Summary of mutations found in this study
| Case no. . | cDNA . | Protein . | Previous reports . | Reference no. . |
|---|---|---|---|---|
| 1 | 471G>T | Pro157syn | — | — |
| 2 | 303T>C | Thr101syn | — | — |
| 3, 6 | 124G>C | Gly42Arg | — | — |
| 4 | 208delC | Ser70fsTer93 | — | — |
| 7 | 316_338dup | Tyr113Ter | — | — |
| 10 | 413_414insCGGGGG | G138_R139insGlyGly | — | — |
| 12 | 517C>T | Pro173Ser | — | — |
| 5, 8, 13 | 511G>A | Asp171Asn | Asp171Gly (2 cases) | 10 |
| 9 | 530G>A | Arg177Gln | Arg177Gln (2 cases) | 8, 10 |
| 11 | 343_364dup | Ala122fsTer123 | Ala122fsTer123 | 10 |
| Case no. . | cDNA . | Protein . | Previous reports . | Reference no. . |
|---|---|---|---|---|
| 1 | 471G>T | Pro157syn | — | — |
| 2 | 303T>C | Thr101syn | — | — |
| 3, 6 | 124G>C | Gly42Arg | — | — |
| 4 | 208delC | Ser70fsTer93 | — | — |
| 7 | 316_338dup | Tyr113Ter | — | — |
| 10 | 413_414insCGGGGG | G138_R139insGlyGly | — | — |
| 12 | 517C>T | Pro173Ser | — | — |
| 5, 8, 13 | 511G>A | Asp171Asn | Asp171Gly (2 cases) | 10 |
| 9 | 530G>A | Arg177Gln | Arg177Gln (2 cases) | 8, 10 |
| 11 | 343_364dup | Ala122fsTer123 | Ala122fsTer123 | 10 |
— indicates previously not reported.