Table 4 Frequencies of SNPs in exon 7 of the SORD gene in our samples.

From: Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients

Variant

Number of observed homozygotes

Number of observed heterozygotes

Number of alleles

% of alleles

NM_003104.6:c.777G>A

p.(Ala259Ala) Chr15(GRCh38):g.45069043G>A

1

13

15

7.08

NM_003104.6:c.716A>T

p.(Gln239Leu) Chr15(GRCh38):g.45068982A>T

10

17

37

17.45

NM_003104.6:c.757del

Chr15(GRCh38):g.45069023del

9

16

38

17.92

Total number of patients tested 106

Total number of alleles tested 212

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