基因名 突变
PHF3(NM_015153,PHD finger protein 3,2039aa) g.6:64422505G>A,c.5021G>A,p.R1674Q
PHF3(NM_015153,PHD finger protein 3,2039aa) g.6:64422504C>T,c.5020C>T,p.R1674W
PHF3(NM_015153,PHD finger protein 3,2039aa) g.6:64421939G>C,c.4455G>C,p.Q1485H
PHF3(NM_015153,PHD finger protein 3,2039aa) g.6:64408494A>G,c.2981A>G,p.N994S
PHF3(NM_015153,PHD finger protein 3,2039aa) g.6:64408113G>T,c.2681G>T,p.G894V
PHF3(NM_015153,PHD finger protein 3,2039aa) g.6:64404642G>C,c.2668G>C,p.A890P
PHF3(NM_015153,PHD finger protein 3,2039aa) g.6:64401709G>A,c.2272G>A,p.G758S
PHF3(NM_015153,PHD finger protein 3,2039aa) g.6:64395550G>A,c.1927G>A,p.V643M
PHF3(NM_015153,PHD finger protein 3,2039aa) g.6:64395196G>A,c.1573G>A,p.V525I
PHF3(NM_015153,PHD finger protein 3,2039aa) g.6:64395055G>A,c.1432G>A,p.V478I
PHF3(NM_015153,PHD finger protein 3,2039aa) g.6:64394450G>A,c.827G>A,p.C276Y
PHF3(NM_015153,PHD finger protein 3,2039aa) g.6:64394177T>C,c.554T>C,p.V185A
PHF3(NM_015153,PHD finger protein 3,2039aa) g.6:64394066A>G,c.443A>G,p.K148R
PHF2(NM_005392,PHD finger protein 2,1096aa) g.9:96439102G>T,c.3059G>T,p.S1020I
PHF2(NM_005392,PHD finger protein 2,1096aa) g.9:96439004_96439005insCCTGCCTCCACCACA,c.2961_2962insCCTGCCTCCACCACA,p.987_988ins5aa
PHF2(NM_005392,PHD finger protein 2,1096aa) g.9:96436037G>A,c.2519G>A,p.S840N
PHF2(NM_005392,PHD finger protein 2,1096aa) g.9:96435940G>A,c.2422G>A,p.D808N
PHF2(NM_005392,PHD finger protein 2,1096aa) g.9:96429420G>A,c.2246G>A,p.R749H
PHF2(NM_005392,PHD finger protein 2,1096aa) g.9:96428334G>A,c.2179G>A,p.A727T
PHF2(NM_005392,PHD finger protein 2,1096aa) g.9:96428329C>T,c.2174C>T,p.S725L
PHF2(NM_005392,PHD finger protein 2,1096aa) g.9:96425854C>T,c.1874C>T,p.S625L
PHF2(NM_005392,PHD finger protein 2,1096aa) g.9:96422489G>A,c.1345G>A,p.V449I
PHF2(NM_005392,PHD finger protein 2,1096aa) g.9:96420460A>G,c.1181A>G,p.H394R
PHF2(NM_005392,PHD finger protein 2,1096aa) g.9:96398741A>T,c.233A>T,p.D78V
PHF2(NM_005392,PHD finger protein 2,1096aa) g.9:96398726C>T,c.218C>T,p.P73L
PHF23(NM_024297,PHD finger protein 23,403aa) g.17:7139747C>G,c.499G>C,p.V167L
PHF21B(NM_138415,PHD finger protein 21B,531aa) g.22:45312474C>T,c.250G>A,p.V84I
PHF21B(NM_138415,PHD finger protein 21B,531aa) g.22:45312455C>T,c.269G>A,p.R90Q
注意:这是数据表的摘录,包括在我们的研究中观察到的已发表的多态性位点。 如需完整的变体列表和潜在合作,请联系 huh@cougarlab.org