| 基因名 | 突变 |
|---|---|
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48318400T>G,c.7609T>G,p.S2537A |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48318242G>A,c.7451G>A,p.R2484K |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48318140T>G,c.7349T>G,p.L2450R |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48318098A>G,c.7307A>G,p.K2436R |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48317939T>G,c.7148T>G,p.I2383R |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48317836G>A,c.7045G>A,p.G2349R |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48317774del,c.6983del,p.2328fs |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48317708A>C,c.6917A>C,p.K2306T |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48315930G>C,c.6667G>C,p.A2223P |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48315898T>C,c.6635T>C,p.L2212S |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48315825C>T,c.6562C>T,p.H2188Y |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48315796C>A,c.6533C>A,p.A2178E |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48315724C>T,c.6461C>T,p.S2154L |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48315360A>G,c.6097A>G,p.N2033D |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48315109A>G,c.5846A>G,p.K1949R |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48314929T>A,c.5666T>A,p.I1889K |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48314896C>T,c.5633C>T,p.S1878F |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48314760C>T,c.5497C>T,p.R1833W |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48314637G>A,c.5374G>A,p.A1792T |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48314528G>T,c.5265G>T,p.R1755S |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48314389T>C,c.5126T>C,p.L1709P |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48314151C>G,c.4888C>G,p.L1630V |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48313881T>C,c.4618T>C,p.F1540L |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48313843T>C,c.4580T>C,p.L1527P |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48313804C>T,c.4541C>T,p.A1514V |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48313563A>G,c.4300A>G,p.I1434V |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48313510A>G,c.4247A>G,p.H1416R |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48313341G>A,c.4078G>A,p.D1360N |