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

Table

Full table of tandem repeat loci associated with Mendelian diseases.

2 loci
View
CNBPDM2Myotonic dystrophy type 2chr3:129172576-129172656
CAGG
AD
View
DMPKDM1Myotonic dystrophy type 1chr19:45770204-45770266
CAG
AD
2 rows

Plots

High-level, visual overview of loci.

Pathogenic Size Range

110100100010kFAME4SCA10FAME3SCA36MRUPAVFAME6GDPAGCANVASFTDALS1FAME2FRA7ACPUMNMESCA27BFRA2AFRA12AFRAXEFXS, FXTAS, POF1SCA31FAME1OPML1EPM1OPDM4OPDM5JBSDM2FAME7RCPSOPDM1OPDM2DBQD2, BSSSCA8XDPNIIDSCA3, MJDFRDASCA37SCA12FECD3DM1SCA17DRPLASCA4SCAHDHDL2CJDSCA1SBMASCA7SCA2CCHSTOFHPE5HFG-IHFG-IIISD5XLMRSCA6PRTSCCDHFG-IIHSAN VIIIEIEE1BPESFAME8OPMDVACTERLXEDM1, PSACHCHNG3HMNR7
Allele sizeBenignIntermediatePathogenicAllele size in base pairsDisease

Age of Onset

020406080FECD3CJDSCA36FAME6MRUPAVSCA27BFTDALS1OPMDCANVASSCA37ADTKDFAME7SCA6OPML1OPDM2HDL2FAME1XDPSCA4SCA10OPDM5FAME3NIIDOPDM4FAME4SBMASCA31SCA12OPDM1FAME8SCA1EPM1FAME2SCASCA3, MJDEDM1, PSACHSCA17SCA2FRDAGDPAGFRA7AFRAXEFRA2AHDNMEEIEE1PRTSDRPLASCA7SCA8DM2FRA12ADM1FXS, FXTAS, POF1CCHSXLMRHMNR7
InheritanceADARXDXRAge of onset (years)Disease