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

    Request ID: 121537585851

cDNA Nomenclature	exon	mRNA nomenclature	Protein nomenclature	Functional Domain	Biological significance	Variation class	Variation type	Validation by	Validation date	# records
c.IVS1-19C>G (c.1-19C>G)	2		p.Met1?	Ju, NM, RP	3- Uv	3 - UV	UV	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1585 02-JO19-W02R-996 Male 3- Uv UV 0
c.IVS1-56G>T (c.1-56G>T)	2		p.Met1?		3- Uv	3 - UV	UV	TENGEN	10/03/23	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1978 01-DE-C01R-977 Female 3- Uv UV W2022-7 0
c.25A>G	2		p.Thr9Ala	Ju, NM, RP	3- Uv	3 - UV	UV	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1864 04-RO21-A12A-965 Male 3- Uv UV 0
c.40C>T	2		p.Arg14Cys	Ju, NM, RP	3- Uv	3 - UV	UV	TENGEN	10/03/23	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1983 04-PI03-C05-981 Female 3- Uv UV 0
c.61C>T	2		p.Arg21Cys	Ju, NM, RP	3- Uv	3 - UV	UV	TENGEN	19/11/21	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1952 04-PO07-M01R-969 Female 3- Uv UV 0
c.137A>G	2		p.His46Arg	Sm, NM	3- Uv	3 - UV	UV	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1863 04-LA06-V05R-979 Female 3- Uv UV 0
c.252_254dup	2		p.Ser84delinsSerIle	Sm, NM	3- Uv	3 - UV	UV	TENGEN	19/11/21	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1954 04-BA18-M01R-975 Female 3- Uv UV 0
c.259G>A	2		p.Ala87Thr	Sm, NM	3- Uv	3 - UV	UV	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1703 02-DA22-G01E-978 Female 3- Uv UV 0
c.266_286del	2		p.Leu89_Ala95del	Sm, NM	3- Uv	3 - UV	UV	TENGEN	1/05/18	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1771 02-AL02-P08I-951 Male 3- Uv UV W2001 0 1795 02-DEO-A12Z-967 Female 3- Uv UV W2001 0
c.327A>T	2		p.Glu109Asp	Sm, NM	3- Uv	3 - UV	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1616 02-RO07-P01S-954 Male 3- Uv UV 0
c.353T>G	2		p.Val118Gly	Sm, NM	3- Uv	3 - UV	UV	TENGEN	1/05/18	3
UMD_id Sample ID Gender Biological significance Variation class Family ID References 382 03-GR15-Y22E-966 Male 3- Uv UV W2048 0 392 03-BO09-V05R-975 Female 3- Uv UV 0 406 03-SC01-K01R-974 Female 3- Uv UV W2048 0
c.360G>T	2		p.Lys120Asn	Sm, NM	3- Uv	3 - UV	UV	TENGEN	9/06/22	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1969 01-CH01-K05-982 Male 3- Uv UV 0
c.415C>T	2		p.His139Tyr	Ju, Sm, NM	3- Uv	3 - UV	UV	TENGEN	1/05/18	4
UMD_id Sample ID Gender Biological significance Variation class Family ID References 36 04-LE22-C01R-969 Female 3- Uv UV w2052 2 37 04-MA09-C01N-975 Female 3- Uv UV w2052 2 383 03-LE22-J15R-992 Male 3- Uv UV W2052 2 384 03-LE22-V09N-004 Male 3- Uv UV W2052 2
c.IVS2+11A>G (c.445+11A>G)	2-3				3- Uv	3 - UV	UV	TENGEN	6/11/20	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1934 01-DE02-M09-961 Female 3- Uv UV 0
c.526G>C	3		p.Ala176Pro	Ju,Sm,NMH,HD,NM	3- Uv	3 - UV	UV	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1288 01-AL01-J05R-969 Male 3- Uv UV 2
c.533C>T	3		p.Ser178Phe	Ju,Sm,NMH,HD,NM	3- Uv	3 - UV	UV	TENGEN	00/00/00	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 520 03-OU22-E20I-995 Male 3- Uv UV 0
c.541C>G	3		p.His181Asp	Ju,Sm,NMH,HD,NM	3- Uv	3 - UV	UV	TENGEN	1/05/18	4
UMD_id Sample ID Gender Biological significance Variation class Family ID References 441 03-GU09-G09N-949 Female 3- Uv UV W271 0 510 03-GO21-T08O-997 Male 3- Uv UV W271 0 511 03-GO21-V09N-994 Male 3- Uv UV W271 0 522 03-GO21-K01T-970 Female 3- Uv UV W271 0
c.560G>T	3		p.Gly187Val	Ju,Sm,NMH,HD,NM	3- Uv	3 - UV	UV	TENGEN	1/05/18	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 504 03-EL11-K08A-955 Female 3- Uv UV 0 1979 01-EL11-K08-955 Female 3- Uv UV W2023-1 0
c.563C>T	3		p.Pro188Leu	Ju,Sm,NMH,HD,NM	3- Uv	3 - UV	UV	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 508 03-DU18-D26E-970 Male 3- Uv UV 0
c.590C>T	3		p.Thr197Ile	Ju,Sm,NMH,HD,NM	3- Uv	3 - UV	UV	TENGEN	9/04/21	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1937 04-CA19-L05-000 Female 3- Uv UV 0
c.597C>T	3		p.His199His	Ju,Sm,NMH,HD,NM	3- Uv	3 - UV	UV	TENGEN	1/05/18	18
UMD_id Sample ID Gender Biological significance Variation class Family ID References 49 04-DU18-G09L-948 Female 3- Uv UV W1001 0 50 04-IS19-A08M-981 Male 3- Uv UV 0 51 04-SE22-BI12A-940 Female 3- Uv UV 0 52 04-TU18-JA19-995 Male 3- Uv UV W2096 0 53 04-TU18-S20A-995 Female 3- Uv UV W2096 0 55 04-TU18-J05A-972 Male 3- Uv UV W2096 0 456 03-FR01-Y22E-945 Female 3- Uv UV W1001 0 457 03-MO14-M15N-947 Female 3- Uv UV W1001 0 458 03-DU18-G09L-948 Female 3- Uv UV W1001 0 500 03-TE18-S05B-969 Male 3- Uv UV W2008 0 507 03-BO14-V05R-962 Female 3- Uv UV W2008 0 514 03-VE12-J01C-974 Male 3- Uv UV W223 0 523 03-VE12-E18I-965 Male 3- Uv UV W223 0 524 03-VE12-D01N-964 Male 3- Uv UV W223 0 525 03-VE12-J05A-970 Male 3- Uv UV W223 0 528 03-SO15-J01C-934 Female 3- Uv UV W223 0 1599 02-DU18-A21R-977 Female 3- Uv UV W1001 0 1656 02-TE07-M01R-962 Female 3- Uv UV 0
c.629C>T	3		p.Thr210Ile	Ju,Sm,NMH,HD,NM	3- Uv	3 - UV	UV	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1876 04-PE19-J05A-933 Female 3- Uv UV 0
c.630A>G	3		p.Thr210Thr	Ju,Sm,NMH,HD,NM	3- Uv	3 - UV	UV	unvalidated	1/05/18	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1911 01-WA18-C01R-973 Female 3- Uv UV W2057 0 1912 03-WA18-N01D-945 Female 3- Uv UV W2057 0
c.640G>A	3		p.Gly214Ser	Ju,Sm,NMH,HD,NM	3- Uv	3 - UV	UV	TENGEN	9/04/21	3
UMD_id Sample ID Gender Biological significance Variation class Family ID References 72 04-GA18-V01L-971 Female 3- Uv UV 0 1850 01-BU20-S01N-971 Female 3- Uv UV 0 1939 04-GA18-V01-971 Female 3- Uv UV 0
c.IVS3+18INS c (c.654+18INS c)	3			Ju,Sm,NMH,HD,NM	3- Uv	3 - UV	UV	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 552 03-DI13-V01L-988 Female 3- Uv UV 0
c.IVS3-4Del (c.655-4Del)	4				3- Uv	3 - UV	UV	TENGEN	19/11/21	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1966 03-DU02-A21-971 Female 3- Uv UV 0
c.IVS3-5C>G (c.655-5C>G)	4			Ju,Sm,NM,NMH,FA,HD	3- Uv	3 - UV	UV	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 532 03-TR01-D01O-962 Male 3- Uv UV 0
c.IVS3-6C>A (c.655-6C>A)	4			Ju,Sm,NM,NMH,FA,HD	3- Uv	3 - UV	UV	TENGEN	1/05/18	7
UMD_id Sample ID Gender Biological significance Variation class Family ID References 79 04-DU22-E19T-976 Female 3- Uv UV W2091 13 80 04-DU22-A14D-943 Female 3- Uv UV W2091 13 81 04-FR01-Z05F-011 Male 3- Uv UV W2090 13 82 04-FR01-M01R-976 Female 3- Uv UV W2090 13 83 04-FR01-F05R-947 Female 3- Uv UV W2090 13 84 04-FR01-A14A-974 Female 3- Uv UV W2090 13 1645 02-GE18-G12A-994 Female 3- Uv UV 13
c.662T>C	4		p.Leu221Pro	Ju,Sm,NM,NMH,FA,HD	3- Uv	3 - UV	UV	TENGEN	1/05/18	5
UMD_id Sample ID Gender Biological significance Variation class Family ID References 613 03-ST21-E13M-984 Male 3- Uv UV W272 0 614 03-ST21-D15N-979 Female 3- Uv UV W272 0 616 03-ST21-J01C-943 Male 3- Uv UV W272 0 617 03-ST21-C01R-976 Female 3- Uv UV W272 0 1580 02-GU05-S15P-961 Female 3- Uv UV 0
c.685C>T	4		p.Arg229Cys	Ju,Sm,NM,NMH,FA,HD	3- Uv	3 - UV	UV	TENGEN	1/05/18	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1533 02-IM21-D15R-954 Female 3- Uv UV 0 1972 04-AR01-J05-989 Male 3- Uv UV 0
c.691G>C	4		p.Asp231His	Ju,Sm,NM,NMH,FA,HD	3- UV	3 - UV	UV	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 87 04-CA04-J05A-951 Male 3- UV UV 0
c.699G>A	4		p.Lys233Lys	Ju,Sm,NM,NMH,FA,HD	3- Uv	3 - UV	UV	TENGEN	19/11/21	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1959 03-DZ09-A14-951 Female 3- Uv UV 0
c.700A>T	4		p.Met234Leu	Ju,Sm,NM,NMH,FA,HD	3- Uv	3 - UV	UV	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 618 03-GI18-S25L-966 Female 3- Uv UV 0
c.725C>T	4		p.Ala242Val	Ju,Sm,NM,NMH,FA,HD	3- Uv	3 - UV	UV	TENGEN	19/11/21	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1960 01-MO14-D01-985 Female 3- Uv UV 0
c.740T>C	4		p.Ile247Thr	Sm,NM,NMH,FA,HD	3- Uv	3 - UV	UV	TENGEN	10/03/23	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1985 04-HO13-M01-952 Female 3- Uv UV 0
c.751A>C	4		p.Thr251Pro	Sm,NM,NMH,FA,HD	3- UV	3 - UV	UV	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1899 03-GRE-001-000 Unknown 3- UV UV 0
c.751A>G	4		p.Thr251Ala	Sm,NM,NMH,FA,HD	3- Uv	3 - UV	UV	TENGEN	19/11/21	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1961 04-MA19-I19A-954 Female 3- Uv UV 0
c.IVS4-15DelTC (c.784-15DelTC)	5			Sm,NM,NMH,FA,HD	3- Uv	3 - UV	UV	TENGEN	1/05/18	4
UMD_id Sample ID Gender Biological significance Variation class Family ID References 92 04-LE07-J01C-928 Female 3- Uv UV 13 658 03-DE02-I19A-971 Female 3- Uv UV 13 661 03-BO21-J21L-995 Male 3- Uv UV W2012 0 663 03-BO21-L01U-967 Female 3- Uv UV W2012 24
c.IVS4-20DelCT (c.784-20DelCT)	5			Sm,NM,NMH,FA,HD	3- Uv	3 - UV	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 664 03-CO12-M01R-968 Female 3- Uv UV 0
c.803A>G	5		p.Tyr268Cys	Sm,NM,NMH,FA,HD	3- Uv	3 - UV	UV	TENGEN	6/11/20	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1929 01-JO01-G05-948 Male 3- Uv UV W2020-1 0 1783 02-BO21-R15L-947 Male 3- Uv UV 0
c.810G>C	5		p.Leu270Leu	Sm,NM,NMH,FA,HD	3- Uv	3 - UV	UV	TENGEN	9/04/21	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1943 04-CH01-D01N-004 Male 3- Uv UV 0
c.IVS5-14T>C (c.825-14T>C)	5-6				3- Uv	3 - UV	UV	TENGEN	9/04/21	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1944 04-AD14-M01-974 Male 3- Uv UV 0
c.IVS5-22DelCT (c.825-22DelCT)	5-6				3- Uv	3 - UV	UV	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1853 01-FE18-I19A-000 Female 3- Uv UV 0
c.834G>A	6		p.Met278Ile	Pem,NM,NMH,FA,HD	3- Uv	3 - UV	UV	TENGEN	19/11/21	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1962 03-DE19-A13-963 Male 3- Uv UV 0
c.869A>T	6		p.Glu290Val	Pem,NM,RP,NMH,FA,HD	3- Uv	3 - UV	UV	TENGEN	1/01/17	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 108 04-ST05-J05N-986 Female 3- Uv UV 0 1920 04-ST05-J05-986 Female 3- Uv UV 0
c.903C>T	6		p.Leu301Leu	Pem,NM,RP,NMH,FA,HD	3- Uv	3 - UV	UV	TENGEN	9/04/21	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1945 04-BL01-F18-981 Male 3- Uv UV 0
c.IVS6+23C>T (c.912+23C>T)	6			Pem,NM,RP,NMH,FA,HD	3- Uv	3 - UV	UV	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 708 03-OG18-N09C-941 Female 3- Uv UV W1008 0
c.948A>T	7		p.Glu316Asp	NF,NM,RP,FA,HD	3- Uv	3 - UV	UV	TENGEN	1/05/18	5
UMD_id Sample ID Gender Biological significance Variation class Family ID References 114 04-FO21-R15M-984 Male 3- Uv UV W1094 0 115 04-OT08-G21I-989 Male 3- Uv UV W2098 0 116 04-OT08-J15S-961 Female 3- Uv UV W2098 0 117 04-OT08-O03E-995 Female 3- Uv UV W2098 0 118 04-OT08-B05N-996 Male 3- Uv UV W2098 0
c.964A>T	7		p.Met322Leu	NF,NM,RP,FA,HD	3- Uv	3 - UV	UV	TENGEN	1/05/18	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1561 02-PH01-N09C-951 Female 3- Uv UV W1122 0 1562 02-PH01-D01N-948 Female 3- Uv UV W1122 0
c.1034C>A	7		p.Ala345Asp	Ju,NF,Pem,NM,RP,FA,HD	3- Uv	3 - UV	UV	TENGEN	1/01/17	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 125 04-CA14-D01N-965 Male 3- Uv UV 0 1924 04-CA14-D01-965 Male 3- Uv UV 0
c.IVS7-3C>G (c.1050-3C>G)	7-8				3- Uv	3 - UV	UV	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1855 01-AB04-B05N-948 Male 3- Uv UV 0
c.IVS7-42G>C (c.1050-42G>C)	7-8			Ju,NF,Pem,NM,RP,FA,HD	3- Uv	3 - UV	UV	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1626 02-TH09-L01W-963 Female 3- Uv UV 0
c.1054A>G	8		p.Asn352Asp	Ju,NF,Pem,NM,RP,FA,HD	3- Uv	3 - UV	UV	TENGEN	19/11/21	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1963 01-DA12-M15-959 Male 3- Uv UV 0
c.1063C>T	8		p.Arg355Trp	Ju,NF,Pem,NM,RP,FA,HD	3- Uv	3 - UV	UV	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 133 04-LA22-J05A-944 Male 3- Uv UV 15
c.1078A>T	8		p.Ile360Phe	Ju,NF,Pem,NM,RP,FA,HD	3- Uv	3 - UV	UV	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 798 02-RE07-P01S-970 Male 3- Uv UV W1024 0
c.1128G>A	8		p.Leu376Leu	Ju,NF,Pem,NM,RP,FA,mS,HD	3- Uv	3 - UV	UV	TENGEN	1/01/17	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1925 04-LA06-C05-958 Female 3- Uv UV 0
c.1154C>T	8		p.Ala385Val	Ju,Pem,NM,RP,FA,mS,HD	3- Uv	3 - UV	UV	TENGEN	1/05/18	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 801 03-MO21-C01R-979 Female 3- Uv UV W133 12 803 03-MO21-C15L-951 Female 3- Uv UV W133 12
c.1158C>T	8		p.Gly386Gly	Ju,Pem,NM,RP,FA,mS,HD	3- Uv	3 - UV	UV	TENGEN	9/06/22	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1974 01-DO18-S25-966 Female 3- Uv UV 0
c.1207G>A	9		p.Ala403Thr	Ju,Pem,NM,RP,HD,CH	3- Uv	3 - UV	UV	TENGEN	6/11/20	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1930 01-QU05-E12-978 Female 3- Uv UV W2020-3 0
c.1209C>A	9		p.Ala403Ala	Ju,Pem,NM,RP,HD,CH	3- Uv	3 - UV	UV	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1641 02-DE19-M01R-943 Male 3- Uv UV 0
c.1256G>A	9		p.Gly419Asp	Ju,Pem,NM,RP,HD,CH	3- Uv	3 - UV	UV	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 924 03-LE03-J05R-979 Male 3- Uv UV 0
c.1270G>A	9		p.Glu424Lys	Ju,Pem,NM,RP,HD,CH	3- Uv	3 - UV	UV	TENGEN	9/04/21	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1949 01-OU01-H01-977 Male 3- Uv UV W2021-4 0
c.1273G>A	9		p.Glu425Lys	Ju,Pem,NM,RP,HD,CH	3- Uv	3 - UV	UV	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 915 03-PE18-R15G-939 Male 3- Uv UV 0
c.IVS9-24A>G (c.1351-24A>G)	10			Pem,NM,CH	3- Uv	3 - UV	UV	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1521 02-BE01-V09R-976 Female 3- Uv UV 0
c.1354C>T	10		p.Arg452Trp	Pem,NM,CH	3- Uv	3 - UV	UV	TENGEN	1/05/18	3
UMD_id Sample ID Gender Biological significance Variation class Family ID References 169 04-DU16-A09M-943 Female 3- Uv UV 0 170 04-GA18-M01R-951 Female 3- Uv UV 0 1214 03-OK20-M09C-954 Male 3- Uv UV 0
c.1380_1391del	10		p.Glu461_Ala464del	Pem,NM,CH	3- Uv	3 - UV	UV	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1453 01-SE11-M01R-950 Female 3- Uv UV W1018 0
c.1405G>C	10		p.Glu469Gln	Pem,NM,CH	3- Uv	3 - UV	UV	TENGEN	1/05/18	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1198 03-DU18-H05N-966 Male 3- Uv UV W2035 0 1199 01-DU18-N09C-995 Male 3- Uv UV W2035 0
c.1513G>A	10		p.Gly505Ser	Sm3,CH	3- Uv	3 - UV	UV	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1596 02-YI14-P01U-964 Female 3- Uv UV 0
c.1514G>T	10		p.Gly505Val	Sm3,CH	3- Uv	3 - UV	UV	TENGEN	1/05/18	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 976 03-GA21-C01N-986 Female 3- Uv UV W2039 0 1216 03-GA21-M01R-950 Female 3- Uv UV W2039 0
c.1547G>A	10		p.Arg516Gln	Sm3,CH	3- Uv	3 - UV	UV	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1285 03-FR21-F12O-984 Male 3- Uv UV 0
c.1560G>A	10		p.Gly520Gly	Sm3,CH	3- Uv	3 - UV	UV	TENGEN	19/11/21	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1964 04-BO19-C08R-951 Female 3- Uv UV 0
c.1567G>C	10		p.Ala523Pro	Sm3,CH	3- Uv	3 - UV	UV	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1594 02-LI14-M01R-962 Male 3- Uv UV 0
c.1594G>T	10		p.Gly532Cys	Sm3,CH	3- Uv	3 - UV	UV	TENGEN	1/05/18	7
UMD_id Sample ID Gender Biological significance Variation class Family ID References 206 04-GL15-C01R-965 Female 3- Uv UV 9 1372 01-FR01-G01E-977 Female 3- Uv UV W1112 3 1373 01-FR01-E13E-987 Female 3- Uv UV W1112 3 1374 01-FR01-E12E-985 Female 3- Uv UV W1112 3 1375 01-FR01-D15M-957 Female 3- Uv UV W1112 3 1376 01-FR01-D01N-978 Male 3- Uv UV W1112 3 1514 02-KO16-H05N-938 Male 3- Uv UV 3
c.1618C>T	10		p.Pro540Ser	Sm3,CH	3- Uv	3 - UV	UV	TENGEN	1/05/18	13
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1889 04-QU05-C12A-947 Female 3- Uv UV 14 207 04-CH01-S25L-967 Male 3- Uv UV W2072 14 208 04-CH01-S01L-997 Female 3- Uv UV W2072 14 209 04-GU05-T08I-970 Male 3- Uv UV W2071 14 210 04-GU05-E12I-942 Female 3- Uv UV W2071 14 211 04-GU05-F12O-964 Female 3- Uv UV W2071 14 212 04-OL09-S25V-963 Female 3- Uv UV W2094 14 213 04-OL09-H05L-938 Female 3- Uv UV W2094 14 214 04-RO07-M01R-990 Male 3- Uv UV W2094 14 1108 03-DU02-D01N-944 Female 3- Uv UV W1029 14 1174 03-GU01-P09E-934 Male 3- Uv UV W1027 14 1274 03-AY18-J05A-944 Male 3- Uv UV W1033 14 1282 03-AY18-M09C-006 Male 3- Uv UV W1033 14
c.1621A>T	10		p.Thr541Ser	Sm3,CH	3- Uv	3 - UV	UV	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1584 02-LA13-M01R-952 Female 3- Uv UV 0
c.1635G>A	10		p.Pro545Pro	Sm3,CH	3- Uv	3 - UV	UV	TENGEN	9/06/22	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1976 04-BE25-Y01-005 Female 3- Uv UV 0
c.1648G>C	10		p.Val550Leu	Sm3,CH	3- Uv	3 - UV	UV	TENGEN	19/11/21	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1965 01-MA18-J15-965 Male 3- Uv UV 0
c.1712A>G	10		p.Asn571Ser	Sm,ASK,CH	3- Uv	3 - UV	UV	TENGEN	19/11/21	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1967 03-NA22-A21-991 Female 3- Uv UV 0
c.1715C>T	10		p.Ser572Leu	Sm,ASK,CH	3- Uv	3 - UV	UV	TENGEN	9/06/22	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1977 01-GR09-F01-970 Female 3- Uv UV 0
c.1716G>C	10		p.Ser572Ser	Sm,ASK,CH	3- Uv	3 - UV	UV	TENGEN	19/11/21	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1968 03-GU09-G05-943 Female 3- Uv UV 0
c.1814G>A	10		p.Arg605Gln	Sm,ASK,CH	3- Uv	3 - UV	UV	TENGEN	1/05/18	1
UMD_id Sample ID Gender Biological significance Variation class Family ID References 1705 02-DR15-A18N-962 Male 3- Uv UV 0
c.IVS10+39T>G (c.1833+39T>G)	10		p.X611Spl.ext175		3- Uv	3 - UV	UV	TENGEN	1/05/18	2
UMD_id Sample ID Gender Biological significance Variation class Family ID References 217 04-LA14-C08R-970 Male 3- Uv UV 0 218 04-MO18-L15I-983 Male 3- Uv UV 0