Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.153816507_153816508delinsTC | CA2480601999 | GATAD2B | c.558_559delinsGA (p.Gly186=) c.981_982delinsGA (p.Gly327=) c.933_934delinsGA (p.Gly311=) c.235_236delinsGA | |
1 | g.153816508C>A | CA420946186 | GATAD2B | c.558G>T (p.Gly186=) c.981G>T (p.Gly327=) c.933G>T (p.Gly311=) c.235G>T | |
1 | g.153816508C= | CA1144011901 | GATAD2B | c.558G= (p.Gly186=) c.981G= (p.Gly327=) c.933G= (p.Gly311=) c.235G= | |
1 | g.153816508C>G | CA420946187 | GATAD2B | c.558G>C (p.Gly186=) c.981G>C (p.Gly327=) c.933G>C (p.Gly311=) c.235G>C | ClinVar dbSNP |
1 | g.153816508C>T | CA1120719 | GATAD2B | c.558G>A (p.Gly186=) c.981G>A (p.Gly327=) c.933G>A (p.Gly311=) c.235G>A | dbSNP ExAC gnomAD v2 |
1 | g.153816510del | CA209223 | GATAD2B | c.558del (p.Thr187ArgfsTer2) c.981del (p.Thr328ArgfsTer2) c.933del (p.Thr312ArgfsTer2) c.235del | ClinVar dbSNP |
1 | g.153816509_153816510del | CA2573051372 | GATAD2B | c.557_558del (p.Gly186AspfsTer11) c.980_981del (p.Gly327AspfsTer11) c.932_933del (p.Gly311AspfsTer11) c.234_235del | ClinVar dbSNP |
1 | g.153816509C>A | CA342528005 | GATAD2B | c.557G>T (p.Gly186Val) c.980G>T (p.Gly327Val) c.932G>T (p.Gly311Val) c.234G>T | |
1 | g.153816509C= | CA2480602000 | GATAD2B | c.557G= (p.Gly186=) c.980G= (p.Gly327=) c.932G= (p.Gly311=) c.234G= | |
1 | g.153816509C>G | CA342527992 | GATAD2B | c.557G>C (p.Gly186Ala) c.980G>C (p.Gly327Ala) c.932G>C (p.Gly311Ala) c.234G>C | |
1 | g.153816509C>T | CA1120720 | GATAD2B | c.557G>A (p.Gly186Glu) c.980G>A (p.Gly327Glu) c.932G>A (p.Gly311Glu) c.234G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.153816510C>A | CA342528009 | GATAD2B | c.556G>T (p.Gly186Trp) c.979G>T (p.Gly327Trp) c.931G>T (p.Gly311Trp) c.233G>T | |
1 | g.153816510C>G | CA342528012 | GATAD2B | c.556G>C (p.Gly186Arg) c.979G>C (p.Gly327Arg) c.931G>C (p.Gly311Arg) c.233G>C | |
1 | g.153816510C>T | CA342528016 | GATAD2B | c.556G>A (p.Gly186Arg) c.979G>A (p.Gly327Arg) c.931G>A (p.Gly311Arg) c.233G>A | |
1 | g.153816511T>A | CA420946188 | GATAD2B | c.555A>T (p.Pro185=) c.978A>T (p.Pro326=) c.930A>T (p.Pro310=) c.232A>T | |
1 | g.153816511T>C | CA420946189 | GATAD2B | c.555A>G (p.Pro185=) c.978A>G (p.Pro326=) c.930A>G (p.Pro310=) c.232A>G | ClinVar |
1 | g.153816511T>G | CA420946190 | GATAD2B | c.555A>C (p.Pro185=) c.978A>C (p.Pro326=) c.930A>C (p.Pro310=) c.232A>C | |
1 | g.153816512G>A | CA342528019 | GATAD2B | c.554C>T (p.Pro185Leu) c.977C>T (p.Pro326Leu) c.929C>T (p.Pro310Leu) c.231C>T | |
1 | g.153816512G>C | CA342528023 | GATAD2B | c.554C>G (p.Pro185Arg) c.977C>G (p.Pro326Arg) c.929C>G (p.Pro310Arg) c.231C>G | |
1 | g.153816512G>T | CA342528025 | GATAD2B | c.554C>A (p.Pro185Gln) c.977C>A (p.Pro326Gln) c.929C>A (p.Pro310Gln) c.231C>A | |
1 | g.153816513G>A | CA30707926 | GATAD2B | c.553C>T (p.Pro185Ser) c.976C>T (p.Pro326Ser) c.928C>T (p.Pro310Ser) c.230C>T | dbSNP gnomAD v4 |
1 | g.153816513G>C | CA342528027 | GATAD2B | c.553C>G (p.Pro185Ala) c.976C>G (p.Pro326Ala) c.928C>G (p.Pro310Ala) c.230C>G | |
1 | g.153816513G= | CA2480602001 | GATAD2B | c.553C= (p.Pro185=) c.976C= (p.Pro326=) c.928C= (p.Pro310=) c.230C= | |
1 | g.153816513G>T | CA342528029 | GATAD2B | c.553C>A (p.Pro185Thr) c.976C>A (p.Pro326Thr) c.928C>A (p.Pro310Thr) c.230C>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.153816514C>A | CA342528030 | GATAD2B | c.552G>T (p.Gln184His) c.975G>T (p.Gln325His) c.927G>T (p.Gln309His) c.229G>T | |
1 | g.153816514C>G | CA342528031 | GATAD2B | c.552G>C (p.Gln184His) c.975G>C (p.Gln325His) c.927G>C (p.Gln309His) c.229G>C | |
1 | g.153816514C>T | CA420946191 | GATAD2B | c.552G>A (p.Gln184=) c.975G>A (p.Gln325=) c.927G>A (p.Gln309=) c.229G>A | |
1 | g.153816515T>A | CA342528036 | GATAD2B | c.551A>T (p.Gln184Leu) c.974A>T (p.Gln325Leu) c.926A>T (p.Gln309Leu) c.228A>T | |
1 | g.153816515T>C | CA342528038 | GATAD2B | c.551A>G (p.Gln184Arg) c.974A>G (p.Gln325Arg) c.926A>G (p.Gln309Arg) c.228A>G | |
1 | g.153816515T>G | CA342528034 | GATAD2B | c.551A>C (p.Gln184Pro) c.974A>C (p.Gln325Pro) c.926A>C (p.Gln309Pro) c.228A>C | |
1 | g.153816516G>A | CA16616978 | GATAD2B | c.550C>T (p.Gln184Ter) c.973C>T (p.Gln325Ter) c.925C>T (p.Gln309Ter) c.227C>T | ClinVar dbSNP |
1 | g.153816516G>C | CA342528041 | GATAD2B | c.550C>G (p.Gln184Glu) c.973C>G (p.Gln325Glu) c.925C>G (p.Gln309Glu) c.227C>G | |
1 | g.153816516G= | CA2480602002 | GATAD2B | c.550C= (p.Gln184=) c.973C= (p.Gln325=) c.925C= (p.Gln309=) c.227C= | |
1 | g.153816516G>T | CA342528042 | GATAD2B | c.550C>A (p.Gln184Lys) c.973C>A (p.Gln325Lys) c.925C>A (p.Gln309Lys) c.227C>A | |
1 | g.153816517G>A | CA420946192 | GATAD2B | c.549C>T (p.Ile183=) c.972C>T (p.Ile324=) c.924C>T (p.Ile308=) c.226C>T | |
1 | g.153816517G>C | CA342528045 | GATAD2B | c.549C>G (p.Ile183Met) c.972C>G (p.Ile324Met) c.924C>G (p.Ile308Met) c.226C>G | |
1 | g.153816517G>T | CA420946193 | GATAD2B | c.549C>A (p.Ile183=) c.972C>A (p.Ile324=) c.924C>A (p.Ile308=) c.226C>A | |
1 | g.153816518A>C | CA342528047 | GATAD2B | c.548T>G (p.Ile183Ser) c.971T>G (p.Ile324Ser) c.923T>G (p.Ile308Ser) c.225T>G | |
1 | g.153816518A>G | CA342528049 | GATAD2B | c.548T>C (p.Ile183Thr) c.971T>C (p.Ile324Thr) c.923T>C (p.Ile308Thr) c.225T>C | ClinVar dbSNP |
1 | g.153816518A>T | CA342528051 | GATAD2B | c.548T>A (p.Ile183Asn) c.971T>A (p.Ile324Asn) c.923T>A (p.Ile308Asn) c.225T>A | |
1 | g.153816519T>A | CA342528054 | GATAD2B | c.547A>T (p.Ile183Phe) c.970A>T (p.Ile324Phe) c.922A>T (p.Ile308Phe) c.224A>T | |
1 | g.153816519T>C | CA342528056 | GATAD2B | c.547A>G (p.Ile183Val) c.970A>G (p.Ile324Val) c.922A>G (p.Ile308Val) c.224A>G | |
1 | g.153816519T>G | CA342528055 | GATAD2B | c.547A>C (p.Ile183Leu) c.970A>C (p.Ile324Leu) c.922A>C (p.Ile308Leu) c.224A>C | gnomAD v4 |
1 | g.153816520A>C | CA342528058 | GATAD2B | c.546T>G (p.His182Gln) c.969T>G (p.His323Gln) c.921T>G (p.His307Gln) c.223T>G | |
1 | g.153816520A>G | CA420946194 | GATAD2B | c.546T>C (p.His182=) c.969T>C (p.His323=) c.921T>C (p.His307=) c.223T>C | gnomAD v4 |
1 | g.153816520A>T | CA342528060 | GATAD2B | c.546T>A (p.His182Gln) c.969T>A (p.His323Gln) c.921T>A (p.His307Gln) c.223T>A | |
1 | g.153816521_153816525del | CA645532343 | GATAD2B | c.542_546del (p.Ser181TyrfsTer15) c.965_969del (p.Ser322TyrfsTer15) c.917_921del (p.Ser306TyrfsTer15) c.219_223del | COSMIC |
1 | g.153816521T>A | CA342528062 | GATAD2B | c.545A>T (p.His182Leu) c.968A>T (p.His323Leu) c.920A>T (p.His307Leu) c.222A>T | |
1 | g.153816521T>C | CA342528064 | GATAD2B | c.545A>G (p.His182Arg) c.968A>G (p.His323Arg) c.920A>G (p.His307Arg) c.222A>G | ClinVar dbSNP |
1 | g.153816521T>G | CA342528066 | GATAD2B | c.545A>C (p.His182Pro) c.968A>C (p.His323Pro) c.920A>C (p.His307Pro) c.222A>C |