| 基因名 | 突变 |
|---|---|
| SENP3(NM_015670,SUMO1/sentrin/SMT3 specific peptidase 3,574aa) | g.17:7470286del,c.1305+1del,p.435Donordel |
| SENP3(NM_015670,SUMO1/sentrin/SMT3 specific peptidase 3,574aa) | g.17:7470286A>C,c.1305+1A>C,p.435Donor |
| SENP3(NM_015670,SUMO1/sentrin/SMT3 specific peptidase 3,574aa) | g.17:7466667G>A,c.274G>A,p.E92K |
| SENP3(NM_015670,SUMO1/sentrin/SMT3 specific peptidase 3,574aa) | g.17:7466628G>A,c.235G>A,p.E79K |
| SENP2(NM_021627,SUMO1/sentrin/SMT3 specific peptidase 2,589aa) | g.3:185331165C>A,c.902C>A,p.T301K |
| SENP2(NM_021627,SUMO1/sentrin/SMT3 specific peptidase 2,589aa) | g.3:185329527A>G,c.811A>G,p.K271E |
| SENP1(NM_001267595,SUMO1/sentrin specific peptidase 1,644aa) | g.12:48491850T>C,c.62A>G,p.N21S |
| SENP1(NM_001267595,SUMO1/sentrin specific peptidase 1,644aa) | g.12:48482726T>C,c.238A>G,p.S80G |
| SENP1(NM_001267595,SUMO1/sentrin specific peptidase 1,644aa) | g.12:48458912T>C,c.1211A>G,p.Q404R |
| SEMG2(NM_003008,semenogelin II,582aa) | g.20:43851927G>C,c.1654G>C,p.E552Q |
| SEMG2(NM_003008,semenogelin II,582aa) | g.20:43851767T>G,c.1494T>G,p.I498M |
| SEMG2(NM_003008,semenogelin II,582aa) | g.20:43851523G>A,c.1250G>A,p.R417H |
| SEMG2(NM_003008,semenogelin II,582aa) | g.20:43851375G>C,c.1102G>C,p.G368R |
| SEMG2(NM_003008,semenogelin II,582aa) | g.20:43851115G>A,c.842G>A,p.R281Q |
| SEMG2(NM_003008,semenogelin II,582aa) | g.20:43851108C>T,c.835C>T,p.H279Y |
| SEMG2(NM_003008,semenogelin II,582aa) | g.20:43851094G>A,c.821G>A,p.S274N |
| SEMG2(NM_003008,semenogelin II,582aa) | g.20:43851022C>T,c.749C>T,p.P250L |
| SEMG2(NM_003008,semenogelin II,582aa) | g.20:43850988C>T,c.715C>T,p.H239Y |
| SEMG2(NM_003008,semenogelin II,582aa) | g.20:43850445A>G,c.172A>G,p.K58E |
| SEMG2(NM_003008,semenogelin II,582aa) | g.20:43850442A>G,c.169A>G,p.T57A |
| SEMG2(NM_003008,semenogelin II,582aa) | g.20:43850400C>A,c.127C>A,p.Q43K |
| SEMG2(NM_003008,semenogelin II,582aa) | g.20:43850376G>A,c.103G>A,p.G35R |
| SEMG1(NM_003007,semenogelin I,462aa) | g.20:43837278G>A,c.1340G>A,p.R447H |
| SEMG1(NM_003007,semenogelin I,462aa) | g.20:43837053G>T,c.1115G>T,p.R372L |
| SEMG1(NM_003007,semenogelin I,462aa) | g.20:43837007C>T,c.1069C>T,p.R357X |
| SEMG1(NM_003007,semenogelin I,462aa) | g.20:43836965G>A,c.1027G>A,p.A343T |
| SEMG1(NM_003007,semenogelin I,462aa) | g.20:43836516G>A,c.578G>A,p.S193N |
| SEMG1(NM_003007,semenogelin I,462aa) | g.20:43836435T>C,c.497T>C,p.L166P |