| 基因名 | 突变 |
|---|---|
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48313256A>G,c.3993A>G,p.I1331M |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48313155A>G,c.3892A>G,p.I1298V |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48313084A>G,c.3821A>G,p.E1274G |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48312723T>G,c.3460T>G,p.W1154G |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48312591G>A,c.3328G>A,p.V1110I |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48312490G>A,c.3227G>A,p.R1076H |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48312432G>T,c.3169G>T,p.V1057L |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48312292C>A,c.3029C>A,p.A1010E |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48312276C>T,c.3013C>T,p.Q1005X |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48312200G>C,c.2937G>C,p.Q979H |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48312084G>C,c.2821G>C,p.V941L |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48312027G>A,c.2764G>A,p.A922T |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48311803G>T,c.2540G>T,p.R847I |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48311658G>A,c.2395G>A,p.E799K |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48311602G>A,c.2339G>A,p.S780N |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48311563T>G,c.2300T>G,p.I767S |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48311533T>G,c.2270T>G,p.F757C |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48311485A>C,c.2222A>C,p.E741A |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48288885A>G,c.1942A>G,p.R648G |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48287840G>A,c.1664G>A,p.R555H |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48285485C>T,c.1517C>T,p.P506L |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48284184T>A,c.1274T>A,p.L425Q |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48280593A>C,c.1192A>C,p.T398P |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48278867G>T,c.927G>T,p.M309I |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48266869A>G,c.479A>G,p.N160S |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48237951A>G,c.281A>G,p.H94R |
| ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) | g.7:48237848C>T,c.178C>T,p.R60X |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215976382A>G,c.101T>C,p.V34A |