| 基因名 | 突变 |
|---|---|
| TGM3(NM_003245,transglutaminase 3,693aa) | g.20:2297790G>A,c.746G>A,p.S249N |
| TGM3(NM_003245,transglutaminase 3,693aa) | g.20:2297777C>T,c.733C>T,p.R245W |
| TGM3(NM_003245,transglutaminase 3,693aa) | g.20:2297721G>A,c.677G>A,p.S226N |
| TGM3(NM_003245,transglutaminase 3,693aa) | g.20:2291722A>C,c.487A>C,p.I163L |
| TGM3(NM_003245,transglutaminase 3,693aa) | g.20:2290351C>T,c.56C>T,p.A19V |
| TGM3(NM_003245,transglutaminase 3,693aa) | g.20:2290333C>A,c.38C>A,p.T13K |
| TGM2(NM_004613,transglutaminase 2,687aa) | g.20:36784455C>T,c.227G>A,p.R76H |
| TGM2(NM_004613,transglutaminase 2,687aa) | g.20:36784354C>T,c.328G>A,p.A110T |
| TGM2(NM_004613,transglutaminase 2,687aa) | g.20:36776386C>T,c.658G>A,p.V220M |
| TGM2(NM_004613,transglutaminase 2,687aa) | g.20:36775190C>T,c.788G>A,p.R263H |
| TGM2(NM_004613,transglutaminase 2,687aa) | g.20:36769749G>A,c.1034C>T,p.P345L |
| TGM2(NM_004613,transglutaminase 2,687aa) | g.20:36767858C>T,c.1298G>A,p.R433Q |
| TGM2(NM_004613,transglutaminase 2,687aa) | g.20:36766724T>C,c.1406A>G,p.E469G |
| TGM2(NM_004613,transglutaminase 2,687aa) | g.20:36766524G>A,c.1606C>T,p.P536S |
| TGM2(NM_004613,transglutaminase 2,687aa) | g.20:36760894C>A,c.1624G>T,p.V542F |
| TGM2(NM_004613,transglutaminase 2,687aa) | g.20:36760744G>A,c.1774C>T,p.R592W |
| TGM2(NM_004613,transglutaminase 2,687aa) | g.20:36759574G>T,c.1834C>A,p.P612T |
| TGM1(NM_000359,transglutaminase 1,817aa) | g.14:24731498T>C,c.61A>G,p.T21A |
| TGM1(NM_000359,transglutaminase 1,817aa) | g.14:24731462C>T,c.97G>A,p.G33R |
| TGM1(NM_000359,transglutaminase 1,817aa) | g.14:24731459G>A,c.100C>T,p.R34C |
| TGM1(NM_000359,transglutaminase 1,817aa) | g.14:24731434G>T,c.125C>A,p.S42Y |
| TGM1(NM_000359,transglutaminase 1,817aa) | g.14:24731392G>A,c.167C>T,p.A56V |
| TGM1(NM_000359,transglutaminase 1,817aa) | g.14:24731026T>C,c.383A>G,p.E128G |
| TGM1(NM_000359,transglutaminase 1,817aa) | g.14:24730989T>C,c.420A>G,p.I140M |
| TGM1(NM_000359,transglutaminase 1,817aa) | g.14:24730946G>A,c.463C>T,p.R155W |
| TGM1(NM_000359,transglutaminase 1,817aa) | g.14:24729863G>A,c.550C>T,p.P184S |
| TGM1(NM_000359,transglutaminase 1,817aa) | g.14:24729790C>T,c.623G>A,p.R208Q |
| TGM1(NM_000359,transglutaminase 1,817aa) | g.14:24728971C>T,c.923G>A,p.R308Q |