| 基因名 | 突变 |
|---|---|
| KAT6B(NM_012330,K(lysine) acetyltransferase 6B,2073aa) | g.10:76789416C>T,c.4834C>T,p.R1612C |
| KAT6B(NM_012330,K(lysine) acetyltransferase 6B,2073aa) | g.10:76789077G>A,c.4495G>A,p.V1499I |
| KAT6B(NM_012330,K(lysine) acetyltransferase 6B,2073aa) | g.10:76788574C>G,c.3992C>G,p.A1331G |
| KAT6B(NM_012330,K(lysine) acetyltransferase 6B,2073aa) | g.10:76788544A>C,c.3962A>C,p.Q1321P |
| KAT6B(NM_012330,K(lysine) acetyltransferase 6B,2073aa) | g.10:76788539G>T,c.3957G>T,p.L1319F |
| KAT6B(NM_012330,K(lysine) acetyltransferase 6B,2073aa) | g.10:76788513G>T,c.3931G>T,p.V1311F |
| KAT6B(NM_012330,K(lysine) acetyltransferase 6B,2073aa) | g.10:76788267A>G,c.3685A>G,p.S1229G |
| KAT6B(NM_012330,K(lysine) acetyltransferase 6B,2073aa) | g.10:76784747G>A,c.3404G>A,p.R1135H |
| KAT6B(NM_012330,K(lysine) acetyltransferase 6B,2073aa) | g.10:76781906_76781908del,c.3289_3291del,p.1097del |
| KAT6B(NM_012330,K(lysine) acetyltransferase 6B,2073aa) | g.10:76781852_76781863del,c.3235_3246del,p.1079_1082del |
| KAT6B(NM_012330,K(lysine) acetyltransferase 6B,2073aa) | g.10:76781646G>A,c.3029G>A,p.R1010Q |
| KAT6B(NM_012330,K(lysine) acetyltransferase 6B,2073aa) | g.10:76735758G>A,c.1663G>A,p.G555R |
| KAT6B(NM_012330,K(lysine) acetyltransferase 6B,2073aa) | g.10:76732361T>C,c.1025T>C,p.I342T |
| KAT6A(NM_001099412,K(lysine) acetyltransferase 6A,2004aa) | g.8:41906389A>G,c.107T>C,p.V36A |
| KAT6A(NM_001099412,K(lysine) acetyltransferase 6A,2004aa) | g.8:41906095A>G,c.401T>C,p.L134S |
| KAT6A(NM_001099412,K(lysine) acetyltransferase 6A,2004aa) | g.8:41836253C>T,c.950G>A,p.R317Q |
| KAT6A(NM_001099412,K(lysine) acetyltransferase 6A,2004aa) | g.8:41834751C>A,c.1138G>T,p.E380X |
| KAT6A(NM_001099412,K(lysine) acetyltransferase 6A,2004aa) | g.8:41834750T>G,c.1139A>C,p.E380A |
| KAT6A(NM_001099412,K(lysine) acetyltransferase 6A,2004aa) | g.8:41834704A>C,c.1185T>G,p.D395E |
| KAT6A(NM_001099412,K(lysine) acetyltransferase 6A,2004aa) | g.8:41832259A>T,c.1445T>A,p.M482K |
| KAT6A(NM_001099412,K(lysine) acetyltransferase 6A,2004aa) | g.8:41798866G>A,c.2533C>T,p.R845C |
| KAT6A(NM_001099412,K(lysine) acetyltransferase 6A,2004aa) | g.8:41798488G>A,c.2911C>T,p.R971C |
| KAT6A(NM_001099412,K(lysine) acetyltransferase 6A,2004aa) | g.8:41798413T>C,c.2986A>G,p.S996G |
| KAT6A(NM_001099412,K(lysine) acetyltransferase 6A,2004aa) | g.8:41794870G>A,c.3256C>T,p.R1086C |
| KAT6A(NM_001099412,K(lysine) acetyltransferase 6A,2004aa) | g.8:41794797_41794799del,c.3327_3329del,p.1109_1110del |
| KAT6A(NM_001099412,K(lysine) acetyltransferase 6A,2004aa) | g.8:41792308T>C,c.3430A>G,p.T1144A |
| KAT6A(NM_001099412,K(lysine) acetyltransferase 6A,2004aa) | g.8:41791974G>C,c.3764C>G,p.A1255G |
| KAT6A(NM_001099412,K(lysine) acetyltransferase 6A,2004aa) | g.8:41791801C>T,c.3937G>A,p.D1313N |