| 基因名 | 突变 |
|---|---|
| ABCG5(NM_022436,ATP-binding cassette, sub-family G (WHITE), member 5,651aa) | g.2:44047175G>T,c.1528C>A,p.H510N |
| ABCG5(NM_022436,ATP-binding cassette, sub-family G (WHITE), member 5,651aa) | g.2:44047136T>C,c.1567A>G,p.I523V |
| ABCG5(NM_022436,ATP-binding cassette, sub-family G (WHITE), member 5,651aa) | g.2:44047133C>T,c.1570G>A,p.V524I |
| ABCG5(NM_022436,ATP-binding cassette, sub-family G (WHITE), member 5,651aa) | g.2:44040401G>C,c.1810C>G,p.Q604E |
| ABCG5(NM_022436,ATP-binding cassette, sub-family G (WHITE), member 5,651aa) | g.2:44040359A>G,c.1852T>C,p.S618P |
| ABCG5(NM_022436,ATP-binding cassette, sub-family G (WHITE), member 5,651aa) | g.2:44040355C>G,c.1856G>C,p.R619T |
| ABCG5(NM_022436,ATP-binding cassette, sub-family G (WHITE), member 5,651aa) | g.2:44040347T>C,c.1864A>G,p.M622V |
| ABCG4(NM_022169,ATP-binding cassette, sub-family G (WHITE), member 4,646aa) | g.11:119027656G>A,c.1000G>A,p.A334T |
| ABCG4(NM_022169,ATP-binding cassette, sub-family G (WHITE), member 4,646aa) | g.11:119027052G>A,c.700G>A,p.A234T |
| ABCG4(NM_022169,ATP-binding cassette, sub-family G (WHITE), member 4,646aa) | g.11:119024810del,c.313del,p.105fs |
| ABCG4(NM_022169,ATP-binding cassette, sub-family G (WHITE), member 4,646aa) | g.11:119020895C>T,c.220C>T,p.P74S |
| ABCG4(NM_022169,ATP-binding cassette, sub-family G (WHITE), member 4,646aa) | g.11:119020719C>T,c.44C>T,p.P15L |
| ABCG2(NM_004827,ATP-binding cassette, sub-family G (WHITE), member 2,655aa) | g.4:89061114C>T,c.34G>A,p.V12M |
| ABCG2(NM_004827,ATP-binding cassette, sub-family G (WHITE), member 2,655aa) | g.4:89053728G>A,c.263C>T,p.S88L |
| ABCG2(NM_004827,ATP-binding cassette, sub-family G (WHITE), member 2,655aa) | g.4:89052998G>T,c.335C>A,p.P112Q |
| ABCG2(NM_004827,ATP-binding cassette, sub-family G (WHITE), member 2,655aa) | g.4:89052957G>A,c.376C>T,p.Q126X |
| ABCG2(NM_004827,ATP-binding cassette, sub-family G (WHITE), member 2,655aa) | g.4:89052361T>A,c.383A>T,p.D128V |
| ABCG2(NM_004827,ATP-binding cassette, sub-family G (WHITE), member 2,655aa) | g.4:89052323G>T,c.421C>A,p.Q141K |
| ABCG2(NM_004827,ATP-binding cassette, sub-family G (WHITE), member 2,655aa) | g.4:89052305G>A,c.439C>T,p.R147W |
| ABCG2(NM_004827,ATP-binding cassette, sub-family G (WHITE), member 2,655aa) | g.4:89052299C>G,c.445G>C,p.A149P |
| ABCG2(NM_004827,ATP-binding cassette, sub-family G (WHITE), member 2,655aa) | g.4:89042926G>A,c.550C>T,p.R184C |
| ABCG2(NM_004827,ATP-binding cassette, sub-family G (WHITE), member 2,655aa) | g.4:89039396G>A,c.706C>T,p.R236X |
| ABCG2(NM_004827,ATP-binding cassette, sub-family G (WHITE), member 2,655aa) | g.4:89039297G>A,c.805C>T,p.P269S |
| ABCG2(NM_004827,ATP-binding cassette, sub-family G (WHITE), member 2,655aa) | g.4:89034589C>T,c.1060G>A,p.G354R |
| ABCG2(NM_004827,ATP-binding cassette, sub-family G (WHITE), member 2,655aa) | g.4:89034501C>T,c.1148G>A,p.R383H |
| ABCG2(NM_004827,ATP-binding cassette, sub-family G (WHITE), member 2,655aa) | g.4:89020503A>G,c.1465T>C,p.F489L |
| ABCG2(NM_004827,ATP-binding cassette, sub-family G (WHITE), member 2,655aa) | g.4:89015762T>C,c.1787A>G,p.N596S |
| ABCG2(NM_004827,ATP-binding cassette, sub-family G (WHITE), member 2,655aa) | g.4:89013532A>G,c.1822T>C,p.C608R |