| 基因名 | 突变 |
|---|---|
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220420868G>A,c.4483C>T,p.R1495C |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220419339T>C,c.4733A>G,p.Q1578R |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220419294C>T,c.4778G>A,p.R1593H |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220419222C>T,c.4850G>A,p.R1617H |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220418410_220418411insG,c.4877-2insC,p.1626Acceptorins |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220417364G>T,c.5202C>A,p.D1734E |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220417356G>T,c.5210C>A,p.T1737K |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220417266C>T,c.5300G>A,p.R1767Q |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228566464T>C,c.26740T>C,p.Y8914H |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228566387G>A,c.26663G>A,p.R8888Q |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228565329G>A,c.26290G>A,p.V8764I |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228565209G>A,c.26170G>A,p.E8724K |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228564917A>T,c.26075A>T,p.Y8692F |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228564884G>A,c.26042G>A,p.R8681H |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228564794G>A,c.25952G>A,p.S8651N |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228564757C>T,c.25915C>T,p.R8639C |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228563799C>T,c.25748C>T,p.T8583M |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228563775G>A,c.25724G>A,p.R8575Q |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228563477G>A,c.25609G>A,p.V8537M |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228562313G>A,c.25394G>A,p.R8465H |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228562288G>A,c.25369G>A,p.G8457R |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228562285G>C,c.25367-1G>C,p.8456Acceptor |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228560729G>C,c.25121G>C,p.R8374T |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228560023C>T,c.24415C>T,p.R8139C |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228559994C>T,c.24386C>T,p.A8129V |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228559967C>T,c.24359C>T,p.P8120L |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228559933A>T,c.24325A>T,p.T8109S |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228559735G>A,c.24127G>A,p.A8043T |