| 基因名 | 突变 |
|---|---|
| TGM6(NM_198994,transglutaminase 6,706aa) | g.20:2375128G>A,c.38G>A,p.R13Q |
| TGM5(NM_201631,transglutaminase 5,720aa) | g.15:43552744G>C,c.44C>G,p.S15C |
| TGM5(NM_201631,transglutaminase 5,720aa) | g.15:43552663G>T,c.125C>A,p.T42N |
| TGM5(NM_201631,transglutaminase 5,720aa) | g.15:43552372C>T,c.314G>A,p.C105Y |
| TGM5(NM_201631,transglutaminase 5,720aa) | g.15:43552360G>A,c.326C>T,p.T109M |
| TGM5(NM_201631,transglutaminase 5,720aa) | g.15:43552349C>A,c.337G>T,p.G113C |
| TGM5(NM_201631,transglutaminase 5,720aa) | g.15:43548812T>C,c.509A>G,p.Q170R |
| TGM5(NM_201631,transglutaminase 5,720aa) | g.15:43545096G>C,c.723C>G,p.N241K |
| TGM5(NM_201631,transglutaminase 5,720aa) | g.15:43533132C>T,c.919G>A,p.D307N |
| TGM5(NM_201631,transglutaminase 5,720aa) | g.15:43531411G>C,c.1055C>G,p.A352G |
| TGM5(NM_201631,transglutaminase 5,720aa) | g.15:43531252C>T,c.1108G>A,p.V370I |
| TGM5(NM_201631,transglutaminase 5,720aa) | g.15:43531185G>A,c.1175C>T,p.T392M |
| TGM5(NM_201631,transglutaminase 5,720aa) | g.15:43531126_43531127insC,c.1233_1234insG,p.411fs |
| TGM5(NM_201631,transglutaminase 5,720aa) | g.15:43531051G>A,c.1309C>T,p.R437W |
| TGM5(NM_201631,transglutaminase 5,720aa) | g.15:43527871C>T,c.1510G>A,p.V504M |
| TGM5(NM_201631,transglutaminase 5,720aa) | g.15:43527819T>C,c.1562A>G,p.Q521R |
| TGM5(NM_201631,transglutaminase 5,720aa) | g.15:43527020T>C,c.1822A>G,p.K608E |
| TGM5(NM_201631,transglutaminase 5,720aa) | g.15:43525751C>T,c.2009+1G>A,p.670Donor |
| TGM4(NM_003241,transglutaminase 4,684aa) | g.3:44955078C>T,c.1916C>T,p.T639M |
| TGM4(NM_003241,transglutaminase 4,684aa) | g.3:44951843C>T,c.1589C>T,p.S530L |
| TGM4(NM_003241,transglutaminase 4,684aa) | g.3:44951677A>G,c.1423A>G,p.M475V |
| TGM4(NM_003241,transglutaminase 4,684aa) | g.3:44951650C>T,c.1396C>T,p.R466X |
| TGM4(NM_003241,transglutaminase 4,684aa) | g.3:44948674G>C,c.1309G>C,p.E437Q |
| TGM4(NM_003241,transglutaminase 4,684aa) | g.3:44948590G>A,c.1225G>A,p.V409I |
| TGM4(NM_003241,transglutaminase 4,684aa) | g.3:44948518G>A,c.1153G>A,p.V385I |
| TGM4(NM_003241,transglutaminase 4,684aa) | g.3:44948491A>G,c.1126A>G,p.I376V |
| TGM4(NM_003241,transglutaminase 4,684aa) | g.3:44948479C>T,c.1114C>T,p.R372C |
| TGM4(NM_003241,transglutaminase 4,684aa) | g.3:44945443C>A,c.1039C>A,p.Q347K |