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Table 1 The mutation spectrum of DMD patients in 52 families

From: Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center

Family numberExon IDBase changeEffectMutation typeCarrier status of motherStatus
1Exon66c.9568C > Tp.Arg3190*NonsenseYesReported
2Exon47c.6804_6807delACAAp.Lys2268Asnfs*2Small deletionsYesReported
3Intron65c.9564-427 T > G SplicingNoReported
4Exon22c.2929C > Tp.Gln977*NonsenseYesReported
5Exon7c.583C > Tp.Arg195*NonsenseYesReported
6Exon41c.5899C > Tp.Arg1967*NonsenseYesReported
7Exon40c.5591_5592insTp.Leu1864phefs*24Small insertionsYesReported
8Exon40c.5697delAp.Lys1899AsnfsSmall deletionsYesReported
9Exon16c.1978_1979delAAp.K660Efs*59Small deletionsYesReported
10Exon14c.1652G > Ap.W551*NonsenseYesReported
11Exon14c.1615C > Tp.Arg539*NonsenseYesReported
12Intron45c.6615-2A > G SplicingYesReported
13Exon6c.412A > Tp.Lys138*NonsenseYesNovel
14Exon56c.8299G > Tp.E2767*NonsenseYesReported
15Exon62c.9204_9207delCAAAp.Asn3068LysfsSmall deletionsYesReported
16Exon23c.2962delTp.Ser988Leufs*16Small deletionsYesNovel
17Exon75c.10705A > Tp.Lys3569*NonsenseYesNovel
18Exon47c.6850dupAp.Ser2284Lysfs*7Small insertionsYesNovel
19Exon36c.5139dupAp.E1714Rfs*5Small insertionsYesNovel
20Exon43c.6201_6203delGCCinsCCCAp.Val2069Cysfs*14Small deletions and insertionsYesNovel
21Exon8–17  DupYesReported
22Exon12–29  DelYesReported
23Exon48–50  DelYesReported
24Exon47–50  DelNoReported
25Exon49–52  DelYesReported
26Exon49–50  DelYesReported
27Exon46–52  DelYesReported
28Exon45–47  DelYesReported
29Exon46–48  DelYesReported
30Exon1–44  DelYesReported
31Exon46–52  DelYesReported
32Exon1–60  DelYesReported
33Exon47–50  DelYesReported
34Exon49–52  DelYesReported
35Exon45  DelYesReported
36Exon51–54  DelNoReported
37Exon51–54  DelNoReported
38Exon10–11  DelYesReported
39Exon18–41  DelYesReported
40Exon17  DelYesReported
41Exon51–55  DelNoReported
42Exon45–50  DelYesReported
43Exon48–50  DelYesReported
44Exon50  DelNoReported
45Exon45–50  DelNoReported
46Exon45  DelNoReported
47Exon50  DelYesReported
48Exon45–52  DelNoReported
49Exon31–44  DelYesReported
50Exon49–51  DelYesReported
51Exon43–44  DelYesReported
52Exon45–50  DelYesReported