Table 6 A full exon panel of GTDC2 was designed for capture sequencing in 220 sporadic concomitant exotropia samples to search for other possible variants. Table 6 shows that in 220 sporadic concomitant exotropia samples, 4 SNP variant site variants in GTDC2 were captured.
Sample | Mut_type | Chr | Ref | Alt | Vcf_mut | GT | Func.refGene | cytoBand |
|---|---|---|---|---|---|---|---|---|
1 | SNP | chr3 | G | A | chr3:43147568:G/A | 0/1 | UTR5 | 3p22.1 |
2 | SNP | chr3 | C | T | chr3:43122440:C/T | 0/1 | exonic | 3p22.1 |
3 | SNP | chr3 | C | T | chr3:43121729:C/T | 0/1 | exonic | 3p22.1 |
4 | SNP | chr3 | C | T | chr3:43147481:C/T | 0/1 | UTR5 | 3p22.1 |