Gerbich > GE*01N.02
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Phenotypes
Ge2
Ge3
Ge4
Wb
Lsa
Ana
Dha
GEIS
GEPL
GEAT
GETI
Genetic Changes
nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
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c.131G>T | p.Trp44Leu | Exon 3 | chr2:127,451,464 | chr2:126,693,888 |
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c.134delC | p.Pro45Argfs*12 | Exon 3 | chr2:127,451,467 | chr2:126,693,891 |
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Sequence
None
Publication
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