Table 1.
Dideoxy Sequencing Results for Variant Positions in Exon 3
|
Patient # |
1147 |
1166 |
1250 |
1291 |
|---|---|---|---|---|
| 1540 | C | A/G | A | C |
| 1484 | C | A/G | A | C |
| 1526 | G/C | A | A/G | C/T |
| 1567 | G/C | A | A/G | C |
| 1566 | G/C | A | A/G | C |
| 1515 | G/C | A | A/G | C |
| 1565 | G/C | A/G | A/G | C |
| 1556 | G/C | A/G | A/G | C |
| 1449 | G/C | A | A/G | C/T |
| 1563 | G/C | A | A/G | C |
| 1549 | G | A | G | C/T |
| 1516 | G/C | A | A/G | C/T |
| 1517 | G/C | A | A/G | C/T |
| 1552 | G/C | A | A/G | C |
| 1564 | G | A | G | C/T |
| 1519
|
G/C
|
A
|
A/G
|
C/T
|
-
Positions are with respect to the mRNA (NM_000322). Patient numbers correspond to the pedigree in Figure 1
