| 基因名 | 突变 |
|---|---|
| JAG1(NM_000214,jagged 1,1218aa) | g.20:10622501G>C,c.2612C>G,p.P871R |
| JAG1(NM_000214,jagged 1,1218aa) | g.20:10622214C>T,c.2810G>A,p.R937Q |
| JAG1(NM_000214,jagged 1,1218aa) | g.20:10621808C>T,c.3001G>A,p.A1001T |
| JAG1(NM_000214,jagged 1,1218aa) | g.20:10620474T>G,c.3329A>C,p.N1110T |
| IZUMO4(NM_001039846,IZUMO family member 4,232aa) | g.19:2099330C>T,c.685C>T,p.L229F |
| IZUMO4(NM_001039846,IZUMO family member 4,232aa) | g.19:2099012A>G,c.592A>G,p.R198G |
| IZUMO4(NM_001039846,IZUMO family member 4,232aa) | g.19:2098794C>T,c.545C>T,p.T182M |
| IZUMO4(NM_001039846,IZUMO family member 4,232aa) | g.19:2098291C>T,c.479C>T,p.S160L |
| IZUMO4(NM_001039846,IZUMO family member 4,232aa) | g.19:2098063A>T,c.410A>T,p.Y137F |
| IZUMO4(NM_001039846,IZUMO family member 4,232aa) | g.19:2097948C>T,c.391C>T,p.R131C |
| IZUMO4(NM_001039846,IZUMO family member 4,232aa) | g.19:2097048A>G,c.104A>G,p.H35R |
| IZUMO3(NM_001271706,IZUMO family member 3,233aa) | g.9:24543744G>T,c.481C>A,p.P161T |
| IZUMO3(NM_001271706,IZUMO family member 3,233aa) | g.9:24543732C>T,c.493G>A,p.E165K |
| IZUMO2(NM_152358,IZUMO family member 2,221aa) | g.19:50666375G>A,c.77C>T,p.P26L |
| IZUMO2(NM_152358,IZUMO family member 2,221aa) | g.19:50666235A>T,c.217T>A,p.F73I |
| IZUMO2(NM_152358,IZUMO family member 2,221aa) | g.19:50662487G>A,c.415C>T,p.R139C |
| IZUMO2(NM_152358,IZUMO family member 2,221aa) | g.19:50657969G>A,c.511C>T,p.R171C |
| IZUMO2(NM_152358,IZUMO family member 2,221aa) | g.19:50657864C>T,c.616G>A,p.V206M |
| IZUMO1(NM_182575,izumo sperm-egg fusion 1,350aa) | g.19:49248930C>T,c.187G>A,p.D63N |
| IZUMO1(NM_182575,izumo sperm-egg fusion 1,350aa) | g.19:49246722C>T,c.479G>A,p.R160Q |
| IZUMO1(NM_182575,izumo sperm-egg fusion 1,350aa) | g.19:49245563C>T,c.503G>A,p.R168Q |
| IZUMO1(NM_182575,izumo sperm-egg fusion 1,350aa) | g.19:49245056del,c.744del,p.248fs |
| IZUMO1(NM_182575,izumo sperm-egg fusion 1,350aa) | g.19:49244220G>A,c.998C>T,p.A333V |
| IYD(NM_001164694,iodotyrosine deiodinase,293aa) | g.6:150716697G>A,c.794G>A,p.C265Y |
| IYD(NM_001164694,iodotyrosine deiodinase,293aa) | g.6:150716696T>C,c.793T>C,p.C265R |
| IYD(NM_001164694,iodotyrosine deiodinase,293aa) | g.6:150715308G>A,c.604G>A,p.A202T |
| IYD(NM_001164694,iodotyrosine deiodinase,293aa) | g.6:150715260G>C,c.556G>C,p.D186H |
| IYD(NM_001164694,iodotyrosine deiodinase,293aa) | g.6:150710632A>G,c.323A>G,p.N108S |