The UMD-MEN1 mutations database
Mid-intronic mutations (56 records)

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Met1?	c.IVS1-19C>G (c.1-19C>G)	2	1	Ju, NM, RP		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1585 02-JO19-W02R-996 Male Heterozygous UV 0
p.Met1?	c.IVS1-20G>A (c.1-20G>A)	2	1	Ju, NM, RP		Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1644 02-LA23-M09C-961 Female Heterozygous LIKELY NEUTRAL 0 1906 03-BE01-G05R-008 Female Heterozygous LIKELY NEUTRAL 0 1709 02-BL01-B18I-961 Unknown Heterozygous LIKELY NEUTRAL 0
p.Met1?	c.IVS1-22C>A (c.1-22C>A)	2	1	Ju, NM, RP		Small rearrangement	Tv	C->A	10
UMD_id Sample ID Gender Mutation status Variation class Family ID References 219 04-DE22-D09D-953 Male Heterozygous LIKELY NEUTRAL 0 220 04-DU13-C08R-956 Female Heterozygous LIKELY NEUTRAL 0 221 04-MA21-H05L-980 Female Heterozygous LIKELY NEUTRAL W2063 0 222 04-MO18-L21D-982 Male Heterozygous LIKELY NEUTRAL 0 223 04-PE20-J21L-988 Female Heterozygous LIKELY NEUTRAL 0 229 04-FA18-J05A-944 Male Heterozygous LIKELY NEUTRAL 0 1311 01-BL01-C15L-943 Female Heterozygous LIKELY NEUTRAL 0 1861 04-MA21-N05L-959 Female Heterozygous LIKELY NEUTRAL W2063 0 1867 04-BO21-P05G-976 Female Heterozygous LIKELY NEUTRAL 0 1868 04-BO21-H05L-980 Female Heterozygous LIKELY NEUTRAL 0
p.Met1?	c.IVS1-39C>G (c.1-39C>G)	2	1	Ju, NM, RP		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1651 02-BO18-C01R-979 Female Heterozygous Benign 0
p.Met1?	c.IVS1-56G>T (c.1-56G>T)	2	1			Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1978 01-DE-C01R-977 Female UV W2022-7 0
	c.IVS2+11A>G (c.445+11A>G)	2-3	149			Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1934 01-DE02-M09-961 Female UV 0
	c.IVS2+73G>C (c.445+73G>C)	2-3	149	Ju, Sm,NM,HD		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1619 02-GU09-V01L-969 Female Heterozygous LIKELY NEUTRAL 0
	c.IVS3+18INS c (c.654+18INS c)	3	218	Ju,Sm,NMH,HD,NM		Small rearrangement	Tv	INS c	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 552 03-DI13-V01L-988 Female Heterozygous UV 0
	c.IVS3+41A>G (c.654+41A>G)	3	218			Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1851 01-MO18-M01R-953 Female Heterozygous LIKELY NEUTRAL 0
	c.IVS3+48C>T (c.654+48C>T)	3	218	Ju,Sm,NMH,HD,NM		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 74 04-CA20-J21L-990 Female Heterozygous LIKELY NEUTRAL 0
	c.IVS3+82C>T (c.654+82C>T)	3	218			Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1897 04-GO14-M05L-991 Female Heterozygous LIKELY NEUTRAL 0 551 03-VA12-C12A-964 Female Heterozygous LIKELY NEUTRAL 0
	c.IVS3-22Del12 (c.655-22Del12)	4	219			Small rearrangement	Tv	Del12	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 543 03-RO14-A14N-938 Female Heterozygous Mutation 0
	c.IVS3-64T>G (c.655-64T>G)	4	219			Small rearrangement	Tv	T->G	6
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1879 04-CO13-S20E-983 Female Heterozygous LIKELY NEUTRAL 0 531 03-CA22-I19A-958 Female Heterozygous LIKELY NEUTRAL W1109 0 535 03-VE12-J05A-945 Female Heterozygous LIKELY NEUTRAL W1011 0 541 03-RO04-J05A-943 Male Heterozygous LIKELY NEUTRAL W1005 0 550 03-CA22-R01P-984 Male Heterozygous LIKELY NEUTRAL W1109 0 553 03-DO21-C12A-935 Female Heterozygous LIKELY NEUTRAL 0
	c.IVS4-15Del2 (c.784-15Del2)	5	262			Small rearrangement	Tv	Del2	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1980 01-DU10-A04-992 Female LIKELY NEUTRAL W2022-12 0
	c.IVS4-15DelTC (c.784-15DelTC)	5	262	Sm,NM,NMH,FA,HD		Small rearrangement	Tv	DelTC	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 92 04-LE07-J01C-928 Female Heterozygous UV 13 658 03-DE02-I19A-971 Female Heterozygous UV 13 661 03-BO21-J21L-995 Male Heterozygous UV W2012 0 663 03-BO21-L01U-967 Female Heterozygous UV W2012 24
	c.IVS4-20DelCT (c.784-20DelCT)	5	262	Sm,NM,NMH,FA,HD		Small rearrangement	Tv	DelCT	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 664 03-CO12-M01R-968 Female Heterozygous UV 0
	c.IVS4-49C>T (c.784-49C>T)	5	262			Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1903 02-MA18-J01X-958 Heterozygous NEUTRAL 0
	c.IVS5+27C>T (c.824+27C>T)	5-6	275	Sm,NM,NMH,FA,HD		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1593 02-KI22-M01R-970 Female Heterozygous LIKELY NEUTRAL 0
	c.IVS5-14T>C (c.825-14T>C)	5-6	275			Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1944 04-AD14-M01-974 Male UV 0
	c.IVS5-22DelCT (c.825-22DelCT)	5-6	275			Small rearrangement	Tv	DelCT	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1853 01-FE18-I19A-000 Female Heterozygous UV 0
	c.IVS5-35INS G (c.825-35INS G)	5-6	275	Sm,NM,NMH,FA,HD		Small rearrangement	Tv	INS G	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 97 04-KL09-A14N-928 Female Heterozygous LIKELY NEUTRAL W2099 0 98 04-ZI20-M000-947 Male Heterozygous LIKELY NEUTRAL W2099 0 99 04-ZI20-E22Z-973 Male Heterozygous LIKELY NEUTRAL W2099 0
	c.IVS5-41C>T (c.825-41C>T)	5-6	275	Sm,NM,NMH,FA,HD		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 694 03-MI04-M01R-945 Female Heterozygous LIKELY NEUTRAL W1006 0
	c.IVS6+23C>T (c.912+23C>T)	6	304	Pem,NM,RP,NMH,FA,HD		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 708 03-OG18-N09C-941 Female Heterozygous UV W1008 0
	c.IVS7-42G>C (c.1050-42G>C)	7-8	350	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1626 02-TH09-L01W-963 Female Heterozygous UV 0
	c.IVS8-53Del36 (c.1186-53Del36)	9	396			Small rearrangement	Tv	Del36	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1933 01-PO09-D01-967 Male LIKELY CAUSAL W2020-5 0
	c.IVS8-89G>A (c.1186-89G>A)	9	396	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 144 04-PO25-F18A-955 Female Heterozygous LIKELY NEUTRAL 0
	c.IVS8-96G>T (c.1186-96G>T)	9	396	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 145 04-GO01-R15M-991 Male Heterozygous UV 0 1932 04-GO01-R15-991 Male LIKELY NEUTRAL 0
	c.IVS9-115G>C (c.1351-115G>C)	10	451	Pem,NM,CH		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1848 Benign 0
	c.IVS9-24A>G (c.1351-24A>G)	10	451	Pem,NM,CH		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1521 02-BE01-V09R-976 Female Heterozygous UV 0
	c.IVS9-39Del36 (c.1351-39Del36)	10	451			Small rearrangement	Tv	Del36	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 936 03-DI01-M01R-972 Female Heterozygous LIKELY CAUSAL W75 0 949 03-NE09-M01R-953 Female Heterozygous LIKELY CAUSAL W75 0
p.X611Spl.ext175	c.IVS10+39T>G (c.1833+39T>G)	10	611			Small rearrangement	Tv	T->G	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 217 04-LA14-C08R-970 Male Heterozygous UV 0 218 04-MO18-L15I-983 Male Heterozygous UV 0