| 基因名 | 突变 |
|---|---|
| CNTN2(NM_005076,contactin 2 (axonal),1040aa) | g.1:205033819C>T,c.1460C>T,p.T487I |
| CNTN2(NM_005076,contactin 2 (axonal),1040aa) | g.1:205033797C>T,c.1438C>T,p.R480W |
| CNTN2(NM_005076,contactin 2 (axonal),1040aa) | g.1:205033764C>A,c.1405C>A,p.P469T |
| CNTN2(NM_005076,contactin 2 (axonal),1040aa) | g.1:205033518C>G,c.1309C>G,p.L437V |
| CNTN2(NM_005076,contactin 2 (axonal),1040aa) | g.1:205031116C>T,c.1097C>T,p.P366L |
| CNTN2(NM_005076,contactin 2 (axonal),1040aa) | g.1:205031094C>A,c.1075C>A,p.R359S |
| CNTN2(NM_005076,contactin 2 (axonal),1040aa) | g.1:205030522C>T,c.947C>T,p.T316I |
| CNTN2(NM_005076,contactin 2 (axonal),1040aa) | g.1:205030516G>T,c.941G>T,p.R314L |
| CNTN2(NM_005076,contactin 2 (axonal),1040aa) | g.1:205030396G>A,c.821G>A,p.R274H |
| CNTN2(NM_005076,contactin 2 (axonal),1040aa) | g.1:205028717G>A,c.704G>A,p.R235Q |
| CNTN2(NM_005076,contactin 2 (axonal),1040aa) | g.1:205028229C>T,c.505C>T,p.L169F |
| CNTN2(NM_005076,contactin 2 (axonal),1040aa) | g.1:205027737G>A,c.433G>A,p.A145T |
| CNTN1(NM_001843,contactin 1,1018aa) | g.12:41421733G>A,c.2785G>A,p.V929I |
| CNTN1(NM_001843,contactin 1,1018aa) | g.12:41419033G>A,c.2605G>A,p.E869K |
| CNTN1(NM_001843,contactin 1,1018aa) | g.12:41410623G>A,c.2324G>A,p.S775N |
| CNTN1(NM_001843,contactin 1,1018aa) | g.12:41374783G>A,c.1877G>A,p.R626H |
| CNTN1(NM_001843,contactin 1,1018aa) | g.12:41352977C>T,c.1745C>T,p.T582I |
| CNTN1(NM_001843,contactin 1,1018aa) | g.12:41337503G>A,c.1484G>A,p.S495N |
| CNTN1(NM_001843,contactin 1,1018aa) | g.12:41330610A>G,c.1013A>G,p.N338S |
| CNTN1(NM_001843,contactin 1,1018aa) | g.12:41327516G>A,c.821G>A,p.R274Q |
| CNTLN(NM_017738,centlein, centrosomal protein,1406aa) | g.9:17486992T>G,c.4047T>G,p.I1349M |
| CNTLN(NM_017738,centlein, centrosomal protein,1406aa) | g.9:17464622G>A,c.3531+1G>A,p.1177Donor |
| CNTLN(NM_017738,centlein, centrosomal protein,1406aa) | g.9:17462992A>G,c.3385A>G,p.I1129V |
| CNTLN(NM_017738,centlein, centrosomal protein,1406aa) | g.9:17462985A>C,c.3378A>C,p.E1126D |
| CNTLN(NM_017738,centlein, centrosomal protein,1406aa) | g.9:17416033G>A,c.2960G>A,p.R987Q |
| CNTLN(NM_017738,centlein, centrosomal protein,1406aa) | g.9:17415876A>G,c.2887A>G,p.R963G |
| CNTLN(NM_017738,centlein, centrosomal protein,1406aa) | g.9:17415847A>G,c.2858A>G,p.Q953R |
| CNTLN(NM_017738,centlein, centrosomal protein,1406aa) | g.9:17394994C>T,c.2542C>T,p.H848Y |