| Genename | Variants |
|---|---|
| PNPT1(NM_033109,polyribonucleotide nucleotidyltransferase 1,783aa) | g.2:55912120T>C,c.361A>G,p.I121V |
| PNPT1(NM_033109,polyribonucleotide nucleotidyltransferase 1,783aa) | g.2:55910930T>C,c.443A>G,p.Y148C |
| PNPT1(NM_033109,polyribonucleotide nucleotidyltransferase 1,783aa) | g.2:55872558del,c.1748del,p.583fs |
| PNPT1(NM_033109,polyribonucleotide nucleotidyltransferase 1,783aa) | g.2:55872538T>C,c.1768A>G,p.N590D |
| PNPT1(NM_033109,polyribonucleotide nucleotidyltransferase 1,783aa) | g.2:55872526A>C,c.1780T>G,p.S594A |
| PNPO(NM_018129,pyridoxamine 5'-phosphate oxidase,261aa) | g.17:46023353G>A,c.544G>A,p.E182K |
| PNPO(NM_018129,pyridoxamine 5'-phosphate oxidase,261aa) | g.17:46022065G>A,c.347G>A,p.R116Q |
| PNP(NM_000270,purine nucleoside phosphorylase,289aa) | g.14:20944569G>A,c.679G>A,p.V227I |
| PNP(NM_000270,purine nucleoside phosphorylase,289aa) | g.14:20943408G>A,c.649G>A,p.V217I |
| PNP(NM_000270,purine nucleoside phosphorylase,289aa) | g.14:20943262G>A,c.503G>A,p.R168Q |
| PNP(NM_000270,purine nucleoside phosphorylase,289aa) | g.14:20940606G>A,c.151G>A,p.G51S |
| PNPLA8(NM_015723,patatin-like phospholipase domain containing 8,782aa) | g.7:108155149C>G,c.787G>C,p.V263L |
| PNPLA8(NM_015723,patatin-like phospholipase domain containing 8,782aa) | g.7:108154911T>C,c.1025A>G,p.E342G |
| PNPLA8(NM_015723,patatin-like phospholipase domain containing 8,782aa) | g.7:108154659A>C,c.1135T>G,p.C379G |
| PNPLA7(NM_001098537,patatin-like phospholipase domain containing 7,1342aa) | g.9:140441844G>A,c.110C>T,p.T37M |
| PNPLA7(NM_001098537,patatin-like phospholipase domain containing 7,1342aa) | g.9:140441836C>T,c.118G>A,p.A40T |
| PNPLA7(NM_001098537,patatin-like phospholipase domain containing 7,1342aa) | g.9:140441299G>A,c.256C>T,p.R86W |
| PNPLA7(NM_001098537,patatin-like phospholipase domain containing 7,1342aa) | g.9:140438005C>T,c.385G>A,p.E129K |
| PNPLA7(NM_001098537,patatin-like phospholipase domain containing 7,1342aa) | g.9:140437120G>A,c.640C>T,p.R214W |
| PNPLA7(NM_001098537,patatin-like phospholipase domain containing 7,1342aa) | g.9:140435171C>T,c.670G>A,p.G224S |
| PNPLA7(NM_001098537,patatin-like phospholipase domain containing 7,1342aa) | g.9:140435134T>C,c.707A>G,p.D236G |
| PNPLA7(NM_001098537,patatin-like phospholipase domain containing 7,1342aa) | g.9:140435129C>T,c.712G>A,p.V238I |
| PNPLA7(NM_001098537,patatin-like phospholipase domain containing 7,1342aa) | g.9:140417276G>A,c.781C>T,p.R261C |
| PNPLA7(NM_001098537,patatin-like phospholipase domain containing 7,1342aa) | g.9:140417275C>T,c.782G>A,p.R261H |
| PNPLA7(NM_001098537,patatin-like phospholipase domain containing 7,1342aa) | g.9:140417248C>T,c.809G>A,p.R270Q |
| PNPLA7(NM_001098537,patatin-like phospholipase domain containing 7,1342aa) | g.9:140417189C>T,c.868G>A,p.V290M |
| PNPLA7(NM_001098537,patatin-like phospholipase domain containing 7,1342aa) | g.9:140414410C>T,c.1043G>A,p.R348Q |
| PNPLA7(NM_001098537,patatin-like phospholipase domain containing 7,1342aa) | g.9:140409953G>A,c.1103C>T,p.P368L |