The UMD-DMD France mutations database
4 small rearrangements at position 2146

    Request ID: DMD

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Lys2146X	c.6436A>T	44	2146	CRD-repeat #17		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7477 ---MD_CN_HOSP#282 M CN 0
	c.IVS44+1delG (c.6438+1delG)	44	2146			Small rearrangement	Tv	delG	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8824 ---MD_DE#9109BB63-4F7F-4CF M DE 0
	c.IVS44+1G>A (c.6438+1G>A)	44	2146			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7291 ---MD_CN_HOSP#378 M CN 0
	c.IVS44+2insTT (c.6438+2insTT)	44	2146			Small rearrangement	Tv	insTT	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15313 ---MD_UK#138 M UK 0