LDLR gene rearrangements in Czech FH patients likely arise from one mutational event

Table 4 List of variants found in close proximity of the breakpoint

Rearrangement	Variant ^a	Frequency (gnomAD) ^b	Distance from the breakpoint (bps) ^c	Length of sequenced region (bps)
exon2_6dup	c.940+793_940 + 795dup	0.5962	100	401
exon4_8dup	none found	-	-	256
exon5_10del	c.694+285A>C	0.4519	609	759
exon5_10del	c.694+341G>A	0.5075	553	759
exon9_14del	c.1186+684A>C	NR^d	11	277
exon9_15del	c.2312-759_2312-754del	0.04835	20	446
exon9_15del	c.1187-269_1187-266TG[4]	NR^d	64	446
exon16_18dup	c.*1216dup	0.7005	1	579

These variants were identical in all families with each breakpoint. Only those rearrangements that were found in more than one family are listed. In both families with duplication of exons 4–8, no variants were found in the sequenced region of 256 bp
^aDescription of variants is based on the reference sequence NG_009060.1(NM_000527.4)
^bPopulation frequency of the variant in the European non-Finnish population according to the gnomAD database v4.0.0
^cDistance of the variant from one end of the microhomology region surrounding the breakpoint
^dNR – not reported in gnomAD v4.0.0 – signifies a unique variant associated with a specific rearrangement

ISSN: 1476-511X