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 |