| 基因名 | 突变 |
|---|---|
| KREMEN2(NM_172229,kringle containing transmembrane protein 2,462aa) | g.16:3017854G>C,c.1222G>C,p.A408P |
| KREMEN2(NM_172229,kringle containing transmembrane protein 2,462aa) | g.16:3017852G>A,c.1220G>A,p.G407E |
| KREMEN2(NM_172229,kringle containing transmembrane protein 2,462aa) | g.16:3017124C>A,c.854C>A,p.A285D |
| KREMEN2(NM_172229,kringle containing transmembrane protein 2,462aa) | g.16:3014999C>G,c.234C>G,p.H78Q |
| KREMEN2(NM_172229,kringle containing transmembrane protein 2,462aa) | g.16:3014990C>A,c.225C>A,p.S75R |
| KREMEN1(NM_001039570,kringle containing transmembrane protein 1,458aa) | g.22:29538077C>T,c.1354C>T,p.R452C |
| KREMEN1(NM_001039570,kringle containing transmembrane protein 1,458aa) | g.22:29534713T>G,c.1066T>G,p.S356A |
| KREMEN1(NM_001039570,kringle containing transmembrane protein 1,458aa) | g.22:29534665G>A,c.1018G>A,p.E340K |
| KREMEN1(NM_001039570,kringle containing transmembrane protein 1,458aa) | g.22:29534644G>A,c.997G>A,p.A333T |
| KREMEN1(NM_001039570,kringle containing transmembrane protein 1,458aa) | g.22:29534635G>A,c.988G>A,p.E330K |
| KREMEN1(NM_001039570,kringle containing transmembrane protein 1,458aa) | g.22:29534621A>G,c.974A>G,p.E325G |
| KREMEN1(NM_001039570,kringle containing transmembrane protein 1,458aa) | g.22:29533641G>A,c.943G>A,p.G315R |
| KREMEN1(NM_001039570,kringle containing transmembrane protein 1,458aa) | g.22:29533572C>G,c.874C>G,p.L292V |
| KREMEN1(NM_001039570,kringle containing transmembrane protein 1,458aa) | g.22:29533536G>A,c.838G>A,p.V280I |
| KREMEN1(NM_001039570,kringle containing transmembrane protein 1,458aa) | g.22:29533437C>T,c.739C>T,p.R247W |
| KREMEN1(NM_001039570,kringle containing transmembrane protein 1,458aa) | g.22:29517463G>T,c.471G>T,p.R157S |
| KRCC1(NM_016618,lysine-rich coiled-coil 1,259aa) | g.2:88327833G>A,c.250C>T,p.R84W |
| KRCC1(NM_016618,lysine-rich coiled-coil 1,259aa) | g.2:88327692C>T,c.391G>A,p.G131S |
| KRCC1(NM_016618,lysine-rich coiled-coil 1,259aa) | g.2:88327464C>T,c.619G>A,p.V207I |
| KRBOX4(NM_001129899,KRAB box domain containing 4,98aa) | g.X:46322645C>T,c.155C>T,p.A52V |
| KRBOX1(NM_001205272,KRAB box domain containing 1,128aa) | g.3:42984107C>T,c.355C>T,p.R119C |
| KRBA2(NM_213597,KRAB-A domain containing 2,492aa) | g.17:8274704C>T,c.149G>A,p.W50X |
| KRBA2(NM_213597,KRAB-A domain containing 2,492aa) | g.17:8273654G>A,c.277C>T,p.P93S |
| KRBA2(NM_213597,KRAB-A domain containing 2,492aa) | g.17:8273384G>A,c.547C>T,p.R183X |
| KRBA2(NM_213597,KRAB-A domain containing 2,492aa) | g.17:8273329T>C,c.602A>G,p.H201R |
| KRBA2(NM_213597,KRAB-A domain containing 2,492aa) | g.17:8273108C>T,c.823G>A,p.D275N |
| KRBA2(NM_213597,KRAB-A domain containing 2,492aa) | g.17:8273026G>A,c.905C>T,p.A302V |
| KRBA2(NM_213597,KRAB-A domain containing 2,492aa) | g.17:8273009C>T,c.922G>A,p.V308I |