| 基因名 | 突变 |
|---|---|
| NLRC3(NM_178844,NLR family, CARD domain containing 3,1065aa) | g.16:3606931G>A,c.2164C>T,p.R722C |
| NLRC3(NM_178844,NLR family, CARD domain containing 3,1065aa) | g.16:3602242C>T,c.2306G>A,p.R769Q |
| NLRC3(NM_178844,NLR family, CARD domain containing 3,1065aa) | g.16:3602228G>A,c.2320-1C>T,p.774Acceptor |
| NLRC3(NM_178844,NLR family, CARD domain containing 3,1065aa) | g.16:3602228del,c.2320-1del,p.774Acceptordel |
| NLRC3(NM_178844,NLR family, CARD domain containing 3,1065aa) | g.16:3599220C>T,c.2525G>A,p.R842Q |
| NLRC3(NM_178844,NLR family, CARD domain containing 3,1065aa) | g.16:3599200C>T,c.2545G>A,p.E849K |
| NLRC3(NM_178844,NLR family, CARD domain containing 3,1065aa) | g.16:3598190C>T,c.2716G>A,p.A906T |
| NLRC3(NM_178844,NLR family, CARD domain containing 3,1065aa) | g.16:3594316C>T,c.2785G>A,p.A929T |
| NLRC3(NM_178844,NLR family, CARD domain containing 3,1065aa) | g.16:3593426C>T,c.2938G>A,p.D980N |
| NLRC3(NM_178844,NLR family, CARD domain containing 3,1065aa) | g.16:3592758A>G,c.2957T>C,p.I986T |
| NLN(NM_020726,neurolysin (metallopeptidase M3 family),704aa) | g.5:65118738C>T,c.2110C>T,p.P704S |
| NLN(NM_020726,neurolysin (metallopeptidase M3 family),704aa) | g.5:65105879G>A,c.1730G>A,p.R577H |
| NLN(NM_020726,neurolysin (metallopeptidase M3 family),704aa) | g.5:65088405C>T,c.1450C>T,p.P484S |
| NLN(NM_020726,neurolysin (metallopeptidase M3 family),704aa) | g.5:65088349G>A,c.1394G>A,p.R465Q |
| NLN(NM_020726,neurolysin (metallopeptidase M3 family),704aa) | g.5:65084101A>G,c.1115A>G,p.K372R |
| NLN(NM_020726,neurolysin (metallopeptidase M3 family),704aa) | g.5:65083952A>C,c.966A>C,p.L322F |
| NLN(NM_020726,neurolysin (metallopeptidase M3 family),704aa) | g.5:65081722G>A,c.943G>A,p.V315I |
| NLN(NM_020726,neurolysin (metallopeptidase M3 family),704aa) | g.5:65054591T>C,c.239T>C,p.I80T |
| NLN(NM_020726,neurolysin (metallopeptidase M3 family),704aa) | g.5:65054587G>A,c.235G>A,p.G79S |
| NLK(NM_016231,nemo-like kinase,527aa) | g.17:26370277T>G,c.378T>G,p.H126Q |
| NLGN4X(NM_001282145,neuroligin 4, X-linked,816aa) | g.X:6069393T>C,c.115A>G,p.I39V |
| NLGN4X(NM_001282145,neuroligin 4, X-linked,816aa) | g.X:6069116T>C,c.392A>G,p.N131S |
| NLGN4X(NM_001282145,neuroligin 4, X-linked,816aa) | g.X:6069095T>A,c.413A>T,p.Y138F |
| NLGN4X(NM_001282145,neuroligin 4, X-linked,816aa) | g.X:5821608C>T,c.1111G>A,p.V371I |
| NLGN4X(NM_001282145,neuroligin 4, X-linked,816aa) | g.X:5821586T>C,c.1133A>G,p.K378R |
| NLGN3(NM_181303,neuroligin 3,848aa) | g.X:70387645G>A,c.1698G>A,p.K566K |
| NLGN3(NM_181303,neuroligin 3,848aa) | g.X:70375070G>A,c.584G>A,p.R195Q |
| NLGN3(NM_181303,neuroligin 3,848aa) | g.X:70367808_70367809insG,c.209_210insG,p.70fs |