| 基因名 | 突变 |
|---|---|
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121474952G>A,c.4570G>A,p.G1524R |
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121466430C>T,c.4468C>T,p.R1490C |
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121466410C>T,c.4448C>T,p.T1483M |
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121466409A>G,c.4447A>G,p.T1483A |
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121461856C>T,c.4360C>T,p.P1454S |
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121461799A>T,c.4303A>T,p.T1435S |
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121458843C>T,c.3929C>T,p.A1310V |
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121457029C>G,c.3805C>G,p.Q1269E |
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121456951C>T,c.3727C>T,p.R1243C |
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121448090T>G,c.3561T>G,p.S1187S |
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121444958A>G,c.3346A>G,p.I1116V |
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121440937T>C,c.3295T>C,p.F1099L |
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121437819C>G,c.3220C>G,p.Q1074E |
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121437764C>G,c.3165C>G,p.D1055E |
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121425939A>G,c.2483A>G,p.N828S |
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121421361G>A,c.2248G>A,p.V750I |
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121416093C>T,c.2006C>T,p.P669L |
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121416003G>T,c.1916G>T,p.R639L |
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121415958C>T,c.1871C>T,p.P624L |
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121393684G>A,c.1582G>A,p.A528T |
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121393649G>A,c.1547G>A,p.S516N |
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121391551A>G,c.1397A>G,p.N466S |
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121384931A>C,c.1112A>C,p.N371T |
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121348842G>A,c.418G>A,p.D140N |
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121323267C>T,c.227C>T,p.P76L |
| SORD(NM_003104,sorbitol dehydrogenase,357aa) | g.15:45365724C>T,c.1070C>T,p.P357L |
| SORD(NM_003104,sorbitol dehydrogenase,357aa) | g.15:45361217del,c.753del,p.251fs |
| SORD(NM_003104,sorbitol dehydrogenase,357aa) | g.15:45361180A>T,c.716A>T,p.Q239L |