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Table 2 Clinical and baseline characteristics of novel KLF13 variants in CHDs patients

From: Identification and analysis of KLF13 variants in patients with congenital heart disease

Patient

Age

Cardiac Phenotype

Location in Gene

Function

Nucleotide Change

Amino acid Change

SIFT

Mutation taster

PolyPhen- V2

Allele Frequency

1

7 Months

D-TGA

Exon 1

Missense

c.467G > A

S156N

0.04

0.01652

0.818

0.003236

2

9 Months

TA VSD ASD

Exon 1

Missense

c.487C > T

P163S

0.57

0.93386

0.314

0.003236