The UMD-MEN1 mutations database
Small deletions (364 records)

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Leu3X	c.7delC	2	3	Ju, NM, RP		Small rearrangement	Fr.	Stop at 3	8
UMD_id Sample ID Gender Mutation status Variation class Family ID References 307 03-GA13-D15M-968 Female Heterozygous CAUSAL W69 0 422 03-GA13-A14N-994 Female Heterozygous CAUSAL W69 0 1445 02-RE13-A12A-952 Male Heterozygous CAUSAL W2023 0 1831 02-RE13-A12I-981 Female Heterozygous CAUSAL W2023 0 1832 02-RE13-C05C-988 Female Heterozygous CAUSAL W2023 0 1833 02-RE13-G21Y-947 Male Heterozygous CAUSAL W2023 0 1834 02-RE13-M09C-985 Male Heterozygous CAUSAL W2023 0 1835 02-RE13-Y22E-920 Female Heterozygous CAUSAL W2023 0
p.Phe23LeufsX96	c.69delT	2	23	Ju, NM, RP		Small rearrangement	Fr.	Stop at 118	6
UMD_id Sample ID Gender Mutation status Variation class Family ID References 3 04-MA12-B18I-945 Female Heterozygous CAUSAL W19 3 4 04-MA12-J05A-973 Male Heterozygous CAUSAL W19 3 293 03-GE18-S25L-971 Female Heterozygous CAUSAL W19 3 298 03-BR09-L09L-951 Female Heterozygous CAUSAL W19 9 299 03-ME09-S15N-944 Female Heterozygous CAUSAL W19 9 373 03-AL10-M15N-948 Female Heterozygous CAUSAL W19 3
p.Leu27ArgfsX89	c.79_88del	2	27	Ju, NM, RP		Small rearrangement	Fr.	Stop at 115	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 261 03-GE15-L21D-971 Male Heterozygous CAUSAL W1059 0 262 03-GE15-C08R-973 Male Heterozygous CAUSAL W1059 0 389 03-GE15-M09C-947 Male Heterozygous CAUSAL W1059 20 1664 02-MI12-D01M-969 Male Heterozygous CAUSAL 0
p.Val35CysfsX84	c.103delG	2	35	Ju, NM, RP		Small rearrangement	Fr.	Stop at 118	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1392 01-HE18-M01R-988 Female Heterozygous Mutation W1120 0
p.Leu37_Leu41del	c.108_122del	2	36	Ju, NM, RP		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1927 02-VA18-V09-990 Male LIKELY CAUSAL W2018-11 0
p.Pro55GlnfsX60	c.164_168delCTACC	2	55	Sm, NM		Small rearrangement	Fr.	Stop at 114	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 12 04-LL05-C08I-974 Female Heterozygous CAUSAL 0
p.Glu60SerfsX59	c.177delC	2	59	Sm, NM		Small rearrangement	Fr.	Stop at 118	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 241 03-RA02-M01R-978 Female Heterozygous CAUSAL W235 3
p.Pro69TrpfsX44	c.205_215del	2	69	Sm, NM		Small rearrangement	Fr.	Stop at 112	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 13 04-KW09-K05V-992 Male Heterozygous CAUSAL W2077 6 14 04-KW09-E18I-962 Male Heterozygous CAUSAL W2077 6
p.Tyr77ThrfsX42	c.228delC	2	76	Sm, NM		Small rearrangement	Fr.	Stop at 118	5
UMD_id Sample ID Gender Mutation status Variation class Family ID References 352 03-VI14-A14T-958 Male Heterozygous CAUSAL W80 7 353 03-VI14-D15M-952 Male Heterozygous CAUSAL W80 0 354 03-VI14-F18A-947 Male Heterozygous CAUSAL W80 7 355 03-VI14-O18E-925 Female Heterozygous CAUSAL W80 0 358 03-VI14-R01P-970 Male Heterozygous CAUSAL W80 7
p.Ile85SerfsX33	c.247_250delCTGT	2	83	Sm, NM		Small rearrangement	Fr.	Stop at 117	7
UMD_id Sample ID Gender Mutation status Variation class Family ID References 327 03-CH01-D15M-953 Male Heterozygous CAUSAL W152 0 1322 01-BU09-E04I-960 Female Heterozygous CAUSAL W152 0 1522 02-HI09-M09C-945 Female Heterozygous CAUSAL W2059 0 1523 02-HI09-M25R-979 Female Heterozygous CAUSAL W2059 0 1524 02-GI01-E19T-968 Female Heterozygous CAUSAL W2003 0 1525 02-GI01-R15B-995 Male Heterozygous CAUSAL W2003 0 1526 02-GI01-M15R-990 Female Heterozygous CAUSAL W2003 0
p.Ile85SerfsX33	c.249_252delGTCT	2	83	Sm, NM		Small rearrangement	Fr.	Stop at 117	45
UMD_id Sample ID Gender Mutation status Variation class Family ID References 22 04-BI03-S15F-004 Male Heterozygous CAUSAL W22 8 23 04-GR26-G09S-957 Female Heterozygous CAUSAL 8 24 04-LA13-A12A-958 Male Heterozygous CAUSAL W7 8 25 04-SU01-J01D-987 Female Heterozygous CAUSAL W257 8 231 03-MA08-B12A-972 Male Heterozygous CAUSAL W257 8 250 03-BO21-N01D-955 Female Heterozygous CAUSAL 8 251 03-MA08-A12E-987 Male Heterozygous CAUSAL W257 8 252 03-MA08-P01T-951 Male Heterozygous CAUSAL W257 8 253 03-SU01-E04I-958 Female Heterozygous CAUSAL W257 8 258 03-OS12-C08A-998 Female Heterozygous CAUSAL W1038 8 259 03-OS12-Y22E-942 Female Heterozygous CAUSAL W1038 8 276 03-RO13-S05B-977 Male Heterozygous CAUSAL W130 12 277 03-DE22-N01T-989 Female Heterozygous CAUSAL W130 9 278 03-DE12-C08R-964 Male Heterozygous CAUSAL W130 9 290 03-LA13-V01L-000 Female Heterozygous CAUSAL W7 2 292 03-JU09-M01R-950 Female Heterozygous CAUSAL W130 2 295 03-LA13-P09E-951 Male Heterozygous CAUSAL W7 8 296 03-LA13-M01R-960 Female Heterozygous CAUSAL W7 8 302 03-PA18-J05A-960 Female Heterozygous CAUSAL W130 8 309 03-VI14-C08R-951 Male Heterozygous CAUSAL W86 15 313 03-GA14-D10A-991 Male Heterozygous CAUSAL W22 7 314 03-GA14-D01O-995 Female Heterozygous CAUSAL W22 7 317 03-BI03-S09H-984 Female Heterozygous CAUSAL W22 15 321 03-CH05-B05R-955 Female Heterozygous CAUSAL W7 15 330 03-GA14-S01M-986 Female Heterozygous CAUSAL W22 15 334 03-RO21-S05B-972 Male Heterozygous CAUSAL W143 15 335 03-RO21-C01R-975 Female Heterozygous CAUSAL W143 15 336 03-R021-M01R-953 Female Heterozygous CAUSAL W143 15 341 03-BA21-I18E-923 Female Heterozygous CAUSAL W102 15 344 03-BI03-M15H-977 Male Heterozygous CAUSAL W22 15 347 03-PH09-V09N-962 Male Heterozygous CAUSAL W130 15 356 03-GA14-A13A-954 Male Heterozygous CAUSAL W22 15 357 03-LA13-GE14-949 Female Heterozygous CAUSAL W7 15 368 03-BI03-K08E-952 Female Heterozygous CAUSAL W22 15 371 03-MA18-R15S-947 Female Heterozygous CAUSAL W113 15 381 03-MA18-S01C-010 Male Heterozygous CAUSAL W2078 15 397 03-LE07-M15N-954 Female Heterozygous CAUSAL W130 15 403 03-MA18-A04R-981 Male Heterozygous CAUSAL W2078 15 405 03-OS12-J05A-969 Male Heterozygous CAUSAL W1038 15 410 03-SU01-A14N-976 Female Heterozygous CAUSAL W257 15 417 03-NU05-Z09G-985 Male Heterozygous CAUSAL 15 1896 03-MA18-A12Y-006 Female Heterozygous CAUSAL W2078 15 1290 01-AR03-J05A-947 Male Heterozygous CAUSAL W198 15 1662 02-LE18-M01R-970 Male Heterozygous CAUSAL 21 1775 02-BA21-J15H-948 Male Heterozygous CAUSAL W102 15
p.Leu89_Ala95del	c.266_286del	2	89	Sm, NM		Small rearrangement	InF	In frame del	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1771 02-AL02-P08I-951 Male Heterozygous UV W2001 0 1795 02-DEO-A12Z-967 Female Heterozygous UV W2001 0
p.Arg92AlafsX27	c.274delC	2	92	Sm, NM		Small rearrangement	Fr.	Stop at 118	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 308 03-PA18-A21R-979 Female Heterozygous CAUSAL W164 9 324 03-PA18-G21Y-949 Male Heterozygous CAUSAL W164 9
p.Leu103ProfsX15	c.307_310delCTGT	2	103	Sm, NM		Small rearrangement	Fr.	Stop at 117	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 291 03-RO26-A14N-982 Female Heterozygous CAUSAL W252 0
p.Ser104ProfsX15	c.309delG	2	103	Sm, NM		Small rearrangement	Fr.	Stop at 118	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1320 01-BR21-J01C-950 Female Heterozygous CAUSAL 0
p.Lys120del	c.358_360delAAG	2	120	Sm, NM		Small rearrangement	InF	In frame del	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 374 03-MA18-C08R-954 Female Heterozygous CAUSAL W1035 3 400 03-GO13-R09C-974 Male Heterozygous CAUSAL W2087 3 414 03-GO13-C05C-950 Female Heterozygous CAUSAL W2087 15 1811 02-GO13-A06O-965 Male Heterozygous CAUSAL W2087 11
p.Ile125MetfsX54	c.375_376delAT	2	125	Sm, NM		Small rearrangement	Fr.	Stop at 178	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 319 03-JO19-C08A-955 Female Heterozygous CAUSAL W114 9 320 03-JO19-S01B-983 Female Heterozygous CAUSAL W114 9 323 03-DE21-B05R-952 Male Heterozygous CAUSAL W114 9
p.Phe134LeufsX51	c.402delC	2	134	Sm, NM		Small rearrangement	Fr.	Stop at 184	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 35 04-SN25-B05N-977 Male Heterozygous CAUSAL 2
p.His139ThrfsX46	c.415delC	2	139	Ju, Sm, NM		Small rearrangement	Fr.	Stop at 184	5
UMD_id Sample ID Gender Mutation status Variation class Family ID References 38 04-MU12-N01T-989 Male Heterozygous CAUSAL W2088 9 39 04-MU12-H01R-959 Male Heterozygous CAUSAL W2088 9 279 03-SC08-C12E-989 Female Heterozygous CAUSAL W117 9 340 03-SC08-L09S-982 Female Heterozygous CAUSAL W117 9 343 03-SC08-M09C-950 Male Heterozygous CAUSAL W117 9
p.Ile147_Ile147del	c.440_442delTCA	2	147	Ju, Sm,NM,HD		Small rearrangement	InF	In frame del	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 402 03-BE01-G05R-008 Female Heterozygous UV 20 1936 04-MO11-K01-964 Female CAUSAL 0
p.Lys151AsnfsX28	c.453_454delAT	3	151	Ju, Sm,NM,HD		Small rearrangement	Fr.	Stop at 178	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1511 02-MA18-E12E-984 Female Heterozygous CAUSAL W171 0 1512 02-MA18-S05R-945 Male Heterozygous CAUSAL W171 0 1513 02-MA18-V01L-982 Female Heterozygous CAUSAL W171 0
p.Gly169ValfsX16	c.504delG	3	168	Ju,Sm,NMH,HD,NM		Small rearrangement	Fr.	Stop at 184	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1785 02-CA18-P01T-979 Male Heterozygous CAUSAL 0
p.Phe186_Gly187del	c.556_561del	3	186	Ju,Sm,NMH,HD,NM		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 505 03-CO03-N01T-969 Female Heterozygous CAUSAL 0
p.Glu195ThrfsX21	c.582_606del	3	194	Ju,Sm,NMH,HD,NM		Small rearrangement	Fr.	Stop at 215	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 48 04-LE03-D05N-969 Male Heterozygous CAUSAL 0
p.Thr197del	c.589_591delACC	3	197	Ju,Sm,NMH,HD,NM		Small rearrangement	InF	In frame del	5
UMD_id Sample ID Gender Mutation status Variation class Family ID References 474 03-RE07-S01N-977 Female Heterozygous CAUSAL W60 7 482 03-RE07-G21Y-953 Male Heterozygous CAUSAL W60 7 486 03-RE07-J01C-950 Male Heterozygous CAUSAL W60 9 490 03-RE07-M09C-945 Male Heterozygous CAUSAL W60 9 491 03-RE07-K18I-981 Male Heterozygous CAUSAL W60 9
p.Asn203LysfsX21	c.609delC	3	203	Ju,Sm,NMH,HD,NM		Small rearrangement	Fr.	Stop at 223	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1877 04-CA22-C15R-972 Female Heterozygous CAUSAL 13
p.Gly208AlafsX16	c.623delG	3	208	Ju,Sm,NMH,HD,NM		Small rearrangement	Fr.	Stop at 223	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 57 04-BA21-C08R-979 Female Heterozygous CAUSAL W2065 10 1872 04-BA21-R21B-011 Female Heterozygous CAUSAL W2065 10
p.Gln209SerfsX7	c.625_629delCAGAC	3	209	Ju,Sm,NMH,HD,NM		Small rearrangement	Fr.	Stop at 215	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 526 03-DU13-C05L-978 Female Heterozygous CAUSAL 0
p.Thr210SerfsX13	c.628_631delACAG	3	210	Ju,Sm,NMH,HD,NM		Small rearrangement	Fr.	Stop at 222	34
UMD_id Sample ID Gender Mutation status Variation class Family ID References 58 04-TI19-C09N-980 Female Heterozygous CAUSAL W2066 11 59 04-DA03-B05N-000 Male Heterozygous CAUSAL W2066 11 60 04-DA03-B18A-007 Male Heterozygous CAUSAL W2066 11 61 04-GA04-E12O-983 Female Heterozygous CAUSAL W2066 11 62 04-GA04-L21C-993 Female Heterozygous CAUSAL W2066 11 63 04-GO13-S25V-972 Female Heterozygous CAUSAL W2066 11 64 04-HE18-C01R-962 Female Heterozygous CAUSAL W2066 11 65 04-HE18-A14N-964 Male Heterozygous CAUSAL W2066 11 66 04-HE18-A21R-993 Male Heterozygous CAUSAL W2066 11 67 04-HE18-M01R-965 Female Heterozygous CAUSAL W2066 11 68 04-HE18-J21A-956 Male Heterozygous CAUSAL W2066 11 69 04-LA14-J15S-954 Male Heterozygous CAUSAL W2066 11 70 04-TH05-E19T-977 Female Heterozygous CAUSAL W2066 11 71 04-VI04-E14Z-011 Male Heterozygous CAUSAL W2066 11 475 03-RO25-J05A-971 Male Heterozygous CAUSAL W176 13 476 03-LA18-A14N-947 Female Heterozygous CAUSAL W105 13 477 03-VE18-C05L-978 Female Heterozygous CAUSAL W107 13 478 03-GO13-B05R-971 Male Heterozygous CAUSAL W126 13 485 03-RO25-A07N-962 Female Heterozygous CAUSAL W176 15 495 03-VE18-C08A-954 Female Heterozygous CAUSAL W107 15 499 03-RO25-J05A-939 Male Heterozygous CAUSAL W176 15 502 03-MO09-G05R-954 Male Heterozygous CAUSAL W2089 15 503 03-MO09-M01U-996 Female Heterozygous CAUSAL W2089 15 509 03-MO09-F12A-991 Female Heterozygous CAUSAL W2089 15 512 03-BE01-D01V-983 Male Heterozygous CAUSAL 15 513 03-RO25-N01T-002 Male Heterozygous CAUSAL W176 15 1343 01-CO21-N09C-983 Male Heterozygous CAUSAL W183 13 1406 01-LE16-S01N-969 Female Heterozygous CAUSAL 0 1411 01-MA18-A21D-985 Female Heterozygous CAUSAL 27 1420 01-MA26-O12I-967 Male Heterozygous CAUSAL W2060 0 1448 01-RO07-A18N-974 Male Heterozygous CAUSAL 0 1587 02-HE18-J05A-956 Male Heterozygous CAUSAL W2074 21 1588 02-HE18-B05N-988 Male Heterozygous CAUSAL W2074 21 1614 02-BA18-Y22E-964 Male Heterozygous CAUSAL W204 15
p.Ala213ProfsX11	c.637delG	3	213	Ju,Sm,NMH,HD,NM		Small rearrangement	Fr.	Stop at 223	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 460 03-DO19-S01B-991 Female Heterozygous CAUSAL W195 0 471 03-DO19-A18S-964 Male Heterozygous CAUSAL W195 0 1364 01-DO19-R15S-967 Female Heterozygous CAUSAL W195 0
p.Leu223X	c.667delC	4	223	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Fr.	Stop at 223	12
UMD_id Sample ID Gender Mutation status Variation class Family ID References 560 03-RA02-N15E-004 Female Heterozygous CAUSAL W27 3 561 03-RA02-L21C-002 Male Heterozygous CAUSAL W27 3 568 03-ME18-E04W-958 Female Heterozygous CAUSAL W27 3 573 03-ME18-A14T-988 Male Heterozygous CAUSAL W27 9 575 03-GUO9-D01N-948 Male Heterozygous CAUSAL W27 3 580 03-RA02-S20E-975 Male Heterozygous CAUSAL W27 3 602 03-BR15-S25L-971 Female Heterozygous CAUSAL W27 3 603 03-GU09-B05R-947 Male Heterozygous CAUSAL W27 3 604 03-GU09-D01V-973 Male Heterozygous CAUSAL W27 3 605 03-GU09-H05L-978 Female Heterozygous CAUSAL W27 3 606 03-RA02-C08R-951 Female Heterozygous CAUSAL W27 3 1553 02-MO18-S15P-968 Female Heterozygous CAUSAL 3
p.Leu223ArgfsX58	c.668delT	4	223	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Fr.	Stop at 280	7
UMD_id Sample ID Gender Mutation status Variation class Family ID References 586 03-TO18-O04E-925 Female Heterozygous CAUSAL W16 9 587 03-TO18-R05N-943 Female Heterozygous CAUSAL W16 9 588 03-WA18-C08R-985 Male Heterozygous CAUSAL W16 9 589 03-WA18-D05N-952 Female Heterozygous CAUSAL W16 9 590 03-LE02-C12A-955 Female Heterozygous CAUSAL W16 9 591 03-BO14-J05A-958 Male Heterozygous CAUSAL W16 9 1609 02-WA18-C08L-006 Female Heterozygous CAUSAL W16 9
p.Met239HisfsX2	c.711_733del	4	237	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Fr.	Stop at 240	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 608 03-PI03-J01C-941 Male Heterozygous CAUSAL W2010 0 609 03-BO21-M01X-003 Male Heterozygous CAUSAL w31 0 610 03-PI03-K01R-975 Female Heterozygous CAUSAL W2010 0
p.Leu254ArgfsX27	c.761delT	4	254	Sm,NM,NMH,FA,HD		Small rearrangement	Fr.	Stop at 280	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 565 03-FE18-N09C-979 Male Heterozygous CAUSAL W1041 0 1416 01-MA26-S25L-981 Female Heterozygous CAUSAL 0
p.Leu259ArgfsX22	c.776delT	4	259	Sm,NM,NMH,FA,HD		Small rearrangement	Fr.	Stop at 280	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1367 01-FA07-S01B-981 Female Heterozygous CAUSAL 0
p.Leu273TrpfsX8	c.816delT	5	272	Sm,NM,NMH,FA,HD		Small rearrangement	Fr.	Stop at 280	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 680 03-CH01-A14N-946 Female Heterozygous CAUSAL W1042 0
p.His303GlnfsX13	c.909_910delCA	6	303	Pem,NM,RP,NMH,FA,HD		Small rearrangement	Fr.	Stop at 315	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1602 02-LO14-G21Y-982 Male Heterozygous CAUSAL W194 0
p.Tyr312ThrfsX56	c.933delC	7	311	NF,NM,RP,FA,HD		Small rearrangement	Fr.	Stop at 367	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 755 03-ME02-N15R-975 Female Heterozygous CAUSAL W1043 0 757 03-ME02-S05B-976 Male Heterozygous CAUSAL W1043 0
p.Arg335_Leu338del	c.1004_1015del	7	335	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1921 04-LA02-A14-988 Male LIKELY CAUSAL 0
p.Ala340ProfsX28	c.1018delG	7	340	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Fr.	Stop at 367	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 713 Male Heterozygous CAUSAL W267 0 714 03-MO14-C08R-957 Male Heterozygous CAUSAL W267 0
p.Thr346SerfsX20	c.1037_1038delCT	7	346	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Fr.	Stop at 365	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 754 03-AO21-Y15U-946 Male Heterozygous CAUSAL W1044 0
p.Gln349ThrfsX17	c.1045_1051del	7	349	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Fr.	Stop at 365	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 712 03-NO05-F18E-970 Male Heterozygous CAUSAL W236 0 752 03-NO05-J01C-945 Male Heterozygous CAUSAL W236 0
p.Cys354AlafsX14	c.1060delT	8	354	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Fr.	Stop at 367	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1310 01-BI05-H05R-958 Male Heterozygous CAUSAL W1046 14
p.Glu359del	c.1075_1077delGAG	8	359	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	InF	In frame del	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 134 04-HU19-G09L-962 Male Heterozygous LIKELY CAUSAL W1092 6 135 04-EN15-N09C-950 Female Heterozygous LIKELY CAUSAL W1092 6 811 03-HU19-S25L-962 Female Heterozygous LIKELY CAUSAL W1092 6
p.Ile372ThrfsX5	c.1115delT	8	372	Ju,NF,Pem,NM,RP,FA,mS,HD		Small rearrangement	Fr.	Stop at 376	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 788 03-OT08-D05N-944 Female Heterozygous CAUSAL W228 0 789 03-OT08-N15R-937 Male Heterozygous CAUSAL W228 0 804 03-OT08-B18I-960 Female Heterozygous CAUSAL W228 0
p.Gln398ArgfsX47	c.1192delC	9	398	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Fr.	Stop at 444	11
UMD_id Sample ID Gender Mutation status Variation class Family ID References 829 03-BE25-A13B-001 Female Heterozygous CAUSAL W87 7 833 03-FO18-G09L-951 Male Heterozygous CAUSAL W87 7 835 03-MA21-S05B-000 Male Heterozygous CAUSAL W87 7 836 03-FO18-G21Y-947 Male Heterozygous CAUSAL W87 7 837 03-LE19-E04W-963 Female Heterozygous CAUSAL W87 7 838 03-FO18-R01Y-929 Male Heterozygous CAUSAL W87 7 851 03-MA21-G08I-958 Female Heterozygous CAUSAL W87 29 858 03-CR05-V01N-981 Female Heterozygous CAUSAL W87 7 859 03-CR05-N09C-983 Male Heterozygous CAUSAL W87 7 861 03-BE25-S25L-962 Female Heterozygous CAUSAL W87 7 874 03-CR05-G09N-956 Female Heterozygous CAUSAL W87 7
p.Leu404SerfsX41	c.1210delC	9	404	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Fr.	Stop at 444	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 146 04-KH15-R09M-981 Female Heterozygous CAUSAL W188 0 147 04-KH15-B15U-963 Female Heterozygous CAUSAL W188 0 148 04-KH15-C08A-100 Female Heterozygous CAUSAL W188 0
p.Asp406ThrfsX39	c.1216delG	9	406	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Fr.	Stop at 444	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 867 03-DU02-N09C-950 Female Heterozygous CAUSAL W32 8 868 03-DU02-H05R-970 Male Heterozygous CAUSAL W32 9 928 03-DU02-A13A-994 Female Heterozygous CAUSAL W32 9
p.Leu414_Leu414del	c.1241_1243delTGC	9	414	Ju,Pem,NM,RP,HD,CH		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1947 04-HA13-S09-964 Female CAUSAL 0
p.Asp418_Cys421del	c.1252_1263del	9	418	Ju,Pem,NM,RP,HD,CH		Small rearrangement	InF	In frame del	7
UMD_id Sample ID Gender Mutation status Variation class Family ID References 823 03-DA13-S15P-987 Female Heterozygous CAUSAL W3 7 856 03-DA13-J05A-954 Male Heterozygous CAUSAL W3 7 863 03-PY00-D01N-945 Female Heterozygous CAUSAL W3 7 864 03-TA09-M01R-952 Female Heterozygous CAUSAL W3 7 865 03-DA13-P09E-958 Male Heterozygous CAUSAL W3 7 900 03-DA13-M01R-929 Female Heterozygous CAUSAL W3 7 1601 02-PA13-C08A-991 Female Heterozygous CAUSAL W3 0
p.Lys422AsnfsX23	c.1266delA	9	422	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Fr.	Stop at 444	6
UMD_id Sample ID Gender Mutation status Variation class Family ID References 843 03-SC15-J05A-973 Male Heterozygous CAUSAL W51 9 844 03-SC15-G09S-944 Female Heterozygous CAUSAL W51 9 872 03-SO09-M15N-954 Female Heterozygous CAUSAL W51 9 902 03-SO09-C12A-943 Male Heterozygous CAUSAL W51 3 903 03-SO09-J05A-950 Male Heterozygous CAUSAL W51 3 1552 02-SO09-M01U-939 Male Heterozygous CAUSAL W51 3
p.Glu425_Glu425del	c.1274_1276delAGG	9	425	Ju,Pem,NM,RP,HD,CH		Small rearrangement	InF	In frame del	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 841 03-DO18-J15C-996 Male Heterozygous CAUSAL W67 9 875 03-DO18-P01T-966 Female Heterozygous CAUSAL W67 3 877 03-GA21-A14N-949 Female Heterozygous CAUSAL W67 9 897 03-GA21-E18N-924 Male Heterozygous CAUSAL W67 9
p.Phe439LeufsX5	c.1317_1320delTCTT	9	439	Pem,NM,RP,HD,CH		Small rearrangement	Fr.	Stop at 443	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 898 03-TA12-C12A-937 Male Heterozygous CAUSAL W1 3 899 03-TA12-M09C-960 Male Heterozygous CAUSAL W1 3 904 03-BE18-R15L-933 Female Heterozygous CAUSAL W1 7
p.Gln442ProfsX3	c.1325_1335del	9	442	Pem,NM,RP,HD,CH		Small rearrangement	Fr.	Stop at 444	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 162 04-CO21-C08R-966 Male Heterozygous CAUSAL 0
p.Leu444X	c.1330delC	9	444	Pem,NM,RP,HD,CH		Small rearrangement	Fr.	Stop at 444	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 163 04-AY05-M09C-976 Male Heterozygous CAUSAL W2082 0 164 04-AY05-D25L-998 Male Heterozygous CAUSAL W2082 0 165 04-AY05-E25T-006 Male Heterozygous CAUSAL W2082 0
p.Phe447GlyfsX80	c.1339_1349del	9	447	Pem,NM,RP,HD,CH		Small rearrangement	Fr.	Stop at 526	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 820 03-MA19-G09U-934 Female Heterozygous CAUSAL W1080 3 873 03-RO19-J05A-969 Male Heterozygous CAUSAL W53 3 878 03-FR01-E13M-931 Female Heterozygous CAUSAL W53 3
p.Gln453ArgfsX5	c.1356delG	10	452	Pem,NM,CH		Small rearrangement	Fr.	Stop at 457	5
UMD_id Sample ID Gender Mutation status Variation class Family ID References 957 03-BU09-L25D-975 Female Heterozygous CAUSAL W1140 0 962 03-VI14-F01B-976 Female Heterozygous CAUSAL W1105 0 1130 03-BU09-F18A-940 Female Heterozygous CAUSAL W1140 0 1243 03-BO03-A04R-948 Male Heterozygous CAUSAL 0 1284 03-BA18-C12A-954 Female Heterozygous CAUSAL 0
p.Glu461_Ala464del	c.1380_1391del	10	460	Pem,NM,CH		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1453 01-SE11-M01R-950 Female Heterozygous UV W1018 0
p.Glu461GlyfsX67	c.1382_1389del	10	461	Pem,NM,CH		Small rearrangement	Fr.	Stop at 527	28
UMD_id Sample ID Gender Mutation status Variation class Family ID References 172 04-MO14-G01L-990 Male Heterozygous CAUSAL W2083 0 173 04-MO14-E18I-966 Male Heterozygous CAUSAL W2083 0 174 04-MO14-E12S-996 Female Heterozygous CAUSAL W2083 0 175 04-PA07-S05V-977 Female Heterozygous CAUSAL W120 0 176 04-PA07-J15H-980 Female Heterozygous CAUSAL W120 0 177 04-PA07-E13M-979 Female Heterozygous CAUSAL W120 0 179 04-SA18-C01T-949 Female Heterozygous CAUSAL 0 953 03-JE08-D05B-989 Female Heterozygous CAUSAL W234 0 961 03-BE21-D01N-953 Male Heterozygous CAUSAL W234 0 989 03-HO21-E18I-958 Male Heterozygous CAUSAL W1054 0 1023 03-NA14-C05C-002 Female Heterozygous CAUSAL W120 0 1033 03-PA07-J15N-985 Male Heterozygous CAUSAL W120 0 1035 03-PA07-M09C-954 Male Heterozygous CAUSAL W120 0 1068 03-PA07-S05V-977 Female Heterozygous CAUSAL W120 0 1069 03-PA07-J15H-980 Female Heterozygous CAUSAL W120 0 1070 03-PA07-G05O-931 Male Heterozygous CAUSAL W120 0 1137 03-CU22-F12O-987 Male Heterozygous CAUSAL W234 0 1138 03-BE21-M01T-988 Male Heterozygous CAUSAL W234 0 1143 03-BE21-J05A-956 Male Heterozygous CAUSAL W234 0 1194 03-JE08-M01R-960 Male Heterozygous CAUSAL W234 0 1238 03-JE08-A14D-935 Female Heterozygous CAUSAL W234 0 1554 02-CA14-M09R-961 Female Heterozygous CAUSAL W234 0 1555 02-BE21-A14N-974 Female Heterozygous CAUSAL W234 0 1556 02-CA14-S05B-987 Male Heterozygous CAUSAL W234 0 1777 02-BE21-O12I-985 Male Heterozygous CAUSAL W234 0 1778 02-BE21-F18A-969 Female Heterozygous CAUSAL W234 0 1796 02-DE12-L25D-969 Female Heterozygous CAUSAL W234 0 1812 02-HO18-M15N-939 Female Heterozygous CAUSAL 0
p.Glu461_Glu466del	c.1382_1399del	10	461	Pem,NM,CH		Small rearrangement	InF	In frame del	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 967 03-NE18-P01T-953 Male Heterozygous LIKELY CAUSAL W242 0 1139 03-CU22-I19A-963 Female Heterozygous LIKELY CAUSAL W264 0
p.Glu461GlyfsX62	c.1382_1404del	10	461	Pem,NM,CH		Small rearrangement	Fr.	Stop at 522	8
UMD_id Sample ID Gender Mutation status Variation class Family ID References 178 04-PO13-S01N-975 Female Heterozygous CAUSAL W157 0 965 03-PO13-S01N-975 Female Heterozygous CAUSAL W157 9 1040 03-PO13-C08R-951 Female Heterozygous CAUSAL W157 9 1061 03-PO13-N01T-974 Female Heterozygous CAUSAL W157 9 1062 03-AU02-F12O-988 Female Heterozygous CAUSAL W157 0 1089 03-AU02-A18N-984 Male Heterozygous CAUSAL W157 0 1094 03-AU02-M01R-948 Male Heterozygous CAUSAL W157 9 1095 03-AU02-F18A-976 Male Heterozygous CAUSAL W157 9
p.Glu486SerfsX73	c.1456delG	10	486	Sm,NM,CH		Small rearrangement	Fr.	Stop at 558	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1344 01-DA14-F18A-970 Male Heterozygous CAUSAL W1087 0
p.Lys496ArgfsX63	c.1487delA	10	496	Sm3,CH		Small rearrangement	Fr.	Stop at 558	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1204 03-PE18-D09E-000 Male Heterozygous CAUSAL W2031 0 1286 03-PE18-G21I-997 Male Heterozygous CAUSAL W2031 0
p.Leu500TrpfsX59	c.1497delA	10	499	Sm3,CH		Small rearrangement	Fr.	Stop at 558	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1134 03-TR15-F01B-970 Male Heterozygous CAUSAL W77 9 1142 03-TR15-M01G-984 Female Heterozygous CAUSAL W77 7 1155 03-TR15-R15L-934 Male Heterozygous CAUSAL W77 3 1156 03-TR15-B05R-957 Male Heterozygous CAUSAL W77 3
p.Asp501_Leu504delinsVal	c.1502_1510del	10	501	Sm3,CH		Small rearrangement	InF	In frame del	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1909 03-PE19-D05N-939 Female Heterozygous LIKELY CAUSAL W1081 0 1910 03-PE19-P18I-987 Female Heterozygous LIKELY CAUSAL W1081 0 1908 03-PE19-J15H-975 Male Heterozygous LIKELY CAUSAL W1081 0
p.Gly509ValfsX50	c.1525delG	10	509	Sm3,CH		Small rearrangement	Fr.	Stop at 558	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1102 03-RE04-M09C-944 Female Heterozygous CAUSAL W1048 0
p.Arg516GlufsX14	c.1539_1540delAC	10	513	Sm3,CH		Small rearrangement	Fr.	Stop at 529	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1891 04-BO14-V01L-967 Female Heterozygous CAUSAL 0 1478 01-GI02-J05A-943 Male Heterozygous CAUSAL 0
p.Arg516GlyfsX43	c.1546delC	10	516	Sm3,CH		Small rearrangement	Fr.	Stop at 558	20
UMD_id Sample ID Gender Mutation status Variation class Family ID References 186 04-BA21-D01P-974 Female Heterozygous CAUSAL W2085 2 188 04-BR21-S20E-973 Female Heterozygous CAUSAL W13 2 190 04-CH01-F12O-959 Female Heterozygous CAUSAL 2 194 04-LE02-A12E-991 Male Heterozygous CAUSAL 2 199 04-MA18-M05L-993 Female Heterozygous CAUSAL W89 2 200 04-MA18-A12I-993 Female Heterozygous CAUSAL W89 2 978 03-FR05-M09C-984 Female Heterozygous CAUSAL W13 31 1073 03-MA18-M05L-993 Female Heterozygous CAUSAL W89 21 1082 03-FR05-C12A-962 Male Heterozygous CAUSAL W13 21 1083 03-FR05-C08R-975 Female Heterozygous CAUSAL W13 21 1135 03-MA18-C15R-966 Female Heterozygous CAUSAL W89 21 1141 03-GO13-J05A-927 Male Heterozygous CAUSAL W13 3 1172 03-FR05-C05C-934 Female Heterozygous CAUSAL W13 21 1173 03-LA12-M09R-947 Female Heterozygous CAUSAL W13 31 1206 03-CA12-G05O-943 Male Heterozygous CAUSAL W2054 7 1220 03-CA12-J05A-969 Male Heterozygous CAUSAL W2054 21 1232 03-FO21-R15L-950 Male Heterozygous CAUSAL 21 1234 03-MU14-A14T-935 Male Heterozygous CAUSAL 21 1240 03-BA21-A18N-991 Male Heterozygous CAUSAL W2085 21 1887 04-AM16-S20E-973 Female Heterozygous CAUSAL W13 21
p.Lys517AlafsX13	c.1549_1550delAA	10	517	Sm3,CH		Small rearrangement	Fr.	Stop at 529	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 970 03-MA18-J15E-949 Male Heterozygous CAUSAL W1101 0 1818 02-LA21-G08I-950 Female Heterozygous CAUSAL W2055 0 1819 02-LA21-J05R-973 Male Heterozygous CAUSAL W2055 0
p.Arg527GlufsX32	c.1579delC	10	527	Sm3,CH		Small rearrangement	Fr.	Stop at 558	11
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1012 03-PO09-M01R-979 Female Heterozygous CAUSAL W181 0 987 03-HA19-M05L-989 Female Heterozygous CAUSAL W181 0 1010 03-HA19-C12A-950 Male Heterozygous CAUSAL W181 0 1011 03-GA02-S15P-988 Female Heterozygous CAUSAL W181 0 1044 03-GA02-M01R-953 Female Heterozygous CAUSAL W181 0 1045 03-PO09-R05N-955 Female Heterozygous CAUSAL W181 0 1046 03-PO09-E13I-983 Female Heterozygous CAUSAL W181 0 1059 03-MO14-J05A-934 Male Heterozygous CAUSAL W182 0 1060 03-MO14-O12I-962 Male Heterozygous CAUSAL W182 0 1090 03-HA19-M09C-951 Male Heterozygous CAUSAL W181 0 1247 03-GA02-S05B-983 Male Heterozygous CAUSAL W181 0
p.Gly531ValfsX28	c.1590delA	10	530	Sm3,CH		Small rearrangement	Fr.	Stop at 558	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 204 04-BR01-R01P-963 Male Heterozygous CAUSAL W200 19 205 04-GI06-J15C-948 Female Heterozygous CAUSAL 19 1092 03-BR01-R01P-963 Male Heterozygous CAUSAL W200 9
p.Ala535ThrfsX12	c.1603_1631del	10	535	Sm3,CH		Small rearrangement	Fr.	Stop at 546	7
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1377 01-GE22-P01T-968 Male Heterozygous CAUSAL W167 0 1378 01-CO18-M09C-000 Female Heterozygous CAUSAL W167 0 1379 01-GE22-C05D-968 Male Heterozygous CAUSAL W167 0 1380 01-CO18-T08B-998 Male Heterozygous CAUSAL W167 0 1381 01-CO18-T15M-000 Male Heterozygous CAUSAL W167 0 1382 01-CO18-A12A-967 Male Heterozygous CAUSAL W167 0 1383 01-GE22-D15R-970 Female Heterozygous CAUSAL W167 0
p.Thr541GlnfsX18	c.1620delC	10	540	Sm3,CH		Small rearrangement	Fr.	Stop at 558	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 983 03-CA19-I22A-977 Male Heterozygous CAUSAL 0
p.Phe553SerfsX6	c.1658delT	10	553	Sm3,CH		Small rearrangement	Fr.	Stop at 558	16
UMD_id Sample ID Gender Mutation status Variation class Family ID References 215 04-DE19-D09D-962 Male Heterozygous CAUSAL W50 7 216 04-DE19-C01T-955 Female Heterozygous CAUSAL W50 7 1085 03-DE19-D05N-963 Male Heterozygous CAUSAL W50 7 1124 03-DE19-A14D-927 Female Heterozygous CAUSAL W50 7 1127 03-DE19-C01T-955 Female Heterozygous CAUSAL W50 3 1287 01-AG01-N01T-960 Female Heterozygous CAUSAL 14 1348 01-LE10-H21G-006 Male Heterozygous CAUSAL W50 33 1349 01-LE10-A07A-004 Female Heterozygous CAUSAL W50 33 1350 01-LE10-A21R-985 Female Heterozygous CAUSAL W50 33 1351 01-VA14-M01T-002 Male Heterozygous CAUSAL W50 33 1352 01-VA14-F18E-000 Male Heterozygous CAUSAL W50 33 1353 01-DE19-S20E-972 Male Heterozygous CAUSAL W50 33 1354 01-DE19-F18E-973 Male Heterozygous CAUSAL W50 33 1355 01-DE19-S05B-978 Male Heterozygous CAUSAL W50 33 1356 03-DE19-A21R-998 Female Heterozygous CAUSAL W50 33 1357 01-DE19-C15R-000 Female Heterozygous CAUSAL W50 33
p.Ser555ValfsX4	c.1662delG	10	554	Sm3,CH		Small rearrangement	Fr.	Stop at 558	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1393 01-HO21-F18A-958 Female Heterozygous CAUSAL 0
p.Met558X	c.1672delA	10	558	Sm,ASK,CH		Small rearrangement	Fr.	Stop at 558	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1080 03-GA18-S25L-984 Male Heterozygous CAUSAL W97 9 1081 03-GA18-P09E-989 Male Heterozygous CAUSAL W97 9 1104 03-MI07-S21Z-961 Female Heterozygous CAUSAL W97 9
p.Leu565ArgfsX23	c.1694delT	10	565	Sm,ASK,CH		Small rearrangement	Fr.	Stop at 587	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1603 02-PE20-T08O-990 Male Heterozygous CAUSAL W2032 0