基因名 突变
GPATCH1(NM_018025,G patch domain containing 1,931aa) g.19:33584416C>T,c.446C>T,p.T149M
GPATCH11(NM_174931,G patch domain containing 11,285aa) g.2:37321308T>A,c.690T>A,p.D230E
GPATCH11(NM_174931,G patch domain containing 11,285aa) g.2:37321293A>T,c.675A>T,p.E225D
GPATCH11(NM_174931,G patch domain containing 11,285aa) g.2:37319370G>A,c.578G>A,p.R193Q
GPATCH11(NM_174931,G patch domain containing 11,285aa) g.2:37319313G>A,c.521G>A,p.R174Q
GPATCH11(NM_174931,G patch domain containing 11,285aa) g.2:37319156A>C,c.492A>C,p.E164D
GPATCH11(NM_174931,G patch domain containing 11,285aa) g.2:37319135T>G,c.471T>G,p.I157M
GPATCH11(NM_174931,G patch domain containing 11,285aa) g.2:37319094C>T,c.430C>T,p.R144W
GPAT2(NM_207328,glycerol-3-phosphate acyltransferase 2, mitochondrial,795aa) g.2:96697816C>T,c.142G>A,p.G48S
GPAT2(NM_207328,glycerol-3-phosphate acyltransferase 2, mitochondrial,795aa) g.2:96690340G>A,c.1504C>T,p.R502W
GPAT2(NM_207328,glycerol-3-phosphate acyltransferase 2, mitochondrial,795aa) g.2:96690286G>A,c.1558C>T,p.R520C
GPAT2(NM_207328,glycerol-3-phosphate acyltransferase 2, mitochondrial,795aa) g.2:96689178G>A,c.1907C>T,p.S636F
GPAT2(NM_207328,glycerol-3-phosphate acyltransferase 2, mitochondrial,795aa) g.2:96689176G>A,c.1909C>T,p.R637W
GPAT2(NM_207328,glycerol-3-phosphate acyltransferase 2, mitochondrial,795aa) g.2:96688929G>A,c.2074C>T,p.R692C
GPANK1(NM_001199237,G patch domain and ankyrin repeats 1,356aa) g.6:31632134C>A,c.122G>T,p.R41L
GPANK1(NM_001199237,G patch domain and ankyrin repeats 1,356aa) g.6:31632113A>G,c.143T>C,p.I48T
GPANK1(NM_001199237,G patch domain and ankyrin repeats 1,356aa) g.6:31631921G>A,c.335C>T,p.A112V
GPANK1(NM_001199237,G patch domain and ankyrin repeats 1,356aa) g.6:31630410G>A,c.704C>T,p.A235V
GPANK1(NM_001199237,G patch domain and ankyrin repeats 1,356aa) g.6:31630318C>T,c.796G>A,p.G266R
GPANK1(NM_001199237,G patch domain and ankyrin repeats 1,356aa) g.6:31630318C>G,c.796G>C,p.G266R
GPANK1(NM_001199237,G patch domain and ankyrin repeats 1,356aa) g.6:31630153C>T,c.961G>A,p.E321K
GPANK1(NM_001199237,G patch domain and ankyrin repeats 1,356aa) g.6:31630108T>C,c.1006A>G,p.R336G
GPAM(NM_001244949,glycerol-3-phosphate acyltransferase, mitochondrial,828aa) g.10:113941538T>C,c.5A>G,p.D2G
GPAM(NM_001244949,glycerol-3-phosphate acyltransferase, mitochondrial,828aa) g.10:113941512T>C,c.31A>G,p.I11V
GPAM(NM_001244949,glycerol-3-phosphate acyltransferase, mitochondrial,828aa) g.10:113940329T>C,c.127A>G,p.I43V
GPAM(NM_001244949,glycerol-3-phosphate acyltransferase, mitochondrial,828aa) g.10:113940289A>T,c.167T>A,p.M56K
GPAM(NM_001244949,glycerol-3-phosphate acyltransferase, mitochondrial,828aa) g.10:113935437C>T,c.334G>A,p.V112I
GPAM(NM_001244949,glycerol-3-phosphate acyltransferase, mitochondrial,828aa) g.10:113935379T>C,c.392A>G,p.E131G
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