| 基因名 | 突变 |
|---|---|
| PRSS27(NM_031948,protease, serine 27,290aa) | g.16:2764113G>A,c.461C>T,p.T154M |
| PRSS27(NM_031948,protease, serine 27,290aa) | g.16:2763681C>T,c.527G>A,p.R176Q |
| PRSS27(NM_031948,protease, serine 27,290aa) | g.16:2763649C>T,c.559G>A,p.D187N |
| PRSS27(NM_031948,protease, serine 27,290aa) | g.16:2763528A>C,c.678+2T>G,p.226Donor |
| PRSS27(NM_031948,protease, serine 27,290aa) | g.16:2762637A>G,c.857T>C,p.L286S |
| PRSS27(NM_031948,protease, serine 27,290aa) | g.16:2762632C>T,c.862G>A,p.G288S |
| PRSS23(NM_007173,protease, serine, 23,383aa) | g.11:86519468G>A,c.783G>A,p.M261I |
| PRSS23(NM_007173,protease, serine, 23,383aa) | g.11:86519385A>G,c.700A>G,p.I234V |
| PRSS23(NM_007173,protease, serine, 23,383aa) | g.11:86519352C>T,c.667C>T,p.R223W |
| PRSS23(NM_007173,protease, serine, 23,383aa) | g.11:86519328G>A,c.643G>A,p.E215K |
| PRSS23(NM_007173,protease, serine, 23,383aa) | g.11:86519181G>T,c.496G>T,p.A166S |
| PRSS23(NM_007173,protease, serine, 23,383aa) | g.11:86519070C>A,c.385C>A,p.Q129K |
| PRSS23(NM_007173,protease, serine, 23,383aa) | g.11:86519032G>A,c.347G>A,p.R116Q |
| PRSS23(NM_007173,protease, serine, 23,383aa) | g.11:86518851G>A,c.166G>A,p.E56K |
| PRSS22(NM_022119,protease, serine, 22,317aa) | g.16:2906219G>A,c.145C>T,p.R49W |
| PRSS22(NM_022119,protease, serine, 22,317aa) | g.16:2905689G>A,c.445C>T,p.R149C |
| PRSS22(NM_022119,protease, serine, 22,317aa) | g.16:2903942C>T,c.641G>A,p.R214Q |
| PRSS21(NM_006799,protease, serine, 21 (testisin),314aa) | g.16:2871452G>A,c.791G>A,p.R264Q |
| PRSS21(NM_006799,protease, serine, 21 (testisin),314aa) | g.16:2871103C>A,c.698C>A,p.A233D |
| PRSS21(NM_006799,protease, serine, 21 (testisin),314aa) | g.16:2871025T>C,c.620T>C,p.L207P |
| PRSS21(NM_006799,protease, serine, 21 (testisin),314aa) | g.16:2870961C>T,c.556C>T,p.P186S |
| PRSS1(NM_002769,protease, serine, 1 (trypsin 1),247aa) | g.7:142460848A>G,c.721A>G,p.N241D |
| PRSS1(NM_002769,protease, serine, 1 (trypsin 1),247aa) | g.7:142460838A>C,c.711A>C,p.K237N |
| PRSS1(NM_002769,protease, serine, 1 (trypsin 1),247aa) | g.7:142460836A>G,c.709A>G,p.K237E |
| PRSS1(NM_002769,protease, serine, 1 (trypsin 1),247aa) | g.7:142460764G>A,c.637G>A,p.V213I |
| PRSS1(NM_002769,protease, serine, 1 (trypsin 1),247aa) | g.7:142460752C>G,c.625C>G,p.Q209E |
| PRSS1(NM_002769,protease, serine, 1 (trypsin 1),247aa) | g.7:142460750G>C,c.623G>C,p.G208A |
| PRSS1(NM_002769,protease, serine, 1 (trypsin 1),247aa) | g.7:142460744G>C,c.617G>C,p.C206S |