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

15 loci


View	ATXN1	SCA1	Spinocerebellar Ataxia Type 1	chr6:16327633-16327724	CTG	AD
View	ATXN10	SCA10	Spinocerebellar Ataxia Type 10	chr22:45795354-45795424	ATTCT	AD
View	ATXN8OS	SCA8	Spinocerebellar Ataxia Type 8	chr13:70139383-70139429	CTG	AD
View	BEAN1	SCA31	Spinocerebellar Ataxia Type 31	chr16:66490396-66490466	TGGAA, TAGAA	AD
View	DAB1	SCA37	Spinocerebellar Ataxia Type 37	chr1:57367043-57367121	GAAAT	AD
View	FGF14	SCA27B	Spinocerebellar ataxia 27B	chr13:102161574-102161726	GAA	AD
View	FXN	FRDA	Friedreich ataxia	chr9:69037286-69037304	GAA	AR
View	HTT	HD	Huntington disease	chr4:3074876-3074933	CAG	AD
View	MARCHF6	FAME3	Familial adult myoclonic epilepsy type 3	chr5:10356343-10356411	TTTCA	AD
View	RAPGEF2	FAME7	Familial adult myoclonic epilepsy type 7	chr4:159342526-159342618	TTTCA	AD
View	RFC1	CANVAS	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome	chr4:39348424-39348483	AAGGG, ACAGG, AGGGC, AAGGC, AGAGG	AR
View	SAMD12	FAME1	Familial adult myoclonic epilepsy type 1	chr8:118366812-118366918	TGAAA	AD
View	STARD7	FAME2	Familial adult myoclonic epilepsy 2	chr2:96197066-96197124	AAATG	AD
View	TNRC6A	FAME6	Familial adult myoclonic epilepsy type 6	chr16:24613438-24613532	TTTCA	AD
View	YEATS2	FAME4	Familial adult myoclonic epilepsy 4	chr3:183712187-183712226	TTTCA	AD