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Table 1 Number of analysed probands and frequencies of studied rearrangements in the Czech population

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

Rearrangement

Number of known families in CR

Number of analysed families

Frequency (%) a

promoter_exon2del

1

1

0.09

exon2_6dup

26

25

2.41

exon3_12del

1

1

0.09

exon4_8dup

2

2

0.19

exon5_10del

4

4

0.37

exon9_14del

28

28

2.59

exon9_15del

11

11

1.02

exon16_18dup

8

8

0.74

  1. CR – the Czech Republic,
  2. aFrequency of the rearrangement among other potentially causal LDLR variants (pathogenic or variants of unknown significance) found in the Czech population. Frequency was determined as the percentage of probands carrying the specific rearrangement out of all probands with a pathogenic or VUS LDLR variant recorded in the Czech MedPed database as of 4th March 2022
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Lipids in Health and Disease

ISSN: 1476-511X