| 基因名 | 突变 |
|---|---|
| ABCB6(NM_005689,ATP-binding cassette, sub-family B (MDR/TAP), member 6,842aa) | g.2:220075746G>A,c.2053C>T,p.R685C |
| ABCB6(NM_005689,ATP-binding cassette, sub-family B (MDR/TAP), member 6,842aa) | g.2:220075522G>A,c.2167C>T,p.R723W |
| ABCB6(NM_005689,ATP-binding cassette, sub-family B (MDR/TAP), member 6,842aa) | g.2:220075521C>T,c.2168G>A,p.R723Q |
| ABCB6(NM_005689,ATP-binding cassette, sub-family B (MDR/TAP), member 6,842aa) | g.2:220075486C>T,c.2203G>A,p.V735I |
| ABCB6(NM_005689,ATP-binding cassette, sub-family B (MDR/TAP), member 6,842aa) | g.2:220075474G>A,c.2215C>T,p.R739C |
| ABCB6(NM_005689,ATP-binding cassette, sub-family B (MDR/TAP), member 6,842aa) | g.2:220075194T>C,c.2260A>G,p.T754A |
| ABCB6(NM_005689,ATP-binding cassette, sub-family B (MDR/TAP), member 6,842aa) | g.2:220074983T>C,c.2389A>G,p.I797V |
| ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) | g.7:20793113A>G,c.3560A>G,p.D1187G |
| ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) | g.7:20793100A>C,c.3547A>C,p.T1183P |
| ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) | g.7:20785011G>A,c.3379G>A,p.E1127K |
| ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) | g.7:20785006T>A,c.3374T>A,p.I1125N |
| ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) | g.7:20784888G>A,c.3256G>A,p.V1086I |
| ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) | g.7:20782621T>C,c.3146T>C,p.V1049A |
| ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) | g.7:20782517del,c.3042del,p.1014fs |
| ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) | g.7:20778646G>A,c.2908G>A,p.E970K |
| ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) | g.7:20768077A>T,c.2866A>T,p.I956L |
| ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) | g.7:20767981T>C,c.2770T>C,p.F924L |
| ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) | g.7:20767954G>A,c.2743G>A,p.A915T |
| ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) | g.7:20762826T>A,c.2609T>A,p.L870H |
| ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) | g.7:20762809C>A,c.2592C>A,p.N864K |
| ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) | g.7:20762786G>A,c.2569G>A,p.A857T |
| ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) | g.7:20762646G>T,c.2429G>T,p.G810V |
| ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) | g.7:20739718T>C,c.2297T>C,p.M766T |
| ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) | g.7:20739693G>A,c.2272G>A,p.G758S |
| ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) | g.7:20721270A>G,c.1850A>G,p.Y617C |
| ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) | g.7:20721267A>G,c.1847A>G,p.Y616C |
| ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) | g.7:20721192T>A,c.1772T>A,p.L591X |
| ABCB5(NM_001163941,ATP-binding cassette, sub-family B (MDR/TAP), member 5,1257aa) | g.7:20698270A>G,c.1678A>G,p.K560E |