基因名 突变
GPATCH8(NM_001002909,G patch domain containing 8,1502aa) g.17:42476575C>T,c.2870G>A,p.R957Q
GPATCH8(NM_001002909,G patch domain containing 8,1502aa) g.17:42476012G>T,c.3433C>A,p.L1145I
GPATCH8(NM_001002909,G patch domain containing 8,1502aa) g.17:42475972T>C,c.3473A>G,p.N1158S
GPATCH8(NM_001002909,G patch domain containing 8,1502aa) g.17:42475962A>C,c.3483T>G,p.C1161W
GPATCH8(NM_001002909,G patch domain containing 8,1502aa) g.17:42475869C>G,c.3576G>C,p.Q1192H
GPATCH8(NM_001002909,G patch domain containing 8,1502aa) g.17:42475670T>C,c.3775A>G,p.S1259G
GPATCH8(NM_001002909,G patch domain containing 8,1502aa) g.17:42475532del,c.3913del,p.1305fs
GPATCH8(NM_001002909,G patch domain containing 8,1502aa) g.17:42475277C>T,c.4168G>A,p.A1390T
GPATCH8(NM_001002909,G patch domain containing 8,1502aa) g.17:42475271C>T,c.4174G>A,p.G1392S
GPATCH4(NM_182679,G patch domain containing 4,370aa) g.1:156568275C>T,c.91G>A,p.G31S
GPATCH4(NM_182679,G patch domain containing 4,370aa) g.1:156567847G>C,c.313C>G,p.L105V
GPATCH4(NM_182679,G patch domain containing 4,370aa) g.1:156566195A>G,c.409T>C,p.S137P
GPATCH4(NM_182679,G patch domain containing 4,370aa) g.1:156565885C>T,c.464G>A,p.R155Q
GPATCH4(NM_182679,G patch domain containing 4,370aa) g.1:156565600C>T,c.518G>A,p.R173H
GPATCH4(NM_182679,G patch domain containing 4,370aa) g.1:156565249C>T,c.869G>A,p.G290E
GPATCH4(NM_182679,G patch domain containing 4,370aa) g.1:156565051G>C,c.1067C>G,p.T356S
GPATCH4(NM_182679,G patch domain containing 4,370aa) g.1:156565050_156565051insCA,c.1067_1068insTG,p.356fs
GPATCH4(NM_182679,G patch domain containing 4,370aa) g.1:156565049A>C,c.1069T>G,p.F357V
GPATCH4(NM_182679,G patch domain containing 4,370aa) g.1:156565049_156565050insAC,c.1068_1069insGT,p.356fs
GPATCH3(NM_022078,G patch domain containing 3,525aa) g.1:27226921C>T,c.13G>A,p.G5S
GPATCH3(NM_022078,G patch domain containing 3,525aa) g.1:27224189C>T,c.479G>A,p.R160Q
GPATCH3(NM_022078,G patch domain containing 3,525aa) g.1:27224093C>G,c.575G>C,p.R192T
GPATCH3(NM_022078,G patch domain containing 3,525aa) g.1:27223995_27223996insG,c.672_673insC,p.224fs
GPATCH3(NM_022078,G patch domain containing 3,525aa) g.1:27223980G>A,c.688C>T,p.R230W
GPATCH3(NM_022078,G patch domain containing 3,525aa) g.1:27223967T>C,c.701A>G,p.N234S
GPATCH3(NM_022078,G patch domain containing 3,525aa) g.1:27220864G>A,c.914C>T,p.A305V
GPATCH3(NM_022078,G patch domain containing 3,525aa) g.1:27220844C>T,c.934G>A,p.G312R
GPATCH3(NM_022078,G patch domain containing 3,525aa) g.1:27219004C>T,c.1259G>A,p.R420Q
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