| 基因名 | 突变 |
|---|---|
| MAST2(NM_015112,microtubule associated serine/threonine kinase 2,1798aa) | g.1:46473975C>T,c.910C>T,p.R304X |
| MAST2(NM_015112,microtubule associated serine/threonine kinase 2,1798aa) | g.1:46425065A>G,c.508A>G,p.T170A |
| MAST1(NM_014975,microtubule associated serine/threonine kinase 1,1570aa) | g.19:12985034G>C,c.4063G>C,p.V1355L |
| MAST1(NM_014975,microtubule associated serine/threonine kinase 1,1570aa) | g.19:12984845C>T,c.3874C>T,p.P1292S |
| MAST1(NM_014975,microtubule associated serine/threonine kinase 1,1570aa) | g.19:12981865G>T,c.3142G>T,p.A1048S |
| MAST1(NM_014975,microtubule associated serine/threonine kinase 1,1570aa) | g.19:12979885C>T,c.2779C>T,p.P927S |
| MAST1(NM_014975,microtubule associated serine/threonine kinase 1,1570aa) | g.19:12979468C>T,c.2578C>T,p.R860C |
| MAST1(NM_014975,microtubule associated serine/threonine kinase 1,1570aa) | g.19:12963163A>G,c.1031A>G,p.Q344R |
| MAST1(NM_014975,microtubule associated serine/threonine kinase 1,1570aa) | g.19:12954416G>A,c.322G>A,p.V108I |
| MASP2(NM_006610,mannan-binding lectin serine peptidase 2,686aa) | g.1:11106729C>T,c.296G>A,p.R99Q |
| MASP2(NM_006610,mannan-binding lectin serine peptidase 2,686aa) | g.1:11106673G>A,c.352C>T,p.R118C |
| MASP2(NM_006610,mannan-binding lectin serine peptidase 2,686aa) | g.1:11106666T>C,c.359A>G,p.D120G |
| MASP2(NM_006610,mannan-binding lectin serine peptidase 2,686aa) | g.1:11106648G>A,c.377C>T,p.P126L |
| MASP2(NM_006610,mannan-binding lectin serine peptidase 2,686aa) | g.1:11106642G>A,c.383C>T,p.T128M |
| MASP2(NM_006610,mannan-binding lectin serine peptidase 2,686aa) | g.1:11105561G>C,c.448C>G,p.P150A |
| MASP2(NM_006610,mannan-binding lectin serine peptidase 2,686aa) | g.1:11105545T>C,c.464A>G,p.H155R |
| MASP2(NM_006610,mannan-binding lectin serine peptidase 2,686aa) | g.1:11105542C>T,c.467G>A,p.C156Y |
| MASP2(NM_006610,mannan-binding lectin serine peptidase 2,686aa) | g.1:11105504C>T,c.505G>A,p.A169T |
| MASP2(NM_006610,mannan-binding lectin serine peptidase 2,686aa) | g.1:11103530G>A,c.607C>T,p.R203W |
| MASP2(NM_006610,mannan-binding lectin serine peptidase 2,686aa) | g.1:11102940G>A,c.881C>T,p.T294M |
| MASP2(NM_006610,mannan-binding lectin serine peptidase 2,686aa) | g.1:11090916C>A,c.1111G>T,p.D371Y |
| MASP2(NM_006610,mannan-binding lectin serine peptidase 2,686aa) | g.1:11090897A>G,c.1130T>C,p.V377A |
| MASP2(NM_006610,mannan-binding lectin serine peptidase 2,686aa) | g.1:11090885G>A,c.1142C>T,p.T381I |
| MASP2(NM_006610,mannan-binding lectin serine peptidase 2,686aa) | g.1:11090814C>T,c.1213G>A,p.V405M |
| MASP2(NM_006610,mannan-binding lectin serine peptidase 2,686aa) | g.1:11090287C>T,c.1243G>A,p.D415N |
| MASP2(NM_006610,mannan-binding lectin serine peptidase 2,686aa) | g.1:11090274G>A,c.1256C>T,p.T419M |
| MASP2(NM_006610,mannan-binding lectin serine peptidase 2,686aa) | g.1:11087687C>T,c.1316G>A,p.R439H |
| MASP2(NM_006610,mannan-binding lectin serine peptidase 2,686aa) | g.1:11087344_11087347del,c.1656_1659del,p.552fs |