| 基因名 | 突变 |
|---|---|
| PRTFDC1(NM_020200,phosphoribosyl transferase domain containing 1,225aa) | g.10:25241489C>T,c.16G>A,p.E6K |
| PRTFDC1(NM_020200,phosphoribosyl transferase domain containing 1,225aa) | g.10:25147326C>A,c.418G>T,p.V140F |
| PRTFDC1(NM_020200,phosphoribosyl transferase domain containing 1,225aa) | g.10:25145915C>T,c.433G>A,p.G145R |
| PRTFDC1(NM_020200,phosphoribosyl transferase domain containing 1,225aa) | g.10:25144247A>G,c.553T>C,p.Y185H |
| PRTFDC1(NM_020200,phosphoribosyl transferase domain containing 1,225aa) | g.10:25138812G>T,c.639C>A,p.C213X |
| PRSS8(NM_002773,protease, serine, 8,343aa) | g.16:31146797C>T,c.23G>A,p.G8E |
| PRSS8(NM_002773,protease, serine, 8,343aa) | g.16:31143833C>T,c.622G>A,p.D208N |
| PRSS58(NM_001001317,protease, serine, 58,241aa) | g.7:141952371C>T,c.497G>A,p.R166H |
| PRSS58(NM_001001317,protease, serine, 58,241aa) | g.7:141952308C>T,c.560G>A,p.R187K |
| PRSS57(NM_214710,protease, serine, 57,283aa) | g.19:695421C>T,c.10G>A,p.G4R |
| PRSS57(NM_214710,protease, serine, 57,283aa) | g.19:695352C>A,c.79G>T,p.A27S |
| PRSS57(NM_214710,protease, serine, 57,283aa) | g.19:694833C>T,c.217G>A,p.A73T |
| PRSS57(NM_214710,protease, serine, 57,283aa) | g.19:691995G>A,c.244C>T,p.R82C |
| PRSS57(NM_214710,protease, serine, 57,283aa) | g.19:687142G>A,c.428C>T,p.P143L |
| PRSS57(NM_214710,protease, serine, 57,283aa) | g.19:687112G>A,c.458C>T,p.A153V |
| PRSS57(NM_214710,protease, serine, 57,283aa) | g.19:687055G>A,c.515C>T,p.P172L |
| PRSS57(NM_214710,protease, serine, 57,283aa) | g.19:687035T>A,c.535A>T,p.K179X |
| PRSS57(NM_214710,protease, serine, 57,283aa) | g.19:685913C>T,c.655G>A,p.G219R |
| PRSS57(NM_214710,protease, serine, 57,283aa) | g.19:685829C>T,c.739G>A,p.V247M |
| PRSS57(NM_214710,protease, serine, 57,283aa) | g.19:685781G>A,c.787C>T,p.R263W |
| PRSS57(NM_214710,protease, serine, 57,283aa) | g.19:685721C>T,c.847G>A,p.A283T |
| PRSS56(NM_001195129,protease, serine, 56,603aa) | g.2:233390199C>G,c.1795C>G,p.P599A |
| PRSS56(NM_001195129,protease, serine, 56,603aa) | g.2:233388180G>T,c.904G>T,p.V302F |
| PRSS56(NM_001195129,protease, serine, 56,603aa) | g.2:233385396G>A,c.88G>A,p.A30T |
| PRSS56(NM_001195129,protease, serine, 56,603aa) | g.2:233385321G>A,c.13G>A,p.V5M |
| PRSS55(NM_198464,protease, serine, 55,352aa) | g.8:10396265C>G,c.1021C>G,p.P341A |
| PRSS55(NM_198464,protease, serine, 55,352aa) | g.8:10396078G>T,c.834G>T,p.E278D |
| PRSS55(NM_198464,protease, serine, 55,352aa) | g.8:10396056G>C,c.812G>C,p.S271T |