The UMD-MEN1 mutations database
Variations with a biological significance = likely causal

    Request ID: 121537586694

cDNA Nomenclature	exon	mRNA nomenclature	Protein nomenclature	Functional Domain	Biological significance	Variation class	Variation type	Validation by	Validation date	# records
c.38T>G	2		p.Leu13Arg	Ju, NM, RP	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	00/00/00	4
UMD_id Sample ID Gender Biological significance Variation class Family ID References 256 03-BL15-S01N-972 Female 4- Likely Causal LIKELY CAUSAL W1040 0 380 03-CO18-J05S-988 Female 4- Likely Causal LIKELY CAUSAL W2002 0 393 03-CO18-M01R-964 Male 4- Likely Causal LIKELY CAUSAL W2002 0 1366 01-ET09-A14N-945 Female 4- Likely Causal LIKELY CAUSAL 0
c.65T>C	2		p.Leu22Pro	Ju, NM, RP	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	00/00/00	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 2 04-CH01-C08R-970 Male 4- Likely Causal LIKELY CAUSAL 0
c.65T>G	2		p.Leu22Arg	Ju, NM, RP	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1 04-AU07-F01N-979 Female 4- Likely Causal LIKELY CAUSAL 2
c.76G>A	2		p.Glu26Lys	Ju, NM, RP	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 5 04-DA25-M09C-947 Male 4- Likely Causal LIKELY CAUSAL W1074 4
c.108_122del	2		p.Leu37_Leu41del	Ju, NM, RP	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	6/11/20	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1927 02-VA18-V09-990 Male 4- Likely Causal LIKELY CAUSAL W2018-11 0
c.113C>G	2		p.Ser38Cys	Ju, NM, RP	4- Likely Causal	4 - Likely Causal	UV	TENGEN	19/11/21	3
UMD_id Sample ID Gender Biological significance Variation class Family ID References 331 03-NA26-K01T-988 Female 4- Likely Causal UV W225 0 418 03-NA26-A14D-957 Male 4- Likely Causal UV W225 0 1953 05-JU19-C05L-982 Female 4- Likely Causal LIKELY CAUSAL 0
c.113C>T	2		p.Ser38Phe	Ju, NM, RP	3- Uv	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1479 01-DO21-L21C-939 Female 3- Uv LIKELY CAUSAL 0
c.124G>T	2		p.Gly42Cys	Sm, NM	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 10 04-SI12-B18I-996 Male 4- Likely Causal LIKELY CAUSAL W1103 0 240 03-SI12-A18M-968 Female 4- Likely Causal LIKELY CAUSAL W1103 0
c.125G>T	2		p.Gly42Val	Sm, NM	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 427 03-AV09-S05V-986 Female 4- Likely Causal LIKELY CAUSAL 0
c.133G>A	2		p.Glu45Lys	Sm, NM	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Variation class Family ID References 11 04-LA14-T08I-966 Male 4- Likely Causal LIKELY CAUSAL W1085 36 1659 02-LA14-J05A-954 Male 4- Likely Causal LIKELY CAUSAL W1085 36 1660 02-LA14-K05V-991 Male 4- Likely Causal LIKELY CAUSAL W1085 36
c.143T>C	2		p.Leu48Pro	Sm, NM	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	3
UMD_id Sample ID Gender Biological significance Variation class Family ID References 244 03-PE19-J15H-975 Male 4- Likely Causal LIKELY CAUSAL W1081 0 245 03-PE19-D05N-939 Female 4- Likely Causal LIKELY CAUSAL W1081 0 246 03-PE19-P18I-987 Female 4- Likely Causal LIKELY CAUSAL W1081 0
c.196_201dup	2		p.Pro65_Ser66insSerPro	Sm, NM	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	3
UMD_id Sample ID Gender Biological significance Variation class Family ID References 254 03-MA12-Y01N-973 Male 4- Likely Causal LIKELY CAUSAL W256 0 255 03-MA12-J05A-946 Male 4- Likely Causal LIKELY CAUSAL W256 0 378 03-MA12-S23A-007 Female 4- Likely Causal LIKELY CAUSAL W256 0
c.317A>G	2		p.Tyr106Cys	Sm, NM	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	19/11/21	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1955 01-VA12-V05-969 Female 4- Likely Causal LIKELY CAUSAL W2021-7 0
c.415C>A	2		p.His139Asn	Ju, Sm, NM	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1564 02-PE19-D15M-957 Female 4- Likely Causal LIKELY CAUSAL 0
c.428T>C	2		p.Leu143Pro	Ju, Sm, NM	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 257 03-MA21-C12A-951 Female 4- Likely Causal LIKELY CAUSAL W1039 0
c.431T>G	2		p.Phe144Cys	Ju, Sm, NM	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 325 03-NU14-J15S-968 Male 4- Likely Causal LIKELY CAUSAL W154 3 326 03-MA18-A14N-936 Female 4- Likely Causal LIKELY CAUSAL W154 3
c.434G>T	2		p.Ser145Ile	Ju, Sm,NM,HD	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1706 02-KA18-M01R-969 Female 4- Likely Causal LIKELY CAUSAL 0
c.435C>A	2		p.Ser145Arg	Ju, Sm,NM,HD	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 297 03-CH01-J05A-961 Male 4- Likely Causal LIKELY CAUSAL W1056 0
c.435C>G	2		p.Ser145Arg	Ju, Sm,NM,HD	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	4
UMD_id Sample ID Gender Biological significance Variation class Family ID References 388 03-DE02-A14T-992 Male 4- Likely Causal LIKELY CAUSAL W2007 20 390 03-DE02-A12I-994 Female 4- Likely Causal LIKELY CAUSAL W2007 20 1827 02-PI18-C01R-982 Female 4- Likely Causal LIKELY CAUSAL W2025 20 1828 02-PI18-M01R-955 Female 4- Likely Causal LIKELY CAUSAL W2025 20
c.455T>G	3		p.Leu152Trp	Ju, Sm,NM,HD	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 450 03-ME20-J15S-957 Female 4- Likely Causal LIKELY CAUSAL W1086 22
c.466G>T	3		p.Gly156Cys	Ju,Sm,NMH,HD,NM	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	5
UMD_id Sample ID Gender Biological significance Variation class Family ID References 40 04-CH01-M21R-954 Female 4- Likely Causal LIKELY CAUSAL 39 468 03-PA20-S20E-968 Female 4- Likely Causal LIKELY CAUSAL W180 39 487 03-LA21-F12A-973 Male 4- Likely Causal LIKELY CAUSAL W180 39 489 03-DA22-A12E-978 Female 4- Likely Causal LIKELY CAUSAL W122 39 518 03-DE03-M21R-984 Female 4- Likely Causal LIKELY CAUSAL 39
c.467G>T	3		p.Gly156Val	Ju,Sm,NMH,HD,NM	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 451 03-GA09-I19A-964 Male 4- Likely Causal LIKELY CAUSAL W1075 0 452 03-GA09-A14T-988 Male 4- Likely Causal LIKELY CAUSAL W1075 0
c.484G>T	3		p.Val162Phe	Ju,Sm,NMH,HD,NM	4- Likely Causal	4 - Likely Causal	UV	TENGEN	10/03/23	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 473 03-MO09-F18A-957 Male 4- Likely Causal UV W123 9 1984 04-ME18-A14-987 Female 4- Likely Causal LIKELY CAUSAL 0
c.491C>A	3		p.Ala164Asp	Ju,Sm,NMH,HD,NM	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 517 03-DE01-V05R-987 Female 4- Likely Causal LIKELY CAUSAL 9
c.491C>T	3		p.Ala164Val	Ju,Sm,NMH,HD,NM	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1667 02-MA14-B05N-951 Male 4- Likely Causal LIKELY CAUSAL 0
c.493T>C	3		p.Cys165Arg	Ju,Sm,NMH,HD,NM	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	3
UMD_id Sample ID Gender Biological significance Variation class Family ID References 41 04-FL05-G09L-963 Male 4- Likely Causal LIKELY CAUSAL W101 3 480 03-CO12-R01P-971 Male 4- Likely Causal LIKELY CAUSAL W1021 14 501 03-CO12-G21I-000 Male 4- Likely Causal LIKELY CAUSAL W1021 9
c.495C>G	3		p.Cys165Trp	Ju,Sm,NMH,HD,NM	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	00/00/00	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 42 04-OU08-N01D-975 Female 4- Likely Causal LIKELY CAUSAL 0
c.524T>C	3		p.Leu175Pro	Ju,Sm,NMH,HD,NM	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	6/11/20	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1928 01-PR01-P01-978 Female 4- Likely Causal LIKELY CAUSAL 0
c.584A>G	3		p.Glu195Gly	Ju,Sm,NMH,HD,NM	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	5
UMD_id Sample ID Gender Biological significance Variation class Family ID References 46 04-CA19-A18L-933 Female 4- Likely Causal LIKELY CAUSAL W61 44 47 04-CA19-Y22-950 Male 4- Likely Causal LIKELY CAUSAL W61 44 488 03-CA19-J01C-964 Male 4- Likely Causal LIKELY CAUSAL W61 44 498 03-CA19-G21Y-938 Male 4- Likely Causal LIKELY CAUSAL W61 44 506 03-MA07-T08I-959 Male 4- Likely Causal LIKELY CAUSAL W61 44
c.600C>T	3		p.Gly200Gly	Ju,Sm,NMH,HD,NM	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1898 03-ISR-2-1-970 Unknown 4- Likely Causal LIKELY CAUSAL 0
c.652C>T	3		p.Arg218Trp	Ju,Sm,NMH,HD,NM	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	9/06/22	4
UMD_id Sample ID Gender Biological significance Variation class Family ID References 73 04-GI18-V09O-983 Female 4- Likely Causal LIKELY CAUSAL W2067 0 1940 04-GI18-V01-983 Female 4- Likely Causal UV 0 1971 04-GI18-V09-983 Female 4- Likely Causal LIKELY CAUSAL 0 1874 04-PA25-C12E-010 Male 4- Likely Causal LIKELY CAUSAL W2067 0
c.IVS3-2A>G (c.655-2A>G)	4			Ju,Sm,NM,NMH,FA,HD	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 75 04-BO21-Y14E-999 Female 4- Likely Causal LIKELY CAUSAL W2097 0 76 04-BO21-A02D-977 Male 4- Likely Causal LIKELY CAUSAL W2097 0
c.IVS3-6C>T (c.655-6C>T)	4			Ju,Sm,NM,NMH,FA,HD	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	22
UMD_id Sample ID Gender Biological significance Variation class Family ID References 77 04-CR05-M01R-974 Female 4- Likely Causal LIKELY CAUSAL 12 78 04-DI15-N01B-976 Male 4- Likely Causal LIKELY CAUSAL 12 85 04-MO25-O12G-990 Female 4- Likely Causal LIKELY CAUSAL 12 1852 01-PA20-A14N-000 Female 4- Likely Causal LIKELY CAUSAL 12 529 03-LU26-M21A-964 Female 4- Likely Causal LIKELY CAUSAL W1100 12 530 03-LA25-T01N-961 Female 4- Likely Causal LIKELY CAUSAL W1137 12 533 03-AL09-A04E-000 Female 4- Likely Causal LIKELY CAUSAL 12 534 03-MA18-N09C-958 Female 4- Likely Causal LIKELY CAUSAL W150 12 536 03-CA18-L09S-951 Female 4- Likely Causal LIKELY CAUSAL W150 12 537 03-CA18-T08E-933 Female 4- Likely Causal LIKELY CAUSAL W150 12 545 03-JA12-F05L-963 Male 4- Likely Causal LIKELY CAUSAL W2009 12 546 03-JA12-C08L-992 Female 4- Likely Causal LIKELY CAUSAL W2009 12 547 03-JA12-O12I-990 Female 4- Likely Causal LIKELY CAUSAL W2009 3 549 03-JU19-C12A-947 Female 4- Likely Causal LIKELY CAUSAL 12 555 03-DJ05-N01D-962 Female 4- Likely Causal LIKELY CAUSAL 3 556 03-LU26-C12A-990 Female 4- Likely Causal LIKELY CAUSAL W1100 3 1607 02-FI19-E12I-980 Female 4- Likely Causal LIKELY CAUSAL 3 1907 02-GE04-J15S-954 Male 4- Likely Causal LIKELY CAUSAL W2036 7 1670 02-LA23-D05D-958 Female 4- Likely Causal LIKELY CAUSAL 12 1679 02-LO21-G08I-988 Female 4- Likely Causal LIKELY CAUSAL 3 1791 02-CU22-J15S-947 Female 4- Likely Causal LIKELY CAUSAL 3 1823 02-MA14-F18A-955 Female 4- Likely Causal LIKELY CAUSAL 3
c.658T>C	4		p.Trp220Arg	Ju,Sm,NM,NMH,FA,HD	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	19/11/21	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1958 03-BO21-S01-972 Female 4- Likely Causal LIKELY CAUSAL 0
c.825G>C	5-6		p.Arg275Ser	Sm,NM,NMH,FA,HD	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	5
UMD_id Sample ID Gender Biological significance Variation class Family ID References 101 04-GA18-C12A-956 Male 4- Likely Causal LIKELY CAUSAL W2095 0 102 04-GA18-L01U-977 Male 4- Likely Causal LIKELY CAUSAL W2095 0 103 04-GA18-C05L-981 Female 4- Likely Causal LIKELY CAUSAL W2095 0 104 04-RE02-G05R-959 Male 4- Likely Causal LIKELY CAUSAL W2095 0 105 04-RE02-D05N-964 Male 4- Likely Causal LIKELY CAUSAL W2095 0
c.842G>A	6		p.Gly281Glu	Pem,NM,NMH,FA,HD	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1646 02-GE18-G12A-994 Female 4- Likely Causal LIKELY CAUSAL 1103 13
c.912G>A	6		p.Lys304Lys	Pem,NM,RP,NMH,FA,HD	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	9/04/21	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1946 04-VI05-J05-948 Male 4- Likely Causal LIKELY CAUSAL 0
c.914G>A	7		p.Gly305Asp	NF,Pem,NM,RP,NMH,FA,HD	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	00/00/00	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 768 03-MA18-M01R-968 Male 4- Likely Causal LIKELY CAUSAL W2018 26 770 03-MA18-J15S-945 Male 4- Likely Causal LIKELY CAUSAL W2018 26
c.931A>C	7		p.Thr311Pro	NF,NM,RP,FA,HD	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	5
UMD_id Sample ID Gender Biological significance Variation class Family ID References 731 03-AU18-A21R-983 Male 4- Likely Causal LIKELY CAUSAL W109 3 732 03-GU09-J21L-978 Male 4- Likely Causal LIKELY CAUSAL W109 3 733 03-PI03-N09C-956 Female 4- Likely Causal LIKELY CAUSAL W109 3 745 03-AU18-B05R-948 Male 4- Likely Causal LIKELY CAUSAL W109 3 1586 02-MA18-M01D-926 Female 4- Likely Causal LIKELY CAUSAL 3
c.949C>T	7		p.His317Tyr	NF,NM,RP,FA,HD	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	9
UMD_id Sample ID Gender Biological significance Variation class Family ID References 119 04-GU20-N15E-992 Female 4- Likely Causal LIKELY CAUSAL W2015 14 120 04-GU20-C08R-958 Male 4- Likely Causal LIKELY CAUSAL W2015 14 717 03-SE12-J05A-959 Male 4- Likely Causal LIKELY CAUSAL W1022 9 719 03-SC08-A12B-933 Male 4- Likely Causal LIKELY CAUSAL W156 9 720 03-GA02-M01R-987 Female 4- Likely Causal LIKELY CAUSAL W156 9 721 03-GA02-A14A-985 Female 4- Likely Causal LIKELY CAUSAL W156 9 722 03-GA02-B18I-960 Female 4- Likely Causal LIKELY CAUSAL W156 9 759 03-FU08-C01M-005 Female 4- Likely Causal LIKELY CAUSAL W2013 9 762 03-FU08-L21C-968 Male 4- Likely Causal LIKELY CAUSAL W2013 9
c.950A>G	7		p.His317Arg	NF,NM,RP,FA,HD	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	7
UMD_id Sample ID Gender Biological significance Variation class Family ID References 724 03-PA20-P01T-963 Female 4- Likely Causal LIKELY CAUSAL W127 7 728 03-SA14-G21I-978 Male 4- Likely Causal LIKELY CAUSAL W127 7 729 03-SA14-A12A-952 Male 4- Likely Causal LIKELY CAUSAL W127 7 730 03-RU06-A14N-958 Female 4- Likely Causal LIKELY CAUSAL W127 7 737 03-RU06-D25L-992 Male 4- Likely Causal LIKELY CAUSAL W127 9 738 03-GE18-T08I-966 Male 4- Likely Causal LIKELY CAUSAL W127 9 769 03-GE18-P01T-963 Female 4- Likely Causal LIKELY CAUSAL W127 12
c.959C>A	7		p.Pro320His	NF,NM,RP,FA,HD	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 122 04-RA14-P08I-941 Male 4- Likely Causal LIKELY CAUSAL 0
c.974C>T	7		p.Ala325Val	Ju,NF,Pem,NM,RP,FA,HD	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	10/03/23	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1981 01-RA07-N09-984 Male 4- Likely Causal LIKELY CAUSAL W2022-13 0
c.1004_1015del	7		p.Arg335_Leu338del	Ju,NF,Pem,NM,RP,FA,HD	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/01/17	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1921 04-LA02-A14-988 Male 4- Likely Causal LIKELY CAUSAL 0
c.1010C>A	7		p.Ala337Asp	Ju,NF,Pem,NM,RP,FA,HD	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	7
UMD_id Sample ID Gender Biological significance Variation class Family ID References 718 03-PL01-H05L-965 Female 4- Likely Causal LIKELY CAUSAL W29 7 725 03-BE18-C15R-959 Female 4- Likely Causal LIKELY CAUSAL W29 7 742 03-BE18-S05B-988 Male 4- Likely Causal LIKELY CAUSAL W29 7 756 03-RO12-A14N-942 Female 4- Likely Causal LIKELY CAUSAL W29 21 1557 02-BE18-M09C-935 Female 4- Likely Causal LIKELY CAUSAL W29 21 1558 02-RO25-S05B-988 Male 4- Likely Causal LIKELY CAUSAL W29 21 1560 02-PL01-N09C-994 Male 4- Likely Causal LIKELY CAUSAL W29 21
c.1021T>C	7		p.Trp341Arg	Ju,NF,Pem,NM,RP,FA,HD	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 743 03-TE12-D05L-972 Female 4- Likely Causal LIKELY CAUSAL W94 9 751 03-TE12-D05N-949 Male 4- Likely Causal LIKELY CAUSAL W94 7
c.1032_1037dup	7		p.Thr344delinsThrAlaThr	Ju,NF,Pem,NM,RP,FA,HD	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/01/17	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1923 04-VA14-E13-965 Female 4- Likely Causal LIKELY CAUSAL 0 1880 04-VA14-E13I-965 Female 4- Likely Causal LIKELY CAUSAL 0
c.IVS7+1G>T (c.1049+1G>T)	7-8			Ju,NF,Pem,NM,RP,FA,HD	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1471 01-WA12-C08R-972 Female 4- Likely Causal LIKELY CAUSAL 0
c.IVS7+3G>C (c.1049+3G>C)	7-8			Ju,NF,Pem,NM,RP,FA,HD	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	4
UMD_id Sample ID Gender Biological significance Variation class Family ID References 127 04-US05-M01R-960 Female 4- Likely Causal LIKELY CAUSAL W2093 0 783 03-RI03-D05N-934 Female 4- Likely Causal LIKELY CAUSAL W56 0 1567 02-DE12-M09C-956 Female 4- Likely Causal LIKELY CAUSAL W2093 0 1569 02-DE12-D09A-988 Female 4- Likely Causal LIKELY CAUSAL W2093 0
c.IVS7+4A>T (c.1049+4A>T)	7-8			Ju,NF,Pem,NM,RP,FA,HD	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 778 03-LA13-M01U-978 Female 4- Likely Causal LIKELY CAUSAL W219 0 780 03-JE26-H05R-949 Male 4- Likely Causal LIKELY CAUSAL W219 0
c.IVS7+5G>A (c.1049+5G>A)	7-8			Ju,NF,Pem,NM,RP,FA,HD	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	3
UMD_id Sample ID Gender Biological significance Variation class Family ID References 128 04-PO21-M01R-960 Female 4- Likely Causal LIKELY CAUSAL W2027 12 129 04-ZE18-B18I-969 Female 4- Likely Causal LIKELY CAUSAL 12 1836 02-RI03-R15B-951 Male 4- Likely Causal LIKELY CAUSAL W2027 12
c.IVS7-1G>C (c.1050-1G>C)	7-8			Ju,NF,Pem,NM,RP,FA,HD	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	4
UMD_id Sample ID Gender Biological significance Variation class Family ID References 130 04-BE14-M25R-970 Female 4- Likely Causal LIKELY CAUSAL W2068 0 131 04-BE14-K01R-972 Female 4- Likely Causal LIKELY CAUSAL W2068 0 132 04-CA26-M01R-994 Female 4- Likely Causal LIKELY CAUSAL W2068 0 1882 04-GA21-Z15E-001 4- Likely Causal LIKELY CAUSAL W2068 0
c.IVS7-2A>C (c.1050-2A>C)	7-8			Ju,NF,Pem,NM,RP,FA,HD	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1613 02-CE18-C01R-994 Female 4- Likely Causal LIKELY CAUSAL 0
c.1069G>C	8		p.Asp357His	Ju,NF,Pem,NM,RP,FA,HD	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	4
UMD_id Sample ID Gender Biological significance Variation class Family ID References 795 03-LA22-A04R-984 Male 4- Likely Causal LIKELY CAUSAL W144 9 796 03-LA22-A21R-979 Female 4- Likely Causal LIKELY CAUSAL W144 9 797 03-LA22-J15E-952 Male 4- Likely Causal LIKELY CAUSAL W144 9 1409 01-LI05-F01B-961 Female 4- Likely Causal LIKELY CAUSAL 9
c.1075_1077delGAG	8		p.Glu359del	Ju,NF,Pem,NM,RP,FA,HD	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	3
UMD_id Sample ID Gender Biological significance Variation class Family ID References 134 04-HU19-G09L-962 Male 4- Likely Causal LIKELY CAUSAL W1092 6 135 04-EN15-N09C-950 Female 4- Likely Causal LIKELY CAUSAL W1092 6 811 03-HU19-S25L-962 Female 4- Likely Causal LIKELY CAUSAL W1092 6
c.1080ins12	8		p.Ile360delinsIleThrLysAsnSer	Ju,NF,Pem,NM,RP,FA,HD	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 137 04-ME18-N09C-975 Male 4- Likely Causal LIKELY CAUSAL 0
c.1103C>A	8		p.Ala368Asp	Ju,NF,Pem,NM,RP,FA,HD	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	6
UMD_id Sample ID Gender Biological significance Variation class Family ID References 792 03-IV01-J05A-950 Male 4- Likely Causal LIKELY CAUSAL W147 7 794 03-FA02-A12E-992 Male 4- Likely Causal LIKELY CAUSAL W147 7 799 03-FA02-J05A-949 Male 4- Likely Causal LIKELY CAUSAL W147 7 802 03-IV01-A14N-926 Female 4- Likely Causal LIKELY CAUSAL W147 7 808 03-IV01-M01Y-988 Female 4- Likely Causal LIKELY CAUSAL W147 7 809 03-IV01-L01U-985 Female 4- Likely Causal LIKELY CAUSAL W147 7
c.IVS8-53Del36 (c.1186-53Del36)	9				4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	6/11/20	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1933 01-PO09-D01-967 Male 4- Likely Causal LIKELY CAUSAL W2020-5 0
c.1231G>C	9		p.Ala411Pro	Ju,Pem,NM,RP,HD,CH	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 822 03-FO12-M01R-961 Female 4- Likely Causal LIKELY CAUSAL W1093 29 1685 02-BO21-B12O-983 Female 4- Likely Causal LIKELY CAUSAL 29
c.1252_1269delinsAAATGT	9				4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	10/03/23	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1986 04-RA14-E13-978 Female 4- Likely Causal LIKELY CAUSAL 0
c.1259T>A	9		p.Ile420Asn	Ju,Pem,NM,RP,HD,CH	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 869 03-PA12-F18E-959 Female 4- Likely Causal LIKELY CAUSAL W1025 0
c.1259T>G	9		p.Ile420Ser	Ju,Pem,NM,RP,HD,CH	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 930 03-PU12-L01U-961 Female 4- Likely Causal LIKELY CAUSAL 0
c.1269G>C	9		p.Trp423Cys	Ju,Pem,NM,RP,HD,CH	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 934 03-AU02-F12O-968 Female 4- Likely Causal LIKELY CAUSAL W1113 0
c.1269G>T	9		p.Trp423Cys	Ju,Pem,NM,RP,HD,CH	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 929 03-PE18-M15N-947 Female 4- Likely Causal LIKELY CAUSAL 0
c.1279A>C	9		p.Ser427Arg	Ju,Pem,NM,RP,HD,CH	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	3
UMD_id Sample ID Gender Biological significance Variation class Family ID References 908 03-TA04-E19T-978 Female 4- Likely Causal LIKELY CAUSAL W2029 0 913 03-LE10-Y22E-937 Female 4- Likely Causal LIKELY CAUSAL W2029 0 923 03-TA04-F05R-939 Female 4- Likely Causal LIKELY CAUSAL W2029 0
c.1306T>A	9		p.Trp436Arg	Pem,NM,RP,HD,CH	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	00/00/00	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 914 03-BO04-S25L-960 Female 4- Likely Causal LIKELY CAUSAL 0 935 03-LA16-N09C-980 Male 4- Likely Causal LIKELY CAUSAL W1099 0
c.1328C>A	9		p.Ser443Tyr	Pem,NM,RP,HD,CH	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 834 03-SC08-L09S-966 Female 4- Likely Causal LIKELY CAUSAL W137 0 876 03-PA09-L09L-935 Female 4- Likely Causal LIKELY CAUSAL W137 0
c.1341T>G	9		p.Phe447Leu	Pem,NM,RP,HD,CH	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	3
UMD_id Sample ID Gender Biological significance Variation class Family ID References 917 03-BL01-E13I-979 Female 4- Likely Causal LIKELY CAUSAL W2030 0 919 03-BL01-S25L-957 Female 4- Likely Causal LIKELY CAUSAL W2030 0 920 03-KR05-F01B-968 Male 4- Likely Causal LIKELY CAUSAL W2030 0
c.IVS9+4DelAG (c.1350+4DelAG)	9			Pem,NM,HD,CH	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	8
UMD_id Sample ID Gender Biological significance Variation class Family ID References 939 03-RO07-C08A-995 Female 4- Likely Causal LIKELY CAUSAL W41 7 940 03-RO07-S01N-972 Female 4- Likely Causal LIKELY CAUSAL W41 7 941 03-GE18-L15U-935 Female 4- Likely Causal LIKELY CAUSAL W41 7 942 03-GE18-D15M-955 Male 4- Likely Causal LIKELY CAUSAL W41 7 945 03-GE18-S21Z-981 Female 4- Likely Causal LIKELY CAUSAL W41 7 946 03-GE18-O12I-978 Male 4- Likely Causal LIKELY CAUSAL W41 7 947 03-GE18-A14G-985 Female 4- Likely Causal LIKELY CAUSAL W41 7 950 03-GE18-R05N-958 Male 4- Likely Causal LIKELY CAUSAL W41 7
c.IVS9-39Del36 (c.1351-39Del36)	10				4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 936 03-DI01-M01R-972 Female 4- Likely Causal LIKELY CAUSAL W75 0 949 03-NE09-M01R-953 Female 4- Likely Causal LIKELY CAUSAL W75 0
c.1382_1399del	10		p.Glu461_Glu466del	Pem,NM,CH	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 967 03-NE18-P01T-953 Male 4- Likely Causal LIKELY CAUSAL W242 0 1139 03-CU22-I19A-963 Female 4- Likely Causal LIKELY CAUSAL W264 0
c.1457A>G	10		p.Glu486Gly	Sm,NM,CH	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	10/03/23	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1982 01-HE14-C01R-005 Female 4- Likely Causal LIKELY CAUSAL 0
c.1502_1510del	10		p.Asp501_Leu504delinsVal	Sm3,CH	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	3
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1909 03-PE19-D05N-939 Female 4- Likely Causal LIKELY CAUSAL W1081 0 1910 03-PE19-P18I-987 Female 4- Likely Causal LIKELY CAUSAL W1081 0 1908 03-PE19-J15H-975 Male 4- Likely Causal LIKELY CAUSAL W1081 0
c.1652T>C	10		p.Leu551Pro	Sm3,CH	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1606 02-FL15-A14N-935 Female 4- Likely Causal LIKELY CAUSAL W2051 0
c.1664G>A	10		p.Ser555Asn	Sm3,CH	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	4
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1030 03-RI16-S20E-978 Female 4- Likely Causal LIKELY CAUSAL W2 9 1031 03-RI16-V01L-969 Female 4- Likely Causal LIKELY CAUSAL W2 9 1032 03-RI16-D09D-968 Male 4- Likely Causal LIKELY CAUSAL W2 9 1165 03-RI16-F18A-937 Male 4- Likely Causal LIKELY CAUSAL W2 9
c.1664G>C	10		p.Ser555Thr	Sm3,CH	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1047 03-JA03-A14T-947 Male 4- Likely Causal LIKELY CAUSAL W1031 0
c.1665T>G	10		p.Ser555Arg	Sm3,CH	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 966 03-PO09-A14N-960 Female 4- Likely Causal LIKELY CAUSAL W148 3 1114 03-TO06-A14D-939 Female 4- Likely Causal LIKELY CAUSAL W148 3
c.1691_1694delinsCCACCAAG...	10				4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	9/04/21	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1957 04-JE01-Y15-004 Male 4- Likely Causal LIKELY CAUSAL 0
c.1724T>G	10		p.Ile575Ser	Sm,ASK,CH	4- Likely Causal	4 - Likely Causal	LIKELY CAUSAL	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1890 04-EQ21-C08R-957 Female 4- Likely Causal LIKELY CAUSAL 0