| 基因名 | 突变 |
|---|---|
| EMILIN1(NM_007046,elastin microfibril interfacer 1,1016aa) | g.2:27306780G>A,c.2341G>A,p.G781R |
| EMILIN1(NM_007046,elastin microfibril interfacer 1,1016aa) | g.2:27306624C>T,c.2185C>T,p.R729C |
| EMILIN1(NM_007046,elastin microfibril interfacer 1,1016aa) | g.2:27306562G>A,c.2123G>A,p.R708Q |
| EMILIN1(NM_007046,elastin microfibril interfacer 1,1016aa) | g.2:27306543G>A,c.2104G>A,p.E702K |
| EMILIN1(NM_007046,elastin microfibril interfacer 1,1016aa) | g.2:27306220G>A,c.1781G>A,p.R594H |
| EMILIN1(NM_007046,elastin microfibril interfacer 1,1016aa) | g.2:27306114C>T,c.1675C>T,p.R559W |
| EMILIN1(NM_007046,elastin microfibril interfacer 1,1016aa) | g.2:27306031C>T,c.1592C>T,p.T531M |
| EMILIN1(NM_007046,elastin microfibril interfacer 1,1016aa) | g.2:27305611C>A,c.1172C>A,p.A391E |
| EMILIN1(NM_007046,elastin microfibril interfacer 1,1016aa) | g.2:27305584G>A,c.1145G>A,p.R382Q |
| EMILIN1(NM_007046,elastin microfibril interfacer 1,1016aa) | g.2:27305026G>T,c.587G>T,p.R196L |
| EMILIN1(NM_007046,elastin microfibril interfacer 1,1016aa) | g.2:27303755A>G,c.446A>G,p.Q149R |
| EMILIN1(NM_007046,elastin microfibril interfacer 1,1016aa) | g.2:27303712C>G,c.403C>G,p.P135A |
| EMID1(NM_133455,EMI domain containing 1,443aa) | g.22:29654917G>A,c.1316G>A,p.R439Q |
| EMID1(NM_133455,EMI domain containing 1,443aa) | g.22:29654862C>T,c.1261C>T,p.R421W |
| EMID1(NM_133455,EMI domain containing 1,443aa) | g.22:29630337G>A,c.1073G>A,p.R358Q |
| EMID1(NM_133455,EMI domain containing 1,443aa) | g.22:29630187G>C,c.1028G>C,p.R343T |
| EMID1(NM_133455,EMI domain containing 1,443aa) | g.22:29628283G>C,c.715G>C,p.A239P |
| EMID1(NM_133455,EMI domain containing 1,443aa) | g.22:29628260C>G,c.692C>G,p.P231R |
| EMID1(NM_133455,EMI domain containing 1,443aa) | g.22:29621188G>A,c.386G>A,p.R129Q |
| EMID1(NM_133455,EMI domain containing 1,443aa) | g.22:29621173G>A,c.371G>A,p.R124Q |
| EMID1(NM_133455,EMI domain containing 1,443aa) | g.22:29621128C>G,c.326C>G,p.A109G |
| EME2(NM_001257370,essential meiotic structure-specific endonuclease subunit 2,379aa) | g.16:1826148G>A,c.1049G>A,p.R350H |
| EME2(NM_001257370,essential meiotic structure-specific endonuclease subunit 2,379aa) | g.16:1825982C>T,c.964C>T,p.Q322X |
| EME2(NM_001257370,essential meiotic structure-specific endonuclease subunit 2,379aa) | g.16:1825974G>A,c.956G>A,p.R319H |
| EME2(NM_001257370,essential meiotic structure-specific endonuclease subunit 2,379aa) | g.16:1825973C>T,c.955C>T,p.R319C |
| EME2(NM_001257370,essential meiotic structure-specific endonuclease subunit 2,379aa) | g.16:1825923G>A,c.905G>A,p.R302Q |
| EME2(NM_001257370,essential meiotic structure-specific endonuclease subunit 2,379aa) | g.16:1825841C>T,c.823C>T,p.R275C |
| EME2(NM_001257370,essential meiotic structure-specific endonuclease subunit 2,379aa) | g.16:1825640G>A,c.734G>A,p.R245Q |