| 基因名 | 突变 |
|---|---|
| ABCG8(NM_022437,ATP-binding cassette, sub-family G (WHITE), member 8,673aa) | g.2:44079831G>A,c.788G>A,p.R263Q |
| ABCG8(NM_022437,ATP-binding cassette, sub-family G (WHITE), member 8,673aa) | g.2:44079829C>A,c.786C>A,p.N262K |
| ABCG8(NM_022437,ATP-binding cassette, sub-family G (WHITE), member 8,673aa) | g.2:44079755G>A,c.712G>A,p.E238K |
| ABCG8(NM_022437,ATP-binding cassette, sub-family G (WHITE), member 8,673aa) | g.2:44079559G>A,c.628G>A,p.V210M |
| ABCG8(NM_022437,ATP-binding cassette, sub-family G (WHITE), member 8,673aa) | g.2:44079544G>A,c.613G>A,p.V205M |
| ABCG8(NM_022437,ATP-binding cassette, sub-family G (WHITE), member 8,673aa) | g.2:44079542G>A,c.611G>A,p.R204H |
| ABCG8(NM_022437,ATP-binding cassette, sub-family G (WHITE), member 8,673aa) | g.2:44079517C>T,c.586C>T,p.R196W |
| ABCG8(NM_022437,ATP-binding cassette, sub-family G (WHITE), member 8,673aa) | g.2:44079509C>T,c.578C>T,p.A193V |
| ABCG8(NM_022437,ATP-binding cassette, sub-family G (WHITE), member 8,673aa) | g.2:44078891G>A,c.491G>A,p.R164Q |
| ABCG8(NM_022437,ATP-binding cassette, sub-family G (WHITE), member 8,673aa) | g.2:44078762G>A,c.362G>A,p.R121Q |
| ABCG8(NM_022437,ATP-binding cassette, sub-family G (WHITE), member 8,673aa) | g.2:44073367G>A,c.239G>A,p.C80Y |
| ABCG8(NM_022437,ATP-binding cassette, sub-family G (WHITE), member 8,673aa) | g.2:44073348C>G,c.220C>G,p.P74A |
| ABCG8(NM_022437,ATP-binding cassette, sub-family G (WHITE), member 8,673aa) | g.2:44071743A>G,c.161A>G,p.Y54C |
| ABCG8(NM_022437,ATP-binding cassette, sub-family G (WHITE), member 8,673aa) | g.2:44066247G>C,c.55G>C,p.D19H |
| ABCG5(NM_022436,ATP-binding cassette, sub-family G (WHITE), member 5,651aa) | g.2:44065739C>G,c.80G>C,p.G27A |
| ABCG5(NM_022436,ATP-binding cassette, sub-family G (WHITE), member 5,651aa) | g.2:44065090G>A,c.148C>T,p.R50C |
| ABCG5(NM_022436,ATP-binding cassette, sub-family G (WHITE), member 5,651aa) | g.2:44065003C>T,c.235G>A,p.G79R |
| ABCG5(NM_022436,ATP-binding cassette, sub-family G (WHITE), member 5,651aa) | g.2:44059195G>C,c.293C>G,p.A98G |
| ABCG5(NM_022436,ATP-binding cassette, sub-family G (WHITE), member 5,651aa) | g.2:44053564A>G,c.731T>C,p.I244T |
| ABCG5(NM_022436,ATP-binding cassette, sub-family G (WHITE), member 5,651aa) | g.2:44053544G>A,c.751C>T,p.Q251X |
| ABCG5(NM_022436,ATP-binding cassette, sub-family G (WHITE), member 5,651aa) | g.2:44051562G>A,c.914C>T,p.T305M |
| ABCG5(NM_022436,ATP-binding cassette, sub-family G (WHITE), member 5,651aa) | g.2:44051496G>A,c.980C>T,p.S327F |
| ABCG5(NM_022436,ATP-binding cassette, sub-family G (WHITE), member 5,651aa) | g.2:44051210C>T,c.1166G>A,p.R389H |
| ABCG5(NM_022436,ATP-binding cassette, sub-family G (WHITE), member 5,651aa) | g.2:44051166C>T,c.1210G>A,p.V404I |
| ABCG5(NM_022436,ATP-binding cassette, sub-family G (WHITE), member 5,651aa) | g.2:44051120C>T,c.1256G>A,p.R419H |
| ABCG5(NM_022436,ATP-binding cassette, sub-family G (WHITE), member 5,651aa) | g.2:44050069C>T,c.1330G>A,p.V444M |
| ABCG5(NM_022436,ATP-binding cassette, sub-family G (WHITE), member 5,651aa) | g.2:44050063G>A,c.1336C>T,p.R446X |
| ABCG5(NM_022436,ATP-binding cassette, sub-family G (WHITE), member 5,651aa) | g.2:44050033C>T,c.1366G>A,p.G456S |