| 基因名 | 突变 |
|---|---|
| PRTN3(NM_002777,proteinase 3,256aa) | g.19:846298A>G,c.521A>G,p.N174S |
| PRTN3(NM_002777,proteinase 3,256aa) | g.19:846222G>A,c.445G>A,p.G149S |
| PRTN3(NM_002777,proteinase 3,256aa) | g.19:846150A>G,c.373A>G,p.S125G |
| PRTN3(NM_002777,proteinase 3,256aa) | g.19:844020G>A,c.355G>A,p.V119I |
| PRTN3(NM_002777,proteinase 3,256aa) | g.19:841045G>A,c.37G>A,p.V13M |
| PRTG(NM_173814,protogenin,1150aa) | g.15:56035093G>A,c.37C>T,p.P13S |
| PRTG(NM_173814,protogenin,1150aa) | g.15:56032727G>A,c.250C>T,p.R84W |
| PRTG(NM_173814,protogenin,1150aa) | g.15:56032665C>G,c.312G>C,p.E104D |
| PRTG(NM_173814,protogenin,1150aa) | g.15:56032583A>G,c.394T>C,p.S132P |
| PRTG(NM_173814,protogenin,1150aa) | g.15:55976103T>C,c.424A>G,p.I142V |
| PRTG(NM_173814,protogenin,1150aa) | g.15:55976015T>C,c.512A>G,p.N171S |
| PRTG(NM_173814,protogenin,1150aa) | g.15:55972797T>C,c.706A>G,p.T236A |
| PRTG(NM_173814,protogenin,1150aa) | g.15:55972312G>A,c.913C>T,p.R305W |
| PRTG(NM_173814,protogenin,1150aa) | g.15:55965738C>A,c.1683G>T,p.E561D |
| PRTG(NM_173814,protogenin,1150aa) | g.15:55965683C>T,c.1738G>A,p.G580S |
| PRTG(NM_173814,protogenin,1150aa) | g.15:55965592G>A,c.1829C>T,p.T610M |
| PRTG(NM_173814,protogenin,1150aa) | g.15:55964778C>G,c.1906G>C,p.V636L |
| PRTG(NM_173814,protogenin,1150aa) | g.15:55933382C>A,c.2066G>T,p.R689I |
| PRTG(NM_173814,protogenin,1150aa) | g.15:55929374G>A,c.2617C>T,p.R873C |
| PRTG(NM_173814,protogenin,1150aa) | g.15:55921043C>T,c.2783G>A,p.R928H |
| PRTG(NM_173814,protogenin,1150aa) | g.15:55916703T>G,c.2930A>C,p.K977T |
| PRTG(NM_173814,protogenin,1150aa) | g.15:55916584A>T,c.3049T>A,p.S1017T |
| PRTG(NM_173814,protogenin,1150aa) | g.15:55916560T>A,c.3073A>T,p.N1025Y |
| PRTG(NM_173814,protogenin,1150aa) | g.15:55912899A>C,c.3160T>G,p.F1054V |
| PRTG(NM_173814,protogenin,1150aa) | g.15:55912875T>A,c.3184A>T,p.I1062L |
| PRTG(NM_173814,protogenin,1150aa) | g.15:55912391G>A,c.3272C>T,p.S1091F |
| PRTG(NM_173814,protogenin,1150aa) | g.15:55912307C>A,c.3356G>T,p.G1119V |
| PRTFDC1(NM_020200,phosphoribosyl transferase domain containing 1,225aa) | g.10:25241502C>T,c.3G>A,p.M1I |