The UMD-THAP1 mutations database
Small lesions (179 records)

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Met1?	c.1A>G	1	1	THAP dom.		Small rearrangement	Ts	A->G	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 52 BRA01SAO F0001 I0001 Female Heterozygous BRAZIL NA 14 58 BRA01SAO F0001 I0002 Male Heterozygous BRAZIL NA 14 206 BRA01SAO F0001 I0003 Male Heterozygous BRAZIL NA 35 207 BRA01SAO F0001 I0004 Male Heterozygous BRAZIL NA 35
p.Met1?	c.2delT	1	1	THAP dom.		Small rearrangement	Fr.	Stop at 72	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2 USA01NYO F0006 I0001 Female Heterozygous U.S.A. NA 2
p.Gln3X	c.7C>T	1	3	L1-THAP dom.		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 20 UKD02LON F0001 I0001 Female Heterozygous U.K. NA 8
p.Cys5Trp	c.15C>G	1	5	L1-THAP dom.	C2CH motif	Small rearrangement	Tv	C->G	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 214 POL01WAR F0001 I0001 Female Heterozygous POLANDf NA 34 215 POL01WAR F0001 I0002 Female Heterozygous POLAND NA 34 216 POL01WAR F0001 I0003 Male Heterozygous POLANDf NA 34
p.Ser6Pro	c.16T>C	1	6	L1-THAP dom.		Small rearrangement	Ts	T->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 53 FRA02PAR F0261 I0003 Male Heterozygous FRANCE NA 15 59 FRA02PAR F0261 I0005 Female Heterozygous FRANCE NA 15
p.Ser6Phe	c.17C>T	1	6	L1-THAP dom.		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 21 UKD02LON F0002 I0001 Female Heterozygous GERMANY NA 8
p.Ala7Asp	c.20C>A	1	7	L1-THAP dom.		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 168 USA02MEN F0007 I0001 Male Heterozygous U.S.A. NA 25
p.Ala7GlufsX23	c.20_33del	1	7	L1-THAP dom.		Small rearrangement	Fr.	Stop at 29	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 54 FRA02PAR F0353 I0009 Male Heterozygous FRANCE NA 15
p.Tyr8Cys	c.23A>G	1	8	L1-THAP dom.		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 22 UKD02LON F0003 I0001 Male Heterozygous FRANCE NA 8
p.Gly9Cys	c.25G>T	1	9	L1-THAP dom.		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 30 USA02MEN F0001 I0001 Female Heterozygous U.S.A. NA 7 60 USA02MEN F0001 I0002 Female Heterozygous U.S.A. NA 7
p.Asn12Lys	c.36C>A	1	12	L1-THAP dom.		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3 USA01NYO F0007 I0001 Unknown Heterozygous U.S.A. NA 2
p.Arg13His	c.38G>A	1	13	L1-THAP dom.		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 38 GER01LUB F0003 I0001 Male Heterozygous GERMANY NA 9 61 GER01LUB F0003 I0002 Female Heterozygous GERMANY NA 9
p.Lys16Glu	c.46A>G	1	16	L1-THAP dom.		Small rearrangement	Ts	A->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 161 GER01LUB F0008 I0001 Female Heterozygous CANADA NA 22 177 USA02MEN F0011 I0001 Male Heterozygous U.S.A. NA 25
p.Asp17Gly	c.50A>G	1	17	L1-THAP dom.		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 32 USA02MEN F0003 I0001 Female Heterozygous U.S.A. NA 7
p.Pro19Pro	c.57C>T	1	19	L1-THAP dom.		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 153 USA02MEN F0007 I0001 Female Heterozygous U.S.A. NA 7
p.Ser21Thr	c.61T>A	1	21	L1-THAP dom.		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 4 USA01NYO F0008 I0001 Unknown Heterozygous U.S.A. NA 2
p.Ser21Cys	c.62C>G	1	21	L1-THAP dom.		Small rearrangement	Tv	C->G	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 164 SER01BEL F0001 I0001 Male Heterozygous SERBIA NA 23 190 SER01BEL F0004 I0001 Female Heterozygous SERBIA NA 23 176 USA02MEN F0010 I0001 Male Heterozygous NA NA 25 194 USA02MEN F0010 I0002 Female Heterozygous NA NA 25
p.Ser21Phe	c.62C>T	1	21	L1-THAP dom.		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 200 BRA01SAO F0004 I0001 Female Heterozygous BRAZIL NA 35 201 BRA01SAO F0004 I0002 Female Heterozygous BRAZIL NA 35
p.Phe22ThrfsX50	c.63_66delTTTC	1	21	L1-THAP dom.		Small rearrangement	Fr.	Stop at 71	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 149 CHI01PEK F0003 F0002 Female Heterozygous CHINA NA 20 146 CHI01PEK F0003 F0001 Male Heterozygous CHINA NA 20
p.His23Pro	c.68A>C	1	23	BS1-THAP dom.		Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 162 GER01LUB F0005 I0001 Male Heterozygous GERMANY NA 19
p.Lys24Glu	c.70A>G	1-2	24	BS1-THAP dom.	DNA binding -	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 159 GER01LUB F0007 I0001 Female Heterozygous GERMANY NA 22
	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
p.Pro26Arg	c.77C>G	2	26	L2-THAP dom.	DNA binding -	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 24 UKD02LON F0004 I0001 Female Heterozygous U.K. NA 8
p.Pro26Leu	c.77C>T	2	26	L2-THAP dom.	DNA binding -	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 163 GER01LUB F0009 I0001 Male Heterozygous GERMANY NA 22
p.Thr28Ile	c.83C>T	2	28	L2-THAP dom.		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 203 BRA01SAO F0006 I0001 Male Heterozygous BRAZIL NA 35 204 BRA01SAO F0006 I0002 Male Heterozygous BRAZIL NA 35
p.Arg29X	c.85C>T	2	29	L2-THAP dom.	DNA binding -	Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 5 USA01NYO F0009 I0001 Unknown Heterozygous U.S.A. Reduced nuclear import 2 165 SER01BEL F0002 I0001 Male Heterozygous SERBIA Reduced nuclear import 23
p.Arg29Gln	c.86G>A	2	29	L2-THAP dom.	DNA binding -	Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17 UKD01LON F0001 I0001 Male Heterozygous SPAIN NA 5 18 UKD01LON F0002 I0001 Male Heterozygous SPAIN NA 5 169 USA02MEN F0008 I0001 Male Heterozygous U.S.A. NA 25
p.Arg29Pro	c.86G>C	2	29	L2-THAP dom.	DNA binding -	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6 USA01NYO F0010 I0001 Unknown Heterozygous U.S.A. NA 2
p.Pro30His	c.89C>A	2	30	L2-THAP dom.		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 222 JAP01TOK F0003 I0001 Male Heterozygous JAPAN NA 38
p.Pro30Arg	c.89C>G	2	30	L2-THAP dom.		Small rearrangement	Tv	C->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 99 CZE01PRA F0001 I0002 Female Heterozygous CZECH NA 16 100 CZE01PRA F0001 I0001 Male Heterozygous CZECH NA 16
p.Leu32His	c.95T>A	2	32	L2-THAP dom.	AA interactions	Small rearrangement	Tv	T->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 101 GER01LUB F0004 I0001 Female Homozygous IRAN NA 17 102 GER01LUB F0004 I0002 Female Homozygous IRAN NA 17 103 GER01LUB F0004 I0003 Female Homozygous IRAN NA 17
p.Glu37GlyfsX10	c.109dup	2	37	AH1-THAP dom.	DNA binding -	Small rearrangement	Fr.	Stop at 46	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 198 BRA01SAO F0003 I0001 Female Heterozygous BRAZIL NA 35 199 BRA01SAO F0003 I0002 Female Heterozygous BRAZIL NA 35
p.Ala39Thr	c.115G>A	2	39	AH1-THAP dom.	AA interactions	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7 USA01NYO F0011 I0001 Unknown Heterozygous U.S.A. NA 2
p.Glu37_Asn44dup	c.109_132dup	2	45	L3-THAP dom.	DNA binding -	Small rearrangement	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 166 SER01BEL F0003 I0001 Female Heterozygous SERBIA NA 23
	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 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 98 USA01NYO F0013 I0001 Unknown Heterozygous U.S.A. Reduced nuclear import 2
p.Tyr50X	c.150T>G	2	50	L3-THAP dom.	DNA binding -	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 25 UKD02LON F0005 I0001 Female Heterozygous JEWISH NA 8
p.Ser51Gly	c.151A>G	2	51	L3-THAP dom.		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 175 NET01AMS F0004 I0001 Female Heterozygous NETHERLAND NA 29
p.Cys54Tyr	c.161G>A	2	54	BS2-THAP dom.	C2CH motif	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 104 USA01NYO F0014 I0001 Male Heterozygous U.S.A. NA 18
p.Cys54Phe	c.161G>T	2	54	BS2-THAP dom.	C2CH motif	Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 150 CHI01PEK F0004 I0002 Male Heterozygous CHINA NA 20 147 CHI01PEK F0004 I0001 Female Heterozygous CHINA NA 20
p.Glu56Gly	c.167A>G	2	56	H2-THAP dom.		Small rearrangement	Ts	A->G	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 217 POL02LOD F0001 I0001 Male Heterozygous POLAND NA 37 218 POL02LOD F0001 I0002 Male Heterozygous POLAND NA 37 219 POL02LOD F0001 I0003 Female Heterozygous POLAND NA 37 220 POL02LOD F0001 I0004 Male Heterozygous POLAND NA 37
p.His57Asn	c.169C>A	2	57	H2-THAP dom.	C2CH motif	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 42 GER02TUE F0001 I0001 Female Heterozygous GERMANY NA 12
p.Phe58Ser	c.173T>C	2	58	THAP dom.	DNA binding -	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 223 JAP01TOK F0004 I0001 Female Heterozygous JAPAN NA 38
p.Phe58LeufsX15	c.174delT	2	58	THAP dom.	DNA binding -	Small rearrangement	Fr.	Stop at 72	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 26 UKD02LON F0006 I0001 Female Heterozygous GREECE NA 8
p.Thr59Ile	c.176C>T	2	59	THAP dom.		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 41 NET01AMS F0003 I0001 Male Heterozygous NETHERLAND NA 10
p.Glu66ValfsX19	c.197_198delAG	2	66	L4-THAP dom.		Small rearrangement	Fr.	Stop at 84	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 49 GER02TUE F0008 I0001 Female Heterozygous GERMANY NA 12
p.Asn69_Asn69del	c.207_209delCAA	2	69	L4-THAP dom.		Small rearrangement	InF	In frame del	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 39 NET01AMS F0001 I0001 Male Heterozygous NETHERLAND NA 10 57 FRA02PAR F0442 I0020 Male Heterozygous FRANCE NA 15 62 NET01AMS F0001 I0002 Male Heterozygous NETHERLAND NA 10 63 NET01AMS F0001 I0003 Male Heterozygous NETHERLAND NA 10
p.Lys70Glu	c.208A>G	2	70	L4-THAP dom.		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 192 GRE01LAR F0001 I0001 Female Heterozygous GREECE NA 32
p.Leu72ThrfsX14	c.213dup	2	72	L4-THAP dom.		Small rearrangement	Fr.	Stop at 85	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 156 CHI02CHE F0001 I0001 Male Heterozygous CHINA NA 21
p.Leu72Arg	c.215T>G	2	72	L4-THAP dom.		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 55 FRA02PAR F0316 I0006 Female Heterozygous FRANCE NA 15
p.Asn75Ile	c.224A>T	2	75	L4-THAP dom.		Small rearrangement	Tv	A->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 50 CHI01PEK F0001 I0001 Male Heterozygous CHINA NA 13 64 CHI01PEK F0001 I0002 Female Heterozygous CHINA NA 13
p.Thr79LysfsX41	c.236delC	2	79	H4-THAP dom.	AVPTIF motif	Small rearrangement	Fr.	Stop at 119	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 27 UKD02LON F0007 I0001 Female Heterozygous U.K. NA 8
p.Ile80Val	c.238A>G	2	80	H4-THAP dom.	AVPTIF motif	Small rearrangement	Ts	A->G	5
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 170 USA02MEN F0009 I0001 Male Heterozygous U.S.A. NA 25 195 USA02MEN F0009 I0002 Male Heterozygous U.S.A. NA 25 228 POL02LOD F0002 I0001 Male Heterozygous POLAND NA 40 229 POL02LOD F0002 I0002 Female Heterozygous POLAND NA 40 230 POL02LOD F0002 I0003 Female Heterozygous POLAND NA 40
p.Phe81Leu	c.241T>C	2	81	H4-THAP dom.	AA interactions	Small rearrangement	Ts	T->C	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1 USA01NYO F0001 I0001 Female Heterozygous GERMANY NA 1 65 USA01NYO F0001 I0002 Male Heterozygous GERMANY NA 1 66 USA01NYO F0001 I0003 Male Heterozygous GERMANY NA 1 67 USA01NYO F0001 I0004 Female Heterozygous GERMANY NA 1
p.Cys83Arg	c.247T>C	2	83			Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 48 GER02TUE F0007 I0001 Female Heterozygous GERMANY NA 12
p.Lys89Arg	c.266A>G	2	89			Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8 USA01NYO F0012 I0001 Unknown Heterozygous U.S.A. NA 2
p.Lys89Lys	c.267G>A	2	89			Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 151 CHI01PEK F0005 I0002 Female Heterozygous CHINA NA 20 148 CHI01PEK F0005 I0001 Male Heterozygous CHINA NA 20
p.Gln97X	c.289C>T	3	97	Proline rich reg.		Small rearrangement	Ts	C->T	9
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 196 BRA01SAO F0002 I0001 Male Heterozygous BRAZIL NA 35 197 BRA01SAO F0002 I0002 Male Heterozygous BRAZIL NA 35 202 BRA01SAO F0005 I0001 Male Heterozygous BRAZIL NA 35 205 BRA01SAO F0007 I0001 Male Heterozygous BRAZIL NA 35 208 BRA01SAO F0008 I0001 Female Heterozygous BRAZIL NA 35 209 BRA01SAO F0009 I0001 Male Heterozygous BRAZIL NA 35 224 BRA02CUR F0001 I0001 Female Heterozygous BRAZIL NA 39 225 BRA02CUR F0001 I0002 Female Heterozygous BRAZIL NA 39 227 BRA02CUR F0003 I0001 Male Heterozygous BRAZIL NA 39
p.Asp113Asp	c.339T>C	3	113			Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 155 CHI01PEK F0007 I0001 Female Heterozygous CHINA NA 20
p.Ile116MetfsX4	c.348delT	3	116			Small rearrangement	Fr.	Stop at 119	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 210 BRA01SAO F0010 I0001 Female Heterozygous BRAZIL NA 35
p.Gln124X	c.370C>T	3	124			Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 44 GER02TUE F0003 I0001 Unknown Heterozygous GERMANY NA 12
p.Pro126ArgfsX2	c.377_378delCT	3	126			Small rearrangement	Fr.	Stop at 127	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15 FRA01MON F0002 I0001 Female Heterozygous FRANCE NA 4 68 FRA01MON F0002 I0002 Male Heterozygous FRANCE NA 4
p.Val131PhefsX3	c.388_389delTC	3	130			Small rearrangement	Fr.	Stop at 133	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12 GER01LUB F0001 I0001 Male Heterozygous GERMANY Reduced nuclear import 3 45 GER02TUE F0004 I0001 Female Heterozygous GERMANY Reduced nuclear import 12 189 JAP01TOK F0001 I0010 Male Heterozygous JAPAN Reduced nuclear import 31
p.Ser130CysfsX4	c.389_390delCA	3	130			Small rearrangement	Fr.	Stop at 133	9
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 188 JAP01TOK F0001 I0009 Female Heterozygous JAPAN NA 31 187 JAP01TOK F0001 I0008 Male Heterozygous JAPAN NA 31 186 JAP01TOK F0001 I0007 Female Heterozygous JAPAN NA 31 185 JAP01TOK F0001 I0006 Female Heterozygous JAPAN NA 31 184 JAP01TOK F0001 I0005 Female Heterozygous JAPAN NA 31 183 JAP01TOK F0001 I0004 Female Heterozygous JAPAN NA 31 182 JAP01TOK F0001 I0003 Female Heterozygous JAPAN NA 31 181 JAP01TOK F0001 I0002 Female Heterozygous JAPAN NA 31 180 JAP01TOK F0001 I0001 Male Heterozygous JAPAN NA 31
p.Phe132del	c.394_396delTTC	3	132			Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 173 USA01NYO F0015 I0001 Unknown Heterozygous U.S.A. NA 28
p.Phe132Ser	c.395T>C	3	132			Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 34 USA02MEN F0005 I0001 Female Heterozygous U.S.A. NA 7
p.Asn136Ser	c.407A>G	3	136		HCF-1 binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 36 UKD02LON F0008 I0001 Male Homozygous MAURITANIA NA 8
p.Asn136Lys	c.408C>G	3	136		HCF-1 binding	Small rearrangement	Tv	C->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 40 NET01AMS F0002 I0001 Female Heterozygous NETHERLAND NA 10 69 NET01AMS F0002 I0002 Female Heterozygous NETHERLAND NA 10
p.Tyr137Cys	c.410A>G	3	137		HCF-1 binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 43 GER02TUE F0002 I0001 Female Heterozygous GERMANY NA 12
p.Thr138MetfsX15	c.413delC	3	138			Small rearrangement	Fr.	Stop at 152	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 221 JAP01TOK F0002 I0001 Female Heterozygous JAPAN NA 38
p.Thr142Ala	c.424A>G	3	142	Coiled-Coil dom.		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 174 USA01NYO F0016 I0001 Unknown Heterozygous U.S.A. NA 28
p.Met143Val	c.427A>G	3	143	Coiled-Coil dom.		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 46 GER02TUE F0005 I0001 Female Heterozygous GERMANY NA 12
p.Arg146AspfsX9	c.436_443del	3	146	NLS		Small rearrangement	Fr.	Stop at 154	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 56 FRA02PAR F0370 I0028 Female Heterozygous FRANCE NA 15
p.Ile149Thr	c.446T>C	3	149	NLS		Small rearrangement	Ts	T->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 31 USA02MEN F0002 I0001 Male Heterozygous U.S.A. NA 7 70 USA02MEN F0002 I0002 Female Heterozygous U.S.A. NA 7
p.His150Pro	c.449A>C	3	150	NLS		Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 51 CHI01PEK F0002 I0001 Male Heterozygous CHINA NA 13
p.Gln154SerfsX27	c.460delC	3	154	NLS	THAP1 dimerization	Small rearrangement	Fr.	Stop at 180	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9 USA01NYO F0013 I0001 Unknown Heterozygous U.S.A. Reduced nuclear import 2
p.Lys158AsnfsX23	c.474delA	3	158	NLS	THAP1 dimerization	Small rearrangement	Fr.	Stop at 180	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13 GER01LUB F0002 I0001 Male Heterozygous GERMANY Reduced nuclear import 3 71 GER01LUB F0002 I0002 Female Heterozygous GERMANY Reduced nuclear import 3 72 GER01LUB F0002 I0003 Male Heterozygous GERMANY Reduced nuclear import 3
p.Leu159His	c.476T>A	3	159	NLS	THAP1 dimerization	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 171 CHI02CHE F0003 I0001 Female Heterozygous CHINA NA 26
p.Ala166Thr	c.496G>A	3	166	Coiled-Coil dom.	THAP1 dimerization	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 35 USA02MEN F0006 I0001 Female Heterozygous U.S.A. NA 7 191 SER01BEL F0005 I0001 Male Heterozygous SERBIA NA 23
p.Arg169Gln	c.506G>A	3	169	Coiled-Coil dom.		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 37 UKD02LON F0009 I0001 Female Heterozygous U.K. NA 8 226 BRA02CUR F0001 I0002 Female Heterozygous BRAZIL NA 39
p.Cys170Arg	c.508T>C	3	170	Coiled-Coil dom.		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 19 ITA01ROM F0001 I0001 Male Heterozygous GREECE NA 6
p.Arg172LysfsX7	c.514dup	3	172	Coiled-Coil dom.		Small rearrangement	Fr.	Stop at 178	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 14 FRA01MON F0001 I0001 Male Heterozygous FRANCE NA 4
p.Glu174Gly	c.521A>G	3	174	Coiled-Coil dom.		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 157 CHI02CHE F0002 I0001 Female Heterozygous CHINA NA 21
p.Leu177Pro	c.530T>C	3	177	Coiled-Coil dom.		Small rearrangement	Ts	T->C	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 211 AUS01BRI F0001 I0001 Female Heterozygous AUSTRALIA NA 36 212 AUS01BRI F0001 I0002 Female Heterozygous AUSTRALIA NA 36 213 AUS01BRI F0001 I0001 Male Heterozygous AUSTRALIA NA 36
p.Leu180Ser	c.539T>C	3	180	Coiled-Coil dom.		Small rearrangement	Ts	T->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 231 CHI01PEK F0008 I0001 Male Heterozygous CHINA NA 41 152 CHI01PEK F0006 I0001 Male Heterozygous CHINA NA 20
p.Gln187Lys	c.559C>A	3	187	Coiled-Coil dom.		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 33 USA02MEN F0004 I0001 Female Heterozygous CHINA NA 7
p.Asp191ThrfsX9	c.570delA	3	190	Coiled-Coil dom.		Small rearrangement	Fr.	Stop at 199	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 158 GER01LUB F0006 I0001 Female Heterozygous GERMANY NA 22
p.Asp192Asn	c.574G>A	3	192			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 47 GER02TUE F0006 I0001 Male Heterozygous GERMANY NA 12