| 基因名 | 突变 |
|---|---|
| KATNB1(NM_005886,katanin p80 (WD repeat containing) subunit B 1,655aa) | g.16:57788843C>T,c.1230C>T,p.D410D |
| KATNB1(NM_005886,katanin p80 (WD repeat containing) subunit B 1,655aa) | g.16:57787863C>T,c.1184C>T,p.T395M |
| KATNB1(NM_005886,katanin p80 (WD repeat containing) subunit B 1,655aa) | g.16:57787362C>T,c.1108C>T,p.R370C |
| KATNB1(NM_005886,katanin p80 (WD repeat containing) subunit B 1,655aa) | g.16:57787330G>A,c.1076G>A,p.R359H |
| KATNB1(NM_005886,katanin p80 (WD repeat containing) subunit B 1,655aa) | g.16:57786694G>A,c.709G>A,p.V237I |
| KATNB1(NM_005886,katanin p80 (WD repeat containing) subunit B 1,655aa) | g.16:57775607G>A,c.49G>A,p.V17I |
| KATNAL2(NM_031303,katanin p60 subunit A-like 2,466aa) | g.18:44626683G>A,c.1217G>A,p.R406Q |
| KATNAL2(NM_031303,katanin p60 subunit A-like 2,466aa) | g.18:44601701G>C,c.846G>C,p.E282D |
| KATNAL2(NM_031303,katanin p60 subunit A-like 2,466aa) | g.18:44593458T>G,c.577T>G,p.L193V |
| KATNAL2(NM_031303,katanin p60 subunit A-like 2,466aa) | g.18:44585955G>A,c.263G>A,p.S88N |
| KATNAL2(NM_031303,katanin p60 subunit A-like 2,466aa) | g.18:44585946G>A,c.254G>A,p.R85H |
| KATNAL2(NM_031303,katanin p60 subunit A-like 2,466aa) | g.18:44585943C>G,c.251C>G,p.T84S |
| KATNAL2(NM_031303,katanin p60 subunit A-like 2,466aa) | g.18:44584658C>T,c.169C>T,p.R57W |
| KATNAL1(NM_032116,katanin p60 subunit A-like 1,490aa) | g.13:30854289A>C,c.234T>G,p.I78M |
| KATNAL1(NM_032116,katanin p60 subunit A-like 1,490aa) | g.13:30804719C>A,c.898G>T,p.A300S |
| KATNAL1(NM_032116,katanin p60 subunit A-like 1,490aa) | g.13:30801591G>A,c.1105C>T,p.R369X |
| KATNAL1(NM_032116,katanin p60 subunit A-like 1,490aa) | g.13:30784526G>C,c.1201C>G,p.P401A |
| KATNA1(NM_007044,katanin p60 (ATPase containing) subunit A 1,491aa) | g.6:149944283G>A,c.457C>T,p.R153C |
| KAT8(NM_182958,K(lysine) acetyltransferase 8,467aa) | g.16:31142271A>G,c.1362A>G,p.I454M |
| KAT8(NM_182958,K(lysine) acetyltransferase 8,467aa) | g.16:31129108C>G,c.106C>G,p.P36A |
| KAT7(NM_007067,K(lysine) acetyltransferase 7,611aa) | g.17:47888845C>T,c.761C>T,p.T254M |
| KAT7(NM_007067,K(lysine) acetyltransferase 7,611aa) | g.17:47886508A>G,c.691A>G,p.I231V |
| KAT7(NM_007067,K(lysine) acetyltransferase 7,611aa) | g.17:47875777A>G,c.437A>G,p.N146S |
| KAT7(NM_007067,K(lysine) acetyltransferase 7,611aa) | g.17:47869386A>G,c.154A>G,p.S52G |
| KAT6B(NM_012330,K(lysine) acetyltransferase 6B,2073aa) | g.10:76790665_76790666insG,c.6083_6084insG,p.2028fs |
| KAT6B(NM_012330,K(lysine) acetyltransferase 6B,2073aa) | g.10:76790016T>C,c.5434T>C,p.S1812P |
| KAT6B(NM_012330,K(lysine) acetyltransferase 6B,2073aa) | g.10:76789968G>A,c.5386G>A,p.E1796K |
| KAT6B(NM_012330,K(lysine) acetyltransferase 6B,2073aa) | g.10:76789417G>A,c.4835G>A,p.R1612H |