Table 5.
Family-specific common and rare variants in Family C
| Common variant | Functional prediction program | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gene | #RS | Chr | POS | Amino acid change | Type | SIFT | Polyphen2 | PhyloP | PhastCons | Global | East Asian | Korean |
| UVSSA | 2276904 | chr4 | 1,349,029 | R391H | cSNP | . | . | . | . | 0.23 | 0.42 | 0.374 |
| HGFAC | 3748034 | chr4 | 3,446,091 | A218S | cSNP | 0.38 | 0.659 | 2 | 1 | 0.15 | 0.28 | 0.305 |
| UNC93A | 2235197 | chr6 | 167,709,702 | W151 | STOP GAINED | . | . | 4.525 | 1 | 0.1 | 0.15 | 0.163 |
| ABCA13 | 17712299 | chr7 | 48,313,881 | F1540L | cSNP | . | 0.997 | 2.325 | 0.85 | 0.11 | 0.17 | 0.255 |
| SSPO | 1005603 | chr7 | 149,516,881 | S4028I | cSNP | . | . | . | 1 | 0.2 | 0.19 | 0.181 |
| TTC40 | . | chr10 | 134,679,632 | T1596M | cSNP | . | . | . | . | . | . | |
| Rare variant | ||||||||||||
| COL6A6 | 200963433 | chr3 | 130,289,976 | R906C | cSNP | 0 | 1 | 4.596 | 1 | 0.0014 | 0.01 | 0.017 |
| CDX1 | 370852694 | chr5 | 149,546,819 | A127E | cSNP | 0.87 | 0.458 | 1.235 | 0.996 | . | . | 0.027 |