.Ala339Ser) | |
| 17 | g.74919512C>G | CA400961149 | USH1G | c.1324G>C (p.Ala442Pro) c.*923G>C (n.*923G>C) c.1015G>C (p.Ala339Pro) | |
| 17 | g.74919512C>T | CA400961151 | USH1G | c.1324G>A (p.Ala442Thr) c.*923G>A (n.*923G>A) c.1015G>A (p.Ala339Thr) | |
| 17 | g.74919516del | CA2580095145 | USH1G | c.1324del (p.Ala442ProfsTer2) c.*923del (n.*923del) c.1015del (p.Ala339ProfsTer2) | ClinVar |
| 17 | g.74919513C>A | CA502036371 | USH1G | c.1323G>T (p.Gly441=) c.*922G>T (n.*922G>T) c.1014G>T (p.Gly338=) | |
| 17 | g.74919513C>G | CA502036372 | USH1G | c.1323G>C (p.Gly441=) c.*922G>C (n.*922G>C) c.1014G>C (p.Gly338=) | |
| 17 | g.74919513C>T | CA502036373 | USH1G | c.1323G>A (p.Gly441=) c.*922G>A (n.*922G>A) c.1014G>A (p.Gly338=) | |
| 17 | g.74919514C>A | CA400961154 | USH1G | c.1322G>T (p.Gly441Val) c.*921G>T (n.*921G>T) c.1013G>T (p.Gly338Val) | |
| 17 | g.74919514C= | CA2275255117 | USH1G | c.1322G= (p.Gly441=) c.*921G= (n.*921G=) c.1013G= (p.Gly338=) | |
| 17 | g.74919514C>G | CA400961156 | USH1G | c.1322G>C (p.Gly441Ala) c.*921G>C (n.*921G>C) c.1013G>C (p.Gly338Ala) | |
| 17 | g.74919514C>T | CA400961157 | USH1G | c.1322G>A (p.Gly441Glu) c.*921G>A (n.*921G>A) c.1013G>A (p.Gly338Glu) | dbSNP |
| 17 | g.74919515C>A | CA400961163 | USH1G | c.1321G>T (p.Gly441Trp) c.*920G>T (n.*920G>T) c.1012G>T (p.Gly338Trp) | |
| 17 | g.74919515C>G | CA400961162 | USH1G | c.1321G>C (p.Gly441Arg) c.*920G>C (n.*920G>C) c.1012G>C (p.Gly338Arg) | |
| 17 | g.74919515C>T | CA400961160 | USH1G | c.1321G>A (p.Gly441Arg) c.*920G>A (n.*920G>A) c.1012G>A (p.Gly338Arg) | gnomAD v4 |
| 17 | g.74919516C>A | CA400961165 | USH1G | c.1320G>T (p.Leu440Phe) c.*919G>T (n.*919G>T) c.1011G>T (p.Leu337Phe) | |
| 17 | g.74919516C>G | CA400961167 | USH1G | c.1320G>C (p.Leu440Phe) c.*919G>C (n.*919G>C) c.1011G>C (p.Leu337Phe) | |
| 17 | g.74919516C>T | CA502036374 | USH1G | c.1320G>A (p.Leu440=) c.*919G>A (n.*919G>A) c.1011G>A (p.Leu337=) | |
| 17 | g.74919517A>C | CA400961169 | USH1G | c.1319T>G (p.Leu440Trp) c.*918T>G (n.*918T>G) c.1010T>G (p.Leu337Trp) | |
| 17 | g.74919517A>G | CA400961170 | USH1G | c.1319T>C (p.Leu440Ser) c.*918T>C (n.*918T>C) c.1010T>C (p.Leu337Ser) | |
| 17 | g.74919517A>T | CA400961172 | USH1G | c.1319T>A (p.Leu440Ter) c.*918T>A (n.*918T>A) c.1010T>A (p.Leu337Ter) | |
| 17 | g.74919517_74919518delinsGC | CA2573154820 | USH1G | c.1318_1319delinsGC (p.Leu440Ala) c.*917_*918delinsGC (n.*917_*918delinsGC) c.1009_1010delinsGC (p.Leu337Ala) | ClinVar dbSNP |
| 17 | g.74919518A= | CA2275255118 | USH1G | c.1318T= (p.Leu440=) c.*917T= (n.*917T=) c.1009T= (p.Leu337=) | |
| 17 | g.74919518A>C | CA400961174 | USH1G | c.1318T>G (p.Leu440Val) c.*917T>G (n.*917T>G) c.1009T>G (p.Leu337Val) | |
| 17 | g.74919518A>G | CA8753888 | USH1G | c.1318T>C (p.Leu440=) c.*917T>C (n.*917T>C) c.1009T>C (p.Leu337=) | ClinVar dbSNP ExAC gnomAD v4 |
| 17 | g.74919518A>T | CA400961177 | USH1G | c.1318T>A (p.Leu440Met) c.*917T>A (n.*917T>A) c.1009T>A (p.Leu337Met) | dbSNP gnomAD v4 |
| 17 | g.74919519G>A | CA502036375 | USH1G | c.1317C>T (p.Ile439=) c.*916C>T (n.*916C>T) c.1008C>T (p.Ile336=) | |
| 17 | g.74919519G>C | CA400961179 | USH1G | c.1317C>G (p.Ile439Met) c.*916C>G (n.*916C>G) c.1008C>G (p.Ile336Met) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.74919519G= | CA2275255119 | USH1G | c.1317C= (p.Ile439=) c.*916C= (n.*916C=) c.1008C= (p.Ile336=) | |
| 17 | g.74919519G>T | CA8753889 | USH1G | c.1317C>A (p.Ile439=) c.*916C>A (n.*916C>A) c.1008C>A (p.Ile336=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919520A= | CA2275255120 | USH1G | c.1316T= (p.Ile439=) c.*915T= (n.*915T=) c.1007T= (p.Ile336=) | |
| 17 | g.74919520A>C | CA400961181 | USH1G | c.1316T>G (p.Ile439Ser) c.*915T>G (n.*915T>G) c.1007T>G (p.Ile336Ser) | |
| 17 | g.74919520A>G | CA400961182 | USH1G | c.1316T>C (p.Ile439Thr) c.*915T>C (n.*915T>C) c.1007T>C (p.Ile336Thr) | |
| 17 | g.74919520A>T | CA400961185 | USH1G | c.1316T>A (p.Ile439Asn) c.*915T>A (n.*915T>A) c.1007T>A (p.Ile336Asn) | |
| 17 | g.74919520_74919521insC | CA2275255121 | USH1G | c.1315_1316insG (p.Ile439SerfsTer?) c.*914_*915insG (n.*914_*915insG) c.1006_1007insG (p.Ile336SerfsTer?) | dbSNP |
| 17 | g.74919520_74919521insCGC | CA986277473 | USH1G | c.1315_1316insGCG (p.Ile439delinsSerVal) c.*914_*915insGCG (n.*914_*915insGCG) c.1006_1007insGCG (p.Ile336delinsSerVal) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919521T>A | CA400961191 | USH1G | c.1315A>T (p.Ile439Phe) c.*914A>T (n.*914A>T) c.1006A>T (p.Ile336Phe) | |
| 17 | g.74919521T>C | CA400961190 | USH1G | c.1315A>G (p.Ile439Val) c.*914A>G (n.*914A>G) c.1006A>G (p.Ile336Val) | |
| 17 | g.74919521T>G | CA400961188 | USH1G | c.1315A>C (p.Ile439Leu) c.*914A>C (n.*914A>C) c.1006A>C (p.Ile336Leu) | dbSNP |
| 17 | g.74919521T= | CA2275255122 | USH1G | c.1315A= (p.Ile439=) c.*914A= (n.*914A=) c.1006A= (p.Ile336=) | |
| 17 | g.74919525_74919527del | CA2639746947 | USH1G | c.1313_1315del (p.Lys438del) c.*912_*914del (n.*912_*914del) c.1004_1006del (p.Lys335del) | gnomAD v4 |
| 17 | g.74919522C>A | CA400961193 | USH1G | c.1314G>T (p.Lys438Asn) c.*913G>T (n.*913G>T) c.1005G>T (p.Lys335Asn) | |
| 17 | g.74919522C= | CA2275255125 | USH1G | c.1314G= (p.Lys438=) c.*913G= (n.*913G=) c.1005G= (p.Lys335=) | |
| 17 | g.74919522C>G | CA293983420 | USH1G | c.1314G>C (p.Lys438Asn) c.*913G>C (n.*913G>C) c.1005G>C (p.Lys335Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919522C>T | CA502036376 | USH1G | c.1314G>A (p.Lys438=) c.*913G>A (n.*913G>A) c.1005G>A (p.Lys335=) | |
| 17 | g.74919522_74919523delinsCT | CA2275255123 | USH1G | c.1313_1314delinsAG (p.Lys438=) c.*912_*913delinsAG (n.*912_*913delinsAG) c.1004_1005delinsAG (p.Lys335=) | |
| 17 | g.74919522_74919523delinsGA | CA916083625 | USH1G | c.1313_1314delinsTC (p.Lys438Ile) c.*912_*913delinsTC (n.*912_*913delinsTC) c.1004_1005delinsTC (p.Lys335Ile) | ClinVar dbSNP |
| 17 | g.74919522_74919524delinsCTT | CA2275255124 | USH1G | c.1312_1314delinsAAG (p.Lys438=) c.*911_*913delinsAAG (n.*911_*913delinsAAG) c.1003_1005delinsAAG (p.Lys335=) | |
| 17 | g.74919523T>A | CA293983422 | USH1G | c.1313A>T (p.Lys438Met) c.*912A>T (n.*912A>T) c.1004A>T (p.Lys335Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919523T>C | CA400961195 | USH1G | c.1313A>G (p.Lys438Arg) c.*912A>G (n.*912A>G) c.1004A>G (p.Lys335Arg) | gnomAD v4 |
| 17 | g.74919523T>G | CA400961198 | USH1G | c.1313A>C (p.Lys438Thr) c.*912A>C (n.*912A>C) c.1004A>C (p.Lys335Thr) | |
| 17 | g.74919523T= | CA2275255126 | USH1G | c.1313A= (p.Lys438=) c.*912A= (n.*912A=) c.1004A= (p.Lys335=) | |
| 17 | g.74919523_74919524del | CA986277478 | USH1G | c.1312_1313del (p.Lys438AspfsTer?) c.*911_*912del (n.*911_*912del) c.1003_1004del (p.Lys335AspfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919524T>A | CA400961199 | USH1G | c.1312A>T (p.Lys438Ter) c.*911A>T (n.*911A>T) c.1003A>T (p.Lys335Ter) | |
| 17 | g.74919524T>C | CA400961201 | USH1G | c.1312A>G (p.Lys438Glu) c.*911A>G (n.*911A>G) c.1003A>G (p.Lys335Glu) | dbSNP gnomAD v4 |
| 17 | g.74919524T>G | CA400961203 | USH1G | c.1312A>C (p.Lys438Gln) c.*911A>C (n.*911A>C) c.1003A>C (p.Lys335Gln) | |
| 17 | g.74919524T= | CA2275255128 | USH1G | c.1312A= (p.Lys438=) c.*911A= (n.*911A=) c.1003A= (p.Lys335=) | |
| 17 | g.74919524_74919525delinsTC | CA2275255127 | USH1G | c.1311_1312delinsGA (p.Lys437=) c.*910_*911delinsGA (n.*910_*911delinsGA) c.1002_1003delinsGA (p.Lys334=) | |
| 17 | g.74919525del | CA10605752 | USH1G | c.1311del (p.Lys438ArgfsTer6) c.*910del (n.*910del) c.1002del (p.Lys335ArgfsTer6) | ClinVar dbSNP |
| 17 | g.74919525C>A | CA400961205 | USH1G | c.1311G>T (p.Lys437Asn) c.*910G>T (n.*910G>T) c.1002G>T (p.Lys334Asn) | |
| 17 | g.74919525C>G | CA400961207 | USH1G | c.1311G>C (p.Lys437Asn) c.*910G>C (n.*910G>C) c.1002G>C (p.Lys334Asn) | |
| 17 | g.74919525C>T | CA502036377 | USH1G | c.1311G>A (p.Lys437=) c.*910G>A (n.*910G>A) c.1002G>A (p.Lys334=) | COSMIC |
| 17 | g.74919525_74919531delinsCTTTCGG | CA2275255129 | USH1G | c.1305_1311delinsCCGAAAG (p.Pro435=) c.*904_*910delinsCCGAAAG (n.*904_*910delinsCCGAAAG) c.996_1002delinsCCGAAAG (p.Pro332=) | |
| 17 | g.74919526T>A | CA400961210 | USH1G | c.1310A>T (p.Lys437Met) c.*909A>T (n.*909A>T) c.1001A>T (p.Lys334Met) | |
| 17 | g.74919526T>C | CA400961211 | USH1G | c.1310A>G (p.Lys437Arg) c.*909A>G (n.*909A>G) c.1001A>G (p.Lys334Arg) | gnomAD v4 |
| 17 | g.74919526T>G | CA400961213 | USH1G | c.1310A>C (p.Lys437Thr) c.*909A>C (n.*909A>C) c.1001A>C (p.Lys334Thr) | |
| 17 | g.74919526_74919531del | CA986277481 | USH1G | c.1305_1310del (p.Arg436_Lys437del) c.*904_*909del (n.*904_*909del) c.996_1001del (p.Arg333_Lys334del) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919527T>A | CA400961217 | USH1G | c.1309A>T (p.Lys437Ter) c.*908A>T (n.*908A>T) c.1000A>T (p.Lys334Ter) | |
| 17 | g.74919527T>C | CA400961219 | USH1G | c.1309A>G (p.Lys437Glu) c.*908A>G (n.*908A>G) c.1000A>G (p.Lys334Glu) | dbSNP |
| 17 | g.74919527T>G | CA400961216 | USH1G | c.1309A>C (p.Lys437Gln) c.*908A>C (n.*908A>C) c.1000A>C (p.Lys334Gln) | |
| 17 | g.74919527T= | CA2275255130 | USH1G | c.1309A= (p.Lys437=) c.*908A= (n.*908A=) c.1000A= (p.Lys334=) | |
| 17 | g.74919528T>A | CA502036380 | USH1G | c.1308A>T (p.Arg436=) c.*907A>T (n.*907A>T) c.999A>T (p.Arg333=) | |
| 17 | g.74919528T>C | CA502036379 | USH1G | c.1308A>G (p.Arg436=) c.*907A>G (n.*907A>G) c.999A>G (p.Arg333=) | gnomAD v4 |
| 17 | g.74919528T>G | CA502036378 | USH1G | c.1308A>C (p.Arg436=) c.*907A>C (n.*907A>C) c.999A>C (p.Arg333=) | |
| 17 | g.74919529C>A | CA400961222 | USH1G | c.1307G>T (p.Arg436Leu) c.*906G>T (n.*906G>T) c.998G>T (p.Arg333Leu) | |
| 17 | g.74919529C= | CA2275255131 | USH1G | c.1307G= (p.Arg436=) c.*906G= (n.*906G=) c.998G= (p.Arg333=) | |
| 17 | g.74919529C>G | CA400961223 | USH1G | c.1307G>C (p.Arg436Pro) c.*906G>C (n.*906G>C) c.998G>C (p.Arg333Pro) | |
| 17 | g.74919529C>T | CA8753890 | USH1G | c.1307G>A (p.Arg436Gln) c.*906G>A (n.*906G>A) c.998G>A (p.Arg333Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.74919530G>A | CA400961227 | USH1G | c.1306C>T (p.Arg436Ter) c.*905C>T (n.*905C>T) c.997C>T (p.Arg333Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.74919530G>C | CA8753891 | USH1G | c.1306C>G (p.Arg436Gly) c.*905C>G (n.*905C>G) c.997C>G (p.Arg333Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919530G= | CA2275255132 | USH1G | c.1306C= (p.Arg436=) c.*905C= (n.*905C=) c.997C= (p.Arg333=) | |
| 17 | g.74919530G>T | CA502036381 | USH1G | c.1306C>A (p.Arg436=) c.*905C>A (n.*905C>A) c.997C>A (p.Arg333=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.74919531G>A | CA502036382 | USH1G | c.1305C>T (p.Pro435=) c.*904C>T (n.*904C>T) c.996C>T (p.Pro332=) | |
| 17 | g.74919531G>C | CA502036383 | USH1G | c.1305C>G (p.Pro435=) c.*904C>G (n.*904C>G) c.996C>G (p.Pro332=) | |
| 17 | g.74919531G>T | CA502036384 | USH1G | c.1305C>A (p.Pro435=) c.*904C>A (n.*904C>A) c.996C>A (p.Pro332=) | |
| 17 | g.74919532G>A | CA400961230 | USH1G | c.1304C>T (p.Pro435Leu) c.*903C>T (n.*903C>T) c.995C>T (p.Pro332Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919532G>C | CA400961232 | USH1G | c.1304C>G (p.Pro435Arg) c.*903C>G (n.*903C>G) c.995C>G (p.Pro332Arg) | |
| 17 | g.74919532G= | CA2275255133 | USH1G | c.1304C= (p.Pro435=) c.*903C= (n.*903C=) c.995C= (p.Pro332=) | |
| 17 | g.74919532G>T | CA400961234 | USH1G | c.1304C>A (p.Pro435His) c.*903C>A (n.*903C>A) c.995C>A (p.Pro332His) | gnomAD v4 |
| 17 | g.74919533G>A | CA400961235 | USH1G | c.1303C>T (p.Pro435Ser) c.*902C>T (n.*902C>T) c.994C>T (p.Pro332Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919533G>C | CA400961236 | USH1G | c.1303C>G (p.Pro435Ala) c.*902C>G (n.*902C>G) c.994C>G (p.Pro332Ala) | |
| 17 | g.74919533G= | CA2275255134 | USH1G | c.1303C= (p.Pro435=) c.*902C= (n.*902C=) c.994C= (p.Pro332=) | |
| 17 | g.74919533G>T | CA400961238 | USH1G | c.1303C>A (p.Pro435Thr) c.*902C>A (n.*902C>A) c.994C>A (p.Pro332Thr) | gnomAD v4 |
| 17 | g.74919534C>A | CA502036385 | USH1G | c.1302G>T (p.Gly434=) c.*901G>T (n.*901G>T) c.993G>T (p.Gly331=) | |
| 17 | g.74919534C>G | CA502036386 | USH1G | c.1302G>C (p.Gly434=) c.*901G>C (n.*901G>C) c.993G>C (p.Gly331=) | |
| 17 | g.74919534C>T | CA502036387 | USH1G | c.1302G>A (p.Gly434=) c.*901G>A (n.*901G>A) c.993G>A (p.Gly331=) | |
| 17 | g.74919537del | CA2639746991 | USH1G | c.1302del (p.Arg436GlufsTer8) c.*901del (n.*901del) c.993del (p.Arg333GlufsTer8) | gnomAD v4 |
| 17 | g.74919535C>A | CA400961243 | USH1G | c.1301G>T (p.Gly434Val) c.*900G>T (n.*900G>T) c.992G>T (p.Gly331Val) | |
| 17 | g.74919535C= | CA2275255135 | USH1G | c.1301G= (p.Gly434=) c.*900G= (n.*900G=) c.992G= (p.Gly331=) | |
| 17 | g.74919535C>G | CA400961241 | USH1G | c.1301G>C (p.Gly434Ala) c.*900G>C (n.*900G>C) c.992G>C (p.Gly331Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919535C>T | CA400961240 | USH1G | c.1301G>A (p.Gly434Glu) c.*900G>A (n.*900G>A) c.992G>A (p.Gly331Glu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.74919536C>A | CA400961246 | USH1G | c.1300G>T (p.Gly434Trp) c.*899G>T (n.*899G>T) c.991G>T (p.Gly331Trp) | dbSNP |
| 17 | g.74919536C>G | CA400961247 | USH1G | c.1300G>C (p.Gly434Arg) c.*899G>C (n.*899G>C) c.991G>C (p.Gly331Arg) | |
| 17 | g.74919536C>T | CA400961250 | USH1G | c.1300G>A (p.Gly434Arg) c.*899G>A (n.*899G>A) c.991G>A (p.Gly331Arg) | |
| 17 | g.74919537C>A | CA502036388 | USH1G | c.1299G>T (p.Leu433=) c.*898G>T (n.*898G>T) c.990G>T (p.Leu330=) | |
| 17 | g.74919537C>G | CA502036389 | USH1G | c.1299G>C (p.Leu433=) c.*898G>C (n.*898G>C) c.990G>C (p.Leu330=) | |
| 17 | g.74919537C>T | CA502036390 | USH1G | c.1299G>A (p.Leu433=) c.*898G>A (n.*898G>A) c.990G>A (p.Leu330=) | |
| 17 | g.74919538A>C | CA400961252 | USH1G | c.1298T>G (p.Leu433Arg) c.*897T>G (n.*897T>G) c.989T>G (p.Leu330Arg) | |
| 17 | g.74919538A>G | CA400961254 | USH1G | c.1298T>C (p.Leu433Pro) c.*897T>C (n.*897T>C) c.989T>C (p.Leu330Pro) | gnomAD v4 |
| 17 | g.74919538A>T | CA400961256 | USH1G | c.1298T>A (p.Leu433Gln) c.*897T>A (n.*897T>A) c.989T>A (p.Leu330Gln) | |
| 17 | g.74919538_74919539dup | CA2810423864 | USH1G | c.1297_1298dup (p.Gly434TrpfsTer11) c.*896_*897dup (n.*896_*897dup) c.988_989dup (p.Gly331TrpfsTer11) | |
| 17 | g.74919539del | CA2739268362 | USH1G | c.1297del (p.Leu433TrpfsTer11) c.*896del (n.*896del) c.988del (p.Leu330TrpfsTer11) | ClinVar |
| 17 | g.74919539G>A | CA8753892 | USH1G | c.1297C>T (p.Leu433=) c.*896C>T (n.*896C>T) c.988C>T (p.Leu330=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919539G>C | CA400961259 | USH1G | c.1297C>G (p.Leu433Val) c.*896C>G (n.*896C>G) c.988C>G (p.Leu330Val) | |
| 17 | g.74919539G= | CA2275255136 | USH1G | c.1297C= (p.Leu433=) c.*896C= (n.*896C=) c.988C= (p.Leu330=) | |
| 17 | g.74919539G>T | CA400961260 | USH1G | c.1297C>A (p.Leu433Met) c.*896C>A (n.*896C>A) c.988C>A (p.Leu330Met) | ClinVar dbSNP |
| 17 | g.74919540T>A | CA502036391 | USH1G | c.1296A>T (p.Pro432=) c.*895A>T (n.*895A>T) c.987A>T (p.Pro329=) | |
| 17 | g.74919540T>C | CA502036392 | USH1G | c.1296A>G (p.Pro432=) c.*895A>G (n.*895A>G) c.987A>G (p.Pro329=) | |
| 17 | g.74919540T>G | CA502036393 | USH1G | c.1296A>C (p.Pro432=) c.*895A>C (n.*895A>C) c.987A>C (p.Pro329=) | gnomAD v4 |
| 17 | g.74919541G>A | CA400961262 | USH1G | c.1295C>T (p.Pro432Leu) c.*894C>T (n.*894C>T) c.986C>T (p.Pro329Leu) | |
| 17 | g.74919541G>C | CA400961264 | USH1G | c.1295C>G (p.Pro432Arg) c.*894C>G (n.*894C>G) c.986C>G (p.Pro329Arg) | |
| 17 | g.74919541G>T | CA400961266 | USH1G | c.1295C>A (p.Pro432Gln) c.*894C>A (n.*894C>A) c.986C>A (p.Pro329Gln) | |
| 17 | g.74919541_74919550dup | CA2695226989 | USH1G | c.1286_1295dup (p.Leu433GlnfsTer?) c.*885_*894dup (n.*885_*894dup) c.977_986dup (p.Leu330GlnfsTer?) | |
| 17 | g.74919542G>A | CA400961272 | USH1G | c.1294C>T (p.Pro432Ser) c.*893C>T (n.*893C>T) c.985C>T (p.Pro329Ser) | dbSNP |
| 17 | g.74919542G>C | CA400961270 | USH1G | c.1294C>G (p.Pro432Ala) c.*893C>G (n.*893C>G) c.985C>G (p.Pro329Ala) | |
| 17 | g.74919542G= | CA2275255137 | USH1G | c.1294C= (p.Pro432=) c.*893C= (n.*893C=) c.985C= (p.Pro329=) | |
| 17 | g.74919542G>T | CA400961268 | USH1G | c.1294C>A (p.Pro432Thr) c.*893C>A (n.*893C>A) c.985C>A (p.Pro329Thr) | |
| 17 | g.74919543G>A | CA502036394 | USH1G | c.1293C>T (p.Val431=) c.*892C>T (n.*892C>T) c.984C>T (p.Val328=) | |
| 17 | g.74919543G>C | CA502036395 | USH1G | c.1293C>G (p.Val431=) c.*892C>G (n.*892C>G) c.984C>G (p.Val328=) | |
| 17 | g.74919543G>T | CA502036396 | USH1G | c.1293C>A (p.Val431=) c.*892C>A (n.*892C>A) c.984C>A (p.Val328=) | |
| 17 | g.74919544A>C | CA400961273 | USH1G | c.1292T>G (p.Val431Gly) c.*891T>G (n.*891T>G) c.983T>G (p.Val328Gly) | |
| 17 | g.74919544A>G | CA400961275 | USH1G | c.1292T>C (p.Val431Ala) c.*891T>C (n.*891T>C) c.983T>C (p.Val328Ala) | |
| 17 | g.74919544A>T | CA400961274 | USH1G | c.1292T>A (p.Val431Asp) c.*891T>A (n.*891T>A) c.983T>A (p.Val328Asp) | |
| 17 | g.74919545C>A | CA400961276 | USH1G | c.1291G>T (p.Val431Phe) c.*890G>T (n.*890G>T) c.982G>T (p.Val328Phe) | COSMIC |
| 17 | g.74919545C= | CA2275255138 | USH1G | c.1291G= (p.Val431=) c.*890G= (n.*890G=) c.982G= (p.Val328=) | |
| 17 | g.74919545C>G | CA400961277 | USH1G | c.1291G>C (p.Val431Leu) c.*890G>C (n.*890G>C) c.982G>C (p.Val328Leu) | |
| 17 | g.74919545C>T | CA8753893 | USH1G | c.1291G>A (p.Val431Ile) c.*890G>A (n.*890G>A) c.982G>A (p.Val328Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919546G>A | CA502036400 | USH1G | c.1290C>T (p.Ser430=) c.*889C>T (n.*889C>T) c.981C>T (p.Ser327=) | dbSNP COSMIC |
| 17 | g.74919546G>C | CA400961278 | USH1G | c.1290C>G (p.Ser430Arg) c.*889C>G (n.*889C>G) c.981C>G (p.Ser327Arg) | |
| 17 | g.74919546G>T | CA400961279 | USH1G | c.1290C>A (p.Ser430Arg) c.*889C>A (n.*889C>A) c.981C>A (p.Ser327Arg) | |
| 17 | g.74919547C>A | CA400961280 | USH1G | c.1289G>T (p.Ser430Ile) c.*888G>T (n.*888G>T) c.980G>T (p.Ser327Ile) | gnomAD v4 |
| 17 | g.74919547C= | CA2275255139 | USH1G | c.1289G= (p.Ser430=) c.*888G= (n.*888G=) c.980G= (p.Ser327=) | |
| 17 | g.74919547C>G | CA400961281 | USH1G | c.1289G>C (p.Ser430Thr) c.*888G>C (n.*888G>C) c.980G>C (p.Ser327Thr) | |
| 17 | g.74919547C>T | CA400961282 | USH1G | c.1289G>A (p.Ser430Asn) c.*888G>A (n.*888G>A) c.980G>A (p.Ser327Asn) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.74919548T>A | CA400961283 | USH1G | c.1288A>T (p.Ser430Cys) c.*887A>T (n.*887A>T) c.979A>T (p.Ser327Cys) | |
| 17 | g.74919548T>C | CA400961285 | USH1G | c.1288A>G (p.Ser430Gly) c.*887A>G (n.*887A>G) c.979A>G (p.Ser327Gly) | |
| 17 | g.74919548T>G | CA400961284 | USH1G | c.1288A>C (p.Ser430Arg) c.*887A>C (n.*887A>C) c.979A>C (p.Ser327Arg) | |
| 17 | g.74919549G>A | CA502036406 | USH1G | c.1287C>T (p.Ile429=) c.*886C>T (n.*886C>T) c.978C>T (p.Ile326=) | |
| 17 | g.74919549G>C | CA400961286 | USH1G | c.1287C>G (p.Ile429Met) c.*886C>G (n.*886C>G) c.978C>G (p.Ile326Met) | |
| 17 | g.74919549G>T | CA502036405 | USH1G | c.1287C>A (p.Ile429=) c.*886C>A (n.*886C>A) c.978C>A (p.Ile326=) | |
| 17 | g.74919550A= | CA2275255140 | USH1G | c.1286T= (p.Ile429=) c.*885T= (n.*885T=) c.977T= (p.Ile326=) | |
| 17 | g.74919550A>C | CA8753894 | USH1G | c.1286T>G (p.Ile429Ser) c.*885T>G (n.*885T>G) c.977T>G (p.Ile326Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919550A>G | CA400961287 | USH1G | c.1286T>C (p.Ile429Thr) c.*885T>C (n.*885T>C) c.977T>C (p.Ile326Thr) | |
| 17 | g.74919550A>T | CA400961288 | USH1G | c.1286T>A (p.Ile429Asn) c.*885T>A (n.*885T>A) c.977T>A (p.Ile326Asn) | |
| 17 | g.74919551T>A | CA400961289 | USH1G | c.1285A>T (p.Ile429Phe) c.*884A>T (n.*884A>T) c.976A>T (p.Ile326Phe) | |
| 17 | g.74919551T>C | CA8753895 | USH1G | c.1285A>G (p.Ile429Val) c.*884A>G (n.*884A>G) c.976A>G (p.Ile326Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919551T>G | CA400961290 | USH1G | c.1285A>C (p.Ile429Leu) c.*884A>C (n.*884A>C) c.976A>C (p.Ile326Leu) | |
| 17 | g.74919551T= | CA2275255141 | USH1G | c.1285A= (p.Ile429=) c.*884A= (n.*884A=) c.976A= (p.Ile326=) | |
| 17 | g.74919552G>A | CA502036407 | USH1G | c.1284C>T (p.Ser428=) c.*883C>T (n.*883C>T) c.975C>T (p.Ser325=) | |
| 17 | g.74919552G>C | CA400961291 | USH1G | c.1284C>G (p.Ser428Arg) c.*883C>G (n.*883C>G) c.975C>G (p.Ser325Arg) | |
| 17 | g.74919552G= | CA2275255142 | USH1G | c.1284C= (p.Ser428=) c.*883C= (n.*883C=) c.975C= (p.Ser325=) | |
| 17 | g.74919552G>T | CA400961292 | USH1G | c.1284C>A (p.Ser428Arg) c.*883C>A (n.*883C>A) c.975C>A (p.Ser325Arg) | dbSNP |
| 17 | g.74919553C>A | CA400961293 | USH1G | c.1283G>T (p.Ser428Ile) c.*882G>T (n.*882G>T) c.974G>T (p.Ser325Ile) | |
| 17 | g.74919553C>G | CA400961294 | USH1G | c.1283G>C (p.Ser428Thr) c.*882G>C (n.*882G>C) c.974G>C (p.Ser325Thr) | |
| 17 | g.74919553C>T | CA400961295 | USH1G | c.1283G>A (p.Ser428Asn) c.*882G>A (n.*882G>A) c.974G>A (p.Ser325Asn) | gnomAD v4 COSMIC |
| 17 | g.74919554T>A | CA400961296 | USH1G | c.1282A>T (p.Ser428Cys) c.*881A>T (n.*881A>T) c.973A>T (p.Ser325Cys) | |
| 17 | g.74919554T>C | CA400961297 | USH1G | c.1282A>G (p.Ser428Gly) c.*881A>G (n.*881A>G) c.973A>G (p.Ser325Gly) | |
| 17 | g.74919554T>G | CA400961298 | USH1G | c.1282A>C (p.Ser428Arg) c.*881A>C (n.*881A>C) c.973A>C (p.Ser325Arg) | |
| 17 | g.74919555G>A | CA293983453 | USH1G | c.1281C>T (p.Arg427=) c.*880C>T (n.*880C>T) c.972C>T (p.Arg324=) | dbSNP |
| 17 | g.74919555G>C | CA502036411 | USH1G | c.1281C>G (p.Arg427=) c.*880C>G (n.*880C>G) c.972C>G (p.Arg324=) | |
| 17 | g.74919555G= | CA2275255143 | USH1G | c.1281C= (p.Arg427=) c.*880C= (n.*880C=) c.972C= (p.Arg324=) | |
| 17 | g.74919555G>T | CA502036409 | USH1G | c.1281C>A (p.Arg427=) c.*880C>A (n.*880C>A) c.972C>A (p.Arg324=) | |
| 17 | g.74919556C>A | CA400961299 | USH1G | c.1280G>T (p.Arg427Leu) c.*879G>T (n.*879G>T) c.971G>T (p.Arg324Leu) | gnomAD v4 |
| 17 | g.74919556C>G | CA400961300 | USH1G | c.1280G>C (p.Arg427Pro) c.*879G>C (n.*879G>C) c.971G>C (p.Arg324Pro) | |
| 17 | g.74919556C>T | CA400961301 | USH1G | c.1280G>A (p.Arg427His) c.*879G>A (n.*879G>A) c.971G>A (p.Arg324His) | ClinVar gnomAD v4 COSMIC |
| 17 | g.74919557G>A | CA8753896 | USH1G | c.1279C>T (p.Arg427Cys) c.*878C>T (n.*878C>T) c.970C>T (p.Arg324Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919557G>C | CA8753897 | USH1G | c.1279C>G (p.Arg427Gly) c.*878C>G (n.*878C>G) c.970C>G (p.Arg324Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919557G= | CA2275255144 | USH1G | c.1279C= (p.Arg427=) c.*878C= (n.*878C=) c.970C= (p.Arg324=) | |
| 17 | g.74919557G>T | CA400961302 | USH1G | c.1279C>A (p.Arg427Ser) c.*878C>A (n.*878C>A) c.970C>A (p.Arg324Ser) | |
| 17 | g.74919558G>A | CA502036412 | USH1G | c.1278C>T (p.Leu426=) c.*877C>T (n.*877C>T) c.969C>T (p.Leu323=) | |
| 17 | g.74919558G>C | CA502036413 | USH1G | c.1278C>G (p.Leu426=) c.*877C>G (n.*877C>G) c.969C>G (p.Leu323=) | |
| 17 | g.74919558G= | CA2275255145 | USH1G | c.1278C= (p.Leu426=) c.*877C= (n.*877C=) c.969C= (p.Leu323=) | |
| 17 | g.74919558G>T | CA502036415 | USH1G | c.1278C>A (p.Leu426=) c.*877C>A (n.*877C>A) c.969C>A (p.Leu323=) | dbSNP |
| 17 | g.74919559A>C | CA400961303 | USH1G | c.1277T>G (p.Leu426Arg) c.*876T>G (n.*876T>G) c.968T>G (p.Leu323Arg) | |
| 17 | g.74919559A>G | CA400961304 | USH1G | c.1277T>C (p.Leu426Pro) c.*876T>C (n.*876T>C) c.968T>C (p.Leu323Pro) | |
| 17 | g.74919559A>T | CA400961305 | USH1G | c.1277T>A (p.Leu426His) c.*876T>A (n.*876T>A) c.968T>A (p.Leu323His) | |
| 17 | g.74919560G>A | CA400961306 | USH1G | c.1276C>T (p.Leu426Phe) c.*875C>T (n.*875C>T) c.967C>T (p.Leu323Phe) | dbSNP |
| 17 | g.74919560G>C | CA400961307 | USH1G | c.1276C>G (p.Leu426Val) c.*875C>G (n.*875C>G) c.967C>G (p.Leu323Val) | |
| 17 | g.74919560G= | CA2275255146 | USH1G | c.1276C= (p.Leu426=) c.*875C= (n.*875C=) c.967C= (p.Leu323=) | |
| 17 | g.74919560G>T | CA400961308 | USH1G | c.1276C>A (p.Leu426Ile) c.*875C>A (n.*875C>A) c.967C>A (p.Leu323Ile) | |
| 17 | g.74919561G>A | CA502036420 | USH1G | c.1275C>T (p.Asp425=) c.*874C>T (n.*874C>T) c.966C>T (p.Asp322=) | dbSNP gnomAD v4 |
| 17 | g.74919561G>C | CA400961309 | USH1G | c.1275C>G (p.Asp425Glu) c.*874C>G (n.*874C>G) c.966C>G (p.Asp322Glu) | |
| 17 | g.74919561G= | CA2275255147 | USH1G | c.1275C= (p.Asp425=) c.*874C= (n.*874C=) c.966C= (p.Asp322=) | |
| 17 | g.74919561G>T | CA400961310 | USH1G | c.1275C>A (p.Asp425Glu) c.*874C>A (n.*874C>A) c.966C>A (p.Asp322Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919562T>A | CA400961311 | USH1G | c.1274A>T (p.Asp425Val) c.*873A>T (n.*873A>T) c.965A>T (p.Asp322Val) | |
| 17 | g.74919562T>C | CA400961312 | USH1G | c.1274A>G (p.Asp425Gly) c.*873A>G (n.*873A>G) c.965A>G (p.Asp322Gly) | |
| 17 | g.74919562T>G | CA400961313 | USH1G | c.1274A>C (p.Asp425Ala) c.*873A>C (n.*873A>C) c.965A>C (p.Asp322Ala) | dbSNP gnomAD v2 |
| 17 | g.74919562T= | CA2275255148 | USH1G | c.1274A= (p.Asp425=) c.*873A= (n.*873A=) c.965A= (p.Asp322=) | |
| 17 | g.74919570_74919596del | CA2639747027 | USH1G | c.1248_1274del (p.Glu416_Leu424del) c.*847_*873del (n.*847_*873del) c.939_965del (p.Glu313_Leu321del) | gnomAD v4 |
| 17 | g.74919563C>A | CA8753898 | USH1G | c.1273G>T (p.Asp425Tyr) c.*872G>T (n.*872G>T) c.964G>T (p.Asp322Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919563C= | CA2275255149 | USH1G | c.1273G= (p.Asp425=) c.*872G= (n.*872G=) c.964G= (p.Asp322=) | |
| 17 | g.74919563C>G | CA400961315 | USH1G | c.1273G>C (p.Asp425His) c.*872G>C (n.*872G>C) c.964G>C (p.Asp322His) | dbSNP |
| 17 | g.74919563C>T | CA400961314 | USH1G | c.1273G>A (p.Asp425Asn) c.*872G>A (n.*872G>A) c.964G>A (p.Asp322Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.74919564G>A | CA8753899 | USH1G | c.1272C>T (p.Leu424=) c.*871C>T (n.*871C>T) c.963C>T (p.Leu321=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919564G>C | CA502036426 | USH1G | c.1272C>G (p.Leu424=) c.*871C>G (n.*871C>G) c.963C>G (p.Leu321=) | |
| 17 | g.74919564G= | CA2275255150 | USH1G | c.1272C= (p.Leu424=) c.*871C= (n.*871C=) c.963C= (p.Leu321=) | |
| 17 | g.74919564G>T | CA502036427 | USH1G | c.1272C>A (p.Leu424=) c.*871C>A (n.*871C>A) c.963C>A (p.Leu321=) | |
| 17 | g.74919565A= | CA2275255151 | USH1G | c.1271T= (p.Leu424=) c.*870T= (n.*870T=) c.962T= (p.Leu321=) | |
| 17 | g.74919565A>C | CA400961316 | USH1G | c.1271T>G (p.Leu424Arg) c.*870T>G (n.*870T>G) c.962T>G (p.Leu321Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.74919565A>G | CA400961317 | USH1G | c.1271T>C (p.Leu424Pro) c.*870T>C (n.*870T>C) c.962T>C (p.Leu321Pro) | |
| 17 | g.74919565A>T | CA400961318 | USH1G | c.1271T>A (p.Leu424His) c.*870T>A (n.*870T>A) c.962T>A (p.Leu321His) | |
| 17 | g.74919566G>A | CA400961319 | USH1G | c.1270C>T (p.Leu424Phe) c.*869C>T (n.*869C>T) c.961C>T (p.Leu321Phe) | |
| 17 | g.74919566G>C | CA293983465 | USH1G | c.1270C>G (p.Leu424Val) c.*869C>G (n.*869C>G) c.961C>G (p.Leu321Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919566G= | CA2275255152 | USH1G | c.1270C= (p.Leu424=) c.*869C= (n.*869C=) c.961C= (p.Leu321=) | |
| 17 | g.74919566G>T | CA400961320 | USH1G | c.1270C>A (p.Leu424Ile) c.*869C>A (n.*869C>A) c.961C>A (p.Leu321Ile) | |
| 17 | g.74919567G>A | CA502036434 | USH1G | c.1269C>T (p.Asp423=) c.*868C>T (n.*868C>T) c.960C>T (p.Asp320=) | |
| 17 | g.74919567G>C | CA400961321 | USH1G | c.1269C>G (p.Asp423Glu) c.*868C>G (n.*868C>G) c.960C>G (p.Asp320Glu) | |
| 17 | g.74919567G>T | CA400961322 | USH1G | c.1269C>A (p.Asp423Glu) c.*868C>A (n.*868C>A) c.960C>A (p.Asp320Glu) | |
| 17 | g.74919568T>A | CA400961323 | USH1G | c.1268A>T (p.Asp423Val) c.*867A>T (n.*867A>T) c.959A>T (p.Asp320Val) | |
| 17 | g.74919568T>C | CA400961324 | USH1G | c.1268A>G (p.Asp423Gly) c.*867A>G (n.*867A>G) c.959A>G (p.Asp320Gly) | COSMIC |
| 17 | g.74919568T>G | CA400961325 | USH1G | c.1268A>C (p.Asp423Ala) c.*867A>C (n.*867A>C) c.959A>C (p.Asp320Ala) | |
| 17 | g.74919569C>A | CA400961328 | USH1G | c.1267G>T (p.Asp423Tyr) c.*866G>T (n.*866G>T) c.958G>T (p.Asp320Tyr) | |
| 17 | g.74919569C= | CA2275255153 | USH1G | c.1267G= (p.Asp423=) c.*866G= (n.*866G=) c.958G= (p.Asp320=) | |
| 17 | g.74919569C>G | CA400961327 | USH1G | c.1267G>C (p.Asp423His) c.*866G>C (n.*866G>C) c.958G>C (p.Asp320His) | |
| 17 | g.74919569C>T | CA400961326 | USH1G | c.1267G>A (p.Asp423Asn) c.*866G>A (n.*866G>A) c.958G>A (p.Asp320Asn) | dbSNP |
| 17 | g.74919570A>C | CA502036440 | USH1G | c.1266T>G (p.Ser422=) c.*865T>G (n.*865T>G) c.957T>G (p.Ser319=) | |
| 17 | g.74919570A>G | CA502036439 | USH1G | c.1266T>C (p.Ser422=) c.*865T>C (n.*865T>C) c.957T>C (p.Ser319=) | |
| 17 | g.74919570A>T | CA502036438 | USH1G | c.1266T>A (p.Ser422=) c.*865T>A (n.*865T>A) c.957T>A (p.Ser319=) | |
| 17 | g.74919571G>A | CA400961329 | USH1G | c.1265C>T (p.Ser422Phe) c.*864C>T (n.*864C>T) c.956C>T (p.Ser319Phe) | |
| 17 | g.74919571G>C | CA400961330 | USH1G | c.1265C>G (p.Ser422Cys) c.*864C>G (n.*864C>G) c.956C>G (p.Ser319Cys) | |
| 17 | g.74919571G>T | CA400961331 | USH1G | c.1265C>A (p.Ser422Tyr) c.*864C>A (n.*864C>A) c.956C>A (p.Ser319Tyr) | |
| 17 | g.74919572A= | CA2275255154 | USH1G | c.1264T= (p.Ser422=) c.*863T= (n.*863T=) c.955T= (p.Ser319=) | |
| 17 | g.74919572A>C | CA400961332 | USH1G | c.1264T>G (p.Ser422Ala) c.*863T>G (n.*863T>G) c.955T>G (p.Ser319Ala) | dbSNP |
| 17 | g.74919572A>G | CA400961333 | USH1G | c.1264T>C (p.Ser422Pro) c.*863T>C (n.*863T>C) c.955T>C (p.Ser319Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.74919572A>T | CA400961334 | USH1G | c.1264T>A (p.Ser422Thr) c.*863T>A (n.*863T>A) c.955T>A (p.Ser319Thr) | |
| 17 | g.74919573G>A | CA502036445 | USH1G | c.1263C>T (p.Cys421=) c.*862C>T (n.*862C>T) c.954C>T (p.Cys318=) | dbSNP gnomAD v2 |
| 17 | g.74919573G>C | CA400961336 | USH1G | c.1263C>G (p.Cys421Trp) c.*862C>G (n.*862C>G) c.954C>G (p.Cys318Trp) | |
| 17 | g.74919573G= | CA2275255155 | USH1G | c.1263C= (p.Cys421=) c.*862C= (n.*862C=) c.954C= (p.Cys318=) | |
| 17 | g.74919573G>T | CA400961335 | USH1G | c.1263C>A (p.Cys421Ter) c.*862C>A (n.*862C>A) c.954C>A (p.Cys318Ter) | |
| 17 | g.74919574C>A | CA400961337 | USH1G | c.1262G>T (p.Cys421Phe) c.*861G>T (n.*861G>T) c.953G>T (p.Cys318Phe) | |
| 17 | g.74919574C>G | CA400961338 | USH1G | c.1262G>C (p.Cys421Ser) c.*861G>C (n.*861G>C) c.953G>C (p.Cys318Ser) | |
| 17 | g.74919574C>T | CA400961339 | USH1G | c.1262G>A (p.Cys421Tyr) c.*861G>A (n.*861G>A) c.953G>A (p.Cys318Tyr) | |
| 17 | g.74919575A>C | CA400961340 | USH1G | c.1261T>G (p.Cys421Gly) c.*860T>G (n.*860T>G) c.952T>G (p.Cys318Gly) | |
| 17 | g.74919575A>G | CA400961341 | USH1G | c.1261T>C (p.Cys421Arg) c.*860T>C (n.*860T>C) c.952T>C (p.Cys318Arg) | |
| 17 | g.74919575A>T | CA400961342 | USH1G | c.1261T>A (p.Cys421Ser) c.*860T>A (n.*860T>A) c.952T>A (p.Cys318Ser) | |
| 17 | g.74919576C>A | CA502036455 | USH1G | c.1260G>T (p.Leu420=) c.*859G>T (n.*859G>T) c.951G>T (p.Leu317=) | |
| 17 | g.74919576C>G | CA502036450 | USH1G | c.1260G>C (p.Leu420=) c.*859G>C (n.*859G>C) c.951G>C (p.Leu317=) | |
| 17 | g.74919576C>T | CA502036454 | USH1G | c.1260G>A (p.Leu420=) c.*859G>A (n.*859G>A) c.951G>A (p.Leu317=) | gnomAD v4 |