The UMD-THAP1 mutations database
Indels (26 records)

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
	c.135_139delinsGGGTTTA	2	45	L3-THAP dom.	DNA binding -	Small rearrangement	indels	indels	26
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 98 USA01NYO F0013 I0001 Unknown Heterozygous U.S.A. Reduced nuclear import 2 73 USA01NYO F0002 I0001 Male Heterozygous AMISH-MENNONITE Reduced nuclear import 1 74 USA01NYO F0002 I0002 Male Heterozygous AMISH-MENNONITE Reduced nuclear import 1 75 USA01NYO F0003 I0001 Male Heterozygous AMISH-MENNONITE Reduced nuclear import 1 76 USA01NYO F0003 I0002 Male Heterozygous AMISH-MENNONITE Reduced nuclear import 1 77 USA01NYO F0003 I0003 Female Heterozygous AMISH-MENNONITE Reduced nuclear import 1 78 USA01NYO F0003 I0004 Female Heterozygous AMISH-MENNONITE Reduced nuclear import 1 79 USA01NYO F0003 I0005 Male Heterozygous AMISH-MENNONITE Reduced nuclear import 1 80 USA01NYO F0003 I0006 Female Heterozygous AMISH-MENNONITE Reduced nuclear import 1 81 USA01NYO F0003 I0007 Female Heterozygous AMISH-MENNONITE Reduced nuclear import 1 82 USA01NYO F0003 I0008 Female Heterozygous AMISH-MENNONITE Reduced nuclear import 1 83 USA01NYO F0003 I0009 Female Heterozygous AMISH-MENNONITE Reduced nuclear import 1 84 USA01NYO F0003 I0010 Male Heterozygous AMISH-MENNONITE Reduced nuclear import 1 85 USA01NYO F0003 I0011 Female Heterozygous AMISH-MENNONITE Reduced nuclear import 1 86 USA01NYO F0003 I0012 Female Heterozygous AMISH-MENNONITE Reduced nuclear import 1 87 USA01NYO F0003 I0013 Female Heterozygous AMISH-MENNONITE Reduced nuclear import 1 88 USA01NYO F0003 I0014 Female Heterozygous AMISH-MENNONITE Reduced nuclear import 1 89 USA01NYO F0003 I0015 Male Heterozygous AMISH-MENNONITE Reduced nuclear import 1 90 USA01NYO F0004 I0001 Male Heterozygous AMISH-MENNONITE Reduced nuclear import 1 91 USA01NYO F0004 I0002 Female Heterozygous AMISH-MENNONITE Reduced nuclear import 1 92 USA01NYO F0004 I0003 Female Heterozygous AMISH-MENNONITE Reduced nuclear import 1 93 USA01NYO F0004 I0004 Female Heterozygous AMISH-MENNONITE Reduced nuclear import 1 94 USA01NYO F0004 I0005 Female Heterozygous AMISH-MENNONITE Reduced nuclear import 1 95 USA01NYO F0004 I0006 Female Heterozygous AMISH-MENNONITE Reduced nuclear import 1 96 USA01NYO F0005 I0001 Male Heterozygous AMISH-MENNONITE Reduced nuclear import 1 97 USA01NYO F0005 I0002 Male Heterozygous AMISH-MENNONITE Reduced nuclear import 1