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Amplicon Sequencing of Family LD_0638 Shows that LD_0638.1 Is Mosaic for the TUBB4A c.745G>A Variant
| Individual | Affected | DNA Source | Wild-Type Reads (G) | Alternative Reads (A) | Percentage of Alternative Reads |
|---|---|---|---|---|---|
| LD_0638.1 | no | blood | 1,339,079 | 446,652 | 25% |
| buccal | 1,023,413 | 426,821 | 29% | ||
| saliva | 1,003,089 | 354,859 | 26% | ||
| LD_0638.2 | no | blood | 1,386,048 | 1580 | 0% |
| buccal | 1,071,589 | 701 | 0% | ||
| saliva | 991,880 | 1,011 | 0% | ||
| LD_0638.0A | yes | blood | 838,773 | 785,684 | 48% |
| LD_0638.0B | yes | blood | 680,222 | 637,585 | 48% |
