Table 1 Information of c.−35C > G variant with data derived from UTRannotator, also included is the c.−22del variant.

From: Novel start codon variant in the 5’UTR of LDLR associated with familial hypercholesterolaemia

Chrom:Pos

Ref

Alt

DNA change

Variant type

Consequence

Distance to CDS

Distance to next in-frame STOP

Kozak Context

GnomAD (v4) AF

19:11089514

C

G

c.−35C > G

5’ UTR, uAUG gain

Creation of oORF

37

186

GTGATGC

0.0000007

19:11089527

C

 

c.−22del

5’ UTR, uAUG gain

Creation of oORF

24

173

GACATGC

0

  1. Chrom Chromosome, Pos Position, Ref Reference allele, Alt Alternate allele, CDS Coding sequence, AF Allele frequency.
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