| 基因名 | 突变 |
|---|---|
| MVB12A(NM_138401,multivesicular body subunit 12A,273aa) | g.19:17534560C>T,c.592C>T,p.R198W |
| MVB12A(NM_138401,multivesicular body subunit 12A,273aa) | g.19:17534540G>T,c.572G>T,p.G191V |
| MVB12A(NM_138401,multivesicular body subunit 12A,273aa) | g.19:17534351C>G,c.458C>G,p.P153R |
| MVB12A(NM_138401,multivesicular body subunit 12A,273aa) | g.19:17533261G>A,c.407G>A,p.R136Q |
| MUTYH(NM_001128425,mutY homolog,549aa) | g.1:45800167G>A,c.53C>T,p.P18L |
| MUTYH(NM_001128425,mutY homolog,549aa) | g.1:45800156C>T,c.64G>A,p.V22M |
| MUTYH(NM_001128425,mutY homolog,549aa) | g.1:45800146C>T,c.74G>A,p.G25D |
| MUTYH(NM_001128425,mutY homolog,549aa) | g.1:45798475T>C,c.536A>G,p.Y179C |
| MUTYH(NM_001128425,mutY homolog,549aa) | g.1:45797950C>T,c.821G>A,p.R274Q |
| MUTYH(NM_001128425,mutY homolog,549aa) | g.1:45797846G>A,c.925C>T,p.R309C |
| MUTYH(NM_001128425,mutY homolog,549aa) | g.1:45797760T>C,c.934-2A>G,p.312Acceptor |
| MUTYH(NM_001128425,mutY homolog,549aa) | g.1:45797505C>G,c.1014G>C,p.Q338H |
| MUTYH(NM_001128425,mutY homolog,549aa) | g.1:45797401G>A,c.1118C>T,p.A373V |
| MUTYH(NM_001128425,mutY homolog,549aa) | g.1:45797228C>T,c.1187G>A,p.G396D |
| MUTYH(NM_001128425,mutY homolog,549aa) | g.1:45797157G>T,c.1258C>A,p.L420M |
| MUTYH(NM_001128425,mutY homolog,549aa) | g.1:45797139G>A,c.1276C>T,p.R426C |
| MUTYH(NM_001128425,mutY homolog,549aa) | g.1:45796910G>A,c.1420C>T,p.R474C |
| MUTYH(NM_001128425,mutY homolog,549aa) | g.1:45796899C>G,c.1431G>C,p.T477T |
| MUTYH(NM_001128425,mutY homolog,549aa) | g.1:45795084G>A,c.1544C>T,p.S515F |
| MUTYH(NM_001128425,mutY homolog,549aa) | g.1:45795043G>T,c.1585C>A,p.L529M |
| MUTYH(NM_001128425,mutY homolog,549aa) | g.1:45795027C>T,c.1601G>A,p.R534Q |
| MUT(NM_000255,methylmalonyl CoA mutase,750aa) | g.6:49425696C>T,c.461G>A,p.R154H |
| MUT(NM_000255,methylmalonyl CoA mutase,750aa) | g.6:49425591T>C,c.566A>G,p.N189S |
| MUT(NM_000255,methylmalonyl CoA mutase,750aa) | g.6:49425475G>A,c.682C>T,p.R228X |
| MUT(NM_000255,methylmalonyl CoA mutase,750aa) | g.6:49423826T>C,c.878A>G,p.Q293R |
| MUT(NM_000255,methylmalonyl CoA mutase,750aa) | g.6:49419386C>T,c.1125G>A,p.M375I |
| MUT(NM_000255,methylmalonyl CoA mutase,750aa) | g.6:49419225T>C,c.1286A>G,p.Y429C |
| MUT(NM_000255,methylmalonyl CoA mutase,750aa) | g.6:49415448C>T,c.1495G>A,p.A499T |