| 基因名 | 突变 |
|---|---|
| TGM1(NM_000359,transglutaminase 1,817aa) | g.14:24728340C>T,c.1100G>A,p.R367H |
| TGM1(NM_000359,transglutaminase 1,817aa) | g.14:24728337G>A,c.1103C>T,p.T368M |
| TGM1(NM_000359,transglutaminase 1,817aa) | g.14:24728305C>G,c.1135G>C,p.V379L |
| TGM1(NM_000359,transglutaminase 1,817aa) | g.14:24724663C>T,c.1552G>A,p.V518M |
| TGM1(NM_000359,transglutaminase 1,817aa) | g.14:24724656T>C,c.1559A>G,p.E520G |
| TGM1(NM_000359,transglutaminase 1,817aa) | g.14:24724343C>T,c.1762G>A,p.A588T |
| TGM1(NM_000359,transglutaminase 1,817aa) | g.14:24724286G>A,c.1819C>T,p.R607C |
| TGM1(NM_000359,transglutaminase 1,817aa) | g.14:24723428C>T,c.2155G>A,p.V719I |
| TGIF2LX(NM_138960,TGFB-induced factor homeobox 2-like, X-linked,241aa) | g.X:89177673G>A,c.589G>A,p.V197I |
| TGIF2LX(NM_138960,TGFB-induced factor homeobox 2-like, X-linked,241aa) | g.X:89177356A>G,c.272A>G,p.N91S |
| TGIF2LX(NM_138960,TGFB-induced factor homeobox 2-like, X-linked,241aa) | g.X:89177109G>C,c.25G>C,p.A9P |
| TGIF1(NM_170695,TGFB-induced factor homeobox 1,401aa) | g.18:3457607C>T,c.875C>T,p.P292L |
| TGIF1(NM_170695,TGFB-induced factor homeobox 1,401aa) | g.18:3457606C>T,c.874C>T,p.P292S |
| TGIF1(NM_170695,TGFB-induced factor homeobox 1,401aa) | g.18:3457496T>C,c.764T>C,p.V255A |
| TGIF1(NM_170695,TGFB-induced factor homeobox 1,401aa) | g.18:3457439A>T,c.707A>T,p.Q236L |
| TGIF1(NM_170695,TGFB-induced factor homeobox 1,401aa) | g.18:3452223del,c.246del,p.82fs |
| TGIF1(NM_170695,TGFB-induced factor homeobox 1,401aa) | g.18:3452222_3452223del,c.245_246del,p.82fs |
| TGIF1(NM_170695,TGFB-induced factor homeobox 1,401aa) | g.18:3452216del,c.239del,p.80fs |
| TGIF1(NM_170695,TGFB-induced factor homeobox 1,401aa) | g.18:3452188C>T,c.211C>T,p.P71S |
| TGIF1(NM_170695,TGFB-induced factor homeobox 1,401aa) | g.18:3452171G>A,c.194G>A,p.W65X |
| TGIF1(NM_170695,TGFB-induced factor homeobox 1,401aa) | g.18:3452067G>A,c.90G>A,p.W30X |
| TGIF1(NM_170695,TGFB-induced factor homeobox 1,401aa) | g.18:3452030C>T,c.53C>T,p.S18L |
| TGFBRAP1(NM_004257,transforming growth factor, beta receptor associated protein 1,860aa) | g.2:105924265G>A,c.494C>T,p.S165L |
| TGFBRAP1(NM_004257,transforming growth factor, beta receptor associated protein 1,860aa) | g.2:105915073C>T,c.778G>A,p.V260I |
| TGFBRAP1(NM_004257,transforming growth factor, beta receptor associated protein 1,860aa) | g.2:105912949G>C,c.902C>G,p.T301R |
| TGFBRAP1(NM_004257,transforming growth factor, beta receptor associated protein 1,860aa) | g.2:105892118G>A,c.1564C>T,p.R522C |
| TGFBRAP1(NM_004257,transforming growth factor, beta receptor associated protein 1,860aa) | g.2:105886046C>T,c.2089G>A,p.E697K |
| TGFBRAP1(NM_004257,transforming growth factor, beta receptor associated protein 1,860aa) | g.2:105885961T>C,c.2174A>G,p.H725R |