TABLE 2.
Predisposing gene analysis of whole‐exome sequencing
| Chr | Start | Ref | Alt | Gene | Amino acid Change | 1000g2015 | snp142 | SIFT | Polyphen2 | OMIM disease |
|---|---|---|---|---|---|---|---|---|---|---|
| chr3 | 38592170 | C | T | SCN5A | NM_001160160:exon28:c.G5594A:p.R1865H | ‐ | rs370694515 | 0.055(T) | 1 (D) | Ion channelopathy; cardiomyopathy |
| chr6 | 129618854 | G | A | LAMA2 | NM_001098623:exon3:c.A1177G:p.N393D | <0.001 | rs147301872 | 0.005(D) | 0.109 (B) | Muscular dystrophy |
| chr7 | 150648538 | CCA | ‐ | KCNH2 | NM_001204798:exon3:c.921_923del:p.307_308del | ‐ | ‐ | ‐ | ‐ | Short QT syndrome; long QT syndrome |
| chrX | 31854929 | T | A | DMD | NM_004011:exon21:c.A3083T:p.E1028V | ‐ | ‐ | 0.054(T) | 0.999 (D) | Cardiomyopathy; muscular dystrophy |
Chr, chromosome; 1000G, 1000 genomes (2015 version); SNP, single nucleotide polymorphism; B, benign; D, damaging; T, tolerated; –, no report; OMIM, Online Mendelian Inheritance in Man.