| 基因名 | 突变 |
|---|---|
| NWD1(NM_001007525,NACHT and WD repeat domain containing 1,1432aa) | g.19:16860087G>A,c.634G>A,p.A212T |
| NWD1(NM_001007525,NACHT and WD repeat domain containing 1,1432aa) | g.19:16860084C>T,c.631C>T,p.L211F |
| NWD1(NM_001007525,NACHT and WD repeat domain containing 1,1432aa) | g.19:16860041C>A,c.588C>A,p.H196Q |
| NWD1(NM_001007525,NACHT and WD repeat domain containing 1,1432aa) | g.19:16860001A>T,c.548A>T,p.Q183L |
| NWD1(NM_001007525,NACHT and WD repeat domain containing 1,1432aa) | g.19:16859995G>A,c.542G>A,p.R181Q |
| NWD1(NM_001007525,NACHT and WD repeat domain containing 1,1432aa) | g.19:16859994C>T,c.541C>T,p.R181W |
| NWD1(NM_001007525,NACHT and WD repeat domain containing 1,1432aa) | g.19:16859971G>A,c.518G>A,p.R173Q |
| NWD1(NM_001007525,NACHT and WD repeat domain containing 1,1432aa) | g.19:16855457C>T,c.424C>T,p.R142C |
| NWD1(NM_001007525,NACHT and WD repeat domain containing 1,1432aa) | g.19:16855265A>G,c.232A>G,p.I78V |
| NWD1(NM_001007525,NACHT and WD repeat domain containing 1,1432aa) | g.19:16847526C>T,c.163C>T,p.R55W |
| NWD1(NM_001007525,NACHT and WD repeat domain containing 1,1432aa) | g.19:16847476T>C,c.113T>C,p.I38T |
| NWD1(NM_001007525,NACHT and WD repeat domain containing 1,1432aa) | g.19:16842052G>T,c.44G>T,p.C15F |
| NVL(NM_002533,nuclear VCP-like,856aa) | g.1:224517810C>T,c.20G>A,p.G7E |
| NVL(NM_002533,nuclear VCP-like,856aa) | g.1:224492820T>G,c.664A>C,p.K222Q |
| NVL(NM_002533,nuclear VCP-like,856aa) | g.1:224492783T>A,c.701A>T,p.D234V |
| NVL(NM_002533,nuclear VCP-like,856aa) | g.1:224491541T>C,c.844A>G,p.I282V |
| NVL(NM_002533,nuclear VCP-like,856aa) | g.1:224491502C>T,c.883G>A,p.V295I |
| NVL(NM_002533,nuclear VCP-like,856aa) | g.1:224484278T>C,c.1105A>G,p.I369V |
| NVL(NM_002533,nuclear VCP-like,856aa) | g.1:224482084C>T,c.1210G>A,p.V404I |
| NVL(NM_002533,nuclear VCP-like,856aa) | g.1:224477301T>C,c.1460A>G,p.N487S |
| NVL(NM_002533,nuclear VCP-like,856aa) | g.1:224468857T>G,c.1930A>C,p.I644L |
| NVL(NM_002533,nuclear VCP-like,856aa) | g.1:224424239T>C,c.2335A>G,p.I779V |
| NVL(NM_002533,nuclear VCP-like,856aa) | g.1:224418966C>T,c.2488G>A,p.E830K |
| NVL(NM_002533,nuclear VCP-like,856aa) | g.1:224415342A>G,c.2557T>C,p.S853P |
| NVL(NM_002533,nuclear VCP-like,856aa) | g.1:224415333G>A,c.2566C>T,p.R856W |
| NUTM2G(NM_001045477,NUT family member 2G,492aa) | g.9:99700252T>G,c.1409T>G,p.L470R |
| NUTM2G(NM_001045477,NUT family member 2G,492aa) | g.9:99700212C>T,c.1369C>T,p.P457S |
| NUTM2G(NM_001045477,NUT family member 2G,492aa) | g.9:99699601C>T,c.1238C>T,p.P413L |