| 基因名 | 突变 |
|---|---|
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220432804G>A,c.1255C>T,p.R419C |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220432060C>T,c.1772G>A,p.R591H |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220432043C>T,c.1789G>A,p.G597R |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220431836C>T,c.1850G>A,p.R617H |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220431801C>T,c.1885G>A,p.D629N |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220431714C>T,c.1972G>A,p.E658K |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220431710G>A,c.1976C>T,p.P659L |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220431674C>T,c.2012G>A,p.R671H |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220430238_220430239del,c.2135-2del,p.712Acceptordel |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220430203C>T,c.2168G>A,p.R723K |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220430056C>T,c.2315G>A,p.R772H |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220429979C>T,c.2392G>A,p.G798S |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220427157C>T,c.2920G>A,p.D974N |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220427130C>T,c.2947G>A,p.V983I |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220424192C>T,c.2981G>A,p.R994H |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220423071G>A,c.3337C>T,p.R1113C |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220422740G>A,c.3595C>T,p.R1199W |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220422731C>T,c.3604G>A,p.A1202T |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220422686C>T,c.3649G>A,p.E1217K |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220422292C>T,c.3839G>A,p.R1280Q |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220422281C>T,c.3850G>A,p.G1284S |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220422181A>T,c.3950T>A,p.L1317Q |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220421417C>G,c.4095G>C,p.E1365D |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220421395C>T,c.4117G>A,p.E1373K |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220421320C>T,c.4192G>A,p.V1398I |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220421227C>T,c.4285G>A,p.V1429M |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220420990C>T,c.4361G>A,p.R1454Q |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220420874C>T,c.4477G>A,p.D1493N |