Table 1 WES analysis of identified the TTN gene variant in the proband
From: Heterozygous missense variant in the TTN gene causing Tibial muscular dystrophy
Locus | Gene | Exon | Protein | Coding | Mutation Taster | SIFT | PROVEAN | FATHMM-XF |
|---|---|---|---|---|---|---|---|---|
chr2:179484592 | TTN | 200 | p.Arg13843Ser | c.41529G > C | D | D | D | D |