基因名 突变
ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) g.7:20698162C>A,c.1570C>A,p.Q524K
ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) g.7:20691167G>A,c.1457G>A,p.R486Q
ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) g.7:20691047T>C,c.1337T>C,p.M446T
ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) g.7:20687604A>G,c.1109A>G,p.D370G
ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) g.7:20687600A>G,c.1105A>G,p.I369V
ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) g.7:20687224G>A,c.1048G>A,p.A350T
ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) g.7:20687192T>C,c.1016T>C,p.I339T
ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) g.7:20685484C>A,c.784C>A,p.Q262K
ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) g.7:20685397A>C,c.697A>C,p.S233R
ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) g.7:20683170T>C,c.593T>C,p.V198A
ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) g.7:20682989G>A,c.497G>A,p.R166H
ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) g.7:20682950G>A,c.458G>A,p.G153D
ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) g.7:20682884C>T,c.392C>T,p.T131I
ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) g.7:20682857A>T,c.365A>T,p.Y122F
ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) g.7:20666235G>C,c.108+1G>C,p.36Donor
ABCB4(NM_018849,ATP-binding cassette, sub-family B (MDR/TAP), member 4,1286aa) g.7:87101971G>A,c.101C>T,p.T34M
ABCB4(NM_018849,ATP-binding cassette, sub-family B (MDR/TAP), member 4,1286aa) g.7:87082292G>A,c.504C>T,p.N168N
ABCB4(NM_018849,ATP-binding cassette, sub-family B (MDR/TAP), member 4,1286aa) g.7:87082273T>C,c.523A>G,p.T175A
ABCB4(NM_018849,ATP-binding cassette, sub-family B (MDR/TAP), member 4,1286aa) g.7:87079406T>A,c.711A>T,p.I237I
ABCB4(NM_018849,ATP-binding cassette, sub-family B (MDR/TAP), member 4,1286aa) g.7:87069546T>C,c.1529A>G,p.N510S
ABCB4(NM_018849,ATP-binding cassette, sub-family B (MDR/TAP), member 4,1286aa) g.7:87056220A>T,c.1910T>A,p.I637N
ABCB4(NM_018849,ATP-binding cassette, sub-family B (MDR/TAP), member 4,1286aa) g.7:87056178G>T,c.1952C>A,p.T651N
ABCB4(NM_018849,ATP-binding cassette, sub-family B (MDR/TAP), member 4,1286aa) g.7:87056176T>C,c.1954A>G,p.R652G
ABCB4(NM_018849,ATP-binding cassette, sub-family B (MDR/TAP), member 4,1286aa) g.7:87049345C>T,c.2363G>A,p.R788Q
ABCB1(NM_000927,ATP-binding cassette, sub-family B (MDR/TAP), member 1,1280aa) g.7:87229440T>C,c.61A>G,p.N21D
ABCB1(NM_000927,ATP-binding cassette, sub-family B (MDR/TAP), member 1,1280aa) g.7:87214970C>A,c.144G>T,p.K48N
ABCB1(NM_000927,ATP-binding cassette, sub-family B (MDR/TAP), member 1,1280aa) g.7:87199522C>G,c.304G>C,p.G102R
ABCB1(NM_000927,ATP-binding cassette, sub-family B (MDR/TAP), member 1,1280aa) g.7:87199501C>T,c.325G>A,p.E109K
注意:这是数据表的摘录,包括在我们的研究中观察到的已发表的多态性位点。 如需完整的变体列表和潜在合作,请联系 huh@cougarlab.org