Colton > CO*01N.04
Allele Information
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Phenotypes
Coa
Cob
Co3
Co4
Genetic Changes
| nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
|---|---|---|---|---|---|---|---|
| c.232delG | p.Ala78Leufs*42 | Exon 1 |
|
chr7:30,951,756 | chr7:30,912,141 |
|
Sequence
None
Publication
None