基因名 |
突变 |
UNKL(NM_001193388,unkempt homolog (Drosophila)-like,683aa) |
g.16:1417818C>T,c.1627G>A,p.G543S |
UNKL(NM_001193388,unkempt homolog (Drosophila)-like,683aa) |
g.16:1417791T>C,c.1654A>G,p.I552V |
UNKL(NM_001193388,unkempt homolog (Drosophila)-like,683aa) |
g.16:1417718T>C,c.1727A>G,p.Q576R |
UNKL(NM_001193388,unkempt homolog (Drosophila)-like,683aa) |
g.16:1416381G>A,c.1912C>T,p.R638C |
UNG(NM_003362,uracil-DNA glycosylase,304aa) |
g.12:109536366C>T,c.235C>T,p.R79C |
UNCX(NM_001080461,UNC homeobox,531aa) |
g.7:1275661A>G,c.644A>G,p.Q215R |
UNC93A(NM_018974,unc-93 homolog A (C. elegans),457aa) |
g.6:167728815G>A,c.1249G>A,p.V417I |
UNC93A(NM_018974,unc-93 homolog A (C. elegans),457aa) |
g.6:167728791G>A,c.1225G>A,p.V409I |
UNC93A(NM_018974,unc-93 homolog A (C. elegans),457aa) |
g.6:167728776T>C,c.1210T>C,p.F404L |
UNC93A(NM_018974,unc-93 homolog A (C. elegans),457aa) |
g.6:167728775G>A,c.1209G>A,p.M403I |
UNC93A(NM_018974,unc-93 homolog A (C. elegans),457aa) |
g.6:167728774T>C,c.1208T>C,p.M403T |
UNC93A(NM_018974,unc-93 homolog A (C. elegans),457aa) |
g.6:167728774_167728775TG>CA,c.1208_1209TG>CA,p.M403T |
UNC93A(NM_018974,unc-93 homolog A (C. elegans),457aa) |
g.6:167728741C>T,c.1175C>T,p.A392V |
UNC93A(NM_018974,unc-93 homolog A (C. elegans),457aa) |
g.6:167721365G>A,c.1075G>A,p.V359M |
UNC93A(NM_018974,unc-93 homolog A (C. elegans),457aa) |
g.6:167721344G>A,c.1054G>A,p.V352I |
UNC93A(NM_018974,unc-93 homolog A (C. elegans),457aa) |
g.6:167721270C>T,c.980C>T,p.A327V |
UNC93A(NM_018974,unc-93 homolog A (C. elegans),457aa) |
g.6:167719503C>T,c.941C>T,p.S314L |
UNC93A(NM_018974,unc-93 homolog A (C. elegans),457aa) |
g.6:167719445G>A,c.883G>A,p.V295M |
UNC93A(NM_018974,unc-93 homolog A (C. elegans),457aa) |
g.6:167719436G>A,c.874G>A,p.V292I |
UNC93A(NM_018974,unc-93 homolog A (C. elegans),457aa) |
g.6:167717470G>A,c.689G>A,p.R230Q |
UNC93A(NM_018974,unc-93 homolog A (C. elegans),457aa) |
g.6:167717457C>T,c.676C>T,p.R226X |
UNC93A(NM_018974,unc-93 homolog A (C. elegans),457aa) |
g.6:167717451C>T,c.670C>T,p.P224S |
UNC93A(NM_018974,unc-93 homolog A (C. elegans),457aa) |
g.6:167717440C>T,c.659C>T,p.A220V |
UNC93A(NM_018974,unc-93 homolog A (C. elegans),457aa) |
g.6:167711559G>C,c.625+1G>C,p.209Donor |
UNC93A(NM_018974,unc-93 homolog A (C. elegans),457aa) |
g.6:167709745C>A,c.495C>A,p.S165R |
UNC93A(NM_018974,unc-93 homolog A (C. elegans),457aa) |
g.6:167709705G>A,c.455G>A,p.G152D |
UNC93A(NM_018974,unc-93 homolog A (C. elegans),457aa) |
g.6:167709702G>A,c.452G>A,p.W151X |
UNC93A(NM_018974,unc-93 homolog A (C. elegans),457aa) |
g.6:167709563G>A,c.313G>A,p.A105T |