| 基因名 | 突变 |
|---|---|
| PRSS1(NM_002769,protease, serine, 1 (trypsin 1),247aa) | g.7:142460369G>A,c.542G>A,p.S181N |
| PRSS1(NM_002769,protease, serine, 1 (trypsin 1),247aa) | g.7:142460339G>A,c.512G>A,p.C171Y |
| PRSS1(NM_002769,protease, serine, 1 (trypsin 1),247aa) | g.7:142460335A>G,c.508A>G,p.K170E |
| PRSS1(NM_002769,protease, serine, 1 (trypsin 1),247aa) | g.7:142460313T>C,c.486T>C,p.D162D |
| PRSS1(NM_002769,protease, serine, 1 (trypsin 1),247aa) | g.7:142460296G>A,c.469G>A,p.E157K |
| PRSS1(NM_002769,protease, serine, 1 (trypsin 1),247aa) | g.7:142460284G>C,c.457G>C,p.D153H |
| PRSS1(NM_002769,protease, serine, 1 (trypsin 1),247aa) | g.7:142459834C>T,c.410C>T,p.T137M |
| PRSS1(NM_002769,protease, serine, 1 (trypsin 1),247aa) | g.7:142459797A>G,c.373A>G,p.T125A |
| PRSS1(NM_002769,protease, serine, 1 (trypsin 1),247aa) | g.7:142459771G>A,c.347G>A,p.R116H |
| PRSS1(NM_002769,protease, serine, 1 (trypsin 1),247aa) | g.7:142459708G>A,c.284G>A,p.R95H |
| PRSS1(NM_002769,protease, serine, 1 (trypsin 1),247aa) | g.7:142459626C>T,c.202C>T,p.R68C |
| PRSS1(NM_002769,protease, serine, 1 (trypsin 1),247aa) | g.7:142458566G>A,c.200+1G>A,p.67Donor |
| PRSS1(NM_002769,protease, serine, 1 (trypsin 1),247aa) | g.7:142458550G>C,c.185G>C,p.G62A |
| PRSS1(NM_002769,protease, serine, 1 (trypsin 1),247aa) | g.7:142458531C>T,c.166C>T,p.Q56X |
| PRSS1(NM_002769,protease, serine, 1 (trypsin 1),247aa) | g.7:142458527C>G,c.162C>G,p.N54K |
| PRSS1(NM_002769,protease, serine, 1 (trypsin 1),247aa) | g.7:142458526A>G,c.161A>G,p.N54S |
| PRSS1(NM_002769,protease, serine, 1 (trypsin 1),247aa) | g.7:142458523T>A,c.158T>A,p.I53N |
| PRSS1(NM_002769,protease, serine, 1 (trypsin 1),247aa) | g.7:142458511G>T,c.146G>T,p.G49V |
| PRSS1(NM_002769,protease, serine, 1 (trypsin 1),247aa) | g.7:142458451A>T,c.86A>T,p.N29I |
| PRSS1(NM_002769,protease, serine, 1 (trypsin 1),247aa) | g.7:142457343C>T,c.8C>T,p.P3L |
| PRSS16(NM_005865,protease, serine, 16 (thymus),514aa) | g.6:27223065_27223079del,c.1516_1530del,p.506_510del |
| PRSS16(NM_005865,protease, serine, 16 (thymus),514aa) | g.6:27219581C>T,c.770C>T,p.S257L |
| PRSS16(NM_005865,protease, serine, 16 (thymus),514aa) | g.6:27219016G>A,c.690G>A,p.M230I |
| PRSS16(NM_005865,protease, serine, 16 (thymus),514aa) | g.6:27216699G>T,c.311G>T,p.S104I |
| PRSS16(NM_005865,protease, serine, 16 (thymus),514aa) | g.6:27216680C>T,c.292C>T,p.H98Y |
| PRSS12(NM_003619,protease, serine, 12 (neurotrypsin, motopsin),875aa) | g.4:119273857C>G,c.19G>C,p.V7L |
| PRSS12(NM_003619,protease, serine, 12 (neurotrypsin, motopsin),875aa) | g.4:119273712C>G,c.164G>C,p.R55T |
| PRSS12(NM_003619,protease, serine, 12 (neurotrypsin, motopsin),875aa) | g.4:119259460C>T,c.512G>A,p.R171Q |