| 基因名 | 突变 |
|---|---|
| PRSS48(NM_183375,protease, serine, 48,328aa) | g.4:152203427G>A,c.343G>A,p.V115I |
| PRSS48(NM_183375,protease, serine, 48,328aa) | g.4:152203338C>T,c.254C>T,p.S85L |
| PRSS48(NM_183375,protease, serine, 48,328aa) | g.4:152201053G>A,c.158G>A,p.C53Y |
| PRSS48(NM_183375,protease, serine, 48,328aa) | g.4:152201018_152201019insCAGGT,c.123_124insCAGGT,p.41fs |
| PRSS48(NM_183375,protease, serine, 48,328aa) | g.4:152200998G>A,c.103G>A,p.A35T |
| PRSS48(NM_183375,protease, serine, 48,328aa) | g.4:152200977G>A,c.82G>A,p.V28I |
| PRSS46(NM_001205271,protease, serine, 46,174aa) | g.3:46775583C>T,c.232G>A,p.V78I |
| PRSS46(NM_001205271,protease, serine, 46,174aa) | g.3:46775383A>G,c.263T>C,p.F88S |
| PRSS46(NM_001205271,protease, serine, 46,174aa) | g.3:46775326C>G,c.320G>C,p.S107T |
| PRSS45(NM_199183,protease, serine, 45,228aa) | g.3:46786162C>T,c.84G>A,p.W28X |
| PRSS45(NM_199183,protease, serine, 45,228aa) | g.3:46785582C>T,c.162G>A,p.M54I |
| PRSS45(NM_199183,protease, serine, 45,228aa) | g.3:46785518G>A,c.226C>T,p.R76W |
| PRSS45(NM_199183,protease, serine, 45,228aa) | g.3:46785517C>T,c.227G>A,p.R76Q |
| PRSS45(NM_199183,protease, serine, 45,228aa) | g.3:46785494C>T,c.250G>A,p.A84T |
| PRSS45(NM_199183,protease, serine, 45,228aa) | g.3:46784548G>T,c.308C>A,p.T103N |
| PRSS45(NM_199183,protease, serine, 45,228aa) | g.3:46784467G>A,c.389C>T,p.P130L |
| PRSS45(NM_199183,protease, serine, 45,228aa) | g.3:46783992C>T,c.535G>A,p.V179M |
| PRSS45(NM_199183,protease, serine, 45,228aa) | g.3:46783959T>C,c.568A>G,p.I190V |
| PRSS45(NM_199183,protease, serine, 45,228aa) | g.3:46783849C>T,c.678G>A,p.M226I |
| PRSS42(NM_182702,protease, serine, 42,293aa) | g.3:46875485G>A,c.101C>T,p.P34L |
| PRSS42(NM_182702,protease, serine, 42,293aa) | g.3:46875393A>T,c.193T>A,p.S65T |
| PRSS41(NM_001135086,protease, serine, 41,318aa) | g.16:2854975G>A,c.799G>A,p.V267M |
| PRSS41(NM_001135086,protease, serine, 41,318aa) | g.16:2854507T>G,c.698T>G,p.F233C |
| PRSS41(NM_001135086,protease, serine, 41,318aa) | g.16:2854494T>C,c.685T>C,p.W229R |
| PRSS41(NM_001135086,protease, serine, 41,318aa) | g.16:2849411C>G,c.421C>G,p.L141V |
| PRSS41(NM_001135086,protease, serine, 41,318aa) | g.16:2849409C>T,c.419C>T,p.A140V |
| PRSS41(NM_001135086,protease, serine, 41,318aa) | g.16:2849408G>A,c.418G>A,p.A140T |
| PRSS41(NM_001135086,protease, serine, 41,318aa) | g.16:2848986G>T,c.157G>T,p.A53S |