Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability

Table 4 Polymorphic tandem repeats in family L061 that were also detected in a control sampling

Chr	Start	End	Origin	Unit length	Copies	Purity	Unit seq.	Annotation	L061 (=37SX) family				Control unaffected males
Chr	Start	End	Origin	Unit length	Copies	Purity	Unit seq.	Annotation	SN	LJ		Proband	CJ	VHB	LT	DVS	VA	RG	6	8	15	17	20	22	26	49	50	60	61	86
chrX	70,151,351	70,151,390	XLID73	2	20	100	GT	Upstream	218	227	231	231	231	229	229	229	231	231	227	229	229	221	227	225	223
chrX	74,743,332	74,743,375	XLID74	2	22	100	AC	Upstream	227	231	233	233	227	227	225	229	227	227	227	225	227	227	225	231	227	227	227	225	235	233
chrX	84,343,323	84,343,351	XLID76	1	29	100	T	NonCoding	356	361	368	368	361	356	362	360	356	362	362	356	362	356	362	356	356	375	356
chrX	84,499,126	84,499,197	XLID78	3	24	84.7	CGG	FivePrimeUTR	473	463	463	463							463
chrX	106,184,602	106,184,641	XLID80	2	20	100	GA	ThreePrimeUTR	302	300	310	310	298	290	304	294	298	298	304	304	310	304	310	312	302

Proband – affected family member, SN – unaffected male, LJ – carrier of the disease-related haplotype. Allele size is given in base pairs. Alleles found in the individual with ID are in bold: 231, 233, 368, 463 and 310 for the tandem repeats XLID73, XLID74, XLID76, XLID78 and XLID80 respectively

ISSN: 1755-8794