Genename Variants
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
This is an excerpt of data-sheet including the published polymorphism sites observed in our studies. For the complete variant lists and potential collaboration, please contact huh@cougarlab.org