| 基因名 | 突变 |
|---|---|
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228527671G>A,c.20155G>A,p.D6719N |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228526653C>A,c.20055C>A,p.H6685Q |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228526619G>A,c.20021G>A,p.S6674N |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228526578T>A,c.19980T>A,p.S6660R |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228526067G>T,c.19949G>T,p.R6650M |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228525823C>T,c.19850C>T,p.A6617V |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228525008G>A,c.19595G>A,p.R6532H |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228524774T>C,c.19478T>C,p.L6493P |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228524756T>C,c.19460T>C,p.V6487A |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228522994C>T,c.19271C>T,p.S6424L |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228522931C>T,c.19208C>T,p.T6403I |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228522880C>A,c.19157C>A,p.A6386E |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228522856C>T,c.19133C>T,p.P6378L |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228520995G>A,c.18698G>A,p.R6233H |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228520973C>G,c.18676C>G,p.L6226V |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228509754C>T,c.18083C>T,p.A6028V |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228509745del,c.18074del,p.6025fs |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228509733C>T,c.18062C>T,p.A6021V |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228509697G>A,c.18026G>A,p.R6009H |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228509681G>T,c.18010G>T,p.D6004Y |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228509676C>A,c.18005C>A,p.P6002H |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228509610C>T,c.17939C>T,p.P5980L |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228509589G>A,c.17918G>A,p.R5973Q |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228509588C>T,c.17917C>T,p.R5973W |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228509475G>A,c.17804G>A,p.G5935D |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228509427A>G,c.17756A>G,p.D5919G |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228509325G>A,c.17654G>A,p.R5885Q |
| OBSCN(NM_001271223,obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF,8923aa) | g.1:228509321G>A,c.17650G>A,p.V5884M |