| 基因名 | 突变 |
|---|---|
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228459677C>T,c.5741C>T,p.P1914L |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228456382A>C,c.5565A>C,p.K1855N |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228452032G>A,c.5353G>A,p.A1785T |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228452016G>C,c.5337G>C,p.E1779D |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228451928C>T,c.5249C>T,p.T1750M |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228451826C>T,c.5147C>T,p.A1716V |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228447463G>A,c.5123G>A,p.R1708H |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228447432T>G,c.5092T>G,p.C1698G |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228444589C>T,c.4823C>T,p.A1608V |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228444565T>A,c.4799T>A,p.V1600D |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228444385T>C,c.4619T>C,p.V1540A |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228437777C>T,c.4421C>T,p.T1474M |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228437675C>T,c.4319C>T,p.A1440V |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228434477C>T,c.4282C>T,p.R1428W |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228434381G>A,c.4186G>A,p.V1396M |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228433132C>T,c.3776C>T,p.A1259V |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228432264A>T,c.3749A>T,p.H1250L |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228432257C>T,c.3742C>T,p.H1248Y |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228432113T>A,c.3598T>A,p.Y1200N |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228432047G>T,c.3532G>T,p.A1178S |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228431034A>G,c.3356A>G,p.K1119R |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228430986C>T,c.3308C>T,p.T1103M |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228412370C>T,c.3140C>T,p.A1047V |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228412228G>A,c.2998G>A,p.A1000T |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228412195C>T,c.2965C>T,p.R989C |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228407285C>T,c.2914C>T,p.R972C |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228407265G>A,c.2894G>A,p.R965K |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228404888C>T,c.2552C>T,p.T851M |