Table 2 Confirmed point mutations, small deletion/insertion of DMD/BMD patients
CHFU no. | Phenotype | Family history | Exon/Intron | Sequencing results | Change of protein | Carrier status of mother |
|---|---|---|---|---|---|---|
7 | DMD | No | Exo 19 | c.2308A > T | p.Lys770X | Unknown |
11 | DMD | No | Exo 34 | *c.4746_4747delCT | p.Leu1583ThrfsX18 | Unknown |
12 | DMD | No | Exo 19 | c.2302C > T | p.Arg768X | Unknown |
13 | DMD | Yes | Exo 34 | *c.4808_4809insGGAA | p.Met1603GlufsX3 | Yes |
19 | DMD | Yes | Exo 22 | c.2816 T > A | p.Leu939X | Yes |
20 | DMD | No | Exo 17 | c.2137C > T | p.Gln713X | Unknown |
21 | DMD | No | Exo 51 | *c.7327_7328insA | p.Asn2444SerfsX9 | Unknown |
22 | DMD | Yes | Int 21 | c.2803 + 1G > A | Yes | |
26 | DMD | No | Exo 33 | c.4630delA | p.Glu1545fs | Unknown |
33 | DMD | No | Exo 16 | *c.1886C > G | p.Ser629X | Unknown |
42 | DMD | Yes | Exo 60 | c.8944C > T | p.Arg2982X | Yes |
45 | BMD | No | Int 17 | *c.2169-1G > T | Unknown | |
59 | DMD | No | Exo 52 | c.7657C > T | p.Arg2553X | Unknown |
60 | DMD | No | Exo 55 | *c.8147-8148insCAGAAG | p.His2717ArgfsX3 | Unknown |
CTGAAACAACTGCCAA | ||||||
TGTCCTACA | ||||||
61 | DMD | No | Exo 13 | c.1594C > T | p.Gln532X | Yes |
62 | BMD | Yes | Exo 4 | *c.264_264 + 4delTGTAA | p.Pro63_Asn88del | Yes |
64 | DMD | Yes | Exo 64 | *c.9297_9300dup | p.Asn3100Asnfs | Yes |
67 | BMD | No | Exo 25 | c.3432G > T | p.Gln1144His | Unknown [19] |
68 | DMD | No | Exo 18 | *c.2191delC | p.Arg1288LeufsX7 | Unknown |
71 | DMD | No | Exo 44 | c.6292C > T | p.Arg2098X | Yes |
74 | DMD | No | Int 67 | c.9807 + 5G > A | Unknown | |
75 | DMD | No | Exo 42 | *c.6045delA | p.Asp2016AsnfsX23 | Unknown |
79 | DMD | No | Exo 64 | c.9337C > T | p.Arg3113X | Unknown |
80 | BMD | No | Exo 25 | *c.3388G > T | p.Glu1130X | Unknown |
86 | DMD | No | Exo 66 | c.9568C > T | p.Arg3190X | Unknown |
89 | DMD | No | Exo 33 | *c.4538-4541GTGAdel | p.Lys1514fs | Unknown |
91 | DMD | No | Int 54 | *c.8028-1G > C | Unknown | |
92 | DMD | Yes | Exo 67 | *c.9722_9723delCT | p.Tyr3242ProfsX8 | Yes |
93 | BMD | No | Exo 29 | c.3940C > T | p.Arg1314X | Unknown |
96 | DMD | Yes | Exo 47 | *c.6804_6807delACAA | p.Asn2269fs | Yes |
97 | DMD | Yes | Exo 59 | c.8713C > T | p.Arg2905X | Yes |
100 | DMD | No | Exo 44 | *c.6391_6392delCA | p.Asn2132Leufs | Unknown |
101 | DMD | Yes | Exo 10 | c.998C > A | p.Ser333X | Yes |
106 | DMD | No | Exo 55 | c.8038C > T | p.Arg2680X | Unknown |
107 | DMD | No | Exo 15 | *c.1713insT | p.Phe572fs | No |
113 | DMD | No | Exo 64 | c.9337C > T | p.Arg3113X | Unknown |
114 | DMD | No | Exo 42 | *c.6033insTTAA | p.Leu2012IlefsX11 | Yes |
127 | DMD | No | Exo 19 | *c.2300delA | p.Gly768GlufsX25 | Unknown |
135 | DMD | Yes | Exo 59 | *c.8740G > T | p.Glu2914X | Yes |
145 | DMD | Yes | Exo 70 | c.10171C > T | p.Arg3391X | Yes |
148 | DMD | No | Exo 52 | c.7657C > T | p.Arg2553X | Unknown |
161 | DMD | No | Exo 10 | *c.1033C > T | p.Gln345X | Yes |
165 | DMD | No | Exo 32 | c.4483C > T | p.Gln1495X | Unknown |
170 | DMD | Yes | Exo 20 | *c.2571delC | p.Pro858ProfsX13 | Yes |
171 | DMD | No | Int 14 | c.1704 + 1G > C | Yes | |
172 | DMD | No | Exo 44 | c.6292C > T | p.Arg2098X | Yes |
177 | DMD | Yes | Exo 12 | *c.1412delC | p.Lys472GlyfsX15 | Yes |
192 | DMD | No | Exo 70 | c.10108C > T | p.Arg3370X | Unknown |
193 | DMD | No | Exo 39 | *c.5485C > T | p.Gln1829X | Unknown |
197 | DMD | Yes | Exo 64 | *c.9297_9300dup | p.Asn3100Asnfs | Yes |
201 | DMD | No | Exo 70 | c.10108C > T | p.Arg3370X | Unknown |