| 基因名 | 突变 |
|---|---|
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228465523G>A,c.8110G>A,p.E2704K |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228465516T>G,c.8103T>G,p.F2701L |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228465346A>G,c.8020A>G,p.N2674D |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228465000C>T,c.7865C>T,p.S2622F |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228464889C>T,c.7754C>T,p.T2585M |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228464633C>G,c.7615C>G,p.L2539V |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228464412T>A,c.7607T>A,p.V2536D |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228464316C>G,c.7511C>G,p.P2504R |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228464303G>T,c.7498G>T,p.A2500S |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228464276T>C,c.7471T>C,p.F2491L |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228464255T>C,c.7450T>C,p.W2484R |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228464248T>G,c.7443T>G,p.D2481E |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228462332G>A,c.6868G>A,p.E2290K |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228461999C>T,c.6662C>T,p.T2221M |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228461986C>T,c.6649C>T,p.R2217C |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228461900G>A,c.6563G>A,p.R2188Q |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228461741A>C,c.6533A>C,p.Q2178P |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228461615G>A,c.6407G>A,p.R2136H |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228461551G>A,c.6343G>A,p.A2115T |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228461504G>A,c.6296G>A,p.R2099H |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228461239C>T,c.6253C>T,p.H2085Y |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228461129A>G,c.6143A>G,p.H2048R |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228461097C>G,c.6111C>G,p.D2037E |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228461095G>A,c.6109G>A,p.D2037N |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228461030C>T,c.6044C>T,p.A2015V |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228459896G>A,c.5960G>A,p.R1987Q |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228459862G>A,c.5926G>A,p.A1976T |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228459802C>T,c.5866C>T,p.R1956C |