| 基因名 | 突变 |
|---|---|
| KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) | g.12:49433773del,c.7780del,p.2594fs |
| KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) | g.12:49433721C>T,c.7832G>A,p.R2611H |
| KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) | g.12:49432365G>A,c.8774C>T,p.A2925V |
| KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) | g.12:49431640G>A,c.9499C>T,p.R3167W |
| KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) | g.12:49431639C>T,c.9500G>A,p.R3167Q |
| KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) | g.12:49431115G>A,c.10024C>T,p.R3342C |
| KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) | g.12:49431094T>C,c.10045A>G,p.M3349V |
| KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) | g.12:49430947T>C,c.10192A>G,p.M3398V |
| KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) | g.12:49428694T>C,c.10256A>G,p.D3419G |
| KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) | g.12:49428231G>A,c.10469C>T,p.P3490L |
| KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) | g.12:49427495G>C,c.10993C>G,p.P3665A |
| KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) | g.12:49427347C>T,c.11141G>A,p.R3714K |
| KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) | g.12:49427146C>T,c.11342G>A,p.S3781N |
| KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) | g.12:49426460A>G,c.12028T>C,p.S4010P |
| KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) | g.12:49426403C>T,c.12085G>A,p.V4029I |
| KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) | g.12:49426003C>T,c.12485G>A,p.R4162Q |
| KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) | g.12:49425964G>T,c.12524C>A,p.P4175Q |
| KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) | g.12:49425865del,c.12623del,p.4208fs |
| KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) | g.12:49425230G>A,c.13258C>T,p.R4420W |
| KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) | g.12:49425007T>G,c.13481A>C,p.K4494T |
| KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) | g.12:49420078C>T,c.15671G>A,p.R5224H |
| KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) | g.12:49418717C>T,c.15797G>A,p.R5266H |
| KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) | g.7:152055741T>C,c.181A>G,p.T61A |
| KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) | g.7:151970951C>T,c.851G>A,p.R284Q |
| KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) | g.7:151970931G>A,c.871C>T,p.L291F |
| KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) | g.7:151970877G>A,c.925C>T,p.P309S |
| KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) | g.7:151970859C>T,c.943G>A,p.G315S |
| KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) | g.7:151970859C>A,c.943G>T,p.G315C |