Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.153816507_153816508delinsTCCA2480601999GATAD2Bc.558_559delinsGA (p.Gly186=)
c.981_982delinsGA (p.Gly327=)
c.933_934delinsGA (p.Gly311=)
c.235_236delinsGA
1g.153816508C>ACA420946186GATAD2Bc.558G>T (p.Gly186=)
c.981G>T (p.Gly327=)
c.933G>T (p.Gly311=)
c.235G>T
1g.153816508C=CA1144011901GATAD2Bc.558G= (p.Gly186=)
c.981G= (p.Gly327=)
c.933G= (p.Gly311=)
c.235G=
1g.153816508C>GCA420946187GATAD2Bc.558G>C (p.Gly186=)
c.981G>C (p.Gly327=)
c.933G>C (p.Gly311=)
c.235G>C
ClinVar dbSNP
1g.153816508C>TCA1120719GATAD2Bc.558G>A (p.Gly186=)
c.981G>A (p.Gly327=)
c.933G>A (p.Gly311=)
c.235G>A
dbSNP ExAC gnomAD v2
1g.153816510delCA209223GATAD2Bc.558del (p.Thr187ArgfsTer2)
c.981del (p.Thr328ArgfsTer2)
c.933del (p.Thr312ArgfsTer2)
c.235del
ClinVar dbSNP
1g.153816509_153816510delCA2573051372GATAD2Bc.557_558del (p.Gly186AspfsTer11)
c.980_981del (p.Gly327AspfsTer11)
c.932_933del (p.Gly311AspfsTer11)
c.234_235del
ClinVar dbSNP
1g.153816509C>ACA342528005GATAD2Bc.557G>T (p.Gly186Val)
c.980G>T (p.Gly327Val)
c.932G>T (p.Gly311Val)
c.234G>T
1g.153816509C=CA2480602000GATAD2Bc.557G= (p.Gly186=)
c.980G= (p.Gly327=)
c.932G= (p.Gly311=)
c.234G=
1g.153816509C>GCA342527992GATAD2Bc.557G>C (p.Gly186Ala)
c.980G>C (p.Gly327Ala)
c.932G>C (p.Gly311Ala)
c.234G>C
1g.153816509C>TCA1120720GATAD2Bc.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
1g.153816510C>ACA342528009GATAD2Bc.556G>T (p.Gly186Trp)
c.979G>T (p.Gly327Trp)
c.931G>T (p.Gly311Trp)
c.233G>T
1g.153816510C>GCA342528012GATAD2Bc.556G>C (p.Gly186Arg)
c.979G>C (p.Gly327Arg)
c.931G>C (p.Gly311Arg)
c.233G>C
1g.153816510C>TCA342528016GATAD2Bc.556G>A (p.Gly186Arg)
c.979G>A (p.Gly327Arg)
c.931G>A (p.Gly311Arg)
c.233G>A
1g.153816511T>ACA420946188GATAD2Bc.555A>T (p.Pro185=)
c.978A>T (p.Pro326=)
c.930A>T (p.Pro310=)
c.232A>T
1g.153816511T>CCA420946189GATAD2Bc.555A>G (p.Pro185=)
c.978A>G (p.Pro326=)
c.930A>G (p.Pro310=)
c.232A>G
ClinVar
1g.153816511T>GCA420946190GATAD2Bc.555A>C (p.Pro185=)
c.978A>C (p.Pro326=)
c.930A>C (p.Pro310=)
c.232A>C
1g.153816512G>ACA342528019GATAD2Bc.554C>T (p.Pro185Leu)
c.977C>T (p.Pro326Leu)
c.929C>T (p.Pro310Leu)
c.231C>T
1g.153816512G>CCA342528023GATAD2Bc.554C>G (p.Pro185Arg)
c.977C>G (p.Pro326Arg)
c.929C>G (p.Pro310Arg)
c.231C>G
1g.153816512G>TCA342528025GATAD2Bc.554C>A (p.Pro185Gln)
c.977C>A (p.Pro326Gln)
c.929C>A (p.Pro310Gln)
c.231C>A
1g.153816513G>ACA30707926GATAD2Bc.553C>T (p.Pro185Ser)
c.976C>T (p.Pro326Ser)
c.928C>T (p.Pro310Ser)
c.230C>T
dbSNP gnomAD v4
1g.153816513G>CCA342528027GATAD2Bc.553C>G (p.Pro185Ala)
c.976C>G (p.Pro326Ala)
c.928C>G (p.Pro310Ala)
c.230C>G
1g.153816513G=CA2480602001GATAD2Bc.553C= (p.Pro185=)
c.976C= (p.Pro326=)
c.928C= (p.Pro310=)
c.230C=
1g.153816513G>TCA342528029GATAD2Bc.553C>A (p.Pro185Thr)
c.976C>A (p.Pro326Thr)
c.928C>A (p.Pro310Thr)
c.230C>A
dbSNP gnomAD v2 gnomAD v4
1g.153816514C>ACA342528030GATAD2Bc.552G>T (p.Gln184His)
c.975G>T (p.Gln325His)
c.927G>T (p.Gln309His)
c.229G>T
1g.153816514C>GCA342528031GATAD2Bc.552G>C (p.Gln184His)
c.975G>C (p.Gln325His)
c.927G>C (p.Gln309His)
c.229G>C
1g.153816514C>TCA420946191GATAD2Bc.552G>A (p.Gln184=)
c.975G>A (p.Gln325=)
c.927G>A (p.Gln309=)
c.229G>A
1g.153816515T>ACA342528036GATAD2Bc.551A>T (p.Gln184Leu)
c.974A>T (p.Gln325Leu)
c.926A>T (p.Gln309Leu)
c.228A>T
1g.153816515T>CCA342528038GATAD2Bc.551A>G (p.Gln184Arg)
c.974A>G (p.Gln325Arg)
c.926A>G (p.Gln309Arg)
c.228A>G
1g.153816515T>GCA342528034GATAD2Bc.551A>C (p.Gln184Pro)
c.974A>C (p.Gln325Pro)
c.926A>C (p.Gln309Pro)
c.228A>C
1g.153816516G>ACA16616978GATAD2Bc.550C>T (p.Gln184Ter)
c.973C>T (p.Gln325Ter)
c.925C>T (p.Gln309Ter)
c.227C>T
ClinVar dbSNP
1g.153816516G>CCA342528041GATAD2Bc.550C>G (p.Gln184Glu)
c.973C>G (p.Gln325Glu)
c.925C>G (p.Gln309Glu)
c.227C>G
1g.153816516G=CA2480602002GATAD2Bc.550C= (p.Gln184=)
c.973C= (p.Gln325=)
c.925C= (p.Gln309=)
c.227C=
1g.153816516G>TCA342528042GATAD2Bc.550C>A (p.Gln184Lys)
c.973C>A (p.Gln325Lys)
c.925C>A (p.Gln309Lys)
c.227C>A
1g.153816517G>ACA420946192GATAD2Bc.549C>T (p.Ile183=)
c.972C>T (p.Ile324=)
c.924C>T (p.Ile308=)
c.226C>T
1g.153816517G>CCA342528045GATAD2Bc.549C>G (p.Ile183Met)
c.972C>G (p.Ile324Met)
c.924C>G (p.Ile308Met)
c.226C>G
1g.153816517G>TCA420946193GATAD2Bc.549C>A (p.Ile183=)
c.972C>A (p.Ile324=)
c.924C>A (p.Ile308=)
c.226C>A
1g.153816518A>CCA342528047GATAD2Bc.548T>G (p.Ile183Ser)
c.971T>G (p.Ile324Ser)
c.923T>G (p.Ile308Ser)
c.225T>G
1g.153816518A>GCA342528049GATAD2Bc.548T>C (p.Ile183Thr)
c.971T>C (p.Ile324Thr)
c.923T>C (p.Ile308Thr)
c.225T>C
ClinVar dbSNP
1g.153816518A>TCA342528051GATAD2Bc.548T>A (p.Ile183Asn)
c.971T>A (p.Ile324Asn)
c.923T>A (p.Ile308Asn)
c.225T>A
1g.153816519T>ACA342528054GATAD2Bc.547A>T (p.Ile183Phe)
c.970A>T (p.Ile324Phe)
c.922A>T (p.Ile308Phe)
c.224A>T
1g.153816519T>CCA342528056GATAD2Bc.547A>G (p.Ile183Val)
c.970A>G (p.Ile324Val)
c.922A>G (p.Ile308Val)
c.224A>G
1g.153816519T>GCA342528055GATAD2Bc.547A>C (p.Ile183Leu)
c.970A>C (p.Ile324Leu)
c.922A>C (p.Ile308Leu)
c.224A>C
gnomAD v4
1g.153816520A>CCA342528058GATAD2Bc.546T>G (p.His182Gln)
c.969T>G (p.His323Gln)
c.921T>G (p.His307Gln)
c.223T>G
1g.153816520A>GCA420946194GATAD2Bc.546T>C (p.His182=)
c.969T>C (p.His323=)
c.921T>C (p.His307=)
c.223T>C
gnomAD v4
1g.153816520A>TCA342528060GATAD2Bc.546T>A (p.His182Gln)
c.969T>A (p.His323Gln)
c.921T>A (p.His307Gln)
c.223T>A
1g.153816521_153816525delCA645532343GATAD2Bc.542_546del (p.Ser181TyrfsTer15)
c.965_969del (p.Ser322TyrfsTer15)
c.917_921del (p.Ser306TyrfsTer15)
c.219_223del
COSMIC
1g.153816521T>ACA342528062GATAD2Bc.545A>T (p.His182Leu)
c.968A>T (p.His323Leu)
c.920A>T (p.His307Leu)
c.222A>T
1g.153816521T>CCA342528064GATAD2Bc.545A>G (p.His182Arg)
c.968A>G (p.His323Arg)
c.920A>G (p.His307Arg)
c.222A>G
ClinVar dbSNP
1g.153816521T>GCA342528066GATAD2Bc.545A>C (p.His182Pro)
c.968A>C (p.His323Pro)
c.920A>C (p.His307Pro)
c.222A>C

Number of alleles fetched