Colton > CO*01N.05
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Phenotypes
Coa
Cob
Co3
Co4
Genetic Changes
nt change aa change Exon/Intron HGVS hg19 hg38 rsNum gnomAD
c.112C>T p.Pro38Ser Exon 1 chr7:30,951,636 chr7:30,912,021
 
 
 
 
 
 
 
 
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