| 基因名 | 突变 |
|---|---|
| ABCA9(NM_080283,ATP-binding cassette, sub-family A (ABC1), member 9,1624aa) | g.17:67045452G>T,c.276C>A,p.N92K |
| ABCA9(NM_080283,ATP-binding cassette, sub-family A (ABC1), member 9,1624aa) | g.17:67039819G>T,c.611C>A,p.S204X |
| ABCA9(NM_080283,ATP-binding cassette, sub-family A (ABC1), member 9,1624aa) | g.17:67039672G>A,c.758C>T,p.T253M |
| ABCA9(NM_080283,ATP-binding cassette, sub-family A (ABC1), member 9,1624aa) | g.17:67039645C>T,c.785G>A,p.R262Q |
| ABCA9(NM_080283,ATP-binding cassette, sub-family A (ABC1), member 9,1624aa) | g.17:67031537C>A,c.978G>T,p.K326N |
| ABCA9(NM_080283,ATP-binding cassette, sub-family A (ABC1), member 9,1624aa) | g.17:67031457C>T,c.1058G>A,p.R353H |
| ABCA9(NM_080283,ATP-binding cassette, sub-family A (ABC1), member 9,1624aa) | g.17:67029998T>C,c.1145A>G,p.Y382C |
| ABCA9(NM_080283,ATP-binding cassette, sub-family A (ABC1), member 9,1624aa) | g.17:67025343C>T,c.1471G>A,p.A491T |
| ABCA9(NM_080283,ATP-binding cassette, sub-family A (ABC1), member 9,1624aa) | g.17:67020475A>G,c.2161T>C,p.C721R |
| ABCA9(NM_080283,ATP-binding cassette, sub-family A (ABC1), member 9,1624aa) | g.17:67017930T>C,c.2354A>G,p.N785S |
| ABCA9(NM_080283,ATP-binding cassette, sub-family A (ABC1), member 9,1624aa) | g.17:67014674G>C,c.2647C>G,p.L883V |
| ABCA9(NM_080283,ATP-binding cassette, sub-family A (ABC1), member 9,1624aa) | g.17:67013907G>A,c.2791C>T,p.H931Y |
| ABCA9(NM_080283,ATP-binding cassette, sub-family A (ABC1), member 9,1624aa) | g.17:67012450G>A,c.2983C>T,p.L995F |
| ABCA9(NM_080283,ATP-binding cassette, sub-family A (ABC1), member 9,1624aa) | g.17:67012434G>A,c.2999C>T,p.S1000L |
| ABCA9(NM_080283,ATP-binding cassette, sub-family A (ABC1), member 9,1624aa) | g.17:67004283T>A,c.3241A>T,p.I1081F |
| ABCA9(NM_080283,ATP-binding cassette, sub-family A (ABC1), member 9,1624aa) | g.17:66992082A>G,c.3509T>C,p.L1170S |
| ABCA9(NM_080283,ATP-binding cassette, sub-family A (ABC1), member 9,1624aa) | g.17:66989195C>T,c.3586G>A,p.A1196T |
| ABCA9(NM_080283,ATP-binding cassette, sub-family A (ABC1), member 9,1624aa) | g.17:66986056C>T,c.3853G>A,p.A1285T |
| ABCA9(NM_080283,ATP-binding cassette, sub-family A (ABC1), member 9,1624aa) | g.17:66985992T>G,c.3917A>C,p.K1306T |
| ABCA9(NM_080283,ATP-binding cassette, sub-family A (ABC1), member 9,1624aa) | g.17:66982447C>T,c.4066G>A,p.G1356S |
| ABCA9(NM_080283,ATP-binding cassette, sub-family A (ABC1), member 9,1624aa) | g.17:66981048G>T,c.4357C>A,p.P1453T |
| ABCA9(NM_080283,ATP-binding cassette, sub-family A (ABC1), member 9,1624aa) | g.17:66979874A>G,c.4616T>C,p.F1539S |
| ABCA8(NM_007168,ATP-binding cassette, sub-family A (ABC1), member 8,1581aa) | g.17:66938141G>C,c.35C>G,p.T12S |
| ABCA8(NM_007168,ATP-binding cassette, sub-family A (ABC1), member 8,1581aa) | g.17:66937030G>T,c.170C>A,p.S57Y |
| ABCA8(NM_007168,ATP-binding cassette, sub-family A (ABC1), member 8,1581aa) | g.17:66937004G>A,c.196C>T,p.R66W |
| ABCA8(NM_007168,ATP-binding cassette, sub-family A (ABC1), member 8,1581aa) | g.17:66933175G>A,c.383C>T,p.T128I |
| ABCA8(NM_007168,ATP-binding cassette, sub-family A (ABC1), member 8,1581aa) | g.17:66928468G>C,c.758C>G,p.A253G |
| ABCA8(NM_007168,ATP-binding cassette, sub-family A (ABC1), member 8,1581aa) | g.17:66928460T>C,c.766A>G,p.T256A |