| 基因名 | 突变 |
|---|---|
| KRBA2(NM_213597,KRAB-A domain containing 2,492aa) | g.17:8272949C>T,c.982G>A,p.V328I |
| KRBA2(NM_213597,KRAB-A domain containing 2,492aa) | g.17:8272652G>A,c.1279C>T,p.R427W |
| KRBA2(NM_213597,KRAB-A domain containing 2,492aa) | g.17:8272627G>A,c.1304C>T,p.T435M |
| KRBA2(NM_213597,KRAB-A domain containing 2,492aa) | g.17:8272617C>G,c.1314G>C,p.E438D |
| KPTN(NM_007059,kaptin (actin binding protein),436aa) | g.19:47987416A>G,c.2T>C,p.M1T |
| KPTN(NM_007059,kaptin (actin binding protein),436aa) | g.19:47987230C>T,c.188G>A,p.R63Q |
| KPTN(NM_007059,kaptin (actin binding protein),436aa) | g.19:47979971C>T,c.1000G>A,p.E334K |
| KPTN(NM_007059,kaptin (actin binding protein),436aa) | g.19:47979892C>T,c.1079G>A,p.R360Q |
| KPTN(NM_007059,kaptin (actin binding protein),436aa) | g.19:47979803C>T,c.1168G>A,p.V390M |
| KPTN(NM_007059,kaptin (actin binding protein),436aa) | g.19:47978732G>A,c.1252C>T,p.R418W |
| KPRP(NM_001025231,keratinocyte proline-rich protein,579aa) | g.1:152733677G>T,c.1613G>T,p.G538V |
| KPRP(NM_001025231,keratinocyte proline-rich protein,579aa) | g.1:152733472C>T,c.1408C>T,p.P470S |
| KPRP(NM_001025231,keratinocyte proline-rich protein,579aa) | g.1:152733376C>G,c.1312C>G,p.P438A |
| KPRP(NM_001025231,keratinocyte proline-rich protein,579aa) | g.1:152733320G>A,c.1256G>A,p.R419H |
| KPRP(NM_001025231,keratinocyte proline-rich protein,579aa) | g.1:152733301T>A,c.1237T>A,p.C413S |
| KPRP(NM_001025231,keratinocyte proline-rich protein,579aa) | g.1:152733122G>A,c.1058G>A,p.R353H |
| KPRP(NM_001025231,keratinocyte proline-rich protein,579aa) | g.1:152732998C>T,c.934C>T,p.R312C |
| KPRP(NM_001025231,keratinocyte proline-rich protein,579aa) | g.1:152732876C>T,c.812C>T,p.P271L |
| KPRP(NM_001025231,keratinocyte proline-rich protein,579aa) | g.1:152732648T>C,c.584T>C,p.F195S |
| KPRP(NM_001025231,keratinocyte proline-rich protein,579aa) | g.1:152732567G>A,c.503G>A,p.R168H |
| KPRP(NM_001025231,keratinocyte proline-rich protein,579aa) | g.1:152732435C>T,c.371C>T,p.A124V |
| KPRP(NM_001025231,keratinocyte proline-rich protein,579aa) | g.1:152732299A>G,c.235A>G,p.K79E |
| KPRP(NM_001025231,keratinocyte proline-rich protein,579aa) | g.1:152732174T>C,c.110T>C,p.V37A |
| KPRP(NM_001025231,keratinocyte proline-rich protein,579aa) | g.1:152732116G>A,c.52G>A,p.V18I |
| KPRP(NM_001025231,keratinocyte proline-rich protein,579aa) | g.1:152732106A>T,c.42A>T,p.Q14H |
| KPRP(NM_001025231,keratinocyte proline-rich protein,579aa) | g.1:152732105A>C,c.41A>C,p.Q14P |
| KPNB1(NM_002265,karyopherin (importin) beta 1,876aa) | g.17:45748110G>A,c.1459G>A,p.V487I |
| KPNB1(NM_002265,karyopherin (importin) beta 1,876aa) | g.17:45745596_45745597insG,c.1044_1045insG,p.348fs |