PHRF1
| 12341.p1 | chr11: 610966-610966 | C | G | exonic | | De novo, Mosaic | nonsynonymous SNV | NM_001286581 NM_001286582 NM_001286583 NM_020901 | c.C4690G c.C4684G c.C4678G c.C4687G | p.L1564V p.L1562V p.L1560V p.L1563V | 16.18 | - | Dou2017
E
Ji2016
E
Krumm2015
E
Krupp2017
E
| |