| 基因名 | 突变 |
|---|---|
| SORD(NM_003104,sorbitol dehydrogenase,357aa) | g.15:45353366C>G,c.367C>G,p.P123A |
| SORCS3(NM_014978,sortilin-related VPS10 domain containing receptor 3,1222aa) | g.10:107023094G>A,c.3631G>A,p.E1211K |
| SORCS3(NM_014978,sortilin-related VPS10 domain containing receptor 3,1222aa) | g.10:107022241G>A,c.3596G>A,p.R1199Q |
| SORCS3(NM_014978,sortilin-related VPS10 domain containing receptor 3,1222aa) | g.10:107022160G>A,c.3515G>A,p.S1172N |
| SORCS3(NM_014978,sortilin-related VPS10 domain containing receptor 3,1222aa) | g.10:107012569G>A,c.3142G>A,p.V1048M |
| SORCS3(NM_014978,sortilin-related VPS10 domain containing receptor 3,1222aa) | g.10:106974319G>A,c.2495G>A,p.R832Q |
| SORCS3(NM_014978,sortilin-related VPS10 domain containing receptor 3,1222aa) | g.10:106959780G>A,c.2033G>A,p.R678H |
| SORCS3(NM_014978,sortilin-related VPS10 domain containing receptor 3,1222aa) | g.10:106924114G>A,c.1786G>A,p.D596N |
| SORCS3(NM_014978,sortilin-related VPS10 domain containing receptor 3,1222aa) | g.10:106916987G>A,c.1574G>A,p.R525H |
| SORCS3(NM_014978,sortilin-related VPS10 domain containing receptor 3,1222aa) | g.10:106916941G>A,c.1528G>A,p.D510N |
| SORCS3(NM_014978,sortilin-related VPS10 domain containing receptor 3,1222aa) | g.10:106916905A>T,c.1492A>T,p.I498F |
| SORCS3(NM_014978,sortilin-related VPS10 domain containing receptor 3,1222aa) | g.10:106849589C>T,c.1085C>T,p.T362M |
| SORCS3(NM_014978,sortilin-related VPS10 domain containing receptor 3,1222aa) | g.10:106737171C>T,c.874C>T,p.R292W |
| SORCS3(NM_014978,sortilin-related VPS10 domain containing receptor 3,1222aa) | g.10:106401414C>T,c.329C>T,p.P110L |
| SORCS3(NM_014978,sortilin-related VPS10 domain containing receptor 3,1222aa) | g.10:106401380G>A,c.295G>A,p.G99S |
| SORCS2(NM_020777,sortilin-related VPS10 domain containing receptor 2,1159aa) | g.4:7731389C>T,c.3058C>T,p.L1020F |
| SORCS2(NM_020777,sortilin-related VPS10 domain containing receptor 2,1159aa) | g.4:7730137C>A,c.2930C>A,p.T977N |
| SORCS2(NM_020777,sortilin-related VPS10 domain containing receptor 2,1159aa) | g.4:7728622G>A,c.2861G>A,p.R954H |
| SORCS2(NM_020777,sortilin-related VPS10 domain containing receptor 2,1159aa) | g.4:7725553G>A,c.2554G>A,p.V852I |
| SORCS2(NM_020777,sortilin-related VPS10 domain containing receptor 2,1159aa) | g.4:7725526G>A,c.2527G>A,p.E843K |
| SORCS2(NM_020777,sortilin-related VPS10 domain containing receptor 2,1159aa) | g.4:7716932T>C,c.2146T>C,p.S716P |
| SORCS2(NM_020777,sortilin-related VPS10 domain containing receptor 2,1159aa) | g.4:7716061C>T,c.2084C>T,p.T695M |
| SORCS2(NM_020777,sortilin-related VPS10 domain containing receptor 2,1159aa) | g.4:7716019C>T,c.2042C>T,p.T681M |
| SORCS2(NM_020777,sortilin-related VPS10 domain containing receptor 2,1159aa) | g.4:7698969A>G,c.1636A>G,p.I546V |
| SORCS2(NM_020777,sortilin-related VPS10 domain containing receptor 2,1159aa) | g.4:7691291G>A,c.1567G>A,p.A523T |
| SORCS2(NM_020777,sortilin-related VPS10 domain containing receptor 2,1159aa) | g.4:7684579G>T,c.1451G>T,p.S484I |
| SORCS2(NM_020777,sortilin-related VPS10 domain containing receptor 2,1159aa) | g.4:7666180C>A,c.1053C>A,p.D351E |
| SORCS2(NM_020777,sortilin-related VPS10 domain containing receptor 2,1159aa) | g.4:7666160G>A,c.1033G>A,p.G345R |