| 基因名 | 突变 |
|---|---|
| CKAP5(NM_001008938,cytoskeleton associated protein 5,2032aa) | g.11:46837837C>A,c.370G>T,p.A124S |
| CKAP5(NM_001008938,cytoskeleton associated protein 5,2032aa) | g.11:46837774T>C,c.433A>G,p.I145V |
| CKAP5(NM_001008938,cytoskeleton associated protein 5,2032aa) | g.11:46831357C>T,c.698G>A,p.R233H |
| CKAP5(NM_001008938,cytoskeleton associated protein 5,2032aa) | g.11:46831050C>T,c.764G>A,p.G255D |
| CKAP5(NM_001008938,cytoskeleton associated protein 5,2032aa) | g.11:46812088C>T,c.1696G>A,p.A566T |
| CKAP5(NM_001008938,cytoskeleton associated protein 5,2032aa) | g.11:46801823T>C,c.2354A>G,p.Y785C |
| CKAP5(NM_001008938,cytoskeleton associated protein 5,2032aa) | g.11:46799766C>T,c.2671G>A,p.A891T |
| CKAP5(NM_001008938,cytoskeleton associated protein 5,2032aa) | g.11:46797830del,c.2966del,p.989fs |
| CKAP5(NM_001008938,cytoskeleton associated protein 5,2032aa) | g.11:46792478G>A,c.3046C>T,p.L1016F |
| CKAP5(NM_001008938,cytoskeleton associated protein 5,2032aa) | g.11:46786788T>A,c.3430A>T,p.M1144L |
| CKAP5(NM_001008938,cytoskeleton associated protein 5,2032aa) | g.11:46771940G>C,c.5588C>G,p.A1863G |
| CKAP4(NM_006825,cytoskeleton-associated protein 4,602aa) | g.12:106641490_106641492del,c.138_140del,p.46_47del |
| CKAP4(NM_006825,cytoskeleton-associated protein 4,602aa) | g.12:106641250A>G,c.380T>C,p.V127A |
| CKAP4(NM_006825,cytoskeleton-associated protein 4,602aa) | g.12:106633886G>A,c.725C>T,p.T242M |
| CKAP4(NM_006825,cytoskeleton-associated protein 4,602aa) | g.12:106633569C>T,c.1042G>A,p.A348T |
| CKAP4(NM_006825,cytoskeleton-associated protein 4,602aa) | g.12:106633557G>C,c.1054C>G,p.L352V |
| CKAP4(NM_006825,cytoskeleton-associated protein 4,602aa) | g.12:106633553G>T,c.1058C>A,p.T353K |
| CKAP4(NM_006825,cytoskeleton-associated protein 4,602aa) | g.12:106633500G>A,c.1111C>T,p.R371W |
| CKAP4(NM_006825,cytoskeleton-associated protein 4,602aa) | g.12:106633424G>A,c.1187C>T,p.S396L |
| CKAP4(NM_006825,cytoskeleton-associated protein 4,602aa) | g.12:106633365C>T,c.1246G>A,p.V416M |
| CKAP4(NM_006825,cytoskeleton-associated protein 4,602aa) | g.12:106633199G>A,c.1412C>T,p.T471M |
| CKAP4(NM_006825,cytoskeleton-associated protein 4,602aa) | g.12:106632873A>C,c.1738T>G,p.L580V |
| CKAP2(NM_001098525,cytoskeleton associated protein 2,683aa) | g.13:53049198G>C,c.1974G>C,p.L658F |
| CKAP2(NM_001098525,cytoskeleton associated protein 2,683aa) | g.13:53047966G>A,c.1552G>A,p.E518K |
| CKAP2(NM_001098525,cytoskeleton associated protein 2,683aa) | g.13:53039547C>T,c.1426C>T,p.P476S |
| CKAP2(NM_001098525,cytoskeleton associated protein 2,683aa) | g.13:53039451C>G,c.1330C>G,p.L444V |
| CKAP2(NM_001098525,cytoskeleton associated protein 2,683aa) | g.13:53039442G>A,c.1321G>A,p.E441K |
| CKAP2(NM_001098525,cytoskeleton associated protein 2,683aa) | g.13:53036555T>G,c.1161T>G,p.N387K |