| 基因名 | 突变 |
|---|---|
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48427433C>T,c.11350C>T,p.R3784W |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48412084A>T,c.11123A>T,p.Q3708L |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48411787A>C,c.10826A>C,p.H3609P |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48392054C>T,c.10658C>T,p.A3553V |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48390362G>A,c.10327G>A,p.D3443N |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48390287C>T,c.10252C>T,p.R3418C |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48378052G>A,c.10204G>A,p.G3402R |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48375022A>T,c.10003A>T,p.N3335Y |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48353853A>G,c.9706A>G,p.S3236G |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48352698A>G,c.9551A>G,p.N3184S |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48349647C>T,c.9425C>T,p.A3142V |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48349583T>G,c.9361T>G,p.C3121G |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48337963A>G,c.9200A>G,p.D3067G |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48335451A>G,c.9110A>G,p.H3037R |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48335439C>T,c.9098C>T,p.T3033M |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48335304A>G,c.8963A>G,p.E2988G |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48327663G>T,c.8943G>T,p.Q2981H |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48321010G>A,c.8797G>A,p.V2933M |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48319403A>C,c.8612A>C,p.K2871T |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48319307C>G,c.8516C>G,p.T2839S |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48318968A>G,c.8177A>G,p.Q2726R |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48318811C>T,c.8020C>T,p.R2674W |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48318758C>T,c.7967C>T,p.A2656V |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48318702_48318704del,c.7911_7913del,p.2637_2638del |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48318614T>G,c.7823T>G,p.I2608R |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48318613A>G,c.7822A>G,p.I2608V |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48318533A>C,c.7742A>C,p.H2581P |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48318419A>G,c.7628A>G,p.H2543R |