Table 5 A full-exon panel of AUTS2 was designed for capture sequencing in 220 sporadic concomitant exotropia samples to search for other possible variants. Table 5 shows that in 220 sporadic concomitant exotropia samples, 15 variants were captured (including 12 SNP variant sites and 3 Indels) in AUTS2
Sample | Mut_type | Chr | Ref | Alt | Vcf_mut | GT | Func.refGene | cytoband |
|---|---|---|---|---|---|---|---|---|
1 | SNP | chr7 | C | T | chr7:70256360:C/T | 0/1 | UTR3 | 7q11.22 |
2 | SNP | chr7 | A | T | chr7:69064357:A/T | 0/1 | UTR5 | 7q11.22 |
3 | SNP | chr7 | T | G | chr7:69756846:T/G | 0/1 | UTR3 | 7q11.22 |
4 | SNP | chr7 | C | T | chr7:70254740:C/T | 0/1 | exonic | 7q11.22 |
5 | SNP | chr7 | G | A | chr7:70256619:G/A | 0/1 | UTR3 | 7q11.22 |
6 | SNP | chr7 | T | C | chr7:70256133:T/C | 0/1 | UTR3 | 7q11.22 |
7 | SNP | chr7 | C | T | chr7:70258170:C/T | 0/1 | UTR3 | 7q11.22 |
8 | InDel | chr7 | GG | - | chr7:69063488:CGG/C | 0/1 | UTR5 | 7q11.22 |
9 | SNP | chr7 | A | G | chr7:70254874:A/G | 0/1 | exonic | 7q11.22 |
10 | SNP | chr7 | A | G | chr7:70254874:A/G | 0/1 | exonic | 7q11.22 |
11 | SNP | chr7 | A | G | chr7:70254874:A/G | 0/1 | exonic | 7q11.22 |
12 | InDel | chr7 | - | TATG | chr7:70256153:A/ATATG | 0/1 | UTR3 | 7q11.22 |
13 | InDel | chr7 | T | - | chr7:69064295:AT/A | 0/1 | UTR5 | 7q11.22 |
14 | SNP | chr7 | G | A | chr7:70257803:G/A | 0/1 | UTR3 | 7q11.22 |
15 | SNP | chr7 | A | G | chr7:69757852:A/G | 0/1 | UTR3 | 7q11.22 |