| 基因名 | 突变 |
|---|---|
| KDM2B(NM_032590,lysine (K)-specific demethylase 2B,1336aa) | g.12:121947587G>A,c.1430C>T,p.S477L |
| KDM2B(NM_032590,lysine (K)-specific demethylase 2B,1336aa) | g.12:121947555C>T,c.1462G>A,p.V488I |
| KDM2B(NM_032590,lysine (K)-specific demethylase 2B,1336aa) | g.12:121932450C>T,c.1666G>A,p.A556T |
| KDM2B(NM_032590,lysine (K)-specific demethylase 2B,1336aa) | g.12:121881950C>G,c.2316G>C,p.E772D |
| KDM2B(NM_032590,lysine (K)-specific demethylase 2B,1336aa) | g.12:121880564C>T,c.2680G>A,p.E894K |
| KDM2B(NM_032590,lysine (K)-specific demethylase 2B,1336aa) | g.12:121878702C>T,c.3527G>A,p.R1176Q |
| KDM2B(NM_032590,lysine (K)-specific demethylase 2B,1336aa) | g.12:121877738C>T,c.3751G>A,p.V1251I |
| KDM1B(NM_153042,lysine (K)-specific demethylase 1B,590aa) | g.6:18212794A>T,c.1246A>T,p.M416L |
| KDM1B(NM_153042,lysine (K)-specific demethylase 1B,590aa) | g.6:18208421G>T,c.1154G>T,p.G385V |
| KDM1B(NM_153042,lysine (K)-specific demethylase 1B,590aa) | g.6:18208415G>A,c.1148G>A,p.G383D |
| KDM1B(NM_153042,lysine (K)-specific demethylase 1B,590aa) | g.6:18197821T>C,c.754T>C,p.S252P |
| KDM1B(NM_153042,lysine (K)-specific demethylase 1B,590aa) | g.6:18171661A>C,c.485A>C,p.Q162P |
| KDM1B(NM_153042,lysine (K)-specific demethylase 1B,590aa) | g.6:18161646C>T,c.176C>T,p.T59M |
| KDM1B(NM_153042,lysine (K)-specific demethylase 1B,590aa) | g.6:18161574C>T,c.104C>T,p.T35I |
| KDM1B(NM_153042,lysine (K)-specific demethylase 1B,590aa) | g.6:18160172C>T,c.46C>T,p.H16Y |
| KDM1A(NM_001009999,lysine (K)-specific demethylase 1A,876aa) | g.1:23346225G>A,c.136G>A,p.G46S |
| KDELR3(NM_006855,KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3,214aa) | g.22:38877470G>C,c.604+1G>C,p.202Donor |
| KDELR3(NM_006855,KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3,214aa) | g.22:38877461T>G,c.596T>G,p.V199G |
| KDELR3(NM_006855,KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3,214aa) | g.22:38877304A>G,c.439A>G,p.I147V |
| KDELR3(NM_006855,KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3,214aa) | g.22:38877251T>G,c.386T>G,p.V129G |
| KDELR3(NM_006855,KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3,214aa) | g.22:38875653G>A,c.248G>A,p.R83H |
| KDELR3(NM_006855,KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3,214aa) | g.22:38875632A>G,c.227A>G,p.Y76C |
| KDELR2(NM_006854,KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2,212aa) | g.7:6509297C>T,c.281G>A,p.R94Q |
| KDELR2(NM_006854,KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2,212aa) | g.7:6505950A>G,c.356T>C,p.L119P |
| KDELC2(NM_153705,KDEL (Lys-Asp-Glu-Leu) containing 2,507aa) | g.11:108357137G>A,c.431C>T,p.P144L |
| KDELC2(NM_153705,KDEL (Lys-Asp-Glu-Leu) containing 2,507aa) | g.11:108356978G>A,c.590C>T,p.T197M |
| KDELC2(NM_153705,KDEL (Lys-Asp-Glu-Leu) containing 2,507aa) | g.11:108352891C>T,c.743G>A,p.R248Q |
| KDELC2(NM_153705,KDEL (Lys-Asp-Glu-Leu) containing 2,507aa) | g.11:108352754G>A,c.880C>T,p.L294F |