Table 2 SNVs Identified by Exome Sequencing and Validated by PCR Products Sequencing
Variant coordinates | SNP ID | Gene | Variation | Nucleotide changes | MAF * (%) |
|---|---|---|---|---|---|
chr7:123599641 | rs199703625 | SPAM1 | non-synonymous SNV | A-- > G | 0.100 |
chr11:1769211 | --- | IFITM10 | non-synonymous SNV | C-- > T | --- |
chr7:81601108 | rs78086631 | CACNA2D1 | non-synonymous SNV | G-- > A | 0.270 |
chr7:87082273 | rs58238559 | ABCB4 | non-synonymous SNV | A-- > G | 0.652 |
chr15:76225153 | --- | FBXO22 | non-synonymous SNV | C-- > A | --- |
chr11:117257921 | --- | CEP164 | non-synonymous SNV | G-- > T | --- |
chr2:27522165 | rs146448995 | TRIM54 | stop–gain mutation | G-- > T | 0.022 |