| 基因名 | 突变 |
|---|---|
| TEKT1(NM_053285,tektin 1,418aa) | g.17:6704241G>T,c.874C>A,p.Q292K |
| TEKT1(NM_053285,tektin 1,418aa) | g.17:6704182C>A,c.933G>T,p.K311N |
| TEKT1(NM_053285,tektin 1,418aa) | g.17:6704171G>A,c.944C>T,p.T315M |
| TEKT1(NM_053285,tektin 1,418aa) | g.17:6704121C>T,c.994G>A,p.V332I |
| TEKT1(NM_053285,tektin 1,418aa) | g.17:6703404C>T,c.1199G>A,p.R400Q |
| TEKT1(NM_053285,tektin 1,418aa) | g.17:6703384C>G,c.1219G>C,p.V407L |
| TEK(NM_000459,TEK tyrosine kinase, endothelial,1124aa) | g.9:27212791G>A,c.2773G>A,p.A925T |
| TEK(NM_000459,TEK tyrosine kinase, endothelial,1124aa) | g.9:27205003C>G,c.2304C>G,p.I768M |
| TEK(NM_000459,TEK tyrosine kinase, endothelial,1124aa) | g.9:27204927G>C,c.2228G>C,p.G743A |
| TEK(NM_000459,TEK tyrosine kinase, endothelial,1124aa) | g.9:27203078G>A,c.2170G>A,p.A724T |
| TEK(NM_000459,TEK tyrosine kinase, endothelial,1124aa) | g.9:27197486G>T,c.1798G>T,p.V600L |
| TEK(NM_000459,TEK tyrosine kinase, endothelial,1124aa) | g.9:27192618A>G,c.1621A>G,p.I541V |
| TEK(NM_000459,TEK tyrosine kinase, endothelial,1124aa) | g.9:27192562G>T,c.1565G>T,p.R522L |
| TEK(NM_000459,TEK tyrosine kinase, endothelial,1124aa) | g.9:27190655G>A,c.1456G>A,p.V486I |
| TEK(NM_000459,TEK tyrosine kinase, endothelial,1124aa) | g.9:27183463A>C,c.1037A>C,p.Q346P |
| TEK(NM_000459,TEK tyrosine kinase, endothelial,1124aa) | g.9:27168571T>C,c.443T>C,p.I148T |
| TEK(NM_000459,TEK tyrosine kinase, endothelial,1124aa) | g.9:27168517C>G,c.389C>G,p.T130S |
| TEK(NM_000459,TEK tyrosine kinase, endothelial,1124aa) | g.9:27157988C>T,c.212C>T,p.P71L |
| TEFM(NM_024683,transcription elongation factor, mitochondrial,360aa) | g.17:29231335T>C,c.244A>G,p.T82A |
| TEFM(NM_024683,transcription elongation factor, mitochondrial,360aa) | g.17:29227487T>C,c.589A>G,p.S197G |
| TEFM(NM_024683,transcription elongation factor, mitochondrial,360aa) | g.17:29226507C>T,c.763G>A,p.A255T |
| TEFM(NM_024683,transcription elongation factor, mitochondrial,360aa) | g.17:29226348T>A,c.922A>T,p.I308L |
| TEFM(NM_024683,transcription elongation factor, mitochondrial,360aa) | g.17:29226228T>C,c.1042A>G,p.I348V |
| TEDDM1(NM_172000,transmembrane epididymal protein 1,273aa) | g.1:182369488C>T,c.133G>A,p.V45I |
| TEDDM1(NM_172000,transmembrane epididymal protein 1,273aa) | g.1:182369233A>G,c.388T>C,p.Y130H |
| TEDDM1(NM_172000,transmembrane epididymal protein 1,273aa) | g.1:182369105C>T,c.516G>A,p.M172I |
| TEDDM1(NM_172000,transmembrane epididymal protein 1,273aa) | g.1:182368900A>G,c.721T>C,p.Y241H |
| TECTB(NM_058222,tectorin beta,329aa) | g.10:114059269G>A,c.854G>A,p.R285H |