| 基因名 | 突变 |
|---|---|
| KAT6A(NM_001099412,K(lysine) acetyltransferase 6A,2004aa) | g.8:41791521A>G,c.4217T>C,p.L1406S |
| KAT6A(NM_001099412,K(lysine) acetyltransferase 6A,2004aa) | g.8:41791414C>T,c.4324G>A,p.A1442T |
| KAT6A(NM_001099412,K(lysine) acetyltransferase 6A,2004aa) | g.8:41791344T>C,c.4394A>G,p.D1465G |
| KAT6A(NM_001099412,K(lysine) acetyltransferase 6A,2004aa) | g.8:41791254C>T,c.4484G>A,p.R1495H |
| KAT6A(NM_001099412,K(lysine) acetyltransferase 6A,2004aa) | g.8:41790969C>A,c.4769G>T,p.G1590V |
| KAT6A(NM_001099412,K(lysine) acetyltransferase 6A,2004aa) | g.8:41790786G>A,c.4952C>T,p.P1651L |
| KAT6A(NM_001099412,K(lysine) acetyltransferase 6A,2004aa) | g.8:41790343G>C,c.5395C>G,p.P1799A |
| KAT5(NM_182710,K(lysine) acetyltransferase 5,546aa) | g.11:65480855A>G,c.421A>G,p.I141V |
| KAT5(NM_182710,K(lysine) acetyltransferase 5,546aa) | g.11:65479817G>A,c.79G>A,p.V27I |
| KAT2B(NM_003884,K(lysine) acetyltransferase 2B,832aa) | g.3:20189472C>A,c.2137C>A,p.P713T |
| KAT2B(NM_003884,K(lysine) acetyltransferase 2B,832aa) | g.3:20181809C>T,c.1957C>T,p.R653W |
| KAT2B(NM_003884,K(lysine) acetyltransferase 2B,832aa) | g.3:20167605C>T,c.1622C>T,p.P541L |
| KAT2B(NM_003884,K(lysine) acetyltransferase 2B,832aa) | g.3:20164268C>T,c.1385C>T,p.T462M |
| KAT2B(NM_003884,K(lysine) acetyltransferase 2B,832aa) | g.3:20164184C>G,c.1301C>G,p.S434C |
| KAT2B(NM_003884,K(lysine) acetyltransferase 2B,832aa) | g.3:20161096A>G,c.1157A>G,p.N386S |
| KAT2B(NM_003884,K(lysine) acetyltransferase 2B,832aa) | g.3:20141369A>G,c.592A>G,p.I198V |
| KAT2B(NM_003884,K(lysine) acetyltransferase 2B,832aa) | g.3:20113883C>G,c.362C>G,p.P121R |
| KAT2B(NM_003884,K(lysine) acetyltransferase 2B,832aa) | g.3:20082154G>A,c.185G>A,p.G62D |
| KAT2A(NM_021078,K(lysine) acetyltransferase 2A,837aa) | g.17:40273315T>G,c.8A>C,p.E3A |
| KAT2A(NM_021078,K(lysine) acetyltransferase 2A,837aa) | g.17:40269517G>A,c.1526C>T,p.T509M |
| KAT2A(NM_021078,K(lysine) acetyltransferase 2A,837aa) | g.17:40266059G>A,c.2279C>T,p.S760L |
| KARS(NM_001130089,lysyl-tRNA synthetase,625aa) | g.16:75678250_75678251insC,c.76_77insG,p.26fs |
| KARS(NM_001130089,lysyl-tRNA synthetase,625aa) | g.16:75675514T>C,c.254A>G,p.N85S |
| KARS(NM_001130089,lysyl-tRNA synthetase,625aa) | g.16:75669878A>G,c.685T>C,p.Y229H |
| KARS(NM_001130089,lysyl-tRNA synthetase,625aa) | g.16:75665388C>T,c.1262G>A,p.R421Q |
| KARS(NM_001130089,lysyl-tRNA synthetase,625aa) | g.16:75661803G>C,c.1868C>G,p.T623S |
| KANSL3(NM_001115016,KAT8 regulatory NSL complex subunit 3,878aa) | g.2:97297173T>C,c.262A>G,p.M88V |
| KANSL3(NM_001115016,KAT8 regulatory NSL complex subunit 3,878aa) | g.2:97275288G>A,c.1331C>T,p.A444V |