The UMD-MEN1 mutations database
Small insertions (251 records)

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Val20GlyfsX97	c.58dup	2	20	Ju, NM, RP		Small rearrangement	Fr.	Stop at 116	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 346 03-GA12-N01T-964 Female Heterozygous CAUSAL W262 0 407 03-GA12-J15N-000 Male Heterozygous CAUSAL W262 0 408 03-GA12-L05O-992 Male Heterozygous CAUSAL W262 0
p.Asp70ProfsX51	c.191_195dup	2	66	Sm, NM		Small rearrangement	Fr.	Stop at 120	11
UMD_id Sample ID Gender Mutation status Variation class Family ID References 260 03-SI13-L21C--981 Male Heterozygous CAUSAL W248 15 265 03-SI22-N01D-956 Female Heterozygous CAUSAL W220 7 266 03-BE12-E12I-948 Female Heterozygous CAUSAL W220 15 271 03-BE12-F18A-977 Male Heterozygous CAUSAL W220 15 268 03-BE12-C01R-973 Female Heterozygous CAUSAL W220 15 369 03-SO21-J15S-947 Male Heterozygous CAUSAL W39 15 372 03-SO21-F18A-973 Male Heterozygous CAUSAL W39 15 386 03-GI18-M01R-994 Female Heterozygous CAUSAL W2004 15 413 03-PE25-M01R-938 Female Heterozygous CAUSAL 15 421 03-BO14-E12I-948 Female Heterozygous CAUSAL W220 0 428 03-GI18-C05C-962 Female Heterozygous CAUSAL W2004 15
p.Pro65_Ser66insSerPro	c.196_201dup	2	66	Sm, NM		Small rearrangement	Fr.	In frame ins	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 254 03-MA12-Y01N-973 Male Heterozygous LIKELY CAUSAL W256 0 255 03-MA12-J05A-946 Male Heterozygous LIKELY CAUSAL W256 0 378 03-MA12-S23A-007 Female Heterozygous LIKELY CAUSAL W256 0
p.Pro69ArgfsX49	c.202_205dup	2	69	Sm, NM		Small rearrangement	Fr.	Stop at 117	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1515 02-AR13-D01N-943 Female Heterozygous CAUSAL 0
p.Asp70ProfsX51	c.202_206dup	2	69	Sm, NM		Small rearrangement	Fr.	Stop at 120	7
UMD_id Sample ID Gender Mutation status Variation class Family ID References 15 04-MI12-S05T-970 Female Heterozygous CAUSAL W2076 7 19 04-MI12-M15R-992 Female Heterozygous CAUSAL W2076 7 230 03-JO12-O12I-966 Male Heterozygous CAUSAL W1144 7 281 03-PO20-V01N-984 Female Heterozygous CAUSAL W110 7 318 03-PO20-C05C-989 Female Heterozygous CAUSAL W110 7 322 03-PO20-E18I-960 Male Heterozygous CAUSAL W110 5 394 03-JO12-E19T-993 Female Heterozygous CAUSAL W1144 0
p.Asp70GlyfsX47	c.208dup	2	70	Sm, NM		Small rearrangement	Fr.	Stop at 116	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 247 03-GR25-J21L-986 Female Heterozygous CAUSAL W261 0 264 03-GR25-L01R-991 Female Heterozygous CAUSAL W261 0 301 03-KL05-J01C-939 Female Heterozygous CAUSAL W261 0 409 03-KL05-C01T-960 Female Heterozygous CAUSAL W261 0
p.Asp70GlyfsX48	c.208insGGTG	2	70	Sm, NM		Small rearrangement	Fr.	Stop at 117	5
UMD_id Sample ID Gender Mutation status Variation class Family ID References 232 03-AS09-V05R-971 Female Heterozygous CAUSAL W238 15 233 03-GE25-C08R-975 Male Heterozygous CAUSAL W238 15 234 03-RE09-V09N-979 Male Heterozygous CAUSAL W238 15 235 03-BA18-S20E-972 Female Heterozygous CAUSAL W238 15 236 03-RE09-S21Z-950 Female Heterozygous CAUSAL W238 15
p.Gly73LeufsX47	c.214_215dup	2	72	Sm, NM		Small rearrangement	Fr.	Stop at 119	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 21 04-VA18-S01R-003 Female Heterozygous CAUSAL W212 0 20 04-VA18-J05A-957 Male Heterozygous CAUSAL W212 0 270 03-VA18-J15S-954 Female Heterozygous CAUSAL W212 0
p.Ser84CysfsX36	c.249_250dup	2	83	Sm, NM		Small rearrangement	Fr.	Stop at 119	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 288 03-SI12-H05R-957 Female Heterozygous CAUSAL W18 7 289 03-MA20-M01N-945 Male Heterozygous CAUSAL W18 7 310 03-SI12-O19C-979 Male Heterozygous CAUSAL W18 0 311 03-MA20-S01N-981 Female Heterozygous CAUSAL W18 0
p.Ile85TyrfsX32	c.252dup	2	84	Sm, NM		Small rearrangement	Fr.	Stop at 116	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1403 01-LA14-B05R-957 Male Heterozygous CAUSAL W1098 0
p.Ser84delinsSerIle	c.252_254dup	2	84	Sm, NM		Small rearrangement	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1954 04-BA18-M01R-975 Female UV 0
p.Tyr106ProfsX15	c.310_314dup	2	104	Sm, NM		Small rearrangement	Fr.	Stop at 120	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 377 03-LE02-A14N-949 Female Heterozygous CAUSAL W149 0
p.Gly111delinsGly	c.331_332dup	2	111	Sm, NM		Small rearrangement	Fr.	Ins	6
UMD_id Sample ID Gender Mutation status Variation class Family ID References 32 04-MU19-S05R-947 Male Heterozygous CAUSAL W160 3 33 04-MU19-J05A-942 Male Heterozygous CAUSAL W160 3 272 03-BE18-C08A-972 Female Heterozygous CAUSAL W160 3 273 03-BE18-C08R-001 Female Heterozygous CAUSAL W160 3 274 03-BE18-A14T-997 Male Heterozygous CAUSAL W160 3 304 03-MU19-M01G-972 Female Heterozygous CAUSAL W160 0
p.Val112CysfsX5	c.332dup	2	111	Sm, NM		Small rearrangement	Fr.	Stop at 116	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 306 03-MU07-E12I-951 Male Heterozygous CAUSAL W1037 0 345 03-RA22-Y22E-948 Male Heterozygous CAUSAL W42 0
p.Ser130ArgfsX50	c.389dup	2	130	Sm, NM		Small rearrangement	Fr.	Stop at 179	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 376 03-MA09-C12A-951 Male Heterozygous CAUSAL W139 0 425 03-MA09-A07N-981 Female Heterozygous CAUSAL W139 0
p.Ala138GlyfsX42	c.412dup	2	138	Sm, NM		Small rearrangement	Fr.	Stop at 179	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1425 01-PA18-N09C-984 Male Heterozygous CAUSAL 0
p.Glu179X	c.534dup	3	178	Ju,Sm,NMH,HD,NM		Small rearrangement	Fr.	Stop at 179	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 459 03-DI18-S01N-961 Female Heterozygous CAUSAL W203 0 1394 01-JA19-N09C-943 Female Heterozygous CAUSAL W203 0
p.Lys201ThrfsX24	c.600_601dup	3	200	Ju,Sm,NMH,HD,NM		Small rearrangement	Fr.	Stop at 224	15
UMD_id Sample ID Gender Mutation status Variation class Family ID References 442 03-DU03-M01R-960 Female Heterozygous CAUSAL W83 9 443 03-JO19-I19A-958 Female Heterozygous CAUSAL W83 9 453 03-BA19-K05N-993 Male Heterozygous CAUSAL W83 9 454 03-BA19-K05L-991 Female Heterozygous CAUSAL W83 9 455 03-BA19-V05R-963 Female Heterozygous CAUSAL W83 9 464 03-NI12-L21D-970 Male Heterozygous CAUSAL W95 0 465 03-NI12-P09E-944 Male Heterozygous CAUSAL W95 0 466 03-GR05-F01B-982 Male Heterozygous CAUSAL W83 9 469 03-BR01-J05A-947 Male Heterozygous CAUSAL W83 9 472 03-BR01-K01R-977 Female Heterozygous CAUSAL W83 9 479 03-DU03-A14D-938 Female Heterozygous CAUSAL W83 9 515 03-DE19-F18A-971 Male Heterozygous CAUSAL W95 9 516 03-SU02-A14G-988 Female Heterozygous CAUSAL W83 9 519 03-SU02-C08R-966 Female Heterozygous CAUSAL W83 9 521 03-GR05-G05O-940 Male Heterozygous CAUSAL W83 9
p.Ile247HisfsX2	c.737dup	4	246	Sm,NM,NMH,FA,HD		Small rearrangement	Fr.	Stop at 248	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 88 04-DE22-S01N-985 Female Heterozygous CAUSAL W1089 0
p.Leu259AlafsX11	c.773dup	4	258	Sm,NM,NMH,FA,HD		Small rearrangement	Fr.	Stop at 269	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 569 03-GA21-N01T-979 Female Heterozygous CAUSAL W185 0 570 03-JU14-J01C-939 Male Heterozygous CAUSAL W185 0 615 03-LA12-M01R-959 Female Heterozygous CAUSAL 0
p.His272ProfsX45	c.814dup	5	272	Sm,NM,NMH,FA,HD		Small rearrangement	Fr.	Stop at 316	13
UMD_id Sample ID Gender Mutation status Variation class Family ID References 665 03-LU18-M01R-996 Female Heterozygous CAUSAL W59 3 668 03-DU02-D15R-001 Male Heterozygous CAUSAL W59 3 669 03-DU02-F12O-994 Female Heterozygous CAUSAL W59 3 673 03-DU02-F18A-964 Male Heterozygous CAUSAL W59 3 674 03-M012-C25R-978 Male Heterozygous CAUSAL W59 9 675 03-LU18-S15P-970 Female Heterozygous CAUSAL W59 9 676 03-MO12-M01R-956 Female Heterozygous CAUSAL W59 9 677 03-HA13-M09C-972 Male Heterozygous CAUSAL W59 9 678 03-DU02-E20I-969 Male Heterozygous CAUSAL W59 9 679 03-ME18-M01R-947 Female Heterozygous CAUSAL W59 9 682 03-DU02-M01X-001 Male Heterozygous CAUSAL W59 3 1390 01-HA13-M09C-945 Male Heterozygous CAUSAL W59 9 1391 01-HA13-M01R-944 Female Heterozygous CAUSAL W59 9
p.Asp315GlufsX2	c.944dup	7	315	NF,NM,RP,FA,HD		Small rearrangement	Fr.	Stop at 316	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 744 03-CO18-M01R-949 Female Heterozygous CAUSAL W1045 9
p.Thr344delinsThrAlaThr	c.1032_1037dup	7	344	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Fr.	In frame ins	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1923 04-VA14-E13-965 Female LIKELY CAUSAL 0 1880 04-VA14-E13I-965 Female Heterozygous LIKELY CAUSAL 0
p.Ile360delinsIleThrLysAsnSer	c.1080ins12	8	360	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 137 04-ME18-N09C-975 Male Heterozygous LIKELY CAUSAL 0
p.Glu424GlyfsX25	c.1270dup	9	424	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Fr.	Stop at 448	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1454 01-SG15-M01R-975 Female Heterozygous CAUSAL W142 9 1455 01-SG15-P01N-974 Male Heterozygous CAUSAL W142 9
p.Ser443ValfsX6	c.1325dup	9	442	Pem,NM,RP,HD,CH		Small rearrangement	Fr.	Stop at 448	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 905 03-BE14-S01M-978 Female Heterozygous CAUSAL 0
p.Gln450ThrfsX81	c.1346dup	9	449	Pem,NM,HD,CH		Small rearrangement	Fr.	Stop at 530	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 909 03-BE12-C08R-973 Female Heterozygous CAUSAL 0
p.Glu461ProfsX99	c.1381insCC	10	461	Pem,NM,CH		Small rearrangement	Fr.	Stop at 559	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 973 03-LA07-P01S-960 Female Heterozygous CAUSAL W98 3 1148 03-DE12-J05A-940 Male Heterozygous CAUSAL W98 3
p.Glu461delinsGluAlaGluGlu	c.1382_1390dup	10	461	Pem,NM,CH		Small rearrangement	Fr.	In frame ins	7
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1039 03-JU16-M15N-952 Female Heterozygous CAUSAL W12 0 1115 03-MA26-S15F-984 Male Heterozygous CAUSAL W12 0 1160 03-MA26-M09C-955 Female Heterozygous CAUSAL W12 0 1191 03-MA26-A13A-978 Female Heterozygous CAUSAL W12 0 1197 03-LI18-C08R-976 Female Heterozygous CAUSAL W12 0 1225 03-RO19-B05R-954 Male Heterozygous CAUSAL W12 0 1231 03-RO19-L01U-947 Male Heterozygous CAUSAL W12 0
p.Ala467ArgfsX98	c.1382_1398dup	10	461	Pem,NM,CH		Small rearrangement	Fr.	Stop at 564	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 180 04-BE20-C05L-976 Female Heterozygous CAUSAL W104 0 181 04-BE20-J05A-950 Male Heterozygous CAUSAL W104 0 1103 03-BE20-J05A-948 Male Heterozygous CAUSAL W104 0 1187 03-BE20-J05A-950 Male Heterozygous CAUSAL W104 31
p.Glu473ArgfsX58	c.1415dup	10	472	Pem,NM,CH		Small rearrangement	Fr.	Stop at 530	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 182 04-SP21-R15B-994 Male Heterozygous CAUSAL W2084 0 183 04-ZA16-L01D-974 Female Heterozygous CAUSAL W2084 0 184 04-ZA16-H01N-001 Female Heterozygous CAUSAL W2084 0
p.Pro494AlafsX37	c.1478dup	10	493	Sm3,CH		Small rearrangement	Fr.	Stop at 530	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1820 02-LO21-A12A-967 Male Heterozygous CAUSAL W2053 0 1821 02-LO21-D15L-946 Female Heterozygous CAUSAL W2053 0 1822 02-LO21-F18A-966 Female Heterozygous CAUSAL W2053 0
p.Lys496GlnfsX35	c.1485dup	10	496	Sm3,CH		Small rearrangement	Fr.	Stop at 530	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1107 03-ME25-P01T-966 Female Heterozygous CAUSAL W166 3 1151 03-ME25-A18N-963 Male Heterozygous CAUSAL W166 9 1257 03-CE02-J05S-979 Female Heterozygous CAUSAL W166 3
p.Leu500ThrfsX31	c.1497dup	10	499	Sm3,CH		Small rearrangement	Fr.	Stop at 530	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1784 02-BU09-T01M-992 Female Heterozygous CAUSAL 0
p.Leu504ProfsX27	c.1505dup	10	502	Sm3,CH		Small rearrangement	Fr.	Stop at 530	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1246 03-DA11-R01F-943 Male Heterozygous CAUSAL 0
p.Thr506AsnfsX25	c.1516dup	10	506	Sm3,CH		Small rearrangement	Fr.	Stop at 530	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1255 03-VO12-E22E-952 Female Heterozygous CAUSAL W162 0 1395 01-KJ09-E22E-952 Female Heterozygous CAUSAL 0 1551 02-VO12-E22E-952 Female Heterozygous CAUSAL W2028 0
p.Val511ArgfsX51	c.1519_1526dup	10	507	Sm3,CH		Small rearrangement	Fr.	Stop at 561	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 185 04-DU18-C05L-988 Female Heterozygous CAUSAL 0
p.Ala510ProfsX23	c.1520_1526dup	10	507	Sm3,CH		Small rearrangement	Fr.	Stop at 532	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1652 02-DU18-C05L-988 Female Heterozygous CAUSAL 0
p.Pro514AlafsX17	c.1540insG	10	514	Sm3,CH		Small rearrangement	Fr.	Stop at 530	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1020 03-CO12-V05R-982 Female Heterozygous CAUSAL W146 9 1021 03-CO12-D15M-950 Male Heterozygous CAUSAL W146 9
p.Arg516ProfsX15	c.1545insG	10	515	Sm3,CH		Small rearrangement	Fr.	Stop at 530	5
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1004 03-MA21-D01V-985 Male Heterozygous CAUSAL W193 21 1005 03-MA21-G09L-959 Male Heterozygous CAUSAL W193 21 1006 03-MA21-P01T-962 Male Heterozygous CAUSAL W193 21 1008 03-MA18-P08I-957 Male Heterozygous CAUSAL W193 21 1009 03-MA18-C08R-937 Female Heterozygous CAUSAL W193 21
p.Arg516ProfsX15	c.1546dup	10	516	Sm3,CH		Small rearrangement	Fr.	Stop at 530	115
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1892 04-ME14-L21E-983 Female Heterozygous CAUSAL 21 187 04-BE18-M25R-971 Female Heterozygous CAUSAL W1052 21 191 04-DU13-J05A-964 Male Heterozygous CAUSAL W172 21 192 04-FO18-A14N-932 Female Heterozygous CAUSAL W84 21 193 04-GR01-S01B-950 Female Heterozygous CAUSAL W1096 21 195 04-JE26-P05R-995 Female Heterozygous CAUSAL W2086 21 196 04-JE26-H21G-953 Female Heterozygous CAUSAL W2086 21 197 04-MA18-L21C-988 Female Heterozygous CAUSAL W2086 21 198 04-MA18-G23E-986 Female Heterozygous CAUSAL W2086 21 201 04-PI14-A12E-982 Male Heterozygous CAUSAL W1055 21 202 04-PO16-H21G-967 Male Heterozygous CAUSAL W1083 21 203 04-RE19-B05R-940 Female Heterozygous CAUSAL W216 21 1126 03-MO08-N01D-990 Male Heterozygous CAUSAL W1110 21 952 03-AB02-E13I-990 Female Heterozygous CAUSAL W172 21 956 03-FU07-V09N-976 Male Heterozygous CAUSAL W1119 3 964 03-SI24-B05A-963 Female Heterozygous CAUSAL W1067 3 968 03-MO08-S13A-953 Male Heterozygous CAUSAL W1110 3 975 03-GR01-L21C-975 Male Heterozygous CAUSAL W1096 3 992 03-AR14-G21Y-971 Male Heterozygous CAUSAL W1067 3 999 03-LE17-F01B-968 Female Heterozygous CAUSAL W215 7 1002 03-TR05-D09M-990 Male Heterozygous CAUSAL W216 3 1003 03-SA14-B05A-965 Female Heterozygous CAUSAL W216 3 1013 03-CH05-I12A-990 Male Heterozygous CAUSAL W179 15 1014 03-CH05-L09S-987 Female Heterozygous CAUSAL W179 15 1015 03-CH05-M01R-958 Female Heterozygous CAUSAL W179 15 1025 03-KO18-H05L-944 Female Heterozygous CAUSAL W84 3 1026 03-KO18-A18I-978 Female Heterozygous CAUSAL W84 3 1043 03-KO18-M01Y-976 Female Heterozygous CAUSAL W84 21 1048 03-DU13-J05A-964 Male Heterozygous CAUSAL W172 21 1050 03-MO18-M09C-947 Female Heterozygous CAUSAL W44 21 1054 03-TR05-V05R-964 Female Heterozygous CAUSAL W216 21 1055 03-PO09-B05R-952 Female Heterozygous CAUSAL W6 21 1056 03-JA25-J05A-951 Male Heterozygous CAUSAL W6 21 1067 03-PI05-A21R-986 Female Heterozygous CAUSAL W84 21 1076 03-JA25-S01N-980 Female Heterozygous CAUSAL W6 21 1077 03-JA25-M01R-986 Female Heterozygous CAUSAL W6 21 1086 03-CH21-S01B-981 Female Heterozygous CAUSAL W6 21 1091 03-HA21-M01U-929 Male Heterozygous CAUSAL W177 21 1093 03-HA21-N15R-971 Male Heterozygous CAUSAL W177 21 1097 03-LE17-P09E-926 Male Heterozygous CAUSAL W215 21 1099 03-YA04-L01U-975 Female Heterozygous CAUSAL W1049 21 1100 03-DU13-J05A-941 Male Heterozygous CAUSAL W172 21 1101 03-AB02-L01U-966 Female Heterozygous CAUSAL W172 21 1105 03-DH08-S25L-971 Female Heterozygous CAUSAL W1055 21 1109 03-SA02-M09C-945 Male Heterozygous CAUSAL W44 21 1119 03-HI22-G05R-957 Male Heterozygous CAUSAL W8 21 1144 03-CA07-H05L-935 Female Heterozygous CAUSAL W84 21 1145 03-PI05-G08I-960 Male Heterozygous CAUSAL W84 21 1146 03-CH21-P01T-959 Female Heterozygous CAUSAL W6 21 1147 03-JA25-R01Y-926 Male Heterozygous CAUSAL W6 21 1150 03-JA04-G05R-936 Male Heterozygous CAUSAL W38 21 1153 03-LA22-A07N-968 Female Heterozygous CAUSAL W35 21 1154 03-JA25-O03T-952 Male Heterozygous CAUSAL W6 21 1157 03-JA25-F01B-971 Male Heterozygous CAUSAL W6 21 1162 03-MO18-R15G-920 Male Heterozygous CAUSAL W44 21 1176 03-SA14-A04R-003 Male Heterozygous CAUSAL W216 21 1177 03-SA14-C12E-000 Male Heterozygous CAUSAL W216 21 1179 03-SA14-L21C-998 Female Heterozygous CAUSAL W216 21 1190 03-HA21-B05N-003 Male Heterozygous CAUSAL W177 21 1195 03-MO21-C25R-974 Male Heterozygous CAUSAL W2034 21 1196 03-MO21-C08R-954 Male Heterozygous CAUSAL W2034 21 1202 03-GU09-M01R-954 Female Heterozygous CAUSAL 3 1630 02-BO21-D09N-000 Female Heterozygous CAUSAL W2045 21 1239 03-NA18-M01U-956 Male Heterozygous CAUSAL 21 1263 03-BE18-M09C-945 Male Heterozygous CAUSAL 21 1269 03-HA21-V01L-998 Male Heterozygous CAUSAL W177 21 1272 03-PI14-S25L-971 Female Heterozygous CAUSAL W1055 21 1325 01-LE07-I19A-971 Female Heterozygous CAUSAL W35 3 1326 01-DE12-A07N-968 Female Heterozygous CAUSAL W35 3 1327 01-LA22-M01R-003 Female Heterozygous CAUSAL W35 3 1328 01-DE12-F05R-945 Female Heterozygous CAUSAL W35 3 1329 01-CA26-B05R-952 Male Heterozygous CAUSAL W35 3 1330 01-CA26-C05C-985 Female Heterozygous CAUSAL W35 3 1331 01-CA26-S05B-990 Male Heterozygous CAUSAL W35 3 1332 01-CA26-A14D-926 Male Heterozygous CAUSAL W35 3 1333 01-SU13-P01S-959 Female Heterozygous CAUSAL W35 3 1334 01-SU13-D15M-955 Female Heterozygous CAUSAL W35 3 1335 01-SU13-J05A-932 Female Heterozygous CAUSAL W35 3 1336 01-LE03-M01R-000 Female Heterozygous CAUSAL W35 3 1337 01-LE03-R05N-000 Male Heterozygous CAUSAL W35 3 1338 01-LE03-C05C-000 Female Heterozygous CAUSAL W35 3 1371 01-FO18-J15S-961 Female Heterozygous CAUSAL W84 21 1396 01-VE12-J15N-985 Male Heterozygous CAUSAL W6 12 1397 01-PO09-I19A-979 Female Heterozygous CAUSAL W6 12 1398 01-JA25-A24E-998 Male Heterozygous CAUSAL W6 12 1399 01-JA25-A14N-984 Female Heterozygous CAUSAL W6 12 1400 01-VI12-C15R-969 Female Heterozygous CAUSAL W6 12 1401 01-JA25-J05A-928 Female Heterozygous CAUSAL W6 12 1402 01-DE17-M01D-924 Female Heterozygous CAUSAL W6 12 1404 01-PO16-L01U-961 Female Heterozygous CAUSAL W1083 14 1405 01-DE06-C08A-932 Female Heterozygous CAUSAL W1083 14 1407 01-MO18-Z15E-002 Female Heterozygous CAUSAL W215 14 1417 01-ME09-M01R-924 Male Heterozygous CAUSAL W1047 14 1527 02-RE19-M25R-962 Female Heterozygous CAUSAL W216 7 1528 02-RE19-V09N-970 Male Heterozygous CAUSAL W216 7 1529 02-RE19-D01V-996 Male Heterozygous CAUSAL W216 7 1544 02-LE13-C01T-956 Female Heterozygous CAUSAL 21 1545 02-PE20-B05T-956 Female Heterozygous CAUSAL W6 21 1546 02-PE20-S05B-979 Male Heterozygous CAUSAL W6 21 1565 02-DE12-C01M-939 Female Heterozygous CAUSAL W1088 7 1566 02-DE12-H05N-934 Male Heterozygous CAUSAL W1088 3 1610 02-CO08-Y22A-964 Male Heterozygous CAUSAL W179 15 1611 02-CO08-M09C-971 Male Heterozygous CAUSAL W179 15 1612 02-CO08-A12F-960 Male Heterozygous CAUSAL W179 15 1628 02-BO21-M05B-948 Female Heterozygous CAUSAL W2045 21 1629 02-BO21-R01C-000 Male Heterozygous CAUSAL W2045 21 1631 02-BO21-S01M-000 Female Heterozygous CAUSAL W2045 21 1632 02-ZA26-M15H-007 Male Heterozygous CAUSAL W2061 21 1633 02-ZA26-L09N-013 Female Heterozygous CAUSAL W2061 21 1786 02-CA18-A12A-959 Male Heterozygous CAUSAL 21 1787 02-CO08-P01U-938 Female Heterozygous CAUSAL W179 21 1837 02-RO03-J15N-984 Male Heterozygous CAUSAL W2026 21 1838 02-RO03-L01U-961 Female Heterozygous CAUSAL W2026 21 1839 02-RO03-C12A-990 Female Heterozygous CAUSAL W2026 21 1888 04-TO13-A14D-981 Male Heterozygous CAUSAL 21
p.Gly520TrpfsX11	c.1556dup	10	519	Sm3,CH		Small rearrangement	Fr.	Stop at 530	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1635 02-CH09-M05H-981 Male Heterozygous CAUSAL 0
p.Val566GlyfsX23	c.1695_1696dup	10	565	Sm,ASK,CH		Small rearrangement	Fr.	Stop at 588	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1250 03-MU12-J21L-993 Male Heterozygous CAUSAL w255 0 1256 03-GA21-B18I-960 Female Heterozygous CAUSAL 0