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.
9 loci
| View | ATN1 | DRPLA | Dentatorubral-Pallidoluysian Atrophy | chr12:6936716-6936775 | AD | ||
| View | CSTB | EPM1 | Progressive Myoclonic Epilepsy Type 1 (EPM1) Unverricht-Lundborg Disease (ULD) | chr21:43776442-43776479 | AR | ||
| View | MARCHF6 | FAME3 | Familial adult myoclonic epilepsy type 3 | chr5:10356343-10356411 | AD | ||
| View | RAI1 | FAME8 | Familial adult myoclonic epilepsy type 8 | chr17:17808358-17808460 | AD | ||
| View | RAPGEF2 | FAME7 | Familial adult myoclonic epilepsy type 7 | chr4:159342526-159342618 | AD | ||
| View | SAMD12 | FAME1 | Familial adult myoclonic epilepsy type 1 | chr8:118366812-118366918 | AD | ||
| View | STARD7 | FAME2 | Familial adult myoclonic epilepsy 2 | chr2:96197066-96197124 | 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 |
9 rows
Plots
High-level, visual overview of loci.