| 基因名 | 突变 |
|---|---|
| SYTL2(NM_206927,synaptotagmin-like 2,1272aa) | g.11:85436394T>C,c.1106A>G,p.D369G |
| SYTL2(NM_206927,synaptotagmin-like 2,1272aa) | g.11:85436352G>A,c.1148C>T,p.T383M |
| SYTL2(NM_206927,synaptotagmin-like 2,1272aa) | g.11:85435915C>T,c.1585G>A,p.E529K |
| SYTL2(NM_206927,synaptotagmin-like 2,1272aa) | g.11:85435357G>T,c.2143C>A,p.P715T |
| SYTL2(NM_206927,synaptotagmin-like 2,1272aa) | g.11:85435182G>A,c.2318C>T,p.S773L |
| SYTL2(NM_206927,synaptotagmin-like 2,1272aa) | g.11:85431954G>T,c.2474C>A,p.A825D |
| SYTL2(NM_206927,synaptotagmin-like 2,1272aa) | g.11:85431952C>T,c.2476G>A,p.A826T |
| SYTL2(NM_206927,synaptotagmin-like 2,1272aa) | g.11:85431930C>T,c.2498G>A,p.S833N |
| SYTL2(NM_206927,synaptotagmin-like 2,1272aa) | g.11:85428528C>G,c.2627G>C,p.R876T |
| SYTL2(NM_206927,synaptotagmin-like 2,1272aa) | g.11:85425535G>A,c.2645C>T,p.T882I |
| SYTL2(NM_206927,synaptotagmin-like 2,1272aa) | g.11:85420412G>C,c.2976C>G,p.D992E |
| SYTL2(NM_206927,synaptotagmin-like 2,1272aa) | g.11:85420401G>A,c.2987C>T,p.A996V |
| SYTL2(NM_206927,synaptotagmin-like 2,1272aa) | g.11:85415998C>T,c.3191G>A,p.R1064H |
| SYTL2(NM_206927,synaptotagmin-like 2,1272aa) | g.11:85415906G>A,c.3283C>T,p.R1095W |
| SYTL1(NM_001193308,synaptotagmin-like 1,562aa) | g.1:27679962G>A,c.1532G>A,p.R511H |
| SYTL1(NM_001193308,synaptotagmin-like 1,562aa) | g.1:27679827G>A,c.1397G>A,p.R466Q |
| SYTL1(NM_001193308,synaptotagmin-like 1,562aa) | g.1:27679805C>T,c.1375C>T,p.R459C |
| SYTL1(NM_001193308,synaptotagmin-like 1,562aa) | g.1:27679797A>G,c.1367A>G,p.Q456R |
| SYTL1(NM_001193308,synaptotagmin-like 1,562aa) | g.1:27678025C>T,c.1322C>T,p.S441F |
| SYTL1(NM_001193308,synaptotagmin-like 1,562aa) | g.1:27677409G>A,c.1130G>A,p.G377D |
| SYTL1(NM_001193308,synaptotagmin-like 1,562aa) | g.1:27677375G>A,c.1096G>A,p.E366K |
| SYTL1(NM_001193308,synaptotagmin-like 1,562aa) | g.1:27674043G>A,c.323G>A,p.R108K |
| SYT9(NM_175733,synaptotagmin IX,491aa) | g.11:7437285C>G,c.1057C>G,p.L353V |
| SYT9(NM_175733,synaptotagmin IX,491aa) | g.11:7335072G>A,c.944G>A,p.R315H |
| SYT9(NM_175733,synaptotagmin IX,491aa) | g.11:7334771C>T,c.643C>T,p.R215W |
| SYT9(NM_175733,synaptotagmin IX,491aa) | g.11:7324584G>A,c.460G>A,p.V154M |
| SYT9(NM_175733,synaptotagmin IX,491aa) | g.11:7324549C>T,c.425C>T,p.T142M |
| SYT9(NM_175733,synaptotagmin IX,491aa) | g.11:7324459G>A,c.335G>A,p.S112N |