Dombrock > DO*02N.02
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Phenotypes
Doa
Dob
Gya
Hy
Joa
DOYA
DOMR
DOLG
DOLC
DODE
Genetic Changes
nt change aa change Exon/Intron HGVS hg19 hg38 rsNum gnomAD
c.144+2T>C Intron 1 chr12:14,995,902 chr12:14,842,968
 
Sequence
None
Publication
None