Prenatal diagnosis of 1408 foetuses at risk of DMD/BMD by MLPA and Sanger sequencing combined with STR linkage analysis

Table 2 New variants found in the study

No.	Types	Location	Variant	Protein
1	Frameshift	9	c.907_908delCA	p.Gln303Glyfs*8
2	Frameshift	24	c.3168delC	p.His1056Glnfs*5
3	Frameshift	28	c.3865delC	p.Thr1291Profs*16
4	Frameshift	34	c.4809_4812dup	p.Ser1605Alafs*2
5	Frameshift	37	c.5156_5157insG	p.Leu1720Phefs*7
6	Frameshift	39	c.5577delT	p.Asn1859Lysfs*6
7	Frameshift	45	c.6567delT	p.Leu2190Cysfs*17
8	Frameshift	51	c.7486_7487delCA	p.Gln2496Glufs*6
9	Frameshift	72	c.10276_10277insGTCCC	p.Pro3426Argfs*21
10	Frameshift	74	c.10490_10494delCCTTA	p.Ser3497fs*
11	Nonsense	35	c.4930 A > T	p.Lys1644*
12	Nonsense	49	c.7170delC	p.Tyr2390*
13	Nonsense	53	c.7789G > T	p.Gly2597*
14	Splice-site	53	c.7660 + 3_7660 + 6delAAGT	————
15	Splice-site	59	c.8925_8925 + 1insACTC TCTCCAAGATCACCT CGAGAAACT CAAG	————
16	Splice-site	69	c.10086_10086 + 1delG	————

ISSN: 1755-8794