... presenting lesions in these patients. To date, no coding sequence variants of KIT , PDGFRA , or the SDH genes have ...

... 6 kb in length with 2859 nucleotides of coding sequence. Benign variants. Two benign variants (and the "normal" variant) are ...

... A, Li D, Siegfried JD, Gonzalez-Quintana J. Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. Circ Cardiovasc Genet. ... J, Litt M. Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, ...

... Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north ...

... et al [1999] , two silent changes in the coding sequence were observed. Pathogenic variants. To date, more than 30 KCNA1 pathogenic variants ...

... 5. Yang et al [2015] 6. To detect coding and noncoding pathogenic variants, sequence analysis should include methods to detect deep intronic and splicing variants, in addition to coding and flanking intronic regions. ... variants that are benign, likely benign, of uncertain significance, ...

... the inclusion of introns and an altered protein-coding sequence. Also called splice-site variant. splice-site variant A genetic alteration in the ... the inclusion of introns and an altered protein-coding sequence. Also called ... an inherited genetic variant that would increase their risk for that cancer. ...

... 5,304 nucleotides, a single exon, and a coding sequence of 969 nucleotides. Pathogenic variants. To date, 61 different de novo PURA intragenic ...

... of COL1A1 and COL1A2 cDNA to detect pathogenic variants in the coding sequence and sequence analysis of COL1A1 and COL1A2 genomic DNA to detect pathogenic variants that alter either sequence or stability of mRNA ...

... AR inheritance appear to be scattered throughout the coding sequence and are mostly missense or nonsense variants ( Table 4 ). Pathogenic variants causing AD myotonia congenita ...