| 基因名 | 突变 |
|---|---|
| NOTO(NM_001134462,notochord homeobox,251aa) | g.2:73435683A>G,c.538A>G,p.N180D |
| NOTO(NM_001134462,notochord homeobox,251aa) | g.2:73435637C>G,c.492C>G,p.N164K |
| NOTO(NM_001134462,notochord homeobox,251aa) | g.2:73429876C>G,c.82C>G,p.P28A |
| NOTO(NM_001134462,notochord homeobox,251aa) | g.2:73429808G>C,c.14G>C,p.R5T |
| NOTCH4(NM_004557,notch 4,2003aa) | g.6:32191659_32191670del,c.36_47del,p.12_16del |
| NOTCH4(NM_004557,notch 4,2003aa) | g.6:32190550C>G,c.189G>C,p.Q63H |
| NOTCH4(NM_004557,notch 4,2003aa) | g.6:32190512del,c.227del,p.76fs |
| NOTCH4(NM_004557,notch 4,2003aa) | g.6:32190423G>T,c.316C>A,p.L106I |
| NOTCH4(NM_004557,notch 4,2003aa) | g.6:32190406A>G,c.333T>C,p.G111G |
| NOTCH4(NM_004557,notch 4,2003aa) | g.6:32190390T>G,c.349A>C,p.K117Q |
| NOTCH4(NM_004557,notch 4,2003aa) | g.6:32188943G>A,c.611C>T,p.P204L |
| NOTCH4(NM_004557,notch 4,2003aa) | g.6:32188853C>T,c.701G>A,p.R234Q |
| NOTCH4(NM_004557,notch 4,2003aa) | g.6:32188823G>A,c.731C>T,p.S244L |
| NOTCH4(NM_004557,notch 4,2003aa) | g.6:32188640T>C,c.815A>G,p.D272G |
| NOTCH4(NM_004557,notch 4,2003aa) | g.6:32188383T>C,c.958A>G,p.T320A |
| NOTCH4(NM_004557,notch 4,2003aa) | g.6:32188224G>A,c.1117C>T,p.R373W |
| NOTCH4(NM_004557,notch 4,2003aa) | g.6:32187906C>G,c.1315G>C,p.A439P |
| NOTCH4(NM_004557,notch 4,2003aa) | g.6:32185796C>T,c.1600G>A,p.G534S |
| NOTCH4(NM_004557,notch 4,2003aa) | g.6:32184835C>T,c.1748G>A,p.G583E |
| NOTCH4(NM_004557,notch 4,2003aa) | g.6:32184830G>A,c.1753C>T,p.R585C |
| NOTCH4(NM_004557,notch 4,2003aa) | g.6:32184785C>T,c.1798G>A,p.V600I |
| NOTCH4(NM_004557,notch 4,2003aa) | g.6:32184785C>G,c.1798G>C,p.V600L |
| NOTCH4(NM_004557,notch 4,2003aa) | g.6:32180684A>C,c.2443T>G,p.C815G |
| NOTCH4(NM_004557,notch 4,2003aa) | g.6:32180623C>A,c.2504G>T,p.G835V |
| NOTCH4(NM_004557,notch 4,2003aa) | g.6:32178638G>A,c.2756C>T,p.P919L |
| NOTCH4(NM_004557,notch 4,2003aa) | g.6:32178583C>A,c.2811G>T,p.R937S |
| NOTCH4(NM_004557,notch 4,2003aa) | g.6:32178570C>T,c.2824G>A,p.G942R |
| NOTCH4(NM_004557,notch 4,2003aa) | g.6:32170264G>T,c.3344C>A,p.A1115D |