Genename Variants
DGKD(NM_152879,diacylglycerol kinase, delta 130kDa,1214aa) g.2:234355402C>T,c.1379C>T,p.S460F
DGKD(NM_152879,diacylglycerol kinase, delta 130kDa,1214aa) g.2:234355365G>A,c.1342G>A,p.V448I
DGKD(NM_152879,diacylglycerol kinase, delta 130kDa,1214aa) g.2:234345016A>G,c.748A>G,p.T250A
DGKB(NM_004080,diacylglycerol kinase, beta 90kDa,804aa) g.7:14880830T>A,c.59A>T,p.K20I
DGKB(NM_004080,diacylglycerol kinase, beta 90kDa,804aa) g.7:14669895T>A,c.1136A>T,p.Q379L
DGKB(NM_004080,diacylglycerol kinase, beta 90kDa,804aa) g.7:14378211C>A,c.2054G>T,p.R685L
DGKB(NM_004080,diacylglycerol kinase, beta 90kDa,804aa) g.7:14188806C>T,c.2365G>A,p.G789S
DGKA(NM_201444,diacylglycerol kinase, alpha 80kDa,735aa) g.12:56346836A>C,c.1955A>C,p.K652T
DGKA(NM_201444,diacylglycerol kinase, alpha 80kDa,735aa) g.12:56345541A>G,c.1561A>G,p.I521V
DGKA(NM_201444,diacylglycerol kinase, alpha 80kDa,735aa) g.12:56335341A>G,c.1223A>G,p.N408S
DGKA(NM_201444,diacylglycerol kinase, alpha 80kDa,735aa) g.12:56334185A>G,c.886A>G,p.T296A
DGKA(NM_201444,diacylglycerol kinase, alpha 80kDa,735aa) g.12:56332709A>G,c.410A>G,p.K137R
DGKA(NM_201444,diacylglycerol kinase, alpha 80kDa,735aa) g.12:56332316C>T,c.371C>T,p.T124M
DGCR8(NM_022720,DGCR8 microprocessor complex subunit,773aa) g.22:20082293A>G,c.1763A>G,p.K588R
DGCR8(NM_022720,DGCR8 microprocessor complex subunit,773aa) g.22:20077575G>A,c.1100G>A,p.S367N
DGCR8(NM_022720,DGCR8 microprocessor complex subunit,773aa) g.22:20074090T>G,c.604T>G,p.L202V
DGCR8(NM_022720,DGCR8 microprocessor complex subunit,773aa) g.22:20074006A>G,c.520A>G,p.I174V
DGCR8(NM_022720,DGCR8 microprocessor complex subunit,773aa) g.22:20073919C>T,c.433C>T,p.R145W
DGCR8(NM_022720,DGCR8 microprocessor complex subunit,773aa) g.22:20073773C>T,c.287C>T,p.P96L
DGCR6(NM_005675,DiGeorge syndrome critical region gene 6,220aa) g.22:18899113T>C,c.574T>C,p.W192R
DGCR6(NM_005675,DiGeorge syndrome critical region gene 6,220aa) g.22:18899090G>A,c.551G>A,p.R184Q
DGCR6(NM_005675,DiGeorge syndrome critical region gene 6,220aa) g.22:18898468G>A,c.440G>A,p.R147Q
DGCR6(NM_005675,DiGeorge syndrome critical region gene 6,220aa) g.22:18898452G>A,c.424G>A,p.V142I
DGCR6(NM_005675,DiGeorge syndrome critical region gene 6,220aa) g.22:18898431C>T,c.403C>T,p.R135W
DGCR6(NM_005675,DiGeorge syndrome critical region gene 6,220aa) g.22:18898420G>A,c.392G>A,p.R131H
DGCR6(NM_005675,DiGeorge syndrome critical region gene 6,220aa) g.22:18897756C>G,c.343C>G,p.L115V
DGCR6(NM_005675,DiGeorge syndrome critical region gene 6,220aa) g.22:18897756C>A,c.343C>A,p.L115I
DGCR6L(NM_033257,DiGeorge syndrome critical region gene 6-like,220aa) g.22:20303664G>A,c.350C>T,p.A117V
This is an excerpt of data-sheet including the published polymorphism sites observed in our studies. For the complete variant lists and potential collaboration, please contact huh@cougarlab.org