The UMD-MEN1 mutations database
His to Deletion mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
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.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