基因名 |
突变 |
SORCS2(NM_020777,sortilin-related VPS10 domain containing receptor 2,1159aa) |
g.4:7663246G>A,c.907G>A,p.A303T |
SORCS1(NM_001206572,sortilin-related VPS10 domain containing receptor 1,1179aa) |
g.10:108924143G>A,c.142C>T,p.R48C |
SORCS1(NM_001206572,sortilin-related VPS10 domain containing receptor 1,1179aa) |
g.10:108923782G>A,c.503C>T,p.T168M |
SORCS1(NM_001206572,sortilin-related VPS10 domain containing receptor 1,1179aa) |
g.10:108469093T>C,c.1031A>G,p.H344R |
SORCS1(NM_001206572,sortilin-related VPS10 domain containing receptor 1,1179aa) |
g.10:108459112C>T,c.1273G>A,p.A425T |
SORCS1(NM_001206572,sortilin-related VPS10 domain containing receptor 1,1179aa) |
g.10:108459034C>T,c.1351G>A,p.A451T |
SORCS1(NM_001206572,sortilin-related VPS10 domain containing receptor 1,1179aa) |
g.10:108447984G>A,c.1526C>T,p.T509M |
SORCS1(NM_001206572,sortilin-related VPS10 domain containing receptor 1,1179aa) |
g.10:108434817G>C,c.1930C>G,p.L644V |
SORCS1(NM_001206572,sortilin-related VPS10 domain containing receptor 1,1179aa) |
g.10:108412249G>T,c.2366C>A,p.P789Q |
SORCS1(NM_001206572,sortilin-related VPS10 domain containing receptor 1,1179aa) |
g.10:108412225G>A,c.2390C>T,p.P797L |
SORCS1(NM_001206572,sortilin-related VPS10 domain containing receptor 1,1179aa) |
g.10:108380217G>C,c.2765C>G,p.T922S |
SORCS1(NM_001206572,sortilin-related VPS10 domain containing receptor 1,1179aa) |
g.10:108371764G>A,c.2938C>T,p.R980C |
SORCS1(NM_001206572,sortilin-related VPS10 domain containing receptor 1,1179aa) |
g.10:108367022C>T,c.3067G>A,p.A1023T |
SORCS1(NM_001206572,sortilin-related VPS10 domain containing receptor 1,1179aa) |
g.10:108357129T>C,c.3245A>G,p.H1082R |
SORCS1(NM_001206572,sortilin-related VPS10 domain containing receptor 1,1179aa) |
g.10:108339146C>T,c.3352G>A,p.V1118I |
SORCS1(NM_001206572,sortilin-related VPS10 domain containing receptor 1,1179aa) |
g.10:108338917T>C,c.3464A>G,p.N1155S |
SORBS3(NM_005775,sorbin and SH3 domain containing 3,671aa) |
g.8:22429858G>A,c.1853G>A,p.R618Q |
SORBS3(NM_005775,sorbin and SH3 domain containing 3,671aa) |
g.8:22428708A>G,c.1717A>G,p.T573A |
SORBS3(NM_005775,sorbin and SH3 domain containing 3,671aa) |
g.8:22428658T>C,c.1667T>C,p.I556T |
SORBS3(NM_005775,sorbin and SH3 domain containing 3,671aa) |
g.8:22428640G>A,c.1649G>A,p.R550H |
SORBS3(NM_005775,sorbin and SH3 domain containing 3,671aa) |
g.8:22428613G>A,c.1622G>A,p.R541H |
SORBS3(NM_005775,sorbin and SH3 domain containing 3,671aa) |
g.8:22428600G>A,c.1609G>A,p.A537T |
SORBS3(NM_005775,sorbin and SH3 domain containing 3,671aa) |
g.8:22428531C>T,c.1540C>T,p.R514C |
SORBS3(NM_005775,sorbin and SH3 domain containing 3,671aa) |
g.8:22428519G>A,c.1528G>A,p.V510M |
SORBS3(NM_005775,sorbin and SH3 domain containing 3,671aa) |
g.8:22426761T>A,c.1406T>A,p.L469Q |
SORBS3(NM_005775,sorbin and SH3 domain containing 3,671aa) |
g.8:22426701C>T,c.1346C>T,p.P449L |
SORBS3(NM_005775,sorbin and SH3 domain containing 3,671aa) |
g.8:22423972C>G,c.1065C>G,p.D355E |
SORBS3(NM_005775,sorbin and SH3 domain containing 3,671aa) |
g.8:22422002G>A,c.784G>A,p.D262N |