| 基因名 | 突变 |
|---|---|
| RHBDF1(NM_022450,rhomboid 5 homolog 1 (Drosophila),855aa) | g.16:114973C>T,c.41G>A,p.R14H |
| RHBDF1(NM_022450,rhomboid 5 homolog 1 (Drosophila),855aa) | g.16:113177T>C,c.466A>G,p.I156V |
| RHBDF1(NM_022450,rhomboid 5 homolog 1 (Drosophila),855aa) | g.16:113042G>A,c.601C>T,p.R201W |
| RHBDF1(NM_022450,rhomboid 5 homolog 1 (Drosophila),855aa) | g.16:113035G>A,c.608C>T,p.P203L |
| RHBDF1(NM_022450,rhomboid 5 homolog 1 (Drosophila),855aa) | g.16:112775G>A,c.793C>T,p.R265W |
| RHBDF1(NM_022450,rhomboid 5 homolog 1 (Drosophila),855aa) | g.16:112659G>A,c.830C>T,p.P277L |
| RHBDF1(NM_022450,rhomboid 5 homolog 1 (Drosophila),855aa) | g.16:112593G>A,c.896C>T,p.A299V |
| RHBDF1(NM_022450,rhomboid 5 homolog 1 (Drosophila),855aa) | g.16:112567G>A,c.922C>T,p.R308C |
| RHBDF1(NM_022450,rhomboid 5 homolog 1 (Drosophila),855aa) | g.16:109278G>A,c.1963C>T,p.R655C |
| RHBDF1(NM_022450,rhomboid 5 homolog 1 (Drosophila),855aa) | g.16:109103T>C,c.2017A>G,p.I673V |
| RHBDF1(NM_022450,rhomboid 5 homolog 1 (Drosophila),855aa) | g.16:108641G>T,c.2266C>A,p.L756I |
| RHBDD3(NM_012265,rhomboid domain containing 3,386aa) | g.22:29661484C>A,c.132G>T,p.L44F |
| RHBDD3(NM_012265,rhomboid domain containing 3,386aa) | g.22:29660007C>T,c.349G>A,p.G117S |
| RHBDD3(NM_012265,rhomboid domain containing 3,386aa) | g.22:29659910G>A,c.446C>T,p.P149L |
| RHBDD3(NM_012265,rhomboid domain containing 3,386aa) | g.22:29656812G>A,c.574C>T,p.R192W |
| RHBDD3(NM_012265,rhomboid domain containing 3,386aa) | g.22:29656706T>C,c.680A>G,p.H227R |
| RHBDD3(NM_012265,rhomboid domain containing 3,386aa) | g.22:29656697C>A,c.689G>T,p.G230V |
| RHBDD3(NM_012265,rhomboid domain containing 3,386aa) | g.22:29656431C>T,c.867G>A,p.W289X |
| RHBDD3(NM_012265,rhomboid domain containing 3,386aa) | g.22:29656194G>A,c.1016C>T,p.T339M |
| RHBDD3(NM_012265,rhomboid domain containing 3,386aa) | g.22:29656158C>A,c.1052G>T,p.R351L |
| RHBDD2(NM_001040457,rhomboid domain containing 2,223aa) | g.7:75517489T>C,c.494T>C,p.V165A |
| RHBDD2(NM_001040457,rhomboid domain containing 2,223aa) | g.7:75517318C>T,c.323C>T,p.P108L |
| RHBDD1(NM_001167608,rhomboid domain containing 1,315aa) | g.2:227779064C>T,c.853C>T,p.R285X |
| RHBDD1(NM_001167608,rhomboid domain containing 1,315aa) | g.2:227778999C>T,c.788C>T,p.T263M |
| RHBDD1(NM_001167608,rhomboid domain containing 1,315aa) | g.2:227731962T>C,c.494T>C,p.I165T |
| RHBDD1(NM_001167608,rhomboid domain containing 1,315aa) | g.2:227729737G>A,c.328G>A,p.A110T |
| RHBDD1(NM_001167608,rhomboid domain containing 1,315aa) | g.2:227729537T>C,c.128T>C,p.L43S |
| RHBDD1(NM_001167608,rhomboid domain containing 1,315aa) | g.2:227729509A>G,c.100A>G,p.T34A |