| 基因名 | 突变 |
|---|---|
| KAL1(NM_000216,Kallmann syndrome 1 sequence,680aa) | g.X:8503796C>T,c.1678G>A,p.V560I |
| KAAG1(NM_181337,kidney associated antigen 1,84aa) | g.6:24358067G>T,c.200G>T,p.G67V |
| KAAG1(NM_181337,kidney associated antigen 1,84aa) | g.6:24358063G>A,c.196G>A,p.A66T |
| JUP(NM_002230,junction plakoglobin,745aa) | g.17:39925782G>A,c.356C>T,p.P119L |
| JUP(NM_002230,junction plakoglobin,745aa) | g.17:39925713C>T,c.425G>A,p.R142H |
| JUP(NM_002230,junction plakoglobin,745aa) | g.17:39925234C>T,c.694G>A,p.V232I |
| JUP(NM_002230,junction plakoglobin,745aa) | g.17:39921271G>A,c.958C>T,p.R320C |
| JUP(NM_002230,junction plakoglobin,745aa) | g.17:39920993C>T,c.1130G>A,p.R377H |
| JUP(NM_002230,junction plakoglobin,745aa) | g.17:39919360C>T,c.1372G>A,p.A458T |
| JUP(NM_002230,junction plakoglobin,745aa) | g.17:39914003C>A,c.1807G>T,p.V603L |
| JUP(NM_002230,junction plakoglobin,745aa) | g.17:39913771C>T,c.1942G>A,p.V648I |
| JUP(NM_002230,junction plakoglobin,745aa) | g.17:39913675A>G,c.2038T>C,p.W680R |
| JUP(NM_002230,junction plakoglobin,745aa) | g.17:39912444T>C,c.2069A>G,p.N690S |
| JUP(NM_002230,junction plakoglobin,745aa) | g.17:39912145T>A,c.2089A>T,p.M697L |
| JUN(NM_002228,jun proto-oncogene,331aa) | g.1:59248123G>T,c.620C>A,p.P207Q |
| JUND(NM_005354,jun D proto-oncogene,347aa) | g.19:18392050G>A,c.245C>T,p.A82V |
| JUND(NM_005354,jun D proto-oncogene,347aa) | g.19:18391934A>T,c.361T>A,p.S121T |
| JUND(NM_005354,jun D proto-oncogene,347aa) | g.19:18391543C>T,c.752G>A,p.S251N |
| JUND(NM_005354,jun D proto-oncogene,347aa) | g.19:18391390G>A,c.905C>T,p.T302I |
| JUNB(NM_002229,jun B proto-oncogene,347aa) | g.19:12902857T>C,c.272T>C,p.I91T |
| JSRP1(NM_144616,junctional sarcoplasmic reticulum protein 1,331aa) | g.19:2255311C>G,c.3G>C,p.M1I |
| JSRP1(NM_144616,junctional sarcoplasmic reticulum protein 1,331aa) | g.19:2254458C>T,c.133G>A,p.G45S |
| JSRP1(NM_144616,junctional sarcoplasmic reticulum protein 1,331aa) | g.19:2254250C>T,c.198G>A,p.M66I |
| JSRP1(NM_144616,junctional sarcoplasmic reticulum protein 1,331aa) | g.19:2253780A>G,c.275T>C,p.V92A |
| JSRP1(NM_144616,junctional sarcoplasmic reticulum protein 1,331aa) | g.19:2253732G>A,c.323C>T,p.P108L |
| JSRP1(NM_144616,junctional sarcoplasmic reticulum protein 1,331aa) | g.19:2252990C>G,c.449G>C,p.G150A |
| JSRP1(NM_144616,junctional sarcoplasmic reticulum protein 1,331aa) | g.19:2252627G>A,c.697C>T,p.R233W |
| JSRP1(NM_144616,junctional sarcoplasmic reticulum protein 1,331aa) | g.19:2252531C>A,c.793G>T,p.E265X |