Mutation, MissenseMutationExomePoint MutationPedigreePhenotypeDNA Mutational AnalysisQuantitative Trait LociGenotypeChromosome MappingPolymorphism, Single NucleotideFrameshift MutationSequence Analysis, DNAMolecular Sequence DataBase SequenceLinkage DisequilibriumGenome-Wide Association StudyModels, GeneticGerm-Line MutationGenetic Predisposition to DiseaseGenetic VariationHaplotypesMutation RateExonsHeterozygoteAmino Acid SubstitutionPolymerase Chain ReactionAllelesPolymorphism, Single-Stranded ConformationalMutagenesis, Site-DirectedAmino Acid SequenceCodon, NonsenseHomozygoteMutagenesisGenes, RecessiveSequence DeletionGenes, DominantGenetic TestingProtein Structure, TertiaryDNA PrimersEscherichia coliSuppression, GeneticModels, MolecularCodonCell LineBinding SitesSequence Homology, Amino AcidDNA-Binding ProteinsGenetic Complementation TestGene DeletionFounder EffectTranscription FactorsGenes, p53SyndromeCloning, MolecularProtein BindingSequence AlignmentDNAMutant ProteinsGenetic LinkageSaccharomyces cerevisiaeMembrane ProteinsConsanguinityBacterial ProteinsPlasmidsTransfectionGenes, LethalNuclear ProteinsHeterozygote DetectionPolymorphism, GeneticDNA, MitochondrialProto-Oncogene Proteins B-rafGenes, BRCA1Mutagenesis, InsertionalFamily HealthTranscription, GeneticCarrier ProteinsGene FrequencyPromoter Regions, GeneticDNA, NeoplasmIntronsGenes, BacterialProtein ConformationRNA, MessengerRecombination, GeneticMicrosatellite RepeatsStructure-Activity RelationshipDrug Resistance, ViralRecombinant ProteinsGenesJewsSignal TransductionAge of OnsetGenes, SuppressorKineticsCOS CellsEye ProteinsConserved SequenceMutagensINDEL Mutation