... 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 ... D, Partain J, Litt M. Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, ...

... C have reduced levels of mRNA with intact coding sequence. Thus, the variant presumably interferes with splicing and/or further mRNA ...

... have a pathogenic variant detected in the PTEN coding sequence have heterozygous germline pathogenic variants in the PTEN promoter [ Zhou et al 2003b ]. ...

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

... 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 , ...

... variants (SNVs) have been found in the ABCC9 coding sequence, including: the NM_005691.2 missense variants c.3409G>A (p.Val1137Ile), c.2200G>A ( ... Gene . Benign variants. SNVs found in the KCNJ8 coding sequence include the ... allele frequency ) missense variant NM_004982.3 :c.1265C>T (p.Ser422Leu) ( ...

... C have reduced levels of mRNA with intact coding sequence [ Rossi et al 1996b ]. Thus, the variant presumably interferes with splicing and/or further mRNA ...

... and dominant) appear to be scattered throughout the coding sequence and are mostly missense or nonsense variants ( Table 2 ). Pathogenic variants causing dominant myotonia congenita ...