| 基因名 | 突变 |
|---|---|
| GJA4(NM_002060,gap junction protein, alpha 4, 37kDa,333aa) | g.1:35260202G>A,c.388G>A,p.V130I |
| GJA4(NM_002060,gap junction protein, alpha 4, 37kDa,333aa) | g.1:35260197C>T,c.383C>T,p.A128V |
| GJA3(NM_021954,gap junction protein, alpha 3, 46kDa,435aa) | g.13:20717030C>T,c.398G>A,p.R133Q |
| GJA3(NM_021954,gap junction protein, alpha 3, 46kDa,435aa) | g.13:20716533G>T,c.895C>A,p.L299M |
| GJA3(NM_021954,gap junction protein, alpha 3, 46kDa,435aa) | g.13:20716317C>T,c.1111G>A,p.A371T |
| GJA3(NM_021954,gap junction protein, alpha 3, 46kDa,435aa) | g.13:20716194C>T,c.1234G>A,p.G412R |
| GJA1(NM_000165,gap junction protein, alpha 1, 43kDa,382aa) | g.6:121769078G>A,c.1085G>A,p.R362Q |
| GJA1(NM_000165,gap junction protein, alpha 1, 43kDa,382aa) | g.6:121768751C>T,c.758C>T,p.A253V |
| GJA1(NM_000165,gap junction protein, alpha 1, 43kDa,382aa) | g.6:121768220G>A,c.227G>A,p.R76H |
| GJA10(NM_032602,gap junction protein, alpha 10, 62kDa,543aa) | g.6:90605664C>T,c.1477C>T,p.Q493X |
| GJA10(NM_032602,gap junction protein, alpha 10, 62kDa,543aa) | g.6:90605592C>T,c.1405C>T,p.P469S |
| GJA10(NM_032602,gap junction protein, alpha 10, 62kDa,543aa) | g.6:90605577G>A,c.1390G>A,p.E464K |
| GJA10(NM_032602,gap junction protein, alpha 10, 62kDa,543aa) | g.6:90605513T>A,c.1326T>A,p.H442Q |
| GJA10(NM_032602,gap junction protein, alpha 10, 62kDa,543aa) | g.6:90605475G>A,c.1288G>A,p.A430T |
| GJA10(NM_032602,gap junction protein, alpha 10, 62kDa,543aa) | g.6:90605217G>C,c.1030G>C,p.A344P |
| GJA10(NM_032602,gap junction protein, alpha 10, 62kDa,543aa) | g.6:90605193A>G,c.1006A>G,p.S336G |
| GJA10(NM_032602,gap junction protein, alpha 10, 62kDa,543aa) | g.6:90605130C>T,c.943C>T,p.P315S |
| GJA10(NM_032602,gap junction protein, alpha 10, 62kDa,543aa) | g.6:90604750A>G,c.563A>G,p.K188R |
| GJA10(NM_032602,gap junction protein, alpha 10, 62kDa,543aa) | g.6:90604651G>A,c.464G>A,p.R155H |
| GIT2(NM_057169,G protein-coupled receptor kinase interacting ArfGAP 2,759aa) | g.12:110426862G>A,c.311C>T,p.A104V |
| GIT2(NM_057169,G protein-coupled receptor kinase interacting ArfGAP 2,759aa) | g.12:110399117G>A,c.953C>T,p.P318L |
| GIT2(NM_057169,G protein-coupled receptor kinase interacting ArfGAP 2,759aa) | g.12:110397738T>C,c.1013A>G,p.N338S |
| GIT2(NM_057169,G protein-coupled receptor kinase interacting ArfGAP 2,759aa) | g.12:110390979T>C,c.1160A>G,p.N387S |
| GIT2(NM_057169,G protein-coupled receptor kinase interacting ArfGAP 2,759aa) | g.12:110385179C>T,c.1523G>A,p.R508Q |
| GIT2(NM_057169,G protein-coupled receptor kinase interacting ArfGAP 2,759aa) | g.12:110385123G>T,c.1579C>A,p.P527T |
| GIT2(NM_057169,G protein-coupled receptor kinase interacting ArfGAP 2,759aa) | g.12:110383141G>A,c.1655C>T,p.A552V |
| GIT1(NM_001085454,G protein-coupled receptor kinase interacting ArfGAP 1,770aa) | g.17:27910532C>T,c.155G>A,p.R52H |
| GIT1(NM_001085454,G protein-coupled receptor kinase interacting ArfGAP 1,770aa) | g.17:27910524C>T,c.163G>A,p.A55T |