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

[i] Positions are with respect to the mRNA (NM_000322). Patient numbers correspond to the pedigree in Figure 1