The UMD-THAP1 mutations database
Splice mutations (<10 bp from exon) (2 records)

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
	c.IVS1+9C>A (c.71+9C>A)	1-2	24	BS1-THAP dom.	DNA binding -	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 154 USA02MEN F0008 I0001 Female Heterozygous U.S.A. NA 7
	c.IVS1-4T>C (c.72-4T>C)	1-2	24	BS1-THAP dom.	DNA binding -	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 145 UKD02LON F0004 I0001 Female Heterozygous U.K. NA 8