Colton > CO*N.02
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.308_309insT | p.Ala105Glyfs*24 | Exon 1 |
|
chr7:30,951,832 | chr7:30,912,217 |
|
Sequence
None
Publication
None