| 基因名 | 突变 |
|---|---|
| KBTBD12(NM_207335,kelch repeat and BTB (POZ) domain containing 12,623aa) | g.3:127646677G>A,c.1141G>A,p.G381S |
| KBTBD12(NM_207335,kelch repeat and BTB (POZ) domain containing 12,623aa) | g.3:127646669A>G,c.1133A>G,p.Y378C |
| KBTBD12(NM_207335,kelch repeat and BTB (POZ) domain containing 12,623aa) | g.3:127642814G>C,c.910G>C,p.V304L |
| KBTBD12(NM_207335,kelch repeat and BTB (POZ) domain containing 12,623aa) | g.3:127642561A>C,c.657A>C,p.Q219H |
| KBTBD12(NM_207335,kelch repeat and BTB (POZ) domain containing 12,623aa) | g.3:127642506G>A,c.602G>A,p.W201X |
| KBTBD12(NM_207335,kelch repeat and BTB (POZ) domain containing 12,623aa) | g.3:127641968C>A,c.64C>A,p.Q22K |
| KAZN(NM_201628,kazrin, periplakin interacting protein,775aa) | g.1:15441090C>T,c.2287C>T,p.R763C |
| KAZN(NM_201628,kazrin, periplakin interacting protein,775aa) | g.1:15439009G>A,c.2135G>A,p.S712N |
| KAZN(NM_201628,kazrin, periplakin interacting protein,775aa) | g.1:15438990G>A,c.2116G>A,p.A706T |
| KAZN(NM_201628,kazrin, periplakin interacting protein,775aa) | g.1:15438981G>A,c.2107G>A,p.V703I |
| KAZN(NM_201628,kazrin, periplakin interacting protein,775aa) | g.1:15428057G>T,c.1566G>T,p.E522D |
| KAZN(NM_201628,kazrin, periplakin interacting protein,775aa) | g.1:15370588C>T,c.659C>T,p.T220M |
| KAZN(NM_201628,kazrin, periplakin interacting protein,775aa) | g.1:15370498C>T,c.569C>T,p.A190V |
| KAZN(NM_201628,kazrin, periplakin interacting protein,775aa) | g.1:15361359G>A,c.533G>A,p.R178H |
| KAZN(NM_201628,kazrin, periplakin interacting protein,775aa) | g.1:15287270C>T,c.317C>T,p.S106L |
| KAZALD1(NM_030929,Kazal-type serine peptidase inhibitor domain 1,304aa) | g.10:102824367A>G,c.782A>G,p.Q261R |
| KAZALD1(NM_030929,Kazal-type serine peptidase inhibitor domain 1,304aa) | g.10:102824352G>A,c.767G>A,p.R256H |
| KAZALD1(NM_030929,Kazal-type serine peptidase inhibitor domain 1,304aa) | g.10:102824349G>C,c.764G>C,p.G255A |
| KAZALD1(NM_030929,Kazal-type serine peptidase inhibitor domain 1,304aa) | g.10:102824316G>A,c.731G>A,p.R244H |
| KAZALD1(NM_030929,Kazal-type serine peptidase inhibitor domain 1,304aa) | g.10:102824292G>A,c.707G>A,p.G236D |
| KAZALD1(NM_030929,Kazal-type serine peptidase inhibitor domain 1,304aa) | g.10:102822575T>G,c.226T>G,p.C76G |
| KAZALD1(NM_030929,Kazal-type serine peptidase inhibitor domain 1,304aa) | g.10:102822560A>T,c.211A>T,p.R71W |
| KAZALD1(NM_030929,Kazal-type serine peptidase inhibitor domain 1,304aa) | g.10:102822500G>A,c.151G>A,p.E51K |
| KATNBL1(NM_024713,katanin p80 subunit B-like 1,304aa) | g.15:34455867T>G,c.11A>C,p.E4A |
| KATNBL1(NM_024713,katanin p80 subunit B-like 1,304aa) | g.15:34437652C>T,c.829G>A,p.E277K |
| KATNB1(NM_005886,katanin p80 (WD repeat containing) subunit B 1,655aa) | g.16:57789754C>T,c.1568C>T,p.T523M |
| KATNB1(NM_005886,katanin p80 (WD repeat containing) subunit B 1,655aa) | g.16:57789088C>T,c.1354C>T,p.P452S |
| KATNB1(NM_005886,katanin p80 (WD repeat containing) subunit B 1,655aa) | g.16:57789053C>G,c.1319C>G,p.P440R |