| 基因名 | 突变 |
|---|---|
| UTRN(NM_007124,utrophin,3433aa) | g.6:144835942A>C,c.5230A>C,p.I1744L |
| UTRN(NM_007124,utrophin,3433aa) | g.6:144835835G>A,c.5123G>A,p.R1708H |
| UTRN(NM_007124,utrophin,3433aa) | g.6:144832105G>T,c.4790G>T,p.R1597I |
| UTRN(NM_007124,utrophin,3433aa) | g.6:144820481C>G,c.4682C>G,p.S1561C |
| UTRN(NM_007124,utrophin,3433aa) | g.6:144812146C>T,c.4345C>T,p.R1449C |
| UTRN(NM_007124,utrophin,3433aa) | g.6:144811319A>G,c.4247A>G,p.Q1416R |
| UTRN(NM_007124,utrophin,3433aa) | g.6:144811268G>A,c.4196G>A,p.R1399H |
| UTRN(NM_007124,utrophin,3433aa) | g.6:144809953G>A,c.4117G>A,p.V1373I |
| UTRN(NM_007124,utrophin,3433aa) | g.6:144803399A>C,c.3562A>C,p.N1188H |
| UTRN(NM_007124,utrophin,3433aa) | g.6:144801054A>G,c.3443A>G,p.Y1148C |
| UTRN(NM_007124,utrophin,3433aa) | g.6:144795894A>T,c.3335A>T,p.E1112V |
| UTRN(NM_007124,utrophin,3433aa) | g.6:144795767G>C,c.3208G>C,p.E1070Q |
| UTRN(NM_007124,utrophin,3433aa) | g.6:144782450A>C,c.2825A>C,p.K942T |
| UTRN(NM_007124,utrophin,3433aa) | g.6:144780437G>A,c.2654G>A,p.R885H |
| UTRN(NM_007124,utrophin,3433aa) | g.6:144780413G>A,c.2630G>A,p.R877Q |
| UTRN(NM_007124,utrophin,3433aa) | g.6:144780113G>A,c.2492G>A,p.R831Q |
| UTRN(NM_007124,utrophin,3433aa) | g.6:144774931A>C,c.2210A>C,p.E737A |
| UTRN(NM_007124,utrophin,3433aa) | g.6:144769870G>T,c.2037G>T,p.K679N |
| UTRN(NM_007124,utrophin,3433aa) | g.6:144768444G>A,c.1712G>A,p.R571Q |
| UTRN(NM_007124,utrophin,3433aa) | g.6:144765462C>T,c.1558C>T,p.R520C |
| UTRN(NM_007124,utrophin,3433aa) | g.6:144765447C>T,c.1543C>T,p.R515C |
| UTRN(NM_007124,utrophin,3433aa) | g.6:144765430G>A,c.1526G>A,p.R509H |
| UTRN(NM_007124,utrophin,3433aa) | g.6:144765429C>T,c.1525C>T,p.R509C |
| UTRN(NM_007124,utrophin,3433aa) | g.6:144761544G>C,c.1449G>C,p.M483I |
| UTRN(NM_007124,utrophin,3433aa) | g.6:144747451C>T,c.434C>T,p.S145L |
| UTRN(NM_007124,utrophin,3433aa) | g.6:144743015G>A,c.143G>A,p.S48N |
| UTP6(NM_018428,UTP6, small subunit (SSU) processome component, homolog (yeast),597aa) | g.17:30228582A>G,c.65T>C,p.I22T |
| UTP6(NM_018428,UTP6, small subunit (SSU) processome component, homolog (yeast),597aa) | g.17:30226738T>C,c.104A>G,p.K35R |