Nine distinct mutations including one small deletion mutation ( 46delS ) , two small insertion mutations ( 118-119insA and 125-126insAA ) , and six non-synonymous mutations ( A6V , P163S , E359K , P407Q , S429T and A442V ) were identified in 12 of the 486 patients ( nine with ventricular septal defect , two with Tetralogy of Fallot , and one with endocardial cushion defect ) .
O O O O O O O O O B-SequenceVariant O O O O O O O B-SequenceVariant O B-SequenceVariant O O O O O O O B-SequenceVariant O B-SequenceVariant O B-SequenceVariant O B-SequenceVariant O B-SequenceVariant O B-SequenceVariant O O O O O O O O B-OrganismTaxon O O O B-DiseaseOrPhenotypicFeature I-DiseaseOrPhenotypicFeature I-DiseaseOrPhenotypicFeature O O O B-DiseaseOrPhenotypicFeature I-DiseaseOrPhenotypicFeature I-DiseaseOrPhenotypicFeature O O O O B-DiseaseOrPhenotypicFeature I-DiseaseOrPhenotypicFeature I-DiseaseOrPhenotypicFeature O O