| 基因名 | 突变 |
|---|---|
| PITRM1(NM_001242307,pitrilysin metallopeptidase 1,1038aa) | g.10:3180288C>T,c.3052G>A,p.G1018S |
| PITRM1(NM_001242307,pitrilysin metallopeptidase 1,1038aa) | g.10:3180227T>C,c.3113A>G,p.Q1038R |
| PITPNM3(NM_031220,PITPNM family member 3,974aa) | g.17:6441376G>A,c.49C>T,p.P17S |
| PITPNM3(NM_031220,PITPNM family member 3,974aa) | g.17:6441363C>T,c.62G>A,p.R21Q |
| PITPNM3(NM_031220,PITPNM family member 3,974aa) | g.17:6406883C>T,c.238G>A,p.A80T |
| PITPNM3(NM_031220,PITPNM family member 3,974aa) | g.17:6386883C>T,c.541G>A,p.V181I |
| PITPNM3(NM_031220,PITPNM family member 3,974aa) | g.17:6381944C>T,c.700G>A,p.A234T |
| PITPNM3(NM_031220,PITPNM family member 3,974aa) | g.17:6381357C>T,c.838G>A,p.A280T |
| PITPNM3(NM_031220,PITPNM family member 3,974aa) | g.17:6381333C>A,c.862G>T,p.A288S |
| PITPNM3(NM_031220,PITPNM family member 3,974aa) | g.17:6380424G>A,c.1010C>T,p.P337L |
| PITPNM3(NM_031220,PITPNM family member 3,974aa) | g.17:6377824C>T,c.1186G>A,p.D396N |
| PITPNM3(NM_031220,PITPNM family member 3,974aa) | g.17:6371557C>G,c.1878G>C,p.Q626H |
| PITPNM3(NM_031220,PITPNM family member 3,974aa) | g.17:6360954A>G,c.2579T>C,p.I860T |
| PITPNM2(NM_020845,phosphatidylinositol transfer protein, membrane-associated 2,1349aa) | g.12:123519112G>A,c.26C>T,p.P9L |
| PITPNM2(NM_020845,phosphatidylinositol transfer protein, membrane-associated 2,1349aa) | g.12:123489846C>T,c.893G>A,p.R298H |
| PITPNM2(NM_020845,phosphatidylinositol transfer protein, membrane-associated 2,1349aa) | g.12:123489024C>T,c.965G>A,p.R322H |
| PITPNM2(NM_020845,phosphatidylinositol transfer protein, membrane-associated 2,1349aa) | g.12:123481923C>T,c.1421G>A,p.R474H |
| PITPNM2(NM_020845,phosphatidylinositol transfer protein, membrane-associated 2,1349aa) | g.12:123481019C>T,c.1768G>A,p.V590M |
| PITPNM2(NM_020845,phosphatidylinositol transfer protein, membrane-associated 2,1349aa) | g.12:123480042G>A,c.1948C>T,p.R650C |
| PITPNM2(NM_020845,phosphatidylinositol transfer protein, membrane-associated 2,1349aa) | g.12:123479513C>T,c.2068G>A,p.V690M |
| PITPNM2(NM_020845,phosphatidylinositol transfer protein, membrane-associated 2,1349aa) | g.12:123477127G>A,c.2323C>T,p.R775W |
| PITPNM2(NM_020845,phosphatidylinositol transfer protein, membrane-associated 2,1349aa) | g.12:123471883C>T,c.3358G>A,p.V1120M |
| PITPNM2(NM_020845,phosphatidylinositol transfer protein, membrane-associated 2,1349aa) | g.12:123470761C>T,c.3863G>A,p.R1288H |
| PITPNM1(NM_004910,phosphatidylinositol transfer protein, membrane-associated 1,1244aa) | g.11:67270058_67270059insG,c.209_210insC,p.70fs |
| PITPNM1(NM_004910,phosphatidylinositol transfer protein, membrane-associated 1,1244aa) | g.11:67269864T>C,c.314A>G,p.E105G |
| PITPNM1(NM_004910,phosphatidylinositol transfer protein, membrane-associated 1,1244aa) | g.11:67269441G>A,c.532C>T,p.R178W |
| PITPNM1(NM_004910,phosphatidylinositol transfer protein, membrane-associated 1,1244aa) | g.11:67267697C>T,c.836G>A,p.R279Q |
| PITPNM1(NM_004910,phosphatidylinositol transfer protein, membrane-associated 1,1244aa) | g.11:67267629C>T,c.904G>A,p.D302N |