| 基因名 | 突变 |
|---|---|
| NPIPA1(NM_006985,nuclear pore complex interacting protein family, member A1,350aa) | g.16:15045631G>A,c.802G>A,p.E268K |
| NPIPA1(NM_006985,nuclear pore complex interacting protein family, member A1,350aa) | g.16:15045595A>G,c.766A>G,p.I256V |
| NPHS2(NM_014625,nephrosis 2, idiopathic, steroid-resistant (podocin),383aa) | g.1:179544941G>A,c.59C>T,p.P20L |
| NPHS2(NM_014625,nephrosis 2, idiopathic, steroid-resistant (podocin),383aa) | g.1:179530462C>T,c.413G>A,p.R138Q |
| NPHS2(NM_014625,nephrosis 2, idiopathic, steroid-resistant (podocin),383aa) | g.1:179530460G>T,c.415C>A,p.L139M |
| NPHS2(NM_014625,nephrosis 2, idiopathic, steroid-resistant (podocin),383aa) | g.1:179526362C>T,c.538G>A,p.V180M |
| NPHS2(NM_014625,nephrosis 2, idiopathic, steroid-resistant (podocin),383aa) | g.1:179526214C>T,c.686G>A,p.R229Q |
| NPHS2(NM_014625,nephrosis 2, idiopathic, steroid-resistant (podocin),383aa) | g.1:179526176C>T,c.724G>A,p.A242T |
| NPHS2(NM_014625,nephrosis 2, idiopathic, steroid-resistant (podocin),383aa) | g.1:179521751T>C,c.860A>G,p.Q287R |
| NPHS2(NM_014625,nephrosis 2, idiopathic, steroid-resistant (podocin),383aa) | g.1:179521743C>T,c.868G>A,p.V290M |
| NPHS2(NM_014625,nephrosis 2, idiopathic, steroid-resistant (podocin),383aa) | g.1:179521740G>A,c.871C>T,p.R291W |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36342726G>A,c.14C>T,p.T5M |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36342723G>A,c.17C>T,p.T6M |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36342697C>G,c.43G>C,p.G15R |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36342568G>A,c.65C>T,p.A22V |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36342451G>A,c.182C>T,p.A61V |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36342267G>A,c.294C>T,p.I98I |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36342212C>T,c.349G>A,p.E117K |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36341311T>A,c.563A>T,p.N188I |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36340548G>T,c.616C>A,p.P206T |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36340216G>T,c.762C>A,p.H254Q |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36340187G>C,c.791C>G,p.P264R |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36340175C>T,c.803G>A,p.R268Q |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36340009G>A,c.881C>T,p.T294I |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36339295A>G,c.1175T>C,p.L392P |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36339247C>T,c.1223G>A,p.R408Q |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36339044C>T,c.1339G>A,p.E447K |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36336927G>A,c.1610C>T,p.T537M |