Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants

Table 3 Summary of splice-altering coding SNVs in the SPINK1 gene

Variant types	Total potential SNVs (a)	Splice-altering SNVs (b)	Percentage (b/a)
Translation initiation codon^a	9	0	0
Missense	506	11	2.17
Synonymous	164	1	0.61
Nonsense	32	0	0
Translation termination codon^a	9	0	0
Total	720	12	1.67

SNVs, single-nucleotide variants
^aSNVs occurring within either the translation initiation or termination codon are referred to simply as "translation initiation codon" or "translation termination codon" variants

ISSN: 1479-7364