| 基因名 | 突变 |
|---|---|
| MKS1(NM_017777,Meckel syndrome, type 1,559aa) | g.17:56289780T>C,c.874A>G,p.K292E |
| MKS1(NM_017777,Meckel syndrome, type 1,559aa) | g.17:56285315C>T,c.1213G>A,p.D405N |
| MKS1(NM_017777,Meckel syndrome, type 1,559aa) | g.17:56285297G>A,c.1231C>T,p.R411C |
| MKS1(NM_017777,Meckel syndrome, type 1,559aa) | g.17:56284504A>G,c.1349T>C,p.I450T |
| MKS1(NM_017777,Meckel syndrome, type 1,559aa) | g.17:56284465C>T,c.1388G>A,p.R463Q |
| MKS1(NM_017777,Meckel syndrome, type 1,559aa) | g.17:56283902G>A,c.1414C>T,p.R472C |
| MKS1(NM_017777,Meckel syndrome, type 1,559aa) | g.17:56283703C>T,c.1529G>A,p.R510Q |
| MKS1(NM_017777,Meckel syndrome, type 1,559aa) | g.17:56283519C>T,c.1601G>A,p.R534Q |
| MKRN3(NM_005664,makorin ring finger protein 3,507aa) | g.15:23812334C>T,c.1405C>T,p.R469W |
| MKRN3(NM_005664,makorin ring finger protein 3,507aa) | g.15:23812278G>C,c.1349G>C,p.R450P |
| MKRN3(NM_005664,makorin ring finger protein 3,507aa) | g.15:23812215A>G,c.1286A>G,p.E429G |
| MKRN3(NM_005664,makorin ring finger protein 3,507aa) | g.15:23811516G>T,c.587G>T,p.G196V |
| MKRN3(NM_005664,makorin ring finger protein 3,507aa) | g.15:23811411C>T,c.482C>T,p.P161L |
| MKRN2(NM_014160,makorin ring finger protein 2,416aa) | g.3:12616498A>G,c.850A>G,p.I284V |
| MKRN2(NM_014160,makorin ring finger protein 2,416aa) | g.3:12611719G>A,c.305G>A,p.R102H |
| MKRN2(NM_014160,makorin ring finger protein 2,416aa) | g.3:12610453A>G,c.106A>G,p.I36V |
| MKRN1(NM_013446,makorin ring finger protein 1,482aa) | g.7:140179092G>C,c.53C>G,p.A18G |
| MKRN1(NM_013446,makorin ring finger protein 1,482aa) | g.7:140179086G>T,c.59C>A,p.A20E |
| MKRN1(NM_013446,makorin ring finger protein 1,482aa) | g.7:140179056G>T,c.89C>A,p.P30Q |
| MKRN1(NM_013446,makorin ring finger protein 1,482aa) | g.7:140159614G>A,c.437C>T,p.T146I |
| MKRN1(NM_013446,makorin ring finger protein 1,482aa) | g.7:140158959C>T,c.619G>A,p.V207M |
| MKRN1(NM_013446,makorin ring finger protein 1,482aa) | g.7:140158851C>G,c.727G>C,p.V243L |
| MKRN1(NM_013446,makorin ring finger protein 1,482aa) | g.7:140154486T>G,c.1280A>C,p.E427A |
| MKNK2(NM_199054,MAP kinase interacting serine/threonine kinase 2,465aa) | g.19:2050823G>T,c.28C>A,p.Q10K |
| MKNK2(NM_199054,MAP kinase interacting serine/threonine kinase 2,465aa) | g.19:2046402C>T,c.205G>A,p.G69S |
| MKNK2(NM_199054,MAP kinase interacting serine/threonine kinase 2,465aa) | g.19:2046399G>A,c.208C>T,p.R70W |
| MKNK2(NM_199054,MAP kinase interacting serine/threonine kinase 2,465aa) | g.19:2042477G>C,c.699C>G,p.I233M |
| MKNK2(NM_199054,MAP kinase interacting serine/threonine kinase 2,465aa) | g.19:2041098G>A,c.1051C>T,p.R351C |