Skip to main content

Table 1 Information of mutations detected in patient with amplicon sequencing

From: Characterization of a novel splicing mutation in UNC13D gene through amplicon sequencing: a case report on HLH

Gene-exon

Position

Type

Zygosity

Reference

Variant

Frequency of variant

Coverage

aID in dbSNP

Allele Frequency in gnomAD

PRF1-Exon3

c.900C > T

synonymous mutation

Heterozygous

G

A

50.3

500

rs885822

0.6403

UNC13D-exon15

c.1299-1G > A

Splicing

Heterozygous

C

T

49.3

800

novel

Unknown

UNC13D-intron28

c.2709 + 1G > A

Splicing

Heterozygous

C

T

47.8

1000

novel

Unknown

STX11-exon2

c.a 70G > A

non-coding region

Heterozygous

G

A

53.7

500

rs3734228

0.1166

  1. aAccession number of known variant in dbSNP (https://www.ncbi.nlm.nih.gov/projects/SNP/) was listed, others were marked as novel