| 基因名 | 突变 |
|---|---|
| PRSS55(NM_198464,protease, serine, 55,352aa) | g.8:10396002C>A,c.758C>A,p.P253H |
| PRSS55(NM_198464,protease, serine, 55,352aa) | g.8:10390492G>T,c.675G>T,p.M225I |
| PRSS55(NM_198464,protease, serine, 55,352aa) | g.8:10390452C>T,c.635C>T,p.A212V |
| PRSS55(NM_198464,protease, serine, 55,352aa) | g.8:10389028G>C,c.571G>C,p.V191L |
| PRSS55(NM_198464,protease, serine, 55,352aa) | g.8:10389017G>A,c.560G>A,p.R187H |
| PRSS55(NM_198464,protease, serine, 55,352aa) | g.8:10389016C>T,c.559C>T,p.R187C |
| PRSS55(NM_198464,protease, serine, 55,352aa) | g.8:10388892C>A,c.435C>A,p.H145Q |
| PRSS55(NM_198464,protease, serine, 55,352aa) | g.8:10388876C>G,c.419C>G,p.A140G |
| PRSS55(NM_198464,protease, serine, 55,352aa) | g.8:10388824G>A,c.367G>A,p.V123M |
| PRSS55(NM_198464,protease, serine, 55,352aa) | g.8:10388820T>A,c.363T>A,p.S121R |
| PRSS55(NM_198464,protease, serine, 55,352aa) | g.8:10387210G>T,c.347+1G>T,p.116Donor |
| PRSS55(NM_198464,protease, serine, 55,352aa) | g.8:10387071G>C,c.209G>C,p.G70A |
| PRSS55(NM_198464,protease, serine, 55,352aa) | g.8:10387040G>A,c.178G>A,p.E60K |
| PRSS55(NM_198464,protease, serine, 55,352aa) | g.8:10383231C>G,c.136C>G,p.P46A |
| PRSS55(NM_198464,protease, serine, 55,352aa) | g.8:10383226C>G,c.131C>G,p.P44R |
| PRSS55(NM_198464,protease, serine, 55,352aa) | g.8:10383138G>A,c.43G>A,p.G15R |
| PRSS54(NM_001080492,protease, serine, 54,395aa) | g.16:58327705C>T,c.16G>A,p.G6S |
| PRSS54(NM_001080492,protease, serine, 54,395aa) | g.16:58324936A>G,c.190T>C,p.Y64H |
| PRSS54(NM_001080492,protease, serine, 54,395aa) | g.16:58320022G>A,c.341C>T,p.T114I |
| PRSS54(NM_001080492,protease, serine, 54,395aa) | g.16:58319950G>A,c.413C>T,p.A138V |
| PRSS54(NM_001080492,protease, serine, 54,395aa) | g.16:58318604T>C,c.544A>G,p.S182G |
| PRSS54(NM_001080492,protease, serine, 54,395aa) | g.16:58318583C>T,c.565G>A,p.V189M |
| PRSS54(NM_001080492,protease, serine, 54,395aa) | g.16:58318562G>C,c.586C>G,p.P196A |
| PRSS54(NM_001080492,protease, serine, 54,395aa) | g.16:58314598C>T,c.718G>A,p.V240I |
| PRSS54(NM_001080492,protease, serine, 54,395aa) | g.16:58314433T>C,c.883A>G,p.T295A |
| PRSS54(NM_001080492,protease, serine, 54,395aa) | g.16:58314258G>T,c.1058C>A,p.P353H |
| PRSS53(NM_001039503,protease, serine, 53,553aa) | g.16:31099011T>C,c.89A>G,p.Q30R |
| PRSS53(NM_001039503,protease, serine, 53,553aa) | g.16:31099000C>T,c.100G>A,p.G34S |