CD59 > CD59*01N.02
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Phenotypes
CD59.1
Genetic Changes
nt change aa change Exon/Intron HGVS hg19 hg38 rsNum gnomAD
c.123+361delC Intron 1 chr11:33,738,601 chr11:33,717,055
 
c.123delC p.Val42Serfs*38 Exon 5 chr11:33,738,962 chr11:33,717,416
 
c.361delG Exon 6 chr11:33,731,698 chr11:33,710,152
 
Sequence
None
Publication
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