The UMD-DMD France mutations database
Small insertions (54 records)

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Asn39LysfsX5	c.116dup	3	39	Actin binding domain		Small rearrangement	Fr.	Stop at 43	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1001 ---603-0-1 Male Hemizygous - DMD 10
p.Leu44ArgfsX46	c.127_130dup	3	44	Actin binding domain		Small rearrangement	Fr.	Stop at 89	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3330 ---876-0-1 Male Hemizygous FRANCE DMD 1
p.Arg48GlufsX41	c.141dup	3	48	Actin binding domain		Small rearrangement	Fr.	Stop at 88	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3202 ---240-0-1 Male Hemizygous FRANCE DMD 1
p.Gln60AlafsX29	c.177dup	3	60	Actin binding domain		Small rearrangement	Fr.	Stop at 88	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3129 ---121-0-1 Male Hemizygous FRANCE DMD 1
p.Ala80SerfsX9	c.238insA	4	80	Actin binding domain		Small rearrangement	Fr.	Stop at 88	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3142 ---030-0-1 Male Hemizygous FRANCE DMD 1
p.Val123delinsVal	c.368dup	6	123	Actin binding domain		Small rearrangement	Fr.	Ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3139 ---549-0-1 Male Hemizygous FRANCE DMD 1
p.Gln153ThrfsX3	c.455dup	6	152	Actin binding domain		Small rearrangement	Fr.	Stop at 155	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3031 ---801-0-1 Male Hemizygous - DMD 10
p.Glu216X	c.644dup	7	215	Actin binding domain		Small rearrangement	Fr.	Stop at 216	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2258 ---084-C-11 Male Hemizygous FRANCE DMD 114
p.Lys297GlnfsX15	c.887dup	9	296	CRD-hinge region #1		Small rearrangement	Fr.	Stop at 311	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2279 ---153-7-A1 Male Hemizygous FRANCE DMD 114
p.Glu432GlyfsX7	c.1294dup	11	432	CRD-repeat #1		Small rearrangement	Fr.	Stop at 438	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3015 ---571-0-1 Male Hemizygous - DMD 10
p.Glu476GlyfsX7	c.1426dup	12	476	CRD-repeat #2		Small rearrangement	Fr.	Stop at 482	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2369 ---095-F-51 Male Hemizygous FRANCE DMD 114
p.Val515GlyfsX4	c.1543dup	13	515	CRD-repeat #2		Small rearrangement	Fr.	Stop at 518	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3128 ---864-0-1 Male Hemizygous FRANCE DMD 1
p.Val516GlyfsX3	c.1544dup	13	515	CRD-repeat #2		Small rearrangement	Fr.	Stop at 518	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1638 ---352-8-91 Male Hemizygous FRANCE DMD 106
p.Lys613GlufsX22	c.1835dup	16	612	CRD-repeat #3		Small rearrangement	Fr.	Stop at 634	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2910 ---129-0-1 Male Hemizygous FRANCE DMD 1
p.Glu692GlyfsX28	c.2074dup	17	692	CRD-hinge region #2		Small rearrangement	Fr.	Stop at 719	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2284 ---171-8-m1 Male Hemizygous FRANCE DMD 114
p.Arg782SerfsX14	c.2346insTTTTCTGC	19	782	CRD-repeat #4		Small rearrangement	Fr.	Stop at 795	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3352 ---887-0-1 Male Hemizygous ARGENTINA BMD 1 3354 ---887-1-1 Male Hemizygous ARGENTINA BMD 1
p.Asn824X	c.2469dup	20	824	CRD-repeat #4		Small rearrangement	Fr.	Stop at 824	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2391 ---065-2-A1 Male Hemizygous FRANCE DMD 114
p.Leu853PhefsX2	c.2557_2558dup	20	853	CRD-repeat #5		Small rearrangement	Fr.	Stop at 854	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3359 ---922-0-1 Male Hemizygous SPAIN DMD 1
p.Leu880MetfsX16	c.2624_2637dup	21	880	CRD-repeat #5		Small rearrangement	Fr.	Stop at 895	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3113 ---764-0-1 Male Hemizygous FRANCE DMD 1
p.Gln977ProfsX37	c.2929dup	22	977	CRD-repeat #6		Small rearrangement	Fr.	Stop at 1013	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3262 ---928-0-1 Male Hemizygous FRANCE DMD 1
p.Lys1089AsnfsX9	c.3267insC	24	1089	CRD-repeat #7		Small rearrangement	Fr.	Stop at 1097	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1446 ---099-6-71 Male Hemizygous FRANCE DMD 102
p.Ser1104GlnfsX7	c.3309dup	25	1104	CRD-repeat #7		Small rearrangement	Fr.	Stop at 1110	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3449 ---968-0-1 Male Hemizygous FRANCE DMD 1
p.Leu1306AlafsX5	c.3914dup	28	1305	CRD-repeat #9		Small rearrangement	Fr.	Stop at 1310	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 861 ---246-0-1 Male Hemizygous FRANCE DMD 10
p.Leu1642PhefsX11	c.4925dup	35	1642	CRD-repeat #12		Small rearrangement	Fr.	Stop at 1652	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 682 ---368-0-1 Male Hemizygous FRANCE BMD 1
p.Ser1768TyrfsX6	c.5299_5302dup	37	1768	CRD-repeat #13		Small rearrangement	Fr.	Stop at 1773	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2387 ---326-7-41 Male Hemizygous BELGIUM DMD 106
p.Asn1813IlefsX3	c.5434_5437dup	38	1813	CRD-repeat #14		Small rearrangement	Fr.	Stop at 1815	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1618 ---313-7-91 Male Hemizygous FRANCE DMD 106
p.Leu2185PhefsX38	c.6554dup	45	2185	CRD-repeat #17		Small rearrangement	Fr.	Stop at 2222	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3269 ---926-0-1 Male Hemizygous FRANCE DMD 1 3350 ---926-0-2 Female Heterozygous FRANCE Symptomatic carrier 1
p.Arg2205GlufsX18	c.6611dup	45	2204	CRD-repeat #17		Small rearrangement	Fr.	Stop at 2222	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3373 ---938-0-1 Male Hemizygous FRANCE DMD 1
p.Ile2283SerfsX9	c.6843_6846dup	47	2283	CRD-repeat #18		Small rearrangement	Fr.	Stop at 2291	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2125 ---402-0-31 Male Hemizygous FRANCE DMD 106
p.Ser2284LysfsX7	c.6848dup	47	2283	CRD-repeat #18		Small rearrangement	Fr.	Stop at 2290	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1465 ---184-2-91 Male Hemizygous FRANCE DMD 100
p.Pro2470ThrfsX21	c.7406dup	51	2469	CRD-hinge region #3		Small rearrangement	Fr.	Stop at 2490	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3371 ---811-0-1 Male Hemizygous FRANCE DMD 1 2394 ---811-0-2 Female Heterozygous FRANCE Symptomatic carrier 1
p.Trp2485LeufsX6	c.7453dup	51	2485	CRD-repeat #20		Small rearrangement	Fr.	Stop at 2490	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3157 ---544-0-1 Male Hemizygous - DMD 10
p.Pro2610SerfsX33	c.7826dup	53	2609	CRD-repeat #21		Small rearrangement	Fr.	Stop at 2642	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2537 ---395-0-01 Male Hemizygous FRANCE DMD 106
p.Ile2620AsnfsX23	c.7858dup	53	2620	CRD-repeat #21		Small rearrangement	Fr.	Stop at 2642	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 685 ---511-0-1 Male Hemizygous FRANCE DMD 10
p.Asp2740ArgfsX5	c.8217dup	56	2740	CRD-repeat #22		Small rearrangement	Fr.	Stop at 2744	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2354 ---365-8-71 Male Hemizygous FRANCE DMD 106
p.Gln2972SerfsX18	c.8912_8913dup	59	2972	CRD-repeat #24		Small rearrangement	Fr.	Stop at 2989	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2352 ---378-9-41 Male Hemizygous FRANCE DMD 106
p.Val3035GlyfsX8	c.9097_9103dup	61	3035	CRD-repeat #24		Small rearrangement	Fr.	Stop at 3042	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3109 ---817-0-1 Male Hemizygous FRANCE DMD 1
p.Phe3045SerfsX47	c.9126_9133dup	61	3045	CRD-hinge region #4		Small rearrangement	Fr.	Stop at 3091	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2608 ---295-6-72 Female Heterozygous FRANCE Symptomatic carrier 106
p.Arg3107LysfsX5	c.9320insAA	64	3107	CRD-hinge region #4		Small rearrangement	Fr.	Stop at 3111	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 693 ---347-0-1 Male Hemizygous FRANCE DMD 10
p.Gly3202ValfsX3	c.9592_9604dup	66	3202	Cystein-rich domain		Small rearrangement	Fr.	Stop at 3204	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1509 ---020-2-11 Male Hemizygous FRANCE DMD 111
p.Ser3225ValfsX6	c.9673insG	67	3225	Cystein-rich domain		Small rearrangement	Fr.	Stop at 3230	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2636 ---495-4-61 Male Hemizygous FRANCE DMD 106
p.Ala3270LeufsX14	c.9806_9807dup	68	3270	Cystein-rich domain		Small rearrangement	Fr.	Stop at 3283	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2282 ---165-D-91 Male Hemizygous FRANCE DMD 114
p.Ala3278GlyfsX37	c.9832dup	68	3278	Cystein-rich domain		Small rearrangement	Fr.	Stop at 3314	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2592 ---182-5-m2 Female Heterozygous FRANCE Symptomatic carrier 114
p.Thr3411AsnfsX22	c.10231dup	71	3411	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3432	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3033 ---653-0-1 Male Hemizygous FRANCE BMD 1
p.Leu3485ProfsX6	c.10453dup	74	3485	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3490	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2338 ---C69-0-981 Male Hemizygous FRANCE Pending 116 1078 ---684-0-1 Male Hemizygous - BMD 1
p.Ser3486GlufsX5	c.10454dup	74	3485	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3490	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3528 ---991-0-1 Male Hemizygous FRANCE DMD 1
p.Gly3535ArgfsX10	c.10602dup	75	3535	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3544	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2254 ---076-0-m1 Male Hemizygous FRANCE DMD 114
p.Met3545AlafsX11	c.10603_10631dup	75	3544	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3555	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3217 ---701-0-1 Male Hemizygous FRANCE DMD 1 3218 ---701-1-1 Male Hemizygous FRANCE DMD 1 3219 ---701-2-1 Male Hemizygous FRANCE DMD 1