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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