基因名 |
突变 |
ABCG2(NM_004827,ATP-binding cassette, sub-family G (WHITE), member 2,655aa) |
g.4:89013496C>T,c.1858G>A,p.D620N |
ABCG1(NM_207627,ATP-binding cassette, sub-family G (WHITE), member 1,668aa) |
g.21:43716425G>A,c.1930G>A,p.V644I |
ABCG1(NM_207627,ATP-binding cassette, sub-family G (WHITE), member 1,668aa) |
g.21:43708370C>T,c.1178C>T,p.T393M |
ABCG1(NM_207627,ATP-binding cassette, sub-family G (WHITE), member 1,668aa) |
g.21:43708041G>A,c.1022G>A,p.R341Q |
ABCG1(NM_207627,ATP-binding cassette, sub-family G (WHITE), member 1,668aa) |
g.21:43704722G>A,c.793G>A,p.A265T |
ABCG1(NM_207627,ATP-binding cassette, sub-family G (WHITE), member 1,668aa) |
g.21:43704683G>A,c.754G>A,p.A252T |
ABCG1(NM_207627,ATP-binding cassette, sub-family G (WHITE), member 1,668aa) |
g.21:43645788G>A,c.56G>A,p.S19N |
ABCF3(NM_018358,ATP-binding cassette, sub-family F (GCN20), member 3,709aa) |
g.3:183911416G>A,c.2060G>A,p.R687H |
ABCF3(NM_018358,ATP-binding cassette, sub-family F (GCN20), member 3,709aa) |
g.3:183910992G>A,c.1853G>A,p.R618Q |
ABCF3(NM_018358,ATP-binding cassette, sub-family F (GCN20), member 3,709aa) |
g.3:183910604T>C,c.1670T>C,p.I557T |
ABCF3(NM_018358,ATP-binding cassette, sub-family F (GCN20), member 3,709aa) |
g.3:183908982C>T,c.1508C>T,p.P503L |
ABCF3(NM_018358,ATP-binding cassette, sub-family F (GCN20), member 3,709aa) |
g.3:183908978G>C,c.1504G>C,p.D502H |
ABCF3(NM_018358,ATP-binding cassette, sub-family F (GCN20), member 3,709aa) |
g.3:183908808C>G,c.1413C>G,p.D471E |
ABCF3(NM_018358,ATP-binding cassette, sub-family F (GCN20), member 3,709aa) |
g.3:183907517C>T,c.1286C>T,p.A429V |
ABCF3(NM_018358,ATP-binding cassette, sub-family F (GCN20), member 3,709aa) |
g.3:183907385A>G,c.1154A>G,p.N385S |
ABCF3(NM_018358,ATP-binding cassette, sub-family F (GCN20), member 3,709aa) |
g.3:183907346C>T,c.1115C>T,p.T372M |
ABCF2(NM_007189,ATP-binding cassette, sub-family F (GCN20), member 2,623aa) |
g.7:150920815T>A,c.671A>T,p.K224M |
ABCF2(NM_007189,ATP-binding cassette, sub-family F (GCN20), member 2,623aa) |
g.7:150911145C>T,c.1867G>A,p.V623M |
ABCF1(NM_001025091,ATP-binding cassette, sub-family F (GCN20), member 1,845aa) |
g.6:30553439A>G,c.1580A>G,p.H527R |
ABCF1(NM_001025091,ATP-binding cassette, sub-family F (GCN20), member 1,845aa) |
g.6:30552050G>A,c.1184G>A,p.R395Q |
ABCF1(NM_001025091,ATP-binding cassette, sub-family F (GCN20), member 1,845aa) |
g.6:30548210A>G,c.592A>G,p.N198D |
ABCF1(NM_001025091,ATP-binding cassette, sub-family F (GCN20), member 1,845aa) |
g.6:30547744del,c.526del,p.176fs |
ABCF1(NM_001025091,ATP-binding cassette, sub-family F (GCN20), member 1,845aa) |
g.6:30546332C>T,c.467C>T,p.P156L |
ABCF1(NM_001025091,ATP-binding cassette, sub-family F (GCN20), member 1,845aa) |
g.6:30546263C>T,c.398C>T,p.A133V |
ABCF1(NM_001025091,ATP-binding cassette, sub-family F (GCN20), member 1,845aa) |
g.6:30545863A>G,c.227A>G,p.K76R |
ABCF1(NM_001025091,ATP-binding cassette, sub-family F (GCN20), member 1,845aa) |
g.6:30539316G>A,c.52G>A,p.G18R |
ABCD4(NM_005050,ATP-binding cassette, sub-family D (ALD), member 4,606aa) |
g.14:74766869C>G,c.141G>C,p.L47F |
ABCD4(NM_005050,ATP-binding cassette, sub-family D (ALD), member 4,606aa) |
g.14:74766360T>C,c.176A>G,p.Q59R |