| 基因名 | 突变 |
|---|---|
| SMIM2(NM_024058,small integral membrane protein 2,85aa) | g.13:44734865C>T,c.127G>A,p.A43T |
| SMIM21(NM_001037331,small integral membrane protein 21,101aa) | g.18:73139497C>G,c.22G>C,p.A8P |
| SMIM21(NM_001037331,small integral membrane protein 21,101aa) | g.18:73139434G>A,c.85C>T,p.R29W |
| SMIM20(NM_001145432,small integral membrane protein 20,67aa) | g.4:25915957G>A,c.22G>A,p.A8T |
| SMIM18(NM_001206847,small integral membrane protein 18,95aa) | g.8:30503071G>T,c.245G>T,p.S82I |
| SMIM18(NM_001206847,small integral membrane protein 18,95aa) | g.8:30502975T>C,c.149T>C,p.V50A |
| SMIM15(NM_001048249,small integral membrane protein 15,74aa) | g.5:60455923C>T,c.76G>A,p.V26I |
| SMIM15(NM_001048249,small integral membrane protein 15,74aa) | g.5:60455790C>T,c.209G>A,p.R70Q |
| SMIM11(NM_058182,small integral membrane protein 11,58aa) | g.21:35757915A>G,c.152A>G,p.K51R |
| SMIM11(NM_058182,small integral membrane protein 11,58aa) | g.21:35757881G>A,c.118G>A,p.A40T |
| SMG9(NM_019108,SMG9 nonsense mediated mRNA decay factor,520aa) | g.19:44254805T>G,c.89A>C,p.N30T |
| SMG9(NM_019108,SMG9 nonsense mediated mRNA decay factor,520aa) | g.19:44254785G>A,c.109C>T,p.R37W |
| SMG9(NM_019108,SMG9 nonsense mediated mRNA decay factor,520aa) | g.19:44252159T>C,c.196A>G,p.I66V |
| SMG9(NM_019108,SMG9 nonsense mediated mRNA decay factor,520aa) | g.19:44251929C>T,c.346G>A,p.A116T |
| SMG9(NM_019108,SMG9 nonsense mediated mRNA decay factor,520aa) | g.19:44251898G>A,c.377C>T,p.P126L |
| SMG9(NM_019108,SMG9 nonsense mediated mRNA decay factor,520aa) | g.19:44244282G>A,c.790C>T,p.R264W |
| SMG9(NM_019108,SMG9 nonsense mediated mRNA decay factor,520aa) | g.19:44237580T>C,c.1235A>G,p.N412S |
| SMG8(NM_018149,SMG8 nonsense mediated mRNA decay factor,991aa) | g.17:57292191C>T,c.2804C>T,p.P935L |
| SMG8(NM_018149,SMG8 nonsense mediated mRNA decay factor,991aa) | g.17:57290852T>C,c.2668T>C,p.Y890H |
| SMG8(NM_018149,SMG8 nonsense mediated mRNA decay factor,991aa) | g.17:57290763T>C,c.2579T>C,p.M860T |
| SMG8(NM_018149,SMG8 nonsense mediated mRNA decay factor,991aa) | g.17:57289805T>A,c.1863T>A,p.D621E |
| SMG8(NM_018149,SMG8 nonsense mediated mRNA decay factor,991aa) | g.17:57288573_57288575del,c.1161_1163del,p.387_388del |
| SMG8(NM_018149,SMG8 nonsense mediated mRNA decay factor,991aa) | g.17:57288251C>T,c.839C>T,p.P280L |
| SMG8(NM_018149,SMG8 nonsense mediated mRNA decay factor,991aa) | g.17:57288232G>T,c.820G>T,p.A274S |
| SMG8(NM_018149,SMG8 nonsense mediated mRNA decay factor,991aa) | g.17:57287425G>A,c.13G>A,p.V5M |
| SMG7(NM_001174061,SMG7 nonsense mediated mRNA decay factor,1145aa) | g.1:183521034C>T,c.3406C>T,p.R1136W |
| SMG7(NM_001174061,SMG7 nonsense mediated mRNA decay factor,1145aa) | g.1:183516271C>A,c.2650C>A,p.L884M |
| SMG7(NM_001174061,SMG7 nonsense mediated mRNA decay factor,1145aa) | g.1:183516241C>T,c.2620C>T,p.P874S |