Table 5.
Frameshift Mutations
| Sample | Exon | DNA change | Protein | New | Disease |
|---|---|---|---|---|---|
| TU326 | 5 | c.321 delT | G109V fs X1 | Yes | carrier |
| TU19 | 6 | c.401_404 delCCAA | N135V fs X5 | Yes | DMD |
| 3451-3453 | 7 | c.593_594 insA | H198Q fs X19 | Yes | DMD |
| TU65 | 8 | c.713_714 delTT | L239A fs X7 | Yes | DMD |
| TU55 | 11 | c.1188 insT | G397W fs X1 | Yes | DMD |
| TU150 | 11 | c.1181del G | G394A fs X12 | Yes | DMD |
| TU16 | 11 | c.1300_1310 delCTCAGGGTAGC | L434X | Yes | DMD |
| TU07 | 12 | c.1482 delG | K494K fs 7 | Yes | DMD |
| TU03 | 14 | c.delGTA 1603insCT | V535L fs X47 | Yes | DMD |
| TU386 | 16 | c.1859 delT | L620R fs X12 | Yes | DMD |
| TU23 | 22 | c.2880 2884 delCAAAC | K961L fs X5 | Yes | DMD |
| TU267 | 22 | c.2887 del T | S963P fs X40 | Yes | DMD |
| TU137 | 25 | c.3285 3288 delCAGT | S1096_D1097I fs X9 | Yes | DMD |
| TU115 | 25 | c.3420 del C | H1140Q fs X13 | Yes | DMD |
| TU27 | 26 | c.3447 delGGlnsTT | K1149N-E1150X | No | DMD |
| TU177 | 26 | c.3464 3471 del GTTGGAG | G1155E fs X20 | No | DMD |
| TU44 | 30 | c.4100 delA | Q1367R fs X15 | Yes | DMD |
| TU103 | 30 | c.4119 delG | E1374R fs X8 | Yes | DMD |
| G7 | 30 | c.4186 insA | Y1396X fs | Yes | DMD |
| TU29-G10 | 33 | c.4565delT (Stop TAA) | V1522G fs X2 | No | DMD |
| TU08-R49 | 35 | c.4871_4872 delAG | K1625G fs X27 | Yes | DMD |
| TU13 | 36 | c.5091 delG | A1698L fs X22 | Yes | DMD |
| R44 | 37 | c.5272_5280 del TCAGAGCTC ins CCAA | S1758P fs X13 | Yes | DMD |
| TU304 | 40 | c.5606 del G | R1869K fs X4 | Yes | DMD |
| TU06 | 40 | c.5697 dup A | L1900I fs X5 | No | DMD |
| 3488 | 42 | c.5973_5974 ins A | E1992R fs X11 | Yes | DMD |
| TU211 | 44 | c.6353 delA | Q2118R fs X3 | Yes | DMD |
| TU04 | 48 | c.6980del A | K2329S fs X8 | No | DMD |
| TU57 | 55 | c.8081 del G | F2694S fs X31 | Yes | DMD |
| R37 | 56 | c.8284 ins A | I2762N fs X 10 | Yes | DMD |
| TU33 | 58 | c.8597 8598deiTT | L2866R fs X28 | Yes | DMD |
| TU62 | 59 | c.8732 insA | N2912Q fs X2 | No | DMD |
| TU151 | 62 | c.9204_9207 del CAAA | N3068K fs X20 | No | DMD |
| TU179-G1 | 65 | c.9429_9430 del GC | Q3143H fs X9 | Yes | DMD |
| TU192-TU193 | 68 | c.9926_9929 ins AAGC | H3309Q fs X7 | Yes | BMD/DMD |
| G12 | 70 | c.10105 del G | V3369F fs X8 | Yes | DMD |
| TU214 | 73 | c.10386 del T | N3462K fs X3 | Yes | BMD/DMD |