ABO > ABO*O.01.39
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Phenotypes
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A,B
A1
Genetic Changes
nt change aa change Exon/Intron HGVS hg19 hg38 rsNum gnomAD
c.220C>T p.Pro74Ser Exon 5 chr9:136,133,508 chr9:133,258,092
 
c.261delG p.Thr88Profs*31 Exon 6 chr9:136,132,909 chr9:133,257,493
 
c.297A>G Exon 6 chr9:136,132,873 chr9:133,257,457
 
c.681G>A Exon 7 chr9:136,131,437 chr9:133,256,021
 
c.771C>T Exon 7 chr9:136,131,347 chr9:133,255,931
 
c.829G>A p.Val277Met Exon 7 chr9:136,131,289 chr9:133,255,873
 
Sequence
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