Loci
Downloads
Full DatasetTRGT definitions for genotyping in PacBio HiFi reads:
hg19 hg38 T2T-chm13
Extended BED format for filtering genomic data:
hg19 hg38 T2T-chm13
Table
Full table of tandem repeat loci associated with Mendelian diseases.
11 loci
| View | DMD | DMD | Duchenne muscular dystrophy | chrX:31284557-31284605 | XR | ||
| View | GLS | GDPAG | Glutaminase deficiency | chr2:190880872-190880920 | AR | ||
| View | HOXD13 | SD5 | Syndactyly | chr2:176093058-176093103 | AD | ||
| View | NUTM2B-AS1 | OPML1 | Oculopharyngeal myopathy with leukoencephalopathy 1 | chr10:79826383-79826404 | AD | ||
| View | PRDM12 | HSAN VIII | Hereditary sensory and autonomic neuropathy type VIII | chr9:130681605-130681641 | AR | ||
| View | SOX3 | XLMR | X-linked panhypopituitarism ; X-linked mental retardation with isolated growth hormone | chrX:140504316-140504361 | XR | ||
| View | TBX1 | TOF | Tetralogy of Fallot | chr22:19766762-19766807 | AD | ||
| View | TNRC6A | FAME6 | Familial adult myoclonic epilepsy type 6 | chr16:24613438-24613532 | AD | ||
| View | YEATS2 | FAME4 | Familial adult myoclonic epilepsy 4 | chr3:183712187-183712226 | AD | ||
| View | ZIC3 | VACTERLX | X-linked VACTERL syndrome | chrX:137566826-137566856 | XR | ||
| View | ZNF713 | FRA7A | Autism spectrum disorder associated with fragile site FRA7A | chr7:55887600-55887639 | AD |
11 rows
Plots
High-level, visual overview of loci.