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Table 2 Genotype of Patients

From: Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants

NO. Region Nucleotide Change Amino Acid Change Type of Variants Familial Targeted Variants Study gnomAD/1000gene Score of S/PP/MT S/PP/MT References Classification
1 exon12 c.3082A > G p.Ile1028Val missense / 0/0 0/0.894/1 D/PD/D PMID 15300250 P
2 exon31 c.6165_6166del p.Tyr2056Profs*3 frameshift / 0/0 / / PMID 22461308 P
3 intron 25 c.5405-17G > A / intron De novo 0/0 / / PMID 16155193 P
4 exon8 c.2504_2508del p.Tyr835Serfs*14 frameshift / 0/0 / / PMID 16155193 P
5 intron 27 c.5607 + 1G > T / splice_donor / 0/0 / / / LP
6 exon34 c.7222G > T p.Glu2408* stop-gain De novo 0/0 0.19/NA/1 T/NA/D / P
7 intron 11 c.2957 + 5G > A / splice_donor / 0/0 / / PMID 22461308 P
8 exon3 c.1951_1952delinsT p.Lys651* stop-gain De novo 0/0 / / / P
9 exon37 c.8062dupA p.Ile2688Asnfs*3 frameshift / 0/0 / / / LP
10 exon30 c.6015_6018delAAAA p.Lys2005Asnfs*37 frameshift / 0/0 / / / LP
11 exon8 c.2572C > T p.Arg858* stop-gain De novo 0/0 0.1/N/1 T/N/D PMID 16155193 P
12 exon30 c.5971C > T p.Gln1991* stop-gain / 0/0 0.11/N/1 T/N/D / LP
  1. D deleterious, MT MutationTaster, N normal, NA none, LP likely pathogenic, P pathogenic, PD probably damaging, PMID PubMed ID number, PP Polyphen2, S SIFT, T tolerant