| 基因名 | 突变 |
|---|---|
| MSH2(NM_000251,mutS homolog 2,934aa) | g.2:47657059C>A,c.1255C>A,p.Q419K |
| MSH2(NM_000251,mutS homolog 2,934aa) | g.2:47656972C>T,c.1168C>T,p.L390F |
| MSH2(NM_000251,mutS homolog 2,934aa) | g.2:47656891G>T,c.1087G>T,p.V363L |
| MSH2(NM_000251,mutS homolog 2,934aa) | g.2:47643457G>A,c.965G>A,p.G322D |
| MSH2(NM_000251,mutS homolog 2,934aa) | g.2:47641450C>G,c.835C>G,p.L279V |
| MSH2(NM_000251,mutS homolog 2,934aa) | g.2:47639649del,c.742del,p.248fs |
| MSH2(NM_000251,mutS homolog 2,934aa) | g.2:47639588del,c.681del,p.227fs |
| MSH2(NM_000251,mutS homolog 2,934aa) | g.2:47639587_47639588insA,c.680_681insA,p.227fs |
| MSH2(NM_000251,mutS homolog 2,934aa) | g.2:47637416del,c.550del,p.184fs |
| MSH2(NM_000251,mutS homolog 2,934aa) | g.2:47637371A>G,c.505A>G,p.I169V |
| MSH2(NM_000251,mutS homolog 2,934aa) | g.2:47637356G>A,c.490G>A,p.G164R |
| MSH2(NM_000251,mutS homolog 2,934aa) | g.2:47637248C>G,c.382C>G,p.L128V |
| MSH2(NM_000251,mutS homolog 2,934aa) | g.2:47637246A>G,c.380A>G,p.N127S |
| MSH2(NM_000251,mutS homolog 2,934aa) | g.2:47630368G>T,c.38G>T,p.S13I |
| MSH2(NM_000251,mutS homolog 2,934aa) | g.2:47630353C>T,c.23C>T,p.T8M |
| MSH2(NM_000251,mutS homolog 2,934aa) | g.2:47630344C>A,c.14C>A,p.P5Q |
| MSGN1(NM_001105569,mesogenin 1,193aa) | g.2:17998095C>T,c.310C>T,p.H104Y |
| MSGN1(NM_001105569,mesogenin 1,193aa) | g.2:17998025A>T,c.240A>T,p.E80D |
| MSANTD4(NM_032424,Myb/SANT-like DNA-binding domain containing 4 with coiled-coils,345aa) | g.11:105880687C>T,c.613G>A,p.V205I |
| MSANTD3-TMEFF1(NM_001198812,MSANTD3-TMEFF1 readthrough,454aa) | g.9:103323753A>T,c.1072A>T,p.I358F |
| MSANTD3-TMEFF1(NM_001198812,MSANTD3-TMEFF1 readthrough,454aa) | g.9:103204536C>G,c.316C>G,p.L106V |
| MSANTD3-TMEFF1(NM_001198812,MSANTD3-TMEFF1 readthrough,454aa) | g.9:103204233_103204234insA,c.13_14insA,p.5fs |
| MSANTD3(NM_001198807,Myb/SANT-like DNA-binding domain containing 3,159aa) | g.9:103207495C>T,c.463C>T,p.L155F |
| MSANTD2(NM_024631,Myb/SANT-like DNA-binding domain containing 2,507aa) | g.11:124637227C>T,c.1369G>A,p.G457R |
| MSANTD1(NM_001042690,Myb/SANT-like DNA-binding domain containing 1,278aa) | g.4:3257687G>A,c.832G>A,p.V278I |
| MSANTD1(NM_001042690,Myb/SANT-like DNA-binding domain containing 1,278aa) | g.4:3257667G>T,c.812G>T,p.R271M |
| MSANTD1(NM_001042690,Myb/SANT-like DNA-binding domain containing 1,278aa) | g.4:3255137A>G,c.524A>G,p.Q175R |
| MSANTD1(NM_001042690,Myb/SANT-like DNA-binding domain containing 1,278aa) | g.4:3251215G>A,c.266G>A,p.R89H |