| 基因名 | 突变 |
|---|---|
| ABCB8(NM_001282291,ATP-binding cassette, sub-family B (MDR/TAP), member 8,735aa) | g.7:150730966C>G,c.421C>G,p.L141V |
| ABCB8(NM_001282291,ATP-binding cassette, sub-family B (MDR/TAP), member 8,735aa) | g.7:150730927G>T,c.382G>T,p.V128L |
| ABCB8(NM_001282291,ATP-binding cassette, sub-family B (MDR/TAP), member 8,735aa) | g.7:150730900C>T,c.355C>T,p.P119S |
| ABCB8(NM_001282291,ATP-binding cassette, sub-family B (MDR/TAP), member 8,735aa) | g.7:150730745G>A,c.200G>A,p.R67Q |
| ABCB8(NM_001282291,ATP-binding cassette, sub-family B (MDR/TAP), member 8,735aa) | g.7:150730744C>T,c.199C>T,p.R67W |
| ABCB8(NM_001282291,ATP-binding cassette, sub-family B (MDR/TAP), member 8,735aa) | g.7:150730712G>A,c.167G>A,p.S56N |
| ABCB7(NM_004299,ATP-binding cassette, sub-family B (MDR/TAP), member 7,753aa) | g.X:74375987A>G,c.121T>C,p.W41R |
| ABCB7(NM_004299,ATP-binding cassette, sub-family B (MDR/TAP), member 7,753aa) | g.X:74334588C>T,c.249+1G>A,p.83Donor |
| ABCB7(NM_004299,ATP-binding cassette, sub-family B (MDR/TAP), member 7,753aa) | g.X:74293742C>G,c.908G>C,p.G303A |
| ABCB7(NM_004299,ATP-binding cassette, sub-family B (MDR/TAP), member 7,753aa) | g.X:74293709C>T,c.941G>A,p.R314Q |
| ABCB7(NM_004299,ATP-binding cassette, sub-family B (MDR/TAP), member 7,753aa) | g.X:74291377T>C,c.1177A>G,p.I393V |
| ABCB7(NM_004299,ATP-binding cassette, sub-family B (MDR/TAP), member 7,753aa) | g.X:74288912T>C,c.1592A>G,p.Y531C |
| ABCB7(NM_004299,ATP-binding cassette, sub-family B (MDR/TAP), member 7,753aa) | g.X:74285013G>A,c.1726C>T,p.P576S |
| ABCB7(NM_004299,ATP-binding cassette, sub-family B (MDR/TAP), member 7,753aa) | g.X:74273254T>C,c.2213A>G,p.Q738R |
| ABCB7(NM_004299,ATP-binding cassette, sub-family B (MDR/TAP), member 7,753aa) | g.X:74273239T>C,c.2228A>G,p.N743S |
| ABCB6(NM_005689,ATP-binding cassette, sub-family B (MDR/TAP), member 6,842aa) | g.2:220083016_220083018del,c.378_380del,p.126_127del |
| ABCB6(NM_005689,ATP-binding cassette, sub-family B (MDR/TAP), member 6,842aa) | g.2:220082993G>T,c.403C>A,p.R135S |
| ABCB6(NM_005689,ATP-binding cassette, sub-family B (MDR/TAP), member 6,842aa) | g.2:220082984T>C,c.412A>G,p.M138V |
| ABCB6(NM_005689,ATP-binding cassette, sub-family B (MDR/TAP), member 6,842aa) | g.2:220082505G>A,c.574C>T,p.R192W |
| ABCB6(NM_005689,ATP-binding cassette, sub-family B (MDR/TAP), member 6,842aa) | g.2:220082504C>T,c.575G>A,p.R192Q |
| ABCB6(NM_005689,ATP-binding cassette, sub-family B (MDR/TAP), member 6,842aa) | g.2:220081416G>A,c.826C>T,p.R276W |
| ABCB6(NM_005689,ATP-binding cassette, sub-family B (MDR/TAP), member 6,842aa) | g.2:220080845C>T,c.1028G>A,p.R343Q |
| ABCB6(NM_005689,ATP-binding cassette, sub-family B (MDR/TAP), member 6,842aa) | g.2:220078652C>T,c.1474G>A,p.A492T |
| ABCB6(NM_005689,ATP-binding cassette, sub-family B (MDR/TAP), member 6,842aa) | g.2:220078186A>G,c.1694T>C,p.F565S |
| ABCB6(NM_005689,ATP-binding cassette, sub-family B (MDR/TAP), member 6,842aa) | g.2:220078006C>T,c.1762G>A,p.G588S |
| ABCB6(NM_005689,ATP-binding cassette, sub-family B (MDR/TAP), member 6,842aa) | g.2:220077972T>C,c.1796A>G,p.Y599C |
| ABCB6(NM_005689,ATP-binding cassette, sub-family B (MDR/TAP), member 6,842aa) | g.2:220077768C>T,c.1825G>A,p.V609M |
| ABCB6(NM_005689,ATP-binding cassette, sub-family B (MDR/TAP), member 6,842aa) | g.2:220075785C>T,c.2014G>A,p.D672N |