The UMD-MEN1 mutations database
Nonsense mutations (287 records)

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Arg29X	c.85C>T	2	29	Ju, NM, RP		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 269 03-VU10-N01D-979 Female Heterozygous CAUSAL W213 15 305 03-SC08-M01R-955 Female Heterozygous CAUSAL W1070 15 412 03-LI13-S05N-XXX Male Heterozygous CAUSAL 15
p.Glu31X	c.91G>T	2	31	Ju, NM, RP		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 237 03-CH01-J21L-981 Female Heterozygous CAUSAL W1114 0 1634 02-CH01-J21L-981 Male Heterozygous CAUSAL W1114 0
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.Arg98X	c.292C>T	2	98	Sm, NM		Small rearrangement	Ts	C->T	32
UMD_id Sample ID Gender Mutation status Variation class Family ID References 243 03-PO18-R15M-973 Male Heterozygous CAUSAL W231 9 280 03-MI18-S05B-977 Male Heterozygous CAUSAL W124 9 282 03-JO21-N15L-994 Female Heterozygous CAUSAL W45 8 283 03-BO21-V01N-987 Female Heterozygous CAUSAL W45 8 294 03-PO21-G05N-944 Female Heterozygous CAUSAL W231 7 300 03-PO18-M01R-942 Female Heterozygous CAUSAL W231 9 303 03-MO14-M01R-953 Female Heterozygous CAUSAL W231 9 316 03-CH01-C01T-974 Female Heterozygous CAUSAL W68 9 328 03-MI18-C25R-975 Male Heterozygous CAUSAL W124 9 329 03-MI18-N09C-952 Female Heterozygous CAUSAL W124 9 338 03-MA18-S20E-969 Male Heterozygous CAUSAL W68 9 339 03-CH01-M01R-947 Female Heterozygous CAUSAL W68 9 342 03-MA18-D05N-949 Female Heterozygous CAUSAL W68 9 363 03-BO21-J21L-916 Male Heterozygous CAUSAL W45 7 364 03-BO21-W09L-965 Male Heterozygous CAUSAL W45 9 365 03-VO12-L25D-963 Female Heterozygous CAUSAL W45 3 366 03-JO21-V01L-968 Female Heterozygous CAUSAL W45 9 367 03-BO21-J15E-956 Male Heterozygous CAUSAL W45 9 370 03-BO21-A12A-956 Male Heterozygous CAUSAL W45 9 385 03-MA18-I18E-951 Female Heterozygous CAUSAL 9 391 03-BO21-S01M-990 Male Heterozygous CAUSAL W45 9 396 03-MA18-R01P-002 Male Heterozygous CAUSAL W68 9 398 03-RO25-C08L-009 Female Heterozygous CAUSAL W45 9 411 03-BO21-A12E-000 Female Heterozygous CAUSAL W45 14 419 03-BO14-C12A-995 Female Heterozygous CAUSAL W224 14 420 03-BO14-E13M-997 Female Heterozygous CAUSAL W224 14 426 03-IG14-D01V-988 Male Heterozygous CAUSAL 9 1368 01-GO13-A24E-993 Male Heterozygous CAUSAL W199 14 1369 01-FI05-S01N-972 Female Heterozygous CAUSAL W199 4 1370 01-NE22-C12A-952 Female Heterozygous CAUSAL W199 14 1708 02-PE18-A18T-970 Male Heterozygous CAUSAL 9 1813 02-HO21-M09C-948 Female Heterozygous CAUSAL 14
p.Arg108X	c.322C>T	2	108	Sm, NM		Small rearrangement	Ts	C->T	10
UMD_id Sample ID Gender Mutation status Variation class Family ID References 29 04-MA08-J05A-948 Male Heterozygous CAUSAL W1079 8 30 04-SI13-C08R-972 Female Heterozygous CAUSAL W1079 8 286 03-DE12-O03E-003 Female Heterozygous CAUSAL W28 8 287 03-DE12-B18I-000 Male Heterozygous CAUSAL W28 8 315 03-RO20-A21R-980 Female Heterozygous CAUSAL W28 3 350 03-DE12-K01R-982 Male Heterozygous CAUSAL W28 7 351 03-DE12-F18A-978 Male Heterozygous CAUSAL W28 7 360 03-DE12-S05R-953 Male Heterozygous CAUSAL W28 7 362 03-PO09-J15S-955 Female Heterozygous CAUSAL W28 7 375 03-DE12-J05A-929 Female Heterozygous CAUSAL W28 9
p.Trp126X	c.378G>A	2	126	Sm, NM		Small rearrangement	Ts	G->A	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1358 01-DE19-P01T-953 Male Heterozygous CAUSAL W153 31 1359 03-DE19-S15P-989 Female Heterozygous CAUSAL W153 31 1360 03-DE19-C01R-991 Female Heterozygous CAUSAL W153 31 1457 01-VA14-C05D-979 Male Heterozygous CAUSAL 15
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.Ser226X	c.677C>G	4	226	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Tv	C->G	6
UMD_id Sample ID Gender Mutation status Variation class Family ID References 585 03-RO21-R05J-937 Female Heterozygous CAUSAL W158 14 1439 01-PO18-S20E-974 Female Heterozygous CAUSAL W158 14 1440 01-PO18-P01T-950 Male Heterozygous CAUSAL W158 14 1441 01-PO18-Y15L-930 Female Heterozygous CAUSAL W158 14 1442 01-PO18-B05A-947 Female Heterozygous CAUSAL W158 14 1443 01-PO18-M01R-972 Female Heterozygous CAUSAL W158 14
p.Ser253X	c.758C>A	4	253	Sm,NM,NMH,FA,HD		Small rearrangement	Tv	C->A	17
UMD_id Sample ID Gender Mutation status Variation class Family ID References 559 03-FA09-J21L-984 Male Heterozygous CAUSAL W92 9 564 03-FI12-V05R-965 Female Heterozygous CAUSAL W1003 14 576 03-FA09-I19A-966 Female Heterozygous CAUSAL W92 3 577 03-DE12-T08I-992 Male Heterozygous CAUSAL W92 3 581 03-BA12-S25L-984 Female Heterozygous CAUSAL W92 3 582 03-BU18-A14N-945 Female Heterozygous CAUSAL W92 3 583 03-BA12-D09D-962 Male Heterozygous CAUSAL W92 9 584 03-BA12-A04R-984 Male Heterozygous CAUSAL W92 3 593 03-FA09-J05A-955 Male Heterozygous CAUSAL W92 14 594 03-BO21-C08R-942 Female Heterozygous CAUSAL W92 14 596 03-DE12-M01R-964 Female Heterozygous CAUSAL W92 14 597 03-WA20-D01N-951 Female Heterozygous CAUSAL W92 14 598 03-FA09-D05N-954 Male Heterozygous CAUSAL W92 14 599 03-BA12-G09N-940 Female Heterozygous CAUSAL W92 14 600 03-FA09-S21Z-927 Female Heterozygous CAUSAL W92 14 607 03-FA09-C12E-981 Male Heterozygous CAUSAL W92 14 611 03-TO21-L09N-009 Female Heterozygous CAUSAL W92 14
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.Trp265X	c.794G>A	5	265	Sm,NM,NMH,FA,HD		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1323 01-BU09-S20E-975 Female Heterozygous CAUSAL W1066 0 1324 01-BU18-D15M-950 Female Heterozygous CAUSAL W1066 0
p.Trp265X	c.795G>A	5	265	Sm,NM,NMH,FA,HD		Small rearrangement	Ts	G->A	6
UMD_id Sample ID Gender Mutation status Variation class Family ID References 666 03-LA16-S20E-968 Male Heterozygous CAUSAL W1015 12 667 03-LA16-J01M-939 Male Heterozygous CAUSAL W1015 12 670 03-BO21-M01R-956 Female Heterozygous CAUSAL W79 12 671 03-GU09-D15M-961 Male Heterozygous CAUSAL W79 24 672 03-GU09-P01U-932 Male Heterozygous CAUSAL W79 12 681 03-LA16-L01U-001 Female Heterozygous CAUSAL W1015 12
p.Tyr313X	c.939T>G	7	313	NF,NM,RP,FA,HD		Small rearrangement	Tv	T->G	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 758 03-ST09-M25R-958 Female Heterozygous CAUSAL W115 14 774 03-CH01-L01U-985 Female Heterozygous CAUSAL W115 14
p.Tyr319X	c.957C>A	7	319	NF,NM,RP,FA,HD		Small rearrangement	Tv	C->A	7
UMD_id Sample ID Gender Mutation status Variation class Family ID References 121 04-AR09-C05C-969 Female Heterozygous CAUSAL W1108 0 763 03-AU04-G05O-942 Male Heterozygous CAUSAL W2005 0 764 03-DE22-L09L-001 Female Heterozygous CAUSAL W2017 0 767 03-DE22-A13A-974 Female Heterozygous CAUSAL W2017 0 776 03-AU04-P09E-938 Male Heterozygous CAUSAL W2005 0 1573 02-FO21-A18N-966 Female Heterozygous CAUSAL W2014 0 1574 02-FO21-G09L-930 Male Heterozygous CAUSAL W2014 0
p.Tyr321X	c.963C>A	7	321	NF,NM,RP,FA,HD		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 760 03-SO13-M09C-958 Female Heterozygous CAUSAL 0
p.Tyr323X	c.969C>A	7	323	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Tv	C->A	7
UMD_id Sample ID Gender Mutation status Variation class Family ID References 723 03-HA13-M01R-939 Female Heterozygous CAUSAL W145 17 727 03-VA18-L01U-964 Female Heterozygous CAUSAL W1017 17 761 03-LE09-M01R-992 Female Heterozygous CAUSAL 17 765 03-ME22-F18A-982 Female Heterozygous CAUSAL 17 1534 02-PE18-D15L-969 Female Heterozygous CAUSAL W2020 17 1535 02-PE18-J01C-948 Female Heterozygous CAUSAL W2020 17 1536 02-GE19-E22E-957 Female Heterozygous CAUSAL W2020 17
p.Tyr327X	c.981C>A	7	327	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Tv	C->A	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 123 04-PO16-L21C-972 Female Heterozygous CAUSAL W1016 0 124 04-PO16-S01V-940 Male Heterozygous CAUSAL W1016 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.Glu356X	c.1066G>T	8	356	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Tv	G->T	5
UMD_id Sample ID Gender Mutation status Variation class Family ID References 790 03-LE16-Y15N-988 Female Heterozygous CAUSAL W1078 0 810 03-LE16-M09C-959 Male Heterozygous CAUSAL W1078 0 816 03-LE16-A12A-961 Male Heterozygous CAUSAL W1078 0 1549 02-LE16-R01Y-998 Male Heterozygous CAUSAL W1078 0 1548 02-LE16-A12A-994 Male Heterozygous CAUSAL W1078 0
p.Glu363X	c.1087G>T	8	363	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Tv	G->T	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1570 02-AB04-L01T-944 Male Heterozygous CAUSAL W2022 0 1571 02-SA18-P01U-972 Female Heterozygous CAUSAL W2022 0 1572 02-AB04-PA11-995 Female Heterozygous CAUSAL W2022 0
p.Glu392X	c.1174G>T	8	392	Ju,Pem,NM,RP,FA,HD		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 805 03-MA18-A20E-008 Female Heterozygous CAUSAL W2019 28 815 03-MA18-J05R-979 Male Heterozygous CAUSAL W2019 28
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.Arg415X	c.1243C>T	9	415	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Ts	C->T	33
UMD_id Sample ID Gender Mutation status Variation class Family ID References 152 04-JO25-F12O-955 Female Heterozygous CAUSAL W2080 8 153 04-JO25-K05V-992 Male Heterozygous CAUSAL W2080 8 154 04-MU12-M01R-961 Female Heterozygous CAUSAL W2079 8 155 04-MU12-E22A-994 Female Heterozygous CAUSAL W2079 8 156 04-MU12-M01T-990 Male Heterozygous CAUSAL W2079 8 157 04-OB09-R15S-960 Female Heterozygous CAUSAL 8 826 03-BI07-S01N-980 Female Heterozygous CAUSAL 5 850 03-MI19-D05B-985 Female Heterozygous CAUSAL W9 3 852 03-SI03-C01R-963 Female Heterozygous CAUSAL W9 3 853 03-SC08-V09N-929 Male Heterozygous CAUSAL W9 3 854 03-SC08-B18U-938 Male Heterozygous CAUSAL W9 3 870 03-BE14-A04R-970 Female Heterozygous CAUSAL W9 8 879 03-SC08-L09N-971 Female Heterozygous CAUSAL W9 12 880 03-GR05-C15S-952 Male Heterozygous CAUSAL W9 12 881 03-GR05-V09N-949 Male Heterozygous CAUSAL W9 12 882 03-MI19-M01R-962 Female Heterozygous CAUSAL W9 12 884 03-SC08-D01N-972 Male Heterozygous CAUSAL W9 8 885 03-SC08-J15S-965 Female Heterozygous CAUSAL W9 8 886 03-SC08-S05R-969 Male Heterozygous CAUSAL W9 8 887 03-GR05-F01N-981 Female Heterozygous CAUSAL W9 8 888 03-GR05-S20E-981 Female Heterozygous CAUSAL W9 8 889 03-GR05-L09O-979 Male Heterozygous CAUSAL W9 8 906 03-SA14-C12A-000 Female Heterozygous CAUSAL W9 8 907 03-SA14-C01S-000 Female Heterozygous CAUSAL W9 8 1385 01-GR01-G21I-995 Male Heterozygous CAUSAL W1117 14 1386 01-GR01-P01S-959 Male Heterozygous CAUSAL W1117 14 1387 01-GR01-A18N-997 Male Heterozygous CAUSAL W1117 9 1388 01-GR01-G01S-934 Male Heterozygous CAUSAL W1117 9 1412 01-MA19-P01T-952 Male Heterozygous CAUSAL W136 27 1413 01-MA19-F01N-976 Female Heterozygous CAUSAL W136 27 1414 01-MA19-J15H-979 Male Heterozygous CAUSAL W136 27 1415 01-MA19-D05L-981 Female Heterozygous CAUSAL W136 27 1702 02-JO25-I14G-989 Female Heterozygous CAUSAL W2080 27
p.Trp436X	c.1308G>A	9	436	Pem,NM,RP,HD,CH		Small rearrangement	Ts	G->A	12
UMD_id Sample ID Gender Mutation status Variation class Family ID References 160 03-GE18-V09R-985 Female Heterozygous CAUSAL W134 14 161 04-TI05-L01U-988 Female Heterozygous CAUSAL w2075 14 825 03-CA18-M09C-956 Male Heterozygous CAUSAL W253 23 839 03-TA22-F18E-970 Male Heterozygous CAUSAL W76 23 840 03-TA22-O12I-970 Male Heterozygous CAUSAL W76 23 901 03-CA18-H21G-934 Female Heterozygous CAUSAL W253 15 910 03-SO21-A14N-967 Female Heterozygous CAUSAL W2075 14 911 03-SO21-F12O-993 Female Heterozygous CAUSAL W2075 14 921 03-CA12-C25R-987 Male Heterozygous CAUSAL W253 14 1121 03-GE18-S25L-974 Female Heterozygous CAUSAL W134 14 1122 03-GE18-M01R-954 Female Heterozygous CAUSAL W134 14 1123 03-GE18-A12I-980 Female Heterozygous CAUSAL W134 14
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.Arg460X	c.1378C>T	10	460	Pem,NM,CH		Small rearrangement	Ts	C->T	55
UMD_id Sample ID Gender Mutation status Variation class Family ID References 361 03-LA03-P08L-947 Male Heterozygous CAUSAL W11 6 960 03-CH01-P08L-965 Male Heterozygous CAUSAL W128 14 963 03-SU02-A14N-944 Female Heterozygous CAUSAL W258 14 969 03-MA21-V09N-981 Male Heterozygous CAUSAL W255 14 971 03-LA16-M01T-984 Male Heterozygous CAUSAL W78 0 972 03-LA16-M21R-958 Female Heterozygous CAUSAL W78 14 982 03-CH01-V01L-964 Female Heterozygous CAUSAL W128 21 988 03-BO04-M01R-937 Female Heterozygous CAUSAL W269 21 995 03-GR05-L01U-996 Female Heterozygous CAUSAL W244 6 996 03-GR05-E12O-998 Female Heterozygous CAUSAL W244 6 997 03-RO20-A14N-982 Female Heterozygous CAUSAL W269 6 998 03-BO04-G21Y-969 Male Heterozygous CAUSAL W269 6 1024 03-YG05-B05R-928 Male Heterozygous CAUSAL W96 3 1027 03-VI07-J21L-997 Male Heterozygous CAUSAL W26 14 1036 03-HE09-S25L-955 Female Heterozygous CAUSAL W169 15 1037 03-NO02-L21C-927 Female Heterozygous CAUSAL W169 15 1042 03-NO02-D15M-960 Male Heterozygous CAUSAL W169 15 1049 03-PA14-J05A-958 Male Heterozygous CAUSAL W192 21 1052 03-PA14-F01B-957 Male Heterozygous CAUSAL W192 21 1057 03-FU19-F18E-975 Male Heterozygous CAUSAL W244 15 1066 03-PO09-G18E-981 Male Heterozygous CAUSAL W96 21 1071 03-VA19-V01L-987 Female Heterozygous CAUSAL W96 9 1078 03-VI07-L01U-991 Male Heterozygous CAUSAL W26 14 1088 03-PO09-A14T-985 Male Heterozygous CAUSAL W96 15 1098 03-UR02-M01R-943 Female Heterozygous CAUSAL W88 15 1110 03-VI07-J05A-944 Male Heterozygous CAUSAL W26 14 1111 03-VI07-O12I-962 Male Heterozygous CAUSAL W26 14 1112 03-GO09-C08R-984 Female Heterozygous CAUSAL W26 14 1118 03-VA19-A18M-962 Female Heterozygous CAUSAL W96 21 1129 03-FU19-M09C-949 Male Heterozygous CAUSAL W244 3 1131 03-LE20-D05N-932 Female Heterozygous CAUSAL W96 3 1132 03-GR05-L01U-976 Female Heterozygous CAUSAL W244 3 1136 03-GO09-I19A-957 Female Heterozygous CAUSAL W26 14 1140 03-AM05-L09L-942 Female Heterozygous CAUSAL W26 14 1159 03-GO21-D01N-946 Male Heterozygous CAUSAL W78 15 1167 03-DE19-P01U-938 Female Heterozygous CAUSAL W243 27 1170 03-PO09-M01R-952 Female Heterozygous CAUSAL W96 27 1200 03-YG05-Y15H-003 Male Heterozygous CAUSAL W96 21 1205 03-LE07-J05A-956 Male Heterozygous CAUSAL W2038 14 1207 03-LE07-D09D-972 Male Heterozygous CAUSAL W2038 14 1209 03-LE07-N05L-966 Female Heterozygous CAUSAL W2038 14 1233 03-BR09-N09C-979 Male Heterozygous CAUSAL 21 1283 03-BA18-V09R-972 Female Heterozygous CAUSAL 21 1384 01-GI18-J01C-939 Female Heterozygous CAUSAL W1095 14 1449 01-RO20-M01X-009 Male Heterozygous CAUSAL W269 14 1450 01-RO20-Y01N-978 Male Heterozygous CAUSAL W269 14 1451 01-RO20-A14N-947 Female Heterozygous CAUSAL W269 14 1531 02-LE03-B18U-961 Male Heterozygous CAUSAL 15 1537 02-FO18-P08I-961 Male Heterozygous CAUSAL W202 3 1538 02-FO18-S15L-966 Female Heterozygous CAUSAL W202 3 1539 02-CI20-N01I-997 Female Heterozygous CAUSAL W202 3 1542 02-DE18-M01R-948 Female Heterozygous CAUSAL W202 3 1543 02-CI20-S15P-973 Female Heterozygous CAUSAL W202 3 1618 02-AM05-L09L-942 Female Heterozygous CAUSAL W26 21 1665 02-HE03-J10R-990 Male Heterozygous CAUSAL 21
p.Trp471X	c.1413G>A	10	471	Pem,NM,CH		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1213 03-RO21-L01U-965 Female Heterozygous CAUSAL 32
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.Arg527X	c.1579C>T	10	527	Sm3,CH		Small rearrangement	Ts	C->T	16
UMD_id Sample ID Gender Mutation status Variation class Family ID References 990 03-VE14S05B-975 Male Heterozygous CAUSAL W4 6 991 03-VE14-Y22E-947 Female Heterozygous CAUSAL W4 6 1053 03-PE18-C08R-949 Female Heterozygous CAUSAL W4 25 1058 03-GR15-J05A-963 Male Heterozygous CAUSAL 696 0 1072 03-ST15-J15N-985 Male Heterozygous CAUSAL W25 25 1113 03-GU02-B18U-957 Male Heterozygous CAUSAL W4 25 1117 03-EU26-S25L-956 Female Heterozygous CAUSAL W25 25 1128 03-FR05-P01S-959 Male Heterozygous CAUSAL W4 21 1152 03-BE18-M01R-923 Female Heterozygous CAUSAL W4 25 1166 03-GU02-C08R-955 Male Heterozygous CAUSAL W4 25 1169 03-ST15-D05N-952 Male Heterozygous CAUSAL W25 25 1175 03-ST15-L15U-928 Male Heterozygous CAUSAL W25 25 1189 03-GU02-G09L-958 Male Heterozygous CAUSAL W4 21 1254 03-GU02-S09M-949 Female Heterozygous CAUSAL W4 25 1258 03-KO08-A14G-XXX Female Heterozygous CAUSAL 27 1704 02-ST15-L15U-954 Male Heterozygous CAUSAL W25 21
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 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 1810 02-GI07-P08I-980 Male Heterozygous CAUSAL W36 3
p.Ser543X	c.1628C>G	10	543	Sm3,CH		Small rearrangement	Tv	C->G	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1893 04-EM01-F12A-988 Female Heterozygous CAUSAL 33 1253 03-DE06-C01R-974 Female Heterozygous CAUSAL W251 33 1265 03-SA12-B05R-948 Male Heterozygous CAUSAL 33
p.Lys559X	c.1675A>T	10	559	Sm,ASK,CH		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1211 03-CI01-L21C-961 Male Heterozygous CAUSAL 0