| 基因名 | 突变 |
|---|---|
| TPRX1(NM_198479,tetra-peptide repeat homeobox 1,411aa) | g.19:48305394G>A,c.874C>T,p.R292W |
| TPRX1(NM_198479,tetra-peptide repeat homeobox 1,411aa) | g.19:48305357G>A,c.911C>T,p.P304L |
| TPRX1(NM_198479,tetra-peptide repeat homeobox 1,411aa) | g.19:48305205C>T,c.1063G>A,p.E355K |
| TPRX1(NM_198479,tetra-peptide repeat homeobox 1,411aa) | g.19:48305094G>A,c.1174C>T,p.Q392X |
| TPRX1(NM_198479,tetra-peptide repeat homeobox 1,411aa) | g.19:48305076C>T,c.1192G>A,p.V398M |
| TPRN(NM_001128228,taperin,711aa) | g.9:140094605C>A,c.559G>T,p.A187S |
| TPRN(NM_001128228,taperin,711aa) | g.9:140094273G>C,c.891C>G,p.F297L |
| TPRN(NM_001128228,taperin,711aa) | g.9:140094212G>A,c.952C>T,p.R318W |
| TPRN(NM_001128228,taperin,711aa) | g.9:140094091A>G,c.1073T>C,p.L358P |
| TPRN(NM_001128228,taperin,711aa) | g.9:140093696C>T,c.1468G>A,p.V490M |
| TPRN(NM_001128228,taperin,711aa) | g.9:140093464G>A,c.1700C>T,p.T567I |
| TPRN(NM_001128228,taperin,711aa) | g.9:140087032C>T,c.1837G>A,p.E613K |
| TPRN(NM_001128228,taperin,711aa) | g.9:140087025_140087027del,c.1842_1844del,p.614_615del |
| TPRN(NM_001128228,taperin,711aa) | g.9:140086963G>A,c.1906C>T,p.R636W |
| TPRN(NM_001128228,taperin,711aa) | g.9:140086761C>T,c.2023G>A,p.A675T |
| TPR(NM_003292,translocated promoter region, nuclear basket protein,2363aa) | g.1:186344126G>A,c.35C>T,p.T12M |
| TPR(NM_003292,translocated promoter region, nuclear basket protein,2363aa) | g.1:186344114T>C,c.47A>G,p.K16R |
| TPR(NM_003292,translocated promoter region, nuclear basket protein,2363aa) | g.1:186337028T>A,c.417A>T,p.E139D |
| TPR(NM_003292,translocated promoter region, nuclear basket protein,2363aa) | g.1:186332066T>G,c.599A>C,p.E200A |
| TPR(NM_003292,translocated promoter region, nuclear basket protein,2363aa) | g.1:186330810T>C,c.902A>G,p.N301S |
| TPR(NM_003292,translocated promoter region, nuclear basket protein,2363aa) | g.1:186330768T>C,c.944A>G,p.K315R |
| TPR(NM_003292,translocated promoter region, nuclear basket protein,2363aa) | g.1:186329969G>C,c.1027C>G,p.L343V |
| TPR(NM_003292,translocated promoter region, nuclear basket protein,2363aa) | g.1:186329959A>G,c.1037T>C,p.I346T |
| TPR(NM_003292,translocated promoter region, nuclear basket protein,2363aa) | g.1:186327772C>T,c.1400G>A,p.R467Q |
| TPR(NM_003292,translocated promoter region, nuclear basket protein,2363aa) | g.1:186326699A>T,c.1554T>A,p.D518E |
| TPR(NM_003292,translocated promoter region, nuclear basket protein,2363aa) | g.1:186324810A>G,c.1979T>C,p.I660T |
| TPR(NM_003292,translocated promoter region, nuclear basket protein,2363aa) | g.1:186322869G>A,c.2285C>T,p.T762M |
| TPR(NM_003292,translocated promoter region, nuclear basket protein,2363aa) | g.1:186321242C>T,c.2335G>A,p.V779I |