基因名 突变
SLC4A11(NM_001174090,solute carrier family 4, sodium borate transporter, member 11,918aa) g.20:3210309C>A,c.1732G>T,p.A578S
SLC4A11(NM_001174090,solute carrier family 4, sodium borate transporter, member 11,918aa) g.20:3210212C>T,c.1829G>A,p.G610D
SLC4A11(NM_001174090,solute carrier family 4, sodium borate transporter, member 11,918aa) g.20:3209875del,c.2013del,p.671fs
SLC4A11(NM_001174090,solute carrier family 4, sodium borate transporter, member 11,918aa) g.20:3209539C>T,c.2266G>A,p.V756M
SLC4A11(NM_001174090,solute carrier family 4, sodium borate transporter, member 11,918aa) g.20:3209320C>T,c.2355G>A,p.S785S
SLC4A11(NM_001174090,solute carrier family 4, sodium borate transporter, member 11,918aa) g.20:3209220C>T,c.2455G>A,p.A819T
SLC4A10(NM_001178016,solute carrier family 4, sodium bicarbonate transporter, member 10,1099aa) g.2:162830765C>G,c.3109C>G,p.Q1037E
SLC4A10(NM_001178016,solute carrier family 4, sodium bicarbonate transporter, member 10,1099aa) g.2:162661016G>A,c.221G>A,p.R74Q
SLC4A10(NM_001178016,solute carrier family 4, sodium bicarbonate transporter, member 10,1099aa) g.2:162565325T>G,c.67T>G,p.S23A
SLC47A2(NM_152908,solute carrier family 47 (multidrug and toxin extrusion), member 2,602aa) g.17:19611757G>A,c.595C>T,p.P199S
SLC47A2(NM_152908,solute carrier family 47 (multidrug and toxin extrusion), member 2,602aa) g.17:19611645G>A,c.707C>T,p.A236V
SLC47A2(NM_152908,solute carrier family 47 (multidrug and toxin extrusion), member 2,602aa) g.17:19611139T>C,c.755A>G,p.N252S
SLC47A2(NM_152908,solute carrier family 47 (multidrug and toxin extrusion), member 2,602aa) g.17:19611113C>T,c.781G>A,p.V261I
SLC47A2(NM_152908,solute carrier family 47 (multidrug and toxin extrusion), member 2,602aa) g.17:19584971C>T,c.1285G>A,p.G429R
SLC47A2(NM_152908,solute carrier family 47 (multidrug and toxin extrusion), member 2,602aa) g.17:19584907A>T,c.1349T>A,p.I450N
SLC47A1(NM_018242,solute carrier family 47 (multidrug and toxin extrusion), member 1,570aa) g.17:19476132C>T,c.1444C>T,p.R482W
SLC47A1(NM_018242,solute carrier family 47 (multidrug and toxin extrusion), member 1,570aa) g.17:19476126G>A,c.1438G>A,p.V480M
SLC47A1(NM_018242,solute carrier family 47 (multidrug and toxin extrusion), member 1,570aa) g.17:19476105G>A,c.1417G>A,p.A473T
SLC47A1(NM_018242,solute carrier family 47 (multidrug and toxin extrusion), member 1,570aa) g.17:19474875C>T,c.1394C>T,p.A465V
SLC47A1(NM_018242,solute carrier family 47 (multidrug and toxin extrusion), member 1,570aa) g.17:19470473T>C,c.1241T>C,p.I414T
SLC47A1(NM_018242,solute carrier family 47 (multidrug and toxin extrusion), member 1,570aa) g.17:19463760C>A,c.1060C>A,p.L354M
SLC47A1(NM_018242,solute carrier family 47 (multidrug and toxin extrusion), member 1,570aa) g.17:19463535G>A,c.956G>A,p.R319Q
SLC47A1(NM_018242,solute carrier family 47 (multidrug and toxin extrusion), member 1,570aa) g.17:19459205T>A,c.836T>A,p.V279D
SLC47A1(NM_018242,solute carrier family 47 (multidrug and toxin extrusion), member 1,570aa) g.17:19451364C>T,c.373C>T,p.L125F
SLC47A1(NM_018242,solute carrier family 47 (multidrug and toxin extrusion), member 1,570aa) g.17:19451299C>T,c.308C>T,p.T103M
SLC47A1(NM_018242,solute carrier family 47 (multidrug and toxin extrusion), member 1,570aa) g.17:19445761G>A,c.191G>A,p.G64D
SLC46A3(NM_181785,solute carrier family 46, member 3,461aa) g.13:29292114G>C,c.22C>G,p.P8A
SLC46A3(NM_181785,solute carrier family 46, member 3,461aa) g.13:29292062G>A,c.74C>T,p.T25M
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