| 基因名 | 突变 |
|---|---|
| PRSS53(NM_001039503,protease, serine, 53,553aa) | g.16:31098107C>A,c.355G>T,p.A119S |
| PRSS53(NM_001039503,protease, serine, 53,553aa) | g.16:31097788C>T,c.533G>A,p.R178H |
| PRSS53(NM_001039503,protease, serine, 53,553aa) | g.16:31097782C>T,c.539G>A,p.R180H |
| PRSS53(NM_001039503,protease, serine, 53,553aa) | g.16:31097770C>T,c.551G>A,p.R184H |
| PRSS53(NM_001039503,protease, serine, 53,553aa) | g.16:31097314G>A,c.854C>T,p.P285L |
| PRSS53(NM_001039503,protease, serine, 53,553aa) | g.16:31097297C>A,c.871G>T,p.D291Y |
| PRSS53(NM_001039503,protease, serine, 53,553aa) | g.16:31096495G>C,c.970C>G,p.L324V |
| PRSS53(NM_001039503,protease, serine, 53,553aa) | g.16:31096461G>A,c.1004C>T,p.A335V |
| PRSS53(NM_001039503,protease, serine, 53,553aa) | g.16:31096164G>C,c.1216C>G,p.P406A |
| PRSS50(NM_013270,protease, serine, 50,385aa) | g.3:46759293C>T,c.22G>A,p.V8I |
| PRSS50(NM_013270,protease, serine, 50,385aa) | g.3:46759228_46759229insAGC,c.86_87insGCT,p.29ins1aa |
| PRSS50(NM_013270,protease, serine, 50,385aa) | g.3:46759010T>G,c.224A>C,p.Q75P |
| PRSS50(NM_013270,protease, serine, 50,385aa) | g.3:46757137C>T,c.358G>A,p.V120M |
| PRSS50(NM_013270,protease, serine, 50,385aa) | g.3:46755975A>G,c.487T>C,p.S163P |
| PRSS50(NM_013270,protease, serine, 50,385aa) | g.3:46755930C>T,c.532G>A,p.A178T |
| PRSS50(NM_013270,protease, serine, 50,385aa) | g.3:46755885G>A,c.577C>T,p.R193W |
| PRSS50(NM_013270,protease, serine, 50,385aa) | g.3:46755884C>T,c.578G>A,p.R193Q |
| PRSS50(NM_013270,protease, serine, 50,385aa) | g.3:46755773G>A,c.689C>T,p.T230M |
| PRSS50(NM_013270,protease, serine, 50,385aa) | g.3:46755747G>A,c.715C>T,p.R239C |
| PRSS50(NM_013270,protease, serine, 50,385aa) | g.3:46755734G>A,c.728C>T,p.T243M |
| PRSS50(NM_013270,protease, serine, 50,385aa) | g.3:46754526C>G,c.786G>C,p.E262D |
| PRSS50(NM_013270,protease, serine, 50,385aa) | g.3:46754470G>T,c.842C>A,p.T281N |
| PRSS50(NM_013270,protease, serine, 50,385aa) | g.3:46753785G>A,c.1109C>T,p.T370I |
| PRSS48(NM_183375,protease, serine, 48,328aa) | g.4:152212603T>G,c.985T>G,p.X329E |
| PRSS48(NM_183375,protease, serine, 48,328aa) | g.4:152212526T>C,c.908T>C,p.V303A |
| PRSS48(NM_183375,protease, serine, 48,328aa) | g.4:152212486C>T,c.868C>T,p.R290C |
| PRSS48(NM_183375,protease, serine, 48,328aa) | g.4:152212475T>C,c.857T>C,p.L286P |
| PRSS48(NM_183375,protease, serine, 48,328aa) | g.4:152204319C>T,c.532C>T,p.R178C |