| 基因名 | 突变 |
|---|---|
| EMCN(NM_016242,endomucin,261aa) | g.4:101401164C>T,c.97G>A,p.V33I |
| EMCN(NM_016242,endomucin,261aa) | g.4:101401163A>G,c.98T>C,p.V33A |
| EMCN(NM_016242,endomucin,261aa) | g.4:101401162_101401164del,c.97_99del,p.33del |
| EMCN(NM_016242,endomucin,261aa) | g.4:101386643C>T,c.313G>A,p.V105I |
| EMC9(NM_016049,ER membrane protein complex subunit 9,208aa) | g.14:24610455C>T,c.59G>A,p.R20Q |
| EMC9(NM_016049,ER membrane protein complex subunit 9,208aa) | g.14:24610441C>T,c.73G>A,p.A25T |
| EMC9(NM_016049,ER membrane protein complex subunit 9,208aa) | g.14:24608299G>A,c.547C>T,p.R183W |
| EMC8(NM_006067,ER membrane protein complex subunit 8,210aa) | g.16:85832807G>A,c.95C>T,p.A32V |
| EMC8(NM_006067,ER membrane protein complex subunit 8,210aa) | g.16:85814025C>T,c.433G>A,p.E145K |
| EMC7(NM_020154,ER membrane protein complex subunit 7,242aa) | g.15:34388147G>A,c.305C>T,p.A102V |
| EMC7(NM_020154,ER membrane protein complex subunit 7,242aa) | g.15:34380331T>A,c.499A>T,p.M167L |
| EMC4(NM_016454,ER membrane protein complex subunit 4,183aa) | g.15:34520687T>C,c.413T>C,p.I138T |
| EMC3(NM_018447,ER membrane protein complex subunit 3,261aa) | g.3:10011449G>A,c.611C>T,p.T204M |
| EMC3(NM_018447,ER membrane protein complex subunit 3,261aa) | g.3:10005790C>G,c.749G>C,p.G250A |
| EMC2(NM_014673,ER membrane protein complex subunit 2,297aa) | g.8:109498819C>T,c.886C>T,p.Q296X |
| EMC2(NM_014673,ER membrane protein complex subunit 2,297aa) | g.8:109489041C>G,c.622C>G,p.L208V |
| EMC1(NM_015047,ER membrane protein complex subunit 1,993aa) | g.1:19570183T>C,c.305A>G,p.N102S |
| EMC1(NM_015047,ER membrane protein complex subunit 1,993aa) | g.1:19566382A>G,c.884T>C,p.L295S |
| EMC1(NM_015047,ER membrane protein complex subunit 1,993aa) | g.1:19566340G>A,c.926C>T,p.T309M |
| EMC1(NM_015047,ER membrane protein complex subunit 1,993aa) | g.1:19565344C>G,c.1034G>C,p.S345T |
| EMC1(NM_015047,ER membrane protein complex subunit 1,993aa) | g.1:19565338C>T,c.1040G>A,p.S347N |
| EMC1(NM_015047,ER membrane protein complex subunit 1,993aa) | g.1:19565320A>G,c.1058T>C,p.M353T |
| EMC1(NM_015047,ER membrane protein complex subunit 1,993aa) | g.1:19565308G>A,c.1070C>T,p.S357L |
| EMC1(NM_015047,ER membrane protein complex subunit 1,993aa) | g.1:19564614T>C,c.1109A>G,p.N370S |
| EMC1(NM_015047,ER membrane protein complex subunit 1,993aa) | g.1:19564554G>A,c.1169C>T,p.T390M |
| EMC1(NM_015047,ER membrane protein complex subunit 1,993aa) | g.1:19564521C>T,c.1202G>A,p.R401Q |
| EMC1(NM_015047,ER membrane protein complex subunit 1,993aa) | g.1:19564513G>A,c.1210C>T,p.R404W |
| EMC1(NM_015047,ER membrane protein complex subunit 1,993aa) | g.1:19557348C>T,c.2054G>A,p.R685Q |