| 基因名 | 突变 |
|---|---|
| TULP4(NM_020245,tubby like protein 4,1543aa) | g.6:158900984A>G,c.1228A>G,p.T410A |
| TULP4(NM_020245,tubby like protein 4,1543aa) | g.6:158900939G>A,c.1183G>A,p.V395I |
| TULP4(NM_020245,tubby like protein 4,1543aa) | g.6:158900925G>A,c.1169G>A,p.R390H |
| TULP4(NM_020245,tubby like protein 4,1543aa) | g.6:158735298G>A,c.250G>A,p.E84K |
| TULP3(NM_003324,tubby like protein 3,442aa) | g.12:3047395G>A,c.1139G>A,p.R380H |
| TULP3(NM_003324,tubby like protein 3,442aa) | g.12:3047365G>C,c.1109G>C,p.S370T |
| TULP3(NM_003324,tubby like protein 3,442aa) | g.12:3046882A>G,c.1010A>G,p.Y337C |
| TULP3(NM_003324,tubby like protein 3,442aa) | g.12:3040354G>A,c.644G>A,p.R215Q |
| TULP3(NM_003324,tubby like protein 3,442aa) | g.12:3040251C>T,c.541C>T,p.L181F |
| TULP3(NM_003324,tubby like protein 3,442aa) | g.12:3039512G>A,c.492+1G>A,p.164Donor |
| TULP2(NM_003323,tubby like protein 2,520aa) | g.19:49400634C>T,c.52G>A,p.A18T |
| TULP2(NM_003323,tubby like protein 2,520aa) | g.19:49398405C>T,c.364G>A,p.G122S |
| TULP2(NM_003323,tubby like protein 2,520aa) | g.19:49392882C>T,c.521G>A,p.R174H |
| TULP2(NM_003323,tubby like protein 2,520aa) | g.19:49392867C>G,c.536G>C,p.S179T |
| TULP2(NM_003323,tubby like protein 2,520aa) | g.19:49391404C>T,c.751G>A,p.D251N |
| TULP2(NM_003323,tubby like protein 2,520aa) | g.19:49391326G>T,c.829C>A,p.L277M |
| TULP2(NM_003323,tubby like protein 2,520aa) | g.19:49391323G>A,c.832C>T,p.R278W |
| TULP2(NM_003323,tubby like protein 2,520aa) | g.19:49388798C>T,c.968G>A,p.R323Q |
| TULP2(NM_003323,tubby like protein 2,520aa) | g.19:49388736G>A,c.1030C>T,p.R344W |
| TULP2(NM_003323,tubby like protein 2,520aa) | g.19:49387248G>A,c.1117C>T,p.R373W |
| TULP2(NM_003323,tubby like protein 2,520aa) | g.19:49385293T>A,c.1443A>T,p.K481N |
| TULP2(NM_003323,tubby like protein 2,520aa) | g.19:49384272T>C,c.1559A>G,p.N520S |
| TULP1(NM_003322,tubby like protein 1,542aa) | g.6:35479574G>C,c.200C>G,p.T67R |
| TULP1(NM_003322,tubby like protein 1,542aa) | g.6:35477032A>G,c.776T>C,p.I259T |
| TULP1(NM_003322,tubby like protein 1,542aa) | g.6:35477025C>G,c.783G>C,p.K261N |
| TULP1(NM_003322,tubby like protein 1,542aa) | g.6:35477011C>A,c.797G>T,p.G266V |
| TULP1(NM_003322,tubby like protein 1,542aa) | g.6:35473878G>C,c.901C>G,p.Q301E |
| TULP1(NM_003322,tubby like protein 1,542aa) | g.6:35473878del,c.901del,p.301fs |