Table 3.

Relationship between the number and type of mutations reported for each gene and the number of regions that consistently failed to generate signals (“no calls”).

Type of mutation	Number of mutations	Number of mutations in “no call” regions
Single nucleotide changes
Missense/nonsense	200	6
Single nucleotide polymorphism	119	4
Splicing	41	1
Total number of mutations	360	11*
Insertion and deletion**
Insertion	50	1 (?)
Insertion/deletion	5	0
Small deletion	86	4 (?)
Large deletion (>20 nucleotides)	6	0
Duplication	2	0

^*6 mutations in SERPINA1, 4 mutations in JAG1, and 1 mutation in ABCB11

^**The resequencing technology may not reliably identify insertion, deletion, or duplication. Although most of these mutations reside in regions of the gene fully sequenced by the chip, the ability to identify these mutations requires further validation.