| 基因名 | 突变 |
|---|---|
| ABCA6(NM_080284,ATP-binding cassette, sub-family A (ABC1), member 6,1617aa) | g.17:67101718C>T,c.2625G>A,p.M875I |
| ABCA6(NM_080284,ATP-binding cassette, sub-family A (ABC1), member 6,1617aa) | g.17:67101632C>T,c.2711G>A,p.R904H |
| ABCA6(NM_080284,ATP-binding cassette, sub-family A (ABC1), member 6,1617aa) | g.17:67092936C>T,c.3127G>A,p.A1043T |
| ABCA6(NM_080284,ATP-binding cassette, sub-family A (ABC1), member 6,1617aa) | g.17:67092929G>A,c.3134C>T,p.S1045F |
| ABCA6(NM_080284,ATP-binding cassette, sub-family A (ABC1), member 6,1617aa) | g.17:67092427C>T,c.3362G>A,p.R1121H |
| ABCA6(NM_080284,ATP-binding cassette, sub-family A (ABC1), member 6,1617aa) | g.17:67084360A>C,c.3646T>G,p.C1216G |
| ABCA6(NM_080284,ATP-binding cassette, sub-family A (ABC1), member 6,1617aa) | g.17:67083603T>C,c.3710A>G,p.Q1237R |
| ABCA6(NM_080284,ATP-binding cassette, sub-family A (ABC1), member 6,1617aa) | g.17:67081830T>C,c.3965A>G,p.N1322S |
| ABCA6(NM_080284,ATP-binding cassette, sub-family A (ABC1), member 6,1617aa) | g.17:67081278A>G,c.4075T>C,p.C1359R |
| ABCA6(NM_080284,ATP-binding cassette, sub-family A (ABC1), member 6,1617aa) | g.17:67081218C>T,c.4135G>A,p.A1379T |
| ABCA6(NM_080284,ATP-binding cassette, sub-family A (ABC1), member 6,1617aa) | g.17:67079441C>G,c.4387G>C,p.E1463Q |
| ABCA6(NM_080284,ATP-binding cassette, sub-family A (ABC1), member 6,1617aa) | g.17:67079395G>T,c.4433C>A,p.A1478D |
| ABCA6(NM_080284,ATP-binding cassette, sub-family A (ABC1), member 6,1617aa) | g.17:67075401G>T,c.4702C>A,p.H1568N |
| ABCA5(NM_018672,ATP-binding cassette, sub-family A (ABC1), member 5,1642aa) | g.17:67310516G>A,c.41C>T,p.T14I |
| ABCA5(NM_018672,ATP-binding cassette, sub-family A (ABC1), member 5,1642aa) | g.17:67309411T>A,c.129A>T,p.L43F |
| ABCA5(NM_018672,ATP-binding cassette, sub-family A (ABC1), member 5,1642aa) | g.17:67305547A>C,c.325T>G,p.Y109D |
| ABCA5(NM_018672,ATP-binding cassette, sub-family A (ABC1), member 5,1642aa) | g.17:67305519G>A,c.353C>T,p.S118F |
| ABCA5(NM_018672,ATP-binding cassette, sub-family A (ABC1), member 5,1642aa) | g.17:67304503C>T,c.476G>A,p.C159Y |
| ABCA5(NM_018672,ATP-binding cassette, sub-family A (ABC1), member 5,1642aa) | g.17:67304447C>T,c.532G>A,p.A178T |
| ABCA5(NM_018672,ATP-binding cassette, sub-family A (ABC1), member 5,1642aa) | g.17:67303010G>T,c.644C>A,p.T215N |
| ABCA5(NM_018672,ATP-binding cassette, sub-family A (ABC1), member 5,1642aa) | g.17:67302921C>T,c.733G>A,p.E245K |
| ABCA5(NM_018672,ATP-binding cassette, sub-family A (ABC1), member 5,1642aa) | g.17:67302867A>G,c.787T>C,p.W263R |
| ABCA5(NM_018672,ATP-binding cassette, sub-family A (ABC1), member 5,1642aa) | g.17:67299017A>G,c.961T>C,p.F321L |
| ABCA5(NM_018672,ATP-binding cassette, sub-family A (ABC1), member 5,1642aa) | g.17:67290840T>C,c.1451A>G,p.Q484R |
| ABCA5(NM_018672,ATP-binding cassette, sub-family A (ABC1), member 5,1642aa) | g.17:67286163T>C,c.1622A>G,p.Y541C |
| ABCA5(NM_018672,ATP-binding cassette, sub-family A (ABC1), member 5,1642aa) | g.17:67283844G>A,c.1951C>T,p.H651Y |
| ABCA5(NM_018672,ATP-binding cassette, sub-family A (ABC1), member 5,1642aa) | g.17:67282371T>C,c.2123A>G,p.Y708C |
| ABCA5(NM_018672,ATP-binding cassette, sub-family A (ABC1), member 5,1642aa) | g.17:67282164T>G,c.2147A>C,p.K716T |