| Genename | Variants |
|---|---|
| PHRF1(NM_020901,PHD and ring finger domains 1,1648aa) | g.11:607356G>A,c.1897G>A,p.G633S |
| PHRF1(NM_020901,PHD and ring finger domains 1,1648aa) | g.11:607155G>A,c.1696G>A,p.G566R |
| PHRF1(NM_020901,PHD and ring finger domains 1,1648aa) | g.11:598485G>A,c.1007G>A,p.R336Q |
| PHRF1(NM_020901,PHD and ring finger domains 1,1648aa) | g.11:598481G>T,c.1003G>T,p.A335S |
| PHRF1(NM_020901,PHD and ring finger domains 1,1648aa) | g.11:598472C>T,c.994C>T,p.R332C |
| PHRF1(NM_020901,PHD and ring finger domains 1,1648aa) | g.11:597451A>G,c.775A>G,p.T259A |
| PHRF1(NM_020901,PHD and ring finger domains 1,1648aa) | g.11:592578A>G,c.524A>G,p.K175R |
| PHRF1(NM_020901,PHD and ring finger domains 1,1648aa) | g.11:587385C>T,c.341C>T,p.A114V |
| PHRF1(NM_020901,PHD and ring finger domains 1,1648aa) | g.11:587372A>G,c.328A>G,p.I110V |
| PHRF1(NM_020901,PHD and ring finger domains 1,1648aa) | g.11:587352A>G,c.308A>G,p.D103G |
| PHRF1(NM_020901,PHD and ring finger domains 1,1648aa) | g.11:581994G>A,c.127G>A,p.G43R |
| PHPT1(NM_001135861,phosphohistidine phosphatase 1,124aa) | g.9:139745237A>G,c.371A>G,p.N124S |
| PHPT1(NM_001135861,phosphohistidine phosphatase 1,124aa) | g.9:139745228G>A,c.362G>A,p.R121H |
| PHPT1(NM_001135861,phosphohistidine phosphatase 1,124aa) | g.9:139743999G>C,c.117G>C,p.E39D |
| PHPT1(NM_001135861,phosphohistidine phosphatase 1,124aa) | g.9:139743890T>C,c.8T>C,p.V3A |
| PHOX2B(NM_003924,paired-like homeobox 2b,314aa) | g.4:41747993_41748013del,c.756_776del,p.252_259del |
| PHOX2A(NM_005169,paired-like homeobox 2a,284aa) | g.11:71951160_71951168del,c.480_488del,p.160_163del |
| PHOSPHO2(NM_001199286,phosphatase, orphan 2,241aa) | g.2:170558040G>C,c.559G>C,p.V187L |
| PHOSPHO2(NM_001199286,phosphatase, orphan 2,241aa) | g.2:170557656G>C,c.175G>C,p.G59R |
| PHOSPHO1(NM_001143804,phosphatase, orphan 1,292aa) | g.17:47302390_47302392del,c.95_97del,p.32_33del |
| PHOSPHO1(NM_001143804,phosphatase, orphan 1,292aa) | g.17:47302377G>T,c.110C>A,p.P37H |
| PHOSPHO1(NM_001143804,phosphatase, orphan 1,292aa) | g.17:47302377G>C,c.110C>G,p.P37R |
| PHOSPHO1(NM_001143804,phosphatase, orphan 1,292aa) | g.17:47302171C>T,c.316G>A,p.E106K |
| PHLPP2(NM_015020,PH domain and leucine rich repeat protein phosphatase 2,1323aa) | g.16:71748677T>G,c.22A>C,p.N8H |
| PHLPP2(NM_015020,PH domain and leucine rich repeat protein phosphatase 2,1323aa) | g.16:71724461T>G,c.570A>C,p.Q190H |
| PHLPP2(NM_015020,PH domain and leucine rich repeat protein phosphatase 2,1323aa) | g.16:71715735T>C,c.809A>G,p.Y270C |
| PHLPP2(NM_015020,PH domain and leucine rich repeat protein phosphatase 2,1323aa) | g.16:71713301T>C,c.1028A>G,p.N343S |
| PHLPP2(NM_015020,PH domain and leucine rich repeat protein phosphatase 2,1323aa) | g.16:71712731C>A,c.1195G>T,p.A399S |