| 基因名 | 突变 |
|---|---|
| CLP1(NM_006831,cleavage and polyadenylation factor I subunit 1,425aa) | g.11:57427050G>T,c.102G>T,p.Q34H |
| CLOCK(NM_001267843,clock circadian regulator,846aa) | g.4:56344993C>T,c.245G>A,p.R82Q |
| CLOCK(NM_001267843,clock circadian regulator,846aa) | g.4:56325365G>C,c.623C>G,p.S208C |
| CLOCK(NM_001267843,clock circadian regulator,846aa) | g.4:56319244G>T,c.1183C>A,p.L395I |
| CLOCK(NM_001267843,clock circadian regulator,846aa) | g.4:56310867T>C,c.1625A>G,p.H542R |
| CLOCK(NM_001267843,clock circadian regulator,846aa) | g.4:56308687C>T,c.2017G>A,p.G673R |
| CLOCK(NM_001267843,clock circadian regulator,846aa) | g.4:56304494T>A,c.2316A>T,p.Q772H |
| CLNS1A(NM_001293,chloride channel, nucleotide-sensitive, 1A,237aa) | g.11:77336776C>G,c.350G>C,p.S117T |
| CLNK(NM_052964,cytokine-dependent hematopoietic cell linker,428aa) | g.4:10599639C>T,c.46G>A,p.D16N |
| CLNK(NM_052964,cytokine-dependent hematopoietic cell linker,428aa) | g.4:10586571G>A,c.92C>T,p.P31L |
| CLNK(NM_052964,cytokine-dependent hematopoietic cell linker,428aa) | g.4:10567732T>C,c.193A>G,p.S65G |
| CLNK(NM_052964,cytokine-dependent hematopoietic cell linker,428aa) | g.4:10567687A>G,c.238T>C,p.W80R |
| CLNK(NM_052964,cytokine-dependent hematopoietic cell linker,428aa) | g.4:10527468C>A,c.728G>T,p.S243I |
| CLNK(NM_052964,cytokine-dependent hematopoietic cell linker,428aa) | g.4:10492099G>A,c.1279C>T,p.P427S |
| CLN8(NM_018941,ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation),286aa) | g.8:1728597C>T,c.725C>T,p.T242M |
| CLN8(NM_018941,ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation),286aa) | g.8:1728557C>G,c.685C>G,p.P229A |
| CLN8(NM_018941,ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation),286aa) | g.8:1719675A>G,c.455A>G,p.N152S |
| CLN8(NM_018941,ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation),286aa) | g.8:1719594A>G,c.374A>G,p.N125S |
| CLN8(NM_018941,ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation),286aa) | g.8:1719510G>A,c.290G>A,p.R97H |
| CLN8(NM_018941,ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation),286aa) | g.8:1719500G>A,c.280G>A,p.D94N |
| CLN8(NM_018941,ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation),286aa) | g.8:1719332G>A,c.112G>A,p.V38I |
| CLN6(NM_017882,ceroid-lipofuscinosis, neuronal 6, late infantile, variant,311aa) | g.15:68521918T>C,c.5A>G,p.E2G |
| CLN6(NM_017882,ceroid-lipofuscinosis, neuronal 6, late infantile, variant,311aa) | g.15:68521889C>T,c.34G>A,p.A12T |
| CLN6(NM_017882,ceroid-lipofuscinosis, neuronal 6, late infantile, variant,311aa) | g.15:68506711C>G,c.214G>C,p.E72Q |
| CLN6(NM_017882,ceroid-lipofuscinosis, neuronal 6, late infantile, variant,311aa) | g.15:68504192G>A,c.307C>T,p.R103W |
| CLN6(NM_017882,ceroid-lipofuscinosis, neuronal 6, late infantile, variant,311aa) | g.15:68504171G>A,c.328C>T,p.R110C |
| CLN6(NM_017882,ceroid-lipofuscinosis, neuronal 6, late infantile, variant,311aa) | g.15:68500524del,c.890del,p.297fs |
| CLN5(NM_006493,ceroid-lipofuscinosis, neuronal 5,407aa) | g.13:77574983A>G,c.1103A>G,p.K368R |