| 基因名 | 突变 |
|---|---|
| HTT(NM_002111,huntingtin,3142aa) | g.4:3227436G>A,c.7814G>A,p.R2605Q |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3221998A>T,c.7332A>T,p.E2444D |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3215835T>C,c.6925T>C,p.Y2309H |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3208575C>G,c.5940C>G,p.I1980M |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3205773G>C,c.5616G>C,p.Q1872H |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3201551C>T,c.5461C>T,p.R1821W |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3189547C>A,c.5159C>A,p.T1720N |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3189510T>C,c.5122T>C,p.C1708R |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3189379C>T,c.4991C>T,p.A1664V |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3174845A>C,c.4153A>C,p.N1385H |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3162034C>T,c.3779C>T,p.T1260M |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3158915G>A,c.3742G>A,p.A1248T |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3149780C>G,c.3344C>G,p.A1115G |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3148653T>G,c.3273T>G,p.I1091M |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3148624G>C,c.3244G>C,p.D1082H |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3148570G>A,c.3190G>A,p.V1064I |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3137674G>A,c.2677G>A,p.G893R |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3134559C>T,c.2414C>T,p.A805V |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3133113G>A,c.2087G>A,p.G696E |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3132038A>G,c.1874A>G,p.Q625R |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3129240G>A,c.1652G>A,p.G551E |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3129063A>G,c.1475A>G,p.H492R |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3129023G>C,c.1435G>C,p.A479P |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3123157T>C,c.1271T>C,p.I424T |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3123108A>C,c.1222A>C,p.K408Q |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3109095C>T,c.692C>T,p.A231V |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3076761C>A,c.209C>A,p.P70Q |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3076665A>C,c.113A>C,p.Q38P |