| 基因名 | 突变 |
|---|---|
| NID1(NM_002508,nidogen 1,1247aa) | g.1:236143189C>T,c.3442G>A,p.E1148K |
| NID1(NM_002508,nidogen 1,1247aa) | g.1:236143150T>G,c.3481A>C,p.K1161Q |
| NID1(NM_002508,nidogen 1,1247aa) | g.1:236143144G>C,c.3487C>G,p.L1163V |
| NID1(NM_002508,nidogen 1,1247aa) | g.1:236141234G>A,c.3677C>T,p.T1226I |
| NID1(NM_002508,nidogen 1,1247aa) | g.1:236141174T>C,c.3737A>G,p.Q1246R |
| NICN1(NM_032316,nicolin 1,213aa) | g.3:49463396G>A,c.343C>T,p.R115C |
| NICN1(NM_032316,nicolin 1,213aa) | g.3:49462410T>C,c.572A>G,p.H191R |
| NHS(NM_198270,Nance-Horan syndrome (congenital cataracts and dental anomalies),1630aa) | g.X:17750294T>A,c.4603T>A,p.S1535T |
| NHS(NM_198270,Nance-Horan syndrome (congenital cataracts and dental anomalies),1630aa) | g.X:17746354G>C,c.4065G>C,p.Q1355H |
| NHS(NM_198270,Nance-Horan syndrome (congenital cataracts and dental anomalies),1630aa) | g.X:17746256T>C,c.3967T>C,p.F1323L |
| NHS(NM_198270,Nance-Horan syndrome (congenital cataracts and dental anomalies),1630aa) | g.X:17746244T>C,c.3955T>C,p.F1319L |
| NHS(NM_198270,Nance-Horan syndrome (congenital cataracts and dental anomalies),1630aa) | g.X:17746155G>T,c.3866G>T,p.G1289V |
| NHS(NM_198270,Nance-Horan syndrome (congenital cataracts and dental anomalies),1630aa) | g.X:17745687del,c.3398del,p.1133fs |
| NHS(NM_198270,Nance-Horan syndrome (congenital cataracts and dental anomalies),1630aa) | g.X:17745441C>T,c.3152C>T,p.T1051I |
| NHS(NM_198270,Nance-Horan syndrome (congenital cataracts and dental anomalies),1630aa) | g.X:17745017G>T,c.2728G>T,p.D910Y |
| NHS(NM_198270,Nance-Horan syndrome (congenital cataracts and dental anomalies),1630aa) | g.X:17744819G>A,c.2530G>A,p.A844T |
| NHS(NM_198270,Nance-Horan syndrome (congenital cataracts and dental anomalies),1630aa) | g.X:17744451G>A,c.2162G>A,p.R721H |
| NHS(NM_198270,Nance-Horan syndrome (congenital cataracts and dental anomalies),1630aa) | g.X:17744430G>A,c.2141G>A,p.R714H |
| NHS(NM_198270,Nance-Horan syndrome (congenital cataracts and dental anomalies),1630aa) | g.X:17744345G>T,c.2056G>T,p.A686S |
| NHS(NM_198270,Nance-Horan syndrome (congenital cataracts and dental anomalies),1630aa) | g.X:17743940C>T,c.1651C>T,p.P551S |
| NHS(NM_198270,Nance-Horan syndrome (congenital cataracts and dental anomalies),1630aa) | g.X:17710502C>G,c.766C>G,p.L256V |
| NHS(NM_198270,Nance-Horan syndrome (congenital cataracts and dental anomalies),1630aa) | g.X:17705886G>A,c.590G>A,p.S197N |
| NHS(NM_198270,Nance-Horan syndrome (congenital cataracts and dental anomalies),1630aa) | g.X:17705883A>G,c.587A>G,p.E196G |
| NHSL2(NM_001013627,NHS-like 2,1225aa) | g.X:71363268C>A,c.3522C>A,p.D1174E |
| NHSL2(NM_001013627,NHS-like 2,1225aa) | g.X:71360204A>G,c.2806A>G,p.R936G |
| NHSL2(NM_001013627,NHS-like 2,1225aa) | g.X:71360126A>G,c.2728A>G,p.I910V |
| NHSL2(NM_001013627,NHS-like 2,1225aa) | g.X:71360100C>T,c.2702C>T,p.T901I |
| NHSL2(NM_001013627,NHS-like 2,1225aa) | g.X:71360069G>A,c.2671G>A,p.V891I |