Loci

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Full Dataset

TRGT definitions for genotyping in PacBio HiFi reads:
hg19 hg38 T2T-chm13

Extended BED format for filtering genomic data:
hg19 hg38 T2T-chm13

Full table of tandem repeat loci associated with Mendelian diseases.

NewConflictingSparse

Motif max

Inheritance

8 loci


View	ARX	EIEE1	Early-infantile epileptic encephalopathy	chrX:25013649-25013697	NGC	XR
View	ARX	PRTS	Partington syndrome	chrX:25013529-25013565	NGC	XR
View	C9orf72	FTDALS1	Frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS)	chr9:27573484-27573546	GGCCCC	AD
View	COMP	EDM1, PSACH	Multiple epiphyseal dysplasia, Pseudoachondroplasia	chr19:18786034-18786050	GTC	AD
View	FMR1	FXS, FXTAS, POF1	Fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency FXPOI/POF1	chrX:147912049-147912111	CGG	XD
View	NOTCH2NLC	NIID	Neuronal intranuclear inclusion disease, Alzheimer disease and parkinsonism phenotype	chr1:149390802-149390842	GGC	AD
View	RFC1	CANVAS	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome	chr4:39348424-39348483	AAGGG, ACAGG, AGGGC, AAGGC, AGAGG	AR
View	ZIC3	VACTERLX	X-linked VACTERL syndrome	chrX:137566826-137566856	GCN	XR