| 基因名 | 突变 |
|---|---|
| ABCD4(NM_005050,ATP-binding cassette, sub-family D (ALD), member 4,606aa) | g.14:74764675G>A,c.383C>T,p.A128V |
| ABCD4(NM_005050,ATP-binding cassette, sub-family D (ALD), member 4,606aa) | g.14:74763123C>T,c.455G>A,p.R152Q |
| ABCD4(NM_005050,ATP-binding cassette, sub-family D (ALD), member 4,606aa) | g.14:74763115G>A,c.463C>T,p.R155W |
| ABCD4(NM_005050,ATP-binding cassette, sub-family D (ALD), member 4,606aa) | g.14:74763064C>T,c.514G>A,p.V172I |
| ABCD4(NM_005050,ATP-binding cassette, sub-family D (ALD), member 4,606aa) | g.14:74762660T>C,c.565A>G,p.S189G |
| ABCD4(NM_005050,ATP-binding cassette, sub-family D (ALD), member 4,606aa) | g.14:74759920G>A,c.751C>T,p.R251C |
| ABCD4(NM_005050,ATP-binding cassette, sub-family D (ALD), member 4,606aa) | g.14:74759477C>T,c.910G>A,p.A304T |
| ABCD4(NM_005050,ATP-binding cassette, sub-family D (ALD), member 4,606aa) | g.14:74759284G>A,c.998C>T,p.T333M |
| ABCD4(NM_005050,ATP-binding cassette, sub-family D (ALD), member 4,606aa) | g.14:74759066G>A,c.1042C>T,p.R348W |
| ABCD4(NM_005050,ATP-binding cassette, sub-family D (ALD), member 4,606aa) | g.14:74759065C>T,c.1043G>A,p.R348Q |
| ABCD4(NM_005050,ATP-binding cassette, sub-family D (ALD), member 4,606aa) | g.14:74759059G>C,c.1049C>G,p.T350R |
| ABCD4(NM_005050,ATP-binding cassette, sub-family D (ALD), member 4,606aa) | g.14:74759006C>T,c.1102G>A,p.E368K |
| ABCD4(NM_005050,ATP-binding cassette, sub-family D (ALD), member 4,606aa) | g.14:74757185G>A,c.1136C>T,p.A379V |
| ABCD4(NM_005050,ATP-binding cassette, sub-family D (ALD), member 4,606aa) | g.14:74756738G>A,c.1411C>T,p.R471W |
| ABCD4(NM_005050,ATP-binding cassette, sub-family D (ALD), member 4,606aa) | g.14:74755460C>T,c.1465G>A,p.D489N |
| ABCD4(NM_005050,ATP-binding cassette, sub-family D (ALD), member 4,606aa) | g.14:74754936G>A,c.1533C>T,p.G511G |
| ABCD4(NM_005050,ATP-binding cassette, sub-family D (ALD), member 4,606aa) | g.14:74753420C>T,c.1736G>A,p.R579Q |
| ABCD3(NM_002858,ATP-binding cassette, sub-family D (ALD), member 3,659aa) | g.1:94930338G>T,c.155G>T,p.G52V |
| ABCD2(NM_005164,ATP-binding cassette, sub-family D (ALD), member 2,740aa) | g.12:40013392G>C,c.26C>G,p.A9G |
| ABCD2(NM_005164,ATP-binding cassette, sub-family D (ALD), member 2,740aa) | g.12:40013364A>C,c.54T>G,p.S18R |
| ABCD2(NM_005164,ATP-binding cassette, sub-family D (ALD), member 2,740aa) | g.12:40013230G>C,c.188C>G,p.T63R |
| ABCD2(NM_005164,ATP-binding cassette, sub-family D (ALD), member 2,740aa) | g.12:40012657A>G,c.761T>C,p.I254T |
| ABCD2(NM_005164,ATP-binding cassette, sub-family D (ALD), member 2,740aa) | g.12:39973395C>T,c.1819G>A,p.D607N |
| ABCD1(NM_000033,ATP-binding cassette, sub-family D (ALD), member 1,745aa) | g.X:153008984G>A,c.2033G>A,p.G678D |
| ABCD1(NM_000033,ATP-binding cassette, sub-family D (ALD), member 1,745aa) | g.X:153006141T>A,c.1748T>A,p.V583E |
| ABCD1(NM_000033,ATP-binding cassette, sub-family D (ALD), member 1,745aa) | g.X:152990759A>C,c.38A>C,p.N13T |
| ABCC9(NM_020297,ATP-binding cassette, sub-family C (CFTR/MRP), member 9,1549aa) | g.12:22035731C>T,c.1988G>A,p.R663H |
| ABCC9(NM_020297,ATP-binding cassette, sub-family C (CFTR/MRP), member 9,1549aa) | g.12:22035726C>T,c.1993G>A,p.A665T |