| 基因名 | 突变 |
|---|---|
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228495913G>A,c.15439G>A,p.V5147M |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228495832C>T,c.15358C>T,p.R5120W |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228495199G>A,c.15304G>A,p.G5102S |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228495112G>A,c.15217G>A,p.E5073K |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228495053C>T,c.15158C>T,p.S5053L |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228494866G>T,c.15062G>T,p.R5021L |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228494790G>A,c.14986G>A,p.G4996R |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228494216C>T,c.14674C>T,p.R4892W |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228494097C>T,c.14555C>T,p.P4852L |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228493064C>T,c.14507C>T,p.T4836M |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228492220C>T,c.14219C>T,p.S4740L |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228492186C>A,c.14185C>A,p.R4729S |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228491633G>A,c.13996G>A,p.V4666I |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228491402G>T,c.13765G>T,p.V4589L |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228491402G>A,c.13765G>A,p.V4589M |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228487672G>A,c.13564G>A,p.A4522T |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228486971A>G,c.13222A>G,p.R4408G |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228486404C>T,c.13196C>T,p.T4399M |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228482738G>A,c.12940G>A,p.V4314I |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228482059G>A,c.12625G>A,p.G4209R |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228481897A>C,c.12463A>C,p.T4155P |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228481122C>T,c.12223C>T,p.R4075W |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228481067G>C,c.12168G>C,p.K4056N |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228480319G>C,c.11986G>C,p.V3996L |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228479808G>A,c.11836G>A,p.E3946K |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228476367A>T,c.11404A>T,p.S3802C |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228476366G>T,c.11403G>T,p.E3801D |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228475954C>T,c.11291C>T,p.A3764V |