| 基因名 | 突变 |
|---|---|
| KHNYN(NM_015299,KH and NYN domain containing,678aa) | g.14:24901249A>C,c.782A>C,p.K261T |
| KHK(NM_006488,ketohexokinase (fructokinase),298aa) | g.2:27322424G>A,c.790G>A,p.V264I |
| KHK(NM_006488,ketohexokinase (fructokinase),298aa) | g.2:27322325G>A,c.691G>A,p.D231N |
| KHK(NM_006488,ketohexokinase (fructokinase),298aa) | g.2:27322140G>A,c.641G>A,p.R214H |
| KHK(NM_006488,ketohexokinase (fructokinase),298aa) | g.2:27320515G>A,c.562G>A,p.V188M |
| KHK(NM_006488,ketohexokinase (fructokinase),298aa) | g.2:27320480G>A,c.527G>A,p.R176Q |
| KHK(NM_006488,ketohexokinase (fructokinase),298aa) | g.2:27320453G>T,c.500G>T,p.R167L |
| KHK(NM_006488,ketohexokinase (fructokinase),298aa) | g.2:27317694G>A,c.236G>A,p.R79Q |
| KHK(NM_006488,ketohexokinase (fructokinase),298aa) | g.2:27317693C>T,c.235C>T,p.R79W |
| KHK(NM_006488,ketohexokinase (fructokinase),298aa) | g.2:27317690C>T,c.232C>T,p.R78W |
| KHK(NM_006488,ketohexokinase (fructokinase),298aa) | g.2:27315252G>A,c.145G>A,p.V49I |
| KHDRBS3(NM_006558,KH domain containing, RNA binding, signal transduction associated 3,346aa) | g.8:136657324G>A,c.913G>A,p.G305R |
| KHDRBS3(NM_006558,KH domain containing, RNA binding, signal transduction associated 3,346aa) | g.8:136594306A>G,c.797A>G,p.Y266C |
| KHDRBS2(NM_152688,KH domain containing, RNA binding, signal transduction associated 2,349aa) | g.6:62887200C>T,c.109G>A,p.G37S |
| KHDRBS2(NM_152688,KH domain containing, RNA binding, signal transduction associated 2,349aa) | g.6:62611203C>T,c.557G>A,p.R186H |
| KHDRBS2(NM_152688,KH domain containing, RNA binding, signal transduction associated 2,349aa) | g.6:62604685G>A,c.665C>T,p.T222I |
| KHDRBS2(NM_152688,KH domain containing, RNA binding, signal transduction associated 2,349aa) | g.6:62604661C>T,c.689G>A,p.R230H |
| KHDRBS2(NM_152688,KH domain containing, RNA binding, signal transduction associated 2,349aa) | g.6:62604655G>A,c.695C>T,p.A232V |
| KHDRBS2(NM_152688,KH domain containing, RNA binding, signal transduction associated 2,349aa) | g.6:62604613C>T,c.737G>A,p.R246Q |
| KHDRBS2(NM_152688,KH domain containing, RNA binding, signal transduction associated 2,349aa) | g.6:62407138T>C,c.914A>G,p.Y305C |
| KHDRBS2(NM_152688,KH domain containing, RNA binding, signal transduction associated 2,349aa) | g.6:62407136C>T,c.916G>A,p.G306S |
| KHDRBS2(NM_152688,KH domain containing, RNA binding, signal transduction associated 2,349aa) | g.6:62390920G>A,c.998C>T,p.P333L |
| KHDRBS1(NM_006559,KH domain containing, RNA binding, signal transduction associated 1,443aa) | g.1:32502590G>A,c.851G>A,p.R284H |
| KHDRBS1(NM_006559,KH domain containing, RNA binding, signal transduction associated 1,443aa) | g.1:32479669G>A,c.73G>A,p.G25S |
| KHDC3L(NM_001017361,KH domain containing 3-like, subcortical maternal complex member,217aa) | g.6:74073543G>A,c.614G>A,p.R205Q |
| KHDC3L(NM_001017361,KH domain containing 3-like, subcortical maternal complex member,217aa) | g.6:74073531C>G,c.602C>G,p.A201G |
| KHDC3L(NM_001017361,KH domain containing 3-like, subcortical maternal complex member,217aa) | g.6:74072937G>C,c.289G>C,p.E97Q |
| KHDC3L(NM_001017361,KH domain containing 3-like, subcortical maternal complex member,217aa) | g.6:74072893A>T,c.245A>T,p.N82I |