| 基因名 | 突变 |
|---|---|
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215839577G>A,c.5393C>T,p.P1798L |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215838687A>G,c.5548T>C,p.S1850P |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215835070C>T,c.5617G>A,p.V1873I |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215823139G>C,c.5979C>G,p.I1993M |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215821412C>T,c.6208G>A,p.V2070I |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215815807C>A,c.6648G>T,p.R2216S |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215815760T>C,c.6695A>G,p.D2232G |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215813807T>C,c.6919A>G,p.I2307V |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215813331C>T,c.7093G>A,p.D2365N |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215809731G>C,c.7337C>G,p.S2446C |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215807699C>G,c.7386G>C,p.M2462I |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215802332G>A,c.7444C>T,p.R2482X |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215798851G>A,c.7631C>T,p.T2544I |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67218018T>G,c.218A>C,p.H73P |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67217967G>A,c.269C>T,p.A90V |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67212423G>A,c.607C>T,p.P203S |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67212390A>G,c.640T>C,p.F214L |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67212031A>T,c.783T>A,p.Y261X |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67210992T>C,c.859A>G,p.I287V |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67210856C>T,c.995G>A,p.R332Q |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67197701T>G,c.1115A>C,p.H372P |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67197683A>C,c.1133T>G,p.F378C |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67190619A>G,c.1252T>C,p.Y418H |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67190540G>A,c.1331C>T,p.S444F |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67190537_67190540del,c.1331_1334del,p.444fs |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67190118_67190119del,c.1357_1358del,p.453fs |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67189302G>A,c.1729C>T,p.R577X |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67188731C>T,c.1844G>A,p.R615Q |