Colton > CO*01N.03
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Phenotypes
Coa
Cob
Co3
Co4
Genetic Changes
nt change aa change Exon/Intron HGVS hg19 hg38 rsNum gnomAD
c.576C>A p.Asn192Lys Exon 3 chr7:30,962,205 chr7:30,922,590
 
 
 
 
 
 
 
 
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