| 基因名 | 突变 |
|---|---|
| CLN5(NM_006493,ceroid-lipofuscinosis, neuronal 5,407aa) | g.13:77574962T>C,c.1082T>C,p.F361S |
| CLN5(NM_006493,ceroid-lipofuscinosis, neuronal 5,407aa) | g.13:77574606C>A,c.726C>A,p.N242K |
| CLN5(NM_006493,ceroid-lipofuscinosis, neuronal 5,407aa) | g.13:77570121G>C,c.571G>C,p.G191R |
| CLN5(NM_006493,ceroid-lipofuscinosis, neuronal 5,407aa) | g.13:77569212G>A,c.335G>A,p.R112H |
| CLN5(NM_006493,ceroid-lipofuscinosis, neuronal 5,407aa) | g.13:77566309T>C,c.223T>C,p.W75R |
| CLN5(NM_006493,ceroid-lipofuscinosis, neuronal 5,407aa) | g.13:77566238C>T,c.152C>T,p.A51V |
| CLN5(NM_006493,ceroid-lipofuscinosis, neuronal 5,407aa) | g.13:77566147C>T,c.61C>T,p.P21S |
| CLN5(NM_006493,ceroid-lipofuscinosis, neuronal 5,407aa) | g.13:77566135G>C,c.49G>C,p.G17R |
| CLN5(NM_006493,ceroid-lipofuscinosis, neuronal 5,407aa) | g.13:77566090C>T,c.4C>T,p.R2C |
| CLN3(NM_001042432,ceroid-lipofuscinosis, neuronal 3,438aa) | g.16:28499964G>A,c.242C>T,p.P81L |
| CLN3(NM_001042432,ceroid-lipofuscinosis, neuronal 3,438aa) | g.16:28499044T>C,c.313A>G,p.I105V |
| CLN3(NM_001042432,ceroid-lipofuscinosis, neuronal 3,438aa) | g.16:28498858G>A,c.379C>T,p.R127W |
| CLN3(NM_001042432,ceroid-lipofuscinosis, neuronal 3,438aa) | g.16:28497729C>T,c.616G>A,p.G206S |
| CLN3(NM_001042432,ceroid-lipofuscinosis, neuronal 3,438aa) | g.16:28495335G>A,c.782C>T,p.S261L |
| CLN3(NM_001042432,ceroid-lipofuscinosis, neuronal 3,438aa) | g.16:28493651C>T,c.959G>A,p.R320H |
| CLN3(NM_001042432,ceroid-lipofuscinosis, neuronal 3,438aa) | g.16:28493460C>T,c.1022G>A,p.R341H |
| CLN3(NM_001042432,ceroid-lipofuscinosis, neuronal 3,438aa) | g.16:28489169G>C,c.1086C>G,p.D362E |
| CLN3(NM_001042432,ceroid-lipofuscinosis, neuronal 3,438aa) | g.16:28488943T>C,c.1211A>G,p.H404R |
| CLMP(NM_024769,CXADR-like membrane protein,373aa) | g.11:122955402C>T,c.206G>A,p.R69H |
| CLMP(NM_024769,CXADR-like membrane protein,373aa) | g.11:122944456C>T,c.848G>A,p.R283H |
| CLMN(NM_024734,calmin (calponin-like, transmembrane),1002aa) | g.14:95688060C>T,c.292G>A,p.A98T |
| CLMN(NM_024734,calmin (calponin-like, transmembrane),1002aa) | g.14:95679692G>C,c.472C>G,p.P158A |
| CLMN(NM_024734,calmin (calponin-like, transmembrane),1002aa) | g.14:95677188C>T,c.637G>A,p.G213S |
| CLMN(NM_024734,calmin (calponin-like, transmembrane),1002aa) | g.14:95677175C>T,c.650G>A,p.S217N |
| CLMN(NM_024734,calmin (calponin-like, transmembrane),1002aa) | g.14:95677090T>G,c.735A>C,p.E245D |
| CLMN(NM_024734,calmin (calponin-like, transmembrane),1002aa) | g.14:95675791C>T,c.826G>A,p.E276K |
| CLMN(NM_024734,calmin (calponin-like, transmembrane),1002aa) | g.14:95670707C>T,c.979G>A,p.V327I |
| CLMN(NM_024734,calmin (calponin-like, transmembrane),1002aa) | g.14:95670677T>C,c.1009A>G,p.T337A |