| Genename | Variants |
|---|---|
| PUS3(NM_031307,pseudouridylate synthase 3,481aa) | g.11:125763862C>T,c.1264G>A,p.G422R |
| PUS3(NM_031307,pseudouridylate synthase 3,481aa) | g.11:125763754C>T,c.1372G>A,p.E458K |
| PUS3(NM_031307,pseudouridylate synthase 3,481aa) | g.11:125763746C>G,c.1380G>C,p.E460D |
| PUS1(NM_025215,pseudouridylate synthase 1,427aa) | g.12:132426506C>T,c.1214C>T,p.T405M |
| PUS1(NM_025215,pseudouridylate synthase 1,427aa) | g.12:132426368C>T,c.1076C>T,p.A359V |
| PUS1(NM_025215,pseudouridylate synthase 1,427aa) | g.12:132416813G>A,c.397G>A,p.D133N |
| PUS10(NM_144709,pseudouridylate synthase 10,529aa) | g.2:61238973G>A,c.53C>T,p.T18I |
| PUS10(NM_144709,pseudouridylate synthase 10,529aa) | g.2:61189999C>T,c.750G>A,p.M250I |
| PUS10(NM_144709,pseudouridylate synthase 10,529aa) | g.2:61175245G>A,c.1384C>T,p.H462Y |
| PUS10(NM_144709,pseudouridylate synthase 10,529aa) | g.2:61172224G>A,c.1471C>T,p.H491Y |
| PURG(NM_001015508,purine-rich element binding protein G,322aa) | g.8:30890223T>C,c.76A>G,p.S26G |
| PURG(NM_001015508,purine-rich element binding protein G,322aa) | g.8:30889577T>G,c.722A>C,p.E241A |
| PURB(NM_033224,purine-rich element binding protein B,312aa) | g.7:44924316G>A,c.632C>T,p.P211L |
| PURA(NM_005859,purine-rich element binding protein A,322aa) | g.5:139494615G>C,c.849G>C,p.E283D |
| PUM2(NM_015317,pumilio RNA-binding family member 2,1064aa) | g.2:20518340G>T,c.118C>A,p.L40I |
| PUM2(NM_015317,pumilio RNA-binding family member 2,1064aa) | g.2:20508343C>T,c.521G>A,p.R174H |
| PUM2(NM_015317,pumilio RNA-binding family member 2,1064aa) | g.2:20494189T>C,c.1100A>G,p.N367S |
| PUM2(NM_015317,pumilio RNA-binding family member 2,1064aa) | g.2:20453591T>C,c.3055A>G,p.M1019V |
| PUM1(NM_001020658,pumilio RNA-binding family member 1,1188aa) | g.1:31468037C>T,c.751G>A,p.D251N |
| PUM1(NM_001020658,pumilio RNA-binding family member 1,1188aa) | g.1:31467949T>C,c.839A>G,p.N280S |
| PUM1(NM_001020658,pumilio RNA-binding family member 1,1188aa) | g.1:31465505C>T,c.890G>A,p.R297H |
| PUM1(NM_001020658,pumilio RNA-binding family member 1,1188aa) | g.1:31465413T>G,c.982A>C,p.T328P |
| PUM1(NM_001020658,pumilio RNA-binding family member 1,1188aa) | g.1:31425154T>C,c.2648A>G,p.N883S |
| PUM1(NM_001020658,pumilio RNA-binding family member 1,1188aa) | g.1:31422976T>C,c.2854A>G,p.I952V |
| PTX4(NM_001013658,pentraxin 4, long,473aa) | g.16:1538464C>T,c.5G>A,p.G2E |
| PTX4(NM_001013658,pentraxin 4, long,473aa) | g.16:1538425C>A,c.44G>T,p.S15I |
| PTX4(NM_001013658,pentraxin 4, long,473aa) | g.16:1538363C>A,c.106G>T,p.G36C |
| PTX4(NM_001013658,pentraxin 4, long,473aa) | g.16:1538356G>A,c.113C>T,p.S38L |