| 基因名 | 突变 |
|---|---|
| KHDC3L(NM_001017361,KH domain containing 3-like, subcortical maternal complex member,217aa) | g.6:74072550G>T,c.98G>T,p.W33L |
| KHDC3L(NM_001017361,KH domain containing 3-like, subcortical maternal complex member,217aa) | g.6:74072466G>A,c.14G>A,p.R5K |
| KHDC1(NM_001251874,KH homology domain containing 1,237aa) | g.6:74019389del,c.49del,p.17fs |
| KHDC1(NM_001251874,KH homology domain containing 1,237aa) | g.6:74019376T>C,c.62A>G,p.Y21C |
| KHDC1(NM_001251874,KH homology domain containing 1,237aa) | g.6:74019338G>A,c.100C>T,p.Q34X |
| KHDC1(NM_001251874,KH homology domain containing 1,237aa) | g.6:73952209T>C,c.251A>G,p.K84R |
| KHDC1(NM_001251874,KH homology domain containing 1,237aa) | g.6:73951940G>A,c.352C>T,p.R118C |
| KHDC1(NM_001251874,KH homology domain containing 1,237aa) | g.6:73951870C>T,c.422G>A,p.R141H |
| KHDC1(NM_001251874,KH homology domain containing 1,237aa) | g.6:73951389T>C,c.577A>G,p.I193V |
| KHDC1L(NM_001126063,KH homology domain containing 1-like,128aa) | g.6:73935068A>C,c.64T>G,p.S22A |
| KERA(NM_007035,keratocan,352aa) | g.12:91449973A>G,c.86T>C,p.V29A |
| KERA(NM_007035,keratocan,352aa) | g.12:91449706C>T,c.353G>A,p.S118N |
| KERA(NM_007035,keratocan,352aa) | g.12:91445245G>A,c.937C>T,p.R313X |
| KERA(NM_007035,keratocan,352aa) | g.12:91445215G>A,c.967C>T,p.R323C |
| KEL(NM_000420,Kell blood group, metallo-endopeptidase,732aa) | g.7:142659292A>G,c.2T>C,p.M1T |
| KEL(NM_000420,Kell blood group, metallo-endopeptidase,732aa) | g.7:142658564C>T,c.106G>A,p.V36M |
| KEL(NM_000420,Kell blood group, metallo-endopeptidase,732aa) | g.7:142658027G>A,c.388C>T,p.R130W |
| KEL(NM_000420,Kell blood group, metallo-endopeptidase,732aa) | g.7:142658026C>T,c.389G>A,p.R130Q |
| KEL(NM_000420,Kell blood group, metallo-endopeptidase,732aa) | g.7:142655008G>A,c.578C>T,p.T193M |
| KEL(NM_000420,Kell blood group, metallo-endopeptidase,732aa) | g.7:142651354G>A,c.841C>T,p.R281W |
| KEL(NM_000420,Kell blood group, metallo-endopeptidase,732aa) | g.7:142651320C>T,c.875G>A,p.R292Q |
| KEL(NM_000420,Kell blood group, metallo-endopeptidase,732aa) | g.7:142651317C>T,c.878G>A,p.R293Q |
| KEL(NM_000420,Kell blood group, metallo-endopeptidase,732aa) | g.7:142651290A>G,c.905T>C,p.V302A |
| KEL(NM_000420,Kell blood group, metallo-endopeptidase,732aa) | g.7:142651282C>T,c.913G>A,p.D305N |
| KEL(NM_000420,Kell blood group, metallo-endopeptidase,732aa) | g.7:142649646G>A,c.1153C>T,p.R385C |
| KEL(NM_000420,Kell blood group, metallo-endopeptidase,732aa) | g.7:142643346G>A,c.1262C>T,p.T421M |
| KEL(NM_000420,Kell blood group, metallo-endopeptidase,732aa) | g.7:142643310G>A,c.1298C>T,p.P433L |
| KEL(NM_000420,Kell blood group, metallo-endopeptidase,732aa) | g.7:142643301C>T,c.1307G>A,p.R436Q |