The UMD-THAP1 mutations database
Large duplications (2 records)

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Pro78AlafsX8	c.230_231insA	2	77	L4-THAP dom.	AVPTIF motif	Large rearrangement	Fr.	Stop at 85	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 167 TAI01TAO F0001 I0001 Male Heterozygous TAIWAN NA 24 172 TAI01TAO F0001 I0002 Male Heterozygous TAIWAN NA 24