Population allele frequencies for iMS in expanded microsatellite disease loci.

aChromosomal locations for iMS examined are as follows: AIB1: Chr. 20, 46279815-899; DRPLA: Chr. 12, 7045879-936; SCA1: Chr. 6, 16327866-954; SCA2: Chr. 12, 112036754-823; SCA17, Chr.6: 170870995-1103; HOXD13: Chr. 2, 176957786-825; FOXL2, Chr. 3, 138664861-903. The following loci were examined, but no differences from the reference genome were observed in any of the four populations: SCA3; CBFA1; ZIC2; OPMD; HOXA13; ARX; FMR1; FMR2.
bUnderline indicates the position of the interruption within the hg19 reference sequence. Bold font indicates the variant sequence (relative to the reference sequence) identified within the four populations examined.
cThis allele corresponds to the non-diseased sequence reported in reference [60].
dThere is another microsatellite present at this locus [(CGC)(GGC)(TGC)(AGC)(CGC)(AGC)(TGC)2(AGC)(CGC)(TGC)(GGC)(TGC)(CGC)]; however it showed no differences from the reference genome in any of the four populations.