ABO > ABO*AW.45
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Phenotypes
A
B
A,B
A1
Genetic Changes
nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
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c.203+1delG | Intron 4 | chr9:136,135,224 | chr9:133,259,808 |
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c.467C>T | p.Pro156Leu | Exon 7 | chr9:136,131,651 | chr9:133,256,235 |
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c.1061delC | p.Pro354Argfs*23 | Exon 7 | chr9:136,131,057 | chr9:133,255,641 |
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Sequence
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