| 基因名 | 突变 |
|---|---|
| SOS2(NM_006939,son of sevenless homolog 2 (Drosophila),1332aa) | g.14:50585109G>A,c.3952C>T,p.P1318S |
| SOS1(NM_005633,son of sevenless homolog 1 (Drosophila),1333aa) | g.2:39294873T>C,c.109A>G,p.T37A |
| SOS1(NM_005633,son of sevenless homolog 1 (Drosophila),1333aa) | g.2:39281922T>C,c.553A>G,p.I185V |
| SOS1(NM_005633,son of sevenless homolog 1 (Drosophila),1333aa) | g.2:39281888G>A,c.587C>T,p.S196L |
| SOS1(NM_005633,son of sevenless homolog 1 (Drosophila),1333aa) | g.2:39262409G>A,c.1018C>T,p.P340S |
| SOS1(NM_005633,son of sevenless homolog 1 (Drosophila),1333aa) | g.2:39241976_39241977insA,c.1869_1870insT,p.623fs |
| SOS1(NM_005633,son of sevenless homolog 1 (Drosophila),1333aa) | g.2:39241107G>A,c.1964C>T,p.P655L |
| SOS1(NM_005633,son of sevenless homolog 1 (Drosophila),1333aa) | g.2:39241061C>G,c.2010G>C,p.L670F |
| SOS1(NM_005633,son of sevenless homolog 1 (Drosophila),1333aa) | g.2:39239286G>T,c.2371C>A,p.L791I |
| SOS1(NM_005633,son of sevenless homolog 1 (Drosophila),1333aa) | g.2:39224112T>C,c.3032A>G,p.N1011S |
| SOS1(NM_005633,son of sevenless homolog 1 (Drosophila),1333aa) | g.2:39213150G>C,c.3817C>G,p.L1273V |
| SOS1(NM_005633,son of sevenless homolog 1 (Drosophila),1333aa) | g.2:39213075T>C,c.3892A>G,p.T1298A |
| SORT1(NM_002959,sortilin 1,831aa) | g.1:109910100T>C,c.370A>G,p.I124V |
| SORT1(NM_002959,sortilin 1,831aa) | g.1:109888432T>C,c.904A>G,p.K302E |
| SORT1(NM_002959,sortilin 1,831aa) | g.1:109884672C>A,c.1072G>T,p.D358Y |
| SORT1(NM_002959,sortilin 1,831aa) | g.1:109883373C>T,c.1237G>A,p.V413I |
| SORT1(NM_002959,sortilin 1,831aa) | g.1:109878903C>G,c.1330G>C,p.E444Q |
| SORT1(NM_002959,sortilin 1,831aa) | g.1:109878893T>C,c.1340A>G,p.E447G |
| SORT1(NM_002959,sortilin 1,831aa) | g.1:109869632C>T,c.1625G>A,p.R542H |
| SORT1(NM_002959,sortilin 1,831aa) | g.1:109865630C>T,c.1948G>A,p.V650M |
| SORT1(NM_002959,sortilin 1,831aa) | g.1:109859485C>T,c.2237G>A,p.S746N |
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121498285A>G,c.6386A>G,p.Q2129R |
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121495911G>A,c.6289G>A,p.V2097I |
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121495903C>T,c.6281C>T,p.T2094M |
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121495846G>C,c.6224G>C,p.G2075A |
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121495816A>T,c.6194A>T,p.D2065V |
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121491782G>A,c.5899G>A,p.V1967I |
| SORL1(NM_003105,sortilin-related receptor, L(DLR class) A repeats containing,2214aa) | g.11:121485599T>A,c.5439T>A,p.H1813Q |