Table 1.
The Summary of 15 de novo mutations in 25 VKH trios families
| GeneName | Chr | Pos | Ref | Alt | AAChange | gerp + +gt2 |
|---|---|---|---|---|---|---|
| AXDND1 | 1 | 179497570 | T | G | c.2715+4 T > G | 0 |
| ADAMTS3 | 4 | 73186589 | T | C | c.946-2 A > G | 6.07 |
| TAS2R5 | 7 | 141490904 | C | A | c.C743A:p.P248H | 3.37 |
| CA9 | 9 | 35675792 | C | A | c.C468A:p.C156X | 2.24 |
| SIK3 | 11 | 116728777 | G | A | c.C3080T:p.P1027L | 3.64 |
| PTPN11 | 12 | 112924295 | C | T | c.C1253T:p.T418M | 4.26 |
| ARHGAP5 | 14 | 32561439 | C | G | c.C1564G:p.L522V | 0 |
| RYR3 | 15 | 33893642 | T | C | c.T1811C:p.L604P | 4.68 |
| RPAP1 | 15 | 41823223 | G | A | c.C941T:p.P314L | 5.36 |
| HAS3 | 16 | 69143434 | G | A | c.G136A:p.G46S | 5.6 |
| MPP2 | 17 | 41958658 | C | A | c.G945T:p.K315N | 0 |
| KCTD1 | 18 | 24056619 | C | T | c.G169A:p.G57R | 5.63 |
| ZNF236 | 18 | 74607146 | A | G | c.A1595G:p.K532R | 5.48 |
| DNMT3L | 21 | 45670810 | G | A | c.C792T:p.H264H | 2.87 |
| PLXNA3 | X | 153695441 | C | T | c.C3149T:p.T1050M | 5.8 |
Chr Chromosome, Ref Reference, Alt Alternative, AAChange Amino Acid Change, gerp genomic evolutionary rate profiling