The UMD-MEN1 mutations database
Splice mutations (<10 bp from exon) (186 records)

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Met1?	c.IVS1-10G>A (c.1-10G>A)	2	1	Ju, NM, RP		Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 224 04-BE10-H01Y-983 Female Heterozygous LIKELY NEUTRAL 0 225 04-PA19-C25R-986 Male Heterozygous LIKELY NEUTRAL 0 1866 04-LA21-M09C-976 Male Heterozygous LIKELY NEUTRAL 0
p.Met1?	c.IVS1-6G>A (c.1-6G>A)	2	1	Ju, NM, RP		Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 226 04-MA18-J05A-980 Male Heterozygous LIKELY NEUTRAL 0 1418 01-MA26-L15U-995 Female Heterozygous LIKELY NEUTRAL w2060 0 1419 01-MA26-O12I-967 Male Heterozygous LIKELY NEUTRAL w2060 0
	c.IVS2-3C>G (c.446-3C>G)	2-3	149	Ju, Sm,NM,HD		Small rearrangement	Tv	C->G	14
UMD_id Sample ID Gender Mutation status Variation class Family ID References 429 03-LE15-R15B-951 Male Heterozygous CAUSAL W119 21 430 03-BO21-C08R-976 Female Heterozygous CAUSAL W119 21 432 03-ME14-J05A-942 Male Heterozygous CAUSAL W119 21 433 03-MA04-N05L-947 Female Heterozygous CAUSAL W119 21 434 03-LE15-B18U-966 Male Heterozygous CAUSAL W119 21 435 03-MA04-G21L-982 Male Heterozygous CAUSAL W119 21 436 03-WE19-V05R-963 Female Heterozygous CAUSAL W2064 21 437 03-LE15-B05N-996 Male Heterozygous CAUSAL W119 21 438 03-MA04-L09L-009 Female Heterozygous CAUSAL W119 21 439 03-LE15-M01R-994 Female Heterozygous CAUSAL W119 21 440 03-MA04-N14A-005 Male Heterozygous CAUSAL W119 21 1583 02-ME14-J05A-942 Male Heterozygous CAUSAL W119 0 1869 04-WE19-E12O-994 Female Heterozygous CAUSAL W2064 21 1870 04-WE19-R15M-991 Male Heterozygous CAUSAL W2064 21
	c.IVS3+1G>A (c.654+1G>A)	3	218			Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 496 03-LE04-V05R-968 Female Heterozygous CAUSAL W1000 45 1842 02-SR09-S21G-981 Female Heterozygous CAUSAL 45
	c.IVS3-1delinsTT (c.655-1delinsTT)	4	219			Small rearrangement	Tv	delinsTT	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1516 02-DE12-L01U-964 Female Heterozygous CAUSAL W2006 23 1518 02-BO21-G05O-936 Male Heterozygous CAUSAL W2006 23
	c.IVS3-1G>T (c.655-1G>T)	4	219	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 554 03-MA20-H21B-938 Male Heterozygous CAUSAL 23
	c.IVS3-2A>G (c.655-2A>G)	4	219	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Ts	A->G	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 75 04-BO21-Y14E-999 Female Heterozygous LIKELY CAUSAL W2097 0 76 04-BO21-A02D-977 Male Heterozygous LIKELY CAUSAL W2097 0
	c.IVS3-3A>G (c.655-3A>G)	4	219	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Ts	A->G	6
UMD_id Sample ID Gender Mutation status Variation class Family ID References 538 03-LE22-B05N-982 Male Heterozygous CAUSAL W55 3 539 03-LE22-N01T-983 Female Heterozygous CAUSAL W55 3 540 03-LE22-F18A-974 Male Heterozygous CAUSAL W55 3 542 03-LE22-G01B-008 Male Heterozygous CAUSAL W55 3 544 03-LE22-A12A-956 Female Heterozygous CAUSAL W55 3 548 03-GU18-S01C-007 Male Heterozygous CAUSAL W55 3
	c.IVS3-4Del (c.655-4Del)	4	219			Small rearrangement	Tv	Del	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1966 03-DU02-A21-971 Female UV 0
	c.IVS3-5C>G (c.655-5C>G)	4	219	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 532 03-TR01-D01O-962 Male Heterozygous UV 0
	c.IVS3-6C>A (c.655-6C>A)	4	219	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Tv	C->A	7
UMD_id Sample ID Gender Mutation status Variation class Family ID References 79 04-DU22-E19T-976 Female Heterozygous UV W2091 13 80 04-DU22-A14D-943 Female Heterozygous UV W2091 13 81 04-FR01-Z05F-011 Male Heterozygous UV W2090 13 82 04-FR01-M01R-976 Female Heterozygous UV W2090 13 83 04-FR01-F05R-947 Female Heterozygous UV W2090 13 84 04-FR01-A14A-974 Female Heterozygous UV W2090 13 1645 02-GE18-G12A-994 Female Heterozygous UV 13
	c.IVS3-6C>T (c.655-6C>T)	4	219	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Ts	C->T	22
UMD_id Sample ID Gender Mutation status Variation class Family ID References 77 04-CR05-M01R-974 Female Heterozygous LIKELY CAUSAL 12 78 04-DI15-N01B-976 Male Heterozygous LIKELY CAUSAL 12 85 04-MO25-O12G-990 Female Heterozygous LIKELY CAUSAL 12 1852 01-PA20-A14N-000 Female Heterozygous LIKELY CAUSAL 12 529 03-LU26-M21A-964 Female Heterozygous LIKELY CAUSAL W1100 12 530 03-LA25-T01N-961 Female Heterozygous LIKELY CAUSAL W1137 12 533 03-AL09-A04E-000 Female Heterozygous LIKELY CAUSAL 12 534 03-MA18-N09C-958 Female Heterozygous LIKELY CAUSAL W150 12 536 03-CA18-L09S-951 Female Heterozygous LIKELY CAUSAL W150 12 537 03-CA18-T08E-933 Female Heterozygous LIKELY CAUSAL W150 12 545 03-JA12-F05L-963 Male Heterozygous LIKELY CAUSAL W2009 12 546 03-JA12-C08L-992 Female Heterozygous LIKELY CAUSAL W2009 12 547 03-JA12-O12I-990 Female Heterozygous LIKELY CAUSAL W2009 3 549 03-JU19-C12A-947 Female Heterozygous LIKELY CAUSAL 12 555 03-DJ05-N01D-962 Female Heterozygous LIKELY CAUSAL 3 556 03-LU26-C12A-990 Female Heterozygous LIKELY CAUSAL W1100 3 1607 02-FI19-E12I-980 Female Heterozygous LIKELY CAUSAL 3 1907 02-GE04-J15S-954 Male Heterozygous LIKELY CAUSAL W2036 7 1670 02-LA23-D05D-958 Female Heterozygous LIKELY CAUSAL 12 1679 02-LO21-G08I-988 Female Heterozygous LIKELY CAUSAL 3 1791 02-CU22-J15S-947 Female Heterozygous LIKELY CAUSAL 3 1823 02-MA14-F18A-955 Female Heterozygous LIKELY CAUSAL 3
	c.IVS4+1G>A (c.783+1G>A)	4	261	Sm,NM,NMH,FA,HD		Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 89 04-IB01-F12O-977 Female Heterozygous CAUSAL W2092 5 90 04-IB01-F12O-000 Male Heterozygous CAUSAL W2092 5 91 04-MU18-A12A-947 Male Heterozygous CAUSAL W2092 5
	c.IVS4+1G>T (c.783+1G>T)	4	261	Sm,NM,NMH,FA,HD		Small rearrangement	Tv	G->T	37
UMD_id Sample ID Gender Mutation status Variation class Family ID References 620 03-GU05-T08O-004 Male Heterozygous CAUSAL W31 7 624 03-RO03-J15S-934 Male Heterozygous CAUSAL W31 7 625 03-GU05-D15M-964 Male Heterozygous CAUSAL W31 7 626 03-BO21-T08E-937 Female Heterozygous CAUSAL W31 7 627 03-GU05-F05R-956 Male Heterozygous CAUSAL W31 7 628 03-JO12-E18I-976 Male Heterozygous CAUSAL W31 7 629 03-GU05-C25R-983 Male Heterozygous CAUSAL W31 7 630 03-RO03-D01M-988 Male Heterozygous CAUSAL W31 7 631 03-CA04-Y22E-963 Male Heterozygous CAUSAL W31 7 632 03-CA04-O12I-976 Male Heterozygous CAUSAL W31 7 633 03-BR15-C05L-982 Female Heterozygous CAUSAL W31 7 635 03-BO21-V09R-980 Female Heterozygous CAUSAL W31 7 636 03-BO21-S15P-978 Female Heterozygous CAUSAL W31 7 637 03-GU09-M09R-949 Female Heterozygous CAUSAL W31 7 639 03-BO19-S25L-970 Female Heterozygous CAUSAL W31 7 640 03-DE14-M01R-961 Female Heterozygous CAUSAL W31 7 641 03-GU05-M09C-944 Male Heterozygous CAUSAL W31 7 642 03-PO20-S15N-972 Female Heterozygous CAUSAL W31 7 643 03-GU05-C12A-937 Male Heterozygous CAUSAL W31 7 644 03-GU05-C08R-968 Male Heterozygous CAUSAL W31 7 645 03-BR15-N01D-960 Female Heterozygous CAUSAL W31 7 646 03-BO21-E12I-942 Female Heterozygous CAUSAL W31 7 647 03-BU12-L01U-972 Male Heterozygous CAUSAL W31 7 648 03-BU12-J05A-975 Male Heterozygous CAUSAL W31 7 649 03-RO03-G09L-957 Male Heterozygous CAUSAL W31 7 650 03-MO18-D01N-951 Female Heterozygous CAUSAL W31 7 651 03-GU05-Y01N-960 Male Heterozygous CAUSAL W31 7 652 03-GU09-E12O-972 Female Heterozygous CAUSAL W31 7 653 03-GU09-H21G-952 Female Heterozygous CAUSAL W31 7 654 03-MO18-D15M-969 Male Heterozygous CAUSAL W31 7 657 03-RO03-B05R-964 Male Heterozygous CAUSAL W31 3 1291 01-BA26-N15A-009 Male Heterozygous CAUSAL W31 3 1292 01-AV18-A16P-996 Female Heterozygous CAUSAL W31 3 1293 01-AV18-E12I-000 Female Heterozygous CAUSAL W31 3 1294 01-PO20-M01R-997 Male Heterozygous CAUSAL W31 3 1295 01-DE14-Z15E-000 Female Heterozygous CAUSAL W31 3 1296 01-MO18-C12E-000 Female Heterozygous CAUSAL W31 3
	c.IVS4-1G>C (c.784-1G>C)	5	262	Sm,NM,NMH,FA,HD		Small rearrangement	Tv	G->C	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 431 03-LA08-A02D-959 Male Heterozygous CAUSAL W1010 7 638 03-AS01-M01R-964 Female Heterozygous CAUSAL W111 7
	c.IVS4-9G>A (c.784-9G>A)	5	262	Sm,NM,NMH,FA,HD		Small rearrangement	Ts	G->A	10
UMD_id Sample ID Gender Mutation status Variation class Family ID References 634 03-CU19-E04D-975 Male Heterozygous CAUSAL W57 24 655 03-E12I-P09E-957 Male Heterozygous CAUSAL W57 24 656 03-LE02-F18A-966 Male Heterozygous CAUSAL W1002 24 659 03-OR09-G05O-990 Female Heterozygous CAUSAL W2011 24 660 03-NO18-L09N-957 Female Heterozygous CAUSAL W2011 24 662 03-CU19-M01R-953 Female Heterozygous CAUSAL W57 24 1321 01-BR21-J05A-943 Male Heterozygous CAUSAL 27 1365 01-EL09-K05V-987 Male Heterozygous CAUSAL W57 28 1769 02-AB09-C12A-000 Female Heterozygous CAUSAL 13 1782 02-BO21-E12I-955 Female Heterozygous CAUSAL 13
	c.IVS5+5G>A (c.824+5G>A)	5-6	275	Sm,NM,NMH,FA,HD		Small rearrangement	Ts	G->A	10
UMD_id Sample ID Gender Mutation status Variation class Family ID References 100 04-BO25-M01R-951 Female Heterozygous CAUSAL 0 683 03-MA21-R15M-992 Male Heterozygous CAUSAL W30 0 685 03-GR09-R05N-942 Male Heterozygous CAUSAL W30 0 686 03-GR09-J05A-974 Male Heterozygous CAUSAL W30 0 687 03-GR09-P09E-940 Male Heterozygous CAUSAL W30 0 688 03-GR09-M09C-946 Female Heterozygous CAUSAL W30 0 689 03-MA21-P01T-960 Male Heterozygous CAUSAL W30 0 690 03-MA21-G09N-936 Female Heterozygous CAUSAL W30 0 696 03-MA21-M01R-936 Female Heterozygous CAUSAL W30 0 1319 01-BR01-C12A-943 Male Heterozygous CAUSAL 0
	c.IVS5-1G>C (c.825-1G>C)	5-6	275	Sm,NM,NMH,FA,HD		Small rearrangement	Tv	G->C	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1362 01-DE12-C08O-011 Female Heterozygous CAUSAL W1090 7 1363 01-DI05-D05L-985 Female Heterozygous CAUSAL W1090 6
	c.IVS6+1G>A (c.912+1G>A)	6	304	Pem,NM,RP,NMH,FA,HD		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 709 03-TH05-J05A-955 Male Heterozygous CAUSAL 15
	c.IVS6+1G>T (c.912+1G>T)	6	304	Pem,NM,RP,NMH,FA,HD		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 710 03-TO02-S21Z-968 Female Heterozygous CAUSAL W1062 0
	c.IVS6-1G>A (c.913-1G>A)	7	305	NF,Pem,NM,RP,NMH,FA,HD		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 109 04-CE12-A14N-978 Female Heterozygous CAUSAL 0 707 03-RI22-M01R-958 Female Heterozygous CAUSAL W1012 0
	c.IVS7+10C>T (c.1049+10C>T)	7-8	350	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1339 01-CH01-J05S-982 Female Heterozygous UV 0 1973 04-LA13-C08-993 Female LIKELY NEUTRAL 0
	c.IVS7+1G>A (c.1049+1G>A)	7-8	350	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Ts	G->A	9
UMD_id Sample ID Gender Mutation status Variation class Family ID References 782 03-ME18-F18A-955 Male Heterozygous CAUSAL W118 6 777 03-AU20-R15L-955 Male Heterozygous CAUSAL W260 6 779 03-LE04-E13M-951 Male Heterozygous CAUSAL W112 6 1302 01-BE18-L09O-972 Male Heterozygous CAUSAL W270 3 1303 01-BE18-L01U-997 Female Heterozygous CAUSAL W270 3 1304 01-BE18-T08O-001 Male Heterozygous CAUSAL W270 3 1305 02-BE18-Y22O-976 Male Heterozygous CAUSAL W270 3 1824 02-ME18-J05S--984 Female Heterozygous CAUSAL W118 3 1825 02-ME18-F18A-955 Male Heterozygous CAUSAL W118 3
	c.IVS7+1G>T (c.1049+1G>T)	7-8	350	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Tv	G>T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1471 01-WA12-C08R-972 Female Heterozygous LIKELY CAUSAL 0
	c.IVS7+2T>C (c.1049+2T>C)	7-8	350	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 781 04-VI04-D15M-973 Female Heterozygous CAUSAL W1007 0
	c.IVS7+3G>C (c.1049+3G>C)	7-8	350	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Tv	G->C	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 127 04-US05-M01R-960 Female Heterozygous LIKELY CAUSAL W2093 0 783 03-RI03-D05N-934 Female Heterozygous LIKELY CAUSAL W56 0 1567 02-DE12-M09C-956 Female Heterozygous LIKELY CAUSAL W2093 0 1569 02-DE12-D09A-988 Female Heterozygous LIKELY CAUSAL W2093 0
	c.IVS7+4A>T (c.1049+4A>T)	7-8	350	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Tv	A->T	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 778 03-LA13-M01U-978 Female Heterozygous LIKELY CAUSAL W219 0 780 03-JE26-H05R-949 Male Heterozygous LIKELY CAUSAL W219 0
	c.IVS7+5G>A (c.1049+5G>A)	7-8	350	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 128 04-PO21-M01R-960 Female Heterozygous LIKELY CAUSAL W2027 12 129 04-ZE18-B18I-969 Female Heterozygous LIKELY CAUSAL 12 1836 02-RI03-R15B-951 Male Heterozygous LIKELY CAUSAL W2027 12
	c.IVS7+9C>T (c.1049+9C>T)	7-8	350	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 784 03-GO21-S05V-985 Female Heterozygous LIKELY NEUTRAL 0
	c.IVS7-1G>C (c.1050-1G>C)	7-8	350			Small rearrangement	Tv	G->C	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1882 04-GA21-Z15E-001 Heterozygous LIKELY CAUSAL W2068 0 130 04-BE14-M25R-970 Female Heterozygous LIKELY CAUSAL W2068 0 131 04-BE14-K01R-972 Female Heterozygous LIKELY CAUSAL W2068 0 132 04-CA26-M01R-994 Female Heterozygous LIKELY CAUSAL W2068 0
	c.IVS7-2A>C (c.1050-2A>C)	7-8	350	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1613 02-CE18-C01R-994 Female Heterozygous LIKELY CAUSAL 0
	c.IVS7-3C>G (c.1050-3C>G)	7-8	350			Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1855 01-AB04-B05N-948 Male Heterozygous UV 0
	c.IVS9+1Del12 (c.1350+1Del12)	9	450			Small rearrangement	Tv	Del12	8
UMD_id Sample ID Gender Mutation status Variation class Family ID References 849 03-FA20-C12A-944 Female Heterozygous CAUSAL W168 0 855 03-FA20-A14T-993 Male Heterozygous CAUSAL W168 0 857 03-FA20-C09N-991 Female Heterozygous CAUSAL W168 0 862 03-FA20-D05N-965 Male Heterozygous CAUSAL W168 0 1298 01-HO21-M05L-997 Female Heterozygous CAUSAL W168 15 1299 01-HO21-S15N-990 Female Heterozygous CAUSAL W168 15 1300 01-HO21-S25L-966 Female Heterozygous CAUSAL W168 15 1301 01-BE01-J05A-941 Male Heterozygous CAUSAL W168 15
	c.IVS9+4DelAG (c.1350+4DelAG)	9	450	Pem,NM,HD,CH		Small rearrangement	Tv	DelAG	8
UMD_id Sample ID Gender Mutation status Variation class Family ID References 939 03-RO07-C08A-995 Female Heterozygous LIKELY CAUSAL W41 7 940 03-RO07-S01N-972 Female Heterozygous LIKELY CAUSAL W41 7 941 03-GE18-L15U-935 Female Heterozygous LIKELY CAUSAL W41 7 942 03-GE18-D15M-955 Male Heterozygous LIKELY CAUSAL W41 7 945 03-GE18-S21Z-981 Female Heterozygous LIKELY CAUSAL W41 7 946 03-GE18-O12I-978 Male Heterozygous LIKELY CAUSAL W41 7 947 03-GE18-A14G-985 Female Heterozygous LIKELY CAUSAL W41 7 950 03-GE18-R05N-958 Male Heterozygous LIKELY CAUSAL W41 7
	c.IVS9-1G>C (c.1351-1G>C)	10	451	Pem,NM,CH		Small rearrangement	Tv	G->C	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 937 03-LE06-E12O-978 Female Heterozygous CAUSAL W1115 0 943 03-BA09-B12A-950 Female Heterozygous CAUSAL W232 0 948 03-BA09-A12E-973 Male Heterozygous CAUSAL W232 0
	c.IVS9-1G>T (c.1351-1G>T)	10	451	Pem,NM,CH		Small rearrangement	Tv	G->T	5
UMD_id Sample ID Gender Mutation status Variation class Family ID References 166 04-ES20-M01G-972 Female Heterozygous CAUSAL W190 18 168 04-VO12-J15C-952 Female Heterozygous CAUSAL W190 18 938 03-OL09-M01R-926 Female Heterozygous CAUSAL W190 18 944 03-VO12-J15C-952 Male Heterozygous CAUSAL W190 18 1598 02-GO21-R01J-974 Male Heterozygous CAUSAL 0
	c.IVS9-4C>T (c.1351-4C>T)	10	451	Pem,NM,CH		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 951 03-HA02-A14D-942 Male Heterozygous LIKELY NEUTRAL 31