The UMD-MEN1 mutations database
Gln to Stop mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Gln96X	c.286C>T	2	96	Sm, NM		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 26 04-SE02-M15H-955 Male Heterozygous CAUSAL W1013 7 27 04-SE02-R01N-001 Female Heterozygous CAUSAL W1013 7 28 04-SE02-Y15U-989 Female Heterozygous CAUSAL W1013 7 359 03-CR05-F18A-952 Female Heterozygous CAUSAL W106 9
p.Gln192X	c.574C>T	3	192	Ju,Sm,NMH,HD,NM		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 470 03-CU09-C08R-965 Male Heterozygous CAUSAL W233 13
p.Gln260X	c.778C>T	4	260	Sm,NM,NMH,FA,HD		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1682 02-MA20-D01L-984 Female Heterozygous CAUSAL 2
p.Gln261X	c.781C>T	4	261	Sm,NM,NMH,FA,HD		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 557 03-PA17-A25M-979 Male Heterozygous CAUSAL W178 9 558 03-PA17-S05R-976 Female Heterozygous CAUSAL W178 9 595 03-WA12-S25L-969 Female Heterozygous CAUSAL W33 0
p.Gln349X	c.1045C>T	7	349	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Ts	C->T	7
UMD_id Sample ID Gender Mutation status Variation class Family ID References 711 03-PE18-J05A-954 Male Heterozygous CAUSAL W246 3 749 03-AR18-O12I-971 Male Heterozygous CAUSAL W132 15 750 03-AR18-J05A-946 Male Heterozygous CAUSAL W132 15 771 03-EU04-F18A-943 Male Heterozygous CAUSAL W275 3 772 03-LE03-M01R-969 Female Heterozygous CAUSAL 3 773 03-PE18-A21D-984 Female Heterozygous CAUSAL W246 3 775 03-PE18-R15L-950 Male Heterozygous CAUSAL W246 3
p.Gln395X	c.1183C>T	8	395	Ju,Pem,NM,RP,FA,HD		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 140 04-MA07-A14N-972 Female Heterozygous CAUSAL W2069 16 141 04-MA07-E12S-948 Female Heterozygous CAUSAL W2069 16 142 04-MA07-J05R-973 Male Heterozygous CAUSAL W2069 16 143 04-TR21-J21L-981 Female Heterozygous CAUSAL 16
p.Gln398X	c.1192C>T	9	398	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 932 03-PU12-E04I-963 Male Heterozygous CAUSAL 12
p.Gln405X	c.1213C>T	9	405	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 149 04-AD01-A14O-981 Female Heterozygous CAUSAL 17 150 04-RO04-H05N-958 Male Heterozygous CAUSAL W2070 17 151 04-RO04-J15H-981 Male Heterozygous CAUSAL W2070 17
p.Gln453X	c.1357C>T	10	453	Pem,NM,CH		Small rearrangement	Ts	C->T	20
UMD_id Sample ID Gender Mutation status Variation class Family ID References 171 04-BO19-M01R-964 Female Heterozygous CAUSAL 0 959 03-RA09-M01R-976 Female Heterozygous CAUSAL W1111 6 979 03-DO19-R05G-973 Female Heterozygous CAUSAL W222 6 980 03-DO19-M01R-974 Female Heterozygous CAUSAL W237 6 981 03-DA03-D05L-935 Female Heterozygous CAUSAL W222 6 1038 03-ET09-J05A-951 Male Heterozygous CAUSAL W226 6 1186 03-OL09-C01R-002 Female Heterozygous CAUSAL W1111 13 1261 03-MO14-L21I-984 Male Heterozygous CAUSAL W237 6 1262 03-MO14-G05O-986 Male Heterozygous CAUSAL W237 6 1267 03-MO14-M01R-964 Female Heterozygous CAUSAL W237 6 1275 03-AB18-N05L-986 Male Heterozygous CAUSAL W222 6 1276 03-DO13-J05R-997 Male Heterozygous CAUSAL W222 6 1277 03-DO13-C08R-992 Male Heterozygous CAUSAL W222 6 1278 03-DO13-P01U-971 Male Heterozygous CAUSAL W222 6 1279 03-DO13-F05R-937 Male Heterozygous CAUSAL W222 6 1280 03-AB18-V09C-964 Male Heterozygous CAUSAL W222 6 1281 03-AB18-D15R-995 Female Heterozygous CAUSAL W222 6 1426 01-PE18-C01R-994 Male Heterozygous CAUSAL 13 1701 02-AN20-A14D-013 Female Heterozygous CAUSAL 13 1798 02-DO13-F05R-937 Male Heterozygous CAUSAL W222 6
p.Gln508X	c.1522C>T	10	508	Sm3,CH		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1647 02-DE22-F18A-957 Female Heterozygous CAUSAL W1143 5
p.Gln536X	c.1606C>T	10	536	Sm3,CH		Small rearrangement	Ts	C->T	10
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1810 02-GI07-P08I-980 Male Heterozygous CAUSAL W36 3 993 03-BU07-C08R-973 Female Heterozygous CAUSAL W263 3 994 03-PE07-J15S-943 Male Heterozygous CAUSAL W263 3 1074 03-JO21-Y01N-968 Male Heterozygous CAUSAL W36 3 1075 03-JO21-B18U-965 Male Heterozygous CAUSAL W36 3 1079 03-GI07-P08I-000 Male Heterozygous CAUSAL W36 3 1087 03-BI01-G21I-970 Male Heterozygous CAUSAL W36 3 1161 03-BI01-E04I-943 Female Heterozygous CAUSAL W36 3 1163 03-GI07-B05R-945 Male Heterozygous CAUSAL W36 3 1164 03-JO21-I19A-941 Female Heterozygous CAUSAL W36 3