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.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 |
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=) |