| Genename | Variants |
|---|---|
| NEDD4(NM_198400,neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase,1247aa) | g.15:56126450T>C,c.3338A>G,p.K1113R |
| NEDD4(NM_198400,neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase,1247aa) | g.15:56122129A>G,c.3710T>C,p.I1237T |
| NEDD4L(NM_001144967,neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase,975aa) | g.18:56002750C>G,c.1106C>G,p.T369R |
| NEDD4L(NM_001144967,neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase,975aa) | g.18:56002735G>A,c.1091G>A,p.R364H |
| NEDD4L(NM_001144967,neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase,975aa) | g.18:55998136G>A,c.980G>A,p.S327N |
| NEDD4L(NM_001144967,neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase,975aa) | g.18:55996244C>T,c.698C>T,p.S233L |
| NEDD1(NM_152905,neural precursor cell expressed, developmentally down-regulated 1,660aa) | g.12:97338484C>T,c.1565C>T,p.T522I |
| NEDD1(NM_152905,neural precursor cell expressed, developmentally down-regulated 1,660aa) | g.12:97338420G>A,c.1501G>A,p.A501T |
| NEDD1(NM_152905,neural precursor cell expressed, developmentally down-regulated 1,660aa) | g.12:97337404C>T,c.1361C>T,p.T454I |
| NEDD1(NM_152905,neural precursor cell expressed, developmentally down-regulated 1,660aa) | g.12:97331118A>G,c.1064A>G,p.Q355R |
| NECAP2(NM_018090,NECAP endocytosis associated 2,263aa) | g.1:16778447C>T,c.604C>T,p.P202S |
| NECAP2(NM_018090,NECAP endocytosis associated 2,263aa) | g.1:16778375C>T,c.532C>T,p.R178W |
| NECAP2(NM_018090,NECAP endocytosis associated 2,263aa) | g.1:16770132C>T,c.98C>T,p.A33V |
| NECAP1(NM_015509,NECAP endocytosis associated 1,275aa) | g.12:8248649A>G,c.791A>G,p.N264S |
| NECAP1(NM_015509,NECAP endocytosis associated 1,275aa) | g.12:8248226C>T,c.706C>T,p.P236S |
| NECAB3(NM_031232,N-terminal EF-hand calcium binding protein 3,396aa) | g.20:32257245G>A,c.323C>T,p.P108L |
| NECAB3(NM_031232,N-terminal EF-hand calcium binding protein 3,396aa) | g.20:32257243C>A,c.325G>T,p.V109L |
| NECAB3(NM_031232,N-terminal EF-hand calcium binding protein 3,396aa) | g.20:32257215C>T,c.353G>A,p.R118H |
| NECAB3(NM_031232,N-terminal EF-hand calcium binding protein 3,396aa) | g.20:32247793C>T,c.541G>A,p.V181M |
| NECAB3(NM_031232,N-terminal EF-hand calcium binding protein 3,396aa) | g.20:32247747C>T,c.587G>A,p.R196Q |
| NECAB3(NM_031232,N-terminal EF-hand calcium binding protein 3,396aa) | g.20:32247536G>A,c.646C>T,p.R216C |
| NECAB3(NM_031232,N-terminal EF-hand calcium binding protein 3,396aa) | g.20:32245789T>C,c.1121A>G,p.H374R |
| NECAB2(NM_019065,N-terminal EF-hand calcium binding protein 2,386aa) | g.16:84035446C>G,c.1057C>G,p.L353V |
| NECAB2(NM_019065,N-terminal EF-hand calcium binding protein 2,386aa) | g.16:84034390G>C,c.1024G>C,p.E342Q |
| NECAB2(NM_019065,N-terminal EF-hand calcium binding protein 2,386aa) | g.16:84031884G>C,c.924G>C,p.Q308H |
| NECAB2(NM_019065,N-terminal EF-hand calcium binding protein 2,386aa) | g.16:84031879C>T,c.919C>T,p.R307C |
| NECAB2(NM_019065,N-terminal EF-hand calcium binding protein 2,386aa) | g.16:84031849G>A,c.889G>A,p.E297K |
| NECAB2(NM_019065,N-terminal EF-hand calcium binding protein 2,386aa) | g.16:84028264G>A,c.766G>A,p.A256T |