Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |
17 | g.74919802C>A | CA400962001 | USH1G | c.1034G>T (p.Arg345Leu) c.*633G>T (n.*633G>T) c.725G>T (p.Arg242Leu) | gnomAD v4 |
17 | g.74919802C>G | CA400962002 | USH1G | c.1034G>C (p.Arg345Pro) c.*633G>C (n.*633G>C) c.725G>C (p.Arg242Pro) | |
17 | g.74919802C>T | CA400962004 | USH1G | c.1034G>A (p.Arg345Gln) c.*633G>A (n.*633G>A) c.725G>A (p.Arg242Gln) | gnomAD v4 |
17 | g.74919803G>A | CA8753945 | USH1G | c.1033C>T (p.Arg345Trp) c.*632C>T (n.*632C>T) c.724C>T (p.Arg242Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919803G>C | CA400962007 | USH1G | c.1033C>G (p.Arg345Gly) c.*632C>G (n.*632C>G) c.724C>G (p.Arg242Gly) | |
17 | g.74919803G= | CA2275255270 | USH1G | c.1033C= (p.Arg345=) c.*632C= (n.*632C=) c.724C= (p.Arg242=) | |
17 | g.74919803G>T | CA502036466 | USH1G | c.1033C>A (p.Arg345=) c.*632C>A (n.*632C>A) c.724C>A (p.Arg242=) | |
17 | g.74919804A>C | CA502036469 | USH1G | c.1032T>G (p.Gly344=) c.*631T>G (n.*631T>G) c.723T>G (p.Gly241=) | |
17 | g.74919804A>G | CA502036470 | USH1G | c.1032T>C (p.Gly344=) c.*631T>C (n.*631T>C) c.723T>C (p.Gly241=) | gnomAD v4 |
17 | g.74919804A>T | CA502036471 | USH1G | c.1032T>A (p.Gly344=) c.*631T>A (n.*631T>A) c.723T>A (p.Gly241=) | |
17 | g.74919805C>A | CA400962011 | USH1G | c.1031G>T (p.Gly344Val) c.*630G>T (n.*630G>T) c.722G>T (p.Gly241Val) | gnomAD v4 |
17 | g.74919805C= | CA2275255271 | USH1G | c.1031G= (p.Gly344=) c.*630G= (n.*630G=) c.722G= (p.Gly241=) | |
17 | g.74919805C>G | CA400962012 | USH1G | c.1031G>C (p.Gly344Ala) c.*630G>C (n.*630G>C) c.722G>C (p.Gly241Ala) | |
17 | g.74919805C>T | CA400962013 | USH1G | c.1031G>A (p.Gly344Asp) c.*630G>A (n.*630G>A) c.722G>A (p.Gly241Asp) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.74919806C>A | CA400962014 | USH1G | c.1030G>T (p.Gly344Cys) c.*629G>T (n.*629G>T) c.721G>T (p.Gly241Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919806C= | CA2275255272 | USH1G | c.1030G= (p.Gly344=) c.*629G= (n.*629G=) c.721G= (p.Gly241=) | |
17 | g.74919806C>G | CA400962015 | USH1G | c.1030G>C (p.Gly344Arg) c.*629G>C (n.*629G>C) c.721G>C (p.Gly241Arg) | gnomAD v4 |
17 | g.74919806C>T | CA400962016 | USH1G | c.1030G>A (p.Gly344Ser) c.*629G>A (n.*629G>A) c.721G>A (p.Gly241Ser) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.74919807C>A | CA502036474 | USH1G | c.1029G>T (p.Arg343=) c.*628G>T (n.*628G>T) c.720G>T (p.Arg240=) | |
17 | g.74919807C>G | CA502036475 | USH1G | c.1029G>C (p.Arg343=) c.*628G>C (n.*628G>C) c.720G>C (p.Arg240=) | |
17 | g.74919807C>T | CA502036477 | USH1G | c.1029G>A (p.Arg343=) c.*628G>A (n.*628G>A) c.720G>A (p.Arg240=) | |
17 | g.74919808_74919810del | CA2639747219 | USH1G | c.1027_1029del (p.Arg343del) c.*626_*628del (n.*626_*628del) c.718_720del (p.Arg240del) | gnomAD v4 |
17 | g.74919808C>A | CA400962017 | USH1G | c.1028G>T (p.Arg343Leu) c.*627G>T (n.*627G>T) c.719G>T (p.Arg240Leu) | |
17 | g.74919808C>G | CA400962018 | USH1G | c.1028G>C (p.Arg343Pro) c.*627G>C (n.*627G>C) c.719G>C (p.Arg240Pro) | |
17 | g.74919808C>T | CA400962019 | USH1G | c.1028G>A (p.Arg343Gln) c.*627G>A (n.*627G>A) c.719G>A (p.Arg240Gln) | |
17 | g.74919809G>A | CA400962020 | USH1G | c.1027C>T (p.Arg343Trp) c.*626C>T (n.*626C>T) c.718C>T (p.Arg240Trp) | gnomAD v4 COSMIC |
17 | g.74919809G>C | CA400962021 | USH1G | c.1027C>G (p.Arg343Gly) c.*626C>G (n.*626C>G) c.718C>G (p.Arg240Gly) | |
17 | g.74919809G>T | CA502036481 | USH1G | c.1027C>A (p.Arg343=) c.*626C>A (n.*626C>A) c.718C>A (p.Arg240=) | |
17 | g.74919810C>A | CA502036482 | USH1G | c.1026G>T (p.Pro342=) c.*625G>T (n.*625G>T) c.717G>T (p.Pro239=) | |
17 | g.74919810C= | CA2275255273 | USH1G | c.1026G= (p.Pro342=) c.*625G= (n.*625G=) c.717G= (p.Pro239=) | |
17 | g.74919810C>G | CA502036483 | USH1G | c.1026G>C (p.Pro342=) c.*625G>C (n.*625G>C) c.717G>C (p.Pro239=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.74919810C>T | CA502036484 | USH1G | c.1026G>A (p.Pro342=) c.*625G>A (n.*625G>A) c.717G>A (p.Pro239=) | COSMIC |
17 | g.74919811G>A | CA400962022 | USH1G | c.1025C>T (p.Pro342Leu) c.*624C>T (n.*624C>T) c.716C>T (p.Pro239Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.74919811G>C | CA8753946 | USH1G | c.1025C>G (p.Pro342Arg) c.*624C>G (n.*624C>G) c.716C>G (p.Pro239Arg) | dbSNP ExAC gnomAD v2 |
17 | g.74919811G= | CA2275255274 | USH1G | c.1025C= (p.Pro342=) c.*624C= (n.*624C=) c.716C= (p.Pro239=) | |
17 | g.74919811G>T | CA400962023 | USH1G | c.1025C>A (p.Pro342Gln) c.*624C>A (n.*624C>A) c.716C>A (p.Pro239Gln) |